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	IGV_Control	Sequence Source	PPH2_Prediction	Amino_Acid_Change
ZCWPW1		inserm.fr	GRCh37	7	100014720	100014720	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1602T																					ENST00000398027.2:c.448G>T	p.Ala150Ser	p.A150S	ENST00000398027	NM_017984.4	150	Gct/Tct	0	not done		benign	
MEPCE		inserm.fr	GRCh37	7	100028403	100028403	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000310512.2:c.762G>A	p.Ser254=	p.S254=	ENST00000310512	NM_019606.5	254	tcG/tcA	0	not done		synonymous	
GRIN3B		inserm.fr	GRCh37	19	1000568	1000568	+	synonymous_variant	Silent	SNP	C	A	A			BCM783T																					ENST00000234389.3:c.132C>A	p.Pro44=	p.P44=	ENST00000234389	NM_138690.1	44	ccC/ccA	0	validated		synonymous	
PRDM13		inserm.fr	GRCh37	6	100061209	100061209	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1192T																					ENST00000369215.4:c.698C>A	p.Ser233Tyr	p.S233Y	ENST00000369215	NM_021620.3	233	tCc/tAc	0	not done		possiblydamaging	
CCDC180		inserm.fr	GRCh37	9	100070049	100070049	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000375202.2:c.12G>A	p.Gly4=	p.G4=	ENST00000375202		4	ggG/ggA	0	not done		synonymous	
TSC22D4		inserm.fr	GRCh37	7	100072058	100072058	+	synonymous_variant	Silent	SNP	G	A	A			BCM483T																					ENST00000300181.2:c.768C>T	p.Pro256=	p.P256=	ENST00000300181	NM_030935.3	256	ccC/ccT	0	validated		synonymous	
CSTF2		inserm.fr	GRCh37	X	100088232	100088232	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000372972.2:c.1271G>A	p.Gly424Glu	p.G424E	ENST00000372972	NM_001325.2	424	gGg/gAg	0	not done		benign	
C9orf174		inserm.fr	GRCh37	9	100092468	100092468	+	synonymous_variant	Silent	SNP	G	A	A			CHC451T																					ENST00000375202.2:c.1953G>A	p.Arg651=	p.R651=	ENST00000375202		651	agG/agA	0	not done		synonymous	
CCDC180		inserm.fr	GRCh37	9	100112793	100112793	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000375202.2:c.3090G>A	p.Leu1030=	p.L1030=	ENST00000375202		1030	ctG/ctA	0	not done		synonymous	
NOX1		inserm.fr	GRCh37	X	100117721	100117721	+	synonymous_variant	Silent	SNP	G	A	A			CHC1725T																					ENST00000372966.3:c.426C>T	p.Ser142=	p.S142=	ENST00000372966	NM_001271815.1	142	tcC/tcT	0	not done		synonymous	
VPS13B		inserm.fr	GRCh37	8	100133570	100133570	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000358544.2:c.1103G>A	p.Gly368Glu	p.G368E	ENST00000358544	NM_017890.4	368	gGg/gAg	0	not done		benign	
HHIPL1		inserm.fr	GRCh37	14	100141697	100141697	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000330710.5:c.2083C>A	p.Arg695Ser	p.R695S	ENST00000330710	NM_001127258.1	695	Cgc/Agc	0	not done		possiblydamaging	
HHIPL1		inserm.fr	GRCh37	14	100141778	100141778	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000330710.5:c.2164G>A	p.Val722Met	p.V722M	ENST00000330710	NM_001127258.1	722	Gtg/Atg	0	not done		probablydamaging	
AGFG2		inserm.fr	GRCh37	7	100151120	100151120	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1720T																					ENST00000300176.4:c.582C>A	p.Ser194Arg	p.S194R	ENST00000300176	NM_006076.4	194	agC/agA	0	not done		possiblydamaging	
CYP46A1		inserm.fr	GRCh37	14	100158117	100158117	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000261835.3:c.201G>A	p.Trp67Ter	p.W67*	ENST00000261835	NM_006668.1	67	tgG/tgA	0	not done		damaging	
CNTN5		inserm.fr	GRCh37	11	100170088	100170088	+	synonymous_variant	Silent	SNP	G	A	A			CHC433T																					ENST00000524871.1:c.2580G>A	p.Gly860=	p.G860=	ENST00000524871	NM_014361.3	860	ggG/ggA	0	validated		synonymous	
LRCH4		inserm.fr	GRCh37	7	100174598	100174598	+	synonymous_variant	Silent	SNP	T	A	A			CHC451T																					ENST00000310300.6:c.1395A>T	p.Ala465=	p.A465=	ENST00000310300	NM_002319.3	465	gcA/gcT	0	not done		synonymous	
HPS1		inserm.fr	GRCh37	10	100189368	100189368	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC121T																					ENST00000325103.6:c.899A>T	p.Tyr300Phe	p.Y300F	ENST00000325103	NM_000195.3	300	tAc/tTc	0	validated		benign	
HPS1		inserm.fr	GRCh37	10	100195523	100195523	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC609T																					ENST00000325103.6:c.124G>T	p.Ala42Ser	p.A42S	ENST00000325103	NM_000195.3	42	Gcc/Tcc	0	validated		benign	
AFF3		inserm.fr	GRCh37	2	100210320	100210320	+	synonymous_variant	Silent	SNP	G	A	A			CHC1708T																					ENST00000356421.2:c.1878C>T	p.Asn626=	p.N626=	ENST00000356421	NM_001025108.1	626	aaC/aaT	0	not done		synonymous	
TFR2		inserm.fr	GRCh37	7	100225009	100225009	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM399T																					ENST00000462107.1:c.1873C>T	p.Leu625Phe	p.L625F	ENST00000462107		625	Ctc/Ttc	0	validated		benign	
TFR2		inserm.fr	GRCh37	7	100231142	100231142	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1746T																					ENST00000462107.1:c.511G>T	p.Gly171Trp	p.G171W	ENST00000462107		171	Ggg/Tgg	0	not done		probablydamaging	
TDRD7		inserm.fr	GRCh37	9	100232912	100232912	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1154T																					ENST00000355295.4:c.1702T>A	p.Cys568Ser	p.C568S	ENST00000355295	NM_014290.2	568	Tgt/Agt	0	not done		possiblydamaging	
TFR2		inserm.fr	GRCh37	7	100238308	100238308	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC1704T																					ENST00000462107.1:c.473+1G>T		p.X158_splice	ENST00000462107				0	not done		possiblydamaging	
MEF2A		inserm.fr	GRCh37	15	100250887	100250887	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC2208T																					ENST00000354410.5:c.1040C>A	p.Ser347Ter	p.S347*	ENST00000354410	NM_005587.2	347	tCg/tAg	0	not done		damaging	
TRMT2B		inserm.fr	GRCh37	X	100265604	100265604	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000372936.3:c.1481C>T	p.Pro494Leu	p.P494L	ENST00000372936	NM_024917.5	494	cCa/cTa	0	not done		benign	
TRMT2B		inserm.fr	GRCh37	X	100278537	100278537	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1738T																					ENST00000372936.3:c.678G>T	p.Trp226Cys	p.W226C	ENST00000372936	NM_024917.5	226	tgG/tgT	0	not done		probablydamaging	
GIGYF1		inserm.fr	GRCh37	7	100285642	100285642	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM723T									Valid												ENST00000275732.5:c.127C>T	p.Arg43Ter	p.R43*	ENST00000275732	NM_022574.4	43	Cga/Tga	0	validated		damaging	
TRMT2B		inserm.fr	GRCh37	X	100297181	100297181	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000372936.3:c.98C>T	p.Ala33Val	p.A33V	ENST00000372936	NM_024917.5	33	gCc/gTc	0	validated		benign	
ZAN		inserm.fr	GRCh37	7	100346061	100346061	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000546292.1:c.1217G>A	p.Gly406Asp	p.G406D	ENST00000546292	NM_173059.1	406	gGc/gAc	0	not done		possiblydamaging	
ZAN		inserm.fr	GRCh37	7	100349921	100349921	+	synonymous_variant	Silent	SNP	C	A	A			CHC301T																					ENST00000546292.1:c.2193C>A	p.Ser731=	p.S731=	ENST00000546292	NM_173059.1	731	tcC/tcA	0	validated		synonymous	
ZAN		inserm.fr	GRCh37	7	100350089	100350089	+	synonymous_variant	Silent	SNP	C	A	A			CHC303T																					ENST00000546292.1:c.2361C>A	p.Pro787=	p.P787=	ENST00000546292	NM_173059.1	787	ccC/ccA	0	validated		synonymous	
AGL		inserm.fr	GRCh37	1	100356882	100356882	+	synonymous_variant	Silent	SNP	G	A	A			CHC1714T																					ENST00000294724.4:c.2919G>A	p.Arg973=	p.R973=	ENST00000294724	NM_000028.2	973	cgG/cgA	0	not done		synonymous	
ZAN		inserm.fr	GRCh37	7	100359958	100359958	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000546292.1:c.3963G>A	p.Gln1321=	p.Q1321=	ENST00000546292	NM_173059.1	1321	caG/caA	0	not done		synonymous	
ZAN		inserm.fr	GRCh37	7	100372997	100372997	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB111T																					ENST00000546292.1:c.5824G>A	p.Asp1942Asn	p.D1942N	ENST00000546292	NM_173059.1	1942	Gat/Aat	0	validated		probablydamaging	
EML1		inserm.fr	GRCh37	14	100374034	100374034	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000334192.4:c.1125G>A	p.Trp375Ter	p.W375*	ENST00000334192	NM_001008707.1	375	tgG/tgA	0	not done		damaging	
EPHB4		inserm.fr	GRCh37	7	100404154	100404154	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000358173.3:c.2372C>T	p.Ala791Val	p.A791V	ENST00000358173	NM_004444.4	791	gCc/gTc	0	validated		probablydamaging	
EML1		inserm.fr	GRCh37	14	100405575	100405575	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000334192.4:c.2290G>A	p.Val764Ile	p.V764I	ENST00000334192	NM_001008707.1	764	Gtc/Atc	0	validated		benign	
NCBP1		inserm.fr	GRCh37	9	100412790	100412790	+	synonymous_variant	Silent	SNP	T	A	A			CHC1052T																					ENST00000375147.3:c.903T>A	p.Pro301=	p.P301=	ENST00000375147	NM_002486.4	301	ccT/ccA	0	validated		synonymous	
EPHB4		inserm.fr	GRCh37	7	100424634	100424634	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1205T																					ENST00000358173.3:c.19C>T	p.Leu7Phe	p.L7F	ENST00000358173	NM_004444.4	7	Ctc/Ttc	0	not done		possiblydamaging	
C4orf17		inserm.fr	GRCh37	4	100460365	100460365	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2112T																					ENST00000326581.4:c.674T>A	p.Ile225Lys	p.I225K	ENST00000326581	NM_032149.2	225	aTa/aAa	0	not done		probablydamaging	
ABI3BP		inserm.fr	GRCh37	3	100470448	100470448	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1205T																					ENST00000284322.5:c.3060A>T	p.Leu1020Phe	p.L1020F	ENST00000284322	NM_015429.3	1020	ttA/ttT	0	not done		probablydamaging	
UFSP1		inserm.fr	GRCh37	7	100486569	100486569	+	synonymous_variant	Silent	SNP	C	A	A			CHC313T																					ENST00000388761.2:c.324G>T	p.Gly108=	p.G108=	ENST00000388761	NM_001015072.3	108	ggG/ggT	0	validated		synonymous	
ABI3BP		inserm.fr	GRCh37	3	100497206	100497206	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000284322.5:c.2122C>T	p.Pro708Ser	p.P708S	ENST00000284322	NM_015429.3	708	Ccc/Tcc	0	not done		benign	
DRP2		inserm.fr	GRCh37	X	100503526	100503526	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC361TA									Valid												ENST00000395209.3:c.1478C>A	p.Ala493Glu	p.A493E	ENST00000395209	NM_001939.2	493	gCa/gAa	0	validated		possiblydamaging	
MTTP		inserm.fr	GRCh37	4	100530030	100530030	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000457717.1:c.1665G>A	p.Met555Ile	p.M555I	ENST00000457717	NM_000253.2	555	atG/atA	0	not done		possiblydamaging	
TAF1B		inserm.fr	GRCh37	2	10053298	10053298	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCB301T																					ENST00000263663.5:c.1191G>A	p.Trp397Ter	p.W397*	ENST00000263663	NM_005680.2	397	tgG/tgA	0	validated		damaging	
MTTP		inserm.fr	GRCh37	4	100540223	100540223	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000457717.1:c.2310G>A	p.Trp770Ter	p.W770*	ENST00000457717	NM_000253.2	770	tgG/tgA	0	not done		damaging	
WNK1		inserm.fr	GRCh37	12	1005450	1005450	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000315939.6:c.5797G>A	p.Ala1933Thr	p.A1933T	ENST00000315939	NM_018979.3	1933	Gca/Aca	0	not done		benign	
SASS6		inserm.fr	GRCh37	1	100553757	100553757	+	synonymous_variant	Silent	SNP	T	A	A			CHC1028T																					ENST00000287482.5:c.1710A>T	p.Ala570=	p.A570=	ENST00000287482	NM_194292.1	570	gcA/gcT	0	not done		synonymous	
LOC285556		inserm.fr	GRCh37	4	100573849	100573849	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000511828.1:c.1957C>T	p.Leu653Phe	p.L653F	ENST00000511828		653	Ctc/Ttc	0	not done			
LOC285556		inserm.fr	GRCh37	4	100574052	100574052	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000511828.1:c.1754C>T	p.Ala585Val	p.A585V	ENST00000511828		585	gCt/gTt	0	not done			
LOC285556		inserm.fr	GRCh37	4	100575014	100575014	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000511828.1:c.792C>T	p.Gly264=	p.G264=	ENST00000511828		264	ggC/ggT	0	not done		synonymous	
ACTR6		inserm.fr	GRCh37	12	100604124	100604124	+	synonymous_variant	Silent	SNP	T	A	A			CHC1594T																					ENST00000188312.2:c.567T>A	p.Ser189=	p.S189=	ENST00000188312	NM_022496.4	189	tcT/tcA	0	not done		synonymous	
FOXE1		inserm.fr	GRCh37	9	100616383	100616383	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T									Valid												ENST00000375123.3:c.187G>A	p.Ala63Thr	p.A63T	ENST00000375123	NM_004473.3	63	Gcc/Acc	0	validated		possiblydamaging	
FOXE1		inserm.fr	GRCh37	9	100616404	100616404	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM545T																					ENST00000375123.3:c.208C>A	p.Pro70Thr	p.P70T	ENST00000375123	NM_004473.3	70	Ccc/Acc	0	validated		probablydamaging	
ZIC5		inserm.fr	GRCh37	13	100617728	100617728	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM397T																					ENST00000267294.4:c.1895C>T	p.Pro632Leu	p.P632L	ENST00000267294	NM_033132.3	632	cCc/cTc	0	validated		probablydamaging	
MUC12		inserm.fr	GRCh37	7	100634944	100634944	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM321T									Valid												ENST00000536621.1:c.1100C>A	p.Ser367Ter	p.S367*	ENST00000536621	NM_001164462.1	367	tCa/tAa	0	validated		damaging	
MUC12		inserm.fr	GRCh37	7	100635850	100635850	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000536621.1:c.2006C>A	p.Pro669Gln	p.P669Q	ENST00000536621	NM_001164462.1	669	cCa/cAa	0	not done			
MUC17		inserm.fr	GRCh37	7	100663439	100663439	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000306151.4:c.23C>A	p.Ala8Glu	p.A8E	ENST00000306151	NM_001040105.1	8	gCg/gAg	0	not done		probablydamaging	
VPS13B		inserm.fr	GRCh37	8	100673586	100673586	+	synonymous_variant	Silent	SNP	T	A	A			BCM325T																					ENST00000358544.2:c.5988T>A	p.Pro1996=	p.P1996=	ENST00000358544	NM_017890.4	1996	ccT/ccA	0	validated		synonymous	
MUC17		inserm.fr	GRCh37	7	100675732	100675732	+	synonymous_variant	Silent	SNP	G	A	A			BCB325T																					ENST00000306151.4:c.1035G>A	p.Pro345=	p.P345=	ENST00000306151	NM_001040105.1	345	ccG/ccA	0	validated		synonymous	
MUC17		inserm.fr	GRCh37	7	100682909	100682909	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000306151.4:c.8212G>A	p.Gly2738Ser	p.G2738S	ENST00000306151	NM_001040105.1	2738	Ggt/Agt	0	not done		probablydamaging	
MUC17		inserm.fr	GRCh37	7	100683692	100683692	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000306151.4:c.8995G>A	p.Val2999Met	p.V2999M	ENST00000306151	NM_001040105.1	2999	Gtg/Atg	0	not done		probablydamaging	
MUC17		inserm.fr	GRCh37	7	100686850	100686850	+	synonymous_variant	Silent	SNP	C	A	A			BCM567T																					ENST00000306151.4:c.12153C>A	p.Ser4051=	p.S4051=	ENST00000306151	NM_001040105.1	4051	tcC/tcA	0	validated		synonymous	
TRIM56		inserm.fr	GRCh37	7	100732489	100732489	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000306085.6:c.1896G>A	p.Arg632=	p.R632=	ENST00000306085	NM_030961.1	632	cgG/cgA	0	not done		synonymous	
RNF223		inserm.fr	GRCh37	1	1007343	1007343	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1207T																					ENST00000453464.2:c.604G>T	p.Ala202Ser	p.A202S	ENST00000453464	NM_001205252.1	202	Gcc/Tcc	0	validated			
ARMCX4		inserm.fr	GRCh37	X	100744251	100744251	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000423738.3:c.675G>A	p.Thr225=	p.T225=	ENST00000423738	NM_001256155.1	225	acG/acA	0	validated		synonymous	
ARMCX4		inserm.fr	GRCh37	X	100745391	100745391	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000423738.3:c.1815G>A	p.Lys605=	p.K605=	ENST00000423738	NM_001256155.1	605	aaG/aaA	0	not done		synonymous	
ARMCX4		inserm.fr	GRCh37	X	100747296	100747296	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000423738.3:c.3720G>A	p.Gln1240=	p.Q1240=	ENST00000423738	NM_001256155.1	1240	caG/caA	0	not done		synonymous	
ARMCX4		inserm.fr	GRCh37	X	100747783	100747783	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000423738.3:c.4207G>A	p.Ala1403Thr	p.A1403T	ENST00000423738	NM_001256155.1	1403	Gct/Act	0	not done			
ARMCX4		inserm.fr	GRCh37	X	100748119	100748119	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000423738.3:c.4543G>A	p.Gly1515Arg	p.G1515R	ENST00000423738	NM_001256155.1	1515	Ggg/Agg	0	not done			
DAPP1		inserm.fr	GRCh37	4	100756805	100756805	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC302T									Valid												ENST00000512369.1:c.127C>A	p.His43Asn	p.H43N	ENST00000512369	NM_014395.2	43	Cat/Aat	0	validated		possiblydamaging	
SLC25A29		inserm.fr	GRCh37	14	100759220	100759220	+	synonymous_variant	Silent	SNP	G	A	A			CHC253T																					ENST00000359232.3:c.312C>T	p.Ala104=	p.A104=	ENST00000359232	NM_001039355.1	104	gcC/gcT	0	validated		synonymous	
GRIN3B		inserm.fr	GRCh37	19	1007680	1007680	+	synonymous_variant	Silent	SNP	C	A	A			BCM275T																					ENST00000234389.3:c.2106C>A	p.Ala702=	p.A702=	ENST00000234389	NM_138690.1	702	gcC/gcA	0	validated		synonymous	
VGF		inserm.fr	GRCh37	7	100807809	100807809	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000249330.2:c.316C>T	p.Pro106Ser	p.P106S	ENST00000249330	NM_003378.3	106	Ccg/Tcg	0	not done		benign	
ARMCX1		inserm.fr	GRCh37	X	100808328	100808328	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM265T																					ENST00000372829.3:c.415G>A	p.Ala139Thr	p.A139T	ENST00000372829	NM_016608.1	139	Gca/Aca	0	validated		benign	
WARS		inserm.fr	GRCh37	14	100820842	100820842	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000355338.2:c.484C>T	p.Arg162Trp	p.R162W	ENST00000355338	NM_173701.1	162	Cgg/Tgg	0	validated		probablydamaging	
COL5A3		inserm.fr	GRCh37	19	10083692	10083692	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1725T																					ENST00000264828.3:c.3677G>T	p.Gly1226Val	p.G1226V	ENST00000264828	NM_015719.3	1226	gGa/gTa	0	not done		probablydamaging	
SIM1		inserm.fr	GRCh37	6	100838426	100838426	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1741T																					ENST00000369208.3:c.2112G>T	p.Gln704His	p.Q704H	ENST00000369208		704	caG/caT	0	not done		probablydamaging	
WDR25		inserm.fr	GRCh37	14	100847406	100847406	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC205T																					ENST00000335290.6:c.145G>A	p.Asp49Asn	p.D49N	ENST00000335290	NM_024515.4	49	Gat/Aat	0	validated		benign	
WWC3		inserm.fr	GRCh37	X	10085164	10085164	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000380861.4:c.1065C>A	p.Ser355Arg	p.S355R	ENST00000380861	NM_015691.3	355	agC/agA	0	not done		possiblydamaging	
PCCA		inserm.fr	GRCh37	13	100861652	100861652	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000376285.1:c.535G>A	p.Glu179Lys	p.E179K	ENST00000376285	NM_000282.3	179	Gaa/Aaa	0	not done		possiblydamaging	
ARMCX6		inserm.fr	GRCh37	X	100871207	100871207	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC121T									Valid												ENST00000539247.1:c.404G>T	p.Gly135Val	p.G135V	ENST00000539247	NM_001184768.1	135	gGa/gTa	0	validated		probablydamaging	
ARMCX6		inserm.fr	GRCh37	X	100871208	100871208	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC121T									Valid												ENST00000539247.1:c.403G>T	p.Gly135Ter	p.G135*	ENST00000539247	NM_001184768.1	135	Gga/Tga	0	validated		damaging	
VPS13B		inserm.fr	GRCh37	8	100883726	100883726	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1207T																					ENST00000358544.2:c.11621T>A	p.Val3874Glu	p.V3874E	ENST00000358544	NM_017890.4	3874	gTg/gAg	0	not done		possiblydamaging	
VPS13B		inserm.fr	GRCh37	8	100887748	100887748	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC320T																					ENST00000358544.2:c.11923C>A	p.Gln3975Lys	p.Q3975K	ENST00000358544	NM_017890.4	3975	Caa/Aaa	0	validated		probablydamaging	
WDR1		inserm.fr	GRCh37	4	10089391	10089391	+	synonymous_variant	Silent	SNP	C	A	A			CHC437T																					ENST00000499869.2:c.891G>T	p.Leu297=	p.L297=	ENST00000499869		297	ctG/ctT	0	not done		synonymous	
NR1H4		inserm.fr	GRCh37	12	100904745	100904745	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000551379.1:c.299G>A	p.Arg100His	p.R100H	ENST00000551379		100	cGt/cAt	0	not done		probablydamaging	
ARMCX2		inserm.fr	GRCh37	X	100912111	100912111	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000328766.5:c.464C>T	p.Pro155Leu	p.P155L	ENST00000328766	NM_014782.5	155	cCt/cTt	0	not done		benign	
GRIN3B		inserm.fr	GRCh37	19	1009497	1009497	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1591T																					ENST00000234389.3:c.3028C>A	p.Gln1010Lys	p.Q1010K	ENST00000234389	NM_138690.1	1010	Cag/Aag	0	not done		benign	
TBC1D2		inserm.fr	GRCh37	9	100961695	100961695	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1915T																					ENST00000375066.5:c.2722G>T	p.Ala908Ser	p.A908S	ENST00000375066	NM_018421.3	908	Gcc/Tcc	0	validated		benign	
COL5A3		inserm.fr	GRCh37	19	10097049	10097049	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM489T																					ENST00000264828.3:c.2294C>T	p.Pro765Leu	p.P765L	ENST00000264828	NM_015719.3	765	cCg/cTg	0	validated		benign	
TBC1D2		inserm.fr	GRCh37	9	100983211	100983211	+	synonymous_variant	Silent	SNP	G	A	A			CHC1717T																					ENST00000375066.5:c.1278C>T	p.Thr426=	p.T426=	ENST00000375066	NM_018421.3	426	acC/acT	0	not done		synonymous	
RGS22		inserm.fr	GRCh37	8	100994227	100994227	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1753T																					ENST00000360863.6:c.3298C>T	p.Gln1100Ter	p.Q1100*	ENST00000360863	NM_015668.3	1100	Caa/Taa	0	not done		damaging	
PGR		inserm.fr	GRCh37	11	100998526	100998526	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000325455.5:c.1276C>T	p.Pro426Ser	p.P426S	ENST00000325455	NM_001202474.3	426	Ccg/Tcg	0	not done		probablydamaging	
PGR		inserm.fr	GRCh37	11	100998930	100998930	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC898T																					ENST00000325455.5:c.872C>T	p.Pro291Leu	p.P291L	ENST00000325455	NM_001202474.3	291	cCc/cTc	0	not done		probablydamaging	
BEGAIN		inserm.fr	GRCh37	14	101004495	101004495	+	synonymous_variant	Silent	SNP	G	A	A			BCB109T																					ENST00000443071.2:c.1593C>T	p.Thr531=	p.T531=	ENST00000443071	NM_001159531.1	531	acC/acT	0	validated		synonymous	
RGS22		inserm.fr	GRCh37	8	101065202	101065202	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1598T																					ENST00000360863.6:c.1517C>T	p.Ala506Val	p.A506V	ENST00000360863	NM_015668.3	506	gCa/gTa	0	not done		probablydamaging	
TMEM259		inserm.fr	GRCh37	19	1010755	1010755	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB111T																					ENST00000356663.3:c.1457C>T	p.Ser486Leu	p.S486L	ENST00000356663	NM_001033026.1	486	tCg/tTg	0	validated		benign	
NMS		inserm.fr	GRCh37	2	101095868	101095868	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000376865.1:c.315G>A	p.Arg105=	p.R105=	ENST00000376865	NM_001011717.1	105	cgG/cgA	0	not done		synonymous	
CNNM1		inserm.fr	GRCh37	10	101117405	101117405	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM723T									Valid												ENST00000356713.4:c.1710T>A	p.Asp570Glu	p.D570E	ENST00000356713	NM_020348.2	570	gaT/gaA	0	validated		probablydamaging	
FBXO43		inserm.fr	GRCh37	8	101153773	101153773	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC892T																					ENST00000428847.2:c.709G>T	p.Asp237Tyr	p.D237Y	ENST00000428847	NM_001029860.3	237	Gat/Tat	0	not done		probablydamaging	
ZMAT1		inserm.fr	GRCh37	X	101159279	101159279	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC313T									Valid												ENST00000372782.3:c.146A>T	p.Lys49Met	p.K49M	ENST00000372782	NM_001011657.3	49	aAg/aTg	0	validated		benign	
PDCL3		inserm.fr	GRCh37	2	101188205	101188205	+	synonymous_variant	Silent	SNP	C	A	A			CHC1035T																					ENST00000264254.6:c.522C>A	p.Ile174=	p.I174=	ENST00000264254	NM_024065.4	174	atC/atA	0	validated		synonymous	
DLK1		inserm.fr	GRCh37	14	101200511	101200511	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1741T																					ENST00000341267.4:c.430T>A	p.Cys144Ser	p.C144S	ENST00000341267	NM_003836.5	144	Tgc/Agc	0	not done		probablydamaging	
RDH8		inserm.fr	GRCh37	19	10124258	10124258	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000591589.1:c.145C>A	p.Pro49Thr	p.P49T	ENST00000591589		49	Ccc/Acc	0	not done		benign	
PCNP		inserm.fr	GRCh37	3	101293120	101293120	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2358T																					ENST00000265260.3:c.61G>A	p.Gly21Arg	p.G21R	ENST00000265260	NM_020357.1	21	Gga/Aga	0	validated		probablydamaging	
RNF19A		inserm.fr	GRCh37	8	101300293	101300293	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC451T																					ENST00000519449.1:c.110A>T	p.Gln37Leu	p.Q37L	ENST00000519449	NM_015435.4	37	cAa/cTa	0	validated		probablydamaging	
TRPC6		inserm.fr	GRCh37	11	101344432	101344432	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM791T																					ENST00000344327.3:c.1817G>T	p.Ser606Ile	p.S606I	ENST00000344327	NM_004621.5	606	aGt/aTt	0	validated		probablydamaging	
TRPC6		inserm.fr	GRCh37	11	101347124	101347124	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000344327.3:c.1652C>T	p.Ala551Val	p.A551V	ENST00000344327	NM_004621.5	551	gCt/gTt	0	not done		possiblydamaging	
RTL1		inserm.fr	GRCh37	14	101347794	101347794	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1598T																					ENST00000534062.1:c.3332C>T	p.Pro1111Leu	p.P1111L	ENST00000534062	NM_001134888.2	1111	cCc/cTc	0	not done		possiblydamaging	
RTL1		inserm.fr	GRCh37	14	101349475	101349475	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000534062.1:c.1651C>T	p.Leu551=	p.L551=	ENST00000534062	NM_001134888.2	551	Ctg/Ttg	0	not done		synonymous	
ALDH1A3		inserm.fr	GRCh37	15	101438292	101438292	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2098T																					ENST00000329841.5:c.785G>A	p.Gly262Glu	p.G262E	ENST00000329841	NM_000693.2	262	gGa/gAa	0	not done		probablydamaging	
FANCD2OS		inserm.fr	GRCh37	3	10146176	10146176	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2213T																					ENST00000450660.2:c.283C>T	p.Arg95Cys	p.R95C	ENST00000450660	NM_001164839.1	95	Cgc/Tgc	0	not done		probablydamaging	
DPH5		inserm.fr	GRCh37	1	101467122	101467122	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1731T																					ENST00000370109.3:c.391G>T	p.Val131Phe	p.V131F	ENST00000370109	NM_001077395.1	131	Gtt/Ttt	0	not done		probablydamaging	
CEP97		inserm.fr	GRCh37	3	101477268	101477268	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC1736T																					ENST00000341893.3:c.1817+1G>A		p.X606_splice	ENST00000341893				0	not done		possiblydamaging	
CUTC		inserm.fr	GRCh37	10	101507024	101507024	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370476.5:c.450G>A	p.Met150Ile	p.M150I	ENST00000370476	NM_015960.2	150	atG/atA	0	not done		benign	
CUTC		inserm.fr	GRCh37	10	101514362	101514362	+	synonymous_variant	Silent	SNP	G	A	A			CHC1055T																					ENST00000370476.5:c.678G>A	p.Arg226=	p.R226=	ENST00000370476	NM_015960.2	226	cgG/cgA	0	validated		synonymous	
LRRK1		inserm.fr	GRCh37	15	101528857	101528857	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM703T																					ENST00000388948.3:c.452G>A	p.Arg151Gln	p.R151Q	ENST00000388948	NM_024652.3	151	cGg/cAg	0	validated		benign	
LRRK1		inserm.fr	GRCh37	15	101550975	101550975	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1756T																					ENST00000388948.3:c.1214C>A	p.Ser405Tyr	p.S405Y	ENST00000388948	NM_024652.3	405	tCc/tAc	0	not done		probablydamaging	
ABCC2		inserm.fr	GRCh37	10	101560277	101560277	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370449.4:c.1166G>A	p.Gly389Asp	p.G389D	ENST00000370449	NM_000392.3	389	gGt/gAt	0	not done		probablydamaging	
SLC5A8		inserm.fr	GRCh37	12	101577937	101577937	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1749T																					ENST00000536262.2:c.1027G>T	p.Ala343Ser	p.A343S	ENST00000536262	NM_145913.3	343	Gcc/Tcc	0	not done		probablydamaging	
SLC5A8		inserm.fr	GRCh37	12	101581263	101581263	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1743T																					ENST00000536262.2:c.864G>T	p.Trp288Cys	p.W288C	ENST00000536262	NM_145913.3	288	tgG/tgT	0	not done		probablydamaging	
SLC5A8		inserm.fr	GRCh37	12	101581268	101581268	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2208T																					ENST00000536262.2:c.859C>T	p.Leu287Phe	p.L287F	ENST00000536262	NM_145913.3	287	Ctc/Ttc	0	not done		probablydamaging	
GALNT12		inserm.fr	GRCh37	9	101589147	101589147	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000375011.3:c.655G>A	p.Ala219Thr	p.A219T	ENST00000375011	NM_024642.4	219	Gcg/Acg	0	not done		possiblydamaging	
SLCO4C1		inserm.fr	GRCh37	5	101593740	101593740	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC891T																					ENST00000310954.6:c.1180G>T	p.Glu394Ter	p.E394*	ENST00000310954	NM_180991.4	394	Gaa/Taa	0	not done		damaging	
FGFRL1		inserm.fr	GRCh37	4	1016058	1016058	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000398484.2:c.147G>A	p.Leu49=	p.L49=	ENST00000398484		49	ctG/ctA	0	not done		synonymous	
TBC1D8		inserm.fr	GRCh37	2	101670625	101670625	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC912T									Valid												ENST00000376840.4:c.531G>T	p.Trp177Cys	p.W177C	ENST00000376840		177	tgG/tgT	0	validated		probablydamaging	
UTP20		inserm.fr	GRCh37	12	101745943	101745943	+	synonymous_variant	Silent	SNP	G	A	A			CHC121T																					ENST00000261637.4:c.4995G>A	p.Thr1665=	p.T1665=	ENST00000261637	NM_014503.2	1665	acG/acA	0	validated		synonymous	
COL15A1		inserm.fr	GRCh37	9	101749635	101749635	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000375001.3:c.708C>A	p.Asp236Glu	p.D236E	ENST00000375001	NM_001855.4	236	gaC/gaA	0	not done		benign	
COL15A1		inserm.fr	GRCh37	9	101763194	101763194	+	synonymous_variant	Silent	SNP	C	A	A			CHC1602T																					ENST00000375001.3:c.1026C>A	p.Gly342=	p.G342=	ENST00000375001	NM_001855.4	342	ggC/ggA	0	not done		synonymous	
UTP20		inserm.fr	GRCh37	12	101766697	101766697	+	synonymous_variant	Silent	SNP	T	A	A			BCM439T																					ENST00000261637.4:c.6834T>A	p.Gly2278=	p.G2278=	ENST00000261637	NM_014503.2	2278	ggT/ggA	0	validated		synonymous	
COL15A1		inserm.fr	GRCh37	9	101797359	101797359	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000375001.3:c.2143G>A	p.Gly715Arg	p.G715R	ENST00000375001	NM_001855.4	715	Ggg/Agg	0	not done		probablydamaging	
KIAA1377		inserm.fr	GRCh37	11	101834447	101834447	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1743T																					ENST00000263468.8:c.2681G>A	p.Gly894Asp	p.G894D	ENST00000263468	NM_020802.2	894	gGc/gAc	0	not done		benign	
VHL		inserm.fr	GRCh37	3	10183534	10183534	+	start_lost	Translation_Start_Site	SNP	G	A	A			CHC1566T																					ENST00000256474.2:c.3G>A	p.Met1?	p.M1?	ENST00000256474	NM_000551.3	1	atG/atA	0	not done		benign	
CUX1		inserm.fr	GRCh37	7	101842088	101842088	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC303T									Valid												ENST00000360264.3:c.1934C>A	p.Pro645Gln	p.P645Q	ENST00000360264	NM_001202543.1	645	cCa/cAa	0	validated		probablydamaging	
CUX1		inserm.fr	GRCh37	7	101845067	101845067	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000360264.3:c.2523G>A	p.Pro841=	p.P841=	ENST00000360264	NM_001202543.1	841	ccG/ccA	0	not done		synonymous	
KIAA1377		inserm.fr	GRCh37	11	101857624	101857624	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000263468.8:c.3096G>A	p.Glu1032=	p.E1032=	ENST00000263468	NM_020802.2	1032	gaG/gaA	0	not done		synonymous	
CUX1		inserm.fr	GRCh37	7	101891755	101891755	+	synonymous_variant	Silent	SNP	C	A	A			CHC322T																					ENST00000360264.3:c.3984C>A	p.Gly1328=	p.G1328=	ENST00000360264	NM_001202543.1	1328	ggC/ggA	0	validated		synonymous	
GPRASP1		inserm.fr	GRCh37	X	101912126	101912126	+	synonymous_variant	Silent	SNP	G	A	A			BCM275T																					ENST00000537097.1:c.3285G>A	p.Gly1095=	p.G1095=	ENST00000537097	NM_001184727.1	1095	ggG/ggA	0	validated		synonymous	
ERLIN1		inserm.fr	GRCh37	10	101915911	101915911	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC2029T																					ENST00000421367.2:c.736G>T	p.Glu246Ter	p.E246*	ENST00000421367	NM_006459.3	246	Gaa/Taa	0	not done		damaging	
RNF149		inserm.fr	GRCh37	2	101924670	101924670	+	synonymous_variant	Silent	SNP	C	A	A			CHC1756T																					ENST00000295317.3:c.381G>T	p.Ala127=	p.A127=	ENST00000295317	NM_173647.3	127	gcG/gcT	0	not done		synonymous	
CHUK		inserm.fr	GRCh37	10	101953819	101953819	+	synonymous_variant	Silent	SNP	G	A	A			CHC909T																					ENST00000370397.7:c.1896C>T	p.Ile632=	p.I632=	ENST00000370397	NM_001278.3	632	atC/atT	0	not done		synonymous	
GPRASP2		inserm.fr	GRCh37	X	101970376	101970376	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000543253.1:c.579G>A	p.Gln193=	p.Q193=	ENST00000543253	NM_001184874.2	193	caG/caA	0	not done		synonymous	
ALG2		inserm.fr	GRCh37	9	101981060	101981060	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM375T									Valid												ENST00000476832.1:c.407A>T	p.Tyr136Phe	p.Y136F	ENST00000476832	NM_033087.3	136	tAc/tTc	0	validated		probablydamaging	
RFX8		inserm.fr	GRCh37	2	102014113	102014113	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000428343.1:c.1319C>T	p.Ala440Val	p.A440V	ENST00000428343	NM_001145664.1	440	gCc/gTc	0	not done		benign	
RFX8		inserm.fr	GRCh37	2	102019114	102019114	+	synonymous_variant	Silent	SNP	G	A	A			CHC2362T																					ENST00000428343.1:c.1029C>T	p.Val343=	p.V343=	ENST00000428343	NM_001145664.1	343	gtC/gtT	0	validated		synonymous	
MYH13		inserm.fr	GRCh37	17	10204919	10204919	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB111T																					ENST00000418404.3:c.5769G>T	p.Lys1923Asn	p.K1923N	ENST00000418404		1923	aaG/aaT	0	validated		probablydamaging	
KRT8P11		inserm.fr	GRCh37	9	102068179	102068179	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC2141T																					ENST00000539942.1:n.786G>A		*262*	ENST00000539942				0	validated		synonymous	
ANGPTL6		inserm.fr	GRCh37	19	10206818	10206818	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2362T																					ENST00000253109.4:c.422A>T	p.Glu141Val	p.E141V	ENST00000253109	NM_031917.2	141	gAg/gTg	0	validated		benign	
KRT8P11		inserm.fr	GRCh37	9	102068253	102068253	+	non_coding_transcript_exon_variant	RNA	SNP	C	A	A			CHC2206T																					ENST00000539942.1:n.860C>A		*287*	ENST00000539942				0	validated			
MYBPC1		inserm.fr	GRCh37	12	102071944	102071944	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000452455.2:c.3153G>A	p.Gln1051=	p.Q1051=	ENST00000452455	NM_001254718.1	1051	caG/caA	0	not done		synonymous	
TMEM259		inserm.fr	GRCh37	19	1020823	1020823	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB109T									Valid												ENST00000356663.3:c.173G>T	p.Arg58Leu	p.R58L	ENST00000356663	NM_001033026.1	58	cGg/cTg	0	validated		probablydamaging	
TMEM259		inserm.fr	GRCh37	19	1020858	1020858	+	synonymous_variant	Silent	SNP	G	A	A			CHC510T																					ENST00000356663.3:c.138C>T	p.His46=	p.H46=	ENST00000356663	NM_001033026.1	46	caC/caT	0	validated		synonymous	
MYH13		inserm.fr	GRCh37	17	10209905	10209905	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000418404.3:c.5337C>T	p.Thr1779=	p.T1779=	ENST00000418404		1779	acC/acT	0	not done		synonymous	
SCD		inserm.fr	GRCh37	10	102107279	102107279	+	synonymous_variant	Silent	SNP	G	A	A			CHC1545T																					ENST00000370355.2:c.18G>A	p.Leu6=	p.L6=	ENST00000370355	NM_005063.4	6	ctG/ctA	0	not done		synonymous	
ZPLD1		inserm.fr	GRCh37	3	102153999	102153999	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC1211T																					ENST00000306176.1:c.40+1G>A		p.X14_splice	ENST00000306176	NM_175056.1			0	not done		possiblydamaging	
MYH13		inserm.fr	GRCh37	17	10216642	10216642	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC805T																					ENST00000418404.3:c.4014G>T	p.Gln1338His	p.Q1338H	ENST00000418404		1338	caG/caT	0	not done		probablydamaging	
ZPLD1		inserm.fr	GRCh37	3	102175138	102175138	+	synonymous_variant	Silent	SNP	C	A	A			CHC1725T																					ENST00000306176.1:c.477C>A	p.Ile159=	p.I159=	ENST00000306176	NM_175056.1	159	atC/atA	0	not done		synonymous	
ZPLD1		inserm.fr	GRCh37	3	102175196	102175196	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000306176.1:c.535G>A	p.Val179Ile	p.V179I	ENST00000306176	NM_175056.1	179	Gtt/Att	0	not done		possiblydamaging	
ZPLD1		inserm.fr	GRCh37	3	102189333	102189333	+	synonymous_variant	Silent	SNP	C	A	A			BCM723T																					ENST00000306176.1:c.1077C>A	p.Ile359=	p.I359=	ENST00000306176	NM_175056.1	359	atC/atA	0	validated		synonymous	
PPAN		inserm.fr	GRCh37	19	10221808	10221808	+	intron_variant	Intron	SNP	G	A	A			CHC2039Tbis																					ENST00000393796.4:c.1279+110G>A		*427*	ENST00000393796				0	validated		synonymous	
WNT8B		inserm.fr	GRCh37	10	102242247	102242247	+	synonymous_variant	Silent	SNP	C	A	A			CHC155T																					ENST00000343737.5:c.730C>A	p.Arg244=	p.R244=	ENST00000343737	NM_003393.3	244	Cgg/Agg	0	validated		synonymous	
SEC31B		inserm.fr	GRCh37	10	102250009	102250009	+	synonymous_variant	Silent	SNP	T	A	A			CHC2115T																					ENST00000370345.3:c.2721A>T	p.Thr907=	p.T907=	ENST00000370345	NM_015490.3	907	acA/acT	0	not done		synonymous	
OLFM3		inserm.fr	GRCh37	1	102269956	102269956	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000370103.4:c.1215C>T	p.Ser405=	p.S405=	ENST00000370103	NM_058170.2	405	tcC/tcT	0	not done		synonymous	
HIF1AN		inserm.fr	GRCh37	10	102295742	102295742	+	synonymous_variant	Silent	SNP	G	A	A			CHC1545T																					ENST00000299163.6:c.27G>A	p.Val9=	p.V9=	ENST00000299163	NM_017902.2	9	gtG/gtA	0	not done		synonymous	
PAM		inserm.fr	GRCh37	5	102309827	102309827	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1053T																					ENST00000304400.7:c.1170C>A	p.Phe390Leu	p.F390L	ENST00000304400		390	ttC/ttA	0	validated		benign	
BEX1		inserm.fr	GRCh37	X	102318022	102318022	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000372728.3:c.181C>T	p.Gln61Ter	p.Q61*	ENST00000372728	NM_018476.3	61	Cag/Tag	0	not done		damaging	
NXF3		inserm.fr	GRCh37	X	102334558	102334558	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000395065.3:c.1173C>T	p.Cys391=	p.C391=	ENST00000395065	NM_022052.1	391	tgC/tgT	0	not done		synonymous	
NXF3		inserm.fr	GRCh37	X	102338395	102338395	+	synonymous_variant	Silent	SNP	C	A	A			CHC805T																					ENST00000395065.3:c.471G>T	p.Val157=	p.V157=	ENST00000395065	NM_022052.1	157	gtG/gtT	0	not done		synonymous	
UBE4B		inserm.fr	GRCh37	1	10238837	10238837	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1083T																					ENST00000343090.6:c.3661G>A	p.Ala1221Thr	p.A1221T	ENST00000343090	NM_001105562.2	1221	Gca/Aca	0	validated		possiblydamaging	
GIN1		inserm.fr	GRCh37	5	102433456	102433456	+	synonymous_variant	Silent	SNP	G	A	A			CHC1185T																					ENST00000399004.2:c.669C>T	p.Gly223=	p.G223=	ENST00000399004	NM_017676.2	223	ggC/ggT	0	not done		synonymous	
DYNC1H1		inserm.fr	GRCh37	14	102446208	102446208	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1185T																					ENST00000360184.4:c.671G>A	p.Gly224Glu	p.G224E	ENST00000360184	NM_001376.4	224	gGa/gAa	0	not done		possiblydamaging	
DYNC1H1		inserm.fr	GRCh37	14	102453001	102453001	+	synonymous_variant	Silent	SNP	G	A	A			CHC794T																					ENST00000360184.4:c.2439G>A	p.Gln813=	p.Q813=	ENST00000360184	NM_001376.4	813	caG/caA	0	validated		synonymous	
DYNC1H1		inserm.fr	GRCh37	14	102457948	102457948	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1566T																					ENST00000360184.4:c.2953G>A	p.Glu985Lys	p.E985K	ENST00000360184	NM_001376.4	985	Gaa/Aaa	0	not done		benign	
MYH13		inserm.fr	GRCh37	17	10247391	10247391	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000418404.3:c.1620C>T	p.Cys540=	p.C540=	ENST00000418404		540	tgC/tgT	0	not done		synonymous	
MYH13		inserm.fr	GRCh37	17	10247405	10247405	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000418404.3:c.1606C>T	p.Leu536=	p.L536=	ENST00000418404		536	Ctg/Ttg	0	not done		synonymous	
MMP20		inserm.fr	GRCh37	11	102479707	102479707	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000260228.2:c.772C>T	p.Leu258Phe	p.L258F	ENST00000260228	NM_004771.3	258	Ctc/Ttc	0	not done		probablydamaging	
DYNC1H1		inserm.fr	GRCh37	14	102495965	102495965	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000360184.4:c.9558G>A	p.Leu3186=	p.L3186=	ENST00000360184	NM_001376.4	3186	ctG/ctA	0	not done		synonymous	
MMP20		inserm.fr	GRCh37	11	102496026	102496026	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000260228.2:c.25C>T	p.Leu9Phe	p.L9F	ENST00000260228	NM_004771.3	9	Ctt/Ttt	0	not done		benign	
DYNC1H1		inserm.fr	GRCh37	14	102505112	102505112	+	synonymous_variant	Silent	SNP	G	A	A			CHC1734T																					ENST00000360184.4:c.11133G>A	p.Gln3711=	p.Q3711=	ENST00000360184	NM_001376.4	3711	caG/caA	0	not done		synonymous	
CCT5		inserm.fr	GRCh37	5	10250545	10250545	+	synonymous_variant	Silent	SNP	T	A	A			CHC433T																					ENST00000280326.4:c.93T>A	p.Leu31=	p.L31=	ENST00000280326	NM_012073.3	31	ctT/ctA	0	validated		synonymous	
PAX2		inserm.fr	GRCh37	10	102509627	102509627	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000428433.1:c.168G>A	p.Arg56=	p.R56=	ENST00000428433	NM_003987.3	56	cgG/cgA	0	not done		synonymous	
DYNC1H1		inserm.fr	GRCh37	14	102510612	102510612	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			BCM339T									Valid												ENST00000360184.4:c.12686G>A	p.Gly4229Asp	p.G4229D	ENST00000360184	NM_001376.4	4229	gGc/gAc	0	validated		probablydamaging	
PPIP5K2		inserm.fr	GRCh37	5	102519005	102519005	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000321521.9:c.2993G>A	p.Gly998Asp	p.G998D	ENST00000321521		998	gGt/gAt	0	not done		possiblydamaging	
CCT5		inserm.fr	GRCh37	5	10254284	10254284	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1600T																					ENST00000280326.4:c.133G>A	p.Ala45Thr	p.A45T	ENST00000280326	NM_012073.3	45	Gca/Aca	0	not done		probablydamaging	
HSP90AA1		inserm.fr	GRCh37	14	102552683	102552683	+	synonymous_variant	Silent	SNP	C	A	A			CHC1205T																					ENST00000334701.7:c.399G>T	p.Pro133=	p.P133=	ENST00000334701	NM_001017963.2	133	ccG/ccT	0	not done		synonymous	
GRHL2		inserm.fr	GRCh37	8	102555629	102555629	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1725T																					ENST00000251808.3:c.181G>A	p.Ala61Thr	p.A61T	ENST00000251808	NM_024915.3	61	Gct/Act	0	not done		probablydamaging	
MMP27		inserm.fr	GRCh37	11	102573614	102573614	+	splice_acceptor_variant	Splice_Site	SNP	T	A	A			CHC433T									Valid												ENST00000260229.4:c.491-2A>T		p.X164_splice	ENST00000260229	NM_022122.2			0	validated		damaging	
MMP8		inserm.fr	GRCh37	11	102586104	102586104	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000236826.3:c.967C>T	p.Pro323Ser	p.P323S	ENST00000236826	NM_002424.2	323	Cca/Tca	0	not done		probablydamaging	
IRAK2		inserm.fr	GRCh37	3	10258728	10258728	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000256458.4:c.899G>A	p.Gly300Asp	p.G300D	ENST00000256458	NM_001570.3	300	gGt/gAt	0	not done		benign	
NGFRAP1		inserm.fr	GRCh37	X	102632447	102632447	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000372645.3:c.28G>A	p.Glu10Lys	p.E10K	ENST00000372645		10	Gag/Aag	0	not done		benign	
IL1R2		inserm.fr	GRCh37	2	102638669	102638669	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1191T																					ENST00000332549.3:c.709C>A	p.Pro237Thr	p.P237T	ENST00000332549	NM_004633.3	237	Cct/Act	0	not done		probablydamaging	
IL1R2		inserm.fr	GRCh37	2	102641014	102641014	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000332549.3:c.771G>A	p.Pro257=	p.P257=	ENST00000332549	NM_004633.3	257	ccG/ccA	0	validated		synonymous	
MMP10		inserm.fr	GRCh37	11	102641572	102641572	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000279441.4:c.1383C>T	p.Ala461=	p.A461=	ENST00000279441	NM_002425.2	461	gcC/gcT	0	not done		synonymous	
DNMT1		inserm.fr	GRCh37	19	10265302	10265302	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000340748.4:c.1744C>T	p.Arg582Trp	p.R582W	ENST00000340748		582	Cgg/Tgg	0	validated		probablydamaging	
MYH13		inserm.fr	GRCh37	17	10265700	10265700	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC884T									Valid												ENST00000418404.3:c.325C>T	p.Arg109Cys	p.R109C	ENST00000418404		109	Cgc/Tgc	0	validated		probablydamaging	
MMP3		inserm.fr	GRCh37	11	102708121	102708121	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC433T																					ENST00000299855.5:c.1241A>T	p.Lys414Met	p.K414M	ENST00000299855	NM_002422.3	414	aAg/aTg	0	validated		benign	
SEMA4G		inserm.fr	GRCh37	10	102738660	102738660	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1712T																					ENST00000210633.3:c.698G>A	p.Gly233Asp	p.G233D	ENST00000210633		233	gGt/gAt	0	not done		probablydamaging	
DNMT1		inserm.fr	GRCh37	19	10274036	10274036	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC314T									Valid												ENST00000340748.4:c.844G>T	p.Asp282Tyr	p.D282Y	ENST00000340748		282	Gat/Tat	0	validated		possiblydamaging	
MMP12		inserm.fr	GRCh37	11	102742666	102742666	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			BCM339T																					ENST00000532855.1:n.464C>T		*155*	ENST00000532855				0	validated		probablydamaging	
SEMA4G		inserm.fr	GRCh37	10	102743785	102743785	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1183T																					ENST00000210633.3:c.2429G>A	p.Gly810Glu	p.G810E	ENST00000210633		810	gGa/gAa	0	not done		possiblydamaging	
C10orf2		inserm.fr	GRCh37	10	102749000	102749000	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000311916.2:c.1033G>A	p.Ala345Thr	p.A345T	ENST00000311916	NM_021830.4	345	Gcc/Acc	0	not done		probablydamaging	
BANK1		inserm.fr	GRCh37	4	102751338	102751338	+	synonymous_variant	Silent	SNP	T	A	A			BCM275T																					ENST00000322953.4:c.444T>A	p.Ser148=	p.S148=	ENST00000322953	NM_017935.4	148	tcT/tcA	0	validated		synonymous	
DNMT1		inserm.fr	GRCh37	19	10277330	10277330	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T									Valid												ENST00000340748.4:c.787G>T	p.Asp263Tyr	p.D263Y	ENST00000340748		263	Gac/Tac	0	validated		probablydamaging	
MUC6		inserm.fr	GRCh37	11	1027755	1027755	+	synonymous_variant	Silent	SNP	G	A	A			BCB109T																					ENST00000421673.2:c.1911C>T	p.Gly637=	p.G637=	ENST00000421673	NM_005961.2	637	ggC/ggT	0	validated		synonymous	
PDZD7		inserm.fr	GRCh37	10	102777874	102777874	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1028T																					ENST00000370215.3:c.1504C>T	p.Arg502Cys	p.R502C	ENST00000370215	NM_024895.4	502	Cgc/Tgc	0	not done		benign	
IL1R1		inserm.fr	GRCh37	2	102791110	102791110	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM723T																					ENST00000410023.1:c.1055C>A	p.Ser352Tyr	p.S352Y	ENST00000410023		352	tCt/tAt	0	validated		possiblydamaging	
IL1RL2		inserm.fr	GRCh37	2	102851470	102851470	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2110Tbis																					ENST00000264257.2:c.1411G>A	p.Ala471Thr	p.A471T	ENST00000264257	NM_003854.2	471	Gcg/Acg	0	not done		probablydamaging	
TECPR2		inserm.fr	GRCh37	14	102891434	102891434	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC121T																					ENST00000359520.7:c.757G>A	p.Ala253Thr	p.A253T	ENST00000359520	NM_014844.3	253	Gcc/Acc	0	validated		benign	
TECPR2		inserm.fr	GRCh37	14	102900826	102900826	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM337T																					ENST00000359520.7:c.1672G>A	p.Asp558Asn	p.D558N	ENST00000359520	NM_014844.3	558	Gat/Aat	0	validated		benign	
BANK1		inserm.fr	GRCh37	4	102951260	102951260	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC155T									Valid												ENST00000322953.4:c.1738T>A	p.Phe580Ile	p.F580I	ENST00000322953	NM_017935.4	580	Ttt/Att	0	validated		probablydamaging	
BANK1		inserm.fr	GRCh37	4	102951398	102951398	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1182T																					ENST00000322953.4:c.1876G>A	p.Glu626Lys	p.E626K	ENST00000322953	NM_017935.4	626	Gaa/Aaa	0	not done		benign	
MYH8		inserm.fr	GRCh37	17	10297597	10297597	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC805T																					ENST00000403437.2:c.5135C>T	p.Ala1712Val	p.A1712V	ENST00000403437	NM_002472.2	1712	gCc/gTc	0	not done		benign	
PLP1		inserm.fr	GRCh37	X	103043405	103043405	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2206T																					ENST00000418604.1:c.662G>A	p.Gly221Asp	p.G221D	ENST00000418604	NM_001128834.1	221	gGc/gAc	0	not done		probablydamaging	
DYNC2H1		inserm.fr	GRCh37	11	103070134	103070134	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1611T																					ENST00000398093.3:c.8017G>A	p.Gly2673Arg	p.G2673R	ENST00000398093		2673	Gga/Aga	0	not done		benign	
MYH8		inserm.fr	GRCh37	17	10307764	10307764	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1154T																					ENST00000403437.2:c.2571A>T	p.Glu857Asp	p.E857D	ENST00000403437	NM_002472.2	857	gaA/gaT	0	not done		benign	
SLC9A4		inserm.fr	GRCh37	2	103095467	103095467	+	synonymous_variant	Silent	SNP	C	A	A			CHC1154T																					ENST00000295269.4:c.426C>A	p.Gly142=	p.G142=	ENST00000295269	NM_001011552.3	142	ggC/ggA	0	not done		synonymous	
RELN		inserm.fr	GRCh37	7	103123339	103123339	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC892T																					ENST00000428762.1:c.10261G>T	p.Asp3421Tyr	p.D3421Y	ENST00000428762	NM_005045.3	3421	Gac/Tac	0	not done		probablydamaging	
RELN		inserm.fr	GRCh37	7	103126724	103126724	+	synonymous_variant	Silent	SNP	G	A	A			CHC2034T																					ENST00000428762.1:c.9903C>T	p.Tyr3301=	p.Y3301=	ENST00000428762	NM_005045.3	3301	taC/taT	0	not done		synonymous	
DYNC2H1		inserm.fr	GRCh37	11	103128374	103128374	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000398093.3:c.10520G>A	p.Ser3507Asn	p.S3507N	ENST00000398093		3507	aGc/aAc	0	not done		probablydamaging	
SLC9A4		inserm.fr	GRCh37	2	103136368	103136368	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T									Valid												ENST00000295269.4:c.1772C>A	p.Ser591Tyr	p.S591Y	ENST00000295269	NM_001011552.3	591	tCc/tAc	0	validated		possiblydamaging	
DYNC2H1		inserm.fr	GRCh37	11	103157037	103157037	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000398093.3:c.10965G>A	p.Trp3655Ter	p.W3655*	ENST00000398093		3655	tgG/tgA	0	not done		damaging	
RELN		inserm.fr	GRCh37	7	103159953	103159953	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000428762.1:c.7679G>T	p.Arg2560Leu	p.R2560L	ENST00000428762	NM_005045.3	2560	cGa/cTa	0	not done		probablydamaging	
MYH8		inserm.fr	GRCh37	17	10322286	10322286	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1731T																					ENST00000403437.2:c.272A>T	p.Glu91Val	p.E91V	ENST00000403437	NM_002472.2	91	gAg/gTg	0	not done		possiblydamaging	
MYH8		inserm.fr	GRCh37	17	10322287	10322287	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1731T																					ENST00000403437.2:c.271G>T	p.Glu91Ter	p.E91*	ENST00000403437	NM_002472.2	91	Gag/Tag	0	not done		damaging	
H2BFWT		inserm.fr	GRCh37	X	103267977	103267977	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC799T																					ENST00000217926.5:c.256C>T	p.Arg86Cys	p.R86C	ENST00000217926	NM_001002916.4	86	Cgc/Tgc	0	not done		probablydamaging	
SLC9A2		inserm.fr	GRCh37	2	103274379	103274379	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC796T									Valid												ENST00000233969.2:c.646G>A	p.Ala216Thr	p.A216T	ENST00000233969	NM_003048.3	216	Gct/Act	0	validated		probablydamaging	
TMEFF1		inserm.fr	GRCh37	9	103279029	103279029	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000374879.4:c.536G>A	p.Cys179Tyr	p.C179Y	ENST00000374879	NM_003692.4	179	tGt/tAt	0	not done		probablydamaging	
TPP2		inserm.fr	GRCh37	13	103281885	103281885	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC451T																					ENST00000376065.4:c.1070T>A	p.Val357Asp	p.V357D	ENST00000376065	NM_003291.2	357	gTt/gAt	0	validated		probablydamaging	
TPP2		inserm.fr	GRCh37	13	103295670	103295670	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC912T																					ENST00000376065.4:c.2119T>A	p.Tyr707Asn	p.Y707N	ENST00000376065	NM_003291.2	707	Tat/Aat	0	validated		possiblydamaging	
TPP2		inserm.fr	GRCh37	13	103309464	103309464	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000376065.4:c.3011G>A	p.Ser1004Asn	p.S1004N	ENST00000376065	NM_003291.2	1004	aGc/aAc	0	not done		benign	
TMEFF1		inserm.fr	GRCh37	9	103323803	103323803	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000374879.4:c.899+1G>A		p.X300_splice	ENST00000374879	NM_003692.4			0	not done		damaging	
MFSD9		inserm.fr	GRCh37	2	103335404	103335404	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000258436.5:c.900G>T	p.Met300Ile	p.M300I	ENST00000258436	NM_032718.3	300	atG/atT	0	not done		probablydamaging	
MFSD9		inserm.fr	GRCh37	2	103335540	103335540	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC432T																					ENST00000258436.5:c.764G>T	p.Arg255Leu	p.R255L	ENST00000258436	NM_032718.3	255	cGc/cTc	0	not done		probablydamaging	
POLL		inserm.fr	GRCh37	10	103345785	103345785	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC796T									Valid												ENST00000370162.3:c.244C>T	p.His82Tyr	p.H82Y	ENST00000370162	NM_001174084.1	82	Cac/Tac	0	validated		probablydamaging	
COL11A1		inserm.fr	GRCh37	1	103354153	103354153	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM567T									Valid												ENST00000370096.3:c.4588C>T	p.Pro1530Ser	p.P1530S	ENST00000370096	NM_001854.3	1530	Cca/Tca	0	validated		possiblydamaging	
CCDC168		inserm.fr	GRCh37	13	103382966	103382966	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC879T																					ENST00000322527.2:c.6194C>T	p.Pro2065Leu	p.P2065L	ENST00000322527	NM_001146197.1	2065	cCa/cTa	0	not done		benign	
CCDC168		inserm.fr	GRCh37	13	103383744	103383744	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM375T																					ENST00000322527.2:c.5416A>T	p.Met1806Leu	p.M1806L	ENST00000322527	NM_001146197.1	1806	Atg/Ttg	0	validated		benign	
CCDC168		inserm.fr	GRCh37	13	103391759	103391759	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCM723T																								ENST00000322527	NM_001146197.1			0	validated			
SOX8		inserm.fr	GRCh37	16	1033949	1033949	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000293894.3:c.644G>A	p.Gly215Asp	p.G215D	ENST00000293894	NM_014587.3	215	gGc/gAc	0	not done		benign	
COL11A1		inserm.fr	GRCh37	1	103412493	103412493	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB111T									Valid												ENST00000370096.3:c.3188G>T	p.Gly1063Val	p.G1063V	ENST00000370096	NM_001854.3	1063	gGg/gTg	0	validated		probablydamaging	
COL11A1		inserm.fr	GRCh37	1	103427823	103427823	+	splice_acceptor_variant	Splice_Site	SNP	T	A	A			CHC879T																					ENST00000370096.3:c.3025-2A>T		p.X1009_splice	ENST00000370096	NM_001854.3			0	not done		possiblydamaging	
COL11A1		inserm.fr	GRCh37	1	103440441	103440441	+	splice_acceptor_variant	Splice_Site	SNP	T	A	A			CHC884T									Valid												ENST00000370096.3:c.2755-2A>T		p.X919_splice	ENST00000370096	NM_001854.3			0	validated		damaging	
COL11A1		inserm.fr	GRCh37	1	103453235	103453235	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370096.3:c.2456C>T	p.Ala819Val	p.A819V	ENST00000370096	NM_001854.3	819	gCa/gTa	0	not done		benign	
COL11A1		inserm.fr	GRCh37	1	103453283	103453283	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC614T																					ENST00000370096.3:c.2408A>T	p.Gln803Leu	p.Q803L	ENST00000370096	NM_001854.3	803	cAa/cTa	0	validated		benign	
COL11A1		inserm.fr	GRCh37	1	103461565	103461565	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T									Valid												ENST00000370096.3:c.2275C>T	p.Pro759Ser	p.P759S	ENST00000370096	NM_001854.3	759	Ccg/Tcg	0	not done		probablydamaging	
COL11A1		inserm.fr	GRCh37	1	103471644	103471644	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC320T									Valid												ENST00000370096.3:c.1771C>T	p.Pro591Ser	p.P591S	ENST00000370096	NM_001854.3	591	Cca/Tca	0	validated		probablydamaging	
COL11A1		inserm.fr	GRCh37	1	103471844	103471844	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1708T																					ENST00000370096.3:c.1711G>T	p.Gly571Cys	p.G571C	ENST00000370096	NM_001854.3	571	Ggt/Tgt	0	not done		probablydamaging	
BIVM		inserm.fr	GRCh37	13	103473478	103473478	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000257336.1:c.697G>A	p.Gly233Arg	p.G233R	ENST00000257336	NM_017693.3	233	Gga/Aga	0	not done		probablydamaging	
COL11A1		inserm.fr	GRCh37	1	103491383	103491383	+	intron_variant	Intron	SNP	T	A	A			CHC703T																					ENST00000370096.3:c.898-214A>T		*300*	ENST00000370096	NM_001854.3			0	not done		synonymous	
COL11A1		inserm.fr	GRCh37	1	103491393	103491393	+	intron_variant	Intron	SNP	C	A	A			CHC1626T																					ENST00000370096.3:c.898-224G>T		*300*	ENST00000370096	NM_001854.3			0	not done		benign	
NFKB1		inserm.fr	GRCh37	4	103517294	103517294	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC1545T																					ENST00000226574.4:c.1301-1G>A		p.X434_splice	ENST00000226574	NM_003998.3			0	not done		damaging	
FGF8		inserm.fr	GRCh37	10	103530133	103530133	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC451T																					ENST00000320185.2:c.688C>T	p.Arg230Cys	p.R230C	ENST00000320185	NM_033163.3	230	Cgc/Tgc	0	validated		probablydamaging	
COL11A1		inserm.fr	GRCh37	1	103548360	103548360	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC1747T																					ENST00000370096.3:c.274+1G>T		p.X92_splice	ENST00000370096	NM_001854.3			0	not done		damaging	
COL11A1		inserm.fr	GRCh37	1	103548483	103548483	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370096.3:c.152C>T	p.Pro51Leu	p.P51L	ENST00000370096	NM_001854.3	51	cCa/cTa	0	not done		probablydamaging	
COL11A1		inserm.fr	GRCh37	1	103548526	103548526	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC796T																					ENST00000370096.3:c.109G>T	p.Ala37Ser	p.A37S	ENST00000370096	NM_001854.3	37	Gct/Tct	0	validated		benign	
KIF1B		inserm.fr	GRCh37	1	10355728	10355728	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000263934.6:c.1543G>A	p.Ala515Thr	p.A515T	ENST00000263934	NM_015074.3	515	Gca/Aca	0	not done		possiblydamaging	
MYH4		inserm.fr	GRCh37	17	10356172	10356172	+	synonymous_variant	Silent	SNP	T	A	A			CHC1732T																					ENST00000255381.2:c.3189A>T	p.Leu1063=	p.L1063=	ENST00000255381	NM_017533.2	1063	ctA/ctT	0	not done		synonymous	
EXOC3L4		inserm.fr	GRCh37	14	103568965	103568965	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC609T																					ENST00000380069.3:c.905C>A	p.Ala302Glu	p.A302E	ENST00000380069	NM_001077594.1	302	gCg/gAg	0	validated		benign	
COL11A1		inserm.fr	GRCh37	1	103573728	103573728	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370096.3:c.7C>T	p.Pro3Ser	p.P3S	ENST00000370096	NM_001854.3	3	Ccg/Tcg	0	not done		benign	
KCNIP2		inserm.fr	GRCh37	10	103589701	103589701	+	splice_acceptor_variant	Splice_Site	SNP	T	A	A			BCM703T									Valid												ENST00000461105.1:c.170-2A>T		p.X57_splice	ENST00000461105				0	validated		damaging	
TNFAIP2		inserm.fr	GRCh37	14	103601648	103601648	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000560869.1:c.1916G>A	p.Gly639Glu	p.G639E	ENST00000560869		639	gGg/gAg	0	not done		probablydamaging	
MANBA		inserm.fr	GRCh37	4	103645087	103645087	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB151T																					ENST00000226578.4:c.310G>T	p.Asp104Tyr	p.D104Y	ENST00000226578	NM_005908.3	104	Gat/Tat	0	validated		probablydamaging	
MANBA		inserm.fr	GRCh37	4	103645088	103645088	+	synonymous_variant	Silent	SNP	C	A	A			BCB151T																					ENST00000226578.4:c.309G>T	p.Val103=	p.V103=	ENST00000226578	NM_005908.3	103	gtG/gtT	0	validated		synonymous	
MYH4		inserm.fr	GRCh37	17	10368834	10368834	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1530T																					ENST00000255381.2:c.430C>T	p.Arg144Ter	p.R144*	ENST00000255381	NM_017533.2	144	Cga/Tga	0	not done		damaging	
C12orf42		inserm.fr	GRCh37	12	103700000	103700000	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC805T																					ENST00000378113.2:c.383G>T	p.Arg128Leu	p.R128L	ENST00000378113	NM_001278419.1	128	cGt/cTt	0	not done		benign	
PDGFD		inserm.fr	GRCh37	11	103870946	103870946	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1736T																					ENST00000393158.2:c.162G>T	p.Glu54Asp	p.E54D	ENST00000393158		54	gaG/gaT	0	not done		probablydamaging	
PPRC1		inserm.fr	GRCh37	10	103907032	103907032	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000278070.2:c.4283G>A	p.Arg1428His	p.R1428H	ENST00000278070	NM_015062.3	1428	cGt/cAt	0	validated		probablydamaging	
DDI1		inserm.fr	GRCh37	11	103908358	103908358	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC121T									Valid												ENST00000302259.3:c.808C>A	p.Gln270Lys	p.Q270K	ENST00000302259	NM_001001711.2	270	Cag/Aag	0	validated		possiblydamaging	
ICAM1		inserm.fr	GRCh37	19	10394157	10394157	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000264832.3:c.332G>A	p.Trp111Ter	p.W111*	ENST00000264832	NM_000201.2	111	tGg/tAg	0	not done		damaging	
ICAM4		inserm.fr	GRCh37	19	10397841	10397841	+	synonymous_variant	Silent	SNP	C	A	A			CHC1205T																					ENST00000340992.4:c.153C>A	p.Arg51=	p.R51=	ENST00000340992	NM_001039132.2	51	cgC/cgA	0	not done		synonymous	
PITX3		inserm.fr	GRCh37	10	103990775	103990775	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000370002.3:c.405G>T	p.Ala135=	p.A135=	ENST00000370002	NM_005029.3	135	gcG/gcT	0	not done		synonymous	
APOPT1		inserm.fr	GRCh37	14	104029439	104029439	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000409074.2:c.140G>A	p.Arg47His	p.R47H	ENST00000409074	NM_032374.3	47	cGc/cAc	0	not done			
STAB2		inserm.fr	GRCh37	12	104034021	104034021	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC437T																					ENST00000388887.2:c.1027C>A	p.Pro343Thr	p.P343T	ENST00000388887	NM_017564.9	343	Cca/Aca	0	not done		probablydamaging	
MYH1		inserm.fr	GRCh37	17	10404694	10404694	+	synonymous_variant	Silent	SNP	G	A	A			CHC798T																					ENST00000226207.5:c.3471C>T	p.Ala1157=	p.A1157=	ENST00000226207	NM_005963.3	1157	gcC/gcT	0	validated		synonymous	
STAB2		inserm.fr	GRCh37	12	104049359	104049359	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000388887.2:c.1734G>A	p.Glu578=	p.E578=	ENST00000388887	NM_017564.9	578	gaG/gaA	0	not done		damaging	
ICAM5		inserm.fr	GRCh37	19	10406198	10406198	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000221980.4:c.2407G>A	p.Gly803Ser	p.G803S	ENST00000221980	NM_003259.3	803	Ggc/Agc	0	not done		probablydamaging	
ATP6V1C1		inserm.fr	GRCh37	8	104063372	104063372	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000395862.3:c.381G>A	p.Lys127=	p.K127=	ENST00000395862	NM_001695.4	127	aaG/aaA	0	not done		damaging	
STAB2		inserm.fr	GRCh37	12	104067775	104067775	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM337T																					ENST00000388887.2:c.2462G>A	p.Arg821Lys	p.R821K	ENST00000388887	NM_017564.9	821	aGa/aAa	0	validated		benign	
CENPE		inserm.fr	GRCh37	4	104115414	104115414	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB111T																					ENST00000265148.3:c.665G>T	p.Cys222Phe	p.C222F	ENST00000265148	NM_001813.2	222	tGt/tTt	0	validated		benign	
KLC1		inserm.fr	GRCh37	14	104121150	104121150	+	synonymous_variant	Silent	SNP	G	A	A			CHC2048T																					ENST00000452929.2:c.249G>A	p.Leu83=	p.L83=	ENST00000452929	NM_001130107.1	83	ctG/ctA	0	not done		synonymous	
BAAT		inserm.fr	GRCh37	9	104125084	104125084	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T																					ENST00000259407.2:c.883C>T	p.Leu295Phe	p.L295F	ENST00000259407	NM_001127610.1	295	Ctc/Ttc	0	validated		benign	
STAB2		inserm.fr	GRCh37	12	104125384	104125384	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1725T																					ENST00000388887.2:c.5254G>A	p.Gly1752Ser	p.G1752S	ENST00000388887	NM_017564.9	1752	Ggc/Agc	0	not done		probablydamaging	
MYH1		inserm.fr	GRCh37	17	10412813	10412813	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC451T																					ENST00000226207.5:c.1576C>T	p.Leu526Phe	p.L526F	ENST00000226207	NM_005963.3	526	Ctc/Ttc	0	validated		probablydamaging	
KLC1		inserm.fr	GRCh37	14	104128524	104128524	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000452929.2:c.564G>A	p.Gly188=	p.G188=	ENST00000452929	NM_001130107.1	188	ggG/ggA	0	not done		synonymous	
STAB2		inserm.fr	GRCh37	12	104144417	104144417	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1717T																					ENST00000388887.2:c.6499G>A	p.Glu2167Lys	p.E2167K	ENST00000388887	NM_017564.9	2167	Gag/Aag	0	not done		benign	
C8orf56		inserm.fr	GRCh37	8	104145432	104145432	+	synonymous_variant	Silent	SNP	G	A	A			BCM617T																					ENST00000436771.1:c.141C>T	p.Leu47=	p.L47=	ENST00000436771		47	ctC/ctT	0	validated		synonymous	
STAB2		inserm.fr	GRCh37	12	104156163	104156163	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC799T																					ENST00000388887.2:c.7471G>A	p.Gly2491Ser	p.G2491S	ENST00000388887	NM_017564.9	2491	Ggc/Agc	0	not done		possiblydamaging	
MYH1		inserm.fr	GRCh37	17	10415838	10415838	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000226207.5:c.1034C>T	p.Thr345Ile	p.T345I	ENST00000226207	NM_005963.3	345	aCt/aTt	0	not done		benign	
AMY2A		inserm.fr	GRCh37	1	104160220	104160220	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC434T									Valid												ENST00000414303.2:c.158G>A	p.Gly53Glu	p.G53E	ENST00000414303	NM_000699.2	53	gGa/gAa	0	validated		probablydamaging	
XRCC3		inserm.fr	GRCh37	14	104165475	104165475	+	synonymous_variant	Silent	SNP	C	A	A			CHC155T																					ENST00000553264.1:c.816G>T	p.Pro272=	p.P272=	ENST00000553264		272	ccG/ccT	0	validated		synonymous	
PSD		inserm.fr	GRCh37	10	104174840	104174840	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1035T									Valid												ENST00000020673.5:c.904G>T	p.Asp302Tyr	p.D302Y	ENST00000020673	NM_001270966.1	302	Gat/Tat	0	validated		probablydamaging	
FBXL15		inserm.fr	GRCh37	10	104181185	104181185	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC793T																					ENST00000224862.3:c.128G>A	p.Arg43Gln	p.R43Q	ENST00000224862	NM_024326.3	43	cGg/cAg	0	validated		benign	
MYH1		inserm.fr	GRCh37	17	10419532	10419532	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB231T																					ENST00000226207.5:c.332C>T	p.Ala111Val	p.A111V	ENST00000226207	NM_005963.3	111	gCa/gTa	0	validated		benign	
MYH1		inserm.fr	GRCh37	17	10419791	10419791	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM371T																					ENST00000226207.5:c.169G>T	p.Gly57Trp	p.G57W	ENST00000226207	NM_005963.3	57	Ggg/Tgg	0	validated		possiblydamaging	
RNF20		inserm.fr	GRCh37	9	104314494	104314494	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC798T																					ENST00000389120.3:c.1480G>A	p.Val494Ile	p.V494I	ENST00000389120	NM_019592.6	494	Gtc/Atc	0	validated		probablydamaging	
GLT8D2		inserm.fr	GRCh37	12	104383344	104383344	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC799T																					ENST00000360814.4:c.892G>T	p.Asp298Tyr	p.D298Y	ENST00000360814	NM_031302.3	298	Gat/Tat	0	not done		probablydamaging	
CTHRC1		inserm.fr	GRCh37	8	104388166	104388166	+	synonymous_variant	Silent	SNP	C	A	A			CHC798T																					ENST00000330295.5:c.351C>A	p.Gly117=	p.G117=	ENST00000330295	NM_138455.3	117	ggC/ggA	0	validated		synonymous	
ARL3		inserm.fr	GRCh37	10	104436683	104436683	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC301T									Valid												ENST00000260746.5:c.517G>T	p.Val173Phe	p.V173F	ENST00000260746	NM_004311.3	173	Gtc/Ttc	0	validated		benign	
DCAF13		inserm.fr	GRCh37	8	104438374	104438374	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000297579.5:c.924+1G>A		p.X308_splice	ENST00000297579	NM_015420.6			0	not done		damaging	
ATP2B2		inserm.fr	GRCh37	3	10444021	10444021	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1192T																					ENST00000360273.2:c.409G>T	p.Ala137Ser	p.A137S	ENST00000360273	NM_001001331.2	137	Gcc/Tcc	0	not done		benign	
TDRD9		inserm.fr	GRCh37	14	104441835	104441835	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000409874.4:c.956C>A	p.Pro319His	p.P319H	ENST00000409874	NM_153046.2	319	cCc/cAc	0	not done		probablydamaging	
ZNF518B		inserm.fr	GRCh37	4	10445491	10445491	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1152T																					ENST00000326756.3:c.2462C>T	p.Ser821Leu	p.S821L	ENST00000326756	NM_053042.2	821	tCa/tTa	0	not done		probablydamaging	
TDRD9		inserm.fr	GRCh37	14	104457551	104457551	+	synonymous_variant	Silent	SNP	G	A	A			CHC155T																					ENST00000409874.4:c.1170G>A	p.Val390=	p.V390=	ENST00000409874	NM_153046.2	390	gtG/gtA	0	validated		synonymous	
MYH2		inserm.fr	GRCh37	17	10446219	10446219	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2112T																					ENST00000245503.5:c.877A>T	p.Thr293Ser	p.T293S	ENST00000245503	NM_017534.5	293	Aca/Tca	0	not done		benign	
ASPG		inserm.fr	GRCh37	14	104565259	104565259	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000551177.1:c.583G>A	p.Ala195Thr	p.A195T	ENST00000551177	NM_001080464.2	195	Gca/Aca	0	validated		probablydamaging	
ASPG		inserm.fr	GRCh37	14	104570730	104570730	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000551177.1:c.843G>A	p.Gln281=	p.Q281=	ENST00000551177	NM_001080464.2	281	caG/caA	0	not done		synonymous	
RP1L1		inserm.fr	GRCh37	8	10465917	10465917	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1749T																					ENST00000382483.3:c.5691G>T	p.Trp1897Cys	p.W1897C	ENST00000382483	NM_178857.5	1897	tgG/tgT	0	not done		benign	
RP1L1		inserm.fr	GRCh37	8	10466029	10466029	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000382483.3:c.5579C>T	p.Ala1860Val	p.A1860V	ENST00000382483	NM_178857.5	1860	gCc/gTc	0	not done		possiblydamaging	
EID3		inserm.fr	GRCh37	12	104697847	104697847	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000527879.1:c.135G>A	p.Arg45=	p.R45=	ENST00000527879	NM_001008394.2	45	cgG/cgA	0	not done		synonymous	
RP1L1		inserm.fr	GRCh37	8	10470734	10470734	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000382483.3:c.874C>T	p.His292Tyr	p.H292Y	ENST00000382483	NM_178857.5	292	Cac/Tac	0	not done		benign	
MLL5		inserm.fr	GRCh37	7	104715229	104715229	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000311117.3:c.696G>A	p.Gly232=	p.G232=	ENST00000311117	NM_182931.2	232	ggG/ggA	0	validated		synonymous	
TYK2		inserm.fr	GRCh37	19	10472779	10472779	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM791T																					ENST00000525621.1:c.1748G>T	p.Arg583Leu	p.R583L	ENST00000525621	NM_003331.4	583	cGg/cTg	0	validated		possiblydamaging	
MLL5		inserm.fr	GRCh37	7	104753673	104753673	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM567T																					ENST00000311117.3:c.5470G>A	p.Val1824Ile	p.V1824I	ENST00000311117	NM_182931.2	1824	Gtt/Att	0	validated		benign	
CASP5		inserm.fr	GRCh37	11	104872850	104872850	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2111T																					ENST00000393141.2:c.661G>T	p.Ala221Ser	p.A221S	ENST00000393141	NM_004347.3	221	Gca/Tca	0	not done		benign	
APITD1		inserm.fr	GRCh37	1	10493991	10493991	+	synonymous_variant	Silent	SNP	G	A	A			CHC2115T																					ENST00000400900.2:c.144G>A	p.Ala48=	p.A48=	ENST00000400900		48	gcG/gcA	0	not done		synonymous	
CHST11		inserm.fr	GRCh37	12	104995745	104995745	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000303694.5:c.180G>A	p.Leu60=	p.L60=	ENST00000303694	NM_018413.5	60	ctG/ctA	0	not done		synonymous	
RPEL1		inserm.fr	GRCh37	10	105006317	105006317	+	synonymous_variant	Silent	SNP	G	A	A			CHC1192T																					ENST00000441178.2:c.564G>A	p.Glu188=	p.E188=	ENST00000441178	NM_001143909.1	188	gaG/gaA	0	not done		synonymous	
NRK		inserm.fr	GRCh37	X	105066889	105066889	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1602T																					ENST00000428173.2:c.51C>A	p.His17Gln	p.H17Q	ENST00000428173		17	caC/caA	0	not done		benign	
RP11-1C1.5		inserm.fr	GRCh37	5	10509179	10509179	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2115T																					ENST00000506021.1:c.118A>T	p.Ser40Cys	p.S40C	ENST00000506021		40	Agc/Tgc	0	not done			
NRK		inserm.fr	GRCh37	X	105150412	105150412	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1180T																					ENST00000428173.2:c.851G>A	p.Arg284His	p.R284H	ENST00000428173		284	cGt/cAt	0	validated		probablydamaging	
NRK		inserm.fr	GRCh37	X	105153313	105153313	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000428173.2:c.1683G>A	p.Glu561=	p.E561=	ENST00000428173		561	gaG/gaA	0	not done		synonymous	
INF2		inserm.fr	GRCh37	14	105180592	105180592	+	synonymous_variant	Silent	SNP	C	A	A			CHC796T																					ENST00000392634.4:c.3093C>A	p.Ala1031=	p.A1031=	ENST00000392634	NM_022489.3	1031	gcC/gcA	0	validated		synonymous	
RINT1		inserm.fr	GRCh37	7	105187650	105187650	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000257700.2:c.709G>A	p.Ala237Thr	p.A237T	ENST00000257700	NM_021930.4	237	Gca/Aca	0	not done		benign	
ADSSL1		inserm.fr	GRCh37	14	105196275	105196275	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1211T																					ENST00000332972.5:c.46G>A	p.Gly16Arg	p.G16R	ENST00000332972	NM_199165.1	16	Ggg/Agg	0	validated		probablydamaging	
ADSSL1		inserm.fr	GRCh37	14	105196307	105196307	+	synonymous_variant	Silent	SNP	C	A	A			CHC796T																					ENST00000332972.5:c.78C>A	p.Leu26=	p.L26=	ENST00000332972	NM_199165.1	26	ctC/ctA	0	validated		synonymous	
CALHM2		inserm.fr	GRCh37	10	105207055	105207055	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000260743.5:c.826C>T	p.Pro276Ser	p.P276S	ENST00000260743	NM_015916.4	276	Cca/Tca	0	not done		benign	
CALHM1		inserm.fr	GRCh37	10	105215429	105215429	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC301T									Valid												ENST00000329905.5:c.631C>T	p.Gln211Ter	p.Q211*	ENST00000329905	NM_001001412.3	211	Cag/Tag	0	validated		damaging	
PDE4A		inserm.fr	GRCh37	19	10528435	10528435	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC892T																								ENST00000352831	NM_001111307.1			0	not done			
PDE4A		inserm.fr	GRCh37	19	10531616	10531616	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM399T									Valid												ENST00000352831.6:c.176G>A	p.Arg59Gln	p.R59Q	ENST00000352831	NM_001111307.1	59	cGg/cAg	0	validated		probablydamaging	
DFFA		inserm.fr	GRCh37	1	10532410	10532410	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000377038.3:c.106G>T	p.Ala36Ser	p.A36S	ENST00000377038	NM_004401.2	36	Gcc/Tcc	0	not done		probablydamaging	
NEURL		inserm.fr	GRCh37	10	105331540	105331540	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369780.4:c.610G>A	p.Val204Met	p.V204M	ENST00000369780	NM_004210.4	204	Gtg/Atg	0	not done		possiblydamaging	
CEP170B		inserm.fr	GRCh37	14	105342656	105342656	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000414716.3:c.169G>A	p.Val57Met	p.V57M	ENST00000414716	NM_001112726.2	57	Gtg/Atg	0	not done		probablydamaging	
CEP170B		inserm.fr	GRCh37	14	105360641	105360641	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC789T																					ENST00000414716.3:c.4291G>A	p.Gly1431Arg	p.G1431R	ENST00000414716	NM_001112726.2	1431	Ggg/Agg	0	not done		probablydamaging	
CEP170B		inserm.fr	GRCh37	14	105360677	105360677	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC736T																					ENST00000414716.3:c.4327G>A	p.Ala1443Thr	p.A1443T	ENST00000414716	NM_001112726.2	1443	Gcc/Acc	0	validated		possiblydamaging	
CEP170B		inserm.fr	GRCh37	14	105361278	105361278	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000414716.3:c.4648G>A	p.Glu1550Lys	p.E1550K	ENST00000414716	NM_001112726.2	1550	Gag/Aag	0	not done		probablydamaging	
SH3PXD2A		inserm.fr	GRCh37	10	105362355	105362355	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1616T																					ENST00000355946.2:c.2536G>T	p.Glu846Ter	p.E846*	ENST00000355946	NM_014631.2	846	Gag/Tag	0	not done		damaging	
SH3PXD2A		inserm.fr	GRCh37	10	105362984	105362984	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM337T																					ENST00000355946.2:c.1907A>T	p.Lys636Met	p.K636M	ENST00000355946	NM_014631.2	636	aAg/aTg	0	validated		probablydamaging	
DCSTAMP		inserm.fr	GRCh37	8	105367288	105367288	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2215T																					ENST00000297581.2:c.1213T>A	p.Ser405Thr	p.S405T	ENST00000297581	NM_030788.3	405	Tca/Aca	0	not done		probablydamaging	
AHNAK2		inserm.fr	GRCh37	14	105414895	105414895	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1035T																					ENST00000333244.5:c.6893C>T	p.Ala2298Val	p.A2298V	ENST00000333244	NM_138420.2	2298	gCg/gTg	0	validated		possiblydamaging	
AHNAK2		inserm.fr	GRCh37	14	105419198	105419198	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC798T									Valid												ENST00000333244.5:c.2590G>T	p.Glu864Ter	p.E864*	ENST00000333244	NM_138420.2	864	Gag/Tag	0	validated		damaging	
ABCA7		inserm.fr	GRCh37	19	1054257	1054257	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000263094.6:c.3643G>A	p.Ala1215Thr	p.A1215T	ENST00000263094	NM_019112.3	1215	Gca/Aca	0	not done		benign	
CLNK		inserm.fr	GRCh37	4	10543656	10543656	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000226951.6:c.481C>T	p.Pro161Ser	p.P161S	ENST00000226951	NM_052964.2	161	Cca/Tca	0	not done		probablydamaging	
DPYS		inserm.fr	GRCh37	8	105441798	105441798	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2200T																					ENST00000351513.2:c.925G>T	p.Asp309Tyr	p.D309Y	ENST00000351513	NM_001385.2	309	Gac/Tac	0	not done		benign	
MYH3		inserm.fr	GRCh37	17	10549027	10549027	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1725T																					ENST00000583535.1:c.1138G>T	p.Glu380Ter	p.E380*	ENST00000583535	NM_002470.3	380	Gaa/Taa	0	not done		damaging	
HPCAL1		inserm.fr	GRCh37	2	10559934	10559934	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000381765.3:c.51G>A	p.Arg17=	p.R17=	ENST00000381765	NM_134421.2	17	cgG/cgA	0	not done		synonymous	
PDE4A		inserm.fr	GRCh37	19	10561575	10561575	+	synonymous_variant	Silent	SNP	C	A	A			CHC253T																					ENST00000352831.6:c.741C>A	p.Thr247=	p.T247=	ENST00000352831	NM_001111307.1	247	acC/acA	0	validated		synonymous	
BRF1		inserm.fr	GRCh37	14	105688244	105688244	+	synonymous_variant	Silent	SNP	G	A	A			CHC1738T																					ENST00000546474.1:c.1056C>T	p.Thr352=	p.T352=	ENST00000546474	NM_001519.3	352	acC/acT	0	not done		synonymous	
SYPL1		inserm.fr	GRCh37	7	105733500	105733500	+	synonymous_variant	Silent	SNP	T	A	A			CHC892T																					ENST00000011473.2:c.540A>T	p.Ile180=	p.I180=	ENST00000011473	NM_006754.3	180	atA/atT	0	not done		synonymous	
BRF1		inserm.fr	GRCh37	14	105739131	105739131	+	synonymous_variant	Silent	SNP	C	A	A			BCB151T																					ENST00000546474.1:c.366G>T	p.Leu122=	p.L122=	ENST00000546474	NM_001519.3	122	ctG/ctT	0	validated		synonymous	
ABCA7		inserm.fr	GRCh37	19	1057429	1057429	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC1743T																					ENST00000263094.6:c.4880+1G>A		p.X1627_splice	ENST00000263094	NM_019112.3			0	not done		damaging	
LYVE1		inserm.fr	GRCh37	11	10580685	10580685	+	synonymous_variant	Silent	SNP	G	A	A			BCM397T																					ENST00000256178.3:c.942C>T	p.Thr314=	p.T314=	ENST00000256178	NM_006691.3	314	acC/acT	0	validated		synonymous	
COL17A1		inserm.fr	GRCh37	10	105816788	105816788	+	synonymous_variant	Silent	SNP	G	A	A			CHC433T																					ENST00000353479.5:c.1410C>T	p.Gly470=	p.G470=	ENST00000353479	NM_000494.3	470	ggC/ggT	0	validated		synonymous	
COL17A1		inserm.fr	GRCh37	10	105830234	105830234	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000353479.5:c.557C>T	p.Pro186Leu	p.P186L	ENST00000353479	NM_000494.3	186	cCc/cTc	0	not done		probablydamaging	
CXorf57		inserm.fr	GRCh37	X	105876239	105876239	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000372548.4:c.1166G>A	p.Arg389Gln	p.R389Q	ENST00000372548	NM_018015.5	389	cGg/cAg	0	not done		probablydamaging	
TEX22		inserm.fr	GRCh37	14	105878157	105878157	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM617T																					ENST00000451127.2:c.440C>A	p.Ser147Ter	p.S147*	ENST00000451127	NM_001195082.1	147	tCa/tAa	0	validated		damaging	
MSANTD4		inserm.fr	GRCh37	11	105880493	105880493	+	synonymous_variant	Silent	SNP	G	A	A			CHC051T																					ENST00000301919.4:c.807C>T	p.Val269=	p.V269=	ENST00000301919	NM_032424.1	269	gtC/gtT	0	validated		synonymous	
MSANTD4		inserm.fr	GRCh37	11	105881475	105881475	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000301919.4:c.170C>T	p.Ala57Val	p.A57V	ENST00000301919	NM_032424.1	57	gCt/gTt	0	not done		probablydamaging	
SCO1		inserm.fr	GRCh37	17	10590090	10590090	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM265T									Valid												ENST00000255390.5:c.725G>T	p.Arg242Ile	p.R242I	ENST00000255390	NM_004589.2	242	aGa/aTa	0	validated		probablydamaging	
CXorf57		inserm.fr	GRCh37	X	105905511	105905511	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC155T																					ENST00000372548.4:c.2245G>A	p.Gly749Arg	p.G749R	ENST00000372548	NM_018015.5	749	Gga/Aga	0	validated		probablydamaging	
KBTBD3		inserm.fr	GRCh37	11	105924590	105924590	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1616T																					ENST00000526793.1:c.826A>T	p.Lys276Ter	p.K276*	ENST00000526793	NM_152433.3	276	Aag/Tag	0	not done		damaging	
MTA1		inserm.fr	GRCh37	14	105924687	105924687	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000331320.7:c.631G>A	p.Asp211Asn	p.D211N	ENST00000331320	NM_004689.3	211	Gac/Aac	0	not done		probablydamaging	
AASDHPPT		inserm.fr	GRCh37	11	105948583	105948583	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000278618.4:c.146G>A	p.Gly49Asp	p.G49D	ENST00000278618	NM_015423.2	49	gGc/gAc	0	not done		benign	
AASDHPPT		inserm.fr	GRCh37	11	105962073	105962073	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1191T																					ENST00000278618.4:c.562G>A	p.Gly188Ser	p.G188S	ENST00000278618	NM_015423.2	188	Ggt/Agt	0	not done		probablydamaging	
WDR96		inserm.fr	GRCh37	10	105965760	105965760	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000357060.3:c.924C>T	p.Thr308=	p.T308=	ENST00000357060	NM_025145.5	308	acC/acT	0	not done		synonymous	
KEAP1		inserm.fr	GRCh37	19	10597426	10597426	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC301T									Valid												ENST00000171111.5:c.1777G>T	p.Glu593Ter	p.E593*	ENST00000171111	NM_203500.1	593	Gag/Tag	0	validated		damaging	
TMEM121		inserm.fr	GRCh37	14	105995281	105995281	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000392519.2:c.110G>A	p.Arg37His	p.R37H	ENST00000392519	NM_025268.2	37	cGc/cAc	0	not done		probablydamaging	
KEAP1		inserm.fr	GRCh37	19	10600531	10600531	+	splice_acceptor_variant	Splice_Site	SNP	T	A	A			CHC1152T									Valid												ENST00000171111.5:c.1326-2A>T		p.X442_splice	ENST00000171111	NM_203500.1			0	not done		possiblydamaging	
KEAP1		inserm.fr	GRCh37	19	10602588	10602588	+	synonymous_variant	Silent	SNP	G	A	A			CHC2128T									Valid												ENST00000171111.5:c.990C>T	p.Thr330=	p.T330=	ENST00000171111	NM_203500.1	330	acC/acT	0	not done		synonymous	
KEAP1		inserm.fr	GRCh37	19	10602620	10602620	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2200T																					ENST00000171111.5:c.958C>T	p.Arg320Trp	p.R320W	ENST00000171111	NM_203500.1	320	Cgg/Tgg	0	not done		probablydamaging	
KEAP1		inserm.fr	GRCh37	19	10602767	10602767	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB301T									Valid												ENST00000171111.5:c.811G>T	p.Val271Leu	p.V271L	ENST00000171111	NM_203500.1	271	Gtg/Ttg	0	validated		possiblydamaging	
RNF128		inserm.fr	GRCh37	X	106033476	106033476	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1182T																					ENST00000255499.2:c.948G>A	p.Met316Ile	p.M316I	ENST00000255499	NM_194463.1	316	atG/atA	0	not done		probablydamaging	
RNF128		inserm.fr	GRCh37	X	106034315	106034315	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1774T																					ENST00000255499.2:c.1004C>A	p.Ser335Ter	p.S335*	ENST00000255499	NM_194463.1	335	tCa/tAa	0	validated		damaging	
CCDC147		inserm.fr	GRCh37	10	106130661	106130661	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000369704.3:c.939G>A	p.Glu313=	p.E313=	ENST00000369704	NM_001008723.1	313	gaG/gaA	0	not done		synonymous	
GCNT2		inserm.fr	GRCh37	6	10621620	10621620	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC884T									Valid												ENST00000379597.3:c.962G>A	p.Gly321Glu	p.G321E	ENST00000379597		321	gGa/gAa	0	validated		possiblydamaging	
ABCA7		inserm.fr	GRCh37	19	1062250	1062250	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000263094.6:c.5650G>A	p.Gly1884Ser	p.G1884S	ENST00000263094	NM_019112.3	1884	Ggc/Agc	0	not done		possiblydamaging	
S1PR5		inserm.fr	GRCh37	19	10625026	10625026	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000439028.3:c.662C>T	p.Ala221Val	p.A221V	ENST00000439028	NM_001166215.1	221	gCc/gTc	0	not done		benign	
S1PR5		inserm.fr	GRCh37	19	10625037	10625037	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000439028.3:c.651C>T	p.Cys217=	p.C217=	ENST00000439028	NM_001166215.1	217	tgC/tgT	0	not done		synonymous	
EMP2		inserm.fr	GRCh37	16	10626796	10626796	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000359543.3:c.470G>T	p.Gly157Val	p.G157V	ENST00000359543	NM_001424.4	157	gGc/gTc	0	not done		probablydamaging	
SORCS3		inserm.fr	GRCh37	10	106401492	106401492	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000369701.3:c.407C>A	p.Pro136His	p.P136H	ENST00000369701	NM_014978.1	136	cCc/cAc	0	not done		possiblydamaging	
NUP62CL		inserm.fr	GRCh37	X	106410897	106410897	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM275T																					ENST00000372466.4:c.176C>T	p.Pro59Leu	p.P59L	ENST00000372466	NM_017681.2	59	cCt/cTt	0	validated		probablydamaging	
NCK2		inserm.fr	GRCh37	2	106498418	106498418	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM265T									Valid												ENST00000233154.4:c.861C>A	p.Tyr287Ter	p.Y287*	ENST00000233154	NM_003581.4	287	taC/taA	0	validated		damaging	
PIK3CG		inserm.fr	GRCh37	7	106508490	106508490	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1041T									Valid												ENST00000359195.3:c.484G>A	p.Val162Ile	p.V162I	ENST00000359195	NM_002649.2	162	Gtc/Atc	0	validated		possiblydamaging	
PIK3CG		inserm.fr	GRCh37	7	106515242	106515242	+	synonymous_variant	Silent	SNP	G	A	A			CHC121T																					ENST00000359195.3:c.2385G>A	p.Ala795=	p.A795=	ENST00000359195	NM_002649.2	795	gcG/gcA	0	validated		synonymous	
PIK3CG		inserm.fr	GRCh37	7	106520043	106520043	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC434T									Valid												ENST00000359195.3:c.2471C>A	p.Ser824Ter	p.S824*	ENST00000359195	NM_002649.2	824	tCa/tAa	0	validated		damaging	
PRDM1		inserm.fr	GRCh37	6	106553717	106553717	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC327T									Valid												ENST00000369096.4:c.1682C>A	p.Thr561Asn	p.T561N	ENST00000369096	NM_001198.3	561	aCc/aAc	0	validated		possiblydamaging	
PRDM1		inserm.fr	GRCh37	6	106554919	106554919	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1602T																					ENST00000369096.4:c.2036G>A	p.Arg679His	p.R679H	ENST00000369096	NM_001198.3	679	cGt/cAt	0	not done		probablydamaging	
ARHGEF38		inserm.fr	GRCh37	4	106580406	106580406	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB231T																					ENST00000420470.2:c.1429C>A	p.Leu477Ile	p.L477I	ENST00000420470	NM_001242729.1	477	Ctc/Atc	0	validated			
ATG4D		inserm.fr	GRCh37	19	10662644	10662644	+	synonymous_variant	Silent	SNP	C	A	A			CHC1700T																					ENST00000309469.4:c.1038C>A	p.Gly346=	p.G346=	ENST00000309469	NM_032885.5	346	ggC/ggA	0	validated		synonymous	
CKAP4		inserm.fr	GRCh37	12	106633686	106633686	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2098T																					ENST00000378026.4:c.925G>T	p.Ala309Ser	p.A309S	ENST00000378026	NM_006825.3	309	Gcc/Tcc	0	not done		benign	
GUCY1A2		inserm.fr	GRCh37	11	106647249	106647249	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000282249.2:c.1752C>T	p.Cys584=	p.C584=	ENST00000282249	NM_001256424.1	584	tgC/tgT	0	not done		synonymous	
GUCY1A2		inserm.fr	GRCh37	11	106681109	106681109	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM567T																					ENST00000282249.2:c.1302G>T	p.Met434Ile	p.M434I	ENST00000282249	NM_001256424.1	434	atG/atT	0	validated		benign	
PRKAR2B		inserm.fr	GRCh37	7	106685580	106685580	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB109T																					ENST00000265717.4:c.228C>A	p.Phe76Leu	p.F76L	ENST00000265717	NM_002736.2	76	ttC/ttA	0	validated		probablydamaging	
EFNA5		inserm.fr	GRCh37	5	106722963	106722963	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1085T																					ENST00000333274.6:c.538A>T	p.Lys180Ter	p.K180*	ENST00000333274	NM_001962.2	180	Aaa/Taa	0	validated		damaging	
ATG5		inserm.fr	GRCh37	6	106756318	106756318	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			BCM275T									Valid												ENST00000369076.3:c.157A>T	p.Lys53Ter	p.K53*	ENST00000369076	NM_004849.2	53	Aaa/Taa	0	validated		damaging	
UXS1		inserm.fr	GRCh37	2	106761776	106761776	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM339T																					ENST00000283148.7:c.342G>T	p.Met114Ile	p.M114I	ENST00000283148	NM_001253875.1	114	atG/atT	0	validated		probablydamaging	
ZFPM2		inserm.fr	GRCh37	8	106800953	106800953	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000407775.2:c.540G>A	p.Gln180=	p.Q180=	ENST00000407775	NM_012082.3	180	caG/caA	0	not done		synonymous	
GUCY1A2		inserm.fr	GRCh37	11	106810711	106810711	+	synonymous_variant	Silent	SNP	G	A	A			CHC1601T																					ENST00000282249.2:c.681C>T	p.Cys227=	p.C227=	ENST00000282249	NM_001256424.1	227	tgC/tgT	0	not done		synonymous	
ZFPM2		inserm.fr	GRCh37	8	106813421	106813421	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000407775.2:c.1111G>A	p.Gly371Ser	p.G371S	ENST00000407775	NM_012082.3	371	Ggc/Agc	0	not done		benign	
ZFPM2		inserm.fr	GRCh37	8	106813422	106813422	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1154T																					ENST00000407775.2:c.1112G>A	p.Gly371Asp	p.G371D	ENST00000407775	NM_012082.3	371	gGc/gAc	0	not done		possiblydamaging	
ZFPM2		inserm.fr	GRCh37	8	106813919	106813919	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1044T																					ENST00000407775.2:c.1609C>A	p.Pro537Thr	p.P537T	ENST00000407775	NM_012082.3	537	Ccc/Acc	0	not done		probablydamaging	
ZFPM2		inserm.fr	GRCh37	8	106813926	106813926	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1603T																					ENST00000407775.2:c.1616T>A	p.Ile539Asn	p.I539N	ENST00000407775	NM_012082.3	539	aTt/aAt	0	not done		probablydamaging	
ZFPM2		inserm.fr	GRCh37	8	106815090	106815090	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC891T																					ENST00000407775.2:c.2780C>A	p.Pro927His	p.P927H	ENST00000407775	NM_012082.3	927	cCc/cAc	0	not done		probablydamaging	
ZFPM2		inserm.fr	GRCh37	8	106815458	106815458	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1207T																					ENST00000407775.2:c.3148C>A	p.Gln1050Lys	p.Q1050K	ENST00000407775	NM_012082.3	1050	Caa/Aaa	0	not done		probablydamaging	
FRMPD3		inserm.fr	GRCh37	X	106843771	106843771	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000276185.4:c.2601G>A	p.Gly867=	p.G867=	ENST00000276185		867	ggG/ggA	0	not done		synonymous	
FRMPD3		inserm.fr	GRCh37	X	106843901	106843901	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000276185.4:c.2731C>A	p.His911Asn	p.H911N	ENST00000276185		911	Cac/Aac	0	not done			
FRMPD3		inserm.fr	GRCh37	X	106843975	106843975	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000276185.4:c.2805G>A	p.Gly935=	p.G935=	ENST00000276185		935	ggG/ggA	0	not done		synonymous	
FRMPD3		inserm.fr	GRCh37	X	106843989	106843989	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000276185.4:c.2819G>A	p.Arg940Lys	p.R940K	ENST00000276185		940	aGg/aAg	0	not done			
FRMPD3		inserm.fr	GRCh37	X	106845771	106845771	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000276185.4:c.4601G>A	p.Arg1534His	p.R1534H	ENST00000276185		1534	cGc/cAc	0	not done			
FRMPD3		inserm.fr	GRCh37	X	106846205	106846205	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000276185.4:c.5035G>A	p.Ala1679Thr	p.A1679T	ENST00000276185		1679	Gcc/Acc	0	not done			
SMC2		inserm.fr	GRCh37	9	106882367	106882367	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1725T																					ENST00000286398.7:c.2056G>A	p.Asp686Asn	p.D686N	ENST00000286398	NM_006444.2	686	Gat/Aat	0	not done		benign	
NPNT		inserm.fr	GRCh37	4	106888367	106888367	+	synonymous_variant	Silent	SNP	G	A	A			CHC1534T																					ENST00000427316.2:c.1458G>A	p.Ser486=	p.S486=	ENST00000427316	NM_001184691.1	486	tcG/tcA	0	validated		synonymous	
TSC22D3		inserm.fr	GRCh37	X	106960005	106960005	+	intron_variant	Intron	SNP	C	A	A			CHC1545T																					ENST00000372383.4:c.321-825G>T		*107*	ENST00000372383	NM_198057.2			0	validated		benign	
RFX4		inserm.fr	GRCh37	12	106995084	106995084	+	synonymous_variant	Silent	SNP	G	A	A			CHC801T																					ENST00000357881.4:c.30G>A	p.Ala10=	p.A10=	ENST00000357881	NM_001206691.1	10	gcG/gcA	0	not done		synonymous	
RTN4IP1		inserm.fr	GRCh37	6	107040162	107040162	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM567T																					ENST00000369063.3:c.683G>T	p.Trp228Leu	p.W228L	ENST00000369063	NM_032730.4	228	tGg/tTg	0	validated		probablydamaging	
PIEZO2		inserm.fr	GRCh37	18	10705504	10705504	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000503781.3:c.5490C>T	p.Ser1830=	p.S1830=	ENST00000503781	NM_022068.2	1830	tcC/tcT	0	not done		synonymous	
ARGLU1		inserm.fr	GRCh37	13	107196505	107196505	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000400198.3:c.661G>T	p.Glu221Ter	p.E221*	ENST00000400198	NM_018011.3	221	Gaa/Taa	0	validated		damaging	
RIC8B		inserm.fr	GRCh37	12	107254159	107254159	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2215T																					ENST00000392839.2:c.1420G>A	p.Asp474Asn	p.D474N	ENST00000392839	NM_018157.2	474	Gac/Aac	0	not done		probablydamaging	
GIMD1		inserm.fr	GRCh37	4	107288234	107288234	+	non_coding_transcript_exon_variant	RNA	SNP	C	A	A			CHC1601T																					ENST00000507153.1:n.126G>T		*42*	ENST00000507153				0	not done			
PIEZO2		inserm.fr	GRCh37	18	10731423	10731423	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1183T																					ENST00000503781.3:c.4837C>T	p.Arg1613Trp	p.R1613W	ENST00000503781	NM_022068.2	1613	Cgg/Tgg	0	not done			
SLC26A4		inserm.fr	GRCh37	7	107330584	107330584	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000265715.3:c.1165G>A	p.Gly389Arg	p.G389R	ENST00000265715	NM_000441.1	389	Ggg/Agg	0	not done		probablydamaging	
SLC26A4		inserm.fr	GRCh37	7	107338557	107338557	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC1616T																					ENST00000265715.3:c.1614+1G>A		p.X538_splice	ENST00000265715	NM_000441.1			0	not done		possiblydamaging	
CRY1		inserm.fr	GRCh37	12	107391164	107391164	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			BCM617T																					ENST00000008527.5:c.1493G>T	p.Gly498Val	p.G498V	ENST00000008527	NM_004075.4	498	gGt/gTt	0	validated		damaging	
COL4A6		inserm.fr	GRCh37	X	107402809	107402809	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000372216.4:c.4698C>T	p.Ser1566=	p.S1566=	ENST00000372216	NM_001847.2	1566	agC/agT	0	not done		synonymous	
COL4A6		inserm.fr	GRCh37	X	107408175	107408175	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000372216.4:c.3905C>T	p.Pro1302Leu	p.P1302L	ENST00000372216	NM_001847.2	1302	cCt/cTt	0	not done		benign	
COL4A6		inserm.fr	GRCh37	X	107417721	107417721	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000372216.4:c.3090C>T	p.Gly1030=	p.G1030=	ENST00000372216	NM_001847.2	1030	ggC/ggT	0	not done		synonymous	
ST6GAL2		inserm.fr	GRCh37	2	107460276	107460276	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1207T																					ENST00000409382.3:c.158C>T	p.Pro53Leu	p.P53L	ENST00000409382	NM_001142351.1	53	cCg/cTg	0	not done		probablydamaging	
ELMOD1		inserm.fr	GRCh37	11	107506390	107506390	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC197T									Valid												ENST00000265840.7:c.319C>A	p.Leu107Met	p.L107M	ENST00000265840	NM_018712.3	107	Ctg/Atg	0	validated		probablydamaging	
ELMOD1		inserm.fr	GRCh37	11	107518269	107518269	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC469T									Valid												ENST00000265840.7:c.496G>A	p.Gly166Ser	p.G166S	ENST00000265840	NM_018712.3	166	Ggt/Agt	0	validated		probablydamaging	
ABCA1		inserm.fr	GRCh37	9	107546705	107546705	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1739T																					ENST00000374736.3:c.6677A>T	p.Asp2226Val	p.D2226V	ENST00000374736	NM_005502.3	2226	gAt/gTt	0	not done		probablydamaging	
ABCA1		inserm.fr	GRCh37	9	107550833	107550833	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000374736.3:c.5943C>T	p.Ile1981=	p.I1981=	ENST00000374736	NM_005502.3	1981	atC/atT	0	not done		synonymous	
TMEM14B		inserm.fr	GRCh37	6	10756713	10756713	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000379542.5:c.307G>A	p.Ala103Thr	p.A103T	ENST00000379542	NM_030969.3	103	Gcc/Acc	0	not done		benign	
PIEZO2		inserm.fr	GRCh37	18	10758026	10758026	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000503781.3:c.3789G>T	p.Met1263Ile	p.M1263I	ENST00000503781	NM_022068.2	1263	atG/atT	0	not done			
LAMB1		inserm.fr	GRCh37	7	107595987	107595987	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000222399.6:c.2779C>T	p.Arg927Cys	p.R927C	ENST00000222399	NM_002291.2	927	Cgc/Tgc	0	validated		probablydamaging	
LAMB1		inserm.fr	GRCh37	7	107601081	107601081	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC801T																					ENST00000222399.6:c.2123C>T	p.Pro708Leu	p.P708L	ENST00000222399	NM_002291.2	708	cCa/cTa	0	not done		probablydamaging	
LAMB1		inserm.fr	GRCh37	7	107621194	107621194	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000222399.6:c.739C>T	p.Leu247Phe	p.L247F	ENST00000222399	NM_002291.2	247	Ctt/Ttt	0	not done		probablydamaging	
SLC12A7		inserm.fr	GRCh37	5	1076351	1076351	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC923T																					ENST00000264930.5:c.1749G>T	p.Met583Ile	p.M583I	ENST00000264930	NM_006598.2	583	atG/atT	0	not done		damaging	
SLC35F2		inserm.fr	GRCh37	11	107673745	107673745	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000525815.1:c.921C>T	p.Leu307=	p.L307=	ENST00000525815	NM_017515.4	307	ctC/ctT	0	validated		synonymous	
NTNG1		inserm.fr	GRCh37	1	107691297	107691297	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370068.1:c.82G>A	p.Gly28Arg	p.G28R	ENST00000370068		28	Gga/Aga	0	not done		probablydamaging	
LAMB4		inserm.fr	GRCh37	7	107717408	107717408	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC313T									Valid												ENST00000388781.3:c.2105C>T	p.Ser702Leu	p.S702L	ENST00000388781	NM_007356.2	702	tCa/tTa	0	validated		possiblydamaging	
XKR6		inserm.fr	GRCh37	8	10782271	10782271	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB109T									Valid												ENST00000416569.2:c.834G>T	p.Trp278Cys	p.W278C	ENST00000416569	NM_173683.3	278	tgG/tgT	0	validated		possiblydamaging	
RAB39A		inserm.fr	GRCh37	11	107832962	107832962	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC703T																					ENST00000320578.2:c.518G>A	p.Arg173Lys	p.R173K	ENST00000320578	NM_017516.1	173	aGa/aAa	0	validated		benign	
NTNG1		inserm.fr	GRCh37	1	107866962	107866962	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2103T																					ENST00000370068.1:c.305C>A	p.Pro102His	p.P102H	ENST00000370068		102	cCc/cAc	0	not done		probablydamaging	
COL4A5		inserm.fr	GRCh37	X	107869001	107869001	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2208T																					ENST00000328300.6:c.3083C>A	p.Thr1028Asn	p.T1028N	ENST00000328300	NM_033380.2	1028	aCc/aAc	0	not done		benign	
IFT57		inserm.fr	GRCh37	3	107881395	107881395	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC917T																					ENST00000264538.3:c.1219A>T	p.Lys407Ter	p.K407*	ENST00000264538	NM_018010.3	407	Aag/Tag	0	validated		damaging	
TEKT5		inserm.fr	GRCh37	16	10788390	10788390	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1598T																					ENST00000283025.2:c.341G>T	p.Arg114Leu	p.R114L	ENST00000283025	NM_144674.1	114	cGg/cTg	0	not done		possiblydamaging	
COL4A5		inserm.fr	GRCh37	X	107909745	107909745	+	synonymous_variant	Silent	SNP	G	A	A			CHC898T																					ENST00000328300.6:c.3474G>A	p.Gly1158=	p.G1158=	ENST00000328300	NM_033380.2	1158	ggG/ggA	0	not done		synonymous	
COL4A5		inserm.fr	GRCh37	X	107920756	107920756	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1568T																					ENST00000328300.6:c.3835G>A	p.Gly1279Ser	p.G1279S	ENST00000328300	NM_033380.2	1279	Ggt/Agt	0	not done		probablydamaging	
ILF3		inserm.fr	GRCh37	19	10793872	10793872	+	synonymous_variant	Silent	SNP	G	A	A			BCM783T																					ENST00000449870.1:c.1620G>A	p.Arg540=	p.R540=	ENST00000449870	NM_017620.2	540	agG/agA	0	validated		synonymous	
ILF3		inserm.fr	GRCh37	19	10794614	10794614	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1746T																					ENST00000449870.1:c.2039G>A	p.Gly680Glu	p.G680E	ENST00000449870	NM_017620.2	680	gGg/gAg	0	not done		probablydamaging	
SOBP		inserm.fr	GRCh37	6	107954914	107954914	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000317357.5:c.866G>A	p.Gly289Asp	p.G289D	ENST00000317357	NM_018013.3	289	gGc/gAc	0	not done		probablydamaging	
SOBP		inserm.fr	GRCh37	6	107956119	107956119	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC097T																					ENST00000317357.5:c.2071G>A	p.Gly691Ser	p.G691S	ENST00000317357	NM_018013.3	691	Ggc/Agc	0	validated		benign	
SOBP		inserm.fr	GRCh37	6	107956345	107956345	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000317357.5:c.2297G>A	p.Ser766Asn	p.S766N	ENST00000317357	NM_018013.3	766	aGc/aAc	0	not done		probablydamaging	
CTR9		inserm.fr	GRCh37	11	10796764	10796764	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000361367.2:c.2896G>A	p.Gly966Arg	p.G966R	ENST00000361367	NM_014633.3	966	Gga/Aga	0	not done		benign	
IRS4		inserm.fr	GRCh37	X	107978424	107978424	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC097T																					ENST00000372129.2:c.1151G>T	p.Arg384Met	p.R384M	ENST00000372129	NM_003604.2	384	aGg/aTg	0	not done		probablydamaging	
ILF3		inserm.fr	GRCh37	19	10799939	10799939	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000449870.1:c.2648G>A	p.Gly883Asp	p.G883D	ENST00000449870	NM_017620.2	883	gGc/gAc	0	not done		benign	
NTNG1		inserm.fr	GRCh37	1	108023360	108023360	+	synonymous_variant	Silent	SNP	C	A	A			CHC1594T																					ENST00000370068.1:c.1518C>A	p.Gly506=	p.G506=	ENST00000370068		506	ggC/ggA	0	not done		synonymous	
NPAT		inserm.fr	GRCh37	11	108043145	108043145	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1763T																					ENST00000278612.8:c.2566A>T	p.Thr856Ser	p.T856S	ENST00000278612	NM_002519.2	856	Aca/Tca	0	not done		probablydamaging	
MYH15		inserm.fr	GRCh37	3	108133184	108133184	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000273353.3:c.4100C>T	p.Ala1367Val	p.A1367V	ENST00000273353	NM_014981.1	1367	gCt/gTt	0	not done		benign	
MYH15		inserm.fr	GRCh37	3	108160092	108160092	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000273353.3:c.2731G>T	p.Ala911Ser	p.A911S	ENST00000273353	NM_014981.1	911	Gca/Tca	0	not done		probablydamaging	
MYH15		inserm.fr	GRCh37	3	108163684	108163684	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000273353.3:c.2518C>T	p.Pro840Ser	p.P840S	ENST00000273353	NM_014981.1	840	Ccc/Tcc	0	not done		benign	
VAV3		inserm.fr	GRCh37	1	108185316	108185316	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1079T																					ENST00000370056.4:c.1839A>T	p.Glu613Asp	p.E613D	ENST00000370056	NM_006113.4	613	gaA/gaT	0	not done		benign	
ATM		inserm.fr	GRCh37	11	108186608	108186608	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1568T																					ENST00000278616.4:c.6065G>A	p.Gly2022Asp	p.G2022D	ENST00000278616	NM_000051.3	2022	gGt/gAt	0	not done		probablydamaging	
ATM		inserm.fr	GRCh37	11	108202662	108202662	+	synonymous_variant	Silent	SNP	C	A	A			CHC434T																					ENST00000278616.4:c.7686C>A	p.Ala2562=	p.A2562=	ENST00000278616	NM_000051.3	2562	gcC/gcA	0	validated		synonymous	
MYH15		inserm.fr	GRCh37	3	108204059	108204059	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2098T																					ENST00000273353.3:c.1053G>T	p.Leu351Phe	p.L351F	ENST00000273353	NM_014981.1	351	ttG/ttT	0	not done		probablydamaging	
ATM		inserm.fr	GRCh37	11	108236216	108236216	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2127T																					ENST00000278616.4:c.9152G>A	p.Gly3051Glu	p.G3051E	ENST00000278616	NM_000051.3	3051	gGa/gAa	0	not done		probablydamaging	
SORCS1		inserm.fr	GRCh37	10	108371727	108371727	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1736T																					ENST00000344440.6:c.2975C>T	p.Pro992Leu	p.P992L	ENST00000344440	NM_001206571.1	992	cCg/cTg	0	not done		probablydamaging	
SORCS1		inserm.fr	GRCh37	10	108412206	108412206	+	synonymous_variant	Silent	SNP	G	A	A			CHC451T																					ENST00000344440.6:c.2409C>T	p.Val803=	p.V803=	ENST00000344440	NM_001206571.1	803	gtC/gtT	0	not done		synonymous	
SORCS1		inserm.fr	GRCh37	10	108459106	108459106	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1595T																					ENST00000344440.6:c.1279G>T	p.Val427Phe	p.V427F	ENST00000344440	NM_001206571.1	427	Gtc/Ttc	0	validated		probablydamaging	
PAPSS1		inserm.fr	GRCh37	4	108575955	108575955	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM565T																					ENST00000265174.4:c.997C>T	p.Arg333Cys	p.R333C	ENST00000265174	NM_005443.4	333	Cgc/Tgc	0	validated		probablydamaging	
SORCS1		inserm.fr	GRCh37	10	108589391	108589391	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1211T																					ENST00000344440.6:c.667A>T	p.Lys223Ter	p.K223*	ENST00000344440	NM_001206571.1	223	Aaa/Taa	0	not done		damaging	
DDX10		inserm.fr	GRCh37	11	108593801	108593801	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM735T																					ENST00000322536.3:c.1577G>A	p.Arg526Lys	p.R526K	ENST00000322536	NM_004398.2	526	aGg/aAg	0	validated		benign	
HMHA1		inserm.fr	GRCh37	19	1085955	1085955	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1754T																					ENST00000539243.2:c.3409G>A	p.Gly1137Arg	p.G1137R	ENST00000539243	NM_001258328.1	1137	Ggg/Agg	0	not done		possiblydamaging	
WSCD2		inserm.fr	GRCh37	12	108618525	108618525	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000332082.4:c.692C>A	p.Ala231Glu	p.A231E	ENST00000332082		231	gCa/gAa	0	not done		probablydamaging	
GUCY2F		inserm.fr	GRCh37	X	108619394	108619394	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC451T																					ENST00000218006.2:c.3153C>T	p.Gly1051=	p.G1051=	ENST00000218006	NM_001522.2	1051	ggC/ggT	0	not done		synonymous	
SLC5A7		inserm.fr	GRCh37	2	108626748	108626748	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000264047.2:c.1174G>A	p.Ala392Thr	p.A392T	ENST00000264047	NM_021815.2	392	Gca/Aca	0	not done		probablydamaging	
GUCY2F		inserm.fr	GRCh37	X	108631825	108631825	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1182T																					ENST00000218006.2:c.2849C>T	p.Ala950Val	p.A950V	ENST00000218006	NM_001522.2	950	gCa/gTa	0	not done		probablydamaging	
LACE1		inserm.fr	GRCh37	6	108645028	108645028	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC1545T																					ENST00000368977.4:c.140-1G>A		p.X47_splice	ENST00000368977	NM_145315.3			0	not done		damaging	
CSDA		inserm.fr	GRCh37	12	10865826	10865826	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000228251.4:c.557G>T	p.Arg186Leu	p.R186L	ENST00000228251	NM_003651.4	186	cGt/cTt	0	not done		probablydamaging	
TVP23A		inserm.fr	GRCh37	16	10867958	10867958	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000299866.8:c.262C>T	p.Leu88Phe	p.L88F	ENST00000299866	NM_001079512.2	88	Ctt/Ttt	0	not done		probablydamaging	
PJA2		inserm.fr	GRCh37	5	108691716	108691716	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000361189.2:c.1664G>T	p.Gly555Val	p.G555V	ENST00000361189	NM_014819.4	555	gGc/gTc	0	not done		probablydamaging	
IDI1		inserm.fr	GRCh37	10	1087206	1087206	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM791T																					ENST00000381344.3:c.776C>T	p.Ala259Val	p.A259V	ENST00000381344	NM_004508.2	259	gCg/gTg	0	validated		benign	
SLC25A24		inserm.fr	GRCh37	1	108728455	108728455	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM257T																					ENST00000565488.1:c.305A>T	p.Asn102Ile	p.N102I	ENST00000565488	NM_013386.4	102	aAt/aTt	0	validated		benign	
RNF212		inserm.fr	GRCh37	4	1087392	1087392	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000433731.2:c.247-2766C>T		*83*	ENST00000433731				0	not done		synonymous	
LACE1		inserm.fr	GRCh37	6	108798407	108798407	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000368977.4:c.974G>A	p.Arg325Lys	p.R325K	ENST00000368977	NM_145315.3	325	aGg/aAg	0	not done		possiblydamaging	
DDX10		inserm.fr	GRCh37	11	108811108	108811108	+	synonymous_variant	Silent	SNP	G	A	A			CHC1742T																					ENST00000322536.3:c.2586G>A	p.Glu862=	p.E862=	ENST00000322536	NM_004398.2	862	gaG/gaA	0	not done		synonymous	
SGMS2		inserm.fr	GRCh37	4	108824469	108824469	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC205T									Valid												ENST00000394684.4:c.654T>A	p.His218Gln	p.H218Q	ENST00000394684	NM_001136258.1	218	caT/caA	0	validated		probablydamaging	
MUC2		inserm.fr	GRCh37	11	1088731	1088731	+	synonymous_variant	Silent	SNP	C	A	A			BCM723T																					ENST00000441003.2:c.3516C>A	p.Pro1172=	p.P1172=	ENST00000441003	NM_002457.2	1172	ccC/ccA	0	validated		synonymous	
SORCS1		inserm.fr	GRCh37	10	108923800	108923800	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC451T																					ENST00000344440.6:c.485G>T	p.Ser162Ile	p.S162I	ENST00000344440	NM_001206571.1	162	aGc/aTc	0	validated		probablydamaging	
ISCU		inserm.fr	GRCh37	12	108959207	108959207	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC1749T																					ENST00000311893.9:c.339G>A	p.Thr113=	p.T113=	ENST00000311893	NM_213595.2	113	acG/acA	0	not done		damaging	
FOXO3		inserm.fr	GRCh37	6	108985306	108985306	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000406360.1:c.1270G>A	p.Gly424Ser	p.G424S	ENST00000406360	NM_001455.3	424	Ggc/Agc	0	not done		possiblydamaging	
LEF1		inserm.fr	GRCh37	4	109002814	109002814	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000265165.1:c.650C>T	p.Pro217Leu	p.P217L	ENST00000265165	NM_016269.4	217	cCt/cTt	0	not done		benign	
TPTE		inserm.fr	GRCh37	21	10914408	10914408	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1597T																					ENST00000361285.4:c.1311G>T	p.Met437Ile	p.M437I	ENST00000361285	NM_199261.2	437	atG/atT	0	validated		probablydamaging	
EEIG2		inserm.fr	GRCh37	1	109167267	109167267	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000370035.3:c.453G>A	p.Thr151=	p.T151=	ENST00000370035	NM_001010883.2	151	acG/acA	0	not done		damaging	
EEIG2		inserm.fr	GRCh37	1	109171422	109171422	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000370035.3:c.966G>A	p.Ala322=	p.A322=	ENST00000370035	NM_001010883.2	322	gcG/gcA	0	validated		synonymous	
FLJ25363		inserm.fr	GRCh37	3	109178749	109178749	+	non_coding_transcript_exon_variant	RNA	SNP	T	A	A			CHC1148T																					ENST00000497996.1:n.398T>A		*133*	ENST00000497996				0	not done			
SSH1		inserm.fr	GRCh37	12	109182832	109182832	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1731T																					ENST00000326495.5:c.2082G>T	p.Leu694Phe	p.L694F	ENST00000326495	NM_018984.3	694	ttG/ttT	0	not done		benign	
MUC2		inserm.fr	GRCh37	11	1092173	1092173	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000441003.2:c.3992G>A	p.Gly1331Glu	p.G1331E	ENST00000441003	NM_002457.2	1331	gGg/gAg	0	not done		benign	
TMEM164		inserm.fr	GRCh37	X	109247314	109247314	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000372073.1:c.312G>A	p.Gly104=	p.G104=	ENST00000372073		104	ggG/ggA	0	not done		synonymous	
C11orf87		inserm.fr	GRCh37	11	109294648	109294648	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000327419.6:c.289G>A	p.Ala97Thr	p.A97T	ENST00000327419	NM_207645.3	97	Gct/Act	0	not done		probablydamaging	
MUC2		inserm.fr	GRCh37	11	1093368	1093368	+	synonymous_variant	Silent	SNP	G	A	A			BCB325T																					ENST00000441003.2:c.5187G>A	p.Thr1729=	p.T1729=	ENST00000441003	NM_002457.2	1729	acG/acA	0	validated		synonymous	
MUC2		inserm.fr	GRCh37	11	1093393	1093393	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC510T																					ENST00000441003.2:c.5212G>A	p.Gly1738Ser	p.G1738S	ENST00000441003	NM_002457.2	1738	Ggc/Agc	0	validated		benign	
MUC2		inserm.fr	GRCh37	11	1093430	1093430	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB111T																					ENST00000441003.2:c.5249C>A	p.Thr1750Asn	p.T1750N	ENST00000441003	NM_002457.2	1750	aCc/aAc	0	validated		benign	
SVOP		inserm.fr	GRCh37	12	109371242	109371242	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1534T																					ENST00000299134.5:c.117A>T	p.Ser40Cys	p.S40C	ENST00000299134	NM_018711.2	40	Agc/Tgc	0	validated		probablydamaging	
CLCC1		inserm.fr	GRCh37	1	109482289	109482289	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM617T																					ENST00000369971.2:c.1010C>T	p.Pro337Leu	p.P337L	ENST00000369971	NM_001048210.2	337	cCa/cTa	0	validated		probablydamaging	
EDAR		inserm.fr	GRCh37	2	109527452	109527452	+	synonymous_variant	Silent	SNP	G	A	A			CHC1725T																					ENST00000258443.2:c.606C>T	p.Ile202=	p.I202=	ENST00000258443	NM_022336.3	202	atC/atT	0	not done		synonymous	
WDR47		inserm.fr	GRCh37	1	109538373	109538373	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2098T																					ENST00000400794.3:c.1544G>T	p.Ser515Ile	p.S515I	ENST00000400794		515	aGc/aTc	0	not done		benign	
MYO16		inserm.fr	GRCh37	13	109540784	109540784	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1154T																					ENST00000356711.2:c.1552G>A	p.Ala518Thr	p.A518T	ENST00000356711	NM_015011.1	518	Gct/Act	0	not done		possiblydamaging	
WDR47		inserm.fr	GRCh37	1	109545021	109545021	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1611T																					ENST00000400794.3:c.1282C>T	p.Arg428Ter	p.R428*	ENST00000400794		428	Cga/Tga	0	not done		damaging	
AMMECR1		inserm.fr	GRCh37	X	109561104	109561104	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1611T																					ENST00000262844.5:c.196A>T	p.Ser66Cys	p.S66C	ENST00000262844	NM_015365.2	66	Agc/Tgc	0	not done		possiblydamaging	
ACACB		inserm.fr	GRCh37	12	109577720	109577720	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1739T																					ENST00000338432.7:c.510T>A	p.Phe170Leu	p.F170L	ENST00000338432		170	ttT/ttA	0	not done		benign	
ACACB		inserm.fr	GRCh37	12	109604777	109604777	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000338432.7:c.765G>A	p.Gly255=	p.G255=	ENST00000338432		255	ggG/ggA	0	not done		synonymous	
ACACB		inserm.fr	GRCh37	12	109609653	109609653	+	synonymous_variant	Silent	SNP	G	A	A			CHC1531T																					ENST00000338432.7:c.969G>A	p.Gly323=	p.G323=	ENST00000338432		323	ggG/ggA	0	not done		synonymous	
ACACB		inserm.fr	GRCh37	12	109617079	109617079	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000338432.7:c.1624G>A	p.Ala542Thr	p.A542T	ENST00000338432		542	Gcc/Acc	0	not done		benign	
SLC6A11		inserm.fr	GRCh37	3	10967756	10967756	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000254488.2:c.1187C>A	p.Ala396Asp	p.A396D	ENST00000254488	NM_014229.1	396	gCc/gAc	0	not done		probablydamaging	
ZNF462		inserm.fr	GRCh37	9	109686625	109686625	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000277225.5:c.432C>A	p.Val144=	p.V144=	ENST00000277225		144	gtC/gtA	0	not done		synonymous	
ZNF462		inserm.fr	GRCh37	9	109688053	109688053	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000277225.5:c.1860G>A	p.Gln620=	p.Q620=	ENST00000277225		620	caG/caA	0	not done		synonymous	
ACACB		inserm.fr	GRCh37	12	109694013	109694013	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000338432.7:c.6235G>A	p.Ala2079Thr	p.A2079T	ENST00000338432		2079	Gcg/Acg	0	not done		probablydamaging	
RGAG1		inserm.fr	GRCh37	X	109694446	109694446	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC437T																					ENST00000465301.2:c.601G>A	p.Gly201Arg	p.G201R	ENST00000465301	NM_020769.2	201	Gga/Aga	0	not done		probablydamaging	
RGAG1		inserm.fr	GRCh37	X	109695985	109695985	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000465301.2:c.2140G>A	p.Val714Met	p.V714M	ENST00000465301	NM_020769.2	714	Gtg/Atg	0	not done		benign	
ZNF462		inserm.fr	GRCh37	9	109701355	109701355	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC433T																					ENST00000277225.5:c.6394G>A	p.Ala2132Thr	p.A2132T	ENST00000277225		2132	Gct/Act	0	validated		benign	
GPR146		inserm.fr	GRCh37	7	1097315	1097315	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1081T																					ENST00000397095.1:c.164G>A	p.Ser55Asn	p.S55N	ENST00000397095		55	aGc/aAc	0	validated		benign	
SH3RF3		inserm.fr	GRCh37	2	109746041	109746041	+	synonymous_variant	Silent	SNP	C	A	A			BCM337T																					ENST00000309415.6:c.45C>A	p.Ala15=	p.A15=	ENST00000309415	NM_001099289.1	15	gcC/gcA	0	validated		synonymous	
SH3RF3		inserm.fr	GRCh37	2	109746354	109746354	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000309415.6:c.358G>A	p.Gly120Ser	p.G120S	ENST00000309415	NM_001099289.1	120	Ggc/Agc	0	not done		probablydamaging	
MUC2		inserm.fr	GRCh37	11	1097880	1097880	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1739T																					ENST00000441003.2:c.6973T>A	p.Cys2325Ser	p.C2325S	ENST00000441003	NM_002457.2	2325	Tgc/Agc	0	not done		probablydamaging	
MYO16		inserm.fr	GRCh37	13	109793033	109793033	+	synonymous_variant	Silent	SNP	G	A	A			BCB157T																					ENST00000356711.2:c.4407G>A	p.Ala1469=	p.A1469=	ENST00000356711	NM_015011.1	1469	gcG/gcA	0	validated		synonymous	
CELSR2		inserm.fr	GRCh37	1	109801327	109801327	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000271332.3:c.3584G>A	p.Gly1195Asp	p.G1195D	ENST00000271332	NM_001408.2	1195	gGc/gAc	0	not done		benign	
COL25A1		inserm.fr	GRCh37	4	109839359	109839359	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1205T																					ENST00000399132.1:c.749C>T	p.Ala250Val	p.A250V	ENST00000399132	NM_198721.2	250	gCa/gTa	0	not done		benign	
UBE3B		inserm.fr	GRCh37	12	109939182	109939182	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2113T																					ENST00000342494.3:c.1125C>A	p.Asn375Lys	p.N375K	ENST00000342494	NM_130466.3	375	aaC/aaA	0	not done		possiblydamaging	
UBE3B		inserm.fr	GRCh37	12	109939309	109939309	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000342494.3:c.1252G>A	p.Ala418Thr	p.A418T	ENST00000342494	NM_130466.3	418	Gca/Aca	0	not done		benign	
PSMA5		inserm.fr	GRCh37	1	109955759	109955759	+	splice_acceptor_variant	Splice_Site	SNP	T	A	A			CHC1754T																					ENST00000271308.4:c.224-2A>T		p.X75_splice	ENST00000271308	NM_002790.3			0	not done		damaging	
CIITA		inserm.fr	GRCh37	16	10996001	10996001	+	synonymous_variant	Silent	SNP	C	A	A			CHC1191T																					ENST00000324288.8:c.588C>A	p.Ala196=	p.A196=	ENST00000324288	NM_000246.3	196	gcC/gcA	0	not done		synonymous	
UBE3B		inserm.fr	GRCh37	12	109972535	109972535	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000342494.3:c.3155G>A	p.Arg1052His	p.R1052H	ENST00000342494	NM_130466.3	1052	cGc/cAc	0	not done		probablydamaging	
AKD1		inserm.fr	GRCh37	6	109996884	109996884	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC796T									Valid												ENST00000424296.2:c.65A>T	p.Glu22Val	p.E22V	ENST00000424296	NM_001145128.2	22	gAa/gTa	0	validated		probablydamaging	
ZC3H12C		inserm.fr	GRCh37	11	110007732	110007732	+	synonymous_variant	Silent	SNP	G	A	A			BCM269T																					ENST00000278590.3:c.366G>A	p.Arg122=	p.R122=	ENST00000278590	NM_033390.1	122	agG/agA	0	validated		synonymous	
SH3RF3		inserm.fr	GRCh37	2	110015154	110015154	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000309415.6:c.1054G>A	p.Ala352Thr	p.A352T	ENST00000309415	NM_001099289.1	352	Gcc/Acc	0	not done		benign	
SYPL2		inserm.fr	GRCh37	1	110019470	110019470	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000369872.3:c.327G>A	p.Gly109=	p.G109=	ENST00000369872	NM_001040709.1	109	ggG/ggA	0	not done		synonymous	
SYPL2		inserm.fr	GRCh37	1	110020612	110020612	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369872.3:c.629G>A	p.Gly210Asp	p.G210D	ENST00000369872	NM_001040709.1	210	gGc/gAc	0	not done		probablydamaging	
ATXN7L2		inserm.fr	GRCh37	1	110026600	110026600	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369870.3:c.25G>A	p.Ala9Thr	p.A9T	ENST00000369870	NM_153340.4	9	Gca/Aca	0	not done		benign	
ATXN7L2		inserm.fr	GRCh37	1	110030338	110030338	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000369870.3:c.612G>A	p.Glu204=	p.E204=	ENST00000369870	NM_153340.4	204	gaG/gaA	0	not done		synonymous	
FIG4		inserm.fr	GRCh37	6	110037685	110037685	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000230124.3:c.203G>A	p.Gly68Asp	p.G68D	ENST00000230124	NM_014845.5	68	gGc/gAc	0	not done		benign	
SH3RF3		inserm.fr	GRCh37	2	110065785	110065785	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM695T																					ENST00000309415.6:c.1988G>A	p.Arg663Gln	p.R663Q	ENST00000309415	NM_001099289.1	663	cGg/cAg	0	validated		probablydamaging	
SH3RF3		inserm.fr	GRCh37	2	110065837	110065837	+	synonymous_variant	Silent	SNP	C	A	A			CHC451T																					ENST00000309415.6:c.2040C>A	p.Val680=	p.V680=	ENST00000309415	NM_001099289.1	680	gtC/gtA	0	not done		synonymous	
C1orf127		inserm.fr	GRCh37	1	11008099	11008099	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000377004.4:c.2093C>T	p.Pro698Leu	p.P698L	ENST00000377004	NM_001170754.1	698	cCc/cTc	0	not done		benign	
TRHR		inserm.fr	GRCh37	8	110131346	110131346	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB231T																					ENST00000518632.1:c.859G>A	p.Val287Ile	p.V287I	ENST00000518632		287	Gtt/Att	0	validated		probablydamaging	
FAM222A		inserm.fr	GRCh37	12	110206454	110206454	+	synonymous_variant	Silent	SNP	C	A	A			CHC614T																					ENST00000538780.1:c.720C>A	p.Pro240=	p.P240=	ENST00000538780	NM_032829.2	240	ccC/ccA	0	validated		synonymous	
FAM222A		inserm.fr	GRCh37	12	110207083	110207083	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1738T																					ENST00000538780.1:c.1349T>A	p.Val450Asp	p.V450D	ENST00000538780	NM_032829.2	450	gTc/gAc	0	not done		probablydamaging	
TRPV4		inserm.fr	GRCh37	12	110226247	110226247	+	synonymous_variant	Silent	SNP	C	A	A			BCM321T																					ENST00000418703.2:c.2166G>T	p.Val722=	p.V722=	ENST00000418703	NM_001177431.1	722	gtG/gtT	0	validated		synonymous	
TRPV4		inserm.fr	GRCh37	12	110230563	110230563	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000418703.2:c.1718C>T	p.Ala573Val	p.A573V	ENST00000418703	NM_001177431.1	573	gCc/gTc	0	not done		probablydamaging	
SH3RF3		inserm.fr	GRCh37	2	110259085	110259085	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1743T																					ENST00000309415.6:c.2486G>A	p.Arg829His	p.R829H	ENST00000309415	NM_001099289.1	829	cGc/cAc	0	not done		probablydamaging	
GPR6		inserm.fr	GRCh37	6	110300502	110300502	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000275169.3:c.187G>A	p.Gly63Arg	p.G63R	ENST00000275169	NM_005284.3	63	Ggg/Agg	0	not done		probablydamaging	
GPR6		inserm.fr	GRCh37	6	110300686	110300686	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000275169.3:c.371G>A	p.Gly124Asp	p.G124D	ENST00000275169	NM_005284.3	124	gGc/gAc	0	not done		probablydamaging	
NUDCD1		inserm.fr	GRCh37	8	110302159	110302159	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC923T																					ENST00000239690.4:c.644A>T	p.Asn215Ile	p.N215I	ENST00000239690	NM_032869.3	215	aAt/aTt	0	not done		benign	
SEPT10		inserm.fr	GRCh37	2	110303698	110303698	+	synonymous_variant	Silent	SNP	G	A	A			BCM545T																					ENST00000397712.2:c.1278C>T	p.Thr426=	p.T426=	ENST00000397712	NM_144710.3	426	acC/acT	0	validated		synonymous	
GIT2		inserm.fr	GRCh37	12	110377045	110377045	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1566T																					ENST00000355312.3:c.1739G>T	p.Arg580Met	p.R580M	ENST00000355312	NM_057169.3	580	aGg/aTg	0	not done		benign	
C19orf52		inserm.fr	GRCh37	19	11039869	11039869	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000270502.6:c.274G>A	p.Gly92Arg	p.G92R	ENST00000270502	NM_138358.2	92	Ggg/Agg	0	not done		probablydamaging	
GIT2		inserm.fr	GRCh37	12	110399140	110399140	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC805T																					ENST00000355312.3:c.930G>T	p.Glu310Asp	p.E310D	ENST00000355312	NM_057169.3	310	gaG/gaT	0	not done		benign	
GIT2		inserm.fr	GRCh37	12	110421281	110421281	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1725T																					ENST00000355312.3:c.520G>T	p.Ala174Ser	p.A174S	ENST00000355312	NM_057169.3	174	Gcc/Tcc	0	not done		probablydamaging	
MUC2		inserm.fr	GRCh37	11	1104234	1104234	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM791T																					ENST00000441003.2:c.8425C>A	p.Arg2809Ser	p.R2809S	ENST00000441003	NM_002457.2	2809	Cgc/Agc	0	validated		probablydamaging	
WDR36		inserm.fr	GRCh37	5	110428001	110428001	+	synonymous_variant	Silent	SNP	G	A	A			CHC1137T																					ENST00000506538.2:c.15G>A	p.Glu5=	p.E5=	ENST00000506538	NM_139281.2	5	gaG/gaA	0	not done		synonymous	
WASF1		inserm.fr	GRCh37	6	110428283	110428283	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000392589.1:c.537G>T	p.Gln179His	p.Q179H	ENST00000392589	NM_003931.2	179	caG/caT	0	not done		possiblydamaging	
SEC24B		inserm.fr	GRCh37	4	110431173	110431173	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000265175.5:c.1682G>A	p.Arg561Gln	p.R561Q	ENST00000265175	NM_006323.2	561	cGg/cAg	0	not done		probablydamaging	
IRS2		inserm.fr	GRCh37	13	110436522	110436522	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1725T																					ENST00000375856.3:c.1879C>T	p.Pro627Ser	p.P627S	ENST00000375856	NM_003749.2	627	Ccc/Tcc	0	not done		probablydamaging	
WDR36		inserm.fr	GRCh37	5	110448847	110448847	+	synonymous_variant	Silent	SNP	T	A	A			CHC1598T																					ENST00000506538.2:c.1959T>A	p.Ser653=	p.S653=	ENST00000506538	NM_139281.2	653	tcT/tcA	0	not done		synonymous	
PKHD1L1		inserm.fr	GRCh37	8	110457350	110457350	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC703T																					ENST00000378402.5:c.5252T>A	p.Ile1751Lys	p.I1751K	ENST00000378402	NM_177531.4	1751	aTa/aAa	0	validated		possiblydamaging	
SEC24B		inserm.fr	GRCh37	4	110460729	110460729	+	synonymous_variant	Silent	SNP	T	A	A			CHC2127T																					ENST00000265175.5:c.3705T>A	p.Pro1235=	p.P1235=	ENST00000265175	NM_006323.2	1235	ccT/ccA	0	not done		synonymous	
PKHD1L1		inserm.fr	GRCh37	8	110465016	110465016	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1775T																					ENST00000378402.5:c.6577G>A	p.Glu2193Lys	p.E2193K	ENST00000378402	NM_177531.4	2193	Gaa/Aaa	0	validated		probablydamaging	
CAPN6		inserm.fr	GRCh37	X	110491859	110491859	+	synonymous_variant	Silent	SNP	G	A	A			CHC1731T																					ENST00000324068.1:c.1422C>T	p.Phe474=	p.F474=	ENST00000324068	NM_014289.3	474	ttC/ttT	0	validated		synonymous	
CAPN6		inserm.fr	GRCh37	X	110497548	110497548	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1185T																					ENST00000324068.1:c.249G>T	p.Met83Ile	p.M83I	ENST00000324068	NM_014289.3	83	atG/atT	0	not done		possiblydamaging	
GPX4		inserm.fr	GRCh37	19	1105238	1105238	+	synonymous_variant	Silent	SNP	C	A	A			CHC301T																					ENST00000354171.8:c.138C>A	p.Ala46=	p.A46=	ENST00000354171	NM_001039847.1	46	gcC/gcA	0	validated		synonymous	
XKR6		inserm.fr	GRCh37	8	11058361	11058361	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC912T																					ENST00000416569.2:c.488G>T	p.Gly163Val	p.G163V	ENST00000416569	NM_173683.3	163	gGg/gTg	0	validated		probablydamaging	
STRIP1		inserm.fr	GRCh37	1	110584378	110584378	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000369795.3:c.780G>A	p.Glu260=	p.E260=	ENST00000369795	NM_033088.3	260	gaG/gaA	0	not done		synonymous	
SLC6A1		inserm.fr	GRCh37	3	11058950	11058950	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000287766.4:c.53G>A	p.Ser18Asn	p.S18N	ENST00000287766	NM_003042.3	18	aGc/aAc	0	not done		benign	
SLC6A1		inserm.fr	GRCh37	3	11060290	11060290	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000287766.4:c.377G>A	p.Gly126Asp	p.G126D	ENST00000287766	NM_003042.3	126	gGc/gAc	0	not done		probablydamaging	
TAS2R13		inserm.fr	GRCh37	12	11061677	11061677	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC121T																					ENST00000390677.2:c.221C>T	p.Ala74Val	p.A74V	ENST00000390677	NM_023920.2	74	gCc/gTc	0	validated		benign	
PSMF1		inserm.fr	GRCh37	20	1106284	1106284	+	synonymous_variant	Silent	SNP	C	A	A			CHC451T																					ENST00000335877.6:c.273C>A	p.Leu91=	p.L91=	ENST00000335877	NM_006814.3	91	ctC/ctA	0	not done		synonymous	
DCX		inserm.fr	GRCh37	X	110653567	110653567	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000338081.3:c.303C>T	p.Gly101=	p.G101=	ENST00000338081	NM_000555.3	101	ggC/ggT	0	not done		synonymous	
CLEC16A		inserm.fr	GRCh37	16	11073233	11073233	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000409790.1:c.951G>A	p.Leu317=	p.L317=	ENST00000409790	NM_015226.2	317	ctG/ctA	0	not done		synonymous	
KCNC4		inserm.fr	GRCh37	1	110766005	110766005	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000369787.3:c.1098G>A	p.Gly366=	p.G366=	ENST00000369787	NM_004978.4	366	ggG/ggA	0	not done		synonymous	
CAMK4		inserm.fr	GRCh37	5	110809026	110809026	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2358T																					ENST00000282356.4:c.643G>A	p.Gly215Ser	p.G215S	ENST00000282356	NM_001744.4	215	Ggt/Agt	0	validated		probablydamaging	
COL4A1		inserm.fr	GRCh37	13	110829232	110829232	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	A	A			CHC1602T																					ENST00000375820.4:c.2869G>T	p.Gly957Ter	p.G957*	ENST00000375820	NM_001845.4	957	Gga/Tga	0	not done		possiblydamaging	
NPHP1		inserm.fr	GRCh37	2	110881572	110881572	+	synonymous_variant	Silent	SNP	G	A	A			CHC793T																					ENST00000316534.4:c.1998C>T	p.His666=	p.H666=	ENST00000316534		666	caC/caT	0	validated		synonymous	
RBM15		inserm.fr	GRCh37	1	110882914	110882914	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1053T									Valid												ENST00000369784.3:c.887G>A	p.Gly296Asp	p.G296D	ENST00000369784	NM_022768.4	296	gGt/gAt	0	validated		benign	
EGF		inserm.fr	GRCh37	4	110883127	110883127	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000265171.5:c.1298G>A	p.Gly433Glu	p.G433E	ENST00000265171	NM_001963.4	433	gGg/gAg	0	not done		probablydamaging	
COL4A1		inserm.fr	GRCh37	13	110895027	110895027	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1602T																					ENST00000375820.4:c.139C>T	p.Gln47Ter	p.Q47*	ENST00000375820	NM_001845.4	47	Caa/Taa	0	not done		damaging	
NPHP1		inserm.fr	GRCh37	2	110904354	110904354	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB325T									Valid												ENST00000316534.4:c.1496C>T	p.Ala499Val	p.A499V	ENST00000316534		499	gCc/gTc	0	validated		probablydamaging	
NPHP1		inserm.fr	GRCh37	2	110927456	110927456	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1028T																					ENST00000316534.4:c.449A>T	p.Lys150Ile	p.K150I	ENST00000316534		150	aAa/aTa	0	not done		benign	
ALG13		inserm.fr	GRCh37	X	110963323	110963323	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC798T									Valid												ENST00000394780.3:c.1251G>A	p.Arg417=	p.R417=	ENST00000394780	NM_001257231.1	417	agG/agA	0	validated		possiblydamaging	
ALG13		inserm.fr	GRCh37	X	110970598	110970598	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000394780.3:c.2015G>A	p.Gly672Asp	p.G672D	ENST00000394780	NM_001257231.1	672	gGc/gAc	0	not done		benign	
KCNV1		inserm.fr	GRCh37	8	110984923	110984923	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000524391.1:c.555C>T	p.Ser185=	p.S185=	ENST00000524391		185	tcC/tcT	0	not done		synonymous	
ERVFRD-1		inserm.fr	GRCh37	6	11105510	11105510	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000472091.1:c.34C>T	p.Pro12Ser	p.P12S	ENST00000472091	NM_207582.2	12	Cct/Tct	0	not done		possiblydamaging	
COL4A2		inserm.fr	GRCh37	13	111080841	111080841	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000360467.5:c.388G>A	p.Gly130Arg	p.G130R	ENST00000360467	NM_001846.2	130	Gga/Aga	0	not done		probablydamaging	
SBNO2		inserm.fr	GRCh37	19	1111073	1111073	+	synonymous_variant	Silent	SNP	C	A	A			CHC314T																					ENST00000361757.3:c.2829G>T	p.Leu943=	p.L943=	ENST00000361757	NM_014963.2	943	ctG/ctT	0	validated		synonymous	
COL4A2		inserm.fr	GRCh37	13	111119399	111119399	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000360467.5:c.2051G>A	p.Gly684Glu	p.G684E	ENST00000360467	NM_001846.2	684	gGg/gAg	0	not done		possiblydamaging	
KCNA2		inserm.fr	GRCh37	1	111147195	111147195	+	synonymous_variant	Silent	SNP	G	A	A			CHC703T																					ENST00000485317.1:c.210C>T	p.Asp70=	p.D70=	ENST00000485317		70	gaC/gaT	0	not done		synonymous	
COL4A2		inserm.fr	GRCh37	13	111147773	111147773	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC304T									Valid												ENST00000360467.5:c.3719C>A	p.Pro1240His	p.P1240H	ENST00000360467	NM_001846.2	1240	cCt/cAt	0	validated		probablydamaging	
CD96		inserm.fr	GRCh37	3	111263996	111263996	+	synonymous_variant	Silent	SNP	G	A	A			BCM397T																					ENST00000283285.5:c.165G>A	p.Gln55=	p.Q55=	ENST00000283285	NM_198196.2	55	caG/caA	0	validated		synonymous	
CCDC63		inserm.fr	GRCh37	12	111296558	111296558	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000308208.5:c.348G>A	p.Leu116=	p.L116=	ENST00000308208	NM_152591.1	116	ctG/ctA	0	not done		synonymous	
SMARCA4		inserm.fr	GRCh37	19	11132460	11132460	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000344626.4:c.2676G>A	p.Lys892=	p.K892=	ENST00000344626	NM_003072.3	892	aaG/aaA	0	not done		synonymous	
ING1		inserm.fr	GRCh37	13	111371752	111371752	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC218T																					ENST00000375774.3:c.742C>A	p.Gln248Lys	p.Q248K	ENST00000375774	NM_005537.4	248	Cag/Aag	0	validated		probablydamaging	
DOCK4		inserm.fr	GRCh37	7	111379477	111379477	+	synonymous_variant	Silent	SNP	T	A	A			CHC1598T																					ENST00000437633.1:c.5070A>T	p.Thr1690=	p.T1690=	ENST00000437633	NM_014705.3	1690	acA/acT	0	not done		synonymous	
SMARCA4		inserm.fr	GRCh37	19	11141554	11141554	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC614T									Valid												ENST00000344626.4:c.3531C>A	p.Asp1177Glu	p.D1177E	ENST00000344626	NM_003072.3	1177	gaC/gaA	0	validated		probablydamaging	
SHISA6		inserm.fr	GRCh37	17	11145184	11145184	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000441885.3:c.445G>A	p.Val149Met	p.V149M	ENST00000441885	NM_207386.3	149	Gtg/Atg	0	not done		probablydamaging	
ENPEP		inserm.fr	GRCh37	4	111452398	111452398	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC703T																					ENST00000265162.5:c.1772C>A	p.Thr591Lys	p.T591K	ENST00000265162	NM_001977.3	591	aCa/aAa	0	validated		benign	
ENPEP		inserm.fr	GRCh37	4	111482614	111482614	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000265162.5:c.2774G>A	p.Arg925Lys	p.R925K	ENST00000265162	NM_001977.3	925	aGg/aAg	0	not done		probablydamaging	
LRIF1		inserm.fr	GRCh37	1	111494195	111494195	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1725T																					ENST00000369763.4:c.1311G>T	p.Met437Ile	p.M437I	ENST00000369763	NM_018372.3	437	atG/atT	0	not done		benign	
EPB41L4A		inserm.fr	GRCh37	5	111540117	111540117	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1616T																					ENST00000261486.5:c.1331C>T	p.Pro444Leu	p.P444L	ENST00000261486	NM_022140.3	444	cCc/cTc	0	not done		benign	
SLC16A10		inserm.fr	GRCh37	6	111543215	111543215	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM703T																					ENST00000368851.5:c.1325G>A	p.Arg442His	p.R442H	ENST00000368851	NM_018593.4	442	cGt/cAt	0	validated		benign	
ACOXL		inserm.fr	GRCh37	2	111556644	111556644	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1725T																					ENST00000439055.1:c.514G>A	p.Gly172Arg	p.G172R	ENST00000439055	NM_001142807.1	172	Gga/Aga	0	not done		probablydamaging	
SIK2		inserm.fr	GRCh37	11	111594501	111594501	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2115T																					ENST00000304987.3:c.2429C>A	p.Ala810Asp	p.A810D	ENST00000304987	NM_015191.1	810	gCt/gAt	0	validated		benign	
ACTL7B		inserm.fr	GRCh37	9	111618019	111618019	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000374667.3:c.192C>T	p.Gly64=	p.G64=	ENST00000374667	NM_006686.3	64	ggC/ggT	0	not done		synonymous	
TTLL10		inserm.fr	GRCh37	1	1116227	1116227	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC437T																					ENST00000379290.1:c.742G>A	p.Gly248Arg	p.G248R	ENST00000379290		248	Ggg/Agg	0	not done		possiblydamaging	
EPB41L4A		inserm.fr	GRCh37	5	111643143	111643143	+	synonymous_variant	Silent	SNP	G	A	A			CHC2052T																					ENST00000261486.5:c.144C>T	p.His48=	p.H48=	ENST00000261486	NM_022140.3	48	caC/caT	0	not done		synonymous	
IKBKAP		inserm.fr	GRCh37	9	111655358	111655358	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1566T																					ENST00000374647.5:c.2866G>T	p.Glu956Ter	p.E956*	ENST00000374647	NM_003640.3	956	Gag/Tag	0	not done		damaging	
SHISA6		inserm.fr	GRCh37	17	11166752	11166752	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000441885.3:c.708G>A	p.Ser236=	p.S236=	ENST00000441885	NM_207386.3	236	tcG/tcA	0	not done		synonymous	
MTOR		inserm.fr	GRCh37	1	11169728	11169728	+	synonymous_variant	Silent	SNP	C	A	A			CHC1081T																					ENST00000361445.4:c.7425G>T	p.Val2475=	p.V2475=	ENST00000361445	NM_004958.3	2475	gtG/gtT	0	validated		synonymous	
ABHD10		inserm.fr	GRCh37	3	111700630	111700630	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000273359.3:c.143-1G>A		p.X48_splice	ENST00000273359	NM_018394.3			0	not done		damaging	
RP11-451M19.3		inserm.fr	GRCh37	10	111702461	111702461	+	downstream_gene_variant	3'Flank	SNP	C	A	A			BCM739T																								ENST00000369655				0	validated			
SBNO2		inserm.fr	GRCh37	19	1117404	1117404	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1597T																					ENST00000361757.3:c.1622A>T	p.Gln541Leu	p.Q541L	ENST00000361757	NM_014963.2	541	cAg/cTg	0	not done		possiblydamaging	
DENND2D		inserm.fr	GRCh37	1	111741263	111741263	+	synonymous_variant	Silent	SNP	G	A	A			CHC059T																					ENST00000357640.4:c.345C>T	p.Thr115=	p.T115=	ENST00000357640	NM_024901.4	115	acC/acT	0	validated		synonymous	
FDXACB1		inserm.fr	GRCh37	11	111746714	111746714	+	synonymous_variant	Silent	SNP	C	A	A			CHC1603T																					ENST00000260257.4:c.807G>T	p.Leu269=	p.L269=	ENST00000260257	NM_138378.2	269	ctG/ctT	0	not done		synonymous	
FDXACB1		inserm.fr	GRCh37	11	111747726	111747726	+	synonymous_variant	Silent	SNP	G	A	A			CHC912T																					ENST00000260257.4:c.339C>T	p.Asp113=	p.D113=	ENST00000260257	NM_138378.2	113	gaC/gaT	0	validated		synonymous	
TMPRSS7		inserm.fr	GRCh37	3	111766613	111766613	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000419127.1:c.380C>A	p.Ala127Glu	p.A127E	ENST00000419127	NM_001042575.2	127	gCa/gAa	0	not done		probablydamaging	
C3orf52		inserm.fr	GRCh37	3	111812337	111812337	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC1592T																					ENST00000431717.2:c.268+1G>A		p.X90_splice	ENST00000431717	NM_001171747.1			0	not done		damaging	
DIXDC1		inserm.fr	GRCh37	11	111844854	111844854	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000440460.2:c.424G>A	p.Ala142Thr	p.A142T	ENST00000440460	NM_001037954.3	142	Gcc/Acc	0	not done		benign	
DIXDC1		inserm.fr	GRCh37	11	111856000	111856000	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000440460.2:c.960G>A	p.Arg320=	p.R320=	ENST00000440460	NM_001037954.3	320	agG/agA	0	not done			
CHIA		inserm.fr	GRCh37	1	111857206	111857206	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1624T																					ENST00000369740.1:c.302T>A	p.Phe101Tyr	p.F101Y	ENST00000369740	NM_001258001.1	101	tTc/tAc	0	validated		benign	
CHIA		inserm.fr	GRCh37	1	111857977	111857977	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369740.1:c.400G>A	p.Gly134Arg	p.G134R	ENST00000369740	NM_001258001.1	134	Ggg/Agg	0	not done		probablydamaging	
CHIA		inserm.fr	GRCh37	1	111863008	111863008	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369740.1:c.1351G>A	p.Val451Met	p.V451M	ENST00000369740	NM_001258001.1	451	Gtg/Atg	0	not done		possiblydamaging	
DIXDC1		inserm.fr	GRCh37	11	111863142	111863142	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC898T																					ENST00000440460.2:c.1114G>A	p.Ala372Thr	p.A372T	ENST00000440460	NM_001037954.3	372	Gcc/Acc	0	not done		probablydamaging	
ADD3		inserm.fr	GRCh37	10	111883883	111883883	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000356080.4:c.1252G>A	p.Asp418Asn	p.D418N	ENST00000356080	NM_016824.3	418	Gat/Aat	0	validated		probablydamaging	
NEDD9		inserm.fr	GRCh37	6	11191143	11191143	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1207T																					ENST00000379446.5:c.959C>T	p.Pro320Leu	p.P320L	ENST00000379446	NM_001271033.1	320	cCc/cTc	0	not done		probablydamaging	
DLAT		inserm.fr	GRCh37	11	111914252	111914252	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000280346.6:c.1192G>A	p.Ala398Thr	p.A398T	ENST00000280346	NM_001931.4	398	Gct/Act	0	not done		benign	
BCL2L11		inserm.fr	GRCh37	2	111921737	111921737	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1211T																					ENST00000393256.3:c.526G>A	p.Glu176Lys	p.E176K	ENST00000393256	NM_006538.4	176	Gaa/Aaa	0	not done		probablydamaging	
EPB41L4B		inserm.fr	GRCh37	9	111965990	111965990	+	synonymous_variant	Silent	SNP	C	A	A			CHC1743T																					ENST00000374566.3:c.1899G>T	p.Pro633=	p.P633=	ENST00000374566	NM_019114.3	633	ccG/ccT	0	not done		synonymous	
ZNF277		inserm.fr	GRCh37	7	111976204	111976204	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1545T																					ENST00000361822.3:c.847G>A	p.Glu283Lys	p.E283K	ENST00000361822	NM_021994.2	283	Gag/Aag	0	not done		possiblydamaging	
FYN		inserm.fr	GRCh37	6	111983124	111983124	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM399T									Valid												ENST00000368678.4:c.1423C>T	p.Gln475Ter	p.Q475*	ENST00000368678		475	Cag/Tag	0	validated		damaging	
SLC9A10		inserm.fr	GRCh37	3	111988913	111988913	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1035T																					ENST00000305815.5:c.625G>T	p.Val209Leu	p.V209L	ENST00000305815	NM_183061.1	209	Gtg/Ttg	0	validated		benign	
C1orf162		inserm.fr	GRCh37	1	112020319	112020319	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000343534.5:c.249G>A	p.Trp83Ter	p.W83*	ENST00000343534	NM_174896.2	83	tgG/tgA	0	not done		damaging	
MXI1		inserm.fr	GRCh37	10	112038993	112038993	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB167T																					ENST00000332674.5:c.493C>A	p.Pro165Thr	p.P165T	ENST00000332674	NM_130439.3	165	Cca/Aca	0	validated		probablydamaging	
ARHGAP6		inserm.fr	GRCh37	X	11204415	11204415	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000337414.4:c.1214C>T	p.Pro405Leu	p.P405L	ENST00000337414	NM_013427.2	405	cCt/cTt	0	not done		probablydamaging	
AMOT		inserm.fr	GRCh37	X	112048286	112048286	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2215T																					ENST00000371959.3:c.1665A>T	p.Glu555Asp	p.E555D	ENST00000371959	NM_001113490.1	555	gaA/gaT	0	not done		probablydamaging	
CELF2		inserm.fr	GRCh37	10	11207550	11207550	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC327T									Valid												ENST00000450189.1:c.176C>A	p.Ser59Ter	p.S59*	ENST00000450189	NM_006561.3	59	tCg/tAg	0	validated		damaging	
BRAP		inserm.fr	GRCh37	12	112097048	112097048	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1597T																					ENST00000419234.4:c.1074G>T	p.Met358Ile	p.M358I	ENST00000419234	NM_006768.3	358	atG/atT	0	not done		probablydamaging	
APC		inserm.fr	GRCh37	5	112102918	112102918	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T									Valid												ENST00000257430.4:c.253G>A	p.Val85Ile	p.V85I	ENST00000257430	NM_000038.5	85	Gta/Ata	0	not done		possiblydamaging	
IFRD1		inserm.fr	GRCh37	7	112108068	112108068	+	synonymous_variant	Silent	SNP	G	A	A			CHC434T																					ENST00000403825.3:c.939G>A	p.Thr313=	p.T313=	ENST00000403825	NM_001550.3	313	acG/acA	0	validated		synonymous	
LSMEM1		inserm.fr	GRCh37	7	112127022	112127022	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000312849.4:c.172G>A	p.Gly58Arg	p.G58R	ENST00000312849	NM_182597.2	58	Gga/Aga	0	not done		benign	
ACAD10		inserm.fr	GRCh37	12	112140019	112140019	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000455480.2:c.241G>A	p.Glu81Lys	p.E81K	ENST00000455480	NM_001136538.1	81	Gaa/Aaa	0	not done		benign	
PTPN3		inserm.fr	GRCh37	9	112143964	112143964	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM723T																					ENST00000374541.2:c.2632C>T	p.Arg878Ter	p.R878*	ENST00000374541	NM_001145368.1	878	Cga/Tga	0	validated		damaging	
APC		inserm.fr	GRCh37	5	112176194	112176194	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000257430.4:c.4903G>A	p.Gly1635Arg	p.G1635R	ENST00000257430	NM_000038.5	1635	Ggg/Agg	0	not done		probablydamaging	
SRP19		inserm.fr	GRCh37	5	112197094	112197094	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000505459.1:c.21G>A	p.Arg7=	p.R7=	ENST00000505459	NM_001204193.1	7	cgG/cgA	0	not done		synonymous	
PTPN3		inserm.fr	GRCh37	9	112199206	112199206	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC898T																					ENST00000374541.2:c.632C>T	p.Ala211Val	p.A211V	ENST00000374541	NM_001145368.1	211	gCg/gTg	0	not done		probablydamaging	
PTPN3		inserm.fr	GRCh37	9	112207563	112207563	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000374541.2:c.423C>T	p.Cys141=	p.C141=	ENST00000374541	NM_001145368.1	141	tgC/tgT	0	not done		synonymous	
ALDH2		inserm.fr	GRCh37	12	112241740	112241740	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000261733.2:c.1484G>A	p.Gly495Asp	p.G495D	ENST00000261733	NM_000690.3	495	gGc/gAc	0	not done		probablydamaging	
LDLR		inserm.fr	GRCh37	19	11224413	11224413	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000558518.1:c.1561G>A	p.Ala521Thr	p.A521T	ENST00000558518	NM_001195798.1	521	Gcc/Acc	0	not done		possiblydamaging	
DUSP5		inserm.fr	GRCh37	10	112258141	112258141	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369583.3:c.262G>A	p.Val88Met	p.V88M	ENST00000369583	NM_004419.3	88	Gtg/Atg	0	not done		possiblydamaging	
CCDC80		inserm.fr	GRCh37	3	112337863	112337863	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000206423.3:c.2124C>T	p.Thr708=	p.T708=	ENST00000206423	NM_199512.1	708	acC/acT	0	not done		synonymous	
SMC3		inserm.fr	GRCh37	10	112350323	112350323	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM265T									Valid												ENST00000361804.4:c.1663G>A	p.Gly555Arg	p.G555R	ENST00000361804	NM_005445.3	555	Gga/Aga	0	validated		probablydamaging	
CCDC80		inserm.fr	GRCh37	3	112357508	112357508	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000206423.3:c.1245C>T	p.Tyr415=	p.Y415=	ENST00000206423	NM_199512.1	415	taC/taT	0	not done		synonymous	
SMC3		inserm.fr	GRCh37	10	112359428	112359428	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC891T																					ENST00000361804.4:c.2285G>A	p.Ser762Asn	p.S762N	ENST00000361804	NM_005445.3	762	aGt/aAt	0	not done		probablydamaging	
SMC3		inserm.fr	GRCh37	10	112360807	112360807	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000361804.4:c.2563G>A	p.Gly855Arg	p.G855R	ENST00000361804	NM_005445.3	855	Ggg/Agg	0	not done		benign	
MCC		inserm.fr	GRCh37	5	112440053	112440053	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC433T									Valid												ENST00000408903.3:c.1028-1G>T		p.X343_splice	ENST00000408903	NM_001085377.1			0	validated		damaging	
LAMA4		inserm.fr	GRCh37	6	112462591	112462591	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM399T									Valid												ENST00000230538.7:c.2782C>T	p.Pro928Ser	p.P928S	ENST00000230538	NM_001105206.2	928	Cct/Tct	0	validated		probablydamaging	
RBM20		inserm.fr	GRCh37	10	112541143	112541143	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369519.3:c.776G>A	p.Gly259Asp	p.G259D	ENST00000369519	NM_001134363.1	259	gGc/gAc	0	not done		probablydamaging	
RBM20		inserm.fr	GRCh37	10	112541528	112541528	+	synonymous_variant	Silent	SNP	G	A	A			CHC1182T																					ENST00000369519.3:c.1161G>A	p.Ala387=	p.A387=	ENST00000369519	NM_001134363.1	387	gcG/gcA	0	not done		synonymous	
ANGPTL7		inserm.fr	GRCh37	1	11254673	11254673	+	synonymous_variant	Silent	SNP	G	A	A			CHC1079T																					ENST00000376819.3:c.828G>A	p.Lys276=	p.K276=	ENST00000376819	NM_021146.3	276	aaG/aaA	0	not done		synonymous	
CD200R1L		inserm.fr	GRCh37	3	112548216	112548216	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC884T									Valid												ENST00000398214.1:c.62G>T	p.Cys21Phe	p.C21F	ENST00000398214	NM_001008784.2	21	tGc/tTc	0	validated		probablydamaging	
CD200R1		inserm.fr	GRCh37	3	112647788	112647788	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2352T																					ENST00000308611.3:c.644A>T	p.Tyr215Phe	p.Y215F	ENST00000308611	NM_138806.3	215	tAc/tTc	0	not done		benign	
CD200R1		inserm.fr	GRCh37	3	112648304	112648304	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000308611.3:c.253C>T	p.Pro85Ser	p.P85S	ENST00000308611	NM_138806.3	85	Cct/Tct	0	not done		benign	
HECTD4		inserm.fr	GRCh37	12	112665941	112665941	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC799T																					ENST00000550722.1:c.6368C>T	p.Ser2123Leu	p.S2123L	ENST00000550722	NM_001109662.3	2123	tCa/tTa	0	not done		benign	
MCC		inserm.fr	GRCh37	5	112676341	112676341	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1747T																					ENST00000408903.3:c.502C>T	p.Leu168Phe	p.L168F	ENST00000408903	NM_001085377.1	168	Ctc/Ttc	0	not done		possiblydamaging	
GPR85		inserm.fr	GRCh37	7	112723706	112723706	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000297146.3:c.1071C>T	p.Cys357=	p.C357=	ENST00000297146	NM_001146266.1	357	tgC/tgT	0	not done		synonymous	
GPR85		inserm.fr	GRCh37	7	112724312	112724312	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000297146.3:c.465C>T	p.Pro155=	p.P155=	ENST00000297146	NM_001146266.1	155	ccC/ccT	0	not done		synonymous	
GPR85		inserm.fr	GRCh37	7	112724548	112724548	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC879T																					ENST00000297146.3:c.229G>T	p.Val77Leu	p.V77L	ENST00000297146	NM_001146266.1	77	Gtg/Ttg	0	not done		probablydamaging	
C2orf50		inserm.fr	GRCh37	2	11273484	11273484	+	synonymous_variant	Silent	SNP	G	A	A			CHC1183T																					ENST00000381585.3:c.24G>A	p.Gly8=	p.G8=	ENST00000381585		8	ggG/ggA	0	not done		synonymous	
TMEM87B		inserm.fr	GRCh37	2	112824556	112824556	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1531T																					ENST00000283206.4:c.362G>A	p.Cys121Tyr	p.C121Y	ENST00000283206	NM_032824.2	121	tGt/tAt	0	not done		benign	
TMEM87B		inserm.fr	GRCh37	2	112856172	112856172	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1731T																					ENST00000283206.4:c.1273G>A	p.Asp425Asn	p.D425N	ENST00000283206	NM_032824.2	425	Gat/Aat	0	not done		possiblydamaging	
TMEM87B		inserm.fr	GRCh37	2	112858230	112858230	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB151T																					ENST00000283206.4:c.1408G>A	p.Asp470Asn	p.D470N	ENST00000283206	NM_032824.2	470	Gat/Aat	0	validated		probablydamaging	
SSTR5		inserm.fr	GRCh37	16	1128978	1128978	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000293897.4:c.110G>A	p.Gly37Glu	p.G37E	ENST00000293897	NM_001053.3	37	gGg/gAg	0	not done		benign	
PALM2AKAP2		inserm.fr	GRCh37	9	112900479	112900479	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000374530.3:c.2655G>A	p.Arg885=	p.R885=	ENST00000374530	NM_007203.4	885	agG/agA	0	not done		synonymous	
SSTR5		inserm.fr	GRCh37	16	1129151	1129151	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM695T																					ENST00000293897.4:c.283T>A	p.Phe95Ile	p.F95I	ENST00000293897	NM_001053.3	95	Ttc/Atc	0	validated		probablydamaging	
PTPN11		inserm.fr	GRCh37	12	112915521	112915521	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2099T																					ENST00000351677.2:c.920C>A	p.Ala307Glu	p.A307E	ENST00000351677	NM_002834.3	307	gCa/gAa	0	validated		probablydamaging	
YTHDC2		inserm.fr	GRCh37	5	112917364	112917364	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC327T									Valid												ENST00000161863.4:c.3605C>A	p.Ser1202Ter	p.S1202*	ENST00000161863	NM_022828.3	1202	tCa/tAa	0	validated		damaging	
CTTNBP2NL		inserm.fr	GRCh37	1	112999614	112999614	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000271277.6:c.1500G>A	p.Leu500=	p.L500=	ENST00000271277	NM_018704.2	500	ctG/ctA	0	not done		synonymous	
FAM167A		inserm.fr	GRCh37	8	11301687	11301687	+	synonymous_variant	Silent	SNP	C	A	A			CHC1725T																					ENST00000284486.4:c.234G>T	p.Gly78=	p.G78=	ENST00000284486	NM_053279.2	78	ggG/ggT	0	not done		synonymous	
PQLC3		inserm.fr	GRCh37	2	11317882	11317882	+	synonymous_variant	Silent	SNP	C	A	A			CHC433T																					ENST00000295083.3:c.537C>A	p.Ile179=	p.I179=	ENST00000295083	NM_152391.3	179	atC/atA	0	validated		synonymous	
SPICE1		inserm.fr	GRCh37	3	113187963	113187963	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1749T																					ENST00000295872.4:c.734C>T	p.Ser245Leu	p.S245L	ENST00000295872	NM_144718.3	245	tCa/tTa	0	not done		benign	
TTC12		inserm.fr	GRCh37	11	113194125	113194125	+	synonymous_variant	Silent	SNP	G	A	A			CHC2127T																					ENST00000529221.1:c.174G>A	p.Arg58=	p.R58=	ENST00000529221	NM_017868.3	58	agG/agA	0	not done		synonymous	
TTC12		inserm.fr	GRCh37	11	113205724	113205724	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB157T																					ENST00000529221.1:c.541G>A	p.Gly181Arg	p.G181R	ENST00000529221	NM_017868.3	181	Gga/Aga	0	validated		probablydamaging	
TTC12		inserm.fr	GRCh37	11	113210075	113210075	+	synonymous_variant	Silent	SNP	G	A	A			CHC2216T																					ENST00000529221.1:c.705G>A	p.Leu235=	p.L235=	ENST00000529221	NM_017868.3	235	ctG/ctA	0	not done		synonymous	
DOCK6		inserm.fr	GRCh37	19	11322747	11322747	+	synonymous_variant	Silent	SNP	G	A	A			CHC327T																					ENST00000294618.7:c.4572C>T	p.His1524=	p.H1524=	ENST00000294618	NM_020812.3	1524	caC/caT	0	validated		synonymous	
CSMD3		inserm.fr	GRCh37	8	113237040	113237040	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM759T																					ENST00000297405.5:c.11084G>T	p.Arg3695Leu	p.R3695L	ENST00000297405	NM_198123.1	3695	cGa/cTa	0	validated		probablydamaging	
TTC12		inserm.fr	GRCh37	11	113239007	113239007	+	downstream_gene_variant	3'Flank	SNP	T	A	A			CHC1600T																								ENST00000529221	NM_017868.3			0	not done			
MOV10		inserm.fr	GRCh37	1	113243071	113243071	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC314T									Valid												ENST00000413052.2:c.2954G>A	p.Arg985Gln	p.R985Q	ENST00000413052	NM_001130079.1	985	cGg/cAg	0	validated		benign	
RHOC		inserm.fr	GRCh37	1	113246339	113246339	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1207T																					ENST00000285735.2:c.83A>T	p.Asp28Val	p.D28V	ENST00000285735		28	gAt/gTt	0	not done		probablydamaging	
DRD2		inserm.fr	GRCh37	11	113283415	113283415	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1148T																					ENST00000362072.3:c.1001A>T	p.His334Leu	p.H334L	ENST00000362072	NM_000795.3	334	cAc/cTc	0	not done		benign	
DRD2		inserm.fr	GRCh37	11	113286187	113286187	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1601T																					ENST00000362072.3:c.679C>T	p.Arg227Cys	p.R227C	ENST00000362072	NM_000795.3	227	Cgc/Tgc	0	not done		benign	
SIDT1		inserm.fr	GRCh37	3	113286481	113286481	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1600T																					ENST00000264852.4:c.439G>A	p.Val147Ile	p.V147I	ENST00000264852	NM_017699.2	147	Gta/Ata	0	not done		possiblydamaging	
CSMD3		inserm.fr	GRCh37	8	113293476	113293476	+	synonymous_variant	Silent	SNP	G	A	A			CHC703T																					ENST00000297405.5:c.9435C>T	p.Tyr3145=	p.Y3145=	ENST00000297405	NM_198123.1	3145	taC/taT	0	not done		synonymous	
CELF2		inserm.fr	GRCh37	10	11330500	11330500	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC884T																					ENST00000450189.1:c.961G>A	p.Ala321Thr	p.A321T	ENST00000450189	NM_006561.3	321	Gcc/Acc	0	validated		benign	
POLR1B		inserm.fr	GRCh37	2	113306903	113306903	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000263331.5:c.552G>A	p.Met184Ile	p.M184I	ENST00000263331	NM_019014.4	184	atG/atA	0	not done		benign	
RPH3A		inserm.fr	GRCh37	12	113314609	113314609	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC961T									Valid												ENST00000389385.4:c.1109G>A	p.Arg370His	p.R370H	ENST00000389385	NM_001143854.1	370	cGc/cAc	0	validated		probablydamaging	
CSMD3		inserm.fr	GRCh37	8	113318267	113318267	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC121T									Valid												ENST00000297405.5:c.8040G>T	p.Trp2680Cys	p.W2680C	ENST00000297405	NM_198123.1	2680	tgG/tgT	0	validated		probablydamaging	
CSMD3		inserm.fr	GRCh37	8	113318310	113318310	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC121T									Valid												ENST00000297405.5:c.7997C>T	p.Ser2666Phe	p.S2666F	ENST00000297405	NM_198123.1	2666	tCc/tTc	0	validated		probablydamaging	
CSMD3		inserm.fr	GRCh37	8	113326209	113326209	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1624T																					ENST00000297405.5:c.7622A>T	p.Asn2541Ile	p.N2541I	ENST00000297405	NM_198123.1	2541	aAt/aTt	0	validated		benign	
RPH3A		inserm.fr	GRCh37	12	113327846	113327846	+	synonymous_variant	Silent	SNP	C	A	A			CHC307T																					ENST00000389385.4:c.1581C>A	p.Thr527=	p.T527=	ENST00000389385	NM_001143854.1	527	acC/acA	0	validated		synonymous	
OAS1		inserm.fr	GRCh37	12	113348912	113348912	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1035T									Valid												ENST00000445409.2:c.526G>A	p.Glu176Lys	p.E176K	ENST00000445409	NM_001032409.1	176	Gag/Aag	0	validated		possiblydamaging	
OAS1		inserm.fr	GRCh37	12	113349020	113349020	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000445409.2:c.634G>A	p.Val212Ile	p.V212I	ENST00000445409	NM_001032409.1	212	Gtc/Atc	0	not done		probablydamaging	
ALPK1		inserm.fr	GRCh37	4	113353533	113353533	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000458497.1:c.2830G>A	p.Gly944Arg	p.G944R	ENST00000458497	NM_001102406.1	944	Ggg/Agg	0	not done		benign	
CSMD3		inserm.fr	GRCh37	8	113418889	113418889	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000297405.5:c.5673C>T	p.Gly1891=	p.G1891=	ENST00000297405	NM_198123.1	1891	ggC/ggT	0	not done		synonymous	
SLC16A1		inserm.fr	GRCh37	1	113471777	113471777	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1616T																					ENST00000538576.1:c.154C>T	p.His52Tyr	p.H52Y	ENST00000538576	NM_001166496.1	52	Cat/Tat	0	not done		benign	
NT5DC4		inserm.fr	GRCh37	2	113479423	113479423	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000327581.4:c.40G>A	p.Gly14Arg	p.G14R	ENST00000327581		14	Ggg/Agg	0	not done			
CKAP2L		inserm.fr	GRCh37	2	113513568	113513568	+	synonymous_variant	Silent	SNP	T	A	A			CHC306T																					ENST00000302450.6:c.1380A>T	p.Thr460=	p.T460=	ENST00000302450	NM_152515.3	460	acA/acT	0	validated		synonymous	
DTX1		inserm.fr	GRCh37	12	113515832	113515832	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC912T																					ENST00000257600.3:c.863C>A	p.Thr288Asn	p.T288N	ENST00000257600	NM_004416.2	288	aCc/aAc	0	validated		benign	
PPP1R3A		inserm.fr	GRCh37	7	113518848	113518848	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1611T																					ENST00000284601.3:c.2299G>T	p.Glu767Ter	p.E767*	ENST00000284601	NM_002711.3	767	Gag/Tag	0	not done		damaging	
PPP1R3A		inserm.fr	GRCh37	7	113519927	113519927	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1743T																					ENST00000284601.3:c.1220A>T	p.Glu407Val	p.E407V	ENST00000284601	NM_002711.3	407	gAa/gTa	0	not done		probablydamaging	
DTX1		inserm.fr	GRCh37	12	113532598	113532598	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T									Valid												ENST00000257600.3:c.1232G>A	p.Cys411Tyr	p.C411Y	ENST00000257600	NM_004416.2	411	tGc/tAc	0	validated		probablydamaging	
DOCK6		inserm.fr	GRCh37	19	11354495	11354495	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC302T									Valid												ENST00000294618.7:c.1087G>T	p.Glu363Ter	p.E363*	ENST00000294618	NM_020812.3	363	Gaa/Taa	0	validated		damaging	
PPP1R3A		inserm.fr	GRCh37	7	113558922	113558922	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC2200T																					ENST00000284601.3:c.130C>T	p.Arg44Ter	p.R44*	ENST00000284601	NM_002711.3	44	Cga/Tga	0	not done		damaging	
LARP7		inserm.fr	GRCh37	4	113565823	113565823	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000509061.1:c.20-1G>A		p.X7_splice	ENST00000509061	NM_001267039.1			0	not done		damaging	
LARP7		inserm.fr	GRCh37	4	113571645	113571645	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000509061.1:c.1344G>A	p.Gln448=	p.Q448=	ENST00000509061	NM_001267039.1	448	caG/caA	0	not done		synonymous	
RASAL1		inserm.fr	GRCh37	12	113573263	113573263	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000546530.1:c.5C>T	p.Ala2Val	p.A2V	ENST00000546530	NM_004658.2	2	gCc/gTc	0	not done		probablydamaging	
LARP7		inserm.fr	GRCh37	4	113574283	113574283	+	synonymous_variant	Silent	SNP	G	A	A			CHC1053T																					ENST00000509061.1:c.1488G>A	p.Gly496=	p.G496=	ENST00000509061	NM_001267039.1	496	ggG/ggA	0	validated		synonymous	
CCDC42B		inserm.fr	GRCh37	12	113589784	113589784	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2052T																					ENST00000335621.6:c.118C>A	p.Gln40Lys	p.Q40K	ENST00000335621	NM_001144872.1	40	Caa/Aaa	0	not done		benign	
CCDC42B		inserm.fr	GRCh37	12	113595464	113595464	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC801T																					ENST00000335621.6:c.907C>A	p.Pro303Thr	p.P303T	ENST00000335621	NM_001144872.1	303	Cct/Act	0	not done		benign	
CSMD3		inserm.fr	GRCh37	8	113599453	113599453	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000297405.5:c.3727G>T	p.Ala1243Ser	p.A1243S	ENST00000297405	NM_198123.1	1243	Gca/Tca	0	not done		benign	
DDX54		inserm.fr	GRCh37	12	113602051	113602051	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2048T																					ENST00000314045.7:c.1759A>T	p.Ser587Cys	p.S587C	ENST00000314045	NM_001111322.1	587	Agc/Tgc	0	not done		probablydamaging	
DDX54		inserm.fr	GRCh37	12	113603499	113603499	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000314045.7:c.1669C>T	p.Leu557=	p.L557=	ENST00000314045	NM_001111322.1	557	Ctg/Ttg	0	not done		synonymous	
C12orf52		inserm.fr	GRCh37	12	113629589	113629589	+	synonymous_variant	Silent	SNP	G	A	A			BCB231T																					ENST00000548278.1:c.777G>A	p.Gly259=	p.G259=	ENST00000548278	NM_032848.1	259	ggG/ggA	0	validated		synonymous	
IQCD		inserm.fr	GRCh37	12	113633648	113633648	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2127T																					ENST00000299732.2:c.776C>T	p.Ser259Leu	p.S259L	ENST00000299732	NM_138451.1	259	tCg/tTg	0	not done		benign	
CSMD3		inserm.fr	GRCh37	8	113649186	113649186	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T																					ENST00000297405.5:c.3575G>T	p.Ser1192Ile	p.S1192I	ENST00000297405	NM_198123.1	1192	aGt/aTt	0	validated		benign	
GRAMD1C		inserm.fr	GRCh37	3	113655253	113655253	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM439T																					ENST00000358160.4:c.1597G>A	p.Gly533Arg	p.G533R	ENST00000358160	NM_017577.4	533	Gga/Aga	0	validated		benign	
GRAMD1C		inserm.fr	GRCh37	3	113664258	113664258	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM439T																					ENST00000358160.4:c.1922T>A	p.Leu641His	p.L641H	ENST00000358160	NM_017577.4	641	cTc/cAc	0	validated		probablydamaging	
IL37		inserm.fr	GRCh37	2	113676162	113676162	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1154T																					ENST00000263326.3:c.433G>A	p.Ala145Thr	p.A145T	ENST00000263326	NM_014439.3	145	Gcc/Acc	0	not done		benign	
USP28		inserm.fr	GRCh37	11	113677282	113677282	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2099T																					ENST00000003302.4:c.2329G>T	p.Gly777Trp	p.G777W	ENST00000003302	NM_020886.2	777	Ggg/Tgg	0	not done		probablydamaging	
TPCN1		inserm.fr	GRCh37	12	113710498	113710498	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC1186T																					ENST00000550785.1:c.999+1G>A		p.X333_splice	ENST00000550785	NM_001143819.1			0	not done		possiblydamaging	
ERC1		inserm.fr	GRCh37	12	1137113	1137113	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000397203.2:c.44G>A	p.Ser15Asn	p.S15N	ENST00000397203		15	aGc/aAc	0	not done		benign	
MCF2L		inserm.fr	GRCh37	13	113715020	113715020	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000535094.2:c.483G>A	p.Lys161=	p.K161=	ENST00000535094	NM_001112732.2	161	aaG/aaA	0	not done		synonymous	
MCF2L		inserm.fr	GRCh37	13	113719396	113719396	+	synonymous_variant	Silent	SNP	G	A	A			BCB151T																					ENST00000535094.2:c.753G>A	p.Ala251=	p.A251=	ENST00000535094	NM_001112732.2	251	gcG/gcA	0	validated		synonymous	
KIAA1407		inserm.fr	GRCh37	3	113724714	113724714	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM545T																					ENST00000295878.3:c.1509G>T	p.Leu503Phe	p.L503F	ENST00000295878	NM_020817.1	503	ttG/ttT	0	validated		benign	
IL36B		inserm.fr	GRCh37	2	113785580	113785580	+	intron_variant	Intron	SNP	C	A	A			CHC1611T																					ENST00000259213.4:c.261+936G>T		*87*	ENST00000259213	NM_014438.4			0	not done		probablydamaging	
PROZ		inserm.fr	GRCh37	13	113817365	113817365	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM711T																					ENST00000342783.4:c.368C>A	p.Ser123Tyr	p.S123Y	ENST00000342783	NM_001256134.1	123	tCt/tAt	0	validated		possiblydamaging	
PROZ		inserm.fr	GRCh37	13	113817367	113817367	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM711T																					ENST00000342783.4:c.370T>A	p.Cys124Ser	p.C124S	ENST00000342783	NM_001256134.1	124	Tgc/Agc	0	validated		probablydamaging	
DRD3		inserm.fr	GRCh37	3	113847691	113847691	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000383673.2:c.1075C>T	p.His359Tyr	p.H359Y	ENST00000383673	NM_000796.3	359	Cac/Tac	0	not done		benign	
HTR3A		inserm.fr	GRCh37	11	113848539	113848539	+	synonymous_variant	Silent	SNP	G	A	A			BCM783T																					ENST00000355556.2:c.132G>A	p.Ser44=	p.S44=	ENST00000355556	NM_213621.3	44	tcG/tcA	0	validated		synonymous	
CTNND2		inserm.fr	GRCh37	5	11385085	11385085	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000304623.8:c.869C>T	p.Ala290Val	p.A290V	ENST00000304623	NM_001332.2	290	gCc/gTc	0	not done		benign	
HTR3A		inserm.fr	GRCh37	11	113857748	113857748	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T																					ENST00000355556.2:c.1232C>A	p.Thr411Asn	p.T411N	ENST00000355556	NM_213621.3	411	aCc/aAc	0	validated		benign	
TNFRSF18		inserm.fr	GRCh37	1	1139135	1139135	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000328596.6:c.604C>T	p.Arg202Trp	p.R202W	ENST00000328596	NM_148901.1	202	Cgg/Tgg	0	not done			
GPAM		inserm.fr	GRCh37	10	113928113	113928113	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1774T																					ENST00000348367.4:c.1064C>T	p.Ser355Phe	p.S355F	ENST00000348367		355	tCc/tTc	0	validated		probablydamaging	
GPAM		inserm.fr	GRCh37	10	113940239	113940239	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC703T																					ENST00000348367.4:c.217C>T	p.Gln73Ter	p.Q73*	ENST00000348367		73	Cag/Tag	0	validated		damaging	
TNFRSF18		inserm.fr	GRCh37	1	1139441	1139441	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000328596.6:c.399-101C>T		*133*	ENST00000328596	NM_148901.1			0	not done		synonymous	
PSD4		inserm.fr	GRCh37	2	113950705	113950705	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000245796.6:c.1919G>A	p.Arg640Gln	p.R640Q	ENST00000245796	NM_012455.2	640	cGg/cAg	0	not done		probablydamaging	
GALNT18		inserm.fr	GRCh37	11	11400763	11400763	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1182T																					ENST00000227756.4:c.644A>T	p.Gln215Leu	p.Q215L	ENST00000227756	NM_198516.2	215	cAg/cTg	0	not done		benign	
HS3ST1		inserm.fr	GRCh37	4	11401141	11401141	+	synonymous_variant	Silent	SNP	G	A	A			CHC2048T																					ENST00000002596.5:c.489C>T	p.Asn163=	p.N163=	ENST00000002596	NM_005114.2	163	aaC/aaT	0	not done		synonymous	
HS3ST1		inserm.fr	GRCh37	4	11401271	11401271	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000002596.5:c.359C>T	p.Thr120Ile	p.T120I	ENST00000002596	NM_005114.2	120	aCc/aTc	0	not done		probablydamaging	
HS3ST1		inserm.fr	GRCh37	4	11401465	11401465	+	synonymous_variant	Silent	SNP	C	A	A			CHC891T																					ENST00000002596.5:c.165G>T	p.Pro55=	p.P55=	ENST00000002596	NM_005114.2	55	ccG/ccT	0	not done		synonymous	
MAGI3		inserm.fr	GRCh37	1	114128203	114128203	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM269T									Valid												ENST00000307546.9:c.748G>A	p.Gly250Ser	p.G250S	ENST00000307546	NM_001142782.1	250	Ggc/Agc	0	validated		possiblydamaging	
PRB3		inserm.fr	GRCh37	12	11420581	11420581	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC796T																					ENST00000381842.3:c.602C>T	p.Pro201Leu	p.P201L	ENST00000381842	NM_006249.4	201	cCg/cTg	0	validated		probablydamaging	
ANK2		inserm.fr	GRCh37	4	114257141	114257141	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC892T																					ENST00000357077.4:c.3519C>A	p.Ser1173Arg	p.S1173R	ENST00000357077	NM_001148.4	1173	agC/agA	0	not done		probablydamaging	
FOXP2		inserm.fr	GRCh37	7	114269647	114269647	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000408937.3:c.472-213G>A		*158*	ENST00000408937	NM_014491.3			0	not done		damaging	
HDAC2		inserm.fr	GRCh37	6	114270230	114270230	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2216T																					ENST00000519065.1:c.754A>T	p.Met252Leu	p.M252L	ENST00000519065		252	Atg/Ttg	0	not done		benign	
ANK2		inserm.fr	GRCh37	4	114274550	114274550	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000357077.4:c.4776G>A	p.Trp1592Ter	p.W1592*	ENST00000357077	NM_001148.4	1592	tgG/tgA	0	not done		damaging	
ANK2		inserm.fr	GRCh37	4	114274805	114274805	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000357077.4:c.5031G>A	p.Lys1677=	p.K1677=	ENST00000357077	NM_001148.4	1677	aaG/aaA	0	not done		synonymous	
ANK2		inserm.fr	GRCh37	4	114276026	114276026	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000357077.4:c.6252G>A	p.Lys2084=	p.K2084=	ENST00000357077	NM_001148.4	2084	aaG/aaA	0	not done		synonymous	
ANK2		inserm.fr	GRCh37	4	114290867	114290867	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1055T									Valid												ENST00000357077.4:c.11516G>A	p.Ser3839Asn	p.S3839N	ENST00000357077	NM_001148.4	3839	aGc/aAc	0	validated		possiblydamaging	
ATP4B		inserm.fr	GRCh37	13	114303786	114303786	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000335288.4:c.779C>T	p.Ala260Val	p.A260V	ENST00000335288	NM_000705.3	260	gCc/gTc	0	not done		benign	
GRK1		inserm.fr	GRCh37	13	114325864	114325864	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000335678.6:c.878G>A	p.Arg293His	p.R293H	ENST00000335678	NM_002929.2	293	cGc/cAc	0	not done		probablydamaging	
RSBN1		inserm.fr	GRCh37	1	114354544	114354544	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1602T																					ENST00000261441.5:c.491C>T	p.Ala164Val	p.A164V	ENST00000261441	NM_018364.3	164	gCc/gTc	0	not done		possiblydamaging	
LRCH2		inserm.fr	GRCh37	X	114357089	114357089	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC902T																					ENST00000317135.8:c.2178+1G>T		p.X726_splice	ENST00000317135	NM_020871.3			0	not done		damaging	
C1QTNF8		inserm.fr	GRCh37	16	1143938	1143938	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000328449.5:c.322C>T	p.Pro108Ser	p.P108S	ENST00000328449	NM_207419.3	108	Ccg/Tcg	0	not done		probablydamaging	
DNAJC25		inserm.fr	GRCh37	9	114393996	114393996	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000313525.3:c.309G>A	p.Leu103=	p.L103=	ENST00000313525	NM_001015882.2	103	ctG/ctA	0	not done		synonymous	
RBMXL3		inserm.fr	GRCh37	X	114424741	114424741	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1085T																					ENST00000424776.3:c.737G>A	p.Cys246Tyr	p.C246Y	ENST00000424776	NM_001145346.1	246	tGc/tAc	0	validated		possiblydamaging	
RBMXL3		inserm.fr	GRCh37	X	114424933	114424933	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC898T																					ENST00000424776.3:c.929C>A	p.Pro310Gln	p.P310Q	ENST00000424776	NM_001145346.1	310	cCa/cAa	0	not done		probablydamaging	
DCLRE1B		inserm.fr	GRCh37	1	114448340	114448340	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369563.3:c.132G>A	p.Trp44Ter	p.W44*	ENST00000369563	NM_022836.3	44	tgG/tgA	0	not done		damaging	
NXPE4		inserm.fr	GRCh37	11	114453071	114453071	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1725T																					ENST00000375478.3:c.769A>T	p.Met257Leu	p.M257L	ENST00000375478	NM_001077639.1	257	Atg/Ttg	0	not done		probablydamaging	
NXPE4		inserm.fr	GRCh37	11	114453389	114453389	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1603T																					ENST00000375478.3:c.451G>T	p.Ala151Ser	p.A151S	ENST00000375478	NM_001077639.1	151	Gct/Tct	0	not done		probablydamaging	
HIPK1		inserm.fr	GRCh37	1	114495478	114495478	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369558.1:c.1167G>A	p.Trp389Ter	p.W389*	ENST00000369558		389	tgG/tgA	0	not done		damaging	
GAS6		inserm.fr	GRCh37	13	114535391	114535391	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC051T									Valid												ENST00000327773.6:c.1024G>T	p.Asp342Tyr	p.D342Y	ENST00000327773	NM_000820.2	342	Gac/Tac	0	validated		probablydamaging	
LUZP4		inserm.fr	GRCh37	X	114536559	114536559	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1626T																					ENST00000371920.3:c.94G>A	p.Asp32Asn	p.D32N	ENST00000371920	NM_016383.3	32	Gac/Aac	0	not done		probablydamaging	
SHISA6		inserm.fr	GRCh37	17	11461197	11461197	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1603T																					ENST00000441885.3:c.1232G>A	p.Arg411His	p.R411H	ENST00000441885	NM_207386.3	411	cGc/cAc	0	not done		probablydamaging	
SHISA6		inserm.fr	GRCh37	17	11461316	11461316	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1192T																					ENST00000441885.3:c.1351C>A	p.Arg451Ser	p.R451S	ENST00000441885	NM_207386.3	451	Cgc/Agc	0	not done		probablydamaging	
SHISA6		inserm.fr	GRCh37	17	11461507	11461507	+	synonymous_variant	Silent	SNP	G	A	A			BCM269T																					ENST00000441885.3:c.1542G>A	p.Thr514=	p.T514=	ENST00000441885	NM_207386.3	514	acG/acA	0	validated		synonymous	
SYT6		inserm.fr	GRCh37	1	114640417	114640417	+	synonymous_variant	Silent	SNP	G	A	A			CHC1148T																					ENST00000609117.1:c.1192C>T	p.Leu398=	p.L398=	ENST00000609117		398	Ctg/Ttg	0	not done		synonymous	
SYT6		inserm.fr	GRCh37	1	114680401	114680401	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1749T																					ENST00000609117.1:c.532G>T	p.Gly178Ter	p.G178*	ENST00000609117		178	Gga/Tga	0	not done		damaging	
RHBDF1		inserm.fr	GRCh37	16	114727	114727	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC432T																					ENST00000262316.6:c.218G>T	p.Arg73Leu	p.R73L	ENST00000262316	NM_022450.3	73	cGc/cTc	0	not done		probablydamaging	
TBX5		inserm.fr	GRCh37	12	114793593	114793593	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1626T																					ENST00000310346.4:c.1301C>T	p.Pro434Leu	p.P434L	ENST00000310346	NM_000192.3	434	cCc/cTc	0	not done		possiblydamaging	
ARSJ		inserm.fr	GRCh37	4	114823471	114823471	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC879T																					ENST00000315366.7:c.1759G>T	p.Val587Phe	p.V587F	ENST00000315366	NM_024590.3	587	Gtc/Ttc	0	not done		benign	
FEM1C		inserm.fr	GRCh37	5	114860919	114860919	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC320T									Valid												ENST00000274457.3:c.940G>T	p.Asp314Tyr	p.D314Y	ENST00000274457	NM_020177.2	314	Gat/Tat	0	validated		probablydamaging	
SUSD1		inserm.fr	GRCh37	9	114864475	114864475	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1209T																					ENST00000374270.3:c.1262G>T	p.Gly421Val	p.G421V	ENST00000374270	NM_022486.3	421	gGa/gTa	0	not done		possiblydamaging	
RASA3		inserm.fr	GRCh37	13	114897940	114897940	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1739T																					ENST00000334062.7:c.25C>T	p.Arg9Trp	p.R9W	ENST00000334062	NM_007368.2	9	Cgg/Tgg	0	validated		probablydamaging	
SUSD1		inserm.fr	GRCh37	9	114905899	114905899	+	synonymous_variant	Silent	SNP	T	A	A			CHC1192T																					ENST00000374270.3:c.378A>T	p.Ile126=	p.I126=	ENST00000374270	NM_022486.3	126	atA/atT	0	not done		synonymous	
TRIM33		inserm.fr	GRCh37	1	114942152	114942152	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2321T																					ENST00000358465.2:c.3047A>T	p.Gln1016Leu	p.Q1016L	ENST00000358465	NM_015906.3	1016	cAa/cTa	0	validated		benign	
CDC16		inserm.fr	GRCh37	13	115002300	115002300	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000360383.3:c.130G>A	p.Ala44Thr	p.A44T	ENST00000360383	NM_001078645.1	44	Gct/Act	0	not done		probablydamaging	
DNAH9		inserm.fr	GRCh37	17	11501970	11501970	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000262442.4:c.155C>A	p.Ala52Glu	p.A52E	ENST00000262442	NM_001372.3	52	gCg/gAg	0	not done		benign	
DNAH9		inserm.fr	GRCh37	17	11501989	11501989	+	synonymous_variant	Silent	SNP	C	A	A			CHC1568T																					ENST00000262442.4:c.174C>A	p.Ala58=	p.A58=	ENST00000262442	NM_001372.3	58	gcC/gcA	0	not done		synonymous	
UPF3A		inserm.fr	GRCh37	13	115047277	115047277	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1717T																					ENST00000375299.3:c.163G>A	p.Gly55Ser	p.G55S	ENST00000375299	NM_023011.3	55	Ggt/Agt	0	not done		possiblydamaging	
TBX3		inserm.fr	GRCh37	12	115112252	115112252	+	synonymous_variant	Silent	SNP	G	A	A			CHC2099T																					ENST00000257566.3:c.1488C>T	p.Gly496=	p.G496=	ENST00000257566	NM_016569.3	496	ggC/ggT	0	not done		synonymous	
AQPEP		inserm.fr	GRCh37	5	115298627	115298627	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM703T																					ENST00000357872.4:c.313C>A	p.Leu105Met	p.L105M	ENST00000357872	NM_173800.4	105	Ctg/Atg	0	validated		probablydamaging	
AQPEP		inserm.fr	GRCh37	5	115336764	115336764	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000357872.4:c.1648G>A	p.Ala550Thr	p.A550T	ENST00000357872	NM_173800.4	550	Gcc/Acc	0	not done		benign	
HABP2		inserm.fr	GRCh37	10	115336951	115336951	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1746T																					ENST00000351270.3:c.374G>A	p.Cys125Tyr	p.C125Y	ENST00000351270	NM_004132.3	125	tGt/tAt	0	not done		probablydamaging	
AQPEP		inserm.fr	GRCh37	5	115348072	115348072	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000357872.4:c.2249G>A	p.Arg750Lys	p.R750K	ENST00000357872	NM_173800.4	750	aGg/aAg	0	not done		benign	
GAP43		inserm.fr	GRCh37	3	115382683	115382683	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1545T																					ENST00000393780.3:c.58G>A	p.Gly20Arg	p.G20R	ENST00000393780	NM_001130064.1	20	Gga/Aga	0	not done			
LOC400499		inserm.fr	GRCh37	16	11544580	11544580	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1712T																					ENST00000598234.1:c.4037C>T	p.Thr1346Met	p.T1346M	ENST00000598234		1346	aCg/aTg	0	not done			
PRB2		inserm.fr	GRCh37	12	11547439	11547439	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000389362.4:c.90C>T	p.Ser30=	p.S30=	ENST00000389362	NM_006248.3	30	tcC/tcT	0	not done		synonymous	
UGT8		inserm.fr	GRCh37	4	115544834	115544834	+	synonymous_variant	Silent	SNP	C	A	A			CHC1041T																					ENST00000310836.6:c.798C>A	p.Thr266=	p.T266=	ENST00000310836	NM_001128174.1	266	acC/acA	0	validated		synonymous	
TFEC		inserm.fr	GRCh37	7	115581977	115581977	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1741T																					ENST00000265440.7:c.633G>T	p.Gln211His	p.Q211H	ENST00000265440	NM_012252.3	211	caG/caT	0	not done		benign	
PRKCSH		inserm.fr	GRCh37	19	11558600	11558600	+	synonymous_variant	Silent	SNP	C	A	A			CHC313T																					ENST00000252455.2:c.1101C>A	p.Ile367=	p.I367=	ENST00000252455	NM_002743.2	367	atC/atA	0	validated		synonymous	
UGT8		inserm.fr	GRCh37	4	115589324	115589324	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000310836.6:c.1126G>A	p.Gly376Arg	p.G376R	ENST00000310836	NM_001128174.1	376	Gga/Aga	0	not done		probablydamaging	
PTCHD2		inserm.fr	GRCh37	1	11561449	11561449	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000294484.6:c.400G>A	p.Gly134Arg	p.G134R	ENST00000294484	NM_020780.1	134	Ggg/Agg	0	not done		probablydamaging	
NHLRC2		inserm.fr	GRCh37	10	115639393	115639393	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369301.3:c.848G>A	p.Gly283Asp	p.G283D	ENST00000369301	NM_198514.3	283	gGt/gAt	0	not done		probablydamaging	
SLC46A2		inserm.fr	GRCh37	9	115649687	115649687	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000374228.4:c.1136C>T	p.Ala379Val	p.A379V	ENST00000374228	NM_033051.3	379	gCc/gTc	0	not done		probablydamaging	
NHLRC2		inserm.fr	GRCh37	10	115661618	115661618	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369301.3:c.1333G>A	p.Ala445Thr	p.A445T	ENST00000369301	NM_198514.3	445	Gca/Aca	0	not done		probablydamaging	
PTCHD2		inserm.fr	GRCh37	1	11576134	11576134	+	synonymous_variant	Silent	SNP	C	A	A			CHC2048T																					ENST00000294484.6:c.1665C>A	p.Ile555=	p.I555=	ENST00000294484	NM_020780.1	555	atC/atA	0	not done		synonymous	
PTCHD2		inserm.fr	GRCh37	1	11576198	11576198	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000294484.6:c.1729G>A	p.Ala577Thr	p.A577T	ENST00000294484	NM_020780.1	577	Gca/Aca	0	not done		probablydamaging	
ELAVL3		inserm.fr	GRCh37	19	11577427	11577427	+	synonymous_variant	Silent	SNP	G	A	A			CHC051T																					ENST00000359227.3:c.225C>T	p.Ile75=	p.I75=	ENST00000359227	NM_001420.3	75	atC/atT	0	validated		synonymous	
ELAVL3		inserm.fr	GRCh37	19	11577552	11577552	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1210T																					ENST00000359227.3:c.100A>T	p.Thr34Ser	p.T34S	ENST00000359227	NM_001420.3	34	Act/Tct	0	validated		benign	
SEMA6A		inserm.fr	GRCh37	5	115782453	115782453	+	synonymous_variant	Silent	SNP	G	A	A			CHC1756T																					ENST00000343348.6:c.2949C>T	p.Val983=	p.V983=	ENST00000343348	NM_020796.3	983	gtC/gtT	0	not done		synonymous	
SEMA6A		inserm.fr	GRCh37	5	115840619	115840619	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000343348.6:c.22C>T	p.Leu8=	p.L8=	ENST00000343348	NM_020796.3	8	Cta/Tta	0	not done		synonymous	
C10orf118		inserm.fr	GRCh37	10	115885750	115885750	+	synonymous_variant	Silent	SNP	T	A	A			BCM275T																					ENST00000369287.3:c.2508A>T	p.Thr836=	p.T836=	ENST00000369287	NM_018017.2	836	acA/acT	0	validated		synonymous	
TES		inserm.fr	GRCh37	7	115889298	115889298	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1028T																					ENST00000358204.4:c.338G>A	p.Trp113Ter	p.W113*	ENST00000358204	NM_015641.3	113	tGg/tAg	0	not done		damaging	
PTCHD2		inserm.fr	GRCh37	1	11591071	11591071	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000294484.6:c.3210G>A	p.Gly1070=	p.G1070=	ENST00000294484	NM_020780.1	1070	ggG/ggA	0	not done		synonymous	
ZNF653		inserm.fr	GRCh37	19	11596491	11596491	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM671T																					ENST00000293771.5:c.1550G>T	p.Arg517Leu	p.R517L	ENST00000293771	NM_138783.3	517	cGg/cTg	0	validated		probablydamaging	
TDRD1		inserm.fr	GRCh37	10	115970669	115970669	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000251864.2:c.1603C>A	p.Pro535Thr	p.P535T	ENST00000251864	NM_198795.1	535	Cct/Act	0	not done		benign	
VWA2		inserm.fr	GRCh37	10	116045801	116045801	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000603594.1:c.1101G>A	p.Lys367=	p.K367=	ENST00000603594		367	aaG/aaA	0	not done		synonymous	
VWA2		inserm.fr	GRCh37	10	116049022	116049022	+	synonymous_variant	Silent	SNP	C	A	A			CHC1035T																					ENST00000603594.1:c.1896C>A	p.Val632=	p.V632=	ENST00000603594		632	gtC/gtA	0	validated		synonymous	
PRPF4		inserm.fr	GRCh37	9	116053789	116053789	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM723T																					ENST00000374198.4:c.1418C>A	p.Thr473Lys	p.T473K	ENST00000374198	NM_001244926.1	473	aCa/aAa	0	validated		possiblydamaging	
AFAP1L2		inserm.fr	GRCh37	1	116073668	116073668			NA		C	A				CHC320T									Valid																				validated		probablydamaging	
AFAP1L2		inserm.fr	GRCh37	10	116073669	116073669	+	synonymous_variant	Silent	SNP	C	A	A			CHC320T																					ENST00000304129.4:c.753G>T	p.Leu251=	p.L251=	ENST00000304129	NM_001287824.1	251	ctG/ctT	0	validated		synonymous	
BSPRY		inserm.fr	GRCh37	9	116122804	116122804	+	synonymous_variant	Silent	SNP	G	A	A			CHC1065T																					ENST00000374183.4:c.318G>A	p.Ala106=	p.A106=	ENST00000374183	NM_017688.2	106	gcG/gcA	0	validated		synonymous	
BSPRY		inserm.fr	GRCh37	9	116122936	116122936	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000374183.4:c.450G>A	p.Trp150Ter	p.W150*	ENST00000374183	NM_017688.2	150	tgG/tgA	0	not done		damaging	
ZNF653		inserm.fr	GRCh37	19	11616326	11616326	+	synonymous_variant	Silent	SNP	G	A	A			CHC313T																					ENST00000293771.5:c.276C>T	p.Arg92=	p.R92=	ENST00000293771	NM_138783.3	92	cgC/cgT	0	validated		synonymous	
CASQ2		inserm.fr	GRCh37	1	116245575	116245575	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000261448.5:c.981C>T	p.Phe327=	p.F327=	ENST00000261448	NM_001232.3	327	ttC/ttT	0	not done		synonymous	
RGS3		inserm.fr	GRCh37	9	116268685	116268685	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000374140.2:c.997G>A	p.Ala333Thr	p.A333T	ENST00000374140	NM_144488.5	333	Gca/Aca	0	not done		probablydamaging	
MED13L		inserm.fr	GRCh37	12	116421018	116421018	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000281928.3:c.4859G>T	p.Gly1620Val	p.G1620V	ENST00000281928	NM_015335.4	1620	gGc/gTc	0	not done		probablydamaging	
MED13L		inserm.fr	GRCh37	12	116421237	116421237	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2141T																					ENST00000281928.3:c.4640C>T	p.Pro1547Leu	p.P1547L	ENST00000281928	NM_015335.4	1547	cCc/cTc	0	not done		benign	
COL10A1		inserm.fr	GRCh37	6	116442057	116442057	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000327673.4:c.1222C>T	p.Pro408Ser	p.P408S	ENST00000327673		408	Cca/Tca	0	not done		benign	
SPON2		inserm.fr	GRCh37	4	1164952	1164952	+	synonymous_variant	Silent	SNP	G	A	A			BCM371T																					ENST00000290902.5:c.471C>T	p.Pro157=	p.P157=	ENST00000290902	NM_012445.3	157	ccC/ccT	0	validated		synonymous	
DNAH9		inserm.fr	GRCh37	17	11650930	11650930	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1725T																					ENST00000262442.4:c.6457G>A	p.Ala2153Thr	p.A2153T	ENST00000262442	NM_001372.3	2153	Gct/Act	0	not done		probablydamaging	
SLC22A15		inserm.fr	GRCh37	1	116563342	116563342	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369503.4:c.434G>A	p.Gly145Asp	p.G145D	ENST00000369503	NM_018420.2	145	gGt/gAt	0	not done		probablydamaging	
TRPS1		inserm.fr	GRCh37	8	116616340	116616340	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1044T																					ENST00000395715.3:c.1856C>T	p.Ala619Val	p.A619V	ENST00000395715	NM_014112.2	619	gCg/gTg	0	not done		benign	
TRPS1		inserm.fr	GRCh37	8	116616978	116616978	+	synonymous_variant	Silent	SNP	G	A	A			CHC1209T																					ENST00000395715.3:c.1218C>T	p.Asp406=	p.D406=	ENST00000395715	NM_014112.2	406	gaC/gaT	0	not done		synonymous	
TRPS1		inserm.fr	GRCh37	8	116617196	116617196	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2216T																					ENST00000395715.3:c.1000C>T	p.Arg334Trp	p.R334W	ENST00000395715	NM_014112.2	334	Cgg/Tgg	0	not done		probablydamaging	
TRUB1		inserm.fr	GRCh37	10	116698036	116698036	+	synonymous_variant	Silent	SNP	G	A	A			CHC451T																					ENST00000298746.3:c.24G>A	p.Val8=	p.V8=	ENST00000298746	NM_139169.4	8	gtG/gtA	0	not done		synonymous	
DNAH9		inserm.fr	GRCh37	17	11672459	11672459	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM269T									Valid												ENST00000262442.4:c.7365T>A	p.Ser2455Arg	p.S2455R	ENST00000262442	NM_001372.3	2455	agT/agA	0	validated		possiblydamaging	
DNAH9		inserm.fr	GRCh37	17	11672519	11672519	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC909T																					ENST00000262442.4:c.7425G>A	p.Met2475Ile	p.M2475I	ENST00000262442	NM_001372.3	2475	atG/atA	0	not done		probablydamaging	
SIK3		inserm.fr	GRCh37	11	116767060	116767060	+	synonymous_variant	Silent	SNP	G	A	A			CHC097T																					ENST00000292055.4:c.600C>T	p.Cys200=	p.C200=	ENST00000292055	NM_025164.3	200	tgC/tgT	0	not done		synonymous	
FAM26F		inserm.fr	GRCh37	6	116783197	116783197	+	synonymous_variant	Silent	SNP	C	A	A			CHC320T																					ENST00000368605.1:c.105C>A	p.Ser35=	p.S35=	ENST00000368605	NM_001010919.2	35	tcC/tcA	0	validated		synonymous	
ZNF618		inserm.fr	GRCh37	9	116811354	116811354	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000288466.7:c.1493G>A	p.Ser498Asn	p.S498N	ENST00000288466	NM_133374.2	498	aGc/aAc	0	not done		benign	
ST7		inserm.fr	GRCh37	7	116830931	116830931	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1041T									Valid												ENST00000265437.5:c.1195G>A	p.Glu399Lys	p.E399K	ENST00000265437	NM_021908.2	399	Gag/Aag	0	validated		probablydamaging	
FAM26E		inserm.fr	GRCh37	6	116833207	116833207	+	synonymous_variant	Silent	SNP	T	A	A			CHC1152T																					ENST00000368599.3:c.348T>A	p.Ser116=	p.S116=	ENST00000368599	NM_153711.2	116	tcT/tcA	0	not done		synonymous	
DNAH9		inserm.fr	GRCh37	17	11684393	11684393	+	synonymous_variant	Silent	SNP	C	A	A			CHC734T																					ENST00000262442.4:c.7620C>A	p.Leu2540=	p.L2540=	ENST00000262442	NM_001372.3	2540	ctC/ctA	0	not done		synonymous	
COL27A1		inserm.fr	GRCh37	9	116930693	116930693	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000356083.3:c.858G>A	p.Arg286=	p.R286=	ENST00000356083	NM_032888.2	286	agG/agA	0	not done		synonymous	
ATP1A1		inserm.fr	GRCh37	1	116932324	116932324	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC303T									Valid												ENST00000537345.1:c.1018G>A	p.Val340Ile	p.V340I	ENST00000537345	NM_001160233.1	340	Gtc/Atc	0	validated		probablydamaging	
COL27A1		inserm.fr	GRCh37	9	116994102	116994102	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000356083.3:c.2521G>A	p.Gly841Arg	p.G841R	ENST00000356083	NM_032888.2	841	Gga/Aga	0	not done		probablydamaging	
ATRNL1		inserm.fr	GRCh37	10	117001369	117001369	+	synonymous_variant	Silent	SNP	G	A	A			CHC2098T																					ENST00000355044.3:c.1542G>A	p.Leu514=	p.L514=	ENST00000355044	NM_207303.2	514	ttG/ttA	0	not done		synonymous	
COL27A1		inserm.fr	GRCh37	9	117008157	117008157	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000356083.3:c.2946G>A	p.Gly982=	p.G982=	ENST00000356083	NM_032888.2	982	ggG/ggA	0	not done		synonymous	
DNAH9		inserm.fr	GRCh37	17	11701104	11701104	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1746T																					ENST00000262442.4:c.8414G>A	p.Arg2805His	p.R2805H	ENST00000262442	NM_001372.3	2805	cGc/cAc	0	not done		benign	
COL27A1		inserm.fr	GRCh37	9	117020857	117020857	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000356083.3:c.3178G>A	p.Gly1060Arg	p.G1060R	ENST00000356083	NM_032888.2	1060	Gga/Aga	0	not done		probablydamaging	
ASZ1		inserm.fr	GRCh37	7	117024815	117024815	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000284629.2:c.652C>T	p.Pro218Ser	p.P218S	ENST00000284629	NM_130768.2	218	Cca/Tca	0	not done		probablydamaging	
ATRNL1		inserm.fr	GRCh37	10	117045852	117045852	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T									Valid												ENST00000355044.3:c.2360C>A	p.Thr787Lys	p.T787K	ENST00000355044	NM_207303.2	787	aCa/aAa	0	validated		probablydamaging	
COL27A1		inserm.fr	GRCh37	9	117053163	117053163	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1601T																					ENST00000356083.3:c.4442G>A	p.Gly1481Asp	p.G1481D	ENST00000356083	NM_032888.2	1481	gGc/gAc	0	not done		probablydamaging	
FAM162B		inserm.fr	GRCh37	6	117086692	117086692	+	synonymous_variant	Silent	SNP	T	A	A			BCM399T																					ENST00000368557.4:c.48A>T	p.Thr16=	p.T16=	ENST00000368557	NM_001085480.2	16	acA/acT	0	validated		synonymous	
PCSK7		inserm.fr	GRCh37	11	117090403	117090403	+	synonymous_variant	Silent	SNP	C	A	A			CHC1211T																					ENST00000320934.3:c.1227G>T	p.Ala409=	p.A409=	ENST00000320934	NM_004716.2	409	gcG/gcT	0	not done		synonymous	
DNAH9		inserm.fr	GRCh37	17	11711108	11711108	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262442.4:c.8480G>A	p.Gly2827Asp	p.G2827D	ENST00000262442	NM_001372.3	2827	gGt/gAt	0	not done		probablydamaging	
GPRC6A		inserm.fr	GRCh37	6	117113644	117113644	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1602T																					ENST00000310357.3:c.2442G>T	p.Glu814Asp	p.E814D	ENST00000310357	NM_148963.2	814	gaG/gaT	0	not done		probablydamaging	
GPRC6A		inserm.fr	GRCh37	6	117128086	117128086	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1741T																					ENST00000310357.3:c.782C>T	p.Thr261Ile	p.T261I	ENST00000310357	NM_148963.2	261	aCa/aTa	0	not done		benign	
IGSF3		inserm.fr	GRCh37	1	117156418	117156418	+	synonymous_variant	Silent	SNP	G	A	A			CHC902T																					ENST00000369483.1:c.801C>T	p.Ser267=	p.S267=	ENST00000369483	NM_001542.3	267	tcC/tcT	0	not done		synonymous	
CFTR		inserm.fr	GRCh37	7	117180295	117180295	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC059T									Valid												ENST00000003084.6:c.1011C>A	p.Phe337Leu	p.F337L	ENST00000003084	NM_000492.3	337	ttC/ttA	0	validated		probablydamaging	
FBXO44		inserm.fr	GRCh37	1	11718452	11718452	+	splice_donor_variant	Splice_Site	SNP	T	A	A			CHC2215T																					ENST00000376770.1:c.392+2T>A		p.X131_splice	ENST00000376770	NM_001014765.1			0	validated		damaging	
RNFT2		inserm.fr	GRCh37	12	117187866	117187866	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM337T																					ENST00000257575.4:c.304G>A	p.Gly102Ser	p.G102S	ENST00000257575		102	Ggc/Agc	0	validated		benign	
CFTR		inserm.fr	GRCh37	7	117199553	117199553	+	synonymous_variant	Silent	SNP	G	A	A			CHC1747T																					ENST00000003084.6:c.1428G>A	p.Glu476=	p.E476=	ENST00000003084	NM_000492.3	476	gaG/gaA	0	not done		synonymous	
ATRNL1		inserm.fr	GRCh37	10	117221504	117221504	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1743T																					ENST00000355044.3:c.3376C>A	p.Arg1126Ser	p.R1126S	ENST00000355044	NM_207303.2	1126	Cgc/Agc	0	not done		benign	
CEP164		inserm.fr	GRCh37	11	117241822	117241822	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000278935.3:c.792G>A	p.Glu264=	p.E264=	ENST00000278935	NM_014956.4	264	gaG/gaA	0	not done		synonymous	
CEP164		inserm.fr	GRCh37	11	117242098	117242098	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000278935.3:c.1068G>A	p.Glu356=	p.E356=	ENST00000278935	NM_014956.4	356	gaG/gaA	0	not done		synonymous	
DNAH9		inserm.fr	GRCh37	17	11726297	11726297	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC121T									Valid												ENST00000262442.4:c.9192C>A	p.Cys3064Ter	p.C3064*	ENST00000262442	NM_001372.3	3064	tgC/tgA	0	validated		damaging	
DFNB31		inserm.fr	GRCh37	9	117266498	117266498	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1052T									Valid												ENST00000362057.3:c.584C>T	p.Ser195Phe	p.S195F	ENST00000362057	NM_001173425.1	195	tCc/tTc	0	validated		probablydamaging	
ZNF627		inserm.fr	GRCh37	19	11728508	11728508	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000361113.5:c.1190G>A	p.Gly397Glu	p.G397E	ENST00000361113	NM_145295.3	397	gGg/gAg	0	not done		probablydamaging	
CD2		inserm.fr	GRCh37	1	117297544	117297544	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			BCM321T																					ENST00000369478.3:c.353T>A	p.Leu118Ter	p.L118*	ENST00000369478	NM_001767.3	118	tTg/tAg	0	validated		damaging	
GREB1		inserm.fr	GRCh37	2	11733020	11733020	+	synonymous_variant	Silent	SNP	C	A	A			CHC961T																					ENST00000381486.2:c.1464C>A	p.Pro488=	p.P488=	ENST00000381486	NM_014668.3	488	ccC/ccA	0	validated		synonymous	
DSCAML1		inserm.fr	GRCh37	11	117335891	117335891	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1754T																					ENST00000321322.6:c.3212A>T	p.Lys1071Met	p.K1071M	ENST00000321322	NM_020693.2	1071	aAg/aTg	0	validated		benign	
FBXW8		inserm.fr	GRCh37	12	117383169	117383169	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000309909.5:c.424G>A	p.Val142Met	p.V142M	ENST00000309909		142	Gtg/Atg	0	not done		probablydamaging	
DSCAML1		inserm.fr	GRCh37	11	117389254	117389254	+	synonymous_variant	Silent	SNP	G	A	A			CHC1600T																					ENST00000321322.6:c.1617C>T	p.Asp539=	p.D539=	ENST00000321322	NM_020693.2	539	gaC/gaT	0	not done		synonymous	
FBXW8		inserm.fr	GRCh37	12	117426624	117426624	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM321T																					ENST00000309909.5:c.1189C>A	p.Gln397Lys	p.Q397K	ENST00000309909		397	Caa/Aaa	0	validated		probablydamaging	
CTTNBP2		inserm.fr	GRCh37	7	117432743	117432743	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC889T																					ENST00000160373.3:c.507G>T	p.Gln169His	p.Q169H	ENST00000160373	NM_033427.2	169	caG/caT	0	not done		benign	
TESC		inserm.fr	GRCh37	12	117476980	117476980	+	synonymous_variant	Silent	SNP	G	A	A			CHC1207T																					ENST00000335209.7:c.603C>T	p.His201=	p.H201=	ENST00000335209		201	caC/caT	0	not done		synonymous	
PTGFRN		inserm.fr	GRCh37	1	117487474	117487474	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000393203.2:c.592G>A	p.Ala198Thr	p.A198T	ENST00000393203	NM_020440.2	198	Gcc/Acc	0	not done		benign	
GREB1		inserm.fr	GRCh37	2	11751124	11751124	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000381486.2:c.2977G>A	p.Val993Met	p.V993M	ENST00000381486	NM_014668.3	993	Gtg/Atg	0	not done		possiblydamaging	
PTGFRN		inserm.fr	GRCh37	1	117527562	117527562	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000393203.2:c.2428G>A	p.Ala810Thr	p.A810T	ENST00000393203	NM_020440.2	810	Gca/Aca	0	not done		benign	
WDR44		inserm.fr	GRCh37	X	117566794	117566794	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000254029.3:c.1788G>A	p.Arg596=	p.R596=	ENST00000254029	NM_019045.4	596	cgG/cgA	0	not done		synonymous	
DNAH9		inserm.fr	GRCh37	17	11757470	11757470	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262442.4:c.9658G>A	p.Gly3220Ser	p.G3220S	ENST00000262442	NM_001372.3	3220	Ggc/Agc	0	not done		benign	
DNAH9		inserm.fr	GRCh37	17	11757695	11757695	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262442.4:c.9883G>A	p.Asp3295Asn	p.D3295N	ENST00000262442	NM_001372.3	3295	Gac/Aac	0	not done		possiblydamaging	
ROS1		inserm.fr	GRCh37	6	117609928	117609928	+	synonymous_variant	Silent	SNP	G	A	A			CHC429T																					ENST00000368508.3:c.6771C>T	p.Asp2257=	p.D2257=	ENST00000368508	NM_002944.2	2257	gaC/gaT	0	validated		synonymous	
ROS1		inserm.fr	GRCh37	6	117687246	117687246	+	synonymous_variant	Silent	SNP	G	A	A			CHC429T																					ENST00000368508.3:c.2805C>T	p.Pro935=	p.P935=	ENST00000368508	NM_002944.2	935	ccC/ccT	0	validated		synonymous	
NOS1		inserm.fr	GRCh37	12	117701763	117701763	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1731T																					ENST00000338101.4:c.2153C>T	p.Thr718Met	p.T718M	ENST00000338101		718	aCg/aTg	0	not done		probablydamaging	
ROS1		inserm.fr	GRCh37	6	117715859	117715859	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000368508.3:c.899C>T	p.Ser300Phe	p.S300F	ENST00000368508	NM_002944.2	300	tCt/tTt	0	not done		probablydamaging	
ROS1		inserm.fr	GRCh37	6	117715881	117715881	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1201T																					ENST00000368508.3:c.877C>T	p.Leu293Phe	p.L293F	ENST00000368508	NM_002944.2	293	Ctc/Ttc	0	not done		probablydamaging	
TMPRSS13		inserm.fr	GRCh37	11	117774685	117774685	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1743T																					ENST00000524993.1:c.1513G>T	p.Asp505Tyr	p.D505Y	ENST00000524993	NM_001077263.2	505	Gac/Tac	0	not done		probablydamaging	
DNAH9		inserm.fr	GRCh37	17	11778338	11778338	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC879T																					ENST00000262442.4:c.10315C>A	p.Gln3439Lys	p.Q3439K	ENST00000262442	NM_001372.3	3439	Cag/Aag	0	not done		benign	
TNC		inserm.fr	GRCh37	9	117793886	117793886	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000350763.4:c.5866C>T	p.Gln1956Ter	p.Q1956*	ENST00000350763	NM_002160.3	1956	Cag/Tag	0	not done		damaging	
GREB1		inserm.fr	GRCh37	2	11780448	11780448	+	synonymous_variant	Silent	SNP	G	A	A			BCM397T																					ENST00000381486.2:c.5718G>A	p.Arg1906=	p.R1906=	ENST00000381486	NM_014668.3	1906	cgG/cgA	0	validated		synonymous	
TNC		inserm.fr	GRCh37	9	117827114	117827114	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000350763.4:c.3299C>T	p.Ala1100Val	p.A1100V	ENST00000350763	NM_002160.3	1100	gCc/gTc	0	not done		probablydamaging	
TNC		inserm.fr	GRCh37	9	117836008	117836008	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC434T									Valid												ENST00000350763.4:c.3088C>T	p.Gln1030Ter	p.Q1030*	ENST00000350763	NM_002160.3	1030	Cag/Tag	0	validated		damaging	
TNC		inserm.fr	GRCh37	9	117840490	117840490	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000350763.4:c.2406C>T	p.Arg802=	p.R802=	ENST00000350763	NM_002160.3	802	cgC/cgT	0	not done		damaging	
TXNDC11		inserm.fr	GRCh37	16	11785540	11785540	+	synonymous_variant	Silent	SNP	G	A	A			CHC306T																					ENST00000283033.5:c.1506C>T	p.Phe502=	p.F502=	ENST00000283033	NM_015914.5	502	ttC/ttT	0	validated		synonymous	
ANKRD7		inserm.fr	GRCh37	7	117876902	117876902	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC205T																					ENST00000265224.4:c.634C>A	p.Gln212Lys	p.Q212K	ENST00000265224	NM_019644.3	212	Cag/Aag	0	validated		benign	
ZCCHC12		inserm.fr	GRCh37	X	117959573	117959573	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000310164.2:c.366G>A	p.Gly122=	p.G122=	ENST00000310164	NM_173798.2	122	ggG/ggA	0	not done		synonymous	
NTSR2		inserm.fr	GRCh37	2	11798614	11798614	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000306928.5:c.1224C>T	p.Thr408=	p.T408=	ENST00000306928	NM_012344.3	408	acC/acT	0	not done		synonymous	
TRAM1L1		inserm.fr	GRCh37	4	118005456	118005456	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1603T																					ENST00000310754.4:c.1094A>T	p.Lys365Ile	p.K365I	ENST00000310754	NM_152402.2	365	aAa/aTa	0	not done		probablydamaging	
SCN2B		inserm.fr	GRCh37	11	118037656	118037656	+	synonymous_variant	Silent	SNP	G	A	A			CHC1602T																					ENST00000278947.5:c.594C>T	p.Thr198=	p.T198=	ENST00000278947	NM_004588.4	198	acC/acT	0	not done		synonymous	
SCN2B		inserm.fr	GRCh37	11	118038846	118038846	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000278947.5:c.402C>T	p.Asp134=	p.D134=	ENST00000278947	NM_004588.4	134	gaC/gaT	0	not done		synonymous	
MPZL3		inserm.fr	GRCh37	11	118106139	118106139	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	A	A			CHC1137T																					ENST00000278949.4:c.617A>T	p.Asp206Val	p.D206V	ENST00000278949		206	gAc/gTc	0	not done		possiblydamaging	
LONRF3		inserm.fr	GRCh37	X	118109365	118109365	+	synonymous_variant	Silent	SNP	C	A	A			BCM501T																					ENST00000371628.3:c.622C>A	p.Arg208=	p.R208=	ENST00000371628	NM_001031855.1	208	Cgg/Agg	0	validated		synonymous	
MPZL3		inserm.fr	GRCh37	11	118111028	118111028	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1545T																					ENST00000278949.4:c.138A>T	p.Glu46Asp	p.E46D	ENST00000278949		46	gaA/gaT	0	not done		probablydamaging	
SLC30A8		inserm.fr	GRCh37	8	118165285	118165285	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC205T									Valid												ENST00000456015.2:c.374C>A	p.Ser125Ter	p.S125*	ENST00000456015	NM_173851.2	125	tCg/tAg	0	validated		damaging	
FAM46C		inserm.fr	GRCh37	1	118166342	118166342	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000369448.3:c.852G>A	p.Gln284=	p.Q284=	ENST00000369448	NM_017709.3	284	caG/caA	0	not done		synonymous	
SLC30A8		inserm.fr	GRCh37	8	118184826	118184826	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2052T																					ENST00000456015.2:c.1016G>A	p.Ser339Asn	p.S339N	ENST00000456015	NM_173851.2	339	aGc/aAc	0	not done		benign	
KIAA1210		inserm.fr	GRCh37	X	118222674	118222674	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000402510.2:c.2519C>T	p.Ala840Val	p.A840V	ENST00000402510	NM_020721.1	840	gCt/gTt	0	not done		possiblydamaging	
KIAA1210		inserm.fr	GRCh37	X	118238962	118238962	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000402510.2:c.1061C>T	p.Ala354Val	p.A354V	ENST00000402510	NM_020721.1	354	gCg/gTg	0	not done		benign	
UBE4A		inserm.fr	GRCh37	11	118267042	118267042	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC121T									Valid												ENST00000431736.2:c.3109C>A	p.Pro1037Thr	p.P1037T	ENST00000431736		1037	Ccc/Acc	0	validated		probablydamaging	
PNLIP		inserm.fr	GRCh37	10	118306878	118306878	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC923T																					ENST00000369221.2:c.119C>A	p.Pro40His	p.P40H	ENST00000369221	NM_000936.2	40	cCc/cAc	0	not done		probablydamaging	
KMT2A		inserm.fr	GRCh37	11	118307618	118307618	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000534358.1:c.391G>A	p.Ala131Thr	p.A131T	ENST00000534358	NM_005933.3	131	Gcc/Acc	0	not done		benign	
PNLIP		inserm.fr	GRCh37	10	118318708	118318708	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369221.2:c.973G>A	p.Gly325Ser	p.G325S	ENST00000369221	NM_000936.2	325	Ggt/Agt	0	not done		probablydamaging	
C1orf167		inserm.fr	GRCh37	1	11832185	11832185	+	synonymous_variant	Silent	SNP	G	A	A			CHC1148T																					ENST00000433342.1:c.1929G>A	p.Arg643=	p.R643=	ENST00000433342		643	agG/agA	0	not done		synonymous	
TUSC5		inserm.fr	GRCh37	17	1183430	1183430	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000333813.3:c.135G>A	p.Lys45=	p.K45=	ENST00000333813	NM_172367.2	45	aaG/aaA	0	not done		synonymous	
KMT2A		inserm.fr	GRCh37	11	118344737	118344737	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1747T																					ENST00000534358.1:c.2863G>A	p.Ala955Thr	p.A955T	ENST00000534358	NM_005933.3	955	Gct/Act	0	not done		possiblydamaging	
PNLIPRP1		inserm.fr	GRCh37	10	118357391	118357391	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2141T																					ENST00000528052.1:c.626T>A	p.Leu209His	p.L209H	ENST00000528052		209	cTt/cAt	0	not done		probablydamaging	
KMT2A		inserm.fr	GRCh37	11	118373951	118373951	+	synonymous_variant	Silent	SNP	T	A	A			CHC433T																					ENST00000534358.1:c.7344T>A	p.Ser2448=	p.S2448=	ENST00000534358	NM_005933.3	2448	tcT/tcA	0	validated		synonymous	
TMEM25		inserm.fr	GRCh37	11	118402923	118402923	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000313236.5:c.129G>A	p.Arg43=	p.R43=	ENST00000313236	NM_032780.3	43	cgG/cgA	0	not done		synonymous	
PNLIPRP2		inserm.fr	GRCh37	10	118404592	118404592	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000537242.1:c.1391C>A	p.Ser464Tyr	p.S464Y	ENST00000537242	NM_005396.4	464	tCt/tAt	0	not done		probablydamaging	
HSPA12A		inserm.fr	GRCh37	10	118435996	118435996	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1744T																					ENST00000369209.3:c.1304G>T	p.Trp435Leu	p.W435L	ENST00000369209	NM_025015.2	435	tGg/tTg	0	not done		probablydamaging	
LOC100506310		inserm.fr	GRCh37	1	11844442	11844442	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2115T																					ENST00000433342.1:c.3289G>A	p.Asp1097Asn	p.D1097N	ENST00000433342		1097	Gat/Aat	0	not done			
WSB2		inserm.fr	GRCh37	12	118480740	118480740	+	synonymous_variant	Silent	SNP	G	A	A			CHC155T																					ENST00000315436.3:c.465C>T	p.Val155=	p.V155=	ENST00000315436	NM_018639.4	155	gtC/gtT	0	validated		synonymous	
PHLDB1		inserm.fr	GRCh37	11	118498885	118498885	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2321T																					ENST00000361417.2:c.1346G>A	p.Arg449Gln	p.R449Q	ENST00000361417	NM_015157.3	449	cGg/cAg	0	validated		probablydamaging	
PHLDB1		inserm.fr	GRCh37	11	118499272	118499272	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000361417.2:c.1733G>A	p.Ser578Asn	p.S578N	ENST00000361417	NM_015157.3	578	aGc/aAc	0	not done		probablydamaging	
PHLDB1		inserm.fr	GRCh37	11	118502716	118502716	+	synonymous_variant	Silent	SNP	G	A	A			CHC1598T																					ENST00000361417.2:c.2187G>A	p.Gln729=	p.Q729=	ENST00000361417	NM_015157.3	729	caG/caA	0	not done		synonymous	
VSIG10		inserm.fr	GRCh37	12	118517397	118517397	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2321T																					ENST00000359236.5:c.679G>T	p.Ala227Ser	p.A227S	ENST00000359236	NM_019086.5	227	Gct/Tct	0	validated		benign	
SPAG17		inserm.fr	GRCh37	1	118534146	118534146	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000336338.5:c.5367C>T	p.Tyr1789=	p.Y1789=	ENST00000336338	NM_206996.2	1789	taC/taT	0	not done		synonymous	
SLC25A43		inserm.fr	GRCh37	X	118540623	118540623	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000217909.7:c.476G>A	p.Gly159Glu	p.G159E	ENST00000217909	NM_145305.2	159	gGg/gAg	0	not done		probablydamaging	
SPAG17		inserm.fr	GRCh37	1	118566053	118566053	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2115T																					ENST00000336338.5:c.3943C>T	p.Pro1315Ser	p.P1315S	ENST00000336338	NM_206996.2	1315	Ccc/Tcc	0	not done		possiblydamaging	
SLC35F1		inserm.fr	GRCh37	6	118588318	118588318	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000360388.4:c.637+1G>A		p.X213_splice	ENST00000360388	NM_001029858.3			0	not done		damaging	
SPAG17		inserm.fr	GRCh37	1	118628616	118628616	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000336338.5:c.1691C>T	p.Pro564Leu	p.P564L	ENST00000336338	NM_206996.2	564	cCt/cTt	0	validated		probablydamaging	
IGSF11		inserm.fr	GRCh37	3	118649041	118649041	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC307T																					ENST00000393775.2:c.134C>T	p.Thr45Ile	p.T45I	ENST00000393775	NM_001015887.1	45	aCt/aTt	0	validated		possiblydamaging	
CXorf56		inserm.fr	GRCh37	X	118679465	118679465	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371594.4:c.245C>T	p.Pro82Leu	p.P82L	ENST00000371594	NM_022101.3	82	cCt/cTt	0	not done		benign	
TNFAIP8		inserm.fr	GRCh37	5	118728571	118728571	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000504771.2:c.92G>A	p.Gly31Asp	p.G31D	ENST00000504771	NM_014350.3	31	gGt/gAt	0	not done		probablydamaging	
IGSF11		inserm.fr	GRCh37	3	118753403	118753403	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000393775.2:c.27G>T	p.Ala9=	p.A9=	ENST00000393775	NM_001015887.1	9	gcG/gcT	0	not done		synonymous	
CXCR5		inserm.fr	GRCh37	11	118764674	118764674	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000292174.4:c.421G>A	p.Ala141Thr	p.A141T	ENST00000292174	NM_001716.4	141	Gcc/Acc	0	not done		probablydamaging	
SEPT6		inserm.fr	GRCh37	X	118786893	118786893	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2052T																					ENST00000343984.5:c.452G>T	p.Cys151Phe	p.C151F	ENST00000343984	NM_015129.5	151	tGc/tTc	0	not done		probablydamaging	
ZNF18		inserm.fr	GRCh37	17	11882048	11882048	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1600T									Valid												ENST00000322748.3:c.876G>T	p.Glu292Asp	p.E292D	ENST00000322748	NM_144680.2	292	gaG/gaT	0	validated		probablydamaging	
ZNF441		inserm.fr	GRCh37	19	11892300	11892300	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM399T									Valid												ENST00000357901.4:c.1661C>A	p.Thr554Asn	p.T554N	ENST00000357901	NM_152355.2	554	aCt/aAt	0	validated		probablydamaging	
HYOU1		inserm.fr	GRCh37	11	118925335	118925335	+	synonymous_variant	Silent	SNP	G	A	A			CHC306T																					ENST00000404233.3:c.549C>T	p.Ala183=	p.A183=	ENST00000404233	NM_001130991.1	183	gcC/gcT	0	validated		synonymous	
HMBS		inserm.fr	GRCh37	11	118963522	118963522	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC1598T																					ENST00000278715.3:c.825+1G>A		p.X275_splice	ENST00000278715	NM_000190.3			0	not done		possiblydamaging	
NDST3		inserm.fr	GRCh37	4	118975912	118975912	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2362T																					ENST00000296499.5:c.847C>A	p.Leu283Ile	p.L283I	ENST00000296499	NM_004784.2	283	Ctc/Atc	0	validated		probablydamaging	
UPF3B		inserm.fr	GRCh37	X	118986867	118986867	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000276201.2:c.25C>T	p.Pro9Ser	p.P9S	ENST00000276201	NM_080632.2	9	Cct/Tct	0	not done		probablydamaging	
PAPPA		inserm.fr	GRCh37	9	118997590	118997590	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1720T																					ENST00000328252.3:c.2406T>A	p.Phe802Leu	p.F802L	ENST00000328252	NM_002581.3	802	ttT/ttA	0	not done		benign	
HINFP		inserm.fr	GRCh37	11	119005149	119005149	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000350777.2:c.1495G>A	p.Gly499Arg	p.G499R	ENST00000350777	NM_198971.2	499	Ggg/Agg	0	not done		benign	
PDZD3		inserm.fr	GRCh37	11	119057995	119057995	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1714T																					ENST00000355547.5:c.347G>A	p.Arg116Gln	p.R116Q	ENST00000355547	NM_001168468.1	116	cGg/cAg	0	not done		possiblydamaging	
CCDC153		inserm.fr	GRCh37	11	119061463	119061463	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T																					ENST00000503566.2:c.436G>T	p.Ala146Ser	p.A146S	ENST00000503566		146	Gcc/Tcc	0	validated		benign	
ARHGAP31		inserm.fr	GRCh37	3	119121196	119121196	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC902T																					ENST00000264245.4:c.1597G>A	p.Gly533Arg	p.G533R	ENST00000264245	NM_020754.2	533	Gga/Aga	0	not done		probablydamaging	
EXT1		inserm.fr	GRCh37	8	119123105	119123105	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1753T																					ENST00000378204.2:c.181G>T	p.Ala61Ser	p.A61S	ENST00000378204	NM_000127.2	61	Gct/Tct	0	not done		benign	
ARHGAP31		inserm.fr	GRCh37	3	119128367	119128367	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1749T																					ENST00000264245.4:c.1670T>A	p.Leu557His	p.L557H	ENST00000264245	NM_020754.2	557	cTt/cAt	0	not done		probablydamaging	
TMEM39A		inserm.fr	GRCh37	3	119171358	119171358	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM375T									Valid												ENST00000319172.5:c.356A>T	p.Tyr119Phe	p.Y119F	ENST00000319172	NM_018266.2	119	tAt/tTt	0	validated		possiblydamaging	
TMEM39A		inserm.fr	GRCh37	3	119176897	119176897	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2098T																					ENST00000319172.5:c.304C>T	p.Pro102Ser	p.P102S	ENST00000319172	NM_018266.2	102	Cct/Tct	0	not done		probablydamaging	
NPPB		inserm.fr	GRCh37	1	11918810	11918810	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000376468.3:c.81C>T	p.His27=	p.H27=	ENST00000376468	NM_002521.2	27	caC/caT	0	not done		synonymous	
POGLUT1		inserm.fr	GRCh37	3	119190191	119190191	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000295588.4:c.212G>A	p.Gly71Asp	p.G71D	ENST00000295588	NM_152305.2	71	gGc/gAc	0	not done		probablydamaging	
MFRP		inserm.fr	GRCh37	11	119216267	119216267	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000530681.1:c.504C>T	p.Thr168=	p.T168=	ENST00000530681		168	acC/acT	0	not done		synonymous	
PRSS12		inserm.fr	GRCh37	4	119273719	119273719	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000296498.3:c.157C>T	p.Pro53Ser	p.P53S	ENST00000296498	NM_003619.3	53	Ccc/Tcc	0	not done		benign	
ADPRH		inserm.fr	GRCh37	3	119306355	119306355	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000478399.1:c.704G>A	p.Gly235Glu	p.G235E	ENST00000478399		235	gGg/gAg	0	not done		probablydamaging	
RSL1D1		inserm.fr	GRCh37	16	11931688	11931688	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC896T																					ENST00000571133.1:c.1429C>T	p.Pro477Ser	p.P477S	ENST00000571133	NM_015659.2	477	Ccc/Tcc	0	not done		possiblydamaging	
ASTN2		inserm.fr	GRCh37	9	119382655	119382655	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000361209.2:c.2987G>T	p.Cys996Phe	p.C996F	ENST00000361209	NM_014010.4	996	tGc/tTc	0	not done		probablydamaging	
C3orf15		inserm.fr	GRCh37	3	119425732	119425732	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC433T																					ENST00000273390.5:c.201G>A	p.Leu67=	p.L67=	ENST00000273390	NM_033364.3	67	ctG/ctA	0	validated		possiblydamaging	
SAMD12		inserm.fr	GRCh37	8	119452170	119452170	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM337T																					ENST00000314727.4:c.223G>T	p.Ala75Ser	p.A75S	ENST00000314727	NM_207506.2	75	Gct/Tct	0	validated		probablydamaging	
TBX15		inserm.fr	GRCh37	1	119474272	119474272	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1568T																					ENST00000207157.3:c.71G>T	p.Gly24Val	p.G24V	ENST00000207157	NM_152380.2	24	gGa/gTa	0	not done		probablydamaging	
TBX15		inserm.fr	GRCh37	1	119474273	119474273	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1568T																					ENST00000207157.3:c.70G>T	p.Gly24Ter	p.G24*	ENST00000207157	NM_152380.2	24	Gga/Tga	0	not done		damaging	
PVRL1		inserm.fr	GRCh37	11	119535684	119535684	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC2127T									Valid												ENST00000264025.3:c.1327G>T	p.Glu443Ter	p.E443*	ENST00000264025	NM_002855.4	443	Gag/Tag	0	validated		damaging	
PVRL1		inserm.fr	GRCh37	11	119535967	119535967	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000264025.3:c.1044C>T	p.Arg348=	p.R348=	ENST00000264025	NM_002855.4	348	cgC/cgT	0	validated		synonymous	
PVRL1		inserm.fr	GRCh37	11	119549167	119549167	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1743T																					ENST00000264025.3:c.388C>T	p.Pro130Ser	p.P130S	ENST00000264025	NM_002855.4	130	Cct/Tct	0	not done		probablydamaging	
SRRM4		inserm.fr	GRCh37	12	119552166	119552166	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC437T																					ENST00000267260.4:c.362G>A	p.Arg121Lys	p.R121K	ENST00000267260	NM_194286.3	121	aGg/aAg	0	not done		benign	
LAMP2		inserm.fr	GRCh37	X	119562383	119562383	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC796T																					ENST00000434600.2:c.1192A>T	p.Met398Leu	p.M398L	ENST00000434600	NM_001122606.1	398	Atg/Ttg	0	validated		benign	
LAMP2		inserm.fr	GRCh37	X	119562385	119562385	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC796T									Valid												ENST00000434600.2:c.1190A>T	p.Tyr397Phe	p.Y397F	ENST00000434600	NM_001122606.1	397	tAt/tTt	0	validated		probablydamaging	
SRRM4		inserm.fr	GRCh37	12	119583236	119583236	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000267260.4:c.822G>A	p.Pro274=	p.P274=	ENST00000267260	NM_194286.3	274	ccG/ccA	0	not done		synonymous	
SRRM4		inserm.fr	GRCh37	12	119588851	119588851	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC703T																					ENST00000267260.4:c.1106C>A	p.Ala369Asp	p.A369D	ENST00000267260	NM_194286.3	369	gCc/gAc	0	validated		benign	
MAN1A1		inserm.fr	GRCh37	6	119669965	119669965	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1743T																					ENST00000368468.3:c.266G>T	p.Gly89Val	p.G89V	ENST00000368468	NM_005907.3	89	gGg/gTg	0	not done		possiblydamaging	
CUL4B		inserm.fr	GRCh37	X	119694387	119694387	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000404115.3:c.161C>T	p.Ala54Val	p.A54V	ENST00000404115	NM_003588.3	54	gCc/gTc	0	not done		benign	
MARCO		inserm.fr	GRCh37	2	119750781	119750781	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1756T																					ENST00000327097.4:c.1334C>A	p.Thr445Lys	p.T445K	ENST00000327097	NM_006770.3	445	aCa/aAa	0	not done		probablydamaging	
ZNF439		inserm.fr	GRCh37	19	11979036	11979036	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1209T																					ENST00000304030.2:c.1152C>A	p.Cys384Ter	p.C384*	ENST00000304030	NM_152262.2	384	tgC/tgA	0	not done		damaging	
GPR156		inserm.fr	GRCh37	3	119885960	119885960	+	synonymous_variant	Silent	SNP	C	A	A			CHC1616T																					ENST00000464295.1:c.2364G>T	p.Gly788=	p.G788=	ENST00000464295		788	ggG/ggT	0	not done		synonymous	
CCDC60		inserm.fr	GRCh37	12	119926578	119926578	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2048T																					ENST00000327554.2:c.464G>A	p.Arg155His	p.R155H	ENST00000327554	NM_178499.3	155	cGc/cAc	0	not done		probablydamaging	
SYNPO2		inserm.fr	GRCh37	4	119952002	119952002	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000307142.4:c.2072G>A	p.Ser691Asn	p.S691N	ENST00000307142	NM_133477.2	691	aGc/aAc	0	not done		benign	
ASTN2		inserm.fr	GRCh37	9	119976739	119976739	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000361209.2:c.913G>T	p.Ala305Ser	p.A305S	ENST00000361209	NM_014010.4	305	Gcc/Tcc	0	not done		benign	
CT47B1		inserm.fr	GRCh37	X	120009094	120009094	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371311.3:c.431C>T	p.Ala144Val	p.A144V	ENST00000371311	NM_001145718.1	144	gCg/gTg	0	not done		possiblydamaging	
FAM204A		inserm.fr	GRCh37	10	120094908	120094908	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1742T																					ENST00000369183.4:c.353G>T	p.Ser118Ile	p.S118I	ENST00000369183	NM_022063.2	118	aGt/aTt	0	not done		probablydamaging	
CIT		inserm.fr	GRCh37	12	120139686	120139686	+	synonymous_variant	Silent	SNP	G	A	A			CHC1065T																					ENST00000392521.2:c.5382C>T	p.Tyr1794=	p.Y1794=	ENST00000392521	NM_001206999.1	1794	taC/taT	0	validated		synonymous	
USP53		inserm.fr	GRCh37	4	120181806	120181806	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1154T																					ENST00000450251.1:c.820G>A	p.Gly274Arg	p.G274R	ENST00000450251		274	Ggg/Agg	0	not done		probablydamaging	
GLUD2		inserm.fr	GRCh37	X	120181947	120181947	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000328078.1:c.409G>A	p.Ala137Thr	p.A137T	ENST00000328078	NM_012084.3	137	Gcc/Acc	0	not done		probablydamaging	
TMEM136		inserm.fr	GRCh37	11	120198221	120198221	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000314475.2:c.137G>A	p.Cys46Tyr	p.C46Y	ENST00000314475	NM_001198670.1	46	tGc/tAc	0	not done		possiblydamaging	
CIT		inserm.fr	GRCh37	12	120241190	120241190	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC902T																					ENST00000392521.2:c.1115C>T	p.Pro372Leu	p.P372L	ENST00000392521	NM_001206999.1	372	cCt/cTt	0	not done		benign	
CIT		inserm.fr	GRCh37	12	120271898	120271898	+	synonymous_variant	Silent	SNP	G	A	A			CHC1592T																					ENST00000392521.2:c.651C>T	p.Tyr217=	p.Y217=	ENST00000392521	NM_001206999.1	217	taC/taT	0	not done		synonymous	
ARHGEF12		inserm.fr	GRCh37	11	120292551	120292551	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1079T																					ENST00000397843.2:c.338G>A	p.Arg113Gln	p.R113Q	ENST00000397843	NM_015313.2	113	cGa/cAa	0	not done		probablydamaging	
ARHGEF12		inserm.fr	GRCh37	11	120328856	120328856	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM695T																					ENST00000397843.2:c.2293G>A	p.Asp765Asn	p.D765N	ENST00000397843	NM_015313.2	765	Gat/Aat	0	validated		probablydamaging	
NBPF7P		inserm.fr	GRCh37	1	120384011	120384011	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000401014.1:n.1172C>T		p.X391_splice	ENST00000401014				0	not done		possiblydamaging	
NOV		inserm.fr	GRCh37	8	120435284	120435284	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000259526.3:c.986G>A	p.Gly329Glu	p.G329E	ENST00000259526	NM_002514.3	329	gGg/gAg	0	not done		possiblydamaging	
TMEM177		inserm.fr	GRCh37	2	120438738	120438738	+	synonymous_variant	Silent	SNP	G	A	A			CHC197T																					ENST00000424086.1:c.309G>A	p.Val103=	p.V103=	ENST00000424086	NM_001105198.1	103	gtG/gtA	0	validated		synonymous	
TLR4		inserm.fr	GRCh37	9	120475612	120475612	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000355622.6:c.1206G>A	p.Lys402=	p.K402=	ENST00000355622	NM_138557.2	402	aaG/aaA	0	not done		synonymous	
PDE5A		inserm.fr	GRCh37	4	120528409	120528409	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000354960.3:c.196C>T	p.Pro66Ser	p.P66S	ENST00000354960	NM_001083.3	66	Cct/Tct	0	not done		benign	
GCN1L1		inserm.fr	GRCh37	12	120592800	120592800	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM265T																					ENST00000300648.6:c.3675A>T	p.Glu1225Asp	p.E1225D	ENST00000300648	NM_006836.1	1225	gaA/gaT	0	validated		benign	
GCN1L1		inserm.fr	GRCh37	12	120602157	120602157	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1763T																					ENST00000300648.6:c.1831G>T	p.Val611Phe	p.V611F	ENST00000300648	NM_006836.1	611	Gtc/Ttc	0	not done		benign	
GCN1L1		inserm.fr	GRCh37	12	120612988	120612988	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC923T																					ENST00000300648.6:c.1070C>T	p.Ala357Val	p.A357V	ENST00000300648	NM_006836.1	357	gCc/gTc	0	not done		benign	
GRIK4		inserm.fr	GRCh37	11	120673445	120673445	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000527524.2:c.126G>A	p.Arg42=	p.R42=	ENST00000527524	NM_001282470.1	42	cgG/cgA	0	not done		synonymous	
CTBP1		inserm.fr	GRCh37	4	1207341	1207341	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000290921.6:c.946G>T	p.Ala316Ser	p.A316S	ENST00000290921	NM_001328.2	316	Gct/Tct	0	not done		benign	
GRIK4		inserm.fr	GRCh37	11	120744894	120744894	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000527524.2:c.1026G>A	p.Gln342=	p.Q342=	ENST00000527524	NM_001282470.1	342	caG/caA	0	not done		synonymous	
STXBP5L		inserm.fr	GRCh37	3	120760560	120760560	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000273666.6:c.301G>A	p.Gly101Ser	p.G101S	ENST00000273666	NM_014980.2	101	Ggt/Agt	0	not done		probablydamaging	
CPED1		inserm.fr	GRCh37	7	120781062	120781062	+	synonymous_variant	Silent	SNP	G	A	A			CHC703T																					ENST00000310396.5:c.1881G>A	p.Gly627=	p.G627=	ENST00000310396	NM_024913.4	627	ggG/ggA	0	not done		synonymous	
EIF3A		inserm.fr	GRCh37	10	120832559	120832559	+	synonymous_variant	Silent	SNP	G	A	A			CHC1591T																					ENST00000369144.3:c.384C>T	p.Leu128=	p.L128=	ENST00000369144	NM_003750.2	128	ctC/ctT	0	not done		synonymous	
GRIK4		inserm.fr	GRCh37	11	120833250	120833250	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2321T																					ENST00000527524.2:c.2126G>A	p.Gly709Glu	p.G709E	ENST00000527524	NM_001282470.1	709	gGa/gAa	0	validated		probablydamaging	
SRSF9		inserm.fr	GRCh37	12	120907291	120907291	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC097T																					ENST00000229390.3:c.122G>T	p.Arg41Leu	p.R41L	ENST00000229390	NM_003769.2	41	cGc/cTc	0	validated		benign	
ANKRD62		inserm.fr	GRCh37	18	12095536	12095536	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1751T																					ENST00000587848.2:c.434C>A	p.Ala145Asp	p.A145D	ENST00000587848		145	gCc/gAc	0	not done			
GRK5		inserm.fr	GRCh37	10	120967451	120967451	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC961T																					ENST00000392870.2:c.22G>A	p.Ala8Thr	p.A8T	ENST00000392870	NM_005308.2	8	Gcc/Acc	0	validated		probablydamaging	
TECTA		inserm.fr	GRCh37	11	120980087	120980087	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000392793.1:c.366G>A	p.Leu122=	p.L122=	ENST00000392793		122	ttG/ttA	0	not done		synonymous	
TECTA		inserm.fr	GRCh37	11	120983877	120983877	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000392793.1:c.583G>A	p.Gly195Ser	p.G195S	ENST00000392793		195	Ggc/Agc	0	not done		possiblydamaging	
TECTA		inserm.fr	GRCh37	11	121000390	121000390	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000392793.1:c.2411G>A	p.Gly804Glu	p.G804E	ENST00000392793		804	gGg/gAg	0	not done		benign	
TECTA		inserm.fr	GRCh37	11	121008568	121008568	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000392793.1:c.3380G>A	p.Cys1127Tyr	p.C1127Y	ENST00000392793		1127	tGc/tAc	0	not done		probablydamaging	
TECTA		inserm.fr	GRCh37	11	121028745	121028745	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000392793.1:c.4501G>A	p.Ala1501Thr	p.A1501T	ENST00000392793		1501	Gcc/Acc	0	not done		probablydamaging	
MLEC		inserm.fr	GRCh37	12	121125285	121125285	+	synonymous_variant	Silent	SNP	G	A	A			CHC1180T																					ENST00000228506.3:c.186G>A	p.Val62=	p.V62=	ENST00000228506	NM_014730.2	62	gtG/gtA	0	validated		synonymous	
COL14A1		inserm.fr	GRCh37	8	121222126	121222126	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000297848.3:c.1453G>A	p.Gly485Arg	p.G485R	ENST00000297848	NM_021110.2	485	Ggg/Agg	0	not done		probablydamaging	
RGS10		inserm.fr	GRCh37	10	121259739	121259739	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000369103.2:c.432C>T	p.Ser144=	p.S144=	ENST00000369103	NM_001005339.1	144	agC/agT	0	not done		synonymous	
RGS10		inserm.fr	GRCh37	10	121286902	121286902	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000369103.2:c.84C>T	p.Ser28=	p.S28=	ENST00000369103	NM_001005339.1	28	agC/agT	0	not done		synonymous	
SRFBP1		inserm.fr	GRCh37	5	121355892	121355892	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC059T																					ENST00000339397.4:c.462T>A	p.Asn154Lys	p.N154K	ENST00000339397	NM_152546.2	154	aaT/aaA	0	validated		benign	
LOX		inserm.fr	GRCh37	5	121409811	121409811	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000231004.4:c.932C>T	p.Thr311Ile	p.T311I	ENST00000231004	NM_002317.5	311	aCc/aTc	0	not done		possiblydamaging	
SORL1		inserm.fr	GRCh37	11	121416090	121416090	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000260197.7:c.2003G>A	p.Arg668Lys	p.R668K	ENST00000260197	NM_003105.5	668	aGg/aAg	0	not done		probablydamaging	
HNF1A		inserm.fr	GRCh37	12	121431482	121431482	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC902T																					ENST00000257555.6:c.686G>A	p.Arg229Gln	p.R229Q	ENST00000257555		229	cGa/cAa	0	not done		probablydamaging	
GOLGB1		inserm.fr	GRCh37	3	121437313	121437313	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000393667.3:c.807C>T	p.His269=	p.H269=	ENST00000393667	NM_001256486.1	269	caC/caT	0	validated		synonymous	
SORL1		inserm.fr	GRCh37	11	121466351	121466351	+	synonymous_variant	Silent	SNP	C	A	A			BCM703T																					ENST00000260197.7:c.4389C>A	p.Ser1463=	p.S1463=	ENST00000260197	NM_003105.5	1463	tcC/tcA	0	validated		synonymous	
SORL1		inserm.fr	GRCh37	11	121466369	121466369	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000260197.7:c.4407G>A	p.Gly1469=	p.G1469=	ENST00000260197	NM_003105.5	1469	ggG/ggA	0	not done		synonymous	
MTBP		inserm.fr	GRCh37	8	121500410	121500410	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM423T									Valid												ENST00000305949.1:c.1177G>A	p.Glu393Lys	p.E393K	ENST00000305949	NM_022045.4	393	Gaa/Aaa	0	validated		possiblydamaging	
IQCB1		inserm.fr	GRCh37	3	121509013	121509013	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC799T																					ENST00000310864.6:c.1036G>T	p.Glu346Ter	p.E346*	ENST00000310864	NM_001023570.2	346	Gag/Tag	0	not done		damaging	
TNFRSF8		inserm.fr	GRCh37	1	12157216	12157216	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000263932.2:c.210G>A	p.Glu70=	p.E70=	ENST00000263932	NM_001243.3	70	gaG/gaA	0	not done		synonymous	
SLC15A2		inserm.fr	GRCh37	3	121615295	121615295	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000489711.1:c.148G>A	p.Val50Met	p.V50M	ENST00000489711	NM_021082.3	50	Gtg/Atg	0	not done		probablydamaging	
PTPRZ1		inserm.fr	GRCh37	7	121624110	121624110	+	synonymous_variant	Silent	SNP	G	A	A			BCM399T																					ENST00000393386.2:c.867G>A	p.Gln289=	p.Q289=	ENST00000393386	NM_001206838.1	289	caG/caA	0	validated		synonymous	
PTPRZ1		inserm.fr	GRCh37	7	121652532	121652532	+	synonymous_variant	Silent	SNP	T	A	A			CHC1028T																					ENST00000393386.2:c.3432T>A	p.Leu1144=	p.L1144=	ENST00000393386	NM_001206838.1	1144	ctT/ctA	0	not done		synonymous	
SEC23IP		inserm.fr	GRCh37	10	121658281	121658281	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369075.3:c.506G>A	p.Gly169Glu	p.G169E	ENST00000369075	NM_007190.3	169	gGg/gAg	0	not done		possiblydamaging	
SEC23IP		inserm.fr	GRCh37	10	121677544	121677544	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369075.3:c.1741G>A	p.Gly581Ser	p.G581S	ENST00000369075	NM_007190.3	581	Ggt/Agt	0	not done		probablydamaging	
SEC23IP		inserm.fr	GRCh37	10	121678982	121678982	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000369075.3:c.1899G>A	p.Leu633=	p.L633=	ENST00000369075	NM_007190.3	633	ttG/ttA	0	not done		synonymous	
CAMKK2		inserm.fr	GRCh37	12	121687783	121687783	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC801T																					ENST00000324774.5:c.1216G>T	p.Ala406Ser	p.A406S	ENST00000324774	NM_006549.3	406	Gcc/Tcc	0	not done		benign	
CAMKK2		inserm.fr	GRCh37	12	121701718	121701718	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC429T									Valid												ENST00000324774.5:c.650G>T	p.Arg217Leu	p.R217L	ENST00000324774	NM_006549.3	217	cGg/cTg	0	validated		possiblydamaging	
GLI2		inserm.fr	GRCh37	2	121708902	121708902	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC912T																					ENST00000452319.1:c.338C>A	p.Ser113Tyr	p.S113Y	ENST00000452319		113	tCc/tAc	0	validated		probablydamaging	
GLI2		inserm.fr	GRCh37	2	121732641	121732641	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000452319.1:c.1324G>A	p.Glu442Lys	p.E442K	ENST00000452319		442	Gaa/Aaa	0	not done		benign	
GLI2		inserm.fr	GRCh37	2	121743958	121743958	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000452319.1:c.2061G>A	p.Gly687=	p.G687=	ENST00000452319		687	ggG/ggA	0	not done		synonymous	
GLI2		inserm.fr	GRCh37	2	121747389	121747389	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC917T																					ENST00000452319.1:c.3899G>A	p.Arg1300Lys	p.R1300K	ENST00000452319		1300	aGg/aAg	0	validated		benign	
GLI2		inserm.fr	GRCh37	2	121747600	121747600	+	synonymous_variant	Silent	SNP	G	A	A			CHC2321T																					ENST00000452319.1:c.4110G>A	p.Gln1370=	p.Q1370=	ENST00000452319		1370	caG/caA	0	validated		synonymous	
ANAPC5		inserm.fr	GRCh37	12	121775094	121775094	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	A	A			CHC1738T																					ENST00000261819.3:c.759G>T	p.Ala253=	p.A253=	ENST00000261819	NM_016237.4	253	gcG/gcT	0	not done		damaging	
SNCAIP		inserm.fr	GRCh37	5	121780322	121780322	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC326T																					ENST00000261368.8:c.1487G>A	p.Ser496Asn	p.S496N	ENST00000261368	NM_005460.2	496	aGc/aAc	0	validated		probablydamaging	
SEC61A2		inserm.fr	GRCh37	10	12178109	12178109	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000298428.9:c.81G>A	p.Gln27=	p.Q27=	ENST00000298428	NM_018144.3	27	caG/caA	0	not done		synonymous	
SNTB1		inserm.fr	GRCh37	8	121823919	121823919	+	synonymous_variant	Silent	SNP	C	A	A			CHC434T																					ENST00000395601.3:c.165G>T	p.Ala55=	p.A55=	ENST00000395601	NM_021021.3	55	gcG/gcT	0	validated		synonymous	
SYN2		inserm.fr	GRCh37	3	12183432	12183432	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000432424.2:n.635G>A		*212*	ENST00000432424				0	not done		probablydamaging	
CD86		inserm.fr	GRCh37	3	121836909	121836909	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000330540.2:c.862G>A	p.Glu288Lys	p.E288K	ENST00000330540	NM_175862.4	288	Gag/Aag	0	not done		benign	
CD86		inserm.fr	GRCh37	3	121838294	121838294	+	synonymous_variant	Silent	SNP	C	A	A			CHC2112T																					ENST00000330540.2:c.903C>A	p.Ile301=	p.I301=	ENST00000330540	NM_175862.4	301	atC/atA	0	not done		synonymous	
DBC1		inserm.fr	GRCh37	9	121930153	121930153	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000265922.3:c.1495C>T	p.Leu499Phe	p.L499F	ENST00000265922	NM_014618.2	499	Ctc/Ttc	0	not done		probablydamaging	
FEZF1		inserm.fr	GRCh37	7	121944186	121944186	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000442488.2:c.306C>T	p.Ala102=	p.A102=	ENST00000442488	NM_001160264.1	102	gcC/gcT	0	not done		synonymous	
FEZF1		inserm.fr	GRCh37	7	121944372	121944372	+	synonymous_variant	Silent	SNP	G	A	A			CHC1714T																					ENST00000442488.2:c.120C>T	p.Thr40=	p.T40=	ENST00000442488	NM_001160264.1	40	acC/acT	0	not done		synonymous	
NDNF		inserm.fr	GRCh37	4	121957792	121957792	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000379692.4:c.1334C>T	p.Pro445Leu	p.P445L	ENST00000379692	NM_024574.3	445	cCc/cTc	0	not done		probablydamaging	
TNFRSF8		inserm.fr	GRCh37	1	12198428	12198428	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000263932.2:c.1478G>A	p.Gly493Asp	p.G493D	ENST00000263932	NM_001243.3	493	gGc/gAc	0	not done		benign	
CADPS2		inserm.fr	GRCh37	7	122000874	122000874	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC218T									Valid												ENST00000449022.2:c.3472G>T	p.Val1158Leu	p.V1158L	ENST00000449022	NM_017954.10	1158	Gtg/Ttg	0	validated		possiblydamaging	
CASR		inserm.fr	GRCh37	3	122003934	122003934	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2034T																					ENST00000498619.1:c.3163G>A	p.Glu1055Lys	p.E1055K	ENST00000498619	NM_001178065.1	1055	Gag/Aag	0	not done		benign	
TFCP2L1		inserm.fr	GRCh37	2	122006574	122006574	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000263707.5:c.381C>T	p.Asp127=	p.D127=	ENST00000263707	NM_014553.2	127	gaC/gaT	0	not done		synonymous	
ZNF788		inserm.fr	GRCh37	19	12204886	12204886	+	intron_variant	Intron	SNP	C	A	A			BCM321T																					ENST00000339302.4:c.-430+1601C>A		*144*	ENST00000339302				0	validated			
CLASP1		inserm.fr	GRCh37	2	122104691	122104691	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1137T																					ENST00000263710.4:c.4453G>T	p.Val1485Leu	p.V1485L	ENST00000263710	NM_015282.2	1485	Gtg/Ttg	0	validated		probablydamaging	
CLASP1		inserm.fr	GRCh37	2	122106091	122106091	+	synonymous_variant	Silent	SNP	C	A	A			CHC1754T																					ENST00000263710.4:c.4410G>T	p.Leu1470=	p.L1470=	ENST00000263710	NM_015282.2	1470	ctG/ctT	0	not done		synonymous	
CLASP1		inserm.fr	GRCh37	2	122106223	122106223	+	synonymous_variant	Silent	SNP	C	A	A			CHC1744T																					ENST00000263710.4:c.4278G>T	p.Val1426=	p.V1426=	ENST00000263710	NM_015282.2	1426	gtG/gtT	0	not done		synonymous	
MORN3		inserm.fr	GRCh37	12	122107246	122107246	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC1566T																					ENST00000355329.3:c.144C>T	p.His48=	p.H48=	ENST00000355329	NM_173855.4	48	caC/caT	0	not done		possiblydamaging	
SYN2		inserm.fr	GRCh37	3	12211402	12211402	+	non_coding_transcript_exon_variant	RNA	SNP	C	A	A			BCB109T									Valid												ENST00000432424.2:n.1476C>A		*492*	ENST00000432424				0	validated		probablydamaging	
FAM162A		inserm.fr	GRCh37	3	122126225	122126225	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC798T																					ENST00000477892.1:c.361G>A	p.Glu121Lys	p.E121K	ENST00000477892	NM_014367.3	121	Gag/Aag	0	validated		benign	
ERC1		inserm.fr	GRCh37	12	1221396	1221396	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000397203.2:c.1333G>A	p.Glu445Lys	p.E445K	ENST00000397203		445	Gag/Aag	0	not done		benign	
TMEM120B		inserm.fr	GRCh37	12	122186348	122186348	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000449592.2:c.305G>A	p.Gly102Glu	p.G102E	ENST00000449592	NM_001080825.2	102	gGg/gAg	0	not done		probablydamaging	
CADPS2		inserm.fr	GRCh37	7	122221238	122221238	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM783T																					ENST00000449022.2:c.1330G>T	p.Gly444Ter	p.G444*	ENST00000449022	NM_017954.10	444	Gga/Tga	0	validated		damaging	
CADPS2		inserm.fr	GRCh37	7	122221239	122221239	+	synonymous_variant	Silent	SNP	C	A	A			BCM783T																					ENST00000449022.2:c.1329G>T	p.Leu443=	p.L443=	ENST00000449022	NM_017954.10	443	ctG/ctT	0	validated		synonymous	
QRFPR		inserm.fr	GRCh37	4	122250531	122250531	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1186T																					ENST00000394427.2:c.1234C>T	p.Arg412Ter	p.R412*	ENST00000394427	NM_198179.2	412	Cga/Tga	0	not done		damaging	
SETD1B		inserm.fr	GRCh37	12	122257533	122257533	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000267197.5:c.3513G>A	p.Glu1171=	p.E1171=	ENST00000267197	NM_015048.1	1171	gaG/gaA	0	not done		synonymous	
SYN2		inserm.fr	GRCh37	3	12228918	12228918	+	downstream_gene_variant	3'Flank	SNP	T	A	A			CHC1601T																								ENST00000432424				0	not done		synonymous	
SCNN1D		inserm.fr	GRCh37	1	1222920	1222920	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000379116.5:c.1343G>A	p.Gly448Asp	p.G448D	ENST00000379116	NM_001130413.3	448	gGc/gAc	0	not done		probablydamaging	
SCNN1D		inserm.fr	GRCh37	1	1223114	1223114	+	synonymous_variant	Silent	SNP	C	A	A			CHC302T																					ENST00000379116.5:c.1461C>A	p.Ala487=	p.A487=	ENST00000379116	NM_001130413.3	487	gcC/gcA	0	validated		synonymous	
WDR66		inserm.fr	GRCh37	12	122361774	122361774	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC902T																					ENST00000288912.4:c.625G>A	p.Gly209Arg	p.G209R	ENST00000288912	NM_144668.5	209	Gga/Aga	0	not done		benign	
PARP14		inserm.fr	GRCh37	3	122437322	122437322	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1717T																					ENST00000474629.2:c.4324G>A	p.Ala1442Thr	p.A1442T	ENST00000474629	NM_017554.2	1442	Gct/Act	0	not done		benign	
ZNF20		inserm.fr	GRCh37	19	12244380	12244380	+	synonymous_variant	Silent	SNP	G	A	A			CHC1754T																					ENST00000334213.5:c.621C>T	p.Ala207=	p.A207=	ENST00000334213	NM_001203250.1	207	gcC/gcT	0	not done		synonymous	
BCL7A		inserm.fr	GRCh37	12	122492787	122492787	+	synonymous_variant	Silent	SNP	G	A	A			BCM567T																					ENST00000538010.1:c.516G>A	p.Pro172=	p.P172=	ENST00000538010	NM_020993.3	172	ccG/ccA	0	validated		synonymous	
BCL7A		inserm.fr	GRCh37	12	122492877	122492877	+	synonymous_variant	Silent	SNP	G	A	A			CHC510T																					ENST00000538010.1:c.606G>A	p.Glu202=	p.E202=	ENST00000538010	NM_020993.3	202	gaG/gaA	0	validated		synonymous	
MLXIP		inserm.fr	GRCh37	12	122616912	122616912	+	synonymous_variant	Silent	SNP	C	A	A			CHC433T																					ENST00000319080.7:c.1074C>A	p.Pro358=	p.P358=	ENST00000319080	NM_014938.4_dupl16	358	ccC/ccA	0	validated		synonymous	
HAS2		inserm.fr	GRCh37	8	122626396	122626396	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000303924.4:c.1612G>T	p.Gly538Cys	p.G538C	ENST00000303924	NM_005328.2	538	Ggc/Tgc	0	not done		probablydamaging	
TAS2R16		inserm.fr	GRCh37	7	122635266	122635266	+	synonymous_variant	Silent	SNP	G	A	A			BCM683T																					ENST00000249284.2:c.423C>T	p.Ile141=	p.I141=	ENST00000249284	NM_016945.2	141	atC/atT	0	validated		synonymous	
SEMA5B		inserm.fr	GRCh37	3	122640868	122640868	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000451055.2:c.1744C>T	p.Leu582=	p.L582=	ENST00000451055	NM_001256347.1	582	Ctg/Ttg	0	not done		synonymous	
UBASH3B		inserm.fr	GRCh37	11	122667655	122667655	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM567T																					ENST00000284273.5:c.1271G>A	p.Ser424Asn	p.S424N	ENST00000284273	NM_032873.4	424	aGt/aAt	0	validated		probablydamaging	
LRRC43		inserm.fr	GRCh37	12	122667698	122667698	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB157T																					ENST00000339777.4:c.7G>A	p.Ala3Thr	p.A3T	ENST00000339777	NM_152759.4	3	Gcg/Acg	0	validated		possiblydamaging	
EXOSC9		inserm.fr	GRCh37	4	122735069	122735069	+	synonymous_variant	Silent	SNP	G	A	A			CHC1602T																					ENST00000379663.3:c.1023G>A	p.Glu341=	p.E341=	ENST00000379663	NM_001034194.1	341	gaG/gaA	0	not done		synonymous	
BBS7		inserm.fr	GRCh37	4	122747144	122747144	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC961T																					ENST00000264499.4:c.2019G>T	p.Met673Ile	p.M673I	ENST00000264499	NM_176824.2	673	atG/atT	0	validated		possiblydamaging	
C11orf63		inserm.fr	GRCh37	11	122756765	122756765	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM739T																					ENST00000227349.2:c.208G>A	p.Glu70Lys	p.E70K	ENST00000227349	NM_024806.3	70	Gag/Aag	0	validated		possiblydamaging	
THOC2		inserm.fr	GRCh37	X	122759827	122759827	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1186T																					ENST00000245838.8:c.2993G>T	p.Arg998Leu	p.R998L	ENST00000245838	NM_001081550.1	998	cGt/cTt	0	validated		benign	
SERINC1		inserm.fr	GRCh37	6	122777633	122777633	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1192T																					ENST00000339697.4:c.364C>T	p.His122Tyr	p.H122Y	ENST00000339697	NM_020755.2	122	Cac/Tac	0	not done		probablydamaging	
THOC2		inserm.fr	GRCh37	X	122778480	122778480	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000245838.8:c.1607C>T	p.Pro536Leu	p.P536L	ENST00000245838	NM_001081550.1	536	cCa/cTa	0	not done		benign	
BBS7		inserm.fr	GRCh37	4	122780174	122780174	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000264499.4:c.501C>T	p.Cys167=	p.C167=	ENST00000264499	NM_176824.2	167	tgC/tgT	0	not done		synonymous	
CLIP1		inserm.fr	GRCh37	12	122825530	122825530	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1743T																					ENST00000540338.1:c.2221A>T	p.Lys741Ter	p.K741*	ENST00000540338		741	Aag/Tag	0	not done		damaging	
CLIP1		inserm.fr	GRCh37	12	122826163	122826163	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1611T																					ENST00000540338.1:c.1588C>T	p.Arg530Ter	p.R530*	ENST00000540338		530	Cga/Tga	0	not done		damaging	
CLIP1		inserm.fr	GRCh37	12	122837330	122837330	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC306T									Valid												ENST00000540338.1:c.1311G>T	p.Lys437Asn	p.K437N	ENST00000540338		437	aaG/aaT	0	validated			
CLIP1		inserm.fr	GRCh37	12	122862461	122862461	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000540338.1:c.132C>T	p.Ser44=	p.S44=	ENST00000540338		44	agC/agT	0	not done		synonymous	
ZCCHC8		inserm.fr	GRCh37	12	122958743	122958743	+	synonymous_variant	Silent	SNP	G	A	A			CHC1742T																					ENST00000336229.4:c.1425C>T	p.Leu475=	p.L475=	ENST00000336229	NM_017612.3	475	ctC/ctT	0	not done		synonymous	
ACAP3		inserm.fr	GRCh37	1	1230007	1230007	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1744T																					ENST00000354700.5:c.1914G>T	p.Glu638Asp	p.E638D	ENST00000354700	NM_030649.2	638	gaG/gaT	0	validated		damaging	
KNTC1		inserm.fr	GRCh37	12	123019254	123019254	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000333479.7:c.173G>A	p.Gly58Glu	p.G58E	ENST00000333479	NM_014708.4	58	gGg/gAg	0	not done		probablydamaging	
KNTC1		inserm.fr	GRCh37	12	123034327	123034327	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1534T																					ENST00000333479.7:c.1002G>A	p.Met334Ile	p.M334I	ENST00000333479	NM_014708.4	334	atG/atA	0	validated		benign	
KNTC1		inserm.fr	GRCh37	12	123035910	123035910	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC2103T																					ENST00000333479.7:c.1130+1G>A		p.X377_splice	ENST00000333479	NM_014708.4			0	not done		damaging	
KNTC1		inserm.fr	GRCh37	12	123036176	123036176	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2052T																					ENST00000333479.7:c.1205G>A	p.Arg402Gln	p.R402Q	ENST00000333479	NM_014708.4	402	cGg/cAg	0	not done		probablydamaging	
KNTC1		inserm.fr	GRCh37	12	123054291	123054291	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM337T																					ENST00000333479.7:c.1780T>A	p.Ser594Thr	p.S594T	ENST00000333479	NM_014708.4	594	Tca/Aca	0	validated		benign	
FABP7		inserm.fr	GRCh37	6	123102250	123102250	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1749T																					ENST00000368444.3:c.259C>A	p.Leu87Met	p.L87M	ENST00000368444	NM_001446.3	87	Ctg/Atg	0	not done		benign	
LRP6		inserm.fr	GRCh37	12	12312776	12312776	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1137T																					ENST00000261349.4:c.2402C>T	p.Ala801Val	p.A801V	ENST00000261349	NM_002336.2	801	gCt/gTt	0	not done		benign	
BLTP1		inserm.fr	GRCh37	4	123159456	123159456	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000264501.4:c.3784G>A	p.Val1262Ile	p.V1262I	ENST00000264501		1262	Gtt/Att	0	not done		benign	
BLTP1		inserm.fr	GRCh37	4	123270342	123270342	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000264501.4:c.13310G>A	p.Gly4437Asp	p.G4437D	ENST00000264501		4437	gGc/gAc	0	not done		probablydamaging	
CDK5RAP2		inserm.fr	GRCh37	9	123280774	123280774	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000349780.4:c.1242G>T	p.Glu414Asp	p.E414D	ENST00000349780	NM_018249.5	414	gaG/gaT	0	not done		probablydamaging	
SLC6A18		inserm.fr	GRCh37	5	1232872	1232872	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000324642.3:c.308G>A	p.Gly103Asp	p.G103D	ENST00000324642	NM_182632.2	103	gGc/gAc	0	not done		probablydamaging	
GRAMD1B		inserm.fr	GRCh37	11	123301743	123301743	+	synonymous_variant	Silent	SNP	G	A	A			BCM275T																					ENST00000533341.1:c.243G>A	p.Glu81=	p.E81=	ENST00000533341		81	gaG/gaA	0	validated		synonymous	
ADAD1		inserm.fr	GRCh37	4	123304959	123304959	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM769T																					ENST00000296513.2:c.367G>A	p.Val123Ile	p.V123I	ENST00000296513	NM_139243.3	123	Gtt/Att	0	validated		benign	
CLVS2		inserm.fr	GRCh37	6	123319247	123319247	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000275162.5:c.325G>A	p.Ala109Thr	p.A109T	ENST00000275162	NM_001010852.3	109	Gcc/Acc	0	not done		benign	
ADAD1		inserm.fr	GRCh37	4	123333966	123333966	+	splice_donor_variant	Splice_Site	SNP	T	A	A			CHC1592T																					ENST00000296513.2:c.1249+2T>A		p.X417_splice	ENST00000296513	NM_139243.3			0	not done		damaging	
HIP1R		inserm.fr	GRCh37	12	123343640	123343640	+	synonymous_variant	Silent	SNP	C	A	A			CHC1053T																					ENST00000253083.4:c.2191C>A	p.Arg731=	p.R731=	ENST00000253083	NM_003959.1	731	Cgg/Agg	0	validated		synonymous	
HIP1R		inserm.fr	GRCh37	12	123346038	123346038	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1079T																					ENST00000253083.4:c.3136G>A	p.Val1046Met	p.V1046M	ENST00000253083	NM_003959.1	1046	Gtg/Atg	0	not done		benign	
AFG3L2		inserm.fr	GRCh37	18	12337435	12337435	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1044T																					ENST00000269143.3:c.2080G>T	p.Ala694Ser	p.A694S	ENST00000269143	NM_006796.2	694	Gca/Tca	0	not done		probablydamaging	
IL2		inserm.fr	GRCh37	4	123374962	123374962	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000226730.4:c.254C>T	p.Pro85Leu	p.P85L	ENST00000226730	NM_000586.3	85	cCt/cTt	0	not done		benign	
CLVS2		inserm.fr	GRCh37	6	123377068	123377068	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000275162.5:c.793C>A	p.Leu265Met	p.L265M	ENST00000275162	NM_001010852.3	265	Ctg/Atg	0	not done		probablydamaging	
ABCB9		inserm.fr	GRCh37	12	123414665	123414665	+	synonymous_variant	Silent	SNP	C	A	A			CHC2034T																					ENST00000542678.1:c.2094G>T	p.Ala698=	p.A698=	ENST00000542678		698	gcG/gcT	0	not done		synonymous	
PITPNM2		inserm.fr	GRCh37	12	123472150	123472150	+	synonymous_variant	Silent	SNP	C	A	A			CHC1148T																					ENST00000320201.4:c.3171G>T	p.Thr1057=	p.T1057=	ENST00000320201	NM_020845.2	1057	acG/acT	0	not done		synonymous	
VPS13D		inserm.fr	GRCh37	1	12351057	12351057	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000358136.3:c.5728G>A	p.Gly1910Arg	p.G1910R	ENST00000358136	NM_015378.2	1910	Gga/Aga	0	not done		probablydamaging	
SCN3B		inserm.fr	GRCh37	11	123516310	123516310	+	synonymous_variant	Silent	SNP	G	A	A			CHC313T																					ENST00000392770.2:c.204C>T	p.Gly68=	p.G68=	ENST00000392770	NM_018400.3	68	ggC/ggT	0	validated		synonymous	
FBXW2		inserm.fr	GRCh37	9	123526843	123526843	+	synonymous_variant	Silent	SNP	G	A	A			CHC320T																					ENST00000608872.1:c.1359C>T	p.His453=	p.H453=	ENST00000608872	NM_012164.3	453	caC/caT	0	validated		synonymous	
PSMD5		inserm.fr	GRCh37	9	123589144	123589144	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1725T																					ENST00000210313.3:c.713A>T	p.His238Leu	p.H238L	ENST00000210313	NM_005047.3	238	cAt/cTt	0	not done		benign	
SPAM1		inserm.fr	GRCh37	7	123599570	123599570	+	synonymous_variant	Silent	SNP	G	A	A			CHC320T																					ENST00000340011.5:c.1077G>A	p.Glu359=	p.E359=	ENST00000340011	NM_003117.4	359	gaG/gaA	0	validated		synonymous	
OR6X1		inserm.fr	GRCh37	11	123624910	123624910	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000327930.2:c.317G>T	p.Gly106Val	p.G106V	ENST00000327930	NM_001005188.1	106	gGc/gTc	0	not done		probablydamaging	
TRDN		inserm.fr	GRCh37	6	123637637	123637637	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000398178.3:c.1475C>T	p.Pro492Leu	p.P492L	ENST00000398178	NM_006073.3	492	cCt/cTt	0	not done		benign	
TMEM229A		inserm.fr	GRCh37	7	123672531	123672531	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2200T																					ENST00000455783.1:c.527G>T	p.Arg176Leu	p.R176L	ENST00000455783	NM_001136002.1	176	cGc/cTc	0	validated		probablydamaging	
OR6M1		inserm.fr	GRCh37	11	123676933	123676933	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000309154.2:c.125C>T	p.Thr42Ile	p.T42I	ENST00000309154	NM_001005325.1	42	aCc/aTc	0	not done		benign	
VPS13D		inserm.fr	GRCh37	1	12368669	12368669	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000358136.3:c.6621G>A	p.Leu2207=	p.L2207=	ENST00000358136	NM_015378.2	2207	ctG/ctA	0	not done		synonymous	
ATE1		inserm.fr	GRCh37	10	123687413	123687413	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC2112T																					ENST00000369043.3:c.52G>T	p.Glu18Ter	p.E18*	ENST00000369043	NM_007041.2	18	Gag/Tag	0	validated		damaging	
TRDN		inserm.fr	GRCh37	6	123714817	123714817	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC121T									Valid												ENST00000398178.3:c.1057G>T	p.Gly353Ter	p.G353*	ENST00000398178	NM_006073.3	353	Gga/Tga	0	validated		damaging	
TRDN		inserm.fr	GRCh37	6	123714819	123714819	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB111T																					ENST00000398178.3:c.1055C>T	p.Pro352Leu	p.P352L	ENST00000398178	NM_006073.3	352	cCg/cTg	0	validated		probablydamaging	
VPS13D		inserm.fr	GRCh37	1	12371970	12371970	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000358136.3:c.6923G>A	p.Gly2308Glu	p.G2308E	ENST00000358136	NM_015378.2	2308	gGg/gAg	0	not done		benign	
TRDN		inserm.fr	GRCh37	6	123760110	123760110	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM269T									Valid												ENST00000398178.3:c.970A>T	p.Thr324Ser	p.T324S	ENST00000398178	NM_006073.3	324	Act/Tct	0	validated		probablydamaging	
TENM1		inserm.fr	GRCh37	X	123775778	123775778	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000422452.2:c.1940C>T	p.Ser647Phe	p.S647F	ENST00000422452	NM_001163279.1	647	tCt/tTt	0	not done		probablydamaging	
SBNO1		inserm.fr	GRCh37	12	123782690	123782690	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM483T									Valid												ENST00000420886.2:c.3874G>T	p.Gly1292Trp	p.G1292W	ENST00000420886	NM_001167856.1	1292	Ggg/Tgg	0	validated		probablydamaging	
C5		inserm.fr	GRCh37	9	123792744	123792744	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1725T																					ENST00000223642.1:c.689C>T	p.Ser230Leu	p.S230L	ENST00000223642	NM_001735.2	230	tCa/tTa	0	not done		benign	
TENM1		inserm.fr	GRCh37	X	123839011	123839011	+	synonymous_variant	Silent	SNP	C	A	A			CHC1044T																					ENST00000422452.2:c.867G>T	p.Ser289=	p.S289=	ENST00000422452	NM_001163279.1	289	tcG/tcT	0	not done		synonymous	
TACC2		inserm.fr	GRCh37	10	123843428	123843428	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000369005.1:c.1413G>A	p.Gln471=	p.Q471=	ENST00000369005	NM_206862.2	471	caG/caA	0	not done		synonymous	
TACC2		inserm.fr	GRCh37	10	123843932	123843932	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000369005.1:c.1917G>A	p.Gly639=	p.G639=	ENST00000369005	NM_206862.2	639	ggG/ggA	0	not done		synonymous	
TACC2		inserm.fr	GRCh37	10	123844346	123844346	+	synonymous_variant	Silent	SNP	G	A	A			CHC1744T																					ENST00000369005.1:c.2331G>A	p.Gly777=	p.G777=	ENST00000369005	NM_206862.2	777	ggG/ggA	0	not done		synonymous	
TACC2		inserm.fr	GRCh37	10	123844707	123844707	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369005.1:c.2692G>A	p.Gly898Arg	p.G898R	ENST00000369005	NM_206862.2	898	Gga/Aga	0	not done		benign	
TACC2		inserm.fr	GRCh37	10	123844964	123844964	+	synonymous_variant	Silent	SNP	T	A	A			CHC2115T																					ENST00000369005.1:c.2949T>A	p.Thr983=	p.T983=	ENST00000369005	NM_206862.2	983	acT/acA	0	not done		synonymous	
TACC2		inserm.fr	GRCh37	10	123844980	123844980	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369005.1:c.2965G>A	p.Gly989Arg	p.G989R	ENST00000369005	NM_206862.2	989	Ggg/Agg	0	not done		possiblydamaging	
SETD8		inserm.fr	GRCh37	12	123889497	123889497	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2048T																					ENST00000330479.4:c.724G>A	p.Val242Met	p.V242M	ENST00000330479	NM_020382.3	242	Gtg/Atg	0	not done		probablydamaging	
TACC2		inserm.fr	GRCh37	10	123903111	123903111	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000369005.1:c.5724G>A	p.Ala1908=	p.A1908=	ENST00000369005	NM_206862.2	1908	gcG/gcA	0	not done		synonymous	
OR10G7		inserm.fr	GRCh37	11	123909568	123909568	+	synonymous_variant	Silent	SNP	G	A	A			CHC1601T																					ENST00000330487.5:c.141C>T	p.Ile47=	p.I47=	ENST00000330487	NM_001004463.1	47	atC/atT	0	not done		synonymous	
CNTRL		inserm.fr	GRCh37	9	123939441	123939441	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1052T																					ENST00000373855.1:c.6955G>A	p.Glu2319Lys	p.E2319K	ENST00000373855		2319	Gaa/Aaa	0	validated		possiblydamaging	
ZHX2		inserm.fr	GRCh37	8	123965806	123965806	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000314393.4:c.2056G>A	p.Gly686Arg	p.G686R	ENST00000314393	NM_014943.3	686	Gga/Aga	0	not done		probablydamaging	
TACC2		inserm.fr	GRCh37	10	123970427	123970427	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1052T																					ENST00000369005.1:c.6487G>A	p.Val2163Ile	p.V2163I	ENST00000369005	NM_206862.2	2163	Gtc/Atc	0	validated		benign	
TACC2		inserm.fr	GRCh37	10	123987498	123987498	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC902T																					ENST00000369005.1:c.7871G>A	p.Gly2624Asp	p.G2624D	ENST00000369005	NM_206862.2	2624	gGc/gAc	0	not done		probablydamaging	
VWDE		inserm.fr	GRCh37	7	12399296	12399296	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1751T																					ENST00000275358.3:c.3182G>T	p.Gly1061Val	p.G1061V	ENST00000275358	NM_001135924.1	1061	gGa/gTa	0	not done		probablydamaging	
VWA5A		inserm.fr	GRCh37	11	124007755	124007755	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000456829.2:c.1659G>A	p.Leu553=	p.L553=	ENST00000456829	NM_001130142.1	553	ttG/ttA	0	not done		synonymous	
SIRPB2		inserm.fr	GRCh37	11	124056164	124056164	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1192T																					ENST00000318666.6:c.188T>A	p.Leu63Gln	p.L63Q	ENST00000318666		63	cTg/cAg	0	not done			
BTBD16		inserm.fr	GRCh37	10	124057293	124057293	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000260723.4:c.601G>A	p.Val201Met	p.V201M	ENST00000260723	NM_144587.2	201	Gtg/Atg	0	not done		benign	
DDX55		inserm.fr	GRCh37	12	124093304	124093304	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000238146.4:c.479G>A	p.Ser160Asn	p.S160N	ENST00000238146	NM_020936.1	160	aGc/aAc	0	not done		benign	
OR8G2		inserm.fr	GRCh37	11	124095868	124095868	+	non_coding_transcript_exon_variant	RNA	SNP	C	A	A			CHC892T																					ENST00000366149.3:n.432C>A		*144*	ENST00000366149				0	not done		synonymous	
OR8G2		inserm.fr	GRCh37	11	124096193	124096193	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC1085T																					ENST00000366149.3:n.757G>A		*253*	ENST00000366149				0	validated		probablydamaging	
OR8G2		inserm.fr	GRCh37	11	124096229	124096229	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC1085T																					ENST00000366149.3:n.793G>A		*265*	ENST00000366149				0	validated		benign	
STOM		inserm.fr	GRCh37	9	124103590	124103590	+	synonymous_variant	Silent	SNP	G	A	A			BCM783T																					ENST00000286713.2:c.757C>T	p.Leu253=	p.L253=	ENST00000286713	NM_004099.5	253	Ctg/Ttg	0	validated		synonymous	
EIF2B1		inserm.fr	GRCh37	12	124106433	124106433	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM739T																					ENST00000424014.2:c.788G>T	p.Gly263Val	p.G263V	ENST00000424014	NM_001414.3	263	gGa/gTa	0	validated		benign	
OR8G5		inserm.fr	GRCh37	11	124135686	124135686	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1594T																					ENST00000341493.2:c.859C>A	p.Pro287Thr	p.P287T	ENST00000341493	NM_001002905.1	287	Ccc/Acc	0	not done			
PLEKHA1		inserm.fr	GRCh37	10	124166110	124166110	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000368990.3:c.263G>A	p.Arg88Lys	p.R88K	ENST00000368990	NM_001001974.2	88	aGg/aAg	0	not done		probablydamaging	
VPS13D		inserm.fr	GRCh37	1	12418536	12418536	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000358136.3:c.10020G>A	p.Arg3340=	p.R3340=	ENST00000358136	NM_015378.2	3340	agG/agA	0	not done		synonymous	
TCTN2		inserm.fr	GRCh37	12	124189223	124189223	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1591T																					ENST00000303372.5:c.1757G>A	p.Gly586Asp	p.G586D	ENST00000303372	NM_024809.4	586	gGt/gAt	0	not done		probablydamaging	
VWDE		inserm.fr	GRCh37	7	12419127	12419127	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000275358.3:c.855C>T	p.Ser285=	p.S285=	ENST00000275358	NM_001135924.1	285	agC/agT	0	not done		synonymous	
OR8B2		inserm.fr	GRCh37	11	124252758	124252758	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000375013.2:c.482G>T	p.Gly161Val	p.G161V	ENST00000375013	NM_001005468.1	161	gGg/gTg	0	not done		probablydamaging	
DNAH10		inserm.fr	GRCh37	12	124272454	124272454	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000409039.3:c.1342G>A	p.Gly448Arg	p.G448R	ENST00000409039	NM_207437.3	448	Ggg/Agg	0	not done		probablydamaging	
DNAH10		inserm.fr	GRCh37	12	124284879	124284879	+	synonymous_variant	Silent	SNP	G	A	A			BCM439T																					ENST00000409039.3:c.2052G>A	p.Gly684=	p.G684=	ENST00000409039	NM_207437.3	684	ggG/ggA	0	validated		synonymous	
VWDE		inserm.fr	GRCh37	7	12428924	12428924	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB109T									Valid												ENST00000275358.3:c.304C>T	p.Pro102Ser	p.P102S	ENST00000275358	NM_001135924.1	102	Cca/Tca	0	validated		probablydamaging	
OR8B4		inserm.fr	GRCh37	11	124294610	124294610	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000356130.3:c.158C>T	p.Pro53Leu	p.P53L	ENST00000356130	NM_001005196.1	53	cCt/cTt	0	not done		benign	
DNAH10		inserm.fr	GRCh37	12	124298336	124298336	+	synonymous_variant	Silent	SNP	C	A	A			CHC1745T																					ENST00000409039.3:c.3303C>A	p.Thr1101=	p.T1101=	ENST00000409039	NM_207437.3	1101	acC/acA	0	not done		synonymous	
ZNF563		inserm.fr	GRCh37	19	12430215	12430215	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1624T																					ENST00000293725.5:c.624G>T	p.Trp208Cys	p.W208C	ENST00000293725	NM_145276.2	208	tgG/tgT	0	validated		probablydamaging	
DMBT1		inserm.fr	GRCh37	10	124330420	124330420	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1154T																					ENST00000368909.3:c.154T>A	p.Ser52Thr	p.S52T	ENST00000368909	NM_007329.2	52	Tcg/Acg	0	not done		possiblydamaging	
DNAH10		inserm.fr	GRCh37	12	124337848	124337848	+	synonymous_variant	Silent	SNP	G	A	A			CHC2098T																					ENST00000409039.3:c.6033G>A	p.Ser2011=	p.S2011=	ENST00000409039	NM_207437.3	2011	tcG/tcA	0	not done		synonymous	
SNTG2		inserm.fr	GRCh37	2	1243524	1243524	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM759T																					ENST00000308624.5:c.864C>A	p.Asn288Lys	p.N288K	ENST00000308624	NM_018968.3	288	aaC/aaA	0	validated		probablydamaging	
DNAH10		inserm.fr	GRCh37	12	124358220	124358220	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1209T																					ENST00000409039.3:c.7547G>A	p.Arg2516His	p.R2516H	ENST00000409039	NM_207437.3	2516	cGc/cAc	0	not done		probablydamaging	
DNAH10		inserm.fr	GRCh37	12	124364350	124364350	+	splice_donor_variant	Splice_Site	SNP	T	A	A			CHC1137T																					ENST00000409039.3:c.8280+2T>A		p.X2760_splice	ENST00000409039	NM_207437.3			0	not done		possiblydamaging	
DNAH10		inserm.fr	GRCh37	12	124366263	124366263	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1700T																					ENST00000409039.3:c.8372T>A	p.Ile2791Asn	p.I2791N	ENST00000409039	NM_207437.3	2791	aTc/aAc	0	not done		probablydamaging	
GPR37		inserm.fr	GRCh37	7	124387238	124387238	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1715T																					ENST00000303921.2:c.1183C>T	p.Leu395Phe	p.L395F	ENST00000303921	NM_005302.3	395	Ctt/Ttt	0	not done		probablydamaging	
KALRN		inserm.fr	GRCh37	3	124393394	124393394	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000291478.5:c.2035G>A	p.Val679Ile	p.V679I	ENST00000291478	NM_007064.3	679	Gtc/Atc	0	not done		benign	
KALRN		inserm.fr	GRCh37	3	124398320	124398320	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2099T																					ENST00000291478.5:c.2242G>A	p.Glu748Lys	p.E748K	ENST00000291478	NM_007064.3	748	Gag/Aag	0	not done		possiblydamaging	
OR8B12		inserm.fr	GRCh37	11	124413006	124413006	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000306842.2:c.545C>T	p.Pro182Leu	p.P182L	ENST00000306842	NM_001005195.1	182	cCt/cTt	0	not done		probablydamaging	
OR8B12		inserm.fr	GRCh37	11	124413189	124413189	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000306842.2:c.362G>T	p.Arg121Leu	p.R121L	ENST00000306842	NM_001005195.1	121	cGc/cTc	0	not done		probablydamaging	
KALRN		inserm.fr	GRCh37	3	124420914	124420914	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2052T																					ENST00000291478.5:c.2935T>A	p.Trp979Arg	p.W979R	ENST00000291478	NM_007064.3	979	Tgg/Agg	0	not done		probablydamaging	
OR8A1		inserm.fr	GRCh37	11	124440111	124440111	+	synonymous_variant	Silent	SNP	C	A	A			CHC1749T																					ENST00000284287.3:c.147C>A	p.Leu49=	p.L49=	ENST00000284287	NM_001005194.1	49	ctC/ctA	0	not done		synonymous	
UMPS		inserm.fr	GRCh37	3	124456531	124456531	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000232607.2:c.427G>A	p.Gly143Ser	p.G143S	ENST00000232607	NM_000373.3	143	Ggc/Agc	0	validated		probablydamaging	
LOC100129520		inserm.fr	GRCh37	X	124456582	124456582	+	downstream_gene_variant	3'Flank	SNP	G	A	A			CHC892T																								ENST00000394467				0	not done			
SLC6A18		inserm.fr	GRCh37	5	1244873	1244873	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000324642.3:c.1647C>A	p.Asn549Lys	p.N549K	ENST00000324642	NM_182632.2	549	aaC/aaA	0	not done		probablydamaging	
PANX3		inserm.fr	GRCh37	11	124489490	124489490	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC879T																					ENST00000284288.2:c.838T>A	p.Tyr280Asn	p.Y280N	ENST00000284288	NM_052959.2	280	Tac/Aac	0	not done		probablydamaging	
POT1		inserm.fr	GRCh37	7	124492004	124492004	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC801T																					ENST00000357628.3:c.871G>T	p.Asp291Tyr	p.D291Y	ENST00000357628	NM_015450.2	291	Gat/Tat	0	not done		possiblydamaging	
POT1		inserm.fr	GRCh37	7	124503604	124503604	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000357628.3:c.346C>T	p.Pro116Ser	p.P116S	ENST00000357628	NM_015450.2	116	Cct/Tct	0	validated		benign	
POT1		inserm.fr	GRCh37	7	124503636	124503636	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000357628.3:c.314C>T	p.Thr105Met	p.T105M	ENST00000357628	NM_015450.2	105	aCg/aTg	0	validated		probablydamaging	
SIAE		inserm.fr	GRCh37	11	124519580	124519580	+	synonymous_variant	Silent	SNP	G	A	A			CHC1743T																					ENST00000263593.3:c.657C>T	p.Gly219=	p.G219=	ENST00000263593		219	ggC/ggT	0	not done		synonymous	
DAB2IP		inserm.fr	GRCh37	9	124538629	124538629	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000259371.2:c.3189G>A	p.Gln1063=	p.Q1063=	ENST00000259371	NM_032552.2	1063	caG/caA	0	not done		synonymous	
CUZD1		inserm.fr	GRCh37	10	124600802	124600802	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000368904.1:c.125C>T	p.Ala42Val	p.A42V	ENST00000368904		42	gCa/gTa	0	not done		benign	
ROBO3		inserm.fr	GRCh37	11	124746178	124746178	+	synonymous_variant	Silent	SNP	G	A	A			CHC314T																					ENST00000397801.1:c.2601G>A	p.Pro867=	p.P867=	ENST00000397801	NM_022370.3	867	ccG/ccA	0	validated		synonymous	
ROBO4		inserm.fr	GRCh37	11	124765397	124765397	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000306534.3:c.992G>T	p.Arg331Leu	p.R331L	ENST00000306534	NM_019055.5	331	cGa/cTa	0	not done		possiblydamaging	
ROBO4		inserm.fr	GRCh37	11	124766963	124766963	+	synonymous_variant	Silent	SNP	G	A	A			CHC1569T																					ENST00000306534.3:c.265C>T	p.Leu89=	p.L89=	ENST00000306534	NM_019055.5	89	Ctg/Ttg	0	not done		synonymous	
NCOR2		inserm.fr	GRCh37	12	124848274	124848274	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC912T									Valid												ENST00000405201.1:c.2879C>T	p.Pro960Leu	p.P960L	ENST00000405201		960	cCa/cTa	0	validated		probablydamaging	
NCOR2		inserm.fr	GRCh37	12	124887049	124887049	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1205T																					ENST00000405201.1:c.1541G>T	p.Arg514Leu	p.R514L	ENST00000405201		514	cGc/cTc	0	not done		probablydamaging	
HMX3		inserm.fr	GRCh37	10	124896986	124896986	+	synonymous_variant	Silent	SNP	C	A	A			CHC1747T																					ENST00000357878.5:c.813C>A	p.Val271=	p.V271=	ENST00000357878	NM_001105574.1	271	gtC/gtA	0	not done		synonymous	
HMX2		inserm.fr	GRCh37	10	124908066	124908066	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC898T																					ENST00000339992.3:c.172G>A	p.Asp58Asn	p.D58N	ENST00000339992	NM_005519.1	58	Gac/Aac	0	not done		benign	
ZNF148		inserm.fr	GRCh37	3	124951325	124951325	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC155T									Valid												ENST00000360647.4:c.2245A>T	p.Ser749Cys	p.S749C	ENST00000360647	NM_021964.2	749	Agc/Tgc	0	validated		probablydamaging	
LHX6		inserm.fr	GRCh37	9	124975982	124975982	+	synonymous_variant	Silent	SNP	C	A	A			CHC320T																					ENST00000394319.4:c.957G>T	p.Pro319=	p.P319=	ENST00000394319	NM_014368.4	319	ccG/ccT	0	validated		synonymous	
CNTNAP5		inserm.fr	GRCh37	2	124979388	124979388	+	splice_donor_variant	Splice_Site	SNP	T	A	A			CHC2206T																					ENST00000431078.1:c.187+2T>A		p.X63_splice	ENST00000431078	NM_130773.3			0	not done		damaging	
RP11-687M24.4		inserm.fr	GRCh37	11	125003006	125003006	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000525429.1:n.330C>T		*110*	ENST00000525429				0	not done		synonymous	
FER1L6		inserm.fr	GRCh37	8	125015446	125015446	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000522917.1:c.1559G>A	p.Gly520Glu	p.G520E	ENST00000522917	NM_001039112.2	520	gGg/gAg	0	not done		benign	
FER1L6		inserm.fr	GRCh37	8	125074263	125074263	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000522917.1:c.3318G>A	p.Gln1106=	p.Q1106=	ENST00000522917	NM_001039112.2	1106	caG/caA	0	not done		synonymous	
FER1L6		inserm.fr	GRCh37	8	125103761	125103761	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000522917.1:c.4489G>A	p.Gly1497Arg	p.G1497R	ENST00000522917	NM_001039112.2	1497	Ggg/Agg	0	not done		probablydamaging	
SNTG2		inserm.fr	GRCh37	2	1251162	1251162	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T																					ENST00000308624.5:c.952C>A	p.Pro318Thr	p.P318T	ENST00000308624	NM_018968.3	318	Ccc/Acc	0	validated		benign	
LOH12CR1		inserm.fr	GRCh37	12	12514198	12514198	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000314565.4:c.117G>A	p.Gln39=	p.Q39=	ENST00000314565	NM_058169.3	39	caG/caA	0	not done		synonymous	
CNTNAP5		inserm.fr	GRCh37	2	125175103	125175103	+	synonymous_variant	Silent	SNP	G	A	A			CHC912T																					ENST00000431078.1:c.465G>A	p.Val155=	p.V155=	ENST00000431078	NM_130773.3	155	gtG/gtA	0	validated		synonymous	
CACNA1H		inserm.fr	GRCh37	16	1251893	1251893	+	synonymous_variant	Silent	SNP	C	A	A			CHC1035T																					ENST00000348261.5:c.1443C>A	p.Arg481=	p.R481=	ENST00000348261	NM_021098.2	481	cgC/cgA	0	validated		synonymous	
CACNA1H		inserm.fr	GRCh37	16	1252233	1252233	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000348261.5:c.1783G>A	p.Ala595Thr	p.A595T	ENST00000348261	NM_021098.2	595	Gca/Aca	0	validated		benign	
OR1J1		inserm.fr	GRCh37	9	125239276	125239276	+	synonymous_variant	Silent	SNP	T	A	A			CHC1743T																					ENST00000259357.2:c.930A>T	p.Ala310=	p.A310=	ENST00000259357	NM_001004451.1	310	gcA/gcT	0	not done		synonymous	
OR1J1		inserm.fr	GRCh37	9	125240005	125240005	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000259357.2:c.201C>T	p.Ala67=	p.A67=	ENST00000259357	NM_001004451.1	67	gcC/gcT	0	not done		synonymous	
OR1J1		inserm.fr	GRCh37	9	125240013	125240013	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC097T																					ENST00000259357.2:c.193C>T	p.His65Tyr	p.H65Y	ENST00000259357	NM_001004451.1	65	Cac/Tac	0	not done		probablydamaging	
CNTNAP5		inserm.fr	GRCh37	2	125261962	125261962	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB301T																					ENST00000431078.1:c.1153C>A	p.Gln385Lys	p.Q385K	ENST00000431078	NM_130773.3	385	Caa/Aaa	0	validated		benign	
OR1J2		inserm.fr	GRCh37	9	125273561	125273561	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC909T																					ENST00000335302.5:c.481C>A	p.Leu161Ile	p.L161I	ENST00000335302	NM_054107.1	161	Ctt/Att	0	not done		benign	
CNTNAP5		inserm.fr	GRCh37	2	125284875	125284875	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1081T																					ENST00000431078.1:c.1488T>A	p.Asn496Lys	p.N496K	ENST00000431078	NM_130773.3	496	aaT/aaA	0	validated		probablydamaging	
CNTNAP5		inserm.fr	GRCh37	2	125284950	125284950	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000431078.1:c.1563G>A	p.Gln521=	p.Q521=	ENST00000431078	NM_130773.3	521	caG/caA	0	not done		synonymous	
DCAF12L2		inserm.fr	GRCh37	X	125299344	125299344	+	synonymous_variant	Silent	SNP	G	A	A			CHC1028T																					ENST00000538699.1:c.564C>T	p.Gly188=	p.G188=	ENST00000538699	NM_001013628.2	188	ggC/ggT	0	validated		synonymous	
OR1N2		inserm.fr	GRCh37	9	125315998	125315998	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373688.2:c.550G>A	p.Ala184Thr	p.A184T	ENST00000373688	NM_001004457.1	184	Gct/Act	0	not done		benign	
FEZ1		inserm.fr	GRCh37	11	125359662	125359662	+	synonymous_variant	Silent	SNP	T	A	A			BCB307T																					ENST00000278919.3:c.12A>T	p.Pro4=	p.P4=	ENST00000278919	NM_005103.4	4	ccA/ccT	0	validated		synonymous	
MUC5B		inserm.fr	GRCh37	11	1253775	1253775	+	splice_donor_variant	Splice_Site	SNP	G	A	A			BCM723T																					ENST00000529681.1:c.1938+1G>A		p.X646_splice	ENST00000529681	NM_002458.2			0	validated		damaging	
GPR26		inserm.fr	GRCh37	10	125426285	125426285	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1741T																					ENST00000284674.1:c.362G>A	p.Arg121His	p.R121H	ENST00000284674	NM_153442.3	121	cGc/cAc	0	not done		possiblydamaging	
EI24		inserm.fr	GRCh37	11	125445305	125445305	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000278903.6:c.188+1G>A		p.X63_splice	ENST00000278903	NM_004879.3			0	not done		damaging	
GPR26		inserm.fr	GRCh37	10	125447659	125447659	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1207T																					ENST00000284674.1:c.997C>A	p.Leu333Met	p.L333M	ENST00000284674	NM_153442.3	333	Ctg/Atg	0	not done		possiblydamaging	
DHX37		inserm.fr	GRCh37	12	125449518	125449518	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000308736.2:c.1770G>T	p.Val590=	p.V590=	ENST00000308736	NM_032656.3	590	gtG/gtT	0	not done		synonymous	
CNTNAP5		inserm.fr	GRCh37	2	125547703	125547703	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1594T																					ENST00000431078.1:c.2974C>A	p.Pro992Thr	p.P992T	ENST00000431078	NM_130773.3	992	Ccc/Acc	0	not done		probablydamaging	
MTSS1		inserm.fr	GRCh37	8	125568492	125568492	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM337T																					ENST00000518547.1:c.1385C>T	p.Thr462Ile	p.T462I	ENST00000518547	NM_014751.4	462	aCt/aTt	0	validated		possiblydamaging	
CPXM2		inserm.fr	GRCh37	10	125601958	125601958	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000241305.3:c.560G>T	p.Gly187Val	p.G187V	ENST00000241305	NM_198148.2	187	gGa/gTa	0	not done		probablydamaging	
AACS		inserm.fr	GRCh37	12	125621269	125621269	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000316519.6:c.1740G>A	p.Glu580=	p.E580=	ENST00000316519	NM_023928.3	580	gaG/gaA	0	not done		synonymous	
CNTNAP5		inserm.fr	GRCh37	2	125622964	125622964	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000431078.1:c.3296G>A	p.Arg1099Lys	p.R1099K	ENST00000431078	NM_130773.3	1099	aGg/aAg	0	not done		benign	
RC3H2		inserm.fr	GRCh37	9	125642965	125642965	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC314T									Valid												ENST00000373670.1:c.868G>T	p.Glu290Ter	p.E290*	ENST00000373670		290	Gaa/Taa	0	validated		damaging	
RC3H2		inserm.fr	GRCh37	9	125642966	125642966	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC314T																					ENST00000373670.1:c.867G>T	p.Met289Ile	p.M289I	ENST00000373670		289	atG/atT	0	validated		possiblydamaging	
CPXM2		inserm.fr	GRCh37	10	125651043	125651043	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000241305.3:c.133C>T	p.Pro45Ser	p.P45S	ENST00000241305	NM_198148.2	45	Ccc/Tcc	0	not done		benign	
DCAF12L1		inserm.fr	GRCh37	X	125685856	125685856	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1531T																					ENST00000371126.1:c.736C>T	p.Arg246Cys	p.R246C	ENST00000371126	NM_178470.4	246	Cgt/Tgt	0	not done		probablydamaging	
DDX25		inserm.fr	GRCh37	11	125774418	125774418	+	synonymous_variant	Silent	SNP	G	A	A			CHC789T																					ENST00000263576.6:c.6G>A	p.Ala2=	p.A2=	ENST00000263576	NM_013264.4	2	gcG/gcA	0	validated		synonymous	
RABGAP1		inserm.fr	GRCh37	9	125777905	125777905	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1044T																					ENST00000373647.4:c.1633T>A	p.Leu545Met	p.L545M	ENST00000373647	NM_012197.3	545	Ttg/Atg	0	not done		possiblydamaging	
GPR21		inserm.fr	GRCh37	9	125797384	125797384	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373642.1:c.539G>A	p.Trp180Ter	p.W180*	ENST00000373642	NM_005294.2	180	tGg/tAg	0	not done		damaging	
GPR21		inserm.fr	GRCh37	9	125797533	125797533	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1044T																					ENST00000373642.1:c.688G>A	p.Ala230Thr	p.A230T	ENST00000373642	NM_005294.2	230	Gcc/Acc	0	not done		possiblydamaging	
GRAMD3		inserm.fr	GRCh37	5	125801203	125801203	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000513040.1:c.214G>A	p.Asp72Asn	p.D72N	ENST00000513040	NM_001146319.1	72	Gac/Aac	0	not done		benign	
RP11-680F20.4		inserm.fr	GRCh37	11	125810721	125810721	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			BCM617T																					ENST00000524467.1:n.368C>T		*123*	ENST00000524467				0	validated		synonymous	
CACNA1H		inserm.fr	GRCh37	16	1258221	1258221	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			BCM423T									Valid												ENST00000348261.5:c.3363G>A	p.Pro1121=	p.P1121=	ENST00000348261	NM_021098.2	1121	ccG/ccA	0	validated		damaging	
TMEM132B		inserm.fr	GRCh37	12	125834535	125834535	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000299308.3:c.590G>A	p.Gly197Asp	p.G197D	ENST00000299308	NM_052907.2	197	gGc/gAc	0	not done		possiblydamaging	
ALDH1L1		inserm.fr	GRCh37	3	125874288	125874288	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM483T																					ENST00000273450.3:c.617A>T	p.Glu206Val	p.E206V	ENST00000273450	NM_001270364.1	206	gAa/gTa	0	validated		probablydamaging	
STRBP		inserm.fr	GRCh37	9	125921432	125921432	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2352T																					ENST00000447404.2:c.778G>T	p.Ala260Ser	p.A260S	ENST00000447404		260	Gct/Tct	0	not done		probablydamaging	
CACNA1H		inserm.fr	GRCh37	16	1259257	1259257	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000348261.5:c.3589G>A	p.Glu1197Lys	p.E1197K	ENST00000348261	NM_021098.2	1197	Gag/Aag	0	validated		probablydamaging	
SQLE		inserm.fr	GRCh37	8	126030895	126030895	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1209T																					ENST00000265896.5:c.1370C>A	p.Ala457Glu	p.A457E	ENST00000265896	NM_003129.3	457	gCa/gAa	0	validated		benign	
SCIN		inserm.fr	GRCh37	7	12610472	12610472	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000433040.1:n.190C>T		p.X64_splice	ENST00000433040				0	not done		synonymous	
CACNA1H		inserm.fr	GRCh37	16	1261188	1261188	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000348261.5:c.4244G>A	p.Gly1415Asp	p.G1415D	ENST00000348261	NM_021098.2	1415	gGc/gAc	0	not done		probablydamaging	
CRB2		inserm.fr	GRCh37	9	126125420	126125420	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373631.3:c.371G>A	p.Arg124His	p.R124H	ENST00000373631	NM_173689.5	124	cGc/cAc	0	not done		benign	
TMEM132B		inserm.fr	GRCh37	12	126128739	126128739	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000299308.3:c.1540G>A	p.Ala514Thr	p.A514T	ENST00000299308	NM_052907.2	514	Gca/Aca	0	not done		benign	
CRB2		inserm.fr	GRCh37	9	126133049	126133049	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373631.3:c.1717G>A	p.Asp573Asn	p.D573N	ENST00000373631	NM_173689.5	573	Gac/Aac	0	not done		benign	
SRPR		inserm.fr	GRCh37	11	126135068	126135068	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC1745T																					ENST00000332118.6:c.1312-1G>T		p.X438_splice	ENST00000332118	NM_003139.3			0	not done		damaging	
TMEM132B		inserm.fr	GRCh37	12	126135439	126135439	+	synonymous_variant	Silent	SNP	C	A	A			CHC155T																					ENST00000299308.3:c.1839C>A	p.Ile613=	p.I613=	ENST00000299308	NM_052907.2	613	atC/atA	0	validated		synonymous	
CRB2		inserm.fr	GRCh37	9	126136112	126136112	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM695T																					ENST00000373631.3:c.3302C>A	p.Ala1101Asp	p.A1101D	ENST00000373631	NM_173689.5	1101	gCc/gAc	0	validated		benign	
SRPR		inserm.fr	GRCh37	11	126137906	126137906	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM375T																					ENST00000332118.6:c.193G>T	p.Val65Leu	p.V65L	ENST00000332118	NM_003139.3	65	Gtg/Ttg	0	validated		benign	
LMNB1		inserm.fr	GRCh37	5	126154695	126154695	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000261366.5:c.1021G>A	p.Asp341Asn	p.D341N	ENST00000261366	NM_001198557.1	341	Gac/Aac	0	not done		benign	
LHPP		inserm.fr	GRCh37	10	126205796	126205796	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000368842.5:c.672G>A	p.Gln224=	p.Q224=	ENST00000368842	NM_022126.3	224	caG/caA	0	not done		synonymous	
NCOA7		inserm.fr	GRCh37	6	126206317	126206317	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC736T									Valid												ENST00000368357.3:c.712G>A	p.Gly238Ser	p.G238S	ENST00000368357	NM_001199619.1	238	Ggt/Agt	0	validated		probablydamaging	
FAT4		inserm.fr	GRCh37	4	126238155	126238155	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000394329.3:c.589G>A	p.Gly197Arg	p.G197R	ENST00000394329	NM_024582.4	197	Gga/Aga	0	not done		probablydamaging	
FAT4		inserm.fr	GRCh37	4	126238208	126238208	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000394329.3:c.642G>A	p.Pro214=	p.P214=	ENST00000394329	NM_024582.4	214	ccG/ccA	0	not done		synonymous	
FAT4		inserm.fr	GRCh37	4	126238532	126238532	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000394329.3:c.966G>A	p.Thr322=	p.T322=	ENST00000394329	NM_024582.4	322	acG/acA	0	not done		synonymous	
FAT4		inserm.fr	GRCh37	4	126239540	126239540	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000394329.3:c.1974G>A	p.Leu658=	p.L658=	ENST00000394329	NM_024582.4	658	ttG/ttA	0	not done		synonymous	
FAT4		inserm.fr	GRCh37	4	126240856	126240856	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2099T																					ENST00000394329.3:c.3290G>A	p.Arg1097Lys	p.R1097K	ENST00000394329	NM_024582.4	1097	aGa/aAa	0	not done		probablydamaging	
NCOA7		inserm.fr	GRCh37	6	126242196	126242196	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000368357.3:c.2352G>A	p.Glu784=	p.E784=	ENST00000368357	NM_001199619.1	784	gaG/gaA	0	not done		synonymous	
MARCH3		inserm.fr	GRCh37	5	126250747	126250747	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC307T																					ENST00000308660.5:c.268A>T	p.Thr90Ser	p.T90S	ENST00000308660	NM_178450.4	90	Aca/Tca	0	validated		benign	
ST3GAL4		inserm.fr	GRCh37	11	126277238	126277238	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000526727.1:c.274G>A	p.Gly92Arg	p.G92R	ENST00000526727		92	Ggg/Agg	0	not done		probablydamaging	
MUC5B		inserm.fr	GRCh37	11	1263167	1263167	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM543T																					ENST00000529681.1:c.5057C>A	p.Pro1686Gln	p.P1686Q	ENST00000529681	NM_002458.2	1686	cCa/cAa	0	validated		possiblydamaging	
FAT4		inserm.fr	GRCh37	4	126329610	126329610	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000394329.3:c.5581G>A	p.Ala1861Thr	p.A1861T	ENST00000394329	NM_024582.4	1861	Gca/Aca	0	not done		possiblydamaging	
KIRREL3		inserm.fr	GRCh37	11	126343217	126343217	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000525144.2:c.578C>T	p.Ala193Val	p.A193V	ENST00000525144	NM_032531.3	193	gCc/gTc	0	not done		possiblydamaging	
KIRREL3		inserm.fr	GRCh37	11	126343310	126343310	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000525144.2:c.485C>T	p.Ala162Val	p.A162V	ENST00000525144	NM_032531.3	162	gCg/gTg	0	validated		probablydamaging	
FAT4		inserm.fr	GRCh37	4	126369955	126369955	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM337T																					ENST00000394329.3:c.7784G>A	p.Arg2595Lys	p.R2595K	ENST00000394329	NM_024582.4	2595	aGa/aAa	0	validated		probablydamaging	
FAT4		inserm.fr	GRCh37	4	126412496	126412496	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC912T									Valid												ENST00000394329.3:c.14519C>A	p.Ser4840Tyr	p.S4840Y	ENST00000394329	NM_024582.4	4840	tCt/tAt	0	validated		probablydamaging	
CHCHD6		inserm.fr	GRCh37	3	126449452	126449452	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000290913.3:c.245G>A	p.Gly82Glu	p.G82E	ENST00000290913	NM_032343.2	82	gGg/gAg	0	not done		benign	
CHCHD6		inserm.fr	GRCh37	3	126452005	126452005	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000290913.3:c.351G>A	p.Lys117=	p.K117=	ENST00000290913	NM_032343.2	117	aaG/aaA	0	not done		synonymous	
RAF1		inserm.fr	GRCh37	3	12650380	12650380	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1616T																					ENST00000251849.4:c.466C>T	p.Gln156Ter	p.Q156*	ENST00000251849	NM_002880.3	156	Cag/Tag	0	not done		damaging	
MYOCD		inserm.fr	GRCh37	17	12656402	12656402	+	synonymous_variant	Silent	SNP	G	A	A			CHC703T																					ENST00000425538.1:c.1797G>A	p.Pro599=	p.P599=	ENST00000425538	NM_001146312.1	599	ccG/ccA	0	not done		synonymous	
SPIRE1		inserm.fr	GRCh37	18	12657530	12657530	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	A	A			CHC1083T																					ENST00000409402.4:c.336G>T	p.Ala112=	p.A112=	ENST00000409402	NM_001128626.1	112	gcG/gcT	0	validated		damaging	
MYOCD		inserm.fr	GRCh37	17	12659827	12659827	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2112T																					ENST00000425538.1:c.2155G>A	p.Gly719Ser	p.G719S	ENST00000425538	NM_001146312.1	719	Ggt/Agt	0	not done			
CTBP2		inserm.fr	GRCh37	10	126678260	126678260	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000309035.6:c.2785C>T	p.Pro929Ser	p.P929S	ENST00000309035	NM_022802.2	929	Cca/Tca	0	not done		probablydamaging	
CTBP2		inserm.fr	GRCh37	10	126683202	126683202	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1611T																					ENST00000309035.6:c.2236G>T	p.Val746Phe	p.V746F	ENST00000309035	NM_022802.2	746	Gtc/Ttc	0	not done		probablydamaging	
CTBP2		inserm.fr	GRCh37	10	126691631	126691631	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1743T																					ENST00000309035.6:c.1876A>T	p.Thr626Ser	p.T626S	ENST00000309035	NM_022802.2	626	Acc/Tcc	0	not done		benign	
PLXNA1		inserm.fr	GRCh37	3	126707971	126707971	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000393409.2:c.535G>A	p.Gly179Ser	p.G179S	ENST00000393409	NM_032242.3	179	Ggc/Agc	0	not done		benign	
CTBP2		inserm.fr	GRCh37	10	126714963	126714963	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000309035.6:c.1366C>T	p.Pro456Ser	p.P456S	ENST00000309035	NM_022802.2	456	Ccc/Tcc	0	not done		benign	
PLXNA1		inserm.fr	GRCh37	3	126732911	126732911	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB231T																					ENST00000393409.2:c.2362G>A	p.Val788Ile	p.V788I	ENST00000393409	NM_032242.3	788	Gtc/Atc	0	validated		benign	
PLXNA1		inserm.fr	GRCh37	3	126734026	126734026	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			BCB325T									Valid												ENST00000393409.2:c.2878-1G>A		p.X960_splice	ENST00000393409	NM_032242.3			0	validated		damaging	
PLXNA1		inserm.fr	GRCh37	3	126752848	126752848	+	synonymous_variant	Silent	SNP	C	A	A			CHC1035T																					ENST00000393409.2:c.5679C>A	p.Ala1893=	p.A1893=	ENST00000393409	NM_032242.3	1893	gcC/gcA	0	validated		synonymous	
SCIN		inserm.fr	GRCh37	7	12675746	12675746	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000297029.5:c.1396G>A	p.Gly466Arg	p.G466R	ENST00000297029	NM_001112706.2	466	Gga/Aga	0	not done		probablydamaging	
MEGF10		inserm.fr	GRCh37	5	126758386	126758386	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000274473.6:c.1615G>A	p.Ala539Thr	p.A539T	ENST00000274473	NM_032446.2	539	Gct/Act	0	not done		benign	
MEGF10		inserm.fr	GRCh37	5	126774150	126774150	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000274473.6:c.2124G>A	p.Trp708Ter	p.W708*	ENST00000274473	NM_032446.2	708	tgG/tgA	0	not done		damaging	
LHX2		inserm.fr	GRCh37	9	126777480	126777480	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373615.4:c.403G>A	p.Val135Ile	p.V135I	ENST00000373615	NM_004789.3	135	Gtt/Att	0	not done		possiblydamaging	
SCIN		inserm.fr	GRCh37	7	12680083	12680083	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC326T																					ENST00000297029.5:c.1522C>A	p.Pro508Thr	p.P508T	ENST00000297029	NM_001112706.2	508	Ccc/Acc	0	validated		benign	
TYRP1		inserm.fr	GRCh37	9	12694014	12694014	+	synonymous_variant	Silent	SNP	C	A	A			CHC1715T																					ENST00000388918.5:c.18C>A	p.Leu6=	p.L6=	ENST00000388918	NM_000550.2	6	ctC/ctA	0	not done		synonymous	
TYRP1		inserm.fr	GRCh37	9	12695739	12695739	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000388918.5:c.610G>A	p.Gly204Arg	p.G204R	ENST00000388918	NM_000550.2	204	Gga/Aga	0	not done		probablydamaging	
CTXN3		inserm.fr	GRCh37	5	126993266	126993266	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1751T																					ENST00000379445.3:c.53C>A	p.Ser18Ter	p.S18*	ENST00000379445	NM_001048252.2	18	tCa/tAa	0	not done		damaging	
ZNF800		inserm.fr	GRCh37	7	127013719	127013719	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC884T									Valid												ENST00000393313.1:c.1671G>T	p.Glu557Asp	p.E557D	ENST00000393313		557	gaG/gaT	0	validated		probablydamaging	
NEK6		inserm.fr	GRCh37	9	127074928	127074928	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000373600.3:c.333G>A	p.Gln111=	p.Q111=	ENST00000373600	NM_001145001.2	111	caG/caA	0	not done		damaging	
PSMB7		inserm.fr	GRCh37	9	127177648	127177648	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000259457.3:c.57C>T	p.Cys19=	p.C19=	ENST00000259457	NM_002799.3	19	tgC/tgT	0	not done		synonymous	
GPR144		inserm.fr	GRCh37	9	127220895	127220895	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC2052T																					ENST00000334810.1:c.1686G>A	p.Arg562=	p.R562=	ENST00000334810	NM_001161808.1	562	agG/agA	0	not done		damaging	
TPSG1		inserm.fr	GRCh37	16	1272273	1272273	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC253T									Valid												ENST00000234798.4:c.580C>T	p.Arg194Trp	p.R194W	ENST00000234798	NM_012467.3	194	Cgg/Tgg	0	validated		probablydamaging	
GPR144		inserm.fr	GRCh37	9	127232779	127232779	+	synonymous_variant	Silent	SNP	G	A	A			CHC1040T																					ENST00000334810.1:c.2565G>A	p.Thr855=	p.T855=	ENST00000334810	NM_001161808.1	855	acG/acA	0	not done		synonymous	
FSCN3		inserm.fr	GRCh37	7	127235866	127235866	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1079T																					ENST00000265825.5:c.650T>A	p.Met217Lys	p.M217K	ENST00000265825	NM_020369.2	217	aTg/aAg	0	not done		possiblydamaging	
FSCN3		inserm.fr	GRCh37	7	127235893	127235893	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC121T									Valid												ENST00000265825.5:c.677C>A	p.Ala226Glu	p.A226E	ENST00000265825	NM_020369.2	226	gCa/gAa	0	validated		possiblydamaging	
MCM2		inserm.fr	GRCh37	3	127325044	127325044	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000265056.7:c.757G>A	p.Ala253Thr	p.A253T	ENST00000265056	NM_004526.3	253	Gcg/Acg	0	not done		benign	
SND1		inserm.fr	GRCh37	7	127339002	127339002	+	synonymous_variant	Silent	SNP	T	A	A			CHC1741T																					ENST00000354725.3:c.423T>A	p.Ala141=	p.A141=	ENST00000354725	NM_014390.2	141	gcT/gcA	0	not done		synonymous	
FRMPD4		inserm.fr	GRCh37	X	12734587	12734587	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000380682.1:c.2009G>A	p.Gly670Asp	p.G670D	ENST00000380682	NM_014728.3	670	gGc/gAc	0	not done		probablydamaging	
TEX36		inserm.fr	GRCh37	10	127350455	127350455	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC891T																					ENST00000368821.3:c.143C>T	p.Ala48Val	p.A48V	ENST00000368821	NM_001128202.1	48	gCg/gTg	0	not done		benign	
PODXL2		inserm.fr	GRCh37	3	127387362	127387362	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2352T																					ENST00000342480.6:c.1285C>A	p.His429Asn	p.H429N	ENST00000342480	NM_015720.3	429	Cat/Aat	0	not done		benign	
MUC5B		inserm.fr	GRCh37	11	1274139	1274139	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2099T																					ENST00000529681.1:c.15146G>A	p.Cys5049Tyr	p.C5049Y	ENST00000529681	NM_002458.2	5049	tGc/tAc	0	not done		probablydamaging	
SND1		inserm.fr	GRCh37	7	127447560	127447560	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM375T									Valid												ENST00000354725.3:c.1175C>A	p.Pro392His	p.P392H	ENST00000354725	NM_014390.2	392	cCc/cAc	0	validated		probablydamaging	
MUC5B		inserm.fr	GRCh37	11	1275491	1275491	+	synonymous_variant	Silent	SNP	C	A	A			CHC1629T																					ENST00000529681.1:c.15387C>A	p.Ala5129=	p.A5129=	ENST00000529681	NM_002458.2	5129	gcC/gcA	0	not done		synonymous	
UNCX		inserm.fr	GRCh37	7	1275666	1275666	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC437T																					ENST00000316333.8:c.649C>A	p.Arg217Ser	p.R217S	ENST00000316333	NM_001080461.1	217	Cgc/Agc	0	not done		probablydamaging	
DVL1		inserm.fr	GRCh37	1	1275679	1275679	+	synonymous_variant	Silent	SNP	G	A	A			CHC322T																					ENST00000378891.5:c.717C>T	p.Ser239=	p.S239=	ENST00000378891	NM_004421.2	239	agC/agT	0	validated		synonymous	
DVL1		inserm.fr	GRCh37	1	1275868	1275868	+	synonymous_variant	Silent	SNP	C	A	A			CHC433T																					ENST00000378891.5:c.621G>T	p.Thr207=	p.T207=	ENST00000378891	NM_004421.2	207	acG/acT	0	validated		synonymous	
MAN2B1		inserm.fr	GRCh37	19	12760930	12760930	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2206T																					ENST00000456935.2:c.2153C>T	p.Pro718Leu	p.P718L	ENST00000456935	NM_000528.3	718	cCg/cTg	0	not done		probablydamaging	
FBN2		inserm.fr	GRCh37	5	127624853	127624853	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000508053.1:c.6603C>T	p.Gly2201=	p.G2201=	ENST00000508053		2201	ggC/ggT	0	not done		synonymous	
FBN2		inserm.fr	GRCh37	5	127642866	127642866	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC434T																					ENST00000508053.1:c.5383C>T	p.Pro1795Ser	p.P1795S	ENST00000508053		1795	Cct/Tct	0	validated		probablydamaging	
MAN2B1		inserm.fr	GRCh37	19	12766533	12766533	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC912T									Valid												ENST00000456935.2:c.1805C>T	p.Ser602Phe	p.S602F	ENST00000456935	NM_000528.3	602	tCc/tTc	0	validated		probablydamaging	
FBN2		inserm.fr	GRCh37	5	127668686	127668686	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC097T																					ENST00000508053.1:c.4140G>T	p.Met1380Ile	p.M1380I	ENST00000508053		1380	atG/atT	0	not done		probablydamaging	
FBN2		inserm.fr	GRCh37	5	127670451	127670451	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1065T									Valid												ENST00000508053.1:c.4059G>T	p.Gln1353His	p.Q1353H	ENST00000508053		1353	caG/caT	0	validated		probablydamaging	
FBN2		inserm.fr	GRCh37	5	127670910	127670910	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1592T																					ENST00000508053.1:c.3925C>T	p.Leu1309Phe	p.L1309F	ENST00000508053		1309	Ctc/Ttc	0	not done		probablydamaging	
MAN2B1		inserm.fr	GRCh37	19	12769288	12769288	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1744T																					ENST00000456935.2:c.1063A>T	p.Thr355Ser	p.T355S	ENST00000456935	NM_000528.3	355	Acc/Tcc	0	not done		probablydamaging	
FBN2		inserm.fr	GRCh37	5	127693065	127693065	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000508053.1:c.2577C>T	p.Asn859=	p.N859=	ENST00000508053		859	aaC/aaT	0	not done		synonymous	
FANK1		inserm.fr	GRCh37	10	127693606	127693606	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000368693.1:c.693G>A	p.Lys231=	p.K231=	ENST00000368693		231	aaG/aaA	0	not done		synonymous	
FANK1		inserm.fr	GRCh37	10	127697980	127697980	+	synonymous_variant	Silent	SNP	G	A	A			CHC1148T																					ENST00000368693.1:c.1011G>A	p.Gln337=	p.Q337=	ENST00000368693		337	caG/caA	0	not done		synonymous	
FBN2		inserm.fr	GRCh37	5	127700365	127700365	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM339T																					ENST00000508053.1:c.2356A>T	p.Asn786Tyr	p.N786Y	ENST00000508053		786	Aac/Tac	0	validated		probablydamaging	
FBN2		inserm.fr	GRCh37	5	127704891	127704891	+	synonymous_variant	Silent	SNP	G	A	A			CHC798T																					ENST00000508053.1:c.2232C>T	p.Cys744=	p.C744=	ENST00000508053		744	tgC/tgT	0	validated		synonymous	
ADAM12		inserm.fr	GRCh37	10	127724804	127724804	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC433T									Valid												ENST00000368679.4:c.2449C>T	p.Arg817Ter	p.R817*	ENST00000368679	NM_003474.4	817	Cga/Tga	0	validated		damaging	
SND1		inserm.fr	GRCh37	7	127729599	127729599	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC301T																					ENST00000354725.3:c.2477G>A	p.Cys826Tyr	p.C826Y	ENST00000354725	NM_014390.2	826	tGc/tAc	0	validated		benign	
SND1		inserm.fr	GRCh37	7	127729698	127729698	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000354725.3:c.2576G>A	p.Gly859Glu	p.G859E	ENST00000354725	NM_014390.2	859	gGg/gAg	0	not done		probablydamaging	
SEC61A1		inserm.fr	GRCh37	3	127785927	127785927	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM735T																					ENST00000243253.3:c.908T>A	p.Val303Asp	p.V303D	ENST00000243253	NM_013336.3	303	gTc/gAc	0	validated		possiblydamaging	
ADAM12		inserm.fr	GRCh37	10	127787035	127787035	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC314T									Valid												ENST00000368679.4:c.955G>T	p.Ala319Ser	p.A319S	ENST00000368679	NM_003474.4	319	Gcc/Tcc	0	validated		probablydamaging	
ADAM12		inserm.fr	GRCh37	10	127789742	127789742	+	synonymous_variant	Silent	SNP	G	A	A			CHC1052T																					ENST00000368679.4:c.819C>T	p.Cys273=	p.C273=	ENST00000368679	NM_003474.4	273	tgC/tgT	0	validated		synonymous	
SOGA3		inserm.fr	GRCh37	6	127796532	127796532	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000481848.2:c.2639C>T	p.Ala880Val	p.A880V	ENST00000481848		880	gCc/gTc	0	not done		possiblydamaging	
SOGA3		inserm.fr	GRCh37	6	127796668	127796668	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	A	A			BCB167T																					ENST00000481848.2:c.2503G>T	p.Asp835Tyr	p.D835Y	ENST00000481848		835	Gac/Tac	0	validated		probablydamaging	
SOGA3		inserm.fr	GRCh37	6	127796701	127796701	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	A	A			CHC1717T																					ENST00000481848.2:c.2470C>T	p.Arg824Cys	p.R824C	ENST00000481848		824	Cgc/Tgc	0	not done		probablydamaging	
BIN1		inserm.fr	GRCh37	2	127809911	127809911	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000316724.5:c.1291C>T	p.Pro431Ser	p.P431S	ENST00000316724	NM_139343.2	431	Cct/Tct	0	not done		benign	
BIN1		inserm.fr	GRCh37	2	127828389	127828389	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1600T																					ENST00000316724.5:c.169G>T	p.Glu57Ter	p.E57*	ENST00000316724	NM_139343.2	57	Gag/Tag	0	validated		damaging	
RUVBL1		inserm.fr	GRCh37	3	127838205	127838205	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000322623.5:c.194C>T	p.Ala65Val	p.A65V	ENST00000322623	NM_003707.2	65	gCt/gTt	0	not done		probablydamaging	
RUVBL1		inserm.fr	GRCh37	3	127838206	127838206	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000322623.5:c.193G>T	p.Ala65Ser	p.A65S	ENST00000322623	NM_003707.2	65	Gct/Tct	0	not done		possiblydamaging	
AADACL3		inserm.fr	GRCh37	1	12785337	12785337	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC320T																					ENST00000359318.5:c.427G>A	p.Ala143Thr	p.A143T	ENST00000359318	NM_001103170.1	143	Gca/Aca	0	validated		benign	
FBN2		inserm.fr	GRCh37	5	127866360	127866360	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1712T																					ENST00000508053.1:c.364G>T	p.Gly122Ter	p.G122*	ENST00000508053		122	Gga/Tga	0	not done		damaging	
PTPN2		inserm.fr	GRCh37	18	12794369	12794369	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000309660.5:c.1156C>T	p.Gln386Ter	p.Q386*	ENST00000309660	NM_002828.3	386	Caa/Taa	0	not done		damaging	
IMPDH1		inserm.fr	GRCh37	7	128049814	128049814	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1734T																					ENST00000338791.6:c.142G>T	p.Glu48Ter	p.E48*	ENST00000338791	NM_000883.3	48	Gag/Tag	0	validated		damaging	
GAPVD1		inserm.fr	GRCh37	9	128061369	128061369	+	synonymous_variant	Silent	SNP	C	A	A			CHC1568T																					ENST00000394105.2:c.169C>A	p.Arg57=	p.R57=	ENST00000394105	NM_015635.2	57	Cgg/Agg	0	not done		synonymous	
MAP3K2		inserm.fr	GRCh37	2	128075800	128075800	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM269T																					ENST00000409947.1:c.1139G>T	p.Arg380Ile	p.R380I	ENST00000409947		380	aGa/aTa	0	validated		probablydamaging	
GAPVD1		inserm.fr	GRCh37	9	128092466	128092466	+	synonymous_variant	Silent	SNP	T	A	A			CHC892T																					ENST00000394105.2:c.2142T>A	p.Ala714=	p.A714=	ENST00000394105	NM_015635.2	714	gcT/gcA	0	not done		synonymous	
THEMIS		inserm.fr	GRCh37	6	128134048	128134048	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T									Valid												ENST00000543064.1:c.1738G>T	p.Asp580Tyr	p.D580Y	ENST00000543064	NM_001164685.1	580	Gac/Tac	0	validated		benign	
THEMIS		inserm.fr	GRCh37	6	128134155	128134155	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2362T																					ENST00000543064.1:c.1631G>T	p.Arg544Leu	p.R544L	ENST00000543064	NM_001164685.1	544	cGg/cTg	0	validated		probablydamaging	
THEMIS		inserm.fr	GRCh37	6	128134847	128134847	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000543064.1:c.939C>T	p.Tyr313=	p.Y313=	ENST00000543064	NM_001164685.1	313	taC/taT	0	not done		synonymous	
GPR19		inserm.fr	GRCh37	12	12814606	12814606	+	synonymous_variant	Silent	SNP	C	A	A			CHC432T																					ENST00000540510.1:c.777G>T	p.Thr259=	p.T259=	ENST00000540510		259	acG/acT	0	not done		synonymous	
C10orf90		inserm.fr	GRCh37	10	128149999	128149999	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000284694.7:c.1690C>T	p.Gln564Ter	p.Q564*	ENST00000284694	NM_001004298.2	564	Caa/Taa	0	not done		damaging	
C10orf90		inserm.fr	GRCh37	10	128150145	128150145	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC891T																					ENST00000284694.7:c.1544C>T	p.Thr515Ile	p.T515I	ENST00000284694	NM_001004298.2	515	aCa/aTa	0	validated		probablydamaging	
THEMIS		inserm.fr	GRCh37	6	128150671	128150671	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC794T									Valid												ENST00000543064.1:c.659A>T	p.Tyr220Phe	p.Y220F	ENST00000543064	NM_001164685.1	220	tAt/tTt	0	validated		benign	
THEMIS		inserm.fr	GRCh37	6	128150740	128150740	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000543064.1:c.590C>T	p.Thr197Ile	p.T197I	ENST00000543064	NM_001164685.1	197	aCa/aTa	0	not done		possiblydamaging	
C10orf90		inserm.fr	GRCh37	10	128153364	128153364	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000284694.7:c.1435C>T	p.Pro479Ser	p.P479S	ENST00000284694	NM_001004298.2	479	Ccc/Tcc	0	not done		benign	
CFAP107		inserm.fr	GRCh37	1	12819357	12819357	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB151T																					ENST00000288048.5:c.340C>A	p.Leu114Ile	p.L114I	ENST00000288048	NM_152290.2	114	Ctc/Atc	0	validated		benign	
C10orf90		inserm.fr	GRCh37	10	128193644	128193644	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC433T																					ENST00000284694.7:c.125C>T	p.Ala42Val	p.A42V	ENST00000284694	NM_001004298.2	42	gCa/gTa	0	validated		probablydamaging	
IWS1		inserm.fr	GRCh37	2	128263159	128263159	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1715T																					ENST00000295321.4:c.320A>T	p.Asp107Val	p.D107V	ENST00000295321	NM_017969.2	107	gAt/gTt	0	not done		probablydamaging	
C3orf27		inserm.fr	GRCh37	3	128292517	128292517	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000356020.2:c.56C>T	p.Thr19Met	p.T19M	ENST00000356020	NM_007354.2	19	aCg/aTg	0	validated		benign	
TNPO2		inserm.fr	GRCh37	19	12829931	12829931	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC121T																					ENST00000425528.1:c.237G>T	p.Gln79His	p.Q79H	ENST00000425528		79	caG/caT	0	validated		benign	
GARIN1B		inserm.fr	GRCh37	7	128355630	128355630	+	synonymous_variant	Silent	SNP	G	A	A			CHC1746T																					ENST00000315184.5:c.135G>A	p.Glu45=	p.E45=	ENST00000315184	NM_032599.2	45	gaG/gaA	0	not done		synonymous	
SLC27A6		inserm.fr	GRCh37	5	128362868	128362868	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000262462.4:c.1298C>A	p.Pro433His	p.P433H	ENST00000262462		433	cCc/cAc	0	not done		probablydamaging	
SLC27A6		inserm.fr	GRCh37	5	128368956	128368956	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1741T																					ENST00000262462.4:c.1841T>A	p.Leu614Ter	p.L614*	ENST00000262462		614	tTa/tAa	0	not done		damaging	
MYO7B		inserm.fr	GRCh37	2	128381672	128381672	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM275T									Valid												ENST00000428314.1:c.3746G>A	p.Trp1249Ter	p.W1249*	ENST00000428314	NM_001080527.1	1249	tGg/tAg	0	validated		damaging	
LIMS2		inserm.fr	GRCh37	2	128400530	128400530	+	synonymous_variant	Silent	SNP	G	A	A			CHC1715T																					ENST00000324938.5:c.549C>T	p.Tyr183=	p.Y183=	ENST00000324938	NM_017980.4	183	taC/taT	0	not done		synonymous	
MAPKAP1		inserm.fr	GRCh37	9	128432165	128432165	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2034T																					ENST00000265960.3:c.281G>T	p.Arg94Leu	p.R94L	ENST00000265960	NM_001006617.1	94	cGa/cTa	0	validated		probablydamaging	
CCDC136		inserm.fr	GRCh37	7	128434588	128434588	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1756T																					ENST00000297788.4:c.203T>A	p.Leu68Gln	p.L68Q	ENST00000297788	NM_022742.4	68	cTg/cAg	0	not done		probablydamaging	
CCDC136		inserm.fr	GRCh37	7	128451916	128451916	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000297788.4:c.2091G>A	p.Ala697=	p.A697=	ENST00000297788	NM_022742.4	697	gcG/gcA	0	validated		synonymous	
FLNC		inserm.fr	GRCh37	7	128483919	128483919	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000325888.8:c.2881G>A	p.Ala961Thr	p.A961T	ENST00000325888	NM_001458.4	961	Gca/Aca	0	not done		probablydamaging	
FLNC		inserm.fr	GRCh37	7	128490080	128490080	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000325888.8:c.5250G>A	p.Leu1750=	p.L1750=	ENST00000325888	NM_001458.4	1750	ctG/ctA	0	not done		synonymous	
FLNC		inserm.fr	GRCh37	7	128492926	128492926	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1148T																					ENST00000325888.8:c.6049G>A	p.Val2017Met	p.V2017M	ENST00000325888	NM_001458.4	2017	Gtg/Atg	0	not done		probablydamaging	
FLNC		inserm.fr	GRCh37	7	128498529	128498529	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000325888.8:c.8130G>A	p.Trp2710Ter	p.W2710*	ENST00000325888	NM_001458.4	2710	tgG/tgA	0	not done		damaging	
KCP		inserm.fr	GRCh37	7	128542853	128542853	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000476647.2:n.852C>T		*284*	ENST00000476647				0	not done		probablydamaging	
KCP		inserm.fr	GRCh37	7	128547387	128547387	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000476647.2:n.383C>T		*128*	ENST00000476647				0	not done		synonymous	
PTPRK		inserm.fr	GRCh37	6	128561259	128561259	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2216T																					ENST00000368213.5:c.614A>T	p.Glu205Val	p.E205V	ENST00000368213	NM_001135648.1	205	gAg/gTg	0	not done		probablydamaging	
SNPH		inserm.fr	GRCh37	20	1285703	1285703	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1205T																					ENST00000381873.3:c.490C>A	p.Gln164Lys	p.Q164K	ENST00000381873	NM_014723.2	164	Cag/Aag	0	not done		possiblydamaging	
CAND2		inserm.fr	GRCh37	3	12858571	12858571	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000456430.2:c.2140G>A	p.Ala714Thr	p.A714T	ENST00000456430	NM_001162499.1	714	Gct/Act	0	not done		benign	
CAND2		inserm.fr	GRCh37	3	12858741	12858741	+	synonymous_variant	Silent	SNP	G	A	A			CHC796T																					ENST00000456430.2:c.2310G>A	p.Pro770=	p.P770=	ENST00000456430	NM_001162499.1	770	ccG/ccA	0	validated		synonymous	
CAND2		inserm.fr	GRCh37	3	12858792	12858792	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000456430.2:c.2361G>A	p.Glu787=	p.E787=	ENST00000456430	NM_001162499.1	787	gaG/gaA	0	not done		synonymous	
CAND2		inserm.fr	GRCh37	3	12858814	12858814	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000456430.2:c.2383G>A	p.Gly795Ser	p.G795S	ENST00000456430	NM_001162499.1	795	Ggc/Agc	0	not done		benign	
ARHGAP44		inserm.fr	GRCh37	17	12862171	12862171	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM375T									Valid												ENST00000379672.5:c.1480G>A	p.Val494Ile	p.V494I	ENST00000379672	NM_014859.4	494	Gtc/Atc	0	validated		possiblydamaging	
SLC25A31		inserm.fr	GRCh37	4	128651788	128651788	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000281154.4:c.88G>A	p.Ala30Thr	p.A30T	ENST00000281154	NM_031291.2	30	Gcg/Acg	0	not done		probablydamaging	
KIAA1257		inserm.fr	GRCh37	3	128653977	128653977	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1211T																					ENST00000508239.1:c.1082C>T	p.Ala361Val	p.A361V	ENST00000508239		361	gCt/gTt	0	not done			
BEST2		inserm.fr	GRCh37	19	12866674	12866674	+	synonymous_variant	Silent	SNP	T	A	A			CHC1725T																					ENST00000549706.1:c.873T>A	p.Ala291=	p.A291=	ENST00000549706		291	gcT/gcA	0	not done		synonymous	
FLI1		inserm.fr	GRCh37	11	128680809	128680809	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1756T																					ENST00000527786.2:c.1285G>A	p.Gly429Arg	p.G429R	ENST00000527786	NM_001271010.1	429	Gga/Aga	0	not done		possiblydamaging	
OCRL		inserm.fr	GRCh37	X	128692651	128692651	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371113.4:c.481G>A	p.Asp161Asn	p.D161N	ENST00000371113	NM_000276.3	161	Gac/Aac	0	not done		benign	
KIAA1257		inserm.fr	GRCh37	3	128706663	128706663	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000265068.5:c.463C>T	p.Pro155Ser	p.P155S	ENST00000265068	NM_020741.2	155	Ccg/Tcg	0	not done		probablydamaging	
SAP130		inserm.fr	GRCh37	2	128707776	128707776	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1720T																					ENST00000357702.5:c.2707G>T	p.Val903Leu	p.V903L	ENST00000357702	NM_001145928.1	903	Gtg/Ttg	0	not done		benign	
EFCC1		inserm.fr	GRCh37	3	128720880	128720880	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000480450.1:c.409C>A	p.Pro137Thr	p.P137T	ENST00000480450		137	Ccg/Acg	0	not done		probablydamaging	
OCRL		inserm.fr	GRCh37	X	128722155	128722155	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC1750T																					ENST00000371113.4:c.2257-1G>A		p.X753_splice	ENST00000371113	NM_000276.3			0	not done		damaging	
HSPA4L		inserm.fr	GRCh37	4	128726304	128726304	+	synonymous_variant	Silent	SNP	C	A	A			CHC2048T																					ENST00000296464.4:c.1062C>A	p.Ile354=	p.I354=	ENST00000296464	NM_014278.2	354	atC/atA	0	not done		synonymous	
EFCC1		inserm.fr	GRCh37	3	128751768	128751768	+	synonymous_variant	Silent	SNP	G	A	A			BCM545T																					ENST00000480450.1:c.1242G>A	p.Glu414=	p.E414=	ENST00000480450		414	gaG/gaA	0	validated		synonymous	
DOCK1		inserm.fr	GRCh37	10	128795033	128795033	+	synonymous_variant	Silent	SNP	G	A	A			CHC1182T																					ENST00000280333.6:c.495G>A	p.Val165=	p.V165=	ENST00000280333	NM_001380.3	165	gtG/gtA	0	not done		synonymous	
DOCK1		inserm.fr	GRCh37	10	128796513	128796513	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC2358T																					ENST00000280333.6:c.767G>A	p.Ser256Asn	p.S256N	ENST00000280333	NM_001380.3	256	aGt/aAt	0	validated		damaging	
TSPAN33		inserm.fr	GRCh37	7	128807378	128807378	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000289407.4:c.727G>A	p.Ala243Thr	p.A243T	ENST00000289407	NM_178562.3	243	Gct/Act	0	not done		possiblydamaging	
ARHGAP32		inserm.fr	GRCh37	11	128839372	128839372	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000310343.9:c.5694C>T	p.Pro1898=	p.P1898=	ENST00000310343	NM_001142685.1	1898	ccC/ccT	0	not done		synonymous	
ARHGAP32		inserm.fr	GRCh37	11	128839517	128839517	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM339T																					ENST00000310343.9:c.5549C>T	p.Pro1850Leu	p.P1850L	ENST00000310343	NM_001142685.1	1850	cCg/cTg	0	validated		benign	
ARHGAP32		inserm.fr	GRCh37	11	128839771	128839771	+	synonymous_variant	Silent	SNP	C	A	A			CHC1211T																					ENST00000310343.9:c.5295G>T	p.Val1765=	p.V1765=	ENST00000310343	NM_001142685.1	1765	gtG/gtT	0	not done		synonymous	
ARHGAP32		inserm.fr	GRCh37	11	128844472	128844472	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC2098T																					ENST00000310343.9:c.2578G>T	p.Glu860Ter	p.E860*	ENST00000310343	NM_001142685.1	860	Gag/Tag	0	not done		damaging	
ADAMTS19		inserm.fr	GRCh37	5	128844812	128844812	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC097T																					ENST00000274487.4:c.772C>A	p.Pro258Thr	p.P258T	ENST00000274487	NM_133638.3	258	Cca/Aca	0	not done		probablydamaging	
ADAMTS19		inserm.fr	GRCh37	5	128844813	128844813	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC097T																					ENST00000274487.4:c.773C>A	p.Pro258Gln	p.P258Q	ENST00000274487	NM_133638.3	258	cCa/cAa	0	not done		probablydamaging	
SMO		inserm.fr	GRCh37	7	128845507	128845507	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1137T																					ENST00000249373.3:c.804C>A	p.Phe268Leu	p.F268L	ENST00000249373	NM_005631.4	268	ttC/ttA	0	not done		benign	
SMO		inserm.fr	GRCh37	7	128849204	128849204	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000249373.3:c.1432G>A	p.Ala478Thr	p.A478T	ENST00000249373	NM_005631.4	478	Gct/Act	0	not done		probablydamaging	
ISY1		inserm.fr	GRCh37	3	128853675	128853675	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC736T																					ENST00000273541.8:c.607C>T	p.Leu203Phe	p.L203F	ENST00000273541		203	Ctc/Ttc	0	validated		damaging	
ARHGAP32		inserm.fr	GRCh37	11	128856436	128856436	+	synonymous_variant	Silent	SNP	G	A	A			CHC1185T																					ENST00000310343.9:c.1384C>T	p.Leu462=	p.L462=	ENST00000310343	NM_001142685.1	462	Ctg/Ttg	0	not done		synonymous	
XPNPEP2		inserm.fr	GRCh37	X	128888448	128888448	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371106.3:c.1108G>A	p.Val370Met	p.V370M	ENST00000371106	NM_003399.5	370	Gtg/Atg	0	not done		probablydamaging	
ADAMTS19		inserm.fr	GRCh37	5	128977575	128977575	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000274487.4:c.1776G>A	p.Trp592Ter	p.W592*	ENST00000274487	NM_133638.3	592	tgG/tgA	0	not done		damaging	
ELAC2		inserm.fr	GRCh37	17	12898167	12898167	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2211T																					ENST00000338034.4:c.1943C>T	p.Ala648Val	p.A648V	ENST00000338034	NM_018127.6	648	gCg/gTg	0	not done		probablydamaging	
JUNB		inserm.fr	GRCh37	19	12902664	12902664	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000302754.4:c.79C>A	p.Leu27Ile	p.L27I	ENST00000302754	NM_002229.2	27	Ctc/Atc	0	not done		possiblydamaging	
JUNB		inserm.fr	GRCh37	19	12903000	12903000	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1568T																					ENST00000302754.4:c.415T>A	p.Phe139Ile	p.F139I	ENST00000302754	NM_002229.2	139	Ttt/Att	0	not done		probablydamaging	
JUNB		inserm.fr	GRCh37	19	12903193	12903193	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1185T																					ENST00000302754.4:c.608G>A	p.Gly203Glu	p.G203E	ENST00000302754	NM_002229.2	203	gGg/gAg	0	not done		probablydamaging	
ELAC2		inserm.fr	GRCh37	17	12906855	12906855	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000338034.4:c.1020G>T	p.Val340=	p.V340=	ENST00000338034	NM_018127.6	340	gtG/gtT	0	not done		synonymous	
HS6ST1		inserm.fr	GRCh37	2	129075939	129075939	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC121T																					ENST00000259241.6:c.199A>T	p.Lys67Ter	p.K67*	ENST00000259241	NM_004807.2	67	Aag/Tag	0	validated		damaging	
TMEM132C		inserm.fr	GRCh37	12	129100787	129100787	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000435159.2:c.1212G>A	p.Gln404=	p.Q404=	ENST00000435159	NM_001136103.2	404	caG/caA	0	not done		synonymous	
STRIP2		inserm.fr	GRCh37	7	129125655	129125655	+	synonymous_variant	Silent	SNP	G	A	A			CHC1597T																					ENST00000249344.2:c.2490G>A	p.Leu830=	p.L830=	ENST00000249344	NM_020704.2	830	ctG/ctA	0	not done		synonymous	
LARP1B		inserm.fr	GRCh37	4	129131125	129131125	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T																					ENST00000326639.6:c.2662C>A	p.Pro888Thr	p.P888T	ENST00000326639	NM_018078.3	888	Cct/Act	0	validated		probablydamaging	
BCORL1		inserm.fr	GRCh37	X	129148169	129148169	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1182T																					ENST00000540052.1:c.1421C>A	p.Ser474Tyr	p.S474Y	ENST00000540052	NM_021946.4	474	tCc/tAc	0	not done		probablydamaging	
IFT122		inserm.fr	GRCh37	3	129168763	129168763	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1545T																					ENST00000296266.3:c.91G>A	p.Ala31Thr	p.A31T	ENST00000296266	NM_052985.3	31	Gcc/Acc	0	not done		possiblydamaging	
BCORL1		inserm.fr	GRCh37	X	129173174	129173174	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000540052.1:c.4535G>A	p.Gly1512Glu	p.G1512E	ENST00000540052	NM_021946.4	1512	gGg/gAg	0	not done		probablydamaging	
BCORL1		inserm.fr	GRCh37	X	129173246	129173246	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000540052.1:c.4607G>A	p.Arg1536His	p.R1536H	ENST00000540052	NM_021946.4	1536	cGc/cAc	0	not done		possiblydamaging	
TMEM132C		inserm.fr	GRCh37	12	129178548	129178548	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000435159.2:c.1624G>A	p.Gly542Ser	p.G542S	ENST00000435159	NM_001136103.2	542	Ggc/Agc	0	not done		probablydamaging	
TMEM132C		inserm.fr	GRCh37	12	129189937	129189937	+	synonymous_variant	Silent	SNP	C	A	A			CHC2115T																					ENST00000435159.2:c.2424C>A	p.Pro808=	p.P808=	ENST00000435159	NM_001136103.2	808	ccC/ccA	0	not done		synonymous	
TMEM132C		inserm.fr	GRCh37	12	129189983	129189983	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC805T																					ENST00000435159.2:c.2470C>A	p.Arg824Ser	p.R824S	ENST00000435159	NM_001136103.2	824	Cgc/Agc	0	not done		probablydamaging	
TMEM132C		inserm.fr	GRCh37	12	129190613	129190613	+	synonymous_variant	Silent	SNP	C	A	A			CHC1154T																					ENST00000435159.2:c.3100C>A	p.Arg1034=	p.R1034=	ENST00000435159	NM_001136103.2	1034	Cgg/Agg	0	not done		synonymous	
ELF4		inserm.fr	GRCh37	X	129205085	129205085	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC302T									Valid												ENST00000308167.5:c.739G>T	p.Val247Leu	p.V247L	ENST00000308167	NM_001421.3	247	Gtg/Ttg	0	validated		probablydamaging	
CHSY3		inserm.fr	GRCh37	5	129240540	129240540	+	synonymous_variant	Silent	SNP	C	A	A			CHC1055T																					ENST00000305031.4:c.18C>A	p.Arg6=	p.R6=	ENST00000305031	NM_175856.4	6	cgC/cgA	0	validated		synonymous	
CHSY3		inserm.fr	GRCh37	5	129241031	129241031	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2052T																					ENST00000305031.4:c.509G>A	p.Arg170Gln	p.R170Q	ENST00000305031	NM_175856.4	170	cGg/cAg	0	not done		benign	
AIFM1		inserm.fr	GRCh37	X	129267388	129267388	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC433T									Valid												ENST00000287295.3:c.1348A>T	p.Arg450Trp	p.R450W	ENST00000287295	NM_004208.3	450	Agg/Tgg	0	validated		probablydamaging	
H1FOO		inserm.fr	GRCh37	3	129269994	129269994	+	synonymous_variant	Silent	SNP	C	A	A			BCM275T																					ENST00000324382.2:c.852C>A	p.Ala284=	p.A284=	ENST00000324382	NM_153833.1	284	gcC/gcA	0	validated		synonymous	
PLXND1		inserm.fr	GRCh37	3	129289690	129289690	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000324093.4:c.3689G>T	p.Arg1230Ile	p.R1230I	ENST00000324093	NM_015103.2	1230	aGa/aTa	0	not done		probablydamaging	
PLXND1		inserm.fr	GRCh37	3	129292568	129292568	+	synonymous_variant	Silent	SNP	C	A	A			CHC798T																					ENST00000324093.4:c.2706G>T	p.Pro902=	p.P902=	ENST00000324093	NM_015103.2	902	ccG/ccT	0	validated		synonymous	
SLC15A4		inserm.fr	GRCh37	12	129308102	129308102	+	synonymous_variant	Silent	SNP	T	A	A			CHC451T																					ENST00000266771.5:c.387A>T	p.Arg129=	p.R129=	ENST00000266771	NM_145648.3	129	cgA/cgT	0	not done		synonymous	
GLT1D1		inserm.fr	GRCh37	12	129360589	129360589	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000281703.6:c.199G>A	p.Gly67Arg	p.G67R	ENST00000281703	NM_144669.1	67	Gga/Aga	0	not done		possiblydamaging	
RTBDN		inserm.fr	GRCh37	19	12937598	12937598	+	splice_acceptor_variant,non_coding_transcript_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000588469.1:n.203-1G>A		p.X68_splice	ENST00000588469				0	not done		synonymous	
ZNF280C		inserm.fr	GRCh37	X	129377602	129377602	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370978.4:c.316C>T	p.Pro106Ser	p.P106S	ENST00000370978	NM_017666.4	106	Cct/Tct	0	not done		benign	
TLR8		inserm.fr	GRCh37	X	12937970	12937970	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2048T																					ENST00000218032.6:c.811G>A	p.Asp271Asn	p.D271N	ENST00000218032	NM_138636.4	271	Gat/Aat	0	not done		benign	
APOLD1		inserm.fr	GRCh37	12	12939989	12939989	+	synonymous_variant	Silent	SNP	G	A	A			CHC909T																					ENST00000326765.6:c.243G>A	p.Arg81=	p.R81=	ENST00000326765	NM_001130415.1	81	agG/agA	0	not done		synonymous	
CCDC3		inserm.fr	GRCh37	10	12940424	12940424	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC923T																					ENST00000378825.3:c.805C>T	p.Arg269Trp	p.R269W	ENST00000378825	NM_031455.3	269	Cgg/Tgg	0	not done		benign	
IQSEC1		inserm.fr	GRCh37	3	12942916	12942916	+	intron_variant	Intron	SNP	G	A	A			CHC1079T																					ENST00000273221.4:c.2847+1357C>T		*949*	ENST00000273221	NM_014869.5			0	not done		probablydamaging	
LMX1B		inserm.fr	GRCh37	9	129453181	129453181	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000355497.5:c.393G>A	p.Ala131=	p.A131=	ENST00000355497	NM_001174146.1	131	gcG/gcA	0	not done		synonymous	
LMX1B		inserm.fr	GRCh37	9	129455510	129455510	+	synonymous_variant	Silent	SNP	C	A	A			CHC1061T																					ENST00000355497.5:c.649C>A	p.Arg217=	p.R217=	ENST00000355497	NM_001174146.1	217	Cgg/Agg	0	validated		synonymous	
DLC1		inserm.fr	GRCh37	8	12947929	12947929	+	synonymous_variant	Silent	SNP	C	A	A			CHC892T																					ENST00000276297.4:c.3906G>T	p.Leu1302=	p.L1302=	ENST00000276297	NM_182643.2	1302	ctG/ctT	0	not done		synonymous	
SLC25A14		inserm.fr	GRCh37	X	129484661	129484661	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000218197.5:c.454G>A	p.Gly152Arg	p.G152R	ENST00000218197	NM_022810.1	152	Gga/Aga	0	not done		possiblydamaging	
TERT		inserm.fr	GRCh37	5	1294963	1294963	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM683T																					ENST00000310581.5:c.142C>T	p.Arg48Cys	p.R48C	ENST00000310581	NM_198253.2	48	Cgc/Tgc	0	validated		probablydamaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1065T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1180T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1531T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1603T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1715T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1745T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC197T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC306T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC429T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC798T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC917T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCB231T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC2110Tbis									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC2362T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCM489T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCM695T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC097T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1041T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1044T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1052T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1053T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1055T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1079T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1097T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1098T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1137T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1148T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1152T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1154T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1183T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1186T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1205T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1207T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1209T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC121T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1530T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1539T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1545T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC155T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1566T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1596T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1600T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1601T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1604T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1616T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1624T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1626T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1708T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1712T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1714T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1720T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1725T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1732T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1737T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1739T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1741T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1742T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1747T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1749T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1750T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1754T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1756T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1757T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1763T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC205T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC218T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC2321T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC253T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC301T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC302T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC304T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC307T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC314T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC320T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC322T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC326T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC327T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC361TA									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC432T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC433T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC437T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC451T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC609T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC703T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC796T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC799T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC801T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC805T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC884T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC891T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC898T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC909T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC923T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC961T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1775T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCB109T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1085T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCB111T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCB157T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCB307T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCB325T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC2029T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC2034T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC2052T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC2098T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC2099T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC2113T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC2115T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC2127T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC2215T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC2351T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC2352T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC2358T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCM269T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCM325T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCM329T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCM375T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCM397T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCM399T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCM439T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCM529T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCM531T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCM543T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCM545T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCM565T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCM567T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCM617T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCM703T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCM735T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCM739T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			BCM791T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC892T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295250	1295250	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1743T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295250	1295250	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1091T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295250	1295250	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1534T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295250	1295250	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1753T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295250	1295250	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC469T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
MAST1		inserm.fr	GRCh37	19	12954343	12954343	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000251472.4:c.249G>A	p.Arg83=	p.R83=	ENST00000251472	NM_014975.2	83	agG/agA	0	not done		damaging	
TMEM132D		inserm.fr	GRCh37	12	129559556	129559556	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000422113.2:c.2164C>T	p.Pro722Ser	p.P722S	ENST00000422113	NM_133448.2	722	Ccc/Tcc	0	not done		probablydamaging	
LAMA2		inserm.fr	GRCh37	6	129609089	129609089	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2115T																					ENST00000421865.2:c.2635T>A	p.Cys879Ser	p.C879S	ENST00000421865	NM_001079823.1	879	Tgt/Agt	0	not done		probablydamaging	
LAMA2		inserm.fr	GRCh37	6	129637202	129637202	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000421865.2:c.3944G>A	p.Gly1315Glu	p.G1315E	ENST00000421865	NM_001079823.1	1315	gGg/gAg	0	not done		possiblydamaging	
ZBTB34		inserm.fr	GRCh37	9	129642262	129642262	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1191T																					ENST00000373452.2:c.572G>A	p.Arg191His	p.R191H	ENST00000373452		191	cGc/cAc	0	not done		probablydamaging	
TRH		inserm.fr	GRCh37	3	129696018	129696018	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC884T																					ENST00000302649.3:c.688G>A	p.Gly230Ser	p.G230S	ENST00000302649	NM_007117.4	230	Ggt/Agt	0	validated		probablydamaging	
KLHDC10		inserm.fr	GRCh37	7	129736848	129736848	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC320T									Valid												ENST00000335420.5:c.253+1G>A		p.X85_splice	ENST00000335420	NM_014997.3			0	validated		damaging	
NFRKB		inserm.fr	GRCh37	11	129739591	129739591	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB111T									Valid												ENST00000524794.1:c.3404A>T	p.His1135Leu	p.H1135L	ENST00000524794		1135	cAc/cTc	0	validated		possiblydamaging	
NFRKB		inserm.fr	GRCh37	11	129746710	129746710	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1725T																					ENST00000524794.1:c.1728G>T	p.Lys576Asn	p.K576N	ENST00000524794		576	aaG/aaT	0	not done		probablydamaging	
NFRKB		inserm.fr	GRCh37	11	129752020	129752020	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB167T																					ENST00000524794.1:c.1227A>T	p.Leu409Phe	p.L409F	ENST00000524794		409	ttA/ttT	0	validated		probablydamaging	
KLHDC10		inserm.fr	GRCh37	7	129764316	129764316	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000335420.5:c.805G>A	p.Gly269Arg	p.G269R	ENST00000335420	NM_014997.3	269	Ggg/Agg	0	not done		probablydamaging	
IQSEC1		inserm.fr	GRCh37	3	12977246	12977246	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM423T																					ENST00000273221.4:c.1312C>T	p.Arg438Trp	p.R438W	ENST00000273221	NM_014869.5	438	Cgg/Tgg	0	validated		probablydamaging	
PTPRE		inserm.fr	GRCh37	10	129845679	129845679	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000254667.3:c.135G>A	p.Gln45=	p.Q45=	ENST00000254667	NM_006504.4	45	caG/caA	0	not done		synonymous	
ANGPTL2		inserm.fr	GRCh37	9	129870355	129870355	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373425.3:c.656C>T	p.Ala219Val	p.A219V	ENST00000373425	NM_012098.2	219	gCt/gTt	0	not done		benign	
SCLT1		inserm.fr	GRCh37	4	129878219	129878219	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM375T									Valid												ENST00000281142.5:c.1108C>T	p.Arg370Trp	p.R370W	ENST00000281142	NM_144643.2	370	Cgg/Tgg	0	validated		probablydamaging	
MKI67		inserm.fr	GRCh37	10	129905283	129905283	+	synonymous_variant	Silent	SNP	G	A	A			CHC1744T																					ENST00000368654.3:c.4821C>T	p.Asn1607=	p.N1607=	ENST00000368654	NM_002417.4	1607	aaC/aaT	0	not done		synonymous	
MKI67		inserm.fr	GRCh37	10	129906593	129906593	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2351T																					ENST00000368654.3:c.3511G>T	p.Gly1171Trp	p.G1171W	ENST00000368654	NM_002417.4	1171	Ggg/Tgg	0	not done		probablydamaging	
MKI67		inserm.fr	GRCh37	10	129908704	129908704	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM703T									Valid												ENST00000368654.3:c.2354G>T	p.Gly785Val	p.G785V	ENST00000368654	NM_002417.4	785	gGa/gTa	0	validated		probablydamaging	
MKI67		inserm.fr	GRCh37	10	129913293	129913293	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1534T																					ENST00000368654.3:c.1379C>T	p.Ser460Phe	p.S460F	ENST00000368654	NM_002417.4	460	tCc/tTc	0	validated		probablydamaging	
CPA4		inserm.fr	GRCh37	7	129933071	129933071	+	synonymous_variant	Silent	SNP	C	A	A			CHC1629T																					ENST00000222482.4:c.51C>A	p.Gly17=	p.G17=	ENST00000222482	NM_016352.3	17	ggC/ggA	0	not done		synonymous	
ARHGAP18		inserm.fr	GRCh37	6	129963025	129963025	+	synonymous_variant	Silent	SNP	G	A	A			CHC1035T																					ENST00000368149.2:c.252C>T	p.Asn84=	p.N84=	ENST00000368149	NM_033515.2	84	aaC/aaT	0	validated		synonymous	
KLF1		inserm.fr	GRCh37	19	12996898	12996898	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1745T																					ENST00000264834.4:c.146C>T	p.Pro49Leu	p.P49L	ENST00000264834	NM_006563.3	49	cCg/cTg	0	not done		benign	
CPA5		inserm.fr	GRCh37	7	129999481	129999481	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000485477.1:c.385C>A	p.Arg129Ser	p.R129S	ENST00000485477		129	Cgc/Agc	0	not done		benign	
CPA1		inserm.fr	GRCh37	7	130027690	130027690	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB301T																					ENST00000011292.3:c.1098C>A	p.Asp366Glu	p.D366E	ENST00000011292	NM_001868.2	366	gaC/gaA	0	validated		probablydamaging	
GCDH		inserm.fr	GRCh37	19	13007105	13007105	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000222214.5:c.722G>A	p.Gly241Glu	p.G241E	ENST00000222214	NM_000159.3	241	gGg/gAg	0	not done		benign	
GARNL3		inserm.fr	GRCh37	9	130107740	130107740	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373387.4:c.1415G>A	p.Gly472Glu	p.G472E	ENST00000373387	NM_032293.4	472	gGg/gAg	0	not done		probablydamaging	
COL6A5		inserm.fr	GRCh37	3	130116688	130116688	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000265379.6:c.3830G>A	p.Ser1277Asn	p.S1277N	ENST00000265379	NM_001278298.1	1277	aGt/aAt	0	not done		benign	
COL6A5		inserm.fr	GRCh37	3	130125008	130125008	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM711T																					ENST00000265379.6:c.4414G>A	p.Asp1472Asn	p.D1472N	ENST00000265379	NM_001278298.1	1472	Gat/Aat	0	validated		benign	
COL6A5		inserm.fr	GRCh37	3	130128914	130128914	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000265379.6:c.4604G>A	p.Arg1535Lys	p.R1535K	ENST00000265379	NM_001278298.1	1535	aGa/aAa	0	not done		benign	
COL6A5		inserm.fr	GRCh37	3	130134497	130134497	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000265379.6:c.4770G>A	p.Gln1590=	p.Q1590=	ENST00000265379	NM_001278298.1	1590	caG/caA	0	not done		synonymous	
COL6A5		inserm.fr	GRCh37	3	130150446	130150446	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC923T																					ENST00000265379.6:c.5386C>A	p.Pro1796Thr	p.P1796T	ENST00000265379	NM_001278298.1	1796	Cct/Act	0	not done		possiblydamaging	
TMEM132D		inserm.fr	GRCh37	12	130184687	130184687	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM501T									Valid												ENST00000422113.2:c.636G>T	p.Arg212Ser	p.R212S	ENST00000422113	NM_133448.2	212	agG/agT	0	validated		probablydamaging	
COL6A5		inserm.fr	GRCh37	3	130187639	130187639	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1191T																					ENST00000265379.6:c.6791G>A	p.Gly2264Glu	p.G2264E	ENST00000265379	NM_001278298.1	2264	gGa/gAa	0	not done		damaging	
CEP192		inserm.fr	GRCh37	18	13019123	13019123	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1742T																					ENST00000506447.1:c.968G>A	p.Gly323Asp	p.G323D	ENST00000506447	NM_032142.3	323	gGt/gAt	0	not done		benign	
ARHGAP36		inserm.fr	GRCh37	X	130219921	130219921	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM423T																					ENST00000276211.5:c.1139C>A	p.Ala380Asp	p.A380D	ENST00000276211	NM_144967.3	380	gCc/gAc	0	validated		probablydamaging	
ARHGAP36		inserm.fr	GRCh37	X	130220603	130220603	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000276211.5:c.1450G>A	p.Ala484Thr	p.A484T	ENST00000276211	NM_144967.3	484	Gct/Act	0	not done		probablydamaging	
LRSAM1		inserm.fr	GRCh37	9	130241744	130241744	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000323301.4:c.863G>A	p.Ser288Asn	p.S288N	ENST00000323301	NM_138361.5	288	aGc/aAc	0	not done		possiblydamaging	
LRSAM1		inserm.fr	GRCh37	9	130242257	130242257	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000323301.4:c.1043G>A	p.Arg348Lys	p.R348K	ENST00000323301	NM_138361.5	348	aGa/aAa	0	not done		benign	
RP11-121M22.1		inserm.fr	GRCh37	11	130270953	130270953	+	downstream_gene_variant	3'Flank	SNP	G	A	A			CHC892T																								ENST00000257359	NM_007037.4			0	not done		damaging	
FAM129B		inserm.fr	GRCh37	9	130271327	130271327	+	synonymous_variant	Silent	SNP	G	A	A			CHC614T																					ENST00000373312.3:c.1245C>T	p.Asp415=	p.D415=	ENST00000373312	NM_022833.2	415	gaC/gaT	0	validated		synonymous	
COL6A6		inserm.fr	GRCh37	3	130287399	130287399	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000358511.6:c.2352G>A	p.Leu784=	p.L784=	ENST00000358511	NM_001102608.1	784	ctG/ctA	0	not done		synonymous	
SPTLC3		inserm.fr	GRCh37	20	13029705	13029705	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1616T																					ENST00000399002.2:c.230G>A	p.Gly77Asp	p.G77D	ENST00000399002	NM_018327.2	77	gGc/gAc	0	not done		probablydamaging	
ADAMTS15		inserm.fr	GRCh37	11	130319597	130319597	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000299164.2:c.729G>A	p.Leu243=	p.L243=	ENST00000299164	NM_139055.2	243	ctG/ctA	0	not done		synonymous	
FARSA		inserm.fr	GRCh37	19	13033661	13033661	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1041T																					ENST00000314606.4:c.1428G>T	p.Glu476Asp	p.E476D	ENST00000314606	NM_004461.2	476	gaG/gaT	0	validated		benign	
ADAMTS15		inserm.fr	GRCh37	11	130343277	130343277	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2141T																					ENST00000299164.2:c.2414G>A	p.Arg805Gln	p.R805Q	ENST00000299164	NM_139055.2	805	cGg/cAg	0	not done		benign	
TTC16		inserm.fr	GRCh37	9	130479224	130479224	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000373289.3:c.120C>A	p.His40Gln	p.H40Q	ENST00000373289	NM_144965.1	40	caC/caA	0	not done		benign	
TTC16		inserm.fr	GRCh37	9	130479265	130479265	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1616T																					ENST00000373289.3:c.161G>A	p.Gly54Glu	p.G54E	ENST00000373289	NM_144965.1	54	gGg/gAg	0	not done		possiblydamaging	
LYRM7		inserm.fr	GRCh37	5	130522781	130522781	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1539T																					ENST00000379380.4:c.223C>A	p.His75Asn	p.H75N	ENST00000379380	NM_181705.2	75	Cac/Aac	0	validated		possiblydamaging	
GSDMC		inserm.fr	GRCh37	8	130762769	130762769	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000276708.4:c.991G>T	p.Ala331Ser	p.A331S	ENST00000276708	NM_031415.2	331	Gct/Tct	0	not done		probablydamaging	
TMEM200A		inserm.fr	GRCh37	6	130762837	130762837	+	synonymous_variant	Silent	SNP	C	A	A			CHC1725T																					ENST00000392429.1:c.1270C>A	p.Arg424=	p.R424=	ENST00000392429	NM_052913.2	424	Cgg/Agg	0	not done		synonymous	
SNX19		inserm.fr	GRCh37	11	130785537	130785537	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000265909.4:c.298C>T	p.Arg100Trp	p.R100W	ENST00000265909	NM_014758.2	100	Cgg/Tgg	0	validated		benign	
PIWIL1		inserm.fr	GRCh37	12	130846146	130846146	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC896T																					ENST00000245255.3:c.1970G>A	p.Arg657His	p.R657H	ENST00000245255	NM_004764.4	657	cGc/cAc	0	not done		probablydamaging	
PTGES2		inserm.fr	GRCh37	9	130885301	130885301	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1152T																					ENST00000338961.6:c.799G>T	p.Glu267Ter	p.E267*	ENST00000338961	NM_025072.6	267	Gag/Tag	0	validated		damaging	
PTGES2		inserm.fr	GRCh37	9	130886079	130886079	+	synonymous_variant	Silent	SNP	G	A	A			CHC1205T																					ENST00000338961.6:c.588C>T	p.Asn196=	p.N196=	ENST00000338961	NM_025072.6	196	aaC/aaT	0	not done		synonymous	
NEK11		inserm.fr	GRCh37	3	130889722	130889722	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000383366.4:c.1390G>A	p.Gly464Arg	p.G464R	ENST00000383366	NM_024800.4	464	Gga/Aga	0	not done		benign	
RIMBP2		inserm.fr	GRCh37	12	130892318	130892318	+	synonymous_variant	Silent	SNP	G	A	A			CHC1743T																					ENST00000261655.4:c.2878C>T	p.Leu960=	p.L960=	ENST00000261655	NM_015347.4	960	Ctg/Ttg	0	not done		synonymous	
CCDC74B		inserm.fr	GRCh37	2	130898785	130898785	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000310463.6:c.629C>T	p.Pro210Leu	p.P210L	ENST00000310463	NM_207310.2	210	cCc/cTc	0	not done		possiblydamaging	
SMPD4		inserm.fr	GRCh37	2	130910178	130910178	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000409031.1:c.2551G>T	p.Ala851Ser	p.A851S	ENST00000409031	NM_017951.4	851	Gcc/Tcc	0	not done		probablydamaging	
RIMBP2		inserm.fr	GRCh37	12	130926668	130926668	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000261655.4:c.1178C>T	p.Ala393Val	p.A393V	ENST00000261655	NM_015347.4	393	gCc/gTc	0	not done		probablydamaging	
RIMBP2		inserm.fr	GRCh37	12	130941116	130941116	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000261655.4:c.232C>T	p.Pro78Ser	p.P78S	ENST00000261655	NM_015347.4	78	Ccc/Tcc	0	not done		benign	
DNM1		inserm.fr	GRCh37	9	130965893	130965893	+	synonymous_variant	Silent	SNP	C	A	A			CHC1035T																					ENST00000372923.3:c.144C>A	p.Leu48=	p.L48=	ENST00000372923	NM_004408.2	48	ctC/ctA	0	validated		synonymous	
TOLLIP		inserm.fr	GRCh37	11	1309855	1309855	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000317204.6:c.518C>T	p.Ala173Val	p.A173V	ENST00000317204	NM_019009.3	173	gCg/gTg	0	validated		damaging	
DNM1		inserm.fr	GRCh37	9	130996323	130996323	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000372923.3:c.1359G>A	p.Arg453=	p.R453=	ENST00000372923	NM_004408.2	453	cgG/cgA	0	not done		synonymous	
GOLGA2		inserm.fr	GRCh37	9	131022770	131022770	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1597T																					ENST00000421699.2:c.1651G>T	p.Glu551Ter	p.E551*	ENST00000421699	NM_004486.4	551	Gag/Tag	0	not done		damaging	
GPRC5D		inserm.fr	GRCh37	12	13102445	13102445	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1568T																					ENST00000228887.1:c.874G>T	p.Glu292Ter	p.E292*	ENST00000228887	NM_018654.1	292	Gag/Tag	0	not done		damaging	
CERCAM		inserm.fr	GRCh37	9	131186826	131186826	+	synonymous_variant	Silent	SNP	G	A	A			BCM617T																					ENST00000372838.4:c.699G>A	p.Pro233=	p.P233=	ENST00000372838	NM_016174.4	233	ccG/ccA	0	validated		synonymous	
ODF2		inserm.fr	GRCh37	9	131222885	131222885	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000434106.3:c.124-336G>A		*42*	ENST00000434106	NM_153433.1			0	not done		synonymous	
ODF2		inserm.fr	GRCh37	9	131256866	131256866	+	synonymous_variant	Silent	SNP	G	A	A			CHC1616T																					ENST00000434106.3:c.1830G>A	p.Leu610=	p.L610=	ENST00000434106	NM_153433.1	610	ctG/ctA	0	not done		synonymous	
CPNE4		inserm.fr	GRCh37	3	131274372	131274372	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T									Valid												ENST00000512055.1:c.1085G>T	p.Gly362Val	p.G362V	ENST00000512055		362	gGg/gTg	0	validated		probablydamaging	
STX2		inserm.fr	GRCh37	12	131291550	131291550	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000392373.2:c.440G>T	p.Arg147Leu	p.R147L	ENST00000392373	NM_194356.2	147	cGc/cTc	0	not done		probablydamaging	
ADARB2		inserm.fr	GRCh37	10	1313187	1313187	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000381312.1:c.1155C>T	p.Ala385=	p.A385=	ENST00000381312	NM_018702.3	385	gcC/gcT	0	not done		synonymous	
RAN		inserm.fr	GRCh37	12	131360300	131360300	+	synonymous_variant	Silent	SNP	G	A	A			BCB111T																					ENST00000543796.1:c.579G>A	p.Leu193=	p.L193=	ENST00000543796		193	ttG/ttA	0	validated		synonymous	
SPTAN1		inserm.fr	GRCh37	9	131367421	131367421	+	synonymous_variant	Silent	SNP	G	A	A			BCM739T																					ENST00000372739.3:c.3828G>A	p.Glu1276=	p.E1276=	ENST00000372739	NM_001130438.2	1276	gaG/gaA	0	validated		synonymous	
GPR133		inserm.fr	GRCh37	12	131498749	131498749	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1205T																					ENST00000261654.5:c.1337C>A	p.Ala446Glu	p.A446E	ENST00000261654	NM_198827.3	446	gCg/gAg	0	validated		benign	
AMER3		inserm.fr	GRCh37	2	131520088	131520088	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1774T																					ENST00000423981.1:c.443G>A	p.Arg148Lys	p.R148K	ENST00000423981	NM_001105194.1	148	aGg/aAg	0	validated		possiblydamaging	
AMER3		inserm.fr	GRCh37	2	131521802	131521802	+	synonymous_variant	Silent	SNP	G	A	A			BCB231T																					ENST00000423981.1:c.2157G>A	p.Gln719=	p.Q719=	ENST00000423981	NM_001105194.1	719	caG/caA	0	validated		synonymous	
TBC1D13		inserm.fr	GRCh37	9	131566311	131566311	+	synonymous_variant	Silent	SNP	G	A	A			CHC1616T																					ENST00000372648.5:c.831G>A	p.Leu277=	p.L277=	ENST00000372648	NM_018201.3	277	ctG/ctA	0	not done		synonymous	
ENDOG		inserm.fr	GRCh37	9	131584790	131584790	+	synonymous_variant	Silent	SNP	G	A	A			CHC1052T																					ENST00000372642.4:c.795G>A	p.Val265=	p.V265=	ENST00000372642	NM_004435.2	265	gtG/gtA	0	validated		synonymous	
EBF3		inserm.fr	GRCh37	10	131640395	131640395	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC2115T																					ENST00000368648.3:c.1330C>T	p.Gln444Ter	p.Q444*	ENST00000368648	NM_001005463.2	444	Caa/Taa	0	not done		damaging	
EBF3		inserm.fr	GRCh37	10	131666058	131666058	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1738T																					ENST00000368648.3:c.873G>T	p.Leu291Phe	p.L291F	ENST00000368648	NM_001005463.2	291	ttG/ttT	0	not done		possiblydamaging	
SLC22A4		inserm.fr	GRCh37	5	131670557	131670557	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1040T																					ENST00000200652.3:c.1193G>A	p.Arg398His	p.R398H	ENST00000200652	NM_003059.2	398	cGt/cAt	0	not done		probablydamaging	
ARHGEF4		inserm.fr	GRCh37	2	131674941	131674941	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000326016.5:c.-108-29G>A		*36*	ENST00000326016	NM_015320.3			0	not done			
DOLK		inserm.fr	GRCh37	9	131709325	131709325	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1731T																					ENST00000372586.3:c.258G>T	p.Met86Ile	p.M86I	ENST00000372586	NM_014908.3	86	atG/atT	0	not done		probablydamaging	
DOLK		inserm.fr	GRCh37	9	131709345	131709345	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC097T																					ENST00000372586.3:c.238G>T	p.Gly80Cys	p.G80C	ENST00000372586	NM_014908.3	80	Ggc/Tgc	0	not done		probablydamaging	
EBF3		inserm.fr	GRCh37	10	131760446	131760446	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1568T																					ENST00000368648.3:c.400A>T	p.Met134Leu	p.M134L	ENST00000368648	NM_001005463.2	134	Atg/Ttg	0	not done		probablydamaging	
ADCY8		inserm.fr	GRCh37	8	131792865	131792865	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000286355.5:c.3527C>T	p.Pro1176Leu	p.P1176L	ENST00000286355	NM_001115.2	1176	cCc/cTc	0	not done		benign	
ADCY8		inserm.fr	GRCh37	8	131793034	131793034	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1191T																					ENST00000286355.5:c.3358C>T	p.Arg1120Ter	p.R1120*	ENST00000286355	NM_001115.2	1120	Cga/Tga	0	not done		damaging	
ARHGEF4		inserm.fr	GRCh37	2	131798908	131798908	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000326016.5:c.1210G>A	p.Ala404Thr	p.A404T	ENST00000326016	NM_015320.3	404	Gcc/Acc	0	not done		benign	
FAM73B		inserm.fr	GRCh37	9	131802879	131802879	+	synonymous_variant	Silent	SNP	G	A	A			CHC1763T																					ENST00000358369.4:c.6G>A	p.Ala2=	p.A2=	ENST00000358369	NM_032809.2	2	gcG/gcA	0	not done		synonymous	
PHACTR1		inserm.fr	GRCh37	6	13182849	13182849	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000332995.7:c.595C>A	p.Pro199Thr	p.P199T	ENST00000332995		199	Cca/Aca	0	not done		benign	
LOC440563		inserm.fr	GRCh37	1	13183571	13183571	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000449855.2:n.545C>T		*182*	ENST00000449855				0	not done		benign	
PLXNA4		inserm.fr	GRCh37	7	131853065	131853065	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC2029T																					ENST00000359827.3:c.4284G>T	p.Arg1428Ser	p.R1428S	ENST00000359827		1428	agG/agT	0	not done		probablydamaging	
PLXNA4		inserm.fr	GRCh37	7	131859653	131859653	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359827.3:c.3901C>T	p.His1301Tyr	p.H1301Y	ENST00000359827		1301	Cat/Tat	0	not done		possiblydamaging	
CRAT		inserm.fr	GRCh37	9	131860922	131860922	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000318080.2:c.1093C>T	p.Pro365Ser	p.P365S	ENST00000318080	NM_001257363.1	365	Ccc/Tcc	0	not done		benign	
PPP2R4		inserm.fr	GRCh37	9	131885378	131885378	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000393370.2:c.177G>A	p.Val59=	p.V59=	ENST00000393370	NM_178000.2	59	gtG/gtA	0	not done		synonymous	
PLXNA4		inserm.fr	GRCh37	7	131913221	131913221	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359827.3:c.1612C>T	p.Arg538Trp	p.R538W	ENST00000359827		538	Cgg/Tgg	0	not done		probablydamaging	
RAD50		inserm.fr	GRCh37	5	131976410	131976410	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1742T																					ENST00000265335.6:c.3665G>A	p.Cys1222Tyr	p.C1222Y	ENST00000265335		1222	tGc/tAc	0	not done		probablydamaging	
NTM		inserm.fr	GRCh37	11	132016398	132016398	+	synonymous_variant	Silent	SNP	C	A	A			BCB231T																					ENST00000425719.2:c.390C>A	p.Leu130=	p.L130=	ENST00000425719		130	ctC/ctA	0	validated		synonymous	
OR2A4		inserm.fr	GRCh37	6	132021834	132021834	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000315453.2:c.708C>T	p.Ala236=	p.A236=	ENST00000315453	NM_030908.1	236	gcC/gcT	0	not done		synonymous	
ADCY8		inserm.fr	GRCh37	8	132051649	132051649	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC961T																					ENST00000286355.5:c.931C>T	p.Pro311Ser	p.P311S	ENST00000286355	NM_001115.2	311	Ccc/Tcc	0	validated		benign	
PHACTR1		inserm.fr	GRCh37	6	13206083	13206083	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB109T																					ENST00000332995.7:c.701T>A	p.Val234Glu	p.V234E	ENST00000332995		234	gTg/gAg	0	validated		benign	
CCNI2		inserm.fr	GRCh37	5	132084129	132084129	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000378731.1:c.520G>A	p.Ala174Thr	p.A174T	ENST00000378731	NM_001039780.2	174	Gcc/Acc	0	not done		benign	
HS6ST2		inserm.fr	GRCh37	X	132092488	132092488	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000521489.1:c.143C>T	p.Ala48Val	p.A48V	ENST00000521489	NM_001077188.1	48	gCc/gTc	0	not done		probablydamaging	
SEPT8		inserm.fr	GRCh37	5	132096636	132096636	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1708T																					ENST00000378719.2:c.1144C>T	p.Arg382Cys	p.R382C	ENST00000378719	NM_001098811.1	382	Cgc/Tgc	0	not done		probablydamaging	
MCM10		inserm.fr	GRCh37	10	13213251	13213251	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2358T																					ENST00000484800.2:c.337G>A	p.Glu113Lys	p.E113K	ENST00000484800		113	Gaa/Aaa	0	validated		benign	
SOWAHA		inserm.fr	GRCh37	5	132149469	132149469	+	synonymous_variant	Silent	SNP	C	A	A			BCM783T																					ENST00000378693.2:c.156C>A	p.Ala52=	p.A52=	ENST00000378693	NM_175873.4	52	gcC/gcA	0	validated		synonymous	
SOWAHA		inserm.fr	GRCh37	5	132149593	132149593	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1725T																					ENST00000378693.2:c.280G>A	p.Gly94Ser	p.G94S	ENST00000378693	NM_175873.4	94	Ggc/Agc	0	not done		benign	
SHROOM1		inserm.fr	GRCh37	5	132161121	132161121	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC320T																					ENST00000378679.3:c.712C>T	p.Pro238Ser	p.P238S	ENST00000378679	NM_001172700.1	238	Ccg/Tcg	0	validated		benign	
PLXNA4		inserm.fr	GRCh37	7	132174203	132174203	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000359827.3:c.1219C>T	p.Leu407=	p.L407=	ENST00000359827		407	Ctg/Ttg	0	not done		synonymous	
GDF9		inserm.fr	GRCh37	5	132198244	132198244	+	synonymous_variant	Silent	SNP	G	A	A			BCM617T																					ENST00000378673.2:c.402C>T	p.Ile134=	p.I134=	ENST00000378673	NM_001288828.1	134	atC/atT	0	validated		synonymous	
ENPP1		inserm.fr	GRCh37	6	132201053	132201053	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000360971.2:c.1979G>A	p.Gly660Glu	p.G660E	ENST00000360971	NM_006208.2	660	gGa/gAa	0	not done		probablydamaging	
ENPP1		inserm.fr	GRCh37	6	132206150	132206150	+	synonymous_variant	Silent	SNP	T	A	A			CHC1534T																					ENST00000360971.2:c.2391T>A	p.Pro797=	p.P797=	ENST00000360971	NM_006208.2	797	ccT/ccA	0	validated		synonymous	
MPDZ		inserm.fr	GRCh37	9	13224537	13224537	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1725T																					ENST00000541718.1:c.229G>T	p.Val77Phe	p.V77F	ENST00000541718	NM_001261407.1	77	Gtt/Ttt	0	not done		benign	
SFSWAP		inserm.fr	GRCh37	12	132262686	132262686	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000541286.1:c.2219G>A	p.Arg740Lys	p.R740K	ENST00000541286	NM_001261411.1	740	aGg/aAg	0	not done		benign	
MMP17		inserm.fr	GRCh37	12	132328615	132328615	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000360564.1:c.957G>A	p.Arg319=	p.R319=	ENST00000360564	NM_016155.4	319	cgG/cgA	0	not done		synonymous	
MMP17		inserm.fr	GRCh37	12	132329855	132329855	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000360564.1:c.1065G>A	p.Trp355Ter	p.W355*	ENST00000360564	NM_016155.4	355	tgG/tgA	0	not done		damaging	
MMP17		inserm.fr	GRCh37	12	132335622	132335622	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000360564.1:c.1615G>A	p.Ala539Thr	p.A539T	ENST00000360564	NM_016155.4	539	Gca/Aca	0	not done		benign	
HSPA4		inserm.fr	GRCh37	5	132403187	132403187	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1154T																					ENST00000304858.2:c.244G>A	p.Ala82Thr	p.A82T	ENST00000304858	NM_002154.3	82	Gca/Aca	0	not done		benign	
ULK1		inserm.fr	GRCh37	12	132403191	132403191	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1757T																					ENST00000321867.4:c.2476G>A	p.Glu826Lys	p.E826K	ENST00000321867	NM_003565.2	826	Gag/Aag	0	not done		probablydamaging	
PUS1		inserm.fr	GRCh37	12	132425985	132425985	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000376649.3:c.693G>A	p.Gln231=	p.Q231=	ENST00000376649	NM_025215.5	231	caG/caA	0	not done		synonymous	
GPC4		inserm.fr	GRCh37	X	132445339	132445339	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1205T																					ENST00000370828.3:c.824G>T	p.Arg275Ile	p.R275I	ENST00000370828	NM_001448.2	275	aGa/aTa	0	not done		possiblydamaging	
GPC4		inserm.fr	GRCh37	X	132458302	132458302	+	synonymous_variant	Silent	SNP	C	A	A			CHC892T																					ENST00000370828.3:c.582G>T	p.Thr194=	p.T194=	ENST00000370828	NM_001448.2	194	acG/acT	0	not done		synonymous	
EP400		inserm.fr	GRCh37	12	132504697	132504697	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000389561.2:c.4381G>A	p.Ala1461Thr	p.A1461T	ENST00000389561	NM_015409.4	1461	Gct/Act	0	not done		benign	
PTGES		inserm.fr	GRCh37	9	132510951	132510951	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000340607.4:c.192C>T	p.Asp64=	p.D64=	ENST00000340607	NM_004878.4	64	gaC/gaT	0	not done		synonymous	
EP400		inserm.fr	GRCh37	12	132514581	132514581	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000389561.2:c.5632G>A	p.Gly1878Arg	p.G1878R	ENST00000389561	NM_015409.4	1878	Gga/Aga	0	not done		benign	
EP400		inserm.fr	GRCh37	12	132538097	132538097	+	synonymous_variant	Silent	SNP	G	A	A			CHC303T																					ENST00000389561.2:c.7683G>A	p.Ala2561=	p.A2561=	ENST00000389561	NM_015409.4	2561	gcG/gcA	0	validated		synonymous	
FSTL4		inserm.fr	GRCh37	5	132569119	132569119	+	synonymous_variant	Silent	SNP	C	A	A			CHC2029T																					ENST00000265342.7:c.1005G>T	p.Leu335=	p.L335=	ENST00000265342	NM_015082.1	335	ctG/ctT	0	not done		synonymous	
NOC4L		inserm.fr	GRCh37	12	132633395	132633395	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2043T																					ENST00000330579.1:c.856C>A	p.Gln286Lys	p.Q286K	ENST00000330579	NM_024078.1	286	Cag/Aag	0	validated		benign	
FNBP1		inserm.fr	GRCh37	9	132658215	132658215	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1186T																					ENST00000446176.2:c.1748A>T	p.Asp583Val	p.D583V	ENST00000446176	NM_015033.2	583	gAc/gTc	0	not done		probablydamaging	
PHACTR1		inserm.fr	GRCh37	6	13278533	13278533	+	intron_variant	Intron	SNP	G	A	A			CHC1044T																					ENST00000606214.1:c.*40-10466C>T		*14*	ENST00000606214				0	not done		probablydamaging	
PHACTR1		inserm.fr	GRCh37	6	13283751	13283751	+	intron_variant,non_coding_transcript_variant	Intron	SNP	G	A	A			BCM723T																					ENST00000606150.1:n.319-1966C>T		*107*	ENST00000606150				0	validated		probablydamaging	
GPR107		inserm.fr	GRCh37	9	132866759	132866759	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000372406.1:c.1192G>A	p.Gly398Ser	p.G398S	ENST00000372406	NM_001136557.1	398	Ggc/Agc	0	not done		benign	
GPC3		inserm.fr	GRCh37	X	132887676	132887676	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1732T																					ENST00000394299.2:c.865G>T	p.Val289Leu	p.V289L	ENST00000394299	NM_001164617.1	289	Gtg/Ttg	0	not done		benign	
GPC3		inserm.fr	GRCh37	X	132887844	132887844	+	synonymous_variant	Silent	SNP	G	A	A			CHC2115T																					ENST00000394299.2:c.697C>T	p.Leu233=	p.L233=	ENST00000394299	NM_001164617.1	233	Ctg/Ttg	0	not done		synonymous	
TAAR6		inserm.fr	GRCh37	6	132891657	132891657	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC051T									Valid												ENST00000275198.1:c.197C>A	p.Pro66Gln	p.P66Q	ENST00000275198	NM_175067.1	66	cCg/cAg	0	validated		probablydamaging	
TAAR1		inserm.fr	GRCh37	6	132966840	132966840	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000275216.1:c.303C>T	p.Ser101=	p.S101=	ENST00000275216	NM_138327.1	101	agC/agT	0	not done		synonymous	
OC90		inserm.fr	GRCh37	8	133049719	133049719	+	synonymous_variant	Silent	SNP	G	A	A			CHC1154T																					ENST00000254627.3:c.645C>T	p.Pro215=	p.P215=	ENST00000254627	NM_001080399.2	215	ccC/ccT	0	not done		synonymous	
HHLA1		inserm.fr	GRCh37	8	133089997	133089997	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000434736.2:c.1255C>T	p.Pro419Ser	p.P419S	ENST00000434736		419	Cca/Tca	0	not done		benign	
TMEM108		inserm.fr	GRCh37	3	133098716	133098716	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC805T																					ENST00000321871.6:c.161C>A	p.Pro54His	p.P54H	ENST00000321871	NM_001136469.1	54	cCc/cAc	0	not done		probablydamaging	
TMEM108		inserm.fr	GRCh37	3	133099032	133099032	+	synonymous_variant	Silent	SNP	C	A	A			CHC051T																					ENST00000321871.6:c.477C>A	p.Arg159=	p.R159=	ENST00000321871	NM_001136469.1	159	cgC/cgA	0	validated		synonymous	
TMEM108		inserm.fr	GRCh37	3	133099224	133099224	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1741T																					ENST00000321871.6:c.669C>A	p.Asn223Lys	p.N223K	ENST00000321871	NM_001136469.1	223	aaC/aaA	0	not done		probablydamaging	
KCNQ3		inserm.fr	GRCh37	8	133146605	133146605	+	synonymous_variant	Silent	SNP	G	A	A			CHC1600T																					ENST00000388996.4:c.1731C>T	p.Pro577=	p.P577=	ENST00000388996	NM_004519.3	577	ccC/ccT	0	not done		synonymous	
LRCOL1		inserm.fr	GRCh37	12	133180942	133180942	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC1720T																					ENST00000545517.1:n.580C>T		*194*	ENST00000545517				0	not done		synonymous	
BFSP2		inserm.fr	GRCh37	3	133191268	133191268	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1556T																					ENST00000302334.2:c.1103G>A	p.Gly368Asp	p.G368D	ENST00000302334	NM_003571.2	368	gGc/gAc	0	not done		benign	
POLE		inserm.fr	GRCh37	12	133240590	133240590	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC2103T																					ENST00000320574.5:c.2706G>T	p.Lys902Asn	p.K902N	ENST00000320574	NM_006231.2	902	aaG/aaT	0	not done		damaging	
POLE		inserm.fr	GRCh37	12	133244204	133244204	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC432T																					ENST00000320574.5:c.2204A>T	p.His735Leu	p.H735L	ENST00000320574	NM_006231.2	735	cAc/cTc	0	not done		probablydamaging	
POLE		inserm.fr	GRCh37	12	133249836	133249836	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1708T																					ENST00000320574.5:c.1387G>T	p.Ala463Ser	p.A463S	ENST00000320574	NM_006231.2	463	Gct/Tct	0	not done		probablydamaging	
AL354898.1		inserm.fr	GRCh37	9	133278699	133278699	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000277491.7:c.348G>A	p.Gly116=	p.G116=	ENST00000277491		116	ggG/ggA	0	not done		synonymous	
PGAM5		inserm.fr	GRCh37	12	133294146	133294146	+	synonymous_variant	Silent	SNP	G	A	A			CHC327T																					ENST00000498926.2:c.492G>A	p.Leu164=	p.L164=	ENST00000498926	NM_001170543.1	164	ctG/ctA	0	validated		synonymous	
ASS1		inserm.fr	GRCh37	9	133327655	133327655	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1211T																					ENST00000372394.1:c.40G>A	p.Gly14Ser	p.G14S	ENST00000372394		14	Ggc/Agc	0	not done		probablydamaging	
GOLGA3		inserm.fr	GRCh37	12	133360613	133360613	+	intron_variant	Intron	SNP	C	A	A			BCB167T																					ENST00000204726.3:c.3267+137G>T		*1089*	ENST00000204726	NM_005895.3			0	validated			
GOLGA3		inserm.fr	GRCh37	12	133367855	133367855	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2206T																					ENST00000204726.3:c.2494G>T	p.Ala832Ser	p.A832S	ENST00000204726	NM_005895.3	832	Gct/Tct	0	validated		benign	
CCDC160		inserm.fr	GRCh37	X	133379656	133379656	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000517294.1:c.826G>A	p.Gly276Arg	p.G276R	ENST00000517294		276	Gga/Aga	0	not done		benign	
CHFR		inserm.fr	GRCh37	12	133424694	133424694	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM325T																					ENST00000432561.2:c.1660A>T	p.Ser554Cys	p.S554C	ENST00000432561		554	Agc/Tgc	0	validated		possiblydamaging	
TCF7		inserm.fr	GRCh37	5	133481484	133481484	+	intron_variant	Intron	SNP	C	A	A			CHC889T																					ENST00000342854.5:c.1076-431C>A		*359*	ENST00000342854	NM_003202.3			0	not done		synonymous	
TF		inserm.fr	GRCh37	3	133494435	133494435	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1751T																					ENST00000402696.3:c.1846G>A	p.Val616Ile	p.V616I	ENST00000402696	NM_001063.3	616	Gtc/Atc	0	not done		possiblydamaging	
FUBP3		inserm.fr	GRCh37	9	133507640	133507640	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000319725.9:c.1485G>A	p.Trp495Ter	p.W495*	ENST00000319725	NM_003934.1	495	tgG/tgA	0	not done		damaging	
NCKAP5		inserm.fr	GRCh37	2	133538629	133538629	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1183T																					ENST00000409261.1:c.5045C>T	p.Ser1682Phe	p.S1682F	ENST00000409261	NM_207363.2	1682	tCc/tTc	0	not done		probablydamaging	
FLJ46300		inserm.fr	GRCh37	10	133608098	133608098	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1754T																					ENST00000341866.3:c.278C>T	p.Ser93Leu	p.S93L	ENST00000341866		93	tCa/tTa	0	not done			
SEPHS1		inserm.fr	GRCh37	10	13365015	13365015	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM275T									Valid												ENST00000327347.5:c.784G>T	p.Ala262Ser	p.A262S	ENST00000327347	NM_012247.4	262	Gcc/Tcc	0	validated		possiblydamaging	
CDKL3		inserm.fr	GRCh37	5	133686032	133686032	+	synonymous_variant	Silent	SNP	T	A	A			CHC1061T																					ENST00000265334.4:c.447A>T	p.Thr149=	p.T149=	ENST00000265334	NM_001113575.1	149	acA/acT	0	validated		synonymous	
ZNF891		inserm.fr	GRCh37	12	133697857	133697857	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000537226.1:c.648C>T	p.Cys216=	p.C216=	ENST00000537226	NM_001277291.1	216	tgC/tgT	0	not done		synonymous	
PLAC1		inserm.fr	GRCh37	X	133700191	133700191	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000359237.4:c.522C>T	p.Thr174=	p.T174=	ENST00000359237	NM_021796.3	174	acC/acT	0	not done		synonymous	
ZNF10		inserm.fr	GRCh37	12	133727718	133727718	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM683T																					ENST00000248211.6:c.138C>A	p.Asn46Lys	p.N46K	ENST00000248211	NM_015394.4	46	aaC/aaA	0	validated		probablydamaging	
FIBCD1		inserm.fr	GRCh37	9	133779706	133779706	+	synonymous_variant	Silent	SNP	G	A	A			CHC2208T																					ENST00000372338.4:c.1131C>T	p.Asp377=	p.D377=	ENST00000372338	NM_032843.4	377	gaC/gaT	0	not done		synonymous	
FIBCD1		inserm.fr	GRCh37	9	133780724	133780724	+	synonymous_variant	Silent	SNP	G	A	A			CHC051T																					ENST00000372338.4:c.1023C>T	p.Gly341=	p.G341=	ENST00000372338	NM_032843.4	341	ggC/ggT	0	validated		synonymous	
IGSF9B		inserm.fr	GRCh37	11	133788986	133788986	+	intron_variant	Intron	SNP	T	A	A			CHC912T																					ENST00000533871.2:c.3983+651A>T		*1328*	ENST00000533871	NM_001277285.1			0	validated		benign	
IGSF9B		inserm.fr	GRCh37	11	133799566	133799566	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000533871.2:c.1631G>T	p.Trp544Leu	p.W544L	ENST00000533871	NM_001277285.1	544	tGg/tTg	0	not done		possiblydamaging	
ANHX		inserm.fr	GRCh37	12	133804449	133804449	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000545940.1:c.462C>T	p.Phe154=	p.F154=	ENST00000545940		154	ttC/ttT	0	not done		synonymous	
RYK		inserm.fr	GRCh37	3	133878163	133878163	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC902T																					ENST00000296084.4:c.1633G>T	p.Val545Leu	p.V545L	ENST00000296084	NM_001005861.2	545	Gtg/Ttg	0	not done		benign	
PHF15		inserm.fr	GRCh37	5	133909400	133909400	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000395003.1:c.1500G>A	p.Gln500=	p.Q500=	ENST00000395003	NM_015288.4	500	caG/caA	0	not done		synonymous	
LAMC3		inserm.fr	GRCh37	9	133924480	133924480	+	synonymous_variant	Silent	SNP	C	A	A			CHC2127T																					ENST00000361069.4:c.1593C>A	p.Leu531=	p.L531=	ENST00000361069	NM_006059.3	531	ctC/ctA	0	not done		synonymous	
LAMC3		inserm.fr	GRCh37	9	133942445	133942445	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC889T																					ENST00000361069.4:c.2446G>A	p.Val816Met	p.V816M	ENST00000361069	NM_006059.3	816	Gtg/Atg	0	not done		probablydamaging	
LAMC3		inserm.fr	GRCh37	9	133945110	133945110	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000361069.4:c.2942G>A	p.Gly981Asp	p.G981D	ENST00000361069	NM_006059.3	981	gGc/gAc	0	not done		probablydamaging	
JAKMIP3		inserm.fr	GRCh37	10	133946948	133946948	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000298622.4:c.766G>A	p.Ala256Thr	p.A256T	ENST00000298622	NM_001105521.2	256	Gcc/Acc	0	not done		possiblydamaging	
LAMC3		inserm.fr	GRCh37	9	133948680	133948680	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000361069.4:c.3466G>A	p.Ala1156Thr	p.A1156T	ENST00000361069	NM_006059.3	1156	Gcc/Acc	0	not done		probablydamaging	
SAR1B		inserm.fr	GRCh37	5	133956662	133956662	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000402673.2:c.139G>T	p.Asp47Tyr	p.D47Y	ENST00000402673	NM_016103.3	47	Gat/Tat	0	not done		benign	
TG		inserm.fr	GRCh37	8	133984982	133984982	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000220616.4:c.6195G>A	p.Lys2065=	p.K2065=	ENST00000220616	NM_003235.4	2065	aaG/aaA	0	not done		synonymous	
HS3ST3A1		inserm.fr	GRCh37	17	13399968	13399968	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2115T																					ENST00000284110.1:c.767C>T	p.Thr256Met	p.T256M	ENST00000284110	NM_006042.1	256	aCg/aTg	0	validated		possiblydamaging	
NUP214		inserm.fr	GRCh37	9	134003761	134003761	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC307T									Valid												ENST00000359428.5:c.284T>A	p.Ile95Asn	p.I95N	ENST00000359428	NM_005085.3	95	aTc/aAc	0	validated		probablydamaging	
DPYSL4		inserm.fr	GRCh37	10	134006307	134006307	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB231T									Valid												ENST00000338492.4:c.274G>A	p.Gly92Ser	p.G92S	ENST00000338492	NM_006426.2	92	Ggc/Agc	0	validated		probablydamaging	
DPYSL4		inserm.fr	GRCh37	10	134013939	134013939	+	synonymous_variant	Silent	SNP	G	A	A			CHC1598T																					ENST00000338492.4:c.891G>A	p.Lys297=	p.K297=	ENST00000338492	NM_006426.2	297	aaG/aaA	0	not done		synonymous	
DPYSL4		inserm.fr	GRCh37	10	134016153	134016153	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000338492.4:c.1285G>A	p.Val429Met	p.V429M	ENST00000338492	NM_006426.2	429	Gtg/Atg	0	not done		probablydamaging	
NCAPD3		inserm.fr	GRCh37	11	134062741	134062741	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1052T									Valid												ENST00000534548.2:c.1888G>T	p.Asp630Tyr	p.D630Y	ENST00000534548	NM_015261.2	630	Gac/Tac	0	validated		probablydamaging	
SLA		inserm.fr	GRCh37	8	134063104	134063104	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000427060.2:c.238C>T	p.Pro80Ser	p.P80S	ENST00000427060	NM_006748.3	80	Ccc/Tcc	0	not done		possiblydamaging	
PCDH10		inserm.fr	GRCh37	4	134071593	134071593	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM257T																					ENST00000264360.5:c.298G>A	p.Glu100Lys	p.E100K	ENST00000264360	NM_032961.1	100	Gag/Aag	0	validated		probablydamaging	
PCDH10		inserm.fr	GRCh37	4	134071841	134071841	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000264360.5:c.546G>A	p.Glu182=	p.E182=	ENST00000264360	NM_032961.1	182	gaG/gaA	0	not done		synonymous	
PCDH10		inserm.fr	GRCh37	4	134073246	134073246	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM735T																					ENST00000264360.5:c.1951C>A	p.Gln651Lys	p.Q651K	ENST00000264360	NM_032961.1	651	Cag/Aag	0	validated		possiblydamaging	
NCAPD3		inserm.fr	GRCh37	11	134073776	134073776	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1597T																					ENST00000534548.2:c.1241A>T	p.Asp414Val	p.D414V	ENST00000534548	NM_015261.2	414	gAt/gTt	0	not done		probablydamaging	
CAMLG		inserm.fr	GRCh37	5	134077009	134077009	+	synonymous_variant	Silent	SNP	G	A	A			CHC1731T																					ENST00000297156.2:c.429G>A	p.Ser143=	p.S143=	ENST00000297156	NM_001745.3	143	tcG/tcA	0	not done		synonymous	
PCDH10		inserm.fr	GRCh37	4	134084235	134084235	+	synonymous_variant	Silent	SNP	T	A	A			CHC961T																					ENST00000264360.5:c.2901T>A	p.Ala967=	p.A967=	ENST00000264360	NM_032961.1	967	gcT/gcA	0	validated		synonymous	
NUP214		inserm.fr	GRCh37	9	134103657	134103657	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359428.5:c.6013G>A	p.Gly2005Ser	p.G2005S	ENST00000359428	NM_005085.3	2005	Ggc/Agc	0	not done		probablydamaging	
DDX46		inserm.fr	GRCh37	5	134120060	134120060	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000354283.4:c.1171G>A	p.Gly391Ser	p.G391S	ENST00000354283		391	Ggc/Agc	0	not done		benign	
TG		inserm.fr	GRCh37	8	134128880	134128880	+	synonymous_variant	Silent	SNP	C	A	A			CHC1626T																					ENST00000220616.4:c.7782C>A	p.Ile2594=	p.I2594=	ENST00000220616	NM_003235.4	2594	atC/atA	0	not done		synonymous	
ACAD8		inserm.fr	GRCh37	11	134129502	134129502	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000281182.4:c.568G>A	p.Ala190Thr	p.A190T	ENST00000281182	NM_014384.2	190	Gcc/Acc	0	not done		probablydamaging	
AKR1B1		inserm.fr	GRCh37	7	134136399	134136399	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000285930.4:c.173C>T	p.Ala58Val	p.A58V	ENST00000285930	NM_001628.2	58	gCc/gTc	0	not done		possiblydamaging	
GLB1L3		inserm.fr	GRCh37	11	134181064	134181064	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC469T									Valid												ENST00000431683.2:c.1287G>A	p.Glu429=	p.E429=	ENST00000431683	NM_001080407.2	429	gaG/gaA	0	validated		damaging	
LRRC27		inserm.fr	GRCh37	10	134188607	134188607	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1603T																					ENST00000368614.3:c.1454T>A	p.Leu485Ter	p.L485*	ENST00000368614	NM_030626.2	485	tTg/tAg	0	not done		damaging	
TXNDC15		inserm.fr	GRCh37	5	134223529	134223529	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000358387.4:c.248G>A	p.Gly83Glu	p.G83E	ENST00000358387	NM_024715.3	83	gGg/gAg	0	not done		probablydamaging	
TXNDC15		inserm.fr	GRCh37	5	134223641	134223641	+	synonymous_variant	Silent	SNP	G	A	A			CHC1753T																					ENST00000358387.4:c.360G>A	p.Glu120=	p.E120=	ENST00000358387	NM_024715.3	120	gaG/gaA	0	not done		synonymous	
WISP1		inserm.fr	GRCh37	8	134225364	134225364	+	synonymous_variant	Silent	SNP	G	A	A			CHC1742T																					ENST00000250160.6:c.327G>A	p.Arg109=	p.R109=	ENST00000250160	NM_003882.3	109	agG/agA	0	not done		synonymous	
CEP63		inserm.fr	GRCh37	3	134226015	134226015	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1568T																					ENST00000337090.3:c.109G>A	p.Ala37Thr	p.A37T	ENST00000337090		37	Gct/Act	0	not done		probablydamaging	
GLB1L2		inserm.fr	GRCh37	11	134226284	134226284	+	synonymous_variant	Silent	SNP	G	A	A			CHC313T																					ENST00000535456.2:c.648G>A	p.Lys216=	p.K216=	ENST00000535456	NM_138342.3	216	aaG/aaA	0	validated		synonymous	
CACNA1A		inserm.fr	GRCh37	19	13423534	13423534	+	synonymous_variant	Silent	SNP	C	A	A			CHC1717T																					ENST00000360228.5:c.1617G>T	p.Gly539=	p.G539=	ENST00000360228	NM_001127222.1	539	ggG/ggT	0	not done		synonymous	
GLB1L2		inserm.fr	GRCh37	11	134244510	134244510	+	synonymous_variant	Silent	SNP	G	A	A			BCM711T																					ENST00000535456.2:c.1722G>A	p.Gly574=	p.G574=	ENST00000535456	NM_138342.3	574	ggG/ggA	0	validated		synonymous	
CEP63		inserm.fr	GRCh37	3	134256047	134256047	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000337090.3:c.492G>A	p.Gln164=	p.Q164=	ENST00000337090		164	caG/caA	0	not done		synonymous	
CEP63		inserm.fr	GRCh37	3	134256077	134256077	+	synonymous_variant	Silent	SNP	G	A	A			CHC1725T																					ENST00000337090.3:c.522G>A	p.Arg174=	p.R174=	ENST00000337090		174	agG/agA	0	not done		synonymous	
C10orf91		inserm.fr	GRCh37	10	134259199	134259199	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC796T																					ENST00000392630.3:c.30-1G>A		p.X10_splice	ENST00000392630	NM_173541.2			0	validated		damaging	
NDRG1		inserm.fr	GRCh37	8	134261007	134261007	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1747T																					ENST00000414097.2:c.706G>T	p.Asp236Tyr	p.D236Y	ENST00000414097	NM_001135242.1	236	Gac/Tac	0	not done		probablydamaging	
PRRC2B		inserm.fr	GRCh37	9	134319612	134319612	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000357304.4:c.510G>A	p.Glu170=	p.E170=	ENST00000357304	NM_013318.3	170	gaG/gaA	0	not done		synonymous	
KY		inserm.fr	GRCh37	3	134322702	134322702	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1531T																					ENST00000423778.2:c.1705C>T	p.Pro569Ser	p.P569S	ENST00000423778	NM_178554.4	569	Cct/Tct	0	not done		probablydamaging	
CATSPER3		inserm.fr	GRCh37	5	134345130	134345130	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000282611.6:c.886G>A	p.Val296Met	p.V296M	ENST00000282611	NM_178019.2	296	Gtg/Atg	0	not done		benign	
KY		inserm.fr	GRCh37	3	134362172	134362172	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000423778.2:c.248C>T	p.Ser83Phe	p.S83F	ENST00000423778	NM_178554.4	83	tCc/tTc	0	not done		possiblydamaging	
ZNF75D		inserm.fr	GRCh37	X	134427806	134427806	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC432T																					ENST00000370766.3:c.261G>T	p.Gln87His	p.Q87H	ENST00000370766	NM_007131.3	87	caG/caT	0	not done		probablydamaging	
RAPGEF1		inserm.fr	GRCh37	9	134458028	134458028	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1592T																					ENST00000372190.3:c.2972C>T	p.Ala991Val	p.A991V	ENST00000372190	NM_198679.1	991	gCc/gTc	0	not done		probablydamaging	
RAPGEF1		inserm.fr	GRCh37	9	134459936	134459936	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1598T																					ENST00000372190.3:c.2777G>T	p.Arg926Leu	p.R926L	ENST00000372190	NM_198679.1	926	cGg/cTg	0	not done		probablydamaging	
CACNA1A		inserm.fr	GRCh37	19	13446673	13446673	+	synonymous_variant	Silent	SNP	G	A	A			CHC793T																					ENST00000360228.5:c.1029C>T	p.Leu343=	p.L343=	ENST00000360228	NM_001127222.1	343	ctC/ctT	0	validated		synonymous	
RAPGEF1		inserm.fr	GRCh37	9	134473657	134473657	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1183T																					ENST00000372190.3:c.2038G>T	p.Glu680Ter	p.E680*	ENST00000372190	NM_198679.1	680	Gag/Tag	0	not done		damaging	
RAPGEF1		inserm.fr	GRCh37	9	134501349	134501349	+	synonymous_variant	Silent	SNP	T	A	A			CHC2048T																					ENST00000372190.3:c.1665A>T	p.Pro555=	p.P555=	ENST00000372190	NM_198679.1	555	ccA/ccT	0	not done		synonymous	
INPP5A		inserm.fr	GRCh37	10	134523895	134523895	+	synonymous_variant	Silent	SNP	C	A	A			CHC736T																					ENST00000368594.3:c.582C>A	p.Ala194=	p.A194=	ENST00000368594	NM_005539.3	194	gcC/gcA	0	validated		synonymous	
CALD1		inserm.fr	GRCh37	7	134618624	134618624	+	synonymous_variant	Silent	SNP	G	A	A			BCM739T																					ENST00000361675.2:c.1104G>A	p.Glu368=	p.E368=	ENST00000361675		368	gaG/gaA	0	validated		synonymous	
TTC40		inserm.fr	GRCh37	10	134648181	134648181	+	synonymous_variant	Silent	SNP	G	A	A			CHC1717T																					ENST00000368586.5:c.6843C>T	p.Pro2281=	p.P2281=	ENST00000368586	NM_001200049.2	2281	ccC/ccT	0	not done		synonymous	
TTC40		inserm.fr	GRCh37	10	134679602	134679602	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000368586.5:c.4817C>T	p.Ala1606Val	p.A1606V	ENST00000368586	NM_001200049.2	1606	gCa/gTa	0	not done		possiblydamaging	
H2AFY		inserm.fr	GRCh37	5	134696212	134696212	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1616T																					ENST00000511689.1:c.563C>T	p.Thr188Ile	p.T188I	ENST00000511689	NM_138610.2	188	aCc/aTc	0	not done		possiblydamaging	
DDX26B		inserm.fr	GRCh37	X	134711240	134711240	+	synonymous_variant	Silent	SNP	G	A	A			CHC1601T																					ENST00000370752.4:c.1896G>A	p.Arg632=	p.R632=	ENST00000370752	NM_182540.4	632	agG/agA	0	not done		synonymous	
TTC40		inserm.fr	GRCh37	10	134732883	134732883	+	synonymous_variant	Silent	SNP	C	A	A			CHC1744T																					ENST00000368586.5:c.1794G>T	p.Arg598=	p.R598=	ENST00000368586	NM_001200049.2	598	cgG/cgT	0	not done		synonymous	
C10orf93		inserm.fr	GRCh37	10	134751142	134751142	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1035T																					ENST00000368586.5:c.574G>T	p.Glu192Ter	p.E192*	ENST00000368586	NM_001200049.2	192	Gag/Tag	0	validated		damaging	
EPHB1		inserm.fr	GRCh37	3	134884866	134884866	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM703T																					ENST00000398015.3:c.1642G>A	p.Ala548Thr	p.A548T	ENST00000398015	NM_004441.4	548	Gcc/Acc	0	validated		benign	
EPHB1		inserm.fr	GRCh37	3	134898796	134898796	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1185T																					ENST00000398015.3:c.1854T>A	p.Phe618Leu	p.F618L	ENST00000398015	NM_004441.4	618	ttT/ttA	0	not done		benign	
GPR123		inserm.fr	GRCh37	10	134942133	134942133	+	synonymous_variant	Silent	SNP	G	A	A			CHC2208T																					ENST00000392607.3:c.801G>A	p.Thr267=	p.T267=	ENST00000392607	NM_001083909.1	267	acG/acA	0	not done		synonymous	
GPR123		inserm.fr	GRCh37	10	134942313	134942313	+	synonymous_variant	Silent	SNP	C	A	A			CHC1162T																					ENST00000392607.3:c.981C>A	p.Ala327=	p.A327=	ENST00000392607	NM_001083909.1	327	gcC/gcA	0	validated		synonymous	
GPR123		inserm.fr	GRCh37	10	134942547	134942547	+	synonymous_variant	Silent	SNP	C	A	A			BCM321T																					ENST00000392607.3:c.1215C>A	p.Gly405=	p.G405=	ENST00000392607	NM_001083909.1	405	ggC/ggA	0	validated		synonymous	
KNDC1		inserm.fr	GRCh37	10	134980950	134980950	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000304613.3:c.168G>A	p.Trp56Ter	p.W56*	ENST00000304613		56	tgG/tgA	0	not done		damaging	
KNDC1		inserm.fr	GRCh37	10	134980987	134980987	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC434T									Valid												ENST00000304613.3:c.205G>A	p.Val69Met	p.V69M	ENST00000304613		69	Gtg/Atg	0	validated		probablydamaging	
SAGE1		inserm.fr	GRCh37	X	134991884	134991884	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000535938.1:c.1669G>A	p.Gly557Arg	p.G557R	ENST00000535938	NM_018666.2	557	Gga/Aga	0	not done		probablydamaging	
KNDC1		inserm.fr	GRCh37	10	135012136	135012136	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000304613.3:c.2124G>A	p.Glu708=	p.E708=	ENST00000304613		708	gaG/gaA	0	not done		synonymous	
KNDC1		inserm.fr	GRCh37	10	135032577	135032577	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB151T																					ENST00000304613.3:c.4843G>A	p.Glu1615Lys	p.E1615K	ENST00000304613		1615	Gag/Aag	0	validated		probablydamaging	
ADAM8		inserm.fr	GRCh37	10	135081594	135081594	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1715T																					ENST00000445355.3:c.2092C>T	p.Arg698Cys	p.R698C	ENST00000445355	NM_001109.4	698	Cgc/Tgc	0	not done		possiblydamaging	
ADAM8		inserm.fr	GRCh37	10	135086851	135086851	+	synonymous_variant	Silent	SNP	C	A	A			CHC303T																					ENST00000445355.3:c.480G>T	p.Leu160=	p.L160=	ENST00000445355	NM_001109.4	160	ctG/ctT	0	validated		synonymous	
TUBGCP2		inserm.fr	GRCh37	10	135095760	135095760	+	synonymous_variant	Silent	SNP	G	A	A			BCM695T																					ENST00000543663.1:c.2460C>T	p.Ala820=	p.A820=	ENST00000543663		820	gcC/gcT	0	validated		synonymous	
PTH		inserm.fr	GRCh37	11	13514191	13514191	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC451T																					ENST00000282091.1:c.109C>T	p.Gln37Ter	p.Q37*	ENST00000282091	NM_000315.2	37	Cag/Tag	0	validated		damaging	
FUOM		inserm.fr	GRCh37	10	135170221	135170221	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000368552.3:c.247C>T	p.Pro83Ser	p.P83S	ENST00000368552	NM_001098483.1	83	Ccc/Tcc	0	not done		benign	
SETX		inserm.fr	GRCh37	9	135205365	135205365	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1180T																					ENST00000224140.5:c.1620A>T	p.Arg540Ser	p.R540S	ENST00000224140	NM_015046.5	540	agA/agT	0	validated		probablydamaging	
SETX		inserm.fr	GRCh37	9	135210004	135210004	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000224140.5:c.829G>T	p.Glu277Ter	p.E277*	ENST00000224140	NM_015046.5	277	Gaa/Taa	0	not done		damaging	
MTG1		inserm.fr	GRCh37	10	135215664	135215664	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000317502.6:c.585G>A	p.Arg195=	p.R195=	ENST00000317502	NM_138384.2	195	cgG/cgA	0	not done		synonymous	
ALDH8A1		inserm.fr	GRCh37	6	135254084	135254084	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1531T																					ENST00000265605.2:c.679A>T	p.Ile227Phe	p.I227F	ENST00000265605	NM_022568.3	227	Atc/Ttc	0	not done		probablydamaging	
LOC619207		inserm.fr	GRCh37	10	135273161	135273161	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000482993.2:n.2674G>A		*892*	ENST00000482993				0	not done			
NUP205		inserm.fr	GRCh37	7	135289159	135289159	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1747T																					ENST00000285968.6:c.2774G>A	p.Cys925Tyr	p.C925Y	ENST00000285968	NM_015135.2	925	tGc/tAc	0	not done		possiblydamaging	
BEND7		inserm.fr	GRCh37	10	13534664	13534664	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC432T																					ENST00000341083.3:c.628G>T	p.Glu210Ter	p.E210*	ENST00000341083	NM_152751.2	210	Gag/Tag	0	not done		damaging	
CYP2E1		inserm.fr	GRCh37	10	135347282	135347282	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC121T									Valid												ENST00000463117.2:c.848T>A	p.Leu283Ter	p.L283*	ENST00000463117		283	tTg/tAg	0	validated		damaging	
C9orf171		inserm.fr	GRCh37	9	135374844	135374844	+	synonymous_variant	Silent	SNP	G	A	A			CHC1715T																					ENST00000343036.2:c.489G>A	p.Ala163=	p.A163=	ENST00000343036	NM_207417.1	163	gcG/gcA	0	not done		synonymous	
SLC13A4		inserm.fr	GRCh37	7	135384137	135384137	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000354042.4:c.871C>T	p.Leu291Phe	p.L291F	ENST00000354042	NM_012450.2	291	Ctc/Ttc	0	not done		probablydamaging	
TASP1		inserm.fr	GRCh37	20	13539675	13539675	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			BCM275T									Valid												ENST00000337743.4:c.655A>T	p.Arg219Ter	p.R219*	ENST00000337743	NM_017714.2	219	Aga/Tga	0	validated		damaging	
GPR112		inserm.fr	GRCh37	X	135428437	135428437	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000394143.1:c.2572G>A	p.Val858Met	p.V858M	ENST00000394143	NM_153834.3	858	Gtg/Atg	0	not done		probablydamaging	
FRG2B		inserm.fr	GRCh37	10	135438968	135438968	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2052T																					ENST00000425520.1:c.472C>T	p.Arg158Trp	p.R158W	ENST00000425520	NM_001080998.1	158	Cgg/Tgg	0	not done		probablydamaging	
GPR112		inserm.fr	GRCh37	X	135453676	135453676	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC793T																					ENST00000394143.1:c.7586C>A	p.Ala2529Asp	p.A2529D	ENST00000394143	NM_153834.3	2529	gCc/gAc	0	validated		benign	
DUX4L2		inserm.fr	GRCh37	10	135490749	135490749	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC609T																					ENST00000420742.2:n.478G>A		*160*	ENST00000420742				0	validated		synonymous	
DUX4L2		inserm.fr	GRCh37	10	135490755	135490755	+	non_coding_transcript_exon_variant	RNA	SNP	C	A	A			CHC303T																					ENST00000420742.2:n.484C>A		*162*	ENST00000420742				0	validated		synonymous	
MYB		inserm.fr	GRCh37	6	135518098	135518098	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC794T									Valid												ENST00000341911.5:c.1204-1G>A		p.X402_splice	ENST00000341911	NM_001130173.1			0	validated		damaging	
GTF3C4		inserm.fr	GRCh37	9	135554443	135554443	+	synonymous_variant	Silent	SNP	G	A	A			CHC1044T																					ENST00000372146.4:c.1437G>A	p.Gly479=	p.G479=	ENST00000372146	NM_012204.2	479	ggG/ggA	0	not done		synonymous	
TRPC7		inserm.fr	GRCh37	5	135587442	135587442	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC892T																					ENST00000513104.1:c.1474G>T	p.Ala492Ser	p.A492S	ENST00000513104	NM_020389.2	492	Gcc/Tcc	0	not done		benign	
TRPC7		inserm.fr	GRCh37	5	135601988	135601988	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000513104.1:c.1265C>T	p.Thr422Ile	p.T422I	ENST00000513104	NM_020389.2	422	aCa/aTa	0	not done		benign	
ZFAT		inserm.fr	GRCh37	8	135614867	135614867	+	synonymous_variant	Silent	SNP	G	A	A			CHC794T																					ENST00000377838.3:c.1095C>T	p.Asp365=	p.D365=	ENST00000377838	NM_020863.3	365	gaC/gaT	0	validated		synonymous	
TRPC7		inserm.fr	GRCh37	5	135692652	135692652	+	synonymous_variant	Silent	SNP	G	A	A			CHC1205T																					ENST00000513104.1:c.424C>T	p.Leu142=	p.L142=	ENST00000513104	NM_020389.2	142	Ctg/Ttg	0	not done		synonymous	
ARHGEF6		inserm.fr	GRCh37	X	135750279	135750279	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC912T									Valid												ENST00000250617.6:c.2240G>T	p.Arg747Met	p.R747M	ENST00000250617	NM_004840.2	747	aGg/aTg	0	validated		benign	
TSC1		inserm.fr	GRCh37	9	135772925	135772925	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC889T																					ENST00000298552.3:c.2698C>T	p.Gln900Ter	p.Q900*	ENST00000298552	NM_001162426.1	900	Cag/Tag	0	not done		damaging	
TSC1		inserm.fr	GRCh37	9	135778168	135778168	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1205T									Valid												ENST00000298552.3:c.2215C>T	p.Gln739Ter	p.Q739*	ENST00000298552	NM_001162426.1	739	Cag/Tag	0	validated		damaging	
TSC1		inserm.fr	GRCh37	9	135782198	135782198	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1732T																					ENST00000298552.3:c.1358C>T	p.Ser453Phe	p.S453F	ENST00000298552	NM_001162426.1	453	tCt/tTt	0	not done		possiblydamaging	
PPP2R3A		inserm.fr	GRCh37	3	135809454	135809454	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC805T																					ENST00000264977.3:c.2872T>A	p.Tyr958Asn	p.Y958N	ENST00000264977	NM_001190447.1	958	Tat/Aat	0	not done		probablydamaging	
UVSSA		inserm.fr	GRCh37	4	1360114	1360114	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000389851.4:c.1183G>A	p.Ala395Thr	p.A395T	ENST00000389851	NM_020894.2	395	Gcc/Acc	0	not done		benign	
STAG1		inserm.fr	GRCh37	3	136085905	136085905	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1148T																					ENST00000383202.2:c.2565A>T	p.Glu855Asp	p.E855D	ENST00000383202	NM_005862.2	855	gaA/gaT	0	not done		benign	
GPR101		inserm.fr	GRCh37	X	136112400	136112400	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000298110.1:c.1434C>T	p.Pro478=	p.P478=	ENST00000298110	NM_054021.1	478	ccC/ccT	0	not done		synonymous	
TMEM88B		inserm.fr	GRCh37	1	1361736	1361736	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1754T																					ENST00000378821.3:c.229G>A	p.Val77Ile	p.V77I	ENST00000378821	NM_001146685.1	77	Gtc/Atc	0	validated		probablydamaging	
STAG1		inserm.fr	GRCh37	3	136260998	136260998	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1210T																					ENST00000383202.2:c.434C>T	p.Ala145Val	p.A145V	ENST00000383202	NM_005862.2	145	gCa/gTa	0	validated		benign	
ADAMTS13		inserm.fr	GRCh37	9	136297787	136297787	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC879T																					ENST00000371929.3:c.1066G>A	p.Asp356Asn	p.D356N	ENST00000371929	NM_139025.4	356	Gat/Aat	0	not done		probablydamaging	
ADAMTS13		inserm.fr	GRCh37	9	136307530	136307530	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000371929.3:c.1979G>A	p.Arg660Gln	p.R660Q	ENST00000371929	NM_139025.4	660	cGg/cAg	0	validated		probablydamaging	
ADAMTS13		inserm.fr	GRCh37	9	136315055	136315055	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371929.3:c.3013G>A	p.Glu1005Lys	p.E1005K	ENST00000371929	NM_139025.4	1005	Gag/Aag	0	not done		benign	
SLC2A6		inserm.fr	GRCh37	9	136340598	136340598	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2043T																					ENST00000371899.4:c.698C>T	p.Ala233Val	p.A233V	ENST00000371899	NM_017585.3	233	gCg/gTg	0	not done		possiblydamaging	
PRPF18		inserm.fr	GRCh37	10	13639509	13639509	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB301T																					ENST00000378572.3:c.118G>A	p.Ala40Thr	p.A40T	ENST00000378572	NM_003675.3	40	Gca/Aca	0	validated		benign	
ADAMTSL2		inserm.fr	GRCh37	9	136403470	136403470	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000354484.4:c.234-1G>A		p.X78_splice	ENST00000354484	NM_001145320.1			0	not done		damaging	
ADAMTSL2		inserm.fr	GRCh37	9	136419800	136419800	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM671T																					ENST00000354484.4:c.1261G>A	p.Gly421Ser	p.G421S	ENST00000354484	NM_001145320.1	421	Ggc/Agc	0	validated		benign	
ADAMTSL2		inserm.fr	GRCh37	9	136433466	136433466	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000354484.4:c.1946G>A	p.Cys649Tyr	p.C649Y	ENST00000354484	NM_001145320.1	649	tGc/tAc	0	not done		probablydamaging	
ADAMTSL2		inserm.fr	GRCh37	9	136434569	136434569	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000354484.4:c.2284G>A	p.Val762Met	p.V762M	ENST00000354484	NM_001145320.1	762	Gtg/Atg	0	not done		probablydamaging	
ADAMTSL2		inserm.fr	GRCh37	9	136435570	136435570	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1035T									Valid												ENST00000354484.4:c.2533G>A	p.Glu845Lys	p.E845K	ENST00000354484	NM_001145320.1	845	Gag/Aag	0	validated		possiblydamaging	
SPOCK1		inserm.fr	GRCh37	5	136448229	136448229	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000394945.1:c.369C>T	p.Ala123=	p.A123=	ENST00000394945	NM_004598.3	123	gcC/gcT	0	not done		synonymous	
SARDH		inserm.fr	GRCh37	9	136535790	136535790	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM371T																					ENST00000371872.4:c.2411C>T	p.Pro804Leu	p.P804L	ENST00000371872	NM_007101.3	804	cCg/cTg	0	validated		benign	
LCT		inserm.fr	GRCh37	2	136566318	136566318	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1616T																					ENST00000264162.2:c.3599C>T	p.Thr1200Met	p.T1200M	ENST00000264162	NM_002299.2	1200	aCg/aTg	0	not done		probablydamaging	
LCT		inserm.fr	GRCh37	2	136566321	136566321	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000264162.2:c.3596C>T	p.Ala1199Val	p.A1199V	ENST00000264162	NM_002299.2	1199	gCg/gTg	0	validated		possiblydamaging	
LCT		inserm.fr	GRCh37	2	136567460	136567460	+	synonymous_variant	Silent	SNP	G	A	A			CHC2321T																					ENST00000264162.2:c.2457C>T	p.His819=	p.H819=	ENST00000264162	NM_002299.2	819	caC/caT	0	validated		synonymous	
LCT		inserm.fr	GRCh37	2	136567548	136567548	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM375T									Valid												ENST00000264162.2:c.2369C>T	p.Ser790Phe	p.S790F	ENST00000264162	NM_002299.2	790	tCt/tTt	0	validated		possiblydamaging	
MCM6		inserm.fr	GRCh37	2	136610401	136610401	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1052T									Valid												ENST00000264156.2:c.1711G>T	p.Asp571Tyr	p.D571Y	ENST00000264156	NM_005915.5	571	Gat/Tat	0	validated		probablydamaging	
ZIC3		inserm.fr	GRCh37	X	136648913	136648913	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000287538.5:c.63G>A	p.Ala21=	p.A21=	ENST00000287538	NM_003413.3	21	gcG/gcA	0	not done		synonymous	
CHRM2		inserm.fr	GRCh37	7	136700374	136700374	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000445907.2:c.762C>A	p.Gly254=	p.G254=	ENST00000445907	NM_001006627.1	254	ggC/ggA	0	not done		synonymous	
DARS		inserm.fr	GRCh37	2	136719015	136719015	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1568T																					ENST00000264161.4:c.271G>T	p.Val91Leu	p.V91L	ENST00000264161	NM_001349.2	91	Gtg/Ttg	0	not done		benign	
PRAMEF19		inserm.fr	GRCh37	1	13696095	13696095	+	synonymous_variant	Silent	SNP	G	A	A			CHC429T																					ENST00000540591.1:c.870C>T	p.Cys290=	p.C290=	ENST00000540591	NM_001099790.1	290	tgC/tgT	0	validated		synonymous	
KLHL3		inserm.fr	GRCh37	5	137045464	137045464	+	synonymous_variant	Silent	SNP	G	A	A			BCM375T																					ENST00000309755.4:c.216C>T	p.Ser72=	p.S72=	ENST00000309755	NM_017415.2	72	agC/agT	0	validated		synonymous	
DGKI		inserm.fr	GRCh37	7	137076049	137076049	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2052T																					ENST00000288490.5:c.3115G>T	p.Gly1039Trp	p.G1039W	ENST00000288490	NM_004717.2	1039	Ggg/Tgg	0	not done		probablydamaging	
DGKI		inserm.fr	GRCh37	7	137096932	137096932	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000288490.5:c.2807C>T	p.Ala936Val	p.A936V	ENST00000288490	NM_004717.2	936	gCt/gTt	0	not done		benign	
DGKI		inserm.fr	GRCh37	7	137154333	137154333	+	synonymous_variant	Silent	SNP	T	A	A			CHC433T																					ENST00000288490.5:c.2460A>T	p.Ser820=	p.S820=	ENST00000288490	NM_004717.2	820	tcA/tcT	0	validated		synonymous	
GRIN2B		inserm.fr	GRCh37	12	13716336	13716336	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC155T																					ENST00000609686.1:c.3836C>T	p.Thr1279Ile	p.T1279I	ENST00000609686	NM_000834.3	1279	aCt/aTt	0	validated		benign	
PRAMEF17		inserm.fr	GRCh37	1	13716896	13716896	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC306T																					ENST00000376098.4:c.383C>A	p.Ala128Asp	p.A128D	ENST00000376098	NM_001099851.1	128	gCc/gAc	0	validated		probablydamaging	
RXRA		inserm.fr	GRCh37	9	137321059	137321059	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000481739.1:c.1016G>A	p.Ser339Asn	p.S339N	ENST00000481739	NM_002957.4	339	aGc/aAc	0	not done		benign	
FAR1		inserm.fr	GRCh37	11	13732337	13732337	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM321T																					ENST00000354817.3:c.643G>A	p.Val215Ile	p.V215I	ENST00000354817	NM_032228.5	215	Gta/Ata	0	validated		benign	
RXRA		inserm.fr	GRCh37	9	137323781	137323781	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000481739.1:c.1074G>A	p.Arg358=	p.R358=	ENST00000481739	NM_002957.4	358	cgG/cgA	0	not done		synonymous	
IL20RA		inserm.fr	GRCh37	6	137325803	137325803	+	synonymous_variant	Silent	SNP	G	A	A			CHC1592T																					ENST00000316649.5:c.819C>T	p.Ile273=	p.I273=	ENST00000316649	NM_014432.3	273	atC/atT	0	not done		synonymous	
WNT8A		inserm.fr	GRCh37	5	137424720	137424720	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000398754.1:c.472G>A	p.Ala158Thr	p.A158T	ENST00000398754	NM_058244.2	158	Gcc/Acc	0	not done		probablydamaging	
SOX14		inserm.fr	GRCh37	3	137484298	137484298	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000306087.1:c.672G>A	p.Met224Ile	p.M224I	ENST00000306087	NM_004189.3	224	atG/atA	0	not done		possiblydamaging	
BRD8		inserm.fr	GRCh37	5	137498916	137498916	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC794T																					ENST00000254900.5:c.1990G>T	p.Val664Leu	p.V664L	ENST00000254900	NM_139199.1	664	Gtg/Ttg	0	validated		possiblydamaging	
BRD8		inserm.fr	GRCh37	5	137503739	137503739	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1190T																					ENST00000254900.5:c.671C>T	p.Ser224Phe	p.S224F	ENST00000254900	NM_139199.1	224	tCt/tTt	0	validated		probablydamaging	
GFRA3		inserm.fr	GRCh37	5	137588734	137588734	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1040T																					ENST00000274721.3:c.1126G>T	p.Ala376Ser	p.A376S	ENST00000274721	NM_001496.3	376	Gct/Tct	0	not done		probablydamaging	
GFRA3		inserm.fr	GRCh37	5	137593443	137593443	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1602T																					ENST00000274721.3:c.670G>T	p.Asp224Tyr	p.D224Y	ENST00000274721	NM_001496.3	224	Gac/Tac	0	not done		probablydamaging	
RNMT		inserm.fr	GRCh37	18	13759941	13759941	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000383314.2:c.1394G>A	p.Ser465Asn	p.S465N	ENST00000383314		465	aGt/aAt	0	not done		possiblydamaging	
DNAH5		inserm.fr	GRCh37	5	13762839	13762839	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000265104.4:c.10273C>T	p.Pro3425Ser	p.P3425S	ENST00000265104	NM_001369.2	3425	Cct/Tct	0	not done		probablydamaging	
OFD1		inserm.fr	GRCh37	X	13765073	13765073	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC1744T									Valid												ENST00000340096.6:c.828+1G>A		p.X276_splice	ENST00000340096	NM_003611.2			0	validated		damaging	
FAM53C		inserm.fr	GRCh37	5	137681168	137681168	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000239906.5:c.791G>A	p.Gly264Asp	p.G264D	ENST00000239906	NM_016605.2	264	gGt/gAt	0	not done		probablydamaging	
KDM3B		inserm.fr	GRCh37	5	137688497	137688497	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1531T																					ENST00000314358.5:c.13G>A	p.Ala5Thr	p.A5T	ENST00000314358	NM_016604.3	5	Gcg/Acg	0	validated		possiblydamaging	
DNAH5		inserm.fr	GRCh37	5	13769114	13769114	+	synonymous_variant	Silent	SNP	C	A	A			BCM397T																					ENST00000265104.4:c.9852G>T	p.Leu3284=	p.L3284=	ENST00000265104	NM_001369.2	3284	ctG/ctT	0	validated		synonymous	
COL5A1		inserm.fr	GRCh37	9	137716501	137716501	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1531T																					ENST00000371817.3:c.4754G>A	p.Arg1585Gln	p.R1585Q	ENST00000371817	NM_001278074.1	1585	cGg/cAg	0	not done		probablydamaging	
COL5A1		inserm.fr	GRCh37	9	137717711	137717711	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000371817.3:c.5028G>A	p.Gly1676=	p.G1676=	ENST00000371817	NM_001278074.1	1676	ggG/ggA	0	not done		synonymous	
KDM3B		inserm.fr	GRCh37	5	137728859	137728859	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000314358.5:c.2630-1G>A		p.X877_splice	ENST00000314358	NM_016604.3			0	not done		damaging	
CLDN18		inserm.fr	GRCh37	3	137749861	137749861	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC320T																					ENST00000183605.5:c.664C>A	p.Pro222Thr	p.P222T	ENST00000183605	NM_016369.3	222	Cct/Act	0	validated		benign	
OFD1		inserm.fr	GRCh37	X	13778311	13778311	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000340096.6:c.1732G>A	p.Val578Met	p.V578M	ENST00000340096	NM_003611.2	578	Gtg/Atg	0	not done		benign	
FGF13		inserm.fr	GRCh37	X	137793023	137793023	+	intron_variant	Intron	SNP	C	A	A			BCM769T																					ENST00000370603.3:c.218-1933G>T		*73*	ENST00000370603				0	validated		probablydamaging	
A4GNT		inserm.fr	GRCh37	3	137843190	137843190	+	synonymous_variant	Silent	SNP	G	A	A			CHC1756T																					ENST00000236709.3:c.939C>T	p.Arg313=	p.R313=	ENST00000236709	NM_016161.2	313	cgC/cgT	0	not done		synonymous	
DNAH5		inserm.fr	GRCh37	5	13786303	13786303	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1753T																					ENST00000265104.4:c.8805G>T	p.Met2935Ile	p.M2935I	ENST00000265104	NM_001369.2	2935	atG/atT	0	not done		benign	
THSD7B		inserm.fr	GRCh37	2	137872845	137872845	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB151T																					ENST00000272643.3:c.1351G>A	p.Ala451Thr	p.A451T	ENST00000272643		451	Gca/Aca	0	validated		benign	
THSD7B		inserm.fr	GRCh37	2	137872863	137872863	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1600T																					ENST00000272643.3:c.1369G>A	p.Val457Ile	p.V457I	ENST00000272643		457	Gtc/Atc	0	not done		possiblydamaging	
ARMC8		inserm.fr	GRCh37	3	138009388	138009388	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000481646.1:c.1853G>A	p.Gly618Asp	p.G618D	ENST00000481646	NM_015396.4	618	gGt/gAt	0	not done		probablydamaging	
OLFM1		inserm.fr	GRCh37	9	138011625	138011625	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000252854.4:c.1005G>A	p.Ser335=	p.S335=	ENST00000252854	NM_014279.4	335	tcG/tcA	0	not done		synonymous	
ARMC8		inserm.fr	GRCh37	3	138014702	138014702	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000481646.1:c.1948G>A	p.Ala650Thr	p.A650T	ENST00000481646	NM_015396.4	650	Gca/Aca	0	not done		possiblydamaging	
DNAH5		inserm.fr	GRCh37	5	13811834	13811834	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC155T									Valid												ENST00000265104.4:c.7329A>T	p.Leu2443Phe	p.L2443F	ENST00000265104	NM_001369.2	2443	ttA/ttT	0	validated		possiblydamaging	
THSD7B		inserm.fr	GRCh37	2	138169284	138169284	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC097T																					ENST00000272643.3:c.2801G>A	p.Trp934Ter	p.W934*	ENST00000272643		934	tGg/tAg	0	not done		damaging	
TNFAIP3		inserm.fr	GRCh37	6	138200419	138200419	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000237289.4:c.1837G>A	p.Val613Met	p.V613M	ENST00000237289	NM_001270507.1	613	Gtg/Atg	0	validated		benign	
SVOPL		inserm.fr	GRCh37	7	138281247	138281247	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000419765.3:c.1382C>T	p.Ala461Val	p.A461V	ENST00000419765	NM_001139456.1	461	gCc/gTc	0	not done		probablydamaging	
FAIM		inserm.fr	GRCh37	3	138341105	138341105	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000338446.4:c.289G>A	p.Ala97Thr	p.A97T	ENST00000338446	NM_001033030.1	97	Gcg/Acg	0	not done		probablydamaging	
LRRC38		inserm.fr	GRCh37	1	13839825	13839825	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2098T																					ENST00000376085.3:c.264G>T	p.Arg88Ser	p.R88S	ENST00000376085	NM_001010847.1	88	agG/agT	0	not done			
THSD7B		inserm.fr	GRCh37	2	138400146	138400146	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC306T																					ENST00000272643.3:c.3897C>A	p.Cys1299Ter	p.C1299*	ENST00000272643		1299	tgC/tgA	0	validated		damaging	
PIK3CB		inserm.fr	GRCh37	3	138407738	138407738	+	synonymous_variant	Silent	SNP	G	A	A			BCM337T																					ENST00000289153.2:c.2115C>T	p.His705=	p.H705=	ENST00000289153	NM_006219.2	705	caC/caT	0	validated		synonymous	
THSD7B		inserm.fr	GRCh37	2	138414519	138414519	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1715T																					ENST00000272643.3:c.4268T>A	p.Leu1423Gln	p.L1423Q	ENST00000272643		1423	cTa/cAa	0	not done		possiblydamaging	
PCDH18		inserm.fr	GRCh37	4	138442615	138442615	+	synonymous_variant	Silent	SNP	G	A	A			BCM483T																					ENST00000344876.4:c.2976C>T	p.Asn992=	p.N992=	ENST00000344876	NM_019035.3	992	aaC/aaT	0	validated		synonymous	
PCDH18		inserm.fr	GRCh37	4	138451748	138451748	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000344876.4:c.1495C>T	p.Gln499Ter	p.Q499*	ENST00000344876	NM_019035.3	499	Caa/Taa	0	not done		damaging	
PCDH18		inserm.fr	GRCh37	4	138452985	138452985	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000344876.4:c.258C>T	p.Ile86=	p.I86=	ENST00000344876	NM_019035.3	86	atC/atT	0	not done		synonymous	
PAEP		inserm.fr	GRCh37	9	138453695	138453695	+	synonymous_variant	Silent	SNP	C	A	A			CHC884T																					ENST00000479141.1:c.48C>A	p.Val16=	p.V16=	ENST00000479141	NM_002571.2	16	gtC/gtA	0	validated		synonymous	
SEL1L2		inserm.fr	GRCh37	20	13845845	13845845	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000378072.5:c.1447C>T	p.Arg483Cys	p.R483C	ENST00000378072	NM_001271539.1	483	Cgc/Tgc	0	validated		probablydamaging	
GLT6D1		inserm.fr	GRCh37	9	138516156	138516156	+	synonymous_variant	Silent	SNP	G	A	A			CHC1191T																					ENST00000371763.1:c.618C>T	p.Phe206=	p.F206=	ENST00000371763	NM_182974.2	206	ttC/ttT	0	not done		synonymous	
KIAA1549		inserm.fr	GRCh37	7	138545985	138545985	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC703T																					ENST00000422774.1:c.5147C>T	p.Pro1716Leu	p.P1716L	ENST00000422774		1716	cCc/cTc	0	validated		benign	
KIAA1549		inserm.fr	GRCh37	7	138554289	138554289	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC465T									Valid												ENST00000422774.1:c.4770G>T	p.Arg1590Ser	p.R1590S	ENST00000422774		1590	agG/agT	0	validated		probablydamaging	
SOHLH1		inserm.fr	GRCh37	9	138588565	138588565	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC923T																					ENST00000425225.1:c.554C>T	p.Ala185Val	p.A185V	ENST00000425225	NM_001101677.1	185	gCg/gTg	0	not done		benign	
KCNT1		inserm.fr	GRCh37	9	138645822	138645822	+	synonymous_variant	Silent	SNP	G	A	A			CHC303T																					ENST00000371757.2:c.474G>A	p.Ser158=	p.S158=	ENST00000371757	NM_020822.2	158	tcG/tcA	0	validated		synonymous	
KCNT1		inserm.fr	GRCh37	9	138651552	138651552	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000371757.2:c.882G>A	p.Arg294=	p.R294=	ENST00000371757	NM_020822.2	294	cgG/cgA	0	not done		synonymous	
KIAA1244		inserm.fr	GRCh37	6	138655384	138655384	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC614T																					ENST00000251691.4:c.5401G>A	p.Gly1801Arg	p.G1801R	ENST00000251691	NM_020340.4	1801	Ggg/Agg	0	validated		probablydamaging	
KIAA1244		inserm.fr	GRCh37	6	138656236	138656236	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM325T																					ENST00000251691.4:c.6253G>A	p.Glu2085Lys	p.E2085K	ENST00000251691	NM_020340.4	2085	Gag/Aag	0	validated		probablydamaging	
KCNT1		inserm.fr	GRCh37	9	138660508	138660508	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1062T																					ENST00000371757.2:c.1390C>A	p.Arg464Ser	p.R464S	ENST00000371757	NM_020822.2	464	Cgc/Agc	0	validated		possiblydamaging	
C3orf72		inserm.fr	GRCh37	3	138669264	138669264	+	synonymous_variant	Silent	SNP	T	A	A			CHC1720T																					ENST00000383165.3:c.378T>A	p.Val126=	p.V126=	ENST00000383165	NM_001040061.2	126	gtT/gtA	0	not done		synonymous	
YJU2B		inserm.fr	GRCh37	19	13869973	13869973	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1756T																					ENST00000586600.1:c.460G>A	p.Ala154Thr	p.A154T	ENST00000586600		154	Gcc/Acc	0	not done		benign	
CAMSAP1		inserm.fr	GRCh37	9	138709868	138709868	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1211T																					ENST00000389532.4:c.4226C>T	p.Thr1409Met	p.T1409M	ENST00000389532	NM_015447.3	1409	aCg/aTg	0	not done		probablydamaging	
SLC23A1		inserm.fr	GRCh37	5	138715910	138715910	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1060T																					ENST00000353963.3:c.646G>T	p.Gly216Cys	p.G216C	ENST00000353963	NM_152685.3	216	Ggc/Tgc	0	validated		probablydamaging	
PRR23B		inserm.fr	GRCh37	3	138739089	138739089	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000329447.5:c.415C>T	p.Leu139=	p.L139=	ENST00000329447	NM_001013650.2	139	Ctg/Ttg	0	not done		synonymous	
NHSL1		inserm.fr	GRCh37	6	138751994	138751994	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC218T									Valid												ENST00000427025.2:c.3500G>T	p.Ser1167Ile	p.S1167I	ENST00000427025	NM_020464.1	1167	aGc/aTc	0	validated		probablydamaging	
NHSL1		inserm.fr	GRCh37	6	138752322	138752322	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1201T																					ENST00000427025.2:c.3172C>T	p.Pro1058Ser	p.P1058S	ENST00000427025	NM_020464.1	1058	Cct/Tct	0	not done		probablydamaging	
MRI1		inserm.fr	GRCh37	19	13875768	13875768	+	synonymous_variant	Silent	SNP	C	A	A			CHC2200T																					ENST00000040663.6:c.216C>A	p.Leu72=	p.L72=	ENST00000040663	NM_001031727.2	72	ctC/ctA	0	validated		synonymous	
PRR23C		inserm.fr	GRCh37	3	138762838	138762838	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1715T																					ENST00000413199.1:c.625C>T	p.Arg209Cys	p.R209C	ENST00000413199	NM_001134657.1	209	Cgc/Tgc	0	not done		benign	
ZC3HAV1		inserm.fr	GRCh37	7	138764472	138764472	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM739T																					ENST00000242351.5:c.1215G>T	p.Leu405Phe	p.L405F	ENST00000242351	NM_020119.3	405	ttG/ttT	0	validated		possiblydamaging	
ZC3HAV1		inserm.fr	GRCh37	7	138793965	138793965	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM337T																					ENST00000242351.5:c.113G>T	p.Cys38Phe	p.C38F	ENST00000242351	NM_020119.3	38	tGt/tTt	0	validated		possiblydamaging	
ATP11C		inserm.fr	GRCh37	X	138823238	138823238	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1183T																					ENST00000327569.3:c.3055C>T	p.Arg1019Ter	p.R1019*	ENST00000327569	NM_173694.4	1019	Cga/Tga	0	not done		damaging	
TMEM173		inserm.fr	GRCh37	5	138855863	138855863	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM783T																					ENST00000330794.4:c.1123C>T	p.Arg375Cys	p.R375C	ENST00000330794	NM_198282.2	375	Cgc/Tgc	0	validated		probablydamaging	
CRIPAK		inserm.fr	GRCh37	4	1388628	1388628	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1738T																					ENST00000324803.4:c.329G>A	p.Cys110Tyr	p.C110Y	ENST00000324803	NM_175918.3	110	tGc/tAc	0	not done		probablydamaging	
CRIPAK		inserm.fr	GRCh37	4	1389114	1389114	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC433T																					ENST00000324803.4:c.815T>A	p.Leu272His	p.L272H	ENST00000324803	NM_175918.3	272	cTc/cAc	0	validated		probablydamaging	
CRIPAK		inserm.fr	GRCh37	4	1389219	1389219	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000324803.4:c.920G>A	p.Arg307His	p.R307H	ENST00000324803	NM_175918.3	307	cGt/cAt	0	not done		possiblydamaging	
WNT7A		inserm.fr	GRCh37	3	13896112	13896112	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000285018.4:c.487G>T	p.Ala163Ser	p.A163S	ENST00000285018	NM_004625.3	163	Gcc/Tcc	0	not done		benign	
ATAD3C		inserm.fr	GRCh37	1	1389861	1389861	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1534T																					ENST00000378785.2:c.359C>A	p.Ala120Glu	p.A120E	ENST00000378785	NM_001039211.2	120	gCg/gAg	0	validated		probablydamaging	
CCDC28A		inserm.fr	GRCh37	6	139094831	139094831	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1594T																					ENST00000332797.6:c.20G>A	p.Arg7Lys	p.R7K	ENST00000332797	NM_015439.2	7	aGa/aAa	0	not done		benign	
ECT2L		inserm.fr	GRCh37	6	139135645	139135645	+	synonymous_variant	Silent	SNP	G	A	A			CHC1708T																					ENST00000423192.1:c.84G>A	p.Val28=	p.V28=	ENST00000423192		28	gtG/gtA	0	not done		synonymous	
FAM135B		inserm.fr	GRCh37	8	139158213	139158213	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC703T																					ENST00000395297.1:c.3529G>T	p.Glu1177Ter	p.E1177*	ENST00000395297	NM_015912.3	1177	Gaa/Taa	0	validated		damaging	
PSD2		inserm.fr	GRCh37	5	139189028	139189028	+	start_lost	Translation_Start_Site	SNP	G	A	A			CHC892T																					ENST00000274710.3:c.3G>A	p.Met1?	p.M1?	ENST00000274710	NM_032289.2	1	atG/atA	0	not done		possiblydamaging	
ECT2L		inserm.fr	GRCh37	6	139202145	139202145	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1600T																					ENST00000423192.1:c.1717G>A	p.Glu573Lys	p.E573K	ENST00000423192		573	Gaa/Aaa	0	not done		probablydamaging	
PSD2		inserm.fr	GRCh37	5	139217341	139217341	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T									Valid												ENST00000274710.3:c.1797C>A	p.Asp599Glu	p.D599E	ENST00000274710	NM_032289.2	599	gaC/gaA	0	validated		possiblydamaging	
ATAD3C		inserm.fr	GRCh37	1	1392533	1392533	+	synonymous_variant	Silent	SNP	G	A	A			CHC1715T																					ENST00000378785.2:c.714G>A	p.Ala238=	p.A238=	ENST00000378785	NM_001039211.2	238	gcG/gcA	0	not done		synonymous	
HIPK2		inserm.fr	GRCh37	7	139257936	139257936	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2127T																					ENST00000406875.3:c.3334G>T	p.Gly1112Cys	p.G1112C	ENST00000406875	NM_022740.4	1112	Ggc/Tgc	0	validated		probablydamaging	
HIPK2		inserm.fr	GRCh37	7	139257947	139257947	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1148T																					ENST00000406875.3:c.3323C>T	p.Pro1108Leu	p.P1108L	ENST00000406875	NM_022740.4	1108	cCg/cTg	0	validated		possiblydamaging	
DNLZ		inserm.fr	GRCh37	9	139257984	139257984	+	synonymous_variant	Silent	SNP	C	A	A			CHC314T																					ENST00000371738.3:c.183G>T	p.Leu61=	p.L61=	ENST00000371738	NM_001080849.2	61	ctG/ctT	0	validated		synonymous	
CARD9		inserm.fr	GRCh37	9	139262104	139262104	+	synonymous_variant	Silent	SNP	C	A	A			CHC301T																					ENST00000371732.5:c.1254G>T	p.Leu418=	p.L418=	ENST00000371732	NM_052813.4	418	ctG/ctT	0	validated		synonymous	
SNAPC4		inserm.fr	GRCh37	9	139273510	139273510	+	synonymous_variant	Silent	SNP	G	A	A			CHC1182T																					ENST00000298532.2:c.2769C>T	p.Val923=	p.V923=	ENST00000298532	NM_003086.2	923	gtC/gtT	0	not done		synonymous	
SNAPC4		inserm.fr	GRCh37	9	139292812	139292812	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000298532.2:c.69C>T	p.Pro23=	p.P23=	ENST00000298532	NM_003086.2	23	ccC/ccT	0	validated		synonymous	
SPOPL		inserm.fr	GRCh37	2	139316881	139316881	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000280098.4:c.688G>A	p.Glu230Lys	p.E230K	ENST00000280098	NM_001001664.2	230	Gaa/Aaa	0	not done		benign	
SEC16A		inserm.fr	GRCh37	9	139345761	139345761	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC2351T																					ENST00000313050.7:c.6259G>T	p.Glu2087Ter	p.E2087*	ENST00000313050	NM_014866.1	2087	Gaa/Taa	0	not done		damaging	
SEL1L2		inserm.fr	GRCh37	20	13936738	13936738	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1183T																					ENST00000378072.5:c.98G>T	p.Arg33Ile	p.R33I	ENST00000378072	NM_001271539.1	33	aGa/aTa	0	validated		benign	
SEC16A		inserm.fr	GRCh37	9	139370120	139370120	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC801T																					ENST00000313050.7:c.1948G>T	p.Ala650Ser	p.A650S	ENST00000313050	NM_014866.1	650	Gcc/Tcc	0	not done		benign	
NOTCH1		inserm.fr	GRCh37	9	139391950	139391950	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000277541.6:c.6241C>T	p.Leu2081=	p.L2081=	ENST00000277541	NM_017617.3	2081	Ctg/Ttg	0	validated		synonymous	
NOTCH1		inserm.fr	GRCh37	9	139399164	139399164	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1731T																					ENST00000277541.6:c.4979G>T	p.Gly1660Val	p.G1660V	ENST00000277541	NM_017617.3	1660	gGg/gTg	0	validated		possiblydamaging	
NOTCH1		inserm.fr	GRCh37	9	139399225	139399225	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000277541.6:c.4918G>T	p.Ala1640Ser	p.A1640S	ENST00000277541	NM_017617.3	1640	Gca/Tca	0	not done		benign	
NOTCH1		inserm.fr	GRCh37	9	139412625	139412625	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC884T																					ENST00000277541.6:c.1219C>T	p.Pro407Ser	p.P407S	ENST00000277541	NM_017617.3	407	Ccg/Tcg	0	validated		benign	
HIPK2		inserm.fr	GRCh37	7	139416585	139416585	+	synonymous_variant	Silent	SNP	G	A	A			CHC1712T																					ENST00000406875.3:c.249C>T	p.Thr83=	p.T83=	ENST00000406875	NM_022740.4	83	acC/acT	0	not done		synonymous	
SLC6A3		inserm.fr	GRCh37	5	1394855	1394855	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB167T																					ENST00000270349.9:c.1858G>T	p.Val620Leu	p.V620L	ENST00000270349	NM_001044.4	620	Gtg/Ttg	0	validated		benign	
EGFL7		inserm.fr	GRCh37	9	139564100	139564100	+	synonymous_variant	Silent	SNP	C	A	A			CHC433T																					ENST00000308874.7:c.240C>A	p.Ala80=	p.A80=	ENST00000308874		80	gcC/gcA	0	validated		synonymous	
MYO1C		inserm.fr	GRCh37	17	1395734	1395734	+	synonymous_variant	Silent	SNP	C	A	A			CHC1061T																					ENST00000359786.5:c.48G>T	p.Val16=	p.V16=	ENST00000359786	NM_001080779.1	16	gtG/gtT	0	validated		synonymous	
SOX3		inserm.fr	GRCh37	X	139586358	139586358	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370536.2:c.868C>T	p.Pro290Ser	p.P290S	ENST00000370536	NM_005634.2	290	Ccg/Tcg	0	not done		benign	
SOX3		inserm.fr	GRCh37	X	139586678	139586678	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1602T																					ENST00000370536.2:c.548C>T	p.Ala183Val	p.A183V	ENST00000370536	NM_005634.2	183	gCc/gTc	0	not done		probablydamaging	
COL22A1		inserm.fr	GRCh37	8	139611102	139611102	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000303045.6:c.4225G>T	p.Gly1409Ter	p.G1409*	ENST00000303045	NM_152888.1	1409	Gga/Tga	0	not done		damaging	
FAM69B		inserm.fr	GRCh37	9	139616414	139616414	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC2034T																					ENST00000371692.4:c.240C>A	p.Cys80Ter	p.C80*	ENST00000371692	NM_152421.3	80	tgC/tgA	0	validated		damaging	
FAM69B		inserm.fr	GRCh37	9	139618193	139618193	+	synonymous_variant	Silent	SNP	C	A	A			CHC197T																					ENST00000371692.4:c.1263C>A	p.Leu421=	p.L421=	ENST00000371692	NM_152421.3	421	ctC/ctA	0	validated		synonymous	
LCN6		inserm.fr	GRCh37	9	139641912	139641912	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000341206.4:c.194C>T	p.Pro65Leu	p.P65L	ENST00000341206	NM_198946.2	65	cCa/cTa	0	not done		benign	
LCN15		inserm.fr	GRCh37	9	139656656	139656656	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000316144.5:c.504C>T	p.Val168=	p.V168=	ENST00000316144	NM_203347.1	168	gtC/gtT	0	not done		synonymous	
COL22A1		inserm.fr	GRCh37	8	139658908	139658908	+	synonymous_variant	Silent	SNP	T	A	A			CHC2103T																					ENST00000303045.6:c.3465A>T	p.Pro1155=	p.P1155=	ENST00000303045	NM_152888.1	1155	ccA/ccT	0	not done		synonymous	
KIAA1984		inserm.fr	GRCh37	9	139697137	139697137	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC451T																					ENST00000338005.6:c.565G>A	p.Glu189Lys	p.E189K	ENST00000338005	NM_001039374.4	189	Gag/Aag	0	validated		benign	
COL22A1		inserm.fr	GRCh37	8	139732993	139732993	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000303045.6:c.2344C>T	p.Pro782Ser	p.P782S	ENST00000303045	NM_152888.1	782	Cca/Tca	0	not done		probablydamaging	
COL22A1		inserm.fr	GRCh37	8	139774663	139774663	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM337T																					ENST00000303045.6:c.1850G>T	p.Gly617Val	p.G617V	ENST00000303045	NM_152888.1	617	gGa/gTa	0	validated		probablydamaging	
RNF182		inserm.fr	GRCh37	6	13977482	13977482	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC433T									Valid												ENST00000488300.1:c.132T>A	p.Cys44Ter	p.C44*	ENST00000488300	NM_152737.3	44	tgT/tgA	0	validated		damaging	
COL22A1		inserm.fr	GRCh37	8	139793173	139793173	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM371T																					ENST00000303045.6:c.1647G>T	p.Met549Ile	p.M549I	ENST00000303045	NM_152888.1	549	atG/atT	0	validated		benign	
JHDM1D		inserm.fr	GRCh37	7	139796542	139796542	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000397560.2:c.2187C>T	p.Ser729=	p.S729=	ENST00000397560	NM_030647.1	729	agC/agT	0	not done		synonymous	
COL22A1		inserm.fr	GRCh37	8	139820025	139820025	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC097T																					ENST00000303045.6:c.1480C>T	p.Leu494Phe	p.L494F	ENST00000303045	NM_152888.1	494	Ctc/Ttc	0	not done		probablydamaging	
C9orf141		inserm.fr	GRCh37	9	139863861	139863861	+	synonymous_variant	Silent	SNP	G	A	A			CHC361TA																					ENST00000371629.1:c.42G>A	p.Pro14=	p.P14=	ENST00000371629		14	ccG/ccA	0	validated		synonymous	
ANKHD1		inserm.fr	GRCh37	5	139887376	139887376	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000297183.6:c.3558G>A	p.Gly1186=	p.G1186=	ENST00000297183	NM_020690.5	1186	ggG/ggA	0	not done		synonymous	
CLIC3		inserm.fr	GRCh37	9	139889693	139889693	+	synonymous_variant	Silent	SNP	G	A	A			CHC1719T																					ENST00000494426.1:c.321C>T	p.Asp107=	p.D107=	ENST00000494426	NM_004669.2	107	gaC/gaT	0	not done		synonymous	
ANKHD1		inserm.fr	GRCh37	5	139905613	139905613	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000297183.6:c.4525G>A	p.Ala1509Thr	p.A1509T	ENST00000297183	NM_020690.5	1509	Gca/Aca	0	not done		probablydamaging	
FUT7		inserm.fr	GRCh37	9	139925747	139925747	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000314412.6:c.444C>T	p.Asp148=	p.D148=	ENST00000314412	NM_004479.3	148	gaC/gaT	0	not done		synonymous	
ENTPD2		inserm.fr	GRCh37	9	139943181	139943181	+	synonymous_variant	Silent	SNP	G	A	A			CHC884T																					ENST00000355097.2:c.1416C>T	p.Ala472=	p.A472=	ENST00000355097	NM_001246.3	472	gcC/gcT	0	validated		synonymous	
SAPCD2		inserm.fr	GRCh37	9	139959176	139959176	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000409687.3:c.1120C>T	p.Gln374Ter	p.Q374*	ENST00000409687	NM_178448.3	374	Cag/Tag	0	not done		damaging	
NKX1-1		inserm.fr	GRCh37	4	1399786	1399786	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB151T																					ENST00000422806.1:c.334G>T	p.Ala112Ser	p.A112S	ENST00000422806		112	Gcc/Tcc	0	validated			
NKX1-1		inserm.fr	GRCh37	4	1399838	1399838	+	synonymous_variant	Silent	SNP	G	A	A			CHC2216T																					ENST00000422806.1:c.282C>T	p.Arg94=	p.R94=	ENST00000422806		94	cgC/cgT	0	not done		synonymous	
GRIN1		inserm.fr	GRCh37	9	140034017	140034017	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371553.3:c.79G>A	p.Val27Ile	p.V27I	ENST00000371553	NM_001185090.1	27	Gtc/Atc	0	not done		benign	
IK		inserm.fr	GRCh37	5	140039716	140039716	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1089T																					ENST00000417647.2:c.1291G>A	p.Asp431Asn	p.D431N	ENST00000417647	NM_006083.3	431	Gac/Aac	0	validated		benign	
GRIN1		inserm.fr	GRCh37	9	140040251	140040251	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC301T																					ENST00000371553.3:c.467G>A	p.Arg156His	p.R156H	ENST00000371553	NM_001185090.1	156	cGt/cAt	0	validated		probablydamaging	
GRIN1		inserm.fr	GRCh37	9	140052861	140052861	+	synonymous_variant	Silent	SNP	G	A	A			CHC1747T																					ENST00000371553.3:c.1062G>A	p.Gly354=	p.G354=	ENST00000371553	NM_001185090.1	354	ggG/ggA	0	validated		synonymous	
ANAPC2		inserm.fr	GRCh37	9	140069890	140069890	+	synonymous_variant	Silent	SNP	C	A	A			CHC2200T																					ENST00000323927.2:c.2055G>T	p.Val685=	p.V685=	ENST00000323927	NM_013366.3	685	gtG/gtT	0	not done		synonymous	
ANAPC2		inserm.fr	GRCh37	9	140077599	140077599	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCB231T																					ENST00000323927.2:c.1264G>T	p.Glu422Ter	p.E422*	ENST00000323927	NM_013366.3	422	Gag/Tag	0	validated		damaging	
ZMAT2		inserm.fr	GRCh37	5	140081628	140081628	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000274712.3:c.150G>A	p.Arg50=	p.R50=	ENST00000274712	NM_144723.1	50	cgG/cgA	0	not done		synonymous	
RNF208		inserm.fr	GRCh37	9	140115373	140115373	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC121T																					ENST00000392827.1:c.292C>T	p.Pro98Ser	p.P98S	ENST00000392827		98	Ccc/Tcc	0	validated		benign	
C9orf169		inserm.fr	GRCh37	9	140120351	140120351	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359069.2:c.278G>A	p.Ser93Asn	p.S93N	ENST00000359069	NM_199001.2	93	aGc/aAc	0	not done		possiblydamaging	
FAM166A		inserm.fr	GRCh37	9	140140284	140140284	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1731T																					ENST00000344774.4:c.78G>T	p.Gln26His	p.Q26H	ENST00000344774	NM_001001710.1	26	caG/caT	0	not done		probablydamaging	
C9orf173		inserm.fr	GRCh37	9	140147885	140147885	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000388931.3:c.1131C>A	p.Ile377=	p.I377=	ENST00000388931	NM_001004353.3	377	atC/atA	0	not done		synonymous	
NELFB		inserm.fr	GRCh37	9	140151333	140151333	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000343053.4:c.424G>A	p.Ala142Thr	p.A142T	ENST00000343053	NM_015456.3	142	Gcc/Acc	0	not done		probablydamaging	
PCDHA1		inserm.fr	GRCh37	5	140166012	140166012	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000504120.2:c.137G>A	p.Gly46Asp	p.G46D	ENST00000504120	NM_018900.2	46	gGc/gAc	0	not done		probablydamaging	
PCDHA1		inserm.fr	GRCh37	5	140166164	140166164	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2052T																					ENST00000504120.2:c.289C>A	p.Gln97Lys	p.Q97K	ENST00000504120	NM_018900.2	97	Cag/Aag	0	not done		benign	
PCDHA1		inserm.fr	GRCh37	5	140166985	140166985	+	synonymous_variant	Silent	SNP	C	A	A			CHC1915T																					ENST00000504120.2:c.1110C>A	p.Ala370=	p.A370=	ENST00000504120	NM_018900.2	370	gcC/gcA	0	validated		synonymous	
CLSTN2		inserm.fr	GRCh37	3	140167392	140167392	+	synonymous_variant	Silent	SNP	C	A	A			CHC1747T																					ENST00000458420.3:c.819C>A	p.Gly273=	p.G273=	ENST00000458420	NM_022131.2	273	ggC/ggA	0	not done		synonymous	
CLSTN2		inserm.fr	GRCh37	3	140167476	140167476	+	synonymous_variant	Silent	SNP	G	A	A			CHC059T																					ENST00000458420.3:c.903G>A	p.Leu301=	p.L301=	ENST00000458420	NM_022131.2	301	ctG/ctA	0	validated		synonymous	
PCDHA2		inserm.fr	GRCh37	5	140175242	140175242	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000526136.1:c.693G>A	p.Lys231=	p.K231=	ENST00000526136	NM_018905.2	231	aaG/aaA	0	not done		synonymous	
PCDHA2		inserm.fr	GRCh37	5	140176720	140176720	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1747T																					ENST00000526136.1:c.2171C>A	p.Ser724Ter	p.S724*	ENST00000526136	NM_018905.2	724	tCg/tAg	0	not done		damaging	
PCDHA4		inserm.fr	GRCh37	5	140188576	140188576	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1754T																					ENST00000530339.1:c.1804G>A	p.Gly602Ser	p.G602S	ENST00000530339	NM_018907.2	602	Ggc/Agc	0	not done		probablydamaging	
PCDHA4		inserm.fr	GRCh37	5	140188785	140188785	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000530339.1:c.2013G>A	p.Glu671=	p.E671=	ENST00000530339	NM_018907.2	671	gaG/gaA	0	not done		synonymous	
PCDHA4		inserm.fr	GRCh37	5	140189074	140189074	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T																					ENST00000530339.1:c.2302G>A	p.Asp768Asn	p.D768N	ENST00000530339	NM_018907.2	768	Gac/Aac	0	validated		probablydamaging	
GRIN2B		inserm.fr	GRCh37	12	14019092	14019092	+	synonymous_variant	Silent	SNP	G	A	A			BCM399T																					ENST00000609686.1:c.51C>T	p.Ala17=	p.A17=	ENST00000609686	NM_000834.3	17	gcC/gcT	0	validated		synonymous	
PCDHA5		inserm.fr	GRCh37	5	140201374	140201374	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2029T																					ENST00000529859.1:c.14G>A	p.Arg5Gln	p.R5Q	ENST00000529859	NM_018908.2	5	cGg/cAg	0	not done		unknown	
ERCC4		inserm.fr	GRCh37	16	14021982	14021982	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1754T																					ENST00000311895.7:c.682G>A	p.Ala228Thr	p.A228T	ENST00000311895	NM_005236.2	228	Gct/Act	0	not done		benign	
PCDHA8		inserm.fr	GRCh37	5	140222128	140222128	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000531613.1:c.1222G>A	p.Val408Met	p.V408M	ENST00000531613	NM_018911.2	408	Gtg/Atg	0	not done		benign	
CLSTN2		inserm.fr	GRCh37	3	140251324	140251324	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000458420.3:c.1503G>A	p.Trp501Ter	p.W501*	ENST00000458420	NM_022131.2	501	tgG/tgA	0	not done		damaging	
PCDHA13		inserm.fr	GRCh37	5	140263677	140263677	+	synonymous_variant	Silent	SNP	G	A	A			CHC1744T																					ENST00000289272.2:c.1824G>A	p.Ser608=	p.S608=	ENST00000289272	NM_018904.2	608	tcG/tcA	0	not done		synonymous	
PCDHA13		inserm.fr	GRCh37	5	140263707	140263707	+	synonymous_variant	Silent	SNP	G	A	A			CHC799T																					ENST00000289272.2:c.1854G>A	p.Ala618=	p.A618=	ENST00000289272	NM_018904.2	618	gcG/gcA	0	not done		synonymous	
PCDHA13		inserm.fr	GRCh37	5	140264083	140264083	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC469T																					ENST00000289272.2:c.2230G>A	p.Ala744Thr	p.A744T	ENST00000289272	NM_018904.2	744	Gcg/Acg	0	validated		benign	
EXD3		inserm.fr	GRCh37	9	140277789	140277789	+	synonymous_variant	Silent	SNP	C	A	A			CHC051T																					ENST00000340951.4:c.96G>T	p.Leu32=	p.L32=	ENST00000340951	NM_017820.3	32	ctG/ctT	0	validated		synonymous	
PCDHAC1		inserm.fr	GRCh37	5	140308447	140308447	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000253807.2:c.1970G>A	p.Ser657Asn	p.S657N	ENST00000253807	NM_018898.3	657	aGc/aAc	0	not done		probablydamaging	
PCDHAC2		inserm.fr	GRCh37	5	140346523	140346523	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM423T																					ENST00000289269.5:c.172G>A	p.Val58Met	p.V58M	ENST00000289269	NM_018899.5	58	Gtg/Atg	0	validated		probablydamaging	
PCDHAC2		inserm.fr	GRCh37	5	140346909	140346909	+	synonymous_variant	Silent	SNP	G	A	A			CHC304T																					ENST00000289269.5:c.558G>A	p.Glu186=	p.E186=	ENST00000289269	NM_018899.5	186	gaG/gaA	0	validated		synonymous	
NELF		inserm.fr	GRCh37	9	140352006	140352006	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1053T																					ENST00000371475.3:c.481C>T	p.Arg161Cys	p.R161C	ENST00000371475	NM_001130969.1	161	Cgc/Tgc	0	validated		probablydamaging	
CC2D1A		inserm.fr	GRCh37	19	14037634	14037634	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000318003.7:c.2074G>A	p.Glu692Lys	p.E692K	ENST00000318003	NM_017721.4	692	Gaa/Aaa	0	not done		probablydamaging	
GEMIN8		inserm.fr	GRCh37	X	14038629	14038629	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000380523.4:c.40C>T	p.Pro14Ser	p.P14S	ENST00000380523	NM_017856.2	14	Cct/Tct	0	not done		benign	
PCDHA1		inserm.fr	GRCh37	5	140389516	140389516	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T									Valid												ENST00000253807.2:c.2886C>A	p.Asp962Glu	p.D962E	ENST00000253807	NM_018898.3	962	gaC/gaA	0	validated		probablydamaging	
PNPLA7		inserm.fr	GRCh37	9	140400084	140400084	+	synonymous_variant	Silent	SNP	G	A	A			BCB111T																					ENST00000406427.1:c.1455C>T	p.Leu485=	p.L485=	ENST00000406427	NM_001098537.1	485	ctC/ctT	0	validated		synonymous	
PCDHB1		inserm.fr	GRCh37	5	140431340	140431340	+	synonymous_variant	Silent	SNP	T	A	A			CHC301T																					ENST00000306549.3:c.285T>A	p.Leu95=	p.L95=	ENST00000306549	NM_013340.2	95	ctT/ctA	0	validated		synonymous	
PODNL1		inserm.fr	GRCh37	19	14044062	14044062	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000339560.5:c.995C>T	p.Ala332Val	p.A332V	ENST00000339560	NM_024825.3	332	gCt/gTt	0	not done		possiblydamaging	
WDR85		inserm.fr	GRCh37	9	140458971	140458971	+	synonymous_variant	Silent	SNP	G	A	A			CHC1209T																					ENST00000277540.2:c.864C>T	p.Ile288=	p.I288=	ENST00000277540	NM_138778.2	288	atC/atT	0	not done		synonymous	
PCDHB2		inserm.fr	GRCh37	5	140474464	140474464	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCB307T									Valid												ENST00000194155.4:c.90C>A	p.Cys30Ter	p.C30*	ENST00000194155	NM_018936.2	30	tgC/tgA	0	validated		damaging	
PCDHB2		inserm.fr	GRCh37	5	140475094	140475094	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1747T																					ENST00000194155.4:c.720C>A	p.Asn240Lys	p.N240K	ENST00000194155	NM_018936.2	240	aaC/aaA	0	not done		probablydamaging	
PCDHB3		inserm.fr	GRCh37	5	140480246	140480246	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000231130.2:c.13G>A	p.Gly5Arg	p.G5R	ENST00000231130	NM_018937.2	5	Gga/Aga	0	not done		benign	
PCDHB3		inserm.fr	GRCh37	5	140481204	140481204	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000231130.2:c.971G>A	p.Gly324Asp	p.G324D	ENST00000231130	NM_018937.2	324	gGc/gAc	0	not done		probablydamaging	
PCDHB4		inserm.fr	GRCh37	5	140501613	140501613	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000194152.1:c.33G>A	p.Arg11=	p.R11=	ENST00000194152	NM_018938.2	11	agG/agA	0	not done		synonymous	
PCDHB4		inserm.fr	GRCh37	5	140503266	140503266	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC433T																					ENST00000194152.1:c.1686C>A	p.Tyr562Ter	p.Y562*	ENST00000194152	NM_018938.2	562	taC/taA	0	validated		damaging	
PCDHB5		inserm.fr	GRCh37	5	140517202	140517202	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1754T																					ENST00000231134.5:c.2186G>A	p.Gly729Asp	p.G729D	ENST00000231134	NM_015669.2	729	gGc/gAc	0	not done		possiblydamaging	
ADARB2		inserm.fr	GRCh37	10	1405236	1405236	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000381312.1:c.1064C>T	p.Thr355Met	p.T355M	ENST00000381312	NM_018702.3	355	aCg/aTg	0	validated		benign	
PCDHB6		inserm.fr	GRCh37	5	140530793	140530793	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1763T																					ENST00000231136.1:c.955G>A	p.Ala319Thr	p.A319T	ENST00000231136	NM_018939.2	319	Gct/Act	0	not done		probablydamaging	
PCDHB7		inserm.fr	GRCh37	5	140553127	140553127	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000231137.3:c.711C>A	p.Asp237Glu	p.D237E	ENST00000231137	NM_018940.2	237	gaC/gaA	0	not done		probablydamaging	
PCDHB8		inserm.fr	GRCh37	5	140558938	140558938	+	synonymous_variant	Silent	SNP	G	A	A			CHC320T																					ENST00000239444.2:c.1323G>A	p.Leu441=	p.L441=	ENST00000239444	NM_019120.3	441	ctG/ctA	0	validated		synonymous	
PCDHB10		inserm.fr	GRCh37	5	140573405	140573405	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000239446.4:c.1280G>A	p.Gly427Glu	p.G427E	ENST00000239446	NM_018930.3	427	gGg/gAg	0	not done		probablydamaging	
PCDHB14		inserm.fr	GRCh37	5	140603141	140603141	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB307T																					ENST00000239449.4:c.64G>A	p.Gly22Arg	p.G22R	ENST00000239449	NM_018934.2	22	Gga/Aga	0	validated		benign	
PCDHB14		inserm.fr	GRCh37	5	140603727	140603727	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000239449.4:c.650G>A	p.Gly217Asp	p.G217D	ENST00000239449	NM_018934.2	217	gGt/gAt	0	not done		probablydamaging	
ADARB2		inserm.fr	GRCh37	10	1406068	1406068	+	synonymous_variant	Silent	SNP	G	A	A			BCM567T																					ENST00000381312.1:c.232C>T	p.Leu78=	p.L78=	ENST00000381312	NM_018702.3	78	Ctg/Ttg	0	validated		synonymous	
PCDHB15		inserm.fr	GRCh37	5	140625437	140625437	+	synonymous_variant	Silent	SNP	C	A	A			CHC2052T																					ENST00000231173.3:c.291C>A	p.Gly97=	p.G97=	ENST00000231173	NM_018935.2	97	ggC/ggA	0	not done		synonymous	
EHMT1		inserm.fr	GRCh37	9	140638450	140638450	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000460843.1:c.1078G>A	p.Asp360Asn	p.D360N	ENST00000460843	NM_024757.4	360	Gac/Aac	0	not done		possiblydamaging	
PCDHGA1		inserm.fr	GRCh37	5	140712337	140712337	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000517417.1:c.2086G>A	p.Ala696Thr	p.A696T	ENST00000517417	NM_018912.2	696	Gcg/Acg	0	not done		benign	
PCDHGA1		inserm.fr	GRCh37	5	140712490	140712490	+	synonymous_variant	Silent	SNP	C	A	A			CHC1731T																					ENST00000517417.1:c.2239C>A	p.Arg747=	p.R747=	ENST00000517417	NM_018912.2	747	Cgg/Agg	0	validated		synonymous	
PCDHGA2		inserm.fr	GRCh37	5	140719641	140719641	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC302T																					ENST00000394576.2:c.1103T>A	p.Leu368His	p.L368H	ENST00000394576	NM_018915.2	368	cTt/cAt	0	validated		probablydamaging	
PCDHGA3		inserm.fr	GRCh37	5	140724679	140724679	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000253812.6:c.1079G>A	p.Gly360Asp	p.G360D	ENST00000253812	NM_018916.3	360	gGc/gAc	0	not done		benign	
PCDHGB1		inserm.fr	GRCh37	5	140730835	140730835	+	synonymous_variant	Silent	SNP	G	A	A			CHC2321T																					ENST00000523390.1:c.1008G>A	p.Glu336=	p.E336=	ENST00000523390	NM_018922.2	336	gaG/gaA	0	validated		synonymous	
PCDHGB1		inserm.fr	GRCh37	5	140731384	140731384	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000523390.1:c.1557G>A	p.Glu519=	p.E519=	ENST00000523390	NM_018922.2	519	gaG/gaA	0	not done		synonymous	
PCDHGA4		inserm.fr	GRCh37	5	140734829	140734829	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1556T																					ENST00000571252.1:c.62G>A	p.Gly21Glu	p.G21E	ENST00000571252	NM_018917.2	21	gGg/gAg	0	not done		probablydamaging	
PCDHGA4		inserm.fr	GRCh37	5	140735522	140735522	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1209T																					ENST00000571252.1:c.755G>A	p.Arg252His	p.R252H	ENST00000571252	NM_018917.2	252	cGt/cAt	0	not done		benign	
PCDHGA4		inserm.fr	GRCh37	5	140737098	140737098	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1763T																					ENST00000571252.1:c.2331C>A	p.Asp777Glu	p.D777E	ENST00000571252	NM_018917.2	777	gaC/gaA	0	not done		probablydamaging	
PCDHGB2		inserm.fr	GRCh37	5	140740400	140740400	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000522605.1:c.698C>A	p.Thr233Lys	p.T233K	ENST00000522605	NM_018923.2	233	aCg/aAg	0	not done		benign	
PCDHGA5		inserm.fr	GRCh37	5	140744349	140744349	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2362T																					ENST00000518069.1:c.452G>A	p.Arg151Gln	p.R151Q	ENST00000518069	NM_018918.2	151	cGg/cAg	0	validated		probablydamaging	
PCDHGA6		inserm.fr	GRCh37	5	140753716	140753716	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000517434.1:c.66G>A	p.Thr22=	p.T22=	ENST00000517434	NM_018919.2	22	acG/acA	0	validated		synonymous	
PRDM2		inserm.fr	GRCh37	1	14075907	14075907	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2052T																					ENST00000235372.7:c.436C>A	p.Pro146Thr	p.P146T	ENST00000235372	NM_012231.4	146	Cct/Act	0	validated		benign	
PCDHGA7		inserm.fr	GRCh37	5	140762470	140762470	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000518325.1:c.4G>A	p.Ala2Thr	p.A2T	ENST00000518325	NM_018920.2	2	Gcg/Acg	0	not done		benign	
PCDHGA7		inserm.fr	GRCh37	5	140762913	140762913	+	synonymous_variant	Silent	SNP	G	A	A			CHC433T																					ENST00000518325.1:c.447G>A	p.Gly149=	p.G149=	ENST00000518325	NM_018920.2	149	ggG/ggA	0	validated		synonymous	
RFX1		inserm.fr	GRCh37	19	14076490	14076490	+	synonymous_variant	Silent	SNP	C	A	A			CHC097T																					ENST00000254325.4:c.2061G>T	p.Leu687=	p.L687=	ENST00000254325	NM_002918.4	687	ctG/ctT	0	not done		synonymous	
TMEM178B		inserm.fr	GRCh37	7	140774242	140774242	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000565468.1:c.132G>A	p.Lys44=	p.K44=	ENST00000565468	NM_001195278.1	44	aaG/aaA	0	not done		synonymous	
CACNA1B		inserm.fr	GRCh37	9	140777226	140777226	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC451T																					ENST00000371372.1:c.421T>A	p.Phe141Ile	p.F141I	ENST00000371372	NM_001243812.1	141	Ttt/Att	0	validated		probablydamaging	
PCDHGB4		inserm.fr	GRCh37	5	140778647	140778647	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000253812.6:c.2424+52623G>A		*808*	ENST00000253812	NM_018916.3			0	not done		benign	
PCDHGB5		inserm.fr	GRCh37	5	140779096	140779096	+	intron_variant	Intron	SNP	G	A	A			BCM723T																					ENST00000253812.6:c.2424+53072G>A		*808*	ENST00000253812	NM_018916.3			0	validated		benign	
SPSB4		inserm.fr	GRCh37	3	140785256	140785256	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1725T																					ENST00000310546.2:c.310T>A	p.Trp104Arg	p.W104R	ENST00000310546	NM_080862.1	104	Tgg/Agg	0	not done		probablydamaging	
PCDHGA10		inserm.fr	GRCh37	5	140793061	140793061	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000398610.2:c.319G>A	p.Val107Met	p.V107M	ENST00000398610	NM_018913.2	107	Gtg/Atg	0	not done		benign	
PCDHGB7		inserm.fr	GRCh37	5	140799640	140799640	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000398594.2:c.2214G>A	p.Val738=	p.V738=	ENST00000398594	NM_018927.3	738	gtG/gtA	0	not done		synonymous	
CACNA1B		inserm.fr	GRCh37	9	140807716	140807716	+	synonymous_variant	Silent	SNP	G	A	A			CHC1205T																					ENST00000371372.1:c.615G>A	p.Gly205=	p.G205=	ENST00000371372	NM_001243812.1	205	ggG/ggA	0	not done		synonymous	
PCDHGA12		inserm.fr	GRCh37	5	140810977	140810977	+	synonymous_variant	Silent	SNP	G	A	A			CHC1915T																					ENST00000252085.3:c.651G>A	p.Gly217=	p.G217=	ENST00000252085	NM_003735.2	217	ggG/ggA	0	validated		synonymous	
PCDHGA12		inserm.fr	GRCh37	5	140812553	140812553	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM683T																					ENST00000252085.3:c.2227G>A	p.Val743Met	p.V743M	ENST00000252085	NM_003735.2	743	Gtg/Atg	0	validated		benign	
CACNA1B		inserm.fr	GRCh37	9	140846742	140846742	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371372.1:c.983G>A	p.Gly328Asp	p.G328D	ENST00000371372	NM_001243812.1	328	gGc/gAc	0	not done		probablydamaging	
PCDHGC3		inserm.fr	GRCh37	5	140855933	140855933	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000308177.3:c.250G>A	p.Gly84Arg	p.G84R	ENST00000308177	NM_002588.2	84	Gga/Aga	0	not done		probablydamaging	
PCDHGC5		inserm.fr	GRCh37	5	140868839	140868839	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2052T																					ENST00000252087.1:c.32G>A	p.Gly11Glu	p.G11E	ENST00000252087	NM_018929.2	11	gGg/gAg	0	not done		benign	
CACNA1B		inserm.fr	GRCh37	9	140880864	140880864	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000371372.1:c.1770-1G>A		p.X590_splice	ENST00000371372	NM_001243812.1			0	not done		damaging	
CACNA1B		inserm.fr	GRCh37	9	140919475	140919475	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC327T									Valid												ENST00000371372.1:c.3137C>A	p.Thr1046Asn	p.T1046N	ENST00000371372	NM_001243812.1	1046	aCc/aAc	0	validated		benign	
MAGEC3		inserm.fr	GRCh37	X	140953386	140953386	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1211T																					ENST00000298296.1:c.253T>A	p.Phe85Ile	p.F85I	ENST00000298296	NM_138702.1	85	Ttc/Atc	0	not done		benign	
CACNA1B		inserm.fr	GRCh37	9	140953581	140953581	+	synonymous_variant	Silent	SNP	C	A	A			CHC609T																					ENST00000371372.1:c.4524C>A	p.Ile1508=	p.I1508=	ENST00000371372	NM_001243812.1	1508	atC/atA	0	validated		synonymous	
CACNA1B		inserm.fr	GRCh37	9	140972582	140972582	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371372.1:c.4966G>A	p.Ala1656Thr	p.A1656T	ENST00000371372	NM_001243812.1	1656	Gcc/Acc	0	not done		probablydamaging	
MAGEC3		inserm.fr	GRCh37	X	140985040	140985040	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2128T																					ENST00000298296.1:c.1496G>A	p.Gly499Glu	p.G499E	ENST00000298296	NM_138702.1	499	gGg/gAg	0	not done		benign	
CACNA1B		inserm.fr	GRCh37	9	141015154	141015154	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1745T									Valid												ENST00000371372.1:c.6310C>A	p.Arg2104Ser	p.R2104S	ENST00000371372	NM_001243812.1	2104	Cgc/Agc	0	validated		probablydamaging	
CACNA1B		inserm.fr	GRCh37	9	141016120	141016120	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB231T																					ENST00000371372.1:c.6689G>A	p.Arg2230His	p.R2230H	ENST00000371372	NM_001243812.1	2230	cGt/cAt	0	validated		probablydamaging	
CACNA1B		inserm.fr	GRCh37	9	141016310	141016310	+	synonymous_variant	Silent	SNP	G	A	A			CHC1052T																					ENST00000371372.1:c.6879G>A	p.Arg2293=	p.R2293=	ENST00000371372	NM_001243812.1	2293	agG/agA	0	validated		synonymous	
ARAP3		inserm.fr	GRCh37	5	141039416	141039416	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1600T																					ENST00000239440.4:c.3197C>T	p.Thr1066Met	p.T1066M	ENST00000239440	NM_022481.5	1066	aCg/aTg	0	not done		probablydamaging	
PRDM2		inserm.fr	GRCh37	1	14104972	14104972	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000235372.7:c.682C>A	p.Gln228Lys	p.Q228K	ENST00000235372	NM_012231.4	228	Cag/Aag	0	not done		probablydamaging	
TPRXL		inserm.fr	GRCh37	3	14105924	14105924	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM543T																					ENST00000424053.1:c.248C>A	p.Pro83His	p.P83H	ENST00000424053		83	cCc/cAc	0	validated			
PRDM2		inserm.fr	GRCh37	1	14108487	14108487	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000235372.7:c.4197G>A	p.Gln1399=	p.Q1399=	ENST00000235372	NM_012231.4	1399	caG/caA	0	not done		synonymous	
LRP1B		inserm.fr	GRCh37	2	141092081	141092081	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1708T																					ENST00000389484.3:c.12164C>T	p.Ala4055Val	p.A4055V	ENST00000389484	NM_018557.2	4055	gCa/gTa	0	not done		possiblydamaging	
LRP1B		inserm.fr	GRCh37	2	141143571	141143571	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1594T																					ENST00000389484.3:c.10422G>T	p.Lys3474Asn	p.K3474N	ENST00000389484	NM_018557.2	3474	aaG/aaT	0	not done		probablydamaging	
LRP1B		inserm.fr	GRCh37	2	141232900	141232900	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1742T																					ENST00000389484.3:c.9432G>T	p.Leu3144Phe	p.L3144F	ENST00000389484	NM_018557.2	3144	ttG/ttT	0	not done		probablydamaging	
LRP1B		inserm.fr	GRCh37	2	141259274	141259274	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000389484.3:c.8832C>T	p.Asp2944=	p.D2944=	ENST00000389484	NM_018557.2	2944	gaC/gaT	0	not done		synonymous	
MAGEC2		inserm.fr	GRCh37	X	141291551	141291551	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1183T																					ENST00000247452.3:c.223G>T	p.Val75Leu	p.V75L	ENST00000247452	NM_016249.3	75	Gtg/Ttg	0	not done		benign	
MAGEC2		inserm.fr	GRCh37	X	141291700	141291700	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC703T																					ENST00000247452.3:c.74G>T	p.Trp25Leu	p.W25L	ENST00000247452	NM_016249.3	25	tGg/tTg	0	validated		probablydamaging	
KIAA0141		inserm.fr	GRCh37	5	141309275	141309275	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000432126.2:c.541G>A	p.Gly181Arg	p.G181R	ENST00000432126	NM_014773.3	181	Gga/Aga	0	not done		benign	
PCDH12		inserm.fr	GRCh37	5	141325356	141325356	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM501T									Valid												ENST00000231484.3:c.3145C>T	p.Arg1049Trp	p.R1049W	ENST00000231484	NM_016580.3	1049	Cgg/Tgg	0	validated		probablydamaging	
RASA2		inserm.fr	GRCh37	3	141327409	141327409	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000286364.3:c.2095G>A	p.Val699Ile	p.V699I	ENST00000286364		699	Gta/Ata	0	validated		benign	
CLGN		inserm.fr	GRCh37	4	141334123	141334123	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC302T									Valid												ENST00000325617.5:c.110A>T	p.Glu37Val	p.E37V	ENST00000325617	NM_004362.2	37	gAa/gTa	0	validated		possiblydamaging	
CD83		inserm.fr	GRCh37	6	14135384	14135384	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000379153.3:c.535G>A	p.Gly179Ser	p.G179S	ENST00000379153	NM_001040280.1	179	Ggc/Agc	0	not done		benign	
KIAA1147		inserm.fr	GRCh37	7	141362497	141362497	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC433T																					ENST00000536163.1:c.1327A>T	p.Ile443Phe	p.I443F	ENST00000536163	NM_001080392.1	443	Att/Ttt	0	validated		benign	
RP11-542P2.1		inserm.fr	GRCh37	4	141392935	141392935	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM325T																					ENST00000503109.2:c.566C>T	p.Thr189Ile	p.T189I	ENST00000503109		189	aCa/aTa	0	validated			
CDRT15		inserm.fr	GRCh37	17	14139702	14139702	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC253T																					ENST00000420162.2:c.308C>T	p.Ala103Val	p.A103V	ENST00000420162	NM_001007530.1	103	gCg/gTg	0	validated		benign	
LRP1B		inserm.fr	GRCh37	2	141457977	141457977	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000389484.3:c.6641C>T	p.Pro2214Leu	p.P2214L	ENST00000389484	NM_018557.2	2214	cCa/cTa	0	not done		possiblydamaging	
TRAPPC9		inserm.fr	GRCh37	8	141460993	141460993	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC301T									Valid												ENST00000389328.4:c.774G>T	p.Glu258Asp	p.E258D	ENST00000389328	NM_031466.5	258	gaG/gaT	0	validated		probablydamaging	
GRK7		inserm.fr	GRCh37	3	141535875	141535875	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC896T																					ENST00000264952.2:c.1645G>A	p.Val549Met	p.V549M	ENST00000264952	NM_139209.2	549	Gtg/Atg	0	not done		probablydamaging	
EIF2C2		inserm.fr	GRCh37	8	141559319	141559319	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000220592.5:c.1482C>T	p.Tyr494=	p.Y494=	ENST00000220592	NM_012154.3	494	taC/taT	0	validated		synonymous	
TBC1D9		inserm.fr	GRCh37	4	141590857	141590857	+	synonymous_variant	Silent	SNP	G	A	A			CHC1731T																					ENST00000442267.2:c.1368C>T	p.Val456=	p.V456=	ENST00000442267	NM_015130.2	456	gtC/gtT	0	not done		synonymous	
TBC1D9		inserm.fr	GRCh37	4	141600105	141600105	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC805T																					ENST00000442267.2:c.842C>T	p.Ala281Val	p.A281V	ENST00000442267	NM_015130.2	281	gCt/gTt	0	not done		benign	
TBC1D9		inserm.fr	GRCh37	4	141607497	141607497	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC1747T																					ENST00000442267.2:c.360+1G>T		p.X120_splice	ENST00000442267	NM_015130.2			0	not done		damaging	
IL27RA		inserm.fr	GRCh37	19	14161613	14161613	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000263379.2:c.1446G>A	p.Trp482Ter	p.W482*	ENST00000263379	NM_004843.3	482	tgG/tgA	0	not done		damaging	
IL27RA		inserm.fr	GRCh37	19	14162724	14162724	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1738T																					ENST00000263379.2:c.1655G>A	p.Arg552His	p.R552H	ENST00000263379	NM_004843.3	552	cGc/cAc	0	not done		benign	
TAS2R38		inserm.fr	GRCh37	7	141672961	141672961	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB111T									Valid												ENST00000547270.1:c.529A>T	p.Asn177Tyr	p.N177Y	ENST00000547270	NM_176817.4	177	Aat/Tat	0	validated		possiblydamaging	
PALM3		inserm.fr	GRCh37	19	14167513	14167513	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1148T																					ENST00000340790.4:c.230C>T	p.Ala77Val	p.A77V	ENST00000340790	NM_001145028.1	77	gCt/gTt	0	not done		probablydamaging	
TBC1D9		inserm.fr	GRCh37	4	141677079	141677079	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM759T																					ENST00000442267.2:c.121G>T	p.Gly41Ter	p.G41*	ENST00000442267	NM_015130.2	41	Gga/Tga	0	validated		damaging	
SPRY4		inserm.fr	GRCh37	5	141694083	141694083	+	synonymous_variant	Silent	SNP	G	A	A			CHC2052T																					ENST00000344120.4:c.660C>T	p.Gly220=	p.G220=	ENST00000344120	NM_030964.3	220	ggC/ggT	0	not done		synonymous	
SPRY4		inserm.fr	GRCh37	5	141694084	141694084	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2052T																					ENST00000344120.4:c.659G>T	p.Gly220Val	p.G220V	ENST00000344120	NM_030964.3	220	gGc/gTc	0	not done		benign	
LRP1B		inserm.fr	GRCh37	2	141707824	141707824	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC961T																					ENST00000389484.3:c.3116A>T	p.Gln1039Leu	p.Q1039L	ENST00000389484	NM_018557.2	1039	cAg/cTg	0	validated		benign	
MGAM		inserm.fr	GRCh37	7	141719043	141719043	+	synonymous_variant	Silent	SNP	T	A	A			BCM399T																					ENST00000549489.2:c.372T>A	p.Ala124=	p.A124=	ENST00000549489	NM_004668.2	124	gcT/gcA	0	validated		synonymous	
TMEM43		inserm.fr	GRCh37	3	14172323	14172323	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000306077.4:c.164G>A	p.Gly55Asp	p.G55D	ENST00000306077	NM_024334.2	55	gGc/gAc	0	not done		probablydamaging	
MGAM		inserm.fr	GRCh37	7	141752229	141752229	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1602T																					ENST00000549489.2:c.2941C>A	p.Arg981Ser	p.R981S	ENST00000549489	NM_004668.2	981	Cgt/Agt	0	not done		probablydamaging	
MGAM		inserm.fr	GRCh37	7	141765139	141765139	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1044T																					ENST00000549489.2:c.4489G>A	p.Val1497Met	p.V1497M	ENST00000549489	NM_004668.2	1497	Gtg/Atg	0	not done		benign	
MGAM		inserm.fr	GRCh37	7	141795483	141795483	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000549489.2:c.4889G>A	p.Gly1630Asp	p.G1630D	ENST00000549489	NM_004668.2	1630	gGc/gAc	0	not done		probablydamaging	
MGAM		inserm.fr	GRCh37	7	141800680	141800680	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000549489.2:c.5265G>A	p.Gly1755=	p.G1755=	ENST00000549489	NM_004668.2	1755	ggG/ggA	0	not done		synonymous	
LRP1B		inserm.fr	GRCh37	2	141806660	141806660	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC313T									Valid												ENST00000389484.3:c.1684G>T	p.Asp562Tyr	p.D562Y	ENST00000389484	NM_018557.2	562	Gac/Tac	0	validated		probablydamaging	
DAZAP1		inserm.fr	GRCh37	19	1418325	1418325	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000233078.4:c.193G>A	p.Gly65Arg	p.G65R	ENST00000233078	NM_018959.2	65	Ggg/Agg	0	not done		benign	
LRP1B		inserm.fr	GRCh37	2	141946045	141946045	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000389484.3:c.958C>T	p.Leu320=	p.L320=	ENST00000389484	NM_018557.2	320	Ctg/Ttg	0	not done		synonymous	
FGF1		inserm.fr	GRCh37	5	141975046	141975046	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC361TA																					ENST00000359370.6:c.277A>T	p.Thr93Ser	p.T93S	ENST00000359370	NM_001257212.1	93	Aca/Tca	0	validated		damaging	
HS3ST3B1		inserm.fr	GRCh37	17	14205331	14205331	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1746T																					ENST00000360954.2:c.496G>A	p.Val166Met	p.V166M	ENST00000360954	NM_006041.1	166	Gtg/Atg	0	not done		probablydamaging	
HS3ST3B1		inserm.fr	GRCh37	17	14205374	14205374	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000360954.2:c.539G>A	p.Gly180Asp	p.G180D	ENST00000360954	NM_006041.1	180	gGc/gAc	0	not done		probablydamaging	
XPC		inserm.fr	GRCh37	3	14209838	14209838	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB231T																					ENST00000285021.7:c.455C>T	p.Ala152Val	p.A152V	ENST00000285021	NM_004628.4	152	gCc/gTc	0	validated		benign	
XPC		inserm.fr	GRCh37	3	14209839	14209839	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB231T																					ENST00000285021.7:c.454G>T	p.Ala152Ser	p.A152S	ENST00000285021	NM_004628.4	152	Gcc/Tcc	0	validated		benign	
DENND3		inserm.fr	GRCh37	8	142146813	142146813	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1601T																					ENST00000262585.2:c.68C>A	p.Pro23His	p.P23H	ENST00000262585	NM_014957.2	23	cCc/cAc	0	not done		possiblydamaging	
SLC6A3		inserm.fr	GRCh37	5	1422020	1422020	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000270349.9:c.763C>T	p.Leu255Phe	p.L255F	ENST00000270349	NM_001044.4	255	Ctc/Ttc	0	not done		possiblydamaging	
SLC45A4		inserm.fr	GRCh37	8	142222349	142222349	+	synonymous_variant	Silent	SNP	G	A	A			CHC2113T																					ENST00000024061.3:c.2095C>T	p.Leu699=	p.L699=	ENST00000024061	NM_001080431.1	699	Ctg/Ttg	0	not done		synonymous	
SLC45A4		inserm.fr	GRCh37	8	142222604	142222604	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1566T																					ENST00000024061.3:c.1840G>T	p.Ala614Ser	p.A614S	ENST00000024061	NM_001080431.1	614	Gcc/Tcc	0	not done		possiblydamaging	
SLC45A4		inserm.fr	GRCh37	8	142226069	142226069	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000024061.3:c.1577C>T	p.Ala526Val	p.A526V	ENST00000024061	NM_001080431.1	526	gCc/gTc	0	not done		probablydamaging	
SLC45A4		inserm.fr	GRCh37	8	142227208	142227208	+	synonymous_variant	Silent	SNP	G	A	A			CHC1598T																					ENST00000024061.3:c.1557C>T	p.Ala519=	p.A519=	ENST00000024061	NM_001080431.1	519	gcC/gcT	0	not done		synonymous	
ATR		inserm.fr	GRCh37	3	142231172	142231172	+	synonymous_variant	Silent	SNP	G	A	A			CHC121T																					ENST00000350721.4:c.4782C>T	p.His1594=	p.H1594=	ENST00000350721	NM_001184.3	1594	caC/caT	0	validated		synonymous	
ATR		inserm.fr	GRCh37	3	142231173	142231173	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC121T																					ENST00000350721.4:c.4781A>T	p.His1594Leu	p.H1594L	ENST00000350721	NM_001184.3	1594	cAc/cTc	0	validated		probablydamaging	
ATR		inserm.fr	GRCh37	3	142231295	142231295	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC097T																					ENST00000350721.4:c.4659G>T	p.Met1553Ile	p.M1553I	ENST00000350721	NM_001184.3	1553	atG/atT	0	not done		possiblydamaging	
ATR		inserm.fr	GRCh37	3	142281873	142281873	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1201T																					ENST00000350721.4:c.371G>T	p.Cys124Phe	p.C124F	ENST00000350721	NM_001184.3	124	tGt/tTt	0	not done		probablydamaging	
GPR20		inserm.fr	GRCh37	8	142367076	142367076	+	synonymous_variant	Silent	SNP	T	A	A			CHC889T																					ENST00000377741.3:c.948A>T	p.Gly316=	p.G316=	ENST00000377741	NM_005293.2	316	ggA/ggT	0	not done		synonymous	
LSM3		inserm.fr	GRCh37	3	14239571	14239571	+	synonymous_variant	Silent	SNP	G	A	A			CHC1756T																					ENST00000306024.3:c.264G>A	p.Arg88=	p.R88=	ENST00000306024	NM_014463.2	88	cgG/cgA	0	not done		synonymous	
PRSS1		inserm.fr	GRCh37	7	142459627	142459627	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			BCM711T																					ENST00000311737.7:c.203G>A	p.Arg68His	p.R68H	ENST00000311737	NM_002769.4	68	cGc/cAc	0	validated		benign	
PRSS1		inserm.fr	GRCh37	7	142459856	142459856	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1207T																					ENST00000311737.7:c.432G>A	p.Trp144Ter	p.W144*	ENST00000311737	NM_002769.4	144	tgG/tgA	0	not done		damaging	
MROH5		inserm.fr	GRCh37	8	142476518	142476518	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB231T																					ENST00000430863.1:c.2468C>T	p.Pro823Leu	p.P823L	ENST00000430863	NM_207414.2	823	cCc/cTc	0	validated		benign	
HS3ST3B1		inserm.fr	GRCh37	17	14248940	14248940	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1209T																					ENST00000360954.2:c.1150G>A	p.Gly384Arg	p.G384R	ENST00000360954	NM_006041.1	384	Ggg/Agg	0	not done		probablydamaging	
MROH5		inserm.fr	GRCh37	8	142506423	142506423	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2141T																					ENST00000521161.1:c.154G>T	p.Ala52Ser	p.A52S	ENST00000521161		52	Gca/Tca	0	not done		benign	
EPHB6		inserm.fr	GRCh37	7	142562022	142562022	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1717T																					ENST00000392957.2:c.464T>A	p.Val155Glu	p.V155E	ENST00000392957	NM_004445.4	155	gTg/gAg	0	not done		probablydamaging	
EPHB6		inserm.fr	GRCh37	7	142568064	142568064	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1152T																					ENST00000392957.2:c.2705G>A	p.Arg902His	p.R902H	ENST00000392957	NM_004445.4	902	cGt/cAt	0	not done		probablydamaging	
LPHN1		inserm.fr	GRCh37	19	14261974	14261974	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000340736.6:c.4136C>T	p.Pro1379Leu	p.P1379L	ENST00000340736	NM_001008701.2	1379	cCt/cTt	0	not done		probablydamaging	
LPHN1		inserm.fr	GRCh37	19	14263208	14263208	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000340736.6:c.3577C>T	p.Pro1193Ser	p.P1193S	ENST00000340736	NM_001008701.2	1193	Ccc/Tcc	0	not done		benign	
C7orf34		inserm.fr	GRCh37	7	142636741	142636741	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC451T																					ENST00000409607.3:c.98T>A	p.Leu33His	p.L33H	ENST00000409607	NM_178829.4	33	cTc/cAc	0	validated		probablydamaging	
KEL		inserm.fr	GRCh37	7	142658516	142658516	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1629T																					ENST00000355265.2:c.154A>T	p.Ile52Phe	p.I52F	ENST00000355265	NM_000420.2	52	Atc/Ttc	0	not done		benign	
LPHN1		inserm.fr	GRCh37	19	14266316	14266316	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000340736.6:c.3164C>T	p.Ala1055Val	p.A1055V	ENST00000340736	NM_001008701.2	1055	gCg/gTg	0	not done		benign	
LPHN1		inserm.fr	GRCh37	19	14269273	14269273	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000340736.6:c.2256C>T	p.Gly752=	p.G752=	ENST00000340736	NM_001008701.2	752	ggC/ggT	0	not done		synonymous	
LPHN1		inserm.fr	GRCh37	19	14270969	14270969	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000340736.6:c.1770C>T	p.Ala590=	p.A590=	ENST00000340736	NM_001008701.2	590	gcC/gcT	0	not done		synonymous	
GPR126		inserm.fr	GRCh37	6	142723925	142723925	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1044T																					ENST00000367609.3:c.1913T>A	p.Ile638Asn	p.I638N	ENST00000367609	NM_198569.2	638	aTc/aAc	0	validated		probablydamaging	
GPR126		inserm.fr	GRCh37	6	142738485	142738485	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000367609.3:c.3014G>A	p.Gly1005Glu	p.G1005E	ENST00000367609	NM_198569.2	1005	gGg/gAg	0	not done		probablydamaging	
LPHN1		inserm.fr	GRCh37	19	14274166	14274166	+	synonymous_variant	Silent	SNP	G	A	A			CHC1712T																					ENST00000340736.6:c.462C>T	p.His154=	p.H154=	ENST00000340736	NM_001008701.2	154	caC/caT	0	not done		synonymous	
SPON1		inserm.fr	GRCh37	11	14276188	14276188	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			BCB307T																					ENST00000310358.7:n.1540G>A		*514*	ENST00000310358				0	validated			
SPANXN2		inserm.fr	GRCh37	X	142803727	142803727	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC961T									Valid												ENST00000370498.1:c.36G>T	p.Lys12Asn	p.K12N	ENST00000370498	NM_001009615.1	12	aaG/aaT	0	validated		possiblydamaging	
CHST2		inserm.fr	GRCh37	3	142839862	142839862	+	synonymous_variant	Silent	SNP	C	A	A			CHC961T																					ENST00000309575.3:c.204C>A	p.Leu68=	p.L68=	ENST00000309575	NM_004267.4	68	ctC/ctA	0	validated		synonymous	
CHST2		inserm.fr	GRCh37	3	142839997	142839997	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000309575.3:c.339G>A	p.Pro113=	p.P113=	ENST00000309575	NM_004267.4	113	ccG/ccA	0	not done		synonymous	
TRIO		inserm.fr	GRCh37	5	14291235	14291235	+	synonymous_variant	Silent	SNP	G	A	A			CHC1205T																					ENST00000344204.4:c.951G>A	p.Arg317=	p.R317=	ENST00000344204	NM_007118.2	317	cgG/cgA	0	not done		synonymous	
UBE2NL		inserm.fr	GRCh37	X	142967545	142967545	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1085T																					ENST00000370494.1:c.343G>A	p.Ala115Thr	p.A115T	ENST00000370494	NM_001012989.1	115	Gct/Act	0	validated		benign	
UBE2NL		inserm.fr	GRCh37	X	142967639	142967639	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370494.1:c.437G>A	p.Arg146Lys	p.R146K	ENST00000370494	NM_001012989.1	146	aGg/aAg	0	not done		benign	
SLC9A9		inserm.fr	GRCh37	3	142985572	142985572	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM339T																					ENST00000316549.6:c.1910A>T	p.Gln637Leu	p.Q637L	ENST00000316549	NM_173653.3	637	cAa/cTa	0	validated		benign	
FAM131B		inserm.fr	GRCh37	7	143057173	143057173	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC805T																					ENST00000443739.2:c.98G>T	p.Ser33Ile	p.S33I	ENST00000443739	NM_001031690.2	33	aGc/aTc	0	not done		probablydamaging	
HIVEP2		inserm.fr	GRCh37	6	143074865	143074865	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000367603.2:c.6720G>T	p.Met2240Ile	p.M2240I	ENST00000367603	NM_006734.3	2240	atG/atT	0	not done		benign	
FLRT3		inserm.fr	GRCh37	20	14308106	14308106	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1035T																					ENST00000378053.3:c.47G>T	p.Gly16Val	p.G16V	ENST00000378053	NM_013281.3	16	gGg/gTg	0	validated		benign	
INPP4B		inserm.fr	GRCh37	4	143081587	143081587	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC796T																					ENST00000262992.4:c.1487G>T	p.Ser496Ile	p.S496I	ENST00000262992	NM_001101669.1	496	aGt/aTt	0	validated		benign	
HIVEP2		inserm.fr	GRCh37	6	143094363	143094363	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000367603.2:c.1513C>T	p.Pro505Ser	p.P505S	ENST00000367603	NM_006734.3	505	Ccc/Tcc	0	not done		benign	
MKL2		inserm.fr	GRCh37	16	14311048	14311048	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T									Valid												ENST00000318282.5:c.418G>A	p.Asp140Asn	p.D140N	ENST00000318282		140	Gat/Aat	0	validated		probablydamaging	
INPP4B		inserm.fr	GRCh37	4	143114308	143114308	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000262992.4:c.1113C>T	p.Ala371=	p.A371=	ENST00000262992	NM_001101669.1	371	gcC/gcT	0	not done		synonymous	
TAS2R60		inserm.fr	GRCh37	7	143140579	143140579	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000332690.1:c.34G>A	p.Val12Met	p.V12M	ENST00000332690	NM_177437.1	12	Gtg/Atg	0	not done		benign	
TRIO		inserm.fr	GRCh37	5	14316768	14316768	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000344204.4:c.1647G>A	p.Arg549=	p.R549=	ENST00000344204	NM_007118.2	549	cgG/cgA	0	not done		synonymous	
TSNARE1		inserm.fr	GRCh37	8	143395765	143395765	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000307180.3:c.1111G>T	p.Ala371Ser	p.A371S	ENST00000307180	NM_145003.3	371	Gcg/Tcg	0	not done		possiblydamaging	
TSNARE1		inserm.fr	GRCh37	8	143436027	143436027	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM423T																					ENST00000307180.3:c.59G>T	p.Gly20Val	p.G20V	ENST00000307180	NM_145003.3	20	gGa/gTa	0	validated		possiblydamaging	
BAI1		inserm.fr	GRCh37	8	143565367	143565367	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000517894.1:c.2160G>A	p.Leu720=	p.L720=	ENST00000517894		720	ttG/ttA	0	not done		synonymous	
SLC9A9		inserm.fr	GRCh37	3	143567106	143567106	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000316549.6:c.59G>T	p.Gly20Val	p.G20V	ENST00000316549	NM_173653.3	20	gGa/gTa	0	not done		probablydamaging	
KCTD16		inserm.fr	GRCh37	5	143586327	143586327	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC884T																					ENST00000507359.3:c.50C>A	p.Ser17Tyr	p.S17Y	ENST00000507359	NM_020768.3	17	tCc/tAc	0	validated		benign	
BAI1		inserm.fr	GRCh37	8	143623358	143623358	+	synonymous_variant	Silent	SNP	C	A	A			CHC1598T																					ENST00000517894.1:c.3763C>A	p.Arg1255=	p.R1255=	ENST00000517894		1255	Cgg/Agg	0	not done		synonymous	
ARC		inserm.fr	GRCh37	8	143694966	143694966	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000356613.2:c.667C>T	p.His223Tyr	p.H223Y	ENST00000356613	NM_015193.4	223	Cac/Tac	0	not done		possiblydamaging	
ARC		inserm.fr	GRCh37	8	143695314	143695314	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000356613.2:c.319C>T	p.Arg107Cys	p.R107C	ENST00000356613	NM_015193.4	107	Cgc/Tgc	0	validated		probablydamaging	
JRK		inserm.fr	GRCh37	8	143746274	143746274	+	non_coding_transcript_exon_variant	RNA	SNP	C	A	A			CHC1611T																					ENST00000507178.2:n.1537G>T		*513*	ENST00000507178				0	not done		damaging	
PSCA		inserm.fr	GRCh37	8	143763465	143763465	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000301258.4:c.260G>A	p.Gly87Glu	p.G87E	ENST00000301258	NM_005672.4	87	gGg/gAg	0	not done		probablydamaging	
LY6K		inserm.fr	GRCh37	8	143781976	143781976	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000292430.6:c.31G>A	p.Ala11Thr	p.A11T	ENST00000292430		11	Gcc/Acc	0	validated		possiblydamaging	
LY6K		inserm.fr	GRCh37	8	143784767	143784767	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1598T																					ENST00000292430.6:c.476C>A	p.Ala159Glu	p.A159E	ENST00000292430		159	gCa/gAa	0	not done		benign	
OR2A2		inserm.fr	GRCh37	7	143807045	143807045	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000408979.2:c.370G>A	p.Ala124Thr	p.A124T	ENST00000408979	NM_001005480.2	124	Gcc/Acc	0	not done		probablydamaging	
SLURP1		inserm.fr	GRCh37	8	143822629	143822629	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000246515.1:c.244C>T	p.Pro82Ser	p.P82S	ENST00000246515	NM_020427.2	82	Ccc/Tcc	0	not done		probablydamaging	
LYNX1		inserm.fr	GRCh37	8	143856736	143856736	+	intron_variant	Intron	SNP	C	A	A			CHC1717T																					ENST00000335822.5:c.154+275G>T		*52*	ENST00000335822	NM_023946.2			0	not done		benign	
GML		inserm.fr	GRCh37	8	143927988	143927988	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000220940.1:c.359G>A	p.Arg120Lys	p.R120K	ENST00000220940	NM_002066.2	120	aGg/aAg	0	not done		benign	
CYP11B2		inserm.fr	GRCh37	8	143993989	143993989	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC432T																					ENST00000323110.2:c.1355G>T	p.Gly452Val	p.G452V	ENST00000323110	NM_000498.3	452	gGg/gTg	0	not done		probablydamaging	
CYP11B2		inserm.fr	GRCh37	8	143996200	143996200	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1751T																					ENST00000323110.2:c.720G>T	p.Met240Ile	p.M240I	ENST00000323110	NM_000498.3	240	atG/atT	0	not done		benign	
CYP11B2		inserm.fr	GRCh37	8	143996618	143996618	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM375T																					ENST00000323110.2:c.439G>T	p.Asp147Tyr	p.D147Y	ENST00000323110	NM_000498.3	147	Gat/Tat	0	validated		benign	
ARHGEF5		inserm.fr	GRCh37	7	144060032	144060032	+	synonymous_variant	Silent	SNP	G	A	A			CHC1061T																					ENST00000056217.5:c.270G>A	p.Gln90=	p.Q90=	ENST00000056217	NM_005435.3	90	caG/caA	0	validated		synonymous	
NOBOX		inserm.fr	GRCh37	7	144096129	144096129	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000467773.1:c.1383C>T	p.His461=	p.H461=	ENST00000467773	NM_001080413.3	461	caC/caT	0	not done		synonymous	
NOBOX		inserm.fr	GRCh37	7	144098157	144098157	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1600T																					ENST00000467773.1:c.826C>T	p.Arg276Ter	p.R276*	ENST00000467773	NM_001080413.3	276	Cga/Tga	0	not done		damaging	
NOBOX		inserm.fr	GRCh37	7	144098555	144098555	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1746T																					ENST00000467773.1:c.428C>T	p.Pro143Leu	p.P143L	ENST00000467773	NM_001080413.3	143	cCg/cTg	0	not done		benign	
USP38		inserm.fr	GRCh37	4	144107085	144107085	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000307017.4:c.482G>A	p.Gly161Glu	p.G161E	ENST00000307017	NM_032557.5	161	gGg/gAg	0	not done		probablydamaging	
SGCZ		inserm.fr	GRCh37	8	14412410	14412410	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1717T																					ENST00000382080.1:c.65C>T	p.Ala22Val	p.A22V	ENST00000382080	NM_139167.2	22	gCa/gTa	0	not done		possiblydamaging	
LTV1		inserm.fr	GRCh37	6	144167267	144167267	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC798T									Valid												ENST00000367576.5:c.215T>A	p.Leu72Gln	p.L72Q	ENST00000367576	NM_032860.3	72	cTg/cAg	0	validated		probablydamaging	
LY6H		inserm.fr	GRCh37	8	144239726	144239726	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000414417.2:c.427G>T	p.Ala143Ser	p.A143S	ENST00000414417	NM_001130478.1	143	Gcc/Tcc	0	not done		probablydamaging	
ARHGAP15		inserm.fr	GRCh37	2	144244975	144244975	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1708T																					ENST00000295095.6:c.737G>A	p.Ser246Asn	p.S246N	ENST00000295095	NM_018460.3	246	aGc/aAc	0	not done		benign	
PLAGL1		inserm.fr	GRCh37	6	144262680	144262680	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1091T																					ENST00000360537.2:c.1273C>T	p.Pro425Ser	p.P425S	ENST00000360537		425	Ccc/Tcc	0	validated		probablydamaging	
PLAGL1		inserm.fr	GRCh37	6	144262928	144262928	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC614T																					ENST00000360537.2:c.1025C>T	p.Pro342Leu	p.P342L	ENST00000360537		342	cCt/cTt	0	validated		benign	
GPIHBP1		inserm.fr	GRCh37	8	144295170	144295170	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1154T																					ENST00000330824.2:c.28G>A	p.Ala10Thr	p.A10T	ENST00000330824	NM_178172.3	10	Gcc/Acc	0	not done		benign	
SLC6A3		inserm.fr	GRCh37	5	1443088	1443088	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000270349.9:c.225C>T	p.Gly75=	p.G75=	ENST00000270349	NM_001044.4	75	ggC/ggT	0	not done		synonymous	
SLC6A3		inserm.fr	GRCh37	5	1443265	1443265	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000270349.9:c.48C>T	p.Ala16=	p.A16=	ENST00000270349	NM_001044.4	16	gcC/gcT	0	not done		synonymous	
SPANXN1		inserm.fr	GRCh37	X	144329134	144329134	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370493.3:c.28G>A	p.Gly10Arg	p.G10R	ENST00000370493	NM_001009614.2	10	Ggg/Agg	0	not done		probablydamaging	
SMARCA5		inserm.fr	GRCh37	4	144457651	144457651	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000283131.3:c.1315G>A	p.Gly439Ser	p.G439S	ENST00000283131	NM_003601.3	439	Ggc/Agc	0	not done		possiblydamaging	
RHPN1		inserm.fr	GRCh37	8	144462797	144462797	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000289013.6:c.1255G>A	p.Glu419Lys	p.E419K	ENST00000289013	NM_052924.2	419	Gag/Aag	0	not done		probablydamaging	
RHPN1		inserm.fr	GRCh37	8	144463490	144463490	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000289013.6:c.1464G>A	p.Lys488=	p.K488=	ENST00000289013	NM_052924.2	488	aaG/aaA	0	not done		synonymous	
RHPN1		inserm.fr	GRCh37	8	144464621	144464621	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000289013.6:c.1813G>A	p.Val605Ile	p.V605I	ENST00000289013	NM_052924.2	605	Gtc/Atc	0	not done		benign	
RHPN1		inserm.fr	GRCh37	8	144464703	144464703	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000289013.6:c.1895G>A	p.Arg632Gln	p.R632Q	ENST00000289013	NM_052924.2	632	cGg/cAg	0	not done		possiblydamaging	
ZC3H3		inserm.fr	GRCh37	8	144589975	144589975	+	synonymous_variant	Silent	SNP	G	A	A			BCM269T																					ENST00000262577.5:c.1656C>T	p.Ser552=	p.S552=	ENST00000262577	NM_015117.2	552	agC/agT	0	validated		synonymous	
FREM3		inserm.fr	GRCh37	4	144618262	144618262	+	synonymous_variant	Silent	SNP	G	A	A			BCM275T																					ENST00000329798.5:c.3567C>T	p.Thr1189=	p.T1189=	ENST00000329798	NM_001168235.1	1189	acC/acT	0	validated		synonymous	
FREM3		inserm.fr	GRCh37	4	144619013	144619013	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000329798.5:c.2816C>T	p.Ala939Val	p.A939V	ENST00000329798	NM_001168235.1	939	gCt/gTt	0	not done			
MROH6		inserm.fr	GRCh37	8	144651614	144651614	+	synonymous_variant	Silent	SNP	G	A	A			CHC432T																					ENST00000398882.3:c.1473C>T	p.Asp491=	p.D491=	ENST00000398882	NM_001100878.1	491	gaC/gaT	0	validated		synonymous	
TRIO		inserm.fr	GRCh37	5	14465653	14465653	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000344204.4:c.5668-1G>A		p.X1890_splice	ENST00000344204	NM_007118.2			0	not done		damaging	
TIGD5		inserm.fr	GRCh37	8	144681454	144681454	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000504548.2:c.1381G>A	p.Ala461Thr	p.A461T	ENST00000504548	NM_032862.4	461	Gct/Act	0	not done		benign	
PYCRL		inserm.fr	GRCh37	8	144688646	144688646	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000220966.6:c.576C>T	p.Gly192=	p.G192=	ENST00000220966	NM_023078.3	192	ggC/ggT	0	validated		synonymous	
PYCRL		inserm.fr	GRCh37	8	144688821	144688821	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC912T									Valid												ENST00000220966.6:c.401G>T	p.Arg134Leu	p.R134L	ENST00000220966	NM_023078.3	134	cGg/cTg	0	validated		probablydamaging	
ZNF707		inserm.fr	GRCh37	8	144773329	144773329	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000532205.1:c.102G>A	p.Arg34=	p.R34=	ENST00000532205	NM_001288805.1	34	cgG/cgA	0	not done		synonymous	
CCDC166		inserm.fr	GRCh37	8	144789011	144789011	+	synonymous_variant	Silent	SNP	G	A	A			CHC1545T																					ENST00000542437.1:c.1173C>T	p.Ser391=	p.S391=	ENST00000542437	NM_001162914.1	391	tcC/tcT	0	not done		synonymous	
FAM83H		inserm.fr	GRCh37	8	144812668	144812668	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC902T																					ENST00000388913.3:c.85C>T	p.Arg29Cys	p.R29C	ENST00000388913	NM_198488.3	29	Cgc/Tgc	0	not done		probablydamaging	
SLC6A6		inserm.fr	GRCh37	3	14485328	14485328	+	synonymous_variant	Silent	SNP	C	A	A			CHC1154T																					ENST00000454876.2:c.186C>A	p.Gly62=	p.G62=	ENST00000454876	NM_001134367.2	62	ggC/ggA	0	not done		synonymous	
PDE4DIP		inserm.fr	GRCh37	1	144877079	144877079	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T																					ENST00000369356.4:c.4608G>T	p.Gln1536His	p.Q1536H	ENST00000369356	NM_014644.5	1536	caG/caT	0	validated		probablydamaging	
SCRIB		inserm.fr	GRCh37	8	144877238	144877238	+	synonymous_variant	Silent	SNP	G	A	A			CHC1052T																					ENST00000356994.2:c.3816C>T	p.Ala1272=	p.A1272=	ENST00000356994	NM_182706.4	1272	gcC/gcT	0	validated		synonymous	
GTDC1		inserm.fr	GRCh37	2	144899498	144899498	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2034T																					ENST00000392869.2:c.472C>T	p.Pro158Ser	p.P158S	ENST00000392869	NM_001284234.1	158	Ccc/Tcc	0	not done		probablydamaging	
EPPK1		inserm.fr	GRCh37	8	144941836	144941836	+	synonymous_variant	Silent	SNP	G	A	A			CHC314T																					ENST00000525985.1:c.5586C>T	p.Ser1862=	p.S1862=	ENST00000525985	NM_031308.2	1862	tcC/tcT	0	validated		synonymous	
EPPK1		inserm.fr	GRCh37	8	144943823	144943823	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1601T																					ENST00000525985.1:c.3599G>T	p.Arg1200Leu	p.R1200L	ENST00000525985	NM_031308.2	1200	cGg/cTg	0	not done		possiblydamaging	
UNKL		inserm.fr	GRCh37	16	1449480	1449480	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000389221.4:c.629C>T	p.Thr210Met	p.T210M	ENST00000389221	NM_001193388.3	210	aCg/aTg	0	validated		probablydamaging	
PLEC		inserm.fr	GRCh37	8	144990643	144990643	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000322810.4:c.13757C>T	p.Ala4586Val	p.A4586V	ENST00000322810	NM_201380.2	4586	gCg/gTg	0	validated		probablydamaging	
UTRN		inserm.fr	GRCh37	6	145069555	145069555	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000367545.3:c.8113G>A	p.Ala2705Thr	p.A2705T	ENST00000367545	NM_007124.2	2705	Gct/Act	0	validated		benign	
COPB1		inserm.fr	GRCh37	11	14507942	14507942	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2127T																					ENST00000249923.3:c.808A>T	p.Thr270Ser	p.T270S	ENST00000249923	NM_016451.4	270	Aca/Tca	0	not done		possiblydamaging	
TRIO		inserm.fr	GRCh37	5	14508367	14508367	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM337T																					ENST00000344204.4:c.9130G>A	p.Ala3044Thr	p.A3044T	ENST00000344204	NM_007118.2	3044	Gcc/Acc	0	validated		benign	
TRIO		inserm.fr	GRCh37	5	14508407	14508407	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000344204.4:c.9170G>A	p.Ser3057Asn	p.S3057N	ENST00000344204	NM_007118.2	3057	aGc/aAc	0	not done		benign	
UTRN		inserm.fr	GRCh37	6	145103160	145103160	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM375T									Valid												ENST00000367545.3:c.8735C>A	p.Thr2912Lys	p.T2912K	ENST00000367545	NM_007124.2	2912	aCa/aAa	0	validated		probablydamaging	
OPLAH		inserm.fr	GRCh37	8	145112488	145112488	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000426825.1:c.1285G>T	p.Ala429Ser	p.A429S	ENST00000426825	NM_017570.3	429	Gct/Tct	0	not done		benign	
OPLAH		inserm.fr	GRCh37	8	145114765	145114765	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			BCM791T																					ENST00000426825.1:c.171G>T	p.Gln57His	p.Q57H	ENST00000426825	NM_017570.3	57	caG/caT	0	validated		possiblydamaging	
GPAA1		inserm.fr	GRCh37	8	145138046	145138046	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000355091.4:c.94G>A	p.Gly32Ser	p.G32S	ENST00000355091	NM_003801.3	32	Ggc/Agc	0	not done		probablydamaging	
GPAA1		inserm.fr	GRCh37	8	145138896	145138896	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM371T																					ENST00000355091.4:c.569T>A	p.Leu190Gln	p.L190Q	ENST00000355091	NM_003801.3	190	cTg/cAg	0	validated		possiblydamaging	
GPAA1		inserm.fr	GRCh37	8	145139728	145139728	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2112T																					ENST00000355091.4:c.1114G>A	p.Gly372Ser	p.G372S	ENST00000355091	NM_003801.3	372	Ggc/Agc	0	not done		probablydamaging	
ZEB2		inserm.fr	GRCh37	2	145156526	145156526	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2052T																					ENST00000558170.2:c.2228C>T	p.Ser743Phe	p.S743F	ENST00000558170	NM_014795.3	743	tCt/tTt	0	not done		possiblydamaging	
ZEB2		inserm.fr	GRCh37	2	145156803	145156803	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000558170.2:c.1951C>T	p.Pro651Ser	p.P651S	ENST00000558170	NM_014795.3	651	Cca/Tca	0	not done		probablydamaging	
MAF1		inserm.fr	GRCh37	8	145160839	145160839	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000322428.5:c.151G>A	p.Gly51Ser	p.G51S	ENST00000322428	NM_032272.4	51	Ggc/Agc	0	not done		possiblydamaging	
MAF1		inserm.fr	GRCh37	8	145161539	145161539	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000322428.5:c.582G>A	p.Arg194=	p.R194=	ENST00000322428	NM_032272.4	194	cgG/cgA	0	not done		synonymous	
KIAA1875		inserm.fr	GRCh37	8	145166899	145166899	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000323662.8:c.2747G>A	p.Arg916Gln	p.R916Q	ENST00000323662		916	cGg/cAg	0	not done			
DDX39A		inserm.fr	GRCh37	19	14521899	14521899	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2034T																					ENST00000242776.4:c.515C>T	p.Pro172Leu	p.P172L	ENST00000242776	NM_005804.3	172	cCg/cTg	0	not done		probablydamaging	
SH3RF2		inserm.fr	GRCh37	5	145379812	145379812	+	synonymous_variant	Silent	SNP	G	A	A			CHC1704T																					ENST00000511217.1:c.570G>A	p.Pro190=	p.P190=	ENST00000511217		190	ccG/ccA	0	not done		synonymous	
ITGA10		inserm.fr	GRCh37	1	145538239	145538239	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000369304.3:c.2766G>A	p.Gly922=	p.G922=	ENST00000369304	NM_003637.3	922	ggG/ggA	0	not done		synonymous	
APC2		inserm.fr	GRCh37	19	1455424	1455424	+	synonymous_variant	Silent	SNP	G	A	A			CHC1035T																					ENST00000535453.1:c.564G>A	p.Glu188=	p.E188=	ENST00000535453		188	gaG/gaA	0	validated		synonymous	
PKN1		inserm.fr	GRCh37	19	14554348	14554348	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000342216.4:c.407G>A	p.Gly136Asp	p.G136D	ENST00000342216	NM_213560.1	136	gGc/gAc	0	not done		probablydamaging	
HHIP		inserm.fr	GRCh37	4	145568017	145568017	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC320T									Valid												ENST00000296575.3:c.190G>A	p.Gly64Arg	p.G64R	ENST00000296575	NM_022475.2	64	Ggg/Agg	0	validated		probablydamaging	
C8ORFK29		inserm.fr	GRCh37	8	145577702	145577702	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000398633.3:c.354C>T	p.Arg118=	p.R118=	ENST00000398633	NM_001252402.2	118	cgC/cgT	0	validated		synonymous	
TMEM249		inserm.fr	GRCh37	8	145577931	145577931	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC891T																					ENST00000398633.3:c.212G>T	p.Ser71Ile	p.S71I	ENST00000398633	NM_001252402.2	71	aGc/aTc	0	validated			
FBXL6		inserm.fr	GRCh37	8	145581440	145581440	+	synonymous_variant	Silent	SNP	C	A	A			CHC1750T																					ENST00000331890.5:c.423G>T	p.Ala141=	p.A141=	ENST00000331890	NM_012162.3	141	gcG/gcT	0	not done		synonymous	
GRIP2		inserm.fr	GRCh37	3	14559382	14559382	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC2099T																					ENST00000273083.3:n.1119C>T		*373*	ENST00000273083				0	not done		synonymous	
RBM27		inserm.fr	GRCh37	5	145609449	145609449	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC121T									Valid												ENST00000265271.5:c.565G>A	p.Asp189Asn	p.D189N	ENST00000265271	NM_018989.1	189	Gac/Aac	0	validated		possiblydamaging	
HHIP		inserm.fr	GRCh37	4	145627696	145627696	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC097T																					ENST00000296575.3:c.845G>A	p.Arg282Lys	p.R282K	ENST00000296575	NM_022475.2	282	aGa/aAa	0	not done		probablydamaging	
HHIP		inserm.fr	GRCh37	4	145628343	145628343	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000296575.3:c.1088G>A	p.Gly363Asp	p.G363D	ENST00000296575	NM_022475.2	363	gGc/gAc	0	not done		possiblydamaging	
TONSL		inserm.fr	GRCh37	8	145654667	145654667	+	synonymous_variant	Silent	SNP	C	A	A			CHC322T																					ENST00000409379.3:c.3996G>T	p.Ala1332=	p.A1332=	ENST00000409379	NM_013432.4	1332	gcG/gcT	0	validated		synonymous	
PKN1		inserm.fr	GRCh37	19	14568897	14568897	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000342216.4:c.1238G>A	p.Trp413Ter	p.W413*	ENST00000342216	NM_213560.1	413	tGg/tAg	0	not done		damaging	
SIRPB2		inserm.fr	GRCh37	20	1456917	1456917	+	synonymous_variant	Silent	SNP	T	A	A			BCM695T																					ENST00000359801.3:c.924A>T	p.Leu308=	p.L308=	ENST00000359801	NM_001122962.1	308	ctA/ctT	0	validated		synonymous	
FOXH1		inserm.fr	GRCh37	8	145699626	145699626	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000377317.4:c.1093C>T	p.Leu365=	p.L365=	ENST00000377317	NM_003923.2	365	Ctg/Ttg	0	not done		synonymous	
C80orf82		inserm.fr	GRCh37	8	145753169	145753169	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC258T																					ENST00000524821.1:c.208C>T	p.Pro70Ser	p.P70S	ENST00000524821		70	Ccg/Tcg	0	validated		benign	
ARHGAP39		inserm.fr	GRCh37	8	145756232	145756232	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC326T																					ENST00000377307.2:c.3004C>T	p.Arg1002Trp	p.R1002W	ENST00000377307	NM_025251.1	1002	Cgg/Tgg	0	validated		probablydamaging	
ATF7IP		inserm.fr	GRCh37	12	14577401	14577401	+	synonymous_variant	Silent	SNP	G	A	A			CHC205T																					ENST00000261168.4:c.552G>A	p.Val184=	p.V184=	ENST00000261168	NM_018179.3	184	gtG/gtA	0	validated		synonymous	
SIRPB2		inserm.fr	GRCh37	20	1458003	1458003	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359801.3:c.839C>T	p.Ala280Val	p.A280V	ENST00000359801	NM_001122962.1	280	gCa/gTa	0	not done		benign	
ARHGAP39		inserm.fr	GRCh37	8	145806374	145806374	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2216T																					ENST00000377307.2:c.368G>T	p.Ser123Ile	p.S123I	ENST00000377307	NM_025251.1	123	aGc/aTc	0	not done		probablydamaging	
CNTNAP2		inserm.fr	GRCh37	7	145814041	145814041	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC051T																					ENST00000361727.3:c.73G>A	p.Ala25Thr	p.A25T	ENST00000361727	NM_014141.5	25	Gcc/Acc	0	validated		benign	
TCERG1		inserm.fr	GRCh37	5	145847966	145847966	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000296702.5:c.1198G>A	p.Gly400Ser	p.G400S	ENST00000296702	NM_006706.3	400	Ggt/Agt	0	not done		probablydamaging	
GIPC1		inserm.fr	GRCh37	19	14593720	14593720	+	synonymous_variant	Silent	SNP	G	A	A			CHC614T																					ENST00000393033.4:c.69C>T	p.Gly23=	p.G23=	ENST00000393033	NM_005716.3	23	ggC/ggT	0	validated		synonymous	
GIPC1		inserm.fr	GRCh37	19	14593743	14593743	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1749T																					ENST00000393033.4:c.46G>T	p.Glu16Ter	p.E16*	ENST00000393033	NM_005716.3	16	Gaa/Taa	0	not done		damaging	
ANAPC10		inserm.fr	GRCh37	4	145985731	145985731	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1775T																					ENST00000507656.1:c.320A>T	p.Glu107Val	p.E107V	ENST00000507656	NM_001256706.1	107	gAa/gTa	0	validated		possiblydamaging	
EPM2A		inserm.fr	GRCh37	6	146007297	146007297	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1545T																					ENST00000367519.3:c.437A>T	p.Tyr146Phe	p.Y146F	ENST00000367519	NM_005670.3	146	tAt/tTt	0	not done		benign	
PPP2R2B		inserm.fr	GRCh37	5	146017889	146017889	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2127T																					ENST00000336640.6:c.724G>T	p.Val242Leu	p.V242L	ENST00000336640	NM_181676.2	242	Gtg/Ttg	0	not done		benign	
SIRPB2		inserm.fr	GRCh37	20	1460420	1460420	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1185T																					ENST00000359801.3:c.376C>T	p.His126Tyr	p.H126Y	ENST00000359801	NM_001122962.1	126	Cac/Tac	0	not done		possiblydamaging	
COMMD5		inserm.fr	GRCh37	8	146076165	146076165	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1756T																					ENST00000450361.2:c.559G>T	p.Ala187Ser	p.A187S	ENST00000450361	NM_001081003.2	187	Gca/Tca	0	not done		possiblydamaging	
ZNF16		inserm.fr	GRCh37	8	146156755	146156755	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2127T																					ENST00000276816.4:c.1418G>T	p.Ser473Ile	p.S473I	ENST00000276816	NM_001029976.2	473	aGc/aTc	0	validated		probablydamaging	
ZNF252		inserm.fr	GRCh37	8	146202401	146202401	+	non_coding_transcript_exon_variant	RNA	SNP	C	A	A			CHC1594T																					ENST00000426361.2:n.1784G>T		*595*	ENST00000426361				0	not done			
PLSCR1		inserm.fr	GRCh37	3	146246589	146246589	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC801T																					ENST00000342435.4:c.124C>T	p.Pro42Ser	p.P42S	ENST00000342435	NM_021105.2	42	Ccc/Tcc	0	not done		probablydamaging	
ZDHHC21		inserm.fr	GRCh37	9	14639913	14639913	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC909T																					ENST00000380916.4:c.602A>T	p.Gln201Leu	p.Q201L	ENST00000380916	NM_178566.4	201	cAa/cTa	0	not done		probablydamaging	
PDE3B		inserm.fr	GRCh37	11	14666522	14666522	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000282096.4:c.901G>A	p.Gly301Arg	p.G301R	ENST00000282096	NM_000922.3	301	Gga/Aga	0	not done		probablydamaging	
GRM1		inserm.fr	GRCh37	6	146673546	146673546	+	synonymous_variant	Silent	SNP	G	A	A			BCB151T																					ENST00000361719.2:c.1347G>A	p.Lys449=	p.K449=	ENST00000361719		449	aaG/aaA	0	validated		synonymous	
TECR		inserm.fr	GRCh37	19	14673372	14673372	+	synonymous_variant	Silent	SNP	G	A	A			BCM337T																					ENST00000215567.5:c.51G>A	p.Leu17=	p.L17=	ENST00000215567	NM_138501.5	17	ctG/ctA	0	validated		synonymous	
APC2		inserm.fr	GRCh37	19	1467393	1467393	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM275T																					ENST00000535453.1:c.4093G>A	p.Gly1365Ser	p.G1365S	ENST00000535453		1365	Ggt/Agt	0	validated		probablydamaging	
TECR		inserm.fr	GRCh37	19	14674668	14674668	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000215567.5:c.220G>A	p.Ala74Thr	p.A74T	ENST00000215567	NM_138501.5	74	Gcc/Acc	0	validated		probablydamaging	
APC2		inserm.fr	GRCh37	19	1467619	1467619	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2113T																					ENST00000535453.1:c.4319G>A	p.Gly1440Glu	p.G1440E	ENST00000535453		1440	gGg/gAg	0	not done		possiblydamaging	
APC2		inserm.fr	GRCh37	19	1468237	1468237	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000535453.1:c.4937G>A	p.Gly1646Asp	p.G1646D	ENST00000535453		1646	gGc/gAc	0	not done		benign	
ADGB		inserm.fr	GRCh37	6	147055087	147055087	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000397944.3:c.2715G>A	p.Glu905=	p.E905=	ENST00000397944	NM_024694.3	905	gaG/gaA	0	not done		synonymous	
FMR1NB		inserm.fr	GRCh37	X	147063023	147063023	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC361TA									Valid												ENST00000370467.3:c.101C>A	p.Thr34Asn	p.T34N	ENST00000370467	NM_152578.2	34	aCt/aAt	0	validated		possiblydamaging	
FMR1NB		inserm.fr	GRCh37	X	147063131	147063131	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370467.3:c.209G>A	p.Gly70Glu	p.G70E	ENST00000370467	NM_152578.2	70	gGg/gAg	0	not done		probablydamaging	
ADGB		inserm.fr	GRCh37	6	147109536	147109536	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000397944.3:c.4327G>A	p.Ala1443Thr	p.A1443T	ENST00000397944	NM_024694.3	1443	Gca/Aca	0	not done		benign	
ZIC4		inserm.fr	GRCh37	3	147114168	147114168	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000525172.2:c.309C>T	p.Ala103=	p.A103=	ENST00000525172	NM_001168378.1	103	gcC/gcT	0	not done		synonymous	
TMEM240		inserm.fr	GRCh37	1	1471167	1471167	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2098T																					ENST00000378733.4:c.175C>T	p.His59Tyr	p.H59Y	ENST00000378733	NM_001114748.1	59	Cac/Tac	0	not done		probablydamaging	
ZIC4		inserm.fr	GRCh37	3	147121882	147121882	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000525172.2:c.4C>T	p.Pro2Ser	p.P2S	ENST00000525172	NM_001168378.1	2	Ccg/Tcg	0	not done			
ZIC1		inserm.fr	GRCh37	3	147128403	147128403	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000282928.4:c.504G>A	p.Ser168=	p.S168=	ENST00000282928	NM_003412.3	168	tcG/tcA	0	not done		synonymous	
ZIC1		inserm.fr	GRCh37	3	147128754	147128754	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000282928.4:c.855C>A	p.Ala285=	p.A285=	ENST00000282928	NM_003412.3	285	gcC/gcA	0	not done		synonymous	
CER1		inserm.fr	GRCh37	9	14722533	14722533	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000380911.3:c.138C>T	p.Asn46=	p.N46=	ENST00000380911	NM_005454.2	46	aaC/aaT	0	not done		synonymous	
C5orf46		inserm.fr	GRCh37	5	147286019	147286019	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1763T																					ENST00000318315.4:c.46G>T	p.Val16Phe	p.V16F	ENST00000318315	NM_206966.2	16	Gtc/Ttc	0	not done		benign	
EMR3		inserm.fr	GRCh37	19	14736401	14736401	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1738T																					ENST00000253673.5:c.1823A>T	p.Gln608Leu	p.Q608L	ENST00000253673	NM_032571.3	608	cAa/cTa	0	not done		possiblydamaging	
FREM1		inserm.fr	GRCh37	9	14737504	14737504	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1598T																					ENST00000422223.2:c.6430C>T	p.Arg2144Cys	p.R2144C	ENST00000422223	NM_144966.5	2144	Cgc/Tgc	0	not done		possiblydamaging	
SPINK5		inserm.fr	GRCh37	5	147473928	147473928	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000359874.3:c.678G>A	p.Lys226=	p.K226=	ENST00000359874	NM_001127698.1	226	aaG/aaA	0	not done		synonymous	
FREM1		inserm.fr	GRCh37	9	14756444	14756444	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1616T																					ENST00000422223.2:c.5335G>T	p.Val1779Phe	p.V1779F	ENST00000422223	NM_144966.5	1779	Gtc/Ttc	0	not done		probablydamaging	
STXBP5		inserm.fr	GRCh37	6	147703985	147703985	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000321680.6:c.3265G>A	p.Gly1089Ser	p.G1089S	ENST00000321680	NM_001127715.2	1089	Ggc/Agc	0	not done		probablydamaging	
AFF2		inserm.fr	GRCh37	X	147733575	147733575	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1624T																					ENST00000370460.2:c.103C>A	p.Gln35Lys	p.Q35K	ENST00000370460	NM_002025.3	35	Caa/Aaa	0	validated		probablydamaging	
FAM84A		inserm.fr	GRCh37	2	14774403	14774403	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1205T																					ENST00000295092.2:c.300C>A	p.Ser100Arg	p.S100R	ENST00000295092	NM_145175.2	100	agC/agA	0	validated		benign	
FREM1		inserm.fr	GRCh37	9	14776064	14776064	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000422223.2:c.4580C>T	p.Pro1527Leu	p.P1527L	ENST00000422223	NM_144966.5	1527	cCt/cTt	0	not done		benign	
FBXO38		inserm.fr	GRCh37	5	147781620	147781620	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1629T																					ENST00000394370.3:c.338G>A	p.Arg113Gln	p.R113Q	ENST00000394370		113	cGa/cAa	0	not done		probablydamaging	
FBXO38		inserm.fr	GRCh37	5	147793759	147793759	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000394370.3:c.1154G>A	p.Gly385Asp	p.G385D	ENST00000394370		385	gGt/gAt	0	not done		probablydamaging	
MICALL2		inserm.fr	GRCh37	7	1477938	1477938	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM423T																					ENST00000297508.7:c.2174C>T	p.Thr725Ile	p.T725I	ENST00000297508	NM_182924.3	725	aCc/aTc	0	validated		probablydamaging	
FBXO38		inserm.fr	GRCh37	5	147807137	147807137	+	synonymous_variant	Silent	SNP	T	A	A			BCM337T																					ENST00000394370.3:c.2280T>A	p.Ser760=	p.S760=	ENST00000394370		760	tcT/tcA	0	validated		synonymous	
SAMD5		inserm.fr	GRCh37	6	147830490	147830490	+	synonymous_variant	Silent	SNP	C	A	A			CHC253T																					ENST00000367474.1:c.426C>A	p.Gly142=	p.G142=	ENST00000367474	NM_001030060.2	142	ggC/ggA	0	validated		synonymous	
ANKRD30B		inserm.fr	GRCh37	18	14784349	14784349	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2211T																					ENST00000358984.4:c.1585C>A	p.Pro529Thr	p.P529T	ENST00000358984	NM_001145029.1	529	Cca/Aca	0	validated		possiblydamaging	
FREM1		inserm.fr	GRCh37	9	14784498	14784498	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC2098T																					ENST00000422223.2:c.4312C>T	p.Arg1438Ter	p.R1438*	ENST00000422223	NM_144966.5	1438	Cga/Tga	0	not done		damaging	
NBPF14		inserm.fr	GRCh37	1	148010942	148010942	+	synonymous_variant	Silent	SNP	G	A	A			CHC884T																					ENST00000310701.10:c.1697C>T	p.Tyr566=	p.Y566=	ENST00000310701		566	taC/taT	0	validated		synonymous	
AFF2		inserm.fr	GRCh37	X	148037388	148037388	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC434T									Valid												ENST00000370460.2:c.1813C>A	p.Pro605Thr	p.P605T	ENST00000370460	NM_002025.3	605	Cca/Aca	0	validated		possiblydamaging	
AFF2		inserm.fr	GRCh37	X	148062312	148062312	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2098T																					ENST00000370460.2:c.3615C>A	p.Ser1205Arg	p.S1205R	ENST00000370460	NM_002025.3	1205	agC/agA	0	validated		benign	
TPO		inserm.fr	GRCh37	2	1480979	1480979	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC793T																					ENST00000345913.4:c.941G>A	p.Arg314Gln	p.R314Q	ENST00000345913	NM_000547.5	314	cGg/cAg	0	validated		probablydamaging	
TPO		inserm.fr	GRCh37	2	1481174	1481174	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1749T																					ENST00000345913.4:c.1136C>A	p.Pro379His	p.P379H	ENST00000345913	NM_000547.5	379	cCc/cAc	0	not done		probablydamaging	
FREM1		inserm.fr	GRCh37	9	14819390	14819390	+	synonymous_variant	Silent	SNP	G	A	A			CHC2098T																					ENST00000422223.2:c.2388C>T	p.Ser796=	p.S796=	ENST00000422223	NM_144966.5	796	agC/agT	0	not done		synonymous	
GUCY2C		inserm.fr	GRCh37	12	14832644	14832644	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC805T																					ENST00000261170.3:c.777G>T	p.Lys259Asn	p.K259N	ENST00000261170	NM_004963.3	259	aaG/aaT	0	not done		possiblydamaging	
FREM1		inserm.fr	GRCh37	9	14841487	14841487	+	synonymous_variant	Silent	SNP	G	A	A			CHC097T																					ENST00000422223.2:c.1839C>T	p.Val613=	p.V613=	ENST00000422223	NM_144966.5	613	gtC/gtT	0	not done		synonymous	
SH3TC2		inserm.fr	GRCh37	5	148431714	148431714	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM501T																					ENST00000515425.1:c.142A>T	p.Ile48Phe	p.I48F	ENST00000515425	NM_024577.3	48	Att/Ttt	0	validated		benign	
EDNRA		inserm.fr	GRCh37	4	148457054	148457054	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC2103T																					ENST00000324300.5:c.773G>A	p.Trp258Ter	p.W258*	ENST00000324300	NM_001957.3	258	tGg/tAg	0	not done		damaging	
AGTR1		inserm.fr	GRCh37	3	148459552	148459552	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000542281.1:c.730G>A	p.Ala244Thr	p.A244T	ENST00000542281	NM_031850.3	244	Gca/Aca	0	not done		probablydamaging	
MICALL2		inserm.fr	GRCh37	7	1484886	1484886	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM683T																					ENST00000297508.7:c.820C>T	p.Gln274Ter	p.Q274*	ENST00000297508	NM_182924.3	274	Cag/Tag	0	validated		damaging	
CPB1		inserm.fr	GRCh37	3	148577601	148577601	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC1597T																					ENST00000491148.1:c.1067-1G>A		p.X356_splice	ENST00000491148				0	not done		possiblydamaging	
FGD5		inserm.fr	GRCh37	3	14862432	14862432	+	synonymous_variant	Silent	SNP	T	A	A			CHC314T																					ENST00000285046.5:c.1854T>A	p.Pro618=	p.P618=	ENST00000285046	NM_152536.3	618	ccT/ccA	0	validated		synonymous	
CXorf40A		inserm.fr	GRCh37	X	148628425	148628425	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000441248.1:c.394G>A	p.Glu132Lys	p.E132K	ENST00000441248		132	Gag/Aag	0	not done		benign	
ACVR2A		inserm.fr	GRCh37	2	148657035	148657035	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1079T																					ENST00000241416.7:c.272G>A	p.Cys91Tyr	p.C91Y	ENST00000241416	NM_001616.4	91	tGt/tAt	0	not done		probablydamaging	
AFAP1L1		inserm.fr	GRCh37	5	148689588	148689588	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC218T																					ENST00000296721.4:c.817G>A	p.Val273Met	p.V273M	ENST00000296721	NM_152406.2	273	Gtg/Atg	0	validated		benign	
AFAP1L1		inserm.fr	GRCh37	5	148697504	148697504	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000296721.4:c.1479+1G>A		p.X493_splice	ENST00000296721	NM_152406.2			0	not done		damaging	
ZNF425		inserm.fr	GRCh37	7	148801487	148801487	+	synonymous_variant	Silent	SNP	G	A	A			BCM703T																					ENST00000378061.2:c.1476C>T	p.His492=	p.H492=	ENST00000378061	NM_001001661.2	492	caC/caT	0	validated		synonymous	
ZNF398		inserm.fr	GRCh37	7	148851347	148851347	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000475153.1:c.335G>A	p.Arg112Gln	p.R112Q	ENST00000475153		112	cGg/cAg	0	not done		probablydamaging	
SASH1		inserm.fr	GRCh37	6	148865654	148865654	+	synonymous_variant	Silent	SNP	G	A	A			CHC1591T																					ENST00000367467.3:c.3048G>A	p.Ala1016=	p.A1016=	ENST00000367467	NM_015278.3	1016	gcG/gcA	0	not done		synonymous	
ARHGAP10		inserm.fr	GRCh37	4	148887833	148887833	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	A	A			CHC302T									Valid												ENST00000336498.3:c.1559T>A	p.Val520Asp	p.V520D	ENST00000336498	NM_024605.3	520	gTt/gAt	0	validated		probablydamaging	
CP		inserm.fr	GRCh37	3	148899873	148899873	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			BCM483T									Valid												ENST00000264613.6:c.2473A>T	p.Lys825Ter	p.K825*	ENST00000264613	NM_000096.3	825	Aaa/Taa	0	validated		damaging	
MOSPD2		inserm.fr	GRCh37	X	14891659	14891659	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000380492.3:c.9G>A	p.Glu3=	p.E3=	ENST00000380492	NM_152581.3	3	gaG/gaA	0	not done		damaging	
ZNF783		inserm.fr	GRCh37	7	148963984	148963984	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000434415.1:c.495G>A	p.Lys165=	p.K165=	ENST00000434415	NM_001195220.1	165	aaG/aaA	0	not done		synonymous	
ZNF783		inserm.fr	GRCh37	7	148990578	148990578	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000416232.1:n.1594G>A		*532*	ENST00000416232				0	not done			
MAGEA8		inserm.fr	GRCh37	X	149013329	149013329	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1732T																					ENST00000535454.1:c.283C>A	p.Pro95Thr	p.P95T	ENST00000535454	NM_001166400.1	95	Cca/Aca	0	not done		probablydamaging	
PPARGC1B		inserm.fr	GRCh37	5	149213250	149213250	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000309241.5:c.1614G>A	p.Arg538=	p.R538=	ENST00000309241	NM_133263.3	538	cgG/cgA	0	not done		synonymous	
MBD5		inserm.fr	GRCh37	2	149247752	149247752	+	synonymous_variant	Silent	SNP	G	A	A			CHC155T																					ENST00000407073.1:c.3852G>A	p.Val1284=	p.V1284=	ENST00000407073	NM_018328.4	1284	gtG/gtA	0	validated		synonymous	
KAZN		inserm.fr	GRCh37	1	14925518	14925518	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000376030.2:c.25G>A	p.Ala9Thr	p.A9T	ENST00000376030	NM_201628.2	9	Gcg/Acg	0	not done		probablydamaging	
PDE6A		inserm.fr	GRCh37	5	149278028	149278028	+	synonymous_variant	Silent	SNP	G	A	A			CHC1745T																					ENST00000255266.5:c.1305C>T	p.Asp435=	p.D435=	ENST00000255266	NM_000440.2	435	gaC/gaT	0	not done		synonymous	
WWTR1		inserm.fr	GRCh37	3	149374849	149374849	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000360632.3:c.245C>T	p.Ala82Val	p.A82V	ENST00000360632	NM_015472.4	82	gCc/gTc	0	not done		benign	
WBP11		inserm.fr	GRCh37	12	14944174	14944174	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB111T																					ENST00000261167.2:c.944G>T	p.Gly315Val	p.G315V	ENST00000261167	NM_016312.2	315	gGa/gTa	0	validated		benign	
CSF1R		inserm.fr	GRCh37	5	149459676	149459676	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000286301.3:c.531C>T	p.Cys177=	p.C177=	ENST00000286301	NM_005211.3	177	tgC/tgT	0	not done		synonymous	
CSF1R		inserm.fr	GRCh37	5	149460499	149460499	+	synonymous_variant	Silent	SNP	G	A	A			CHC1592T																					ENST00000286301.3:c.138C>T	p.Gly46=	p.G46=	ENST00000286301	NM_005211.3	46	ggC/ggT	0	not done		synonymous	
ZNF467		inserm.fr	GRCh37	7	149461881	149461881	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000302017.3:c.1710C>T	p.His570=	p.H570=	ENST00000302017	NM_207336.1	570	caC/caT	0	validated		synonymous	
SSPO		inserm.fr	GRCh37	7	149484509	149484509	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000378016.2:n.3432G>A		*1144*	ENST00000378016				0	not done		synonymous	
SSPO		inserm.fr	GRCh37	7	149511700	149511700	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC1715T																					ENST00000378016.2:n.10360G>A		*3454*	ENST00000378016				0	not done		benign	
SSPO		inserm.fr	GRCh37	7	149513466	149513466	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000378016.2:n.11087G>A		*3696*	ENST00000378016				0	not done		probablydamaging	
SSPO		inserm.fr	GRCh37	7	149521207	149521207	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000378016.2:n.13547G>A		*4516*	ENST00000378016				0	not done		probablydamaging	
OR7A10		inserm.fr	GRCh37	19	14952403	14952403	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000248058.1:c.287G>T	p.Gly96Val	p.G96V	ENST00000248058	NM_001005190.1	96	gGc/gTc	0	not done		possiblydamaging	
EPC2		inserm.fr	GRCh37	2	149528850	149528850	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1715T																					ENST00000258484.6:c.1614T>A	p.Ser538Arg	p.S538R	ENST00000258484	NM_015630.3	538	agT/agA	0	not done		probablydamaging	
CDX1		inserm.fr	GRCh37	5	149562431	149562431	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000231656.8:c.546G>A	p.Arg182=	p.R182=	ENST00000231656	NM_001804.2	182	cgG/cgA	0	not done		synonymous	
SLC6A7		inserm.fr	GRCh37	5	149569918	149569918	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1597T																					ENST00000230671.2:c.28C>A	p.Arg10Ser	p.R10S	ENST00000230671	NM_014228.3	10	Cgc/Agc	0	validated		benign	
SLC6A7		inserm.fr	GRCh37	5	149585118	149585118	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1207T																					ENST00000230671.2:c.1633C>A	p.Leu545Met	p.L545M	ENST00000230671	NM_014228.3	545	Ctg/Atg	0	not done		possiblydamaging	
ARSI		inserm.fr	GRCh37	5	149677333	149677333	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000328668.7:c.1154G>T	p.Arg385Leu	p.R385L	ENST00000328668	NM_001012301.2	385	cGc/cTc	0	not done		probablydamaging	
TAB2		inserm.fr	GRCh37	6	149720296	149720296	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000367456.1:c.1915G>A	p.Gly639Ser	p.G639S	ENST00000367456		639	Ggt/Agt	0	not done		probablydamaging	
TCOF1		inserm.fr	GRCh37	5	149743775	149743775	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000504761.2:c.264G>A	p.Ser88=	p.S88=	ENST00000504761		88	tcG/tcA	0	not done		synonymous	
TCOF1		inserm.fr	GRCh37	5	149747431	149747431	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2200T																					ENST00000504761.2:c.329C>A	p.Ser110Tyr	p.S110Y	ENST00000504761		110	tCc/tAc	0	not done		possiblydamaging	
TCOF1		inserm.fr	GRCh37	5	149748334	149748334	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000504761.2:c.434G>A	p.Gly145Glu	p.G145E	ENST00000504761		145	gGg/gAg	0	not done		probablydamaging	
MTM1		inserm.fr	GRCh37	X	149764999	149764999	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1594T																					ENST00000370396.2:c.101C>A	p.Ala34Asp	p.A34D	ENST00000370396	NM_000252.2	34	gCt/gAt	0	validated		benign	
HIST2H2BF		inserm.fr	GRCh37	1	149783847	149783847	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T									Valid												ENST00000545683.1:c.32C>T	p.Pro11Leu	p.P11L	ENST00000545683	NM_001161334.1	11	cCc/cTc	0	not done		probablydamaging	
KIF5C		inserm.fr	GRCh37	2	149866771	149866771	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000435030.1:c.2673G>A	p.Met891Ile	p.M891I	ENST00000435030		891	atG/atA	0	not done		possiblydamaging	
BOLA1		inserm.fr	GRCh37	1	149871904	149871904	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369153.2:c.292G>A	p.Gly98Arg	p.G98R	ENST00000369153		98	Gga/Aga	0	not done		benign	
SV2A		inserm.fr	GRCh37	1	149876701	149876701	+	synonymous_variant	Silent	SNP	C	A	A			CHC313T																					ENST00000369146.3:c.2094G>T	p.Val698=	p.V698=	ENST00000369146	NM_014849.4	698	gtG/gtT	0	validated		synonymous	
SV2A		inserm.fr	GRCh37	1	149884912	149884912	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2048T																					ENST00000369146.3:c.481C>T	p.His161Tyr	p.H161Y	ENST00000369146	NM_014849.4	161	Cac/Tac	0	not done		probablydamaging	
SV2A		inserm.fr	GRCh37	1	149885058	149885058	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC465T																					ENST00000369146.3:c.335G>T	p.Arg112Leu	p.R112L	ENST00000369146	NM_014849.4	112	cGg/cTg	0	validated		benign	
SV2A		inserm.fr	GRCh37	1	149885179	149885179	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC805T																					ENST00000369146.3:c.214C>T	p.Gln72Ter	p.Q72*	ENST00000369146	NM_014849.4	72	Cag/Tag	0	not done		damaging	
LATS1		inserm.fr	GRCh37	6	149997395	149997395	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC1053T									Valid												ENST00000253339.5:c.2883+1G>T		p.X961_splice	ENST00000253339				0	validated		damaging	
C7orf29		inserm.fr	GRCh37	7	150027955	150027955	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1596T																					ENST00000343855.4:c.462C>A	p.Ser154Arg	p.S154R	ENST00000343855	NM_138434.2	154	agC/agA	0	validated		benign	
SYNPO		inserm.fr	GRCh37	5	150028329	150028329	+	synonymous_variant	Silent	SNP	T	A	A			CHC320T																					ENST00000394243.1:c.1224T>A	p.Ala408=	p.A408=	ENST00000394243	NM_001166208.1	408	gcT/gcA	0	validated		synonymous	
SYNPO		inserm.fr	GRCh37	5	150029733	150029733	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000394243.1:c.2628G>A	p.Leu876=	p.L876=	ENST00000394243	NM_001166208.1	876	ctG/ctA	0	not done		synonymous	
VPS45		inserm.fr	GRCh37	1	150040690	150040690	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369130.3:c.97G>A	p.Gly33Ser	p.G33S	ENST00000369130	NM_001279354.1	33	Ggc/Agc	0	not done		benign	
REPIN1		inserm.fr	GRCh37	7	150069136	150069136	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000489432.2:c.977G>A	p.Cys326Tyr	p.C326Y	ENST00000489432	NM_001099695.1	326	tGc/tAc	0	not done		probablydamaging	
REPIN1		inserm.fr	GRCh37	7	150069158	150069158	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000489432.2:c.999G>A	p.Lys333=	p.K333=	ENST00000489432	NM_001099695.1	333	aaG/aaA	0	not done		synonymous	
PCMT1		inserm.fr	GRCh37	6	150092333	150092333	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2110Tbis																					ENST00000367384.2:c.265G>A	p.Val89Met	p.V89M	ENST00000367384		89	Gtg/Atg	0	not done		probablydamaging	
PLEKHO1		inserm.fr	GRCh37	1	150129163	150129163	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000369124.4:c.377C>A	p.Ala126Asp	p.A126D	ENST00000369124	NM_016274.4	126	gCc/gAc	0	not done		probablydamaging	
PLEKHO1		inserm.fr	GRCh37	1	150131470	150131470	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369124.4:c.982G>A	p.Gly328Arg	p.G328R	ENST00000369124	NM_016274.4	328	Gga/Aga	0	not done		possiblydamaging	
LPCAT1		inserm.fr	GRCh37	5	1501588	1501588	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1717T																					ENST00000283415.3:c.266C>T	p.Ala89Val	p.A89V	ENST00000283415	NM_024830.3	89	gCc/gTc	0	not done		benign	
LPCAT1		inserm.fr	GRCh37	5	1501622	1501622	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1531T																					ENST00000283415.3:c.232G>T	p.Gly78Cys	p.G78C	ENST00000283415	NM_024830.3	78	Ggc/Tgc	0	not done		possiblydamaging	
LRP11		inserm.fr	GRCh37	6	150184654	150184654	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2141T																					ENST00000239367.2:c.503G>T	p.Arg168Leu	p.R168L	ENST00000239367	NM_032832.5	168	cGc/cTc	0	validated		probablydamaging	
LRP11		inserm.fr	GRCh37	6	150184659	150184659	+	synonymous_variant	Silent	SNP	C	A	A			CHC1062T																					ENST00000239367.2:c.498G>T	p.Thr166=	p.T166=	ENST00000239367	NM_032832.5	166	acG/acT	0	validated		synonymous	
IRGM		inserm.fr	GRCh37	5	150227716	150227716	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000522154.1:c.31G>A	p.Ala11Thr	p.A11T	ENST00000522154	NM_001145805.1	11	Gca/Aca	0	not done		benign	
C1orf51		inserm.fr	GRCh37	1	150256290	150256290	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC2113T																					ENST00000290363.5:c.442G>A	p.Gly148Arg	p.G148R	ENST00000290363	NM_144697.2	148	Gga/Aga	0	not done		probablydamaging	
GIMAP6		inserm.fr	GRCh37	7	150325329	150325329	+	synonymous_variant	Silent	SNP	G	A	A			CHC1081T																					ENST00000328902.5:c.357C>T	p.Ser119=	p.S119=	ENST00000328902	NM_024711.5	119	tcC/tcT	0	validated		synonymous	
GIMAP6		inserm.fr	GRCh37	7	150325679	150325679	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000328902.5:c.86-79C>T		*29*	ENST00000328902	NM_024711.5			0	not done			
TNIP1		inserm.fr	GRCh37	5	150422128	150422128	+	synonymous_variant	Silent	SNP	C	A	A			CHC1753T																					ENST00000389378.2:c.1107G>T	p.Leu369=	p.L369=	ENST00000389378	NM_001252385.1	369	ctG/ctT	0	not done		synonymous	
RPRD2		inserm.fr	GRCh37	1	150444790	150444790	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000369068.4:c.3366G>A	p.Glu1122=	p.E1122=	ENST00000369068	NM_015203.3	1122	gaG/gaA	0	not done		synonymous	
TARS2		inserm.fr	GRCh37	1	150459934	150459934	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1739T																					ENST00000369064.3:c.8T>A	p.Leu3Gln	p.L3Q	ENST00000369064	NM_025150.4	3	cTg/cAg	0	not done		possiblydamaging	
TMEM176B		inserm.fr	GRCh37	7	150491106	150491106	+	synonymous_variant	Silent	SNP	G	A	A			BCM275T																					ENST00000447204.2:c.258C>T	p.Ser86=	p.S86=	ENST00000447204	NM_014020.3	86	agC/agT	0	validated		synonymous	
ANXA6		inserm.fr	GRCh37	5	150497384	150497384	+	synonymous_variant	Silent	SNP	G	A	A			BCB167T																					ENST00000354546.5:c.1453C>T	p.Leu485=	p.L485=	ENST00000354546	NM_001155.4	485	Ctg/Ttg	0	validated		synonymous	
TMEM176A		inserm.fr	GRCh37	7	150499399	150499399	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC703T																					ENST00000484928.1:c.271T>A	p.Trp91Arg	p.W91R	ENST00000484928		91	Tgg/Agg	0	validated		probablydamaging	
TMEM176A		inserm.fr	GRCh37	7	150499399	150499399	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1611T																					ENST00000484928.1:c.271T>A	p.Trp91Arg	p.W91R	ENST00000484928		91	Tgg/Agg	0	not done		probablydamaging	
ANXA6		inserm.fr	GRCh37	5	150509006	150509006	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1183T																					ENST00000354546.5:c.880C>T	p.Arg294Trp	p.R294W	ENST00000354546	NM_001155.4	294	Cgg/Tgg	0	not done		probablydamaging	
OR7C2		inserm.fr	GRCh37	19	15052747	15052747	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000248072.3:c.447G>A	p.Trp149Ter	p.W149*	ENST00000248072	NM_012377.1	149	tgG/tgA	0	not done		damaging	
KCNH2		inserm.fr	GRCh37	7	150644767	150644767	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000262186.5:c.2892C>T	p.Pro964=	p.P964=	ENST00000262186	NM_000238.3	964	ccC/ccT	0	not done		synonymous	
SLC1A6		inserm.fr	GRCh37	19	15065076	15065076	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC307T									Valid												ENST00000221742.3:c.1235C>T	p.Thr412Ile	p.T412I	ENST00000221742	NM_005071.2	412	aCc/aTc	0	validated		probablydamaging	
KCNH2		inserm.fr	GRCh37	7	150655332	150655332	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262186.5:c.731C>T	p.Ala244Val	p.A244V	ENST00000262186	NM_000238.3	244	gCg/gTg	0	not done		benign	
CLRN1		inserm.fr	GRCh37	3	150658278	150658278	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000328863.4:c.462C>T	p.His154=	p.H154=	ENST00000328863	NM_001195794.1	154	caC/caT	0	not done		synonymous	
CLRN1		inserm.fr	GRCh37	3	150661623	150661623	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000328863.4:c.254-2075C>T		*85*	ENST00000328863	NM_001195794.1			0	not done		synonymous	
HORMAD1		inserm.fr	GRCh37	1	150689646	150689646	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1738T																					ENST00000361824.2:c.146C>T	p.Pro49Leu	p.P49L	ENST00000361824	NM_032132.4	49	cCa/cTa	0	not done		probablydamaging	
ABCB8		inserm.fr	GRCh37	7	150742356	150742356	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1028T																					ENST00000358849.4:c.2077C>A	p.Gln693Lys	p.Q693K	ENST00000358849	NM_007188.3	693	Cag/Aag	0	validated		probablydamaging	
SLC4A2		inserm.fr	GRCh37	7	150772379	150772379	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC155T									Valid												ENST00000485713.1:c.3085G>A	p.Gly1029Ser	p.G1029S	ENST00000485713	NM_001199692.1	1029	Ggc/Agc	0	validated		probablydamaging	
FASTK		inserm.fr	GRCh37	7	150776096	150776096	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2215T																					ENST00000297532.6:c.518A>T	p.Asp173Val	p.D173V	ENST00000297532	NM_006712.4	173	gAt/gTt	0	not done		probablydamaging	
PASD1		inserm.fr	GRCh37	X	150840202	150840202	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1731T																					ENST00000370357.4:c.1388C>A	p.Ser463Tyr	p.S463Y	ENST00000370357	NM_173493.2	463	tCt/tAt	0	not done		probablydamaging	
PASD1		inserm.fr	GRCh37	X	150840811	150840811	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2202T																					ENST00000370357.4:c.1594C>A	p.Leu532Met	p.L532M	ENST00000370357	NM_173493.2	532	Ctg/Atg	0	validated		probablydamaging	
GBX1		inserm.fr	GRCh37	7	150845744	150845744	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000297537.4:c.1024C>T	p.Pro342Ser	p.P342S	ENST00000297537	NM_001098834.1	342	Cct/Tct	0	not done		probablydamaging	
PRRG3		inserm.fr	GRCh37	X	150868491	150868491	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC302T																					ENST00000370353.3:c.31C>A	p.His11Asn	p.H11N	ENST00000370353		11	Cat/Aat	0	validated		probablydamaging	
ASB10		inserm.fr	GRCh37	7	150873257	150873257	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000420175.2:c.1346C>T	p.Pro449Leu	p.P449L	ENST00000420175		449	cCc/cTc	0	not done		probablydamaging	
MED12L		inserm.fr	GRCh37	3	150876475	150876475	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000474524.1:c.727-1G>A		p.X243_splice	ENST00000474524	NM_053002.4			0	not done		damaging	
ASB10		inserm.fr	GRCh37	7	150878051	150878051	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1749T																					ENST00000420175.2:c.1079G>T	p.Arg360Leu	p.R360L	ENST00000420175		360	cGt/cTt	0	not done		probablydamaging	
FAT2		inserm.fr	GRCh37	5	150885612	150885612	+	synonymous_variant	Silent	SNP	G	A	A			CHC2115T																					ENST00000261800.5:c.12564C>T	p.Asn4188=	p.N4188=	ENST00000261800	NM_001447.2	4188	aaC/aaT	0	not done		synonymous	
MED12L		inserm.fr	GRCh37	3	150906212	150906212	+	synonymous_variant	Silent	SNP	G	A	A			BCM269T																					ENST00000474524.1:c.1698G>A	p.Leu566=	p.L566=	ENST00000474524	NM_053002.4	566	ttG/ttA	0	validated		synonymous	
CNGA2		inserm.fr	GRCh37	X	150912016	150912016	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1531T																					ENST00000329903.4:c.1041T>A	p.Asp347Glu	p.D347E	ENST00000329903	NM_005140.1	347	gaT/gaA	0	not done		probablydamaging	
CNGA2		inserm.fr	GRCh37	X	150912090	150912090	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000329903.4:c.1115G>A	p.Gly372Asp	p.G372D	ENST00000329903	NM_005140.1	372	gGc/gAc	0	not done		probablydamaging	
FAT2		inserm.fr	GRCh37	5	150914171	150914171	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM375T									Valid												ENST00000261800.5:c.9226G>T	p.Glu3076Ter	p.E3076*	ENST00000261800	NM_001447.2	3076	Gaa/Taa	0	validated		damaging	
SETDB1		inserm.fr	GRCh37	1	150915333	150915333	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC898T																					ENST00000271640.5:c.679G>A	p.Gly227Arg	p.G227R	ENST00000271640	NM_001145415.1	227	Ggg/Agg	0	not done		probablydamaging	
ABCF2		inserm.fr	GRCh37	7	150915649	150915649	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000222388.2:c.1225G>T	p.Gly409Trp	p.G409W	ENST00000222388	NM_005692.4	409	Ggg/Tgg	0	not done		possiblydamaging	
ABCF2		inserm.fr	GRCh37	7	150919686	150919686	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000222388.2:c.739C>T	p.Pro247Ser	p.P247S	ENST00000222388	NM_005692.4	247	Ccc/Tcc	0	not done		probablydamaging	
FAT2		inserm.fr	GRCh37	5	150922526	150922526	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000261800.5:c.8162C>T	p.Pro2721Leu	p.P2721L	ENST00000261800	NM_001447.2	2721	cCa/cTa	0	not done		probablydamaging	
P2RY14		inserm.fr	GRCh37	3	150931147	150931147	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000309170.3:c.958C>T	p.Leu320=	p.L320=	ENST00000309170	NM_014879.3	320	Cta/Tta	0	not done		synonymous	
CHPF2		inserm.fr	GRCh37	7	150932612	150932612	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000035307.2:c.742G>A	p.Gly248Arg	p.G248R	ENST00000035307	NM_019015.1	248	Gga/Aga	0	not done		possiblydamaging	
CHPF2		inserm.fr	GRCh37	7	150933545	150933545	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000035307.2:c.880G>A	p.Glu294Lys	p.E294K	ENST00000035307	NM_019015.1	294	Gaa/Aaa	0	not done		probablydamaging	
CHPF2		inserm.fr	GRCh37	7	150935098	150935098	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000035307.2:c.1650G>A	p.Ala550=	p.A550=	ENST00000035307	NM_019015.1	550	gcG/gcA	0	not done		synonymous	
CHPF2		inserm.fr	GRCh37	7	150935712	150935712	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM275T																					ENST00000035307.2:c.2264G>A	p.Gly755Asp	p.G755D	ENST00000035307	NM_019015.1	755	gGc/gAc	0	validated		benign	
FAT2		inserm.fr	GRCh37	5	150945673	150945673	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000261800.5:c.2820C>T	p.Pro940=	p.P940=	ENST00000261800	NM_001447.2	940	ccC/ccT	0	not done		synonymous	
PDXDC1		inserm.fr	GRCh37	16	15100421	15100421	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000396410.4:c.560G>A	p.Gly187Asp	p.G187D	ENST00000396410	NM_015027.2	187	gGc/gAc	0	not done		benign	
P2RY13		inserm.fr	GRCh37	3	151045994	151045994	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1192T																					ENST00000325602.5:c.850A>T	p.Asn284Tyr	p.N284Y	ENST00000325602	NM_176894.2	284	Aac/Tac	0	not done		possiblydamaging	
CLCN7		inserm.fr	GRCh37	16	1511606	1511606	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	A	A			CHC2352T																					ENST00000382745.4:c.283G>T	p.Glu95Ter	p.E95*	ENST00000382745	NM_001287.5	95	Gag/Tag	0	not done		damaging	
DCLK2		inserm.fr	GRCh37	4	151160909	151160909	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1041T																					ENST00000302176.8:c.1633G>A	p.Asp545Asn	p.D545N	ENST00000302176	NM_001040261.4	545	Gat/Aat	0	validated		benign	
ZFYVE20		inserm.fr	GRCh37	3	15116319	15116319	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000253699.3:c.1325G>T	p.Gly442Val	p.G442V	ENST00000253699	NM_022340.2	442	gGc/gTc	0	not done		probablydamaging	
G3BP1		inserm.fr	GRCh37	5	151170543	151170543	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000394123.3:c.271G>A	p.Val91Ile	p.V91I	ENST00000394123		91	Gta/Ata	0	not done		benign	
IGSF10		inserm.fr	GRCh37	3	151176397	151176397	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000282466.3:c.101C>T	p.Ala34Val	p.A34V	ENST00000282466	NM_178822.4	34	gCc/gTc	0	not done		possiblydamaging	
G3BP1		inserm.fr	GRCh37	5	151180407	151180407	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000394123.3:c.1171G>A	p.Val391Ile	p.V391I	ENST00000394123		391	Gtt/Att	0	not done		probablydamaging	
PIP5K1A		inserm.fr	GRCh37	1	151204729	151204729	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000368888.4:c.374G>A	p.Gly125Glu	p.G125E	ENST00000368888	NM_001135638.1	125	gGg/gAg	0	not done		possiblydamaging	
ACBD7		inserm.fr	GRCh37	10	15120593	15120593	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2208T																					ENST00000356189.5:c.203C>T	p.Thr68Met	p.T68M	ENST00000356189	NM_001039844.2	68	aCg/aTg	0	not done		possiblydamaging	
CCDC105		inserm.fr	GRCh37	19	15122189	15122189	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1708T																					ENST00000292574.3:c.552C>A	p.Tyr184Ter	p.Y184*	ENST00000292574	NM_173482.2	184	taC/taA	0	validated		damaging	
PSMD4		inserm.fr	GRCh37	1	151238071	151238071	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000368884.3:c.640C>A	p.Pro214Thr	p.P214T	ENST00000368884	NM_002810.2	214	Cct/Act	0	not done		probablydamaging	
RP11-126K1.2		inserm.fr	GRCh37	1	151254036	151254036	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC891T																					ENST00000447795.2:c.100A>T	p.Arg34Trp	p.R34W	ENST00000447795		34	Agg/Tgg	0	validated			
ZNF687		inserm.fr	GRCh37	1	151262355	151262355	+	synonymous_variant	Silent	SNP	C	A	A			BCB151T																					ENST00000324048.5:c.2836C>A	p.Arg946=	p.R946=	ENST00000324048		946	Cgg/Agg	0	validated		synonymous	
MAGEA10		inserm.fr	GRCh37	X	151303095	151303095	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370323.4:c.998C>T	p.Ala333Val	p.A333V	ENST00000370323	NM_021048.4	333	gCt/gTt	0	not done		probablydamaging	
MAGEA10		inserm.fr	GRCh37	X	151303769	151303769	+	synonymous_variant	Silent	SNP	G	A	A			CHC313T																					ENST00000370323.4:c.324C>T	p.Gly108=	p.G108=	ENST00000370323	NM_021048.4	108	ggC/ggT	0	validated		synonymous	
MAGEA10		inserm.fr	GRCh37	X	151303925	151303925	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000370323.4:c.168C>T	p.Ser56=	p.S56=	ENST00000370323	NM_021048.4	56	tcC/tcT	0	not done		synonymous	
PSMB4		inserm.fr	GRCh37	1	151373785	151373785	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1201T																					ENST00000290541.6:c.647G>A	p.Arg216His	p.R216H	ENST00000290541	NM_002796.2	216	cGc/cAc	0	not done		benign	
POGZ		inserm.fr	GRCh37	1	151378748	151378748	+	synonymous_variant	Silent	SNP	G	A	A			CHC884T																					ENST00000271715.2:c.2763C>T	p.Pro921=	p.P921=	ENST00000271715	NM_015100.3	921	ccC/ccT	0	validated		synonymous	
C10orf111		inserm.fr	GRCh37	10	15138470	15138470	+	synonymous_variant	Silent	SNP	G	A	A			CHC2115T																					ENST00000378207.3:c.354C>T	p.Leu118=	p.L118=	ENST00000378207	NM_153244.1	118	ctC/ctT	0	not done		synonymous	
DLGAP2		inserm.fr	GRCh37	8	1513959	1513959	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000421627.2:c.1101C>A	p.Ser367Arg	p.S367R	ENST00000421627	NM_004745.4	367	agC/agA	0	not done		probablydamaging	
GABRA3		inserm.fr	GRCh37	X	151424363	151424363	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000370314.4:c.438C>T	p.Ile146=	p.I146=	ENST00000370314	NM_000808.3	146	atC/atT	0	not done		synonymous	
CGN		inserm.fr	GRCh37	1	151491157	151491157	+	synonymous_variant	Silent	SNP	T	A	A			BCB109T																					ENST00000271636.7:c.162T>A	p.Ala54=	p.A54=	ENST00000271636	NM_020770.2	54	gcT/gcA	0	validated		synonymous	
CGN		inserm.fr	GRCh37	1	151497234	151497234	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000271636.7:c.1486G>A	p.Glu496Lys	p.E496K	ENST00000271636	NM_020770.2	496	Gag/Aag	0	not done		probablydamaging	
MAB21L2		inserm.fr	GRCh37	4	151504583	151504583	+	synonymous_variant	Silent	SNP	G	A	A			CHC1211T																					ENST00000317605.4:c.402G>A	p.Thr134=	p.T134=	ENST00000317605	NM_006439.4	134	acG/acA	0	not done		synonymous	
CGN		inserm.fr	GRCh37	1	151506541	151506541	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000271636.7:c.2833G>A	p.Gly945Arg	p.G945R	ENST00000271636	NM_020770.2	945	Ggg/Agg	0	not done		possiblydamaging	
SUCNR1		inserm.fr	GRCh37	3	151599145	151599145	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC304T																					ENST00000362032.5:c.814G>A	p.Val272Ile	p.V272I	ENST00000362032	NM_033050.4	272	Gtc/Atc	0	validated		benign	
GALNTL5		inserm.fr	GRCh37	7	151664485	151664485	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1629T																					ENST00000392800.2:c.154G>A	p.Val52Met	p.V52M	ENST00000392800	NM_145292.3	52	Gtg/Atg	0	not done		benign	
CELF3		inserm.fr	GRCh37	1	151678435	151678435	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1700T																					ENST00000290583.4:c.1133A>T	p.Asp378Val	p.D378V	ENST00000290583	NM_001172648.1	378	gAt/gTt	0	not done		possiblydamaging	
CELF3		inserm.fr	GRCh37	1	151679687	151679687	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000290583.4:c.856C>T	p.Pro286Ser	p.P286S	ENST00000290583	NM_001172648.1	286	Ccc/Tcc	0	not done		possiblydamaging	
NMUR2		inserm.fr	GRCh37	5	151771904	151771904	+	synonymous_variant	Silent	SNP	G	A	A			BCM339T																					ENST00000255262.3:c.1096C>T	p.Leu366=	p.L366=	ENST00000255262	NM_020167.4	366	Ctg/Ttg	0	validated		synonymous	
NMUR2		inserm.fr	GRCh37	5	151772005	151772005	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000255262.3:c.995G>T	p.Arg332Leu	p.R332L	ENST00000255262	NM_020167.4	332	cGc/cTc	0	not done		probablydamaging	
NMUR2		inserm.fr	GRCh37	5	151784061	151784061	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1596T																					ENST00000255262.3:c.614C>T	p.Thr205Met	p.T205M	ENST00000255262	NM_020167.4	205	aCg/aTg	0	validated		possiblydamaging	
NMUR2		inserm.fr	GRCh37	5	151784378	151784378	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1137T																					ENST00000255262.3:c.297G>T	p.Met99Ile	p.M99I	ENST00000255262	NM_020167.4	99	atG/atT	0	not done		probablydamaging	
GABRQ		inserm.fr	GRCh37	X	151806723	151806723	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370306.2:c.67G>A	p.Gly23Ser	p.G23S	ENST00000370306	NM_018558.3	23	Ggc/Agc	0	not done		benign	
GABRQ		inserm.fr	GRCh37	X	151821623	151821623	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370306.2:c.1778G>A	p.Gly593Glu	p.G593E	ENST00000370306	NM_018558.3	593	gGg/gAg	0	not done		benign	
MLL3		inserm.fr	GRCh37	7	151859425	151859425	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2098T																					ENST00000262189.6:c.11237G>T	p.Gly3746Val	p.G3746V	ENST00000262189	NM_170606.2	3746	gGa/gTa	0	not done		benign	
TTC39B		inserm.fr	GRCh37	9	15186995	15186995	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1725T																					ENST00000512701.2:c.1434G>T	p.Met478Ile	p.M478I	ENST00000512701		478	atG/atT	0	not done		probablydamaging	
RRN3		inserm.fr	GRCh37	16	15188058	15188058	+	synonymous_variant	Silent	SNP	C	A	A			CHC433T																					ENST00000198767.6:c.33G>T	p.Pro11=	p.P11=	ENST00000198767	NM_018427.3	11	ccG/ccT	0	validated		synonymous	
LRBA		inserm.fr	GRCh37	4	151935663	151935663	+	synonymous_variant	Silent	SNP	G	A	A			CHC703T																					ENST00000357115.3:c.132C>T	p.Ile44=	p.I44=	ENST00000357115	NM_006726.4	44	atC/atT	0	not done		synonymous	
MLL3		inserm.fr	GRCh37	7	151945586	151945586	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1734T																					ENST00000262189.6:c.1933G>T	p.Asp645Tyr	p.D645Y	ENST00000262189	NM_170606.2	645	Gat/Tat	0	not done		possiblydamaging	
MLL3		inserm.fr	GRCh37	7	151949791	151949791	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1079T																					ENST00000262189.6:c.1309A>T	p.Ile437Leu	p.I437L	ENST00000262189	NM_170606.2	437	Ata/Tta	0	not done		probablydamaging	
OR1I1		inserm.fr	GRCh37	19	15198124	15198124	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000209540.2:c.248C>A	p.Ala83Glu	p.A83E	ENST00000209540	NM_001004713.1	83	gCg/gAg	0	not done		possiblydamaging	
NSDHL		inserm.fr	GRCh37	X	152037581	152037581	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370274.3:c.1043G>A	p.Gly348Asp	p.G348D	ENST00000370274	NM_015922.2	348	gGc/gAc	0	not done		probablydamaging	
TCHHL1		inserm.fr	GRCh37	1	152058272	152058272	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000368806.1:c.1886C>T	p.Ala629Val	p.A629V	ENST00000368806	NM_001008536.1	629	gCc/gTc	0	not done		benign	
TMEM14E		inserm.fr	GRCh37	3	152058649	152058649	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000408960.3:c.45C>T	p.Gly15=	p.G15=	ENST00000408960	NM_001123228.1	15	ggC/ggT	0	not done		synonymous	
TCHHL1		inserm.fr	GRCh37	1	152060500	152060500	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1743T																					ENST00000368806.1:c.120G>T	p.Glu40Asp	p.E40D	ENST00000368806	NM_001008536.1	40	gaG/gaT	0	not done		probablydamaging	
TPO		inserm.fr	GRCh37	2	1520718	1520718	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1754T																					ENST00000345913.4:c.2582G>A	p.Gly861Asp	p.G861D	ENST00000345913	NM_000547.5	861	gGc/gAc	0	not done		possiblydamaging	
TCHH		inserm.fr	GRCh37	1	152080493	152080493	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM791T																					ENST00000368804.1:c.5200G>T	p.Glu1734Ter	p.E1734*	ENST00000368804	NM_007113.3	1734	Gaa/Taa	0	validated		damaging	
TCHH		inserm.fr	GRCh37	1	152081181	152081181	+	synonymous_variant	Silent	SNP	G	A	A			CHC1079T																					ENST00000368804.1:c.4512C>T	p.Arg1504=	p.R1504=	ENST00000368804	NM_007113.3	1504	cgC/cgT	0	not done		synonymous	
SH3D19		inserm.fr	GRCh37	4	152096005	152096005	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000304527.4:c.511G>T	p.Ala171Ser	p.A171S	ENST00000304527	NM_001009555.3	171	Gca/Tca	0	not done		benign	
ZNF185		inserm.fr	GRCh37	X	152110351	152110351	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000535861.1:c.1305-3460G>A		*435*	ENST00000535861	NM_001178106.1			0	not done		synonymous	
RPTN		inserm.fr	GRCh37	1	152128923	152128923	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000316073.3:c.652C>T	p.Gln218Ter	p.Q218*	ENST00000316073	NM_001122965.1	218	Cag/Tag	0	not done		damaging	
ESR1		inserm.fr	GRCh37	6	152129352	152129352	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000206249.3:c.305G>A	p.Ser102Asn	p.S102N	ENST00000206249	NM_000125.3	102	aGc/aAc	0	not done		benign	
HRNR		inserm.fr	GRCh37	1	152190767	152190767	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1041T																					ENST00000368801.2:c.3338C>T	p.Ser1113Phe	p.S1113F	ENST00000368801	NM_001009931.2	1113	tCt/tTt	0	validated		probablydamaging	
HRNR		inserm.fr	GRCh37	1	152192390	152192390	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000368801.2:c.1715G>T	p.Gly572Val	p.G572V	ENST00000368801	NM_001009931.2	572	gGc/gTc	0	not done		probablydamaging	
SYDE1		inserm.fr	GRCh37	19	15220536	15220536	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1205T									Valid												ENST00000342784.2:c.452C>A	p.Pro151Gln	p.P151Q	ENST00000342784	NM_033025.4	151	cCa/cAa	0	validated		possiblydamaging	
PNMA3		inserm.fr	GRCh37	X	152226311	152226311	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000447306.1:c.899G>A	p.Gly300Glu	p.G300E	ENST00000447306	NM_013364.4	300	gGg/gAg	0	not done		probablydamaging	
PNMA3		inserm.fr	GRCh37	X	152226623	152226623	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC793T									Valid												ENST00000447306.1:c.1211G>A	p.Gly404Asp	p.G404D	ENST00000447306	NM_013364.4	404	gGc/gAc	0	validated		probablydamaging	
TNFAIP6		inserm.fr	GRCh37	2	152236022	152236022	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC805T																					ENST00000243347.3:c.809T>A	p.Leu270Ter	p.L270*	ENST00000243347	NM_007115.3	270	tTa/tAa	0	not done		damaging	
SYDE1		inserm.fr	GRCh37	19	15224581	15224581	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000342784.2:c.2015G>A	p.Gly672Glu	p.G672E	ENST00000342784	NM_033025.4	672	gGg/gAg	0	validated		benign	
FLG		inserm.fr	GRCh37	1	152276742	152276742	+	synonymous_variant	Silent	SNP	G	A	A			CHC1010T																					ENST00000368799.1:c.10620C>T	p.Ser3540=	p.S3540=	ENST00000368799	NM_002016.1	3540	agC/agT	0	not done		synonymous	
FLG		inserm.fr	GRCh37	1	152278606	152278606	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000368799.1:c.8756C>T	p.Ala2919Val	p.A2919V	ENST00000368799	NM_002016.1	2919	gCt/gTt	0	not done		benign	
FLG		inserm.fr	GRCh37	1	152279676	152279676	+	synonymous_variant	Silent	SNP	G	A	A			CHC1053T																					ENST00000368799.1:c.7686C>T	p.Asn2562=	p.N2562=	ENST00000368799	NM_002016.1	2562	aaC/aaT	0	validated		synonymous	
FLG		inserm.fr	GRCh37	1	152280906	152280906	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000368799.1:c.6456C>T	p.Ser2152=	p.S2152=	ENST00000368799	NM_002016.1	2152	tcC/tcT	0	not done		synonymous	
FLG		inserm.fr	GRCh37	1	152283888	152283888	+	synonymous_variant	Silent	SNP	G	A	A			CHC1040T																					ENST00000368799.1:c.3474C>T	p.Ser1158=	p.S1158=	ENST00000368799	NM_002016.1	1158	tcC/tcT	0	not done		synonymous	
RIF1		inserm.fr	GRCh37	2	152321225	152321225	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC884T																					ENST00000243326.5:c.5191G>A	p.Gly1731Ser	p.G1731S	ENST00000243326		1731	Ggt/Agt	0	validated		benign	
FLG2		inserm.fr	GRCh37	1	152326437	152326437	+	synonymous_variant	Silent	SNP	G	A	A			CHC1183T																					ENST00000388718.5:c.3825C>T	p.Asn1275=	p.N1275=	ENST00000388718	NM_001014342.2	1275	aaC/aaT	0	not done		synonymous	
FLG2		inserm.fr	GRCh37	1	152328565	152328565	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000388718.5:c.1697G>T	p.Gly566Val	p.G566V	ENST00000388718	NM_001014342.2	566	gGc/gTc	0	not done		possiblydamaging	
XRCC2		inserm.fr	GRCh37	7	152346132	152346132	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC898T																					ENST00000359321.1:c.438G>T	p.Leu146Phe	p.L146F	ENST00000359321	NM_005431.1	146	ttG/ttT	0	not done		possiblydamaging	
CRNN		inserm.fr	GRCh37	1	152382254	152382254	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000271835.3:c.1304C>T	p.Pro435Leu	p.P435L	ENST00000271835	NM_016190.2	435	cCc/cTc	0	not done		probablydamaging	
SYNE1		inserm.fr	GRCh37	6	152462365	152462365	+	synonymous_variant	Silent	SNP	G	A	A			CHC1601T																					ENST00000367255.5:c.25219C>T	p.Leu8407=	p.L8407=	ENST00000367255	NM_182961.3	8407	Ctg/Ttg	0	not done		synonymous	
NEB		inserm.fr	GRCh37	2	152471068	152471068	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC121T																					ENST00000397345.3:c.11323G>T	p.Gly3775Cys	p.G3775C	ENST00000397345	NM_001164508.1	3775	Ggc/Tgc	0	validated		probablydamaging	
SYNE1		inserm.fr	GRCh37	6	152472789	152472789	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000367255.5:c.24349C>T	p.Arg8117Trp	p.R8117W	ENST00000367255	NM_182961.3	8117	Cgg/Tgg	0	validated		probablydamaging	
NEB		inserm.fr	GRCh37	2	152492763	152492763	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM783T																					ENST00000397345.3:c.9080C>T	p.Ala3027Val	p.A3027V	ENST00000397345	NM_001164508.1	3027	gCc/gTc	0	validated			
NEB		inserm.fr	GRCh37	2	152499322	152499322	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC218T																					ENST00000397345.3:c.8222C>T	p.Pro2741Leu	p.P2741L	ENST00000397345	NM_001164508.1	2741	cCt/cTt	0	validated		probablydamaging	
NEB		inserm.fr	GRCh37	2	152524424	152524424	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000397345.3:c.4613C>T	p.Ala1538Val	p.A1538V	ENST00000397345	NM_001164508.1	1538	gCt/gTt	0	not done		benign	
LCE3E		inserm.fr	GRCh37	1	152538649	152538649	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000368789.1:c.36C>T	p.Pro12=	p.P12=	ENST00000368789	NM_178435.3	12	ccC/ccT	0	not done		synonymous	
FAM171A1		inserm.fr	GRCh37	10	15255898	15255898	+	synonymous_variant	Silent	SNP	G	A	A			CHC1736T																					ENST00000378116.4:c.1689C>T	p.Cys563=	p.C563=	ENST00000378116	NM_001010924.1	563	tgC/tgT	0	not done		synonymous	
NEB		inserm.fr	GRCh37	2	152584394	152584394	+	synonymous_variant	Silent	SNP	C	A	A			CHC805T																					ENST00000397345.3:c.105G>T	p.Thr35=	p.T35=	ENST00000397345	NM_001164508.1	35	acG/acT	0	not done		synonymous	
LCE3A		inserm.fr	GRCh37	1	152595451	152595451	+	synonymous_variant	Silent	SNP	G	A	A			CHC902T																					ENST00000335674.1:c.129C>T	p.Ser43=	p.S43=	ENST00000335674	NM_178431.1	43	tcC/tcT	0	not done		synonymous	
SYNE1		inserm.fr	GRCh37	6	152642960	152642960	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC917T																					ENST00000367255.5:c.15979A>T	p.Met5327Leu	p.M5327L	ENST00000367255	NM_182961.3	5327	Atg/Ttg	0	validated		benign	
SYNE1		inserm.fr	GRCh37	6	152680454	152680454	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000367255.5:c.10439C>T	p.Ala3480Val	p.A3480V	ENST00000367255	NM_182961.3	3480	gCc/gTc	0	not done		possiblydamaging	
ZFP92		inserm.fr	GRCh37	X	152686203	152686203	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB167T																					ENST00000338647.5:c.368G>A	p.Arg123Lys	p.R123K	ENST00000338647	NM_001136273.1	123	aGg/aAg	0	validated		benign	
ZFP92		inserm.fr	GRCh37	X	152686429	152686429	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2128T																					ENST00000338647.5:c.594C>A	p.His198Gln	p.H198Q	ENST00000338647	NM_001136273.1	198	caC/caA	0	not done		probablydamaging	
TREX2		inserm.fr	GRCh37	X	152710256	152710256	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1065T																					ENST00000330912.2:c.633G>T	p.Trp211Cys	p.W211C	ENST00000330912		211	tgG/tgT	0	validated		benign	
TREX2		inserm.fr	GRCh37	X	152710637	152710637	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000330912.2:c.252C>T	p.Gly84=	p.G84=	ENST00000330912		84	ggC/ggT	0	not done		synonymous	
KPRP		inserm.fr	GRCh37	1	152733063	152733063	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000368773.1:c.999C>A	p.Cys333Ter	p.C333*	ENST00000368773	NM_001025231.1	333	tgC/tgA	0	not done		damaging	
NOTCH3		inserm.fr	GRCh37	19	15276765	15276765	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2351T																					ENST00000263388.2:c.5500C>T	p.Arg1834Trp	p.R1834W	ENST00000263388	NM_000435.2	1834	Cgg/Tgg	0	not done		probablydamaging	
LCE1A		inserm.fr	GRCh37	1	152800039	152800039	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000335123.2:c.91C>A	p.Pro31Thr	p.P31T	ENST00000335123	NM_178348.2	31	Cca/Aca	0	not done		probablydamaging	
ATP2B3		inserm.fr	GRCh37	X	152807851	152807851	+	synonymous_variant	Silent	SNP	G	A	A			CHC469T																					ENST00000263519.4:c.735G>A	p.Thr245=	p.T245=	ENST00000263519	NM_001001344.2	245	acG/acA	0	validated		synonymous	
ATP2B3		inserm.fr	GRCh37	X	152826234	152826234	+	synonymous_variant	Silent	SNP	G	A	A			BCM329T																					ENST00000263519.4:c.2940G>A	p.Gln980=	p.Q980=	ENST00000263519	NM_001001344.2	980	caG/caA	0	validated		synonymous	
ATP2B3		inserm.fr	GRCh37	X	152827615	152827615	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM545T																					ENST00000263519.4:c.3074G>A	p.Gly1025Glu	p.G1025E	ENST00000263519	NM_001001344.2	1025	gGg/gAg	0	validated		probablydamaging	
ATP2B3		inserm.fr	GRCh37	X	152830517	152830517	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000263519.4:c.3298G>A	p.Gly1100Ser	p.G1100S	ENST00000263519	NM_001001344.2	1100	Ggc/Agc	0	not done		possiblydamaging	
FAM58A		inserm.fr	GRCh37	X	152858169	152858169	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1053T																					ENST00000406277.2:c.446C>T	p.Ser149Phe	p.S149F	ENST00000406277	NM_152274.4	149	tCc/tTc	0	validated		probablydamaging	
IVL		inserm.fr	GRCh37	1	152883146	152883146	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000368764.3:c.873G>A	p.Gly291=	p.G291=	ENST00000368764		291	ggG/ggA	0	not done		synonymous	
NOTCH3		inserm.fr	GRCh37	19	15295143	15295143	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000263388.2:c.2529C>T	p.Gly843=	p.G843=	ENST00000263388	NM_000435.2	843	ggC/ggT	0	not done		synonymous	
ABCD1		inserm.fr	GRCh37	X	153005600	153005600	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1774T																					ENST00000218104.3:c.1543T>A	p.Ser515Thr	p.S515T	ENST00000218104	NM_000033.3	515	Tcc/Acc	0	validated		probablydamaging	
PDZD4		inserm.fr	GRCh37	X	153069480	153069480	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000164640.4:c.1638C>T	p.Gly546=	p.G546=	ENST00000164640	NM_032512.2	546	ggC/ggT	0	not done		synonymous	
GRIA1		inserm.fr	GRCh37	5	153085558	153085558	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC433T									Valid												ENST00000518783.1:c.1784T>A	p.Phe595Tyr	p.F595Y	ENST00000518783	NM_001258021.1	595	tTt/tAt	0	validated		probablydamaging	
SPRR2G		inserm.fr	GRCh37	1	153122398	153122398	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000368748.4:c.189C>T	p.Pro63=	p.P63=	ENST00000368748	NM_001014291.3	63	ccC/ccT	0	not done		synonymous	
L1CAM		inserm.fr	GRCh37	X	153130364	153130364	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000370060.1:c.2958C>T	p.His986=	p.H986=	ENST00000370060	NM_001278116.1	986	caC/caT	0	not done		synonymous	
L1CAM		inserm.fr	GRCh37	X	153135077	153135077	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000370060.1:c.1165C>T	p.Leu389=	p.L389=	ENST00000370060	NM_001278116.1	389	Ctg/Ttg	0	not done		synonymous	
L1CAM		inserm.fr	GRCh37	X	153135539	153135539	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000370060.1:c.963C>T	p.Ala321=	p.A321=	ENST00000370060	NM_001278116.1	321	gcC/gcT	0	not done		synonymous	
LELP1		inserm.fr	GRCh37	1	153177300	153177300	+	synonymous_variant	Silent	SNP	G	A	A			CHC320T																					ENST00000368747.1:c.117G>A	p.Leu39=	p.L39=	ENST00000368747	NM_001010857.2	39	ctG/ctA	0	validated		synonymous	
ARHGAP4		inserm.fr	GRCh37	X	153178727	153178727	+	synonymous_variant	Silent	SNP	G	A	A			CHC1731T																					ENST00000370028.3:c.1476C>T	p.Ser492=	p.S492=	ENST00000370028	NM_001164741.1	492	agC/agT	0	not done		synonymous	
ARHGAP4		inserm.fr	GRCh37	X	153186166	153186166	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM423T																					ENST00000370028.3:c.595A>T	p.Ser199Cys	p.S199C	ENST00000370028	NM_001164741.1	199	Agt/Tgt	0	validated		probablydamaging	
ARHGAP4		inserm.fr	GRCh37	X	153186860	153186860	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000370028.3:c.393C>T	p.Arg131=	p.R131=	ENST00000370028	NM_001164741.1	131	cgC/cgT	0	not done		synonymous	
RENBP		inserm.fr	GRCh37	X	153200970	153200970	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000393700.3:c.1137C>T	p.Ala379=	p.A379=	ENST00000393700	NM_002910.5	379	gcC/gcT	0	not done		synonymous	
RENBP		inserm.fr	GRCh37	X	153207455	153207455	+	synonymous_variant	Silent	SNP	C	A	A			CHC736T																					ENST00000393700.3:c.717G>T	p.Val239=	p.V239=	ENST00000393700	NM_002910.5	239	gtG/gtT	0	validated		synonymous	
HCFC1		inserm.fr	GRCh37	X	153216335	153216335	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC303T																					ENST00000310441.7:c.5632A>T	p.Ser1878Cys	p.S1878C	ENST00000310441	NM_005334.2	1878	Agc/Tgc	0	validated		probablydamaging	
IRAK1		inserm.fr	GRCh37	X	153278823	153278823	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369980.3:c.1601C>T	p.Ala534Val	p.A534V	ENST00000369980	NM_001569.3	534	gCc/gTc	0	not done		benign	
FMNL2		inserm.fr	GRCh37	2	153476186	153476186	+	synonymous_variant	Silent	SNP	G	A	A			CHC794T																					ENST00000288670.9:c.1791G>A	p.Leu597=	p.L597=	ENST00000288670	NM_052905.3	597	ctG/ctA	0	validated		synonymous	
GALNT10		inserm.fr	GRCh37	5	153570564	153570564	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000297107.6:c.138G>A	p.Ala46=	p.A46=	ENST00000297107	NM_198321.3	46	gcG/gcA	0	not done		synonymous	
DPP6		inserm.fr	GRCh37	7	153584804	153584804	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000404039.1:c.36G>A	p.Met12Ile	p.M12I	ENST00000404039	NM_130797.2	12	atG/atA	0	not done			
FLNA		inserm.fr	GRCh37	X	153599341	153599341	+	synonymous_variant	Silent	SNP	G	A	A			BCM769T																					ENST00000369850.3:c.273C>T	p.Arg91=	p.R91=	ENST00000369850	NM_001110556.1	91	cgC/cgT	0	validated		synonymous	
FLNA		inserm.fr	GRCh37	X	153599342	153599342	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM769T																					ENST00000369850.3:c.272G>T	p.Arg91Leu	p.R91L	ENST00000369850	NM_001110556.1	91	cGc/cTc	0	validated		probablydamaging	
RPL10		inserm.fr	GRCh37	X	153629331	153629331	+	3_prime_UTR_variant	3'UTR	SNP	C	A	A			BCM783T																					ENST00000424325.2:c.*136C>A		*46*	ENST00000424325	NM_006013.3			0	validated			
PTX4		inserm.fr	GRCh37	16	1536432	1536432	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000293922.1:c.930C>T	p.Ser310=	p.S310=	ENST00000293922	NM_001013658.1	310	tcC/tcT	0	not done		synonymous	
NPR1		inserm.fr	GRCh37	1	153651804	153651804	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB151T																					ENST00000368680.3:c.220C>A	p.Pro74Thr	p.P74T	ENST00000368680	NM_000906.3	74	Ccg/Acg	0	validated		benign	
GDI1		inserm.fr	GRCh37	X	153667157	153667157	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000447750.2:c.200G>A	p.Gly67Asp	p.G67D	ENST00000447750	NM_001493.2	67	gGc/gAc	0	not done		probablydamaging	
FAM50A		inserm.fr	GRCh37	X	153674186	153674186	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000393600.3:c.223G>A	p.Ala75Thr	p.A75T	ENST00000393600	NM_004699.3	75	Gcc/Acc	0	not done		possiblydamaging	
FAM50A		inserm.fr	GRCh37	X	153677642	153677642	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2321T																					ENST00000393600.3:c.722T>A	p.Leu241Gln	p.L241Q	ENST00000393600	NM_004699.3	241	cTg/cAg	0	validated		probablydamaging	
FAM50A		inserm.fr	GRCh37	X	153678619	153678619	+	synonymous_variant	Silent	SNP	C	A	A			CHC2128T																					ENST00000393600.3:c.963C>A	p.Ala321=	p.A321=	ENST00000393600	NM_004699.3	321	gcC/gcA	0	not done		synonymous	
FAM50A		inserm.fr	GRCh37	X	153678629	153678629	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1180T																					ENST00000393600.3:c.973G>A	p.Glu325Lys	p.E325K	ENST00000393600	NM_004699.3	325	Gaa/Aaa	0	validated		probablydamaging	
TIGD4		inserm.fr	GRCh37	4	153690850	153690850	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000304337.2:c.1307G>T	p.Gly436Val	p.G436V	ENST00000304337	NM_145720.3	436	gGt/gTt	0	not done		benign	
PLXNA3		inserm.fr	GRCh37	X	153694560	153694560	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369682.3:c.2746G>A	p.Gly916Ser	p.G916S	ENST00000369682	NM_017514.3	916	Ggt/Agt	0	not done		possiblydamaging	
PLXNA3		inserm.fr	GRCh37	X	153696288	153696288	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369682.3:c.3764G>A	p.Arg1255His	p.R1255H	ENST00000369682	NM_017514.3	1255	cGt/cAt	0	not done		probablydamaging	
PLXNA3		inserm.fr	GRCh37	X	153698366	153698366	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000369682.3:c.4842G>A	p.Arg1614=	p.R1614=	ENST00000369682	NM_017514.3	1614	cgG/cgA	0	not done		synonymous	
KAZN		inserm.fr	GRCh37	1	15370595	15370595	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000376030.2:c.666G>A	p.Leu222=	p.L222=	ENST00000376030	NM_201628.2	222	ctG/ctA	0	not done		synonymous	
GALNT10		inserm.fr	GRCh37	5	153709202	153709202	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1152T																					ENST00000297107.6:c.472T>A	p.Trp158Arg	p.W158R	ENST00000297107	NM_198321.3	158	Tgg/Agg	0	validated		possiblydamaging	
G6PD		inserm.fr	GRCh37	X	153760478	153760478	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000393562.2:c.1472C>T	p.Ala491Val	p.A491V	ENST00000393562	NM_000402.3	491	gCc/gTc	0	not done		probablydamaging	
GALNT10		inserm.fr	GRCh37	5	153765904	153765904	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM321T																					ENST00000297107.6:c.970G>A	p.Val324Met	p.V324M	ENST00000297107	NM_198321.3	324	Gtg/Atg	0	validated		probablydamaging	
FHDC1		inserm.fr	GRCh37	4	153895892	153895892	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000511601.1:c.1449G>A	p.Lys483=	p.K483=	ENST00000511601		483	aaG/aaA	0	not done		synonymous	
FHDC1		inserm.fr	GRCh37	4	153897053	153897053	+	synonymous_variant	Silent	SNP	G	A	A			BCB109T																					ENST00000511601.1:c.2610G>A	p.Ala870=	p.A870=	ENST00000511601		870	gcG/gcA	0	validated		synonymous	
FHDC1		inserm.fr	GRCh37	4	153897580	153897580	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000511601.1:c.3137G>A	p.Ser1046Asn	p.S1046N	ENST00000511601		1046	aGc/aAc	0	not done		benign	
KAZN		inserm.fr	GRCh37	1	15390118	15390118	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000376030.2:c.1098G>A	p.Gln366=	p.Q366=	ENST00000376030	NM_201628.2	366	caG/caA	0	not done		damaging	
DENND4B		inserm.fr	GRCh37	1	153916713	153916713	+	synonymous_variant	Silent	SNP	G	A	A			CHC1611T																					ENST00000361217.4:c.138C>T	p.Pro46=	p.P46=	ENST00000361217	NM_014856.2	46	ccC/ccT	0	not done		synonymous	
GAB3		inserm.fr	GRCh37	X	153944400	153944400	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM275T									Valid												ENST00000424127.2:c.277C>T	p.Arg93Cys	p.R93C	ENST00000424127		93	Cgt/Tgt	0	validated		probablydamaging	
TUSC3		inserm.fr	GRCh37	8	15397977	15397977	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC155T									Valid												ENST00000503731.1:c.38C>A	p.Ala13Glu	p.A13E	ENST00000503731	NM_006765.3	13	gCg/gAg	0	validated		possiblydamaging	
DKC1		inserm.fr	GRCh37	X	153994584	153994584	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000369550.5:c.357G>A	p.Gly119=	p.G119=	ENST00000369550	NM_001363.3	119	ggG/ggA	0	not done		synonymous	
GPR149		inserm.fr	GRCh37	3	154146870	154146870	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC798T																					ENST00000389740.2:c.535C>T	p.Pro179Ser	p.P179S	ENST00000389740	NM_001038705.1	179	Ccc/Tcc	0	validated		benign	
GPR149		inserm.fr	GRCh37	3	154147179	154147179	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM617T																					ENST00000389740.2:c.226G>T	p.Val76Leu	p.V76L	ENST00000389740	NM_001038705.1	76	Gtg/Ttg	0	validated		benign	
TPM3		inserm.fr	GRCh37	1	154163692	154163692	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1205T																					ENST00000368530.2:c.213G>T	p.Lys71Asn	p.K71N	ENST00000368530	NM_152263.3	71	aaG/aaT	0	not done		benign	
UBAP2L		inserm.fr	GRCh37	1	154199757	154199757	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000428931.1:c.91-1G>A		p.X31_splice	ENST00000428931	NM_014847.3			0	not done		damaging	
KAZN		inserm.fr	GRCh37	1	15421427	15421427	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	A	A			CHC304T																					ENST00000376030.2:c.1545C>A	p.Arg515=	p.R515=	ENST00000376030	NM_201628.2	515	cgC/cgA	0	validated		synonymous	
CNOT8		inserm.fr	GRCh37	5	154250370	154250370	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1531T																					ENST00000517876.1:c.461T>A	p.Leu154His	p.L154H	ENST00000517876		154	cTt/cAt	0	not done		probablydamaging	
GEMIN5		inserm.fr	GRCh37	5	154272071	154272071	+	synonymous_variant	Silent	SNP	C	A	A			BCM711T																					ENST00000285873.7:c.3636G>T	p.Val1212=	p.V1212=	ENST00000285873	NM_001252156.1	1212	gtG/gtT	0	validated		synonymous	
GEMIN5		inserm.fr	GRCh37	5	154278000	154278000	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			BCM759T																					ENST00000285873.7:c.3345G>T	p.Gln1115His	p.Q1115H	ENST00000285873	NM_001252156.1	1115	caG/caT	0	validated		damaging	
ATP8B2		inserm.fr	GRCh37	1	154318345	154318345	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000368489.3:c.2863G>A	p.Gly955Arg	p.G955R	ENST00000368489	NM_020452.3	955	Ggg/Agg	0	not done		probablydamaging	
KIF4B		inserm.fr	GRCh37	5	154395704	154395704	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000435029.4:c.2285G>A	p.Arg762His	p.R762H	ENST00000435029	NM_001099293.1	762	cGc/cAc	0	validated		benign	
KAZN		inserm.fr	GRCh37	1	15441119	15441119	+	synonymous_variant	Silent	SNP	C	A	A			CHC322T																					ENST00000376030.2:c.2316C>A	p.Val772=	p.V772=	ENST00000376030	NM_201628.2	772	gtC/gtA	0	validated		synonymous	
OPRM1		inserm.fr	GRCh37	6	154414430	154414430	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000434900.2:c.1443+1823G>A		*481*	ENST00000434900	NM_001145279.2			0	not done		benign	
SHE		inserm.fr	GRCh37	1	154474230	154474230	+	synonymous_variant	Silent	SNP	G	A	A			CHC205T																					ENST00000304760.2:c.273C>T	p.Ser91=	p.S91=	ENST00000304760	NM_001010846.2	91	agC/agT	0	validated		synonymous	
SHE		inserm.fr	GRCh37	1	154474349	154474349	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM337T																					ENST00000304760.2:c.154G>T	p.Val52Leu	p.V52L	ENST00000304760	NM_001010846.2	52	Gtg/Ttg	0	validated		benign	
TDRD10		inserm.fr	GRCh37	1	154516452	154516452	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2034T																					ENST00000368480.3:c.517G>A	p.Val173Met	p.V173M	ENST00000368480		173	Gtg/Atg	0	not done		probablydamaging	
TDRD10		inserm.fr	GRCh37	1	154516525	154516525	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000368480.3:c.590G>A	p.Gly197Glu	p.G197E	ENST00000368480		197	gGg/gAg	0	not done		probablydamaging	
KIAA0922		inserm.fr	GRCh37	4	154523730	154523730	+	synonymous_variant	Silent	SNP	G	A	A			CHC1629T																					ENST00000409959.3:c.2490G>A	p.Arg830=	p.R830=	ENST00000409959	NM_001131007.1	830	cgG/cgA	0	not done		synonymous	
UBE2Q1		inserm.fr	GRCh37	1	154524278	154524278	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2052T																					ENST00000292211.4:c.1043G>T	p.Gly348Val	p.G348V	ENST00000292211	NM_017582.6	348	gGg/gTg	0	not done		probablydamaging	
ADAR		inserm.fr	GRCh37	1	154558777	154558777	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T									Valid												ENST00000368474.4:c.3082G>T	p.Gly1028Trp	p.G1028W	ENST00000368474	NM_001111.4	1028	Ggg/Tgg	0	validated		probablydamaging	
ADAR		inserm.fr	GRCh37	1	154562288	154562288	+	synonymous_variant	Silent	SNP	G	A	A			BCB111T																					ENST00000368474.4:c.2613C>T	p.Ala871=	p.A871=	ENST00000368474	NM_001111.4	871	gcC/gcT	0	validated		synonymous	
DPP6		inserm.fr	GRCh37	7	154667728	154667728	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1598T																					ENST00000377770.3:c.1996G>A	p.Gly666Ser	p.G666S	ENST00000377770		666	Ggc/Agc	0	not done		probablydamaging	
FBXW10B		inserm.fr	GRCh37	17	15468953	15468953	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1915T																					ENST00000312127.2:c.626C>T	p.Ala209Val	p.A209V	ENST00000312127		209	gCc/gTc	0	validated			
SFRP2		inserm.fr	GRCh37	4	154709968	154709968	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC796T																					ENST00000274063.4:c.20C>T	p.Ser7Leu	p.S7L	ENST00000274063	NM_003013.2	7	tCg/tTg	0	validated		benign	
CNKSR3		inserm.fr	GRCh37	6	154731568	154731568	+	splice_acceptor_variant	Splice_Site	SNP	T	A	A			BCB167T																					ENST00000607772.1:c.1280-2A>T		p.X427_splice	ENST00000607772	NM_173515.2			0	validated		damaging	
TELO2		inserm.fr	GRCh37	16	1547374	1547374	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262319.6:c.695G>A	p.Gly232Asp	p.G232D	ENST00000262319	NM_016111.3	232	gGc/gAc	0	not done		benign	
AKAP8		inserm.fr	GRCh37	19	15484809	15484809	+	synonymous_variant	Silent	SNP	G	A	A			CHC796T																					ENST00000269701.2:c.159C>T	p.Tyr53=	p.Y53=	ENST00000269701	NM_005858.3	53	taC/taT	0	validated		synonymous	
FBXL7		inserm.fr	GRCh37	5	15500813	15500813	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC889T																					ENST00000504595.1:c.28G>A	p.Gly10Ser	p.G10S	ENST00000504595	NM_012304.4	10	Ggc/Agc	0	not done		possiblydamaging	
EFNA4		inserm.fr	GRCh37	1	155039214	155039214	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000427683.2:c.122G>A	p.Arg41Gln	p.R41Q	ENST00000427683		41	cGa/cAa	0	not done		benign	
AKAP8L		inserm.fr	GRCh37	19	15512284	15512284	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1010T																					ENST00000397410.5:c.493C>T	p.Arg165Cys	p.R165C	ENST00000397410	NM_014371.2	165	Cgc/Tgc	0	not done		probablydamaging	
ZNF718		inserm.fr	GRCh37	4	155147	155147	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000510175.1:n.582G>A		*194*	ENST00000510175				0	not done		synonymous	
SCAF8		inserm.fr	GRCh37	6	155153564	155153564	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000367178.3:c.2851G>A	p.Gly951Arg	p.G951R	ENST00000367178	NM_014892.3	951	Gga/Aga	0	not done		benign	
SCAF8		inserm.fr	GRCh37	6	155154353	155154353	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000367178.3:c.3640G>A	p.Val1214Ile	p.V1214I	ENST00000367178	NM_014892.3	1214	Gtt/Att	0	not done		benign	
DCHS2		inserm.fr	GRCh37	4	155156588	155156588	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2048T																					ENST00000357232.4:c.7851G>T	p.Leu2617Phe	p.L2617F	ENST00000357232	NM_017639.3	2617	ttG/ttT	0	not done		probablydamaging	
DCHS2		inserm.fr	GRCh37	4	155157593	155157593	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000357232.4:c.6846C>T	p.Thr2282=	p.T2282=	ENST00000357232	NM_017639.3	2282	acC/acT	0	not done		synonymous	
DCHS2		inserm.fr	GRCh37	4	155157805	155157805	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1743T																					ENST00000357232.4:c.6634A>T	p.Ser2212Cys	p.S2212C	ENST00000357232	NM_017639.3	2212	Agc/Tgc	0	not done		probablydamaging	
DCHS2		inserm.fr	GRCh37	4	155157878	155157878	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000357232.4:c.6561C>T	p.Cys2187=	p.C2187=	ENST00000357232	NM_017639.3	2187	tgC/tgT	0	not done		synonymous	
DCHS2		inserm.fr	GRCh37	4	155180890	155180890	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1180T																					ENST00000357232.4:c.5231A>T	p.Glu1744Val	p.E1744V	ENST00000357232	NM_017639.3	1744	gAa/gTa	0	validated		probablydamaging	
MTX1		inserm.fr	GRCh37	1	155181999	155181999	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1774T																					ENST00000368376.3:c.760C>A	p.Leu254Ile	p.L254I	ENST00000368376	NM_002455.3	254	Ctc/Atc	0	validated		probablydamaging	
PLCH1		inserm.fr	GRCh37	3	155200052	155200052	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1756T																					ENST00000340059.7:c.3787A>T	p.Ser1263Cys	p.S1263C	ENST00000340059	NM_001130960.1	1263	Agt/Tgt	0	not done		possiblydamaging	
ENTREP3		inserm.fr	GRCh37	1	155220461	155220461	+	synonymous_variant	Silent	SNP	G	A	A			BCM375T																					ENST00000361361.2:c.1116C>T	p.Ala372=	p.A372=	ENST00000361361	NM_006589.2	372	gcC/gcT	0	validated		synonymous	
PLCH1		inserm.fr	GRCh37	3	155222416	155222416	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC1756T																					ENST00000340059.7:c.1597-1G>T		p.X533_splice	ENST00000340059	NM_001130960.1			0	validated		damaging	
DCHS2		inserm.fr	GRCh37	4	155242328	155242328	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB307T									Valid												ENST00000357232.4:c.2858G>T	p.Arg953Ile	p.R953I	ENST00000357232	NM_017639.3	953	aGa/aTa	0	validated		probablydamaging	
HCN3		inserm.fr	GRCh37	1	155247579	155247579	+	synonymous_variant	Silent	SNP	C	A	A			CHC2211T																					ENST00000368358.3:c.198C>A	p.Gly66=	p.G66=	ENST00000368358	NM_020897.2	66	ggC/ggA	0	validated		synonymous	
DCHS2		inserm.fr	GRCh37	4	155287374	155287374	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM483T									Valid												ENST00000357232.4:c.682G>T	p.Asp228Tyr	p.D228Y	ENST00000357232	NM_017639.3	228	Gac/Tac	0	validated		probablydamaging	
ASH1L		inserm.fr	GRCh37	1	155340761	155340761	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC469T									Valid												ENST00000392403.3:c.6346G>T	p.Glu2116Ter	p.E2116*	ENST00000392403	NM_018489.2	2116	Gag/Tag	0	validated		damaging	
BMX		inserm.fr	GRCh37	X	15534288	15534288	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1600T																					ENST00000357607.2:c.379G>A	p.Asp127Asn	p.D127N	ENST00000357607		127	Gac/Aac	0	not done		benign	
WIZ		inserm.fr	GRCh37	19	15535616	15535616	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC892T																					ENST00000263381.7:c.1837G>T	p.Gly613Cys	p.G613C	ENST00000263381	NM_021241.2	613	Ggc/Tgc	0	not done		probablydamaging	
DCHS2		inserm.fr	GRCh37	4	155411893	155411893	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000339452.1:c.615C>T	p.Thr205=	p.T205=	ENST00000339452	NM_001142552.1	205	acC/acT	0	not done		synonymous	
ASH1L		inserm.fr	GRCh37	1	155448570	155448570	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC917T																					ENST00000392403.3:c.4091C>T	p.Pro1364Leu	p.P1364L	ENST00000392403	NM_018489.2	1364	cCt/cTt	0	validated		probablydamaging	
ASH1L		inserm.fr	GRCh37	1	155448581	155448581	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000392403.3:c.4080G>T	p.Met1360Ile	p.M1360I	ENST00000392403	NM_018489.2	1360	atG/atT	0	not done		probablydamaging	
BMX		inserm.fr	GRCh37	X	15548143	15548143	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000357607.2:c.932G>A	p.Arg311Lys	p.R311K	ENST00000357607		311	aGa/aAa	0	not done		possiblydamaging	
FGB		inserm.fr	GRCh37	4	155487646	155487646	+	synonymous_variant	Silent	SNP	G	A	A			BCM703T																					ENST00000302068.4:c.312G>A	p.Val104=	p.V104=	ENST00000302068	NM_005141.4	104	gtG/gtA	0	validated		synonymous	
FGB		inserm.fr	GRCh37	4	155487755	155487755	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1731T																					ENST00000302068.4:c.421T>A	p.Ser141Thr	p.S141T	ENST00000302068	NM_005141.4	141	Tcc/Acc	0	not done		benign	
FGA		inserm.fr	GRCh37	4	155508694	155508694	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC794T									Valid												ENST00000302053.3:c.480A>T	p.Arg160Ser	p.R160S	ENST00000302053	NM_000508.3	160	agA/agT	0	validated		probablydamaging	
FGA		inserm.fr	GRCh37	4	155510054	155510054	+	synonymous_variant	Silent	SNP	T	A	A			CHC1591T																					ENST00000302053.3:c.255A>T	p.Ile85=	p.I85=	ENST00000302053	NM_000508.3	85	atA/atT	0	not done		synonymous	
FGA		inserm.fr	GRCh37	4	155510083	155510083	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1603T									Valid												ENST00000302053.3:c.226G>T	p.Glu76Ter	p.E76*	ENST00000302053	NM_000508.3	76	Gaa/Taa	0	validated		damaging	
FGA		inserm.fr	GRCh37	4	155510662	155510662	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC302T									Valid												ENST00000302053.3:c.107G>T	p.Gly36Val	p.G36V	ENST00000302053	NM_000508.3	36	gGc/gTc	0	validated		probablydamaging	
TIAM2		inserm.fr	GRCh37	6	155532397	155532397	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1052T																					ENST00000461783.3:c.3124C>A	p.Leu1042Met	p.L1042M	ENST00000461783		1042	Ctg/Atg	0	validated		possiblydamaging	
BMX		inserm.fr	GRCh37	X	15555316	15555316	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM723T																					ENST00000357607.2:c.1282T>A	p.Phe428Ile	p.F428I	ENST00000357607		428	Ttt/Att	0	validated		probablydamaging	
SLC33A1		inserm.fr	GRCh37	3	155571244	155571244	+	synonymous_variant	Silent	SNP	C	A	A			CHC1717T																					ENST00000392845.3:c.543G>T	p.Val181=	p.V181=	ENST00000392845		181	gtG/gtT	0	not done		synonymous	
SLC33A1		inserm.fr	GRCh37	3	155571674	155571674	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1061T																					ENST00000392845.3:c.113G>T	p.Ser38Ile	p.S38I	ENST00000392845		38	aGt/aTt	0	validated		benign	
SHH		inserm.fr	GRCh37	7	155599222	155599222	+	synonymous_variant	Silent	SNP	G	A	A			CHC1775T																					ENST00000297261.2:c.330C>T	p.Ala110=	p.A110=	ENST00000297261	NM_000193.2	110	gcC/gcT	0	validated		synonymous	
YY1AP1		inserm.fr	GRCh37	1	155646500	155646500	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC433T									Valid												ENST00000368339.5:c.577C>T	p.His193Tyr	p.H193Y	ENST00000368339	NM_001198903.1	193	Cat/Tat	0	validated		probablydamaging	
MEX3D		inserm.fr	GRCh37	19	1556735	1556735	+	synonymous_variant	Silent	SNP	G	A	A			BCM321T																					ENST00000402693.4:c.783C>T	p.Pro261=	p.P261=	ENST00000402693	NM_203304.3	261	ccC/ccT	0	validated		synonymous	
BMX		inserm.fr	GRCh37	X	15568114	15568114	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000357607.2:c.1947G>A	p.Trp649Ter	p.W649*	ENST00000357607		649	tgG/tgA	0	not done		damaging	
RBM46		inserm.fr	GRCh37	4	155720342	155720342	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM783T																					ENST00000281722.3:c.1028C>A	p.Thr343Asn	p.T343N	ENST00000281722	NM_144979.4	343	aCt/aAt	0	validated		benign	
NOX3		inserm.fr	GRCh37	6	155732450	155732450	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC805T																					ENST00000159060.2:c.1353G>T	p.Trp451Cys	p.W451C	ENST00000159060	NM_015718.2	451	tgG/tgT	0	not done		probablydamaging	
NOX3		inserm.fr	GRCh37	6	155732451	155732451	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC805T																					ENST00000159060.2:c.1352G>T	p.Trp451Leu	p.W451L	ENST00000159060	NM_015718.2	451	tGg/tTg	0	not done		probablydamaging	
NOX3		inserm.fr	GRCh37	6	155743942	155743942	+	synonymous_variant	Silent	SNP	G	A	A			BCM483T																					ENST00000159060.2:c.1194C>T	p.His398=	p.H398=	ENST00000159060	NM_015718.2	398	caC/caT	0	validated		synonymous	
NOX3		inserm.fr	GRCh37	6	155749947	155749947	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1148T																					ENST00000159060.2:c.1126G>T	p.Glu376Ter	p.E376*	ENST00000159060	NM_015718.2	376	Gag/Tag	0	not done		damaging	
LOC389602		inserm.fr	GRCh37	7	155757298	155757298	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2215T																					ENST00000377722.2:c.599G>A	p.Gly200Asp	p.G200D	ENST00000377722		200	gGc/gAc	0	not done			
PGLYRP2		inserm.fr	GRCh37	19	15580694	15580694	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2213T																					ENST00000340880.4:c.1390C>T	p.His464Tyr	p.H464Y	ENST00000340880	NM_052890.3	464	Cac/Tac	0	validated		probablydamaging	
PGLYRP2		inserm.fr	GRCh37	19	15582835	15582835	+	synonymous_variant	Silent	SNP	C	A	A			CHC1595T																					ENST00000340880.4:c.1209G>T	p.Pro403=	p.P403=	ENST00000340880	NM_052890.3	403	ccG/ccT	0	validated		synonymous	
SYT11		inserm.fr	GRCh37	1	155838368	155838368	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000368324.4:c.647G>A	p.Arg216Gln	p.R216Q	ENST00000368324	NM_152280.4	216	cGg/cAg	0	not done		possiblydamaging	
RIT1		inserm.fr	GRCh37	1	155874593	155874593	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1763T																					ENST00000368323.3:c.166G>T	p.Asp56Tyr	p.D56Y	ENST00000368323	NM_006912.5	56	Gat/Tat	0	not done		probablydamaging	
PGLYRP2		inserm.fr	GRCh37	19	15590131	15590131	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000340880.4:c.52C>T	p.Pro18Ser	p.P18S	ENST00000340880	NM_052890.3	18	Cca/Tca	0	validated		probablydamaging	
SIRPB1		inserm.fr	GRCh37	20	1559075	1559075	+	synonymous_variant	Silent	SNP	G	A	A			CHC2128T																					ENST00000381605.4:c.342C>T	p.Asp114=	p.D114=	ENST00000381605	NM_006065.3	114	gaC/gaT	0	not done		synonymous	
RBM11		inserm.fr	GRCh37	21	15591893	15591893	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000400577.3:c.106C>A	p.Leu36Ile	p.L36I	ENST00000400577	NM_144770.3	36	Cta/Ata	0	not done		possiblydamaging	
ARHGEF2		inserm.fr	GRCh37	1	155932953	155932953	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM695T																					ENST00000361247.4:c.746A>T	p.His249Leu	p.H249L	ENST00000361247	NM_001162384.1	249	cAc/cTc	0	validated		probablydamaging	
ARHGEF2		inserm.fr	GRCh37	1	155936248	155936248	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2352T																					ENST00000361247.4:c.299A>T	p.Lys100Met	p.K100M	ENST00000361247	NM_001162384.1	100	aAg/aTg	0	not done		probablydamaging	
KCNAB1		inserm.fr	GRCh37	3	156009708	156009708	+	intron_variant	Intron	SNP	C	A	A			CHC1600T																					ENST00000490337.1:c.276-129697C>A		*92*	ENST00000490337	NM_172160.2			0	not done		synonymous	
SEMA4A		inserm.fr	GRCh37	1	156130820	156130820	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC1186T																					ENST00000368285.3:c.810G>A	p.Lys270=	p.K270=	ENST00000368285	NM_001193300.1	270	aaG/aaA	0	not done		possiblydamaging	
SEMA4A		inserm.fr	GRCh37	1	156131184	156131184	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000368285.3:c.858C>A	p.Phe286Leu	p.F286L	ENST00000368285	NM_001193300.1	286	ttC/ttA	0	not done		probablydamaging	
SLC25A44		inserm.fr	GRCh37	1	156169787	156169787	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359511.4:c.149G>A	p.Gly50Glu	p.G50E	ENST00000359511	NM_014655.2	50	gGg/gAg	0	not done		possiblydamaging	
PAQR6		inserm.fr	GRCh37	1	156215630	156215630	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1754T																					ENST00000335852.1:c.10C>T	p.Arg4Cys	p.R4C	ENST00000335852	NM_024897.3	4	Cgc/Tgc	0	not done		possiblydamaging	
SMG5		inserm.fr	GRCh37	1	156252442	156252442	+	synonymous_variant	Silent	SNP	G	A	A			CHC197T																					ENST00000361813.5:c.30C>T	p.Ser10=	p.S10=	ENST00000361813	NM_015327.2	10	agC/agT	0	validated		synonymous	
FBXL5		inserm.fr	GRCh37	4	15628504	15628504	+	synonymous_variant	Silent	SNP	T	A	A			CHC121T																					ENST00000341285.3:c.1116A>T	p.Ala372=	p.A372=	ENST00000341285	NM_001193534.1	372	gcA/gcT	0	validated		synonymous	
MIB2		inserm.fr	GRCh37	1	1563722	1563722	+	synonymous_variant	Silent	SNP	G	A	A			BCM339T																					ENST00000505820.2:c.2256G>A	p.Ala752=	p.A752=	ENST00000505820		752	gcG/gcA	0	validated		synonymous	
RNF32		inserm.fr	GRCh37	7	156469153	156469153	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1035T																					ENST00000405335.1:c.893C>A	p.Ala298Asp	p.A298D	ENST00000405335		298	gCc/gAc	0	validated		possiblydamaging	
HAVCR1		inserm.fr	GRCh37	5	156479606	156479606	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC898T																					ENST00000339252.3:c.439A>T	p.Ser147Cys	p.S147C	ENST00000339252	NM_012206.2	147	Agc/Tgc	0	not done		possiblydamaging	
ITGA8		inserm.fr	GRCh37	10	15648361	15648361	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1568T																					ENST00000378076.3:c.1825G>T	p.Asp609Tyr	p.D609Y	ENST00000378076	NM_003638.1	609	Gac/Tac	0	not done		probablydamaging	
CYP4F22		inserm.fr	GRCh37	19	15648382	15648382	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000269703.3:c.458G>A	p.Ser153Asn	p.S153N	ENST00000269703	NM_173483.3	153	aGc/aAc	0	not done		benign	
IQGAP3		inserm.fr	GRCh37	1	156524161	156524161	+	synonymous_variant	Silent	SNP	G	A	A			CHC451T																					ENST00000361170.2:c.1314C>T	p.Phe438=	p.F438=	ENST00000361170	NM_178229.4	438	ttC/ttT	0	not done		synonymous	
PTPRO		inserm.fr	GRCh37	12	15654988	15654988	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000281171.4:c.1096G>A	p.Glu366Lys	p.E366K	ENST00000281171	NM_030667.2	366	Gaa/Aaa	0	not done		possiblydamaging	
GARIN3		inserm.fr	GRCh37	5	156590668	156590668	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000302938.4:c.608C>T	p.Ala203Val	p.A203V	ENST00000302938	NM_130899.2	203	gCt/gTt	0	not done		benign	
BCAN		inserm.fr	GRCh37	1	156626178	156626178	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000329117.5:c.2047G>A	p.Val683Ile	p.V683I	ENST00000329117	NM_021948.4	683	Gtt/Att	0	not done		benign	
BCAN		inserm.fr	GRCh37	1	156628861	156628861	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1028T																					ENST00000329117.5:c.2671G>A	p.Gly891Arg	p.G891R	ENST00000329117	NM_021948.4	891	Ggg/Agg	0	not done		benign	
NES		inserm.fr	GRCh37	1	156639666	156639666	+	synonymous_variant	Silent	SNP	C	A	A			BCM545T																					ENST00000368223.3:c.4314G>T	p.Gly1438=	p.G1438=	ENST00000368223	NM_006617.1	1438	ggG/ggT	0	validated		synonymous	
NES		inserm.fr	GRCh37	1	156647048	156647048	+	synonymous_variant	Silent	SNP	G	A	A			CHC909T																					ENST00000368223.3:c.9C>T	p.Gly3=	p.G3=	ENST00000368223	NM_006617.1	3	ggC/ggT	0	not done		synonymous	
CCDC171		inserm.fr	GRCh37	9	15666165	15666165	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000380701.3:c.920G>A	p.Arg307Gln	p.R307Q	ENST00000380701	NM_173550.2	307	cGg/cAg	0	not done		benign	
ITK		inserm.fr	GRCh37	5	156671456	156671456	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM739T																					ENST00000422843.3:c.1417C>A	p.Leu473Met	p.L473M	ENST00000422843	NM_005546.3	473	Ctg/Atg	0	validated		probablydamaging	
METTL25B		inserm.fr	GRCh37	1	156705540	156705540	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC258T																					ENST00000368216.4:c.1145G>A	p.Arg382Gln	p.R382Q	ENST00000368216	NM_015997.3	382	cGa/cAa	0	validated		probablydamaging	
GUCY1B3		inserm.fr	GRCh37	4	156721090	156721090	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1186T																					ENST00000264424.8:c.1039G>A	p.Asp347Asn	p.D347N	ENST00000264424	NM_000857.2	347	Gat/Aat	0	not done		probablydamaging	
CYFIP2		inserm.fr	GRCh37	5	156727773	156727773	+	synonymous_variant	Silent	SNP	C	A	A			CHC1741T																					ENST00000521420.1:c.360C>A	p.Ala120=	p.A120=	ENST00000521420		120	gcC/gcA	0	not done		synonymous	
LEKR1		inserm.fr	GRCh37	3	156745930	156745930	+	synonymous_variant	Silent	SNP	G	A	A			CHC736T																					ENST00000356539.4:c.1407G>A	p.Arg469=	p.R469=	ENST00000356539	NM_001004316.2	469	agG/agA	0	validated		synonymous	
NOM1		inserm.fr	GRCh37	7	156746833	156746833	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000275820.3:c.1149G>A	p.Gln383=	p.Q383=	ENST00000275820	NM_138400.1	383	caG/caA	0	not done		synonymous	
LEKR1		inserm.fr	GRCh37	3	156763508	156763508	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1598T																					ENST00000356539.4:c.2048C>A	p.Ala683Asp	p.A683D	ENST00000356539	NM_001004316.2	683	gCc/gAc	0	not done		possiblydamaging	
MNX1		inserm.fr	GRCh37	7	156798470	156798470	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000252971.6:c.950G>T	p.Gly317Val	p.G317V	ENST00000252971	NM_005515.3	317	gGc/gTc	0	validated		probablydamaging	
MNX1		inserm.fr	GRCh37	7	156802942	156802942	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1736T																					ENST00000252971.6:c.103G>T	p.Ala35Ser	p.A35S	ENST00000252971	NM_005515.3	35	Gcc/Tcc	0	not done		benign	
NTRK1		inserm.fr	GRCh37	1	156830783	156830783	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000524377.1:c.57G>A	p.Pro19=	p.P19=	ENST00000524377	NM_002529.3	19	ccG/ccA	0	not done		synonymous	
NTRK1		inserm.fr	GRCh37	1	156834203	156834203	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000524377.1:c.270G>A	p.Leu90=	p.L90=	ENST00000524377	NM_002529.3	90	ctG/ctA	0	not done		synonymous	
NTRK1		inserm.fr	GRCh37	1	156849036	156849036	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000524377.1:c.1928G>A	p.Gly643Asp	p.G643D	ENST00000524377	NM_002529.3	643	gGt/gAt	0	validated		possiblydamaging	
PEAR1		inserm.fr	GRCh37	1	156876633	156876633	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC429T																					ENST00000338302.3:c.605C>A	p.Thr202Asn	p.T202N	ENST00000338302		202	aCt/aAt	0	validated		benign	
PEAR1		inserm.fr	GRCh37	1	156877423	156877423	+	synonymous_variant	Silent	SNP	G	A	A			CHC1065T																					ENST00000338302.3:c.666G>A	p.Gln222=	p.Q222=	ENST00000338302		222	caG/caA	0	validated		synonymous	
ITGA8		inserm.fr	GRCh37	10	15688923	15688923	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC469T									Valid												ENST00000378076.3:c.1129C>T	p.Leu377Phe	p.L377F	ENST00000378076	NM_003638.1	377	Ctc/Ttc	0	validated		probablydamaging	
FAM200B		inserm.fr	GRCh37	4	15689691	15689691	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1595T																					ENST00000422728.2:c.1091G>A	p.Arg364Gln	p.R364Q	ENST00000422728	NM_001145191.1	364	cGg/cAg	0	validated		possiblydamaging	
ARHGEF11		inserm.fr	GRCh37	1	156913872	156913872	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1736T																					ENST00000368194.3:c.3090G>T	p.Glu1030Asp	p.E1030D	ENST00000368194	NM_198236.2	1030	gaG/gaT	0	not done		benign	
ARHGEF11		inserm.fr	GRCh37	1	156926318	156926318	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC703T																					ENST00000368194.3:c.1565A>T	p.His522Leu	p.H522L	ENST00000368194	NM_198236.2	522	cAt/cTt	0	validated		probablydamaging	
UBE3C		inserm.fr	GRCh37	7	156967650	156967650	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1629T																					ENST00000348165.5:c.380T>A	p.Leu127Gln	p.L127Q	ENST00000348165	NM_014671.2	127	cTg/cAg	0	not done		benign	
ETV3L		inserm.fr	GRCh37	1	157069171	157069171	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC917T																					ENST00000454449.2:c.59-1G>T		p.X20_splice	ENST00000454449	NM_001004341.2			0	validated		damaging	
VEPH1		inserm.fr	GRCh37	3	157081410	157081410	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2206T																					ENST00000362010.2:c.1478C>T	p.Pro493Leu	p.P493L	ENST00000362010	NM_001167912.1	493	cCg/cTg	0	not done		benign	
PTX3		inserm.fr	GRCh37	3	157155611	157155611	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM783T																					ENST00000295927.3:c.440G>A	p.Arg147His	p.R147H	ENST00000295927	NM_002852.3	147	cGc/cAc	0	validated		benign	
PTX3		inserm.fr	GRCh37	3	157160579	157160579	+	synonymous_variant	Silent	SNP	G	A	A			BCM397T																					ENST00000295927.3:c.957G>A	p.Val319=	p.V319=	ENST00000295927	NM_002852.3	319	gtG/gtA	0	validated		synonymous	
DNAJB6		inserm.fr	GRCh37	7	157175000	157175000	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262177.4:c.407G>A	p.Gly136Glu	p.G136E	ENST00000262177	NM_058246.3	136	gGg/gAg	0	not done		probablydamaging	
VEPH1		inserm.fr	GRCh37	3	157188171	157188171	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000362010.2:c.286C>T	p.Pro96Ser	p.P96S	ENST00000362010	NM_001167912.1	96	Ccc/Tcc	0	not done		benign	
DNAJB6		inserm.fr	GRCh37	7	157202503	157202503	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1738T																					ENST00000262177.4:c.706G>A	p.Asp236Asn	p.D236N	ENST00000262177	NM_058246.3	236	Gat/Aat	0	not done		benign	
CLINT1		inserm.fr	GRCh37	5	157233096	157233096	+	synonymous_variant	Silent	SNP	C	A	A			BCM723T																					ENST00000523908.1:c.720G>T	p.Ala240=	p.A240=	ENST00000523908		240	gcG/gcT	0	validated		synonymous	
KIAA0430		inserm.fr	GRCh37	16	15729810	15729810	+	synonymous_variant	Silent	SNP	G	A	A			CHC1712T																					ENST00000396368.3:c.534C>T	p.Ser178=	p.S178=	ENST00000396368	NM_001184998.1	178	agC/agT	0	not done		synonymous	
CYP4F8		inserm.fr	GRCh37	19	15733113	15733113	+	intron_variant,non_coding_transcript_variant	Intron	SNP	C	A	A			CHC1137T																					ENST00000589787.1:n.2357-802C>A		*786*	ENST00000589787				0	not done		probablydamaging	
PTPRO		inserm.fr	GRCh37	12	15733676	15733676	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000281171.4:c.3043C>A	p.Pro1015Thr	p.P1015T	ENST00000281171	NM_030667.2	1015	Cct/Act	0	not done		probablydamaging	
CYP4F8		inserm.fr	GRCh37	19	15733953	15733953	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000589787.1:n.2395G>A		*799*	ENST00000589787				0	not done		probablydamaging	
GPD2		inserm.fr	GRCh37	2	157425924	157425924	+	synonymous_variant	Silent	SNP	T	A	A			CHC1712T																					ENST00000310454.6:c.1350T>A	p.Ala450=	p.A450=	ENST00000310454	NM_001083112.2	450	gcT/gcA	0	not done		synonymous	
HSPA13		inserm.fr	GRCh37	21	15746084	15746084	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC805T																					ENST00000285667.3:c.1270A>T	p.Lys424Ter	p.K424*	ENST00000285667	NM_006948.4	424	Aaa/Taa	0	not done		damaging	
ARID1B		inserm.fr	GRCh37	6	157469819	157469819	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000346085.5:c.2613G>A	p.Gly871=	p.G871=	ENST00000346085	NM_020732.3	871	ggG/ggA	0	not done		synonymous	
FCRL5		inserm.fr	GRCh37	1	157490294	157490294	+	synonymous_variant	Silent	SNP	G	A	A			CHC121T																					ENST00000361835.3:c.2559C>T	p.Ala853=	p.A853=	ENST00000361835	NM_001195388.1	853	gcC/gcT	0	validated		synonymous	
ARID1B		inserm.fr	GRCh37	6	157502306	157502306	+	synonymous_variant	Silent	SNP	G	A	A			CHC2048T																					ENST00000346085.5:c.3339G>A	p.Leu1113=	p.L1113=	ENST00000346085	NM_020732.3	1113	ttG/ttA	0	not done		synonymous	
ARID1B		inserm.fr	GRCh37	6	157522035	157522035	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000346085.5:c.4307G>A	p.Gly1436Glu	p.G1436E	ENST00000346085	NM_020732.3	1436	gGg/gAg	0	not done		possiblydamaging	
ARID1B		inserm.fr	GRCh37	6	157528374	157528374	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000346085.5:c.6099G>A	p.Gly2033=	p.G2033=	ENST00000346085	NM_020732.3	2033	ggG/ggA	0	not done		synonymous	
ARID1B		inserm.fr	GRCh37	6	157528913	157528913	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM545T																					ENST00000346085.5:c.6638C>A	p.Ser2213Ter	p.S2213*	ENST00000346085	NM_020732.3	2213	tCg/tAg	0	validated		damaging	
FCRL4		inserm.fr	GRCh37	1	157559041	157559041	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000271532.1:c.260C>T	p.Ala87Val	p.A87V	ENST00000271532	NM_031282.2	87	gCc/gTc	0	not done		benign	
FCRL3		inserm.fr	GRCh37	1	157660188	157660188	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000368184.3:c.1547C>T	p.Thr516Ile	p.T516I	ENST00000368184	NM_052939.3	516	aCc/aTc	0	not done		possiblydamaging	
FCRL3		inserm.fr	GRCh37	1	157665232	157665232	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1604T																					ENST00000368184.3:c.1298G>T	p.Gly433Val	p.G433V	ENST00000368184	NM_052939.3	433	gGa/gTa	0	not done		probablydamaging	
FCRL3		inserm.fr	GRCh37	1	157667615	157667615	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1741T																					ENST00000368184.3:c.393G>T	p.Lys131Asn	p.K131N	ENST00000368184	NM_052939.3	131	aaG/aaT	0	not done		benign	
FCRL2		inserm.fr	GRCh37	1	157737082	157737082	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000361516.3:c.1101C>T	p.Ser367=	p.S367=	ENST00000361516	NM_030764.3	367	tcC/tcT	0	not done		synonymous	
SHOX2		inserm.fr	GRCh37	3	157817738	157817738	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC1053T									Valid												ENST00000389589.4:c.686-1G>T		p.X229_splice	ENST00000389589	NM_003030.4			0	validated		damaging	
SHOX2		inserm.fr	GRCh37	3	157823637	157823637	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000389589.4:c.177C>T	p.Ala59=	p.A59=	ENST00000389589	NM_003030.4	59	gcC/gcT	0	not done		synonymous	
RSRC1		inserm.fr	GRCh37	3	157839918	157839918	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2115T																					ENST00000295930.3:c.25G>A	p.Glu9Lys	p.E9K	ENST00000295930	NM_016625.3	9	Gaa/Aaa	0	not done		possiblydamaging	
CELA2A		inserm.fr	GRCh37	1	15789260	15789260	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000359621.4:c.260G>A	p.Arg87Gln	p.R87Q	ENST00000359621	NM_033440.2	87	cGg/cAg	0	validated		benign	
RSRC1		inserm.fr	GRCh37	3	157921006	157921006	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1602T																					ENST00000295930.3:c.466G>A	p.Asp156Asn	p.D156N	ENST00000295930	NM_016625.3	156	Gac/Aac	0	not done		possiblydamaging	
CA5B		inserm.fr	GRCh37	X	15794866	15794866	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1137T																					ENST00000318636.3:c.648C>A	p.Asp216Glu	p.D216E	ENST00000318636	NM_007220.3	216	gaC/gaA	0	not done		benign	
KIRREL		inserm.fr	GRCh37	1	158046038	158046038	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359209.6:c.188G>A	p.Gly63Asp	p.G63D	ENST00000359209		63	gGc/gAc	0	not done		possiblydamaging	
PTPRN2		inserm.fr	GRCh37	7	158109612	158109612	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM257T																					ENST00000389418.4:c.176G>T	p.Gly59Val	p.G59V	ENST00000389418	NM_002847.3	59	gGa/gTa	0	validated		probablydamaging	
CD1D		inserm.fr	GRCh37	1	158151250	158151250	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000368171.3:c.67C>A	p.Gln23Lys	p.Q23K	ENST00000368171	NM_001766.3	23	Caa/Aaa	0	not done		possiblydamaging	
CASP9		inserm.fr	GRCh37	1	15820444	15820444	+	synonymous_variant	Silent	SNP	C	A	A			CHC793T																					ENST00000333868.5:c.1101G>T	p.Leu367=	p.L367=	ENST00000333868		367	ctG/ctT	0	validated		synonymous	
GRIA2		inserm.fr	GRCh37	4	158242707	158242707	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1035T									Valid												ENST00000296526.7:c.838C>A	p.Leu280Met	p.L280M	ENST00000296526	NM_000826.3	280	Ctg/Atg	0	validated		probablydamaging	
PTPRN2		inserm.fr	GRCh37	7	158282438	158282438	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC912T																					ENST00000389418.4:c.152C>T	p.Ala51Val	p.A51V	ENST00000389418	NM_002847.3	51	gCc/gTc	0	validated		benign	
PTPRN2		inserm.fr	GRCh37	7	158282439	158282439	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC912T																					ENST00000389418.4:c.151G>T	p.Ala51Ser	p.A51S	ENST00000389418	NM_002847.3	51	Gcc/Tcc	0	validated		benign	
CYTIP		inserm.fr	GRCh37	2	158283871	158283871	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC469T																					ENST00000264192.3:c.538G>T	p.Val180Phe	p.V180F	ENST00000264192	NM_004288.4	180	Gtt/Ttt	0	validated		benign	
CD1B		inserm.fr	GRCh37	1	158299696	158299696	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1629T																					ENST00000368168.3:c.553C>T	p.Pro185Ser	p.P185S	ENST00000368168	NM_001764.2	185	Ccc/Tcc	0	not done		probablydamaging	
SNX9		inserm.fr	GRCh37	6	158317935	158317935	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000392185.3:c.377G>A	p.Gly126Glu	p.G126E	ENST00000392185	NM_016224.4	126	gGg/gAg	0	not done		possiblydamaging	
MYH11		inserm.fr	GRCh37	16	15832479	15832479	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1746T																					ENST00000396324.3:c.3085G>T	p.Ala1029Ser	p.A1029S	ENST00000396324	NM_001040114.1	1029	Gcc/Tcc	0	not done		benign	
CASP9		inserm.fr	GRCh37	1	15834383	15834383	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2103T																					ENST00000333868.5:c.438G>T	p.Arg146Ser	p.R146S	ENST00000333868		146	agG/agT	0	not done		benign	
CD38		inserm.fr	GRCh37	4	15835913	15835913	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000226279.3:c.573G>A	p.Thr191=	p.T191=	ENST00000226279	NM_001775.2	191	acG/acA	0	not done		synonymous	
FAM188A		inserm.fr	GRCh37	10	15838146	15838146	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1028T																					ENST00000277632.3:c.908C>T	p.Ala303Val	p.A303V	ENST00000277632	NM_024948.2	303	gCt/gTt	0	not done		benign	
OR10K2		inserm.fr	GRCh37	1	158390073	158390073	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM337T																					ENST00000314902.2:c.584G>T	p.Ser195Ile	p.S195I	ENST00000314902	NM_001004476.1	195	aGt/aTt	0	validated		benign	
OR10H2		inserm.fr	GRCh37	19	15839269	15839269	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC205T																					ENST00000305899.3:c.416G>A	p.Arg139Gln	p.R139Q	ENST00000305899	NM_013939.2	139	cGg/cAg	0	validated		benign	
ACVR1C		inserm.fr	GRCh37	2	158412680	158412680	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1061T									Valid												ENST00000243349.8:c.469G>T	p.Glu157Ter	p.E157*	ENST00000243349	NM_001111032.1	157	Gag/Tag	0	validated		damaging	
NCAPG2		inserm.fr	GRCh37	7	158437057	158437057	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1053T									Valid												ENST00000409423.1:c.3304A>T	p.Arg1102Trp	p.R1102W	ENST00000409423	NM_001281932.1	1102	Agg/Tgg	0	validated		probablydamaging	
SYNJ2		inserm.fr	GRCh37	6	158438301	158438301	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000355585.4:c.193G>A	p.Gly65Arg	p.G65R	ENST00000355585	NM_001178088.1	65	Ggg/Agg	0	not done		probablydamaging	
OR6P1		inserm.fr	GRCh37	1	158533307	158533307	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000334632.1:c.88C>T	p.Leu30Phe	p.L30F	ENST00000334632	NM_001160325.1	30	Ctt/Ttt	0	validated		benign	
MFSD1		inserm.fr	GRCh37	3	158539871	158539871	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000415822.2:c.1166C>A	p.Ala389Asp	p.A389D	ENST00000415822	NM_022736.2	389	gCc/gAc	0	not done		possiblydamaging	
SPTA1		inserm.fr	GRCh37	1	158617334	158617334	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1604T																					ENST00000368147.4:c.3891G>T	p.Lys1297Asn	p.K1297N	ENST00000368147	NM_003126.2	1297	aaG/aaT	0	not done		probablydamaging	
ESYT2		inserm.fr	GRCh37	7	158621814	158621814	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000251527.5:c.440G>T	p.Arg147Leu	p.R147L	ENST00000251527	NM_020728.2	147	cGc/cTc	0	not done		possiblydamaging	
SPTA1		inserm.fr	GRCh37	1	158627382	158627382	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC320T									Valid												ENST00000368147.4:c.2690C>T	p.Ala897Val	p.A897V	ENST00000368147	NM_003126.2	897	gCc/gTc	0	validated		possiblydamaging	
MYH11		inserm.fr	GRCh37	16	15865464	15865464	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T									Valid												ENST00000396324.3:c.1016C>T	p.Ala339Val	p.A339V	ENST00000396324	NM_001040114.1	339	gCc/gTc	0	validated		probablydamaging	
TMEM184A		inserm.fr	GRCh37	7	1586618	1586618	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1060T																					ENST00000297477.5:c.1212G>T	p.Lys404Asn	p.K404N	ENST00000297477	NM_001097620.1	404	aaG/aaT	0	validated		probablydamaging	
OR6K2		inserm.fr	GRCh37	1	158669487	158669487	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359610.2:c.956C>T	p.Thr319Ile	p.T319I	ENST00000359610	NM_001005279.1	319	aCc/aTc	0	not done		benign	
OR6K2		inserm.fr	GRCh37	1	158669981	158669981	+	synonymous_variant	Silent	SNP	T	A	A			BCB307T																					ENST00000359610.2:c.462A>T	p.Thr154=	p.T154=	ENST00000359610	NM_001005279.1	154	acA/acT	0	validated		synonymous	
OR6K2		inserm.fr	GRCh37	1	158670208	158670208	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM269T									Valid												ENST00000359610.2:c.235C>T	p.Pro79Ser	p.P79S	ENST00000359610	NM_001005279.1	79	Cca/Tca	0	validated		probablydamaging	
WDR60		inserm.fr	GRCh37	7	158694496	158694496	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC796T																					ENST00000407559.3:c.1126G>A	p.Asp376Asn	p.D376N	ENST00000407559	NM_018051.4	376	Gat/Aat	0	validated		probablydamaging	
DNAJC16		inserm.fr	GRCh37	1	15870908	15870908	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2098T																					ENST00000375847.3:c.589G>A	p.Val197Met	p.V197M	ENST00000375847	NM_015291.2	197	Gtg/Atg	0	not done		probablydamaging	
UBLCP1		inserm.fr	GRCh37	5	158710225	158710225	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000296786.6:c.807G>A	p.Arg269=	p.R269=	ENST00000296786	NM_145049.3	269	agG/agA	0	not done		synonymous	
WDR60		inserm.fr	GRCh37	7	158716388	158716388	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000407559.3:c.2221G>A	p.Gly741Ser	p.G741S	ENST00000407559	NM_018051.4	741	Ggc/Agc	0	not done		benign	
OR6K6		inserm.fr	GRCh37	1	158725311	158725311	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000368144.2:c.706G>A	p.Ala236Thr	p.A236T	ENST00000368144	NM_001005184.1	236	Gcc/Acc	0	not done		benign	
OR6N1		inserm.fr	GRCh37	1	158736262	158736262	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000335094.2:c.211C>T	p.Leu71Phe	p.L71F	ENST00000335094	NM_001005185.1	71	Ctt/Ttt	0	not done		probablydamaging	
OR6N2		inserm.fr	GRCh37	1	158746951	158746951	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC909T																					ENST00000339258.1:c.475G>T	p.Glu159Ter	p.E159*	ENST00000339258	NM_001005278.1	159	Gag/Tag	0	not done		damaging	
OR6N2		inserm.fr	GRCh37	1	158747338	158747338	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000339258.1:c.88C>T	p.Leu30=	p.L30=	ENST00000339258	NM_001005278.1	30	Ctg/Ttg	0	not done		synonymous	
VIPR2		inserm.fr	GRCh37	7	158829503	158829503	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262178.2:c.688C>T	p.Leu230Phe	p.L230F	ENST00000262178	NM_003382.4	230	Ctc/Ttc	0	not done		probablydamaging	
TULP4		inserm.fr	GRCh37	6	158873244	158873244	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000367097.3:c.803G>A	p.Ser268Asn	p.S268N	ENST00000367097	NM_020245.4	268	aGc/aAc	0	not done		benign	
TULP4		inserm.fr	GRCh37	6	158882633	158882633	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000367097.3:c.898G>A	p.Ala300Thr	p.A300T	ENST00000367097	NM_020245.4	300	Gca/Aca	0	not done		probablydamaging	
VIPR2		inserm.fr	GRCh37	7	158896521	158896521	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1708T																					ENST00000262178.2:c.284G>T	p.Ser95Ile	p.S95I	ENST00000262178	NM_003382.4	95	aGt/aTt	0	not done		possiblydamaging	
PYHIN1		inserm.fr	GRCh37	1	158906793	158906793	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC703T																					ENST00000368140.1:c.93C>A	p.Asn31Lys	p.N31K	ENST00000368140	NM_152501.4	31	aaC/aaA	0	validated		benign	
PYHIN1		inserm.fr	GRCh37	1	158911875	158911875	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1725T																					ENST00000368140.1:c.688T>A	p.Ser230Thr	p.S230T	ENST00000368140	NM_152501.4	230	Tcc/Acc	0	not done		benign	
PYHIN1		inserm.fr	GRCh37	1	158913637	158913637	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1055T																					ENST00000368140.1:c.1060G>A	p.Ala354Thr	p.A354T	ENST00000368140	NM_152501.4	354	Gct/Act	0	validated		benign	
TULP4		inserm.fr	GRCh37	6	158924562	158924562	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000367097.3:c.3867G>A	p.Lys1289=	p.K1289=	ENST00000367097	NM_020245.4	1289	aaG/aaA	0	not done		synonymous	
VIPR2		inserm.fr	GRCh37	7	158935168	158935168	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262178.2:c.121C>T	p.Leu41Phe	p.L41F	ENST00000262178	NM_003382.4	41	Ctt/Ttt	0	not done		benign	
IFI16		inserm.fr	GRCh37	1	158985671	158985671	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1191T																					ENST00000368131.4:c.275C>A	p.Pro92Gln	p.P92Q	ENST00000368131	NM_005531.2	92	cCa/cAa	0	not done		benign	
IFI16		inserm.fr	GRCh37	1	158986434	158986434	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1725T																					ENST00000368131.4:c.493C>A	p.Arg165Ser	p.R165S	ENST00000368131	NM_005531.2	165	Cgt/Agt	0	not done		benign	
TTC19		inserm.fr	GRCh37	17	15902816	15902816	+	5_prime_UTR_variant	5'UTR	SNP	C	A	A			CHC361TA																					ENST00000261647.5:c.-347C>A		*116*	ENST00000261647	NM_001271420.1			0	validated			
TMEM181		inserm.fr	GRCh37	6	159046207	159046207	+	synonymous_variant	Silent	SNP	G	A	A			BCM423T																					ENST00000367090.3:c.1437G>A	p.Ala479=	p.A479=	ENST00000367090	NM_020823.1	479	gcG/gcA	0	validated		synonymous	
OR10H5		inserm.fr	GRCh37	19	15905528	15905528	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000308940.8:c.670G>A	p.Ala224Thr	p.A224T	ENST00000308940	NM_001004466.1	224	Gcc/Acc	0	not done		benign	
AGMAT		inserm.fr	GRCh37	1	15911418	15911418	+	synonymous_variant	Silent	SNP	G	A	A			CHC2127T																					ENST00000375826.3:c.45C>T	p.Pro15=	p.P15=	ENST00000375826	NM_024758.4	15	ccC/ccT	0	validated		synonymous	
CADM3		inserm.fr	GRCh37	1	159141571	159141571	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000368124.4:c.16G>A	p.Ala6Thr	p.A6T	ENST00000368124	NM_021189.3	6	Gcc/Acc	0	not done		probablydamaging	
SYTL3		inserm.fr	GRCh37	6	159166676	159166676	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000297239.9:c.1020G>A	p.Lys340=	p.K340=	ENST00000297239		340	aaG/aaA	0	not done		synonymous	
DARC		inserm.fr	GRCh37	1	159175256	159175256	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000368121.2:c.33G>A	p.Glu11=	p.E11=	ENST00000368121	NM_001122951.2	11	gaG/gaA	0	not done		synonymous	
DARC		inserm.fr	GRCh37	1	159175991	159175991	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000368121.2:c.768G>A	p.Trp256Ter	p.W256*	ENST00000368121	NM_001122951.2	256	tgG/tgA	0	not done		damaging	
OR10J3		inserm.fr	GRCh37	1	159284221	159284221	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2215T																					ENST00000332217.5:c.229G>T	p.Ala77Ser	p.A77S	ENST00000332217	NM_001004467.1	77	Gcc/Tcc	0	not done		benign	
FBXL7		inserm.fr	GRCh37	5	15936972	15936972	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000504595.1:c.1153G>A	p.Gly385Ser	p.G385S	ENST00000504595	NM_012304.4	385	Ggc/Agc	0	not done		probablydamaging	
FGFBP1		inserm.fr	GRCh37	4	15937894	15937894	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC614T									Valid												ENST00000382333.1:c.362G>T	p.Arg121Leu	p.R121L	ENST00000382333	NM_005130.4	121	cGc/cTc	0	validated		probablydamaging	
FGFBP1		inserm.fr	GRCh37	4	15938214	15938214	+	synonymous_variant	Silent	SNP	C	A	A			CHC805T																					ENST00000382333.1:c.42G>T	p.Leu14=	p.L14=	ENST00000382333	NM_005130.4	14	ctG/ctT	0	not done		synonymous	
RXFP1		inserm.fr	GRCh37	4	159493988	159493988	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000307765.5:c.187+1G>A		p.X63_splice	ENST00000307765	NM_001253728.1			0	not done		damaging	
PWWP2A		inserm.fr	GRCh37	5	159520945	159520945	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC051T																					ENST00000307063.7:c.712G>T	p.Ala238Ser	p.A238S	ENST00000307063	NM_001130864.1	238	Gct/Tct	0	validated		benign	
FNDC1		inserm.fr	GRCh37	6	159636039	159636039	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM337T																					ENST00000297267.9:c.523G>A	p.Val175Ile	p.V175I	ENST00000297267	NM_032532.2	175	Gtt/Att	0	validated		benign	
FNDC1		inserm.fr	GRCh37	6	159647600	159647600	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000297267.9:c.1168G>A	p.Gly390Arg	p.G390R	ENST00000297267	NM_032532.2	390	Ggg/Agg	0	not done		probablydamaging	
FNIP2		inserm.fr	GRCh37	4	159780351	159780351	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC303T									Valid												ENST00000264433.6:c.1000T>A	p.Phe334Ile	p.F334I	ENST00000264433	NM_020840.1	334	Ttt/Att	0	validated		probablydamaging	
FNIP2		inserm.fr	GRCh37	4	159789677	159789677	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000264433.6:c.1889G>A	p.Ser630Asn	p.S630N	ENST00000264433	NM_020840.1	630	aGc/aAc	0	not done		benign	
SLAMF8		inserm.fr	GRCh37	1	159799705	159799705	+	synonymous_variant	Silent	SNP	G	A	A			CHC304T																					ENST00000289707.5:c.90G>A	p.Gly30=	p.G30=	ENST00000289707	NM_020125.2	30	ggG/ggA	0	validated		synonymous	
SLAMF8		inserm.fr	GRCh37	1	159805013	159805013	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1534T																					ENST00000289707.5:c.821C>A	p.Pro274Gln	p.P274Q	ENST00000289707	NM_020125.2	274	cCa/cAa	0	validated		benign	
C5orf54		inserm.fr	GRCh37	5	159822018	159822018	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC793T																					ENST00000408953.3:c.480A>T	p.Gln160His	p.Q160H	ENST00000408953	NM_022090.3	160	caA/caT	0	validated		probablydamaging	
VSIG8		inserm.fr	GRCh37	1	159824715	159824715	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000368100.1:c.1073G>T	p.Arg358Leu	p.R358L	ENST00000368100	NM_001013661.1	358	cGc/cTc	0	not done		probablydamaging	
CCDC19		inserm.fr	GRCh37	1	159842812	159842812	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1700T																					ENST00000368099.4:c.1499G>T	p.Gly500Val	p.G500V	ENST00000368099	NM_012337.2	500	gGc/gTc	0	not done		probablydamaging	
CCDC19		inserm.fr	GRCh37	1	159858265	159858265	+	synonymous_variant	Silent	SNP	G	A	A			CHC805T																					ENST00000368099.4:c.294C>T	p.Ser98=	p.S98=	ENST00000368099	NM_012337.2	98	tcC/tcT	0	not done		synonymous	
RSC1A1		inserm.fr	GRCh37	1	15987525	15987525	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000345034.1:c.1162G>A	p.Gly388Ser	p.G388S	ENST00000345034	NM_006511.1	388	Ggc/Agc	0	not done		benign	
ATP10B		inserm.fr	GRCh37	5	159992672	159992672	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC889T																					ENST00000327245.5:c.4174C>T	p.His1392Tyr	p.H1392Y	ENST00000327245	NM_025153.2	1392	Cat/Tat	0	not done		benign	
PIGM		inserm.fr	GRCh37	1	160000971	160000971	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1137T																					ENST00000368090.2:c.559A>T	p.Ile187Phe	p.I187F	ENST00000368090	NM_145167.2	187	Atc/Ttc	0	validated		possiblydamaging	
TANC1		inserm.fr	GRCh37	2	160019833	160019833	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000263635.6:c.722G>A	p.Gly241Asp	p.G241D	ENST00000263635	NM_033394.2	241	gGc/gAc	0	not done		probablydamaging	
TANC1		inserm.fr	GRCh37	2	160035475	160035475	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2052T																					ENST00000263635.6:c.2311G>A	p.Glu771Lys	p.E771K	ENST00000263635	NM_033394.2	771	Gag/Aag	0	not done		possiblydamaging	
ATP10B		inserm.fr	GRCh37	5	160047869	160047869	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T									Valid												ENST00000327245.5:c.1901G>T	p.Ser634Ile	p.S634I	ENST00000327245	NM_025153.2	634	aGc/aTc	0	validated		probablydamaging	
ATP10B		inserm.fr	GRCh37	5	160061403	160061403	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC301T									Valid												ENST00000327245.5:c.1339C>T	p.Arg447Cys	p.R447C	ENST00000327245	NM_025153.2	447	Cgt/Tgt	0	validated		probablydamaging	
IGSF8		inserm.fr	GRCh37	1	160065001	160065001	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1751T																					ENST00000368086.1:c.100G>T	p.Glu34Ter	p.E34*	ENST00000368086		34	Gag/Tag	0	not done		damaging	
ATP10B		inserm.fr	GRCh37	5	160071252	160071252	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC1209T																					ENST00000327245.5:c.762-1G>T		p.X254_splice	ENST00000327245	NM_025153.2			0	not done		possiblydamaging	
TANC1		inserm.fr	GRCh37	2	160084352	160084352	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1191T																					ENST00000263635.6:c.3926C>A	p.Ala1309Asp	p.A1309D	ENST00000263635	NM_033394.2	1309	gCc/gAc	0	not done		benign	
ATP1A2		inserm.fr	GRCh37	1	160090981	160090981	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC2208T																					ENST00000361216.3:c.118-1G>A		p.X40_splice	ENST00000361216	NM_000702.3			0	not done		damaging	
ATP1A2		inserm.fr	GRCh37	1	160093801	160093801	+	synonymous_variant	Silent	SNP	C	A	A			CHC1708T																					ENST00000361216.3:c.450C>A	p.Ala150=	p.A150=	ENST00000361216	NM_000702.3	150	gcC/gcA	0	not done		synonymous	
ATP10B		inserm.fr	GRCh37	5	160097628	160097628	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC2208T																					ENST00000327245.5:c.517G>T	p.Gly173Ter	p.G173*	ENST00000327245	NM_025153.2	173	Gga/Tga	0	not done		damaging	
ATP1A2		inserm.fr	GRCh37	1	160109715	160109715	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC304T									Valid												ENST00000361216.3:c.2975G>A	p.Ser992Asn	p.S992N	ENST00000361216	NM_000702.3	992	aGc/aAc	0	validated		possiblydamaging	
ATP10B		inserm.fr	GRCh37	5	160114894	160114894	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2141T																					ENST00000327245.5:c.188C>T	p.Ser63Phe	p.S63F	ENST00000327245	NM_025153.2	63	tCc/tTc	0	not done		benign	
ATP10B		inserm.fr	GRCh37	5	160114905	160114905	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM683T																					ENST00000327245.5:c.177G>T	p.Trp59Cys	p.W59C	ENST00000327245	NM_025153.2	59	tgG/tgT	0	validated		probablydamaging	
ATP1A4		inserm.fr	GRCh37	1	160136383	160136383	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000368081.4:c.1113G>A	p.Ala371=	p.A371=	ENST00000368081	NM_144699.3	371	gcG/gcA	0	validated		synonymous	
TRIM59		inserm.fr	GRCh37	3	160156049	160156049	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB167T																					ENST00000309784.4:c.923C>T	p.Ser308Phe	p.S308F	ENST00000309784	NM_173084.2	308	tCt/tTt	0	validated		probablydamaging	
PROM1		inserm.fr	GRCh37	4	16020142	16020142	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2321T																					ENST00000510224.1:c.806C>T	p.Ala269Val	p.A269V	ENST00000510224		269	gCg/gTg	0	validated		probablydamaging	
PNLDC1		inserm.fr	GRCh37	6	160239597	160239597	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000610273.1:c.1135G>A	p.Val379Met	p.V379M	ENST00000610273	NM_173516.2	379	Gtg/Atg	0	not done		benign	
CYP4F11		inserm.fr	GRCh37	19	16024665	16024665	+	synonymous_variant	Silent	SNP	G	A	A			CHC361TA																					ENST00000402119.4:c.1452C>T	p.Leu484=	p.L484=	ENST00000402119	NM_021187.3	484	ctC/ctT	0	validated		synonymous	
NCSTN		inserm.fr	GRCh37	1	160319348	160319348	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC796T																					ENST00000294785.5:c.324G>A	p.Met108Ile	p.M108I	ENST00000294785	NM_015331.2	108	atG/atA	0	validated		probablydamaging	
MSR1		inserm.fr	GRCh37	8	16032736	16032736	+	synonymous_variant	Silent	SNP	G	A	A			CHC1757T																					ENST00000262101.5:c.177C>T	p.Leu59=	p.L59=	ENST00000262101		59	ctC/ctT	0	not done		synonymous	
MAS1		inserm.fr	GRCh37	6	160327995	160327995	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000252660.4:c.8G>A	p.Gly3Glu	p.G3E	ENST00000252660	NM_002377.2	3	gGg/gAg	0	not done		benign	
PROM1		inserm.fr	GRCh37	4	16034950	16034950	+	synonymous_variant	Silent	SNP	C	A	A			CHC1148T																					ENST00000510224.1:c.486G>T	p.Leu162=	p.L162=	ENST00000510224		162	ctG/ctT	0	not done		synonymous	
VANGL2		inserm.fr	GRCh37	1	160394004	160394004	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000368061.2:c.1236G>A	p.Gln412=	p.Q412=	ENST00000368061	NM_020335.2	412	caG/caA	0	not done		synonymous	
IGF2R		inserm.fr	GRCh37	6	160469546	160469546	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000356956.1:c.2485G>A	p.Ala829Thr	p.A829T	ENST00000356956	NM_000876.2	829	Gct/Act	0	not done		possiblydamaging	
IGF2R		inserm.fr	GRCh37	6	160494324	160494324	+	synonymous_variant	Silent	SNP	G	A	A			CHC1205T																					ENST00000356956.1:c.4770G>A	p.Leu1590=	p.L1590=	ENST00000356956	NM_000876.2	1590	ctG/ctA	0	not done		synonymous	
CD84		inserm.fr	GRCh37	1	160523882	160523882	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000311224.4:c.443C>T	p.Thr148Ile	p.T148I	ENST00000311224	NM_001184879.1	148	aCc/aTc	0	not done		probablydamaging	
CD48		inserm.fr	GRCh37	1	160650995	160650995	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000368046.3:c.649C>T	p.Leu217=	p.L217=	ENST00000368046	NM_001778.3	217	Ctg/Ttg	0	not done		synonymous	
LY75		inserm.fr	GRCh37	2	160667144	160667144	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000504764.1:c.4592C>T	p.Ala1531Val	p.A1531V	ENST00000504764	NM_001198759.1	1531	gCa/gTa	0	validated		benign	
LY75		inserm.fr	GRCh37	2	160690572	160690572	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1603T																					ENST00000504764.1:c.3824C>T	p.Thr1275Ile	p.T1275I	ENST00000504764	NM_001198759.1	1275	aCt/aTt	0	not done		benign	
GABRB2		inserm.fr	GRCh37	5	160721353	160721353	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB301T																					ENST00000274547.2:c.1274G>T	p.Gly425Val	p.G425V	ENST00000274547	NM_000813.2	425	gGa/gTa	0	validated		probablydamaging	
GABRB2		inserm.fr	GRCh37	5	160721430	160721430	+	synonymous_variant	Silent	SNP	G	A	A			BCB325T																					ENST00000274547.2:c.1197C>T	p.Asp399=	p.D399=	ENST00000274547	NM_000813.2	399	gaC/gaT	0	validated		synonymous	
LY9		inserm.fr	GRCh37	1	160771693	160771693	+	intron_variant	Intron	SNP	G	A	A			CHC1700T																					ENST00000263285.6:c.454+1821G>A		*152*	ENST00000263285				0	not done			
CD244		inserm.fr	GRCh37	1	160811260	160811260	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000368033.3:c.410C>T	p.Pro137Leu	p.P137L	ENST00000368033		137	cCc/cTc	0	not done		probablydamaging	
PLA2R1		inserm.fr	GRCh37	2	160826668	160826668	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1629T																					ENST00000283243.7:c.2651A>T	p.Asp884Val	p.D884V	ENST00000283243	NM_001195641.1	884	gAt/gTt	0	not done		possiblydamaging	
PLA2R1		inserm.fr	GRCh37	2	160843724	160843724	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000283243.7:c.1980C>T	p.Pro660=	p.P660=	ENST00000283243	NM_001195641.1	660	ccC/ccT	0	not done		synonymous	
GABRB2		inserm.fr	GRCh37	5	160886741	160886741	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC320T									Valid												ENST00000274547.2:c.347G>T	p.Trp116Leu	p.W116L	ENST00000274547	NM_000813.2	116	tGg/tTg	0	validated		probablydamaging	
F11R		inserm.fr	GRCh37	1	160970847	160970847	+	synonymous_variant	Silent	SNP	G	A	A			CHC1611T																					ENST00000368026.6:c.204C>T	p.Asp68=	p.D68=	ENST00000368026	NM_016946.4	68	gaC/gaT	0	not done		synonymous	
LPA		inserm.fr	GRCh37	6	160978469	160978469	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1085T																					ENST00000447678.1:c.4766C>T	p.Thr1589Ile	p.T1589I	ENST00000447678	NM_005577.2	1589	aCt/aTt	0	validated		possiblydamaging	
PVRL4		inserm.fr	GRCh37	1	161042628	161042628	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1756T																					ENST00000368012.3:c.1356G>T	p.Arg452Ser	p.R452S	ENST00000368012	NM_030916.2	452	agG/agT	0	not done		possiblydamaging	
PFDN2		inserm.fr	GRCh37	1	161071881	161071881	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1616T																					ENST00000368010.3:c.245C>T	p.Thr82Ile	p.T82I	ENST00000368010	NM_012394.3	82	aCt/aTt	0	not done		probablydamaging	
ABCC1		inserm.fr	GRCh37	16	16108419	16108419	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1192T																					ENST00000399410.3:c.423C>A	p.Phe141Leu	p.F141L	ENST00000399410	NM_004996.3	141	ttC/ttA	0	validated		probablydamaging	
PFDN2		inserm.fr	GRCh37	1	161087802	161087802	+	synonymous_variant	Silent	SNP	G	A	A			CHC1725T																					ENST00000368010.3:c.15C>T	p.Ser5=	p.S5=	ENST00000368010	NM_012394.3	5	agC/agT	0	not done		synonymous	
GABRA6		inserm.fr	GRCh37	5	161113327	161113327	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC433T									Valid												ENST00000274545.5:c.130G>A	p.Asp44Asn	p.D44N	ENST00000274545		44	Gac/Aac	0	validated		probablydamaging	
USP21		inserm.fr	GRCh37	1	161130992	161130992	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000368002.3:c.562G>A	p.Ala188Thr	p.A188T	ENST00000368002	NM_001014443.2	188	Gcc/Acc	0	validated		possiblydamaging	
PPOX		inserm.fr	GRCh37	1	161137239	161137239	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2098T																					ENST00000367999.4:c.301G>A	p.Val101Met	p.V101M	ENST00000367999	NM_001122764.1	101	Gtg/Atg	0	validated		probablydamaging	
GABRA1		inserm.fr	GRCh37	5	161322791	161322791	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB157T																					ENST00000428797.2:c.976T>A	p.Ser326Thr	p.S326T	ENST00000428797	NM_001127643.1	326	Tca/Aca	0	validated		probablydamaging	
MYLIP		inserm.fr	GRCh37	6	16145166	16145166	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000356840.3:c.866G>A	p.Ser289Asn	p.S289N	ENST00000356840	NM_013262.3	289	aGc/aAc	0	not done		probablydamaging	
MAP3K4		inserm.fr	GRCh37	6	161470962	161470962	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1595T																					ENST00000392142.4:c.1658C>A	p.Ser553Tyr	p.S553Y	ENST00000392142	NM_005922.2	553	tCc/tAc	0	validated		probablydamaging	
MAP3K4		inserm.fr	GRCh37	6	161470973	161470973	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000392142.4:c.1669G>A	p.Ala557Thr	p.A557T	ENST00000392142	NM_005922.2	557	Gca/Aca	0	not done		probablydamaging	
AGPAT4		inserm.fr	GRCh37	6	161587359	161587359	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000320285.4:c.269C>T	p.Ala90Val	p.A90V	ENST00000320285	NM_020133.2	90	gCc/gTc	0	not done		probablydamaging	
FCRLA		inserm.fr	GRCh37	1	161681041	161681041	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000367959.2:c.345G>A	p.Gly115=	p.G115=	ENST00000367959	NM_001184866.1	115	ggG/ggA	0	not done		synonymous	
FCRLB		inserm.fr	GRCh37	1	161697132	161697132	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000367948.2:c.961G>A	p.Val321Met	p.V321M	ENST00000367948		321	Gtg/Atg	0	not done		possiblydamaging	
GRPR		inserm.fr	GRCh37	X	16170414	16170414	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000380289.2:c.801G>A	p.Leu267=	p.L267=	ENST00000380289	NM_005314.2	267	ctG/ctA	0	not done		synonymous	
MARCH11		inserm.fr	GRCh37	5	16179250	16179250	+	synonymous_variant	Silent	SNP	G	A	A			CHC2048T																					ENST00000332432.8:c.435C>T	p.Cys145=	p.C145=	ENST00000332432	NM_001102562.1	145	tgC/tgT	0	not done		synonymous	
MAGEB17		inserm.fr	GRCh37	X	16189218	16189218	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1604T																					ENST00000400004.2:c.713T>A	p.Ile238Asn	p.I238N	ENST00000400004	NM_001277307.1	238	aTc/aAc	0	not done			
ABCC1		inserm.fr	GRCh37	16	16215987	16215987	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000399410.3:c.3546G>A	p.Val1182=	p.V1182=	ENST00000399410	NM_004996.3	1182	gtG/gtA	0	not done		synonymous	
GALNT15		inserm.fr	GRCh37	3	16217002	16217002	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000339732.5:c.344G>A	p.Gly115Glu	p.G115E	ENST00000339732	NM_054110.4	115	gGg/gAg	0	not done		possiblydamaging	
RAB8A		inserm.fr	GRCh37	19	16222733	16222733	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1053T																					ENST00000300935.3:c.22C>A	p.Leu8Met	p.L8M	ENST00000300935	NM_005370.4	8	Ctg/Atg	0	validated		possiblydamaging	
ABCC1		inserm.fr	GRCh37	16	16228280	16228280	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC314T									Valid												ENST00000399410.3:c.4040C>A	p.Ala1347Asp	p.A1347D	ENST00000399410	NM_004996.3	1347	gCc/gAc	0	validated		possiblydamaging	
FSTL5		inserm.fr	GRCh37	4	162307132	162307132	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC798T									Valid												ENST00000306100.5:c.2311C>T	p.Leu771Phe	p.L771F	ENST00000306100	NM_001128427.2	771	Ctc/Ttc	0	validated		probablydamaging	
NOS1AP		inserm.fr	GRCh37	1	162313669	162313669	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000361897.5:c.498G>A	p.Glu166=	p.E166=	ENST00000361897	NM_014697.2	166	gaG/gaA	0	not done		synonymous	
NOS1AP		inserm.fr	GRCh37	1	162325095	162325095	+	synonymous_variant	Silent	SNP	T	A	A			CHC2202T																					ENST00000361897.5:c.714T>A	p.Thr238=	p.T238=	ENST00000361897	NM_014697.2	238	acT/acA	0	not done		synonymous	
NOS1AP		inserm.fr	GRCh37	1	162337001	162337001	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000361897.5:c.1265G>A	p.Arg422His	p.R422H	ENST00000361897	NM_014697.2	422	cGc/cAc	0	not done		possiblydamaging	
FSTL5		inserm.fr	GRCh37	4	162380401	162380401	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000306100.5:c.1679G>T	p.Ser560Ile	p.S560I	ENST00000306100	NM_001128427.2	560	aGc/aTc	0	not done		probablydamaging	
UHMK1		inserm.fr	GRCh37	1	162470031	162470031	+	synonymous_variant	Silent	SNP	C	A	A			CHC1205T																					ENST00000489294.1:c.555C>A	p.Gly185=	p.G185=	ENST00000489294	NM_175866.4	185	ggC/ggA	0	validated		synonymous	
UHMK1		inserm.fr	GRCh37	1	162492267	162492267	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000489294.1:c.1187G>A	p.Gly396Glu	p.G396E	ENST00000489294	NM_175866.4	396	gGg/gAg	0	not done		probablydamaging	
UAP1		inserm.fr	GRCh37	1	162536079	162536079	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000367926.4:c.221G>A	p.Arg74Gln	p.R74Q	ENST00000367926	NM_003115.4	74	cGa/cAa	0	not done		benign	
FSTL5		inserm.fr	GRCh37	4	162577639	162577639	+	synonymous_variant	Silent	SNP	G	A	A			CHC303T																					ENST00000306100.5:c.735C>T	p.Ile245=	p.I245=	ENST00000306100	NM_001128427.2	245	atC/atT	0	validated		synonymous	
PARK2		inserm.fr	GRCh37	6	162622183	162622183	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000366898.1:c.514G>T	p.Ala172Ser	p.A172S	ENST00000366898	NM_004562.2	172	Gca/Tca	0	not done		benign	
ZBTB17		inserm.fr	GRCh37	1	16269148	16269148	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC793T																					ENST00000375743.4:c.1914G>T	p.Gln638His	p.Q638H	ENST00000375743	NM_003443.2	638	caG/caT	0	validated		benign	
DDR2		inserm.fr	GRCh37	1	162740256	162740256	+	synonymous_variant	Silent	SNP	G	A	A			CHC1704T																					ENST00000367921.3:c.1458G>A	p.Arg486=	p.R486=	ENST00000367921	NM_006182.2	486	agG/agA	0	not done		synonymous	
DDR2		inserm.fr	GRCh37	1	162746075	162746075	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000367921.3:c.2198G>A	p.Arg733Lys	p.R733K	ENST00000367921	NM_006182.2	733	aGg/aAg	0	not done		probablydamaging	
HSD17B7		inserm.fr	GRCh37	1	162774076	162774076	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1028T																					ENST00000254521.3:c.767C>A	p.Ala256Glu	p.A256E	ENST00000254521	NM_016371.2	256	gCa/gAa	0	validated		possiblydamaging	
GMPR		inserm.fr	GRCh37	6	16279108	16279108	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000259727.4:c.641G>A	p.Gly214Asp	p.G214D	ENST00000259727	NM_006877.3	214	gGc/gAc	0	not done		probablydamaging	
SLC4A10		inserm.fr	GRCh37	2	162813717	162813717	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2206T																					ENST00000446997.1:c.2760G>A	p.Met920Ile	p.M920I	ENST00000446997	NM_001178015.1	920	atG/atA	0	not done		probablydamaging	
ABCC6		inserm.fr	GRCh37	16	16282760	16282760	+	synonymous_variant	Silent	SNP	C	A	A			CHC793T																					ENST00000205557.7:c.1707G>T	p.Val569=	p.V569=	ENST00000205557	NM_001171.5	569	gtG/gtT	0	validated		synonymous	
HMMR		inserm.fr	GRCh37	5	162887727	162887727	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000393915.4:c.29G>A	p.Arg10Gln	p.R10Q	ENST00000393915	NM_001142556.1	10	cGa/cAa	0	not done		probablydamaging	
HMMR		inserm.fr	GRCh37	5	162898442	162898442	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000393915.4:c.623G>A	p.Gly208Glu	p.G208E	ENST00000393915	NM_001142556.1	208	gGg/gAg	0	not done		benign	
HMMR		inserm.fr	GRCh37	5	162905734	162905734	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM399T									Valid												ENST00000393915.4:c.1313C>A	p.Ala438Asp	p.A438D	ENST00000393915	NM_001142556.1	438	gCc/gAc	0	validated		probablydamaging	
KRTAP5-3		inserm.fr	GRCh37	11	1629188	1629188	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1741T																					ENST00000399685.1:c.428C>T	p.Ser143Leu	p.S143L	ENST00000399685	NM_001012708.2	143	tCa/tTa	0	validated		possiblydamaging	
WDR81		inserm.fr	GRCh37	17	1630392	1630392	+	synonymous_variant	Silent	SNP	G	A	A			CHC1209T																					ENST00000409644.1:c.2139G>A	p.Glu713=	p.E713=	ENST00000409644	NM_001163809.1	713	gaG/gaA	0	not done		synonymous	
RGS4		inserm.fr	GRCh37	1	163042197	163042197	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1746T																					ENST00000421743.2:c.348G>A	p.Met116Ile	p.M116I	ENST00000421743	NM_001102445.2	116	atG/atA	0	not done		benign	
DPH3		inserm.fr	GRCh37	3	16305702	16305702	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1603T																					ENST00000488423.1:c.143G>T	p.Cys48Phe	p.C48F	ENST00000488423	NM_206831.2	48	tGt/tTt	0	not done		probablydamaging	
KCNH7		inserm.fr	GRCh37	2	163236410	163236410	+	synonymous_variant	Silent	SNP	G	A	A			CHC327T																					ENST00000332142.5:c.3084C>T	p.Tyr1028=	p.Y1028=	ENST00000332142	NM_033272.3	1028	taC/taT	0	validated		synonymous	
KCNH7		inserm.fr	GRCh37	2	163241228	163241228	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000332142.5:c.2932C>T	p.His978Tyr	p.H978Y	ENST00000332142	NM_033272.3	978	Cac/Tac	0	not done		benign	
TRPV2		inserm.fr	GRCh37	17	16326865	16326865	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000338560.7:c.708C>A	p.Ala236=	p.A236=	ENST00000338560	NM_016113.4	236	gcC/gcA	0	not done		synonymous	
NUF2		inserm.fr	GRCh37	1	163295897	163295897	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1747T																					ENST00000271452.3:c.56G>A	p.Arg19His	p.R19H	ENST00000271452	NM_145697.2	19	cGc/cAc	0	not done		probablydamaging	
TRPV2		inserm.fr	GRCh37	17	16340124	16340124	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1624T																					ENST00000338560.7:c.2216T>A	p.Leu739Gln	p.L739Q	ENST00000338560	NM_016113.4	739	cTg/cAg	0	validated		benign	
WDR81		inserm.fr	GRCh37	17	1634431	1634431	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1568T																					ENST00000409644.1:c.4036G>A	p.Val1346Met	p.V1346M	ENST00000409644	NM_001163809.1	1346	Gtg/Atg	0	not done		probablydamaging	
NOMO3		inserm.fr	GRCh37	16	16350005	16350005	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1743T																					ENST00000399336.4:c.1210G>A	p.Val404Ile	p.V404I	ENST00000399336	NM_001004067.3	404	Gtt/Att	0	not done		benign	
CLCNKA		inserm.fr	GRCh37	1	16354553	16354553	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1746T																					ENST00000331433.4:c.907C>A	p.Gln303Lys	p.Q303K	ENST00000331433		303	Cag/Aag	0	not done		possiblydamaging	
CDK11A		inserm.fr	GRCh37	1	1635515	1635515	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2127T																					ENST00000404249.3:c.1757A>T	p.Gln586Leu	p.Q586L	ENST00000404249	NM_024011.2	586	cAg/cTg	0	validated			
CLCNKA		inserm.fr	GRCh37	1	16355296	16355296	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2351T																					ENST00000331433.4:c.1009T>A	p.Ser337Thr	p.S337T	ENST00000331433		337	Tcc/Acc	0	not done		possiblydamaging	
KIF16B		inserm.fr	GRCh37	20	16360793	16360793	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1700T																					ENST00000408042.1:c.1854A>T	p.Glu618Asp	p.E618D	ENST00000408042	NM_001199866.1	618	gaA/gaT	0	not done		probablydamaging	
FAM131C		inserm.fr	GRCh37	1	16386046	16386046	+	synonymous_variant	Silent	SNP	G	A	A			CHC1055T																					ENST00000375662.4:c.505C>T	p.Leu169=	p.L169=	ENST00000375662	NM_182623.2	169	Ctg/Ttg	0	validated		synonymous	
WDR81		inserm.fr	GRCh37	17	1638940	1638940	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB325T																					ENST00000409644.1:c.5254C>A	p.His1752Asn	p.H1752N	ENST00000409644	NM_001163809.1	1752	Cac/Aac	0	validated		benign	
NAF1		inserm.fr	GRCh37	4	164087649	164087649	+	synonymous_variant	Silent	SNP	C	A	A			CHC2052T																					ENST00000274054.2:c.231G>T	p.Gly77=	p.G77=	ENST00000274054	NM_138386.2	77	ggG/ggT	0	not done		synonymous	
BNC2		inserm.fr	GRCh37	9	16419131	16419131	+	synonymous_variant	Silent	SNP	C	A	A			CHC1626T																					ENST00000380672.4:c.3156G>T	p.Val1052=	p.V1052=	ENST00000380672	NM_017637.5	1052	gtG/gtT	0	not done		synonymous	
KRTAP5-4		inserm.fr	GRCh37	11	1643267	1643267	+	synonymous_variant	Silent	SNP	G	A	A			CHC1152T																					ENST00000399682.1:c.57C>T	p.Ser19=	p.S19=	ENST00000399682	NM_001012709.1	19	tcC/tcT	0	validated		synonymous	
KRTAP5-4		inserm.fr	GRCh37	11	1643267	1643267	+	synonymous_variant	Silent	SNP	G	A	A			CHC1602T																					ENST00000399682.1:c.57C>T	p.Ser19=	p.S19=	ENST00000399682	NM_001012709.1	19	tcC/tcT	0	validated		synonymous	
TKTL2		inserm.fr	GRCh37	4	164394538	164394538	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000280605.3:c.349C>T	p.Pro117Ser	p.P117S	ENST00000280605	NM_032136.4	117	Ccg/Tcg	0	not done		benign	
TKTL2		inserm.fr	GRCh37	4	164394869	164394869	+	synonymous_variant	Silent	SNP	G	A	A			CHC912T																					ENST00000280605.3:c.18C>T	p.Ala6=	p.A6=	ENST00000280605	NM_032136.4	6	gcC/gcT	0	validated		synonymous	
TMA16		inserm.fr	GRCh37	4	164428251	164428251	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000358572.5:c.70G>A	p.Ala24Thr	p.A24T	ENST00000358572	NM_018352.2	24	Gca/Aca	0	not done		probablydamaging	
ZNF622		inserm.fr	GRCh37	5	16453259	16453259	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1756T																					ENST00000308683.2:c.1169G>T	p.Arg390Ile	p.R390I	ENST00000308683	NM_033414.2	390	aGa/aTa	0	not done		possiblydamaging	
ZNF287		inserm.fr	GRCh37	17	16455721	16455721	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000395824.1:c.1735C>T	p.Leu579Phe	p.L579F	ENST00000395824		579	Ctt/Ttt	0	not done		probablydamaging	
ZNF622		inserm.fr	GRCh37	5	16463374	16463374	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			BCM375T									Valid												ENST00000308683.2:c.892A>T	p.Lys298Ter	p.K298*	ENST00000308683	NM_033414.2	298	Aaa/Taa	0	validated		damaging	
SI		inserm.fr	GRCh37	3	164732941	164732941	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000264382.3:c.3969G>T	p.Trp1323Cys	p.W1323C	ENST00000264382	NM_001041.3	1323	tgG/tgT	0	not done		possiblydamaging	
SI		inserm.fr	GRCh37	3	164735764	164735764	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000264382.3:c.3514G>T	p.Ala1172Ser	p.A1172S	ENST00000264382	NM_001041.3	1172	Gca/Tca	0	not done		possiblydamaging	
SI		inserm.fr	GRCh37	3	164735798	164735798	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000264382.3:c.3480C>T	p.Gly1160=	p.G1160=	ENST00000264382	NM_001041.3	1160	ggC/ggT	0	not done		synonymous	
RFTN1		inserm.fr	GRCh37	3	16475398	16475398	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000334133.4:c.292G>T	p.Glu98Ter	p.E98*	ENST00000334133	NM_015150.1	98	Gag/Tag	0	not done		damaging	
PBX1		inserm.fr	GRCh37	1	164769082	164769082	+	synonymous_variant	Silent	SNP	G	A	A			CHC1751T																					ENST00000420696.2:c.657G>A	p.Thr219=	p.T219=	ENST00000420696	NM_002585.3	219	acG/acA	0	not done		synonymous	
SI		inserm.fr	GRCh37	3	164780228	164780228	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000264382.3:c.951C>T	p.Thr317=	p.T317=	ENST00000264382	NM_001041.3	317	acC/acT	0	validated		synonymous	
TCF3		inserm.fr	GRCh37	19	1650236	1650236	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000344749.5:c.12G>T	p.Pro4=	p.P4=	ENST00000344749	NM_001136139.2	4	ccG/ccT	0	not done		synonymous	
MGST1		inserm.fr	GRCh37	12	16507225	16507225	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC313T																					ENST00000396209.1:c.39C>A	p.Phe13Leu	p.F13L	ENST00000396209	NM_145791.2	13	ttC/ttA	0	validated		benign	
ANP32C		inserm.fr	GRCh37	4	165118553	165118553	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC2052T																					ENST00000512835.1:n.311C>T		*104*	ENST00000512835				0	not done		probablydamaging	
ZNF624		inserm.fr	GRCh37	17	16527642	16527642	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1148T																					ENST00000311331.7:c.558G>T	p.Leu186Phe	p.L186F	ENST00000311331	NM_020787.3	186	ttG/ttT	0	not done		benign	
ARHGEF19		inserm.fr	GRCh37	1	16531906	16531906	+	synonymous_variant	Silent	SNP	C	A	A			CHC2202T																					ENST00000270747.3:c.1596G>T	p.Arg532=	p.R532=	ENST00000270747	NM_153213.3	532	cgG/cgT	0	validated		synonymous	
LMX1A		inserm.fr	GRCh37	1	165324727	165324727	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000342310.3:c.70C>T	p.Leu24=	p.L24=	ENST00000342310	NM_177398.3	24	Ctg/Ttg	0	not done		synonymous	
ARHGEF19		inserm.fr	GRCh37	1	16535359	16535359	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1148T																					ENST00000270747.3:c.191G>T	p.Arg64Leu	p.R64L	ENST00000270747	NM_153213.3	64	cGc/cTc	0	not done		possiblydamaging	
ZNF624		inserm.fr	GRCh37	17	16552997	16552997	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000311331.7:c.62C>T	p.Ala21Val	p.A21V	ENST00000311331	NM_020787.3	21	gCt/gTt	0	not done		probablydamaging	
PTER		inserm.fr	GRCh37	10	16553117	16553117	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000378000.1:c.912G>A	p.Arg304=	p.R304=	ENST00000378000	NM_001001484.2	304	cgG/cgA	0	not done		synonymous	
ALDH9A1		inserm.fr	GRCh37	1	165649772	165649772	+	synonymous_variant	Silent	SNP	G	A	A			CHC794T																					ENST00000354775.4:c.741C>T	p.Pro247=	p.P247=	ENST00000354775	NM_000696.3	247	ccC/ccT	0	validated		synonymous	
ALDH9A1		inserm.fr	GRCh37	1	165664615	165664615	+	synonymous_variant	Silent	SNP	G	A	A			CHC1211T																					ENST00000354775.4:c.201C>T	p.Phe67=	p.F67=	ENST00000354775	NM_000696.3	67	ttC/ttT	0	not done		synonymous	
C6orf118		inserm.fr	GRCh37	6	165715700	165715700	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000230301.8:c.111C>T	p.Thr37=	p.T37=	ENST00000230301	NM_144980.3	37	acC/acT	0	not done		synonymous	
FAM53A		inserm.fr	GRCh37	4	1657312	1657312	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1207T																					ENST00000308132.6:c.275G>T	p.Arg92Leu	p.R92L	ENST00000308132	NM_001174070.1	92	cGc/cTc	0	not done		benign	
PDE10A		inserm.fr	GRCh37	6	165749684	165749684	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000539869.2:c.2195C>T	p.Ala732Val	p.A732V	ENST00000539869	NM_001130690.2	732	gCc/gTc	0	not done		probablydamaging	
SERPINF2		inserm.fr	GRCh37	17	1657573	1657573	+	synonymous_variant	Silent	SNP	C	A	A			BCM703T																					ENST00000324015.3:c.1221C>A	p.Ser407=	p.S407=	ENST00000324015	NM_000934.3	407	tcC/tcA	0	validated		synonymous	
FBXO42		inserm.fr	GRCh37	1	16578817	16578817	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000375592.3:c.1004G>T	p.Gly335Val	p.G335V	ENST00000375592	NM_018994.1	335	gGg/gTg	0	not done		probablydamaging	
CCDC144A		inserm.fr	GRCh37	17	16593925	16593925	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC121T																					ENST00000443444.2:c.211C>A	p.Gln71Lys	p.Q71K	ENST00000443444		71	Cag/Aag	0	validated		probablydamaging	
SCN3A		inserm.fr	GRCh37	2	165947245	165947245	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2362T																					ENST00000283254.7:c.5418G>T	p.Gln1806His	p.Q1806H	ENST00000283254	NM_001081676.1	1806	caG/caT	0	validated		benign	
SCN3A		inserm.fr	GRCh37	2	165969485	165969485	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000283254.7:c.3753C>T	p.Phe1251=	p.F1251=	ENST00000283254	NM_001081676.1	1251	ttC/ttT	0	not done		synonymous	
SCN3A		inserm.fr	GRCh37	2	165984471	165984471	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1534T																					ENST00000283254.7:c.3063G>T	p.Lys1021Asn	p.K1021N	ENST00000283254	NM_001081676.1	1021	aaG/aaT	0	validated		probablydamaging	
FAM78B		inserm.fr	GRCh37	1	166135306	166135306	+	synonymous_variant	Silent	SNP	G	A	A			CHC1040T																					ENST00000338353.3:c.180C>T	p.Ile60=	p.I60=	ENST00000338353		60	atC/atT	0	not done		synonymous	
KLHL2		inserm.fr	GRCh37	4	166184445	166184445	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000514860.1:c.490G>A	p.Gly164Arg	p.G164R	ENST00000514860		164	Gga/Aga	0	not done		probablydamaging	
CPE		inserm.fr	GRCh37	4	166389008	166389008	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC2052T																					ENST00000402744.4:c.672+1G>A		p.X224_splice	ENST00000402744	NM_001873.2			0	not done		damaging	
SLC35E2		inserm.fr	GRCh37	1	1663953	1663953	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000246421.4:c.742G>T	p.Ala248Ser	p.A248S	ENST00000246421	NM_182838.2	248	Gcc/Tcc	0	not done			
FBXO42		inserm.fr	GRCh37	1	16641853	16641853	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC432T																					ENST00000375592.3:c.61G>T	p.Val21Leu	p.V21L	ENST00000375592	NM_018994.1	21	Gtg/Ttg	0	not done		benign	
CHERP		inserm.fr	GRCh37	19	16643825	16643825	+	synonymous_variant	Silent	SNP	G	A	A			CHC1629T																					ENST00000546361.2:c.519C>T	p.Ile173=	p.I173=	ENST00000546361	NM_006387.5	173	atC/atT	0	not done		synonymous	
GALNT3		inserm.fr	GRCh37	2	166621492	166621492	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T									Valid												ENST00000392701.3:c.590C>T	p.Ala197Val	p.A197V	ENST00000392701	NM_004482.3	197	gCg/gTg	0	validated		probablydamaging	
PRR18		inserm.fr	GRCh37	6	166720957	166720957	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T																					ENST00000322583.3:c.674G>T	p.Ser225Ile	p.S225I	ENST00000322583	NM_175922.3	225	aGc/aTc	0	validated		probablydamaging	
PXDN		inserm.fr	GRCh37	2	1667418	1667418	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000252804.4:c.1526G>T	p.Gly509Val	p.G509V	ENST00000252804	NM_012293.1	509	gGc/gTc	0	not done		probablydamaging	
TTC21B		inserm.fr	GRCh37	2	166786160	166786160	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	A	A			CHC197T									Valid												ENST00000243344.7:c.1185G>T	p.Ala395=	p.A395=	ENST00000243344	NM_024753.4	395	gcG/gcT	0	validated		possiblydamaging	
SLC35E1		inserm.fr	GRCh37	19	16678970	16678970	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC912T									Valid												ENST00000595753.1:c.503C>T	p.Ser168Leu	p.S168L	ENST00000595753	NM_024881.4	168	tCa/tTa	0	validated		probablydamaging	
MYO10		inserm.fr	GRCh37	5	16680191	16680191	+	synonymous_variant	Silent	SNP	G	A	A			CHC1720T																					ENST00000513610.1:c.4407C>T	p.Tyr1469=	p.Y1469=	ENST00000513610	NM_012334.2	1469	taC/taT	0	not done		synonymous	
RPS6KA2		inserm.fr	GRCh37	6	166836855	166836855	+	synonymous_variant	Silent	SNP	C	A	A			BCM567T																					ENST00000503859.1:c.1656G>T	p.Ser552=	p.S552=	ENST00000503859	NM_001006932.1	552	tcG/tcT	0	validated		synonymous	
SCN1A		inserm.fr	GRCh37	2	166901739	166901739	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC051T																					ENST00000303395.4:c.1476G>T	p.Lys492Asn	p.K492N	ENST00000303395		492	aaG/aaT	0	validated		benign	
SCN1A		inserm.fr	GRCh37	2	166903382	166903382	+	synonymous_variant	Silent	SNP	G	A	A			BCB167T																					ENST00000303395.4:c.1275C>T	p.Ala425=	p.A425=	ENST00000303395		425	gcC/gcT	0	validated		synonymous	
TLL1		inserm.fr	GRCh37	4	166913973	166913973	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC218T																					ENST00000061240.2:c.298G>A	p.Ala100Thr	p.A100T	ENST00000061240	NM_012464.4	100	Gct/Act	0	validated		benign	
TLL1		inserm.fr	GRCh37	4	166915583	166915583	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000061240.2:c.412G>A	p.Gly138Arg	p.G138R	ENST00000061240	NM_012464.4	138	Ggg/Agg	0	not done		benign	
SCN1A		inserm.fr	GRCh37	2	166930110	166930110	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000303395.4:c.22C>T	p.Pro8Ser	p.P8S	ENST00000303395		8	Cca/Tca	0	not done		possiblydamaging	
ZBBX		inserm.fr	GRCh37	3	166958663	166958663	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1052T									Valid												ENST00000455345.2:c.2438C>T	p.Ser813Phe	p.S813F	ENST00000455345		813	tCt/tTt	0	validated		probablydamaging	
TLL1		inserm.fr	GRCh37	4	166996126	166996126	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1534T																					ENST00000061240.2:c.2285T>A	p.Leu762Gln	p.L762Q	ENST00000061240	NM_012464.4	762	cTa/cAa	0	validated		probablydamaging	
MYO10		inserm.fr	GRCh37	5	16701159	16701159	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000513610.1:c.3345C>T	p.Ser1115=	p.S1115=	ENST00000513610	NM_012334.2	1115	agC/agT	0	not done		synonymous	
MYO10		inserm.fr	GRCh37	5	16701597	16701597	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000513610.1:c.2907C>T	p.Ser969=	p.S969=	ENST00000513610	NM_012334.2	969	agC/agT	0	not done		synonymous	
DUSP27		inserm.fr	GRCh37	1	167064158	167064158	+	synonymous_variant	Silent	SNP	G	A	A			CHC1053T																					ENST00000361200.2:c.72G>A	p.Ala24=	p.A24=	ENST00000361200		24	gcG/gcA	0	validated		synonymous	
DUSP27		inserm.fr	GRCh37	1	167095904	167095904	+	synonymous_variant	Silent	SNP	G	A	A			CHC1053T																					ENST00000361200.2:c.1536G>A	p.Gly512=	p.G512=	ENST00000361200		512	ggG/ggA	0	validated		synonymous	
DUSP27		inserm.fr	GRCh37	1	167096659	167096659	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000361200.2:c.2291G>A	p.Gly764Glu	p.G764E	ENST00000361200		764	gGg/gAg	0	not done		possiblydamaging	
MYO10		inserm.fr	GRCh37	5	16711101	16711101	+	synonymous_variant	Silent	SNP	C	A	A			CHC155T																					ENST00000513610.1:c.2085G>T	p.Leu695=	p.L695=	ENST00000513610	NM_012334.2	695	ctG/ctT	0	validated		synonymous	
WDR49		inserm.fr	GRCh37	3	167223144	167223144	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC734T																					ENST00000308378.3:c.1779G>T	p.Met593Ile	p.M593I	ENST00000308378	NM_178824.3	593	atG/atT	0	validated		benign	
WDR49		inserm.fr	GRCh37	3	167247018	167247018	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC197T																					ENST00000308378.3:c.1172A>T	p.Asn391Ile	p.N391I	ENST00000308378	NM_178824.3	391	aAc/aTc	0	validated		benign	
OTOR		inserm.fr	GRCh37	20	16729585	16729585	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000246081.2:c.189G>A	p.Gly63=	p.G63=	ENST00000246081	NM_020157.3	63	ggG/ggA	0	not done		synonymous	
WDR49		inserm.fr	GRCh37	3	167322135	167322135	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000308378.3:c.57C>T	p.Ala19=	p.A19=	ENST00000308378	NM_178824.3	19	gcC/gcT	0	not done		synonymous	
WDR49		inserm.fr	GRCh37	3	167322181	167322181	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM545T																					ENST00000308378.3:c.11G>T	p.Arg4Ile	p.R4I	ENST00000308378	NM_178824.3	4	aGa/aTa	0	validated		possiblydamaging	
POU2F1		inserm.fr	GRCh37	1	167334724	167334724	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000367866.2:c.148G>A	p.Asp50Asn	p.D50N	ENST00000367866	NM_002697.3	50	Gac/Aac	0	not done		probablydamaging	
FAM49A		inserm.fr	GRCh37	2	16734237	16734237	+	synonymous_variant	Silent	SNP	T	A	A			CHC1742T																					ENST00000381323.3:c.939A>T	p.Ser313=	p.S313=	ENST00000381323	NM_030797.3	313	tcA/tcT	0	not done		synonymous	
BNC2		inserm.fr	GRCh37	9	16738408	16738408	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000380672.4:c.79C>T	p.Pro27Ser	p.P27S	ENST00000380672	NM_017637.5	27	Cca/Tca	0	not done		benign	
CD247		inserm.fr	GRCh37	1	167407839	167407839	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1720T																					ENST00000362089.5:c.268C>T	p.Arg90Cys	p.R90C	ENST00000362089		90	Cgt/Tgt	0	not done		probablydamaging	
CD247		inserm.fr	GRCh37	1	167410005	167410005	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC917T																					ENST00000362089.5:c.59-1G>T		p.X20_splice	ENST00000362089				0	validated		damaging	
GPR31		inserm.fr	GRCh37	6	167570852	167570852	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000366834.1:c.468C>T	p.Ala156=	p.A156=	ENST00000366834	NM_005299.2	156	gcC/gcT	0	not done		synonymous	
TENM2		inserm.fr	GRCh37	5	167674060	167674060	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1731T																					ENST00000518659.1:c.6116C>A	p.Thr2039Asn	p.T2039N	ENST00000518659	NM_001122679.1	2039	aCc/aAc	0	not done		possiblydamaging	
SMIM7		inserm.fr	GRCh37	19	16770243	16770243	+	synonymous_variant	Silent	SNP	C	A	A			CHC465T																					ENST00000487416.2:c.84G>T	p.Thr28=	p.T28=	ENST00000487416	NM_024104.3	28	acG/acT	0	validated		synonymous	
SPOCK3		inserm.fr	GRCh37	4	167810307	167810307	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC961T																					ENST00000357154.3:c.572C>T	p.Thr191Ile	p.T191I	ENST00000357154	NM_016950.2	191	aCc/aTc	0	validated		benign	
GOLIM4		inserm.fr	GRCh37	3	167813040	167813040	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM337T																					ENST00000470487.1:c.34C>T	p.Arg12Trp	p.R12W	ENST00000470487	NM_014498.3	12	Cgg/Tgg	0	validated		probablydamaging	
GPR161		inserm.fr	GRCh37	1	168059824	168059824	+	synonymous_variant	Silent	SNP	G	A	A			CHC1754T																					ENST00000537209.1:c.1242C>T	p.Gly414=	p.G414=	ENST00000537209	NM_001267609.1	414	ggC/ggT	0	not done		synonymous	
XIRP2		inserm.fr	GRCh37	2	168100221	168100221	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000409195.1:c.2319G>A	p.Met773Ile	p.M773I	ENST00000409195	NM_152381.5	773	atG/atA	0	not done		possiblydamaging	
XIRP2		inserm.fr	GRCh37	2	168107152	168107152	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1600T																					ENST00000409195.1:c.9250G>A	p.Val3084Ile	p.V3084I	ENST00000409195	NM_152381.5	3084	Gta/Ata	0	not done		benign	
XIRP2		inserm.fr	GRCh37	2	168107547	168107547	+	synonymous_variant	Silent	SNP	C	A	A			CHC1209T																					ENST00000409195.1:c.9645C>A	p.Ile3215=	p.I3215=	ENST00000409195	NM_152381.5	3215	atC/atA	0	not done		synonymous	
XIRP2		inserm.fr	GRCh37	2	168115357	168115357	+	3_prime_UTR_variant	3'UTR	SNP	T	A	A			CHC1566T																					ENST00000409195.1:c.*1030T>A		*344*	ENST00000409195	NM_152381.5			0	not done		synonymous	
MYO10		inserm.fr	GRCh37	5	16818220	16818220	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000513610.1:c.177C>T	p.Pro59=	p.P59=	ENST00000513610	NM_012334.2	59	ccC/ccT	0	not done		synonymous	
SLIT3		inserm.fr	GRCh37	5	168201244	168201244	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1040T																					ENST00000519560.1:c.1291A>T	p.Thr431Ser	p.T431S	ENST00000519560	NM_003062.3	431	Aca/Tca	0	not done		probablydamaging	
SLIT3		inserm.fr	GRCh37	5	168201305	168201305	+	synonymous_variant	Silent	SNP	C	A	A			CHC1205T																					ENST00000519560.1:c.1230G>T	p.Leu410=	p.L410=	ENST00000519560	NM_003062.3	410	ctG/ctT	0	not done		synonymous	
TBX19		inserm.fr	GRCh37	1	168262513	168262513	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000367821.3:c.600G>A	p.Glu200=	p.E200=	ENST00000367821	NM_005149.2	200	gaG/gaA	0	not done		synonymous	
KIF25		inserm.fr	GRCh37	6	168434637	168434637	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC794T																					ENST00000443060.2:c.243C>A	p.Asp81Glu	p.D81E	ENST00000443060		81	gaC/gaA	0	validated		benign	
TNFRSF13B		inserm.fr	GRCh37	17	16843643	16843643	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000261652.2:c.628C>T	p.Gln210Ter	p.Q210*	ENST00000261652	NM_012452.2	210	Cag/Tag	0	not done		damaging	
TNFRSF13B		inserm.fr	GRCh37	17	16843685	16843685	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC121T									Valid												ENST00000261652.2:c.586C>T	p.Gln196Ter	p.Q196*	ENST00000261652	NM_012452.2	196	Cag/Tag	0	validated		damaging	
FRMD1		inserm.fr	GRCh37	6	168467497	168467497	+	synonymous_variant	Silent	SNP	G	A	A			CHC909T																					ENST00000283309.6:c.399C>T	p.Pro133=	p.P133=	ENST00000283309	NM_024919.3	133	ccC/ccT	0	not done		synonymous	
NWD1		inserm.fr	GRCh37	19	16855432	16855432	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000524140.2:c.399G>A	p.Glu133=	p.E133=	ENST00000524140	NM_001007525.3	133	gaG/gaA	0	not done		synonymous	
NWD1		inserm.fr	GRCh37	19	16870120	16870120	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000524140.2:c.1854G>A	p.Pro618=	p.P618=	ENST00000524140	NM_001007525.3	618	ccG/ccA	0	not done		synonymous	
MECOM		inserm.fr	GRCh37	3	168833203	168833203	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2048T																					ENST00000264674.3:c.2088A>T	p.Arg696Ser	p.R696S	ENST00000264674	NM_001105077.3	696	agA/agT	0	not done		probablydamaging	
MECOM		inserm.fr	GRCh37	3	168834063	168834063	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC2351T																					ENST00000264674.3:c.1228C>T	p.Gln410Ter	p.Q410*	ENST00000264674	NM_001105077.3	410	Cag/Tag	0	not done		damaging	
MECOM		inserm.fr	GRCh37	3	168845766	168845766	+	synonymous_variant	Silent	SNP	G	A	A			BCB157T																					ENST00000264674.3:c.324C>T	p.Cys108=	p.C108=	ENST00000264674	NM_001105077.3	108	tgC/tgT	0	validated		synonymous	
STK39		inserm.fr	GRCh37	2	168994654	168994654	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000355999.4:c.918C>T	p.Tyr306=	p.Y306=	ENST00000355999	NM_013233.2	306	taC/taT	0	not done		synonymous	
LDB2		inserm.fr	GRCh37	4	16900077	16900077	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC326T									Valid												ENST00000304523.5:c.32C>T	p.Ser11Phe	p.S11F	ENST00000304523	NM_001290.3	11	tCt/tTt	0	validated		probablydamaging	
NBPF1		inserm.fr	GRCh37	1	16905815	16905815	+	synonymous_variant	Silent	SNP	G	A	A			CHC614T																					ENST00000430580.2:c.1674C>T	p.Asn558=	p.N558=	ENST00000430580	NM_017940.4	558	aaC/aaT	0	validated		synonymous	
DOCK2		inserm.fr	GRCh37	5	169081484	169081484	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1061T																					ENST00000256935.8:c.121T>A	p.Cys41Ser	p.C41S	ENST00000256935	NM_004946.2	41	Tgt/Agt	0	validated		possiblydamaging	
NWD1		inserm.fr	GRCh37	19	16910973	16910973	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000524140.2:c.3736G>A	p.Gly1246Ser	p.G1246S	ENST00000524140	NM_001007525.3	1246	Ggc/Agc	0	not done		probablydamaging	
DOCK2		inserm.fr	GRCh37	5	169122882	169122882	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1616T																					ENST00000256935.8:c.919C>A	p.Leu307Ile	p.L307I	ENST00000256935	NM_004946.2	307	Ctt/Att	0	not done		probablydamaging	
NADK		inserm.fr	GRCh37	1	1691275	1691275	+	synonymous_variant	Silent	SNP	G	A	A			CHC1754T																					ENST00000344463.4:c.330C>T	p.Gly110=	p.G110=	ENST00000344463		110	ggC/ggT	0	not done		synonymous	
NWD1		inserm.fr	GRCh37	19	16918734	16918734	+	synonymous_variant	Silent	SNP	G	A	A			CHC1717T																					ENST00000524140.2:c.4074G>A	p.Thr1358=	p.T1358=	ENST00000524140	NM_001007525.3	1358	acG/acA	0	not done		synonymous	
CUBN		inserm.fr	GRCh37	10	16930537	16930537	+	synonymous_variant	Silent	SNP	T	A	A			CHC155T																					ENST00000377833.4:c.8784A>T	p.Ser2928=	p.S2928=	ENST00000377833	NM_001081.3	2928	tcA/tcT	0	validated		synonymous	
NLGN4Y		inserm.fr	GRCh37	Y	16936198	16936198	+	synonymous_variant	Silent	SNP	C	A	A			CHC1545T																					ENST00000355905.2:c.756C>A	p.Gly252=	p.G252=	ENST00000355905	NM_014893.4	252	ggC/ggA	0	validated		synonymous	
DOCK2		inserm.fr	GRCh37	5	169412832	169412832	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC2103T																					ENST00000256935.8:c.2899G>A	p.Asp967Asn	p.D967N	ENST00000256935	NM_004946.2	967	Gac/Aac	0	not done		probablydamaging	
MICU3		inserm.fr	GRCh37	8	16942783	16942783	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2358T																					ENST00000318063.5:c.733G>A	p.Asp245Asn	p.D245N	ENST00000318063	NM_181723.2	245	Gac/Aac	0	validated		probablydamaging	
SLC19A2		inserm.fr	GRCh37	1	169446588	169446588	+	synonymous_variant	Silent	SNP	C	A	A			CHC155T																					ENST00000236137.5:c.612G>T	p.Val204=	p.V204=	ENST00000236137	NM_006996.2	204	gtG/gtT	0	validated		synonymous	
DOCK2		inserm.fr	GRCh37	5	169484652	169484652	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000256935.8:c.4449G>A	p.Glu1483=	p.E1483=	ENST00000256935	NM_004946.2	1483	gaG/gaA	0	not done		synonymous	
F5		inserm.fr	GRCh37	1	169495224	169495224	+	synonymous_variant	Silent	SNP	T	A	A			CHC1738T																					ENST00000367797.3:c.5631A>T	p.Ser1877=	p.S1877=	ENST00000367797	NM_000130.4	1877	tcA/tcT	0	not done		synonymous	
MYNN		inserm.fr	GRCh37	3	169498433	169498433	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000349841.5:c.1116G>A	p.Gln372=	p.Q372=	ENST00000349841	NM_018657.4	372	caG/caA	0	not done		synonymous	
MYNN		inserm.fr	GRCh37	3	169502428	169502428	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000349841.5:c.1502G>A	p.Cys501Tyr	p.C501Y	ENST00000349841	NM_018657.4	501	tGc/tAc	0	not done		probablydamaging	
SIN3B		inserm.fr	GRCh37	19	16952662	16952662	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000379803.1:c.465G>A	p.Leu155=	p.L155=	ENST00000379803	NM_015260.2	155	ctG/ctA	0	not done		synonymous	
FOXI1		inserm.fr	GRCh37	5	169533097	169533097	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000306268.6:c.136C>A	p.Arg46=	p.R46=	ENST00000306268		46	Cgg/Agg	0	not done		synonymous	
FOXI1		inserm.fr	GRCh37	5	169533455	169533455	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1753T																					ENST00000306268.6:c.494C>A	p.Ala165Asp	p.A165D	ENST00000306268		165	gCc/gAc	0	not done		probablydamaging	
PALLD		inserm.fr	GRCh37	4	169611790	169611790	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000505667.1:c.1372G>A	p.Val458Met	p.V458M	ENST00000505667		458	Gtg/Atg	0	not done		probablydamaging	
THBS2		inserm.fr	GRCh37	6	169621599	169621599	+	synonymous_variant	Silent	SNP	G	A	A			CHC1743T																					ENST00000366787.3:c.3297C>T	p.Pro1099=	p.P1099=	ENST00000366787	NM_003247.2	1099	ccC/ccT	0	not done		synonymous	
THBS2		inserm.fr	GRCh37	6	169623458	169623458	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000366787.3:c.2886C>T	p.Phe962=	p.F962=	ENST00000366787	NM_003247.2	962	ttC/ttT	0	not done		synonymous	
THBS2		inserm.fr	GRCh37	6	169628279	169628279	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000366787.3:c.2357C>T	p.Ala786Val	p.A786V	ENST00000366787	NM_003247.2	786	gCc/gTc	0	not done		probablydamaging	
SAMD7		inserm.fr	GRCh37	3	169642892	169642892	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000428432.2:c.258G>A	p.Arg86=	p.R86=	ENST00000428432	NM_182610.2	86	agG/agA	0	not done		synonymous	
THBS2		inserm.fr	GRCh37	6	169648734	169648734	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000366787.3:c.387G>T	p.Trp129Cys	p.W129C	ENST00000366787	NM_003247.2	129	tgG/tgT	0	not done		probablydamaging	
C5orf58		inserm.fr	GRCh37	5	169672971	169672971	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1731T																					ENST00000521850.1:c.163T>A	p.Ser55Thr	p.S55T	ENST00000521850		55	Tcc/Acc	0	not done		benign	
LCP2		inserm.fr	GRCh37	5	169675811	169675811	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB151T																					ENST00000046794.5:c.1492G>T	p.Val498Leu	p.V498L	ENST00000046794	NM_005565.3	498	Gtg/Ttg	0	validated		probablydamaging	
NOSTRIN		inserm.fr	GRCh37	2	169718487	169718487	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1712T																					ENST00000444448.2:c.1483C>A	p.Leu495Ile	p.L495I	ENST00000444448		495	Ctc/Atc	0	not done		benign	
SIN3B		inserm.fr	GRCh37	19	16973250	16973250	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000379803.1:c.1146G>A	p.Gly382=	p.G382=	ENST00000379803	NM_015260.2	382	ggG/ggA	0	not done		synonymous	
SIN3B		inserm.fr	GRCh37	19	16980621	16980621	+	synonymous_variant	Silent	SNP	C	A	A			CHC1211T																					ENST00000379803.1:c.2253C>A	p.Ala751=	p.A751=	ENST00000379803	NM_015260.2	751	gcC/gcA	0	not done		synonymous	
CUBN		inserm.fr	GRCh37	10	16981116	16981116	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM375T																					ENST00000377833.4:c.5579A>T	p.His1860Leu	p.H1860L	ENST00000377833	NM_001081.3	1860	cAt/cTt	0	validated		probablydamaging	
SKIL		inserm.fr	GRCh37	3	170108988	170108988	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000458537.3:c.1836G>A	p.Lys612=	p.K612=	ENST00000458537	NM_001248008.1	612	aaG/aaA	0	not done		synonymous	
NTMT2		inserm.fr	GRCh37	1	170115370	170115370	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000439373.2:c.122G>A	p.Ser41Asn	p.S41N	ENST00000439373	NM_001136107.1	41	aGc/aAc	0	not done		probablydamaging	
CLDN11		inserm.fr	GRCh37	3	170140971	170140971	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC301T									Valid												ENST00000064724.3:c.247G>A	p.Ala83Thr	p.A83T	ENST00000064724	NM_005602.5	83	Gcc/Acc	0	validated		probablydamaging	
KCNIP1		inserm.fr	GRCh37	5	170160902	170160902	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000411494.1:c.636G>A	p.Glu212=	p.E212=	ENST00000411494		212	gaG/gaA	0	not done		damaging	
C6orf70		inserm.fr	GRCh37	6	170169655	170169655	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1700T																					ENST00000366773.3:c.1079T>A	p.Leu360Gln	p.L360Q	ENST00000366773	NM_018341.2	360	cTg/cAg	0	not done		probablydamaging	
SLC7A14		inserm.fr	GRCh37	3	170198868	170198868	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1534T																					ENST00000231706.5:c.1203G>T	p.Leu401Phe	p.L401F	ENST00000231706	NM_020949.2	401	ttG/ttT	0	validated		probablydamaging	
GABRP		inserm.fr	GRCh37	5	170222422	170222422	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000518525.1:c.451G>A	p.Ala151Thr	p.A151T	ENST00000518525		151	Gcc/Acc	0	not done		probablydamaging	
ZDHHC2		inserm.fr	GRCh37	8	17043926	17043926	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2113T																					ENST00000262096.8:c.244T>A	p.Ser82Thr	p.S82T	ENST00000262096	NM_016353.4	82	Tca/Aca	0	validated		benign	
PPIG		inserm.fr	GRCh37	2	170493475	170493475	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000260970.3:c.1707G>A	p.Arg569=	p.R569=	ENST00000260970	NM_004792.2	569	agG/agA	0	not done		synonymous	
PPIG		inserm.fr	GRCh37	2	170493965	170493965	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB109T																					ENST00000260970.3:c.2197G>A	p.Val733Ile	p.V733I	ENST00000260970	NM_004792.2	733	Gta/Ata	0	validated		benign	
PLCL2		inserm.fr	GRCh37	3	17052023	17052023	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000418129.2:c.807G>A	p.Gln269=	p.Q269=	ENST00000418129	NM_001144382.1	269	caG/caA	0	not done		synonymous	
PHOSPHO2		inserm.fr	GRCh37	2	170557503	170557503	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1600T																					ENST00000359744.3:c.22G>A	p.Asp8Asn	p.D8N	ENST00000359744	NM_001199286.1	8	Gac/Aac	0	not done		probablydamaging	
DLL1		inserm.fr	GRCh37	6	170592733	170592733	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1626T																					ENST00000366756.3:c.1634G>T	p.Trp545Leu	p.W545L	ENST00000366756	NM_005618.3	545	tGg/tTg	0	not done		probablydamaging	
DLL1		inserm.fr	GRCh37	6	170592753	170592753	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000366756.3:c.1614C>T	p.Gly538=	p.G538=	ENST00000366756	NM_005618.3	538	ggC/ggT	0	not done		synonymous	
FAM120B		inserm.fr	GRCh37	6	170626885	170626885	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000476287.1:c.407G>A	p.Gly136Glu	p.G136E	ENST00000476287	NM_032448.1	136	gGg/gAg	0	not done		probablydamaging	
REPS2		inserm.fr	GRCh37	X	17065546	17065546	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC896T																					ENST00000357277.3:c.848G>A	p.Arg283His	p.R283H	ENST00000357277	NM_001080975.1	283	cGc/cAc	0	not done		probablydamaging	
C4orf27		inserm.fr	GRCh37	4	170663170	170663170	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2215T																					ENST00000393381.2:c.586G>T	p.Ala196Ser	p.A196S	ENST00000393381	NM_017867.2	196	Gcc/Tcc	0	validated		probablydamaging	
CRAMP1L		inserm.fr	GRCh37	16	1706779	1706779	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000397412.3:c.2021G>A	p.Arg674His	p.R674H	ENST00000397412		674	cGt/cAt	0	not done		benign	
PRRX1		inserm.fr	GRCh37	1	170695508	170695508	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1742T																					ENST00000239461.6:c.565G>A	p.Asp189Asn	p.D189N	ENST00000239461	NM_022716.2	189	Gat/Aat	0	not done		possiblydamaging	
TLX3		inserm.fr	GRCh37	5	170736505	170736505	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000296921.5:c.136G>A	p.Gly46Arg	p.G46R	ENST00000296921	NM_021025.2	46	Ggg/Agg	0	not done		benign	
TLX3		inserm.fr	GRCh37	5	170738540	170738540	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000296921.5:c.813G>A	p.Leu271=	p.L271=	ENST00000296921	NM_021025.2	271	ctG/ctA	0	not done		synonymous	
UBR3		inserm.fr	GRCh37	2	170783829	170783829	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000418381.1:c.2339-1G>A		p.X780_splice	ENST00000418381	NM_172070.3			0	not done		damaging	
CUBN		inserm.fr	GRCh37	10	17083183	17083183	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC912T									Valid												ENST00000377833.4:c.3866G>T	p.Gly1289Val	p.G1289V	ENST00000377833	NM_001081.3	1289	gGc/gTc	0	validated		probablydamaging	
MROH9		inserm.fr	GRCh37	1	170955788	170955788	+	synonymous_variant	Silent	SNP	C	A	A			CHC1731T																					ENST00000367759.4:c.816C>A	p.Ile272=	p.I272=	ENST00000367759	NM_001163629.1	272	atC/atA	0	not done		synonymous	
MROH9		inserm.fr	GRCh37	1	170993833	170993833	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1611T																					ENST00000367759.4:c.2105G>A	p.Trp702Ter	p.W702*	ENST00000367759	NM_001163629.1	702	tGg/tAg	0	not done		damaging	
PLD6		inserm.fr	GRCh37	17	17109490	17109490	+	synonymous_variant	Silent	SNP	C	A	A			CHC961T																					ENST00000321560.3:c.111G>T	p.Pro37=	p.P37=	ENST00000321560	NM_178836.3	37	ccG/ccT	0	validated		synonymous	
CTB-78H18.1		inserm.fr	GRCh37	5	171201394	171201394	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			BCM567T									Valid												ENST00000524175.1:c.185T>A	p.Leu62Ter	p.L62*	ENST00000524175		62	tTa/tAa	0	validated		damaging	
CPAMD8		inserm.fr	GRCh37	19	17122495	17122495	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000443236.1:c.481C>T	p.Leu161Phe	p.L161F	ENST00000443236	NM_015692.2	161	Ctc/Ttc	0	not done		possiblydamaging	
FMO4		inserm.fr	GRCh37	1	171301994	171301994	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000367749.3:c.774G>A	p.Arg258=	p.R258=	ENST00000367749	NM_002022.1	258	agG/agA	0	not done		synonymous	
PLD1		inserm.fr	GRCh37	3	171392384	171392384	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1568T																					ENST00000351298.4:c.2135G>T	p.Arg712Leu	p.R712L	ENST00000351298	NM_002662.4	712	cGg/cTg	0	not done		probablydamaging	
STK10		inserm.fr	GRCh37	5	171481686	171481686	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000176763.5:c.2539G>T	p.Glu847Ter	p.E847*	ENST00000176763	NM_005990.3	847	Gag/Tag	0	not done		damaging	
PRRC2C		inserm.fr	GRCh37	1	171484984	171484984	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000338920.4:c.506G>A	p.Ser169Asn	p.S169N	ENST00000338920	NM_015172.3	169	aGt/aAt	0	not done		benign	
STK10		inserm.fr	GRCh37	5	171520793	171520793	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2206T																					ENST00000176763.5:c.1177C>T	p.Pro393Ser	p.P393S	ENST00000176763	NM_005990.3	393	Ccc/Tcc	0	not done		benign	
SP5		inserm.fr	GRCh37	2	171573093	171573093	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM723T																					ENST00000375281.3:c.376T>A	p.Ser126Thr	p.S126T	ENST00000375281	NM_001003845.2	126	Tcg/Acg	0	validated		possiblydamaging	
SP5		inserm.fr	GRCh37	2	171573623	171573623	+	synonymous_variant	Silent	SNP	C	A	A			CHC2115T																					ENST00000375281.3:c.906C>A	p.Gly302=	p.G302=	ENST00000375281	NM_001003845.2	302	ggC/ggA	0	validated		synonymous	
SH3PXD2B		inserm.fr	GRCh37	5	171777396	171777396	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000311601.5:c.983G>T	p.Arg328Leu	p.R328L	ENST00000311601	NM_001017995.2	328	cGc/cTc	0	validated		possiblydamaging	
USP25		inserm.fr	GRCh37	21	17183517	17183517	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000285679.6:c.919G>A	p.Gly307Arg	p.G307R	ENST00000285679	NM_013396.3	307	Gga/Aga	0	not done		probablydamaging	
DNM3		inserm.fr	GRCh37	1	171956880	171956880	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000358155.4:c.320G>A	p.Arg107His	p.R107H	ENST00000358155	NM_015569.4	107	cGc/cAc	0	not done		possiblydamaging	
NEURL1B		inserm.fr	GRCh37	5	172110896	172110896	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369800.5:c.1052G>A	p.Arg351Gln	p.R351Q	ENST00000369800	NM_001142651.1	351	cGg/cAg	0	not done		probablydamaging	
METTL8		inserm.fr	GRCh37	2	172216985	172216985	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000375258.4:c.182C>T	p.Ala61Val	p.A61V	ENST00000375258	NM_024770.3	61	gCc/gTc	0	not done		probablydamaging	
XYLT1		inserm.fr	GRCh37	16	17228551	17228551	+	synonymous_variant	Silent	SNP	G	A	A			CHC433T																					ENST00000261381.6:c.1806C>T	p.Ala602=	p.A602=	ENST00000261381	NM_022166.3	602	gcC/gcT	0	validated		synonymous	
NCEH1		inserm.fr	GRCh37	3	172365719	172365719	+	synonymous_variant	Silent	SNP	G	A	A			CHC1556T																					ENST00000538775.1:c.420C>T	p.Ser140=	p.S140=	ENST00000538775	NM_001146276.1	140	agC/agT	0	not done		synonymous	
DNM3		inserm.fr	GRCh37	1	172376964	172376964	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC326T																					ENST00000358155.4:c.2575T>A	p.Ser859Thr	p.S859T	ENST00000358155	NM_015569.4	859	Tcc/Acc	0	validated		unknown	
PIGC		inserm.fr	GRCh37	1	172411046	172411046	+	synonymous_variant	Silent	SNP	G	A	A			BCM397T																					ENST00000367728.1:c.717C>T	p.Ala239=	p.A239=	ENST00000367728		239	gcC/gcT	0	validated		synonymous	
SPATA16		inserm.fr	GRCh37	3	172634249	172634249	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC891T																					ENST00000351008.3:c.1361G>T	p.Gly454Val	p.G454V	ENST00000351008	NM_031955.5	454	gGt/gTt	0	not done		probablydamaging	
SLC25A12		inserm.fr	GRCh37	2	172648078	172648078	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1746T																					ENST00000422440.2:c.1468C>T	p.Arg490Ter	p.R490*	ENST00000422440	NM_003705.4	490	Cga/Tga	0	not done		damaging	
CROCC		inserm.fr	GRCh37	1	17264965	17264965	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000375541.5:c.1361G>A	p.Arg454Lys	p.R454K	ENST00000375541	NM_014675.3	454	aGg/aAg	0	not done		possiblydamaging	
NKX2-5		inserm.fr	GRCh37	5	172660117	172660117	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000329198.4:c.430C>T	p.Leu144Phe	p.L144F	ENST00000329198	NM_004387.3	144	Ctc/Ttc	0	not done		probablydamaging	
CROCC		inserm.fr	GRCh37	1	17266586	17266586	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1062T																					ENST00000375541.5:c.1806C>A	p.Ser602Arg	p.S602R	ENST00000375541	NM_014675.3	602	agC/agA	0	validated		possiblydamaging	
STC2		inserm.fr	GRCh37	5	172745217	172745217	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1743T																					ENST00000265087.4:c.542G>T	p.Cys181Phe	p.C181F	ENST00000265087	NM_003714.2	181	tGt/tTt	0	not done		probablydamaging	
STC2		inserm.fr	GRCh37	5	172752925	172752925	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000265087.4:c.240C>T	p.Gly80=	p.G80=	ENST00000265087	NM_003714.2	80	ggC/ggT	0	not done		synonymous	
BASP1		inserm.fr	GRCh37	5	17275721	17275721	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000322611.3:c.396C>A	p.Ser132Arg	p.S132R	ENST00000322611	NM_006317.4	132	agC/agA	0	not done		benign	
VIM		inserm.fr	GRCh37	10	17276802	17276802	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC304T																					ENST00000544301.1:c.993T>A	p.Asp331Glu	p.D331E	ENST00000544301	NM_003380.3	331	gaT/gaA	0	validated		benign	
TBC1D5		inserm.fr	GRCh37	3	17279875	17279875	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1743T																					ENST00000446818.2:c.1368G>T	p.Lys456Asn	p.K456N	ENST00000446818	NM_001134381.1	456	aaG/aaT	0	not done		probablydamaging	
RBM24		inserm.fr	GRCh37	6	17281956	17281956	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000379052.5:c.144G>A	p.Thr48=	p.T48=	ENST00000379052	NM_001143942.1	48	acG/acA	0	not done		synonymous	
ATP13A2		inserm.fr	GRCh37	1	17314861	17314861	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000326735.8:c.2718C>T	p.Phe906=	p.F906=	ENST00000326735		906	ttC/ttT	0	validated		synonymous	
ATP13A2		inserm.fr	GRCh37	1	17314894	17314894	+	synonymous_variant	Silent	SNP	C	A	A			CHC1604T																					ENST00000326735.8:c.2685G>T	p.Leu895=	p.L895=	ENST00000326735		895	ctG/ctT	0	not done		synonymous	
GALNTL6		inserm.fr	GRCh37	4	173150889	173150889	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000506823.1:c.221G>A	p.Ser74Asn	p.S74N	ENST00000506823	NM_001034845.2	74	aGc/aAc	0	not done		possiblydamaging	
NLGN1		inserm.fr	GRCh37	3	173322644	173322644	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T									Valid												ENST00000457714.1:c.256G>A	p.Ala86Thr	p.A86T	ENST00000457714	NM_014932.3	86	Gca/Aca	0	validated		probablydamaging	
LOC401296		inserm.fr	GRCh37	7	1733441	1733441	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000382528.1:c.91C>T	p.Pro31Ser	p.P31S	ENST00000382528		31	Cca/Tca	0	not done			
OCEL1		inserm.fr	GRCh37	19	17339094	17339094	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1741T																					ENST00000215061.4:c.648G>A	p.Trp216Ter	p.W216*	ENST00000215061	NM_024578.1	216	tgG/tgA	0	not done		damaging	
PDK1		inserm.fr	GRCh37	2	173423529	173423529	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1531T																					ENST00000282077.3:c.290T>A	p.Leu97His	p.L97H	ENST00000282077		97	cTt/cAt	0	not done		probablydamaging	
ANKRD45		inserm.fr	GRCh37	1	173628443	173628443	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000333279.2:c.115C>T	p.Leu39Phe	p.L39F	ENST00000333279	NM_198493.2	39	Ctt/Ttt	0	not done		probablydamaging	
AHR		inserm.fr	GRCh37	7	17367470	17367470	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000242057.4:c.448C>A	p.Gln150Lys	p.Q150K	ENST00000242057	NM_001621.4	150	Cag/Aag	0	validated		probablydamaging	
AHR		inserm.fr	GRCh37	7	17374553	17374553	+	synonymous_variant	Silent	SNP	G	A	A			CHC1065T																					ENST00000242057.4:c.951G>A	p.Thr317=	p.T317=	ENST00000242057	NM_001621.4	317	acG/acA	0	validated		synonymous	
MED9		inserm.fr	GRCh37	17	17380381	17380381	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000268711.3:c.26G>A	p.Gly9Glu	p.G9E	ENST00000268711	NM_018019.2	9	gGg/gAg	0	not done		probablydamaging	
MED9		inserm.fr	GRCh37	17	17380411	17380411	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM739T																					ENST00000268711.3:c.56C>A	p.Thr19Lys	p.T19K	ENST00000268711	NM_018019.2	19	aCg/aAg	0	validated		benign	
RAPGEF4		inserm.fr	GRCh37	2	173891969	173891969	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1731T																					ENST00000397081.3:c.2540T>A	p.Phe847Tyr	p.F847Y	ENST00000397081	NM_007023.3	847	tTt/tAt	0	not done		benign	
RAPGEF4		inserm.fr	GRCh37	2	173894950	173894950	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1055T																					ENST00000397081.3:c.2617G>A	p.Val873Ile	p.V873I	ENST00000397081	NM_007023.3	873	Gtt/Att	0	validated		benign	
NLGN1		inserm.fr	GRCh37	3	173998730	173998730	+	synonymous_variant	Silent	SNP	G	A	A			BCM735T																					ENST00000457714.1:c.2109G>A	p.Lys703=	p.K703=	ENST00000457714	NM_014932.3	703	aaG/aaA	0	validated		synonymous	
PADI2		inserm.fr	GRCh37	1	17402297	17402297	+	synonymous_variant	Silent	SNP	G	A	A			CHC313T																					ENST00000375486.4:c.1332C>T	p.Thr444=	p.T444=	ENST00000375486	NM_007365.2	444	acC/acT	0	validated		synonymous	
ZAK		inserm.fr	GRCh37	2	174047662	174047662	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM399T									Valid												ENST00000375213.3:c.328T>A	p.Trp110Arg	p.W110R	ENST00000375213	NM_016653.2	110	Tgg/Agg	0	validated		probablydamaging	
MSX2		inserm.fr	GRCh37	5	174151798	174151798	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000239243.6:c.136C>A	p.Pro46Thr	p.P46T	ENST00000239243	NM_002449.4	46	Ccc/Acc	0	not done		possiblydamaging	
PADI2		inserm.fr	GRCh37	1	17418980	17418980	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000375486.4:c.578G>T	p.Arg193Leu	p.R193L	ENST00000375486	NM_007365.2	193	cGc/cTc	0	not done		benign	
CDCA7		inserm.fr	GRCh37	2	174228018	174228018	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000306721.3:c.449G>A	p.Arg150Lys	p.R150K	ENST00000306721	NM_031942.4	150	aGg/aAg	0	not done		benign	
DDA1		inserm.fr	GRCh37	19	17426795	17426795	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359866.4:c.189G>A	p.Trp63Ter	p.W63*	ENST00000359866	NM_024050.5	63	tgG/tgA	0	not done		damaging	
ANO8		inserm.fr	GRCh37	19	17443831	17443831	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000159087.4:c.494G>T	p.Arg165Leu	p.R165L	ENST00000159087	NM_020959.2	165	cGc/cTc	0	not done		probablydamaging	
ABCC8		inserm.fr	GRCh37	11	17482161	17482161	+	synonymous_variant	Silent	SNP	G	A	A			CHC2128T																					ENST00000389817.3:c.885C>T	p.Phe295=	p.F295=	ENST00000389817		295	ttC/ttT	0	not done		synonymous	
ABCC8		inserm.fr	GRCh37	11	17485084	17485084	+	synonymous_variant	Silent	SNP	G	A	A			CHC1180T																					ENST00000389817.3:c.480C>T	p.His160=	p.H160=	ENST00000389817		160	caC/caT	0	validated		synonymous	
PDGFRL		inserm.fr	GRCh37	8	17491674	17491674	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000541323.1:c.891G>A	p.Gly297=	p.G297=	ENST00000541323	NM_006207.2	297	ggG/ggA	0	not done		synonymous	
SFXN1		inserm.fr	GRCh37	5	174953728	174953728	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000321442.5:c.960G>A	p.Lys320=	p.K320=	ENST00000321442	NM_022754.5	320	aaG/aaA	0	not done		synonymous	
NAALADL2		inserm.fr	GRCh37	3	175042084	175042084	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1602T																					ENST00000454872.1:c.1060G>A	p.Asp354Asn	p.D354N	ENST00000454872	NM_207015.2	354	Gac/Aac	0	not done		possiblydamaging	
TNN		inserm.fr	GRCh37	1	175105030	175105030	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000239462.4:c.3380G>A	p.Arg1127Lys	p.R1127K	ENST00000239462	NM_022093.1	1127	aGg/aAg	0	not done		benign	
HRH2		inserm.fr	GRCh37	5	175111245	175111245	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1531T																					ENST00000377291.2:c.1009G>A	p.Glu337Lys	p.E337K	ENST00000377291	NM_001131055.1	337	Gag/Aag	0	not done		possiblydamaging	
BST2		inserm.fr	GRCh37	19	17516219	17516219	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000252593.6:c.166G>T	p.Gly56Cys	p.G56C	ENST00000252593	NM_004335.2	56	Ggc/Tgc	0	not done		probablydamaging	
SP9		inserm.fr	GRCh37	2	175201177	175201177	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000394967.2:c.364G>A	p.Val122Met	p.V122M	ENST00000394967	NM_001145250.1	122	Gtg/Atg	0	not done		benign	
TNR		inserm.fr	GRCh37	1	175372742	175372742	+	synonymous_variant	Silent	SNP	G	A	A			CHC1715T																					ENST00000367674.2:c.510C>T	p.Asp170=	p.D170=	ENST00000367674		170	gaC/gaT	0	not done		synonymous	
WIPF1		inserm.fr	GRCh37	2	175436914	175436914	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC801T																					ENST00000392547.2:c.619C>T	p.Pro207Ser	p.P207S	ENST00000392547	NM_003387.4	207	Ccc/Tcc	0	not done		probablydamaging	
PADI1		inserm.fr	GRCh37	1	17550189	17550189	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000375471.4:c.346+1G>A		p.X116_splice	ENST00000375471	NM_013358.2			0	not done		damaging	
CHRNA1		inserm.fr	GRCh37	2	175619138	175619138	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1209T																					ENST00000261007.5:c.424G>T	p.Asp142Tyr	p.D142Y	ENST00000261007	NM_001039523.2	142	Gat/Tat	0	not done		probablydamaging	
NXNL1		inserm.fr	GRCh37	19	17566665	17566665	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000301944.2:c.430C>T	p.Leu144=	p.L144=	ENST00000301944	NM_138454.1	144	Ctg/Ttg	0	not done		synonymous	
IL17RA		inserm.fr	GRCh37	22	17584430	17584430	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2034T																					ENST00000319363.6:c.809T>A	p.Leu270Gln	p.L270Q	ENST00000319363	NM_014339.6	270	cTa/cAa	0	not done		probablydamaging	
ADAM29		inserm.fr	GRCh37	4	175898618	175898618	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC451T																					ENST00000359240.3:c.1942T>A	p.Trp648Arg	p.W648R	ENST00000359240	NM_014269.4	648	Tgg/Agg	0	validated		probablydamaging	
PADI3		inserm.fr	GRCh37	1	17596805	17596805	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1052T									Valid												ENST00000375460.3:c.730G>A	p.Gly244Arg	p.G244R	ENST00000375460	NM_016233.2	244	Ggg/Agg	0	validated		probablydamaging	
CDHR2		inserm.fr	GRCh37	5	175995768	175995768	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000510636.1:c.214G>A	p.Val72Ile	p.V72I	ENST00000510636	NM_001171976.1	72	Gtc/Atc	0	not done		possiblydamaging	
CDHR2		inserm.fr	GRCh37	5	176002564	176002564	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC896T																					ENST00000510636.1:c.826G>A	p.Val276Met	p.V276M	ENST00000510636	NM_001171976.1	276	Gtg/Atg	0	validated		probablydamaging	
CECR6		inserm.fr	GRCh37	22	17600872	17600872	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000331437.3:c.1146C>T	p.Pro382=	p.P382=	ENST00000331437	NM_031890.3	382	ccC/ccT	0	not done		synonymous	
CDHR2		inserm.fr	GRCh37	5	176011463	176011463	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC304T									Valid												ENST00000510636.1:c.2181C>A	p.Asn727Lys	p.N727K	ENST00000510636	NM_001171976.1	727	aaC/aaA	0	validated		probablydamaging	
CDHR2		inserm.fr	GRCh37	5	176011873	176011873	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000510636.1:c.2591G>A	p.Gly864Asp	p.G864D	ENST00000510636	NM_001171976.1	864	gGc/gAc	0	not done		benign	
CDHR2		inserm.fr	GRCh37	5	176012958	176012958	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000510636.1:c.2738G>A	p.Ser913Asn	p.S913N	ENST00000510636	NM_001171976.1	913	aGc/aAc	0	not done		benign	
CDHR2		inserm.fr	GRCh37	5	176018274	176018274	+	synonymous_variant	Silent	SNP	G	A	A			CHC2127T																					ENST00000510636.1:c.3603G>A	p.Val1201=	p.V1201=	ENST00000510636	NM_001171976.1	1201	gtG/gtA	0	not done		synonymous	
GPRIN1		inserm.fr	GRCh37	5	176026451	176026451	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000303991.4:c.385C>T	p.Pro129Ser	p.P129S	ENST00000303991	NM_052899.2	129	Cca/Tca	0	not done		benign	
EIF4E1B		inserm.fr	GRCh37	5	176072504	176072504	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1747T																					ENST00000318682.6:c.601G>A	p.Val201Met	p.V201M	ENST00000318682	NM_001099408.1	201	Gtg/Atg	0	not done		probablydamaging	
TSPAN17		inserm.fr	GRCh37	5	176078861	176078861	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000310032.8:c.245G>A	p.Cys82Tyr	p.C82Y	ENST00000310032	NM_012171.2	82	tGc/tAc	0	not done		possiblydamaging	
IQSEC3		inserm.fr	GRCh37	12	176140	176140	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1756T																					ENST00000538872.1:c.92C>A	p.Thr31Asn	p.T31N	ENST00000538872		31	aCc/aAc	0	not done			
OTOG		inserm.fr	GRCh37	11	17615201	17615201	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000399391.2:c.3222G>A	p.Trp1074Ter	p.W1074*	ENST00000399391	NM_001277269.1	1074	tgG/tgA	0	not done		damaging	
CECR5		inserm.fr	GRCh37	22	17622102	17622102	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1595T																					ENST00000336737.4:c.593C>T	p.Pro198Leu	p.P198L	ENST00000336737	NM_033070.2	198	cCg/cTg	0	validated		probablydamaging	
OTOG		inserm.fr	GRCh37	11	17623768	17623768	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000399391.2:c.3757G>A	p.Gly1253Ser	p.G1253S	ENST00000399391	NM_001277269.1	1253	Ggc/Agc	0	not done			
NUP153		inserm.fr	GRCh37	6	17629638	17629638	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1742T																					ENST00000262077.2:c.2792G>T	p.Gly931Val	p.G931V	ENST00000262077	NM_001278210.1	931	gGa/gTa	0	not done		probablydamaging	
OTOG		inserm.fr	GRCh37	11	17630758	17630758	+	splice_donor_variant	Splice_Site	SNP	T	A	A			CHC1028T																					ENST00000399391.2:c.4390+2T>A		p.X1464_splice	ENST00000399391	NM_001277269.1			0	not done		possiblydamaging	
OTOG		inserm.fr	GRCh37	11	17631636	17631636	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000399391.2:c.4825G>A	p.Gly1609Arg	p.G1609R	ENST00000399391	NM_001277269.1	1609	Gga/Aga	0	not done			
FAM129C		inserm.fr	GRCh37	19	17638157	17638157	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000335393.4:c.101G>A	p.Gly34Glu	p.G34E	ENST00000335393	NM_173544.4	34	gGg/gAg	0	not done		probablydamaging	
FAM184B		inserm.fr	GRCh37	4	17649377	17649377	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000265018.3:c.2229C>T	p.Ala743=	p.A743=	ENST00000265018	NM_015688.1	743	gcC/gcT	0	not done		synonymous	
FAM129C		inserm.fr	GRCh37	19	17653000	17653000	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC197T									Valid												ENST00000335393.4:c.1319G>A	p.Arg440His	p.R440H	ENST00000335393	NM_173544.4	440	cGt/cAt	0	validated		probablydamaging	
NSD1		inserm.fr	GRCh37	5	176631176	176631176	+	synonymous_variant	Silent	SNP	T	A	A			CHC2113T																					ENST00000439151.2:c.1119T>A	p.Ser373=	p.S373=	ENST00000439151	NM_022455.4	373	tcT/tcA	0	not done		synonymous	
PAPPA2		inserm.fr	GRCh37	1	176664968	176664968	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000367662.3:c.2719G>A	p.Gly907Ser	p.G907S	ENST00000367662	NM_020318.2	907	Ggt/Agt	0	not done		probablydamaging	
OTOG		inserm.fr	GRCh37	11	17667132	17667132	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000399391.2:c.8519G>A	p.Cys2840Tyr	p.C2840Y	ENST00000399391	NM_001277269.1	2840	tGc/tAc	0	not done			
PADI4		inserm.fr	GRCh37	1	17668871	17668871	+	synonymous_variant	Silent	SNP	G	A	A			CHC2098T																					ENST00000375448.4:c.909G>A	p.Gln303=	p.Q303=	ENST00000375448	NM_012387.2	303	caG/caA	0	not done		synonymous	
PAPPA2		inserm.fr	GRCh37	1	176734830	176734830	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1055T																					ENST00000367662.3:c.4180G>A	p.Asp1394Asn	p.D1394N	ENST00000367662	NM_020318.2	1394	Gac/Aac	0	validated		benign	
PAPPA2		inserm.fr	GRCh37	1	176738745	176738745	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000367662.3:c.4326G>A	p.Lys1442=	p.K1442=	ENST00000367662	NM_020318.2	1442	aaG/aaA	0	not done		synonymous	
TBL1XR1		inserm.fr	GRCh37	3	176755903	176755903	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1756T																					ENST00000430069.1:c.1105G>T	p.Asp369Tyr	p.D369Y	ENST00000430069		369	Gac/Tac	0	validated		probablydamaging	
PAPPA2		inserm.fr	GRCh37	1	176760587	176760587	+	synonymous_variant	Silent	SNP	G	A	A			CHC1763T																					ENST00000367662.3:c.4989G>A	p.Val1663=	p.V1663=	ENST00000367662	NM_020318.2	1663	gtG/gtA	0	not done		synonymous	
LMAN2		inserm.fr	GRCh37	5	176761291	176761291	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000303127.7:c.904C>T	p.Pro302Ser	p.P302S	ENST00000303127	NM_006816.2	302	Ccc/Tcc	0	not done		probablydamaging	
TBL1XR1		inserm.fr	GRCh37	3	176771623	176771623	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000430069.1:c.142G>T	p.Ala48Ser	p.A48S	ENST00000430069		48	Gca/Tca	0	not done		probablydamaging	
SLC34A1		inserm.fr	GRCh37	5	176813278	176813278	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T																					ENST00000324417.5:c.316C>A	p.Leu106Met	p.L106M	ENST00000324417	NM_003052.4	106	Ctg/Atg	0	validated		benign	
F12		inserm.fr	GRCh37	5	176830578	176830578	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T									Valid												ENST00000253496.3:c.1291C>T	p.Arg431Cys	p.R431C	ENST00000253496	NM_000505.3	431	Cgc/Tgc	0	validated		probablydamaging	
ASTN1		inserm.fr	GRCh37	1	176863808	176863808	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000361833.2:c.2830C>T	p.Pro944Ser	p.P944S	ENST00000361833		944	Ccc/Tcc	0	not done		possiblydamaging	
DBN1		inserm.fr	GRCh37	5	176894599	176894599	+	synonymous_variant	Silent	SNP	G	A	A			CHC1712T																					ENST00000292385.5:c.366C>T	p.Ser122=	p.S122=	ENST00000292385	NM_080881.2	122	agC/agT	0	not done		synonymous	
CECR1		inserm.fr	GRCh37	22	17690270	17690270	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC322T									Valid												ENST00000399839.1:c.298A>T	p.Asn100Tyr	p.N100Y	ENST00000399839	NM_001282228.1	100	Aat/Tat	0	validated		probablydamaging	
ASTN1		inserm.fr	GRCh37	1	176903474	176903474	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			BCM531T																					ENST00000361833.2:c.2485C>T	p.Leu829Phe	p.L829F	ENST00000361833		829	Ctc/Ttc	0	validated		benign	
DOK3		inserm.fr	GRCh37	5	176932099	176932099	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000357198.4:c.553G>T	p.Ala185Ser	p.A185S	ENST00000357198	NM_024872.2	185	Gcc/Tcc	0	not done		benign	
DDX41		inserm.fr	GRCh37	5	176941936	176941936	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC917T																					ENST00000507955.1:c.779G>T	p.Gly260Val	p.G260V	ENST00000507955	NM_016222.2	260	gGa/gTa	0	validated		probablydamaging	
EVX2		inserm.fr	GRCh37	2	176948220	176948220	+	synonymous_variant	Silent	SNP	G	A	A			CHC2103T																					ENST00000308618.4:c.285C>T	p.Ala95=	p.A95=	ENST00000308618	NM_001080458.1	95	gcC/gcT	0	not done		synonymous	
HOXD13		inserm.fr	GRCh37	2	176958108	176958108	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC433T																					ENST00000392539.3:c.490G>A	p.Val164Met	p.V164M	ENST00000392539	NM_000523.3	164	Gtg/Atg	0	validated		possiblydamaging	
RAD51AP2		inserm.fr	GRCh37	2	17698119	17698119	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1061T									Valid												ENST00000399080.2:c.1564G>T	p.Gly522Ter	p.G522*	ENST00000399080	NM_001099218.2	522	Gga/Tga	0	validated		damaging	
RAI1		inserm.fr	GRCh37	17	17698154	17698154	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000353383.1:c.1892G>A	p.Ser631Asn	p.S631N	ENST00000353383	NM_030665.3	631	aGc/aAc	0	not done		benign	
HOXD10		inserm.fr	GRCh37	2	176981864	176981864	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1079T																					ENST00000249501.4:c.303C>A	p.Cys101Ter	p.C101*	ENST00000249501	NM_002148.3	101	tgC/tgA	0	not done		damaging	
HOXD10		inserm.fr	GRCh37	2	176982222	176982222	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000249501.4:c.661G>A	p.Ala221Thr	p.A221T	ENST00000249501	NM_002148.3	221	Gcc/Acc	0	not done		benign	
HOXD10		inserm.fr	GRCh37	2	176983886	176983886	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000249501.4:c.950G>A	p.Arg317His	p.R317H	ENST00000249501	NM_002148.3	317	cGc/cAc	0	not done		probablydamaging	
ASTN1		inserm.fr	GRCh37	1	176993858	176993858	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000361833.2:c.1131C>T	p.Pro377=	p.P377=	ENST00000361833		377	ccC/ccT	0	not done		synonymous	
PADI6		inserm.fr	GRCh37	1	17699568	17699568	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000434762.2:n.184G>A		*62*	ENST00000434762				0	not done		probablydamaging	
ASTN1		inserm.fr	GRCh37	1	177001930	177001930	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000361833.2:c.527C>T	p.Thr176Ile	p.T176I	ENST00000361833		176	aCt/aTt	0	not done		probablydamaging	
HOXD4		inserm.fr	GRCh37	2	177016504	177016504	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1207T																					ENST00000306324.3:c.143C>A	p.Pro48His	p.P48H	ENST00000306324	NM_014621.2	48	cCc/cAc	0	not done		benign	
HOXD4		inserm.fr	GRCh37	2	177017378	177017378	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1209T																					ENST00000306324.3:c.476C>A	p.Thr159Lys	p.T159K	ENST00000306324	NM_014621.2	159	aCg/aAg	0	not done		probablydamaging	
B4GALT7		inserm.fr	GRCh37	5	177031297	177031297	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM371T																					ENST00000029410.5:c.168C>A	p.Asp56Glu	p.D56E	ENST00000029410	NM_007255.2	56	gaC/gaA	0	validated		benign	
HOXD3		inserm.fr	GRCh37	2	177033977	177033977	+	synonymous_variant	Silent	SNP	C	A	A			BCM265T																					ENST00000468418.3:c.135C>A	p.Thr45=	p.T45=	ENST00000468418		45	acC/acA	0	validated		synonymous	
WDR17		inserm.fr	GRCh37	4	177037056	177037056	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1545T																					ENST00000280190.4:c.305G>A	p.Gly102Asp	p.G102D	ENST00000280190		102	gGc/gAc	0	validated		possiblydamaging	
SPATA4		inserm.fr	GRCh37	4	177113990	177113990	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC912T									Valid												ENST00000280191.2:c.476G>T	p.Ser159Ile	p.S159I	ENST00000280191	NM_144644.2	159	aGt/aTt	0	validated		probablydamaging	
ASTN1		inserm.fr	GRCh37	1	177133767	177133767	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2115T																					ENST00000361833.2:c.46C>T	p.Pro16Ser	p.P16S	ENST00000361833		16	Ccg/Tcg	0	not done		benign	
SREBF1		inserm.fr	GRCh37	17	17718633	17718633	+	synonymous_variant	Silent	SNP	C	A	A			CHC433T																					ENST00000355815.4:c.2484G>T	p.Leu828=	p.L828=	ENST00000355815	NM_001005291.2	828	ctG/ctT	0	validated		synonymous	
FAM5B		inserm.fr	GRCh37	1	177242694	177242694	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC892T																					ENST00000361539.4:c.740T>A	p.Leu247Ter	p.L247*	ENST00000361539	NM_021165.2	247	tTg/tAg	0	not done		damaging	
NHS		inserm.fr	GRCh37	X	17739568	17739568	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM257T																					ENST00000380060.3:c.860C>A	p.Pro287His	p.P287H	ENST00000380060	NM_198270.2	287	cCc/cAc	0	validated		probablydamaging	
PROP1		inserm.fr	GRCh37	5	177421236	177421236	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000308304.2:c.213C>T	p.Arg71=	p.R71=	ENST00000308304	NM_006261.4	71	cgC/cgT	0	not done		synonymous	
MYOD1		inserm.fr	GRCh37	11	17742938	17742938	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000250003.3:c.846G>A	p.Arg282=	p.R282=	ENST00000250003	NM_002478.4	282	agG/agA	0	not done		synonymous	
RCC2		inserm.fr	GRCh37	1	17748707	17748707	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1065T																					ENST00000375436.4:c.736C>T	p.Pro246Ser	p.P246S	ENST00000375436	NM_018715.3	246	Ccc/Tcc	0	validated		probablydamaging	
STAM		inserm.fr	GRCh37	10	17750833	17750833	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000377524.3:c.1268G>A	p.Ser423Asn	p.S423N	ENST00000377524	NM_003473.3	423	aGc/aAc	0	not done		benign	
ONECUT3		inserm.fr	GRCh37	19	1775375	1775375	+	synonymous_variant	Silent	SNP	C	A	A			CHC432T																					ENST00000382349.4:c.1416C>A	p.Arg472=	p.R472=	ENST00000382349	NM_001080488.1	472	cgC/cgA	0	validated		synonymous	
N4BP3		inserm.fr	GRCh37	5	177547227	177547227	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000274605.5:c.379G>A	p.Gly127Ser	p.G127S	ENST00000274605	NM_015111.1	127	Ggc/Agc	0	not done		benign	
UNC13A		inserm.fr	GRCh37	19	17758177	17758177	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1747T																					ENST00000519716.2:c.1941G>T	p.Glu647Asp	p.E647D	ENST00000519716	NM_001080421.2	647	gaG/gaT	0	not done		benign	
RCC2		inserm.fr	GRCh37	1	17764795	17764795	+	synonymous_variant	Silent	SNP	C	A	A			CHC2048T																					ENST00000375436.4:c.216G>T	p.Pro72=	p.P72=	ENST00000375436	NM_018715.3	72	ccG/ccT	0	validated		synonymous	
VEGFC		inserm.fr	GRCh37	4	177649117	177649117	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1568T																					ENST00000280193.2:c.367G>T	p.Asp123Tyr	p.D123Y	ENST00000280193	NM_005429.3	123	Gat/Tat	0	not done		probablydamaging	
COL23A1		inserm.fr	GRCh37	5	177666159	177666159	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000390654.3:c.1603C>T	p.Pro535Ser	p.P535S	ENST00000390654	NM_173465.3	535	Cct/Tct	0	not done		benign	
COL23A1		inserm.fr	GRCh37	5	177683391	177683391	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000390654.3:c.845C>T	p.Pro282Leu	p.P282L	ENST00000390654	NM_173465.3	282	cCt/cTt	0	not done		probablydamaging	
UNC13A		inserm.fr	GRCh37	19	17774376	17774376	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000519716.2:c.524G>T	p.Cys175Phe	p.C175F	ENST00000519716	NM_001080421.2	175	tGc/tTc	0	not done		possiblydamaging	
UNC13A		inserm.fr	GRCh37	19	17780456	17780456	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000519716.2:c.300C>T	p.Asp100=	p.D100=	ENST00000519716	NM_001080421.2	100	gaC/gaT	0	not done		synonymous	
SEC16B		inserm.fr	GRCh37	1	177911091	177911091	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000308284.6:c.1966G>T	p.Ala656Ser	p.A656S	ENST00000308284	NM_033127.2	656	Gct/Tct	0	not done		probablydamaging	
SEC16B		inserm.fr	GRCh37	1	177915617	177915617	+	synonymous_variant	Silent	SNP	G	A	A			CHC1053T																					ENST00000308284.6:c.1713C>T	p.His571=	p.H571=	ENST00000308284	NM_033127.2	571	caC/caT	0	validated		synonymous	
SEC16B		inserm.fr	GRCh37	1	177933332	177933332	+	synonymous_variant	Silent	SNP	G	A	A			CHC1083T																					ENST00000308284.6:c.616C>T	p.Leu206=	p.L206=	ENST00000308284	NM_033127.2	206	Ctg/Ttg	0	validated		synonymous	
NFE2L2		inserm.fr	GRCh37	2	178098806	178098806	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM321T																					ENST00000397062.3:c.239C>T	p.Thr80Ile	p.T80I	ENST00000397062	NM_006164.4	80	aCa/aTa	0	validated		probablydamaging	
ZNF354A		inserm.fr	GRCh37	5	178139128	178139128	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000335815.2:c.1751G>T	p.Gly584Val	p.G584V	ENST00000335815	NM_005649.2	584	gGg/gTg	0	not done		probablydamaging	
RAI2		inserm.fr	GRCh37	X	17819612	17819612	+	synonymous_variant	Silent	SNP	G	A	A			CHC2039Tbis																					ENST00000545871.1:c.519C>T	p.Ile173=	p.I173=	ENST00000545871	NM_001172739.1	173	atC/atT	0	validated		synonymous	
ZFP2		inserm.fr	GRCh37	5	178358529	178358529	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000361362.2:c.215G>A	p.Arg72Lys	p.R72K	ENST00000361362	NM_030613.2	72	aGg/aAg	0	not done		benign	
MAP1S		inserm.fr	GRCh37	19	17836837	17836837	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1626T																					ENST00000324096.4:c.644C>A	p.Ala215Asp	p.A215D	ENST00000324096	NM_018174.4	215	gCt/gAt	0	not done		possiblydamaging	
MAP1S		inserm.fr	GRCh37	19	17837316	17837316	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000324096.4:c.1123G>A	p.Gly375Ser	p.G375S	ENST00000324096	NM_018174.4	375	Ggc/Agc	0	not done		benign	
GRM6		inserm.fr	GRCh37	5	178417628	178417628	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000231188.5:c.977C>T	p.Ala326Val	p.A326V	ENST00000231188	NM_000843.3	326	gCc/gTc	0	not done		possiblydamaging	
GRM6		inserm.fr	GRCh37	5	178421588	178421588	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000231188.5:c.358C>T	p.Arg120Cys	p.R120C	ENST00000231188	NM_000843.3	120	Cgc/Tgc	0	not done		benign	
ZNF879		inserm.fr	GRCh37	5	178460178	178460178	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000444149.2:c.1229G>A	p.Ser410Asn	p.S410N	ENST00000444149	NM_001136116.1	410	aGc/aAc	0	not done		possiblydamaging	
ZNF879		inserm.fr	GRCh37	5	178460557	178460557	+	synonymous_variant	Silent	SNP	G	A	A			CHC2098T																					ENST00000444149.2:c.1608G>A	p.Gly536=	p.G536=	ENST00000444149	NM_001136116.1	536	ggG/ggA	0	not done		synonymous	
ELFN1		inserm.fr	GRCh37	7	1785028	1785028	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000424383.2:c.796G>A	p.Ala266Thr	p.A266T	ENST00000424383		266	Gca/Aca	0	not done		benign	
ZNF354C		inserm.fr	GRCh37	5	178503491	178503491	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM543T																					ENST00000315475.6:c.73G>A	p.Glu25Lys	p.E25K	ENST00000315475	NM_014594.1	25	Gag/Aag	0	validated		probablydamaging	
ELFN1		inserm.fr	GRCh37	7	1786294	1786294	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1754T																					ENST00000424383.2:c.2062G>A	p.Ala688Thr	p.A688T	ENST00000424383		688	Gcc/Acc	0	not done		benign	
ADAMTS2		inserm.fr	GRCh37	5	178771008	178771008	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000251582.7:c.294C>T	p.Pro98=	p.P98=	ENST00000251582	NM_014244.4	98	ccC/ccT	0	validated		synonymous	
LOC285501		inserm.fr	GRCh37	4	178882060	178882060	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000507870.1:c.56+1G>A		p.X19_splice	ENST00000507870				0	not done		damaging	
PIK3CA		inserm.fr	GRCh37	3	178936091	178936091	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1595T									Valid												ENST00000263967.3:c.1633G>A	p.Glu545Lys	p.E545K	ENST00000263967	NM_006218.2	545	Gag/Aag	0	validated		probablydamaging	
RBM45		inserm.fr	GRCh37	2	178988611	178988611	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000286070.5:c.1040G>A	p.Trp347Ter	p.W347*	ENST00000286070	NM_152945.2	347	tGg/tAg	0	not done		damaging	
ABL2		inserm.fr	GRCh37	1	179086551	179086551	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2111T																					ENST00000502732.1:c.1324C>T	p.His442Tyr	p.H442Y	ENST00000502732	NM_001168237.1	442	Cat/Tat	0	not done		probablydamaging	
SNX13		inserm.fr	GRCh37	7	17915141	17915141	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000428135.3:c.626G>T	p.Cys209Phe	p.C209F	ENST00000428135	NM_015132.4	209	tGc/tTc	0	not done		probablydamaging	
B3GNT3		inserm.fr	GRCh37	19	17918662	17918662	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000318683.6:c.46G>A	p.Ala16Thr	p.A16T	ENST00000318683	NM_014256.3	16	Gcc/Acc	0	not done		possiblydamaging	
MAML1		inserm.fr	GRCh37	5	179201522	179201522	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1185T																					ENST00000292599.3:c.2695G>A	p.Val899Met	p.V899M	ENST00000292599	NM_014757.4	899	Gtg/Atg	0	not done		benign	
ATP8B3		inserm.fr	GRCh37	19	1792111	1792111	+	synonymous_variant	Silent	SNP	C	A	A			CHC961T																					ENST00000310127.6:c.2079G>T	p.Arg693=	p.R693=	ENST00000310127	NM_138813.3	693	cgG/cgT	0	validated		synonymous	
OSBPL6		inserm.fr	GRCh37	2	179247776	179247776	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000392505.2:c.1722G>A	p.Gly574=	p.G574=	ENST00000392505	NM_001201480.1	574	ggG/ggA	0	not done		synonymous	
OSBPL6		inserm.fr	GRCh37	2	179255838	179255838	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000392505.2:c.2415G>A	p.Gly805=	p.G805=	ENST00000392505	NM_001201480.1	805	ggG/ggA	0	not done		synonymous	
SQSTM1		inserm.fr	GRCh37	5	179260586	179260586	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC1055T									Valid												ENST00000389805.4:c.970-1G>A		p.X324_splice	ENST00000389805	NM_003900.4			0	validated		damaging	
TBC1D9B		inserm.fr	GRCh37	5	179290788	179290788	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM397T																					ENST00000356834.3:c.3413C>T	p.Ser1138Leu	p.S1138L	ENST00000356834	NM_198868.2	1138	tCa/tTa	0	validated		possiblydamaging	
SOAT1		inserm.fr	GRCh37	1	179319536	179319536	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000367619.3:c.1420G>A	p.Val474Met	p.V474M	ENST00000367619	NM_003101.5	474	Gtg/Atg	0	not done		probablydamaging	
FKBP7		inserm.fr	GRCh37	2	179330562	179330562	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2048T																					ENST00000424785.2:c.604G>T	p.Asp202Tyr	p.D202Y	ENST00000424785	NM_001135212.1	202	Gac/Tac	0	not done		probablydamaging	
NDUFB5		inserm.fr	GRCh37	3	179341746	179341746	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000259037.3:c.488G>A	p.Arg163Lys	p.R163K	ENST00000259037	NM_002492.3	163	aGa/aAa	0	not done		benign	
AXDND1		inserm.fr	GRCh37	1	179364329	179364329	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000367618.3:c.1101G>A	p.Lys367=	p.K367=	ENST00000367618	NM_144696.5	367	aaG/aaA	0	not done		synonymous	
TTN		inserm.fr	GRCh37	2	179395781	179395781	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1738T																					ENST00000589042.1:c.105561G>T	p.Glu35187Asp	p.E35187D	ENST00000589042	NM_001267550.1	35187	gaG/gaT	0	not done		possiblydamaging	
TTN		inserm.fr	GRCh37	2	179398050	179398050	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000589042.1:c.103292C>T	p.Thr34431Met	p.T34431M	ENST00000589042	NM_001267550.1	34431	aCg/aTg	0	not done		probablydamaging	
TTN		inserm.fr	GRCh37	2	179398305	179398305	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000589042.1:c.103037C>T	p.Ala34346Val	p.A34346V	ENST00000589042	NM_001267550.1	34346	gCa/gTa	0	not done		probablydamaging	
TTN		inserm.fr	GRCh37	2	179403905	179403905	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000589042.1:c.98757C>T	p.Ser32919=	p.S32919=	ENST00000589042	NM_001267550.1	32919	tcC/tcT	0	not done		synonymous	
TTN		inserm.fr	GRCh37	2	179408605	179408605	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1592T																					ENST00000589042.1:c.96266A>T	p.Asn32089Ile	p.N32089I	ENST00000589042	NM_001267550.1	32089	aAc/aTc	0	not done		probablydamaging	
TTN		inserm.fr	GRCh37	2	179411567	179411567	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000589042.1:c.94588C>T	p.Pro31530Ser	p.P31530S	ENST00000589042	NM_001267550.1	31530	Cca/Tca	0	not done		probablydamaging	
TTN		inserm.fr	GRCh37	2	179413836	179413836	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000589042.1:c.92517C>T	p.Ser30839=	p.S30839=	ENST00000589042	NM_001267550.1	30839	agC/agT	0	not done		synonymous	
TTN		inserm.fr	GRCh37	2	179414452	179414452	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000589042.1:c.91997C>T	p.Ala30666Val	p.A30666V	ENST00000589042	NM_001267550.1	30666	gCc/gTc	0	not done		benign	
TTN		inserm.fr	GRCh37	2	179426677	179426677	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000589042.1:c.84182C>T	p.Pro28061Leu	p.P28061L	ENST00000589042	NM_001267550.1	28061	cCt/cTt	0	not done		benign	
TTN		inserm.fr	GRCh37	2	179427247	179427247	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000589042.1:c.83612C>T	p.Thr27871Ile	p.T27871I	ENST00000589042	NM_001267550.1	27871	aCt/aTt	0	not done		benign	
TTN		inserm.fr	GRCh37	2	179427787	179427787	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000589042.1:c.83072C>T	p.Ala27691Val	p.A27691V	ENST00000589042	NM_001267550.1	27691	gCt/gTt	0	not done		benign	
TTN		inserm.fr	GRCh37	2	179434759	179434759	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC155T																					ENST00000589042.1:c.76100C>T	p.Thr25367Ile	p.T25367I	ENST00000589042	NM_001267550.1	25367	aCt/aTt	0	validated		probablydamaging	
TTN		inserm.fr	GRCh37	2	179440392	179440392	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000589042.1:c.70467C>T	p.Cys23489=	p.C23489=	ENST00000589042	NM_001267550.1	23489	tgC/tgT	0	not done		synonymous	
TTN		inserm.fr	GRCh37	2	179446365	179446365	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC258T																					ENST00000589042.1:c.66630G>T	p.Gln22210His	p.Q22210H	ENST00000589042	NM_001267550.1	22210	caG/caT	0	validated		probablydamaging	
TTN		inserm.fr	GRCh37	2	179449637	179449637	+	synonymous_variant	Silent	SNP	G	A	A			BCM567T																					ENST00000589042.1:c.64731C>T	p.Cys21577=	p.C21577=	ENST00000589042	NM_001267550.1	21577	tgC/tgT	0	validated		synonymous	
TTN		inserm.fr	GRCh37	2	179452070	179452070	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000589042.1:c.63868C>T	p.Pro21290Ser	p.P21290S	ENST00000589042	NM_001267550.1	21290	Cct/Tct	0	not done		probablydamaging	
TTN		inserm.fr	GRCh37	2	179452669	179452669	+	synonymous_variant	Silent	SNP	G	A	A			CHC1708T																					ENST00000589042.1:c.63465C>T	p.Arg21155=	p.R21155=	ENST00000589042	NM_001267550.1	21155	cgC/cgT	0	not done		synonymous	
TTN		inserm.fr	GRCh37	2	179455786	179455786	+	synonymous_variant	Silent	SNP	G	A	A			CHC2200T																					ENST00000589042.1:c.60666C>T	p.Val20222=	p.V20222=	ENST00000589042	NM_001267550.1	20222	gtC/gtT	0	not done		synonymous	
JAK3		inserm.fr	GRCh37	19	17945999	17945999	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC793T									Valid												ENST00000458235.1:c.1940A>T	p.Asn647Ile	p.N647I	ENST00000458235	NM_000215.3	647	aAt/aTt	0	validated		probablydamaging	
USP13		inserm.fr	GRCh37	3	179460126	179460126	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM337T																					ENST00000263966.3:c.1522G>A	p.Ala508Thr	p.A508T	ENST00000263966	NM_003940.2	508	Gca/Aca	0	validated		probablydamaging	
TTN		inserm.fr	GRCh37	2	179460319	179460319	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000589042.1:c.57762C>T	p.Tyr19254=	p.Y19254=	ENST00000589042	NM_001267550.1	19254	taC/taT	0	not done		synonymous	
TTN		inserm.fr	GRCh37	2	179464488	179464488	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000589042.1:c.56140C>T	p.Pro18714Ser	p.P18714S	ENST00000589042	NM_001267550.1	18714	Ccg/Tcg	0	not done		probablydamaging	
TTN		inserm.fr	GRCh37	2	179465824	179465824	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000589042.1:c.55807C>T	p.Pro18603Ser	p.P18603S	ENST00000589042	NM_001267550.1	18603	Ccg/Tcg	0	not done		benign	
USP13		inserm.fr	GRCh37	3	179472623	179472623	+	synonymous_variant	Silent	SNP	C	A	A			CHC1061T																					ENST00000263966.3:c.1902C>A	p.Val634=	p.V634=	ENST00000263966	NM_003940.2	634	gtC/gtA	0	validated		synonymous	
TTN		inserm.fr	GRCh37	2	179482699	179482699	+	synonymous_variant	Silent	SNP	G	A	A			CHC1738T																					ENST00000589042.1:c.47379C>T	p.Tyr15793=	p.Y15793=	ENST00000589042	NM_001267550.1	15793	taC/taT	0	not done		synonymous	
TTN		inserm.fr	GRCh37	2	179485863	179485863	+	synonymous_variant	Silent	SNP	C	A	A			CHC2099T																					ENST00000589042.1:c.45582G>T	p.Gly15194=	p.G15194=	ENST00000589042	NM_001267550.1	15194	ggG/ggT	0	not done		synonymous	
USP13		inserm.fr	GRCh37	3	179499534	179499534	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000263966.3:c.2421G>A	p.Glu807=	p.E807=	ENST00000263966	NM_003940.2	807	gaG/gaA	0	not done		synonymous	
TTN		inserm.fr	GRCh37	2	179509305	179509305	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1629T																					ENST00000589042.1:c.40447C>T	p.Pro13483Ser	p.P13483S	ENST00000589042	NM_001267550.1	13483	Cca/Tca	0	not done		benign	
NPHS2		inserm.fr	GRCh37	1	179520555	179520555	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1751T																					ENST00000367615.4:c.905C>T	p.Ser302Phe	p.S302F	ENST00000367615	NM_014625.2	302	tCt/tTt	0	not done		probablydamaging	
JAK3		inserm.fr	GRCh37	19	17953223	17953223	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000458235.1:c.763C>T	p.His255Tyr	p.H255Y	ENST00000458235	NM_000215.3	255	Cac/Tac	0	not done		benign	
JAK3		inserm.fr	GRCh37	19	17953888	17953888	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000458235.1:c.514C>T	p.Arg172Trp	p.R172W	ENST00000458235	NM_000215.3	172	Cgg/Tgg	0	not done		probablydamaging	
RASGEF1C		inserm.fr	GRCh37	5	179563473	179563473	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000393371.2:c.343G>T	p.Ala115Ser	p.A115S	ENST00000393371		115	Gcc/Tcc	0	not done		benign	
TTN		inserm.fr	GRCh37	2	179575380	179575380	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1079T																					ENST00000589042.1:c.28444G>T	p.Ala9482Ser	p.A9482S	ENST00000589042	NM_001267550.1	9482	Gct/Tct	0	validated		benign	
TTN		inserm.fr	GRCh37	2	179575456	179575456	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000589042.1:c.28368C>T	p.Val9456=	p.V9456=	ENST00000589042	NM_001267550.1	9456	gtC/gtT	0	not done		synonymous	
TTN		inserm.fr	GRCh37	2	179604985	179604985	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000589042.1:c.12975C>T	p.Gly4325=	p.G4325=	ENST00000589042	NM_001267550.1	4325	ggC/ggT	0	not done		synonymous	
TTN		inserm.fr	GRCh37	2	179612102	179612102	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000589042.1:c.11312-5454C>T		*3771*	ENST00000589042	NM_001267550.1			0	not done			
TTN		inserm.fr	GRCh37	2	179613599	179613599	+	intron_variant	Intron	SNP	T	A	A			CHC433T																					ENST00000589042.1:c.11311+4252A>T		*3771*	ENST00000589042	NM_001267550.1			0	validated			
TTN		inserm.fr	GRCh37	2	179616409	179616409	+	intron_variant	Intron	SNP	C	A	A			CHC2052T																					ENST00000589042.1:c.11311+1442G>T		*3771*	ENST00000589042	NM_001267550.1			0	not done			
GEN1		inserm.fr	GRCh37	2	17961923	17961923	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1035T									Valid												ENST00000381254.2:c.1444G>A	p.Asp482Asn	p.D482N	ENST00000381254	NM_001130009.1	482	Gat/Aat	0	validated		possiblydamaging	
TDRD5		inserm.fr	GRCh37	1	179620156	179620156	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1182T																					ENST00000444136.1:c.1955G>A	p.Arg652Lys	p.R652K	ENST00000444136	NM_001199089.1	652	aGa/aAa	0	not done		benign	
GID4		inserm.fr	GRCh37	17	17962183	17962183	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000268719.4:c.608G>A	p.Gly203Asp	p.G203D	ENST00000268719	NM_024052.4	203	gGc/gAc	0	not done		possiblydamaging	
TTN		inserm.fr	GRCh37	2	179623870	179623870	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC433T									Valid												ENST00000589042.1:c.10144A>T	p.Lys3382Ter	p.K3382*	ENST00000589042	NM_001267550.1	3382	Aag/Tag	0	validated		damaging	
TTN		inserm.fr	GRCh37	2	179641088	179641088	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000589042.1:c.5503C>T	p.Gln1835Ter	p.Q1835*	ENST00000589042	NM_001267550.1	1835	Cag/Tag	0	not done		damaging	
TTN		inserm.fr	GRCh37	2	179665202	179665202	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000589042.1:c.503C>T	p.Pro168Leu	p.P168L	ENST00000589042	NM_001267550.1	168	cCt/cTt	0	not done		probablydamaging	
GFPT2		inserm.fr	GRCh37	5	179743456	179743456	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000253778.8:c.1158G>T	p.Arg386=	p.R386=	ENST00000253778	NM_005110.2	386	cgG/cgT	0	not done		synonymous	
GFPT2		inserm.fr	GRCh37	5	179751837	179751837	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC703T																					ENST00000253778.8:c.655A>T	p.Ile219Phe	p.I219F	ENST00000253778	NM_005110.2	219	Atc/Ttc	0	validated		benign	
TOR1AIP2		inserm.fr	GRCh37	1	179820213	179820213	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1756T																					ENST00000367612.3:c.320A>T	p.Asn107Ile	p.N107I	ENST00000367612	NM_145034.4	107	aAt/aTt	0	not done		probablydamaging	
CECR2		inserm.fr	GRCh37	22	17982158	17982158	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC155T																					ENST00000262608.8:c.572G>A	p.Arg191Lys	p.R191K	ENST00000262608	NM_031413.3	191	aGa/aAa	0	validated		benign	
CCDC141		inserm.fr	GRCh37	2	179826202	179826202	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1595T									Valid												ENST00000420890.2:c.535G>T	p.Glu179Ter	p.E179*	ENST00000420890	NM_173648.3	179	Gaa/Taa	0	validated		damaging	
CCDC141		inserm.fr	GRCh37	2	179843378	179843378	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000420890.2:c.250C>T	p.Leu84Phe	p.L84F	ENST00000420890	NM_173648.3	84	Ctc/Ttc	0	not done		probablydamaging	
SLC5A5		inserm.fr	GRCh37	19	17988897	17988897	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000222248.3:c.964G>A	p.Asp322Asn	p.D322N	ENST00000222248	NM_000453.2	322	Gac/Aac	0	not done		probablydamaging	
ARHGEF10L		inserm.fr	GRCh37	1	17990978	17990978	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2103T																					ENST00000361221.3:c.2897G>A	p.Cys966Tyr	p.C966Y	ENST00000361221	NM_018125.3	966	tGc/tAc	0	not done		benign	
SLC5A5		inserm.fr	GRCh37	19	17992857	17992857	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000222248.3:c.1147C>A	p.Leu383Ile	p.L383I	ENST00000222248	NM_000453.2	383	Ctc/Atc	0	not done		benign	
FLT4		inserm.fr	GRCh37	5	180043376	180043376	+	synonymous_variant	Silent	SNP	G	A	A			CHC433T																					ENST00000261937.6:c.3210C>T	p.Arg1070=	p.R1070=	ENST00000261937	NM_182925.4	1070	cgC/cgT	0	validated		synonymous	
FLT4		inserm.fr	GRCh37	5	180045868	180045868	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC155T																					ENST00000261937.6:c.2903G>T	p.Arg968Met	p.R968M	ENST00000261937	NM_182925.4	968	aGg/aTg	0	validated		benign	
FLT4		inserm.fr	GRCh37	5	180047310	180047310	+	splice_acceptor_variant	Splice_Site	SNP	T	A	A			CHC433T									Valid												ENST00000261937.6:c.2407-2A>T		p.X803_splice	ENST00000261937	NM_182925.4			0	validated		damaging	
FLT4		inserm.fr	GRCh37	5	180048797	180048797	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1616T																					ENST00000261937.6:c.1765C>T	p.Arg589Cys	p.R589C	ENST00000261937	NM_182925.4	589	Cgc/Tgc	0	not done		probablydamaging	
FLT4		inserm.fr	GRCh37	5	180056428	180056428	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC1741T																					ENST00000261937.6:c.817-1G>T		p.X273_splice	ENST00000261937	NM_182925.4			0	not done		damaging	
QSOX1		inserm.fr	GRCh37	1	180124138	180124138	+	synonymous_variant	Silent	SNP	G	A	A			CHC1591T																					ENST00000367602.3:c.96G>A	p.Arg32=	p.R32=	ENST00000367602		32	cgG/cgA	0	not done		synonymous	
QSOX1		inserm.fr	GRCh37	1	180165475	180165475	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC218T																					ENST00000367602.3:c.1547G>A	p.Arg516His	p.R516H	ENST00000367602		516	cGc/cAc	0	validated		possiblydamaging	
CECR2		inserm.fr	GRCh37	22	18016910	18016910	+	synonymous_variant	Silent	SNP	G	A	A			BCM257T																					ENST00000262608.8:c.1164G>A	p.Lys388=	p.K388=	ENST00000262608	NM_031413.3	388	aaG/aaA	0	validated		synonymous	
LHX4		inserm.fr	GRCh37	1	180217446	180217446	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB157T																					ENST00000263726.2:c.103C>A	p.Gln35Lys	p.Q35K	ENST00000263726	NM_033343.3	35	Cag/Aag	0	validated		benign	
LHX4		inserm.fr	GRCh37	1	180217556	180217556	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000263726.2:c.213G>A	p.Arg71=	p.R71=	ENST00000263726	NM_033343.3	71	agG/agA	0	not done		synonymous	
CECR2		inserm.fr	GRCh37	22	18022254	18022254	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1152T																					ENST00000262608.8:c.2359G>A	p.Val787Met	p.V787M	ENST00000262608	NM_031413.3	787	Gtg/Atg	0	validated		benign	
LCORL		inserm.fr	GRCh37	4	18023341	18023341	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000382226.5:c.34G>T	p.Ala12Ser	p.A12S	ENST00000382226	NM_001166139.1	12	Gcc/Tcc	0	not done		probablydamaging	
MYO15A		inserm.fr	GRCh37	17	18025373	18025373	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000205890.5:c.3259G>A	p.Ala1087Thr	p.A1087T	ENST00000205890	NM_016239.3	1087	Gcc/Acc	0	not done		benign	
CECR2		inserm.fr	GRCh37	22	18028184	18028184	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000262608.8:c.3144G>A	p.Lys1048=	p.K1048=	ENST00000262608	NM_031413.3	1048	aaG/aaA	0	not done		synonymous	
CCDC39		inserm.fr	GRCh37	3	180349368	180349368	+	synonymous_variant	Silent	SNP	G	A	A			CHC1624T																					ENST00000442201.2:c.1887C>T	p.Arg629=	p.R629=	ENST00000442201	NM_181426.1	629	cgC/cgT	0	validated		synonymous	
FGFR3		inserm.fr	GRCh37	4	1803749	1803749	+	synonymous_variant	Silent	SNP	C	A	A			CHC307T																					ENST00000260795.2:c.927C>A	p.Leu309=	p.L309=	ENST00000260795		309	ctC/ctA	0	validated		synonymous	
CCDC39		inserm.fr	GRCh37	3	180381713	180381713	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1603T																					ENST00000442201.2:c.152G>T	p.Arg51Leu	p.R51L	ENST00000442201	NM_181426.1	51	cGa/cTa	0	not done		probablydamaging	
BTNL3		inserm.fr	GRCh37	5	180420030	180420030	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000342868.6:c.267G>A	p.Lys89=	p.K89=	ENST00000342868	NM_197975.2	89	aaG/aaA	0	not done		synonymous	
TPH1		inserm.fr	GRCh37	11	18042657	18042657	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB157T																					ENST00000250018.2:c.1216C>T	p.Arg406Trp	p.R406W	ENST00000250018	NM_004179.2	406	Cgg/Tgg	0	validated		possiblydamaging	
MYO15A		inserm.fr	GRCh37	17	18044414	18044414	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000205890.5:c.5488G>A	p.Glu1830Lys	p.E1830K	ENST00000205890	NM_016239.3	1830	Gag/Aag	0	not done		possiblydamaging	
BTNL9		inserm.fr	GRCh37	5	180480305	180480305	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC884T																					ENST00000327705.9:c.842G>A	p.Arg281Gln	p.R281Q	ENST00000327705	NM_152547.4	281	cGg/cAg	0	validated		benign	
MYO15A		inserm.fr	GRCh37	17	18052174	18052174	+	synonymous_variant	Silent	SNP	G	A	A			CHC2052T																					ENST00000205890.5:c.6864G>A	p.Ser2288=	p.S2288=	ENST00000205890	NM_016239.3	2288	tcG/tcA	0	not done		synonymous	
ARHGEF10		inserm.fr	GRCh37	8	1806182	1806182	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC327T									Valid												ENST00000349830.3:c.94G>A	p.Asp32Asn	p.D32N	ENST00000349830	NM_014629.2	32	Gat/Aat	0	validated		probablydamaging	
TRIM7		inserm.fr	GRCh37	5	180622217	180622217	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000274773.7:c.1485C>T	p.Phe495=	p.F495=	ENST00000274773	NM_203293.2	495	ttC/ttT	0	not done		synonymous	
TRIM7		inserm.fr	GRCh37	5	180625780	180625780	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000274773.7:c.898C>T	p.Pro300Ser	p.P300S	ENST00000274773	NM_203293.2	300	Cca/Tca	0	not done		possiblydamaging	
XPR1		inserm.fr	GRCh37	1	180804043	180804043	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000367590.4:c.1168G>A	p.Gly390Ser	p.G390S	ENST00000367590	NM_004736.3	390	Ggc/Agc	0	not done		benign	
KIAA1614		inserm.fr	GRCh37	1	180885595	180885595	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2216T																					ENST00000367588.4:c.356G>A	p.Arg119Lys	p.R119K	ENST00000367588	NM_020950.1	119	aGa/aAa	0	not done		possiblydamaging	
KCNN1		inserm.fr	GRCh37	19	18092787	18092787	+	synonymous_variant	Silent	SNP	G	A	A			CHC2110Tbis																					ENST00000222249.9:c.768G>A	p.Ser256=	p.S256=	ENST00000222249	NM_002248.4	256	tcG/tcA	0	not done		synonymous	
MR1		inserm.fr	GRCh37	1	181003148	181003148	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000367580.5:c.5G>A	p.Gly2Glu	p.G2E	ENST00000367580	NM_001531.2	2	gGg/gAg	0	not done		benign	
ALKBH5		inserm.fr	GRCh37	17	18111602	18111602	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000399138.4:c.1077G>A	p.Arg359=	p.R359=	ENST00000399138	NM_017758.3	359	agG/agA	0	not done		synonymous	
KCNS3		inserm.fr	GRCh37	2	18112379	18112379	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB111T									Valid												ENST00000403915.1:c.104G>A	p.Arg35Gln	p.R35Q	ENST00000403915	NM_001282428.1	35	cGg/cAg	0	validated		probablydamaging	
KCNS3		inserm.fr	GRCh37	2	18112744	18112744	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000403915.1:c.469G>A	p.Glu157Lys	p.E157K	ENST00000403915	NM_001282428.1	157	Gag/Aag	0	not done		benign	
SOX2		inserm.fr	GRCh37	3	181430803	181430803	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000325404.1:c.655G>A	p.Gly219Ser	p.G219S	ENST00000325404	NM_003106.3	219	Ggc/Agc	0	not done		probablydamaging	
MRGPRX3		inserm.fr	GRCh37	11	18159696	18159696	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1736T																					ENST00000396275.2:c.947C>A	p.Ser316Ter	p.S316*	ENST00000396275	NM_054031.3	316	tCg/tAg	0	not done		damaging	
SMCR7		inserm.fr	GRCh37	17	18167657	18167657	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1566T																					ENST00000395706.2:c.977G>A	p.Arg326His	p.R326H	ENST00000395706	NM_148886.1	326	cGc/cAc	0	not done		probablydamaging	
CACNA1E		inserm.fr	GRCh37	1	181686288	181686288	+	synonymous_variant	Silent	SNP	C	A	A			CHC155T																					ENST00000367573.2:c.1375C>A	p.Arg459=	p.R459=	ENST00000367573	NM_001205293.1	459	Cgg/Agg	0	validated		synonymous	
CACNA1E		inserm.fr	GRCh37	1	181701859	181701859	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000367573.2:c.2637G>A	p.Arg879=	p.R879=	ENST00000367573	NM_001205293.1	879	cgG/cgA	0	not done		synonymous	
CACNA1E		inserm.fr	GRCh37	1	181705429	181705429	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000367573.2:c.3281G>A	p.Gly1094Glu	p.G1094E	ENST00000367573	NM_001205293.1	1094	gGg/gAg	0	not done		probablydamaging	
CACNA1E		inserm.fr	GRCh37	1	181732591	181732591	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC912T									Valid												ENST00000367573.2:c.4739C>A	p.Ala1580Asp	p.A1580D	ENST00000367573	NM_001205293.1	1580	gCt/gAt	0	validated		probablydamaging	
CACNA1E		inserm.fr	GRCh37	1	181767670	181767670	+	synonymous_variant	Silent	SNP	G	A	A			CHC2048T																					ENST00000367573.2:c.6642G>A	p.Pro2214=	p.P2214=	ENST00000367573	NM_001205293.1	2214	ccG/ccA	0	not done		synonymous	
IL12RB1		inserm.fr	GRCh37	19	18180441	18180441	+	synonymous_variant	Silent	SNP	G	A	A			CHC1053T																					ENST00000600835.2:c.1104C>T	p.Cys368=	p.C368=	ENST00000600835		368	tgC/tgT	0	validated		synonymous	
BCL2L13		inserm.fr	GRCh37	22	18185140	18185140	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000317582.5:c.588G>A	p.Gln196=	p.Q196=	ENST00000317582	NM_015367.3	196	caG/caA	0	not done		synonymous	
MAPK8IP3		inserm.fr	GRCh37	16	1818736	1818736	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000250894.4:c.3922G>A	p.Ala1308Thr	p.A1308T	ENST00000250894	NM_015133.3	1308	Gca/Aca	0	validated		benign	
BEND2		inserm.fr	GRCh37	X	18189251	18189251	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000380033.4:c.2055C>T	p.Cys685=	p.C685=	ENST00000380033	NM_153346.4	685	tgC/tgT	0	not done		synonymous	
IL12RB1		inserm.fr	GRCh37	19	18194255	18194255	+	synonymous_variant	Silent	SNP	C	A	A			CHC1053T																					ENST00000600835.2:c.111G>T	p.Pro37=	p.P37=	ENST00000600835		37	ccG/ccT	0	validated		synonymous	
SMCR8		inserm.fr	GRCh37	17	18219925	18219925	+	synonymous_variant	Silent	SNP	C	A	A			CHC1085T																					ENST00000406438.3:c.822C>A	p.Ile274=	p.I274=	ENST00000406438	NM_144775.2	274	atC/atA	0	validated		synonymous	
BID		inserm.fr	GRCh37	22	18220871	18220871	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2029T																					ENST00000317361.7:c.626C>T	p.Thr209Met	p.T209M	ENST00000317361	NM_197966.2	209	aCg/aTg	0	not done		possiblydamaging	
GLUL		inserm.fr	GRCh37	1	182353701	182353701	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1725T																					ENST00000311223.5:c.961G>T	p.Ala321Ser	p.A321S	ENST00000311223	NM_002065.5	321	Gcc/Tcc	0	not done		benign	
GLUL		inserm.fr	GRCh37	1	182357827	182357827	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC432T																					ENST00000311223.5:c.46G>T	p.Val16Leu	p.V16L	ENST00000311223	NM_002065.5	16	Gtg/Ttg	0	not done		benign	
DEK		inserm.fr	GRCh37	6	18236765	18236765	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC218T																					ENST00000397239.3:c.965A>T	p.Asp322Val	p.D322V	ENST00000397239	NM_003472.3	322	gAt/gTt	0	validated		probablydamaging	
ITGA4		inserm.fr	GRCh37	2	182386972	182386972	+	synonymous_variant	Silent	SNP	G	A	A			CHC909T																					ENST00000397033.2:c.1977G>A	p.Leu659=	p.L659=	ENST00000397033	NM_000885.4	659	ttG/ttA	0	not done		synonymous	
ITGA4		inserm.fr	GRCh37	2	182396389	182396389	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC2034T																					ENST00000397033.2:c.2670C>A	p.Cys890Ter	p.C890*	ENST00000397033	NM_000885.4	890	tgC/tgA	0	not done		damaging	
RGSL1		inserm.fr	GRCh37	1	182458296	182458296	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000294854.8:c.1676G>A	p.Gly559Asp	p.G559D	ENST00000294854	NM_001137669.1	559	gGc/gAc	0	not done		probablydamaging	
CERKL		inserm.fr	GRCh37	2	182468683	182468683	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC218T									Valid												ENST00000339098.5:c.362C>T	p.Thr121Ile	p.T121I	ENST00000339098		121	aCa/aTa	0	validated		probablydamaging	
NEUROD1		inserm.fr	GRCh37	2	182542893	182542893	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC097T																					ENST00000295108.3:c.695G>T	p.Gly232Val	p.G232V	ENST00000295108	NM_002500.4	232	gGt/gTt	0	not done		probablydamaging	
NEUROD1		inserm.fr	GRCh37	2	182543346	182543346	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000295108.3:c.242C>T	p.Pro81Leu	p.P81L	ENST00000295108	NM_002500.4	81	cCc/cTc	0	not done		probablydamaging	
NAT2		inserm.fr	GRCh37	8	18258366	18258366	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1209T																					ENST00000286479.3:c.853G>A	p.Asp285Asn	p.D285N	ENST00000286479	NM_000015.2	285	Gat/Aat	0	not done		benign	
MICAL3		inserm.fr	GRCh37	22	18274067	18274067	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1182T																					ENST00000441493.2:c.5651G>T	p.Gly1884Val	p.G1884V	ENST00000441493	NM_015241.2	1884	gGc/gTc	0	not done		damaging	
PIK3R2		inserm.fr	GRCh37	19	18277972	18277972	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB301T									Valid												ENST00000222254.8:c.1592G>A	p.Arg531His	p.R531H	ENST00000222254	NM_005027.3	531	cGc/cAc	0	validated		probablydamaging	
SSFA2		inserm.fr	GRCh37	2	182779975	182779975	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC912T									Valid												ENST00000431877.2:c.1608T>A	p.Ser536Arg	p.S536R	ENST00000431877	NM_001130445.1	536	agT/agA	0	validated		probablydamaging	
PIK3R2		inserm.fr	GRCh37	19	18279673	18279673	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000222254.8:c.1946G>A	p.Ser649Asn	p.S649N	ENST00000222254	NM_005027.3	649	aGc/aAc	0	not done		probablydamaging	
SHCBP1L		inserm.fr	GRCh37	1	182869193	182869193	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB325T									Valid												ENST00000367547.3:c.1887A>T	p.Gln629His	p.Q629H	ENST00000367547	NM_030933.2	629	caA/caT	0	validated		possiblydamaging	
SLC39A12		inserm.fr	GRCh37	10	18289703	18289703	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000377369.2:c.1708G>A	p.Gly570Arg	p.G570R	ENST00000377369	NM_001145195.1	570	Gga/Aga	0	not done		probablydamaging	
MCF2L2		inserm.fr	GRCh37	3	182947533	182947533	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000328913.3:c.1966C>T	p.His656Tyr	p.H656Y	ENST00000328913	NM_015078.2	656	Cat/Tat	0	not done		probablydamaging	
B3GNT5		inserm.fr	GRCh37	3	182988301	182988301	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000326505.3:c.715G>A	p.Val239Met	p.V239M	ENST00000326505	NM_032047.4	239	Gtg/Atg	0	not done		probablydamaging	
LAMC1		inserm.fr	GRCh37	1	182992948	182992948	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1152T																					ENST00000258341.4:c.97G>A	p.Ala33Thr	p.A33T	ENST00000258341	NM_002293.3	33	Gcc/Acc	0	not done		benign	
PDE1A		inserm.fr	GRCh37	2	183053765	183053765	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000435564.1:c.1196G>T	p.Gly399Val	p.G399V	ENST00000435564	NM_001258312.1	399	gGg/gTg	0	not done		probablydamaging	
PDE1A		inserm.fr	GRCh37	2	183053766	183053766	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000435564.1:c.1195G>T	p.Gly399Trp	p.G399W	ENST00000435564	NM_001258312.1	399	Ggg/Tgg	0	not done		probablydamaging	
MICAL3		inserm.fr	GRCh37	22	18305720	18305720	+	synonymous_variant	Silent	SNP	C	A	A			BCM483T																					ENST00000441493.2:c.3300G>T	p.Leu1100=	p.L1100=	ENST00000441493	NM_015241.2	1100	ctG/ctT	0	validated		synonymous	
LAMC1		inserm.fr	GRCh37	1	183077471	183077471	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000258341.4:c.784G>A	p.Glu262Lys	p.E262K	ENST00000258341	NM_002293.3	262	Gaa/Aaa	0	not done		probablydamaging	
LAMC1		inserm.fr	GRCh37	1	183086777	183086777	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000258341.4:c.1796G>A	p.Gly599Glu	p.G599E	ENST00000258341	NM_002293.3	599	gGa/gAa	0	not done		probablydamaging	
LAMC2		inserm.fr	GRCh37	1	183195877	183195877	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000264144.4:c.1111G>A	p.Val371Ile	p.V371I	ENST00000264144	NM_005562.2	371	Gtc/Atc	0	not done		benign	
KLHL6		inserm.fr	GRCh37	3	183217436	183217436	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1604T																					ENST00000341319.3:c.1089G>T	p.Glu363Asp	p.E363D	ENST00000341319	NM_130446.2	363	gaG/gaT	0	not done		possiblydamaging	
NMNAT2		inserm.fr	GRCh37	1	183253924	183253924	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000287713.6:c.450C>T	p.Ala150=	p.A150=	ENST00000287713	NM_015039.3	150	gcC/gcT	0	not done		damaging	
NMNAT2		inserm.fr	GRCh37	1	183387365	183387365	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM543T																					ENST00000287713.6:c.38C>T	p.Ala13Val	p.A13V	ENST00000287713	NM_015039.3	13	gCc/gTc	0	validated		possiblydamaging	
SCML2		inserm.fr	GRCh37	X	18348777	18348777	+	splice_acceptor_variant	Splice_Site	SNP	T	A	A			BCB325T									Valid												ENST00000251900.4:c.23-2A>T		p.X8_splice	ENST00000251900	NM_006089.2			0	validated		damaging	
SMG7		inserm.fr	GRCh37	1	183506291	183506291	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1545T																					ENST00000507469.1:c.1175G>A	p.Trp392Ter	p.W392*	ENST00000507469	NM_201569.2	392	tGg/tAg	0	not done		damaging	
SMG7		inserm.fr	GRCh37	1	183520245	183520245	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000507469.1:c.3232G>A	p.Ala1078Thr	p.A1078T	ENST00000507469	NM_201569.2	1078	Gcc/Acc	0	not done		benign	
TENM3		inserm.fr	GRCh37	4	183522291	183522291	+	synonymous_variant	Silent	SNP	C	A	A			CHC798T																					ENST00000511685.1:c.726C>A	p.Gly242=	p.G242=	ENST00000511685		242	ggC/ggA	0	validated		synonymous	
PARL		inserm.fr	GRCh37	3	183551536	183551536	+	synonymous_variant	Silent	SNP	C	A	A			CHC1749T																					ENST00000317096.4:c.906G>T	p.Pro302=	p.P302=	ENST00000317096	NM_018622.5	302	ccG/ccT	0	not done		synonymous	
PARL		inserm.fr	GRCh37	3	183580547	183580547	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC429T									Valid												ENST00000317096.4:c.505G>T	p.Val169Leu	p.V169L	ENST00000317096	NM_018622.5	169	Gtg/Ttg	0	validated		benign	
TENM3		inserm.fr	GRCh37	4	183659601	183659601	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC805T																					ENST00000511685.1:c.3283G>A	p.Glu1095Lys	p.E1095K	ENST00000511685		1095	Gaa/Aaa	0	not done		probablydamaging	
TENM3		inserm.fr	GRCh37	4	183676249	183676249	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC923T																					ENST00000511685.1:c.4729G>A	p.Val1577Met	p.V1577M	ENST00000511685		1577	Gtg/Atg	0	not done		benign	
TENM3		inserm.fr	GRCh37	4	183720974	183720974	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000511685.1:c.7570G>A	p.Val2524Met	p.V2524M	ENST00000511685		2524	Gtg/Atg	0	not done		probablydamaging	
HTR3D		inserm.fr	GRCh37	3	183756643	183756643	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000382489.3:c.1245G>A	p.Lys415=	p.K415=	ENST00000382489	NM_001163646.1	415	aaG/aaA	0	not done		synonymous	
HTR3C		inserm.fr	GRCh37	3	183772542	183772542	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000318351.1:c.101G>A	p.Gly34Asp	p.G34D	ENST00000318351	NM_130770.2	34	gGc/gAc	0	not done		probablydamaging	
HTR3C		inserm.fr	GRCh37	3	183777328	183777328	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000318351.1:c.825C>A	p.Ser275Arg	p.S275R	ENST00000318351	NM_130770.2	275	agC/agA	0	not done		probablydamaging	
GTF2H1		inserm.fr	GRCh37	11	18379552	18379552	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000265963.4:c.1314G>A	p.Gly438=	p.G438=	ENST00000265963	NM_005316.3	438	ggG/ggA	0	not done		synonymous	
GTF2H1		inserm.fr	GRCh37	11	18379590	18379590	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000265963.4:c.1351+1G>A		p.X451_splice	ENST00000265963	NM_005316.3			0	not done		damaging	
GTF2H1		inserm.fr	GRCh37	11	18380079	18380079	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000265963.4:c.1359G>A	p.Val453=	p.V453=	ENST00000265963	NM_005316.3	453	gtG/gtA	0	not done		synonymous	
HTR3E		inserm.fr	GRCh37	3	183822594	183822594	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM423T																					ENST00000440596.2:c.487C>A	p.Pro163Thr	p.P163T	ENST00000440596	NM_001256614.1	163	Cca/Aca	0	validated		probablydamaging	
HTR3E		inserm.fr	GRCh37	3	183824076	183824076	+	synonymous_variant	Silent	SNP	C	A	A			CHC433T																					ENST00000440596.2:c.1164C>A	p.Pro388=	p.P388=	ENST00000440596	NM_001256614.1	388	ccC/ccA	0	validated		synonymous	
NCKAP1		inserm.fr	GRCh37	2	183826948	183826948	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000360982.2:c.1838C>T	p.Ala613Val	p.A613V	ENST00000360982	NM_013436.4	613	gCc/gTc	0	not done		probablydamaging	
NUBP2		inserm.fr	GRCh37	16	1838670	1838670	+	synonymous_variant	Silent	SNP	C	A	A			CHC1742T																					ENST00000262302.9:c.771C>A	p.Ser257=	p.S257=	ENST00000262302	NM_012225.2	257	tcC/tcA	0	not done		synonymous	
DVL3		inserm.fr	GRCh37	3	183884299	183884299	+	synonymous_variant	Silent	SNP	G	A	A			BCM617T																					ENST00000313143.3:c.969G>A	p.Val323=	p.V323=	ENST00000313143	NM_004423.3	323	gtG/gtA	0	validated		synonymous	
ABCF3		inserm.fr	GRCh37	3	183905696	183905696	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000429586.2:c.494G>A	p.Ser165Asn	p.S165N	ENST00000429586	NM_018358.2	165	aGt/aAt	0	not done		benign	
ABCF3		inserm.fr	GRCh37	3	183906104	183906104	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC796T																					ENST00000429586.2:c.745C>A	p.Pro249Thr	p.P249T	ENST00000429586	NM_018358.2	249	Cct/Act	0	validated		benign	
VWA5B2		inserm.fr	GRCh37	3	183948401	183948401	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000426955.2:c.85C>A	p.Leu29Ile	p.L29I	ENST00000426955	NM_138345.1	29	Ctc/Atc	0	validated		probablydamaging	
VWA5B2		inserm.fr	GRCh37	3	183957218	183957218	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM617T																					ENST00000426955.2:c.2239C>A	p.His747Asn	p.H747N	ENST00000426955	NM_138345.1	747	Cac/Aac	0	validated		benign	
RTN4RL1		inserm.fr	GRCh37	17	1839899	1839899	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000331238.6:c.1217G>T	p.Arg406Leu	p.R406L	ENST00000331238	NM_178568.2	406	cGc/cTc	0	not done		probablydamaging	
COLGALT2		inserm.fr	GRCh37	1	184006275	184006275	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1097T																					ENST00000361927.4:c.217G>T	p.Gly73Cys	p.G73C	ENST00000361927	NM_015101.2	73	Ggc/Tgc	0	validated		probablydamaging	
PSMD2		inserm.fr	GRCh37	3	184025435	184025435	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB151T																					ENST00000310118.4:c.2237G>A	p.Arg746His	p.R746H	ENST00000310118	NM_002808.4	746	cGc/cAc	0	validated		probablydamaging	
EIF4G1		inserm.fr	GRCh37	3	184041347	184041347	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2128T																					ENST00000424196.1:c.2261G>A	p.Arg754Gln	p.R754Q	ENST00000424196		754	cGa/cAa	0	not done		possiblydamaging	
CLCN2		inserm.fr	GRCh37	3	184070111	184070111	+	synonymous_variant	Silent	SNP	C	A	A			CHC798T																					ENST00000265593.4:c.2280G>T	p.Ala760=	p.A760=	ENST00000265593	NM_004366.5	760	gcG/gcT	0	validated		synonymous	
CHRD		inserm.fr	GRCh37	3	184104351	184104351	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000204604.1:c.2004G>A	p.Ala668=	p.A668=	ENST00000204604	NM_003741.2	668	gcG/gcA	0	not done		synonymous	
CHRD		inserm.fr	GRCh37	3	184106748	184106748	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000204604.1:c.2777G>A	p.Ser926Asn	p.S926N	ENST00000204604	NM_003741.2	926	aGt/aAt	0	not done		benign	
WWC2		inserm.fr	GRCh37	4	184161336	184161336	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000403733.3:c.523G>A	p.Val175Ile	p.V175I	ENST00000403733	NM_024949.5	175	Gtt/Att	0	not done		benign	
WWC2		inserm.fr	GRCh37	4	184166672	184166672	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000403733.3:c.706G>A	p.Glu236Lys	p.E236K	ENST00000403733	NM_024949.5	236	Gaa/Aaa	0	not done		probablydamaging	
LDHA		inserm.fr	GRCh37	11	18421059	18421059	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC703T																					ENST00000540430.1:c.295C>A	p.Leu99Ile	p.L99I	ENST00000540430	NM_001165414.1	99	Ctt/Att	0	validated		probablydamaging	
EPHB3		inserm.fr	GRCh37	3	184293756	184293756	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1749T																					ENST00000330394.2:c.995C>A	p.Ala332Glu	p.A332E	ENST00000330394	NM_004443.3	332	gCg/gAg	0	not done		possiblydamaging	
LDHC		inserm.fr	GRCh37	11	18451390	18451390	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC303T																					ENST00000541669.1:c.351G>A	p.Met117Ile	p.M117I	ENST00000541669		117	atG/atA	0	validated		probablydamaging	
VPS8		inserm.fr	GRCh37	3	184618743	184618743	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2206T																					ENST00000437079.3:c.2129C>A	p.Ala710Glu	p.A710E	ENST00000437079	NM_001009921.2	710	gCa/gAa	0	validated		benign	
FAM129A		inserm.fr	GRCh37	1	184764400	184764400	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000367511.3:c.2498C>T	p.Thr833Ile	p.T833I	ENST00000367511	NM_052966.3	833	aCc/aTc	0	not done		benign	
FAM129A		inserm.fr	GRCh37	1	184853834	184853834	+	synonymous_variant	Silent	SNP	G	A	A			CHC1201T																					ENST00000367511.3:c.534C>T	p.Phe178=	p.F178=	ENST00000367511	NM_052966.3	178	ttC/ttT	0	not done		synonymous	
STOX2		inserm.fr	GRCh37	4	184930367	184930367	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000308497.4:c.376G>A	p.Glu126Lys	p.E126K	ENST00000308497	NM_020225.1	126	Gag/Aag	0	not done		probablydamaging	
STOX2		inserm.fr	GRCh37	4	184930791	184930791	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000308497.4:c.800G>A	p.Gly267Glu	p.G267E	ENST00000308497	NM_020225.1	267	gGg/gAg	0	not done		probablydamaging	
STOX2		inserm.fr	GRCh37	4	184931120	184931120	+	synonymous_variant	Silent	SNP	C	A	A			CHC1717T																					ENST00000308497.4:c.1129C>A	p.Arg377=	p.R377=	ENST00000308497	NM_020225.1	377	Cgg/Agg	0	not done		synonymous	
TMEM52		inserm.fr	GRCh37	1	1849531	1849531	+	synonymous_variant	Silent	SNP	G	A	A			CHC884T																					ENST00000310991.3:c.420C>T	p.Ser140=	p.S140=	ENST00000310991	NM_178545.3	140	tcC/tcT	0	validated		synonymous	
SEC23B		inserm.fr	GRCh37	20	18523680	18523680	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000336714.3:c.1529G>A	p.Ser510Asn	p.S510N	ENST00000336714	NM_032985.4	510	aGt/aAt	0	not done		benign	
LIPH		inserm.fr	GRCh37	3	185251384	185251384	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000296252.4:c.501C>T	p.Tyr167=	p.Y167=	ENST00000296252	NM_139248.2	167	taC/taT	0	not done		synonymous	
CACNB2		inserm.fr	GRCh37	10	18550225	18550225	+	intron_variant	Intron	SNP	C	A	A			CHC313T																					ENST00000324631.7:c.213+110321C>A		*71*	ENST00000324631	NM_201593.2			0	validated		synonymous	
CCDC111		inserm.fr	GRCh37	4	185578467	185578467	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC097T																					ENST00000314970.6:c.173G>A	p.Cys58Tyr	p.C58Y	ENST00000314970	NM_152683.2	58	tGt/tAt	0	not done		probablydamaging	
CCDC111		inserm.fr	GRCh37	4	185612857	185612857	+	synonymous_variant	Silent	SNP	T	A	A			CHC1742T																					ENST00000314970.6:c.1416T>A	p.Leu472=	p.L472=	ENST00000314970	NM_152683.2	472	ctT/ctA	0	not done		synonymous	
PEX26		inserm.fr	GRCh37	22	18561364	18561364	+	synonymous_variant	Silent	SNP	C	A	A			CHC1061T																					ENST00000329627.7:c.222C>A	p.Pro74=	p.P74=	ENST00000329627	NM_017929.5	74	ccC/ccA	0	validated		synonymous	
PEX26		inserm.fr	GRCh37	22	18566278	18566278	+	synonymous_variant	Silent	SNP	C	A	A			CHC923T																					ENST00000329627.7:c.447C>A	p.Ala149=	p.A149=	ENST00000329627	NM_017929.5	149	gcC/gcA	0	not done		synonymous	
DTD1		inserm.fr	GRCh37	20	18574458	18574458	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000377452.3:c.127G>A	p.Glu43Lys	p.E43K	ENST00000377452	NM_080820.4	43	Gaa/Aaa	0	not done		possiblydamaging	
SYT8		inserm.fr	GRCh37	11	1857446	1857446	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM545T																					ENST00000381968.3:c.490C>A	p.His164Asn	p.H164N	ENST00000381968	NM_138567.3	164	Cac/Aac	0	validated		benign	
ZNF804A		inserm.fr	GRCh37	2	185801059	185801059	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1741T																					ENST00000302277.6:c.936C>A	p.Cys312Ter	p.C312*	ENST00000302277	NM_194250.1	312	tgC/tgA	0	not done		damaging	
ZNF804A		inserm.fr	GRCh37	2	185801474	185801474	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2211T																					ENST00000302277.6:c.1351C>A	p.Pro451Thr	p.P451T	ENST00000302277	NM_194250.1	451	Cca/Aca	0	not done		probablydamaging	
ZNF804A		inserm.fr	GRCh37	2	185802674	185802674	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1626T																					ENST00000302277.6:c.2551G>A	p.Glu851Lys	p.E851K	ENST00000302277	NM_194250.1	851	Gaa/Aaa	0	not done		probablydamaging	
HELT		inserm.fr	GRCh37	4	185940790	185940790	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000338875.4:c.277G>A	p.Glu93Lys	p.E93K	ENST00000338875	NM_001029887.1	93	Gag/Aag	0	not done		benign	
HMCN1		inserm.fr	GRCh37	1	186034381	186034381	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC155T									Valid												ENST00000271588.4:c.7525C>A	p.Pro2509Thr	p.P2509T	ENST00000271588	NM_031935.2	2509	Cca/Aca	0	validated		probablydamaging	
HMCN1		inserm.fr	GRCh37	1	186094876	186094876	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1715T																					ENST00000271588.4:c.12640G>A	p.Gly4214Arg	p.G4214R	ENST00000271588	NM_031935.2	4214	Gga/Aga	0	not done		probablydamaging	
HMCN1		inserm.fr	GRCh37	1	186097323	186097323	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000271588.4:c.12804C>A	p.Asp4268Glu	p.D4268E	ENST00000271588	NM_031935.2	4268	gaC/gaA	0	not done		probablydamaging	
HMCN1		inserm.fr	GRCh37	1	186107048	186107048	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM423T																					ENST00000271588.4:c.13868G>A	p.Arg4623Gln	p.R4623Q	ENST00000271588	NM_031935.2	4623	cGg/cAg	0	validated		probablydamaging	
IGSF21		inserm.fr	GRCh37	1	18618482	18618482	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000251296.1:c.305+1G>A		p.X102_splice	ENST00000251296	NM_032880.4			0	not done		damaging	
ROCK1		inserm.fr	GRCh37	18	18624065	18624065	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	A	A			BCM501T									Valid												ENST00000399799.2:c.673A>T	p.Lys225Ter	p.K225*	ENST00000399799	NM_005406.2	225	Aag/Tag	0	validated		damaging	
HDAC9		inserm.fr	GRCh37	7	18625046	18625046	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000441542.2:c.165G>A	p.Gln55=	p.Q55=	ENST00000441542	NM_178425.2	55	caG/caA	0	not done		synonymous	
PRG4		inserm.fr	GRCh37	1	186275673	186275673	+	synonymous_variant	Silent	SNP	G	A	A			CHC912T																					ENST00000445192.2:c.822G>A	p.Thr274=	p.T274=	ENST00000445192	NM_005807.3	274	acG/acA	0	validated		synonymous	
TBCCD1		inserm.fr	GRCh37	3	186282031	186282031	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1061T																					ENST00000424280.1:c.88C>T	p.Leu30Phe	p.L30F	ENST00000424280	NM_001134415.1	30	Ctt/Ttt	0	validated		benign	
DNAJB11		inserm.fr	GRCh37	3	186289978	186289978	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2111T																					ENST00000439351.1:c.163G>A	p.Asp55Asn	p.D55N	ENST00000439351		55	Gac/Aac	0	not done		probablydamaging	
ROCK1		inserm.fr	GRCh37	18	18629088	18629088	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC218T																					ENST00000399799.2:c.379A>T	p.Ile127Phe	p.I127F	ENST00000399799	NM_005406.2	127	Atc/Ttc	0	validated		probablydamaging	
HDAC9		inserm.fr	GRCh37	7	18630069	18630069	+	synonymous_variant	Silent	SNP	G	A	A			CHC304T																					ENST00000441542.2:c.375G>A	p.Gln125=	p.Q125=	ENST00000441542	NM_178425.2	125	caG/caA	0	validated		synonymous	
KLF16		inserm.fr	GRCh37	19	1863053	1863053	+	synonymous_variant	Silent	SNP	C	A	A			BCB167T																					ENST00000250916.4:c.444G>T	p.Leu148=	p.L148=	ENST00000250916	NM_031918.3	148	ctG/ctT	0	validated		synonymous	
TPR		inserm.fr	GRCh37	1	186310488	186310488	+	synonymous_variant	Silent	SNP	G	A	A			CHC1205T																					ENST00000367478.4:c.3784C>T	p.Leu1262=	p.L1262=	ENST00000367478	NM_003292.2	1262	Ctg/Ttg	0	not done		synonymous	
SPTY2D1		inserm.fr	GRCh37	11	18631492	18631492	+	synonymous_variant	Silent	SNP	C	A	A			CHC1041T																					ENST00000336349.5:c.1974G>T	p.Leu658=	p.L658=	ENST00000336349	NM_194285.2	658	ctG/ctT	0	validated		synonymous	
TPR		inserm.fr	GRCh37	1	186322853	186322853	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2029T																					ENST00000367478.4:c.2301G>T	p.Leu767Phe	p.L767F	ENST00000367478	NM_003292.2	767	ttG/ttT	0	not done		probablydamaging	
HRG		inserm.fr	GRCh37	3	186395414	186395414	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000232003.4:c.1320G>A	p.Arg440=	p.R440=	ENST00000232003	NM_000412.2	440	agG/agA	0	not done		synonymous	
PDLIM3		inserm.fr	GRCh37	4	186423502	186423502	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000284770.5:c.1041C>T	p.Ala347=	p.A347=	ENST00000284770	NM_014476.5	347	gcC/gcT	0	not done		synonymous	
FSIP2		inserm.fr	GRCh37	2	186603394	186603394	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1763T																					ENST00000343098.5:c.40G>A	p.Gly14Arg	p.G14R	ENST00000343098	NM_173651.2	14	Gga/Aga	0	not done			
FSIP2		inserm.fr	GRCh37	2	186603677	186603677	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1744T																					ENST00000343098.5:c.323C>A	p.Thr108Lys	p.T108K	ENST00000343098	NM_173651.2	108	aCg/aAg	0	validated			
PTGS2		inserm.fr	GRCh37	1	186649411	186649411	+	synonymous_variant	Silent	SNP	G	A	A			BCB109T																					ENST00000367468.5:c.12C>T	p.Arg4=	p.R4=	ENST00000367468	NM_000963.2	4	cgC/cgT	0	validated		synonymous	
FSIP2		inserm.fr	GRCh37	2	186665535	186665535	+	synonymous_variant	Silent	SNP	G	A	A			BCM397T																					ENST00000343098.5:c.11769G>A	p.Leu3923=	p.L3923=	ENST00000343098	NM_173651.2	3923	ttG/ttA	0	validated		synonymous	
FSIP2		inserm.fr	GRCh37	2	186671369	186671369	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM337T																					ENST00000343098.5:c.17603C>A	p.Pro5868His	p.P5868H	ENST00000343098	NM_173651.2	5868	cCt/cAt	0	validated			
FSIP2		inserm.fr	GRCh37	2	186671749	186671749	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM399T																					ENST00000343098.5:c.17983C>A	p.Pro5995Thr	p.P5995T	ENST00000343098	NM_173651.2	5995	Cca/Aca	0	validated			
HDAC9		inserm.fr	GRCh37	7	18688240	18688240	+	synonymous_variant	Silent	SNP	T	A	A			CHC1624T																					ENST00000441542.2:c.1401T>A	p.Ile467=	p.I467=	ENST00000441542	NM_178425.2	467	atT/atA	0	validated		synonymous	
TLR3		inserm.fr	GRCh37	4	187004581	187004581	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000296795.3:c.1741G>A	p.Val581Ile	p.V581I	ENST00000296795	NM_003265.2	581	Gtc/Atc	0	not done		benign	
CRLF1		inserm.fr	GRCh37	19	18707571	18707571	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000392386.3:c.885C>T	p.Ser295=	p.S295=	ENST00000392386	NM_004750.4	295	tcC/tcT	0	not done		synonymous	
CRLF1		inserm.fr	GRCh37	19	18709678	18709678	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC879T																					ENST00000392386.3:c.431G>T	p.Trp144Leu	p.W144L	ENST00000392386	NM_004750.4	144	tGg/tTg	0	not done		probablydamaging	
TMEM86A		inserm.fr	GRCh37	11	18722552	18722552	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM371T																					ENST00000280734.2:c.94T>A	p.Ser32Thr	p.S32T	ENST00000280734	NM_153347.1	32	Tca/Aca	0	validated		benign	
TMEM59L		inserm.fr	GRCh37	19	18726929	18726929	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000600490.1:c.553G>A	p.Val185Met	p.V185M	ENST00000600490		185	Gtg/Atg	0	not done		probablydamaging	
IGSF22		inserm.fr	GRCh37	11	18727626	18727626	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000513874.1:c.3648G>T	p.Val1216=	p.V1216=	ENST00000513874	NM_173588.3	1216	gtG/gtT	0	not done		synonymous	
TMEM59L		inserm.fr	GRCh37	19	18727861	18727861	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1081T																					ENST00000600490.1:c.613G>A	p.Val205Met	p.V205M	ENST00000600490		205	Gtg/Atg	0	validated		benign	
RTP2		inserm.fr	GRCh37	3	187416402	187416402	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000358241.1:c.562G>T	p.Ala188Ser	p.A188S	ENST00000358241	NM_001004312.2	188	Gcc/Tcc	0	not done		benign	
RDH14		inserm.fr	GRCh37	2	18741700	18741700	+	synonymous_variant	Silent	SNP	G	A	A			BCM229T																					ENST00000381249.3:c.139C>T	p.Leu47=	p.L47=	ENST00000381249	NM_020905.3	47	Ctg/Ttg	0	validated		synonymous	
FAT1		inserm.fr	GRCh37	4	187521089	187521089	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000441802.2:c.12066C>T	p.Cys4022=	p.C4022=	ENST00000441802	NM_005245.3	4022	tgC/tgT	0	not done		synonymous	
ITGAV		inserm.fr	GRCh37	2	187531923	187531923	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC898T																					ENST00000261023.3:c.2293G>A	p.Asp765Asn	p.D765N	ENST00000261023	NM_002210.4	765	Gat/Aat	0	not done		possiblydamaging	
FAM171B		inserm.fr	GRCh37	2	187558905	187558905	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1738T																					ENST00000304698.5:c.5C>A	p.Ala2Glu	p.A2E	ENST00000304698	NM_177454.3	2	gCg/gAg	0	not done		possiblydamaging	
FAT1		inserm.fr	GRCh37	4	187560876	187560876	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000441802.2:c.3642G>T	p.Glu1214Asp	p.E1214D	ENST00000441802	NM_005245.3	1214	gaG/gaT	0	validated		probablydamaging	
PTPN5		inserm.fr	GRCh37	11	18759482	18759482	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1545T																					ENST00000358540.2:c.945A>T	p.Lys315Asn	p.K315N	ENST00000358540	NM_006906.1	315	aaA/aaT	0	not done		probablydamaging	
FAM171B		inserm.fr	GRCh37	2	187627046	187627046	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000304698.5:c.1977G>A	p.Leu659=	p.L659=	ENST00000304698	NM_177454.3	659	ctG/ctA	0	not done		synonymous	
FAM171B		inserm.fr	GRCh37	2	187627414	187627414	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC923T																					ENST00000304698.5:c.2345G>A	p.Arg782Lys	p.R782K	ENST00000304698	NM_177454.3	782	aGg/aAg	0	not done		benign	
FAT1		inserm.fr	GRCh37	4	187628698	187628698	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC794T									Valid												ENST00000441802.2:c.2284G>T	p.Asp762Tyr	p.D762Y	ENST00000441802	NM_005245.3	762	Gat/Tat	0	validated		probablydamaging	
ZSWIM2		inserm.fr	GRCh37	2	187692816	187692816	+	synonymous_variant	Silent	SNP	C	A	A			CHC1207T																					ENST00000295131.2:c.1797G>T	p.Gly599=	p.G599=	ENST00000295131	NM_182521.2	599	ggG/ggT	0	not done		synonymous	
IRX4		inserm.fr	GRCh37	5	1878643	1878643	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1569T																					ENST00000505790.1:c.1000C>T	p.Pro334Ser	p.P334S	ENST00000505790	NM_001278634.1	334	Ccg/Tcg	0	not done		possiblydamaging	
PTPN5		inserm.fr	GRCh37	11	18787370	18787370	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000358540.2:c.81C>T	p.Cys27=	p.C27=	ENST00000358540	NM_006906.1	27	tgC/tgT	0	not done		synonymous	
IRX4		inserm.fr	GRCh37	5	1878835	1878835	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1774T																					ENST00000505790.1:c.808C>T	p.Pro270Ser	p.P270S	ENST00000505790	NM_001278634.1	270	Ccg/Tcg	0	validated		benign	
SCP2D1		inserm.fr	GRCh37	20	18794634	18794634	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1602T																					ENST00000377428.2:c.175G>A	p.Gly59Arg	p.G59R	ENST00000377428	NM_178483.2	59	Gga/Aga	0	not done		probablydamaging	
IRX4		inserm.fr	GRCh37	5	1879920	1879920	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000505790.1:c.434G>T	p.Arg145Leu	p.R145L	ENST00000505790	NM_001278634.1	145	cGg/cTg	0	not done		probablydamaging	
KLHDC7A		inserm.fr	GRCh37	1	18807619	18807619	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000400664.1:c.144G>A	p.Trp48Ter	p.W48*	ENST00000400664	NM_152375.2	48	tgG/tgA	0	not done		damaging	
KLHDC7A		inserm.fr	GRCh37	1	18809402	18809402	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1741T																					ENST00000400664.1:c.1927C>A	p.Leu643Met	p.L643M	ENST00000400664	NM_152375.2	643	Ctg/Atg	0	not done		probablydamaging	
C21orf37		inserm.fr	GRCh37	21	18816416	18816416	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000440664.1:c.79C>A	p.Pro27Thr	p.P27T	ENST00000440664		27	Cct/Act	0	not done			
SMG1		inserm.fr	GRCh37	16	18845622	18845622	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2115T																					ENST00000446231.2:c.8469G>T	p.Lys2823Asn	p.K2823N	ENST00000446231		2823	aaG/aaT	0	not done		benign	
HDAC9		inserm.fr	GRCh37	7	18875523	18875523	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000441542.2:c.2587G>A	p.Val863Ile	p.V863I	ENST00000441542	NM_178425.2	863	Gtt/Att	0	not done		benign	
TPRG1		inserm.fr	GRCh37	3	188933086	188933086	+	synonymous_variant	Silent	SNP	G	A	A			BCM439T																					ENST00000345063.3:c.216G>A	p.Gly72=	p.G72=	ENST00000345063	NM_198485.3	72	ggG/ggA	0	validated		synonymous	
TPRG1		inserm.fr	GRCh37	3	188956568	188956568	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC884T									Valid												ENST00000345063.3:c.349G>A	p.Asp117Asn	p.D117N	ENST00000345063	NM_198485.3	117	Gac/Aac	0	validated		probablydamaging	
TRIML1		inserm.fr	GRCh37	4	189068072	189068072	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000332517.3:c.953C>A	p.Pro318His	p.P318H	ENST00000332517	NM_178556.3	318	cCc/cAc	0	not done		probablydamaging	
FAM154A		inserm.fr	GRCh37	9	18928332	18928332	+	synonymous_variant	Silent	SNP	G	A	A			CHC917T																					ENST00000380534.4:c.1143C>T	p.His381=	p.H381=	ENST00000380534	NM_153707.2	381	caC/caT	0	validated		synonymous	
ADIPOR2		inserm.fr	GRCh37	12	1893089	1893089	+	synonymous_variant	Silent	SNP	G	A	A			BCB301T																					ENST00000357103.4:c.882G>A	p.Leu294=	p.L294=	ENST00000357103	NM_024551.2	294	ttG/ttA	0	validated		synonymous	
TP63		inserm.fr	GRCh37	3	189526218	189526218	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2127T																					ENST00000264731.3:c.482C>A	p.Pro161Gln	p.P161Q	ENST00000264731	NM_003722.4	161	cCa/cAa	0	not done		probablydamaging	
MRGPRX1		inserm.fr	GRCh37	11	18955646	18955646	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000302797.3:c.686G>T	p.Gly229Val	p.G229V	ENST00000302797	NM_147199.3	229	gGc/gTc	0	not done		probablydamaging	
DIRC1		inserm.fr	GRCh37	2	189599436	189599436	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1595T																					ENST00000308100.4:c.212C>T	p.Thr71Ile	p.T71I	ENST00000308100	NM_052952.2	71	aCa/aTa	0	validated		benign	
LEPREL1		inserm.fr	GRCh37	3	189704597	189704597	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1201T																					ENST00000319332.5:c.1168G>T	p.Gly390Trp	p.G390W	ENST00000319332	NM_018192.3	390	Ggg/Tgg	0	not done		probablydamaging	
UPF1		inserm.fr	GRCh37	19	18976201	18976201	+	synonymous_variant	Silent	SNP	G	A	A			BCB111T																					ENST00000262803.5:c.2961G>A	p.Leu987=	p.L987=	ENST00000262803	NM_002911.3	987	ctG/ctA	0	validated		synonymous	
LEPREL1		inserm.fr	GRCh37	3	189838119	189838119	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000319332.5:c.402C>T	p.Arg134=	p.R134=	ENST00000319332	NM_018192.3	134	cgC/cgT	0	not done		synonymous	
COL3A1		inserm.fr	GRCh37	2	189849593	189849593	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1616T																					ENST00000304636.3:c.187G>A	p.Asp63Asn	p.D63N	ENST00000304636	NM_000090.3	63	Gat/Aat	0	not done		probablydamaging	
COL3A1		inserm.fr	GRCh37	2	189858169	189858169	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000304636.3:c.1133G>A	p.Gly378Asp	p.G378D	ENST00000304636	NM_000090.3	378	gGt/gAt	0	not done		probablydamaging	
COL3A1		inserm.fr	GRCh37	2	189862116	189862116	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC2141T																					ENST00000304636.3:c.1869+1G>A		p.X623_splice	ENST00000304636	NM_000090.3			0	not done		damaging	
COL3A1		inserm.fr	GRCh37	2	189863445	189863445	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000304636.3:c.2022+1G>A		p.X674_splice	ENST00000304636	NM_000090.3			0	not done		damaging	
COL3A1		inserm.fr	GRCh37	2	189868487	189868487	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM439T																					ENST00000304636.3:c.2635G>A	p.Gly879Ser	p.G879S	ENST00000304636	NM_000090.3	879	Ggt/Agt	0	validated		probablydamaging	
COL3A1		inserm.fr	GRCh37	2	189873670	189873670	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000304636.3:c.3546G>A	p.Gly1182=	p.G1182=	ENST00000304636	NM_000090.3	1182	ggG/ggA	0	not done		synonymous	
CERS1		inserm.fr	GRCh37	19	18995038	18995038	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000427170.2:c.448G>T	p.Ala150Ser	p.A150S	ENST00000427170	NM_021267.3	150	Gcc/Tcc	0	not done		benign	
FAM5C		inserm.fr	GRCh37	1	190067334	190067334	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC451T																					ENST00000367462.3:c.2115G>T	p.Glu705Asp	p.E705D	ENST00000367462	NM_199051.1	705	gaG/gaT	0	validated		probablydamaging	
FAM5C		inserm.fr	GRCh37	1	190067788	190067788	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC097T																					ENST00000367462.3:c.1661C>T	p.Ser554Phe	p.S554F	ENST00000367462	NM_199051.1	554	tCt/tTt	0	not done		probablydamaging	
GPR64		inserm.fr	GRCh37	X	19009042	19009042	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000379869.3:c.2994C>T	p.Gly998=	p.G998=	ENST00000379869	NM_001079858.2	998	ggC/ggT	0	not done		synonymous	
LSP1		inserm.fr	GRCh37	11	1901414	1901414	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000381775.1:c.535G>A	p.Gly179Arg	p.G179R	ENST00000381775	NM_001242932.1	179	Gga/Aga	0	not done		benign	
HDAC9		inserm.fr	GRCh37	7	19015534	19015534	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC205T									Valid												ENST00000441542.2:c.3128T>A	p.Leu1043Gln	p.L1043Q	ENST00000441542	NM_178425.2	1043	cTa/cAa	0	validated		probablydamaging	
TMEM207		inserm.fr	GRCh37	3	190167549	190167549	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1209T																					ENST00000354905.2:c.50G>T	p.Gly17Val	p.G17V	ENST00000354905	NM_207316.1	17	gGg/gTg	0	not done		probablydamaging	
GREB1L		inserm.fr	GRCh37	18	19020348	19020348	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000580732.2:c.1068G>A	p.Thr356=	p.T356=	ENST00000580732		356	acG/acA	0	not done		damaging	
GREB1L		inserm.fr	GRCh37	18	19021441	19021441	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000580732.2:c.1150G>A	p.Val384Ile	p.V384I	ENST00000580732		384	Gta/Ata	0	not done		probablydamaging	
WHSC1		inserm.fr	GRCh37	4	1902447	1902447	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000382891.5:c.66G>A	p.Lys22=	p.K22=	ENST00000382891	NM_133335.3	22	aaG/aaA	0	not done		synonymous	
TMC7		inserm.fr	GRCh37	16	19027844	19027844	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000304381.5:c.384G>A	p.Trp128Ter	p.W128*	ENST00000304381	NM_024847.3	128	tgG/tgA	0	not done		damaging	
WHSC1		inserm.fr	GRCh37	4	1902896	1902896	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000382891.5:c.515G>A	p.Ser172Asn	p.S172N	ENST00000382891	NM_133335.3	172	aGc/aAc	0	not done		possiblydamaging	
GREB1L		inserm.fr	GRCh37	18	19029590	19029590	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000580732.2:c.1513G>A	p.Gly505Arg	p.G505R	ENST00000580732		505	Gga/Aga	0	not done		benign	
IL1RAP		inserm.fr	GRCh37	3	190345193	190345193	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000317757.3:c.857G>A	p.Gly286Glu	p.G286E	ENST00000317757	NM_001167931.1	286	gGa/gAa	0	not done		probablydamaging	
KIAA1751		inserm.fr	GRCh37	1	1904459	1904459	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC609T																					ENST00000270720.7:n.858C>T		*286*	ENST00000270720				0	validated		synonymous	
LSP1		inserm.fr	GRCh37	11	1904769	1904769	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000381775.1:c.861G>A	p.Gly287=	p.G287=	ENST00000381775	NM_001242932.1	287	ggG/ggA	0	not done		synonymous	
LSP1		inserm.fr	GRCh37	11	1904788	1904788	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000381775.1:c.880G>A	p.Glu294Lys	p.E294K	ENST00000381775	NM_001242932.1	294	Gag/Aag	0	not done		possiblydamaging	
ASNSD1		inserm.fr	GRCh37	2	190530945	190530945	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000260952.4:c.87G>A	p.Gln29=	p.Q29=	ENST00000260952	NM_019048.2	29	caG/caA	0	not done		synonymous	
GPR64		inserm.fr	GRCh37	X	19055721	19055721	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000379869.3:c.188C>T	p.Ser63Phe	p.S63F	ENST00000379869	NM_001079858.2	63	tCc/tTc	0	not done		possiblydamaging	
GPR64		inserm.fr	GRCh37	X	19055726	19055726	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000379869.3:c.183C>T	p.Pro61=	p.P61=	ENST00000379869	NM_001079858.2	61	ccC/ccT	0	not done		synonymous	
TMC7		inserm.fr	GRCh37	16	19056224	19056224	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000304381.5:c.1356G>A	p.Leu452=	p.L452=	ENST00000304381	NM_024847.3	452	ctG/ctA	0	not done		synonymous	
GMNC		inserm.fr	GRCh37	3	190573115	190573115	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000442080.1:c.974G>T	p.Trp325Leu	p.W325L	ENST00000442080	NM_001146686.2	325	tGg/tTg	0	not done		probablydamaging	
PMS1		inserm.fr	GRCh37	2	190660615	190660615	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1775T																					ENST00000441310.2:c.253G>A	p.Glu85Lys	p.E85K	ENST00000441310	NM_000534.4	85	Gaa/Aaa	0	validated		benign	
PMS1		inserm.fr	GRCh37	2	190719276	190719276	+	synonymous_variant	Silent	SNP	T	A	A			CHC121T																					ENST00000441310.2:c.1278T>A	p.Ser426=	p.S426=	ENST00000441310	NM_000534.4	426	tcT/tcA	0	validated		synonymous	
PMS1		inserm.fr	GRCh37	2	190719491	190719491	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000441310.2:c.1493G>A	p.Trp498Ter	p.W498*	ENST00000441310	NM_000534.4	498	tGg/tAg	0	not done		damaging	
TUBB7P		inserm.fr	GRCh37	4	190903858	190903858	+	non_coding_transcript_exon_variant	RNA	SNP	C	A	A			CHC433T									Valid												ENST00000428444.2:n.1125G>T		*375*	ENST00000428444				0	validated		damaging	
FRG2		inserm.fr	GRCh37	4	190947153	190947153	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1154T																					ENST00000378763.1:c.400A>T	p.Asn134Tyr	p.N134Y	ENST00000378763	NM_001005217.1	134	Aac/Tac	0	not done		probablydamaging	
CACNA2D4		inserm.fr	GRCh37	12	1909584	1909584	+	synonymous_variant	Silent	SNP	C	A	A			CHC197T																					ENST00000382722.5:c.2889G>T	p.Thr963=	p.T963=	ENST00000382722	NM_172364.4	963	acG/acT	0	validated		synonymous	
HIBCH		inserm.fr	GRCh37	2	191069917	191069917	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC912T																					ENST00000359678.5:c.1087G>T	p.Asp363Tyr	p.D363Y	ENST00000359678	NM_198047.2	363	Gat/Tat	0	validated		possiblydamaging	
CACNA2D4		inserm.fr	GRCh37	12	1910768	1910768	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000382722.5:c.2764C>T	p.Gln922Ter	p.Q922*	ENST00000382722	NM_172364.4	922	Cag/Tag	0	not done		damaging	
PLIN2		inserm.fr	GRCh37	9	19116609	19116609	+	synonymous_variant	Silent	SNP	C	A	A			CHC892T																					ENST00000276914.2:c.951G>T	p.Leu317=	p.L317=	ENST00000276914	NM_001122.3	317	ctG/ctT	0	not done		synonymous	
ITPRIPL2		inserm.fr	GRCh37	16	19125885	19125885	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000381440.3:c.102G>A	p.Gly34=	p.G34=	ENST00000381440	NM_001034841.3	34	ggG/ggA	0	not done		synonymous	
ADAT3		inserm.fr	GRCh37	19	1913038	1913038	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000329478.2:c.992G>A	p.Gly331Asp	p.G331D	ENST00000329478	NM_138422.2	331	gGc/gAc	0	not done		probablydamaging	
MFSD6		inserm.fr	GRCh37	2	191364867	191364867	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T																					ENST00000392328.1:c.2299C>A	p.Pro767Thr	p.P767T	ENST00000392328	NM_017694.3	767	Ccc/Acc	0	validated		benign	
GSC2		inserm.fr	GRCh37	22	19137254	19137254	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000086933.2:c.435C>T	p.Phe145=	p.F145=	ENST00000086933	NM_005315.1	145	ttC/ttT	0	not done		synonymous	
CLTCL1		inserm.fr	GRCh37	22	19170986	19170986	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2113T																					ENST00000263200.10:c.4744G>T	p.Val1582Leu	p.V1582L	ENST00000263200	NM_007098.3	1582	Gtg/Ttg	0	not done		benign	
TAS1R2		inserm.fr	GRCh37	1	19180866	19180866	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000375371.3:c.1098C>T	p.Cys366=	p.C366=	ENST00000375371	NM_152232.2	366	tgC/tgT	0	not done		synonymous	
TAS1R2		inserm.fr	GRCh37	1	19184081	19184081	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000375371.3:c.227G>T	p.Arg76Leu	p.R76L	ENST00000375371	NM_152232.2	76	cGc/cTc	0	not done		probablydamaging	
KIAA1751		inserm.fr	GRCh37	1	1918447	1918447	+	non_coding_transcript_exon_variant	RNA	SNP	C	A	A			CHC2052T																					ENST00000270720.7:n.480G>T		*160*	ENST00000270720				0	not done		probablydamaging	
FERD3L		inserm.fr	GRCh37	7	19184803	19184803	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000275461.3:c.183C>T	p.Asp61=	p.D61=	ENST00000275461	NM_152898.2	61	gaC/gaT	0	not done		synonymous	
ZDHHC13		inserm.fr	GRCh37	11	19184859	19184859	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000446113.2:c.1118G>A	p.Gly373Glu	p.G373E	ENST00000446113	NM_019028.2	373	gGa/gAa	0	not done		benign	
SCAMP4		inserm.fr	GRCh37	19	1918913	1918913	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000316097.8:c.319G>A	p.Ala107Thr	p.A107T	ENST00000316097	NM_079834.2	107	Gcg/Acg	0	not done		benign	
WHSC1		inserm.fr	GRCh37	4	1920031	1920031	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000382891.5:c.1091G>A	p.Gly364Asp	p.G364D	ENST00000382891	NM_133335.3	364	gGc/gAc	0	not done		possiblydamaging	
FGF12		inserm.fr	GRCh37	3	192078251	192078251	+	synonymous_variant	Silent	SNP	G	A	A			CHC2200T																					ENST00000454309.2:c.276C>T	p.Thr92=	p.T92=	ENST00000454309	NM_021032.4	92	acC/acT	0	not done		synonymous	
MYT1L		inserm.fr	GRCh37	2	1921066	1921066	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2029T																					ENST00000428368.2:c.1523G>T	p.Gly508Val	p.G508V	ENST00000428368		508	gGg/gTg	0	not done		probablydamaging	
FGF12		inserm.fr	GRCh37	3	192125979	192125979	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000454309.2:c.34C>T	p.Gln12Ter	p.Q12*	ENST00000454309	NM_021032.4	12	Cag/Tag	0	not done		damaging	
RGS21		inserm.fr	GRCh37	1	192321268	192321268	+	synonymous_variant	Silent	SNP	G	A	A			CHC1704T																					ENST00000417209.2:c.180G>A	p.Thr60=	p.T60=	ENST00000417209	NM_001039152.3	60	acG/acA	0	not done		synonymous	
EPN2		inserm.fr	GRCh37	17	19237510	19237510	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000314728.5:c.1869G>A	p.Val623=	p.V623=	ENST00000314728	NM_014964.4	623	gtG/gtA	0	not done		synonymous	
TMEM161A		inserm.fr	GRCh37	19	19243163	19243163	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC961T																					ENST00000162044.9:c.441C>T	p.Ser147=	p.S147=	ENST00000162044	NM_017814.2	147	tcC/tcT	0	validated		synonymous	
IFFO2		inserm.fr	GRCh37	1	19243471	19243471	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM337T																					ENST00000455833.2:c.1029G>T	p.Glu343Asp	p.E343D	ENST00000455833	NM_001136265.1	343	gaG/gaT	0	validated		benign	
TMEM161A		inserm.fr	GRCh37	19	19243513	19243513	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000162044.9:c.239C>T	p.Ala80Val	p.A80V	ENST00000162044	NM_017814.2	80	gCc/gTc	0	not done		benign	
E2F8		inserm.fr	GRCh37	11	19255970	19255970	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1061T																					ENST00000527884.1:c.865G>T	p.Val289Phe	p.V289F	ENST00000527884	NM_001256372.1	289	Gtt/Ttt	0	validated		possiblydamaging	
MEF2B		inserm.fr	GRCh37	19	19260116	19260116	+	synonymous_variant	Silent	SNP	G	A	A			BCM567T																					ENST00000162023.5:c.177C>T	p.Ser59=	p.S59=	ENST00000162023		59	agC/agT	0	validated		synonymous	
MYT1L		inserm.fr	GRCh37	2	1926302	1926302	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000428368.2:c.1239C>T	p.Thr413=	p.T413=	ENST00000428368		413	acC/acT	0	not done		synonymous	
ABHD3		inserm.fr	GRCh37	18	19284605	19284605	+	synonymous_variant	Silent	SNP	G	A	A			CHC793T																					ENST00000289119.2:c.22C>T	p.Leu8=	p.L8=	ENST00000289119	NM_138340.4	8	Ctg/Ttg	0	validated		synonymous	
MAPK7		inserm.fr	GRCh37	17	19284669	19284669	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000308406.5:c.1147G>A	p.Ala383Thr	p.A383T	ENST00000308406	NM_139033.2	383	Gct/Act	0	not done		benign	
MAPK7		inserm.fr	GRCh37	17	19284760	19284760	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000308406.5:c.1238G>A	p.Gly413Asp	p.G413D	ENST00000308406	NM_139033.2	413	gGc/gAc	0	not done		benign	
ATP13A5		inserm.fr	GRCh37	3	192992898	192992898	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1591T																					ENST00000342358.4:c.3590A>T	p.Gln1197Leu	p.Q1197L	ENST00000342358	NM_198505.2	1197	cAg/cTg	0	not done		benign	
ATP13A5		inserm.fr	GRCh37	3	193029609	193029609	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC433T									Valid												ENST00000342358.4:c.2441C>T	p.Pro814Leu	p.P814L	ENST00000342358	NM_198505.2	814	cCa/cTa	0	validated		probablydamaging	
ATP13A5		inserm.fr	GRCh37	3	193096460	193096460	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM483T																					ENST00000342358.4:c.55G>T	p.Asp19Tyr	p.D19Y	ENST00000342358	NM_198505.2	19	Gat/Tat	0	validated		benign	
CLEC19A		inserm.fr	GRCh37	16	19315503	19315503	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1148T																					ENST00000465414.1:c.374C>A	p.Pro125His	p.P125H	ENST00000465414		125	cCc/cAc	0	not done			
RNF112		inserm.fr	GRCh37	17	19319483	19319483	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000461366.1:c.1891G>A	p.Glu631Lys	p.E631K	ENST00000461366	NM_007148.4	631	Gag/Aag	0	not done		probablydamaging	
MIB1		inserm.fr	GRCh37	18	19321653	19321653	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000261537.6:c.109G>A	p.Gly37Ser	p.G37S	ENST00000261537	NM_020774.3	37	Ggc/Agc	0	not done		probablydamaging	
ATP13A4		inserm.fr	GRCh37	3	193272548	193272548	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC432T																					ENST00000342695.4:c.41A>T	p.Glu14Val	p.E14V	ENST00000342695	NM_032279.2	14	gAa/gTa	0	not done		benign	
NCAN		inserm.fr	GRCh37	19	19338271	19338271	+	synonymous_variant	Silent	SNP	C	A	A			CHC1065T																					ENST00000252575.6:c.1842C>A	p.Pro614=	p.P614=	ENST00000252575	NM_004386.2	614	ccC/ccA	0	validated		synonymous	
NCAN		inserm.fr	GRCh37	19	19345906	19345906	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000252575.6:c.3250+1G>A		p.X1084_splice	ENST00000252575	NM_004386.2			0	not done		damaging	
DENND4C		inserm.fr	GRCh37	9	19346828	19346828	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1746T																					ENST00000602925.1:c.3914C>A	p.Thr1305Asn	p.T1305N	ENST00000602925	NM_017925.5	1305	aCt/aAt	0	not done		possiblydamaging	
DENND4C		inserm.fr	GRCh37	9	19357153	19357153	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000602925.1:c.4817+1G>A		p.X1606_splice	ENST00000602925	NM_017925.5			0	not done		damaging	
MIB1		inserm.fr	GRCh37	18	19383960	19383960	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000261537.6:c.1464G>A	p.Val488=	p.V488=	ENST00000261537	NM_020774.3	488	gtG/gtA	0	not done		synonymous	
HES1		inserm.fr	GRCh37	3	193855500	193855500	+	synonymous_variant	Silent	SNP	G	A	A			CHC917T																					ENST00000232424.3:c.321G>A	p.Leu107=	p.L107=	ENST00000232424	NM_005524.3	107	ctG/ctA	0	validated		synonymous	
HES1		inserm.fr	GRCh37	3	193855869	193855869	+	synonymous_variant	Silent	SNP	T	A	A			CHC1763T																					ENST00000232424.3:c.690T>A	p.Ala230=	p.A230=	ENST00000232424	NM_005524.3	230	gcT/gcA	0	not done		synonymous	
HIRA		inserm.fr	GRCh37	22	19385603	19385603	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000263208.5:c.405G>T	p.Met135Ile	p.M135I	ENST00000263208	NM_003325.3	135	atG/atT	0	not done		probablydamaging	
MAP3K15		inserm.fr	GRCh37	X	19392697	19392697	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000338883.4:c.2671C>T	p.Pro891Ser	p.P891S	ENST00000338883	NM_001001671.3	891	Cct/Tct	0	not done		probablydamaging	
CPN2		inserm.fr	GRCh37	3	194063023	194063023	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1743T																					ENST00000323830.3:c.409C>T	p.Pro137Ser	p.P137S	ENST00000323830	NM_001080513.2	137	Ccc/Tcc	0	not done		benign	
LRRC15		inserm.fr	GRCh37	3	194080158	194080158	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000439944.2:c.1633C>T	p.Leu545=	p.L545=	ENST00000439944	NM_001135057.2	545	Ctg/Ttg	0	not done		synonymous	
LRRC15		inserm.fr	GRCh37	3	194080160	194080160	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB109T									Valid												ENST00000439944.2:c.1631G>T	p.Gly544Val	p.G544V	ENST00000439944	NM_001135057.2	544	gGg/gTg	0	validated		probablydamaging	
LRRC15		inserm.fr	GRCh37	3	194081624	194081624	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC097T																					ENST00000439944.2:c.167C>T	p.Pro56Leu	p.P56L	ENST00000439944	NM_001135057.2	56	cCt/cTt	0	not done		possiblydamaging	
MAP3K15		inserm.fr	GRCh37	X	19410136	19410136	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000338883.4:c.2415C>T	p.Cys805=	p.C805=	ENST00000338883	NM_001001671.3	805	tgC/tgT	0	not done		synonymous	
GP5		inserm.fr	GRCh37	3	194117554	194117554	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000401815.1:c.1458C>T	p.Ser486=	p.S486=	ENST00000401815		486	agC/agT	0	not done		synonymous	
GP5		inserm.fr	GRCh37	3	194117820	194117820	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000401815.1:c.1192C>T	p.Gln398Ter	p.Q398*	ENST00000401815		398	Cag/Tag	0	not done		damaging	
SUGP1		inserm.fr	GRCh37	19	19416733	19416733	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1756T																					ENST00000247001.5:c.463G>T	p.Ala155Ser	p.A155S	ENST00000247001	NM_172231.3	155	Gcg/Tcg	0	not done		benign	
SUGP1		inserm.fr	GRCh37	19	19416884	19416884	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC1186T																					ENST00000247001.5:c.312C>T	p.Asp104=	p.D104=	ENST00000247001	NM_172231.3	104	gaC/gaT	0	validated		possiblydamaging	
MIB1		inserm.fr	GRCh37	18	19424154	19424154	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000261537.6:c.2151G>A	p.Gln717=	p.Q717=	ENST00000261537	NM_020774.3	717	caG/caA	0	not done		synonymous	
UBR4		inserm.fr	GRCh37	1	19430681	19430681	+	synonymous_variant	Silent	SNP	C	A	A			BCM695T																					ENST00000375254.3:c.12798G>T	p.Val4266=	p.V4266=	ENST00000375254	NM_020765.2	4266	gtG/gtT	0	validated		synonymous	
UBR4		inserm.fr	GRCh37	1	19431115	19431115	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM617T																					ENST00000375254.3:c.12691G>T	p.Asp4231Tyr	p.D4231Y	ENST00000375254	NM_020765.2	4231	Gat/Tat	0	validated		probablydamaging	
FAM43A		inserm.fr	GRCh37	3	194407903	194407903	+	synonymous_variant	Silent	SNP	G	A	A			BCM545T																					ENST00000329759.4:c.348G>A	p.Gln116=	p.Q116=	ENST00000329759	NM_153690.4	116	caG/caA	0	validated		synonymous	
MAP3K15		inserm.fr	GRCh37	X	19444437	19444437	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1742T																					ENST00000338883.4:c.1191G>T	p.Gln397His	p.Q397H	ENST00000338883	NM_001001671.3	397	caG/caT	0	not done			
MAP3K15		inserm.fr	GRCh37	X	19449653	19449653	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC892T																					ENST00000338883.4:c.1069G>T	p.Gly357Cys	p.G357C	ENST00000338883	NM_001001671.3	357	Ggc/Tgc	0	not done			
MYT1L		inserm.fr	GRCh37	2	1946976	1946976	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2127T																					ENST00000428368.2:c.283G>T	p.Gly95Trp	p.G95W	ENST00000428368		95	Ggg/Tgg	0	not done		probablydamaging	
SLC47A1		inserm.fr	GRCh37	17	19470490	19470490	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1746T																					ENST00000270570.4:c.1258G>A	p.Gly420Ser	p.G420S	ENST00000270570	NM_018242.2	420	Ggc/Agc	0	not done		probablydamaging	
CDH18		inserm.fr	GRCh37	5	19473484	19473484	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1569T																					ENST00000507958.1:c.2224G>T	p.Gly742Cys	p.G742C	ENST00000507958		742	Ggt/Tgt	0	not done		probablydamaging	
CDH18		inserm.fr	GRCh37	5	19473485	19473485	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1569T																					ENST00000507958.1:c.2223G>T	p.Glu741Asp	p.E741D	ENST00000507958		741	gaG/gaT	0	not done		probablydamaging	
KCNH8		inserm.fr	GRCh37	3	19479854	19479854	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC155T									Valid												ENST00000328405.2:c.1375+1G>A		p.X459_splice	ENST00000328405	NM_144633.2			0	validated		damaging	
MAP3K15		inserm.fr	GRCh37	X	19482375	19482375	+	synonymous_variant	Silent	SNP	C	A	A			CHC1207T																					ENST00000338883.4:c.675G>T	p.Val225=	p.V225=	ENST00000338883	NM_001001671.3	225	gtG/gtT	0	validated		synonymous	
TMC5		inserm.fr	GRCh37	16	19483416	19483416	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000396229.2:c.1789C>A	p.Leu597Met	p.L597M	ENST00000396229	NM_001105248.1	597	Ctg/Atg	0	validated		probablydamaging	
ACAP2		inserm.fr	GRCh37	3	195015477	195015477	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC898T																					ENST00000326793.6:c.1736C>T	p.Thr579Met	p.T579M	ENST00000326793	NM_012287.5	579	aCg/aTg	0	not done		possiblydamaging	
CLDN5		inserm.fr	GRCh37	22	19511946	19511946	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000406028.1:c.88C>T	p.Pro30Ser	p.P30S	ENST00000406028		30	Ccc/Tcc	0	not done		benign	
UBR4		inserm.fr	GRCh37	1	19536638	19536638	+	synonymous_variant	Silent	SNP	G	A	A			BCB301T																					ENST00000375254.3:c.105C>T	p.Pro35=	p.P35=	ENST00000375254	NM_020765.2	35	ccC/ccT	0	validated		synonymous	
MUC20		inserm.fr	GRCh37	3	195453154	195453154	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000447234.2:c.1680G>A	p.Val560=	p.V560=	ENST00000447234	NM_001282506.1	560	gtG/gtA	0	not done		synonymous	
MUC4		inserm.fr	GRCh37	3	195479269	195479269	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM257T																					ENST00000463781.3:c.15557C>T	p.Ala5186Val	p.A5186V	ENST00000463781	NM_018406.6	5186	gCc/gTc	0	validated		probablydamaging	
MUC4		inserm.fr	GRCh37	3	195489093	195489093	+	synonymous_variant	Silent	SNP	G	A	A			CHC1731T																					ENST00000463781.3:c.14377C>T	p.Leu4793=	p.L4793=	ENST00000463781	NM_018406.6	4793	Ctg/Ttg	0	not done		synonymous	
MUC4		inserm.fr	GRCh37	3	195490502	195490502	+	synonymous_variant	Silent	SNP	G	A	A			CHC898T																					ENST00000463781.3:c.14055C>T	p.Phe4685=	p.F4685=	ENST00000463781	NM_018406.6	4685	ttC/ttT	0	not done		synonymous	
MUC4		inserm.fr	GRCh37	3	195517532	195517532	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000463781.3:c.919C>T	p.Pro307Ser	p.P307S	ENST00000463781	NM_018406.6	307	Cca/Tca	0	not done		benign	
MUC4		inserm.fr	GRCh37	3	195538650	195538650	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000463781.3:c.39C>T	p.Ser13=	p.S13=	ENST00000463781	NM_018406.6	13	tcC/tcT	0	not done		synonymous	
KCNH8		inserm.fr	GRCh37	3	19554730	19554730	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000328405.2:c.2348C>A	p.Pro783His	p.P783H	ENST00000328405	NM_144633.2	783	cCc/cAc	0	not done		possiblydamaging	
TNK2		inserm.fr	GRCh37	3	195594340	195594340	+	synonymous_variant	Silent	SNP	G	A	A			CHC1756T																					ENST00000381916.2:c.3018C>T	p.Ser1006=	p.S1006=	ENST00000381916	NM_001010938.1	1006	agC/agT	0	not done		synonymous	
TNK2		inserm.fr	GRCh37	3	195595224	195595224	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1725T																					ENST00000381916.2:c.2134G>T	p.Ala712Ser	p.A712S	ENST00000381916	NM_001010938.1	712	Gcc/Tcc	0	not done		possiblydamaging	
MRTO4		inserm.fr	GRCh37	1	19584362	19584362	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC197T									Valid												ENST00000330263.4:c.377G>A	p.Arg126Gln	p.R126Q	ENST00000330263	NM_016183.3	126	cGa/cAa	0	validated		probablydamaging	
HIC1		inserm.fr	GRCh37	17	1960587	1960587	+	synonymous_variant	Silent	SNP	G	A	A			CHC1154T																					ENST00000322941.3:c.660G>A	p.Ala220=	p.A220=	ENST00000322941	NM_001098202.1	220	gcG/gcA	0	not done		synonymous	
SLC47A2		inserm.fr	GRCh37	17	19606424	19606424	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000325411.5:c.1183C>T	p.His395Tyr	p.H395Y	ENST00000325411	NM_152908.3	395	Cat/Tat	0	not done		benign	
UBXN7		inserm.fr	GRCh37	3	196083593	196083593	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1185T																					ENST00000296328.4:c.1433G>T	p.Cys478Phe	p.C478F	ENST00000296328	NM_015562.1	478	tGt/tTt	0	not done		probablydamaging	
GATAD2A		inserm.fr	GRCh37	19	19609358	19609358	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC798T									Valid												ENST00000360315.3:c.1031G>A	p.Arg344Gln	p.R344Q	ENST00000360315	NM_017660.3	344	cGa/cAa	0	validated		probablydamaging	
AKR7A3		inserm.fr	GRCh37	1	19615023	19615023	+	synonymous_variant	Silent	SNP	G	A	A			CHC2034T																					ENST00000361640.4:c.181C>T	p.Leu61=	p.L61=	ENST00000361640	NM_012067.2	61	Ctg/Ttg	0	validated		synonymous	
KCNT2		inserm.fr	GRCh37	1	196197361	196197361	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC361TA																					ENST00000294725.9:c.3401A>T	p.Gln1134Leu	p.Q1134L	ENST00000294725		1134	cAa/cTa	0	validated		benign	
NDUFA13		inserm.fr	GRCh37	19	19627088	19627088	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000507754.4:c.41G>A	p.Gly14Glu	p.G14E	ENST00000507754		14	gGg/gAg	0	not done		probablydamaging	
WDR53		inserm.fr	GRCh37	3	196281569	196281569	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM439T																					ENST00000332629.5:c.590C>T	p.Pro197Leu	p.P197L	ENST00000332629	NM_182627.1	197	cCt/cTt	0	validated		probablydamaging	
WDR53		inserm.fr	GRCh37	3	196281603	196281603	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCB109T									Valid												ENST00000332629.5:c.556G>T	p.Glu186Ter	p.E186*	ENST00000332629	NM_182627.1	186	Gaa/Taa	0	validated		damaging	
YJEFN3		inserm.fr	GRCh37	19	19640174	19640174	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1545T																					ENST00000514277.4:c.61G>A	p.Ala21Thr	p.A21T	ENST00000514277	NM_198537.3	21	Gcc/Acc	0	validated		damaging	
PQLC2		inserm.fr	GRCh37	1	19651169	19651169	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000375153.3:c.207G>A	p.Ala69=	p.A69=	ENST00000375153	NM_001040125.1	69	gcG/gcA	0	validated		synonymous	
CILP2		inserm.fr	GRCh37	19	19651910	19651910	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000291495.5:c.447G>A	p.Trp149Ter	p.W149*	ENST00000291495	NM_153221.2	149	tgG/tgA	0	not done		damaging	
CILP2		inserm.fr	GRCh37	19	19653716	19653716	+	synonymous_variant	Silent	SNP	G	A	A			CHC789T																					ENST00000291495.5:c.912G>A	p.Glu304=	p.E304=	ENST00000291495	NM_153221.2	304	gaG/gaA	0	not done		synonymous	
CILP2		inserm.fr	GRCh37	19	19655076	19655076	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000291495.5:c.1722G>A	p.Glu574=	p.E574=	ENST00000291495	NM_153221.2	574	gaG/gaA	0	not done		synonymous	
CILP2		inserm.fr	GRCh37	19	19655736	19655736	+	synonymous_variant	Silent	SNP	C	A	A			CHC1055T																					ENST00000291495.5:c.2382C>A	p.Pro794=	p.P794=	ENST00000291495	NM_153221.2	794	ccC/ccA	0	validated		synonymous	
DNAH7		inserm.fr	GRCh37	2	196651804	196651804	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1611T																					ENST00000312428.6:c.10808C>T	p.Pro3603Leu	p.P3603L	ENST00000312428	NM_018897.2	3603	cCt/cTt	0	not done		probablydamaging	
DNAH7		inserm.fr	GRCh37	2	196651884	196651884	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1035T									Valid												ENST00000312428.6:c.10728G>T	p.Lys3576Asn	p.K3576N	ENST00000312428	NM_018897.2	3576	aaG/aaT	0	validated		probablydamaging	
PIGZ		inserm.fr	GRCh37	3	196675323	196675323	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000412723.1:c.445C>T	p.Pro149Ser	p.P149S	ENST00000412723	NM_025163.3	149	Ccg/Tcg	0	not done		probablydamaging	
CFH		inserm.fr	GRCh37	1	196706617	196706617	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2115T																					ENST00000367429.4:c.2609G>A	p.Cys870Tyr	p.C870Y	ENST00000367429	NM_000186.3	870	tGt/tAt	0	not done		probablydamaging	
DNAH7		inserm.fr	GRCh37	2	196720678	196720678	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM423T																					ENST00000312428.6:c.8452G>T	p.Ala2818Ser	p.A2818S	ENST00000312428	NM_018897.2	2818	Gct/Tct	0	validated		possiblydamaging	
DNAH7		inserm.fr	GRCh37	2	196728884	196728884	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2127T																					ENST00000312428.6:c.7495G>T	p.Asp2499Tyr	p.D2499Y	ENST00000312428	NM_018897.2	2499	Gac/Tac	0	not done		probablydamaging	
SLC24A3		inserm.fr	GRCh37	20	19673904	19673904	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000328041.6:c.1326G>A	p.Ser442=	p.S442=	ENST00000328041	NM_020689.3	442	tcG/tcA	0	not done		damaging	
DNAH7		inserm.fr	GRCh37	2	196753698	196753698	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB167T																					ENST00000312428.6:c.5054A>T	p.Asp1685Val	p.D1685V	ENST00000312428	NM_018897.2	1685	gAt/gTt	0	validated		probablydamaging	
DNAH7		inserm.fr	GRCh37	2	196756511	196756511	+	synonymous_variant	Silent	SNP	G	A	A			CHC205T																					ENST00000312428.6:c.4914C>T	p.Asn1638=	p.N1638=	ENST00000312428	NM_018897.2	1638	aaC/aaT	0	validated		synonymous	
PBX4		inserm.fr	GRCh37	19	19680268	19680268	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2128T																					ENST00000251203.9:c.758C>T	p.Thr253Ile	p.T253I	ENST00000251203	NM_025245.2	253	aCc/aTc	0	not done		probablydamaging	
DNAH7		inserm.fr	GRCh37	2	196825272	196825272	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB157T																					ENST00000312428.6:c.2603C>T	p.Ser868Leu	p.S868L	ENST00000312428	NM_018897.2	868	tCa/tTa	0	validated		benign	
DNAH7		inserm.fr	GRCh37	2	196825521	196825521	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC451T																					ENST00000312428.6:c.2354A>T	p.Glu785Val	p.E785V	ENST00000312428	NM_018897.2	785	gAa/gTa	0	validated		probablydamaging	
DNAH7		inserm.fr	GRCh37	2	196825600	196825600	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2206T																					ENST00000312428.6:c.2275A>T	p.Ile759Phe	p.I759F	ENST00000312428	NM_018897.2	759	Atc/Ttc	0	not done		possiblydamaging	
INTS10		inserm.fr	GRCh37	8	19687936	19687936	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000397977.3:c.1160G>A	p.Cys387Tyr	p.C387Y	ENST00000397977	NM_018142.2	387	tGt/tAt	0	not done		benign	
CFHR2		inserm.fr	GRCh37	1	196920127	196920127	+	synonymous_variant	Silent	SNP	C	A	A			CHC155T																					ENST00000367415.5:c.399C>A	p.Gly133=	p.G133=	ENST00000367415	NM_005666.2	133	ggC/ggA	0	validated		synonymous	
CFHR5		inserm.fr	GRCh37	1	196953165	196953165	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC258T									Valid												ENST00000256785.4:c.328G>A	p.Val110Ile	p.V110I	ENST00000256785		110	Gta/Ata	0	validated		possiblydamaging	
SH3KBP1		inserm.fr	GRCh37	X	19702112	19702112	+	synonymous_variant	Silent	SNP	C	A	A			CHC1594T																					ENST00000397821.3:c.555G>T	p.Gly185=	p.G185=	ENST00000397821	NM_031892.2	185	ggG/ggT	0	not done		synonymous	
ASPM		inserm.fr	GRCh37	1	197112853	197112853	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC2127T																					ENST00000367409.4:c.529A>T	p.Lys177Ter	p.K177*	ENST00000367409	NM_018136.4	177	Aaa/Taa	0	not done		damaging	
ULK2		inserm.fr	GRCh37	17	19713701	19713701	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2200T																					ENST00000395544.4:c.1147G>T	p.Val383Leu	p.V383L	ENST00000395544	NM_014683.3	383	Gtg/Ttg	0	not done		benign	
HECW2		inserm.fr	GRCh37	2	197172760	197172760	+	synonymous_variant	Silent	SNP	G	A	A			BCM769T																					ENST00000260983.3:c.2484C>T	p.His828=	p.H828=	ENST00000260983	NM_020760.1	828	caC/caT	0	validated		synonymous	
C16orf88		inserm.fr	GRCh37	16	19725759	19725759	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB111T									Valid												ENST00000219837.7:c.599G>T	p.Arg200Leu	p.R200L	ENST00000219837	NM_001012991.2	200	cGg/cTg	0	validated		possiblydamaging	
CRB1		inserm.fr	GRCh37	1	197390433	197390433	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000367400.3:c.1475G>A	p.Gly492Asp	p.G492D	ENST00000367400	NM_201253.2	492	gGc/gAc	0	not done		probablydamaging	
CRB1		inserm.fr	GRCh37	1	197396763	197396763	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1756T																					ENST00000367400.3:c.2308G>A	p.Gly770Ser	p.G770S	ENST00000367400	NM_201253.2	770	Ggc/Agc	0	not done		probablydamaging	
TWISTNB		inserm.fr	GRCh37	7	19739893	19739893	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2216T																					ENST00000222567.5:c.407A>T	p.Asn136Ile	p.N136I	ENST00000222567	NM_001002926.1	136	aAt/aTt	0	not done		probablydamaging	
TUBA3C		inserm.fr	GRCh37	13	19751263	19751263	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000400113.3:c.860C>T	p.Ser287Phe	p.S287F	ENST00000400113	NM_006001.2	287	tCc/tTc	0	not done		possiblydamaging	
GMIP		inserm.fr	GRCh37	19	19751329	19751329	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1616T																					ENST00000203556.4:c.290C>T	p.Ala97Val	p.A97V	ENST00000203556	NM_016573.2	97	gCc/gTc	0	not done		possiblydamaging	
TBX1		inserm.fr	GRCh37	22	19752511	19752511	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000332710.4:c.715C>A	p.Pro239Thr	p.P239T	ENST00000332710	NM_080647.1	239	Ccc/Acc	0	not done		probablydamaging	
CCDC150		inserm.fr	GRCh37	2	197586411	197586411	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2034T																					ENST00000389175.4:c.2425T>A	p.Phe809Ile	p.F809I	ENST00000389175	NM_001080539.1	809	Ttc/Atc	0	not done		probablydamaging	
TMEM196		inserm.fr	GRCh37	7	19765278	19765278	+	synonymous_variant	Silent	SNP	G	A	A			BCM617T																					ENST00000405764.3:c.318C>T	p.Ala106=	p.A106=	ENST00000405764	NM_152774.3	106	gcC/gcT	0	validated		synonymous	
ATP13A1		inserm.fr	GRCh37	19	19766402	19766402	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2115T																					ENST00000357324.6:c.1331C>T	p.Thr444Ile	p.T444I	ENST00000357324	NM_020410.2	444	aCc/aTc	0	not done		possiblydamaging	
LMLN		inserm.fr	GRCh37	3	197687156	197687156	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM695T																					ENST00000420910.2:c.64T>A	p.Ser22Thr	p.S22T	ENST00000420910	NM_001136049.2	22	Tca/Aca	0	validated		benign	
TMPRSS15		inserm.fr	GRCh37	21	19770216	19770216	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000284885.3:c.324C>T	p.Asn108=	p.N108=	ENST00000284885	NM_002772.2	108	aaC/aaT	0	not done		synonymous	
LMLN		inserm.fr	GRCh37	3	197748428	197748428	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1061T																					ENST00000420910.2:c.1588G>A	p.Gly530Ser	p.G530S	ENST00000420910	NM_001136049.2	530	Ggt/Agt	0	validated		probablydamaging	
CSNK1G2		inserm.fr	GRCh37	19	1979515	1979515	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC326T																					ENST00000255641.8:c.875G>A	p.Arg292His	p.R292H	ENST00000255641	NM_001319.6	292	cGc/cAc	0	validated		benign	
ZNF14		inserm.fr	GRCh37	19	19822617	19822617	+	synonymous_variant	Silent	SNP	T	A	A			CHC437T																					ENST00000344099.3:c.1473A>T	p.Arg491=	p.R491=	ENST00000344099	NM_021030.2	491	cgA/cgT	0	not done		synonymous	
C22orf29		inserm.fr	GRCh37	22	19839028	19839028	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1055T																					ENST00000405640.1:c.757G>T	p.Ala253Ser	p.A253S	ENST00000405640		253	Gct/Tct	0	validated		benign	
MOB4		inserm.fr	GRCh37	2	198415033	198415033	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000323303.4:c.469G>A	p.Gly157Arg	p.G157R	ENST00000323303	NM_015387.4	157	Gga/Aga	0	not done		possiblydamaging	
TXNRD2		inserm.fr	GRCh37	22	19864669	19864669	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC451T																					ENST00000400521.1:c.1534C>T	p.Arg512Cys	p.R512C	ENST00000400521	NM_006440.3	512	Cgc/Tgc	0	validated		probablydamaging	
PTPRC		inserm.fr	GRCh37	1	198663204	198663204	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000442510.2:c.100+1702G>A		*34*	ENST00000442510				0	not done			
PLCL1		inserm.fr	GRCh37	2	198669942	198669942	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000428675.1:c.119G>A	p.Gly40Asp	p.G40D	ENST00000428675	NM_006226.3	40	gGc/gAc	0	not done		benign	
PTPRC		inserm.fr	GRCh37	1	198678948	198678948	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1708T																					ENST00000442510.2:c.1166T>A	p.Phe389Tyr	p.F389Y	ENST00000442510		389	tTt/tAt	0	not done		benign	
PTPRC		inserm.fr	GRCh37	1	198687229	198687229	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1744T																					ENST00000442510.2:c.1457G>A	p.Ser486Asn	p.S486N	ENST00000442510		486	aGc/aAc	0	not done		benign	
RIN2		inserm.fr	GRCh37	20	19870281	19870281	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000255006.6:c.183C>A	p.Asp61Glu	p.D61E	ENST00000255006	NM_018993.3	61	gaC/gaA	0	not done		benign	
PTPRC		inserm.fr	GRCh37	1	198723402	198723402	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1736T																					ENST00000442510.2:c.3514G>A	p.Gly1172Arg	p.G1172R	ENST00000442510		1172	Gga/Aga	0	not done		probablydamaging	
PLCL1		inserm.fr	GRCh37	2	199011557	199011557	+	synonymous_variant	Silent	SNP	G	A	A			BCB157T																					ENST00000428675.1:c.3159G>A	p.Lys1053=	p.K1053=	ENST00000428675	NM_006226.3	1053	aaG/aaA	0	validated		synonymous	
CACNA2D4		inserm.fr	GRCh37	12	1994175	1994175	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC258T									Valid												ENST00000382722.5:c.1136A>T	p.Glu379Val	p.E379V	ENST00000382722	NM_172364.4	379	gAa/gTa	0	validated		probablydamaging	
NAV2		inserm.fr	GRCh37	11	19955142	19955142	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1602T																					ENST00000396087.3:c.1421C>A	p.Thr474Asn	p.T474N	ENST00000396087	NM_001244963.1	474	aCc/aAc	0	not done		benign	
NAV2		inserm.fr	GRCh37	11	19955375	19955375	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM339T																					ENST00000396087.3:c.1654G>A	p.Val552Met	p.V552M	ENST00000396087	NM_001244963.1	552	Gtg/Atg	0	validated		benign	
CXorf23		inserm.fr	GRCh37	X	19973560	19973560	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000379687.3:c.1399C>T	p.Pro467Ser	p.P467S	ENST00000379687	NM_198279.3	467	Cct/Tct	0	not done		benign	
EFHB		inserm.fr	GRCh37	3	19975095	19975095	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000295824.9:c.416C>T	p.Ala139Val	p.A139V	ENST00000295824	NM_144715.3	139	gCt/gTt	0	not done		benign	
ZNF253		inserm.fr	GRCh37	19	19990873	19990873	+	synonymous_variant	Silent	SNP	T	A	A			CHC2115T																					ENST00000589717.1:c.144T>A	p.Ser48=	p.S48=	ENST00000589717	NM_021047.2	48	tcT/tcA	0	not done		synonymous	
HTR6		inserm.fr	GRCh37	1	19992423	19992423	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM501T																					ENST00000289753.1:c.177C>A	p.Asn59Lys	p.N59K	ENST00000289753	NM_000871.1	59	aaC/aaA	0	validated		possiblydamaging	
HTR6		inserm.fr	GRCh37	1	19992642	19992642	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000289753.1:c.396G>A	p.Leu132=	p.L132=	ENST00000289753	NM_000871.1	132	ctG/ctA	0	not done		synonymous	
TPTE2		inserm.fr	GRCh37	13	19997212	19997212	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC437T																					ENST00000400230.2:c.1559G>T	p.Gly520Val	p.G520V	ENST00000400230		520	gGc/gTc	0	not done		benign	
SLC18A1		inserm.fr	GRCh37	8	20031889	20031889	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM703T																					ENST00000440926.1:c.614C>T	p.Ser205Leu	p.S205L	ENST00000440926	NM_001135691.2	205	tCa/tTa	0	validated		probablydamaging	
ZNF281		inserm.fr	GRCh37	1	200376601	200376601	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC437T																					ENST00000294740.3:c.2233C>T	p.Pro745Ser	p.P745S	ENST00000294740	NM_001281293.1	745	Cca/Tca	0	not done		possiblydamaging	
MYOM2		inserm.fr	GRCh37	8	2005793	2005793	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1747T																					ENST00000262113.4:c.455G>A	p.Arg152Lys	p.R152K	ENST00000262113	NM_003970.2	152	aGg/aAg	0	not done		possiblydamaging	
DDX59		inserm.fr	GRCh37	1	200635782	200635782	+	synonymous_variant	Silent	SNP	T	A	A			CHC1626T																					ENST00000331314.6:c.87A>T	p.Pro29=	p.P29=	ENST00000331314	NM_001031725.4	29	ccA/ccT	0	not done		synonymous	
DGCR8		inserm.fr	GRCh37	22	20078983	20078983	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000351989.3:c.1332G>A	p.Leu444=	p.L444=	ENST00000351989	NM_022720.6	444	ctG/ctA	0	not done		synonymous	
TYW5		inserm.fr	GRCh37	2	200797926	200797926	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1731T																					ENST00000354611.4:c.812C>T	p.Ala271Val	p.A271V	ENST00000354611	NM_001039693.2	271	gCa/gTa	0	not done		possiblydamaging	
C2orf47		inserm.fr	GRCh37	2	200820589	200820589	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000295079.2:c.68G>A	p.Arg23Gln	p.R23Q	ENST00000295079	NM_024520.2	23	cGa/cAa	0	not done		possiblydamaging	
C1orf106		inserm.fr	GRCh37	1	200877859	200877859	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000413687.2:c.576G>A	p.Glu192=	p.E192=	ENST00000413687	NM_001142569.2	192	gaG/gaA	0	not done		damaging	
DGCR8		inserm.fr	GRCh37	22	20093708	20093708	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC917T																					ENST00000351989.3:c.1797C>A	p.Asn599Lys	p.N599K	ENST00000351989	NM_022720.6	599	aaC/aaA	0	validated		probablydamaging	
KIF21B		inserm.fr	GRCh37	1	200945986	200945986	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T									Valid												ENST00000422435.2:c.4361G>T	p.Gly1454Val	p.G1454V	ENST00000422435	NM_001252100.1	1454	gGc/gTc	0	validated		probablydamaging	
KIF21B		inserm.fr	GRCh37	1	200958034	200958034	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC796T									Valid												ENST00000422435.2:c.3158C>T	p.Ala1053Val	p.A1053V	ENST00000422435	NM_001252100.1	1053	gCc/gTc	0	validated		probablydamaging	
KIF21B		inserm.fr	GRCh37	1	200977964	200977964	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1753T																					ENST00000422435.2:c.380G>T	p.Arg127Leu	p.R127L	ENST00000422435	NM_001252100.1	127	cGc/cTc	0	not done		possiblydamaging	
CACNA1S		inserm.fr	GRCh37	1	201022634	201022634	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1192T																					ENST00000362061.3:c.3748G>T	p.Ala1250Ser	p.A1250S	ENST00000362061	NM_000069.2	1250	Gca/Tca	0	not done		benign	
CACNA1S		inserm.fr	GRCh37	1	201035065	201035065	+	synonymous_variant	Silent	SNP	C	A	A			CHC1756T																					ENST00000362061.3:c.2754G>T	p.Val918=	p.V918=	ENST00000362061	NM_000069.2	918	gtG/gtT	0	not done		synonymous	
CACNA1S		inserm.fr	GRCh37	1	201046072	201046072	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000362061.3:c.1803C>T	p.Pro601=	p.P601=	ENST00000362061	NM_000069.2	601	ccC/ccT	0	not done		synonymous	
CACNA1S		inserm.fr	GRCh37	1	201047065	201047065	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000362061.3:c.1561C>T	p.Pro521Ser	p.P521S	ENST00000362061	NM_000069.2	521	Ccc/Tcc	0	not done		possiblydamaging	
CACNA1S		inserm.fr	GRCh37	1	201047159	201047159	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000362061.3:c.1467C>T	p.Arg489=	p.R489=	ENST00000362061	NM_000069.2	489	cgC/cgT	0	not done		synonymous	
SPECC1		inserm.fr	GRCh37	17	20108399	20108399	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1182T																					ENST00000261503.5:c.1037C>A	p.Thr346Asn	p.T346N	ENST00000261503	NM_001033553.2	346	aCc/aAc	0	not done		benign	
IGFN1		inserm.fr	GRCh37	1	201166407	201166407	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000335211.4:c.329G>A	p.Gly110Glu	p.G110E	ENST00000335211	NM_001164586.1	110	gGa/gAa	0	not done			
IGFN1		inserm.fr	GRCh37	1	201176698	201176698	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000335211.4:c.2677G>A	p.Ala893Thr	p.A893T	ENST00000335211	NM_001164586.1	893	Gct/Act	0	not done			
IGFN1		inserm.fr	GRCh37	1	201181351	201181351	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000335211.4:c.7330G>A	p.Gly2444Ser	p.G2444S	ENST00000335211	NM_001164586.1	2444	Ggc/Agc	0	not done			
IGFN1		inserm.fr	GRCh37	1	201186466	201186466	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000335211.4:c.9647G>A	p.Gly3216Asp	p.G3216D	ENST00000335211	NM_001164586.1	3216	gGc/gAc	0	not done		possiblydamaging	
C20orf26		inserm.fr	GRCh37	20	20123563	20123563	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1601T																					ENST00000245957.5:c.922G>A	p.Val308Ile	p.V308I	ENST00000245957	NM_015585.3	308	Gtc/Atc	0	not done		benign	
MBOAT1		inserm.fr	GRCh37	6	20126788	20126788	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC432T																					ENST00000324607.7:c.674A>T	p.Lys225Met	p.K225M	ENST00000324607	NM_001080480.2	225	aAg/aTg	0	not done		probablydamaging	
RPS2		inserm.fr	GRCh37	16	2012823	2012823	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1154T																					ENST00000343262.4:c.463A>T	p.Ile155Phe	p.I155F	ENST00000343262	NM_002952.3	155	Atc/Ttc	0	not done		probablydamaging	
PKP1		inserm.fr	GRCh37	1	201286812	201286812	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000263946.3:c.959C>A	p.Thr320Asn	p.T320N	ENST00000263946	NM_000299.3	320	aCc/aAc	0	not done		benign	
ZDHHC8		inserm.fr	GRCh37	22	20128764	20128764	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1591T																					ENST00000405930.3:c.919G>A	p.Asp307Asn	p.D307N	ENST00000405930	NM_001185024.1	307	Gat/Aat	0	not done		benign	
PKP1		inserm.fr	GRCh37	1	201288983	201288983	+	synonymous_variant	Silent	SNP	G	A	A			CHC1154T																					ENST00000263946.3:c.1272G>A	p.Pro424=	p.P424=	ENST00000263946	NM_000299.3	424	ccG/ccA	0	not done		synonymous	
PKP1		inserm.fr	GRCh37	1	201294097	201294097	+	synonymous_variant	Silent	SNP	G	A	A			CHC1753T																					ENST00000263946.3:c.1926G>A	p.Arg642=	p.R642=	ENST00000263946	NM_000299.3	642	agG/agA	0	not done		synonymous	
ZDHHC8		inserm.fr	GRCh37	22	20130308	20130308	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000405930.3:c.1155G>A	p.Gly385=	p.G385=	ENST00000405930	NM_001185024.1	385	ggG/ggA	0	not done		synonymous	
SPATS2L		inserm.fr	GRCh37	2	201303945	201303945	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000358677.5:c.546G>A	p.Glu182=	p.E182=	ENST00000358677	NM_015535.2	182	gaG/gaA	0	not done		synonymous	
WDR35		inserm.fr	GRCh37	2	20133173	20133173	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC796T																					ENST00000345530.3:c.2680C>T	p.His894Tyr	p.H894Y	ENST00000345530	NM_001006657.1	894	Cat/Tat	0	validated		benign	
SGOL2		inserm.fr	GRCh37	2	201436666	201436666	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000357799.4:c.1597G>A	p.Ala533Thr	p.A533T	ENST00000357799	NM_152524.5	533	Gct/Act	0	not done		possiblydamaging	
AOX1		inserm.fr	GRCh37	2	201457887	201457887	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC451T																					ENST00000374700.2:c.64G>A	p.Asp22Asn	p.D22N	ENST00000374700	NM_001159.3	22	Gat/Aat	0	validated		probablydamaging	
SPECC1		inserm.fr	GRCh37	17	20163534	20163534	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			BCM257T																					ENST00000261503.5:c.2867T>A	p.Leu956Ter	p.L956*	ENST00000261503	NM_001033553.2	956	tTg/tAg	0	validated		damaging	
C20orf26		inserm.fr	GRCh37	20	20177278	20177278	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000245957.5:c.1655G>A	p.Arg552His	p.R552H	ENST00000245957	NM_015585.3	552	cGc/cAc	0	not done		probablydamaging	
ORC2		inserm.fr	GRCh37	2	201778067	201778067	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T									Valid												ENST00000234296.2:c.1598G>T	p.Arg533Leu	p.R533L	ENST00000234296	NM_006190.4	533	cGg/cTg	0	validated		probablydamaging	
OR11H2		inserm.fr	GRCh37	14	20181489	20181489	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC121T																					ENST00000556246.1:n.591C>T		*197*	ENST00000556246				0	validated			
DBX1		inserm.fr	GRCh37	11	20181661	20181661	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000227256.3:c.210C>T	p.Ala70=	p.A70=	ENST00000227256	NM_001029865.2	70	gcC/gcT	0	not done		synonymous	
IPO9		inserm.fr	GRCh37	1	201817521	201817521	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000361565.4:c.313G>A	p.Ala105Thr	p.A105T	ENST00000361565	NM_018085.4	105	Gca/Aca	0	not done		possiblydamaging	
RPS6KA3		inserm.fr	GRCh37	X	20185706	20185706	+	splice_donor_variant	Splice_Site	SNP	C	A	A			BCM371T									Valid												ENST00000379565.3:c.1602+1G>T		p.X534_splice	ENST00000379565	NM_004586.2			0	validated		damaging	
RPS6KA3		inserm.fr	GRCh37	X	20185727	20185727	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1154T									Valid												ENST00000379565.3:c.1582G>T	p.Glu528Ter	p.E528*	ENST00000379565	NM_004586.2	528	Gaa/Taa	0	not done		damaging	
RPS6KA3		inserm.fr	GRCh37	X	20194611	20194611	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC258T									Valid												ENST00000379565.3:c.940G>T	p.Gly314Ter	p.G314*	ENST00000379565	NM_004586.2	314	Gga/Tga	0	validated		damaging	
ELF3		inserm.fr	GRCh37	1	201984366	201984366	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000359651.3:c.1031G>A	p.Arg344Gln	p.R344Q	ENST00000359651		344	cGg/cAg	0	validated		probablydamaging	
MACC1		inserm.fr	GRCh37	7	20199340	20199340	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC912T																					ENST00000400331.5:c.644C>T	p.Ala215Val	p.A215V	ENST00000400331	NM_182762.3	215	gCt/gTt	0	validated		benign	
PTPN7		inserm.fr	GRCh37	1	202121748	202121748	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000309017.3:c.1112C>T	p.Pro371Leu	p.P371L	ENST00000309017	NM_001199797.1	371	cCc/cTc	0	not done		probablydamaging	
MBOAT1		inserm.fr	GRCh37	6	20212408	20212408	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	G	A	A			CHC609T																					ENST00000449143.2:n.91G>A		p.X31_splice	ENST00000449143				0	validated		synonymous	
PTPN7		inserm.fr	GRCh37	1	202127390	202127390	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000309017.3:c.477C>T	p.Ser159=	p.S159=	ENST00000309017	NM_001199797.1	159	tcC/tcT	0	not done		synonymous	
LGR6		inserm.fr	GRCh37	1	202172964	202172964	+	intron_variant	Intron	SNP	T	A	A			CHC1137T																					ENST00000367278.3:c.212+9635T>A		*71*	ENST00000367278	NM_001017403.1			0	validated		damaging	
RPS6KA3		inserm.fr	GRCh37	X	20227408	20227408	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	A	A			BCM483T									Valid												ENST00000379565.3:c.241A>T	p.Lys81Ter	p.K81*	ENST00000379565	NM_004586.2	81	Aag/Tag	0	validated		damaging	
ALS2CR11		inserm.fr	GRCh37	2	202357606	202357606	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC889T																					ENST00000439140.1:c.3458G>T	p.Ser1153Ile	p.S1153I	ENST00000439140	NM_001168221.1	1153	aGt/aTt	0	not done		probablydamaging	
LAPTM4A		inserm.fr	GRCh37	2	20237165	20237165	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2029T																					ENST00000175091.4:c.344A>T	p.Tyr115Phe	p.Y115F	ENST00000175091	NM_014713.4	115	tAc/tTc	0	not done		probablydamaging	
C20orf26		inserm.fr	GRCh37	20	20243683	20243683	+	synonymous_variant	Silent	SNP	G	A	A			CHC1061T																					ENST00000245957.5:c.2412G>A	p.Gly804=	p.G804=	ENST00000245957	NM_015585.3	804	ggG/ggA	0	validated		synonymous	
TBL3		inserm.fr	GRCh37	16	2024545	2024545	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2029T																					ENST00000568546.1:c.244G>A	p.Val82Met	p.V82M	ENST00000568546	NM_006453.2	82	Gtg/Atg	0	not done		probablydamaging	
PLA2G2E		inserm.fr	GRCh37	1	20249236	20249236	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1756T																					ENST00000375116.3:c.53C>T	p.Thr18Ile	p.T18I	ENST00000375116	NM_014589.2	18	aCc/aTc	0	not done		benign	
PPP1R12B		inserm.fr	GRCh37	1	202531976	202531976	+	synonymous_variant	Silent	SNP	C	A	A			CHC1751T																					ENST00000608999.1:c.2578C>A	p.Arg860=	p.R860=	ENST00000608999	NM_002481.3	860	Cgg/Agg	0	not done		synonymous	
SLIT2		inserm.fr	GRCh37	4	20255471	20255471	+	synonymous_variant	Silent	SNP	G	A	A			CHC218T																					ENST00000504154.1:c.33G>A	p.Leu11=	p.L11=	ENST00000504154	NM_004787.1	11	ctG/ctA	0	not done		synonymous	
KDM5B		inserm.fr	GRCh37	1	202731921	202731921	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1594T																					ENST00000367265.3:c.824G>T	p.Ser275Ile	p.S275I	ENST00000367265	NM_006618.3	275	aGt/aTt	0	not done		benign	
RPS6KA3		inserm.fr	GRCh37	X	20284689	20284689	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1044T									Valid												ENST00000379565.3:c.62G>T	p.Ser21Ile	p.S21I	ENST00000379565	NM_004586.2	21	aGc/aTc	0	not done		benign	
FZD7		inserm.fr	GRCh37	2	202900264	202900264	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000286201.1:c.894G>A	p.Met298Ile	p.M298I	ENST00000286201	NM_003507.1	298	atG/atA	0	not done		benign	
FZD7		inserm.fr	GRCh37	2	202900374	202900374	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000286201.1:c.1004G>A	p.Gly335Asp	p.G335D	ENST00000286201	NM_003507.1	335	gGc/gAc	0	not done		probablydamaging	
FZD7		inserm.fr	GRCh37	2	202900651	202900651	+	synonymous_variant	Silent	SNP	G	A	A			BCM265T																					ENST00000286201.1:c.1281G>A	p.Ala427=	p.A427=	ENST00000286201	NM_003507.1	427	gcG/gcA	0	validated		synonymous	
PLXDC2		inserm.fr	GRCh37	10	20290817	20290817	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1746T																					ENST00000377252.4:c.226G>A	p.Asp76Asn	p.D76N	ENST00000377252	NM_032812.7	76	Gac/Aac	0	not done		benign	
CYB5R1		inserm.fr	GRCh37	1	202934515	202934515	+	synonymous_variant	Silent	SNP	G	A	A			CHC451T																					ENST00000367249.4:c.459C>T	p.Leu153=	p.L153=	ENST00000367249	NM_016243.2	153	ctC/ctT	0	not done		synonymous	
OR4N2		inserm.fr	GRCh37	14	20295784	20295784	+	synonymous_variant	Silent	SNP	C	A	A			CHC1756T																					ENST00000315947.1:c.177C>A	p.Leu59=	p.L59=	ENST00000315947	NM_001004723.1	59	ctC/ctA	0	not done		synonymous	
OR4N2		inserm.fr	GRCh37	14	20295971	20295971	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000315947.1:c.364C>A	p.Arg122Ser	p.R122S	ENST00000315947	NM_001004723.1	122	Cgc/Agc	0	not done		probablydamaging	
PPFIA4		inserm.fr	GRCh37	1	203015438	203015438	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC892T																								ENST00000272198	NM_015053.1			0	not done		synonymous	
PPFIA4		inserm.fr	GRCh37	1	203022984	203022984	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000272198.6:c.206G>A	p.Gly69Asp	p.G69D	ENST00000272198	NM_015053.1	69	gGt/gAt	0	not done		benign	
MYOG		inserm.fr	GRCh37	1	203054791	203054791	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC798T																					ENST00000241651.4:c.299C>T	p.Ala100Val	p.A100V	ENST00000241651	NM_002479.5	100	gCc/gTc	0	validated		possiblydamaging	
ZNF486		inserm.fr	GRCh37	19	20308110	20308110	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC429T																					ENST00000335117.8:c.591T>A	p.His197Gln	p.H197Q	ENST00000335117	NM_052852.3	197	caT/caA	0	validated		possiblydamaging	
CHIT1		inserm.fr	GRCh37	1	203194939	203194939	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1185T																					ENST00000367229.1:c.115G>T	p.Ala39Ser	p.A39S	ENST00000367229	NM_003465.2	39	Gct/Tct	0	not done		benign	
BTG2		inserm.fr	GRCh37	1	203274877	203274877	+	splice_donor_variant	Splice_Site	SNP	G	A	A			BCM783T																					ENST00000290551.4:c.142+1G>A		p.X48_splice	ENST00000290551	NM_006763.2			0	validated		damaging	
GP2		inserm.fr	GRCh37	16	20335291	20335291	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000381362.4:c.382C>T	p.Leu128Phe	p.L128F	ENST00000381362	NM_001007240.1	128	Ctt/Ttt	0	not done		benign	
BMPR2		inserm.fr	GRCh37	2	203421246	203421246	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1207T																					ENST00000374580.4:c.2858G>A	p.Ser953Asn	p.S953N	ENST00000374580	NM_001204.6	953	aGt/aAt	0	not done		benign	
OR4K2		inserm.fr	GRCh37	14	20344493	20344493	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC469T																					ENST00000298642.2:c.67C>A	p.Leu23Ile	p.L23I	ENST00000298642	NM_001005501.1	23	Cta/Ata	0	validated		benign	
OR4K2		inserm.fr	GRCh37	14	20345153	20345153	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC736T									Valid												ENST00000298642.2:c.727C>A	p.His243Asn	p.H243N	ENST00000298642	NM_001005501.1	243	Cat/Aat	0	validated		probablydamaging	
PSPC1		inserm.fr	GRCh37	13	20346398	20346398	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1594T																					ENST00000338910.4:c.658G>T	p.Ala220Ser	p.A220S	ENST00000338910	NM_001042414.2	220	Gca/Tca	0	not done		benign	
MLLT3		inserm.fr	GRCh37	9	20346464	20346464	+	synonymous_variant	Silent	SNP	G	A	A			BCM543T																					ENST00000380338.4:c.1684C>T	p.Leu562=	p.L562=	ENST00000380338	NM_004529.2	562	Ctg/Ttg	0	validated		synonymous	
UMOD		inserm.fr	GRCh37	16	20352504	20352504	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000570689.1:c.1486C>T	p.Leu496=	p.L496=	ENST00000570689		496	Ctg/Ttg	0	not done		synonymous	
GFER		inserm.fr	GRCh37	16	2035917	2035917	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1566T																					ENST00000248114.6:c.506G>A	p.Trp169Ter	p.W169*	ENST00000248114	NM_005262.2	169	tGg/tAg	0	not done		damaging	
UMOD		inserm.fr	GRCh37	16	20360193	20360193	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1534T																					ENST00000570689.1:c.430G>T	p.Asp144Tyr	p.D144Y	ENST00000570689		144	Gat/Tat	0	validated		probablydamaging	
FAM117B		inserm.fr	GRCh37	2	203630220	203630220	+	synonymous_variant	Silent	SNP	G	A	A			CHC898T																					ENST00000392238.2:c.1503G>A	p.Lys501=	p.K501=	ENST00000392238		501	aaG/aaA	0	not done		synonymous	
ICA1L		inserm.fr	GRCh37	2	203676509	203676509	+	synonymous_variant	Silent	SNP	T	A	A			BCM703T																					ENST00000392237.2:c.870A>T	p.Leu290=	p.L290=	ENST00000392237	NM_138468.4	290	ctA/ctT	0	validated		synonymous	
ATP2B4		inserm.fr	GRCh37	1	203680102	203680102	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000357681.5:c.1897G>A	p.Asp633Asn	p.D633N	ENST00000357681	NM_001684.4	633	Gat/Aat	0	not done		benign	
ZC3H11A		inserm.fr	GRCh37	1	203800791	203800791	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000545588.1:c.703G>A	p.Gly235Ser	p.G235S	ENST00000545588	NM_001271675.1	235	Ggt/Agt	0	not done		probablydamaging	
NBEAL1		inserm.fr	GRCh37	2	203948002	203948002	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2206T																					ENST00000449802.1:c.745G>A	p.Asp249Asn	p.D249N	ENST00000449802	NM_001114132.1	249	Gat/Aat	0	not done		probablydamaging	
NBEAL1		inserm.fr	GRCh37	2	203996736	203996736	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000449802.1:c.3518G>A	p.Arg1173His	p.R1173H	ENST00000449802	NM_001114132.1	1173	cGt/cAt	0	validated		probablydamaging	
NBEAL1		inserm.fr	GRCh37	2	204009520	204009520	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1209T																					ENST00000449802.1:c.4959G>A	p.Met1653Ile	p.M1653I	ENST00000449802	NM_001114132.1	1653	atG/atA	0	not done		probablydamaging	
OR4K1		inserm.fr	GRCh37	14	20404306	20404306	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000285600.4:c.481G>A	p.Ala161Thr	p.A161T	ENST00000285600	NM_001004063.2	161	Gct/Act	0	not done		benign	
MLLT3		inserm.fr	GRCh37	9	20414421	20414421	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC794T																					ENST00000380338.4:c.423C>T	p.Asp141=	p.D141=	ENST00000380338	NM_004529.2	141	gaC/gaT	0	validated		synonymous	
MAD1L1		inserm.fr	GRCh37	7	2041745	2041745	+	synonymous_variant	Silent	SNP	C	A	A			CHC1211T																					ENST00000406869.1:c.1371G>T	p.Ser457=	p.S457=	ENST00000406869		457	tcG/tcT	0	not done		synonymous	
ITGB8		inserm.fr	GRCh37	7	20418822	20418822	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC304T																					ENST00000222573.4:c.537T>A	p.Phe179Leu	p.F179L	ENST00000222573	NM_002214.2	179	ttT/ttA	0	validated		benign	
PLEKHA6		inserm.fr	GRCh37	1	204226872	204226872	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000272203.3:c.1133C>T	p.Pro378Leu	p.P378L	ENST00000272203	NM_014935.4	378	cCg/cTg	0	validated		probablydamaging	
RAPH1		inserm.fr	GRCh37	2	204304254	204304254	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1597T																					ENST00000319170.5:c.3659G>T	p.Gly1220Val	p.G1220V	ENST00000319170	NM_213589.1	1220	gGc/gTc	0	not done		benign	
RAPH1		inserm.fr	GRCh37	2	204304491	204304491	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM265T																					ENST00000319170.5:c.3422A>T	p.Gln1141Leu	p.Q1141L	ENST00000319170	NM_213589.1	1141	cAg/cTg	0	validated		benign	
ITGB8		inserm.fr	GRCh37	7	20438534	20438534	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1743T																					ENST00000222573.4:c.1198T>A	p.Tyr400Asn	p.Y400N	ENST00000222573	NM_002214.2	400	Tat/Aat	0	not done		benign	
PIK3C2B		inserm.fr	GRCh37	1	204396842	204396842	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM339T																					ENST00000367187.3:c.4521G>T	p.Glu1507Asp	p.E1507D	ENST00000367187	NM_002646.3	1507	gaG/gaT	0	validated		probablydamaging	
PIK3C2B		inserm.fr	GRCh37	1	204438070	204438070	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000367187.3:c.861C>T	p.Arg287=	p.R287=	ENST00000367187	NM_002646.3	287	cgC/cgT	0	not done		synonymous	
ITGB8		inserm.fr	GRCh37	7	20444376	20444376	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000222573.4:c.1813G>A	p.Gly605Ser	p.G605S	ENST00000222573	NM_002214.2	605	Ggc/Agc	0	not done		probablydamaging	
PUM2		inserm.fr	GRCh37	2	20490476	20490476	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000338086.5:c.1228G>T	p.Ala410Ser	p.A410S	ENST00000338086	NM_015317.1	410	Gcg/Tcg	0	not done		possiblydamaging	
NFASC		inserm.fr	GRCh37	1	204923478	204923478	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000339876.6:c.378G>A	p.Thr126=	p.T126=	ENST00000339876	NM_001005388.2	126	acG/acA	0	not done		synonymous	
NFASC		inserm.fr	GRCh37	1	204943796	204943796	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000339876.6:c.1403G>A	p.Gly468Glu	p.G468E	ENST00000339876	NM_001005388.2	468	gGg/gAg	0	not done		benign	
NFASC		inserm.fr	GRCh37	1	204955053	204955053	+	intron_variant	Intron	SNP	G	A	A			CHC1592T																					ENST00000339876.6:c.2471-1493G>A		*824*	ENST00000339876	NM_001005388.2			0	not done			
OR4K13		inserm.fr	GRCh37	14	20502327	20502327	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000315693.2:c.591C>T	p.Leu197=	p.L197=	ENST00000315693	NM_001004714.1	197	ctC/ctT	0	not done		synonymous	
TMCC2		inserm.fr	GRCh37	1	205211037	205211037	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000358024.3:c.612C>A	p.Asp204Glu	p.D204E	ENST00000358024	NM_014858.3	204	gaC/gaA	0	not done		probablydamaging	
TMCC2		inserm.fr	GRCh37	1	205211169	205211169	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2128T																					ENST00000358024.3:c.744C>A	p.Asp248Glu	p.D248E	ENST00000358024	NM_014858.3	248	gaC/gaA	0	not done		probablydamaging	
PDE3A		inserm.fr	GRCh37	12	20522225	20522225	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM275T																					ENST00000359062.3:c.7G>A	p.Val3Met	p.V3M	ENST00000359062	NM_001244683.1	3	Gtg/Atg	0	validated		benign	
PDE3A		inserm.fr	GRCh37	12	20522665	20522665	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1044T																					ENST00000359062.3:c.447C>A	p.Tyr149Ter	p.Y149*	ENST00000359062	NM_001244683.1	149	taC/taA	0	not done		damaging	
NUAK2		inserm.fr	GRCh37	1	205273593	205273593	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1602T																					ENST00000367157.3:c.872G>T	p.Arg291Leu	p.R291L	ENST00000367157	NM_030952.1	291	cGg/cTg	0	not done		probablydamaging	
MYOM2		inserm.fr	GRCh37	8	2057201	2057201	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000262113.4:c.3059C>A	p.Ser1020Ter	p.S1020*	ENST00000262113	NM_003970.2	1020	tCg/tAg	0	not done		damaging	
RBBP8		inserm.fr	GRCh37	18	20572877	20572877	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1720T																					ENST00000399722.2:c.1087C>A	p.Pro363Thr	p.P363T	ENST00000399722	NM_203291.1	363	Cct/Act	0	not done		possiblydamaging	
ZMYM2		inserm.fr	GRCh37	13	20580700	20580700	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1746T																					ENST00000382869.3:c.1486C>A	p.Gln496Lys	p.Q496K	ENST00000382869	NM_001190965.1	496	Caa/Aaa	0	not done		probablydamaging	
OR4K17		inserm.fr	GRCh37	14	20585844	20585844	+	synonymous_variant	Silent	SNP	C	A	A			CHC1568T																					ENST00000315543.4:c.279C>A	p.Leu93=	p.L93=	ENST00000315543	NM_001004715.1	93	ctC/ctA	0	not done		synonymous	
PARD3B		inserm.fr	GRCh37	2	205983655	205983655	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC434T									Valid												ENST00000358768.2:c.691C>A	p.Leu231Ile	p.L231I	ENST00000358768		231	Ctc/Atc	0	validated		probablydamaging	
OR4N5		inserm.fr	GRCh37	14	20612338	20612338	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000333629.1:c.444G>A	p.Leu148=	p.L148=	ENST00000333629	NM_001004724.1	148	ctG/ctA	0	not done		synonymous	
NAT8L		inserm.fr	GRCh37	4	2061466	2061466	+	synonymous_variant	Silent	SNP	C	A	A			CHC2358T																					ENST00000423729.2:c.228C>A	p.Arg76=	p.R76=	ENST00000423729	NM_178557.3	76	cgC/cgA	0	validated		synonymous	
NAT8L		inserm.fr	GRCh37	4	2061583	2061583	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000423729.2:c.345G>A	p.Pro115=	p.P115=	ENST00000423729	NM_178557.3	115	ccG/ccA	0	validated		synonymous	
DCP1B		inserm.fr	GRCh37	12	2061760	2061760	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2115T																					ENST00000280665.6:c.1346C>T	p.Pro449Leu	p.P449L	ENST00000280665	NM_152640.3	449	cCt/cTt	0	not done		benign	
RHOB		inserm.fr	GRCh37	2	20647230	20647230	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000272233.4:c.4G>A	p.Ala2Thr	p.A2T	ENST00000272233	NM_004040.2	2	Gcg/Acg	0	not done		benign	
RHOB		inserm.fr	GRCh37	2	20647784	20647784	+	synonymous_variant	Silent	SNP	G	A	A			BCM617T																					ENST00000272233.4:c.558G>A	p.Gln186=	p.Q186=	ENST00000272233	NM_004040.2	186	caG/caA	0	validated		synonymous	
SLC6A5		inserm.fr	GRCh37	11	20648257	20648257	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000525748.1:c.1264G>A	p.Val422Met	p.V422M	ENST00000525748	NM_004211.3	422	Gtg/Atg	0	not done		probablydamaging	
ACSM1		inserm.fr	GRCh37	16	20648741	20648741	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM723T																					ENST00000307493.4:c.1149G>T	p.Lys383Asn	p.K383N	ENST00000307493	NM_052956.2	383	aaG/aaT	0	validated		probablydamaging	
NRP2		inserm.fr	GRCh37	2	206587304	206587304	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM723T																					ENST00000360409.3:c.536T>A	p.Ile179Asn	p.I179N	ENST00000360409	NM_003872.2	179	aTc/aAc	0	validated		probablydamaging	
SLC6A5		inserm.fr	GRCh37	11	20658750	20658750	+	synonymous_variant	Silent	SNP	C	A	A			CHC1061T																					ENST00000525748.1:c.1770C>A	p.Ile590=	p.I590=	ENST00000525748	NM_004211.3	590	atC/atA	0	validated		synonymous	
EIF2D		inserm.fr	GRCh37	1	206772410	206772410	+	synonymous_variant	Silent	SNP	C	A	A			BCM531T																					ENST00000271764.2:c.1239G>T	p.Thr413=	p.T413=	ENST00000271764	NM_006893.2	413	acG/acT	0	validated		synonymous	
DYRK3		inserm.fr	GRCh37	1	206822058	206822058	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000367109.2:c.1515G>A	p.Trp505Ter	p.W505*	ENST00000367109	NM_003582.2	505	tgG/tgA	0	not done		damaging	
ABCB5		inserm.fr	GRCh37	7	20689690	20689690	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB325T									Valid												ENST00000404938.2:c.1252G>A	p.Ala418Thr	p.A418T	ENST00000404938	NM_001163941.1	418	Gcc/Acc	0	validated		probablydamaging	
ABCB5		inserm.fr	GRCh37	7	20691171	20691171	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC320T																					ENST00000404938.2:c.1461T>A	p.Asp487Glu	p.D487E	ENST00000404938	NM_001163941.1	487	gaT/gaA	0	validated		benign	
NDUFS1		inserm.fr	GRCh37	2	206991561	206991561	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000455934.2:c.1934G>T	p.Gly645Val	p.G645V	ENST00000455934	NM_001199984.1	645	gGa/gTa	0	not done		probablydamaging	
NDUFS1		inserm.fr	GRCh37	2	207014645	207014645	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1744T																					ENST00000455934.2:c.200G>T	p.Cys67Phe	p.C67F	ENST00000455934	NM_001199984.1	67	tGt/tTt	0	not done		probablydamaging	
FAIM3		inserm.fr	GRCh37	1	207086338	207086338	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC736T									Valid												ENST00000367091.3:c.423G>T	p.Trp141Cys	p.W141C	ENST00000367091	NM_005449.4	141	tgG/tgT	0	validated		probablydamaging	
GJA3		inserm.fr	GRCh37	13	20716308	20716308	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000241125.3:c.1120C>T	p.Leu374=	p.L374=	ENST00000241125	NM_021954.3	374	Ctg/Ttg	0	not done		synonymous	
GJA3		inserm.fr	GRCh37	13	20717202	20717202	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB151T																					ENST00000241125.3:c.226C>T	p.Arg76Cys	p.R76C	ENST00000241125	NM_021954.3	76	Cgc/Tgc	0	validated		probablydamaging	
PFKFB2		inserm.fr	GRCh37	1	207243677	207243677	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000367080.3:c.1145G>A	p.Arg382His	p.R382H	ENST00000367080	NM_006212.2	382	cGt/cAt	0	validated		probablydamaging	
C4BPB		inserm.fr	GRCh37	1	207273148	207273148	+	synonymous_variant	Silent	SNP	G	A	A			CHC303T																					ENST00000243611.5:c.633G>A	p.Glu211=	p.E211=	ENST00000243611	NM_000716.3	211	gaG/gaA	0	validated		synonymous	
ZNF737		inserm.fr	GRCh37	19	20727968	20727968	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000427401.4:c.1041C>T	p.Gly347=	p.G347=	ENST00000427401	NM_001159293.1	347	ggC/ggT	0	not done		synonymous	
ZNF737		inserm.fr	GRCh37	19	20728495	20728495	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1177T																					ENST00000427401.4:c.514C>T	p.Pro172Ser	p.P172S	ENST00000427401	NM_001159293.1	172	Cct/Tct	0	not done		benign	
C4BPA		inserm.fr	GRCh37	1	207287553	207287553	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000367070.3:c.251G>A	p.Gly84Asp	p.G84D	ENST00000367070	NM_000715.3	84	gGc/gAc	0	not done		probablydamaging	
ADAM23		inserm.fr	GRCh37	2	207345992	207345992	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC433T									Valid												ENST00000264377.3:c.469G>A	p.Ala157Thr	p.A157T	ENST00000264377	NM_003812.3	157	Gcc/Acc	0	validated		possiblydamaging	
ADAM23		inserm.fr	GRCh37	2	207424806	207424806	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC451T																					ENST00000264377.3:c.1133G>A	p.Arg378His	p.R378H	ENST00000264377	NM_003812.3	378	cGc/cAc	0	validated		benign	
LOC200726		inserm.fr	GRCh37	2	207509257	207509257	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			BCM723T																					ENST00000543490.1:n.472G>A		*158*	ENST00000543490				0	validated		damaging	
LOC200726		inserm.fr	GRCh37	2	207509353	207509353	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000543490.1:n.568G>A		*190*	ENST00000543490				0	not done		synonymous	
CR2		inserm.fr	GRCh37	1	207644814	207644814	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM531T									Valid												ENST00000367057.3:c.1540C>A	p.Pro514Thr	p.P514T	ENST00000367057	NM_001006658.2	514	Cct/Act	0	validated		probablydamaging	
CCNB1IP1		inserm.fr	GRCh37	14	20781680	20781680	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM567T																					ENST00000398169.3:c.578G>T	p.Gly193Val	p.G193V	ENST00000398169		193	gGc/gTc	0	validated		benign	
ABCB5		inserm.fr	GRCh37	7	20782600	20782600	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1185T																					ENST00000404938.2:c.3125G>A	p.Arg1042Gln	p.R1042Q	ENST00000404938	NM_001163941.1	1042	cGa/cAa	0	not done		benign	
CPO		inserm.fr	GRCh37	2	207833023	207833023	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000272852.3:c.814G>A	p.Ala272Thr	p.A272T	ENST00000272852	NM_173077.2	272	Gca/Aca	0	not done		possiblydamaging	
CD34		inserm.fr	GRCh37	1	208073313	208073313	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000310833.7:c.115G>T	p.Ala39Ser	p.A39S	ENST00000310833	NM_001025109.1	39	Gct/Tct	0	not done		benign	
ZNF626		inserm.fr	GRCh37	19	20808023	20808023	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2200T																					ENST00000601440.1:c.660G>T	p.Lys220Asn	p.K220N	ENST00000601440	NM_001076675.2	220	aaG/aaT	0	not done		probablydamaging	
ERI2		inserm.fr	GRCh37	16	20810134	20810134	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1600T																					ENST00000357967.4:c.988C>T	p.Leu330Phe	p.L330F	ENST00000357967	NM_001142725.1	330	Ctt/Ttt	0	not done		benign	
KLHL22		inserm.fr	GRCh37	22	20819402	20819402	+	synonymous_variant	Silent	SNP	G	A	A			CHC736T																					ENST00000328879.4:c.855C>T	p.Ser285=	p.S285=	ENST00000328879	NM_032775.3	285	agC/agT	0	validated		synonymous	
FOCAD		inserm.fr	GRCh37	9	20821004	20821004	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000380249.1:c.1727G>A	p.Gly576Asp	p.G576D	ENST00000380249	NM_017794.3	576	gGc/gAc	0	not done		benign	
PLXNA2		inserm.fr	GRCh37	1	208215547	208215547	+	synonymous_variant	Silent	SNP	C	A	A			CHC1753T																					ENST00000367033.3:c.4182G>T	p.Leu1394=	p.L1394=	ENST00000367033	NM_025179.3	1394	ctG/ctT	0	not done		synonymous	
HS1BP3		inserm.fr	GRCh37	2	20823674	20823674	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC896T																					ENST00000304031.3:c.902C>T	p.Ala301Val	p.A301V	ENST00000304031	NM_022460.3	301	gCc/gTc	0	not done		probablydamaging	
LOC81691		inserm.fr	GRCh37	16	20837186	20837186	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM375T									Valid												ENST00000261377.6:c.737G>A	p.Arg246His	p.R246H	ENST00000261377	NM_030941.2	246	cGc/cAc	0	validated		probablydamaging	
TEP1		inserm.fr	GRCh37	14	20847264	20847264	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	A	A			CHC902T																					ENST00000262715.5:c.5128G>T	p.Glu1710Ter	p.E1710*	ENST00000262715	NM_007110.4	1710	Gag/Tag	0	not done		damaging	
TEP1		inserm.fr	GRCh37	14	20853145	20853145	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	A	A			CHC1592T																					ENST00000262715.5:c.3106A>T	p.Ser1036Cys	p.S1036C	ENST00000262715	NM_007110.4	1036	Agc/Tgc	0	not done		damaging	
TEP1		inserm.fr	GRCh37	14	20859826	20859826	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000262715.5:c.2029C>T	p.Arg677Cys	p.R677C	ENST00000262715	NM_007110.4	677	Cgc/Tgc	0	validated		probablydamaging	
FZD5		inserm.fr	GRCh37	2	208631751	208631751	+	synonymous_variant	Silent	SNP	G	A	A			CHC302T																					ENST00000295417.3:c.1713C>T	p.Gly571=	p.G571=	ENST00000295417	NM_003468.3	571	ggC/ggT	0	validated		synonymous	
FZD5		inserm.fr	GRCh37	2	208632199	208632199	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1137T																					ENST00000295417.3:c.1265G>T	p.Gly422Val	p.G422V	ENST00000295417	NM_003468.3	422	gGc/gTc	0	not done		probablydamaging	
FZD5		inserm.fr	GRCh37	2	208632822	208632822	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB231T																					ENST00000295417.3:c.642G>T	p.Gln214His	p.Q214H	ENST00000295417	NM_003468.3	214	caG/caT	0	validated		benign	
GDF7		inserm.fr	GRCh37	2	20867321	20867321	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000272224.3:c.322G>A	p.Ala108Thr	p.A108T	ENST00000272224	NM_182828.2	108	Gcc/Acc	0	validated		possiblydamaging	
GDF7		inserm.fr	GRCh37	2	20870531	20870531	+	synonymous_variant	Silent	SNP	G	A	A			CHC609T																					ENST00000272224.3:c.699G>A	p.Leu233=	p.L233=	ENST00000272224	NM_182828.2	233	ttG/ttA	0	validated		synonymous	
PLEKHM3		inserm.fr	GRCh37	2	208795702	208795702	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM269T									Valid												ENST00000427836.2:c.1834C>T	p.Arg612Ter	p.R612*	ENST00000427836	NM_001080475.2	612	Cga/Tga	0	validated		damaging	
MYOM2		inserm.fr	GRCh37	8	2088685	2088685	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000262113.4:c.3840G>A	p.Gly1280=	p.G1280=	ENST00000262113	NM_003970.2	1280	ggG/ggA	0	not done		synonymous	
KLHL33		inserm.fr	GRCh37	14	20898279	20898279	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000344581.4:c.556C>T	p.Pro186Ser	p.P186S	ENST00000344581	NM_001109997.2	186	Cca/Tca	0	not done		benign	
C2orf80		inserm.fr	GRCh37	2	209047690	209047690	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000341287.4:c.205C>T	p.Leu69=	p.L69=	ENST00000341287	NM_001099334.2	69	Ctg/Ttg	0	not done		damaging	
APEX1		inserm.fr	GRCh37	14	20923818	20923818	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000216714.3:c.14G>A	p.Gly5Glu	p.G5E	ENST00000216714	NM_001244249.1	5	gGg/gAg	0	not done		possiblydamaging	
PTH2R		inserm.fr	GRCh37	2	209302317	209302317	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000272847.2:c.234G>A	p.Val78=	p.V78=	ENST00000272847	NM_005048.3	78	gtG/gtA	0	not done		synonymous	
DNAH3		inserm.fr	GRCh37	16	20952844	20952844	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000261383.3:c.11533C>T	p.Gln3845Ter	p.Q3845*	ENST00000261383	NM_017539.1	3845	Caa/Taa	0	not done		damaging	
C2orf43		inserm.fr	GRCh37	2	20974686	20974686	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM671T																					ENST00000237822.3:c.352C>T	p.His118Tyr	p.H118Y	ENST00000237822	NM_021925.2	118	Cac/Tac	0	validated		possiblydamaging	
CAMK1G		inserm.fr	GRCh37	1	209785529	209785529	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000009105.1:c.1308G>A	p.Glu436=	p.E436=	ENST00000009105		436	gaG/gaA	0	not done		synonymous	
DDOST		inserm.fr	GRCh37	1	20987696	20987696	+	synonymous_variant	Silent	SNP	G	A	A			CHC306T																					ENST00000375048.3:c.199C>T	p.Leu67=	p.L67=	ENST00000375048	NM_005216.4	67	Ctg/Ttg	0	validated		synonymous	
DNAH3		inserm.fr	GRCh37	16	21011691	21011691	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000261383.3:c.6276C>T	p.Pro2092=	p.P2092=	ENST00000261383	NM_017539.1	2092	ccC/ccT	0	not done		synonymous	
SERTAD4		inserm.fr	GRCh37	1	210415448	210415448	+	synonymous_variant	Silent	SNP	C	A	A			BCM567T																					ENST00000367012.3:c.837C>A	p.Ala279=	p.A279=	ENST00000367012	NM_019605.3	279	gcC/gcA	0	validated		synonymous	
SH2D5		inserm.fr	GRCh37	1	21048378	21048378	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC258T																					ENST00000444387.2:c.1179G>T	p.Glu393Asp	p.E393D	ENST00000444387	NM_001103161.1	393	gaG/gaT	0	validated		probablydamaging	
SH2D5		inserm.fr	GRCh37	1	21049332	21049332	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000444387.2:c.985C>T	p.Gln329Ter	p.Q329*	ENST00000444387	NM_001103161.1	329	Cag/Tag	0	not done		damaging	
SH2D5		inserm.fr	GRCh37	1	21050652	21050652	+	synonymous_variant	Silent	SNP	G	A	A			CHC1186T																					ENST00000444387.2:c.723C>T	p.Arg241=	p.R241=	ENST00000444387	NM_001103161.1	241	cgC/cgT	0	not done		synonymous	
PI4KA		inserm.fr	GRCh37	22	21065119	21065119	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC801T																					ENST00000255882.6:c.5951C>T	p.Pro1984Leu	p.P1984L	ENST00000255882	NM_058004.3	1984	cCg/cTg	0	validated		probablydamaging	
PRKCZ		inserm.fr	GRCh37	1	2106720	2106720	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000378567.3:c.1543C>A	p.His515Asn	p.H515N	ENST00000378567	NM_002744.4	515	Cac/Aac	0	validated		probablydamaging	
UNC80		inserm.fr	GRCh37	2	210690724	210690724	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000439458.1:c.2425G>A	p.Gly809Arg	p.G809R	ENST00000439458	NM_032504.1	809	Gga/Aga	0	not done		probablydamaging	
PI4KA		inserm.fr	GRCh37	22	21072998	21072998	+	synonymous_variant	Silent	SNP	G	A	A			CHC2208T																					ENST00000255882.6:c.5229C>T	p.Asn1743=	p.N1743=	ENST00000255882	NM_058004.3	1743	aaC/aaT	0	validated		synonymous	
UNC80		inserm.fr	GRCh37	2	210809791	210809791	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000439458.1:c.6869G>A	p.Gly2290Glu	p.G2290E	ENST00000439458	NM_032504.1	2290	gGg/gAg	0	not done		probablydamaging	
UNC80		inserm.fr	GRCh37	2	210824365	210824365	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1211T																					ENST00000439458.1:c.7541T>A	p.Leu2514Ter	p.L2514*	ENST00000439458	NM_032504.1	2514	tTg/tAg	0	not done		damaging	
UNC80		inserm.fr	GRCh37	2	210837822	210837822	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000439458.1:c.8217G>A	p.Leu2739=	p.L2739=	ENST00000439458	NM_032504.1	2739	ctG/ctA	0	not done		synonymous	
PI4KA		inserm.fr	GRCh37	22	21098985	21098985	+	synonymous_variant	Silent	SNP	C	A	A			CHC1040T																					ENST00000255882.6:c.3387G>T	p.Pro1129=	p.P1129=	ENST00000255882	NM_058004.3	1129	ccG/ccT	0	not done		synonymous	
TMEM11		inserm.fr	GRCh37	17	21101687	21101687	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1595T																					ENST00000317635.5:c.529G>T	p.Ala177Ser	p.A177S	ENST00000317635	NM_003876.2	177	Gcc/Tcc	0	validated		benign	
KANSL1L		inserm.fr	GRCh37	2	211018295	211018295	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T																					ENST00000281772.9:c.1012G>T	p.Gly338Cys	p.G338C	ENST00000281772	NM_152519.2	338	Ggt/Tgt	0	validated		probablydamaging	
KCNH1		inserm.fr	GRCh37	1	211093158	211093158	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000271751.4:c.1286C>T	p.Pro429Leu	p.P429L	ENST00000271751		429	cCt/cTt	0	not done		probablydamaging	
NEBL		inserm.fr	GRCh37	10	21115443	21115443	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM275T																					ENST00000377122.4:c.1802C>T	p.Ala601Val	p.A601V	ENST00000377122	NM_006393.2	601	gCt/gTt	0	validated		probablydamaging	
NPC1		inserm.fr	GRCh37	18	21116695	21116695	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2052T																					ENST00000269228.5:c.3187A>T	p.Ser1063Cys	p.S1063C	ENST00000269228	NM_000271.4	1063	Agt/Tgt	0	not done		possiblydamaging	
KCNH1		inserm.fr	GRCh37	1	211256212	211256212	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC320T									Valid												ENST00000271751.4:c.468A>T	p.Arg156Ser	p.R156S	ENST00000271751		156	agA/agT	0	validated		benign	
ZNF85		inserm.fr	GRCh37	19	21132219	21132219	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC892T																					ENST00000328178.8:c.899C>A	p.Thr300Asn	p.T300N	ENST00000328178	NM_003429.4	300	aCc/aAc	0	not done		benign	
PLK1S1		inserm.fr	GRCh37	20	21142620	21142620	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC432T																					ENST00000457464.1:n.178G>A		*60*	ENST00000457464				0	not done		probablydamaging	
CPS1		inserm.fr	GRCh37	2	211502456	211502456	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000430249.2:c.2736G>A	p.Arg912=	p.R912=	ENST00000430249	NM_001122633.2	912	agG/agA	0	not done		synonymous	
CPS1		inserm.fr	GRCh37	2	211507281	211507281	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000430249.2:c.3051G>A	p.Val1017=	p.V1017=	ENST00000430249	NM_001122633.2	1017	gtG/gtA	0	not done		synonymous	
TRAF5		inserm.fr	GRCh37	1	211545738	211545738	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000261464.5:c.1368G>A	p.Gly456=	p.G456=	ENST00000261464	NM_001033910.2	456	ggG/ggA	0	not done		synonymous	
IFT88		inserm.fr	GRCh37	13	21165149	21165149	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000319980.6:c.281G>A	p.Gly94Glu	p.G94E	ENST00000319980	NM_175605.3	94	gGg/gAg	0	not done		probablydamaging	
RNASE4		inserm.fr	GRCh37	14	21167919	21167919	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000555835.1:c.389G>A	p.Arg130His	p.R130H	ENST00000555835	NM_002937.3	130	cGt/cAt	0	not done		benign	
NEBL		inserm.fr	GRCh37	10	21178862	21178862	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC432T																					ENST00000377122.4:c.170A>T	p.Glu57Val	p.E57V	ENST00000377122	NM_006393.2	57	gAg/gTg	0	not done		possiblydamaging	
NEK2		inserm.fr	GRCh37	1	211842603	211842603	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM759T																					ENST00000366999.4:c.837A>T	p.Gln279His	p.Q279H	ENST00000366999	NM_002497.3	279	caA/caT	0	validated		benign	
LPGAT1		inserm.fr	GRCh37	1	211956615	211956615	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM703T																					ENST00000366997.4:c.683A>T	p.Gln228Leu	p.Q228L	ENST00000366997	NM_014873.2	228	cAa/cTa	0	validated		benign	
ANKRD29		inserm.fr	GRCh37	18	21199553	21199553	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC798T									Valid												ENST00000592179.1:c.569A>T	p.His190Leu	p.H190L	ENST00000592179	NM_173505.2	190	cAc/cTc	0	validated		probablydamaging	
SLCO1B7		inserm.fr	GRCh37	12	21205171	21205171	+	synonymous_variant	Silent	SNP	T	A	A			CHC1739T																					ENST00000421593.2:c.1332T>A	p.Ser444=	p.S444=	ENST00000421593	NM_001009562.4	444	tcT/tcA	0	not done		synonymous	
INTS7		inserm.fr	GRCh37	1	212142028	212142028	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM543T																					ENST00000366994.3:c.1837C>T	p.Pro613Ser	p.P613S	ENST00000366994	NM_001199811.1	613	Cct/Tct	0	validated		probablydamaging	
SNAP29		inserm.fr	GRCh37	22	21224794	21224794	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC609T									Valid												ENST00000215730.7:c.407G>A	p.Gly136Asp	p.G136D	ENST00000215730	NM_004782.3	136	gGc/gAc	0	validated		possiblydamaging	
APOB		inserm.fr	GRCh37	2	21229715	21229715	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1594T																					ENST00000233242.1:c.10025C>T	p.Ser3342Phe	p.S3342F	ENST00000233242	NM_000384.2	3342	tCc/tTc	0	not done		probablydamaging	
APOB		inserm.fr	GRCh37	2	21229746	21229746	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM617T																					ENST00000233242.1:c.9994C>T	p.Pro3332Ser	p.P3332S	ENST00000233242	NM_000384.2	3332	Cct/Tct	0	validated		probablydamaging	
APOB		inserm.fr	GRCh37	2	21229965	21229965	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1598T																					ENST00000233242.1:c.9775G>T	p.Glu3259Ter	p.E3259*	ENST00000233242	NM_000384.2	3259	Gaa/Taa	0	not done		damaging	
APOB		inserm.fr	GRCh37	2	21231105	21231105	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC909T																					ENST00000233242.1:c.8635A>T	p.Asn2879Tyr	p.N2879Y	ENST00000233242	NM_000384.2	2879	Aat/Tat	0	not done		possiblydamaging	
SMARCA2		inserm.fr	GRCh37	9	2123736	2123736	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000382203.1:c.3780G>A	p.Arg1260=	p.R1260=	ENST00000382203		1260	cgG/cgA	0	not done		synonymous	
IFNA14		inserm.fr	GRCh37	9	21239904	21239904	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000380222.2:c.31C>T	p.Leu11=	p.L11=	ENST00000380222	NM_002172.2	11	Ctg/Ttg	0	not done		synonymous	
ERBB4		inserm.fr	GRCh37	2	212426705	212426705	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000342788.4:c.2410C>T	p.Leu804=	p.L804=	ENST00000342788	NM_005235.2	804	Ctg/Ttg	0	not done		synonymous	
ERBB4		inserm.fr	GRCh37	2	212566719	212566719	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2216T																					ENST00000342788.4:c.1462C>T	p.Arg488Trp	p.R488W	ENST00000342788	NM_005235.2	488	Cgg/Tgg	0	not done		probablydamaging	
TSC2		inserm.fr	GRCh37	16	2127694	2127694	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC437T																					ENST00000219476.3:c.2933G>A	p.Arg978His	p.R978H	ENST00000219476	NM_000548.3	978	cGc/cAc	0	not done		probablydamaging	
GARIN4		inserm.fr	GRCh37	1	212799746	212799746	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000294829.3:c.1527G>A	p.Gly509=	p.G509=	ENST00000294829	NM_153606.3	509	ggG/ggA	0	not done		synonymous	
TSC2		inserm.fr	GRCh37	16	2129329	2129329	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC798T									Valid												ENST00000219476.3:c.3184G>A	p.Val1062Ile	p.V1062I	ENST00000219476	NM_000548.3	1062	Gtt/Att	0	validated		possiblydamaging	
ZNF714		inserm.fr	GRCh37	19	21300823	21300823	+	synonymous_variant	Silent	SNP	C	A	A			CHC2052T																					ENST00000596143.1:c.1353C>A	p.Pro451=	p.P451=	ENST00000596143	NM_182515.3	451	ccC/ccA	0	not done		synonymous	
VASH2		inserm.fr	GRCh37	1	213125088	213125088	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000366965.2:c.204G>A	p.Met68Ile	p.M68I	ENST00000366965	NM_024749.3	68	atG/atA	0	not done		benign	
TSC2		inserm.fr	GRCh37	16	2131607	2131607	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2111T																					ENST00000219476.3:c.3622T>A	p.Trp1208Arg	p.W1208R	ENST00000219476	NM_000548.3	1208	Tgg/Agg	0	not done		probablydamaging	
AIFM3		inserm.fr	GRCh37	22	21327726	21327726	+	synonymous_variant	Silent	SNP	C	A	A			CHC2127T																					ENST00000399167.2:c.162C>A	p.Arg54=	p.R54=	ENST00000399167	NM_144704.2	54	cgC/cgA	0	validated		synonymous	
AIFM3		inserm.fr	GRCh37	22	21328568	21328568	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2048T																					ENST00000399167.2:c.493G>A	p.Val165Ile	p.V165I	ENST00000399167	NM_144704.2	165	Gtc/Atc	0	validated		benign	
LZTR1		inserm.fr	GRCh37	22	21336820	21336820	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM337T																					ENST00000215739.8:c.160T>A	p.Trp54Arg	p.W54R	ENST00000215739	NM_006767.3	54	Tgg/Agg	0	validated		probablydamaging	
LZTR1		inserm.fr	GRCh37	22	21341794	21341794	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC451T																					ENST00000215739.8:c.322G>A	p.Ala108Thr	p.A108T	ENST00000215739	NM_006767.3	108	Gcc/Acc	0	validated		probablydamaging	
XRN2		inserm.fr	GRCh37	20	21346243	21346243	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000377191.3:c.2357G>A	p.Trp786Ter	p.W786*	ENST00000377191	NM_012255.3	786	tGg/tAg	0	not done		damaging	
LZTR1		inserm.fr	GRCh37	22	21347107	21347107	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000215739.8:c.1174G>A	p.Ala392Thr	p.A392T	ENST00000215739	NM_006767.3	392	Gcg/Acg	0	not done		probablydamaging	
LZTR1		inserm.fr	GRCh37	22	21347142	21347142	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC923T																					ENST00000215739.8:c.1209C>A	p.Phe403Leu	p.F403L	ENST00000215739	NM_006767.3	403	ttC/ttA	0	not done		possiblydamaging	
RNASE3		inserm.fr	GRCh37	14	21360221	21360221	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000304639.3:c.376G>A	p.Ala126Thr	p.A126T	ENST00000304639	NM_002935.2	126	Gca/Aca	0	not done		benign	
ZNF431		inserm.fr	GRCh37	19	21366247	21366247	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1626T																					ENST00000311048.7:c.1141T>A	p.Phe381Ile	p.F381I	ENST00000311048	NM_133473.2	381	Ttt/Att	0	not done		probablydamaging	
P2RX6		inserm.fr	GRCh37	22	21369579	21369579	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000413302.2:c.116G>A	p.Gly39Asp	p.G39D	ENST00000413302		39	gGc/gAc	0	not done		probablydamaging	
NKX2-4		inserm.fr	GRCh37	20	21376990	21376990	+	synonymous_variant	Silent	SNP	G	A	A			CHC1741T																					ENST00000351817.4:c.624C>T	p.Phe208=	p.F208=	ENST00000351817	NM_033176.1	208	ttC/ttT	0	validated		synonymous	
P2RX6		inserm.fr	GRCh37	22	21377661	21377661	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC361TA									Valid												ENST00000413302.2:c.736C>A	p.Leu246Ile	p.L246I	ENST00000413302		246	Ctc/Atc	0	validated		benign	
NKX2-4		inserm.fr	GRCh37	20	21377877	21377877	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC898T																					ENST00000351817.4:c.161G>T	p.Gly54Val	p.G54V	ENST00000351817	NM_033176.1	54	gGg/gTg	0	not done		probablydamaging	
SLC7A4		inserm.fr	GRCh37	22	21385311	21385311	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000382932.2:c.791C>T	p.Pro264Leu	p.P264L	ENST00000382932	NM_004173.2	264	cCa/cTa	0	not done		probablydamaging	
LAMA3		inserm.fr	GRCh37	18	21407383	21407383	+	synonymous_variant	Silent	SNP	G	A	A			CHC1211T																					ENST00000313654.9:c.2775G>A	p.Arg925=	p.R925=	ENST00000313654	NM_198129.1	925	agG/agA	0	not done		synonymous	
PKD1		inserm.fr	GRCh37	16	2141580	2141580	+	synonymous_variant	Silent	SNP	C	A	A			CHC2134T																					ENST00000262304.4:c.11556G>T	p.Leu3852=	p.L3852=	ENST00000262304	NM_001009944.2	3852	ctG/ctT	0	validated		synonymous	
PROX1		inserm.fr	GRCh37	1	214171091	214171091	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM325T																					ENST00000366958.4:c.1213G>A	p.Ala405Thr	p.A405T	ENST00000366958	NM_001270616.1	405	Gcc/Acc	0	validated		benign	
LAMA3		inserm.fr	GRCh37	18	21427476	21427476	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000313654.9:c.3980G>A	p.Arg1327His	p.R1327H	ENST00000313654	NM_198129.1	1327	cGc/cAc	0	not done		benign	
XPO4		inserm.fr	GRCh37	13	21442744	21442744	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB109T																					ENST00000255305.6:c.166C>T	p.His56Tyr	p.H56Y	ENST00000255305		56	Cat/Tat	0	validated		benign	
LAMA3		inserm.fr	GRCh37	18	21453065	21453065	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000313654.9:c.4998+1440G>A		*1666*	ENST00000313654	NM_198129.1			0	not done		synonymous	
PTPN14		inserm.fr	GRCh37	1	214557137	214557137	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000366956.5:c.2061C>T	p.Pro687=	p.P687=	ENST00000366956	NM_005401.4	687	ccC/ccT	0	not done		synonymous	
LAMA3		inserm.fr	GRCh37	18	21479412	21479412	+	synonymous_variant	Silent	SNP	G	A	A			CHC891T																					ENST00000313654.9:c.5997G>A	p.Ser1999=	p.S1999=	ENST00000313654	NM_198129.1	1999	tcG/tcA	0	not done		synonymous	
NDRG2		inserm.fr	GRCh37	14	21490649	21490649	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC609T									Valid												ENST00000556147.1:c.125C>T	p.Ser42Phe	p.S42F	ENST00000556147		42	tCt/tTt	0	validated		probablydamaging	
NKX2-2		inserm.fr	GRCh37	20	21492733	21492733	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000377142.4:c.650C>T	p.Ala217Val	p.A217V	ENST00000377142	NM_002509.3	217	gCg/gTg	0	validated		benign	
SPAG16		inserm.fr	GRCh37	2	215274934	215274934	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000331683.5:c.1791C>A	p.His597Gln	p.H597Q	ENST00000331683	NM_024532.4	597	caC/caA	0	not done		possiblydamaging	
KCNK2		inserm.fr	GRCh37	1	215368299	215368299	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC703T																					ENST00000444842.2:c.827G>A	p.Gly276Glu	p.G276E	ENST00000444842	NM_014217.3	276	gGa/gAa	0	validated		probablydamaging	
ARHGEF40		inserm.fr	GRCh37	14	21543873	21543873	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM375T									Valid												ENST00000298694.4:c.1688C>A	p.Pro563His	p.P563H	ENST00000298694	NM_001278529.1	563	cCc/cAc	0	validated		probablydamaging	
LATS2		inserm.fr	GRCh37	13	21549364	21549364	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1148T																					ENST00000382592.4:c.2912C>T	p.Pro971Leu	p.P971L	ENST00000382592	NM_014572.2	971	cCc/cTc	0	not done		probablydamaging	
BARD1		inserm.fr	GRCh37	2	215595141	215595141	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1052T									Valid												ENST00000260947.4:c.1995A>T	p.Glu665Asp	p.E665D	ENST00000260947	NM_000465.2	665	gaA/gaT	0	validated		possiblydamaging	
LATS2		inserm.fr	GRCh37	13	21562383	21562383	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1040T																					ENST00000382592.4:c.1536G>T	p.Arg512Ser	p.R512S	ENST00000382592	NM_014572.2	512	agG/agT	0	not done		probablydamaging	
GFRA2		inserm.fr	GRCh37	8	21562580	21562580	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000524240.1:c.962C>T	p.Pro321Leu	p.P321L	ENST00000524240	NM_001495.4	321	cCc/cTc	0	not done		probablydamaging	
LATS2		inserm.fr	GRCh37	13	21562820	21562820	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC884T																					ENST00000382592.4:c.1099G>T	p.Val367Phe	p.V367F	ENST00000382592	NM_014572.2	367	Gtc/Ttc	0	validated		benign	
LATS2		inserm.fr	GRCh37	13	21563429	21563429	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000382592.4:c.490C>T	p.Pro164Ser	p.P164S	ENST00000382592	NM_014572.2	164	Cca/Tca	0	validated		probablydamaging	
NELL1		inserm.fr	GRCh37	11	21581775	21581775	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2128T																					ENST00000357134.5:c.1827C>A	p.Asn609Lys	p.N609K	ENST00000357134	NM_201551.1	609	aaC/aaA	0	not done		possiblydamaging	
ABCA12		inserm.fr	GRCh37	2	215855663	215855663	+	synonymous_variant	Silent	SNP	G	A	A			CHC1602T																					ENST00000272895.7:c.3387C>T	p.Leu1129=	p.L1129=	ENST00000272895	NM_173076.2	1129	ctC/ctT	0	not done		synonymous	
PKD1		inserm.fr	GRCh37	16	2159059	2159059	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1736T																					ENST00000262304.4:c.6109G>T	p.Glu2037Ter	p.E2037*	ENST00000262304	NM_001009944.2	2037	Gag/Tag	0	not done		damaging	
USH2A		inserm.fr	GRCh37	1	215956199	215956199	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1717T																					ENST00000307340.3:c.10466C>T	p.Ala3489Val	p.A3489V	ENST00000307340	NM_206933.2	3489	gCt/gTt	0	not done		benign	
PKD1		inserm.fr	GRCh37	16	2159673	2159673	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1186T																					ENST00000262304.4:c.5495G>T	p.Gly1832Val	p.G1832V	ENST00000262304	NM_001009944.2	1832	gGc/gTc	0	not done		probablydamaging	
DNAH11		inserm.fr	GRCh37	7	21598542	21598542	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1534T																					ENST00000328843.6:c.618G>A	p.Met206Ile	p.M206I	ENST00000328843		206	atG/atA	0	validated		benign	
GFRA2		inserm.fr	GRCh37	8	21608198	21608198	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000524240.1:c.696C>T	p.Arg232=	p.R232=	ENST00000524240	NM_001495.4	232	cgC/cgT	0	not done		synonymous	
USH2A		inserm.fr	GRCh37	1	216270427	216270427	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	A	A			BCM275T									Valid												ENST00000307340.3:c.4756C>T	p.Gln1586Ter	p.Q1586*	ENST00000307340	NM_206933.2	1586	Cag/Tag	0	validated		damaging	
USH2A		inserm.fr	GRCh37	1	216595640	216595640	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC614T									Valid												ENST00000307340.3:c.39G>T	p.Leu13Phe	p.L13F	ENST00000307340	NM_206933.2	13	ttG/ttT	0	validated		probablydamaging	
TTC39C		inserm.fr	GRCh37	18	21660870	21660870	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000317571.3:c.782G>A	p.Ser261Asn	p.S261N	ENST00000317571	NM_001135993.1	261	aGc/aAc	0	not done		probablydamaging	
HBM		inserm.fr	GRCh37	16	216623	216623	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000356815.3:c.342G>A	p.Gln114=	p.Q114=	ENST00000356815	NM_001003938.3	114	caG/caA	0	not done		synonymous	
PKD1		inserm.fr	GRCh37	16	2166605	2166605	+	synonymous_variant	Silent	SNP	G	A	A			CHC961T																					ENST00000262304.4:c.1647C>T	p.Pro549=	p.P549=	ENST00000262304	NM_001009944.2	549	ccC/ccT	0	validated		synonymous	
CNKSR2		inserm.fr	GRCh37	X	21667146	21667146	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000379510.3:c.2889+1G>A		p.X963_splice	ENST00000379510	NM_014927.3			0	not done		damaging	
KLHL34		inserm.fr	GRCh37	X	21675313	21675313	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000379499.2:c.594C>T	p.Gly198=	p.G198=	ENST00000379499	NM_153270.1	198	ggC/ggT	0	not done		synonymous	
KLHL34		inserm.fr	GRCh37	X	21675674	21675674	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000379499.2:c.233C>T	p.Ala78Val	p.A78V	ENST00000379499	NM_153270.1	78	gCc/gTc	0	not done		benign	
MREG		inserm.fr	GRCh37	2	216811815	216811815	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC902T																					ENST00000263268.6:c.277G>T	p.Asp93Tyr	p.D93Y	ENST00000263268	NM_018000.2	93	Gat/Tat	0	not done		probablydamaging	
TMEM169		inserm.fr	GRCh37	2	216964814	216964814	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1209T																					ENST00000454545.1:c.443T>A	p.Met148Lys	p.M148K	ENST00000454545	NM_001142310.1	148	aTg/aAg	0	not done		benign	
XRCC5		inserm.fr	GRCh37	2	216986879	216986879	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1750T																					ENST00000392133.3:c.586G>A	p.Gly196Arg	p.G196R	ENST00000392133		196	Gga/Aga	0	not done		benign	
MARCH4		inserm.fr	GRCh37	2	217124328	217124328	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000273067.4:c.940G>T	p.Val314Leu	p.V314L	ENST00000273067	NM_020814.2	314	Gtg/Ttg	0	not done		probablydamaging	
OTOA		inserm.fr	GRCh37	16	21726317	21726317	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC197T									Valid												ENST00000388958.3:c.1332C>A	p.Phe444Leu	p.F444L	ENST00000388958	NM_144672.3	444	ttC/ttA	0	validated		probablydamaging	
OTOA		inserm.fr	GRCh37	16	21747662	21747662	+	synonymous_variant	Silent	SNP	G	A	A			CHC1568T																					ENST00000388958.3:c.2382G>A	p.Gln794=	p.Q794=	ENST00000388958	NM_144672.3	794	caG/caA	0	not done		synonymous	
GPATCH2		inserm.fr	GRCh37	1	217622626	217622626	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM695T																					ENST00000366935.3:c.1331G>T	p.Arg444Ile	p.R444I	ENST00000366935	NM_018040.2	444	aGa/aTa	0	validated		probablydamaging	
DOK2		inserm.fr	GRCh37	8	21766953	21766953	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB157T																					ENST00000276420.4:c.1108A>T	p.Arg370Trp	p.R370W	ENST00000276420	NM_003974.2	370	Agg/Tgg	0	validated		probablydamaging	
DOK2		inserm.fr	GRCh37	8	21766954	21766954	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB157T																					ENST00000276420.4:c.1107G>T	p.Arg369Ser	p.R369S	ENST00000276420	NM_003974.2	369	agG/agT	0	validated		possiblydamaging	
RPGRIP1		inserm.fr	GRCh37	14	21769284	21769284	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000400017.2:c.378G>A	p.Gly126=	p.G126=	ENST00000400017	NM_020366.3	126	ggG/ggA	0	not done		synonymous	
DOK2		inserm.fr	GRCh37	8	21769805	21769805	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000276420.4:c.280C>T	p.Leu94Phe	p.L94F	ENST00000276420	NM_003974.2	94	Ctc/Ttc	0	not done		possiblydamaging	
GPATCH2		inserm.fr	GRCh37	1	217793531	217793531	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC789T																					ENST00000366935.3:c.367G>T	p.Val123Leu	p.V123L	ENST00000366935	NM_018040.2	123	Gta/Tta	0	not done		benign	
SPATA17		inserm.fr	GRCh37	1	217856615	217856615	+	synonymous_variant	Silent	SNP	C	A	A			CHC1211T																					ENST00000366933.4:c.307C>A	p.Arg103=	p.R103=	ENST00000366933	NM_138796.2	103	Cga/Aga	0	not done		synonymous	
RPGRIP1		inserm.fr	GRCh37	14	21792975	21792975	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1717T																					ENST00000400017.2:c.1961G>A	p.Cys654Tyr	p.C654Y	ENST00000400017	NM_020366.3	654	tGc/tAc	0	not done		probablydamaging	
NBPF3		inserm.fr	GRCh37	1	21795251	21795251	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000318249.5:c.204G>A	p.Lys68=	p.K68=	ENST00000318249	NM_032264.4	68	aaG/aaA	0	not done		synonymous	
SPATA17		inserm.fr	GRCh37	1	217955651	217955651	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1749T																					ENST00000366933.4:c.859G>A	p.Val287Ile	p.V287I	ENST00000366933	NM_138796.2	287	Gta/Ata	0	not done		benign	
HIC2		inserm.fr	GRCh37	22	21800522	21800522	+	synonymous_variant	Silent	SNP	C	A	A			BCM723T																					ENST00000443632.2:c.1338C>A	p.Pro446=	p.P446=	ENST00000443632		446	ccC/ccA	0	validated		synonymous	
CDH12		inserm.fr	GRCh37	5	21802404	21802404	+	synonymous_variant	Silent	SNP	C	A	A			CHC218T																					ENST00000382254.1:c.1128G>T	p.Leu376=	p.L376=	ENST00000382254	NM_004061.3	376	ctG/ctT	0	not done		synonymous	
CDH12		inserm.fr	GRCh37	5	21802506	21802506	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC304T									Valid												ENST00000382254.1:c.1026G>T	p.Lys342Asn	p.K342N	ENST00000382254	NM_004061.3	342	aaG/aaT	0	validated		probablydamaging	
XPO7		inserm.fr	GRCh37	8	21827066	21827066	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1725T																					ENST00000252512.9:c.238T>A	p.Leu80Met	p.L80M	ENST00000252512	NM_015024.4	80	Ttg/Atg	0	not done		benign	
MTAP		inserm.fr	GRCh37	9	21854664	21854664	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB151T																					ENST00000380172.4:c.485G>A	p.Arg162Gln	p.R162Q	ENST00000380172	NM_002451.3	162	cGg/cAg	0	validated		benign	
MTAP		inserm.fr	GRCh37	9	21854871	21854871	+	splice_donor_variant	Splice_Site	SNP	T	A	A			BCM371T																					ENST00000380172.4:c.690+2T>A		p.X230_splice	ENST00000380172	NM_002451.3			0	validated		damaging	
TGFB2		inserm.fr	GRCh37	1	218578665	218578665	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000366929.4:c.585G>A	p.Glu195=	p.E195=	ENST00000366929	NM_001135599.2	195	gaG/gaA	0	not done		synonymous	
TNS1		inserm.fr	GRCh37	2	218712550	218712550	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000171887.4:c.2315C>T	p.Ser772Leu	p.S772L	ENST00000171887	NM_022648.4	772	tCg/tTg	0	validated		benign	
KDM5D		inserm.fr	GRCh37	Y	21872343	21872343	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1751T																					ENST00000317961.4:c.2502G>T	p.Gln834His	p.Q834H	ENST00000317961	NM_004653.4	834	caG/caT	0	validated		benign	
TH		inserm.fr	GRCh37	11	2187250	2187250	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1745T																					ENST00000381178.1:c.1179A>T	p.Glu393Asp	p.E393D	ENST00000381178	NM_199292.2	393	gaA/gaT	0	not done		benign	
YY2		inserm.fr	GRCh37	X	21875095	21875095	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000429584.2:c.493G>A	p.Gly165Ser	p.G165S	ENST00000429584	NM_206923.3	165	Ggc/Agc	0	not done		benign	
RUFY4		inserm.fr	GRCh37	2	218941164	218941164	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000374155.3:c.1323G>A	p.Gly441=	p.G441=	ENST00000374155		441	ggG/ggA	0	not done		synonymous	
CXCR2		inserm.fr	GRCh37	2	218999757	218999757	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM275T																					ENST00000318507.2:c.233T>A	p.Val78Asp	p.V78D	ENST00000318507	NM_001557.3	78	gTc/gAc	0	validated		benign	
CXCR2		inserm.fr	GRCh37	2	219000180	219000180	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC902T																					ENST00000318507.2:c.656G>A	p.Gly219Asp	p.G219D	ENST00000318507	NM_001557.3	219	gGc/gAc	0	not done		probablydamaging	
CXCR1		inserm.fr	GRCh37	2	219029647	219029647	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000295683.2:c.288C>T	p.Ala96=	p.A96=	ENST00000295683	NM_000634.2	96	gcC/gcT	0	not done		synonymous	
OSBPL1A		inserm.fr	GRCh37	18	21921610	21921610	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000319481.3:c.295C>T	p.Leu99Phe	p.L99F	ENST00000319481	NM_080597.3	99	Ctt/Ttt	0	not done		probablydamaging	
SLC11A1		inserm.fr	GRCh37	2	219251425	219251425	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC121T																					ENST00000233202.6:c.461T>A	p.Ile154Asn	p.I154N	ENST00000233202	NM_000578.3	154	aTc/aAc	0	validated		probablydamaging	
DMTN		inserm.fr	GRCh37	8	21926938	21926938	+	synonymous_variant	Silent	SNP	G	A	A			CHC1592T																					ENST00000523266.1:c.303G>A	p.Ala101=	p.A101=	ENST00000523266	NM_001978.2	101	gcG/gcA	0	not done		synonymous	
PLCD4		inserm.fr	GRCh37	2	219483437	219483437	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM375T									Valid												ENST00000450993.2:c.317C>A	p.Ala106Asp	p.A106D	ENST00000450993	NM_032726.3	106	gCc/gAc	0	validated		probablydamaging	
ZNF142		inserm.fr	GRCh37	2	219507197	219507197	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000411696.2:c.4042C>T	p.Arg1348Cys	p.R1348C	ENST00000411696		1348	Cgt/Tgt	0	validated		probablydamaging	
ZNF142		inserm.fr	GRCh37	2	219509534	219509534	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB167T																					ENST00000411696.2:c.1705C>T	p.Arg569Cys	p.R569C	ENST00000411696		569	Cgc/Tgc	0	validated		probablydamaging	
RAP1GAP		inserm.fr	GRCh37	1	21952822	21952822	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC961T																					ENST00000290101.4:c.149C>T	p.Ser50Phe	p.S50F	ENST00000290101	NM_001145658.1	50	tCc/tTc	0	validated		benign	
STK36		inserm.fr	GRCh37	2	219545338	219545338	+	synonymous_variant	Silent	SNP	C	A	A			CHC302T																					ENST00000295709.3:c.1149C>A	p.Thr383=	p.T383=	ENST00000295709	NM_015690.4	383	acC/acA	0	validated		synonymous	
TOX4		inserm.fr	GRCh37	14	21955810	21955810	+	synonymous_variant	Silent	SNP	G	A	A			CHC889T																					ENST00000405508.1:c.276G>A	p.Leu92=	p.L92=	ENST00000405508		92	ttG/ttA	0	not done		synonymous	
CYP27A1		inserm.fr	GRCh37	2	219678860	219678860	+	synonymous_variant	Silent	SNP	G	A	A			CHC1010T																					ENST00000258415.4:c.1134G>A	p.Lys378=	p.K378=	ENST00000258415	NM_000784.3	378	aaG/aaA	0	not done		synonymous	
CDKN2A		inserm.fr	GRCh37	9	21971096	21971096	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC469T									Valid												ENST00000304494.5:c.262G>T	p.Glu88Ter	p.E88*	ENST00000304494	NM_000077.4	88	Gag/Tag	0	validated		damaging	
CDKN2A		inserm.fr	GRCh37	9	21971111	21971111	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1566T									Valid												ENST00000304494.5:c.247C>T	p.His83Tyr	p.H83Y	ENST00000304494	NM_000077.4	83	Cac/Tac	0	validated		possiblydamaging	
WNT6		inserm.fr	GRCh37	2	219738496	219738496	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC451T																					ENST00000233948.3:c.1027C>A	p.Arg343Ser	p.R343S	ENST00000233948	NM_006522.3	343	Cgc/Agc	0	validated		probablydamaging	
WNT10A		inserm.fr	GRCh37	2	219754964	219754964	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000258411.3:c.635G>A	p.Gly212Asp	p.G212D	ENST00000258411	NM_025216.2	212	gGc/gAc	0	not done		probablydamaging	
YDJC		inserm.fr	GRCh37	22	21984211	21984211	+	synonymous_variant	Silent	SNP	G	A	A			CHC1700T																					ENST00000292778.6:c.93C>T	p.Ala31=	p.A31=	ENST00000292778	NM_001017964.1	31	gcC/gcT	0	validated		synonymous	
FEV		inserm.fr	GRCh37	2	219849772	219849772	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000295727.1:c.26C>T	p.Pro9Leu	p.P9L	ENST00000295727	NM_017521.2	9	cCc/cTc	0	not done		benign	
HR		inserm.fr	GRCh37	8	21986593	21986593	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000381418.4:c.91C>T	p.Pro31Ser	p.P31S	ENST00000381418	NM_005144.4	31	Ccg/Tcg	0	not done		benign	
CCDC108		inserm.fr	GRCh37	2	219888039	219888039	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1035T									Valid												ENST00000341552.5:c.2710C>T	p.Arg904Cys	p.R904C	ENST00000341552	NM_194302.3	904	Cgc/Tgc	0	validated		probablydamaging	
SALL2		inserm.fr	GRCh37	14	21991974	21991974	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000327430.3:c.1888C>T	p.Pro630Ser	p.P630S	ENST00000327430	NM_005407.1	630	Cct/Tct	0	not done		probablydamaging	
IHH		inserm.fr	GRCh37	2	219922390	219922390	+	synonymous_variant	Silent	SNP	C	A	A			CHC1725T																					ENST00000295731.6:c.342G>T	p.Leu114=	p.L114=	ENST00000295731	NM_002181.3	114	ctG/ctT	0	not done		synonymous	
SMS		inserm.fr	GRCh37	X	21996098	21996098	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000404933.2:c.526G>A	p.Ala176Thr	p.A176T	ENST00000404933	NM_004595.4	176	Gca/Aca	0	not done		probablydamaging	
SLC30A10		inserm.fr	GRCh37	1	220088982	220088982	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2099T																					ENST00000366926.3:c.1267G>T	p.Ala423Ser	p.A423S	ENST00000366926	NM_018713.2	423	Gct/Tct	0	not done		possiblydamaging	
SLC30A10		inserm.fr	GRCh37	1	220101572	220101572	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1207T																					ENST00000366926.3:c.211A>T	p.Thr71Ser	p.T71S	ENST00000366926	NM_018713.2	71	Acc/Tcc	0	not done		probablydamaging	
DNAJB2		inserm.fr	GRCh37	2	220147609	220147609	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000336576.5:c.403G>A	p.Gly135Ser	p.G135S	ENST00000336576	NM_006736.5	135	Ggc/Agc	0	not done		benign	
PTPRN		inserm.fr	GRCh37	2	220161714	220161714	+	synonymous_variant	Silent	SNP	G	A	A			CHC051T																					ENST00000295718.2:c.2229C>T	p.Phe743=	p.F743=	ENST00000295718	NM_002846.3	743	ttC/ttT	0	validated		synonymous	
PTPRN		inserm.fr	GRCh37	2	220164079	220164079	+	synonymous_variant	Silent	SNP	G	A	A			CHC889T																					ENST00000295718.2:c.1551C>T	p.Arg517=	p.R517=	ENST00000295718	NM_002846.3	517	cgC/cgT	0	not done		synonymous	
PTPRN		inserm.fr	GRCh37	2	220166438	220166438	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1186T																					ENST00000295718.2:c.998C>T	p.Ala333Val	p.A333V	ENST00000295718	NM_002846.3	333	gCg/gTg	0	not done		benign	
PTPRN		inserm.fr	GRCh37	2	220167424	220167424	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000295718.2:c.513C>T	p.Ser171=	p.S171=	ENST00000295718	NM_002846.3	171	tcC/tcT	0	not done		synonymous	
PTPRN		inserm.fr	GRCh37	2	220167534	220167534	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1083T																					ENST00000295718.2:c.403G>T	p.Gly135Cys	p.G135C	ENST00000295718	NM_002846.3	135	Ggt/Tgt	0	validated		possiblydamaging	
PTPRN		inserm.fr	GRCh37	2	220174024	220174024	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2213T																					ENST00000295718.2:c.31G>T	p.Gly11Trp	p.G11W	ENST00000295718	NM_002846.3	11	Ggg/Tgg	0	validated		possiblydamaging	
RESP18		inserm.fr	GRCh37	2	220194414	220194414	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000333527.5:c.410C>T	p.Pro137Leu	p.P137L	ENST00000333527	NM_001007089.3	137	cCc/cTc	0	not done		probablydamaging	
IARS2		inserm.fr	GRCh37	1	220269524	220269524	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1081T																					ENST00000302637.5:c.346C>A	p.Pro116Thr	p.P116T	ENST00000302637	NM_018060.3	116	Cct/Act	0	validated		probablydamaging	
DES		inserm.fr	GRCh37	2	220283751	220283751	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000373960.3:c.567G>A	p.Arg189=	p.R189=	ENST00000373960	NM_001927.3	189	cgG/cgA	0	not done		synonymous	
SPEG		inserm.fr	GRCh37	2	220309786	220309786	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000312358.7:c.718G>A	p.Gly240Ser	p.G240S	ENST00000312358	NM_005876.4	240	Ggc/Agc	0	not done		probablydamaging	
SPEG		inserm.fr	GRCh37	2	220331922	220331922	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM791T									Valid												ENST00000312358.7:c.2908G>A	p.Val970Met	p.V970M	ENST00000312358	NM_005876.4	970	Gtg/Atg	0	validated		probablydamaging	
SPEG		inserm.fr	GRCh37	2	220334000	220334000	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1731T																					ENST00000312358.7:c.3614C>A	p.Ala1205Asp	p.A1205D	ENST00000312358	NM_005876.4	1205	gCc/gAc	0	not done		probablydamaging	
SPEG		inserm.fr	GRCh37	2	220357316	220357316	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	A	A			CHC303T									Valid												ENST00000312358.7:c.9612G>A	p.Trp3204Ter	p.W3204*	ENST00000312358	NM_005876.4	3204	tgG/tgA	0	validated		damaging	
GMPPA		inserm.fr	GRCh37	2	220364715	220364715	+	synonymous_variant	Silent	SNP	C	A	A			CHC892T																					ENST00000358215.3:c.18C>A	p.Ile6=	p.I6=	ENST00000358215	NM_205847.2	6	atC/atA	0	not done		synonymous	
OR10G3		inserm.fr	GRCh37	14	22037946	22037946	+	synonymous_variant	Silent	SNP	C	A	A			CHC1775T																					ENST00000303532.1:c.930G>T	p.Pro310=	p.P310=	ENST00000303532	NM_001005465.1	310	ccG/ccT	0	validated		synonymous	
ASIC4		inserm.fr	GRCh37	2	220397049	220397049	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1700T																					ENST00000347842.3:c.1249C>A	p.Pro417Thr	p.P417T	ENST00000347842	NM_182847.2	417	Ccc/Acc	0	not done		possiblydamaging	
ASIC4		inserm.fr	GRCh37	2	220399996	220399996	+	synonymous_variant	Silent	SNP	C	A	A			CHC1205T																					ENST00000347842.3:c.1503C>A	p.Gly501=	p.G501=	ENST00000347842	NM_182847.2	501	ggC/ggA	0	validated		synonymous	
OBSL1		inserm.fr	GRCh37	2	220422209	220422209	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1749T																					ENST00000404537.1:c.3922C>T	p.Arg1308Ter	p.R1308*	ENST00000404537	NM_015311.2	1308	Cga/Tga	0	not done		damaging	
OBSL1		inserm.fr	GRCh37	2	220422963	220422963	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM723T									Valid												ENST00000404537.1:c.3445G>T	p.Gly1149Trp	p.G1149W	ENST00000404537	NM_015311.2	1149	Ggg/Tgg	0	validated		probablydamaging	
OBSL1		inserm.fr	GRCh37	2	220427130	220427130	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000404537.1:c.2947G>T	p.Val983Phe	p.V983F	ENST00000404537	NM_015311.2	983	Gtc/Ttc	0	not done		probablydamaging	
INHA		inserm.fr	GRCh37	2	220439696	220439696	+	synonymous_variant	Silent	SNP	C	A	A			BCM567T																					ENST00000243786.2:c.549C>A	p.Thr183=	p.T183=	ENST00000243786	NM_002191.3	183	acC/acA	0	validated		synonymous	
STK11IP		inserm.fr	GRCh37	2	220470991	220470991	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000295641.10:c.957G>A	p.Arg319=	p.R319=	ENST00000295641	NM_052902.2	319	cgG/cgA	0	not done		synonymous	
STK11IP		inserm.fr	GRCh37	2	220479853	220479853	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000295641.10:c.2940G>A	p.Pro980=	p.P980=	ENST00000295641	NM_052902.2	980	ccG/ccA	0	validated		synonymous	
SLC4A3		inserm.fr	GRCh37	2	220500452	220500452	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1566T																					ENST00000373762.3:c.2111G>A	p.Arg704Gln	p.R704Q	ENST00000373762	NM_005070.3	704	cGg/cAg	0	not done		probablydamaging	
SLC4A3		inserm.fr	GRCh37	2	220500529	220500529	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373762.3:c.2188G>A	p.Ala730Thr	p.A730T	ENST00000373762	NM_005070.3	730	Gcg/Acg	0	not done		probablydamaging	
SLC4A3		inserm.fr	GRCh37	2	220501486	220501486	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373762.3:c.2506G>A	p.Ala836Thr	p.A836T	ENST00000373762	NM_005070.3	836	Gcc/Acc	0	not done		probablydamaging	
HRH4		inserm.fr	GRCh37	18	22057089	22057089	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000256906.4:c.736G>A	p.Ala246Thr	p.A246T	ENST00000256906	NM_021624.3	246	Gca/Aca	0	not done		benign	
USP48		inserm.fr	GRCh37	1	22074753	22074753	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM265T									Valid												ENST00000308271.9:c.786A>T	p.Leu262Phe	p.L262F	ENST00000308271	NM_032236.5	262	ttA/ttT	0	validated		probablydamaging	
DOT1L		inserm.fr	GRCh37	19	2207623	2207623	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000398665.3:c.907G>A	p.Val303Met	p.V303M	ENST00000398665	NM_032482.2	303	Gtg/Atg	0	not done		probablydamaging	
MARK1		inserm.fr	GRCh37	1	220791803	220791803	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000366917.4:c.704G>A	p.Gly235Glu	p.G235E	ENST00000366917	NM_001286124.1	235	gGg/gAg	0	not done		probablydamaging	
PHYHIP		inserm.fr	GRCh37	8	22084467	22084467	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000454243.2:c.237C>T	p.Ser79=	p.S79=	ENST00000454243	NM_014759.3	79	agC/agT	0	not done		synonymous	
OR10G2		inserm.fr	GRCh37	14	22102533	22102533	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000542433.1:c.466G>T	p.Ala156Ser	p.A156S	ENST00000542433	NM_001005466.1	156	Gcc/Tcc	0	not done		probablydamaging	
HLX		inserm.fr	GRCh37	1	221057537	221057537	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000366903.6:c.958G>A	p.Val320Met	p.V320M	ENST00000366903	NM_021958.3	320	Gtg/Atg	0	not done		probablydamaging	
VWA3A		inserm.fr	GRCh37	16	22108935	22108935	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000389398.5:c.144G>A	p.Lys48=	p.K48=	ENST00000389398	NM_173615.3	48	aaG/aaA	0	not done		synonymous	
HSPG2		inserm.fr	GRCh37	1	22150629	22150629	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T									Valid												ENST00000374695.3:c.12884G>T	p.Arg4295Leu	p.R4295L	ENST00000374695	NM_005529.5	4295	cGg/cTg	0	validated		possiblydamaging	
HSPG2		inserm.fr	GRCh37	1	22163393	22163393			NA		C	A				CHC326T																													validated			
ZNF208		inserm.fr	GRCh37	19	22171711	22171711	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	A	A			CHC432T																					ENST00000397126.4:c.4G>T	p.Gly2Ter	p.G2*	ENST00000397126	NM_007153.3	2	Gga/Tga	0	not done		damaging	
ZNF208		inserm.fr	GRCh37	19	22171712	22171712	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC432T																					ENST00000397126.4:c.4-1G>T		p.X2_splice	ENST00000397126	NM_007153.3			0	not done		damaging	
HSPG2		inserm.fr	GRCh37	1	22179298	22179298	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1061T									Valid												ENST00000374695.3:c.6619C>T	p.Gln2207Ter	p.Q2207*	ENST00000374695	NM_005529.5	2207	Cag/Tag	0	validated		damaging	
TRAF7		inserm.fr	GRCh37	16	2218104	2218104	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC451T																					ENST00000326181.6:c.166C>A	p.His56Asn	p.H56N	ENST00000326181	NM_032271.2	56	Cac/Aac	0	validated		possiblydamaging	
HSPG2		inserm.fr	GRCh37	1	22199565	22199565	+	synonymous_variant	Silent	SNP	C	A	A			CHC1754T																					ENST00000374695.3:c.3813G>T	p.Gly1271=	p.G1271=	ENST00000374695	NM_005529.5	1271	ggG/ggT	0	not done		synonymous	
HSPG2		inserm.fr	GRCh37	1	22205605	22205605	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000374695.3:c.2353C>T	p.His785Tyr	p.H785Y	ENST00000374695	NM_005529.5	785	Cac/Tac	0	not done		probablydamaging	
TRAF7		inserm.fr	GRCh37	16	2223271	2223271	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1028T																					ENST00000326181.6:c.883G>A	p.Asp295Asn	p.D295N	ENST00000326181	NM_032271.2	295	Gat/Aat	0	not done		probablydamaging	
EPHA4		inserm.fr	GRCh37	2	222428613	222428613	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM275T																					ENST00000281821.2:c.661G>T	p.Ala221Ser	p.A221S	ENST00000281821	NM_004438.3	221	Gct/Tct	0	validated		benign	
EPHA4		inserm.fr	GRCh37	2	222428956	222428956	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM337T																					ENST00000281821.2:c.318G>T	p.Arg106Ser	p.R106S	ENST00000281821	NM_004438.3	106	agG/agT	0	validated		probablydamaging	
EPHA4		inserm.fr	GRCh37	2	222428957	222428957	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM337T																					ENST00000281821.2:c.317G>T	p.Arg106Met	p.R106M	ENST00000281821	NM_004438.3	106	aGg/aTg	0	validated		probablydamaging	
ZNF257		inserm.fr	GRCh37	19	22255618	22255618	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1616T																					ENST00000594947.1:c.11T>A	p.Leu4Gln	p.L4Q	ENST00000594947	NM_033468.2	4	cTg/cAg	0	not done		probablydamaging	
TAF1A		inserm.fr	GRCh37	1	222757602	222757602	+	synonymous_variant	Silent	SNP	T	A	A			CHC1035T																					ENST00000350027.4:c.159A>T	p.Thr53=	p.T53=	ENST00000350027	NM_001201536.1	53	acA/acT	0	validated		synonymous	
ZNF645		inserm.fr	GRCh37	X	22291545	22291545	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1753T																					ENST00000323684.1:c.437C>A	p.Thr146Asn	p.T146N	ENST00000323684	NM_152577.3	146	aCc/aAc	0	not done		benign	
CASKIN1		inserm.fr	GRCh37	16	2230384	2230384	+	synonymous_variant	Silent	SNP	C	A	A			CHC2215T																					ENST00000343516.6:c.2985G>T	p.Thr995=	p.T995=	ENST00000343516	NM_020764.3	995	acG/acT	0	validated		synonymous	
PAX3		inserm.fr	GRCh37	2	223084888	223084888	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000392069.2:c.1144C>T	p.Pro382Ser	p.P382S	ENST00000392069	NM_001127366.2	382	Ccc/Tcc	0	not done		possiblydamaging	
CELA3B		inserm.fr	GRCh37	1	22310311	22310311	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000337107.6:c.487G>A	p.Gly163Ser	p.G163S	ENST00000337107	NM_007352.2	163	Ggc/Agc	0	not done		probablydamaging	
TRAV8-2		inserm.fr	GRCh37	14	22315112	22315112	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000390434.3:c.50G>A	p.Gly17Glu	p.G17E	ENST00000390434		17	gGa/gAa	0	not done			
DISP1		inserm.fr	GRCh37	1	223177027	223177027	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000284476.6:c.2288G>A	p.Arg763His	p.R763H	ENST00000284476	NM_032890.3	763	cGt/cAt	0	validated		probablydamaging	
CELA3A		inserm.fr	GRCh37	1	22332021	22332021	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000290122.3:c.211G>A	p.Ala71Thr	p.A71T	ENST00000290122	NM_005747.4	71	Gcc/Acc	0	not done		probablydamaging	
FARSB		inserm.fr	GRCh37	2	223436600	223436600	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000281828.6:c.1760C>T	p.Pro587Leu	p.P587L	ENST00000281828	NM_005687.3	587	cCc/cTc	0	not done		benign	
ST8SIA1		inserm.fr	GRCh37	12	22354667	22354667	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000396037.4:c.890C>T	p.Pro297Leu	p.P297L	ENST00000396037	NM_003034.3	297	cCc/cTc	0	not done		probablydamaging	
C1orf65		inserm.fr	GRCh37	1	223566905	223566905	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000366875.3:c.88C>A	p.Arg30=	p.R30=	ENST00000366875	NM_152610.2	30	Cgg/Agg	0	not done		synonymous	
C1orf65		inserm.fr	GRCh37	1	223567877	223567877	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000366875.3:c.1060G>A	p.Glu354Lys	p.E354K	ENST00000366875	NM_152610.2	354	Gag/Aag	0	not done		probablydamaging	
C1orf65		inserm.fr	GRCh37	1	223568524	223568524	+	synonymous_variant	Silent	SNP	G	A	A			CHC1915T																					ENST00000366875.3:c.1707G>A	p.Glu569=	p.E569=	ENST00000366875	NM_152610.2	569	gaG/gaA	0	validated		synonymous	
SLC17A6		inserm.fr	GRCh37	11	22363190	22363190	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2034T																					ENST00000263160.3:c.203C>A	p.Pro68His	p.P68H	ENST00000263160	NM_020346.2	68	cCc/cAc	0	not done		probablydamaging	
ZNF676		inserm.fr	GRCh37	19	22363847	22363847	+	synonymous_variant	Silent	SNP	G	A	A			CHC917T																					ENST00000397121.2:c.672C>T	p.Pro224=	p.P224=	ENST00000397121	NM_001001411.2	224	ccC/ccT	0	validated		synonymous	
CAPN8		inserm.fr	GRCh37	1	223717497	223717497	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2351T																					ENST00000366872.5:c.1895C>T	p.Ala632Val	p.A632V	ENST00000366872		632	gCg/gTg	0	not done		synonymous	
GPR125		inserm.fr	GRCh37	4	22389516	22389516	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2200T																					ENST00000334304.5:c.3778A>T	p.Thr1260Ser	p.T1260S	ENST00000334304	NM_145290.3	1260	Act/Tct	0	not done		benign	
TSR1		inserm.fr	GRCh37	17	2239705	2239705	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM269T									Valid												ENST00000301364.5:c.17C>T	p.Pro6Leu	p.P6L	ENST00000301364	NM_018128.4	6	cCc/cTc	0	validated		possiblydamaging	
SORBS3		inserm.fr	GRCh37	8	22422002	22422002	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC361TA																					ENST00000240123.7:c.784G>A	p.Asp262Asn	p.D262N	ENST00000240123	NM_005775.4	262	Gac/Aac	0	validated		benign	
SCG2		inserm.fr	GRCh37	2	224462785	224462785	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCB231T																					ENST00000305409.2:c.1216C>T	p.Gln406Ter	p.Q406*	ENST00000305409	NM_003469.4	406	Caa/Taa	0	validated		damaging	
SCG2		inserm.fr	GRCh37	2	224463036	224463036	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2052T																					ENST00000305409.2:c.965G>T	p.Gly322Val	p.G322V	ENST00000305409	NM_003469.4	322	gGa/gTa	0	not done		possiblydamaging	
SCG2		inserm.fr	GRCh37	2	224463470	224463470	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000305409.2:c.531C>T	p.Asn177=	p.N177=	ENST00000305409	NM_003469.4	177	aaC/aaT	0	not done		synonymous	
WNT4		inserm.fr	GRCh37	1	22446876	22446876	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000290167.6:c.723C>T	p.Ala241=	p.A241=	ENST00000290167	NM_030761.4	241	gcC/gcT	0	not done		synonymous	
GMDS		inserm.fr	GRCh37	6	2245612	2245612	+	synonymous_variant	Silent	SNP	C	A	A			CHC303T																					ENST00000380815.4:c.45G>T	p.Gly15=	p.G15=	ENST00000380815	NM_001500.3	15	ggG/ggT	0	validated		synonymous	
STEAP1B		inserm.fr	GRCh37	7	22478257	22478257	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000404369.4:c.880C>T	p.Pro294Ser	p.P294S	ENST00000404369	NM_001164460.1	294	Cca/Tca	0	not done			
AMH		inserm.fr	GRCh37	19	2249515	2249515	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM337T																					ENST00000221496.4:c.184G>A	p.Asp62Asn	p.D62N	ENST00000221496	NM_000479.3	62	Gac/Aac	0	validated		benign	
JSRP1		inserm.fr	GRCh37	19	2252334	2252334	+	synonymous_variant	Silent	SNP	C	A	A			CHC2141T																					ENST00000300961.6:c.990G>T	p.Arg330=	p.R330=	ENST00000300961	NM_144616.3	330	cgG/cgT	0	validated		synonymous	
FAM124B		inserm.fr	GRCh37	2	225265924	225265924	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000409685.3:c.562C>T	p.Leu188=	p.L188=	ENST00000409685	NM_001122779.1	188	Ctg/Ttg	0	not done		synonymous	
MORN1		inserm.fr	GRCh37	1	2252938	2252938	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1763T																					ENST00000378531.3:c.1378C>T	p.Arg460Trp	p.R460W	ENST00000378531	NM_024848.1	460	Cgg/Tgg	0	not done		probablydamaging	
STEAP1B		inserm.fr	GRCh37	7	22533174	22533174	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000404369.4:c.366C>T	p.Ser122=	p.S122=	ENST00000404369	NM_001164460.1	122	tcC/tcT	0	not done		synonymous	
CUL3		inserm.fr	GRCh37	2	225339002	225339002	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM617T																					ENST00000264414.4:c.2267G>T	p.Arg756Leu	p.R756L	ENST00000264414	NM_003590.4	756	cGa/cTa	0	validated		probablydamaging	
DNAH14		inserm.fr	GRCh37	1	225418806	225418806	+	synonymous_variant	Silent	SNP	G	A	A			CHC1594T																					ENST00000430092.1:c.6405G>A	p.Glu2135=	p.E2135=	ENST00000430092	NM_001373.1	2135	gaG/gaA	0	not done		synonymous	
LBR		inserm.fr	GRCh37	1	225607055	225607055	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000338179.2:c.550G>T	p.Glu184Ter	p.E184*	ENST00000338179	NM_194442.2	184	Gaa/Taa	0	not done		damaging	
FOXA2		inserm.fr	GRCh37	20	22563390	22563390	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000419308.2:c.490G>T	p.Ala164Ser	p.A164S	ENST00000419308	NM_021784.4	164	Gca/Tca	0	not done		benign	
FOXA2		inserm.fr	GRCh37	20	22563677	22563677	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM703T																					ENST00000419308.2:c.203C>T	p.Ser68Phe	p.S68F	ENST00000419308	NM_021784.4	68	tCc/tTc	0	validated		possiblydamaging	
DOCK10		inserm.fr	GRCh37	2	225651763	225651763	+	synonymous_variant	Silent	SNP	G	A	A			CHC1741T																					ENST00000258390.7:c.5631C>T	p.Tyr1877=	p.Y1877=	ENST00000258390	NM_014689.2	1877	taC/taT	0	not done		synonymous	
HDGFL1		inserm.fr	GRCh37	6	22569809	22569809	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCB167T																					ENST00000510882.2:c.5C>A	p.Ser2Ter	p.S2*	ENST00000510882		2	tCg/tAg	0	validated		damaging	
DOCK10		inserm.fr	GRCh37	2	225710240	225710240	+	synonymous_variant	Silent	SNP	C	A	A			CHC429T																					ENST00000258390.7:c.2355G>T	p.Thr785=	p.T785=	ENST00000258390	NM_014689.2	785	acG/acT	0	validated		synonymous	
DOCK10		inserm.fr	GRCh37	2	225738797	225738797	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000258390.7:c.1173C>T	p.Ala391=	p.A391=	ENST00000258390	NM_014689.2	391	gcC/gcT	0	not done		synonymous	
VPREB1		inserm.fr	GRCh37	22	22599255	22599255	+	synonymous_variant	Silent	SNP	G	A	A			CHC794T																					ENST00000403807.3:c.30G>A	p.Leu10=	p.L10=	ENST00000403807		10	ctG/ctA	0	validated		synonymous	
BRICD5		inserm.fr	GRCh37	16	2260170	2260170	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1708T																					ENST00000328540.3:c.293C>T	p.Pro98Leu	p.P98L	ENST00000328540	NM_182563.3	98	cCt/cTt	0	validated		probablydamaging	
SDHA		inserm.fr	GRCh37	5	226117	226117	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000264932.6:c.576G>A	p.Val192=	p.V192=	ENST00000264932	NM_004168.2	192	gtG/gtA	0	not done		synonymous	
LEFTY2		inserm.fr	GRCh37	1	226125280	226125280	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1754T																					ENST00000366820.5:c.962C>T	p.Thr321Ile	p.T321I	ENST00000366820	NM_003240.3	321	aCt/aTt	0	not done		possiblydamaging	
LEFTY2		inserm.fr	GRCh37	1	226127129	226127129	+	synonymous_variant	Silent	SNP	C	A	A			CHC1712T																					ENST00000366820.5:c.669G>T	p.Ser223=	p.S223=	ENST00000366820	NM_003240.3	223	tcG/tcT	0	not done		synonymous	
BMI1		inserm.fr	GRCh37	10	22618251	22618251	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000376663.3:c.761G>A	p.Gly254Glu	p.G254E	ENST00000376663	NM_005180.8	254	gGg/gAg	0	not done		benign	
C2CD5		inserm.fr	GRCh37	12	22624353	22624353	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1742T																					ENST00000333957.4:c.2338C>T	p.Pro780Ser	p.P780S	ENST00000333957	NM_014802.1	780	Cct/Tct	0	not done		probablydamaging	
NYAP2		inserm.fr	GRCh37	2	226378249	226378249	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1186T																					ENST00000272907.6:c.384C>A	p.Asp128Glu	p.D128E	ENST00000272907	NM_020864.1	128	gaC/gaA	0	not done		benign	
LIN9		inserm.fr	GRCh37	1	226455722	226455722	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC609T									Valid												ENST00000328205.5:c.800C>T	p.Thr267Ile	p.T267I	ENST00000328205	NM_173083.3	267	aCt/aTt	0	validated		probablydamaging	
NCAM2		inserm.fr	GRCh37	21	22656588	22656588	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T									Valid												ENST00000400546.1:c.205G>A	p.Val69Met	p.V69M	ENST00000400546	NM_004540.3	69	Gtg/Atg	0	validated		possiblydamaging	
ZNF521		inserm.fr	GRCh37	18	22669437	22669437	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1207T																					ENST00000361524.3:c.3898G>T	p.Glu1300Ter	p.E1300*	ENST00000361524	NM_015461.2	1300	Gag/Tag	0	not done		damaging	
C1orf95		inserm.fr	GRCh37	1	226784632	226784632	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC798T																					ENST00000366788.3:c.332T>A	p.Val111Glu	p.V111E	ENST00000366788	NM_001003665.3	111	gTg/gAg	0	validated		probablydamaging	
ITPKB		inserm.fr	GRCh37	1	226924058	226924058	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000429204.1:c.1102C>T	p.Pro368Ser	p.P368S	ENST00000429204	NM_002221.3	368	Ccc/Tcc	0	not done		benign	
ITPKB		inserm.fr	GRCh37	1	226924631	226924631	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000429204.1:c.529C>T	p.Pro177Ser	p.P177S	ENST00000429204	NM_002221.3	177	Ccg/Tcg	0	not done		probablydamaging	
NCAM2		inserm.fr	GRCh37	21	22696712	22696712	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2115T																					ENST00000400546.1:c.629C>A	p.Ala210Glu	p.A210E	ENST00000400546	NM_004540.3	210	gCa/gAa	0	validated		benign	
LOC96610		inserm.fr	GRCh37	22	22697927	22697927	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC451T																					ENST00000427632.2:c.215G>A	p.Gly72Asp	p.G72D	ENST00000427632		72	gGt/gAt	0	validated			
PSEN2		inserm.fr	GRCh37	1	227083170	227083170	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000366783.3:c.1237C>A	p.Leu413Met	p.L413M	ENST00000366783	NM_000447.2	413	Ctg/Atg	0	validated		probablydamaging	
ZFYVE28		inserm.fr	GRCh37	4	2272584	2272584	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC1717T																					ENST00000290974.2:c.2533-1G>T		p.X845_splice	ENST00000290974	NM_020972.2			0	not done		possiblydamaging	
ZFYVE28		inserm.fr	GRCh37	4	2273104	2273104	+	synonymous_variant	Silent	SNP	G	A	A			CHC434T																					ENST00000290974.2:c.2466C>T	p.Phe822=	p.F822=	ENST00000290974	NM_020972.2	822	ttC/ttT	0	validated		synonymous	
E4F1		inserm.fr	GRCh37	16	2273733	2273733	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000301727.4:c.119G>A	p.Ser40Asn	p.S40N	ENST00000301727	NM_004424.3	40	aGc/aAc	0	not done		benign	
FTSJ2		inserm.fr	GRCh37	7	2274958	2274958	+	synonymous_variant	Silent	SNP	C	A	A			CHC2351T																					ENST00000242257.8:c.540G>T	p.Val180=	p.V180=	ENST00000242257	NM_013393.1	180	gtG/gtT	0	not done		synonymous	
C19orf35		inserm.fr	GRCh37	19	2275793	2275793	+	synonymous_variant	Silent	SNP	T	A	A			CHC437T																					ENST00000342063.3:c.1308A>T	p.Ala436=	p.A436=	ENST00000342063	NM_198532.2	436	gcA/gcT	0	not done		synonymous	
C19orf35		inserm.fr	GRCh37	19	2275944	2275944	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000342063.3:c.1157C>T	p.Pro386Leu	p.P386L	ENST00000342063	NM_198532.2	386	cCc/cTc	0	not done		probablydamaging	
IRS1		inserm.fr	GRCh37	2	227659977	227659977	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM759T																					ENST00000305123.5:c.3478C>T	p.Pro1160Ser	p.P1160S	ENST00000305123	NM_005544.2	1160	Ccc/Tcc	0	validated		benign	
IRS1		inserm.fr	GRCh37	2	227661892	227661892	+	synonymous_variant	Silent	SNP	G	A	A			CHC218T																					ENST00000305123.5:c.1563C>T	p.Phe521=	p.F521=	ENST00000305123	NM_005544.2	521	ttC/ttT	0	not done		synonymous	
SGSM2		inserm.fr	GRCh37	17	2276714	2276714	+	synonymous_variant	Silent	SNP	C	A	A			CHC1591T																					ENST00000268989.3:c.2007C>A	p.Ala669=	p.A669=	ENST00000268989	NM_014853.2	669	gcC/gcA	0	not done		synonymous	
ZNF678		inserm.fr	GRCh37	1	227842852	227842852	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1744T																					ENST00000343776.5:c.901G>A	p.Ala301Thr	p.A301T	ENST00000343776	NM_178549.3	301	Gcc/Acc	0	not done		possiblydamaging	
COL4A4		inserm.fr	GRCh37	2	227912251	227912251	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC314T																					ENST00000396625.3:c.3229C>T	p.Pro1077Ser	p.P1077S	ENST00000396625	NM_000092.4	1077	Cct/Tct	0	validated		benign	
COL4A4		inserm.fr	GRCh37	2	227922167	227922167	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000396625.3:c.2533C>T	p.Pro845Ser	p.P845S	ENST00000396625	NM_000092.4	845	Cca/Tca	0	not done		possiblydamaging	
COL4A4		inserm.fr	GRCh37	2	227924205	227924205	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000396625.3:c.2299C>T	p.Leu767=	p.L767=	ENST00000396625	NM_000092.4	767	Ctg/Ttg	0	not done		synonymous	
COL4A4		inserm.fr	GRCh37	2	227924930	227924930	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2029T																					ENST00000396625.3:c.2086G>T	p.Ala696Ser	p.A696S	ENST00000396625	NM_000092.4	696	Gcc/Tcc	0	not done		benign	
COL4A4		inserm.fr	GRCh37	2	227924952	227924952	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1712T																					ENST00000396625.3:c.2064G>T	p.Lys688Asn	p.K688N	ENST00000396625	NM_000092.4	688	aaG/aaT	0	not done		probablydamaging	
SNAP47		inserm.fr	GRCh37	1	227935848	227935848	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000366759.4:c.546G>A	p.Ala182=	p.A182=	ENST00000366759	NM_053052.3	182	gcG/gcA	0	validated		synonymous	
SNAP47		inserm.fr	GRCh37	1	227946961	227946961	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC320T									Valid												ENST00000366759.4:c.898G>A	p.Val300Met	p.V300M	ENST00000366759	NM_053052.3	300	Gtg/Atg	0	validated		probablydamaging	
ZNF521		inserm.fr	GRCh37	18	22804710	22804710	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC451T																					ENST00000361524.3:c.3172G>T	p.Gly1058Cys	p.G1058C	ENST00000361524	NM_015461.2	1058	Ggc/Tgc	0	validated		benign	
ZNF521		inserm.fr	GRCh37	18	22806051	22806051	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM543T																					ENST00000361524.3:c.1831G>T	p.Ala611Ser	p.A611S	ENST00000361524	NM_015461.2	611	Gcc/Tcc	0	validated		benign	
ZNF521		inserm.fr	GRCh37	18	22807238	22807238	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC879T																					ENST00000361524.3:c.644G>T	p.Ser215Ile	p.S215I	ENST00000361524	NM_015461.2	215	aGt/aTt	0	not done		probablydamaging	
ZNF521		inserm.fr	GRCh37	18	22807371	22807371	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC703T																					ENST00000361524.3:c.511G>T	p.Asp171Tyr	p.D171Y	ENST00000361524	NM_015461.2	171	Gac/Tac	0	validated		probablydamaging	
ZNF521		inserm.fr	GRCh37	18	22807444	22807444	+	synonymous_variant	Silent	SNP	G	A	A			BCM375T																					ENST00000361524.3:c.438C>T	p.Phe146=	p.F146=	ENST00000361524	NM_015461.2	146	ttC/ttT	0	validated		synonymous	
MFF		inserm.fr	GRCh37	2	228217232	228217232	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1566T																					ENST00000353339.3:c.755C>A	p.Pro252His	p.P252H	ENST00000353339	NM_001277061.1	252	cCt/cAt	0	not done		probablydamaging	
WNT3A		inserm.fr	GRCh37	1	228238434	228238434	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000284523.1:c.391G>A	p.Gly131Ser	p.G131S	ENST00000284523	NM_033131.3	131	Ggc/Agc	0	not done		probablydamaging	
HS3ST2		inserm.fr	GRCh37	16	22826308	22826308	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000261374.3:c.377G>A	p.Gly126Asp	p.G126D	ENST00000261374	NM_006043.1	126	gGc/gAc	0	not done		probablydamaging	
MRPL55		inserm.fr	GRCh37	1	228295473	228295473	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM337T																					ENST00000366731.5:c.232C>T	p.Arg78Cys	p.R78C	ENST00000366731		78	Cgt/Tgt	0	validated		probablydamaging	
ZBTB40		inserm.fr	GRCh37	1	22838258	22838258	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000404138.1:c.2092G>A	p.Ala698Thr	p.A698T	ENST00000404138	NM_001083621.1	698	Gca/Aca	0	not done		benign	
OBSCN		inserm.fr	GRCh37	1	228412234	228412234	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1594T																					ENST00000570156.2:c.3004C>A	p.Leu1002Met	p.L1002M	ENST00000570156	NM_001271223.2	1002	Ctg/Atg	0	not done		probablydamaging	
OBSCN		inserm.fr	GRCh37	1	228451856	228451856	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000570156.2:c.5177G>A	p.Arg1726Lys	p.R1726K	ENST00000570156	NM_001271223.2	1726	aGg/aAg	0	not done		benign	
OBSCN		inserm.fr	GRCh37	1	228459690	228459690	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000570156.2:c.5754G>A	p.Glu1918=	p.E1918=	ENST00000570156	NM_001271223.2	1918	gaG/gaA	0	not done		synonymous	
OBSCN		inserm.fr	GRCh37	1	228462350	228462350	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2206T																					ENST00000570156.2:c.6886G>A	p.Val2296Met	p.V2296M	ENST00000570156	NM_001271223.2	2296	Gtg/Atg	0	not done		probablydamaging	
OBSCN		inserm.fr	GRCh37	1	228467060	228467060	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000570156.2:c.8598G>A	p.Met2866Ile	p.M2866I	ENST00000570156	NM_001271223.2	2866	atG/atA	0	not done		benign	
OBSCN		inserm.fr	GRCh37	1	228468483	228468483	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1595T																					ENST00000570156.2:c.9470G>A	p.Arg3157Gln	p.R3157Q	ENST00000570156	NM_001271223.2	3157	cGg/cAg	0	validated		probablydamaging	
OBSCN		inserm.fr	GRCh37	1	228471334	228471334	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000570156.2:c.10155G>A	p.Arg3385=	p.R3385=	ENST00000570156	NM_001271223.2	3385	cgG/cgA	0	not done		synonymous	
OBSCN		inserm.fr	GRCh37	1	228473913	228473913	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000570156.2:c.10426G>A	p.Ala3476Thr	p.A3476T	ENST00000570156	NM_001271223.2	3476	Gcc/Acc	0	not done		benign	
OBSCN		inserm.fr	GRCh37	1	228474722	228474722	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1715T																					ENST00000570156.2:c.10813T>A	p.Ser3605Thr	p.S3605T	ENST00000570156	NM_001271223.2	3605	Tcc/Acc	0	not done		possiblydamaging	
OBSCN		inserm.fr	GRCh37	1	228475399	228475399	+	synonymous_variant	Silent	SNP	G	A	A			BCM683T																					ENST00000570156.2:c.10836G>A	p.Arg3612=	p.R3612=	ENST00000570156	NM_001271223.2	3612	cgG/cgA	0	validated		synonymous	
OBSCN		inserm.fr	GRCh37	1	228475577	228475577	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1035T																					ENST00000570156.2:c.11014G>A	p.Val3672Ile	p.V3672I	ENST00000570156	NM_001271223.2	3672	Gtc/Atc	0	validated		benign	
OBSCN		inserm.fr	GRCh37	1	228475895	228475895	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000570156.2:c.11232G>A	p.Gly3744=	p.G3744=	ENST00000570156	NM_001271223.2	3744	ggG/ggA	0	not done		synonymous	
C2orf83		inserm.fr	GRCh37	2	228477730	228477730	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000264387.4:c.191-1358C>T		*64*	ENST00000264387	NM_020161.3			0	not done			
OBSCN		inserm.fr	GRCh37	1	228505292	228505292	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000570156.2:c.16560G>A	p.Glu5520=	p.E5520=	ENST00000570156	NM_001271223.2	5520	gaG/gaA	0	not done		synonymous	
OBSCN		inserm.fr	GRCh37	1	228521412	228521412	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2052T																					ENST00000570156.2:c.18856G>A	p.Gly6286Ser	p.G6286S	ENST00000570156	NM_001271223.2	6286	Ggc/Agc	0	not done		probablydamaging	
TOMM7		inserm.fr	GRCh37	7	22852806	22852806	+	splice_acceptor_variant	Splice_Site	SNP	T	A	A			CHC879T																					ENST00000358435.4:c.153-2A>T		p.X51_splice	ENST00000358435	NM_019059.3			0	not done		possiblydamaging	
OBSCN		inserm.fr	GRCh37	1	228539102	228539102	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2048T																					ENST00000570156.2:c.21371T>A	p.Leu7124Gln	p.L7124Q	ENST00000570156	NM_001271223.2	7124	cTg/cAg	0	not done		probablydamaging	
OBSCN		inserm.fr	GRCh37	1	228547697	228547697	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000570156.2:c.21533-2580G>A		*7178*	ENST00000570156	NM_001271223.2			0	not done		synonymous	
OBSCN		inserm.fr	GRCh37	1	228559476	228559476	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000570156.2:c.23868G>A	p.Gly7956=	p.G7956=	ENST00000570156	NM_001271223.2	7956	ggG/ggA	0	not done		synonymous	
OBSCN		inserm.fr	GRCh37	1	228559594	228559594	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC432T																					ENST00000570156.2:c.23986C>A	p.Gln7996Lys	p.Q7996K	ENST00000570156	NM_001271223.2	7996	Cag/Aag	0	not done		benign	
OBSCN		inserm.fr	GRCh37	1	228566085	228566085	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1736T																					ENST00000570156.2:c.26558T>A	p.Val8853Glu	p.V8853E	ENST00000570156	NM_001271223.2	8853	gTg/gAg	0	not done		probablydamaging	
OBSCN		inserm.fr	GRCh37	1	228566494	228566494	+	stop_lost	Nonstop_Mutation	SNP	T	A	A			CHC1756T																					ENST00000570156.2:c.26770T>A	p.Ter8924ArgextTer20	p.*8924Rext*20	ENST00000570156	NM_001271223.2	8924	Tga/Aga	0	not done			
TRIM17		inserm.fr	GRCh37	1	228596302	228596302	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB325T																					ENST00000366697.2:c.1034C>T	p.Ala345Val	p.A345V	ENST00000366697		345	gCc/gTc	0	validated		benign	
HIST3H3		inserm.fr	GRCh37	1	228612663	228612663	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000366696.1:c.364C>T	p.Pro122Ser	p.P122S	ENST00000366696	NM_003493.2	122	Cct/Tct	0	not done		possiblydamaging	
RHOBTB2		inserm.fr	GRCh37	8	22864475	22864475	+	synonymous_variant	Silent	SNP	G	A	A			CHC361TA																					ENST00000519685.1:c.783G>A	p.Pro261=	p.P261=	ENST00000519685	NM_001160036.1	261	ccG/ccA	0	validated		synonymous	
TUBGCP5		inserm.fr	GRCh37	15	22867014	22867014	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000283645.4:c.2531G>A	p.Gly844Asp	p.G844D	ENST00000283645	NM_052903.4	844	gGt/gAt	0	not done		benign	
ZNF280A		inserm.fr	GRCh37	22	22868604	22868604	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC796T																					ENST00000302097.3:c.1351C>T	p.Leu451Phe	p.L451F	ENST00000302097	NM_080740.3	451	Ctt/Ttt	0	validated		benign	
DNASE1L2		inserm.fr	GRCh37	16	2287956	2287956	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1052T																					ENST00000564065.1:c.780C>A	p.Ser260Arg	p.S260R	ENST00000564065		260	agC/agA	0	validated		probablydamaging	
TNFRSF10B		inserm.fr	GRCh37	8	22880326	22880326	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1061T									Valid												ENST00000276431.4:c.1181G>T	p.Gly394Val	p.G394V	ENST00000276431	NM_147187.2	394	gGg/gTg	0	validated		probablydamaging	
LINGO3		inserm.fr	GRCh37	19	2290183	2290183	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000585527.1:c.1593C>T	p.Thr531=	p.T531=	ENST00000585527		531	acC/acT	0	not done		synonymous	
LINGO3		inserm.fr	GRCh37	19	2290385	2290385	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM617T																					ENST00000585527.1:c.1391C>T	p.Thr464Met	p.T464M	ENST00000585527		464	aCg/aTg	0	validated		probablydamaging	
EPHA8		inserm.fr	GRCh37	1	22922617	22922617	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000166244.3:c.1716G>A	p.Lys572=	p.K572=	ENST00000166244	NM_020526.3	572	aaG/aaA	0	not done		synonymous	
EPHA8		inserm.fr	GRCh37	1	22924305	22924305	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000166244.3:c.2067G>A	p.Gly689=	p.G689=	ENST00000166244	NM_020526.3	689	ggG/ggA	0	not done		synonymous	
EPHA8		inserm.fr	GRCh37	1	22927943	22927943	+	synonymous_variant	Silent	SNP	C	A	A			CHC736T																					ENST00000166244.3:c.2880C>A	p.Gly960=	p.G960=	ENST00000166244	NM_020526.3	960	ggC/ggA	0	validated		synonymous	
EPHA8		inserm.fr	GRCh37	1	22928186	22928186	+	synonymous_variant	Silent	SNP	C	A	A			CHC322T																					ENST00000166244.3:c.2970C>A	p.Thr990=	p.T990=	ENST00000166244	NM_020526.3	990	acC/acA	0	validated		synonymous	
TRDV3		inserm.fr	GRCh37	14	22938571	22938571	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC1531T																					ENST00000535880.2:c.36C>T	p.Phe12=	p.F12=	ENST00000535880		12	ttC/ttT	0	not done		possiblydamaging	
ZNF99		inserm.fr	GRCh37	19	22942392	22942392	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM723T																					ENST00000596209.1:c.319G>T	p.Gly107Ter	p.G107*	ENST00000596209	NM_001080409.2	107	Gga/Tga	0	validated		damaging	
CYFIP1		inserm.fr	GRCh37	15	22954233	22954233	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000313077.7:c.1383G>A	p.Leu461=	p.L461=	ENST00000313077	NM_014608.2	461	ctG/ctA	0	not done		synonymous	
ACTA1		inserm.fr	GRCh37	1	229568328	229568328	+	synonymous_variant	Silent	SNP	G	A	A			CHC451T																					ENST00000366684.3:c.429C>T	p.Ser143=	p.S143=	ENST00000366684	NM_001100.3	143	tcC/tcT	0	validated		synonymous	
C1QC		inserm.fr	GRCh37	1	22973837	22973837	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2048T																					ENST00000374639.3:c.299G>A	p.Gly100Asp	p.G100D	ENST00000374639	NM_001114101.1	100	gGc/gAc	0	not done		probablydamaging	
C1QC		inserm.fr	GRCh37	1	22974153	22974153	+	synonymous_variant	Silent	SNP	C	A	A			CHC2103T																					ENST00000374639.3:c.615C>A	p.Gly205=	p.G205=	ENST00000374639	NM_001114101.1	205	ggC/ggA	0	not done		synonymous	
TGM3		inserm.fr	GRCh37	20	2297782	2297782	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1745T																					ENST00000381458.5:c.738C>A	p.Asp246Glu	p.D246E	ENST00000381458	NM_003245.3	246	gaC/gaA	0	not done		probablydamaging	
URB2		inserm.fr	GRCh37	1	229779383	229779383	+	synonymous_variant	Silent	SNP	G	A	A			CHC432T																					ENST00000258243.2:c.3738G>A	p.Val1246=	p.V1246=	ENST00000258243	NM_014777.2	1246	gtG/gtA	0	not done		synonymous	
URB2		inserm.fr	GRCh37	1	229790031	229790031	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000258243.2:c.4273G>A	p.Ala1425Thr	p.A1425T	ENST00000258243	NM_014777.2	1425	Gca/Aca	0	not done		probablydamaging	
HYCC1		inserm.fr	GRCh37	7	23015887	23015887	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1738T																					ENST00000432176.2:c.568G>T	p.Ala190Ser	p.A190S	ENST00000432176	NM_032581.3	190	Gct/Tct	0	not done		benign	
DDX53		inserm.fr	GRCh37	X	23018764	23018764	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000327968.5:c.590G>A	p.Arg197Lys	p.R197K	ENST00000327968	NM_182699.3	197	aGa/aAa	0	not done		probablydamaging	
DNER		inserm.fr	GRCh37	2	230341896	230341896	+	synonymous_variant	Silent	SNP	G	A	A			CHC736T																					ENST00000341772.4:c.1221C>T	p.Cys407=	p.C407=	ENST00000341772	NM_139072.3	407	tgC/tgT	0	validated		synonymous	
TNFRSF10A		inserm.fr	GRCh37	8	23056885	23056885	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1207T																					ENST00000221132.3:c.908C>T	p.Ala303Val	p.A303V	ENST00000221132	NM_003844.3	303	gCa/gTa	0	not done		benign	
DNER		inserm.fr	GRCh37	2	230578942	230578942	+	synonymous_variant	Silent	SNP	G	A	A			CHC1744T																					ENST00000341772.4:c.198C>T	p.Asp66=	p.D66=	ENST00000341772	NM_139072.3	66	gaC/gaT	0	validated		synonymous	
CD93		inserm.fr	GRCh37	20	23065341	23065341	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB151T																					ENST00000246006.4:c.1489G>T	p.Ala497Ser	p.A497S	ENST00000246006	NM_012072.3	497	Gct/Tct	0	validated		benign	
CD93		inserm.fr	GRCh37	20	23066500	23066500	+	synonymous_variant	Silent	SNP	C	A	A			BCM617T																					ENST00000246006.4:c.330G>T	p.Pro110=	p.P110=	ENST00000246006	NM_012072.3	110	ccG/ccT	0	validated		synonymous	
ZFYVE28		inserm.fr	GRCh37	4	2306839	2306839	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000290974.2:c.1228G>T	p.Ala410Ser	p.A410S	ENST00000290974	NM_020972.2	410	Gca/Tca	0	not done		benign	
TGM3		inserm.fr	GRCh37	20	2308878	2308878	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000381458.5:c.1200G>A	p.Trp400Ter	p.W400*	ENST00000381458	NM_003245.3	400	tgG/tgA	0	not done		damaging	
CAPN9		inserm.fr	GRCh37	1	230891082	230891082	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000271971.2:c.214-1G>A		p.X72_splice	ENST00000271971	NM_006615.2			0	not done		damaging	
SLC16A14		inserm.fr	GRCh37	2	230911040	230911040	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1744T																					ENST00000295190.4:c.802C>T	p.Pro268Ser	p.P268S	ENST00000295190	NM_152527.4	268	Ccc/Tcc	0	not done		benign	
CAPN9		inserm.fr	GRCh37	1	230916366	230916366	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1712T																					ENST00000271971.2:c.1393G>A	p.Glu465Lys	p.E465K	ENST00000271971	NM_006615.2	465	Gag/Aag	0	not done		benign	
C1orf198		inserm.fr	GRCh37	1	230991453	230991453	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1737T																					ENST00000366663.5:c.345G>T	p.Trp115Cys	p.W115C	ENST00000366663	NM_032800.2	115	tgG/tgT	0	validated		probablydamaging	
TTC13		inserm.fr	GRCh37	1	231079641	231079641	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1595T																					ENST00000366661.4:c.583A>T	p.Ile195Phe	p.I195F	ENST00000366661	NM_024525.4	195	Att/Ttt	0	validated		benign	
CHMP7		inserm.fr	GRCh37	8	23112899	23112899	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1154T																					ENST00000397677.1:c.611T>A	p.Leu204Gln	p.L204Q	ENST00000397677	NM_152272.3	204	cTg/cAg	0	not done		probablydamaging	
SP140L		inserm.fr	GRCh37	2	231250017	231250017	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1566T																					ENST00000415673.2:c.782G>A	p.Arg261Lys	p.R261K	ENST00000415673	NM_138402.4	261	aGg/aAg	0	not done		benign	
TRIM67		inserm.fr	GRCh37	1	231349578	231349578	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1601T																					ENST00000366653.5:c.2141G>A	p.Cys714Tyr	p.C714Y	ENST00000366653		714	tGc/tAc	0	not done		benign	
SP100		inserm.fr	GRCh37	2	231379951	231379951	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC304T																					ENST00000502802.1:n.214G>A		*72*	ENST00000502802				0	validated		benign	
GNPAT		inserm.fr	GRCh37	1	231402110	231402110	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000366647.4:c.1012G>A	p.Ala338Thr	p.A338T	ENST00000366647	NM_014236.3	338	Gca/Aca	0	not done		benign	
EXOC8		inserm.fr	GRCh37	1	231473259	231473259	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC303T									Valid												ENST00000360394.2:c.233C>T	p.Ser78Phe	p.S78F	ENST00000360394	NM_175876.3	78	tCc/tTc	0	validated		probablydamaging	
R3HCC1		inserm.fr	GRCh37	8	23147896	23147896	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000265806.6:c.205G>A	p.Ala69Thr	p.A69T	ENST00000265806	NM_001136108.1	69	Gca/Aca	0	not done		benign	
ZNF728		inserm.fr	GRCh37	19	23159513	23159513	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000594710.1:c.626C>T	p.Ala209Val	p.A209V	ENST00000594710	NM_001267716.1	209	gCc/gTc	0	not done			
DISC1		inserm.fr	GRCh37	1	231829927	231829927	+	synonymous_variant	Silent	SNP	T	A	A			CHC798T																					ENST00000366633.3:c.423T>A	p.Ala141=	p.A141=	ENST00000366633	NM_001164539.1	141	gcT/gcA	0	validated		synonymous	
SCNN1G		inserm.fr	GRCh37	16	23197860	23197860	+	synonymous_variant	Silent	SNP	C	A	A			CHC322T																					ENST00000300061.2:c.268C>A	p.Arg90=	p.R90=	ENST00000300061	NM_001039.3	90	Cgg/Agg	0	validated		synonymous	
C11orf21		inserm.fr	GRCh37	11	2320835	2320835	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000456145.2:c.388C>T	p.Leu130=	p.L130=	ENST00000456145	NM_001142946.1	130	Ctg/Ttg	0	not done		synonymous	
ARMC9		inserm.fr	GRCh37	2	232100004	232100004	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000349938.4:c.690G>A	p.Arg230=	p.R230=	ENST00000349938	NM_025139.4	230	cgG/cgA	0	not done		synonymous	
C11orf21		inserm.fr	GRCh37	11	2321783	2321783	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2206T																					ENST00000456145.2:c.252G>T	p.Trp84Cys	p.W84C	ENST00000456145	NM_001142946.1	84	tgG/tgT	0	not done		probablydamaging	
SCNN1G		inserm.fr	GRCh37	16	23221138	23221138	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC898T																					ENST00000300061.2:c.1145G>A	p.Arg382Lys	p.R382K	ENST00000300061	NM_001039.3	382	aGg/aAg	0	not done		benign	
ARMC9		inserm.fr	GRCh37	2	232225540	232225540	+	upstream_gene_variant	5'Flank	SNP	C	A	A			CHC1591T																								ENST00000583710				0	not done			
NUPL2		inserm.fr	GRCh37	7	23224777	23224777	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000258742.5:c.210G>A	p.Gly70=	p.G70=	ENST00000258742	NM_007342.2	70	ggG/ggA	0	not done		synonymous	
C2orf57		inserm.fr	GRCh37	2	232458619	232458619	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2362T																					ENST00000313965.2:c.957C>A	p.Asp319Glu	p.D319E	ENST00000313965	NM_152614.2	319	gaC/gaA	0	validated		probablydamaging	
SIPA1L2		inserm.fr	GRCh37	1	232575072	232575072	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000366630.1:c.3813C>T	p.Pro1271=	p.P1271=	ENST00000366630		1271	ccC/ccT	0	not done		synonymous	
SIPA1L2		inserm.fr	GRCh37	1	232581334	232581334	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000366630.1:c.3294G>T	p.Gln1098His	p.Q1098H	ENST00000366630		1098	caG/caT	0	not done		benign	
SIPA1L2		inserm.fr	GRCh37	1	232601072	232601072	+	synonymous_variant	Silent	SNP	G	A	A			CHC1616T																					ENST00000366630.1:c.2334C>T	p.Asp778=	p.D778=	ENST00000366630		778	gaC/gaT	0	not done		synonymous	
SPPL2B		inserm.fr	GRCh37	19	2328723	2328723	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC1598T																					ENST00000452401.2:n.95G>A		*32*	ENST00000452401				0	not done		synonymous	
MAP10		inserm.fr	GRCh37	1	232942101	232942101	+	synonymous_variant	Silent	SNP	T	A	A			CHC301T																					ENST00000418460.1:c.1332T>A	p.Pro444=	p.P444=	ENST00000418460	NM_019090.2	444	ccT/ccA	0	validated		synonymous	
GPNMB		inserm.fr	GRCh37	7	23307516	23307516	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000381990.2:c.1165G>A	p.Glu389Lys	p.E389K	ENST00000381990	NM_002510.2	389	Gag/Aag	0	not done		possiblydamaging	
GPNMB		inserm.fr	GRCh37	7	23309730	23309730	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC197T									Valid												ENST00000381990.2:c.1401C>A	p.Asn467Lys	p.N467K	ENST00000381990	NM_002510.2	467	aaC/aaA	0	validated		probablydamaging	
PCNXL2		inserm.fr	GRCh37	1	233121958	233121958	+	synonymous_variant	Silent	SNP	G	A	A			BCM265T																					ENST00000258229.9:c.6120C>T	p.Ser2040=	p.S2040=	ENST00000258229	NM_014801.3	2040	agC/agT	0	validated		synonymous	
MMP14		inserm.fr	GRCh37	14	23312495	23312495	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1742T																					ENST00000311852.6:c.718G>A	p.Glu240Lys	p.E240K	ENST00000311852	NM_004995.3	240	Gag/Aag	0	not done		probablydamaging	
SIRT3		inserm.fr	GRCh37	11	233209	233209	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000382743.4:c.480G>T	p.Pro160=	p.P160=	ENST00000382743	NM_012239.5	160	ccG/ccT	0	not done		synonymous	
ALPP		inserm.fr	GRCh37	2	233244524	233244524	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000392027.2:c.535G>A	p.Ala179Thr	p.A179T	ENST00000392027	NM_001632.3	179	Gcc/Acc	0	not done		probablydamaging	
ALPP		inserm.fr	GRCh37	2	233244599	233244599	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000392027.2:c.610G>A	p.Gly204Arg	p.G204R	ENST00000392027	NM_001632.3	204	Ggg/Agg	0	not done		probablydamaging	
ALPP		inserm.fr	GRCh37	2	233244985	233244985	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000392027.2:c.747G>A	p.Arg249=	p.R249=	ENST00000392027	NM_001632.3	249	agG/agA	0	not done		synonymous	
ALPP		inserm.fr	GRCh37	2	233246492	233246492	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000392027.2:c.1595C>A	p.Ala532Asp	p.A532D	ENST00000392027	NM_001632.3	532	gCc/gAc	0	validated		benign	
ALPPL2		inserm.fr	GRCh37	2	233273095	233273095	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC429T									Valid												ENST00000295453.3:c.767G>A	p.Trp256Ter	p.W256*	ENST00000295453	NM_031313.2	256	tGg/tAg	0	validated		damaging	
ZNF730		inserm.fr	GRCh37	19	23328649	23328649	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2034T																					ENST00000597761.2:c.803C>A	p.Ser268Tyr	p.S268Y	ENST00000597761	NM_001277403.1	268	tCc/tAc	0	not done			
ECEL1		inserm.fr	GRCh37	2	233351181	233351181	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000304546.1:c.183C>T	p.Cys61=	p.C61=	ENST00000304546	NM_004826.2	61	tgC/tgT	0	not done		synonymous	
PRSS56		inserm.fr	GRCh37	2	233388139	233388139	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000449534.2:c.863G>A	p.Gly288Asp	p.G288D	ENST00000449534	NM_001195129.1	288	gGc/gAc	0	not done			
PRSS56		inserm.fr	GRCh37	2	233388641	233388641	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000449534.2:c.1175G>A	p.Arg392His	p.R392H	ENST00000449534	NM_001195129.1	392	cGc/cAc	0	not done			
TIGD1		inserm.fr	GRCh37	2	233412839	233412839	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000408957.3:c.1754G>T	p.Arg585Leu	p.R585L	ENST00000408957	NM_145702.1	585	cGa/cTa	0	not done		possiblydamaging	
EFHD1		inserm.fr	GRCh37	2	233546301	233546301	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000264059.3:c.592G>A	p.Ala198Thr	p.A198T	ENST00000264059	NM_025202.3	198	Gcc/Acc	0	not done		probablydamaging	
IGF2BP3		inserm.fr	GRCh37	7	23391093	23391093	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1081T																					ENST00000258729.3:c.514C>T	p.Arg172Trp	p.R172W	ENST00000258729	NM_006547.2	172	Cgg/Tgg	0	validated		probablydamaging	
COG7		inserm.fr	GRCh37	16	23409402	23409402	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC121T																					ENST00000307149.5:c.1852G>T	p.Ala618Ser	p.A618S	ENST00000307149	NM_153603.3	618	Gcc/Tcc	0	validated		benign	
INPP5D		inserm.fr	GRCh37	2	234112880	234112880	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM783T																					ENST00000359570.5:c.3048C>A	p.Phe1016Leu	p.F1016L	ENST00000359570		1016	ttC/ttA	0	validated		probablydamaging	
INPP5D		inserm.fr	GRCh37	2	234113283	234113283	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1556T																					ENST00000359570.5:c.3451G>A	p.Asp1151Asn	p.D1151N	ENST00000359570		1151	Gac/Aac	0	not done		synonymous	
ATG16L1		inserm.fr	GRCh37	2	234171796	234171796	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC451T																					ENST00000392017.4:c.230G>A	p.Trp77Ter	p.W77*	ENST00000392017	NM_001190266.1	77	tGg/tAg	0	validated		damaging	
LUZP1		inserm.fr	GRCh37	1	23418983	23418983	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2321T																					ENST00000302291.4:c.1772A>T	p.Asp591Val	p.D591V	ENST00000302291		591	gAt/gTt	0	validated		possiblydamaging	
SAG		inserm.fr	GRCh37	2	234237200	234237200	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000409110.1:c.589G>A	p.Ala197Thr	p.A197T	ENST00000409110	NM_000541.4	197	Gcc/Acc	0	not done		benign	
CSTL1		inserm.fr	GRCh37	20	23425443	23425443	+	synonymous_variant	Silent	SNP	C	A	A			CHC1185T																					ENST00000347397.1:c.366C>A	p.Pro122=	p.P122=	ENST00000347397	NM_138283.1	122	ccC/ccA	0	not done		synonymous	
DGKD		inserm.fr	GRCh37	2	234357879	234357879	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000264057.2:c.1745G>A	p.Ser582Asn	p.S582N	ENST00000264057	NM_152879.2	582	aGc/aAc	0	not done		benign	
UGT1A8		inserm.fr	GRCh37	2	234526407	234526407	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000373450.4:c.54G>A	p.Leu18=	p.L18=	ENST00000373450	NM_019076.4	18	ctG/ctA	0	not done		synonymous	
UGT1A10		inserm.fr	GRCh37	2	234545472	234545472	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000344644.5:c.304G>A	p.Ala102Thr	p.A102T	ENST00000344644	NM_019075.2	102	Gca/Aca	0	not done		benign	
UGT1A1		inserm.fr	GRCh37	2	234669258	234669258	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000305208.5:c.325G>A	p.Val109Met	p.V109M	ENST00000305208	NM_000463.2	109	Gtg/Atg	0	not done		benign	
PTF1A		inserm.fr	GRCh37	10	23482646	23482646	+	synonymous_variant	Silent	SNP	C	A	A			CHC2200T																					ENST00000376504.3:c.798C>A	p.Pro266=	p.P266=	ENST00000376504	NM_178161.2	266	ccC/ccA	0	validated		synonymous	
TRPM8		inserm.fr	GRCh37	2	234847747	234847747	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC434T									Valid												ENST00000324695.4:c.454G>A	p.Ala152Thr	p.A152T	ENST00000324695	NM_024080.4	152	Gcc/Acc	0	validated		probablydamaging	
PRDM9		inserm.fr	GRCh37	5	23522808	23522808	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000296682.3:c.696G>A	p.Lys232=	p.K232=	ENST00000296682	NM_020227.2	232	aaG/aaA	0	not done		synonymous	
PRDM9		inserm.fr	GRCh37	5	23526595	23526595	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000296682.3:c.1398G>A	p.Arg466=	p.R466=	ENST00000296682	NM_020227.2	466	agG/agA	0	not done		synonymous	
RBM34		inserm.fr	GRCh37	1	235301490	235301490	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC306T									Valid												ENST00000408888.3:c.702-1G>T		p.X234_splice	ENST00000408888				0	validated		damaging	
ARID4B		inserm.fr	GRCh37	1	235345750	235345750	+	synonymous_variant	Silent	SNP	G	A	A			CHC1545T																					ENST00000264183.3:c.2484C>T	p.Cys828=	p.C828=	ENST00000264183	NM_016374.5	828	tgC/tgT	0	not done		synonymous	
EARS2		inserm.fr	GRCh37	16	23536564	23536564	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC1192T																					ENST00000449606.1:c.1488+1G>T		p.X496_splice	ENST00000449606	NM_001083614.1			0	not done		possiblydamaging	
CYorf17		inserm.fr	GRCh37	Y	23545442	23545442	+	synonymous_variant	Silent	SNP	C	A	A			BCM739T																					ENST00000382764.1:c.330G>T	p.Leu110=	p.L110=	ENST00000382764	NM_001282471.1	110	ctG/ctT	0	validated		synonymous	
CST9L		inserm.fr	GRCh37	20	23546691	23546691	+	synonymous_variant	Silent	SNP	G	A	A			BCM257T																					ENST00000376979.3:c.274C>T	p.Leu92=	p.L92=	ENST00000376979	NM_080610.2	92	Ctg/Ttg	0	validated		synonymous	
TBCE		inserm.fr	GRCh37	1	235577863	235577863	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000366601.3:c.301G>A	p.Glu101Lys	p.E101K	ENST00000366601		101	Gag/Aag	0	not done		benign	
EARS2		inserm.fr	GRCh37	16	23568592	23568592	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000449606.1:c.73C>T	p.Arg25Cys	p.R25C	ENST00000449606	NM_001083614.1	25	Cgc/Tgc	0	not done		benign	
CEBPE		inserm.fr	GRCh37	14	23587832	23587832	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC205T																					ENST00000206513.5:c.469C>T	p.Pro157Ser	p.P157S	ENST00000206513	NM_001805.3	157	Cca/Tca	0	validated		probablydamaging	
LYST		inserm.fr	GRCh37	1	235904811	235904811	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC155T																					ENST00000389794.3:c.8269G>T	p.Ala2757Ser	p.A2757S	ENST00000389794		2757	Gct/Tct	0	validated		benign	
SH3BP4		inserm.fr	GRCh37	2	235951275	235951275	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000409212.1:c.1862G>A	p.Gly621Glu	p.G621E	ENST00000409212		621	gGg/gAg	0	not done		probablydamaging	
SH3BP4		inserm.fr	GRCh37	2	235951282	235951282	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000409212.1:c.1869G>A	p.Arg623=	p.R623=	ENST00000409212		623	agG/agA	0	not done		synonymous	
NID1		inserm.fr	GRCh37	1	236142317	236142317	+	synonymous_variant	Silent	SNP	C	A	A			CHC2208T																					ENST00000264187.6:c.3600G>T	p.Thr1200=	p.T1200=	ENST00000264187	NM_002508.2	1200	acG/acT	0	not done		synonymous	
CST3		inserm.fr	GRCh37	20	23618266	23618266	+	synonymous_variant	Silent	SNP	G	A	A			CHC2048T																					ENST00000398411.1:c.234C>T	p.Ala78=	p.A78=	ENST00000398411	NM_001288614.1	78	gcC/gcT	0	validated		synonymous	
CST3		inserm.fr	GRCh37	20	23618376	23618376	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2112T																					ENST00000398411.1:c.124G>T	p.Ala42Ser	p.A42S	ENST00000398411	NM_001288614.1	42	Gcc/Tcc	0	validated		possiblydamaging	
ERO1LB		inserm.fr	GRCh37	1	236445048	236445048	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2127T																					ENST00000354619.5:c.36G>T	p.Gln12His	p.Q12H	ENST00000354619	NM_019891.3	12	caG/caT	0	validated		benign	
AGAP1		inserm.fr	GRCh37	2	236578956	236578956	+	intron_variant	Intron	SNP	G	A	A			CHC1744T																					ENST00000304032.8:c.164-38867G>A		*55*	ENST00000304032	NM_001037131.2			0	validated		synonymous	
GOLGA6L2		inserm.fr	GRCh37	15	23686748	23686748	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000567107.1:c.874G>T	p.Glu292Ter	p.E292*	ENST00000567107		292	Gag/Tag	0	not done		damaging	
AGAP1		inserm.fr	GRCh37	2	236877233	236877233	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB151T									Valid												ENST00000304032.8:c.1611C>A	p.Asn537Lys	p.N537K	ENST00000304032	NM_001037131.2	537	aaC/aaA	0	validated		possiblydamaging	
ZNF436		inserm.fr	GRCh37	1	23688552	23688552	+	synonymous_variant	Silent	SNP	C	A	A			CHC1715T																					ENST00000314011.4:c.1323G>T	p.Thr441=	p.T441=	ENST00000314011	NM_001077195.1	441	acG/acT	0	not done		synonymous	
ACTN2		inserm.fr	GRCh37	1	236899007	236899007	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000366578.4:c.770C>A	p.Ala257Glu	p.A257E	ENST00000366578	NM_001278344.1	257	gCg/gAg	0	not done		possiblydamaging	
STC1		inserm.fr	GRCh37	8	23702483	23702483	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000290271.2:c.544C>T	p.Leu182=	p.L182=	ENST00000290271	NM_003155.2	182	Ctg/Ttg	0	not done		synonymous	
AGAP1		inserm.fr	GRCh37	2	237032729	237032729	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000304032.8:c.2537G>A	p.Arg846Gln	p.R846Q	ENST00000304032	NM_001037131.2	846	cGg/cAg	0	not done		benign	
MTR		inserm.fr	GRCh37	1	237054581	237054581	+	synonymous_variant	Silent	SNP	G	A	A			CHC429T																					ENST00000366577.5:c.3156G>A	p.Val1052=	p.V1052=	ENST00000366577	NM_000254.2	1052	gtG/gtA	0	validated		synonymous	
GBX2		inserm.fr	GRCh37	2	237076180	237076180	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1209T																					ENST00000306318.4:c.435G>T	p.Gln145His	p.Q145H	ENST00000306318	NM_001485.2	145	caG/caT	0	not done		possiblydamaging	
GBX2		inserm.fr	GRCh37	2	237076248	237076248	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC801T																					ENST00000306318.4:c.367G>T	p.Ala123Ser	p.A123S	ENST00000306318	NM_001485.2	123	Gcg/Tcg	0	not done		benign	
ASB18		inserm.fr	GRCh37	2	237123164	237123164	+	synonymous_variant	Silent	SNP	C	A	A			CHC1186T																					ENST00000409749.3:c.942G>T	p.Arg314=	p.R314=	ENST00000409749	NM_212556.2	314	cgG/cgT	0	validated		synonymous	
ASB18		inserm.fr	GRCh37	2	237123165	237123165	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1186T																					ENST00000409749.3:c.941G>T	p.Arg314Leu	p.R314L	ENST00000409749	NM_212556.2	314	cGg/cTg	0	validated		benign	
ASB18		inserm.fr	GRCh37	2	237123384	237123384	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB111T																					ENST00000409749.3:c.722G>T	p.Arg241Leu	p.R241L	ENST00000409749	NM_212556.2	241	cGc/cTc	0	validated		benign	
ERN2		inserm.fr	GRCh37	16	23716290	23716290	+	synonymous_variant	Silent	SNP	G	A	A			CHC799T																					ENST00000256797.4:c.912C>T	p.Leu304=	p.L304=	ENST00000256797	NM_033266.3	304	ctC/ctT	0	not done		synonymous	
PSMA8		inserm.fr	GRCh37	18	23724523	23724523	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC051T																					ENST00000308268.6:c.103G>A	p.Val35Ile	p.V35I	ENST00000308268	NM_144662.2	35	Gtc/Atc	0	validated		damaging	
ERN2		inserm.fr	GRCh37	16	23724641	23724641	+	synonymous_variant	Silent	SNP	C	A	A			CHC1035T																					ENST00000256797.4:c.12G>T	p.Ala4=	p.A4=	ENST00000256797	NM_033266.3	4	gcG/gcT	0	validated		synonymous	
HOMEZ		inserm.fr	GRCh37	14	23745997	23745997	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T									Valid												ENST00000357460.5:c.440G>T	p.Arg147Leu	p.R147L	ENST00000357460	NM_020834.2	147	cGg/cTg	0	validated		probablydamaging	
ACOT9		inserm.fr	GRCh37	X	23748643	23748643	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC1725T																					ENST00000379303.5:c.400+1G>T		p.X134_splice	ENST00000379303	NM_001037171.1			0	not done		possiblydamaging	
TGM6		inserm.fr	GRCh37	20	2375188	2375188	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000202625.2:c.98G>A	p.Arg33His	p.R33H	ENST00000202625	NM_198994.2	33	cGc/cAc	0	not done		probablydamaging	
RYR2		inserm.fr	GRCh37	1	237532856	237532856	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1775T																					ENST00000366574.2:c.332G>A	p.Arg111Gln	p.R111Q	ENST00000366574	NM_001035.2	111	cGa/cAa	0	validated		probablydamaging	
RYR2		inserm.fr	GRCh37	1	237550650	237550650	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1745T																					ENST00000366574.2:c.646C>A	p.Pro216Thr	p.P216T	ENST00000366574	NM_001035.2	216	Cca/Aca	0	not done		possiblydamaging	
TGM6		inserm.fr	GRCh37	20	2376024	2376024	+	synonymous_variant	Silent	SNP	C	A	A			CHC2098T																					ENST00000202625.2:c.366C>A	p.Arg122=	p.R122=	ENST00000202625	NM_198994.2	122	cgC/cgA	0	not done		synonymous	
RYR2		inserm.fr	GRCh37	1	237604757	237604757	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1531T																					ENST00000366574.2:c.1144G>A	p.Val382Met	p.V382M	ENST00000366574	NM_001035.2	382	Gtg/Atg	0	not done		probablydamaging	
ASAP3		inserm.fr	GRCh37	1	23763676	23763676	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000336689.3:c.1289C>T	p.Ala430Val	p.A430V	ENST00000336689	NM_017707.3	430	gCg/gTg	0	validated		probablydamaging	
RYR2		inserm.fr	GRCh37	1	237656259	237656259	+	synonymous_variant	Silent	SNP	G	A	A			CHC1715T																					ENST00000366574.2:c.1833G>A	p.Leu611=	p.L611=	ENST00000366574	NM_001035.2	611	ctG/ctA	0	not done		synonymous	
CHP2		inserm.fr	GRCh37	16	23766389	23766389	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM455T																					ENST00000300113.2:c.19C>A	p.His7Asn	p.H7N	ENST00000300113	NM_022097.3	7	Cac/Aac	0	validated		benign	
RYR2		inserm.fr	GRCh37	1	237753136	237753136	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000366574.2:c.3642G>A	p.Arg1214=	p.R1214=	ENST00000366574	NM_001035.2	1214	agG/agA	0	not done		synonymous	
RYR2		inserm.fr	GRCh37	1	237754091	237754091	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2206T																					ENST00000366574.2:c.3959G>A	p.Gly1320Glu	p.G1320E	ENST00000366574	NM_001035.2	1320	gGa/gAa	0	not done		benign	
RYR2		inserm.fr	GRCh37	1	237774207	237774207	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000366574.2:c.4829G>A	p.Arg1610Gln	p.R1610Q	ENST00000366574	NM_001035.2	1610	cGa/cAa	0	not done		probablydamaging	
RYR2		inserm.fr	GRCh37	1	237802361	237802361	+	synonymous_variant	Silent	SNP	T	A	A			CHC1154T																					ENST00000366574.2:c.6975T>A	p.Ile2325=	p.I2325=	ENST00000366574	NM_001035.2	2325	atT/atA	0	not done		synonymous	
RYR2		inserm.fr	GRCh37	1	237811777	237811777	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC301T									Valid												ENST00000366574.2:c.7376G>A	p.Gly2459Glu	p.G2459E	ENST00000366574	NM_001035.2	2459	gGg/gAg	0	validated		probablydamaging	
RYR2		inserm.fr	GRCh37	1	237838058	237838058	+	synonymous_variant	Silent	SNP	G	A	A			CHC1611T																					ENST00000366574.2:c.8742G>A	p.Thr2914=	p.T2914=	ENST00000366574	NM_001035.2	2914	acG/acA	0	not done		synonymous	
RYR2		inserm.fr	GRCh37	1	237880646	237880646	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC879T																					ENST00000366574.2:c.10472T>A	p.Leu3491Gln	p.L3491Q	ENST00000366574	NM_001035.2	3491	cTg/cAg	0	not done		probablydamaging	
RYR2		inserm.fr	GRCh37	1	237897015	237897015	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1629T																					ENST00000366574.2:c.11050G>A	p.Glu3684Lys	p.E3684K	ENST00000366574	NM_001035.2	3684	Gaa/Aaa	0	not done		benign	
ZP4		inserm.fr	GRCh37	1	238048804	238048804	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM723T																					ENST00000366570.4:c.1047G>T	p.Glu349Asp	p.E349D	ENST00000366570	NM_021186.3	349	gaG/gaT	0	validated		possiblydamaging	
ZP4		inserm.fr	GRCh37	1	238053267	238053267	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000366570.4:c.300C>T	p.Asp100=	p.D100=	ENST00000366570	NM_021186.3	100	gaC/gaT	0	not done		synonymous	
TAF4B		inserm.fr	GRCh37	18	23806939	23806939	+	synonymous_variant	Silent	SNP	G	A	A			CHC1708T																					ENST00000269142.5:c.42G>A	p.Pro14=	p.P14=	ENST00000269142	NM_005640.1	14	ccG/ccA	0	validated		synonymous	
MKRN3		inserm.fr	GRCh37	15	23812318	23812318	+	synonymous_variant	Silent	SNP	G	A	A			CHC322T																					ENST00000314520.3:c.1389G>A	p.Lys463=	p.K463=	ENST00000314520	NM_005664.3	463	aaG/aaA	0	validated		synonymous	
SLC22A17		inserm.fr	GRCh37	14	23815982	23815982	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1712T																					ENST00000397267.1:c.1492C>T	p.Arg498Cys	p.R498C	ENST00000397267		498	Cgc/Tgc	0	not done		probablydamaging	
SLC22A17		inserm.fr	GRCh37	14	23821173	23821173	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000397267.1:c.251C>T	p.Thr84Ile	p.T84I	ENST00000397267		84	aCc/aTc	0	not done		benign	
COL6A3		inserm.fr	GRCh37	2	238247659	238247659	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000295550.4:c.8566G>T	p.Val2856Leu	p.V2856L	ENST00000295550	NM_004369.3	2856	Gta/Tta	0	not done		possiblydamaging	
COL6A3		inserm.fr	GRCh37	2	238249339	238249339	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000295550.4:c.8220C>T	p.Val2740=	p.V2740=	ENST00000295550	NM_004369.3	2740	gtC/gtT	0	not done		synonymous	
COL6A3		inserm.fr	GRCh37	2	238275728	238275728	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1624T																					ENST00000295550.4:c.5102A>T	p.Gln1701Leu	p.Q1701L	ENST00000295550	NM_004369.3	1701	cAg/cTg	0	validated		benign	
IL25		inserm.fr	GRCh37	14	23844981	23844981	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000329715.2:c.426G>A	p.Arg142=	p.R142=	ENST00000329715	NM_022789.3	142	cgG/cgA	0	not done		synonymous	
SGCG		inserm.fr	GRCh37	13	23853580	23853580	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000218867.3:c.468G>A	p.Lys156=	p.K156=	ENST00000218867	NM_000231.2	156	aaG/aaA	0	not done		synonymous	
LRRFIP1		inserm.fr	GRCh37	2	238536315	238536315	+	downstream_gene_variant	3'Flank	SNP	C	A	A			CHC1741T																								ENST00000417947				0	validated			
E2F2		inserm.fr	GRCh37	1	23857055	23857055	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000361729.2:c.231C>T	p.Cys77=	p.C77=	ENST00000361729	NM_004091.3	77	tgC/tgT	0	not done		synonymous	
LRRFIP1		inserm.fr	GRCh37	2	238671532	238671532	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000392000.4:c.1176G>A	p.Glu392=	p.E392=	ENST00000392000	NM_001137552.1	392	gaG/gaA	0	not done		synonymous	
RBM44		inserm.fr	GRCh37	2	238728966	238728966	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2351T																					ENST00000316997.4:c.1888G>A	p.Val630Ile	p.V630I	ENST00000316997	NM_001080504.2	630	Gtc/Atc	0	not done		benign	
MYH6		inserm.fr	GRCh37	14	23876383	23876383	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000405093.3:c.50G>T	p.Arg17Leu	p.R17L	ENST00000405093	NM_002471.3	17	cGc/cTc	0	not done		possiblydamaging	
MAGEL2		inserm.fr	GRCh37	15	23891933	23891933	+	upstream_gene_variant	5'Flank	SNP	C	A	A			CHC902T																								ENST00000314233				0	not done			
MAGEL2		inserm.fr	GRCh37	15	23892201	23892201	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC892T																								ENST00000314233				0	not done			
MAGEL2		inserm.fr	GRCh37	15	23892573	23892573	+	upstream_gene_variant	5'Flank	SNP	C	A	A			BCM399T																								ENST00000314233				0	validated			
ESPNL		inserm.fr	GRCh37	2	239037443	239037443	+	synonymous_variant	Silent	SNP	C	A	A			CHC322T																					ENST00000343063.3:c.1311C>A	p.Pro437=	p.P437=	ENST00000343063	NM_194312.2	437	ccC/ccA	0	validated		synonymous	
ESPNL		inserm.fr	GRCh37	2	239037460	239037460	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2352T																					ENST00000343063.3:c.1328G>A	p.Gly443Asp	p.G443D	ENST00000343063	NM_194312.2	443	gGc/gAc	0	not done		probablydamaging	
KLHL30		inserm.fr	GRCh37	2	239049460	239049460	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM543T																					ENST00000409223.1:c.65G>A	p.Gly22Asp	p.G22D	ENST00000409223		22	gGc/gAc	0	validated		probablydamaging	
KLHL30		inserm.fr	GRCh37	2	239054394	239054394	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000409223.1:c.1071G>A	p.Trp357Ter	p.W357*	ENST00000409223		357	tgG/tgA	0	not done		damaging	
FAM132B		inserm.fr	GRCh37	2	239070311	239070311	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000546354.1:c.275G>A	p.Gly92Asp	p.G92D	ENST00000546354		92	gGt/gAt	0	not done			
FAM132B		inserm.fr	GRCh37	2	239072406	239072406	+	synonymous_variant	Silent	SNP	G	A	A			CHC1720T																					ENST00000546354.1:c.453G>A	p.Glu151=	p.E151=	ENST00000546354		151	gaG/gaA	0	not done		synonymous	
FAM132B		inserm.fr	GRCh37	2	239076151	239076151	+	downstream_gene_variant	3'Flank	SNP	C	A	A			CHC1751T																								ENST00000254654	NM_030768.2			0	not done			
SACS		inserm.fr	GRCh37	13	23910541	23910541	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2200T																					ENST00000382298.3:c.7474G>T	p.Val2492Leu	p.V2492L	ENST00000382298	NM_014363.5	2492	Gta/Tta	0	not done		probablydamaging	
SACS		inserm.fr	GRCh37	13	23910542	23910542	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2200T																					ENST00000382298.3:c.7473A>T	p.Glu2491Asp	p.E2491D	ENST00000382298	NM_014363.5	2491	gaA/gaT	0	not done		possiblydamaging	
LOC151174		inserm.fr	GRCh37	2	239133833	239133833	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000409070.1:c.442C>T	p.Gln148Ter	p.Q148*	ENST00000409070		148	Caa/Taa	0	not done		damaging	
SACS		inserm.fr	GRCh37	13	23914892	23914892	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1040T																					ENST00000382298.3:c.3123G>T	p.Gln1041His	p.Q1041H	ENST00000382298	NM_014363.5	1041	caG/caT	0	not done		benign	
PER2		inserm.fr	GRCh37	2	239157727	239157727	+	synonymous_variant	Silent	SNP	G	A	A			CHC2128T																					ENST00000254657.3:c.3594C>T	p.Gly1198=	p.G1198=	ENST00000254657	NM_022817.2	1198	ggC/ggT	0	not done		synonymous	
SACS		inserm.fr	GRCh37	13	23929173	23929173	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2200T																					ENST00000382298.3:c.1578G>T	p.Leu526Phe	p.L526F	ENST00000382298	NM_014363.5	526	ttG/ttT	0	not done		benign	
TRAF3IP1		inserm.fr	GRCh37	2	239306144	239306144	+	synonymous_variant	Silent	SNP	C	A	A			CHC1207T																					ENST00000373327.4:c.1734C>A	p.Ile578=	p.I578=	ENST00000373327	NM_015650.3	578	atC/atA	0	not done		synonymous	
NDN		inserm.fr	GRCh37	15	23931759	23931759	+	synonymous_variant	Silent	SNP	G	A	A			CHC1566T																					ENST00000331837.4:c.606C>T	p.Gly202=	p.G202=	ENST00000331837	NM_002487.2	202	ggC/ggT	0	not done		synonymous	
NDN		inserm.fr	GRCh37	15	23931926	23931926	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC912T																					ENST00000331837.4:c.439C>T	p.Leu147Phe	p.L147F	ENST00000331837	NM_002487.2	147	Ctc/Ttc	0	validated		probablydamaging	
NDN		inserm.fr	GRCh37	15	23932313	23932313	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000331837.4:c.52C>T	p.Pro18Ser	p.P18S	ENST00000331837	NM_002487.2	18	Ccc/Tcc	0	not done		benign	
MDS2		inserm.fr	GRCh37	1	23966966	23966966	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000374555.3:c.350G>A	p.Gly117Glu	p.G117E	ENST00000374555		117	gGg/gAg	0	not done			
C5orf17		inserm.fr	GRCh37	5	23977938	23977938	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000512559.1:c.343G>A	p.Gly115Arg	p.G115R	ENST00000512559		115	Gga/Aga	0	not done			
HDAC4		inserm.fr	GRCh37	2	239988477	239988477	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1738T																					ENST00000345617.3:c.2929G>T	p.Asp977Tyr	p.D977Y	ENST00000345617	NM_006037.3	977	Gac/Tac	0	not done		probablydamaging	
NR1D2		inserm.fr	GRCh37	3	24001282	24001282	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM671T																					ENST00000312521.4:c.493C>A	p.Leu165Met	p.L165M	ENST00000312521	NM_005126.4	165	Ctg/Atg	0	validated		probablydamaging	
HDAC4		inserm.fr	GRCh37	2	240056116	240056116	+	synonymous_variant	Silent	SNP	G	A	A			BCM399T																					ENST00000345617.3:c.1119C>T	p.Ala373=	p.A373=	ENST00000345617	NM_006037.3	373	gcC/gcT	0	validated		synonymous	
KLHL15		inserm.fr	GRCh37	X	24006591	24006591	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000328046.8:c.1262G>T	p.Gly421Val	p.G421V	ENST00000328046	NM_030624.2	421	gGg/gTg	0	not done		possiblydamaging	
CHRM3		inserm.fr	GRCh37	1	240071561	240071561	+	synonymous_variant	Silent	SNP	C	A	A			CHC879T																					ENST00000255380.4:c.810C>A	p.Ala270=	p.A270=	ENST00000255380	NM_000740.2	270	gcC/gcA	0	not done		synonymous	
KLHL15		inserm.fr	GRCh37	X	24024488	24024488	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000328046.8:c.323C>T	p.Ala108Val	p.A108V	ENST00000328046	NM_030624.2	108	gCc/gTc	0	validated		probablydamaging	
THTPA		inserm.fr	GRCh37	14	24026505	24026505	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000288014.6:c.539G>A	p.Ser180Asn	p.S180N	ENST00000288014		180	aGc/aAc	0	not done		benign	
AP1G2		inserm.fr	GRCh37	14	24029227	24029227	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1598T																					ENST00000308724.5:c.2176C>T	p.Gln726Ter	p.Q726*	ENST00000308724	NM_003917.2	726	Cag/Tag	0	not done		damaging	
AP1G2		inserm.fr	GRCh37	14	24031178	24031178	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000308724.5:c.1726C>T	p.His576Tyr	p.H576Y	ENST00000308724	NM_003917.2	576	Cac/Tac	0	not done		probablydamaging	
AP1G2		inserm.fr	GRCh37	14	24035594	24035594	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000308724.5:c.364C>T	p.Leu122=	p.L122=	ENST00000308724	NM_003917.2	122	Ctg/Ttg	0	not done		synonymous	
FMN2		inserm.fr	GRCh37	1	240370783	240370783	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB167T																					ENST00000319653.9:c.2671C>A	p.Leu891Met	p.L891M	ENST00000319653	NM_020066.4	891	Ctg/Atg	0	validated		probablydamaging	
JPH4		inserm.fr	GRCh37	14	24046306	24046306	+	synonymous_variant	Silent	SNP	G	A	A			CHC1744T																					ENST00000397118.3:c.357C>T	p.Gly119=	p.G119=	ENST00000397118	NM_032452.2	119	ggC/ggT	0	not done		synonymous	
NDUFA10		inserm.fr	GRCh37	2	240954236	240954236	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1205T																					ENST00000252711.2:c.589G>T	p.Asp197Tyr	p.D197Y	ENST00000252711	NM_004544.3	197	Gat/Tat	0	not done		probablydamaging	
OR6B2		inserm.fr	GRCh37	2	240969380	240969380	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000402971.2:c.467C>T	p.Ser156Phe	p.S156F	ENST00000402971	NM_001005853.1	156	tCc/tTc	0	not done		probablydamaging	
CHCHD10		inserm.fr	GRCh37	22	24108421	24108421	+	synonymous_variant	Silent	SNP	G	A	A			CHC433T																					ENST00000484558.2:c.303C>T	p.Pro101=	p.P101=	ENST00000484558		101	ccC/ccT	0	validated		synonymous	
CHCHD10		inserm.fr	GRCh37	22	24109626	24109626	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000484558.2:c.196G>T	p.Gly66Cys	p.G66C	ENST00000484558		66	Ggc/Tgc	0	validated		probablydamaging	
TGM6		inserm.fr	GRCh37	20	2411647	2411647	+	synonymous_variant	Silent	SNP	C	A	A			CHC1211T																					ENST00000202625.2:c.1941C>A	p.Gly647=	p.G647=	ENST00000202625	NM_198994.2	647	ggC/ggA	0	not done		synonymous	
ZNF726		inserm.fr	GRCh37	19	24118030	24118030	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC1611T																					ENST00000596594.1:n.9G>A		*3*	ENST00000596594				0	not done		synonymous	
PRKCB		inserm.fr	GRCh37	16	24135258	24135258	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC614T									Valid												ENST00000303531.7:c.1021G>A	p.Asp341Asn	p.D341N	ENST00000303531	NM_002738.6	341	Gat/Aat	0	validated		probablydamaging	
GPC1		inserm.fr	GRCh37	2	241375351	241375351	+	synonymous_variant	Silent	SNP	C	A	A			BCB109T																					ENST00000264039.2:c.16C>A	p.Arg6=	p.R6=	ENST00000264039	NM_002081.2	6	Cga/Aga	0	validated		synonymous	
ANKMY1		inserm.fr	GRCh37	2	241439476	241439476	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000391987.1:c.2438C>T	p.Ala813Val	p.A813V	ENST00000391987		813	gCg/gTg	0	validated		benign	
ANKMY1		inserm.fr	GRCh37	2	241465219	241465219	+	synonymous_variant	Silent	SNP	G	A	A			CHC1545T																					ENST00000391987.1:c.951C>T	p.Ala317=	p.A317=	ENST00000391987		317	gcC/gcT	0	not done		synonymous	
CAPN10		inserm.fr	GRCh37	2	241528861	241528861	+	synonymous_variant	Silent	SNP	G	A	A			CHC1744T																					ENST00000391984.2:c.243G>A	p.Ala81=	p.A81=	ENST00000391984	NM_023083.3	81	gcG/gcA	0	not done		synonymous	
CAPN10		inserm.fr	GRCh37	2	241535922	241535922	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000391984.2:c.1465G>A	p.Gly489Arg	p.G489R	ENST00000391984	NM_023083.3	489	Ggg/Agg	0	not done		probablydamaging	
AQP12B		inserm.fr	GRCh37	2	241621952	241621952	+	synonymous_variant	Silent	SNP	G	A	A			CHC2103T																					ENST00000407834.3:c.303C>T	p.Phe101=	p.F101=	ENST00000407834	NM_001102467.1	101	ttC/ttT	0	not done		synonymous	
AQP12A		inserm.fr	GRCh37	2	241631447	241631447	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000337801.4:c.117G>A	p.Arg39=	p.R39=	ENST00000337801	NM_198998.2	39	cgG/cgA	0	not done		synonymous	
CHML		inserm.fr	GRCh37	1	241798966	241798966	+	synonymous_variant	Silent	SNP	G	A	A			CHC912T																					ENST00000366553.1:c.103C>T	p.Leu35=	p.L35=	ENST00000366553	NM_001821.3	35	Ctg/Ttg	0	validated		synonymous	
C2orf54		inserm.fr	GRCh37	2	241829511	241829511	+	synonymous_variant	Silent	SNP	G	A	A			CHC1751T																					ENST00000388934.4:c.805C>T	p.Leu269=	p.L269=	ENST00000388934	NM_001085437.1	269	Ctg/Ttg	0	not done		synonymous	
ADAM28		inserm.fr	GRCh37	8	24190193	24190193	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC805T																					ENST00000265769.4:c.1302T>A	p.Cys434Ter	p.C434*	ENST00000265769	NM_014265.4	434	tgT/tgA	0	not done		damaging	
WDR64		inserm.fr	GRCh37	1	241951244	241951244	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC703T																					ENST00000366552.2:c.2769T>A	p.Cys923Ter	p.C923*	ENST00000366552	NM_144625.4	923	tgT/tgA	0	validated		damaging	
WDR64		inserm.fr	GRCh37	1	241953930	241953930	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB167T																					ENST00000366552.2:c.2899C>A	p.Arg967Ser	p.R967S	ENST00000366552	NM_144625.4	967	Cgc/Agc	0	validated		possiblydamaging	
PRKCB		inserm.fr	GRCh37	16	24196832	24196832	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC892T																					ENST00000303531.7:c.1666C>A	p.His556Asn	p.H556N	ENST00000303531	NM_002738.6	556	Cac/Aac	0	not done		benign	
SNED1		inserm.fr	GRCh37	2	241976744	241976744	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000310397.8:c.1019G>A	p.Gly340Asp	p.G340D	ENST00000310397	NM_001080437.1	340	gGc/gAc	0	not done		possiblydamaging	
PRKCB		inserm.fr	GRCh37	16	24231434	24231434	+	3_prime_UTR_variant	3'UTR	SNP	G	A	A			CHC155T																					ENST00000303531.7:c.*5297G>A		*1766*	ENST00000303531	NM_002738.6			0	validated		synonymous	
ADAMDEC1		inserm.fr	GRCh37	8	24254813	24254813	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC2141T																					ENST00000256412.4:c.471C>A	p.Tyr157Ter	p.Y157*	ENST00000256412	NM_014479.3	157	taC/taA	0	not done		damaging	
ADAMDEC1		inserm.fr	GRCh37	8	24254905	24254905	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000256412.4:c.563G>A	p.Gly188Asp	p.G188D	ENST00000256412	NM_014479.3	188	gGt/gAt	0	not done		probablydamaging	
TRPM5		inserm.fr	GRCh37	11	2427899	2427899	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000155858.6:c.3243C>T	p.Thr1081=	p.T1081=	ENST00000155858	NM_014555.3	1081	acC/acT	0	validated		synonymous	
SRSF10		inserm.fr	GRCh37	1	24298080	24298080	+	synonymous_variant	Silent	SNP	G	A	A			CHC304T																					ENST00000492112.2:c.474C>T	p.Ser158=	p.S158=	ENST00000492112		158	agC/agT	0	validated		synonymous	
SRSF10		inserm.fr	GRCh37	1	24306731	24306731	+	synonymous_variant	Silent	SNP	C	A	A			CHC320T																					ENST00000492112.2:c.15G>T	p.Leu5=	p.L5=	ENST00000492112		5	ctG/ctT	0	validated		synonymous	
FAM48B2		inserm.fr	GRCh37	X	24329597	24329597	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000536351.1:n.1836C>T		*612*	ENST00000536351				0	not done		synonymous	
FAM48B2		inserm.fr	GRCh37	X	24329642	24329642	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000536351.1:n.1791C>T		*597*	ENST00000536351				0	not done		synonymous	
FAM48B2		inserm.fr	GRCh37	X	24331429	24331429	+	non_coding_transcript_exon_variant	RNA	SNP	C	A	A			CHC051T									Valid												ENST00000536351.1:n.4G>T		*2*	ENST00000536351				0	validated		probablydamaging	
TRPM5		inserm.fr	GRCh37	11	2433394	2433394	+	synonymous_variant	Silent	SNP	G	A	A			CHC1746T																					ENST00000155858.6:c.2445C>T	p.Ile815=	p.I815=	ENST00000155858	NM_014555.3	815	atC/atT	0	not done		synonymous	
FAM48B1		inserm.fr	GRCh37	X	24381819	24381819	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000436466.1:n.942G>A		*314*	ENST00000436466				0	not done		synonymous	
DHRS4		inserm.fr	GRCh37	14	24424411	24424411	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1741T																					ENST00000313250.5:c.296T>A	p.Leu99Gln	p.L99Q	ENST00000313250	NM_021004.2	99	cTg/cAg	0	not done		probablydamaging	
CABIN1		inserm.fr	GRCh37	22	24437614	24437614	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1085T																					ENST00000398319.2:c.238G>A	p.Gly80Arg	p.G80R	ENST00000398319	NM_001199281.1	80	Ggg/Agg	0	validated		possiblydamaging	
AQP4		inserm.fr	GRCh37	18	24442400	24442400	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1595T																					ENST00000383168.4:c.193C>T	p.Pro65Ser	p.P65S	ENST00000383168	NM_001650.4	65	Cct/Tct	0	validated		benign	
TRPM5		inserm.fr	GRCh37	11	2444263	2444263	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1183T																					ENST00000155858.6:c.4C>T	p.Gln2Ter	p.Q2*	ENST00000155858	NM_014555.3	2	Cag/Tag	0	not done		damaging	
LMNB2		inserm.fr	GRCh37	19	2444456	2444456	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000325327.3:c.347G>T	p.Arg116Leu	p.R116L	ENST00000325327		116	cGg/cTg	0	not done		probablydamaging	
ADSS		inserm.fr	GRCh37	1	244583561	244583561	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1035T																					ENST00000366535.3:c.701G>T	p.Gly234Val	p.G234V	ENST00000366535	NM_001126.3	234	gGa/gTa	0	validated		possiblydamaging	
ADSS		inserm.fr	GRCh37	1	244601011	244601011	+	synonymous_variant	Silent	SNP	G	A	A			CHC1736T																					ENST00000366535.3:c.243C>T	p.Leu81=	p.L81=	ENST00000366535	NM_001126.3	81	ctC/ctT	0	not done		synonymous	
CDH10		inserm.fr	GRCh37	5	24498581	24498581	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1742T																					ENST00000264463.4:c.1441G>T	p.Asp481Tyr	p.D481Y	ENST00000264463	NM_006727.3	481	Gat/Tat	0	not done		probablydamaging	
ITSN2		inserm.fr	GRCh37	2	24507631	24507631	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC1731T																					ENST00000355123.4:c.1944+1G>T		p.X648_splice	ENST00000355123	NM_006277.2			0	not done		possiblydamaging	
CABIN1		inserm.fr	GRCh37	22	24515520	24515520	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000398319.2:c.4487G>A	p.Gly1496Glu	p.G1496E	ENST00000398319	NM_001199281.1	1496	gGg/gAg	0	not done		possiblydamaging	
ALDH5A1		inserm.fr	GRCh37	6	24520759	24520759	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000348925.2:c.1040G>A	p.Arg347Lys	p.R347K	ENST00000348925	NM_170740.1	347	aGg/aAg	0	not done		probablydamaging	
PANK4		inserm.fr	GRCh37	1	2452275	2452275	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000378466.3:c.493G>T	p.Glu165Ter	p.E165*	ENST00000378466	NM_018216.1	165	Gag/Tag	0	not done		damaging	
SYNDIG1		inserm.fr	GRCh37	20	24523788	24523788	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC798T																					ENST00000376862.3:c.55G>A	p.Ala19Thr	p.A19T	ENST00000376862	NM_024893.2	19	Gct/Act	0	validated		benign	
LRRC16B		inserm.fr	GRCh37	14	24527053	24527053	+	synonymous_variant	Silent	SNP	C	A	A			CHC614T																					ENST00000342740.5:c.1182C>A	p.Thr394=	p.T394=	ENST00000342740	NM_138360.3	394	acC/acA	0	validated		synonymous	
KIF26B		inserm.fr	GRCh37	1	245319809	245319809	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2043T																					ENST00000407071.2:c.289C>A	p.Pro97Thr	p.P97T	ENST00000407071	NM_018012.3	97	Ccg/Acg	0	validated		probablydamaging	
CDH10		inserm.fr	GRCh37	5	24535222	24535222	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC433T									Valid												ENST00000264463.4:c.813G>T	p.Gln271His	p.Q271H	ENST00000264463	NM_006727.3	271	caG/caT	0	validated		damaging	
ITSN2		inserm.fr	GRCh37	2	24535244	24535244	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC909T																					ENST00000355123.4:c.189G>T	p.Trp63Cys	p.W63C	ENST00000355123	NM_006277.2	63	tgG/tgT	0	not done		probablydamaging	
LRRC16B		inserm.fr	GRCh37	14	24538053	24538053	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1055T																					ENST00000342740.5:c.3860G>A	p.Arg1287His	p.R1287H	ENST00000342740	NM_138360.3	1287	cGc/cAc	0	validated		possiblydamaging	
CPNE6		inserm.fr	GRCh37	14	24545427	24545427	+	synonymous_variant	Silent	SNP	C	A	A			CHC1201T																					ENST00000397016.2:c.994C>A	p.Arg332=	p.R332=	ENST00000397016	NM_001280558.1	332	Cga/Aga	0	validated		synonymous	
CPNE6		inserm.fr	GRCh37	14	24546576	24546576	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC121T									Valid												ENST00000397016.2:c.1513G>A	p.Val505Met	p.V505M	ENST00000397016	NM_001280558.1	505	Gtg/Atg	0	validated		probablydamaging	
KIF26B		inserm.fr	GRCh37	1	245583027	245583027	+	synonymous_variant	Silent	SNP	G	A	A			CHC432T																					ENST00000407071.2:c.1146G>A	p.Val382=	p.V382=	ENST00000407071	NM_018012.3	382	gtG/gtA	0	not done		synonymous	
KIAA0319		inserm.fr	GRCh37	6	24559298	24559298	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1708T																					ENST00000378214.3:c.2677C>T	p.Leu893Phe	p.L893F	ENST00000378214	NM_014809.3	893	Ctc/Ttc	0	validated		probablydamaging	
RBBP6		inserm.fr	GRCh37	16	24564837	24564837	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1137T																					ENST00000319715.4:c.307G>A	p.Asp103Asn	p.D103N	ENST00000319715	NM_006910.4	103	Gat/Aat	0	not done		probablydamaging	
CABIN1		inserm.fr	GRCh37	22	24572220	24572220	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000398319.2:c.6182G>A	p.Gly2061Asp	p.G2061D	ENST00000398319	NM_001199281.1	2061	gGc/gAc	0	not done		benign	
PCK2		inserm.fr	GRCh37	14	24573044	24573044	+	synonymous_variant	Silent	SNP	C	A	A			BCM735T																					ENST00000216780.4:c.1794C>A	p.Leu598=	p.L598=	ENST00000216780	NM_004563.2	598	ctC/ctA	0	validated		synonymous	
KIAA0319		inserm.fr	GRCh37	6	24576704	24576704	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000378214.3:c.1626C>T	p.Pro542=	p.P542=	ENST00000378214	NM_014809.3	542	ccC/ccT	0	not done		synonymous	
KIF26B		inserm.fr	GRCh37	1	245772678	245772678	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC432T																					ENST00000407071.2:c.1762G>A	p.Gly588Ser	p.G588S	ENST00000407071	NM_018012.3	588	Ggc/Agc	0	not done		probablydamaging	
KIF26B		inserm.fr	GRCh37	1	245775118	245775118	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000407071.2:c.1938G>A	p.Arg646=	p.R646=	ENST00000407071	NM_018012.3	646	cgG/cgA	0	not done		synonymous	
SUSD2		inserm.fr	GRCh37	22	24581475	24581475	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1210T																					ENST00000358321.3:c.1006G>A	p.Glu336Lys	p.E336K	ENST00000358321	NM_019601.3	336	Gag/Aag	0	validated		probablydamaging	
KIF26B		inserm.fr	GRCh37	1	245848903	245848903	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC884T																					ENST00000407071.2:c.2618C>A	p.Thr873Lys	p.T873K	ENST00000407071	NM_018012.3	873	aCg/aAg	0	validated		probablydamaging	
KIF26B		inserm.fr	GRCh37	1	245851880	245851880	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2141T																					ENST00000407071.2:c.5595C>A	p.Ser1865Arg	p.S1865R	ENST00000407071	NM_018012.3	1865	agC/agA	0	not done		probablydamaging	
KIF26B		inserm.fr	GRCh37	1	245852101	245852101	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC432T																					ENST00000407071.2:c.5816C>A	p.Ser1939Tyr	p.S1939Y	ENST00000407071	NM_018012.3	1939	tCc/tAc	0	not done		possiblydamaging	
KIF26B		inserm.fr	GRCh37	1	245861458	245861458	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM325T																					ENST00000407071.2:c.5875C>A	p.Pro1959Thr	p.P1959T	ENST00000407071	NM_018012.3	1959	Cct/Act	0	validated		probablydamaging	
KIF26B		inserm.fr	GRCh37	1	245865901	245865901	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM695T																					ENST00000407071.2:c.6320G>A	p.Arg2107His	p.R2107H	ENST00000407071	NM_018012.3	2107	cGc/cAc	0	validated		probablydamaging	
DCAF11		inserm.fr	GRCh37	14	24586887	24586887	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000446197.3:c.422G>A	p.Gly141Asp	p.G141D	ENST00000446197	NM_025230.4	141	gGc/gAc	0	not done		probablydamaging	
FITM1		inserm.fr	GRCh37	14	24600907	24600907	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000267426.5:c.135C>A	p.Arg45=	p.R45=	ENST00000267426	NM_203402.2	45	cgC/cgA	0	not done		synonymous	
SMYD3		inserm.fr	GRCh37	1	246078866	246078866	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC891T																					ENST00000388985.4:c.779A>T	p.Glu260Val	p.E260V	ENST00000388985		260	gAa/gTa	0	not done		possiblydamaging	
GGT5		inserm.fr	GRCh37	22	24628898	24628898	+	synonymous_variant	Silent	SNP	G	A	A			CHC1154T																					ENST00000398292.3:c.489C>T	p.Phe163=	p.F163=	ENST00000398292		163	ttC/ttT	0	not done		synonymous	
IPO4		inserm.fr	GRCh37	14	24655534	24655534	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1720T																					ENST00000354464.6:c.964A>T	p.Ile322Phe	p.I322F	ENST00000354464	NM_024658.3	322	Att/Ttt	0	not done		benign	
GRHL3		inserm.fr	GRCh37	1	24663076	24663076	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1531T																					ENST00000350501.5:c.371C>A	p.Pro124Gln	p.P124Q	ENST00000350501	NM_198174.2	124	cCa/cAa	0	not done		benign	
STPG1		inserm.fr	GRCh37	1	24685072	24685072	+	synonymous_variant	Silent	SNP	G	A	A			CHC1207T																					ENST00000374409.1:c.966C>T	p.Phe322=	p.F322=	ENST00000374409	NM_001199012.1	322	ttC/ttT	0	not done		synonymous	
AHCTF1		inserm.fr	GRCh37	1	247070852	247070852	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC433T									Valid												ENST00000326225.3:c.791+1G>T		p.X264_splice	ENST00000326225	NM_015446.4			0	validated		damaging	
TINF2		inserm.fr	GRCh37	14	24709512	24709512	+	synonymous_variant	Silent	SNP	G	A	A			CHC1594T																					ENST00000267415.7:c.1086C>T	p.Asp362=	p.D362=	ENST00000267415	NM_001099274.1	362	gaC/gaT	0	not done		synonymous	
ZNF669		inserm.fr	GRCh37	1	247265067	247265067	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1741T																					ENST00000343381.6:c.415G>T	p.Glu139Ter	p.E139*	ENST00000343381	NM_024804.2	139	Gaa/Taa	0	not done		damaging	
ZNF124		inserm.fr	GRCh37	1	247320278	247320278	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1152T																					ENST00000340684.6:c.460C>T	p.Arg154Cys	p.R154C	ENST00000340684	NM_003431.2	154	Cgt/Tgt	0	not done		probablydamaging	
CHST12		inserm.fr	GRCh37	7	2473469	2473469	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000258711.6:c.1195G>A	p.Asp399Asn	p.D399N	ENST00000258711	NM_001243794.1	399	Gac/Aac	0	not done		probablydamaging	
RABGGTA		inserm.fr	GRCh37	14	24738724	24738724	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1747T																					ENST00000399409.3:c.604C>T	p.Arg202Cys	p.R202C	ENST00000399409	NM_004581.5	202	Cgc/Tgc	0	not done		probablydamaging	
POLA1		inserm.fr	GRCh37	X	24746002	24746002	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000379059.3:c.1617G>A	p.Val539=	p.V539=	ENST00000379059	NM_016937.3	539	gtG/gtA	0	not done		synonymous	
NLRP3		inserm.fr	GRCh37	1	247587260	247587260	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000336119.3:c.515G>A	p.Arg172His	p.R172H	ENST00000336119	NM_001127462.2	172	cGt/cAt	0	validated		possiblydamaging	
NLRP3		inserm.fr	GRCh37	1	247588056	247588056	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000336119.3:c.1311G>A	p.Lys437=	p.K437=	ENST00000336119	NM_001127462.2	437	aaG/aaA	0	not done		synonymous	
SPECC1L		inserm.fr	GRCh37	22	24765232	24765232	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2208T																					ENST00000314328.9:c.3031G>A	p.Gly1011Arg	p.G1011R	ENST00000314328	NM_015330.4	1011	Gga/Aga	0	not done		probablydamaging	
OR2W5		inserm.fr	GRCh37	1	247654544	247654544	+	non_coding_transcript_exon_variant	RNA	SNP	C	A	A			CHC1736T																					ENST00000530852.2:n.175C>A		*59*	ENST00000530852				0	not done		probablydamaging	
OR2W5		inserm.fr	GRCh37	1	247654702	247654702	+	non_coding_transcript_exon_variant	RNA	SNP	C	A	A			CHC155T																					ENST00000530852.2:n.333C>A		*111*	ENST00000530852				0	validated		synonymous	
NEFM		inserm.fr	GRCh37	8	24774823	24774823	+	synonymous_variant	Silent	SNP	G	A	A			CHC361TA																					ENST00000221166.5:c.1455G>A	p.Lys485=	p.K485=	ENST00000221166		485	aaG/aaA	0	validated		synonymous	
CIDEB		inserm.fr	GRCh37	14	24774901	24774901	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM325T																					ENST00000336557.5:c.598C>T	p.Leu200Phe	p.L200F	ENST00000336557		200	Ctt/Ttt	0	validated		possiblydamaging	
OR2G2		inserm.fr	GRCh37	1	247752149	247752149	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000320065.1:c.488C>A	p.Ser163Tyr	p.S163Y	ENST00000320065	NM_001001915.1	163	tCc/tAc	0	not done		probablydamaging	
OR2G2		inserm.fr	GRCh37	1	247752233	247752233	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000320065.1:c.572C>A	p.Ala191Asp	p.A191D	ENST00000320065	NM_001001915.1	191	gCt/gAt	0	not done		probablydamaging	
OR2G2		inserm.fr	GRCh37	1	247752592	247752592	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000320065.1:c.931G>A	p.Ala311Thr	p.A311T	ENST00000320065	NM_001001915.1	311	Gct/Act	0	not done		benign	
NEFM		inserm.fr	GRCh37	8	24775755	24775755	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000221166.5:c.2387G>A	p.Arg796Lys	p.R796K	ENST00000221166		796	aGg/aAg	0	not done		benign	
OR2G3		inserm.fr	GRCh37	1	247769016	247769016	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM339T																					ENST00000320002.2:c.129C>A	p.Phe43Leu	p.F43L	ENST00000320002	NM_001001914.1	43	ttC/ttA	0	validated		benign	
LTB4R		inserm.fr	GRCh37	14	24785412	24785412	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000396789.4:c.555G>A	p.Glu185=	p.E185=	ENST00000396789	NM_181657.3	185	gaG/gaA	0	not done		synonymous	
OR6F1		inserm.fr	GRCh37	1	247875812	247875812	+	synonymous_variant	Silent	SNP	C	A	A			CHC2351T																					ENST00000302084.2:c.246G>T	p.Leu82=	p.L82=	ENST00000302084	NM_001005286.1	82	ctG/ctT	0	not done		synonymous	
OR14K1		inserm.fr	GRCh37	1	247902363	247902363	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000283225.2:c.447C>A	p.Asn149Lys	p.N149K	ENST00000283225		149	aaC/aaA	0	not done			
SPATA13		inserm.fr	GRCh37	13	24797699	24797699	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	A	A			CHC2351T																					ENST00000382141.4:c.632G>A	p.Arg211His	p.R211H	ENST00000382141		211	cGc/cAc	0	not done			
OR14A16		inserm.fr	GRCh37	1	247978120	247978120	+	synonymous_variant	Silent	SNP	T	A	A			CHC884T																					ENST00000357627.1:c.912A>T	p.Gly304=	p.G304=	ENST00000357627	NM_001001966.1	304	ggA/ggT	0	validated		synonymous	
OR14A16		inserm.fr	GRCh37	1	247978121	247978121	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC884T																					ENST00000357627.1:c.911G>T	p.Gly304Val	p.G304V	ENST00000357627	NM_001001966.1	304	gGa/gTa	0	validated		benign	
TNRC6A		inserm.fr	GRCh37	16	24800854	24800854	+	synonymous_variant	Silent	SNP	T	A	A			CHC614T																					ENST00000395799.3:c.891T>A	p.Val297=	p.V297=	ENST00000395799	NM_014494.2	297	gtT/gtA	0	validated		synonymous	
TRIM58		inserm.fr	GRCh37	1	248020625	248020625	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1602T																					ENST00000366481.3:c.77C>A	p.Pro26Gln	p.P26Q	ENST00000366481	NM_015431.3	26	cCg/cAg	0	not done		probablydamaging	
KIAA1217		inserm.fr	GRCh37	10	24802350	24802350	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000376454.3:c.2164G>A	p.Val722Ile	p.V722I	ENST00000376454	NM_019590.3	722	Gtc/Atc	0	not done		benign	
TNRC6A		inserm.fr	GRCh37	16	24802724	24802724	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000395799.3:c.2761G>A	p.Gly921Arg	p.G921R	ENST00000395799	NM_014494.2	921	Gga/Aga	0	not done		probablydamaging	
OR2W3		inserm.fr	GRCh37	1	248059112	248059112	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC303T									Valid												ENST00000537741.1:c.224C>A	p.Thr75Asn	p.T75N	ENST00000537741		75	aCc/aAc	0	validated		possiblydamaging	
TNRC6A		inserm.fr	GRCh37	16	24809278	24809278	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1746T																					ENST00000395799.3:c.3685C>A	p.Leu1229Ile	p.L1229I	ENST00000395799	NM_014494.2	1229	Ctt/Att	0	not done		benign	
OR2L8		inserm.fr	GRCh37	1	248112428	248112428	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1207T																					ENST00000357191.3:c.269C>A	p.Ser90Tyr	p.S90Y	ENST00000357191	NM_001001963.1	90	tCt/tAt	0	not done		benign	
OR2AK2		inserm.fr	GRCh37	1	248129015	248129015	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1736T																					ENST00000366480.3:c.382C>A	p.Leu128Ile	p.L128I	ENST00000366480	NM_001004491.1	128	Ctt/Att	0	not done		probablydamaging	
NEFL		inserm.fr	GRCh37	8	24813005	24813005	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000221169.5:n.1620C>T		*540*	ENST00000221169				0	not done		possiblydamaging	
NEFL		inserm.fr	GRCh37	8	24813868	24813868	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000221169.5:n.757C>T		*253*	ENST00000221169				0	not done		synonymous	
NEFL		inserm.fr	GRCh37	8	24813984	24813984	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000221169.5:n.641C>T		*214*	ENST00000221169				0	not done		probablydamaging	
FAM65B		inserm.fr	GRCh37	6	24818852	24818852	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1717T																					ENST00000259698.4:c.2933C>T	p.Ala978Val	p.A978V	ENST00000259698	NM_014722.2	978	gCc/gTc	0	not done		probablydamaging	
OR2L2		inserm.fr	GRCh37	1	248202372	248202372	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2111T																					ENST00000366479.2:c.803C>A	p.Thr268Lys	p.T268K	ENST00000366479	NM_001004686.2	268	aCa/aAa	0	not done		benign	
FAM65B		inserm.fr	GRCh37	6	24830820	24830820	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM257T																					ENST00000259698.4:c.2486G>T	p.Ser829Ile	p.S829I	ENST00000259698	NM_014722.2	829	aGc/aTc	0	validated		possiblydamaging	
OR2M5		inserm.fr	GRCh37	1	248308523	248308523	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1569T																					ENST00000366476.1:c.74C>A	p.Thr25Asn	p.T25N	ENST00000366476	NM_001004690.1	25	aCc/aAc	0	not done		probablydamaging	
KIAA1217		inserm.fr	GRCh37	10	24834019	24834019	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC923T																					ENST00000376454.3:c.5321G>A	p.Arg1774His	p.R1774H	ENST00000376454	NM_019590.3	1774	cGc/cAc	0	not done		probablydamaging	
OR2M2		inserm.fr	GRCh37	1	248343802	248343802	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1743T																					ENST00000359682.2:c.515G>A	p.Arg172Gln	p.R172Q	ENST00000359682	NM_001004688.1	172	cGg/cAg	0	not done		possiblydamaging	
IQSEC3		inserm.fr	GRCh37	12	248372	248372	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1148T																					ENST00000538872.1:c.1843G>A	p.Ala615Thr	p.A615T	ENST00000538872		615	Gcc/Acc	0	not done		probablydamaging	
NFATC4		inserm.fr	GRCh37	14	24839087	24839087	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000413692.2:c.672G>A	p.Gln224=	p.Q224=	ENST00000413692	NM_001198967.1	224	caG/caA	0	not done		synonymous	
NFATC4		inserm.fr	GRCh37	14	24843538	24843538	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC155T									Valid												ENST00000413692.2:c.1928G>A	p.Arg643His	p.R643H	ENST00000413692	NM_001198967.1	643	cGc/cAc	0	validated		probablydamaging	
OR2T33		inserm.fr	GRCh37	1	248436161	248436161	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1742T																					ENST00000318021.2:c.956C>T	p.Ser319Leu	p.S319L	ENST00000318021	NM_001004695.1	319	tCa/tTa	0	not done		benign	
NFATC4		inserm.fr	GRCh37	14	24845661	24845661	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000413692.2:c.2407G>A	p.Gly803Ser	p.G803S	ENST00000413692	NM_001198967.1	803	Ggc/Agc	0	not done		possiblydamaging	
OR2M7		inserm.fr	GRCh37	1	248487386	248487386	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC433T																					ENST00000317965.2:c.485C>T	p.Ala162Val	p.A162V	ENST00000317965	NM_001004691.1	162	gCg/gTg	0	validated		benign	
OR2T4		inserm.fr	GRCh37	1	248525477	248525477	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC961T									Valid												ENST00000366475.1:c.595C>A	p.Pro199Thr	p.P199T	ENST00000366475	NM_001004696.1	199	Ccc/Acc	0	validated		probablydamaging	
OR2T6		inserm.fr	GRCh37	1	248551600	248551600	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000355728.2:c.691G>A	p.Ala231Thr	p.A231T	ENST00000355728	NM_001005471.1	231	Gct/Act	0	not done		benign	
OR2T2		inserm.fr	GRCh37	1	248616376	248616376	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2099T																					ENST00000342927.3:c.278T>A	p.Ile93Asn	p.I93N	ENST00000342927	NM_001004136.1	93	aTt/aAt	0	not done		probablydamaging	
OR2T2		inserm.fr	GRCh37	1	248616656	248616656	+	synonymous_variant	Silent	SNP	G	A	A			CHC2351T																					ENST00000342927.3:c.558G>A	p.Leu186=	p.L186=	ENST00000342927	NM_001004136.1	186	ctG/ctA	0	not done		synonymous	
NYNRIN		inserm.fr	GRCh37	14	24878070	24878070	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000382554.3:c.1070G>A	p.Gly357Glu	p.G357E	ENST00000382554	NM_025081.2	357	gGg/gAg	0	not done		benign	
OR2T11		inserm.fr	GRCh37	1	248789763	248789763	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000330803.2:c.667C>T	p.His223Tyr	p.H223Y	ENST00000330803	NM_001001964.1	223	Cac/Tac	0	not done		benign	
OR2T11		inserm.fr	GRCh37	1	248789977	248789977	+	synonymous_variant	Silent	SNP	G	A	A			CHC2216T																					ENST00000330803.2:c.453C>T	p.Leu151=	p.L151=	ENST00000330803	NM_001001964.1	151	ctC/ctT	0	not done		synonymous	
CCNF		inserm.fr	GRCh37	16	2488125	2488125	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000397066.4:c.594+1G>A		p.X198_splice	ENST00000397066	NM_001761.2			0	not done		damaging	
C1QTNF9		inserm.fr	GRCh37	13	24895816	24895816	+	synonymous_variant	Silent	SNP	G	A	A			BCM423T																					ENST00000382071.2:c.912G>A	p.Gln304=	p.Q304=	ENST00000382071		304	caG/caA	0	validated		synonymous	
KHNYN		inserm.fr	GRCh37	14	24901390	24901390	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000251343.5:c.923G>A	p.Gly308Glu	p.G308E	ENST00000251343		308	gGg/gAg	0	not done		benign	
UPB1		inserm.fr	GRCh37	22	24906716	24906716	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC2141T																					ENST00000326010.5:c.365-1G>A		p.X122_splice	ENST00000326010	NM_016327.2			0	not done		damaging	
SH3BP5L		inserm.fr	GRCh37	1	249106137	249106137	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB231T																					ENST00000366472.5:c.1144G>T	p.Ala382Ser	p.A382S	ENST00000366472	NM_030645.1	382	Gcc/Tcc	0	validated		benign	
NCOA1		inserm.fr	GRCh37	2	24914414	24914414	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1592T																					ENST00000406961.1:c.597G>A	p.Met199Ile	p.M199I	ENST00000406961		199	atG/atA	0	not done		possiblydamaging	
ZNF692		inserm.fr	GRCh37	1	249152441	249152441	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1207T																					ENST00000451251.1:c.83G>T	p.Arg28Leu	p.R28L	ENST00000451251	NM_001136036.2	28	cGc/cTc	0	validated		probablydamaging	
SLC5A11		inserm.fr	GRCh37	16	24918417	24918417	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000347898.3:c.1186G>A	p.Ala396Thr	p.A396T	ENST00000347898	NM_052944.3	396	Gcc/Acc	0	not done		possiblydamaging	
LUC7L		inserm.fr	GRCh37	16	249213	249213	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC703T																					ENST00000293872.8:c.535G>T	p.Ala179Ser	p.A179S	ENST00000293872	NM_201412.1	179	Gca/Tca	0	validated		possiblydamaging	
NPAP1		inserm.fr	GRCh37	15	24922979	24922979	+	synonymous_variant	Silent	SNP	G	A	A			CHC1704T																					ENST00000329468.2:c.1965G>A	p.Gln655=	p.Q655=	ENST00000329468	NM_018958.2	655	caG/caA	0	not done		synonymous	
NPAP1		inserm.fr	GRCh37	15	24923246	24923246	+	synonymous_variant	Silent	SNP	C	A	A			CHC1754T																					ENST00000329468.2:c.2232C>A	p.Gly744=	p.G744=	ENST00000329468	NM_018958.2	744	ggC/ggA	0	not done		synonymous	
NPAP1		inserm.fr	GRCh37	15	24923405	24923405	+	synonymous_variant	Silent	SNP	C	A	A			CHC805T																					ENST00000329468.2:c.2391C>A	p.Ile797=	p.I797=	ENST00000329468	NM_018958.2	797	atC/atA	0	not done		synonymous	
NPAP1		inserm.fr	GRCh37	15	24923719	24923719	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000329468.2:c.2705G>A	p.Gly902Glu	p.G902E	ENST00000329468	NM_018958.2	902	gGg/gAg	0	not done		probablydamaging	
CMA1		inserm.fr	GRCh37	14	24975696	24975696	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000250378.3:c.324C>T	p.His108=	p.H108=	ENST00000250378	NM_001836.3	108	caC/caT	0	not done		synonymous	
SRRM1		inserm.fr	GRCh37	1	24996625	24996625	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1594T																					ENST00000323848.9:c.2219G>A	p.Ser740Asn	p.S740N	ENST00000323848	NM_005839.3	740	aGc/aAc	0	not done		benign	
LGI2		inserm.fr	GRCh37	4	25005161	25005161	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1052T																					ENST00000382114.4:c.1550C>T	p.Ser517Phe	p.S517F	ENST00000382114	NM_018176.3	517	tCc/tTc	0	validated		benign	
GGT1		inserm.fr	GRCh37	22	25023406	25023406	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC307T																					ENST00000400382.1:c.1028G>A	p.Arg343His	p.R343H	ENST00000400382	NM_001288833.1	343	cGc/cAc	0	validated		benign	
GGT1		inserm.fr	GRCh37	22	25024770	25024770	+	synonymous_variant	Silent	SNP	G	A	A			CHC1052T																					ENST00000400382.1:c.1674G>A	p.Ser558=	p.S558=	ENST00000400382	NM_001288833.1	558	tcG/tcA	0	validated		synonymous	
ARX		inserm.fr	GRCh37	X	25031296	25031296	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000379044.4:c.816C>T	p.Gly272=	p.G272=	ENST00000379044	NM_139058.2	272	ggC/ggT	0	not done		synonymous	
ADCY3		inserm.fr	GRCh37	2	25048926	25048926	+	synonymous_variant	Silent	SNP	G	A	A			CHC1598T																					ENST00000260600.5:c.2565C>T	p.Tyr855=	p.Y855=	ENST00000260600	NM_004036.3	855	taC/taT	0	not done		synonymous	
PARP4		inserm.fr	GRCh37	13	25058885	25058885	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			BCM483T									Valid												ENST00000381989.3:c.1354G>T	p.Gly452Trp	p.G452W	ENST00000381989	NM_006437.3	452	Ggg/Tgg	0	validated		probablydamaging	
VSX1		inserm.fr	GRCh37	20	25062571	25062571	+	synonymous_variant	Silent	SNP	G	A	A			BCM275T																					ENST00000376709.4:c.162C>T	p.Gly54=	p.G54=	ENST00000376709	NM_014588.5	54	ggC/ggT	0	validated		synonymous	
PARP4		inserm.fr	GRCh37	13	25067795	25067795	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1746T																					ENST00000381989.3:c.818A>T	p.Glu273Val	p.E273V	ENST00000381989	NM_006437.3	273	gAg/gTg	0	not done		probablydamaging	
ADCY3		inserm.fr	GRCh37	2	25095487	25095487	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000260600.5:c.777C>T	p.Arg259=	p.R259=	ENST00000260600	NM_004036.3	259	cgC/cgT	0	not done		synonymous	
PIWIL3		inserm.fr	GRCh37	22	25119181	25119181	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000332271.5:c.2300C>T	p.Thr767Ile	p.T767I	ENST00000332271	NM_001255975.1	767	aCt/aTt	0	not done		probablydamaging	
C16orf59		inserm.fr	GRCh37	16	2512460	2512460	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000361837.4:c.795G>A	p.Ala265=	p.A265=	ENST00000361837	NM_025108.2	265	gcG/gcA	0	validated		synonymous	
SEPSECS		inserm.fr	GRCh37	4	25125749	25125749	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000382103.2:c.1310C>T	p.Ala437Val	p.A437V	ENST00000382103	NM_016955.3	437	gCa/gTa	0	not done		probablydamaging	
PIWIL3		inserm.fr	GRCh37	22	25145440	25145440	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000332271.5:c.1265C>T	p.Ala422Val	p.A422V	ENST00000332271	NM_001255975.1	422	gCt/gTt	0	not done		probablydamaging	
DNAJC27		inserm.fr	GRCh37	2	25180765	25180765	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM375T									Valid												ENST00000264711.2:c.319C>T	p.Leu107Phe	p.L107F	ENST00000264711	NM_016544.2	107	Ctt/Ttt	0	validated		probablydamaging	
C7orf31		inserm.fr	GRCh37	7	25207999	25207999	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1725T																					ENST00000409280.1:c.220C>T	p.Leu74Phe	p.L74F	ENST00000409280		74	Ctc/Ttc	0	not done		probablydamaging	
DOCK5		inserm.fr	GRCh37	8	25209286	25209286	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC059T									Valid												ENST00000276440.7:c.2794C>A	p.Leu932Met	p.L932M	ENST00000276440	NM_024940.6	932	Ctg/Atg	0	validated		probablydamaging	
SNURF		inserm.fr	GRCh37	15	25213177	25213177	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000338094.6:c.209G>A	p.Gly70Asp	p.G70D	ENST00000338094	NM_005678.3	70	gGt/gAt	0	not done		probablydamaging	
RARB		inserm.fr	GRCh37	3	25215994	25215994	+	downstream_gene_variant	3'Flank	SNP	C	A	A			CHC1749T																								ENST00000455576				0	not done		benign	
RARB		inserm.fr	GRCh37	3	25216032	25216032	+	downstream_gene_variant	3'Flank	SNP	G	A	A			CHC1148T																								ENST00000455576				0	not done		synonymous	
SNRPN		inserm.fr	GRCh37	15	25222045	25222045	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1044T																					ENST00000400100.1:c.289C>A	p.Leu97Ile	p.L97I	ENST00000400100	NM_022807.2	97	Ctt/Att	0	not done		benign	
RUNX3		inserm.fr	GRCh37	1	25229010	25229010	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000399916.1:c.893C>T	p.Pro298Leu	p.P298L	ENST00000399916	NM_001031680.2	298	cCc/cTc	0	not done		probablydamaging	
SGSM1		inserm.fr	GRCh37	22	25251367	25251367	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000400359.4:c.639G>A	p.Gln213=	p.Q213=	ENST00000400359	NM_133454.2	213	caG/caA	0	not done		synonymous	
MMEL1		inserm.fr	GRCh37	1	2525366	2525366	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM735T																					ENST00000378412.3:c.1754C>T	p.Pro585Leu	p.P585L	ENST00000378412		585	cCt/cTt	0	validated		probablydamaging	
ZKSCAN2		inserm.fr	GRCh37	16	25266560	25266560	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1720T																					ENST00000328086.7:c.553C>T	p.Arg185Ter	p.R185*	ENST00000328086	NM_001012981.4	185	Cga/Tga	0	not done		damaging	
SGSM1		inserm.fr	GRCh37	22	25280141	25280141	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000400359.4:c.1782G>A	p.Trp594Ter	p.W594*	ENST00000400359	NM_133454.2	594	tgG/tgA	0	not done		damaging	
ATP12A		inserm.fr	GRCh37	13	25283588	25283588	+	synonymous_variant	Silent	SNP	G	A	A			CHC805T																					ENST00000218548.6:c.2598G>A	p.Val866=	p.V866=	ENST00000218548	NM_001185085.1	866	gtG/gtA	0	validated		synonymous	
ABHD12		inserm.fr	GRCh37	20	25284223	25284223	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB157T																					ENST00000376542.3:c.992A>T	p.Glu331Val	p.E331V	ENST00000376542	NM_015600.4	331	gAg/gTg	0	validated		probablydamaging	
CASC1		inserm.fr	GRCh37	12	25302583	25302583	+	synonymous_variant	Silent	SNP	T	A	A			CHC798T																					ENST00000395987.3:c.564A>T	p.Val188=	p.V188=	ENST00000395987	NM_018272.3	188	gtA/gtT	0	validated		synonymous	
SGSM1		inserm.fr	GRCh37	22	25308676	25308676	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000400359.4:c.3050G>A	p.Gly1017Asp	p.G1017D	ENST00000400359	NM_133454.2	1017	gGc/gAc	0	not done		probablydamaging	
EFR3B		inserm.fr	GRCh37	2	25315886	25315886	+	synonymous_variant	Silent	SNP	G	A	A			CHC1531T																					ENST00000403714.3:c.99G>A	p.Lys33=	p.K33=	ENST00000403714	NM_014971.1	33	aaG/aaA	0	not done		synonymous	
SGSM1		inserm.fr	GRCh37	22	25320215	25320215	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2048T																					ENST00000400359.4:c.3421G>A	p.Val1141Met	p.V1141M	ENST00000400359	NM_133454.2	1141	Gtg/Atg	0	not done		probablydamaging	
ZCCHC4		inserm.fr	GRCh37	4	25351212	25351212	+	synonymous_variant	Silent	SNP	G	A	A			CHC1629T																					ENST00000302874.4:c.858G>A	p.Leu286=	p.L286=	ENST00000302874	NM_024936.2	286	ctG/ctA	0	not done		synonymous	
MMEL1		inserm.fr	GRCh37	1	2535364	2535364	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000378412.3:c.1000C>T	p.Arg334Trp	p.R334W	ENST00000378412		334	Cgg/Tgg	0	validated		probablydamaging	
RNF17		inserm.fr	GRCh37	13	25367450	25367450	+	synonymous_variant	Silent	SNP	G	A	A			CHC798T																					ENST00000255324.5:c.1206G>A	p.Val402=	p.V402=	ENST00000255324	NM_031277.2	402	gtG/gtA	0	validated		synonymous	
RNF17		inserm.fr	GRCh37	13	25399898	25399898	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM275T									Valid												ENST00000255324.5:c.2233G>A	p.Ala745Thr	p.A745T	ENST00000255324	NM_031277.2	745	Gca/Aca	0	validated		probablydamaging	
KIAA1671		inserm.fr	GRCh37	22	25424161	25424161	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000358431.3:c.195G>A	p.Arg65=	p.R65=	ENST00000358431	NM_001145206.1	65	agG/agA	0	not done		synonymous	
KIAA1671		inserm.fr	GRCh37	22	25424334	25424334	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000358431.3:c.368G>A	p.Gly123Asp	p.G123D	ENST00000358431	NM_001145206.1	123	gGc/gAc	0	not done		benign	
KIAA1671		inserm.fr	GRCh37	22	25424455	25424455	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000358431.3:c.489G>A	p.Gly163=	p.G163=	ENST00000358431	NM_001145206.1	163	ggG/ggA	0	not done		synonymous	
KIAA1671		inserm.fr	GRCh37	22	25435684	25435684	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000358431.3:c.2587G>A	p.Gly863Arg	p.G863R	ENST00000358431	NM_001145206.1	863	Ggg/Agg	0	not done		benign	
MMEL1		inserm.fr	GRCh37	1	2543570	2543570	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000378412.3:c.228C>T	p.Pro76=	p.P76=	ENST00000378412		76	ccC/ccT	0	not done		synonymous	
RNF17		inserm.fr	GRCh37	13	25442844	25442844	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCB157T																					ENST00000255324.5:c.4268C>A	p.Ser1423Ter	p.S1423*	ENST00000255324	NM_031277.2	1423	tCa/tAa	0	validated		damaging	
GPR158		inserm.fr	GRCh37	10	25464365	25464365	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1152T																					ENST00000376351.3:c.16T>A	p.Tyr6Asn	p.Y6N	ENST00000376351	NM_020752.2	6	Tac/Aac	0	not done		benign	
TBC1D24		inserm.fr	GRCh37	16	2546728	2546728	+	synonymous_variant	Silent	SNP	G	A	A			CHC1534T																					ENST00000293970.5:c.579G>A	p.Ala193=	p.A193=	ENST00000293970	NM_001199107.1	193	gcG/gcA	0	validated		synonymous	
CENPJ		inserm.fr	GRCh37	13	25478187	25478187	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC155T																					ENST00000381884.4:c.2702C>T	p.Ala901Val	p.A901V	ENST00000381884	NM_018451.4	901	gCt/gTt	0	validated		benign	
CENPJ		inserm.fr	GRCh37	13	25480745	25480745	+	synonymous_variant	Silent	SNP	C	A	A			CHC805T																					ENST00000381884.4:c.1431G>T	p.Thr477=	p.T477=	ENST00000381884	NM_018451.4	477	acG/acT	0	not done		synonymous	
LRRC16A		inserm.fr	GRCh37	6	25538199	25538199	+	synonymous_variant	Silent	SNP	G	A	A			CHC1534T																					ENST00000329474.6:c.2184G>A	p.Lys728=	p.K728=	ENST00000329474	NM_001173977.1	728	aaG/aaA	0	validated		synonymous	
CDH2		inserm.fr	GRCh37	18	25565628	25565628	+	synonymous_variant	Silent	SNP	G	A	A			CHC2115T																					ENST00000269141.3:c.1839C>T	p.Cys613=	p.C613=	ENST00000269141	NM_001792.3	613	tgC/tgT	0	not done		synonymous	
KIAA1671		inserm.fr	GRCh37	22	25570333	25570333	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000358431.3:c.4776G>A	p.Arg1592=	p.R1592=	ENST00000358431	NM_001145206.1	1592	agG/agA	0	not done		synonymous	
CDH2		inserm.fr	GRCh37	18	25585955	25585955	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			BCB151T									Valid												ENST00000269141.3:c.705G>T	p.Leu235Phe	p.L235F	ENST00000269141	NM_001792.3	235	ttG/ttT	0	validated		possiblydamaging	
UBE3A		inserm.fr	GRCh37	15	25602041	25602041	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	A	A			BCM723T																					ENST00000397954.2:c.1765A>T	p.Met589Leu	p.M589L	ENST00000397954		589	Atg/Ttg	0	validated		probablydamaging	
UBE3A		inserm.fr	GRCh37	15	25605566	25605566	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC258T																					ENST00000397954.2:c.1726C>T	p.Gln576Ter	p.Q576*	ENST00000397954		576	Cag/Tag	0	validated		damaging	
WSB1		inserm.fr	GRCh37	17	25630439	25630439	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1545T																					ENST00000262394.2:c.256T>A	p.Leu86Met	p.L86M	ENST00000262394	NM_015626.8	86	Ttg/Atg	0	not done		probablydamaging	
UBE3A		inserm.fr	GRCh37	15	25650635	25650635	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1734T																					ENST00000397954.2:c.44A>T	p.Gln15Leu	p.Q15L	ENST00000397954		15	cAg/cTg	0	not done		benign	
LFNG		inserm.fr	GRCh37	7	2565129	2565129	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000222725.5:c.663G>A	p.Arg221=	p.R221=	ENST00000222725	NM_001040167.1	221	cgG/cgA	0	not done		synonymous	
ZNF337		inserm.fr	GRCh37	20	25655706	25655706	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2321T																					ENST00000376436.1:c.2218C>T	p.Arg740Cys	p.R740C	ENST00000376436		740	Cgt/Tgt	0	validated		probablydamaging	
TOP2B		inserm.fr	GRCh37	3	25668728	25668728	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM703T																					ENST00000435706.2:c.1951C>T	p.Arg651Cys	p.R651C	ENST00000435706	NM_001068.3	651	Cgc/Tgc	0	validated		probablydamaging	
PABPC3		inserm.fr	GRCh37	13	25671850	25671850	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM269T																					ENST00000281589.3:c.1514G>A	p.Arg505Gln	p.R505Q	ENST00000281589	NM_030979.2	505	cGg/cAg	0	validated		benign	
SLC34A2		inserm.fr	GRCh37	4	25674832	25674832	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2103T																					ENST00000382051.3:c.1172T>A	p.Leu391His	p.L391H	ENST00000382051	NM_006424.2	391	cTc/cAc	0	not done		probablydamaging	
SLC34A2		inserm.fr	GRCh37	4	25678165	25678165	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB109T									Valid												ENST00000382051.3:c.1867C>A	p.Arg623Ser	p.R623S	ENST00000382051	NM_006424.2	623	Cgc/Agc	0	validated		possiblydamaging	
GPR158		inserm.fr	GRCh37	10	25701355	25701355	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1736T																					ENST00000376351.3:c.1288C>A	p.Leu430Ile	p.L430I	ENST00000376351	NM_020752.2	430	Ctc/Atc	0	not done		possiblydamaging	
GPR158		inserm.fr	GRCh37	10	25701364	25701364	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1741T																					ENST00000376351.3:c.1297G>A	p.Val433Ile	p.V433I	ENST00000376351	NM_020752.2	433	Gtt/Att	0	not done		benign	
PAFAH1B1		inserm.fr	GRCh37	17	2570374	2570374	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC429T									Valid												ENST00000397195.5:c.281G>A	p.Trp94Ter	p.W94*	ENST00000397195	NM_000430.3	94	tGg/tAg	0	validated		damaging	
AMER2		inserm.fr	GRCh37	13	25745015	25745015	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000515384.1:c.743C>T	p.Pro248Leu	p.P248L	ENST00000515384		248	cCg/cTg	0	not done		probablydamaging	
SEL1L3		inserm.fr	GRCh37	4	25759352	25759352	+	synonymous_variant	Silent	SNP	C	A	A			CHC433T																					ENST00000399878.3:c.3144G>T	p.Leu1048=	p.L1048=	ENST00000399878	NM_015187.3	1048	ctG/ctT	0	validated		synonymous	
BRAT1		inserm.fr	GRCh37	7	2578122	2578122	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1736T																					ENST00000340611.4:c.2047G>T	p.Ala683Ser	p.A683S	ENST00000340611	NM_152743.3	683	Gcc/Tcc	0	not done		benign	
SEL1L3		inserm.fr	GRCh37	4	25803904	25803904	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC1186T																					ENST00000399878.3:c.1956+1G>T		p.X652_splice	ENST00000399878	NM_015187.3			0	not done		possiblydamaging	
OXSM		inserm.fr	GRCh37	3	25833073	25833073	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000280701.3:c.562G>A	p.Ala188Thr	p.A188T	ENST00000280701	NM_017897.2	188	Gca/Aca	0	not done		possiblydamaging	
GPR158		inserm.fr	GRCh37	10	25886941	25886941	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM275T																					ENST00000376351.3:c.2386T>A	p.Ser796Thr	p.S796T	ENST00000376351	NM_020752.2	796	Tca/Aca	0	validated		benign	
GPR158		inserm.fr	GRCh37	10	25887690	25887690	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000376351.3:c.3135G>A	p.Lys1045=	p.K1045=	ENST00000376351	NM_020752.2	1045	aaG/aaA	0	not done		synonymous	
GPR158		inserm.fr	GRCh37	10	25887840	25887840	+	synonymous_variant	Silent	SNP	C	A	A			CHC1629T																					ENST00000376351.3:c.3285C>A	p.Leu1095=	p.L1095=	ENST00000376351	NM_020752.2	1095	ctC/ctA	0	not done		synonymous	
LDLRAP1		inserm.fr	GRCh37	1	25889593	25889593	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000374338.4:c.565G>A	p.Gly189Arg	p.G189R	ENST00000374338	NM_015627.2	189	Gga/Aga	0	not done		benign	
ATP10A		inserm.fr	GRCh37	15	25925088	25925088	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000356865.6:c.3900C>T	p.Phe1300=	p.F1300=	ENST00000356865	NM_024490.3	1300	ttC/ttT	0	not done		synonymous	
KSR1		inserm.fr	GRCh37	17	25932652	25932652	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000398988.3:c.1462G>A	p.Gly488Ser	p.G488S	ENST00000398988	NM_014238.1	488	Ggc/Agc	0	not done		probablydamaging	
KSR1		inserm.fr	GRCh37	17	25932657	25932657	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000398988.3:c.1467G>A	p.Arg489=	p.R489=	ENST00000398988	NM_014238.1	489	cgG/cgA	0	not done		synonymous	
ATP10A		inserm.fr	GRCh37	15	25940249	25940249	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1534T																					ENST00000356865.6:c.2805G>T	p.Gln935His	p.Q935H	ENST00000356865	NM_024490.3	935	caG/caT	0	validated		possiblydamaging	
ATP10A		inserm.fr	GRCh37	15	25959284	25959284	+	synonymous_variant	Silent	SNP	G	A	A			CHC433T																					ENST00000356865.6:c.1881C>T	p.Ser627=	p.S627=	ENST00000356865	NM_024490.3	627	agC/agT	0	validated		synonymous	
ATP10A		inserm.fr	GRCh37	15	25959285	25959285	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T																					ENST00000356865.6:c.1880G>T	p.Ser627Ile	p.S627I	ENST00000356865	NM_024490.3	627	aGc/aTc	0	validated		benign	
TRIM38		inserm.fr	GRCh37	6	25966864	25966864	+	synonymous_variant	Silent	SNP	G	A	A			CHC1747T																					ENST00000357085.3:c.114G>A	p.Leu38=	p.L38=	ENST00000357085	NM_006355.3	38	ttG/ttA	0	not done		synonymous	
ATP10A		inserm.fr	GRCh37	15	25966865	25966865	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1742T																					ENST00000356865.6:c.1302G>T	p.Glu434Asp	p.E434D	ENST00000356865	NM_024490.3	434	gaG/gaT	0	not done		probablydamaging	
ATP10A		inserm.fr	GRCh37	15	25972334	25972334	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1611T																					ENST00000356865.6:c.820G>T	p.Ala274Ser	p.A274S	ENST00000356865	NM_024490.3	274	Gca/Tca	0	not done		benign	
ATP10A		inserm.fr	GRCh37	15	25972365	25972365	+	synonymous_variant	Silent	SNP	C	A	A			CHC1044T																					ENST00000356865.6:c.789G>T	p.Leu263=	p.L263=	ENST00000356865	NM_024490.3	263	ctG/ctT	0	not done		synonymous	
LGALS9		inserm.fr	GRCh37	17	25974295	25974295	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000395473.2:c.759-1G>A		p.X253_splice	ENST00000395473	NM_009587.2			0	not done		damaging	
ASXL2		inserm.fr	GRCh37	2	25990474	25990474	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1725T																					ENST00000435504.4:c.753G>T	p.Gln251His	p.Q251H	ENST00000435504		251	caG/caT	0	not done		probablydamaging	
CLUH		inserm.fr	GRCh37	17	2600151	2600151	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1180T																					ENST00000570628.2:c.1933G>T	p.Gly645Cys	p.G645C	ENST00000570628		645	Ggt/Tgt	0	validated		probablydamaging	
HIST1H4A		inserm.fr	GRCh37	6	26021990	26021990	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000359907.3:c.84G>A	p.Gln28=	p.Q28=	ENST00000359907	NM_003538.3	28	caG/caA	0	not done		synonymous	
HIST1H4A		inserm.fr	GRCh37	6	26022214	26022214	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1185T																					ENST00000359907.3:c.308G>A	p.Gly103Asp	p.G103D	ENST00000359907	NM_003538.3	103	gGt/gAt	0	not done		probablydamaging	
C17orf97		inserm.fr	GRCh37	17	260299	260299	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1185T																					ENST00000360127.6:c.166G>A	p.Glu56Lys	p.E56K	ENST00000360127	NM_001013672.4	56	Gag/Aag	0	validated		probablydamaging	
ADRBK2		inserm.fr	GRCh37	22	26074815	26074815	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1592T																					ENST00000324198.6:c.680T>A	p.Ile227Asn	p.I227N	ENST00000324198	NM_005160.3	227	aTc/aAc	0	not done		possiblydamaging	
HFE		inserm.fr	GRCh37	6	26091288	26091288	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM397T																					ENST00000357618.5:c.296C>A	p.Thr99Asn	p.T99N	ENST00000357618	NM_000410.3	99	aCt/aAt	0	validated		probablydamaging	
ADRBK2		inserm.fr	GRCh37	22	26114218	26114218	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000324198.6:c.1661C>A	p.Ala554Asp	p.A554D	ENST00000324198	NM_005160.3	554	gCt/gAt	0	validated		possiblydamaging	
NOS2		inserm.fr	GRCh37	17	26114826	26114826	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000313735.6:c.345C>T	p.Cys115=	p.C115=	ENST00000313735	NM_000625.4	115	tgC/tgT	0	not done		synonymous	
HIST1H2BC		inserm.fr	GRCh37	6	26124080	26124080	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC891T																					ENST00000314332.5:c.53C>T	p.Ala18Val	p.A18V	ENST00000314332		18	gCa/gTa	0	not done		benign	
HIST1H2BC		inserm.fr	GRCh37	6	26124129	26124129	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1183T																					ENST00000314332.5:c.4C>T	p.Pro2Ser	p.P2S	ENST00000314332		2	Cct/Tct	0	not done		benign	
HIST1H2AC		inserm.fr	GRCh37	6	26124462	26124462	+	start_lost	Translation_Start_Site	SNP	T	A	A			CHC2099T																					ENST00000602637.1:c.2T>A	p.Met1?	p.M1?	ENST00000602637		1	aTg/aAg	0	not done		benign	
ATP8A2		inserm.fr	GRCh37	13	26138105	26138105	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC902T																					ENST00000381655.2:c.1409C>A	p.Pro470His	p.P470H	ENST00000381655	NM_016529.4	470	cCt/cAt	0	not done		probablydamaging	
HS3ST4		inserm.fr	GRCh37	16	26147294	26147294	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1079T																					ENST00000331351.5:c.1096G>A	p.Gly366Arg	p.G366R	ENST00000331351	NM_006040.2	366	Ggg/Agg	0	not done		probablydamaging	
MAGEB18		inserm.fr	GRCh37	X	26158128	26158128	+	synonymous_variant	Silent	SNP	T	A	A			CHC1725T																					ENST00000325250.1:c.1026T>A	p.Ala342=	p.A342=	ENST00000325250	NM_173699.3	342	gcT/gcA	0	not done		synonymous	
HIST1H2BD		inserm.fr	GRCh37	6	26158610	26158610	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1209T																					ENST00000289316.2:c.213C>A	p.Phe71Leu	p.F71L	ENST00000289316	NM_138720.2	71	ttC/ttA	0	not done		probablydamaging	
NDC80		inserm.fr	GRCh37	18	2616504	2616504	+	synonymous_variant	Silent	SNP	G	A	A			CHC1592T																					ENST00000261597.4:c.1860G>A	p.Ser620=	p.S620=	ENST00000261597	NM_006101.2	620	tcG/tcA	0	not done		synonymous	
HIST1H4D		inserm.fr	GRCh37	6	26189250	26189250	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1044T																					ENST00000340756.2:c.55C>T	p.His19Tyr	p.H19Y	ENST00000340756	NM_003539.3	19	Cac/Tac	0	not done		unknown	
HIST1H2BF		inserm.fr	GRCh37	6	26200141	26200141	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359985.1:c.355G>A	p.Val119Ile	p.V119I	ENST00000359985	NM_003522.3	119	Gtc/Atc	0	not done		benign	
KIF3C		inserm.fr	GRCh37	2	26203577	26203577	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000264712.3:c.1210C>T	p.Pro404Ser	p.P404S	ENST00000264712	NM_002254.6	404	Ccc/Tcc	0	not done		benign	
MAGEB6		inserm.fr	GRCh37	X	26212048	26212048	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1192T																					ENST00000379034.1:c.85C>A	p.Gln29Lys	p.Q29K	ENST00000379034	NM_173523.2	29	Cag/Aag	0	not done		possiblydamaging	
MAGEB6		inserm.fr	GRCh37	X	26212099	26212099	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM783T																					ENST00000379034.1:c.136C>A	p.Arg46Ser	p.R46S	ENST00000379034	NM_173523.2	46	Cgc/Agc	0	validated		benign	
HIST1H2BG		inserm.fr	GRCh37	6	26216724	26216724	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM375T									Valid												ENST00000244601.3:c.148C>T	p.His50Tyr	p.H50Y	ENST00000244601	NM_003518.3	50	Cac/Tac	0	validated		probablydamaging	
HIST1H3E		inserm.fr	GRCh37	6	26225598	26225598	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000360408.1:c.216G>A	p.Val72=	p.V72=	ENST00000360408	NM_003532.2	72	gtG/gtA	0	not done		synonymous	
MAGEB5		inserm.fr	GRCh37	X	26235608	26235608	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000602297.1:c.190G>A	p.Glu64Lys	p.E64K	ENST00000602297	NM_001271752.1	64	Gaa/Aaa	0	not done			
HIST1H4F		inserm.fr	GRCh37	6	26240799	26240799	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000377745.2:c.146G>A	p.Gly49Asp	p.G49D	ENST00000377745	NM_003540.3	49	gGc/gAc	0	not done		probablydamaging	
ATP8A2		inserm.fr	GRCh37	13	26273342	26273342	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM683T																					ENST00000381655.2:c.2243C>A	p.Thr748Asn	p.T748N	ENST00000381655	NM_016529.4	748	aCt/aAt	0	validated		benign	
BHLHE41		inserm.fr	GRCh37	12	26276014	26276014	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1750T																					ENST00000242728.4:c.434A>T	p.Tyr145Phe	p.Y145F	ENST00000242728	NM_030762.2	145	tAc/tTc	0	not done		probablydamaging	
MYO18B		inserm.fr	GRCh37	22	26286780	26286780	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1531T																					ENST00000335473.7:c.4372C>A	p.Gln1458Lys	p.Q1458K	ENST00000335473	NM_032608.5	1458	Cag/Aag	0	not done		probablydamaging	
FAM193A		inserm.fr	GRCh37	4	2632790	2632790	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000324666.5:c.59G>A	p.Gly20Asp	p.G20D	ENST00000324666	NM_001256666.1	20	gGc/gAc	0	not done		benign	
NLK		inserm.fr	GRCh37	17	26370196	26370196	+	synonymous_variant	Silent	SNP	G	A	A			CHC2216T																					ENST00000407008.3:c.297G>A	p.Pro99=	p.P99=	ENST00000407008	NM_016231.4	99	ccG/ccA	0	not done		synonymous	
BTN2A2		inserm.fr	GRCh37	6	26385346	26385346	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000356709.4:c.198G>A	p.Met66Ile	p.M66I	ENST00000356709	NM_001197240.1	66	atG/atA	0	not done		probablydamaging	
BTN2A2		inserm.fr	GRCh37	6	26385383	26385383	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB109T									Valid												ENST00000356709.4:c.235G>A	p.Val79Met	p.V79M	ENST00000356709	NM_001197240.1	79	Gtg/Atg	0	validated		probablydamaging	
BTN2A2		inserm.fr	GRCh37	6	26385428	26385428	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000356709.4:c.280G>A	p.Glu94Lys	p.E94K	ENST00000356709	NM_001197240.1	94	Gag/Aag	0	not done		benign	
BTN2A2		inserm.fr	GRCh37	6	26393082	26393082	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000356709.4:c.1459G>A	p.Gly487Arg	p.G487R	ENST00000356709	NM_001197240.1	487	Ggg/Agg	0	not done		probablydamaging	
ATP8A2		inserm.fr	GRCh37	13	26402270	26402270	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC306T																					ENST00000381655.2:c.2694T>A	p.Phe898Leu	p.F898L	ENST00000381655	NM_016529.4	898	ttT/ttA	0	validated		probablydamaging	
GAREML		inserm.fr	GRCh37	2	26410636	26410636	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1736T																					ENST00000401533.2:c.2135C>A	p.Pro712Gln	p.P712Q	ENST00000401533	NM_001168241.1	712	cCa/cAa	0	not done			
MYO3A		inserm.fr	GRCh37	10	26414501	26414501	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM275T									Valid												ENST00000265944.5:c.2078G>A	p.Cys693Tyr	p.C693Y	ENST00000265944	NM_017433.4	693	tGc/tAc	0	validated		possiblydamaging	
MYO18B		inserm.fr	GRCh37	22	26422563	26422563	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000335473.7:c.6623G>A	p.Gly2208Asp	p.G2208D	ENST00000335473	NM_032608.5	2208	gGc/gAc	0	not done		benign	
MYO18B		inserm.fr	GRCh37	22	26422590	26422590	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1534T																					ENST00000335473.7:c.6650C>A	p.Ser2217Tyr	p.S2217Y	ENST00000335473	NM_032608.5	2217	tCc/tAc	0	validated		benign	
MYO18B		inserm.fr	GRCh37	22	26422713	26422713	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1774T																					ENST00000335473.7:c.6773G>A	p.Arg2258Gln	p.R2258Q	ENST00000335473	NM_032608.5	2258	cGg/cAg	0	validated		probablydamaging	
RBPJ		inserm.fr	GRCh37	4	26426016	26426016	+	synonymous_variant	Silent	SNP	G	A	A			CHC1597T																					ENST00000342295.1:c.588G>A	p.Gln196=	p.Q196=	ENST00000342295	NM_005349.3	196	caG/caA	0	not done		synonymous	
BTN3A3		inserm.fr	GRCh37	6	26444325	26444325	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000244519.2:c.226G>A	p.Val76Met	p.V76M	ENST00000244519	NM_006994.4	76	Gtg/Atg	0	not done		probablydamaging	
BTN3A3		inserm.fr	GRCh37	6	26448609	26448609	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000244519.2:c.849G>A	p.Glu283=	p.E283=	ENST00000244519	NM_006994.4	283	gaG/gaA	0	not done		synonymous	
BTN3A3		inserm.fr	GRCh37	6	26448668	26448668	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000244519.2:c.908G>A	p.Ser303Asn	p.S303N	ENST00000244519	NM_006994.4	303	aGc/aAc	0	not done		probablydamaging	
PDIK1L		inserm.fr	GRCh37	1	26449008	26449008	+	synonymous_variant	Silent	SNP	T	A	A			CHC2351T																					ENST00000374271.4:c.966T>A	p.Ala322=	p.A322=	ENST00000374271	NM_001243533.1	322	gcT/gcA	0	not done		synonymous	
ANO3		inserm.fr	GRCh37	11	26463613	26463613	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000256737.3:c.195G>A	p.Gln65=	p.Q65=	ENST00000256737	NM_031418.2	65	caG/caA	0	not done		synonymous	
DPYSL2		inserm.fr	GRCh37	8	26481714	26481714	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000311151.5:c.369G>A	p.Trp123Ter	p.W123*	ENST00000311151	NM_001386.5	123	tgG/tgA	0	not done		damaging	
NLK		inserm.fr	GRCh37	17	26488207	26488207	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1061T									Valid												ENST00000407008.3:c.666G>A	p.Met222Ile	p.M222I	ENST00000407008	NM_016231.4	222	atG/atA	0	validated		possiblydamaging	
FAM110D		inserm.fr	GRCh37	1	26488227	26488227	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000374268.3:c.445C>A	p.Arg149=	p.R149=	ENST00000374268	NM_024869.2	149	Cgg/Agg	0	not done		synonymous	
CCKAR		inserm.fr	GRCh37	4	26491039	26491039	+	synonymous_variant	Silent	SNP	C	A	A			CHC1751T																					ENST00000295589.3:c.180G>T	p.Thr60=	p.T60=	ENST00000295589	NM_000730.2	60	acG/acT	0	not done		synonymous	
BTN1A1		inserm.fr	GRCh37	6	26502021	26502021	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000244513.6:c.283G>A	p.Ala95Thr	p.A95T	ENST00000244513	NM_001732.2	95	Gcg/Acg	0	not done		benign	
CNKSR1		inserm.fr	GRCh37	1	26507079	26507079	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000361530.6:c.188G>A	p.Gly63Glu	p.G63E	ENST00000361530		63	gGg/gAg	0	not done		probablydamaging	
CNKSR1		inserm.fr	GRCh37	1	26507359	26507359	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000361530.6:c.364G>A	p.Ala122Thr	p.A122T	ENST00000361530		122	Gct/Act	0	not done		probablydamaging	
BTN1A1		inserm.fr	GRCh37	6	26509313	26509313	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1595T																					ENST00000244513.6:c.1492T>A	p.Ser498Thr	p.S498T	ENST00000244513	NM_001732.2	498	Tcc/Acc	0	validated		benign	
DPYSL2		inserm.fr	GRCh37	8	26509856	26509856	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000311151.5:c.1365G>A	p.Glu455=	p.E455=	ENST00000311151	NM_001386.5	455	gaG/gaA	0	not done		synonymous	
CNKSR1		inserm.fr	GRCh37	1	26511584	26511584	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000361530.6:c.1215G>A	p.Leu405=	p.L405=	ENST00000361530		405	ttG/ttA	0	not done		synonymous	
CNKSR1		inserm.fr	GRCh37	1	26514788	26514788	+	synonymous_variant	Silent	SNP	C	A	A			CHC879T																					ENST00000361530.6:c.1518C>A	p.Pro506=	p.P506=	ENST00000361530		506	ccC/ccA	0	not done		synonymous	
GPR113		inserm.fr	GRCh37	2	26534824	26534824	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC909T																					ENST00000311519.1:c.1772C>T	p.Ala591Val	p.A591V	ENST00000311519	NM_001145168.1	591	gCa/gTa	0	not done		benign	
ANO3		inserm.fr	GRCh37	11	26563568	26563568	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000256737.3:c.1107G>A	p.Trp369Ter	p.W369*	ENST00000256737	NM_031418.2	369	tgG/tgA	0	not done		damaging	
FAM193A		inserm.fr	GRCh37	4	2656837	2656837	+	intron_variant	Intron	SNP	C	A	A			CHC1746T																					ENST00000324666.5:c.439-2693C>A		*147*	ENST00000324666	NM_001256666.1			0	not done			
MUC15		inserm.fr	GRCh37	11	26587134	26587134	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC059T																					ENST00000436318.2:c.353C>T	p.Ser118Leu	p.S118L	ENST00000436318		118	tCa/tTa	0	validated		benign	
DRC1		inserm.fr	GRCh37	2	26644173	26644173	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000288710.2:c.261G>A	p.Leu87=	p.L87=	ENST00000288710	NM_145038.2	87	ctG/ctA	0	not done		synonymous	
AIM1L		inserm.fr	GRCh37	1	26673095	26673095	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC1061T																								ENST00000527815	NM_001039775.3			0	validated		synonymous	
ZNF683		inserm.fr	GRCh37	1	26691194	26691194	+	synonymous_variant	Silent	SNP	G	A	A			CHC1725T																					ENST00000374204.1:c.843C>T	p.Thr281=	p.T281=	ENST00000374204	NM_173574.2	281	acC/acT	0	not done		synonymous	
ZNF683		inserm.fr	GRCh37	1	26691561	26691561	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T																					ENST00000374204.1:c.476C>T	p.Pro159Leu	p.P159L	ENST00000374204	NM_173574.2	159	cCa/cTa	0	validated		benign	
SEBOX		inserm.fr	GRCh37	17	26692201	26692201	+	intron_variant	Intron	SNP	G	A	A			CHC1079T																					ENST00000555059.2:c.330-224C>T		*110*	ENST00000555059				0	validated		synonymous	
SEZ6L		inserm.fr	GRCh37	22	26692902	26692902	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM545T									Valid												ENST00000248933.6:c.1018G>A	p.Val340Met	p.V340M	ENST00000248933		340	Gtg/Atg	0	validated		probablydamaging	
SEZ6L		inserm.fr	GRCh37	22	26693010	26693010	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000248933.6:c.1126G>A	p.Asp376Asn	p.D376N	ENST00000248933		376	Gac/Aac	0	not done		possiblydamaging	
OTOF		inserm.fr	GRCh37	2	26696315	26696315	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1754T																					ENST00000272371.2:c.3529A>T	p.Lys1177Ter	p.K1177*	ENST00000272371	NM_194248.2	1177	Aag/Tag	0	not done		damaging	
SEZ6L		inserm.fr	GRCh37	22	26702020	26702020	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1715T																					ENST00000248933.6:c.1424G>A	p.Gly475Glu	p.G475E	ENST00000248933		475	gGg/gAg	0	not done		probablydamaging	
SLC5A12		inserm.fr	GRCh37	11	26714068	26714068	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1035T																					ENST00000396005.3:c.1121A>T	p.Asp374Val	p.D374V	ENST00000396005	NM_178498.3	374	gAc/gTc	0	validated		possiblydamaging	
SEZ6L		inserm.fr	GRCh37	22	26747093	26747093	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2141T																					ENST00000248933.6:c.2483C>A	p.Thr828Asn	p.T828N	ENST00000248933		828	aCc/aAc	0	not done		probablydamaging	
LRRC3B		inserm.fr	GRCh37	3	26751267	26751267	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC889T																					ENST00000396641.2:c.104C>A	p.Pro35His	p.P35H	ENST00000396641	NM_052953.2	35	cCc/cAc	0	not done		probablydamaging	
APBB1IP		inserm.fr	GRCh37	10	26785257	26785257	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM695T																					ENST00000376236.4:c.97C>A	p.Pro33Thr	p.P33T	ENST00000376236	NM_019043.3	33	Cct/Act	0	validated		possiblydamaging	
ASPHD2		inserm.fr	GRCh37	22	26830219	26830219	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000215906.5:c.638G>A	p.Ser213Asn	p.S213N	ENST00000215906	NM_020437.4	213	aGc/aAc	0	not done		possiblydamaging	
HPS4		inserm.fr	GRCh37	22	26854430	26854430	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000398145.2:c.1827C>T	p.Arg609=	p.R609=	ENST00000398145	NM_022081.5	609	cgC/cgT	0	not done		synonymous	
FOXN1		inserm.fr	GRCh37	17	26864329	26864329	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM399T									Valid												ENST00000226247.2:c.1822C>A	p.Leu608Met	p.L608M	ENST00000226247	NM_003593.2	608	Ctg/Atg	0	validated		probablydamaging	
TTYH3		inserm.fr	GRCh37	7	2687124	2687124	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000258796.7:c.478G>A	p.Gly160Arg	p.G160R	ENST00000258796	NM_025250.2	160	Ggg/Agg	0	not done		benign	
TTYH3		inserm.fr	GRCh37	7	2687273	2687273	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000258796.7:c.626+1G>A		p.X209_splice	ENST00000258796	NM_025250.2			0	not done		damaging	
CDH9		inserm.fr	GRCh37	5	26881410	26881410	+	synonymous_variant	Silent	SNP	C	A	A			CHC798T																					ENST00000231021.4:c.2205G>T	p.Leu735=	p.L735=	ENST00000231021	NM_016279.3	735	ctG/ctT	0	validated		synonymous	
CDH9		inserm.fr	GRCh37	5	26890587	26890587	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB167T																					ENST00000231021.4:c.1340A>T	p.Asp447Val	p.D447V	ENST00000231021	NM_016279.3	447	gAc/gTc	0	validated		probablydamaging	
PIGS		inserm.fr	GRCh37	17	26890850	26890850	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM791T																					ENST00000308360.7:c.362C>T	p.Ser121Leu	p.S121L	ENST00000308360	NM_033198.3	121	tCg/tTg	0	validated		benign	
CDH9		inserm.fr	GRCh37	5	26903915	26903915	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC703T																					ENST00000231021.4:c.830C>T	p.Ser277Phe	p.S277F	ENST00000231021	NM_016279.3	277	tCt/tTt	0	validated		benign	
CDH9		inserm.fr	GRCh37	5	26915879	26915879	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1594T																					ENST00000231021.4:c.382G>T	p.Ala128Ser	p.A128S	ENST00000231021	NM_016279.3	128	Gcc/Tcc	0	not done		probablydamaging	
KCNK3		inserm.fr	GRCh37	2	26915966	26915966	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM375T									Valid												ENST00000302909.3:c.223G>A	p.Gly75Ser	p.G75S	ENST00000302909	NM_002246.2	75	Ggc/Agc	0	validated		probablydamaging	
NOVA1		inserm.fr	GRCh37	14	26917827	26917827	+	synonymous_variant	Silent	SNP	G	A	A			CHC2103T																					ENST00000539517.2:c.862C>T	p.Leu288=	p.L288=	ENST00000539517	NM_002515.2	288	Cta/Tta	0	not done		synonymous	
SMCHD1		inserm.fr	GRCh37	18	2694590	2694590	+	synonymous_variant	Silent	SNP	G	A	A			CHC1600T																					ENST00000320876.6:c.939G>A	p.Glu313=	p.E313=	ENST00000320876	NM_015295.2	313	gaG/gaA	0	not done		synonymous	
KCNK3		inserm.fr	GRCh37	2	26951068	26951068	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1081T																					ENST00000302909.3:c.817G>A	p.Gly273Ser	p.G273S	ENST00000302909	NM_002246.2	273	Ggc/Agc	0	validated		benign	
BLTP2		inserm.fr	GRCh37	17	26958838	26958838	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC2099T																					ENST00000528896.2:c.4096G>T	p.Ala1366Ser	p.A1366S	ENST00000528896	NM_014680.3	1366	Gca/Tca	0	not done		probablydamaging	
TTYH3		inserm.fr	GRCh37	7	2697971	2697971	+	synonymous_variant	Silent	SNP	G	A	A			CHC1192T																					ENST00000258796.7:c.1302G>A	p.Ala434=	p.A434=	ENST00000258796	NM_025250.2	434	gcG/gcA	0	not done		synonymous	
SDF2		inserm.fr	GRCh37	17	26988804	26988804	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			BCM545T																					ENST00000247020.4:c.91A>T	p.Lys31Ter	p.K31*	ENST00000247020	NM_006923.3	31	Aag/Tag	0	validated		damaging	
SLC35F6		inserm.fr	GRCh37	2	26997912	26997912	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000344420.5:c.151G>A	p.Ala51Thr	p.A51T	ENST00000344420	NM_017877.3	51	Gca/Aca	0	not done		possiblydamaging	
FIBIN		inserm.fr	GRCh37	11	27016251	27016251	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM257T																					ENST00000318627.2:c.178G>A	p.Asp60Asn	p.D60N	ENST00000318627	NM_203371.1	60	Gac/Aac	0	validated		possiblydamaging	
TTC34		inserm.fr	GRCh37	1	2704168	2704168	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1530T																					ENST00000401095.3:c.193C>T	p.Arg65Cys	p.R65C	ENST00000401095	NM_001242672.1	65	Cgc/Tgc	0	not done			
RAB34		inserm.fr	GRCh37	17	27042283	27042283	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000447716.1:c.614C>T	p.Ala205Val	p.A205V	ENST00000447716	NM_001144943.1	205	gCc/gTc	0	not done		benign	
RAB34		inserm.fr	GRCh37	17	27044326	27044326	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000447716.1:c.147-17C>T		*49*	ENST00000447716	NM_001144943.1			0	not done			
CACNA1C		inserm.fr	GRCh37	12	2705117	2705117	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000347598.4:c.2741G>A	p.Ser914Asn	p.S914N	ENST00000347598	NM_199460.2	914	aGc/aAc	0	not done		probablydamaging	
ARID1A		inserm.fr	GRCh37	1	27056232	27056232	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1763T									Valid												ENST00000324856.7:c.1228G>A	p.Gly410Arg	p.G410R	ENST00000324856	NM_006015.4	410	Gga/Aga	0	not done		probablydamaging	
ARID1A		inserm.fr	GRCh37	1	27057997	27057997	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T									Valid												ENST00000324856.7:c.1705G>A	p.Ala569Thr	p.A569T	ENST00000324856	NM_006015.4	569	Gca/Aca	0	not done		benign	
FAM222B		inserm.fr	GRCh37	17	27086005	27086005	+	synonymous_variant	Silent	SNP	G	A	A			CHC793T																					ENST00000341217.5:c.972C>T	p.Val324=	p.V324=	ENST00000341217	NM_001288633.1	324	gtC/gtT	0	validated		synonymous	
HIST1H2AG		inserm.fr	GRCh37	6	27101109	27101109	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359193.2:c.259G>A	p.Ala87Thr	p.A87T	ENST00000359193	NM_021064.4	87	Gcc/Acc	0	not done		probablydamaging	
ARID1A		inserm.fr	GRCh37	1	27106640	27106640	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC320T									Valid												ENST00000324856.7:c.6251T>A	p.Val2084Asp	p.V2084D	ENST00000324856	NM_006015.4	2084	gTc/gAc	0	validated		probablydamaging	
IQSEC3		inserm.fr	GRCh37	12	271221	271221	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000538872.1:c.2573G>A	p.Gly858Asp	p.G858D	ENST00000538872		858	gGc/gAc	0	not done		probablydamaging	
XG		inserm.fr	GRCh37	X	2712645	2712645	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC1774T																					ENST00000419513.2:c.322+1G>A		p.X108_splice	ENST00000419513	NM_001141919.1			0	validated		damaging	
GABRA5		inserm.fr	GRCh37	15	27128687	27128687	+	synonymous_variant	Silent	SNP	C	A	A			CHC1192T																					ENST00000335625.5:c.480C>A	p.Thr160=	p.T160=	ENST00000335625	NM_000810.3	160	acC/acA	0	validated		synonymous	
HOXA2		inserm.fr	GRCh37	7	27140686	27140686	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM783T																					ENST00000222718.5:c.790G>T	p.Gly264Ter	p.G264*	ENST00000222718	NM_006735.3	264	Gga/Tga	0	validated		damaging	
TRIM35		inserm.fr	GRCh37	8	27145261	27145261	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC313T									Valid												ENST00000305364.4:c.1288G>T	p.Val430Leu	p.V430L	ENST00000305364	NM_171982.3	430	Gtg/Ttg	0	validated		possiblydamaging	
DPYSL5		inserm.fr	GRCh37	2	27147781	27147781	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000288699.6:c.288G>A	p.Met96Ile	p.M96I	ENST00000288699	NM_001253724.1	96	atG/atA	0	not done		possiblydamaging	
TRIM35		inserm.fr	GRCh37	8	27168480	27168480	+	synonymous_variant	Silent	SNP	G	A	A			CHC433T																					ENST00000305364.4:c.273C>T	p.Arg91=	p.R91=	ENST00000305364	NM_171982.3	91	cgC/cgT	0	validated		synonymous	
HOXA4		inserm.fr	GRCh37	7	27170188	27170188	+	synonymous_variant	Silent	SNP	C	A	A			BCM325T																					ENST00000360046.5:c.165G>T	p.Leu55=	p.L55=	ENST00000360046	NM_002141.4	55	ctG/ctT	0	validated		synonymous	
TEK		inserm.fr	GRCh37	9	27172648	27172648	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1044T																					ENST00000380036.4:c.663C>A	p.Asn221Lys	p.N221K	ENST00000380036	NM_000459.3	221	aaC/aaA	0	not done		benign	
HOXA5		inserm.fr	GRCh37	7	27182763	27182763	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000222726.3:c.464C>T	p.Ala155Val	p.A155V	ENST00000222726	NM_019102.3	155	gCc/gTc	0	not done		possiblydamaging	
ERAL1		inserm.fr	GRCh37	17	27184991	27184991	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000254928.5:c.524G>A	p.Gly175Asp	p.G175D	ENST00000254928	NM_005702.2	175	gGt/gAt	0	not done		benign	
HOXA7		inserm.fr	GRCh37	7	27195946	27195946	+	synonymous_variant	Silent	SNP	G	A	A			CHC322T																					ENST00000242159.3:c.219C>T	p.Gly73=	p.G73=	ENST00000242159	NM_006896.3	73	ggC/ggT	0	validated		synonymous	
TEK		inserm.fr	GRCh37	9	27205038	27205038	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1611T																					ENST00000380036.4:c.2339G>A	p.Arg780Lys	p.R780K	ENST00000380036	NM_000459.3	780	aGa/aAa	0	not done		probablydamaging	
FLOT2		inserm.fr	GRCh37	17	27209035	27209035	+	synonymous_variant	Silent	SNP	G	A	A			CHC889T																					ENST00000394908.4:c.711C>T	p.Ala237=	p.A237=	ENST00000394908	NM_004475.2	237	gcC/gcT	0	not done		synonymous	
PRSS16		inserm.fr	GRCh37	6	27215535	27215535	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1568T																					ENST00000230582.3:c.19C>A	p.Gln7Lys	p.Q7K	ENST00000230582	NM_005865.3	7	Cag/Aag	0	not done		benign	
PRSS16		inserm.fr	GRCh37	6	27220644	27220644	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2113T																					ENST00000230582.3:c.1066G>A	p.Ala356Thr	p.A356T	ENST00000230582	NM_005865.3	356	Gca/Aca	0	not done		possiblydamaging	
KDM8		inserm.fr	GRCh37	16	27231762	27231762	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1079T																					ENST00000441782.2:c.1156G>A	p.Ala386Thr	p.A386T	ENST00000441782	NM_001145348.1	386	Gct/Act	0	not done		possiblydamaging	
WASF3		inserm.fr	GRCh37	13	27250748	27250748	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000335327.5:c.603G>A	p.Arg201=	p.R201=	ENST00000335327	NM_006646.5	201	agG/agA	0	not done		synonymous	
PHF12		inserm.fr	GRCh37	17	27251168	27251168	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1742T																					ENST00000332830.4:c.474A>T	p.Glu158Asp	p.E158D	ENST00000332830	NM_001033561.1	158	gaA/gaT	0	not done		benign	
TMEM214		inserm.fr	GRCh37	2	27261072	27261072	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000238788.9:c.1211G>A	p.Arg404Lys	p.R404K	ENST00000238788	NM_017727.4	404	aGg/aAg	0	not done		possiblydamaging	
TMEM214		inserm.fr	GRCh37	2	27262905	27262905	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1568T																					ENST00000238788.9:c.1630G>A	p.Gly544Arg	p.G544R	ENST00000238788	NM_017727.4	544	Ggg/Agg	0	not done		benign	
POM121L2		inserm.fr	GRCh37	6	27277737	27277737	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2103T																					ENST00000444565.1:c.2213G>T	p.Trp738Leu	p.W738L	ENST00000444565	NM_033482.3	738	tGg/tTg	0	not done		benign	
EVX1		inserm.fr	GRCh37	7	27285621	27285621	+	synonymous_variant	Silent	SNP	C	A	A			CHC155T																					ENST00000496902.4:c.801C>A	p.Gly267=	p.G267=	ENST00000496902		267	ggC/ggA	0	validated		synonymous	
EQTN		inserm.fr	GRCh37	9	27296613	27296613	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	A	A			CHC798T																					ENST00000380032.3:c.200A>T	p.Gln67Leu	p.Q67L	ENST00000380032	NM_020641.2	67	cAa/cTa	0	validated		probablydamaging	
EBF4		inserm.fr	GRCh37	20	2730377	2730377	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1531T																					ENST00000380648.4:c.857G>A	p.Gly286Glu	p.G286E	ENST00000380648	NM_001110514.1	286	gGa/gAa	0	not done		probablydamaging	
SEZ6		inserm.fr	GRCh37	17	27308612	27308612	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000317338.12:c.501C>T	p.Gly167=	p.G167=	ENST00000317338		167	ggC/ggT	0	not done		synonymous	
SEZ6		inserm.fr	GRCh37	17	27308901	27308901	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000317338.12:c.212C>T	p.Pro71Leu	p.P71L	ENST00000317338		71	cCg/cTg	0	not done		probablydamaging	
CHRNA2		inserm.fr	GRCh37	8	27327294	27327294	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000407991.1:c.278C>T	p.Ala93Val	p.A93V	ENST00000407991	NM_000742.3	93	gCt/gTt	0	not done		possiblydamaging	
CHRNA2		inserm.fr	GRCh37	8	27327447	27327447	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000407991.1:c.125C>T	p.Ser42Phe	p.S42F	ENST00000407991	NM_000742.3	42	tCc/tTc	0	not done		benign	
GPR12		inserm.fr	GRCh37	13	27333864	27333864	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000405846.3:c.101C>T	p.Pro34Leu	p.P34L	ENST00000405846	NM_005288.3	34	cCt/cTt	0	not done		benign	
PREB		inserm.fr	GRCh37	2	27354676	27354676	+	synonymous_variant	Silent	SNP	G	A	A			CHC2206T																					ENST00000260643.2:c.1023C>T	p.Ala341=	p.A341=	ENST00000260643	NM_013388.4	341	gcC/gcT	0	not done		synonymous	
C2orf53		inserm.fr	GRCh37	2	27360773	27360773	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1085T																					ENST00000335524.3:c.425C>T	p.Pro142Leu	p.P142L	ENST00000335524	NM_178553.3	142	cCt/cTt	0	validated		benign	
C2orf53		inserm.fr	GRCh37	2	27360773	27360773	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1089T																					ENST00000335524.3:c.425C>T	p.Pro142Leu	p.P142L	ENST00000335524	NM_178553.3	142	cCt/cTt	0	validated		benign	
C2orf53		inserm.fr	GRCh37	2	27360924	27360924	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000335524.3:c.274C>T	p.Pro92Ser	p.P92S	ENST00000335524	NM_178553.3	92	Cca/Tca	0	not done		benign	
EPHX2		inserm.fr	GRCh37	8	27364412	27364412	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000521400.1:c.561G>A	p.Gly187=	p.G187=	ENST00000521400	NM_001979.5	187	ggG/ggA	0	not done		synonymous	
ZNF391		inserm.fr	GRCh37	6	27369196	27369196	+	synonymous_variant	Silent	SNP	C	A	A			CHC1743T																					ENST00000244576.4:c.1047C>A	p.Ile349=	p.I349=	ENST00000244576	NM_001076781.1	349	atC/atA	0	not done		synonymous	
LGR4		inserm.fr	GRCh37	11	27389758	27389758	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM711T																					ENST00000379214.4:c.2512G>T	p.Glu838Ter	p.E838*	ENST00000379214	NM_018490.2	838	Gaa/Taa	0	validated		damaging	
LGR4		inserm.fr	GRCh37	11	27401869	27401869	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1598T																					ENST00000379214.4:c.920G>T	p.Ser307Ile	p.S307I	ENST00000379214	NM_018490.2	307	aGc/aTc	0	not done		probablydamaging	
YME1L1		inserm.fr	GRCh37	10	27405227	27405227	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1743T																					ENST00000326799.3:c.1938G>T	p.Gln646His	p.Q646H	ENST00000326799	NM_139312.2	646	caG/caT	0	not done		probablydamaging	
AMZ1		inserm.fr	GRCh37	7	2742461	2742461	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000312371.4:c.410C>A	p.Ala137Asp	p.A137D	ENST00000312371	NM_133463.1	137	gCc/gAc	0	not done		possiblydamaging	
CACNA1C		inserm.fr	GRCh37	12	2742830	2742830	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1085T																					ENST00000347598.4:c.3924C>A	p.Phe1308Leu	p.F1308L	ENST00000347598	NM_199460.2	1308	ttC/ttA	0	validated		probablydamaging	
MYO18A		inserm.fr	GRCh37	17	27441092	27441092	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000527372.1:c.2535C>T	p.Asp845=	p.D845=	ENST00000527372	NM_078471.3	845	gaC/gaT	0	validated		synonymous	
SLC4A7		inserm.fr	GRCh37	3	27453187	27453187	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1211T																					ENST00000295736.5:c.1685A>T	p.Glu562Val	p.E562V	ENST00000295736	NM_003615.4	562	gAg/gTg	0	not done		possiblydamaging	
CAD		inserm.fr	GRCh37	2	27462285	27462285	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000264705.4:c.5340G>A	p.Lys1780=	p.K1780=	ENST00000264705	NM_004341.3	1780	aaG/aaA	0	not done		synonymous	
TNIP2		inserm.fr	GRCh37	4	2746470	2746470	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000315423.7:c.860C>T	p.Thr287Met	p.T287M	ENST00000315423	NM_024309.3	287	aCg/aTg	0	validated		benign	
IRX2		inserm.fr	GRCh37	5	2748637	2748637	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000382611.6:c.1185C>T	p.Tyr395=	p.Y395=	ENST00000382611	NM_001134222.1	395	taC/taT	0	not done		synonymous	
GTF3C1		inserm.fr	GRCh37	16	27497443	27497443	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC434T									Valid												ENST00000356183.4:c.3733C>T	p.Arg1245Cys	p.R1245C	ENST00000356183	NM_001520.3	1245	Cgc/Tgc	0	validated		probablydamaging	
ACBD5		inserm.fr	GRCh37	10	27504464	27504464	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1035T																					ENST00000396271.3:c.936G>T	p.Glu312Asp	p.E312D	ENST00000396271	NM_145698.3	312	gaG/gaT	0	validated		possiblydamaging	
SCARA3		inserm.fr	GRCh37	8	27528741	27528741	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC451T																					ENST00000301904.3:c.1694G>A	p.Gly565Glu	p.G565E	ENST00000301904	NM_016240.2	565	gGa/gAa	0	validated		probablydamaging	
UCN		inserm.fr	GRCh37	2	27530544	27530544	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM617T									Valid												ENST00000296099.2:c.220G>T	p.Gly74Trp	p.G74W	ENST00000296099	NM_003353.2	74	Ggg/Tgg	0	validated		probablydamaging	
GTF3C1		inserm.fr	GRCh37	16	27549144	27549144	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB231T									Valid												ENST00000356183.4:c.713A>T	p.His238Leu	p.H238L	ENST00000356183	NM_001520.3	238	cAc/cTc	0	validated		probablydamaging	
GTF3C2		inserm.fr	GRCh37	2	27550940	27550940	+	synonymous_variant	Silent	SNP	G	A	A			CHC322T																					ENST00000359541.2:c.2373C>T	p.Val791=	p.V791=	ENST00000359541		791	gtC/gtT	0	validated		synonymous	
GABRG3		inserm.fr	GRCh37	15	27572065	27572065	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1754T																					ENST00000333743.6:c.380G>A	p.Trp127Ter	p.W127*	ENST00000333743	NM_033223.4	127	tGg/tAg	0	not done		damaging	
NUFIP2		inserm.fr	GRCh37	17	27614701	27614701	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB167T									Valid												ENST00000225388.4:c.311G>T	p.Arg104Ile	p.R104I	ENST00000225388	NM_020772.2	104	aGa/aTa	0	validated		possiblydamaging	
WDTC1		inserm.fr	GRCh37	1	27618761	27618761	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1747T																					ENST00000361771.3:c.535G>A	p.Glu179Lys	p.E179K	ENST00000361771		179	Gag/Aag	0	not done		benign	
KIAA0556		inserm.fr	GRCh37	16	27689241	27689241	+	synonymous_variant	Silent	SNP	G	A	A			CHC2048T																					ENST00000261588.4:c.732G>A	p.Gly244=	p.G244=	ENST00000261588	NM_015202.2	244	ggG/ggA	0	not done		synonymous	
FCN3		inserm.fr	GRCh37	1	27701251	27701251	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC892T																					ENST00000270879.4:c.59G>T	p.Cys20Phe	p.C20F	ENST00000270879	NM_003665.2	20	tGc/tTc	0	not done		benign	
PTCHD3		inserm.fr	GRCh37	10	27703030	27703030	+	synonymous_variant	Silent	SNP	G	A	A			CHC314T																					ENST00000438700.3:c.150C>T	p.Pro50=	p.P50=	ENST00000438700	NM_001034842.3	50	ccC/ccT	0	validated		synonymous	
GNA12		inserm.fr	GRCh37	7	2771355	2771355	+	synonymous_variant	Silent	SNP	C	A	A			CHC197T																					ENST00000275364.3:c.606G>T	p.Leu202=	p.L202=	ENST00000275364	NM_007353.2	202	ctG/ctT	0	validated		synonymous	
GPR3		inserm.fr	GRCh37	1	27720390	27720390	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1182T																					ENST00000374024.3:c.88C>A	p.Pro30Thr	p.P30T	ENST00000374024	NM_005281.3	30	Ccc/Acc	0	not done		benign	
GPR3		inserm.fr	GRCh37	1	27720540	27720540	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2321T																					ENST00000374024.3:c.238G>A	p.Gly80Ser	p.G80S	ENST00000374024	NM_005281.3	80	Ggc/Agc	0	validated		probablydamaging	
CACNA1C		inserm.fr	GRCh37	12	2774033	2774033	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000347598.4:c.4419C>A	p.Cys1473Ter	p.C1473*	ENST00000347598	NM_199460.2	1473	tgC/tgA	0	not done		damaging	
EOMES		inserm.fr	GRCh37	3	27763105	27763105	+	synonymous_variant	Silent	SNP	G	A	A			CHC1591T																					ENST00000295743.4:c.681C>T	p.Gly227=	p.G227=	ENST00000295743	NM_005442.3	227	ggC/ggT	0	not done		synonymous	
DCAF8L2		inserm.fr	GRCh37	X	27765522	27765522	+	synonymous_variant	Silent	SNP	G	A	A			BCM769T																					ENST00000451261.2:c.510G>A	p.Ala170=	p.A170=	ENST00000451261	NM_001136533.1	170	gcG/gcA	0	validated		synonymous	
HIST1H2AI		inserm.fr	GRCh37	6	27776368	27776368	+	synonymous_variant	Silent	SNP	G	A	A			CHC302T																					ENST00000358739.3:c.381G>A	p.Ala127=	p.A127=	ENST00000358739	NM_003509.2	127	gcG/gcA	0	validated		synonymous	
SMCHD1		inserm.fr	GRCh37	18	2778187	2778187	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2052T																					ENST00000320876.6:c.5497G>A	p.Asp1833Asn	p.D1833N	ENST00000320876	NM_015295.2	1833	Gac/Aac	0	not done		probablydamaging	
KIAA0556		inserm.fr	GRCh37	16	27786304	27786304	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000261588.4:c.4348G>A	p.Gly1450Ser	p.G1450S	ENST00000261588	NM_015202.2	1450	Ggt/Agt	0	not done		probablydamaging	
KIAA0556		inserm.fr	GRCh37	16	27789267	27789267	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000261588.4:c.4778G>A	p.Arg1593Gln	p.R1593Q	ENST00000261588	NM_015202.2	1593	cGg/cAg	0	not done		possiblydamaging	
HIST1H4J		inserm.fr	GRCh37	6	27792077	27792077	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T									Valid												ENST00000355057.1:c.175C>A	p.Leu59Met	p.L59M	ENST00000355057	NM_021968.3	59	Ctg/Atg	0	validated		probablydamaging	
RAB18		inserm.fr	GRCh37	10	27820538	27820538	+	intron_variant	Intron	SNP	G	A	A			BCM723T																					ENST00000356940.6:c.187-898G>A		*63*	ENST00000356940	NM_001256410.1			0	validated		damaging	
ZNF512		inserm.fr	GRCh37	2	27822508	27822508	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1209T																					ENST00000355467.4:c.336C>A	p.Asp112Glu	p.D112E	ENST00000355467	NM_001271289.1	112	gaC/gaA	0	not done		probablydamaging	
RPL21		inserm.fr	GRCh37	13	27830465	27830465	+	synonymous_variant	Silent	SNP	G	A	A			CHC1035T																					ENST00000311549.6:c.387G>A	p.Lys129=	p.K129=	ENST00000311549	NM_000982.3	129	aaG/aaA	0	validated		synonymous	
PPFIBP1		inserm.fr	GRCh37	12	27834549	27834549	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000318304.8:c.1984G>A	p.Gly662Ser	p.G662S	ENST00000318304	NM_177444.2	662	Ggc/Agc	0	not done		probablydamaging	
HIST1H3I		inserm.fr	GRCh37	6	27839960	27839960	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC879T																					ENST00000328488.2:c.134G>T	p.Gly45Val	p.G45V	ENST00000328488	NM_003533.2	45	gGc/gTc	0	not done		benign	
HIST1H3I		inserm.fr	GRCh37	6	27839985	27839985	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1044T																					ENST00000328488.2:c.109A>T	p.Lys37Ter	p.K37*	ENST00000328488	NM_003533.2	37	Aag/Tag	0	not done		damaging	
RASL11A		inserm.fr	GRCh37	13	27847382	27847382	+	synonymous_variant	Silent	SNP	G	A	A			CHC1191T																					ENST00000241463.4:c.480G>A	p.Gln160=	p.Q160=	ENST00000241463	NM_206827.1	160	caG/caA	0	not done		synonymous	
GPN1		inserm.fr	GRCh37	2	27851987	27851987	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1209T																					ENST00000264718.3:c.104G>A	p.Cys35Tyr	p.C35Y	ENST00000264718		35	tGt/tAt	0	not done		probablydamaging	
CYYR1		inserm.fr	GRCh37	21	27852683	27852683	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2052T																					ENST00000299340.4:c.242C>T	p.Ala81Val	p.A81V	ENST00000299340	NM_052954.2	81	gCc/gTc	0	not done		probablydamaging	
HIST1H2AM		inserm.fr	GRCh37	6	27860796	27860796	+	synonymous_variant	Silent	SNP	G	A	A			CHC1763T																					ENST00000359611.2:c.132C>T	p.Val44=	p.V44=	ENST00000359611	NM_003514.2	44	gtC/gtT	0	not done		synonymous	
AHDC1		inserm.fr	GRCh37	1	27876566	27876566	+	synonymous_variant	Silent	SNP	G	A	A			BCM339T																					ENST00000374011.2:c.2061C>T	p.Ala687=	p.A687=	ENST00000374011	NM_001029882.2	687	gcC/gcT	0	validated		synonymous	
OR2B2		inserm.fr	GRCh37	6	27880036	27880036	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000303324.2:c.62C>T	p.Pro21Leu	p.P21L	ENST00000303324	NM_033057.2	21	cCa/cTa	0	not done		probablydamaging	
GIT1		inserm.fr	GRCh37	17	27909821	27909821	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			BCM339T																					ENST00000394869.3:c.300C>T	p.His100=	p.H100=	ENST00000394869	NM_001085454.1	100	caC/caT	0	validated		damaging	
CACNA1C		inserm.fr	GRCh37	12	2791207	2791207	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000347598.4:c.5589-509G>A		*1863*	ENST00000347598	NM_199460.2			0	not done		benign	
KLHL42		inserm.fr	GRCh37	12	27933407	27933407	+	synonymous_variant	Silent	SNP	C	A	A			CHC1712T																					ENST00000381271.2:c.144C>A	p.Gly48=	p.G48=	ENST00000381271	NM_020782.1	48	ggC/ggA	0	not done		synonymous	
FGR		inserm.fr	GRCh37	1	27939788	27939788	+	synonymous_variant	Silent	SNP	C	A	A			CHC1746T																					ENST00000374005.3:c.1323G>T	p.Val441=	p.V441=	ENST00000374005	NM_005248.2	441	gtG/gtT	0	not done		synonymous	
ANKRD13B		inserm.fr	GRCh37	17	27940448	27940448	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000394859.3:c.1729G>A	p.Gly577Ser	p.G577S	ENST00000394859	NM_152345.4	577	Ggt/Agt	0	not done		benign	
CORO6		inserm.fr	GRCh37	17	27949773	27949773	+	5_prime_UTR_variant	5'UTR	SNP	G	A	A			CHC892T																					ENST00000345068.5:c.-70C>T		*24*	ENST00000345068				0	not done		synonymous	
LINGO2		inserm.fr	GRCh37	9	27950308	27950308	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM337T																					ENST00000379992.2:c.362C>T	p.Pro121Leu	p.P121L	ENST00000379992	NM_152570.2	121	cCt/cTt	0	validated		probablydamaging	
MRPL33		inserm.fr	GRCh37	2	28002353	28002353	+	3_prime_UTR_variant	3'UTR	SNP	G	A	A			BCM439T																					ENST00000296102.3:c.*4G>A		*2*	ENST00000296102	NM_004891.3			0	validated			
ELP3		inserm.fr	GRCh37	8	28017759	28017759	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000256398.8:c.1271G>A	p.Arg424Lys	p.R424K	ENST00000256398	NM_018091.5	424	aGg/aAg	0	not done		possiblydamaging	
JAZF1		inserm.fr	GRCh37	7	28031588	28031588	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1732T																					ENST00000283928.5:c.128G>T	p.Arg43Leu	p.R43L	ENST00000283928	NM_175061.3	43	cGg/cTg	0	not done		possiblydamaging	
ELP3		inserm.fr	GRCh37	8	28047218	28047218	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000256398.8:c.1620G>A	p.Pro540=	p.P540=	ENST00000256398	NM_018091.5	540	ccG/ccA	0	not done		synonymous	
ZNF165		inserm.fr	GRCh37	6	28053647	28053647	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM483T																					ENST00000377325.1:c.389G>A	p.Gly130Asp	p.G130D	ENST00000377325	NM_003447.3	130	gGc/gAc	0	validated		probablydamaging	
ZNF165		inserm.fr	GRCh37	6	28056758	28056758	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC314T																					ENST00000377325.1:c.968G>A	p.Gly323Glu	p.G323E	ENST00000377325	NM_003447.3	323	gGa/gAa	0	validated		benign	
SRRM2		inserm.fr	GRCh37	16	2807549	2807549	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000301740.8:c.319G>A	p.Gly107Ser	p.G107S	ENST00000301740	NM_016333.3	107	Ggc/Agc	0	not done		benign	
KIAA0020		inserm.fr	GRCh37	9	2807882	2807882	+	synonymous_variant	Silent	SNP	T	A	A			CHC2052T																					ENST00000397885.2:c.1746A>T	p.Val582=	p.V582=	ENST00000397885	NM_014878.4	582	gtA/gtT	0	not done		synonymous	
ZKSCAN8		inserm.fr	GRCh37	6	28116263	28116263	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000330236.6:c.78G>A	p.Lys26=	p.K26=	ENST00000330236	NM_001278122.1	26	aaG/aaA	0	not done		synonymous	
THOP1		inserm.fr	GRCh37	19	2811699	2811699	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000307741.6:c.1875G>A	p.Thr625=	p.T625=	ENST00000307741	NM_003249.3	625	acG/acA	0	not done		synonymous	
ZKSCAN8		inserm.fr	GRCh37	6	28120860	28120860	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1556T																					ENST00000330236.6:c.802G>A	p.Glu268Lys	p.E268K	ENST00000330236	NM_001278122.1	268	Gaa/Aaa	0	not done		possiblydamaging	
CSMD1		inserm.fr	GRCh37	8	2813173	2813173	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000537824.1:c.9932G>T	p.Gly3311Val	p.G3311V	ENST00000537824	NM_033225.5	3311	gGa/gTa	0	not done		probablydamaging	
CSMD1		inserm.fr	GRCh37	8	2813183	2813183	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM337T																					ENST00000537824.1:c.9922C>T	p.Leu3308Phe	p.L3308F	ENST00000537824	NM_033225.5	3308	Ctc/Ttc	0	validated		probablydamaging	
THOP1		inserm.fr	GRCh37	19	2813226	2813226	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC912T																					ENST00000307741.6:c.2022C>A	p.Ser674Arg	p.S674R	ENST00000307741	NM_003249.3	674	agC/agA	0	validated		probablydamaging	
NLRP6		inserm.fr	GRCh37	11	281330	281330	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000312165.5:c.1596G>A	p.Gly532=	p.G532=	ENST00000312165	NM_001276700.1	532	ggG/ggA	0	not done		synonymous	
SRRM2		inserm.fr	GRCh37	16	2816276	2816276	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000301740.8:c.5747C>A	p.Ser1916Tyr	p.S1916Y	ENST00000301740	NM_016333.3	1916	tCc/tAc	0	not done		probablydamaging	
MN1		inserm.fr	GRCh37	22	28196290	28196290	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC794T									Valid												ENST00000302326.4:c.242G>T	p.Gly81Val	p.G81V	ENST00000302326	NM_002430.2	81	gGg/gTg	0	validated		probablydamaging	
OCA2		inserm.fr	GRCh37	15	28196996	28196996	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1751T																					ENST00000354638.3:c.1885G>T	p.Val629Leu	p.V629L	ENST00000354638	NM_000275.2	629	Gtg/Ttg	0	not done		probablydamaging	
CSMD1		inserm.fr	GRCh37	8	2820047	2820047	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM783T																					ENST00000537824.1:c.9569C>T	p.Ser3190Phe	p.S3190F	ENST00000537824	NM_033225.5	3190	tCc/tTc	0	validated		probablydamaging	
ZKSCAN4		inserm.fr	GRCh37	6	28219569	28219569	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000377294.2:c.190G>T	p.Ala64Ser	p.A64S	ENST00000377294	NM_019110.3	64	Gct/Tct	0	not done		probablydamaging	
PPAP2C		inserm.fr	GRCh37	19	282237	282237	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000327790.3:c.677C>T	p.Ala226Val	p.A226V	ENST00000327790	NM_177543.2	226	gCc/gTc	0	not done		possiblydamaging	
NKAPL		inserm.fr	GRCh37	6	28227407	28227407	+	synonymous_variant	Silent	SNP	C	A	A			CHC451T																					ENST00000343684.3:c.258C>A	p.Ser86=	p.S86=	ENST00000343684	NM_001007531.2	86	tcC/tcA	0	not done		synonymous	
NKAPL		inserm.fr	GRCh37	6	28228309	28228309	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC798T									Valid												ENST00000343684.3:c.1160G>A	p.Ser387Asn	p.S387N	ENST00000343684	NM_001007531.2	387	aGt/aAt	0	validated		probablydamaging	
OCA2		inserm.fr	GRCh37	15	28231743	28231743	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2052T																					ENST00000354638.3:c.1229G>T	p.Cys410Phe	p.C410F	ENST00000354638	NM_000275.2	410	tGt/tTt	0	not done		possiblydamaging	
METTL15		inserm.fr	GRCh37	11	28232641	28232641	+	synonymous_variant	Silent	SNP	G	A	A			CHC1534T																					ENST00000407364.3:c.303G>A	p.Gly101=	p.G101=	ENST00000407364		101	ggG/ggA	0	validated		synonymous	
ZNF187		inserm.fr	GRCh37	6	28240032	28240032	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000421553.2:n.603G>A		*201*	ENST00000421553				0	not done			
CSMD1		inserm.fr	GRCh37	8	2824169	2824169	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2052T																					ENST00000537824.1:c.9023G>T	p.Gly3008Val	p.G3008V	ENST00000537824	NM_033225.5	3008	gGc/gTc	0	not done		probablydamaging	
PGBD1		inserm.fr	GRCh37	6	28251984	28251984	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			BCM483T									Valid												ENST00000405948.2:c.394C>A	p.Gln132Lys	p.Q132K	ENST00000405948	NM_001184743.1	132	Cag/Aag	0	validated		probablydamaging	
ADAMTS5		inserm.fr	GRCh37	21	28306974	28306974	+	synonymous_variant	Silent	SNP	T	A	A			CHC1738T																					ENST00000284987.5:c.1500A>T	p.Thr500=	p.T500=	ENST00000284987	NM_007038.3	500	acA/acT	0	not done		synonymous	
OCA2		inserm.fr	GRCh37	15	28326979	28326979	+	synonymous_variant	Silent	SNP	C	A	A			CHC1065T																					ENST00000354638.3:c.42G>T	p.Ala14=	p.A14=	ENST00000354638	NM_000275.2	14	gcG/gcT	0	validated		synonymous	
SERPINB1		inserm.fr	GRCh37	6	2833895	2833895	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB109T									Valid												ENST00000380739.5:c.1087C>T	p.Arg363Trp	p.R363W	ENST00000380739	NM_030666.3	363	Cgg/Tgg	0	validated		probablydamaging	
EYA3		inserm.fr	GRCh37	1	28339635	28339635	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1566T																					ENST00000373871.3:c.756G>T	p.Gln252His	p.Q252H	ENST00000373871		252	caG/caT	0	validated		probablydamaging	
EFCAB5		inserm.fr	GRCh37	17	28361360	28361360	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000394835.3:c.1157G>A	p.Arg386Lys	p.R386K	ENST00000394835	NM_198529.3	386	aGg/aAg	0	not done		probablydamaging	
GSX1		inserm.fr	GRCh37	13	28367727	28367727	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000302945.2:c.437G>A	p.Ser146Asn	p.S146N	ENST00000302945	NM_145657.1	146	aGc/aAc	0	not done		probablydamaging	
FZD3		inserm.fr	GRCh37	8	28385617	28385617	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC433T																					ENST00000240093.3:c.1340G>A	p.Gly447Asp	p.G447D	ENST00000240093	NM_017412.3	447	gGc/gAc	0	validated		benign	
HERC2		inserm.fr	GRCh37	15	28386655	28386655	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1209T																					ENST00000261609.7:c.11938G>T	p.Glu3980Ter	p.E3980*	ENST00000261609	NM_004667.5	3980	Gaa/Taa	0	not done		damaging	
TTC28		inserm.fr	GRCh37	22	28394997	28394997	+	synonymous_variant	Silent	SNP	G	A	A			CHC2112T																					ENST00000397906.2:c.4650C>T	p.Ser1550=	p.S1550=	ENST00000397906	NM_001145418.1	1550	tcC/tcT	0	not done		synonymous	
HERC2		inserm.fr	GRCh37	15	28397926	28397926	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000261609.7:c.10797C>T	p.Ala3599=	p.A3599=	ENST00000261609	NM_004667.5	3599	gcC/gcT	0	not done		synonymous	
HERC2		inserm.fr	GRCh37	15	28424169	28424169	+	synonymous_variant	Silent	SNP	C	A	A			CHC1040T																					ENST00000261609.7:c.9027G>T	p.Val3009=	p.V3009=	ENST00000261609	NM_004667.5	3009	gtG/gtT	0	not done		synonymous	
ZFY		inserm.fr	GRCh37	Y	2843195	2843195	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1715T																					ENST00000155093.3:c.694T>A	p.Ser232Thr	p.S232T	ENST00000155093	NM_003411.3	232	Tca/Aca	0	not done		benign	
VPS16		inserm.fr	GRCh37	20	2845793	2845793	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000380393.3:c.-298-1G>A		p.X100_splice	ENST00000380393	NM_002836.3			0	not done		damaging	
GPX6		inserm.fr	GRCh37	6	28478542	28478542	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000361902.1:c.227C>T	p.Ala76Val	p.A76V	ENST00000361902	NM_182701.1	76	gCa/gTa	0	not done		benign	
HERC2		inserm.fr	GRCh37	15	28483894	28483894	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1061T																					ENST00000261609.7:c.3602G>T	p.Cys1201Phe	p.C1201F	ENST00000261609	NM_004667.5	1201	tGt/tTt	0	validated		probablydamaging	
TTC28		inserm.fr	GRCh37	22	28490150	28490150	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM439T																					ENST00000397906.2:c.3850C>T	p.Leu1284Phe	p.L1284F	ENST00000397906	NM_001145418.1	1284	Ctt/Ttt	0	validated		benign	
PRSS41		inserm.fr	GRCh37	16	2849017	2849017	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			BCM723T									Valid												ENST00000399677.1:n.188G>A		*63*	ENST00000399677				0	validated		possiblydamaging	
TTC28		inserm.fr	GRCh37	22	28501655	28501655	+	synonymous_variant	Silent	SNP	G	A	A			CHC097T																					ENST00000397906.2:c.2919C>T	p.Tyr973=	p.Y973=	ENST00000397906	NM_001145418.1	973	taC/taT	0	not done		synonymous	
APOBR		inserm.fr	GRCh37	16	28507695	28507695	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2351T																					ENST00000564831.1:c.1333G>A	p.Ala445Thr	p.A445T	ENST00000564831	NM_018690.3	445	Gca/Aca	0	not done		possiblydamaging	
HERC2		inserm.fr	GRCh37	15	28517492	28517492	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC923T																					ENST00000261609.7:c.952G>T	p.Asp318Tyr	p.D318Y	ENST00000261609	NM_004667.5	318	Gac/Tac	0	not done		possiblydamaging	
ATP5EP2		inserm.fr	GRCh37	13	28519419	28519419	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1744T																					ENST00000381026.3:c.23C>A	p.Ala8Asp	p.A8D	ENST00000381026		8	gCt/gAt	0	not done			
HERC2		inserm.fr	GRCh37	15	28520137	28520137	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000261609.7:c.557G>T	p.Gly186Val	p.G186V	ENST00000261609	NM_004667.5	186	gGc/gTc	0	not done		possiblydamaging	
BRE		inserm.fr	GRCh37	2	28532969	28532969	+	intron_variant	Intron	SNP	G	A	A			CHC912T																					ENST00000344773.2:c.1088+11611G>A		*363*	ENST00000344773	NM_004899.4			0	validated			
SCAND3		inserm.fr	GRCh37	6	28540650	28540650	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC155T									Valid												ENST00000452236.2:c.3016C>T	p.Leu1006Phe	p.L1006F	ENST00000452236	NM_052923.1	1006	Ctt/Ttt	0	validated		probablydamaging	
SULT1A2		inserm.fr	GRCh37	16	28603712	28603712	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2110Tbis																					ENST00000395630.1:c.647C>T	p.Pro216Leu	p.P216L	ENST00000395630	NM_177528.2	216	cCa/cTa	0	not done		probablydamaging	
DSC1		inserm.fr	GRCh37	18	28711657	28711657	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1749T																					ENST00000257198.5:c.2387G>T	p.Gly796Val	p.G796V	ENST00000257198	NM_024421.2	796	gGa/gTa	0	not done		probablydamaging	
EIF3C		inserm.fr	GRCh37	16	28734616	28734616	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1035T																					ENST00000331666.6:c.908G>A	p.Arg303Lys	p.R303K	ENST00000331666		303	aGg/aAg	0	validated		benign	
CPD		inserm.fr	GRCh37	17	28749746	28749746	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000225719.4:c.1362G>A	p.Glu454=	p.E454=	ENST00000225719	NM_001304.4	454	gaG/gaA	0	not done		synonymous	
ZNF556		inserm.fr	GRCh37	19	2877512	2877512	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC097T																					ENST00000307635.2:c.556C>A	p.Arg186Ser	p.R186S	ENST00000307635	NM_024967.1	186	Cgc/Agc	0	not done		benign	
ZNF556		inserm.fr	GRCh37	19	2877955	2877955	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1745T																					ENST00000307635.2:c.999C>A	p.His333Gln	p.H333Q	ENST00000307635	NM_024967.1	333	caC/caA	0	not done		probablydamaging	
ZG16B		inserm.fr	GRCh37	16	2880445	2880445	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC303T									Valid												ENST00000382280.3:c.111G>A	p.Met37Ile	p.M37I	ENST00000382280	NM_145252.2	37	atG/atA	0	validated		probablydamaging	
PLB1		inserm.fr	GRCh37	2	28804988	28804988	+	synonymous_variant	Silent	SNP	C	A	A			CHC326T																					ENST00000327757.5:c.1620C>A	p.Ile540=	p.I540=	ENST00000327757	NM_153021.4	540	atC/atA	0	validated		synonymous	
PLB1		inserm.fr	GRCh37	2	28843476	28843476	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000327757.5:c.3393G>A	p.Gly1131=	p.G1131=	ENST00000327757	NM_153021.4	1131	ggG/ggA	0	not done		synonymous	
PAN3		inserm.fr	GRCh37	13	28844994	28844994	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1028T																					ENST00000380958.3:c.1949G>A	p.Gly650Asp	p.G650D	ENST00000380958	NM_175854.7	650	gGc/gAc	0	not done		benign	
ATXN2L		inserm.fr	GRCh37	16	28846950	28846950	+	synonymous_variant	Silent	SNP	G	A	A			BCM529T																					ENST00000395547.2:c.2766G>A	p.Thr922=	p.T922=	ENST00000395547	NM_148414.2	922	acG/acA	0	validated		synonymous	
CREB5		inserm.fr	GRCh37	7	28848941	28848941	+	synonymous_variant	Silent	SNP	T	A	A			BCM545T																					ENST00000357727.2:c.1164T>A	p.Ala388=	p.A388=	ENST00000357727	NM_182898.2	388	gcT/gcA	0	validated		synonymous	
WAC		inserm.fr	GRCh37	10	28872427	28872427	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM695T																					ENST00000354911.4:c.374C>A	p.Ser125Ter	p.S125*	ENST00000354911	NM_016628.4	125	tCa/tAa	0	validated		damaging	
SH2B1		inserm.fr	GRCh37	16	28878220	28878220	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000322610.8:c.805G>A	p.Gly269Ser	p.G269S	ENST00000322610		269	Ggc/Agc	0	not done		probablydamaging	
SH2B1		inserm.fr	GRCh37	16	28884847	28884847	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000322610.8:c.1977G>A	p.Glu659=	p.E659=	ENST00000322610		659	gaG/gaA	0	not done		synonymous	
AC006050.2		inserm.fr	GRCh37	17	28903027	28903027	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000436477.2:n.992C>T		*331*	ENST00000436477				0	not done		synonymous	
SERPINB9		inserm.fr	GRCh37	6	2890794	2890794	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC793T									Valid												ENST00000380698.4:c.734G>T	p.Ser245Ile	p.S245I	ENST00000380698	NM_004155.5	245	aGt/aTt	0	validated		benign	
ATP2A1		inserm.fr	GRCh37	16	28912088	28912088	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC884T																					ENST00000357084.3:c.1951C>A	p.Arg651Ser	p.R651S	ENST00000357084	NM_173201.3	651	Cgc/Agc	0	validated		benign	
FLT1		inserm.fr	GRCh37	13	28919631	28919631	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000282397.4:c.2306C>T	p.Ala769Val	p.A769V	ENST00000282397	NM_002019.4	769	gCg/gTg	0	validated		probablydamaging	
RABEP2		inserm.fr	GRCh37	16	28931167	28931167	+	synonymous_variant	Silent	SNP	G	A	A			BCM275T																					ENST00000358201.4:c.372C>T	p.Arg124=	p.R124=	ENST00000358201	NM_024816.2	124	cgC/cgT	0	validated		synonymous	
RABEP2		inserm.fr	GRCh37	16	28931168	28931168	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM275T									Valid												ENST00000358201.4:c.371G>T	p.Arg124Leu	p.R124L	ENST00000358201	NM_024816.2	124	cGc/cTc	0	validated		possiblydamaging	
ZNF311		inserm.fr	GRCh37	6	28962841	28962841	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2052T																					ENST00000377179.3:c.1938G>T	p.Arg646Ser	p.R646S	ENST00000377179	NM_001010877.2	646	agG/agT	0	not done		benign	
ADD1		inserm.fr	GRCh37	4	2896453	2896453	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000264758.7:c.736G>A	p.Ala246Thr	p.A246T	ENST00000264758	NM_014189.3	246	Gct/Act	0	not done		benign	
DSG4		inserm.fr	GRCh37	18	28972268	28972268	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1148T																					ENST00000359747.4:c.970C>A	p.Pro324Thr	p.P324T	ENST00000359747	NM_001134453.1	324	Cca/Aca	0	not done		probablydamaging	
SPNS1		inserm.fr	GRCh37	16	28986814	28986814	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	A	A			BCM783T																					ENST00000311008.11:c.243C>A	p.Gly81=	p.G81=	ENST00000311008	NM_032038.2	81	ggC/ggA	0	validated		damaging	
SPNS1		inserm.fr	GRCh37	16	28990504	28990504	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000311008.11:c.473G>A	p.Gly158Asp	p.G158D	ENST00000311008	NM_032038.2	158	gGc/gAc	0	not done		benign	
SPNS1		inserm.fr	GRCh37	16	28995600	28995600	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB231T																					ENST00000311008.11:c.1567G>A	p.Val523Met	p.V523M	ENST00000311008	NM_032038.2	523	Gtg/Atg	0	validated		probablydamaging	
TRIL		inserm.fr	GRCh37	7	28995827	28995827	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000322982.3:n.2108C>T		*703*	ENST00000322982				0	not done			
TRIL		inserm.fr	GRCh37	7	28996443	28996443	+	non_coding_transcript_exon_variant	RNA	SNP	T	A	A			BCB307T																					ENST00000322982.3:n.1492A>T		*498*	ENST00000322982				0	validated		benign	
GMEB1		inserm.fr	GRCh37	1	29016656	29016656	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000294409.2:c.199G>A	p.Ala67Thr	p.A67T	ENST00000294409	NM_006582.3	67	Gca/Aca	0	not done		possiblydamaging	
PRSS22		inserm.fr	GRCh37	16	2905689	2905689	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1743T																					ENST00000161006.3:c.445C>T	p.Arg149Cys	p.R149C	ENST00000161006	NM_022119.3	149	Cgc/Tgc	0	not done		probablydamaging	
PRSS22		inserm.fr	GRCh37	16	2908079	2908079	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000161006.3:c.27C>T	p.Ala9=	p.A9=	ENST00000161006	NM_022119.3	9	gcC/gcT	0	not done		synonymous	
TRMT61B		inserm.fr	GRCh37	2	29092826	29092826	+	synonymous_variant	Silent	SNP	G	A	A			CHC879T																					ENST00000306108.5:c.318C>T	p.Ser106=	p.S106=	ENST00000306108	NM_017910.3	106	agC/agT	0	not done		synonymous	
HSCB		inserm.fr	GRCh37	22	29138144	29138144	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1591T																					ENST00000216027.3:c.61C>A	p.Pro21Thr	p.P21T	ENST00000216027	NM_172002.3	21	Ccc/Acc	0	not done		benign	
OPRD1		inserm.fr	GRCh37	1	29139051	29139051	+	synonymous_variant	Silent	SNP	C	A	A			CHC322T																					ENST00000234961.2:c.156C>A	p.Ile52=	p.I52=	ENST00000234961	NM_000911.3	52	atC/atA	0	validated		synonymous	
ATAD5		inserm.fr	GRCh37	17	29159381	29159381	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000321990.4:c.16G>A	p.Ala6Thr	p.A6T	ENST00000321990	NM_024857.3	6	Gcc/Acc	0	not done		benign	
OPRD1		inserm.fr	GRCh37	1	29189594	29189594	+	synonymous_variant	Silent	SNP	G	A	A			BCM711T																					ENST00000234961.2:c.918G>A	p.Leu306=	p.L306=	ENST00000234961	NM_000911.3	306	ctG/ctA	0	validated		synonymous	
DUSP4		inserm.fr	GRCh37	8	29207715	29207715	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000240100.2:c.81C>T	p.Gly27=	p.G27=	ENST00000240100	NM_001394.6	27	ggC/ggT	0	not done		synonymous	
FAM179A		inserm.fr	GRCh37	2	29234346	29234346	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000379558.4:c.856G>A	p.Glu286Lys	p.E286K	ENST00000379558	NM_199280.2	286	Gag/Aag	0	not done		probablydamaging	
RAP1GAP2		inserm.fr	GRCh37	17	2923841	2923841	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC892T																					ENST00000254695.8:c.1703C>A	p.Pro568His	p.P568H	ENST00000254695	NM_015085.4	568	cCc/cAc	0	not done		probablydamaging	
C14orf23		inserm.fr	GRCh37	14	29261205	29261205	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM257T																					ENST00000399387.4:c.242C>A	p.Ser81Ter	p.S81*	ENST00000399387		81	tCa/tAa	0	validated		damaging	
FAM179A		inserm.fr	GRCh37	2	29274740	29274740	+	synonymous_variant	Silent	SNP	G	A	A			CHC1191T																					ENST00000379558.4:c.2841G>A	p.Gly947=	p.G947=	ENST00000379558	NM_199280.2	947	ggG/ggA	0	not done		synonymous	
FAM179A		inserm.fr	GRCh37	2	29274753	29274753	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000379558.4:c.2854G>A	p.Val952Met	p.V952M	ENST00000379558	NM_199280.2	952	Gtg/Atg	0	not done		probablydamaging	
C2orf71		inserm.fr	GRCh37	2	29287758	29287758	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000331664.5:c.3844C>T	p.Pro1282Ser	p.P1282S	ENST00000331664	NM_001029883.2	1282	Ccc/Tcc	0	not done		probablydamaging	
C2orf71		inserm.fr	GRCh37	2	29295244	29295244	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000331664.5:c.1884C>T	p.Ala628=	p.A628=	ENST00000331664	NM_001029883.2	628	gcC/gcT	0	not done		synonymous	
RNF135		inserm.fr	GRCh37	17	29298252	29298252	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000328381.5:c.161C>A	p.Ala54Asp	p.A54D	ENST00000328381	NM_032322.3	54	gCc/gAc	0	not done		benign	
ZNF77		inserm.fr	GRCh37	19	2934199	2934199	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1720T																					ENST00000314531.4:c.926C>T	p.Ser309Phe	p.S309F	ENST00000314531	NM_021217.2	309	tCc/tTc	0	not done		possiblydamaging	
APBA2		inserm.fr	GRCh37	15	29386493	29386493	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000558402.1:c.1228G>A	p.Ala410Thr	p.A410T	ENST00000558402		410	Gct/Act	0	not done		benign	
CLIP4		inserm.fr	GRCh37	2	29386704	29386704	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000320081.5:c.1542G>A	p.Trp514Ter	p.W514*	ENST00000320081	NM_024692.4	514	tgG/tgA	0	not done		damaging	
SLC22A18		inserm.fr	GRCh37	11	2939269	2939269	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000380574.1:c.707G>A	p.Arg236Gln	p.R236Q	ENST00000380574		236	cGg/cAg	0	not done		benign	
OR11A1		inserm.fr	GRCh37	6	29394925	29394925	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T																					ENST00000377149.1:c.494C>T	p.Ala165Val	p.A165V	ENST00000377149		165	gCc/gTc	0	validated		benign	
APBA2		inserm.fr	GRCh37	15	29398928	29398928	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1065T									Valid												ENST00000558402.1:c.1823G>A	p.Arg608His	p.R608H	ENST00000558402		608	cGc/cAc	0	validated		probablydamaging	
OR10C1		inserm.fr	GRCh37	6	29408347	29408347	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000444197.2:c.555G>A	p.Gln185=	p.Q185=	ENST00000444197	NM_013941.3	185	caG/caA	0	not done		synonymous	
TRAPPC8		inserm.fr	GRCh37	18	29429677	29429677	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000283351.4:c.3587C>T	p.Ala1196Val	p.A1196V	ENST00000283351	NM_014939.3	1196	gCa/gTa	0	not done		benign	
OR2H1		inserm.fr	GRCh37	6	29429863	29429863	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000377136.1:c.317G>A	p.Gly106Glu	p.G106E	ENST00000377136		106	gGg/gAg	0	not done		probablydamaging	
OR2H1		inserm.fr	GRCh37	6	29430270	29430270	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1744T																					ENST00000377136.1:c.724C>A	p.His242Asn	p.H242N	ENST00000377136		242	Cat/Aat	0	not done		probablydamaging	
EPB41		inserm.fr	GRCh37	1	29438913	29438913	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1209T																					ENST00000343067.4:c.2449G>A	p.Glu817Lys	p.E817K	ENST00000343067	NM_001166005.1	817	Gaa/Aaa	0	not done		probablydamaging	
NRIP2		inserm.fr	GRCh37	12	2944011	2944011	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000337508.4:c.139C>T	p.Pro47Ser	p.P47S	ENST00000337508	NM_031474.2	47	Cca/Tca	0	not done		benign	
EPB41		inserm.fr	GRCh37	1	29442283	29442283	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000343067.4:c.2569C>A	p.Gln857Lys	p.Q857K	ENST00000343067	NM_001166005.1	857	Cag/Aag	0	not done		possiblydamaging	
ZNRF3		inserm.fr	GRCh37	22	29444461	29444461	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC322T									Valid												ENST00000544604.2:c.997T>A	p.Cys333Ser	p.C333S	ENST00000544604	NM_001206998.1	333	Tgt/Agt	0	validated		probablydamaging	
ALK		inserm.fr	GRCh37	2	29474047	29474047	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000389048.3:c.2128C>T	p.Leu710=	p.L710=	ENST00000389048	NM_004304.4	710	Ctg/Ttg	0	not done		synonymous	
SRSF4		inserm.fr	GRCh37	1	29481412	29481412	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1052T									Valid												ENST00000373795.4:c.374G>T	p.Arg125Leu	p.R125L	ENST00000373795	NM_005626.4	125	cGt/cTt	0	validated		probablydamaging	
TRAPPC8		inserm.fr	GRCh37	18	29488792	29488792	+	synonymous_variant	Silent	SNP	T	A	A			BCM567T																					ENST00000283351.4:c.1047A>T	p.Arg349=	p.R349=	ENST00000283351	NM_014939.3	349	cgA/cgT	0	validated		synonymous	
KREMEN1		inserm.fr	GRCh37	22	29538057	29538057	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000327813.5:c.1385G>A	p.Gly462Asp	p.G462D	ENST00000327813	NM_032045.4	462	gGt/gAt	0	not done		possiblydamaging	
NF1		inserm.fr	GRCh37	17	29556292	29556292	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000358273.4:c.2659G>A	p.Ala887Thr	p.A887T	ENST00000358273	NM_001042492.2	887	Gca/Aca	0	not done		benign	
NF1		inserm.fr	GRCh37	17	29563007	29563007	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000358273.4:c.3942G>A	p.Trp1314Ter	p.W1314*	ENST00000358273	NM_001042492.2	1314	tgG/tgA	0	not done		damaging	
FAM101B		inserm.fr	GRCh37	17	295696	295696	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC794T																					ENST00000329099.4:c.35C>T	p.Ala12Val	p.A12V	ENST00000329099	NM_182705.2	12	gCg/gTg	0	validated		synonymous	
GABBR1		inserm.fr	GRCh37	6	29578724	29578724	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2208T																					ENST00000377034.4:c.1685G>T	p.Trp562Leu	p.W562L	ENST00000377034	NM_001470.2	562	tGg/tTg	0	not done		probablydamaging	
NF1		inserm.fr	GRCh37	17	29585451	29585451	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000358273.4:c.4263G>A	p.Pro1421=	p.P1421=	ENST00000358273	NM_001042492.2	1421	ccG/ccA	0	not done		synonymous	
GABBR1		inserm.fr	GRCh37	6	29599215	29599215	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000377034.4:c.247G>T	p.Ala83Ser	p.A83S	ENST00000377034	NM_001470.2	83	Gcc/Tcc	0	not done		benign	
MTUS2		inserm.fr	GRCh37	13	29599937	29599937	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB109T																					ENST00000431530.3:c.1132C>A	p.Leu378Ile	p.L378I	ENST00000431530	NM_001033602.2	378	Ctc/Atc	0	validated		benign	
EMID1		inserm.fr	GRCh37	22	29602079	29602079	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000334018.6:c.52G>A	p.Gly18Arg	p.G18R	ENST00000334018	NM_001267895.1	18	Gga/Aga	0	not done		probablydamaging	
OVCH1		inserm.fr	GRCh37	12	29626011	29626011	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1192T																					ENST00000318184.5:c.1626G>T	p.Lys542Asn	p.K542N	ENST00000318184	NM_183378.2	542	aaG/aaT	0	not done		benign	
EMID1		inserm.fr	GRCh37	22	29629656	29629656	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000334018.6:c.966+1G>A		p.X322_splice	ENST00000334018	NM_001267895.1			0	not done		damaging	
OVCH1		inserm.fr	GRCh37	12	29639268	29639268	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000318184.5:c.906C>T	p.Gly302=	p.G302=	ENST00000318184	NM_183378.2	302	ggC/ggT	0	not done		synonymous	
OVCH1		inserm.fr	GRCh37	12	29642594	29642594	+	synonymous_variant	Silent	SNP	G	A	A			CHC1742T																					ENST00000318184.5:c.661C>T	p.Leu221=	p.L221=	ENST00000318184	NM_183378.2	221	Ctg/Ttg	0	not done		synonymous	
ZFP57		inserm.fr	GRCh37	6	29643739	29643739	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1592T																					ENST00000488757.1:c.221C>T	p.Ser74Leu	p.S74L	ENST00000488757	NM_001109809.2	74	tCg/tTg	0	not done		probablydamaging	
EMID1		inserm.fr	GRCh37	22	29654813	29654813	+	synonymous_variant	Silent	SNP	G	A	A			CHC1734T																					ENST00000334018.6:c.1212G>A	p.Glu404=	p.E404=	ENST00000334018	NM_001267895.1	404	gaG/gaA	0	not done		synonymous	
EWSR1		inserm.fr	GRCh37	22	29682913	29682913	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	A	A			CHC1616T																					ENST00000414183.2:c.601T>A	p.Tyr201Asn	p.Y201N	ENST00000414183		201	Tat/Aat	0	not done		possiblydamaging	
EWSR1		inserm.fr	GRCh37	22	29684725	29684725	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1207T																					ENST00000414183.2:c.942T>A	p.Asp314Glu	p.D314E	ENST00000414183		314	gaT/gaA	0	validated		unknown	
HLA-F		inserm.fr	GRCh37	6	29692037	29692037	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1725T																					ENST00000259951.7:c.422G>A	p.Gly141Asp	p.G141D	ENST00000259951	NM_001098479.1	141	gGc/gAc	0	not done		probablydamaging	
EWSR1		inserm.fr	GRCh37	22	29695767	29695767	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000414183.2:c.1872G>A	p.Gly624=	p.G624=	ENST00000414183		624	ggG/ggA	0	not done		synonymous	
QPRT		inserm.fr	GRCh37	16	29706349	29706349	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000395384.4:c.378G>A	p.Arg126=	p.R126=	ENST00000395384	NM_014298.3	126	agG/agA	0	not done		synonymous	
CARD11		inserm.fr	GRCh37	7	2974257	2974257	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000396946.4:c.1348C>T	p.Pro450Ser	p.P450S	ENST00000396946	NM_032415.4	450	Ccc/Tcc	0	not done		benign	
AP1B1		inserm.fr	GRCh37	22	29755864	29755864	+	synonymous_variant	Silent	SNP	G	A	A			CHC1545T																					ENST00000357586.2:c.228C>T	p.Tyr76=	p.Y76=	ENST00000357586	NM_001127.3	76	taC/taT	0	not done		synonymous	
CSMD1		inserm.fr	GRCh37	8	2975938	2975938	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000537824.1:c.6413C>T	p.Pro2138Leu	p.P2138L	ENST00000537824	NM_033225.5	2138	cCt/cTt	0	not done		probablydamaging	
MEP1B		inserm.fr	GRCh37	18	29797833	29797833	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC703T																					ENST00000269202.6:c.1996T>A	p.Leu666Met	p.L666M	ENST00000269202	NM_005925.2	666	Ttg/Atg	0	validated		possiblydamaging	
FLYWCH1		inserm.fr	GRCh37	16	2979963	2979963	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC609T																					ENST00000416288.2:c.277C>A	p.Gln93Lys	p.Q93K	ENST00000416288	NM_032296.2	93	Cag/Aag	0	validated		benign	
MAZ		inserm.fr	GRCh37	16	29818761	29818761	+	synonymous_variant	Silent	SNP	C	A	A			CHC1205T																					ENST00000219782.6:c.655C>A	p.Arg219=	p.R219=	ENST00000219782	NM_001042539.2	219	Cgg/Agg	0	not done		synonymous	
TLE6		inserm.fr	GRCh37	19	2982187	2982187	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000246112.4:c.222G>A	p.Gln74=	p.Q74=	ENST00000246112	NM_001143986.1	74	caG/caA	0	not done		damaging	
PRRT2		inserm.fr	GRCh37	16	29824861	29824861	+	synonymous_variant	Silent	SNP	C	A	A			CHC433T																					ENST00000567659.1:c.486C>A	p.Thr162=	p.T162=	ENST00000567659		162	acC/acA	0	validated		synonymous	
MVP		inserm.fr	GRCh37	16	29856131	29856131	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1717T																					ENST00000357402.5:c.1952G>A	p.Arg651Gln	p.R651Q	ENST00000357402	NM_017458.3	651	cGg/cAg	0	not done		probablydamaging	
CDIPT		inserm.fr	GRCh37	16	29874140	29874140	+	synonymous_variant	Silent	SNP	G	A	A			CHC314T																					ENST00000219789.6:c.39C>T	p.Leu13=	p.L13=	ENST00000219789	NM_006319.3	13	ctC/ctT	0	validated		synonymous	
BOLA2		inserm.fr	GRCh37	16	29875656	29875656	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000398859.3:n.203G>A		*68*	ENST00000398859				0	not done			
PTPRA		inserm.fr	GRCh37	20	2988027	2988027	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000380393.3:c.867G>A	p.Gly289=	p.G289=	ENST00000380393	NM_002836.3	289	ggG/ggA	0	not done		synonymous	
SEZ6L2		inserm.fr	GRCh37	16	29898996	29898996	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2208T																					ENST00000308713.5:c.1182G>T	p.Arg394Ser	p.R394S	ENST00000308713	NM_001114099.2	394	agG/agT	0	not done		possiblydamaging	
HLA-A		inserm.fr	GRCh37	6	29910682	29910682	+	synonymous_variant	Silent	SNP	G	A	A			CHC155T																					ENST00000376809.5:c.222G>A	p.Pro74=	p.P74=	ENST00000376809	NM_002116.7	74	ccG/ccA	0	validated		synonymous	
THOC5		inserm.fr	GRCh37	22	29921933	29921933	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1192T																					ENST00000490103.1:c.1069G>T	p.Asp357Tyr	p.D357Y	ENST00000490103	NM_003678.4	357	Gac/Tac	0	not done		benign	
TLE6		inserm.fr	GRCh37	19	2994091	2994091	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1209T																					ENST00000246112.4:c.1612G>A	p.Glu538Lys	p.E538K	ENST00000246112	NM_001143986.1	538	Gag/Aag	0	not done		benign	
IL1RAPL1		inserm.fr	GRCh37	X	29973525	29973525	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1601T																					ENST00000378993.1:c.1679C>A	p.Pro560His	p.P560H	ENST00000378993	NM_014271.3	560	cCt/cAt	0	not done		probablydamaging	
RHNO1		inserm.fr	GRCh37	12	2997603	2997603	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1211T																					ENST00000489288.2:c.695G>A	p.Ser232Asn	p.S232N	ENST00000489288	NM_001257097.1	232	aGc/aAc	0	not done			
FAM20C		inserm.fr	GRCh37	7	299824	299824	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000313766.5:c.1633G>A	p.Ala545Thr	p.A545T	ENST00000313766	NM_020223.3	545	Gcc/Acc	0	not done		probablydamaging	
TAOK2		inserm.fr	GRCh37	16	29997779	29997779	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000308893.4:c.2186G>A	p.Arg729Gln	p.R729Q	ENST00000308893	NM_016151.3	729	cGg/cAg	0	not done		probablydamaging	
TAOK2		inserm.fr	GRCh37	16	29997827	29997827	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC437T																					ENST00000308893.4:c.2234T>A	p.Val745Glu	p.V745E	ENST00000308893	NM_016151.3	745	gTa/gAa	0	not done		possiblydamaging	
TJP1		inserm.fr	GRCh37	15	29997948	29997948	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC434T									Valid												ENST00000346128.6:c.4852C>T	p.Pro1618Ser	p.P1618S	ENST00000346128	NM_175610.2	1618	Cct/Tct	0	validated		probablydamaging	
TAOK2		inserm.fr	GRCh37	16	29999013	29999013	+	synonymous_variant	Silent	SNP	C	A	A			CHC1052T																					ENST00000308893.4:c.3420C>A	p.Thr1140=	p.T1140=	ENST00000308893	NM_016151.3	1140	acC/acA	0	validated		synonymous	
TAOK2		inserm.fr	GRCh37	16	30002553	30002553	+	downstream_gene_variant	3'Flank	SNP	C	A	A			CHC1205T																								ENST00000279392	NM_003609.4			0	validated		synonymous	
VSTM2B		inserm.fr	GRCh37	19	30021083	30021083	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2098T																					ENST00000335523.7:c.655G>A	p.Ala219Thr	p.A219T	ENST00000335523	NM_001146339.1	219	Gcg/Acg	0	validated		possiblydamaging	
VSTM2B		inserm.fr	GRCh37	19	30021175	30021175	+	synonymous_variant	Silent	SNP	G	A	A			CHC2127T																					ENST00000335523.7:c.747G>A	p.Leu249=	p.L249=	ENST00000335523	NM_001146339.1	249	ctG/ctA	0	validated		synonymous	
ZNRD1		inserm.fr	GRCh37	6	30030070	30030070	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC451T																					ENST00000332435.5:c.316G>A	p.Asp106Asn	p.D106N	ENST00000332435	NM_170783.3	106	Gat/Aat	0	validated		probablydamaging	
KCNA4		inserm.fr	GRCh37	11	30032469	30032469	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000328224.6:c.1757G>T	p.Cys586Phe	p.C586F	ENST00000328224	NM_002233.3	586	tGt/tTt	0	not done		benign	
KCNA4		inserm.fr	GRCh37	11	30032836	30032836	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000328224.6:c.1390C>T	p.Leu464=	p.L464=	ENST00000328224	NM_002233.3	464	Ctg/Ttg	0	not done		synonymous	
REM1		inserm.fr	GRCh37	20	30064274	30064274	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1091T																					ENST00000201979.2:c.26C>A	p.Ala9Glu	p.A9E	ENST00000201979	NM_014012.5	9	gCa/gAa	0	validated		benign	
MTUS2		inserm.fr	GRCh37	13	30075281	30075281	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000431530.3:c.3876G>A	p.Gln1292=	p.Q1292=	ENST00000431530	NM_001033602.2	1292	caG/caA	0	not done		synonymous	
PRKD1		inserm.fr	GRCh37	14	30093361	30093361	+	synonymous_variant	Silent	SNP	T	A	A			CHC2200T																					ENST00000331968.5:c.1902A>T	p.Leu634=	p.L634=	ENST00000331968	NM_002742.2	634	ctA/ctT	0	not done		synonymous	
PPP4C		inserm.fr	GRCh37	16	30094740	30094740	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1061T									Valid												ENST00000279387.7:c.329T>A	p.Leu110Gln	p.L110Q	ENST00000279387	NM_002720.1	110	cTg/cAg	0	validated		probablydamaging	
TBX6		inserm.fr	GRCh37	16	30097887	30097887	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1182T																					ENST00000395224.2:c.1043C>T	p.Ala348Val	p.A348V	ENST00000395224	NM_004608.3	348	gCc/gTc	0	not done		probablydamaging	
TRIM10		inserm.fr	GRCh37	6	30126187	30126187	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC429T									Valid												ENST00000449742.2:c.745G>T	p.Glu249Ter	p.E249*	ENST00000449742	NM_006778.3	249	Gag/Tag	0	validated		damaging	
TRIM15		inserm.fr	GRCh37	6	30139930	30139930	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T																					ENST00000376694.4:c.1202C>A	p.Ser401Tyr	p.S401Y	ENST00000376694	NM_033229.2	401	tCc/tAc	0	validated		benign	
CSMD1		inserm.fr	GRCh37	8	3015444	3015444	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1531T																					ENST00000537824.1:c.5889G>T	p.Trp1963Cys	p.W1963C	ENST00000537824	NM_033225.5	1963	tgG/tgT	0	not done		probablydamaging	
C19orf12		inserm.fr	GRCh37	19	30193717	30193717	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000392278.2:c.361C>T	p.Leu121=	p.L121=	ENST00000392278	NM_001031726.3	121	Ctg/Ttg	0	not done		synonymous	
CARS		inserm.fr	GRCh37	11	3023207	3023207	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC796T									Valid												ENST00000380525.4:c.2354A>T	p.Asp785Val	p.D785V	ENST00000380525	NM_001194997.1	785	gAt/gTt	0	validated		probablydamaging	
MAGEB4		inserm.fr	GRCh37	X	30260808	30260808	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM567T																					ENST00000378982.2:c.556G>A	p.Asp186Asn	p.D186N	ENST00000378982	NM_002367.3	186	Gat/Aat	0	validated		possiblydamaging	
TULP3		inserm.fr	GRCh37	12	3030031	3030031	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000397132.2:c.196G>A	p.Asp66Asn	p.D66N	ENST00000397132	NM_001160408.1	66	Gat/Aat	0	not done		benign	
OR1G1		inserm.fr	GRCh37	17	3030105	3030105	+	synonymous_variant	Silent	SNP	C	A	A			CHC1747T																					ENST00000328890.2:c.741G>T	p.Val247=	p.V247=	ENST00000328890	NM_003555.1	247	gtG/gtT	0	not done		synonymous	
SUZ12		inserm.fr	GRCh37	17	30310118	30310118	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2113T																					ENST00000322652.5:c.1018G>A	p.Gly340Arg	p.G340R	ENST00000322652	NM_015355.2	340	Ggg/Agg	0	not done		probablydamaging	
KIAA1462		inserm.fr	GRCh37	10	30318521	30318521	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000375377.1:c.556C>T	p.Leu186=	p.L186=	ENST00000375377	NM_020848.2	186	Ctg/Ttg	0	not done		synonymous	
SUZ12		inserm.fr	GRCh37	17	30320260	30320260	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000322652.5:c.1202-1G>A		p.X401_splice	ENST00000322652	NM_015355.2			0	not done		damaging	
SUZ12		inserm.fr	GRCh37	17	30323884	30323884	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM399T									Valid												ENST00000322652.5:c.1862T>A	p.Val621Asp	p.V621D	ENST00000322652	NM_015355.2	621	gTc/gAc	0	validated		probablydamaging	
KLHL14		inserm.fr	GRCh37	18	30350056	30350056	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359358.4:c.499C>T	p.Pro167Ser	p.P167S	ENST00000359358	NM_020805.1	167	Ccc/Tcc	0	not done		possiblydamaging	
PRKD1		inserm.fr	GRCh37	14	30396649	30396649	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000331968.5:c.70G>T	p.Ala24Ser	p.A24S	ENST00000331968	NM_002742.2	24	Gcc/Tcc	0	not done		possiblydamaging	
MYLK2		inserm.fr	GRCh37	20	30408122	30408122	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000375994.2:c.246G>A	p.Arg82=	p.R82=	ENST00000375994		82	agG/agA	0	not done		synonymous	
ZNF48		inserm.fr	GRCh37	16	30408827	30408827	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000320159.2:c.256G>A	p.Gly86Arg	p.G86R	ENST00000320159	NM_152652.2	86	Gga/Aga	0	not done		benign	
USP16		inserm.fr	GRCh37	21	30411346	30411346	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000334352.4:c.733-1G>A		p.X245_splice	ENST00000334352	NM_001032410.1			0	not done		damaging	
MYLK2		inserm.fr	GRCh37	20	30414452	30414452	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1742T																					ENST00000375994.2:c.1017C>A	p.His339Gln	p.H339Q	ENST00000375994		339	caC/caA	0	not done		probablydamaging	
FOXS1		inserm.fr	GRCh37	20	30432393	30432393	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000375978.3:c.953C>T	p.Pro318Leu	p.P318L	ENST00000375978	NM_004118.3	318	cCc/cTc	0	not done		benign	
MPPED2		inserm.fr	GRCh37	11	30433059	30433059	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1035T									Valid												ENST00000358117.5:c.841A>T	p.Asn281Tyr	p.N281Y	ENST00000358117	NM_001584.2	281	Aac/Tac	0	validated		probablydamaging	
DUSP15		inserm.fr	GRCh37	20	30449448	30449448	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1192T																					ENST00000339738.5:c.466G>T	p.Glu156Ter	p.E156*	ENST00000339738	NM_080611.3	156	Gag/Tag	0	validated		damaging	
DUSP15		inserm.fr	GRCh37	20	30452788	30452788	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000339738.5:c.156C>T	p.Arg52=	p.R52=	ENST00000339738	NM_080611.3	52	cgC/cgT	0	validated		synonymous	
HLA-E		inserm.fr	GRCh37	6	30458258	30458258	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC2098T																					ENST00000376630.4:c.576C>A	p.Tyr192Ter	p.Y192*	ENST00000376630	NM_005516.5	192	taC/taA	0	not done		damaging	
CSMD1		inserm.fr	GRCh37	8	3047474	3047474	+	synonymous_variant	Silent	SNP	G	A	A			BCB111T																					ENST00000537824.1:c.5358C>T	p.Asn1786=	p.N1786=	ENST00000537824	NM_033225.5	1786	aaC/aaT	0	validated		synonymous	
URI1		inserm.fr	GRCh37	19	30496357	30496357	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1061T																					ENST00000542441.2:c.457G>A	p.Asp153Asn	p.D153N	ENST00000542441		153	Gat/Aat	0	validated		probablydamaging	
GNL1		inserm.fr	GRCh37	6	30523915	30523915	+	synonymous_variant	Silent	SNP	C	A	A			CHC1211T																					ENST00000376621.3:c.66G>T	p.Arg22=	p.R22=	ENST00000376621	NM_005275.3	22	cgG/cgT	0	validated		synonymous	
PRR3		inserm.fr	GRCh37	6	30530229	30530229	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC879T																					ENST00000376560.3:c.524T>A	p.Leu175His	p.L175H	ENST00000376560	NM_025263.3	175	cTc/cAc	0	not done		benign	
ZNF768		inserm.fr	GRCh37	16	30537649	30537649	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC798T																					ENST00000380412.5:c.86G>T	p.Arg29Ile	p.R29I	ENST00000380412	NM_024671.3	29	aGa/aTa	0	validated		benign	
ZNF747		inserm.fr	GRCh37	16	30545917	30545917	+	synonymous_variant	Silent	SNP	T	A	A			CHC1756T																					ENST00000252799.3:c.84A>T	p.Gly28=	p.G28=	ENST00000252799	NM_023931.2	28	ggA/ggT	0	not done		synonymous	
ABCF1		inserm.fr	GRCh37	6	30557974	30557974	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM723T									Valid												ENST00000326195.8:c.2282C>A	p.Pro761His	p.P761H	ENST00000326195	NM_001025091.1	761	cCt/cAt	0	validated		probablydamaging	
ZNF764		inserm.fr	GRCh37	16	30566962	30566962	+	synonymous_variant	Silent	SNP	G	A	A			CHC1186T																					ENST00000252797.2:c.780C>T	p.Gly260=	p.G260=	ENST00000252797	NM_033410.3	260	ggC/ggT	0	not done		synonymous	
ZNF764		inserm.fr	GRCh37	16	30567100	30567100	+	synonymous_variant	Silent	SNP	G	A	A			CHC1041T																					ENST00000252797.2:c.642C>T	p.His214=	p.H214=	ENST00000252797	NM_033410.3	214	caC/caT	0	validated		synonymous	
PPP1R10		inserm.fr	GRCh37	6	30571971	30571971	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2034T																					ENST00000376511.2:c.1322G>T	p.Arg441Leu	p.R441L	ENST00000376511	NM_002714.3	441	cGa/cTa	0	not done		probablydamaging	
CXorf21		inserm.fr	GRCh37	X	30578353	30578353	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000378962.3:c.120C>T	p.Thr40=	p.T40=	ENST00000378962	NM_025159.2	40	acC/acT	0	not done		synonymous	
GSR		inserm.fr	GRCh37	8	30585293	30585293	+	synonymous_variant	Silent	SNP	C	A	A			CHC304T																					ENST00000221130.5:c.60G>T	p.Ala20=	p.A20=	ENST00000221130	NM_000637.3	20	gcG/gcT	0	validated		synonymous	
C6orf136		inserm.fr	GRCh37	6	30617520	30617520	+	synonymous_variant	Silent	SNP	C	A	A			BCM397T																					ENST00000293604.6:c.801C>A	p.Leu267=	p.L267=	ENST00000293604	NM_001161376.1	267	ctC/ctA	0	validated		synonymous	
CSMD1		inserm.fr	GRCh37	8	3063043	3063043	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC889T																					ENST00000537824.1:c.4967C>T	p.Thr1656Met	p.T1656M	ENST00000537824	NM_033225.5	1656	aCg/aTg	0	not done		probablydamaging	
AVP		inserm.fr	GRCh37	20	3063768	3063768	+	synonymous_variant	Silent	SNP	G	A	A			CHC1720T																					ENST00000380293.3:c.177C>T	p.Cys59=	p.C59=	ENST00000380293	NM_000490.4	59	tgC/tgT	0	not done		synonymous	
GARS		inserm.fr	GRCh37	7	30639619	30639619	+	synonymous_variant	Silent	SNP	C	A	A			BCM739T																					ENST00000389266.3:c.381C>A	p.Thr127=	p.T127=	ENST00000389266	NM_002047.2	127	acC/acA	0	validated		synonymous	
OSM		inserm.fr	GRCh37	22	30660195	30660195	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1736T																					ENST00000215781.2:c.436C>T	p.Leu146Phe	p.L146F	ENST00000215781	NM_020530.4	146	Ctc/Ttc	0	not done		benign	
PRR14		inserm.fr	GRCh37	16	30664367	30664367	+	synonymous_variant	Silent	SNP	C	A	A			CHC798T																					ENST00000542965.2:c.447C>A	p.Pro149=	p.P149=	ENST00000542965		149	ccC/ccA	0	validated		synonymous	
MDC1		inserm.fr	GRCh37	6	30671739	30671739	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC304T									Valid												ENST00000376406.3:c.5221C>T	p.Pro1741Ser	p.P1741S	ENST00000376406	NM_014641.2	1741	Cct/Tct	0	validated		possiblydamaging	
FBRS		inserm.fr	GRCh37	16	30673971	30673971	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000356166.6:c.846G>A	p.Gln282=	p.Q282=	ENST00000356166		282	caG/caA	0	not done		synonymous	
FBRS		inserm.fr	GRCh37	16	30676104	30676104	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000356166.6:c.1426G>A	p.Gly476Arg	p.G476R	ENST00000356166		476	Ggg/Agg	0	not done			
MDC1		inserm.fr	GRCh37	6	30679230	30679230	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2351T																					ENST00000376406.3:c.2180C>T	p.Pro727Leu	p.P727L	ENST00000376406	NM_014641.2	727	cCc/cTc	0	not done		benign	
HCK		inserm.fr	GRCh37	20	30681800	30681800	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2216T																					ENST00000375852.2:c.1227C>A	p.Asn409Lys	p.N409K	ENST00000375852		409	aaC/aaA	0	not done		benign	
GATSL3		inserm.fr	GRCh37	22	30682054	30682054	+	synonymous_variant	Silent	SNP	C	A	A			CHC793T																					ENST00000407689.3:c.777G>T	p.Ser259=	p.S259=	ENST00000407689	NM_001037666.2	259	tcG/tcT	0	validated		synonymous	
TEX15		inserm.fr	GRCh37	8	30694566	30694566	+	synonymous_variant	Silent	SNP	G	A	A			CHC884T																					ENST00000256246.2:c.8085C>T	p.Thr2695=	p.T2695=	ENST00000256246	NM_031271.3	2695	acC/acT	0	validated		synonymous	
TEX15		inserm.fr	GRCh37	8	30695441	30695441	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000256246.2:c.7210C>T	p.Pro2404Ser	p.P2404S	ENST00000256246	NM_031271.3	2404	Cca/Tca	0	not done		possiblydamaging	
ZNF207		inserm.fr	GRCh37	17	30696405	30696405	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000394670.4:c.1256G>A	p.Gly419Glu	p.G419E	ENST00000394670	NM_001098507.1	419	gGa/gAa	0	not done		probablydamaging	
BACH1		inserm.fr	GRCh37	21	30701979	30701979	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2128T																					ENST00000399921.1:c.1741T>A	p.Cys581Ser	p.C581S	ENST00000399921	NM_206866.1	581	Tgt/Agt	0	not done		possiblydamaging	
PCDH7		inserm.fr	GRCh37	4	30723714	30723714	+	synonymous_variant	Silent	SNP	C	A	A			CHC1754T																					ENST00000543491.1:c.670C>A	p.Arg224=	p.R224=	ENST00000543491		224	Cgg/Agg	0	not done		synonymous	
PCDH7		inserm.fr	GRCh37	4	30724125	30724125	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2113T																					ENST00000543491.1:c.1081G>A	p.Asp361Asn	p.D361N	ENST00000543491		361	Gac/Aac	0	not done		probablydamaging	
SRCAP		inserm.fr	GRCh37	16	30724948	30724948	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC884T																					ENST00000262518.4:c.2409C>A	p.Phe803Leu	p.F803L	ENST00000262518	NM_006662.2	803	ttC/ttA	0	validated		probablydamaging	
CNTN4		inserm.fr	GRCh37	3	3072565	3072565	+	synonymous_variant	Silent	SNP	C	A	A			CHC1715T																					ENST00000397461.1:c.1689C>A	p.Ile563=	p.I563=	ENST00000397461	NM_001206955.1	563	atC/atA	0	not done		synonymous	
GK		inserm.fr	GRCh37	X	30742290	30742290	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1731T																					ENST00000378943.3:c.1556C>A	p.Pro519Gln	p.P519Q	ENST00000378943	NM_001128127.2	519	cCa/cAa	0	validated		benign	
SRCAP		inserm.fr	GRCh37	16	30744772	30744772	+	splice_donor_variant	Splice_Site	SNP	T	A	A			CHC301T									Valid												ENST00000262518.4:c.6297+2T>A		p.X2099_splice	ENST00000262518	NM_006662.2			0	validated		damaging	
SRCAP		inserm.fr	GRCh37	16	30745915	30745915	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000262518.4:c.6708G>A	p.Lys2236=	p.K2236=	ENST00000262518	NM_006662.2	2236	aaG/aaA	0	not done		synonymous	
MAP3K8		inserm.fr	GRCh37	10	30747045	30747045	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000263056.1:c.906G>A	p.Arg302=	p.R302=	ENST00000263056	NM_001244134.1	302	agG/agA	0	not done		synonymous	
SF3A1		inserm.fr	GRCh37	22	30749018	30749018	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1731T																					ENST00000215793.8:c.107C>T	p.Ser36Phe	p.S36F	ENST00000215793	NM_005877.4	36	tCt/tTt	0	not done		probablydamaging	
HTT		inserm.fr	GRCh37	4	3076657	3076657	+	synonymous_variant	Silent	SNP	G	A	A			BCM257T																					ENST00000355072.5:c.105G>A	p.Gln35=	p.Q35=	ENST00000355072	NM_002111.6	35	caG/caA	0	validated		synonymous	
HTT		inserm.fr	GRCh37	4	3076657	3076657	+	synonymous_variant	Silent	SNP	G	A	A			BCM265T																					ENST00000355072.5:c.105G>A	p.Gln35=	p.Q35=	ENST00000355072	NM_002111.6	35	caG/caA	0	validated		synonymous	
HTT		inserm.fr	GRCh37	4	3076657	3076657	+	synonymous_variant	Silent	SNP	G	A	A			BCM501T																					ENST00000355072.5:c.105G>A	p.Gln35=	p.Q35=	ENST00000355072	NM_002111.6	35	caG/caA	0	validated		synonymous	
GADL1		inserm.fr	GRCh37	3	30769790	30769790	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2362T																					ENST00000282538.5:c.1510C>T	p.Arg504Trp	p.R504W	ENST00000282538	NM_207359.2	504	Cgg/Tgg	0	validated		probablydamaging	
THOC6		inserm.fr	GRCh37	16	3077489	3077489	+	synonymous_variant	Silent	SNP	G	A	A			CHC1736T																					ENST00000326266.8:c.933G>A	p.Ala311=	p.A311=	ENST00000326266	NM_024339.3	311	gcG/gcA	0	not done		synonymous	
RNF215		inserm.fr	GRCh37	22	30776312	30776312	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1531T																					ENST00000382363.3:c.823C>T	p.Arg275Trp	p.R275W	ENST00000382363	NM_001017981.1	275	Cgg/Tgg	0	not done		probablydamaging	
RIPK1		inserm.fr	GRCh37	6	3081289	3081289	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000259808.4:c.398G>A	p.Gly133Asp	p.G133D	ENST00000259808		133	gGc/gAc	0	not done		possiblydamaging	
CSMD1		inserm.fr	GRCh37	8	3081369	3081369	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1569T																					ENST00000537824.1:c.4366A>T	p.Thr1456Ser	p.T1456S	ENST00000537824	NM_033225.5	1456	Acg/Tcg	0	not done		probablydamaging	
FAM188B		inserm.fr	GRCh37	7	30825415	30825415	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000265299.6:c.470G>A	p.Arg157Lys	p.R157K	ENST00000265299	NM_032222.2	157	aGg/aAg	0	not done		benign	
IPO8		inserm.fr	GRCh37	12	30843432	30843432	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC2115T																					ENST00000256079.4:c.164C>T	p.Ala55Val	p.A55V	ENST00000256079	NM_006390.3	55	gCa/gTa	0	not done		probablydamaging	
CCDC64B		inserm.fr	GRCh37	16	3085470	3085470	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000572449.1:c.28C>T	p.Pro10Ser	p.P10S	ENST00000572449		10	Ccg/Tcg	0	not done		benign	
LCLAT1		inserm.fr	GRCh37	2	30863020	30863020	+	synonymous_variant	Silent	SNP	G	A	A			CHC1041T																					ENST00000309052.4:c.780G>A	p.Ala260=	p.A260=	ENST00000309052	NM_182551.3	260	gcG/gcA	0	validated		synonymous	
DDR1		inserm.fr	GRCh37	6	30867010	30867010	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000376575.3:c.2697G>A	p.Glu899=	p.E899=	ENST00000376575		899	gaG/gaA	0	not done		synonymous	
GADL1		inserm.fr	GRCh37	3	30880512	30880512	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000282538.5:c.880C>T	p.His294Tyr	p.H294Y	ENST00000282538	NM_207359.2	294	Cac/Tac	0	not done		benign	
VARS2		inserm.fr	GRCh37	6	30884695	30884695	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000541562.1:c.802G>A	p.Ala268Thr	p.A268T	ENST00000541562	NM_001167734.1	268	Gcc/Acc	0	not done		possiblydamaging	
DCDC5		inserm.fr	GRCh37	11	30902810	30902810	+	stop_gained,NMD_transcript_variant	Nonsense_Mutation	SNP	T	A	A			CHC205T									Valid												ENST00000444572.2:c.2222A>T	p.Arg742Ter	p.R742*	ENST00000444572		742	Aga/Tga	0	validated		damaging	
FAM188B		inserm.fr	GRCh37	7	30911857	30911857	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000265299.6:c.1746-1G>A		p.X582_splice	ENST00000265299	NM_032222.2			0	not done		damaging	
DPCR1		inserm.fr	GRCh37	6	30919892	30919892	+	synonymous_variant	Silent	SNP	G	A	A			BCM543T																					ENST00000462446.1:c.3651G>A	p.Leu1217=	p.L1217=	ENST00000462446		1217	ctG/ctA	0	validated		synonymous	
PCDH7		inserm.fr	GRCh37	4	30921882	30921882	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1732T																					ENST00000543491.1:c.3282C>A	p.Ser1094Arg	p.S1094R	ENST00000543491		1094	agC/agA	0	not done		probablydamaging	
GRIK1		inserm.fr	GRCh37	21	30925923	30925923	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM759T																					ENST00000399907.1:c.2710C>T	p.Arg904Ter	p.R904*	ENST00000399907	NM_000830.3	904	Cga/Tga	0	validated		damaging	
ARHGAP11B		inserm.fr	GRCh37	15	30926540	30926540	+	synonymous_variant	Silent	SNP	T	A	A			CHC451T																					ENST00000428041.2:c.465T>A	p.Ala155=	p.A155=	ENST00000428041	NM_001039841.1	155	gcT/gcA	0	validated		synonymous	
DCDC5		inserm.fr	GRCh37	11	30928154	30928154	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	A	A			CHC1065T																					ENST00000303697.4:c.99G>T	p.Cys34Phe	p.C34F	ENST00000303697		34	tGt/tTt	0	validated			
FAM188B		inserm.fr	GRCh37	7	30931581	30931581	+	synonymous_variant	Silent	SNP	G	A	A			CHC1152T																					ENST00000265299.6:c.2235G>A	p.Gly745=	p.G745=	ENST00000265299	NM_032222.2	745	ggG/ggA	0	not done		synonymous	
ZNF536		inserm.fr	GRCh37	19	30936491	30936491	+	synonymous_variant	Silent	SNP	G	A	A			CHC2052T																					ENST00000355537.3:c.2022G>A	p.Ser674=	p.S674=	ENST00000355537	NM_014717.1	674	tcG/tcA	0	not done		synonymous	
FBXL19		inserm.fr	GRCh37	16	30937100	30937100	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000380310.2:c.85G>A	p.Gly29Arg	p.G29R	ENST00000380310	NM_001099784.2	29	Ggg/Agg	0	not done		benign	
WRN		inserm.fr	GRCh37	8	30938812	30938812	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000298139.5:c.1269G>A	p.Glu423=	p.E423=	ENST00000298139	NM_000553.4	423	gaG/gaA	0	not done		damaging	
FBXL19		inserm.fr	GRCh37	16	30941858	30941858	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000380310.2:c.1314G>A	p.Pro438=	p.P438=	ENST00000380310	NM_001099784.2	438	ccG/ccA	0	not done		synonymous	
AQP1		inserm.fr	GRCh37	7	30963079	30963079	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000311813.4:c.645G>A	p.Gly215=	p.G215=	ENST00000311813	NM_198098.2	215	ggG/ggA	0	not done		synonymous	
ORAI3		inserm.fr	GRCh37	16	30964679	30964679	+	synonymous_variant	Silent	SNP	T	A	A			CHC1191T																					ENST00000318663.4:c.402T>A	p.Ser134=	p.S134=	ENST00000318663	NM_152288.2	134	tcT/tcA	0	not done		synonymous	
SETD1A		inserm.fr	GRCh37	16	30975494	30975494	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC313T									Valid												ENST00000262519.8:c.719G>A	p.Gly240Asp	p.G240D	ENST00000262519	NM_014712.1	240	gGc/gAc	0	validated		probablydamaging	
SETD1A		inserm.fr	GRCh37	16	30976101	30976101	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000262519.8:c.1038G>A	p.Ser346=	p.S346=	ENST00000262519	NM_014712.1	346	tcG/tcA	0	not done		synonymous	
SETD1A		inserm.fr	GRCh37	16	30977410	30977410	+	synonymous_variant	Silent	SNP	G	A	A			CHC1754T																					ENST00000262519.8:c.2208G>A	p.Gly736=	p.G736=	ENST00000262519	NM_014712.1	736	ggG/ggA	0	not done		synonymous	
SETD1A		inserm.fr	GRCh37	16	30991340	30991340	+	synonymous_variant	Silent	SNP	G	A	A			CHC1757T																					ENST00000262519.8:c.4233G>A	p.Pro1411=	p.P1411=	ENST00000262519	NM_014712.1	1411	ccG/ccA	0	validated		synonymous	
CCDC178		inserm.fr	GRCh37	18	30992043	30992043	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC912T																					ENST00000383096.3:c.10A>T	p.Asn4Tyr	p.N4Y	ENST00000383096		4	Aac/Tac	0	validated		probablydamaging	
CAPN13		inserm.fr	GRCh37	2	30993246	30993246	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000295055.8:c.457C>T	p.Leu153Phe	p.L153F	ENST00000295055	NM_144575.2	153	Ctc/Ttc	0	not done		possiblydamaging	
MUC22		inserm.fr	GRCh37	6	30993326	30993326	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000561890.1:c.118G>A	p.Ala40Thr	p.A40T	ENST00000561890	NM_001198815.1	40	Gcc/Acc	0	not done			
MUC22		inserm.fr	GRCh37	6	30997469	30997469	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000561890.1:c.4261G>A	p.Ala1421Thr	p.A1421T	ENST00000561890	NM_001198815.1	1421	Gca/Aca	0	validated			
HSD3B7		inserm.fr	GRCh37	16	30999363	30999363	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000297679.5:c.969G>A	p.Thr323=	p.T323=	ENST00000297679	NM_025193.3	323	acG/acA	0	validated		synonymous	
MMP25		inserm.fr	GRCh37	16	3100499	3100499	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1712T																					ENST00000336577.4:c.613G>A	p.Gly205Arg	p.G205R	ENST00000336577	NM_022468.4	205	Ggg/Agg	0	not done		probablydamaging	
OR1A2		inserm.fr	GRCh37	17	3101220	3101220	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM703T																					ENST00000381951.1:c.408G>A	p.Met136Ile	p.M136I	ENST00000381951	NM_012352.1	136	atG/atA	0	validated		benign	
GHRHR		inserm.fr	GRCh37	7	31014073	31014073	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM397T																					ENST00000326139.2:c.781G>A	p.Val261Met	p.V261M	ENST00000326139	NM_000823.3	261	Gtg/Atg	0	validated		possiblydamaging	
ASXL1		inserm.fr	GRCh37	20	31017813	31017813	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000375687.4:c.675G>A	p.Gln225=	p.Q225=	ENST00000375687	NM_015338.5	225	caG/caA	0	not done		synonymous	
ASXL1		inserm.fr	GRCh37	20	31022469	31022469	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM683T																					ENST00000375687.4:c.1954G>A	p.Gly652Ser	p.G652S	ENST00000375687	NM_015338.5	652	Ggc/Agc	0	validated		benign	
TCN2		inserm.fr	GRCh37	22	31022492	31022492	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000215838.3:c.1268G>A	p.Arg423Lys	p.R423K	ENST00000215838		423	aGg/aAg	0	not done		benign	
ZNF536		inserm.fr	GRCh37	19	31039449	31039449	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2200T																					ENST00000355537.3:c.2923C>A	p.Pro975Thr	p.P975T	ENST00000355537	NM_014717.1	975	Ccc/Acc	0	not done		probablydamaging	
SLC35E4		inserm.fr	GRCh37	22	31042658	31042658	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000343605.4:c.693G>A	p.Leu231=	p.L231=	ENST00000343605	NM_001001479.2	231	ctG/ctA	0	not done		synonymous	
RIPK1		inserm.fr	GRCh37	6	3106199	3106199	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB109T																					ENST00000259808.4:c.1490T>A	p.Met497Lys	p.M497K	ENST00000259808		497	aTg/aAg	0	validated		benign	
ZNF668		inserm.fr	GRCh37	16	31073602	31073602	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC879T																					ENST00000539836.3:c.717-1G>T		p.X239_splice	ENST00000539836	NM_001172669.1			0	not done		possiblydamaging	
PFKP		inserm.fr	GRCh37	10	3109819	3109819	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000381125.4:c.32G>A	p.Gly11Asp	p.G11D	ENST00000381125	NM_002627.4	11	gGc/gAc	0	not done		benign	
PSORS1C1		inserm.fr	GRCh37	6	31107690	31107690	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC917T																					ENST00000259881.9:c.440G>A	p.Gly147Asp	p.G147D	ENST00000259881	NM_014068.2	147	gGt/gAt	0	validated		benign	
CCHCR1		inserm.fr	GRCh37	6	31111159	31111159	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000396268.3:c.2199C>T	p.Ala733=	p.A733=	ENST00000396268	NM_001105563.1	733	gcC/gcT	0	validated		synonymous	
ADCYAP1R1		inserm.fr	GRCh37	7	31117647	31117647	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC258T																					ENST00000396211.2:c.199G>A	p.Ala67Thr	p.A67T	ENST00000396211		67	Gcc/Acc	0	validated		benign	
CCHCR1		inserm.fr	GRCh37	6	31124614	31124614	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC892T																					ENST00000396268.3:c.391G>T	p.Gly131Cys	p.G131C	ENST00000396268	NM_001105563.1	131	Ggc/Tgc	0	not done		damaging	
OSBPL5		inserm.fr	GRCh37	11	3115063	3115063	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000263650.7:c.1722C>T	p.Pro574=	p.P574=	ENST00000263650	NM_020896.3	574	ccC/ccT	0	not done		synonymous	
PRSS36		inserm.fr	GRCh37	16	31152066	31152066	+	synonymous_variant	Silent	SNP	T	A	A			CHC2052T																					ENST00000268281.4:c.1914A>T	p.Thr638=	p.T638=	ENST00000268281	NM_173502.4	638	acA/acT	0	not done		synonymous	
PRSS36		inserm.fr	GRCh37	16	31154163	31154163	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM617T																					ENST00000268281.4:c.1252A>T	p.Thr418Ser	p.T418S	ENST00000268281	NM_173502.4	418	Acg/Tcg	0	validated		benign	
GALNT14		inserm.fr	GRCh37	2	31154985	31154985	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC902T																					ENST00000324589.5:c.1022G>T	p.Arg341Leu	p.R341L	ENST00000324589	NM_001253826.1	341	cGg/cTg	0	not done		probablydamaging	
C20orf112		inserm.fr	GRCh37	20	31172508	31172508	+	intron_variant,non_coding_transcript_variant	Intron	SNP	G	A	A			CHC1746T																					ENST00000457213.1:n.162+2582G>A		*54*	ENST00000457213				0	not done			
FAN1		inserm.fr	GRCh37	15	31197960	31197960	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000362065.4:c.1094G>A	p.Gly365Asp	p.G365D	ENST00000362065	NM_014967.4	365	gGt/gAt	0	not done		possiblydamaging	
ITFG3		inserm.fr	GRCh37	16	312211	312211	+	synonymous_variant	Silent	SNP	C	A	A			CHC805T																					ENST00000399932.3:c.828C>A	p.Ile276=	p.I276=	ENST00000399932	NM_001284497.1	276	atC/atA	0	not done		synonymous	
PYDC1		inserm.fr	GRCh37	16	31228197	31228197	+	synonymous_variant	Silent	SNP	G	A	A			CHC205T																					ENST00000302964.3:c.153C>T	p.Asp51=	p.D51=	ENST00000302964	NM_152901.2	51	gaC/gaT	0	validated		synonymous	
USPL1		inserm.fr	GRCh37	13	31233195	31233195	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000255304.4:c.2981G>A	p.Arg994Lys	p.R994K	ENST00000255304	NM_005800.4	994	aGg/aAg	0	not done		possiblydamaging	
OSBPL5		inserm.fr	GRCh37	11	3123412	3123412	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC1598T																					ENST00000263650.7:c.1425+1G>T		p.X475_splice	ENST00000263650	NM_020896.3			0	not done		possiblydamaging	
TRIM72		inserm.fr	GRCh37	16	31234151	31234151	+	synonymous_variant	Silent	SNP	G	A	A			CHC433T																					ENST00000322122.3:c.744G>A	p.Leu248=	p.L248=	ENST00000322122	NM_001008274.3	248	ctG/ctA	0	validated		synonymous	
TMEM98		inserm.fr	GRCh37	17	31266515	31266515	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000579849.1:c.434C>A	p.Ser145Ter	p.S145*	ENST00000579849	NM_015544.2	145	tCg/tAg	0	not done		damaging	
TEAD4		inserm.fr	GRCh37	12	3129852	3129852	+	synonymous_variant	Silent	SNP	C	A	A			CHC793T																					ENST00000359864.2:c.636C>A	p.Pro212=	p.P212=	ENST00000359864	NM_003213.3	212	ccC/ccA	0	validated		synonymous	
ASXL3		inserm.fr	GRCh37	18	31318602	31318602	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000269197.5:c.1234G>A	p.Ala412Thr	p.A412T	ENST00000269197	NM_030632.1	412	Gct/Act	0	not done		benign	
HLA-B		inserm.fr	GRCh37	6	31324051	31324051	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC437T																					ENST00000412585.2:c.512G>T	p.Trp171Leu	p.W171L	ENST00000412585	NM_005514.6	171	tGg/tTg	0	not done		probablydamaging	
DCDC1		inserm.fr	GRCh37	11	31327859	31327859	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000452803.1:c.511C>T	p.Pro171Ser	p.P171S	ENST00000452803	NM_181807.3	171	Cca/Tca	0	not done		possiblydamaging	
GALNT14		inserm.fr	GRCh37	2	31348041	31348041	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000324589.5:c.208C>T	p.Gln70Ter	p.Q70*	ENST00000324589	NM_001253826.1	70	Caa/Taa	0	not done		damaging	
SDC3		inserm.fr	GRCh37	1	31349435	31349435	+	synonymous_variant	Silent	SNP	C	A	A			CHC1035T																					ENST00000339394.6:c.834G>T	p.Leu278=	p.L278=	ENST00000339394	NM_014654.3	278	ctG/ctT	0	validated		synonymous	
MIER2		inserm.fr	GRCh37	19	313623	313623	+	synonymous_variant	Silent	SNP	G	A	A			BCB109T																					ENST00000264819.4:c.676C>T	p.Leu226=	p.L226=	ENST00000264819	NM_017550.1	226	Ctg/Ttg	0	validated		synonymous	
GNA15		inserm.fr	GRCh37	19	3136511	3136511	+	synonymous_variant	Silent	SNP	C	A	A			CHC322T																					ENST00000262958.3:c.63C>A	p.Ala21=	p.A21=	ENST00000262958	NM_002068.2	21	gcC/gcA	0	validated		synonymous	
ITGAX		inserm.fr	GRCh37	16	31372443	31372443	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000268296.4:c.921G>A	p.Lys307=	p.K307=	ENST00000268296	NM_000887.3	307	aaG/aaA	0	not done		synonymous	
DNMT3B		inserm.fr	GRCh37	20	31375191	31375191	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000328111.2:c.588G>A	p.Gln196=	p.Q196=	ENST00000328111	NM_006892.3	196	caG/caA	0	not done		synonymous	
ZSCAN10		inserm.fr	GRCh37	16	3139160	3139160	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1568T																					ENST00000252463.2:c.2110C>T	p.Arg704Cys	p.R704C	ENST00000252463	NM_032805.1	704	Cgc/Tgc	0	not done		probablydamaging	
ITGAX		inserm.fr	GRCh37	16	31391677	31391677	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM423T																					ENST00000268296.4:c.3151C>A	p.Leu1051Ile	p.L1051I	ENST00000268296	NM_000887.3	1051	Ctc/Atc	0	validated		probablydamaging	
ITGAX		inserm.fr	GRCh37	16	31392258	31392258	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM703T																					ENST00000268296.4:c.3317C>A	p.Thr1106Asn	p.T1106N	ENST00000268296	NM_000887.3	1106	aCc/aAc	0	validated		possiblydamaging	
ZSCAN10		inserm.fr	GRCh37	16	3139588	3139588	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1040T																					ENST00000252463.2:c.1682G>T	p.Gly561Val	p.G561V	ENST00000252463	NM_032805.1	561	gGc/gTc	0	not done		benign	
ITGAD		inserm.fr	GRCh37	16	31409194	31409194	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1600T																					ENST00000389202.2:c.391T>A	p.Trp131Arg	p.W131R	ENST00000389202	NM_005353.2	131	Tgg/Agg	0	not done		benign	
CAPN14		inserm.fr	GRCh37	2	31414920	31414920	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM703T																					ENST00000403897.3:c.1159C>T	p.Pro387Ser	p.P387S	ENST00000403897	NM_001145122.1	387	Ccc/Tcc	0	validated		benign	
CAPN14		inserm.fr	GRCh37	2	31420153	31420153	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000403897.3:c.837C>T	p.Pro279=	p.P279=	ENST00000403897	NM_001145122.1	279	ccC/ccT	0	not done		synonymous	
ITGAD		inserm.fr	GRCh37	16	31422187	31422187	+	synonymous_variant	Silent	SNP	C	A	A			CHC798T																					ENST00000389202.2:c.1344C>A	p.Val448=	p.V448=	ENST00000389202	NM_005353.2	448	gtC/gtA	0	validated		synonymous	
ITGAD		inserm.fr	GRCh37	16	31422473	31422473	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000389202.2:c.1433G>A	p.Gly478Glu	p.G478E	ENST00000389202	NM_005353.2	478	gGg/gAg	0	not done		probablydamaging	
ITGAD		inserm.fr	GRCh37	16	31424191	31424191	+	synonymous_variant	Silent	SNP	G	A	A			CHC1192T																					ENST00000389202.2:c.1740G>A	p.Leu580=	p.L580=	ENST00000389202	NM_005353.2	580	ctG/ctA	0	not done		synonymous	
CAPN14		inserm.fr	GRCh37	2	31425975	31425975	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC059T																					ENST00000403897.3:c.256G>T	p.Ala86Ser	p.A86S	ENST00000403897	NM_001145122.1	86	Gcc/Tcc	0	validated		benign	
ITGAD		inserm.fr	GRCh37	16	31434939	31434939	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM399T																					ENST00000389202.2:c.3015C>A	p.Phe1005Leu	p.F1005L	ENST00000389202	NM_005353.2	1005	ttC/ttA	0	validated		probablydamaging	
ARMC5		inserm.fr	GRCh37	16	31473811	31473811	+	synonymous_variant	Silent	SNP	C	A	A			BCM791T																					ENST00000268314.4:c.943C>A	p.Arg315=	p.R315=	ENST00000268314	NM_001105247.1	315	Cgg/Agg	0	validated		synonymous	
ARMC5		inserm.fr	GRCh37	16	31473912	31473912	+	synonymous_variant	Silent	SNP	G	A	A			CHC1616T																					ENST00000268314.4:c.1044G>A	p.Leu348=	p.L348=	ENST00000268314	NM_001105247.1	348	ctG/ctA	0	not done		synonymous	
SMTN		inserm.fr	GRCh37	22	31487235	31487235	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000358743.1:c.1226G>A	p.Ser409Asn	p.S409N	ENST00000358743	NM_134270.2	409	aGc/aAc	0	not done		probablydamaging	
MYOM1		inserm.fr	GRCh37	18	3149174	3149174	+	synonymous_variant	Silent	SNP	T	A	A			CHC1604T																					ENST00000356443.4:c.1869A>T	p.Gly623=	p.G623=	ENST00000356443	NM_019856.1	623	ggA/ggT	0	not done		synonymous	
SMTN		inserm.fr	GRCh37	22	31492874	31492874	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000358743.1:c.2017G>A	p.Val673Ile	p.V673I	ENST00000358743	NM_134270.2	673	Gtc/Atc	0	not done		benign	
SLC5A2		inserm.fr	GRCh37	16	31497079	31497079	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000330498.3:c.333G>A	p.Trp111Ter	p.W111*	ENST00000330498	NM_003041.3	111	tgG/tgA	0	not done		damaging	
NRG1		inserm.fr	GRCh37	8	31497623	31497623	+	synonymous_variant	Silent	SNP	C	A	A			CHC1568T																					ENST00000520407.1:c.123C>A	p.Thr41=	p.T41=	ENST00000520407	NM_013962.2	41	acC/acA	0	validated		synonymous	
NRG1		inserm.fr	GRCh37	8	31498020	31498020	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000520407.1:c.520G>A	p.Gly174Ser	p.G174S	ENST00000520407	NM_013962.2	174	Ggc/Agc	0	not done			
SLC5A2		inserm.fr	GRCh37	16	31499738	31499738	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000330498.3:c.1056G>A	p.Arg352=	p.R352=	ENST00000330498	NM_003041.3	352	agG/agA	0	not done		synonymous	
SELM		inserm.fr	GRCh37	22	31503475	31503475	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1708T																					ENST00000402395.1:c.17C>T	p.Pro6Leu	p.P6L	ENST00000402395		6	cCt/cTt	0	not done		benign	
DMD		inserm.fr	GRCh37	X	31514964	31514964	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC322T									Valid												ENST00000357033.4:c.8488C>T	p.Arg2830Trp	p.R2830W	ENST00000357033	NM_004007.2	2830	Cgg/Tgg	0	validated		probablydamaging	
INPP5J		inserm.fr	GRCh37	22	31519053	31519053	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1028T																					ENST00000404390.3:c.53T>A	p.Leu18Gln	p.L18Q	ENST00000404390	NM_001002837.1	18	cTg/cAg	0	not done		probablydamaging	
CLDN17		inserm.fr	GRCh37	21	31538788	31538788	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000286808.3:c.148C>T	p.Leu50Phe	p.L50F	ENST00000286808	NM_012131.2	50	Ctc/Ttc	0	not done		probablydamaging	
TEX26		inserm.fr	GRCh37	13	31540436	31540436	+	synonymous_variant	Silent	SNP	C	A	A			CHC805T																					ENST00000380473.3:c.547C>A	p.Arg183=	p.R183=	ENST00000380473	NM_152325.1	183	Cga/Aga	0	not done		synonymous	
TNF		inserm.fr	GRCh37	6	31543520	31543520	+	start_lost	Translation_Start_Site	SNP	T	A	A			CHC1704T																					ENST00000449264.2:c.2T>A	p.Met1?	p.M1?	ENST00000449264	NM_000594.3	1	aTg/aAg	0	not done		probablydamaging	
SUN5		inserm.fr	GRCh37	20	31577440	31577440	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000356173.3:c.599C>T	p.Ala200Val	p.A200V	ENST00000356173	NM_080675.3	200	gCc/gTc	0	not done		probablydamaging	
RNF185		inserm.fr	GRCh37	22	31583094	31583094	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000326132.6:c.14G>A	p.Gly5Glu	p.G5E	ENST00000326132	NM_152267.3	5	gGg/gAg	0	not done		possiblydamaging	
PFKP		inserm.fr	GRCh37	10	3159002	3159002	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000381125.4:c.1406G>A	p.Trp469Ter	p.W469*	ENST00000381125	NM_002627.4	469	tGg/tAg	0	not done		damaging	
PRRC2A		inserm.fr	GRCh37	6	31592071	31592071	+	synonymous_variant	Silent	SNP	G	A	A			CHC2052T																					ENST00000376033.2:c.324G>A	p.Ser108=	p.S108=	ENST00000376033	NM_004638.3	108	tcG/tcA	0	not done		synonymous	
CCDC129		inserm.fr	GRCh37	7	31592768	31592768	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC432T																					ENST00000451887.2:c.208G>A	p.Glu70Lys	p.E70K	ENST00000451887	NM_001257968.1	70	Gag/Aag	0	not done		possiblydamaging	
DENND5B		inserm.fr	GRCh37	12	31605088	31605088	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM375T																					ENST00000389082.5:c.1415A>T	p.Asp472Val	p.D472V	ENST00000389082	NM_144973.3	472	gAc/gTc	0	validated		benign	
PRRC2A		inserm.fr	GRCh37	6	31605341	31605341	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC314T									Valid												ENST00000376033.2:c.6452C>A	p.Pro2151His	p.P2151H	ENST00000376033	NM_004638.3	2151	cCt/cAt	0	validated		probablydamaging	
HECTD1		inserm.fr	GRCh37	14	31605810	31605810	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1715T																					ENST00000399332.1:c.3041A>T	p.Asp1014Val	p.D1014V	ENST00000399332	NM_015382.2	1014	gAc/gTc	0	not done		probablydamaging	
BPIFB2		inserm.fr	GRCh37	20	31606443	31606443	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000170150.3:c.670G>A	p.Ala224Thr	p.A224T	ENST00000170150	NM_025227.2	224	Gct/Act	0	not done		probablydamaging	
BPIFB2		inserm.fr	GRCh37	20	31607453	31607453	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC909T																					ENST00000170150.3:c.977C>A	p.Ala326Asp	p.A326D	ENST00000170150	NM_025227.2	326	gCc/gAc	0	not done		possiblydamaging	
ASIC2		inserm.fr	GRCh37	17	31618972	31618972	+	synonymous_variant	Silent	SNP	G	A	A			CHC327T																					ENST00000225823.2:c.162C>T	p.Ala54=	p.A54=	ENST00000225823	NM_183377.1	54	gcC/gcT	0	validated		synonymous	
CCDC129		inserm.fr	GRCh37	7	31622786	31622786	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC258T									Valid												ENST00000451887.2:c.1287C>A	p.Asp429Glu	p.D429E	ENST00000451887	NM_001257968.1	429	gaC/gaA	0	validated		benign	
BPIFB3		inserm.fr	GRCh37	20	31644455	31644455	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000375494.3:c.232G>A	p.Gly78Ser	p.G78S	ENST00000375494	NM_182658.1	78	Ggc/Agc	0	validated		probablydamaging	
BPIFB3		inserm.fr	GRCh37	20	31652501	31652501	+	synonymous_variant	Silent	SNP	C	A	A			CHC218T																					ENST00000375494.3:c.774C>A	p.Ile258=	p.I258=	ENST00000375494	NM_182658.1	258	atC/atA	0	not done		synonymous	
BPIFB3		inserm.fr	GRCh37	20	31654646	31654646	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM337T									Valid												ENST00000375494.3:c.941C>A	p.Pro314Gln	p.P314Q	ENST00000375494	NM_182658.1	314	cCa/cAa	0	validated		probablydamaging	
NKAIN1		inserm.fr	GRCh37	1	31660954	31660954	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1741T																					ENST00000373736.2:c.135G>T	p.Met45Ile	p.M45I	ENST00000373736	NM_024522.2	45	atG/atT	0	not done		probablydamaging	
KRTAP25-1		inserm.fr	GRCh37	21	31661585	31661585	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000416044.1:c.224C>T	p.Pro75Leu	p.P75L	ENST00000416044	NM_001128598.1	75	cCt/cTt	0	not done		benign	
LIMK2		inserm.fr	GRCh37	22	31671155	31671155	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000340552.4:c.1570G>A	p.Ala524Thr	p.A524T	ENST00000340552	NM_001031801.1	524	Gca/Aca	0	not done		probablydamaging	
BPIFB4		inserm.fr	GRCh37	20	31671398	31671398	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1746T																					ENST00000375483.3:c.395G>A	p.Gly132Asp	p.G132D	ENST00000375483	NM_182519.2	132	gGc/gAc	0	not done		benign	
LY6G6F		inserm.fr	GRCh37	6	31678189	31678189	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1205T																					ENST00000375832.4:c.863G>A	p.Arg288His	p.R288H	ENST00000375832	NM_001003693.1	288	cGt/cAt	0	not done		benign	
CCDC129		inserm.fr	GRCh37	7	31682522	31682522	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000451887.2:c.1616G>A	p.Gly539Glu	p.G539E	ENST00000451887	NM_001257968.1	539	gGg/gAg	0	not done		benign	
CCDC129		inserm.fr	GRCh37	7	31682954	31682954	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000451887.2:c.2048C>A	p.Ala683Asp	p.A683D	ENST00000451887	NM_001257968.1	683	gCt/gAt	0	not done		benign	
CCDC129		inserm.fr	GRCh37	7	31683497	31683497	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000451887.2:c.2591G>A	p.Gly864Asp	p.G864D	ENST00000451887	NM_001257968.1	864	gGt/gAt	0	not done		benign	
PIK3IP1		inserm.fr	GRCh37	22	31687040	31687040	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1744T																					ENST00000215912.5:c.218C>T	p.Pro73Leu	p.P73L	ENST00000215912	NM_052880.4	73	cCg/cTg	0	not done		probablydamaging	
C6orf25		inserm.fr	GRCh37	6	31691920	31691920	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC437T																					ENST00000375806.2:c.411G>A	p.Gly137=	p.G137=	ENST00000375806		137	ggG/ggA	0	not done		possiblydamaging	
C6orf25		inserm.fr	GRCh37	6	31691972	31691972	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000375806.2:c.463G>A	p.Gly155Arg	p.G155R	ENST00000375806		155	Gga/Aga	0	not done		probablydamaging	
CCDC129		inserm.fr	GRCh37	7	31692338	31692338	+	intron_variant	Intron	SNP	G	A	A			CHC1602T																					ENST00000451887.2:c.3067+41G>A		*1023*	ENST00000451887	NM_001257968.1			0	not done		synonymous	
CCDC129		inserm.fr	GRCh37	7	31692374	31692374	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000451887.2:c.3067+77G>A		*1023*	ENST00000451887	NM_001257968.1			0	not done		damaging	
MSH5		inserm.fr	GRCh37	6	31708297	31708297	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000375703.3:c.54G>A	p.Gly18=	p.G18=	ENST00000375703		18	ggG/ggA	0	not done		synonymous	
MSH5		inserm.fr	GRCh37	6	31708967	31708967	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000375703.3:c.175G>A	p.Gly59Arg	p.G59R	ENST00000375703		59	Gga/Aga	0	not done		benign	
TSHZ3		inserm.fr	GRCh37	19	31769759	31769759	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2215T																					ENST00000240587.4:c.940G>T	p.Ala314Ser	p.A314S	ENST00000240587	NM_020856.2	314	Gcc/Tcc	0	not done		benign	
OSBPL10		inserm.fr	GRCh37	3	31789420	31789420	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1624T																					ENST00000396556.2:c.922C>T	p.Gln308Ter	p.Q308*	ENST00000396556	NM_017784.4	308	Cag/Tag	0	validated		damaging	
S1PR4		inserm.fr	GRCh37	19	3179461	3179461	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000246115.3:c.671G>A	p.Gly224Glu	p.G224E	ENST00000246115	NM_003775.3	224	gGg/gAg	0	not done		possiblydamaging	
HEATR5A		inserm.fr	GRCh37	14	31795507	31795507	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC320T																					ENST00000389961.3:c.3391A>T	p.Ile1131Phe	p.I1131F	ENST00000389961		1131	Atc/Ttc	0	validated		benign	
PDZD2		inserm.fr	GRCh37	5	31799654	31799654	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000438447.1:c.299G>A	p.Arg100His	p.R100H	ENST00000438447		100	cGc/cAc	0	not done		probablydamaging	
KRTAP13-4		inserm.fr	GRCh37	21	31802761	31802761	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000334068.2:c.168G>A	p.Trp56Ter	p.W56*	ENST00000334068	NM_181600.1	56	tgG/tgA	0	not done		damaging	
KRBOX5		inserm.fr	GRCh37	16	31805091	31805091	+	downstream_gene_variant	3'Flank	SNP	T	A	A			CHC1756T																								ENST00000570073				0	not done			
ZEB1		inserm.fr	GRCh37	10	31810416	31810416	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1209T																					ENST00000361642.5:c.2156G>A	p.Gly719Asp	p.G719D	ENST00000361642	NM_001174093.1	719	gGt/gAt	0	not done		probablydamaging	
OTUD7A		inserm.fr	GRCh37	15	31818576	31818576	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM545T																					ENST00000307050.4:c.848G>T	p.Ser283Ile	p.S283I	ENST00000307050	NM_130901.1	283	aGc/aTc	0	validated		probablydamaging	
BPIFA1		inserm.fr	GRCh37	20	31828092	31828092	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC796T									Valid												ENST00000354297.4:c.482C>A	p.Ala161Glu	p.A161E	ENST00000354297	NM_130852.2	161	gCa/gAa	0	validated		probablydamaging	
PITRM1		inserm.fr	GRCh37	10	3182931	3182931	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1744T																					ENST00000380989.2:c.2722G>T	p.Gly908Cys	p.G908C	ENST00000380989	NM_014889.3	908	Ggt/Tgt	0	not done		probablydamaging	
DDRGK1		inserm.fr	GRCh37	20	3183971	3183971	+	synonymous_variant	Silent	SNP	T	A	A			CHC1629T																					ENST00000354488.3:c.183A>T	p.Gly61=	p.G61=	ENST00000354488	NM_023935.1	61	ggA/ggT	0	not done		synonymous	
KRTAP19-1		inserm.fr	GRCh37	21	31852555	31852555	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC2208T																					ENST00000390689.2:c.82G>T	p.Gly28Ter	p.G28*	ENST00000390689	NM_181607.1	28	Gga/Tga	0	not done		damaging	
KRTAP19-3		inserm.fr	GRCh37	21	31864204	31864204	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000334063.4:c.72C>T	p.Gly24=	p.G24=	ENST00000334063	NM_181609.3	24	ggC/ggT	0	not done		synonymous	
KRTAP19-5		inserm.fr	GRCh37	21	31874381	31874381	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM439T																					ENST00000334151.2:c.28G>T	p.Gly10Cys	p.G10C	ENST00000334151	NM_181611.1	10	Ggc/Tgc	0	validated		probablydamaging	
PDE1C		inserm.fr	GRCh37	7	31877549	31877549	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000396193.1:c.1197C>T	p.Ala399=	p.A399=	ENST00000396193	NM_001191058.1	399	gcC/gcT	0	not done		synonymous	
BPIFB1		inserm.fr	GRCh37	20	31879795	31879795	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000253354.1:c.597+1G>A		p.X199_splice	ENST00000253354	NM_033197.2			0	not done		damaging	
BPIFB1		inserm.fr	GRCh37	20	31889172	31889172	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000253354.1:c.881C>A	p.Ala294Asp	p.A294D	ENST00000253354	NM_033197.2	294	gCt/gAt	0	not done		benign	
BPIFB1		inserm.fr	GRCh37	20	31889204	31889204	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM337T									Valid												ENST00000253354.1:c.913C>A	p.Leu305Met	p.L305M	ENST00000253354	NM_033197.2	305	Ctg/Atg	0	validated		probablydamaging	
CXorf28		inserm.fr	GRCh37	X	3189880	3189880	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000457435.1:c.7G>A	p.Glu3Lys	p.E3K	ENST00000457435		3	Gag/Aag	0	not done			
C2		inserm.fr	GRCh37	6	31901984	31901984	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC320T									Valid												ENST00000299367.5:c.757C>A	p.Leu253Met	p.L253M	ENST00000299367	NM_000063.4	253	Ctg/Atg	0	validated		benign	
PDE1C		inserm.fr	GRCh37	7	31918638	31918638	+	synonymous_variant	Silent	SNP	G	A	A			CHC361TA																					ENST00000396193.1:c.576C>T	p.His192=	p.H192=	ENST00000396193	NM_001191058.1	192	caC/caT	0	validated		synonymous	
NELFE		inserm.fr	GRCh37	6	31922458	31922458	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC437T																					ENST00000375429.3:c.616C>T	p.Arg206Ter	p.R206*	ENST00000375429	NM_002904.5	206	Cga/Tga	0	not done		damaging	
NCLN		inserm.fr	GRCh37	19	3192505	3192505	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000246117.4:c.222G>A	p.Thr74=	p.T74=	ENST00000246117	NM_020170.3	74	acG/acA	0	not done		synonymous	
NCLN		inserm.fr	GRCh37	19	3192650	3192650	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000246117.4:c.367G>A	p.Val123Ile	p.V123I	ENST00000246117	NM_020170.3	123	Gtc/Atc	0	validated		benign	
RGS11		inserm.fr	GRCh37	16	319331	319331	+	synonymous_variant	Silent	SNP	G	A	A			CHC197T																					ENST00000397770.3:c.1341C>T	p.Leu447=	p.L447=	ENST00000397770		447	ctC/ctT	0	validated		synonymous	
GPR33		inserm.fr	GRCh37	14	31952284	31952284	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000399285.2:c.888C>T	p.Pro296=	p.P296=	ENST00000399285	NM_001197184.2	296	ccC/ccT	0	not done		synonymous	
GPR33		inserm.fr	GRCh37	14	31953074	31953074	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB325T																					ENST00000399285.2:c.98C>T	p.Ala33Val	p.A33V	ENST00000399285	NM_001197184.2	33	gCc/gTc	0	validated			
OR3A1		inserm.fr	GRCh37	17	3195468	3195468	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM723T																					ENST00000323404.1:c.409A>T	p.Thr137Ser	p.T137S	ENST00000323404	NM_002550.2	137	Acc/Tcc	0	validated		benign	
SFI1		inserm.fr	GRCh37	22	31957290	31957290	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000400288.2:c.677C>A	p.Thr226Lys	p.T226K	ENST00000400288	NM_001007467.2	226	aCg/aAg	0	not done		benign	
TSSC1		inserm.fr	GRCh37	2	3196304	3196304	+	synonymous_variant	Silent	SNP	C	A	A			CHC1083T																					ENST00000382125.4:c.870G>T	p.Thr290=	p.T290=	ENST00000382125	NM_003310.2	290	acG/acT	0	validated		synonymous	
TNXB		inserm.fr	GRCh37	6	31976398	31976398	+	non_coding_transcript_exon_variant	RNA	SNP	C	A	A			CHC155T																					ENST00000507684.1:n.2031G>T		*677*	ENST00000507684				0	validated		probablydamaging	
AC091801.1		inserm.fr	GRCh37	7	3197822	3197822	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000402115.1:c.41C>T	p.Pro14Leu	p.P14L	ENST00000402115		14	cCt/cTt	0	not done		synonymous	
KRTAP20-2		inserm.fr	GRCh37	21	32007604	32007604	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1720T																					ENST00000330798.2:c.22T>A	p.Tyr8Asn	p.Y8N	ENST00000330798	NM_181616.1	8	Tat/Aat	0	not done		probablydamaging	
PDZD2		inserm.fr	GRCh37	5	32010500	32010500	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2029T																					ENST00000438447.1:c.1319T>A	p.Val440Glu	p.V440E	ENST00000438447		440	gTa/gAa	0	not done		possiblydamaging	
PITRM1		inserm.fr	GRCh37	10	3202086	3202086	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T									Valid												ENST00000380989.2:c.961G>T	p.Asp321Tyr	p.D321Y	ENST00000380989	NM_014889.3	321	Gat/Tat	0	validated		probablydamaging	
TNXB		inserm.fr	GRCh37	6	32029976	32029976	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC301T									Valid												ENST00000375244.3:c.7126G>T	p.Gly2376Cys	p.G2376C	ENST00000375244		2376	Ggt/Tgt	0	validated		probablydamaging	
TINAGL1		inserm.fr	GRCh37	1	32044845	32044845	+	synonymous_variant	Silent	SNP	G	A	A			BCB301T																					ENST00000271064.7:c.351G>A	p.Thr117=	p.T117=	ENST00000271064	NM_022164.2	117	acG/acA	0	validated		synonymous	
NCLN		inserm.fr	GRCh37	19	3204674	3204674	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000246117.4:c.1133G>A	p.Arg378His	p.R378H	ENST00000246117	NM_020170.3	378	cGc/cAc	0	not done		probablydamaging	
TNXB		inserm.fr	GRCh37	6	32052304	32052304	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000375244.3:c.3331C>T	p.Pro1111Ser	p.P1111S	ENST00000375244		1111	Ccc/Tcc	0	not done		benign	
TNXB		inserm.fr	GRCh37	6	32052315	32052315	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1191T																					ENST00000375244.3:c.3320C>T	p.Pro1107Leu	p.P1107L	ENST00000375244		1107	cCc/cTc	0	not done		possiblydamaging	
TNXB		inserm.fr	GRCh37	6	32065712	32065712	+	synonymous_variant	Silent	SNP	G	A	A			CHC1746T																					ENST00000375244.3:c.264C>T	p.Pro88=	p.P88=	ENST00000375244		88	ccC/ccT	0	not done		synonymous	
TNXB		inserm.fr	GRCh37	6	32065861	32065861	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM337T																					ENST00000375244.3:c.115C>T	p.Pro39Ser	p.P39S	ENST00000375244		39	Ccc/Tcc	0	validated		possiblydamaging	
ATF6B		inserm.fr	GRCh37	6	32083570	32083570	+	synonymous_variant	Silent	SNP	T	A	A			CHC902T																					ENST00000375203.3:c.2058A>T	p.Ala686=	p.A686=	ENST00000375203	NM_001136153.1	686	gcA/gcT	0	not done		synonymous	
PDZD2		inserm.fr	GRCh37	5	32088993	32088993	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM483T									Valid												ENST00000438447.1:c.5439T>A	p.His1813Gln	p.H1813Q	ENST00000438447		1813	caT/caA	0	validated		probablydamaging	
KRTAP21-3		inserm.fr	GRCh37	21	32090920	32090920	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000444335.1:c.158C>T	p.Ala53Val	p.A53V	ENST00000444335	NM_001164435.1	53	gCt/gTt	0	not done			
SLC4A11		inserm.fr	GRCh37	20	3209492	3209492	+	synonymous_variant	Silent	SNP	G	A	A			CHC059T																					ENST00000380059.3:c.2313C>T	p.Ile771=	p.I771=	ENST00000380059	NM_001174090.1	771	atC/atT	0	validated		synonymous	
FKBPL		inserm.fr	GRCh37	6	32097368	32097368	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1611T																					ENST00000375156.3:c.190C>T	p.Gln64Ter	p.Q64*	ENST00000375156	NM_022110.3	64	Caa/Taa	0	not done		damaging	
PRR14L		inserm.fr	GRCh37	22	32097666	32097666	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000327423.6:c.6083C>T	p.Pro2028Leu	p.P2028L	ENST00000327423	NM_173566.2	2028	cCc/cTc	0	not done		probablydamaging	
HTT		inserm.fr	GRCh37	4	3210605	3210605	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000355072.5:c.6258G>A	p.Gly2086=	p.G2086=	ENST00000355072	NM_002111.6	2086	ggG/ggA	0	not done		synonymous	
PRR14L		inserm.fr	GRCh37	22	32110274	32110274	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1742T																					ENST00000327423.6:c.3551A>T	p.Gln1184Leu	p.Q1184L	ENST00000327423	NM_173566.2	1184	cAa/cTa	0	not done		probablydamaging	
RCN1		inserm.fr	GRCh37	11	32112977	32112977	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1739T																					ENST00000054950.3:c.235G>A	p.Glu79Lys	p.E79K	ENST00000054950	NM_002901.2	79	Gag/Aag	0	not done		probablydamaging	
COL16A1		inserm.fr	GRCh37	1	32124112	32124112	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373672.3:c.3997C>T	p.Pro1333Ser	p.P1333S	ENST00000373672	NM_001856.3	1333	Ccc/Tcc	0	not done		benign	
KIAA1551		inserm.fr	GRCh37	12	32138265	32138265	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2128T																					ENST00000312561.4:c.4376T>A	p.Leu1459Gln	p.L1459Q	ENST00000312561	NM_018169.3	1459	cTg/cAg	0	not done		benign	
COL16A1		inserm.fr	GRCh37	1	32151364	32151364	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1731T																					ENST00000373672.3:c.1892C>T	p.Pro631Leu	p.P631L	ENST00000373672	NM_001856.3	631	cCc/cTc	0	not done		possiblydamaging	
COL16A1		inserm.fr	GRCh37	1	32160815	32160815	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373672.3:c.953C>T	p.Pro318Leu	p.P318L	ENST00000373672	NM_001856.3	318	cCc/cTc	0	not done		probablydamaging	
NOTCH4		inserm.fr	GRCh37	6	32169149	32169149	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000375023.3:c.3884C>T	p.Pro1295Leu	p.P1295L	ENST00000375023	NM_004557.3	1295	cCc/cTc	0	not done		benign	
SLC4A11		inserm.fr	GRCh37	20	3218648	3218648	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000380059.3:c.63C>T	p.Pro21=	p.P21=	ENST00000380059	NM_001174090.1	21	ccC/ccT	0	not done		synonymous	
DEPDC5		inserm.fr	GRCh37	22	32193629	32193629	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1185T																					ENST00000382112.3:c.811C>A	p.Leu271Ile	p.L271I	ENST00000382112	NM_001136029.2	271	Ctc/Atc	0	not done		possiblydamaging	
CBFA2T2		inserm.fr	GRCh37	20	32199139	32199139	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000346541.3:c.445G>A	p.Val149Met	p.V149M	ENST00000346541	NM_005093.3	149	Gtg/Atg	0	not done		probablydamaging	
BAI2		inserm.fr	GRCh37	1	32207570	32207570	+	splice_acceptor_variant	Splice_Site	SNP	T	A	A			CHC433T									Valid												ENST00000373658.3:c.1418-2A>T		p.X473_splice	ENST00000373658	NM_001703.2			0	validated		damaging	
BAI2		inserm.fr	GRCh37	1	32207719	32207719	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373658.3:c.1352C>T	p.Pro451Leu	p.P451L	ENST00000373658	NM_001703.2	451	cCa/cTa	0	not done		benign	
BAI2		inserm.fr	GRCh37	1	32209864	32209864	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000373658.3:c.1017C>T	p.Ser339=	p.S339=	ENST00000373658	NM_001703.2	339	tcC/tcT	0	not done		synonymous	
BAI2		inserm.fr	GRCh37	1	32221746	32221746	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373658.3:c.692C>T	p.Ala231Val	p.A231V	ENST00000373658	NM_001703.2	231	gCc/gTc	0	not done		benign	
CELF5		inserm.fr	GRCh37	19	3224984	3224984	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1568T																					ENST00000292672.2:c.247G>A	p.Gly83Arg	p.G83R	ENST00000292672	NM_021938.3	83	Ggg/Agg	0	not done		possiblydamaging	
TUBB2B		inserm.fr	GRCh37	6	3225094	3225094	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1603T																					ENST00000259818.7:c.1229A>T	p.Glu410Val	p.E410V	ENST00000259818	NM_178012.4	410	gAg/gTg	0	not done		probablydamaging	
KRTAP11-1		inserm.fr	GRCh37	21	32253540	32253540	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC923T																					ENST00000332378.4:c.304C>T	p.Arg102Trp	p.R102W	ENST00000332378	NM_175858.2	102	Cgg/Tgg	0	not done		probablydamaging	
KRTAP11-1		inserm.fr	GRCh37	21	32253553	32253553	+	synonymous_variant	Silent	SNP	T	A	A			CHC121T																					ENST00000332378.4:c.291A>T	p.Ser97=	p.S97=	ENST00000332378	NM_175858.2	97	tcA/tcT	0	validated		synonymous	
SPOCD1		inserm.fr	GRCh37	1	32256822	32256822	+	synonymous_variant	Silent	SNP	C	A	A			CHC1568T																					ENST00000360482.2:c.3033G>T	p.Leu1011=	p.L1011=	ENST00000360482	NM_144569.4	1011	ctG/ctT	0	not done		synonymous	
SPOCD1		inserm.fr	GRCh37	1	32264183	32264183	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000360482.2:c.1888C>T	p.Pro630Ser	p.P630S	ENST00000360482	NM_144569.4	630	Cca/Tca	0	not done		benign	
MXRA5		inserm.fr	GRCh37	X	3227763	3227763	+	synonymous_variant	Silent	SNP	G	A	A			CHC301T																					ENST00000217939.6:c.8481C>T	p.Val2827=	p.V2827=	ENST00000217939	NM_015419.3	2827	gtC/gtT	0	validated		synonymous	
SPOCD1		inserm.fr	GRCh37	1	32280035	32280035	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000360482.2:c.900C>T	p.Pro300=	p.P300=	ENST00000360482	NM_144569.4	300	ccC/ccT	0	not done		synonymous	
MXRA5		inserm.fr	GRCh37	X	3228079	3228079	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000217939.6:c.8165C>T	p.Thr2722Ile	p.T2722I	ENST00000217939	NM_015419.3	2722	aCc/aTc	0	not done		benign	
MXRA5		inserm.fr	GRCh37	X	3228648	3228648	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1190T																					ENST00000217939.6:c.7596G>T	p.Gln2532His	p.Q2532H	ENST00000217939	NM_015419.3	2532	caG/caT	0	validated		possiblydamaging	
KIF5B		inserm.fr	GRCh37	10	32310009	32310009	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1763T																					ENST00000302418.4:c.2145G>T	p.Gln715His	p.Q715H	ENST00000302418	NM_004521.2	715	caG/caT	0	not done		probablydamaging	
CHRNA7		inserm.fr	GRCh37	15	32322848	32322848	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000454250.3:c.51G>A	p.Leu17=	p.L17=	ENST00000454250	NM_001190455.2	17	ctG/ctA	0	not done		synonymous	
CHRNA7		inserm.fr	GRCh37	15	32322929	32322929	+	synonymous_variant	Silent	SNP	G	A	A			BCM375T																					ENST00000454250.3:c.132G>A	p.Ala44=	p.A44=	ENST00000454250	NM_001190455.2	44	gcG/gcA	0	validated		synonymous	
ZNF341		inserm.fr	GRCh37	20	32354832	32354832	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000342427.2:c.1377G>A	p.Gln459=	p.Q459=	ENST00000342427	NM_032819.3	459	caG/caA	0	not done		synonymous	
BTNL2		inserm.fr	GRCh37	6	32362552	32362552	+	synonymous_variant	Silent	SNP	G	A	A			CHC155T																					ENST00000454136.3:c.1329C>T	p.Gly443=	p.G443=	ENST00000454136		443	ggC/ggT	0	validated		synonymous	
BTNL2		inserm.fr	GRCh37	6	32369561	32369561	+	splice_donor_variant	Splice_Site	SNP	C	A	A			BCM489T									Valid												ENST00000454136.3:c.730+1G>T		p.X244_splice	ENST00000454136				0	validated		damaging	
MXRA5		inserm.fr	GRCh37	X	3238530	3238530	+	synonymous_variant	Silent	SNP	G	A	A			BCB151T																					ENST00000217939.6:c.5196C>T	p.Phe1732=	p.F1732=	ENST00000217939	NM_015419.3	1732	ttC/ttT	0	validated		synonymous	
MXRA5		inserm.fr	GRCh37	X	3239862	3239862	+	synonymous_variant	Silent	SNP	G	A	A			CHC1055T																					ENST00000217939.6:c.3864C>T	p.Gly1288=	p.G1288=	ENST00000217939	NM_015419.3	1288	ggC/ggT	0	validated		synonymous	
NRG1		inserm.fr	GRCh37	8	32406296	32406296	+	synonymous_variant	Silent	SNP	C	A	A			CHC1035T																					ENST00000356819.4:c.52C>A	p.Arg18=	p.R18=	ENST00000356819	NM_013956.3	18	Cga/Aga	0	validated		synonymous	
WT1		inserm.fr	GRCh37	11	32417861	32417861	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000332351.3:c.1191C>T	p.Gly397=	p.G397=	ENST00000332351	NM_024426.4	397	ggC/ggT	0	not done		synonymous	
CMTM7		inserm.fr	GRCh37	3	32433462	32433462	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC801T																					ENST00000334983.5:c.64G>A	p.Ala22Thr	p.A22T	ENST00000334983	NM_138410.2	22	Gcc/Acc	0	validated		benign	
CHMP4B		inserm.fr	GRCh37	20	32436397	32436397	+	synonymous_variant	Silent	SNP	G	A	A			BCM375T																					ENST00000217402.2:c.315G>A	p.Val105=	p.V105=	ENST00000217402	NM_176812.4	105	gtG/gtA	0	validated		synonymous	
WT1		inserm.fr	GRCh37	11	32449584	32449584	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000332351.3:c.790C>T	p.Pro264Ser	p.P264S	ENST00000332351	NM_024426.4	264	Ccg/Tcg	0	not done		probablydamaging	
NLRC4		inserm.fr	GRCh37	2	32474721	32474721	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000404025.2:c.2212C>T	p.Leu738=	p.L738=	ENST00000404025		738	Ctg/Ttg	0	not done		synonymous	
HLA-DRB5		inserm.fr	GRCh37	6	32487181	32487181	+	synonymous_variant	Silent	SNP	G	A	A			CHC1719T																					ENST00000374975.3:c.618C>T	p.His206=	p.H206=	ENST00000374975	NM_002125.3	206	caC/caT	0	not done		synonymous	
NRG1		inserm.fr	GRCh37	8	32505766	32505766	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000356819.4:c.502+31363G>A		*168*	ENST00000356819	NM_013956.3			0	not done			
DMD		inserm.fr	GRCh37	X	32509537	32509537	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC327T									Valid												ENST00000357033.4:c.2479G>T	p.Glu827Ter	p.E827*	ENST00000357033	NM_004007.2	827	Gag/Tag	0	validated		damaging	
TOPORS		inserm.fr	GRCh37	9	32543297	32543297	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000360538.2:c.1226C>T	p.Ala409Val	p.A409V	ENST00000360538	NM_005802.4	409	gCc/gTc	0	not done		benign	
HLA-DRB1		inserm.fr	GRCh37	6	32548590	32548590	+	synonymous_variant	Silent	SNP	G	A	A			CHC465T																					ENST00000360004.5:c.696C>T	p.Val232=	p.V232=	ENST00000360004	NM_002124.3	232	gtC/gtT	0	validated		synonymous	
MSANTD1		inserm.fr	GRCh37	4	3255057	3255057	+	synonymous_variant	Silent	SNP	G	A	A			CHC1598T																					ENST00000438480.2:c.444G>A	p.Pro148=	p.P148=	ENST00000438480	NM_001042690.1	148	ccG/ccA	0	not done		synonymous	
TIAM1		inserm.fr	GRCh37	21	32554759	32554759	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC218T																					ENST00000286827.3:c.2866G>T	p.Ala956Ser	p.A956S	ENST00000286827	NM_003253.2	956	Gcc/Tcc	0	validated		benign	
HLA-DRB1		inserm.fr	GRCh37	6	32557436	32557436	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2115T																					ENST00000360004.5:c.84G>T	p.Leu28Phe	p.L28F	ENST00000360004	NM_002124.3	28	ttG/ttT	0	validated		benign	
ARHGAP5		inserm.fr	GRCh37	14	32560624	32560624	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000345122.3:c.749G>A	p.Arg250His	p.R250H	ENST00000345122	NM_001030055.1	250	cGt/cAt	0	validated		probablydamaging	
ARHGAP5		inserm.fr	GRCh37	14	32561489	32561489	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000345122.3:c.1614G>A	p.Arg538=	p.R538=	ENST00000345122	NM_001030055.1	538	agG/agA	0	not done		synonymous	
TIAM1		inserm.fr	GRCh37	21	32617975	32617975	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	A	A			CHC320T									Valid												ENST00000286827.3:c.1413A>T	p.Gly471=	p.G471=	ENST00000286827	NM_003253.2	471	ggA/ggT	0	validated		possiblydamaging	
C20orf194		inserm.fr	GRCh37	20	3262302	3262302	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000252032.9:c.2597G>T	p.Cys866Phe	p.C866F	ENST00000252032	NM_001009984.2	866	tGc/tTc	0	not done		probablydamaging	
KPNA6		inserm.fr	GRCh37	1	32628864	32628864	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373625.3:c.940G>A	p.Ala314Thr	p.A314T	ENST00000373625	NM_012316.4	314	Gcc/Acc	0	not done		probablydamaging	
KPNA6		inserm.fr	GRCh37	1	32628914	32628914	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC429T									Valid												ENST00000373625.3:c.990G>A	p.Gln330=	p.Q330=	ENST00000373625	NM_012316.4	330	caG/caA	0	validated		possiblydamaging	
TAF1L		inserm.fr	GRCh37	9	32630369	32630369	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000242310.4:c.5209C>T	p.Pro1737Ser	p.P1737S	ENST00000242310	NM_153809.2	1737	Cca/Tca	0	not done		benign	
TAF1L		inserm.fr	GRCh37	9	32630480	32630480	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000242310.4:c.5098C>T	p.Pro1700Ser	p.P1700S	ENST00000242310	NM_153809.2	1700	Cca/Tca	0	not done		benign	
TAF1L		inserm.fr	GRCh37	9	32631796	32631796	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1053T									Valid												ENST00000242310.4:c.3782A>T	p.Lys1261Met	p.K1261M	ENST00000242310	NM_153809.2	1261	aAg/aTg	0	validated		probablydamaging	
CSMD1		inserm.fr	GRCh37	8	3263557	3263557	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000537824.1:c.2258G>T	p.Arg753Leu	p.R753L	ENST00000537824	NM_033225.5	753	cGc/cTc	0	not done		probablydamaging	
BIRC6		inserm.fr	GRCh37	2	32640772	32640772	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000421745.2:c.2413G>A	p.Ala805Thr	p.A805T	ENST00000421745	NM_016252.3	805	Gca/Aca	0	not done		benign	
CCL8		inserm.fr	GRCh37	17	32647846	32647846	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC609T																					ENST00000394620.1:c.220G>A	p.Val74Ile	p.V74I	ENST00000394620	NM_005623.2	74	Gtc/Atc	0	validated		benign	
CSMD1		inserm.fr	GRCh37	8	3266956	3266956	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1915T																					ENST00000537824.1:c.1733C>T	p.Pro578Leu	p.P578L	ENST00000537824	NM_033225.5	578	cCc/cTc	0	validated		probablydamaging	
C1orf91		inserm.fr	GRCh37	1	32687533	32687533	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC197T																					ENST00000309777.6:c.103G>T	p.Val35Phe	p.V35F	ENST00000309777	NM_019118.3	35	Gtt/Ttt	0	validated		probablydamaging	
BIRC6		inserm.fr	GRCh37	2	32688321	32688321	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1602T																					ENST00000421745.2:c.4813G>A	p.Ala1605Thr	p.A1605T	ENST00000421745	NM_016252.3	1605	Gcc/Acc	0	not done		possiblydamaging	
BIRC6		inserm.fr	GRCh37	2	32689892	32689892	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000421745.2:c.5256+1G>A		p.X1752_splice	ENST00000421745	NM_016252.3			0	not done		damaging	
CCL1		inserm.fr	GRCh37	17	32690162	32690162	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1744T																					ENST00000225842.3:c.19G>T	p.Ala7Ser	p.A7S	ENST00000225842	NM_002981.2	7	Gcc/Tcc	0	not done		probablydamaging	
BIRC6		inserm.fr	GRCh37	2	32701310	32701310	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000421745.2:c.6750G>A	p.Lys2250=	p.K2250=	ENST00000421745	NM_016252.3	2250	aaG/aaA	0	not done		synonymous	
FRY		inserm.fr	GRCh37	13	32709065	32709065	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000380250.3:c.910G>A	p.Val304Ile	p.V304I	ENST00000380250	NM_023037.2	304	Gtc/Atc	0	not done		possiblydamaging	
NPR3		inserm.fr	GRCh37	5	32712572	32712572	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC793T																					ENST00000265074.8:c.690C>A	p.His230Gln	p.H230Q	ENST00000265074	NM_001204375.1	230	caC/caA	0	validated		probablydamaging	
BIRC6		inserm.fr	GRCh37	2	32712732	32712732	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1207T																					ENST00000421745.2:c.7832G>A	p.Gly2611Glu	p.G2611E	ENST00000421745	NM_016252.3	2611	gGa/gAa	0	not done		probablydamaging	
FAM167B		inserm.fr	GRCh37	1	32713226	32713226	+	synonymous_variant	Silent	SNP	G	A	A			CHC1714T																					ENST00000373582.3:c.204G>A	p.Gly68=	p.G68=	ENST00000373582	NM_032648.2	68	ggG/ggA	0	not done		synonymous	
HLA-DQB2		inserm.fr	GRCh37	6	32729631	32729631	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC451T																					ENST00000411527.1:c.170G>T	p.Arg57Ile	p.R57I	ENST00000411527	NM_001198858.1	57	aGa/aTa	0	validated			
NPR3		inserm.fr	GRCh37	5	32738979	32738979	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC304T									Valid												ENST00000265074.8:c.902C>A	p.Ser301Ter	p.S301*	ENST00000265074	NM_001204375.1	301	tCa/tAa	0	validated		damaging	
CELF5		inserm.fr	GRCh37	19	3275876	3275876	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000292672.2:c.417G>A	p.Gly139=	p.G139=	ENST00000292672	NM_021938.3	139	ggG/ggA	0	not done		synonymous	
FRY		inserm.fr	GRCh37	13	32768395	32768395	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1594T																					ENST00000380250.3:c.3707C>A	p.Ser1236Tyr	p.S1236Y	ENST00000380250	NM_023037.2	1236	tCt/tAt	0	not done		probablydamaging	
BIRC6		inserm.fr	GRCh37	2	32768589	32768589	+	synonymous_variant	Silent	SNP	G	A	A			CHC1744T																					ENST00000421745.2:c.12573G>A	p.Val4191=	p.V4191=	ENST00000421745	NM_016252.3	4191	gtG/gtA	0	not done		synonymous	
HLA-DOB		inserm.fr	GRCh37	6	32783011	32783011	+	synonymous_variant	Silent	SNP	G	A	A			CHC1534T																					ENST00000438763.2:c.171C>T	p.Ile57=	p.I57=	ENST00000438763	NM_002120.3	57	atC/atT	0	validated		synonymous	
HLA-DOB		inserm.fr	GRCh37	6	32784660	32784660	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1731T																					ENST00000438763.2:c.69G>T	p.Met23Ile	p.M23I	ENST00000438763	NM_002120.3	23	atG/atT	0	validated			
FRY		inserm.fr	GRCh37	13	32798517	32798517	+	synonymous_variant	Silent	SNP	C	A	A			CHC2115T																					ENST00000380250.3:c.4911C>A	p.Leu1637=	p.L1637=	ENST00000380250	NM_023037.2	1637	ctC/ctA	0	not done		synonymous	
BIRC6		inserm.fr	GRCh37	2	32836592	32836592	+	synonymous_variant	Silent	SNP	G	A	A			CHC2216T																					ENST00000421745.2:c.14337G>A	p.Gln4779=	p.Q4779=	ENST00000421745	NM_016252.3	4779	caG/caA	0	not done		synonymous	
TTC27		inserm.fr	GRCh37	2	32859033	32859033	+	synonymous_variant	Silent	SNP	G	A	A			BCM397T																					ENST00000317907.4:c.357G>A	p.Gln119=	p.Q119=	ENST00000317907	NM_017735.4	119	caG/caA	0	validated		synonymous	
TRIM71		inserm.fr	GRCh37	3	32859585	32859585	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000383763.5:c.13C>A	p.Pro5Thr	p.P5T	ENST00000383763	NM_001039111.1	5	Ccc/Acc	0	not done		benign	
TRIM71		inserm.fr	GRCh37	3	32859649	32859649	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000383763.5:c.77C>A	p.Ser26Tyr	p.S26Y	ENST00000383763	NM_001039111.1	26	tCc/tAc	0	not done		probablydamaging	
TRIM71		inserm.fr	GRCh37	3	32859881	32859881	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000383763.5:c.309G>A	p.Ala103=	p.A103=	ENST00000383763	NM_001039111.1	103	gcG/gcA	0	not done		synonymous	
C10orf68		inserm.fr	GRCh37	10	32873217	32873217	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000302316.6:c.28G>A	p.Ala10Thr	p.A10T	ENST00000302316	NM_024688.2	10	Gca/Aca	0	not done		possiblydamaging	
DNM1L		inserm.fr	GRCh37	12	32873685	32873685	+	synonymous_variant	Silent	SNP	G	A	A			CHC1616T																					ENST00000549701.1:c.828G>A	p.Leu276=	p.L276=	ENST00000549701		276	ctG/ctA	0	validated		synonymous	
ZAR1L		inserm.fr	GRCh37	13	32885738	32885738	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000533490.2:c.325C>T	p.Pro109Ser	p.P109S	ENST00000533490		109	Cct/Tct	0	not done		probablydamaging	
YARS2		inserm.fr	GRCh37	12	32902998	32902998	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM399T									Valid												ENST00000324868.8:c.1147G>T	p.Val383Phe	p.V383F	ENST00000324868	NM_001040436.2	383	Gtc/Ttc	0	validated		possiblydamaging	
HLA-DMB		inserm.fr	GRCh37	6	32903383	32903383	+	synonymous_variant	Silent	SNP	T	A	A			CHC1743T																					ENST00000418107.2:c.669A>T	p.Ala223=	p.A223=	ENST00000418107	NM_002118.4	223	gcA/gcT	0	not done		synonymous	
BRCA2		inserm.fr	GRCh37	13	32912618	32912618	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000380152.3:c.4126G>A	p.Gly1376Arg	p.G1376R	ENST00000380152		1376	Gga/Aga	0	not done		probablydamaging	
BRCA2		inserm.fr	GRCh37	13	32914859	32914859	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000380152.3:c.6367G>A	p.Glu2123Lys	p.E2123K	ENST00000380152		2123	Gaa/Aaa	0	not done		benign	
TRIM71		inserm.fr	GRCh37	3	32927534	32927534	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC465T																					ENST00000383763.5:c.1129G>A	p.Glu377Lys	p.E377K	ENST00000383763	NM_001039111.1	377	Gaa/Aaa	0	validated		benign	
TRIM71		inserm.fr	GRCh37	3	32932659	32932659	+	synonymous_variant	Silent	SNP	C	A	A			CHC432T																					ENST00000383763.5:c.1963C>A	p.Arg655=	p.R655=	ENST00000383763	NM_001039111.1	655	Cga/Aga	0	not done		synonymous	
TRIM71		inserm.fr	GRCh37	3	32933015	32933015	+	synonymous_variant	Silent	SNP	T	A	A			CHC1629T																					ENST00000383763.5:c.2319T>A	p.Val773=	p.V773=	ENST00000383763	NM_001039111.1	773	gtT/gtA	0	not done		synonymous	
TRIM71		inserm.fr	GRCh37	3	32933129	32933129	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000383763.5:c.2433G>A	p.Ala811=	p.A811=	ENST00000383763	NM_001039111.1	811	gcG/gcA	0	validated		synonymous	
DIP2C		inserm.fr	GRCh37	10	329339	329339	+	synonymous_variant	Silent	SNP	G	A	A			BCB301T																					ENST00000280886.6:c.4167C>T	p.Tyr1389=	p.Y1389=	ENST00000280886	NM_014974.2	1389	taC/taT	0	validated		synonymous	
BRD2		inserm.fr	GRCh37	6	32947739	32947739	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000395289.2:c.2081G>A	p.Gly694Glu	p.G694E	ENST00000395289		694	gGg/gAg	0	not done		probablydamaging	
BRCA2		inserm.fr	GRCh37	13	32972352	32972352	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM269T																					ENST00000380152.3:c.9702G>A	p.Met3234Ile	p.M3234I	ENST00000380152		3234	atG/atA	0	validated		probablydamaging	
N4BP2L2		inserm.fr	GRCh37	13	33018214	33018214	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC469T									Valid												ENST00000399396.3:c.460A>T	p.Lys154Ter	p.K154*	ENST00000399396	NM_033111.4	154	Aag/Tag	0	validated		damaging	
ITCH		inserm.fr	GRCh37	20	33026373	33026373	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262650.6:c.739G>A	p.Gly247Ser	p.G247S	ENST00000262650		247	Ggt/Agt	0	not done		benign	
FKBP9		inserm.fr	GRCh37	7	33028159	33028159	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC798T									Valid												ENST00000242209.4:c.934G>A	p.Gly312Ser	p.G312S	ENST00000242209	NM_007270.3	312	Ggc/Agc	0	validated		probablydamaging	
HLA-DPA1		inserm.fr	GRCh37	6	33037639	33037639	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1192T																					ENST00000419277.1:c.125C>T	p.Ala42Val	p.A42V	ENST00000419277	NM_001242524.1	42	gCg/gTg	0	not done		benign	
DEPDC7		inserm.fr	GRCh37	11	33047236	33047236	+	synonymous_variant	Silent	SNP	C	A	A			BCM695T																					ENST00000241051.3:c.105C>A	p.Ala35=	p.A35=	ENST00000241051	NM_001077242.1	35	gcC/gcA	0	validated		synonymous	
ITCH		inserm.fr	GRCh37	20	33050025	33050025	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1152T																					ENST00000262650.6:c.1546C>A	p.Leu516Ile	p.L516I	ENST00000262650		516	Cta/Ata	0	not done		possiblydamaging	
HLA-DPB1		inserm.fr	GRCh37	6	33052884	33052884	+	synonymous_variant	Silent	SNP	G	A	A			BCM423T																					ENST00000418931.2:c.522G>A	p.Leu174=	p.L174=	ENST00000418931	NM_002121.5	174	ctG/ctA	0	validated		synonymous	
SLC6A13		inserm.fr	GRCh37	12	330629	330629	+	synonymous_variant	Silent	SNP	C	A	A			CHC1731T																					ENST00000343164.4:c.1599G>T	p.Leu533=	p.L533=	ENST00000343164	NM_016615.4	533	ctG/ctT	0	not done		synonymous	
ITCH		inserm.fr	GRCh37	20	33065592	33065592	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T									Valid												ENST00000262650.6:c.1708C>A	p.Pro570Thr	p.P570T	ENST00000262650		570	Ccc/Acc	0	validated		probablydamaging	
SMU1		inserm.fr	GRCh37	9	33068872	33068872	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1594T																					ENST00000397149.3:c.451G>T	p.Gly151Cys	p.G151C	ENST00000397149	NM_018225.2	151	Ggc/Tgc	0	not done		probablydamaging	
SCAF4		inserm.fr	GRCh37	21	33077773	33077773	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM671T									Valid												ENST00000286835.7:c.122A>T	p.Lys41Met	p.K41M	ENST00000286835	NM_020706.2	41	aAg/aTg	0	validated		probablydamaging	
TCP11L1		inserm.fr	GRCh37	11	33087445	33087445	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000334274.4:c.1042G>A	p.Ala348Thr	p.A348T	ENST00000334274	NM_018393.3	348	Gct/Act	0	not done		benign	
GLB1		inserm.fr	GRCh37	3	33087721	33087721	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC303T																					ENST00000307363.5:c.959C>T	p.Ala320Val	p.A320V	ENST00000307363	NM_000404.2	320	gCc/gTc	0	validated		probablydamaging	
GLB1		inserm.fr	GRCh37	3	33114067	33114067	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC909T																					ENST00000307363.5:c.214A>T	p.Met72Leu	p.M72L	ENST00000307363	NM_000404.2	72	Atg/Ttg	0	not done		possiblydamaging	
COL11A2		inserm.fr	GRCh37	6	33153553	33153553	+	intron_variant	Intron	SNP	G	A	A			CHC796T																					ENST00000374708.4:c.799-722C>T		*267*	ENST00000374708	NM_080681.2			0	validated		synonymous	
COL11A2		inserm.fr	GRCh37	6	33156861	33156861	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC121T									Valid												ENST00000374708.4:c.337G>T	p.Gly113Cys	p.G113C	ENST00000374708	NM_080681.2	113	Ggc/Tgc	0	validated		probablydamaging	
RGS9BP		inserm.fr	GRCh37	19	33167822	33167822	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000334176.3:c.653G>A	p.Gly218Asp	p.G218D	ENST00000334176	NM_207391.2	218	gGc/gAc	0	not done		benign	
RING1		inserm.fr	GRCh37	6	33179767	33179767	+	synonymous_variant	Silent	SNP	C	A	A			CHC051T																					ENST00000374656.4:c.1107C>A	p.Gly369=	p.G369=	ENST00000374656	NM_002931.3	369	ggC/ggA	0	validated		synonymous	
FMN1		inserm.fr	GRCh37	15	33180447	33180447	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2103T																					ENST00000334528.9:c.3092A>T	p.Asp1031Val	p.D1031V	ENST00000334528	NM_001103184.3	1031	gAt/gTt	0	not done		probablydamaging	
FMN1		inserm.fr	GRCh37	15	33180460	33180460	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000334528.9:c.3079C>T	p.Pro1027Ser	p.P1027S	ENST00000334528	NM_001103184.3	1027	Ccg/Tcg	0	not done		probablydamaging	
SUSD5		inserm.fr	GRCh37	3	33194973	33194973	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1566T																					ENST00000309558.3:c.1151C>T	p.Thr384Ile	p.T384I	ENST00000309558	NM_015551.1	384	aCa/aTa	0	not done		benign	
ITGB1		inserm.fr	GRCh37	10	33208996	33208996	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1736T																					ENST00000396033.2:c.1286G>T	p.Ser429Ile	p.S429I	ENST00000396033	NM_133376.2	429	aGc/aTc	0	not done		benign	
SUSD5		inserm.fr	GRCh37	3	33216510	33216510	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000309558.3:c.466G>T	p.Gly156Cys	p.G156C	ENST00000309558	NM_015551.1	156	Ggc/Tgc	0	not done		probablydamaging	
VPS52		inserm.fr	GRCh37	6	33219393	33219393	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1055T									Valid												ENST00000445902.2:c.1927C>T	p.Arg643Cys	p.R643C	ENST00000445902	NM_022553.4	643	Cgt/Tgt	0	validated		probablydamaging	
OR3A3		inserm.fr	GRCh37	17	3324596	3324596	+	synonymous_variant	Silent	SNP	G	A	A			CHC1566T																					ENST00000291231.1:c.735G>A	p.Lys245=	p.K245=	ENST00000291231	NM_012373.2	245	aaG/aaA	0	not done		synonymous	
FMN1		inserm.fr	GRCh37	15	33260988	33260988	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1028T																					ENST00000334528.9:c.2245C>T	p.Arg749Ter	p.R749*	ENST00000334528	NM_001103184.3	749	Cga/Tga	0	not done		damaging	
PRDM16		inserm.fr	GRCh37	1	3328153	3328153	+	synonymous_variant	Silent	SNP	C	A	A			CHC1531T																					ENST00000270722.5:c.1392C>A	p.Thr464=	p.T464=	ENST00000270722		464	acC/acA	0	not done		synonymous	
ZBTB22		inserm.fr	GRCh37	6	33283241	33283241	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1708T																					ENST00000431845.2:c.1453A>T	p.Ile485Phe	p.I485F	ENST00000431845	NM_005453.4	485	Atc/Ttc	0	not done		possiblydamaging	
DAXX		inserm.fr	GRCh37	6	33288680	33288680	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1603T																					ENST00000374542.5:c.872G>T	p.Arg291Leu	p.R291L	ENST00000374542	NM_001141970.1	291	cGg/cTg	0	not done		possiblydamaging	
S100PBP		inserm.fr	GRCh37	1	33291963	33291963	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373475.5:c.263G>A	p.Ser88Asn	p.S88N	ENST00000373475	NM_022753.3	88	aGt/aAt	0	not done		benign	
C20orf194		inserm.fr	GRCh37	20	3329232	3329232	+	synonymous_variant	Silent	SNP	G	A	A			CHC1081T																					ENST00000252032.9:c.729C>T	p.Phe243=	p.F243=	ENST00000252032	NM_001009984.2	243	ttC/ttT	0	validated		synonymous	
LIG3		inserm.fr	GRCh37	17	33318745	33318745	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM783T									Valid												ENST00000378526.4:c.1097C>A	p.Pro366Gln	p.P366Q	ENST00000378526	NM_013975.3	366	cCa/cAa	0	validated		probablydamaging	
PDS5B		inserm.fr	GRCh37	13	33338675	33338675	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC327T																					ENST00000315596.10:c.3567G>A	p.Met1189Ile	p.M1189I	ENST00000315596	NM_015032.3	1189	atG/atA	0	validated		benign	
TTI2		inserm.fr	GRCh37	8	33361306	33361306	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000431156.2:c.1075C>T	p.Arg359Cys	p.R359C	ENST00000431156	NM_001102401.2	359	Cgc/Tgc	0	validated		probablydamaging	
HIPK3		inserm.fr	GRCh37	11	33369496	33369496	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000303296.4:c.2243G>A	p.Gly748Glu	p.G748E	ENST00000303296	NM_005734.4	748	gGg/gAg	0	not done		probablydamaging	
KIFC1		inserm.fr	GRCh37	6	33374387	33374387	+	synonymous_variant	Silent	SNP	C	A	A			BCM371T																					ENST00000428849.2:c.1846C>A	p.Arg616=	p.R616=	ENST00000428849	NM_002263.3	616	Cgg/Agg	0	validated		synonymous	
SYN3		inserm.fr	GRCh37	22	33402430	33402430	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000358763.2:c.218C>T	p.Ala73Val	p.A73V	ENST00000358763	NM_001135774.1	73	gCc/gTc	0	not done		benign	
SYNGAP1		inserm.fr	GRCh37	6	33409467	33409467	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM439T																					ENST00000418600.2:c.2225G>A	p.Arg742Gln	p.R742Q	ENST00000418600	NM_006772.2	742	cGg/cAg	0	validated		probablydamaging	
PRDM16		inserm.fr	GRCh37	1	3342217	3342217	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000270722.5:c.3012G>A	p.Lys1004=	p.K1004=	ENST00000270722		1004	aaG/aaA	0	not done		synonymous	
ZBTB9		inserm.fr	GRCh37	6	33423427	33423427	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T																					ENST00000395064.2:c.550G>A	p.Ala184Thr	p.A184T	ENST00000395064	NM_152735.3	184	Gct/Act	0	validated		benign	
LTBP1		inserm.fr	GRCh37	2	33442714	33442714	+	synonymous_variant	Silent	SNP	G	A	A			CHC609T																					ENST00000404816.2:c.1797G>A	p.Lys599=	p.K599=	ENST00000404816		599	aaG/aaA	0	validated		synonymous	
FMN1		inserm.fr	GRCh37	15	33445718	33445718	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000320930.7:c.1398C>T	p.Gly466=	p.G466=	ENST00000320930	NM_001277314.1	466	ggC/ggT	0	not done		synonymous	
FMN1		inserm.fr	GRCh37	15	33445819	33445819	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB151T																					ENST00000320930.7:c.1297G>T	p.Ala433Ser	p.A433S	ENST00000320930	NM_001277314.1	433	Gcc/Tcc	0	validated			
FMN1		inserm.fr	GRCh37	15	33446813	33446813	+	synonymous_variant	Silent	SNP	G	A	A			CHC1183T																					ENST00000320930.7:c.303C>T	p.Leu101=	p.L101=	ENST00000320930	NM_001277314.1	101	ctC/ctT	0	not done		synonymous	
TARS		inserm.fr	GRCh37	5	33448788	33448788	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1742T																					ENST00000455217.2:c.280G>A	p.Asp94Asn	p.D94N	ENST00000455217	NM_001258438.1	94	Gat/Aat	0	not done		benign	
ACSS2		inserm.fr	GRCh37	20	33464500	33464500	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000253382.5:c.52G>A	p.Glu18Lys	p.E18K	ENST00000253382	NM_001076552.2	18	Gag/Aag	0	not done		possiblydamaging	
NRP1		inserm.fr	GRCh37	10	33475414	33475414	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			BCM375T									Valid												ENST00000265371.4:c.2065G>T	p.Asp689Tyr	p.D689Y	ENST00000265371		689	Gat/Tat	0	validated		probablydamaging	
PRDM16		inserm.fr	GRCh37	1	3347628	3347628	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000270722.5:c.3477G>A	p.Glu1159=	p.E1159=	ENST00000270722		1159	gaG/gaA	0	not done		synonymous	
UNC45B		inserm.fr	GRCh37	17	33477224	33477224	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM759T																					ENST00000268876.5:c.363C>A	p.Asn121Lys	p.N121K	ENST00000268876	NM_173167.2	121	aaC/aaA	0	validated		benign	
UNC45B		inserm.fr	GRCh37	17	33496903	33496903	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000268876.5:c.1500G>A	p.Arg500=	p.R500=	ENST00000268876	NM_173167.2	500	agG/agA	0	not done		synonymous	
UNC45B		inserm.fr	GRCh37	17	33507656	33507656	+	synonymous_variant	Silent	SNP	G	A	A			CHC1186T																					ENST00000268876.5:c.2340G>A	p.Ala780=	p.A780=	ENST00000268876	NM_173167.2	780	gcG/gcA	0	not done		synonymous	
GSS		inserm.fr	GRCh37	20	33516744	33516744	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM703T																					ENST00000216951.2:c.1312A>T	p.Thr438Ser	p.T438S	ENST00000216951	NM_000178.2	438	Aca/Tca	0	validated		benign	
LTBP1		inserm.fr	GRCh37	2	33518226	33518226	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC2141T																					ENST00000404816.2:c.3113-1G>A		p.X1038_splice	ENST00000404816				0	not done		damaging	
ADAMTS12		inserm.fr	GRCh37	5	33527377	33527377	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000504830.1:c.4701C>T	p.Cys1567=	p.C1567=	ENST00000504830	NM_030955.2	1567	tgC/tgT	0	not done		synonymous	
BAK1		inserm.fr	GRCh37	6	33541864	33541864	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB167T																					ENST00000374467.3:c.478G>T	p.Asp160Tyr	p.D160Y	ENST00000374467	NM_001188.3	160	Gac/Tac	0	validated		probablydamaging	
ADC		inserm.fr	GRCh37	1	33547938	33547938	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2358T																					ENST00000294517.6:c.88G>A	p.Ala30Thr	p.A30T	ENST00000294517	NM_052998.2	30	Gcc/Acc	0	validated		possiblydamaging	
SYT10		inserm.fr	GRCh37	12	33560265	33560265	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1534T																					ENST00000228567.3:c.536C>T	p.Pro179Leu	p.P179L	ENST00000228567	NM_198992.3	179	cCg/cTg	0	validated		probablydamaging	
KIAA1549L		inserm.fr	GRCh37	11	33564922	33564922	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000321505.4:c.922G>A	p.Gly308Ser	p.G308S	ENST00000321505		308	Ggt/Agt	0	not done		benign	
KIAA1549L		inserm.fr	GRCh37	11	33569411	33569411	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2112T																					ENST00000321505.4:c.2596G>A	p.Asp866Asn	p.D866N	ENST00000321505		866	Gat/Aat	0	not done		probablydamaging	
SLFN5		inserm.fr	GRCh37	17	33586053	33586053	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC121T									Valid												ENST00000299977.4:c.344C>A	p.Ser115Tyr	p.S115Y	ENST00000299977	NM_144975.3	115	tCc/tAc	0	validated		probablydamaging	
SLFN5		inserm.fr	GRCh37	17	33586622	33586622	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000299977.4:c.913G>A	p.Val305Met	p.V305M	ENST00000299977	NM_144975.3	305	Gtg/Atg	0	not done		probablydamaging	
SLFN5		inserm.fr	GRCh37	17	33591520	33591520	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000299977.4:c.1457G>A	p.Gly486Glu	p.G486E	ENST00000299977	NM_144975.3	486	gGg/gAg	0	not done		benign	
LTBP1		inserm.fr	GRCh37	2	33622278	33622278	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000404816.2:c.4913G>A	p.Arg1638Lys	p.R1638K	ENST00000404816		1638	aGg/aAg	0	not done		probablydamaging	
CLASP2		inserm.fr	GRCh37	3	33623316	33623316	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC884T																					ENST00000468888.2:c.2347C>T	p.Leu783Phe	p.L783F	ENST00000468888		783	Ctc/Ttc	0	validated		probablydamaging	
KL		inserm.fr	GRCh37	13	33628103	33628103	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000380099.3:c.1019G>A	p.Ser340Asn	p.S340N	ENST00000380099	NM_004795.3	340	aGc/aAc	0	not done		possiblydamaging	
KIAA1549L		inserm.fr	GRCh37	11	33628192	33628192	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000321505.4:c.3994G>A	p.Ala1332Thr	p.A1332T	ENST00000321505		1332	Gcg/Acg	0	not done		possiblydamaging	
KL		inserm.fr	GRCh37	13	33629305	33629305	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000380099.3:c.1452G>A	p.Gln484=	p.Q484=	ENST00000380099	NM_004795.3	484	caG/caA	0	not done		synonymous	
ADAMTS12		inserm.fr	GRCh37	5	33643573	33643573	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000504830.1:c.1482C>T	p.Asn494=	p.N494=	ENST00000504830	NM_030955.2	494	aaC/aaT	0	not done		synonymous	
ITPR3		inserm.fr	GRCh37	6	33645328	33645328	+	synonymous_variant	Silent	SNP	G	A	A			CHC884T																					ENST00000374316.5:c.3570G>A	p.Arg1190=	p.R1190=	ENST00000374316		1190	agG/agA	0	validated		synonymous	
ITPR3		inserm.fr	GRCh37	6	33651069	33651069	+	synonymous_variant	Silent	SNP	C	A	A			CHC121T																					ENST00000374316.5:c.4683C>A	p.Ala1561=	p.A1561=	ENST00000374316		1561	gcC/gcA	0	validated		synonymous	
ADAMTS12		inserm.fr	GRCh37	5	33684073	33684073	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC155T									Valid												ENST00000504830.1:c.722C>T	p.Ser241Phe	p.S241F	ENST00000504830	NM_030955.2	241	tCc/tTc	0	validated		probablydamaging	
SLC7A10		inserm.fr	GRCh37	19	33703226	33703226	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1089T																					ENST00000253188.4:c.760G>T	p.Val254Phe	p.V254F	ENST00000253188	NM_019849.2	254	Gtc/Ttc	0	validated		probablydamaging	
SLC39A6		inserm.fr	GRCh37	18	33706625	33706625	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000269187.5:c.346C>T	p.His116Tyr	p.H116Y	ENST00000269187	NM_012319.3	116	Cat/Tat	0	not done		possiblydamaging	
ELP2		inserm.fr	GRCh37	18	33718248	33718248	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC218T																					ENST00000442325.2:c.304C>A	p.His102Asn	p.H102N	ENST00000442325	NM_001242875.1	102	Cat/Aat	0	validated		probablydamaging	
URB1		inserm.fr	GRCh37	21	33719569	33719569	+	synonymous_variant	Silent	SNP	C	A	A			CHC1154T																					ENST00000382751.3:c.3564G>T	p.Leu1188=	p.L1188=	ENST00000382751	NM_014825.2	1188	ctG/ctT	0	not done		synonymous	
URB1		inserm.fr	GRCh37	21	33732147	33732147	+	synonymous_variant	Silent	SNP	G	A	A			CHC2034T																					ENST00000382751.3:c.1827C>T	p.Ala609=	p.A609=	ENST00000382751	NM_014825.2	609	gcC/gcT	0	not done		synonymous	
EDEM2		inserm.fr	GRCh37	20	33734966	33734966	+	synonymous_variant	Silent	SNP	G	A	A			CHC1052T																					ENST00000374492.3:c.96C>T	p.Pro32=	p.P32=	ENST00000374492	NM_018217.2	32	ccC/ccT	0	validated		synonymous	
ELP2		inserm.fr	GRCh37	18	33736497	33736497	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1209T																					ENST00000442325.2:c.1539T>A	p.Asn513Lys	p.N513K	ENST00000442325	NM_001242875.1	513	aaT/aaA	0	not done		benign	
RASGRP3		inserm.fr	GRCh37	2	33745677	33745677	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB231T																					ENST00000403687.3:c.294G>A	p.Met98Ile	p.M98I	ENST00000403687	NM_001139488.1	98	atG/atA	0	validated		benign	
RP11-89N17.1		inserm.fr	GRCh37	7	33767810	33767810	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000311067.3:c.569G>A	p.Gly190Glu	p.G190E	ENST00000311067		190	gGg/gAg	0	not done			
PHC2		inserm.fr	GRCh37	1	33797966	33797966	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC879T																					ENST00000257118.5:c.1798A>T	p.Lys600Ter	p.K600*	ENST00000257118	NM_198040.2	600	Aag/Tag	0	not done		damaging	
UBE2R2		inserm.fr	GRCh37	9	33817798	33817798	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM257T																					ENST00000263228.3:c.43C>A	p.Leu15Ile	p.L15I	ENST00000263228	NM_017811.3	15	Ctc/Atc	0	validated		benign	
ARHGEF16		inserm.fr	GRCh37	1	3382716	3382716	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000378378.4:c.593C>A	p.Thr198Lys	p.T198K	ENST00000378378	NM_014448.3	198	aCg/aAg	0	not done		possiblydamaging	
MMP24		inserm.fr	GRCh37	20	33834766	33834766	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM703T																					ENST00000246186.6:c.370G>A	p.Gly124Ser	p.G124S	ENST00000246186	NM_006690.3	124	Ggt/Agt	0	validated		probablydamaging	
RYR3		inserm.fr	GRCh37	15	33858898	33858898	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000389232.4:c.1166G>A	p.Gly389Asp	p.G389D	ENST00000389232	NM_001036.3	389	gGc/gAc	0	not done		possiblydamaging	
MMP24		inserm.fr	GRCh37	20	33862240	33862240	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1602T																					ENST00000246186.6:c.1766T>A	p.Ile589Asn	p.I589N	ENST00000246186	NM_006690.3	589	aTc/aAc	0	not done		probablydamaging	
RYR3		inserm.fr	GRCh37	15	33873763	33873763	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1603T																					ENST00000389232.4:c.1492G>A	p.Val498Ile	p.V498I	ENST00000389232	NM_001036.3	498	Gta/Ata	0	not done		benign	
FAM83C		inserm.fr	GRCh37	20	33874721	33874721	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1742T																					ENST00000374408.3:c.1861C>T	p.Arg621Trp	p.R621W	ENST00000374408	NM_178468.5	621	Cgg/Tgg	0	not done		benign	
FAM83C		inserm.fr	GRCh37	20	33875156	33875156	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC736T																					ENST00000374408.3:c.1426C>T	p.Pro476Ser	p.P476S	ENST00000374408	NM_178468.5	476	Ccc/Tcc	0	validated		benign	
TSPAN9		inserm.fr	GRCh37	12	3390467	3390467	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000011898.5:c.536G>A	p.Arg179His	p.R179H	ENST00000011898	NM_006675.4	179	cGc/cAc	0	validated		benign	
TRAPPC12		inserm.fr	GRCh37	2	3392380	3392380	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000324266.5:c.986G>A	p.Gly329Asp	p.G329D	ENST00000324266	NM_016030.5	329	gGc/gAc	0	not done		possiblydamaging	
RXFP3		inserm.fr	GRCh37	5	33936983	33936983	+	synonymous_variant	Silent	SNP	G	A	A			BCM783T																					ENST00000330120.3:c.138G>A	p.Pro46=	p.P46=	ENST00000330120	NM_016568.3	46	ccG/ccA	0	validated		synonymous	
ZSCAN20		inserm.fr	GRCh37	1	33945250	33945250	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000361328.3:c.361G>A	p.Glu121Lys	p.E121K	ENST00000361328	NM_145238.3	121	Gag/Aag	0	not done		probablydamaging	
RYR3		inserm.fr	GRCh37	15	33954413	33954413	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T									Valid												ENST00000389232.4:c.4682C>A	p.Thr1561Lys	p.T1561K	ENST00000389232	NM_001036.3	1561	aCg/aAg	0	validated		probablydamaging	
AP2B1		inserm.fr	GRCh37	17	33954518	33954518	+	synonymous_variant	Silent	SNP	T	A	A			CHC889T																					ENST00000312678.8:c.1053T>A	p.Ile351=	p.I351=	ENST00000312678	NM_001030006.1	351	atT/atA	0	not done		synonymous	
ZSCAN20		inserm.fr	GRCh37	1	33958786	33958786	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000361328.3:c.1445-1G>A		p.X482_splice	ENST00000361328	NM_145238.3			0	not done		damaging	
C21orf59		inserm.fr	GRCh37	21	33974177	33974177	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1186T																					ENST00000290155.3:c.869G>T	p.Arg290Ile	p.R290I	ENST00000290155	NM_021254.2	290	aGa/aTa	0	not done		probablydamaging	
CSMD2		inserm.fr	GRCh37	1	33998798	33998798	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	A	A			CHC1154T																					ENST00000241312.4:c.9591G>T	p.Thr3197=	p.T3197=	ENST00000241312		3197	acG/acT	0	not done		synonymous	
GRM4		inserm.fr	GRCh37	6	34008341	34008341	+	synonymous_variant	Silent	SNP	T	A	A			CHC1205T																					ENST00000538487.2:c.1353A>T	p.Arg451=	p.R451=	ENST00000538487	NM_000841.2	451	cgA/cgT	0	not done		synonymous	
GRM4		inserm.fr	GRCh37	6	34008361	34008361	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM275T									Valid												ENST00000538487.2:c.1333C>T	p.Gln445Ter	p.Q445*	ENST00000538487	NM_000841.2	445	Cag/Tag	0	validated		damaging	
RYR3		inserm.fr	GRCh37	15	34042180	34042180	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000389232.4:c.8200G>A	p.Gly2734Arg	p.G2734R	ENST00000389232	NM_001036.3	2734	Gga/Aga	0	not done		possiblydamaging	
RYR3		inserm.fr	GRCh37	15	34048546	34048546	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000389232.4:c.8555G>A	p.Arg2852His	p.R2852H	ENST00000389232	NM_001036.3	2852	cGt/cAt	0	not done		benign	
CEP250		inserm.fr	GRCh37	20	34051438	34051438	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000397527.1:c.225G>A	p.Lys75=	p.K75=	ENST00000397527	NM_007186.3	75	aaG/aaA	0	not done		synonymous	
CEP250		inserm.fr	GRCh37	20	34061277	34061277	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000397527.1:c.1288G>A	p.Gly430Ser	p.G430S	ENST00000397527	NM_007186.3	430	Ggc/Agc	0	not done		possiblydamaging	
MEGF6		inserm.fr	GRCh37	1	3407116	3407116	+	synonymous_variant	Silent	SNP	C	A	A			CHC434T																					ENST00000356575.4:c.4602G>T	p.Arg1534=	p.R1534=	ENST00000356575	NM_001409.3	1534	cgG/cgT	0	validated		synonymous	
GAS2L2		inserm.fr	GRCh37	17	34072673	34072673	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000254466.6:c.1843C>T	p.Leu615=	p.L615=	ENST00000254466	NM_139285.3	615	Cta/Tta	0	not done		synonymous	
RYR3		inserm.fr	GRCh37	15	34080565	34080565	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000389232.4:c.9736G>A	p.Glu3246Lys	p.E3246K	ENST00000389232	NM_001036.3	3246	Gag/Aag	0	not done		probablydamaging	
CEP250		inserm.fr	GRCh37	20	34091284	34091284	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000397527.1:c.5087G>A	p.Gly1696Asp	p.G1696D	ENST00000397527	NM_007186.3	1696	gGc/gAc	0	not done		benign	
CEP250		inserm.fr	GRCh37	20	34091372	34091372	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000397527.1:c.5175G>A	p.Glu1725=	p.E1725=	ENST00000397527	NM_007186.3	1725	gaG/gaA	0	not done		synonymous	
C17orf50		inserm.fr	GRCh37	17	34091619	34091619	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000285023.4:c.507G>A	p.Gly169=	p.G169=	ENST00000285023	NM_145272.3	169	ggG/ggA	0	not done		synonymous	
CEP250		inserm.fr	GRCh37	20	34092035	34092035	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000397527.1:c.5838G>A	p.Arg1946=	p.R1946=	ENST00000397527	NM_007186.3	1946	cgG/cgA	0	not done		synonymous	
MMP28		inserm.fr	GRCh37	17	34093823	34093823	+	downstream_gene_variant	3'Flank	SNP	G	A	A			BCM723T																								ENST00000285023	NM_145272.3			0	validated		probablydamaging	
C20orf173		inserm.fr	GRCh37	20	34117141	34117141	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1183T																					ENST00000444723.1:c.62C>T	p.Thr21Ile	p.T21I	ENST00000444723	NM_001145350.1	21	aCc/aTc	0	not done		benign	
NPAS3		inserm.fr	GRCh37	14	34145536	34145536	+	synonymous_variant	Silent	SNP	T	A	A			CHC703T																					ENST00000356141.4:c.678T>A	p.Ala226=	p.A226=	ENST00000356141		226	gcT/gcA	0	not done		synonymous	
FAM47A		inserm.fr	GRCh37	X	34149749	34149749	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000346193.3:c.647C>T	p.Pro216Leu	p.P216L	ENST00000346193	NM_203408.3	216	cCc/cTc	0	not done		probablydamaging	
RYR3		inserm.fr	GRCh37	15	34153343	34153343	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM695T																					ENST00000389232.4:c.14429C>A	p.Thr4810Lys	p.T4810K	ENST00000389232	NM_001036.3	4810	aCa/aAa	0	validated		probablydamaging	
CHST8		inserm.fr	GRCh37	19	34180234	34180234	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262622.4:c.67G>A	p.Ala23Thr	p.A23T	ENST00000262622	NM_022467.3	23	Gca/Aca	0	not done		possiblydamaging	
C17orf66		inserm.fr	GRCh37	17	34182167	34182167	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000311880.2:c.1613C>T	p.Pro538Leu	p.P538L	ENST00000311880	NM_152781.2	538	cCg/cTg	0	validated		probablydamaging	
CSMD2		inserm.fr	GRCh37	1	34191077	34191077	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	A	A			CHC1211T																					ENST00000241312.4:c.2448G>T	p.Ala816=	p.A816=	ENST00000241312		816	gcG/gcT	0	not done		synonymous	
ABTB2		inserm.fr	GRCh37	11	34192452	34192452	+	splice_donor_variant	Splice_Site	SNP	C	A	A			BCM529T																					ENST00000435224.2:c.1563+1G>T		p.X521_splice	ENST00000435224	NM_145804.2			0	validated		damaging	
BMPER		inserm.fr	GRCh37	7	34192785	34192785	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1154T																					ENST00000297161.2:c.1958G>A	p.Gly653Asp	p.G653D	ENST00000297161	NM_133468.4	653	gGt/gAt	0	not done		probablydamaging	
CPNE1		inserm.fr	GRCh37	20	34218685	34218685	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1154T																					ENST00000317677.5:c.1043C>T	p.Ala348Val	p.A348V	ENST00000317677	NM_003915.5	348	gCc/gTc	0	not done		probablydamaging	
RBM12		inserm.fr	GRCh37	20	34242823	34242823	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC301T																					ENST00000374114.3:c.422A>T	p.His141Leu	p.H141L	ENST00000374114	NM_001198838.1	141	cAt/cTt	0	validated		benign	
RDM1		inserm.fr	GRCh37	17	34252546	34252546	+	synonymous_variant	Silent	SNP	G	A	A			BCB301T																					ENST00000293273.6:c.372C>T	p.Phe124=	p.F124=	ENST00000293273	NM_145654.3	124	ttC/ttT	0	validated		synonymous	
CSMD2		inserm.fr	GRCh37	1	34254225	34254225	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000241312.4:c.1519C>T	p.Leu507=	p.L507=	ENST00000241312		507	Ctg/Ttg	0	not done		synonymous	
CTD-2144E22.5		inserm.fr	GRCh37	16	34256762	34256762	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000319817.2:c.6G>A	p.Gly2=	p.G2=	ENST00000319817		2	ggG/ggA	0	not done		synonymous	
CHST8		inserm.fr	GRCh37	19	34263023	34263023	+	synonymous_variant	Silent	SNP	C	A	A			BCM265T																					ENST00000262622.4:c.330C>A	p.Arg110=	p.R110=	ENST00000262622	NM_022467.3	110	cgC/cgA	0	validated		synonymous	
CHST8		inserm.fr	GRCh37	19	34263609	34263609	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM257T																					ENST00000262622.4:c.916G>A	p.Val306Met	p.V306M	ENST00000262622	NM_022467.3	306	Gtg/Atg	0	validated		probablydamaging	
CHST8		inserm.fr	GRCh37	19	34263821	34263821	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000262622.4:c.1128G>A	p.Arg376=	p.R376=	ENST00000262622	NM_022467.3	376	cgG/cgA	0	not done		synonymous	
NPAS3		inserm.fr	GRCh37	14	34269165	34269165	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000356141.4:c.1652G>A	p.Gly551Asp	p.G551D	ENST00000356141		551	gGc/gAc	0	not done		probablydamaging	
TRAPPC12		inserm.fr	GRCh37	2	3428301	3428301	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1055T									Valid												ENST00000324266.5:c.1284G>A	p.Trp428Ter	p.W428*	ENST00000324266	NM_016030.5	428	tgG/tgA	0	validated		damaging	
FHOD3		inserm.fr	GRCh37	18	34322774	34322774	+	synonymous_variant	Silent	SNP	C	A	A			CHC1209T																					ENST00000257209.4:c.3309C>A	p.Ile1103=	p.I1103=	ENST00000257209	NM_025135.2	1103	atC/atA	0	not done		synonymous	
ZSCAN32		inserm.fr	GRCh37	16	3433115	3433115	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC301T									Valid												ENST00000304926.3:c.1195G>T	p.Gly399Ter	p.G399*	ENST00000304926	NM_017810.2	399	Gga/Tga	0	validated		damaging	
FHOD3		inserm.fr	GRCh37	18	34335114	34335114	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1192T																					ENST00000257209.4:c.3740C>A	p.Pro1247Gln	p.P1247Q	ENST00000257209	NM_025135.2	1247	cCa/cAa	0	not done		probablydamaging	
CHRM5		inserm.fr	GRCh37	15	34355440	34355440	+	synonymous_variant	Silent	SNP	G	A	A			CHC2029T																					ENST00000383263.5:c.522G>A	p.Gly174=	p.G174=	ENST00000383263	NM_012125.3	174	ggG/ggA	0	not done		synonymous	
AXIN1		inserm.fr	GRCh37	16	343624	343624	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1629T									Valid												ENST00000262320.3:c.2050C>T	p.Gln684Ter	p.Q684*	ENST00000262320	NM_003502.3	684	Cag/Tag	0	not done		damaging	
CSMD2		inserm.fr	GRCh37	1	34383881	34383881	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000241312.4:c.614C>T	p.Thr205Ile	p.T205I	ENST00000241312		205	aCc/aTc	0	not done		possiblydamaging	
CCL18		inserm.fr	GRCh37	17	34397916	34397916	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	A	A			CHC1720T																					ENST00000004921.3:c.177C>A	p.Val59=	p.V59=	ENST00000004921	NM_002988.2	59	gtC/gtA	0	not done		synonymous	
EGLN3		inserm.fr	GRCh37	14	34398321	34398321	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2034T																					ENST00000250457.3:c.575G>T	p.Arg192Leu	p.R192L	ENST00000250457	NM_022073.3	192	cGt/cTt	0	not done		possiblydamaging	
OLIG2		inserm.fr	GRCh37	21	34399356	34399356	+	synonymous_variant	Silent	SNP	G	A	A			CHC1744T																					ENST00000333337.3:c.186G>A	p.Ala62=	p.A62=	ENST00000333337		62	gcG/gcA	0	not done		synonymous	
CCL3		inserm.fr	GRCh37	17	34416618	34416618	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000225245.5:c.99C>T	p.Cys33=	p.C33=	ENST00000225245	NM_002983.2	33	tgC/tgT	0	not done		synonymous	
EGLN3		inserm.fr	GRCh37	14	34419650	34419650	+	synonymous_variant	Silent	SNP	G	A	A			CHC794T																					ENST00000250457.3:c.309C>T	p.Leu103=	p.L103=	ENST00000250457	NM_022073.3	103	ctC/ctT	0	validated		synonymous	
CCL4		inserm.fr	GRCh37	17	34431977	34431977	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1137T																					ENST00000250151.4:c.133C>A	p.Arg45Ser	p.R45S	ENST00000250151	NM_002984.2	45	Cgc/Agc	0	not done		probablydamaging	
PHF20		inserm.fr	GRCh37	20	34435315	34435315	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1746T																					ENST00000374012.3:c.299G>A	p.Cys100Tyr	p.C100Y	ENST00000374012		100	tGt/tAt	0	not done		probablydamaging	
OLIG1		inserm.fr	GRCh37	21	34442836	34442836	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000382348.1:c.284G>A	p.Arg95Gln	p.R95Q	ENST00000382348	NM_138983.2	95	cGg/cAg	0	not done		benign	
HGFAC		inserm.fr	GRCh37	4	3445090	3445090	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC801T																					ENST00000382774.3:c.418G>A	p.Asp140Asn	p.D140N	ENST00000382774	NM_001528.2	140	Gac/Aac	0	validated		probablydamaging	
HGFAC		inserm.fr	GRCh37	4	3446570	3446570	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000382774.3:c.866G>A	p.Gly289Glu	p.G289E	ENST00000382774	NM_001528.2	289	gGg/gAg	0	not done		benign	
HGFAC		inserm.fr	GRCh37	4	3447078	3447078	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000382774.3:c.1102+1G>A		p.X368_splice	ENST00000382774	NM_001528.2			0	not done		damaging	
CAT		inserm.fr	GRCh37	11	34482841	34482841	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000241052.4:c.1100G>A	p.Gly367Glu	p.G367E	ENST00000241052	NM_001752.3	367	gGa/gAa	0	not done		probablydamaging	
PACSIN1		inserm.fr	GRCh37	6	34496468	34496468	+	synonymous_variant	Silent	SNP	G	A	A			CHC1626T																					ENST00000538621.1:c.270G>A	p.Glu90=	p.E90=	ENST00000538621	NM_001199583.2	90	gaG/gaA	0	not done		synonymous	
SCAND1		inserm.fr	GRCh37	20	34542192	34542192	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1192T																					ENST00000373991.3:c.15G>T	p.Glu5Asp	p.E5D	ENST00000373991		5	gaG/gaT	0	not done		possiblydamaging	
SLC12A6		inserm.fr	GRCh37	15	34547574	34547574	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000354181.3:c.765G>T	p.Met255Ile	p.M255I	ENST00000354181		255	atG/atT	0	not done		probablydamaging	
TRPV3		inserm.fr	GRCh37	17	3458038	3458038	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000301365.4:c.107C>T	p.Pro36Leu	p.P36L	ENST00000301365		36	cCc/cTc	0	not done		probablydamaging	
IFNAR2		inserm.fr	GRCh37	21	34625048	34625048	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1185T																					ENST00000342136.4:c.622G>A	p.Val208Ile	p.V208I	ENST00000342136		208	Gta/Ata	0	not done		benign	
NUTM1		inserm.fr	GRCh37	15	34640755	34640755	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000333756.4:c.602G>A	p.Gly201Asp	p.G201D	ENST00000333756	NM_175741.1	201	gGt/gAt	0	not done		possiblydamaging	
GALT		inserm.fr	GRCh37	9	34646773	34646773	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1061T									Valid												ENST00000378842.3:c.72C>A	p.Phe24Leu	p.F24L	ENST00000378842	NM_000155.3	24	ttC/ttA	0	validated		probablydamaging	
GALT		inserm.fr	GRCh37	9	34648792	34648792	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM321T																					ENST00000378842.3:c.721G>A	p.Val241Ile	p.V241I	ENST00000378842	NM_000155.3	241	Gta/Ata	0	validated		possiblydamaging	
COLEC12		inserm.fr	GRCh37	18	346695	346695	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000400256.3:c.927G>T	p.Gln309His	p.Q309H	ENST00000400256	NM_130386.2	309	caG/caT	0	not done		probablydamaging	
AXIN1		inserm.fr	GRCh37	16	347123	347123	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM399T									Valid												ENST00000262320.3:c.1888C>T	p.Gln630Ter	p.Q630*	ENST00000262320	NM_003502.3	630	Cag/Tag	0	validated		damaging	
CSMD1		inserm.fr	GRCh37	8	3474281	3474281	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000537824.1:c.1048C>T	p.Pro350Ser	p.P350S	ENST00000537824	NM_033225.5	350	Cca/Tca	0	not done		benign	
EPB41L1		inserm.fr	GRCh37	20	34773146	34773146	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000338074.2:c.674G>A	p.Gly225Asp	p.G225D	ENST00000338074	NM_012156.2	225	gGt/gAt	0	not done		probablydamaging	
AXIN1		inserm.fr	GRCh37	16	347909	347909	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1190T									Valid												ENST00000262320.3:c.1597C>T	p.Arg533Ter	p.R533*	ENST00000262320	NM_003502.3	533	Cga/Tga	0	validated		damaging	
AXIN1		inserm.fr	GRCh37	16	347929	347929	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1154T									Valid												ENST00000262320.3:c.1577C>T	p.Ala526Val	p.A526V	ENST00000262320	NM_003502.3	526	gCg/gTg	0	validated		damaging	
AXIN1		inserm.fr	GRCh37	16	348113	348113	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC327T									Valid												ENST00000262320.3:c.1393G>T	p.Glu465Ter	p.E465*	ENST00000262320	NM_003502.3	465	Gag/Tag	0	no detection		damaging	
AXIN1		inserm.fr	GRCh37	16	348116	348116	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1556T									Valid												ENST00000262320.3:c.1390G>T	p.Glu464Ter	p.E464*	ENST00000262320	NM_003502.3	464	Gag/Tag	0	not done		damaging	
CELF4		inserm.fr	GRCh37	18	34853099	34853099	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000420428.2:c.829G>T	p.Ala277Ser	p.A277S	ENST00000420428	NM_020180.3	277	Gca/Tca	0	not done		possiblydamaging	
MYO19		inserm.fr	GRCh37	17	34856698	34856698	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1720T																					ENST00000431794.3:c.2349G>T	p.Gln783His	p.Q783H	ENST00000431794	NM_001163735.1	783	caG/caT	0	not done		benign	
NPSR1		inserm.fr	GRCh37	7	34888095	34888095	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000359791.1:c.845C>A	p.Ala282Asp	p.A282D	ENST00000359791	NM_207173.1	282	gCc/gAc	0	not done		probablydamaging	
NPSR1		inserm.fr	GRCh37	7	34889207	34889207	+	intron_variant	Intron	SNP	G	A	A			CHC1601T																					ENST00000359791.1:c.1025+932G>A		*342*	ENST00000359791	NM_207173.1			0	not done		synonymous	
PDCD2L		inserm.fr	GRCh37	19	34900106	34900106	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000246535.3:c.377G>A	p.Gly126Asp	p.G126D	ENST00000246535	NM_032346.1	126	gGt/gAt	0	not done		benign	
SON		inserm.fr	GRCh37	21	34918591	34918591	+	synonymous_variant	Silent	SNP	T	A	A			CHC1081T																					ENST00000356577.4:c.150T>A	p.Ala50=	p.A50=	ENST00000356577	NM_138927.2	50	gcT/gcA	0	validated		synonymous	
TRPV1		inserm.fr	GRCh37	17	3494303	3494303	+	synonymous_variant	Silent	SNP	G	A	A			CHC2098T																					ENST00000571088.1:c.559C>T	p.Leu187=	p.L187=	ENST00000571088	NM_018727.5	187	Ctg/Ttg	0	validated		synonymous	
ANKS1A		inserm.fr	GRCh37	6	34949622	34949622	+	synonymous_variant	Silent	SNP	G	A	A			BCB325T																					ENST00000360359.3:c.591G>A	p.Val197=	p.V197=	ENST00000360359	NM_015245.2	197	gtG/gtA	0	validated		synonymous	
ANKS1A		inserm.fr	GRCh37	6	34952858	34952858	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			BCM339T																					ENST00000360359.3:c.1013-1G>A		p.X338_splice	ENST00000360359	NM_015245.2			0	validated		damaging	
FAM47B		inserm.fr	GRCh37	X	34961153	34961153	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000329357.5:c.205C>A	p.Leu69Ile	p.L69I	ENST00000329357	NM_152631.2	69	Ctt/Att	0	not done		possiblydamaging	
FAM47B		inserm.fr	GRCh37	X	34961659	34961659	+	synonymous_variant	Silent	SNP	G	A	A			CHC1731T																					ENST00000329357.5:c.711G>A	p.Pro237=	p.P237=	ENST00000329357	NM_152631.2	237	ccG/ccA	0	not done		synonymous	
GJD2		inserm.fr	GRCh37	15	35045107	35045107	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T																					ENST00000290374.4:c.538G>T	p.Gly180Cys	p.G180C	ENST00000290374	NM_020660.2	180	Ggt/Tgt	0	validated		possiblydamaging	
DPY19L1		inserm.fr	GRCh37	7	35053218	35053218	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM703T																					ENST00000310974.4:c.292G>T	p.Val98Phe	p.V98F	ENST00000310974	NM_015283.1	98	Gtc/Ttc	0	validated		possiblydamaging	
ANKS1A		inserm.fr	GRCh37	6	35053667	35053667	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1741T																					ENST00000360359.3:c.3257C>A	p.Ser1086Tyr	p.S1086Y	ENST00000360359	NM_015245.2	1086	tCt/tAt	0	not done		probablydamaging	
DLGAP4		inserm.fr	GRCh37	20	35060663	35060663	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000373913.3:c.543G>A	p.Arg181=	p.R181=	ENST00000373913		181	agG/agA	0	not done		synonymous	
VCP		inserm.fr	GRCh37	9	35060840	35060840	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000358901.6:c.1440G>T	p.Gly480=	p.G480=	ENST00000358901	NM_007126.3	480	ggG/ggT	0	not done		synonymous	
PRLR		inserm.fr	GRCh37	5	35065512	35065512	+	synonymous_variant	Silent	SNP	G	A	A			CHC1211T																					ENST00000382002.5:c.1548C>T	p.Asn516=	p.N516=	ENST00000382002	NM_000949.5	516	aaC/aaT	0	not done		synonymous	
DLGAP4		inserm.fr	GRCh37	20	35071174	35071174	+	synonymous_variant	Silent	SNP	G	A	A			CHC961T																					ENST00000373913.3:c.1401G>A	p.Glu467=	p.E467=	ENST00000373913		467	gaG/gaA	0	validated		synonymous	
ACTC1		inserm.fr	GRCh37	15	35085591	35085591	+	synonymous_variant	Silent	SNP	G	A	A			CHC1148T																					ENST00000290378.4:c.309C>T	p.His103=	p.H103=	ENST00000290378	NM_005159.4	103	caC/caT	0	not done		synonymous	
SNX6		inserm.fr	GRCh37	14	35099144	35099144	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1568T																					ENST00000362031.4:c.59G>T	p.Gly20Val	p.G20V	ENST00000362031	NM_152233.2	20	gGc/gTc	0	not done		possiblydamaging	
SCUBE3		inserm.fr	GRCh37	6	35208994	35208994	+	synonymous_variant	Silent	SNP	C	A	A			CHC1754T																					ENST00000274938.7:c.1146C>A	p.Thr382=	p.T382=	ENST00000274938	NM_152753.2	382	acC/acA	0	not done		synonymous	
SCUBE3		inserm.fr	GRCh37	6	35213113	35213113	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1201T																					ENST00000274938.7:c.2510C>A	p.Pro837Gln	p.P837Q	ENST00000274938	NM_152753.2	837	cCa/cAa	0	not done		probablydamaging	
BAZ1A		inserm.fr	GRCh37	14	35234457	35234457	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1600T																					ENST00000360310.1:c.3319C>T	p.Arg1107Cys	p.R1107C	ENST00000360310	NM_013448.2	1107	Cgt/Tgt	0	not done		probablydamaging	
CD44		inserm.fr	GRCh37	11	35236429	35236429	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000428726.2:c.1841G>A	p.Gly614Glu	p.G614E	ENST00000428726	NM_000610.3	614	gGg/gAg	0	not done		benign	
ZNF76		inserm.fr	GRCh37	6	35248970	35248970	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000373953.3:c.42G>A	p.Gly14=	p.G14=	ENST00000373953	NM_003427.3	14	ggG/ggA	0	not done		synonymous	
GJB3		inserm.fr	GRCh37	1	35250596	35250596	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1731T																					ENST00000373366.2:c.233C>A	p.Ala78Asp	p.A78D	ENST00000373366	NM_024009.2	78	gCc/gAc	0	not done		probablydamaging	
DEF6		inserm.fr	GRCh37	6	35278292	35278292	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000316637.5:c.294G>A	p.Thr98=	p.T98=	ENST00000316637	NM_022047.3	98	acG/acA	0	not done		synonymous	
ATRN		inserm.fr	GRCh37	20	3527942	3527942	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1725T																					ENST00000262919.5:c.749G>A	p.Cys250Tyr	p.C250Y	ENST00000262919	NM_139321.2	250	tGt/tAt	0	not done		probablydamaging	
FZR1		inserm.fr	GRCh37	19	3534802	3534802	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC465T																					ENST00000395095.3:c.1459T>A	p.Ser487Thr	p.S487T	ENST00000395095	NM_001136198.1	487	Tct/Act	0	validated		benign	
DLGAP3		inserm.fr	GRCh37	1	35351770	35351770	+	synonymous_variant	Silent	SNP	G	A	A			CHC2029T																					ENST00000373347.1:c.1503C>T	p.His501=	p.H501=	ENST00000373347		501	caC/caT	0	not done		synonymous	
DLGAP3		inserm.fr	GRCh37	1	35370309	35370309	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373347.1:c.676C>T	p.His226Tyr	p.H226Y	ENST00000373347		226	Cat/Tat	0	not done		possiblydamaging	
AATF		inserm.fr	GRCh37	17	35388944	35388944	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM321T																					ENST00000225402.5:c.1581G>A	p.Met527Ile	p.M527I	ENST00000225402	NM_012138.3	527	atG/atA	0	validated		probablydamaging	
PPARD		inserm.fr	GRCh37	6	35392221	35392221	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1534T																					ENST00000311565.4:c.743G>A	p.Arg248His	p.R248H	ENST00000311565	NM_001171818.1	248	cGc/cAc	0	validated		probablydamaging	
UNC13B		inserm.fr	GRCh37	9	35397646	35397646	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000378495.3:c.3444G>A	p.Val1148=	p.V1148=	ENST00000378495	NM_006377.3	1148	gtG/gtA	0	not done		synonymous	
UNC13B		inserm.fr	GRCh37	9	35398929	35398929	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000378495.3:c.3725G>A	p.Gly1242Asp	p.G1242D	ENST00000378495	NM_006377.3	1242	gGc/gAc	0	not done		benign	
SOGA1		inserm.fr	GRCh37	20	35422369	35422369	+	synonymous_variant	Silent	SNP	C	A	A			CHC1720T																					ENST00000237536.4:c.4116G>T	p.Thr1372=	p.T1372=	ENST00000237536	NM_080627.2	1372	acG/acT	0	not done		synonymous	
FANCE		inserm.fr	GRCh37	6	35423676	35423676	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC798T																					ENST00000229769.2:c.401G>A	p.Arg134His	p.R134H	ENST00000229769	NM_021922.2	134	cGt/cAt	0	validated		benign	
AXIN1		inserm.fr	GRCh37	16	354342	354342	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1185T																					ENST00000262320.3:c.1216G>T	p.Glu406Ter	p.E406*	ENST00000262320	NM_003502.3	406	Gag/Tag	0	validated		damaging	
AXIN1		inserm.fr	GRCh37	16	354342	354342	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1725T									Valid												ENST00000262320.3:c.1216G>T	p.Glu406Ter	p.E406*	ENST00000262320	NM_003502.3	406	Gag/Tag	0	not done		damaging	
SOGA1		inserm.fr	GRCh37	20	35437080	35437080	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000237536.4:c.2650C>T	p.Arg884Trp	p.R884W	ENST00000237536	NM_080627.2	884	Cgg/Tgg	0	not done		probablydamaging	
ZNF792		inserm.fr	GRCh37	19	35449985	35449985	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC433T																					ENST00000404801.1:c.774A>T	p.Glu258Asp	p.E258D	ENST00000404801	NM_175872.4	258	gaA/gaT	0	validated		benign	
TULP1		inserm.fr	GRCh37	6	35471422	35471422	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000229771.6:c.1237C>T	p.Leu413=	p.L413=	ENST00000229771	NM_003322.3	413	Ctg/Ttg	0	not done		synonymous	
ACACA		inserm.fr	GRCh37	17	35478302	35478302	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000353139.5:c.6249G>T	p.Trp2083Cys	p.W2083C	ENST00000353139	NM_198834.1	2083	tgG/tgT	0	not done		probablydamaging	
GRAMD1A		inserm.fr	GRCh37	19	35486979	35486979	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC892T																								ENST00000317991	NM_020895.3			0	not done			
GRAMD1A		inserm.fr	GRCh37	19	35504594	35504594	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000317991.5:c.869G>A	p.Gly290Glu	p.G290E	ENST00000317991	NM_020895.3	290	gGg/gAg	0	not done		possiblydamaging	
TLDC2		inserm.fr	GRCh37	20	35507550	35507550	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000217320.3:c.296G>A	p.Gly99Asp	p.G99D	ENST00000217320	NM_080628.1	99	gGc/gAc	0	not done		benign	
GRAMD1A		inserm.fr	GRCh37	19	35510144	35510144	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000317991.5:c.1263G>A	p.Arg421=	p.R421=	ENST00000317991	NM_020895.3	421	cgG/cgA	0	not done		synonymous	
UNC5D		inserm.fr	GRCh37	8	35542225	35542225	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000404895.2:c.877G>A	p.Gly293Arg	p.G293R	ENST00000404895	NM_080872.2	293	Gga/Aga	0	not done		probablydamaging	
UNC5D		inserm.fr	GRCh37	8	35544095	35544095	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC313T									Valid												ENST00000404895.2:c.952T>A	p.Ser318Thr	p.S318T	ENST00000404895	NM_080872.2	318	Tcc/Acc	0	validated		benign	
HPN		inserm.fr	GRCh37	19	35556462	35556462	+	synonymous_variant	Silent	SNP	C	A	A			CHC1708T																					ENST00000262626.2:c.927C>A	p.Leu309=	p.L309=	ENST00000262626	NM_182983.2	309	ctC/ctA	0	not done		synonymous	
HPN		inserm.fr	GRCh37	19	35556537	35556537	+	synonymous_variant	Silent	SNP	C	A	A			CHC2358T																					ENST00000262626.2:c.1002C>A	p.Pro334=	p.P334=	ENST00000262626	NM_182983.2	334	ccC/ccA	0	validated		synonymous	
UNC5D		inserm.fr	GRCh37	8	35583724	35583724	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1592T																					ENST00000404895.2:c.1358C>A	p.Thr453Lys	p.T453K	ENST00000404895	NM_080872.2	453	aCa/aAa	0	not done		possiblydamaging	
LOC100128675		inserm.fr	GRCh37	19	35597717	35597717	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1191T																					ENST00000313865.6:c.428C>A	p.Ala143Glu	p.A143E	ENST00000313865		143	gCa/gAa	0	not done			
NBEA		inserm.fr	GRCh37	13	35615270	35615270	+	synonymous_variant	Silent	SNP	G	A	A			CHC1148T																					ENST00000400445.3:c.495G>A	p.Leu165=	p.L165=	ENST00000400445	NM_015678.4	165	ctG/ctA	0	validated		synonymous	
LGI4		inserm.fr	GRCh37	19	35617561	35617561	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000310123.3:c.912C>T	p.Ala304=	p.A304=	ENST00000310123	NM_139284.2	304	gcC/gcT	0	not done		synonymous	
NBEA		inserm.fr	GRCh37	13	35619167	35619167	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000400445.3:c.610G>A	p.Gly204Arg	p.G204R	ENST00000400445	NM_015678.4	204	Gga/Aga	0	not done		possiblydamaging	
FXYD7		inserm.fr	GRCh37	19	35642224	35642224	+	synonymous_variant	Silent	SNP	C	A	A			CHC884T																					ENST00000270310.2:c.129C>A	p.Ile43=	p.I43=	ENST00000270310	NM_022006.1	43	atC/atA	0	validated		synonymous	
SPEF2		inserm.fr	GRCh37	5	35700754	35700754	+	synonymous_variant	Silent	SNP	G	A	A			CHC1742T																					ENST00000356031.3:c.2298G>A	p.Ala766=	p.A766=	ENST00000356031	NM_024867.3	766	gcG/gcA	0	not done		synonymous	
ATPBD4		inserm.fr	GRCh37	15	35703046	35703046	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC433T																					ENST00000256538.4:c.557A>T	p.Tyr186Phe	p.Y186F	ENST00000256538	NM_080650.3	186	tAt/tTt	0	validated		benign	
ARMC12		inserm.fr	GRCh37	6	35704929	35704929	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB307T									Valid												ENST00000288065.2:c.44G>A	p.Arg15His	p.R15H	ENST00000288065	NM_145028.3	15	cGc/cAc	0	validated		possiblydamaging	
ARMC12		inserm.fr	GRCh37	6	35705826	35705826	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000288065.2:c.267G>A	p.Arg89=	p.R89=	ENST00000288065	NM_145028.3	89	cgG/cgA	0	not done		synonymous	
TLN1		inserm.fr	GRCh37	9	35717691	35717691	+	synonymous_variant	Silent	SNP	C	A	A			CHC1725T																					ENST00000314888.9:c.2088G>T	p.Ser696=	p.S696=	ENST00000314888	NM_006289.3	696	tcG/tcT	0	not done		synonymous	
NBEA		inserm.fr	GRCh37	13	35731242	35731242	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000400445.3:c.2679G>A	p.Gln893=	p.Q893=	ENST00000400445	NM_015678.4	893	caG/caA	0	not done		synonymous	
NBEA		inserm.fr	GRCh37	13	35733978	35733978	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM695T																					ENST00000400445.3:c.3670G>A	p.Asp1224Asn	p.D1224N	ENST00000400445	NM_015678.4	1224	Gac/Aac	0	validated		benign	
HMG20B		inserm.fr	GRCh37	19	3574460	3574460	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000333651.6:c.227G>A	p.Gly76Asp	p.G76D	ENST00000333651	NM_006339.2	76	gGc/gAc	0	not done		probablydamaging	
CLPSL2		inserm.fr	GRCh37	6	35747200	35747200	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000403376.3:c.276G>A	p.Met92Ile	p.M92I	ENST00000403376	NM_207409.2	92	atG/atA	0	not done		benign	
MROH8		inserm.fr	GRCh37	20	35749379	35749379	+	synonymous_variant	Silent	SNP	G	A	A			CHC1715T																					ENST00000343811.4:c.2117C>T	p.Asn706=	p.N706=	ENST00000343811	NM_152503.4	706	aaC/aaT	0	not done			
NBEA		inserm.fr	GRCh37	13	35751220	35751220	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000400445.3:c.4642G>A	p.Ala1548Thr	p.A1548T	ENST00000400445	NM_015678.4	1548	Gct/Act	0	not done		probablydamaging	
SPEF2		inserm.fr	GRCh37	5	35771794	35771794	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000356031.3:c.3885G>A	p.Met1295Ile	p.M1295I	ENST00000356031	NM_024867.3	1295	atG/atA	0	not done		benign	
HAMP		inserm.fr	GRCh37	19	35775695	35775695	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000598398.1:c.94G>A	p.Gly32Arg	p.G32R	ENST00000598398	NM_021175.2	32	Gga/Aga	0	not done		benign	
PSMA6		inserm.fr	GRCh37	14	35782215	35782215	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1742T																					ENST00000261479.4:c.538G>A	p.Glu180Lys	p.E180K	ENST00000261479	NM_002791.1	180	Gaa/Aaa	0	not done		probablydamaging	
HMOX1		inserm.fr	GRCh37	22	35789554	35789554	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1704T																					ENST00000216117.8:c.830T>A	p.Leu277Gln	p.L277Q	ENST00000216117	NM_002133.2	277	cTg/cAg	0	not done		possiblydamaging	
CLUAP1		inserm.fr	GRCh37	16	3580581	3580581	+	synonymous_variant	Silent	SNP	G	A	A			CHC1611T																					ENST00000576634.1:c.942G>A	p.Ser314=	p.S314=	ENST00000576634	NM_015041.2	314	tcG/tcA	0	not done		synonymous	
MCM5		inserm.fr	GRCh37	22	35811835	35811835	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000216122.4:c.1217G>A	p.Gly406Glu	p.G406E	ENST00000216122	NM_006739.3	406	gGg/gAg	0	not done		possiblydamaging	
MCM5		inserm.fr	GRCh37	22	35812651	35812651	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000216122.4:c.1434G>A	p.Leu478=	p.L478=	ENST00000216122	NM_006739.3	478	ctG/ctA	0	not done		synonymous	
MCM5		inserm.fr	GRCh37	22	35820162	35820162	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000216122.4:c.2119G>A	p.Ala707Thr	p.A707T	ENST00000216122	NM_006739.3	707	Gcc/Acc	0	not done		benign	
MAGEB16		inserm.fr	GRCh37	X	35820902	35820902	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1539T																					ENST00000399989.1:c.589G>A	p.Glu197Lys	p.E197K	ENST00000399989	NM_001099921.1	197	Gaa/Aaa	0	not done		probablydamaging	
MAGEB16		inserm.fr	GRCh37	X	35821096	35821096	+	synonymous_variant	Silent	SNP	G	A	A			CHC197T																					ENST00000399989.1:c.783G>A	p.Glu261=	p.E261=	ENST00000399989	NM_001099921.1	261	gaG/gaA	0	validated		synonymous	
ZMYM4		inserm.fr	GRCh37	1	35826846	35826846	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM439T																					ENST00000314607.6:c.659C>A	p.Thr220Lys	p.T220K	ENST00000314607	NM_005095.2	220	aCa/aAa	0	validated		possiblydamaging	
CD22		inserm.fr	GRCh37	19	35832315	35832315	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000085219.5:c.1577G>A	p.Ser526Asn	p.S526N	ENST00000085219	NM_001771.3	526	aGc/aAc	0	not done		possiblydamaging	
SRPK1		inserm.fr	GRCh37	6	35840382	35840382	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC2200T																					ENST00000373825.2:c.709G>T	p.Glu237Ter	p.E237*	ENST00000373825		237	Gaa/Taa	0	not done		damaging	
ZMYM4		inserm.fr	GRCh37	1	35851181	35851181	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000314607.6:c.1708G>A	p.Val570Ile	p.V570I	ENST00000314607	NM_005095.2	570	Gtt/Att	0	not done		probablydamaging	
TMEM8B		inserm.fr	GRCh37	9	35853793	35853793	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1091T																					ENST00000377988.2:c.1375G>A	p.Val459Met	p.V459M	ENST00000377988	NM_001042590.2	459	Gtg/Atg	0	validated		probablydamaging	
GJD4		inserm.fr	GRCh37	10	35896802	35896802	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000321660.1:c.361C>A	p.Gln121Lys	p.Q121K	ENST00000321660	NM_153368.2	121	Cag/Aag	0	not done		benign	
LINC00955		inserm.fr	GRCh37	4	3590852	3590852	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2052T																					ENST00000514422.1:c.337C>A	p.Pro113Thr	p.P113T	ENST00000514422		113	Cca/Aca	0	not done			
SLC26A8		inserm.fr	GRCh37	6	35919067	35919067	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC451T																					ENST00000490799.1:c.2345C>T	p.Thr782Ile	p.T782I	ENST00000490799	NM_052961.3	782	aCc/aTc	0	validated		benign	
MANBAL		inserm.fr	GRCh37	20	35929754	35929754	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373605.3:c.88G>A	p.Ala30Thr	p.A30T	ENST00000373605		30	Gcc/Acc	0	not done		probablydamaging	
CXorf22		inserm.fr	GRCh37	X	35938094	35938094	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1736T																					ENST00000297866.5:c.178C>A	p.Leu60Ile	p.L60I	ENST00000297866	NM_152632.3	60	Ctc/Atc	0	not done		possiblydamaging	
FFAR2		inserm.fr	GRCh37	19	35941535	35941535	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000599180.2:c.919G>A	p.Ala307Thr	p.A307T	ENST00000599180		307	Gca/Aca	0	not done		benign	
FFAR2		inserm.fr	GRCh37	19	35941559	35941559	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000599180.2:c.943G>A	p.Gly315Ser	p.G315S	ENST00000599180		315	Ggt/Agt	0	not done		benign	
NLRC3		inserm.fr	GRCh37	16	3594302	3594302	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000448023.2:c.2937C>T	p.Asp979=	p.D979=	ENST00000448023		979	gaC/gaT	0	validated		synonymous	
TBXA2R		inserm.fr	GRCh37	19	3595779	3595779	+	synonymous_variant	Silent	SNP	G	A	A			BCM269T																					ENST00000411851.3:c.939C>T	p.Arg313=	p.R313=	ENST00000411851		313	cgC/cgT	0	validated		synonymous	
DDX52		inserm.fr	GRCh37	17	35981204	35981204	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB109T									Valid												ENST00000349699.2:c.1469C>T	p.Pro490Leu	p.P490L	ENST00000349699	NM_007010.3	490	cCa/cTa	0	validated		probablydamaging	
IRX1		inserm.fr	GRCh37	5	3599645	3599645	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC469T									Valid												ENST00000302006.3:c.583G>A	p.Ala195Thr	p.A195T	ENST00000302006	NM_024337.3	195	Gcg/Acg	0	validated		benign	
IRX1		inserm.fr	GRCh37	5	3599879	3599879	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM375T									Valid												ENST00000302006.3:c.817G>A	p.Asp273Asn	p.D273N	ENST00000302006	NM_024337.3	273	Gac/Aac	0	validated		possiblydamaging	
IRX1		inserm.fr	GRCh37	5	3600126	3600126	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2141T																					ENST00000302006.3:c.1064C>A	p.Pro355His	p.P355H	ENST00000302006	NM_024337.3	355	cCc/cAc	0	not done		probablydamaging	
INSM2		inserm.fr	GRCh37	14	36003896	36003896	+	synonymous_variant	Silent	SNP	C	A	A			CHC320T																					ENST00000307169.3:c.438C>A	p.Ala146=	p.A146=	ENST00000307169	NM_032594.3	146	gcC/gcA	0	validated		synonymous	
GAPDHS		inserm.fr	GRCh37	19	36029264	36029264	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM399T									Valid												ENST00000222286.4:c.301G>A	p.Val101Met	p.V101M	ENST00000222286	NM_014364.4	101	Gtg/Atg	0	validated		probablydamaging	
UGT3A2		inserm.fr	GRCh37	5	36035914	36035914	+	synonymous_variant	Silent	SNP	G	A	A			BCM695T																					ENST00000282507.3:c.1458C>T	p.Leu486=	p.L486=	ENST00000282507	NM_174914.3	486	ctC/ctT	0	validated		synonymous	
CLIC6		inserm.fr	GRCh37	21	36042844	36042844	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000349499.2:c.1157C>A	p.Ala386Glu	p.A386E	ENST00000349499	NM_053277.1	386	gCa/gAa	0	not done		benign	
CLIC6		inserm.fr	GRCh37	21	36042853	36042853	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000349499.2:c.1166G>A	p.Gly389Asp	p.G389D	ENST00000349499	NM_053277.1	389	gGc/gAc	0	not done		probablydamaging	
ATP4A		inserm.fr	GRCh37	19	36048682	36048682	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1749T																					ENST00000262623.3:c.1568A>T	p.Glu523Val	p.E523V	ENST00000262623	NM_000704.2	523	gAg/gTg	0	not done		probablydamaging	
APOL6		inserm.fr	GRCh37	22	36052506	36052506	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000409652.4:c.34G>A	p.Gly12Ser	p.G12S	ENST00000409652	NM_030641.3	12	Ggt/Agt	0	not done		probablydamaging	
APOL6		inserm.fr	GRCh37	22	36055280	36055280	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000409652.4:c.669G>A	p.Ala223=	p.A223=	ENST00000409652	NM_030641.3	223	gcG/gcA	0	validated		synonymous	
TFAP2E		inserm.fr	GRCh37	1	36060250	36060250	+	synonymous_variant	Silent	SNP	G	A	A			CHC1053T																					ENST00000373235.3:c.1302G>A	p.Ser434=	p.S434=	ENST00000373235	NM_178548.3	434	tcG/tcA	0	validated		synonymous	
CLIC6		inserm.fr	GRCh37	21	36080277	36080277	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1192T																					ENST00000349499.2:c.1520C>A	p.Thr507Lys	p.T507K	ENST00000349499	NM_053277.1	507	aCa/aAa	0	not done		probablydamaging	
MAPK13		inserm.fr	GRCh37	6	36104493	36104493	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000211287.4:c.556C>A	p.Arg186Ser	p.R186S	ENST00000211287	NM_002754.4	186	Cgc/Agc	0	not done		probablydamaging	
CHDC2		inserm.fr	GRCh37	X	36122752	36122752	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC429T																					ENST00000313548.4:c.989G>A	p.Trp330Ter	p.W330*	ENST00000313548	NM_173695.2	330	tGg/tAg	0	validated		damaging	
ARAP2		inserm.fr	GRCh37	4	36134893	36134893	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1725T																					ENST00000303965.4:c.3382G>T	p.Val1128Phe	p.V1128F	ENST00000303965	NM_015230.3	1128	Gtt/Ttt	0	not done		probablydamaging	
LMBRD2		inserm.fr	GRCh37	5	36137441	36137441	+	synonymous_variant	Silent	SNP	G	A	A			CHC2110Tbis																					ENST00000296603.4:c.471C>T	p.Thr157=	p.T157=	ENST00000296603	NM_001007527.1	157	acC/acT	0	validated		synonymous	
NLRC3		inserm.fr	GRCh37	16	3613906	3613906	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000448023.2:c.1173C>T	p.Arg391=	p.R391=	ENST00000448023		391	cgC/cgT	0	not done		synonymous	
NLRC3		inserm.fr	GRCh37	16	3614016	3614016	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC433T									Valid												ENST00000448023.2:c.1063C>T	p.Leu355Phe	p.L355F	ENST00000448023		355	Ctt/Ttt	0	validated		probablydamaging	
NBEA		inserm.fr	GRCh37	13	36141058	36141058	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1152T																					ENST00000400445.3:c.6939T>A	p.Asp2313Glu	p.D2313E	ENST00000400445	NM_015678.4	2313	gaT/gaA	0	not done		probablydamaging	
GLIPR2		inserm.fr	GRCh37	9	36148607	36148607	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000377960.4:c.186G>A	p.Gln62=	p.Q62=	ENST00000377960	NM_022343.2	62	caG/caA	0	not done		synonymous	
RALGAPA1		inserm.fr	GRCh37	14	36155861	36155861	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC059T									Valid												ENST00000307138.6:c.2446G>T	p.Asp816Tyr	p.D816Y	ENST00000307138	NM_194301.2	816	Gac/Tac	0	validated		probablydamaging	
UPK1A		inserm.fr	GRCh37	19	36164142	36164142	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000222275.2:c.294G>A	p.Val98=	p.V98=	ENST00000222275	NM_007000.3	98	gtG/gtA	0	not done		synonymous	
BRPF3		inserm.fr	GRCh37	6	36169102	36169102	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000357641.6:c.1003G>A	p.Ala335Thr	p.A335T	ENST00000357641	NM_015695.2	335	Gca/Aca	0	not done		probablydamaging	
BRPF3		inserm.fr	GRCh37	6	36178210	36178210	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000357641.6:c.2084G>A	p.Arg695Gln	p.R695Q	ENST00000357641	NM_015695.2	695	cGg/cAg	0	not done		probablydamaging	
ARAP2		inserm.fr	GRCh37	4	36179625	36179625	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	A	A			CHC1053T									Valid												ENST00000303965.4:c.1681G>T	p.Glu561Ter	p.E561*	ENST00000303965	NM_015230.3	561	Gag/Tag	0	validated		damaging	
BRPF3		inserm.fr	GRCh37	6	36181699	36181699	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000357641.6:c.2525G>A	p.Gly842Glu	p.G842E	ENST00000357641	NM_015695.2	842	gGg/gAg	0	not done		probablydamaging	
MLL4		inserm.fr	GRCh37	19	36211821	36211821	+	synonymous_variant	Silent	SNP	C	A	A			CHC892T																					ENST00000222270.7:c.1572C>A	p.Ile524=	p.I524=	ENST00000222270	NM_014727.1	524	atC/atA	0	not done		synonymous	
MLL4		inserm.fr	GRCh37	19	36224700	36224700	+	synonymous_variant	Silent	SNP	G	A	A			CHC1209T																					ENST00000222270.7:c.7086G>A	p.Pro2362=	p.P2362=	ENST00000222270	NM_014727.1	2362	ccG/ccA	0	not done		synonymous	
CLSPN		inserm.fr	GRCh37	1	36228764	36228764	+	synonymous_variant	Silent	SNP	G	A	A			CHC1717T																					ENST00000318121.3:c.741C>T	p.His247=	p.H247=	ENST00000318121	NM_022111.3	247	caC/caT	0	validated		synonymous	
LIN37		inserm.fr	GRCh37	19	36239649	36239649	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000301159.9:c.24G>A	p.Val8=	p.V8=	ENST00000301159	NM_019104.2	8	gtG/gtA	0	not done		synonymous	
HSPB6		inserm.fr	GRCh37	19	36246769	36246769	+	synonymous_variant	Silent	SNP	C	A	A			CHC433T																					ENST00000592984.1:c.225G>T	p.Ser75=	p.S75=	ENST00000592984		75	tcG/tcT	0	validated		synonymous	
C19orf55		inserm.fr	GRCh37	19	36250277	36250277	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	A	A			BCM695T									Valid												ENST00000544099.1:c.14T>A	p.Leu5Gln	p.L5Q	ENST00000544099		5	cTg/cAg	0	validated		possiblydamaging	
C19orf55		inserm.fr	GRCh37	19	36257797	36257797	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2098T																					ENST00000544099.1:c.898C>A	p.Gln300Lys	p.Q300K	ENST00000544099		300	Cag/Aag	0	validated		benign	
ARHGAP33		inserm.fr	GRCh37	19	36271228	36271228	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1756T																					ENST00000314737.5:c.617C>A	p.Ser206Tyr	p.S206Y	ENST00000314737	NM_052948.3	206	tCc/tAc	0	not done		probablydamaging	
GSG2		inserm.fr	GRCh37	17	3629327	3629327	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000325418.4:c.2098G>A	p.Val700Ile	p.V700I	ENST00000325418	NM_031965.2	700	Gtt/Att	0	not done		benign	
NPHS1		inserm.fr	GRCh37	19	36317544	36317544	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000378910.5:c.3598C>T	p.Pro1200Ser	p.P1200S	ENST00000378910	NM_004646.3	1200	Ccc/Tcc	0	not done		benign	
DTHD1		inserm.fr	GRCh37	4	36317864	36317864	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000456874.2:c.1721G>A	p.Ser574Asn	p.S574N	ENST00000456874	NM_001170700.2	574	aGc/aAc	0	not done		benign	
NPHS1		inserm.fr	GRCh37	19	36322635	36322635	+	synonymous_variant	Silent	SNP	G	A	A			CHC1746T																					ENST00000378910.5:c.3196C>T	p.Leu1066=	p.L1066=	ENST00000378910	NM_004646.3	1066	Ctg/Ttg	0	not done		synonymous	
NPHS1		inserm.fr	GRCh37	19	36330271	36330271	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000378910.5:c.2977C>T	p.Pro993Ser	p.P993S	ENST00000378910	NM_004646.3	993	Ccc/Tcc	0	not done		benign	
BRMS1L		inserm.fr	GRCh37	14	36331799	36331799	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM759T																					ENST00000216807.7:c.445G>A	p.Glu149Lys	p.E149K	ENST00000216807	NM_032352.3	149	Gaa/Aaa	0	validated		possiblydamaging	
CXorf30		inserm.fr	GRCh37	X	36337355	36337355	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC469T																					ENST00000378657.4:c.714T>A	p.Asp238Glu	p.D238E	ENST00000378657	NM_001098843.4	238	gaT/gaA	0	validated		benign	
NPHS1		inserm.fr	GRCh37	19	36339629	36339629	+	synonymous_variant	Silent	SNP	G	A	A			CHC1616T																					ENST00000378910.5:c.1080C>T	p.Ser360=	p.S360=	ENST00000378910	NM_004646.3	360	tcC/tcT	0	not done		synonymous	
NPHS1		inserm.fr	GRCh37	19	36342709	36342709	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB151T																					ENST00000378910.5:c.31C>T	p.Leu11Phe	p.L11F	ENST00000378910	NM_004646.3	11	Ctc/Ttc	0	validated		probablydamaging	
DTHD1		inserm.fr	GRCh37	4	36345155	36345155	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000456874.2:c.2055G>A	p.Leu685=	p.L685=	ENST00000456874	NM_001170700.2	685	ctG/ctA	0	not done		synonymous	
RNF38		inserm.fr	GRCh37	9	36351198	36351198	+	splice_acceptor_variant	Splice_Site	SNP	T	A	A			CHC1603T																					ENST00000259605.6:c.1179-2A>T		p.X393_splice	ENST00000259605	NM_022781.4			0	not done		possiblydamaging	
KIRREL2		inserm.fr	GRCh37	19	36352719	36352719	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC889T																					ENST00000360202.5:c.1303G>A	p.Asp435Asn	p.D435N	ENST00000360202	NM_032123.5	435	Gat/Aat	0	not done		probablydamaging	
RNF38		inserm.fr	GRCh37	9	36356380	36356380	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1061T									Valid												ENST00000259605.6:c.829C>T	p.Pro277Ser	p.P277S	ENST00000259605	NM_022781.4	277	Cct/Tct	0	validated		probablydamaging	
MATCAP2		inserm.fr	GRCh37	7	36366437	36366437	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM325T																					ENST00000297063.6:c.1495A>T	p.Met499Leu	p.M499L	ENST00000297063	NM_001100425.1	499	Atg/Ttg	0	validated		probablydamaging	
NFKBID		inserm.fr	GRCh37	19	36379480	36379480	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1749T																					ENST00000396901.1:c.923C>T	p.Pro308Leu	p.P308L	ENST00000396901	NM_139239.1	308	cCg/cTg	0	not done		probablydamaging	
EIF2C1		inserm.fr	GRCh37	1	36384013	36384013	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC799T																					ENST00000373204.4:c.2254G>A	p.Ala752Thr	p.A752T	ENST00000373204	NM_012199.2	752	Gca/Aca	0	not done		possiblydamaging	
MATCAP2		inserm.fr	GRCh37	7	36396656	36396656	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC051T									Valid												ENST00000297063.6:c.722C>T	p.Ala241Val	p.A241V	ENST00000297063	NM_001100425.1	241	gCt/gTt	0	validated		probablydamaging	
CTNNBL1		inserm.fr	GRCh37	20	36407706	36407706	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2098T																					ENST00000361383.6:c.1000G>A	p.Glu334Lys	p.E334K	ENST00000361383	NM_030877.4	334	Gag/Aag	0	not done		probablydamaging	
DCLK1		inserm.fr	GRCh37	13	36413279	36413279	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1744T																					ENST00000255448.4:c.1070C>T	p.Ala357Val	p.A357V	ENST00000255448	NM_004734.4	357	gCg/gTg	0	not done		possiblydamaging	
LRFN3		inserm.fr	GRCh37	19	36431638	36431638	+	synonymous_variant	Silent	SNP	G	A	A			CHC051T																					ENST00000588831.1:c.1311G>A	p.Gly437=	p.G437=	ENST00000588831		437	ggG/ggA	0	validated		synonymous	
DCLK1		inserm.fr	GRCh37	13	36445479	36445479	+	splice_acceptor_variant	Splice_Site	SNP	T	A	A			CHC2052T																					ENST00000255448.4:c.824-2A>T		p.X275_splice	ENST00000255448	NM_004734.4			0	not done		damaging	
TP73		inserm.fr	GRCh37	1	3644761	3644761	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM695T									Valid												ENST00000378295.4:c.1054G>A	p.Glu352Lys	p.E352K	ENST00000378295	NM_005427.3	352	Gag/Aag	0	validated		probablydamaging	
ANLN		inserm.fr	GRCh37	7	36450314	36450314	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000265748.2:c.1287+1G>A		p.X429_splice	ENST00000265748	NM_018685.2			0	not done		damaging	
EIF2C3		inserm.fr	GRCh37	1	36475119	36475119	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC205T									Valid												ENST00000373191.4:c.1073C>A	p.Thr358Lys	p.T358K	ENST00000373191	NM_024852.3	358	aCa/aAa	0	validated		probablydamaging	
GPR179		inserm.fr	GRCh37	17	36486998	36486998	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000342292.4:c.2454C>T	p.Ala818=	p.A818=	ENST00000342292	NM_001004334.2	818	gcC/gcT	0	not done		synonymous	
ANLN		inserm.fr	GRCh37	7	36489322	36489322	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC451T																					ENST00000265748.2:c.3127G>A	p.Glu1043Lys	p.E1043K	ENST00000265748	NM_018685.2	1043	Gaa/Aaa	0	validated		possiblydamaging	
GPR179		inserm.fr	GRCh37	17	36491542	36491542	+	synonymous_variant	Silent	SNP	G	A	A			CHC1053T																					ENST00000342292.4:c.1338C>T	p.Ile446=	p.I446=	ENST00000342292	NM_001004334.2	446	atC/atT	0	validated		synonymous	
TP73		inserm.fr	GRCh37	1	3649409	3649409	+	synonymous_variant	Silent	SNP	G	A	A			CHC2110Tbis																					ENST00000378295.4:c.1677G>A	p.Gln559=	p.Q559=	ENST00000378295	NM_005427.3	559	caG/caA	0	not done		synonymous	
TP73		inserm.fr	GRCh37	1	3649410	3649410	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2110Tbis																					ENST00000378295.4:c.1678C>A	p.Leu560Met	p.L560M	ENST00000378295	NM_005427.3	560	Ctg/Atg	0	not done		probablydamaging	
TRAF6		inserm.fr	GRCh37	11	36511910	36511910	+	synonymous_variant	Silent	SNP	G	A	A			CHC1079T																					ENST00000526995.1:c.1047C>T	p.Cys349=	p.C349=	ENST00000526995	NM_004620.3	349	tgC/tgT	0	not done		synonymous	
CLIP3		inserm.fr	GRCh37	19	36517155	36517155	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1741T																					ENST00000360535.4:c.575C>T	p.Thr192Met	p.T192M	ENST00000360535	NM_015526.2	192	aCg/aTg	0	validated		probablydamaging	
ADAM33		inserm.fr	GRCh37	20	3651784	3651784	+	synonymous_variant	Silent	SNP	C	A	A			BCM723T																					ENST00000356518.2:c.2109G>T	p.Leu703=	p.L703=	ENST00000356518	NM_025220.2	703	ctG/ctT	0	validated		synonymous	
TEKT2		inserm.fr	GRCh37	1	36551523	36551523	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000207457.3:c.369G>A	p.Arg123=	p.R123=	ENST00000207457	NM_014466.2	123	cgG/cgA	0	not done		synonymous	
TEKT2		inserm.fr	GRCh37	1	36552629	36552629	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000207457.3:c.730G>A	p.Ala244Thr	p.A244T	ENST00000207457	NM_014466.2	244	Gct/Act	0	not done		benign	
COL8A2		inserm.fr	GRCh37	1	36565840	36565840	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000397799.1:c.4C>T	p.Leu2=	p.L2=	ENST00000397799		2	Ctg/Ttg	0	not done		synonymous	
RAG1		inserm.fr	GRCh37	11	36596903	36596903	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000299440.5:c.2049G>A	p.Glu683=	p.E683=	ENST00000299440	NM_000448.2	683	gaG/gaA	0	not done		synonymous	
RAG1		inserm.fr	GRCh37	11	36597353	36597353	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000299440.5:c.2499G>A	p.Gln833=	p.Q833=	ENST00000299440	NM_000448.2	833	caG/caA	0	not done		synonymous	
ITGAE		inserm.fr	GRCh37	17	3660367	3660367	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000263087.4:c.1082C>T	p.Pro361Leu	p.P361L	ENST00000263087	NM_002208.4	361	cCg/cTg	0	not done		probablydamaging	
POLR2I		inserm.fr	GRCh37	19	36605249	36605249	+	synonymous_variant	Silent	SNP	G	A	A			CHC2099T																					ENST00000221859.4:c.180C>T	p.His60=	p.H60=	ENST00000221859	NM_006233.4	60	caC/caT	0	not done		synonymous	
RAG2		inserm.fr	GRCh37	11	36615212	36615212	+	synonymous_variant	Silent	SNP	T	A	A			CHC2362T																					ENST00000311485.3:c.507A>T	p.Thr169=	p.T169=	ENST00000311485	NM_000536.3	169	acA/acT	0	validated		synonymous	
RAG2		inserm.fr	GRCh37	11	36615318	36615318	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000311485.3:c.401C>T	p.Pro134Leu	p.P134L	ENST00000311485	NM_000536.3	134	cCt/cTt	0	not done		probablydamaging	
ARHGAP23		inserm.fr	GRCh37	17	36619568	36619568	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			BCM567T																					ENST00000431231.2:c.429-1G>A		p.X143_splice	ENST00000431231	NM_001199417.1			0	validated		damaging	
ARHGAP23		inserm.fr	GRCh37	17	36623406	36623406	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000431231.2:c.1482G>A	p.Lys494=	p.K494=	ENST00000431231	NM_001199417.1	494	aaG/aaA	0	not done		synonymous	
CAPNS1		inserm.fr	GRCh37	19	36633626	36633626	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM337T																					ENST00000246533.3:c.316G>A	p.Ala106Thr	p.A106T	ENST00000246533	NM_001749.2	106	Gcc/Acc	0	validated		benign	
MELK		inserm.fr	GRCh37	9	36643018	36643018	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1744T																					ENST00000298048.2:c.859G>A	p.Val287Ile	p.V287I	ENST00000298048	NM_014791.3	287	Gta/Ata	0	not done		benign	
APOL1		inserm.fr	GRCh37	22	36657661	36657661	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000319136.4:c.255G>A	p.Glu85=	p.E85=	ENST00000319136	NM_145343.2	85	gaG/gaA	0	not done		synonymous	
MYH9		inserm.fr	GRCh37	22	36681231	36681231	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC793T																					ENST00000216181.5:c.5419G>T	p.Ala1807Ser	p.A1807S	ENST00000216181	NM_002473.4	1807	Gcc/Tcc	0	validated		benign	
RAB44		inserm.fr	GRCh37	6	36689973	36689973	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1743T																					ENST00000229824.8:c.1743G>A	p.Asp582Asn	p.D582N	ENST00000229824	NM_001257357.1	582	Gac/Aac	0	not done			
KCNU1		inserm.fr	GRCh37	8	36698089	36698089	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC891T																					ENST00000399881.3:c.1627G>A	p.Ala543Thr	p.A543T	ENST00000399881	NM_001031836.2	543	Gcc/Acc	0	not done		possiblydamaging	
DCLK1		inserm.fr	GRCh37	13	36700199	36700199	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC801T																					ENST00000255448.4:c.76C>T	p.Arg26Trp	p.R26W	ENST00000255448	NM_004734.4	26	Cgg/Tgg	0	not done		probablydamaging	
MYH9		inserm.fr	GRCh37	22	36702050	36702050	+	synonymous_variant	Silent	SNP	G	A	A			CHC1595T																					ENST00000216181.5:c.2085C>T	p.Asn695=	p.N695=	ENST00000216181	NM_002473.4	695	aaC/aaT	0	validated		synonymous	
MYH9		inserm.fr	GRCh37	22	36705385	36705385	+	synonymous_variant	Silent	SNP	G	A	A			CHC1207T																					ENST00000216181.5:c.1785C>T	p.Asn595=	p.N595=	ENST00000216181	NM_002473.4	595	aaC/aaT	0	not done		synonymous	
CCDC27		inserm.fr	GRCh37	1	3670785	3670785	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1035T									Valid												ENST00000294600.2:c.422C>A	p.Ala141Asp	p.A141D	ENST00000294600	NM_152492.2	141	gCc/gAc	0	validated		probablydamaging	
CPNE5		inserm.fr	GRCh37	6	36716015	36716015	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC320T									Valid												ENST00000244751.2:c.1001A>T	p.Asp334Val	p.D334V	ENST00000244751	NM_020939.1	334	gAt/gTt	0	validated		probablydamaging	
SIGLEC1		inserm.fr	GRCh37	20	3672565	3672565	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC465T									Valid												ENST00000344754.4:c.4315C>T	p.Arg1439Trp	p.R1439W	ENST00000344754	NM_023068.3	1439	Cgg/Tgg	0	validated		probablydamaging	
SOHLH2		inserm.fr	GRCh37	13	36747909	36747909	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC896T																					ENST00000511166.1:c.1151G>T	p.Gly384Val	p.G384V	ENST00000511166	NM_001198910.1	384	gGg/gTg	0	not done		possiblydamaging	
SOHLH2		inserm.fr	GRCh37	13	36748864	36748864	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1152T																					ENST00000511166.1:c.1015G>T	p.Ala339Ser	p.A339S	ENST00000511166	NM_001198910.1	339	Gcc/Tcc	0	not done		benign	
DCLK3		inserm.fr	GRCh37	3	36759593	36759593	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1751T																					ENST00000416516.2:c.1661G>T	p.Arg554Leu	p.R554L	ENST00000416516	NM_033403.1	554	cGc/cTc	0	not done		probablydamaging	
CRIM1		inserm.fr	GRCh37	2	36764602	36764602	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC121T									Valid												ENST00000280527.2:c.2536C>A	p.Gln846Lys	p.Q846K	ENST00000280527	NM_016441.2	846	Cag/Aag	0	validated		probablydamaging	
SIGLEC1		inserm.fr	GRCh37	20	3677365	3677365	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000344754.4:c.2551C>T	p.Gln851Ter	p.Q851*	ENST00000344754	NM_023068.3	851	Cag/Tag	0	not done		damaging	
TGM2		inserm.fr	GRCh37	20	36775212	36775212	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1061T									Valid												ENST00000361475.2:c.766G>T	p.Gly256Cys	p.G256C	ENST00000361475	NM_004613.2	256	Ggc/Tgc	0	validated		probablydamaging	
SH3D21		inserm.fr	GRCh37	1	36786011	36786011	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC432T																					ENST00000453908.2:c.1747G>A	p.Glu583Lys	p.E583K	ENST00000453908	NM_001162530.1	583	Gaa/Aaa	0	not done		benign	
SH3D21		inserm.fr	GRCh37	1	36786710	36786710	+	synonymous_variant	Silent	SNP	G	A	A			CHC2200T																					ENST00000453908.2:c.2253G>A	p.Thr751=	p.T751=	ENST00000453908	NM_001162530.1	751	acG/acA	0	not done		synonymous	
CCDC169		inserm.fr	GRCh37	13	36822790	36822790	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000503173.1:c.498G>T	p.Arg166Ser	p.R166S	ENST00000503173	NM_001198908.1	166	agG/agT	0	not done			
FEZ2		inserm.fr	GRCh37	2	36825058	36825058	+	synonymous_variant	Silent	SNP	C	A	A			CHC1545T																					ENST00000379245.4:c.228G>T	p.Val76=	p.V76=	ENST00000379245	NM_001042548.1	76	gtG/gtT	0	validated		synonymous	
C17orf96		inserm.fr	GRCh37	17	36830354	36830354	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1751T																					ENST00000325814.5:c.395G>T	p.Arg132Leu	p.R132L	ENST00000325814	NM_001130677.1	132	cGc/cTc	0	validated		probablydamaging	
PRMT8		inserm.fr	GRCh37	12	3686110	3686110	+	synonymous_variant	Silent	SNP	C	A	A			CHC2127T																					ENST00000382622.3:c.786C>A	p.Ile262=	p.I262=	ENST00000382622	NM_019854.4	262	atC/atA	0	not done		synonymous	
SIGLEC1		inserm.fr	GRCh37	20	3686542	3686542	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000344754.4:c.555C>T	p.Thr185=	p.T185=	ENST00000344754	NM_023068.3	185	acC/acT	0	not done		synonymous	
KIAA1755		inserm.fr	GRCh37	20	36869919	36869919	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC326T																					ENST00000279024.4:c.614C>T	p.Pro205Leu	p.P205L	ENST00000279024	NM_001029864.1	205	cCa/cTa	0	validated		benign	
MLLT6		inserm.fr	GRCh37	17	36873172	36873172	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000325718.7:c.1589G>A	p.Arg530Gln	p.R530Q	ENST00000325718	NM_005937.3	530	cGa/cAa	0	validated		probablydamaging	
TRANK1		inserm.fr	GRCh37	3	36896857	36896857	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC902T																					ENST00000429976.2:c.4224A>T	p.Lys1408Asn	p.K1408N	ENST00000429976		1408	aaA/aaT	0	not done		probablydamaging	
EIF3D		inserm.fr	GRCh37	22	36922099	36922099	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC2034T																					ENST00000216190.8:c.70C>T	p.Gln24Ter	p.Q24*	ENST00000216190	NM_003753.3	24	Cag/Tag	0	not done		damaging	
PRMT8		inserm.fr	GRCh37	12	3692229	3692229	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000382622.3:c.834G>A	p.Val278=	p.V278=	ENST00000382622	NM_019854.4	278	gtG/gtA	0	not done		synonymous	
PI16		inserm.fr	GRCh37	6	36922686	36922686	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000373674.3:c.150G>A	p.Thr50=	p.T50=	ENST00000373674	NM_153370.2	50	acG/acA	0	not done		synonymous	
PIP4K2B		inserm.fr	GRCh37	17	36925987	36925987	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC433T									Valid												ENST00000269554.3:c.1208A>T	p.Tyr403Phe	p.Y403F	ENST00000269554	NM_003559.4	403	tAc/tTc	0	validated		probablydamaging	
PI16		inserm.fr	GRCh37	6	36926930	36926930	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1611T																					ENST00000373674.3:c.181G>A	p.Glu61Lys	p.E61K	ENST00000373674	NM_153370.2	61	Gag/Aag	0	not done		probablydamaging	
PI16		inserm.fr	GRCh37	6	36929674	36929674	+	synonymous_variant	Silent	SNP	G	A	A			CHC1745T																					ENST00000373674.3:c.516G>A	p.Lys172=	p.K172=	ENST00000373674	NM_153370.2	172	aaG/aaA	0	not done		synonymous	
TRANK1		inserm.fr	GRCh37	3	36934443	36934443	+	synonymous_variant	Silent	SNP	T	A	A			BCM711T																					ENST00000429976.2:c.453A>T	p.Arg151=	p.R151=	ENST00000429976		151	cgA/cgT	0	validated		synonymous	
C15orf41		inserm.fr	GRCh37	15	36936478	36936478	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000566621.1:c.102-1G>A		p.X34_splice	ENST00000566621	NM_001130010.1			0	not done		damaging	
NUP98		inserm.fr	GRCh37	11	3697514	3697514	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM337T																					ENST00000324932.7:c.5278C>T	p.Arg1760Ter	p.R1760*	ENST00000324932	NM_139132.3	1760	Cga/Tga	0	validated		damaging	
FGD2		inserm.fr	GRCh37	6	36976672	36976672	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000274963.8:c.131G>A	p.Arg44Lys	p.R44K	ENST00000274963	NM_173558.3	44	aGg/aAg	0	not done		benign	
VIT		inserm.fr	GRCh37	2	37000974	37000974	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000379242.3:c.720G>A	p.Arg240=	p.R240=	ENST00000379242	NM_053276.3	240	agG/agA	0	not done		synonymous	
NIPBL		inserm.fr	GRCh37	5	37003428	37003428	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000282516.8:c.3834G>A	p.Lys1278=	p.K1278=	ENST00000282516	NM_133433.3	1278	aaG/aaA	0	not done		synonymous	
ZNF260		inserm.fr	GRCh37	19	37006064	37006064	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2115T																					ENST00000523638.1:c.77C>T	p.Pro26Leu	p.P26L	ENST00000523638	NM_001166038.1	26	cCt/cTt	0	not done		benign	
MLH1		inserm.fr	GRCh37	3	37048541	37048541	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000231790.2:c.440G>A	p.Gly147Glu	p.G147E	ENST00000231790	NM_000249.3	147	gGg/gAg	0	not done		probablydamaging	
MLH1		inserm.fr	GRCh37	3	37067204	37067204	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC793T																					ENST00000231790.2:c.1115C>A	p.Ser372Tyr	p.S372Y	ENST00000231790	NM_000249.3	372	tCt/tAt	0	validated		possiblydamaging	
LASP1		inserm.fr	GRCh37	17	37074882	37074882	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1626T																					ENST00000318008.6:c.637T>A	p.Tyr213Asn	p.Y213N	ENST00000318008	NM_006148.3	213	Tac/Aac	0	not done		probablydamaging	
STRN		inserm.fr	GRCh37	2	37088288	37088288	+	synonymous_variant	Silent	SNP	G	A	A			CHC1725T																					ENST00000263918.4:c.1656C>T	p.Pro552=	p.P552=	ENST00000263918	NM_003162.3	552	ccC/ccT	0	not done		synonymous	
ZNF382		inserm.fr	GRCh37	19	37100915	37100915	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000292928.2:c.99G>A	p.Arg33=	p.R33=	ENST00000292928	NM_032825.4	33	agG/agA	0	not done		synonymous	
ZNF382		inserm.fr	GRCh37	19	37118380	37118380	+	synonymous_variant	Silent	SNP	G	A	A			CHC1747T																					ENST00000292928.2:c.1581G>A	p.Lys527=	p.K527=	ENST00000292928	NM_032825.4	527	aaG/aaA	0	not done		synonymous	
PAX9		inserm.fr	GRCh37	14	37132233	37132233	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM275T									Valid												ENST00000361487.6:c.136C>A	p.Leu46Ile	p.L46I	ENST00000361487		46	Cta/Ata	0	validated		probablydamaging	
LRRFIP2		inserm.fr	GRCh37	3	37136368	37136368	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC432T																					ENST00000421307.1:c.950C>T	p.Thr317Ile	p.T317I	ENST00000421307	NM_006309.2	317	aCc/aTc	0	not done		benign	
RALGAPB		inserm.fr	GRCh37	20	37179816	37179816	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC432T																					ENST00000262879.6:c.3112G>A	p.Val1038Met	p.V1038M	ENST00000262879		1038	Gtg/Atg	0	not done		probablydamaging	
MEIS2		inserm.fr	GRCh37	15	37187001	37187001	+	intron_variant	Intron	SNP	C	A	A			CHC1744T																					ENST00000561208.1:c.1147+351G>T		*383*	ENST00000561208				0	not done			
RALGAPB		inserm.fr	GRCh37	20	37187020	37187020	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1186T																					ENST00000262879.6:c.3455T>A	p.Leu1152Gln	p.L1152Q	ENST00000262879		1152	cTg/cAg	0	not done		probablydamaging	
HEATR5B		inserm.fr	GRCh37	2	37227855	37227855	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC609T																					ENST00000233099.5:c.5419G>T	p.Ala1807Ser	p.A1807S	ENST00000233099	NM_019024.1	1807	Gca/Tca	0	validated		possiblydamaging	
HEATR5B		inserm.fr	GRCh37	2	37234441	37234441	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1602T																					ENST00000233099.5:c.4529C>T	p.Ala1510Val	p.A1510V	ENST00000233099	NM_019024.1	1510	gCa/gTa	0	not done		possiblydamaging	
ZNF850		inserm.fr	GRCh37	19	37240158	37240158	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC059T																					ENST00000591344.1:c.1784G>T	p.Gly595Val	p.G595V	ENST00000591344	NM_001193552.1	595	gGa/gTa	0	validated			
KIAA1239		inserm.fr	GRCh37	4	37246810	37246810	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000309447.5:c.121G>A	p.Val41Ile	p.V41I	ENST00000309447	NM_001144990.1	41	Gtc/Atc	0	not done		probablydamaging	
ARHGAP40		inserm.fr	GRCh37	20	37263429	37263429	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000373345.4:c.790+1G>A		p.X264_splice	ENST00000373345	NM_001164431.1			0	not done		damaging	
PLXDC1		inserm.fr	GRCh37	17	37263728	37263728	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB167T																					ENST00000315392.4:c.643G>T	p.Asp215Tyr	p.D215Y	ENST00000315392	NM_020405.4	215	Gac/Tac	0	validated		probablydamaging	
GRIK3		inserm.fr	GRCh37	1	37271814	37271814	+	synonymous_variant	Silent	SNP	C	A	A			CHC2103T																					ENST00000373091.3:c.2205G>T	p.Ala735=	p.A735=	ENST00000373091	NM_000831.3	735	gcG/gcT	0	not done		synonymous	
GRIK3		inserm.fr	GRCh37	1	37291357	37291357	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1201T																					ENST00000373091.3:c.1601C>T	p.Pro534Leu	p.P534L	ENST00000373091	NM_000831.3	534	cCc/cTc	0	not done		probablydamaging	
PLXDC1		inserm.fr	GRCh37	17	37296083	37296083	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000315392.4:c.79C>T	p.His27Tyr	p.H27Y	ENST00000315392	NM_020405.4	27	Cac/Tac	0	validated		probablydamaging	
HEATR5B		inserm.fr	GRCh37	2	37302747	37302747	+	synonymous_variant	Silent	SNP	G	A	A			CHC1568T																					ENST00000233099.5:c.478C>T	p.Leu160=	p.L160=	ENST00000233099	NM_019024.1	160	Cta/Tta	0	not done		synonymous	
NUP155		inserm.fr	GRCh37	5	37302944	37302944	+	synonymous_variant	Silent	SNP	G	A	A			CHC1035T																					ENST00000231498.3:c.3384C>T	p.Ser1128=	p.S1128=	ENST00000231498	NM_153485.2	1128	tcC/tcT	0	validated		synonymous	
ZNF790		inserm.fr	GRCh37	19	37309915	37309915	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1566T																					ENST00000356725.4:c.1331A>T	p.His444Leu	p.H444L	ENST00000356725	NM_206894.3	444	cAc/cTc	0	not done		probablydamaging	
GRIK3		inserm.fr	GRCh37	1	37324826	37324826	+	synonymous_variant	Silent	SNP	G	A	A			CHC304T																					ENST00000373091.3:c.987C>T	p.Ala329=	p.A329=	ENST00000373091	NM_000831.3	329	gcC/gcT	0	validated		synonymous	
GRIK3		inserm.fr	GRCh37	1	37325587	37325587	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC218T																					ENST00000373091.3:c.818G>T	p.Arg273Leu	p.R273L	ENST00000373091	NM_000831.3	273	cGc/cTc	0	validated		possiblydamaging	
CACNB1		inserm.fr	GRCh37	17	37331603	37331603	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2110Tbis																					ENST00000394303.3:c.1640C>T	p.Ser547Phe	p.S547F	ENST00000394303	NM_000723.4	547	tCc/tTc	0	not done		probablydamaging	
RNF8		inserm.fr	GRCh37	6	37339335	37339335	+	synonymous_variant	Silent	SNP	C	A	A			BCB231T																					ENST00000373479.4:c.1023C>A	p.Ala341=	p.A341=	ENST00000373479	NM_003958.3	341	gcC/gcA	0	validated		synonymous	
CACNB1		inserm.fr	GRCh37	17	37342283	37342283	+	intron_variant	Intron	SNP	G	A	A			CHC320T									Valid												ENST00000394303.3:c.628+466C>T		*210*	ENST00000394303	NM_000723.4			0	validated		damaging	
GRIK3		inserm.fr	GRCh37	1	37346258	37346258	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373091.3:c.527C>T	p.Thr176Ile	p.T176I	ENST00000373091	NM_000831.3	176	aCc/aTc	0	not done		probablydamaging	
GRIK3		inserm.fr	GRCh37	1	37346454	37346454	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC703T																					ENST00000373091.3:c.331G>T	p.Gly111Cys	p.G111C	ENST00000373091	NM_000831.3	111	Ggc/Tgc	0	validated		probablydamaging	
SLC32A1		inserm.fr	GRCh37	20	37353664	37353664	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000217420.1:c.297G>A	p.Lys99=	p.K99=	ENST00000217420	NM_080552.2	99	aaG/aaA	0	not done		synonymous	
TEX33		inserm.fr	GRCh37	22	37387632	37387632	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1052T																					ENST00000405091.2:c.635G>T	p.Gly212Val	p.G212V	ENST00000405091		212	gGg/gTg	0	validated		probablydamaging	
TST		inserm.fr	GRCh37	22	37407093	37407093	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC432T																					ENST00000403892.3:c.869C>T	p.Ser290Phe	p.S290F	ENST00000403892	NM_001270483.1	290	tCc/tTc	0	not done		probablydamaging	
SULT6B1		inserm.fr	GRCh37	2	37410583	37410583	+	synonymous_variant	Silent	SNP	G	A	A			BCM689T																					ENST00000260637.3:c.273C>T	p.Phe91=	p.F91=	ENST00000260637	NM_001032377.1	91	ttC/ttT	0	validated		synonymous	
GRHPR		inserm.fr	GRCh37	9	37428545	37428545	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000318158.6:c.469G>A	p.Gly157Ser	p.G157S	ENST00000318158	NM_012203.1	157	Ggc/Agc	0	validated		probablydamaging	
GRHPR		inserm.fr	GRCh37	9	37429730	37429730	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	A	A			CHC794T									Valid												ENST00000318158.6:c.495C>A	p.Gly165=	p.G165=	ENST00000318158	NM_012203.1	165	ggC/ggA	0	validated		possiblydamaging	
THEG		inserm.fr	GRCh37	19	374395	374395	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000342640.4:c.335C>T	p.Pro112Leu	p.P112L	ENST00000342640	NM_016585.4	112	cCc/cTc	0	not done		probablydamaging	
ANKRD30A		inserm.fr	GRCh37	10	37440998	37440998	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1602T																					ENST00000361713.1:c.1488C>A	p.Phe496Leu	p.F496L	ENST00000361713	NM_052997.2	496	ttC/ttA	0	not done		possiblydamaging	
ZNF568		inserm.fr	GRCh37	19	37441358	37441358	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1738T																					ENST00000333987.7:c.1303G>A	p.Val435Ile	p.V435I	ENST00000333987	NM_001204835.1	435	Gta/Ata	0	not done		possiblydamaging	
ZNF568		inserm.fr	GRCh37	19	37441791	37441791	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000333987.7:c.1736G>A	p.Ser579Asn	p.S579N	ENST00000333987	NM_001204835.1	579	aGt/aAt	0	not done		possiblydamaging	
ZNF568		inserm.fr	GRCh37	19	37441967	37441967	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1731T																					ENST00000333987.7:c.1912G>A	p.Gly638Ser	p.G638S	ENST00000333987	NM_001204835.1	638	Ggt/Agt	0	not done		probablydamaging	
KIAA1239		inserm.fr	GRCh37	4	37445013	37445013	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1738T																					ENST00000309447.5:c.1403T>A	p.Leu468Gln	p.L468Q	ENST00000309447	NM_001144990.1	468	cTa/cAa	0	not done		benign	
KCTD17		inserm.fr	GRCh37	22	37447855	37447855	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1725T																					ENST00000402077.3:c.76G>A	p.Ala26Thr	p.A26T	ENST00000402077	NM_024681.2	26	Gca/Aca	0	validated		benign	
KCTD17		inserm.fr	GRCh37	22	37449213	37449213	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000402077.3:c.284G>A	p.Gly95Asp	p.G95D	ENST00000402077	NM_024681.2	95	gGc/gAc	0	not done		probablydamaging	
KCTD17		inserm.fr	GRCh37	22	37452376	37452376	+	synonymous_variant	Silent	SNP	C	A	A			CHC1201T																					ENST00000402077.3:c.336C>A	p.Ala112=	p.A112=	ENST00000402077	NM_024681.2	112	gcC/gcA	0	not done		synonymous	
RP11-150O12.3		inserm.fr	GRCh37	8	37456004	37456004	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000519691.1:n.1373C>T		*458*	ENST00000519691				0	not done		synonymous	
ZNF568		inserm.fr	GRCh37	19	37487344	37487344	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000433993.1:c.355G>A	p.Gly119Ser	p.G119S	ENST00000433993		119	Ggt/Agt	0	not done			
ITGA9		inserm.fr	GRCh37	3	37494012	37494012	+	synonymous_variant	Silent	SNP	C	A	A			CHC1035T																					ENST00000264741.5:c.147C>A	p.Gly49=	p.G49=	ENST00000264741	NM_002207.2	49	ggC/ggA	0	validated		synonymous	
ANKRD30A		inserm.fr	GRCh37	10	37508771	37508771	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1732T																					ENST00000361713.1:c.3963T>A	p.Asn1321Lys	p.N1321K	ENST00000361713	NM_052997.2	1321	aaT/aaA	0	not done		probablydamaging	
ITGA9		inserm.fr	GRCh37	3	37514910	37514910	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000264741.5:c.379G>A	p.Val127Met	p.V127M	ENST00000264741	NM_002207.2	127	Gtg/Atg	0	not done		probablydamaging	
IL2RB		inserm.fr	GRCh37	22	37524507	37524507	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000216223.5:c.1285C>T	p.Leu429Phe	p.L429F	ENST00000216223	NM_000878.3	429	Ctc/Ttc	0	not done		probablydamaging	
DIP2C		inserm.fr	GRCh37	10	375390	375390	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1743T																					ENST00000280886.6:c.3736C>T	p.Gln1246Ter	p.Q1246*	ENST00000280886	NM_014974.2	1246	Caa/Taa	0	not done		damaging	
DIP2C		inserm.fr	GRCh37	10	375391	375391	+	synonymous_variant	Silent	SNP	C	A	A			CHC1743T																					ENST00000280886.6:c.3735G>T	p.Ser1245=	p.S1245=	ENST00000280886	NM_014974.2	1245	tcG/tcT	0	not done		synonymous	
MED1		inserm.fr	GRCh37	17	37564184	37564184	+	synonymous_variant	Silent	SNP	G	A	A			BCM683T																					ENST00000300651.6:c.4290C>T	p.Asn1430=	p.N1430=	ENST00000300651	NM_004774.3	1430	aaC/aaT	0	validated		synonymous	
NUP98		inserm.fr	GRCh37	11	3756520	3756520	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC307T									Valid												ENST00000324932.7:c.1443G>T	p.Gln481His	p.Q481H	ENST00000324932	NM_139132.3	481	caG/caT	0	validated		probablydamaging	
MED1		inserm.fr	GRCh37	17	37566001	37566001	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1744T																					ENST00000300651.6:c.2473G>T	p.Val825Phe	p.V825F	ENST00000300651	NM_004774.3	825	Gtc/Ttc	0	not done		possiblydamaging	
QPCT		inserm.fr	GRCh37	2	37580058	37580058	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000338415.3:c.247G>A	p.Gly83Arg	p.G83R	ENST00000338415	NM_012413.3	83	Gga/Aga	0	not done		probablydamaging	
DOPEY2		inserm.fr	GRCh37	21	37586844	37586844	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000399151.3:c.1119G>A	p.Lys373=	p.K373=	ENST00000399151	NM_005128.2	373	aaG/aaA	0	not done		synonymous	
SPEF1		inserm.fr	GRCh37	20	3759598	3759598	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1736T																					ENST00000379756.3:c.418G>T	p.Gly140Cys	p.G140C	ENST00000379756	NM_015417.4	140	Ggt/Tgt	0	not done		probablydamaging	
THEG		inserm.fr	GRCh37	19	375959	375959	+	synonymous_variant	Silent	SNP	G	A	A			CHC1741T																					ENST00000342640.4:c.12C>T	p.Ser4=	p.S4=	ENST00000342640	NM_016585.4	4	agC/agT	0	not done		synonymous	
MDGA1		inserm.fr	GRCh37	6	37606390	37606390	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1053T																					ENST00000434837.3:c.2590G>T	p.Ala864Ser	p.A864S	ENST00000434837	NM_153487.3	864	Gcc/Tcc	0	validated		possiblydamaging	
ERLIN2		inserm.fr	GRCh37	8	37609183	37609183	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000276461.5:c.689G>A	p.Gly230Glu	p.G230E	ENST00000276461	NM_007175.6	230	gGg/gAg	0	not done		benign	
DOPEY2		inserm.fr	GRCh37	21	37609653	37609653	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000399151.3:c.2716G>A	p.Ala906Thr	p.A906T	ENST00000399151	NM_005128.2	906	Gcc/Acc	0	not done		probablydamaging	
MDGA1		inserm.fr	GRCh37	6	37611681	37611681	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000434837.3:c.2440C>T	p.Leu814=	p.L814=	ENST00000434837	NM_153487.3	814	Ctg/Ttg	0	not done		synonymous	
MDGA1		inserm.fr	GRCh37	6	37612351	37612351	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000434837.3:c.2323C>T	p.Arg775Trp	p.R775W	ENST00000434837	NM_153487.3	775	Cgg/Tgg	0	not done		possiblydamaging	
DOPEY2		inserm.fr	GRCh37	21	37618792	37618792	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000399151.3:c.4514G>A	p.Arg1505Lys	p.R1505K	ENST00000399151	NM_005128.2	1505	aGg/aAg	0	not done		benign	
DHX35		inserm.fr	GRCh37	20	37621059	37621059	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000252011.3:c.573G>A	p.Leu191=	p.L191=	ENST00000252011	NM_021931.3	191	ttG/ttA	0	not done		synonymous	
RAC2		inserm.fr	GRCh37	22	37622821	37622821	+	synonymous_variant	Silent	SNP	G	A	A			CHC2098T																					ENST00000249071.6:c.471C>T	p.Cys157=	p.C157=	ENST00000249071	NM_002872.4	157	tgC/tgT	0	not done		synonymous	
PROSC		inserm.fr	GRCh37	8	37630320	37630320	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000328195.3:c.367G>A	p.Ala123Thr	p.A123T	ENST00000328195	NM_007198.3	123	Gca/Aca	0	not done		probablydamaging	
RELL1		inserm.fr	GRCh37	4	37633048	37633048	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1739T																					ENST00000454158.2:c.778G>T	p.Ala260Ser	p.A260S	ENST00000454158	NM_001085400.1	260	Gca/Tca	0	not done		benign	
PROSC		inserm.fr	GRCh37	8	37633503	37633503	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC736T									Valid												ENST00000328195.3:c.665G>A	p.Ser222Asn	p.S222N	ENST00000328195	NM_007198.3	222	aGc/aAc	0	validated		probablydamaging	
CYBB		inserm.fr	GRCh37	X	37639355	37639355	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000378588.4:c.25G>A	p.Gly9Arg	p.G9R	ENST00000378588	NM_000397.3	9	Ggg/Agg	0	not done		probablydamaging	
CDK12		inserm.fr	GRCh37	17	37650779	37650779	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC796T																					ENST00000447079.4:c.2251G>A	p.Glu751Lys	p.E751K	ENST00000447079	NM_015083.1	751	Gaa/Aaa	0	validated		probablydamaging	
DHX35		inserm.fr	GRCh37	20	37652345	37652345	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1600T																					ENST00000252011.3:c.1606C>A	p.Arg536Ser	p.R536S	ENST00000252011	NM_021931.3	536	Cgt/Agt	0	not done		probablydamaging	
CENPB		inserm.fr	GRCh37	20	3766760	3766760	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM397T																					ENST00000379751.4:c.371A>T	p.Asp124Val	p.D124V	ENST00000379751	NM_001810.5	124	gAc/gTc	0	validated		probablydamaging	
ITGA9		inserm.fr	GRCh37	3	37670721	37670721	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM275T																					ENST00000264741.5:c.1733C>A	p.Ala578Asp	p.A578D	ENST00000264741	NM_002207.2	578	gCc/gAc	0	validated		benign	
ZNF585B		inserm.fr	GRCh37	19	37678099	37678099	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC909T																					ENST00000532828.2:c.340A>T	p.Lys114Ter	p.K114*	ENST00000532828	NM_152279.3	114	Aaa/Taa	0	not done		damaging	
ADRA2C		inserm.fr	GRCh37	4	3768495	3768495	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000330055.5:c.162G>A	p.Leu54=	p.L54=	ENST00000330055	NM_000683.3	54	ctG/ctA	0	not done		synonymous	
GPR124		inserm.fr	GRCh37	8	37686807	37686807	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000412232.2:c.439C>A	p.Leu147Ile	p.L147I	ENST00000412232	NM_032777.9	147	Ctc/Atc	0	not done		probablydamaging	
ADRA2C		inserm.fr	GRCh37	4	3768802	3768802	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC909T																					ENST00000330055.5:c.469G>A	p.Val157Ile	p.V157I	ENST00000330055	NM_000683.3	157	Gtc/Atc	0	not done		probablydamaging	
CYTH4		inserm.fr	GRCh37	22	37693626	37693626	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM321T																					ENST00000248901.6:c.256C>A	p.His86Asn	p.H86N	ENST00000248901	NM_013385.3	86	Cac/Aac	0	validated		benign	
GPR124		inserm.fr	GRCh37	8	37697133	37697133	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000412232.2:c.2504G>A	p.Cys835Tyr	p.C835Y	ENST00000412232	NM_032777.9	835	tGc/tAc	0	not done		probablydamaging	
DOCK8		inserm.fr	GRCh37	9	377032	377032	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1594T																					ENST00000453981.1:c.2261C>A	p.Thr754Asn	p.T754N	ENST00000453981		754	aCc/aAc	0	not done		benign	
FRMPD1		inserm.fr	GRCh37	9	37731012	37731012	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000539465.1:c.770G>A	p.Arg257His	p.R257H	ENST00000539465		257	cGc/cAc	0	validated		probablydamaging	
ZNF383		inserm.fr	GRCh37	19	37733917	37733917	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1028T																					ENST00000589413.1:c.779G>A	p.Gly260Glu	p.G260E	ENST00000589413		260	gGg/gAg	0	not done		probablydamaging	
FRMPD1		inserm.fr	GRCh37	9	37740561	37740561	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2200T																					ENST00000539465.1:c.2036C>A	p.Ala679Asp	p.A679D	ENST00000539465		679	gCt/gAt	0	not done		benign	
MORC3		inserm.fr	GRCh37	21	37741476	37741476	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1201T																					ENST00000400485.1:c.1810G>A	p.Glu604Lys	p.E604K	ENST00000400485	NM_015358.2	604	Gag/Aag	0	not done		probablydamaging	
FRMPD1		inserm.fr	GRCh37	9	37745611	37745611	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000539465.1:c.3582G>A	p.Gln1194=	p.Q1194=	ENST00000539465		1194	caG/caA	0	not done		synonymous	
CHAF1B		inserm.fr	GRCh37	21	37758474	37758474	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000314103.5:c.40G>A	p.Glu14Lys	p.E14K	ENST00000314103	NM_005441.2	14	Gag/Aag	0	not done		probablydamaging	
NEUROD2		inserm.fr	GRCh37	17	37762841	37762841	+	synonymous_variant	Silent	SNP	G	A	A			CHC1753T																					ENST00000302584.4:c.12C>T	p.Arg4=	p.R4=	ENST00000302584	NM_006160.3	4	cgC/cgT	0	not done		synonymous	
ELFN2		inserm.fr	GRCh37	22	37770194	37770194	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1601T																					ENST00000402918.2:c.1381G>T	p.Glu461Ter	p.E461*	ENST00000402918	NM_052906.3	461	Gag/Tag	0	not done		damaging	
GPR141		inserm.fr	GRCh37	7	37780852	37780852	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2141T																					ENST00000447769.1:c.857G>A	p.Gly286Glu	p.G286E	ENST00000447769		286	gGg/gAg	0	not done		probablydamaging	
CHAF1B		inserm.fr	GRCh37	21	37781128	37781128	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC155T																					ENST00000314103.5:c.827G>A	p.Arg276Lys	p.R276K	ENST00000314103	NM_005441.2	276	aGg/aAg	0	validated		benign	
CREBBP		inserm.fr	GRCh37	16	3779036	3779036	+	synonymous_variant	Silent	SNP	T	A	A			CHC917T																					ENST00000262367.5:c.6012A>T	p.Arg2004=	p.R2004=	ENST00000262367	NM_004380.2	2004	cgA/cgT	0	validated		synonymous	
CDC25B		inserm.fr	GRCh37	20	3781414	3781414	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1085T																					ENST00000245960.5:c.484G>A	p.Val162Met	p.V162M	ENST00000245960	NM_021873.2	162	Gtg/Atg	0	validated		probablydamaging	
ADRB3		inserm.fr	GRCh37	8	37823568	37823568	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000345060.3:c.420C>T	p.Thr140=	p.T140=	ENST00000345060	NM_000025.2	140	acC/acT	0	not done		synonymous	
MATK		inserm.fr	GRCh37	19	3783978	3783978	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000395045.2:c.419C>T	p.Pro140Leu	p.P140L	ENST00000395045	NM_002378.3	140	cCc/cTc	0	not done		possiblydamaging	
CDC25B		inserm.fr	GRCh37	20	3784081	3784081	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1534T																					ENST00000245960.5:c.1387G>A	p.Ala463Thr	p.A463T	ENST00000245960	NM_021873.2	463	Gcc/Acc	0	validated		probablydamaging	
DFFB		inserm.fr	GRCh37	1	3786305	3786305	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000378209.3:c.647G>A	p.Arg216His	p.R216H	ENST00000378209	NM_004402.2	216	cGc/cAc	0	not done		probablydamaging	
ERBB2		inserm.fr	GRCh37	17	37879655	37879655	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC884T																					ENST00000269571.5:c.2030G>A	p.Arg677Gln	p.R677Q	ENST00000269571		677	cGa/cAa	0	validated		probablydamaging	
CARD10		inserm.fr	GRCh37	22	37893130	37893130	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2099T																					ENST00000403299.1:c.1843G>T	p.Asp615Tyr	p.D615Y	ENST00000403299		615	Gac/Tac	0	not done		probablydamaging	
GRB7		inserm.fr	GRCh37	17	37899482	37899482	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000445327.2:c.582G>A	p.Trp194Ter	p.W194*	ENST00000445327	NM_001242442.1	194	tgG/tgA	0	not done		damaging	
EIF4EBP1		inserm.fr	GRCh37	8	37914613	37914613	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC898T																					ENST00000338825.4:c.160T>A	p.Tyr54Asn	p.Y54N	ENST00000338825	NM_004095.3	54	Tat/Aat	0	not done		probablydamaging	
IKZF3		inserm.fr	GRCh37	17	37922201	37922201	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1052T									Valid												ENST00000346872.3:c.1372C>T	p.Arg458Cys	p.R458C	ENST00000346872	NM_012481.4	458	Cgc/Tgc	0	validated		probablydamaging	
MEAF6		inserm.fr	GRCh37	1	37980318	37980318	+	synonymous_variant	Silent	SNP	C	A	A			CHC1154T																					ENST00000373075.2:c.30G>T	p.Pro10=	p.P10=	ENST00000373075	NM_022756.5	10	ccG/ccT	0	not done		synonymous	
SYTL5		inserm.fr	GRCh37	X	37984697	37984697	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000456733.2:c.2054G>A	p.Trp685Ter	p.W685*	ENST00000456733	NM_001163334.1	685	tGg/tAg	0	not done		damaging	
ASH2L		inserm.fr	GRCh37	8	37991029	37991029	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000343823.6:c.1585G>A	p.Ala529Thr	p.A529T	ENST00000343823	NM_004674.4	529	Gca/Aca	0	not done		benign	
STAR		inserm.fr	GRCh37	8	38003573	38003573	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000276449.4:c.558C>T	p.Ser186=	p.S186=	ENST00000276449	NM_000349.2	186	agC/agT	0	validated		synonymous	
SRPX		inserm.fr	GRCh37	X	38024122	38024122	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000378533.3:c.553C>T	p.Pro185Ser	p.P185S	ENST00000378533	NM_006307.4	185	Cca/Tca	0	not done		probablydamaging	
GGA1		inserm.fr	GRCh37	22	38026101	38026101	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000343632.4:c.1255G>A	p.Gly419Ser	p.G419S	ENST00000343632	NM_013365.4	419	Ggt/Agt	0	validated		benign	
ZPBP2		inserm.fr	GRCh37	17	38027065	38027065	+	synonymous_variant	Silent	SNP	G	A	A			CHC1626T																					ENST00000348931.4:c.237G>A	p.Thr79=	p.T79=	ENST00000348931	NM_199321.2	79	acG/acA	0	not done		synonymous	
ZNF793		inserm.fr	GRCh37	19	38028489	38028489	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM567T																					ENST00000445217.1:c.929C>A	p.Pro310His	p.P310H	ENST00000445217		310	cCc/cAc	0	validated		probablydamaging	
ZPBP2		inserm.fr	GRCh37	17	38033023	38033023	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM545T																					ENST00000348931.4:c.978C>A	p.Cys326Ter	p.C326*	ENST00000348931	NM_199321.2	326	tgC/tgA	0	validated		damaging	
GSDMB		inserm.fr	GRCh37	17	38061145	38061145	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000418519.1:c.1171G>T	p.Ala391Ser	p.A391S	ENST00000418519	NM_001165958.1	391	Gca/Tca	0	not done		probablydamaging	
SIM2		inserm.fr	GRCh37	21	38081500	38081500	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC884T																					ENST00000290399.6:c.208G>A	p.Ala70Thr	p.A70T	ENST00000290399	NM_005069.3	70	Gcc/Acc	0	validated		benign	
LRRC3C		inserm.fr	GRCh37	17	38100714	38100714	+	synonymous_variant	Silent	SNP	C	A	A			CHC2112T																					ENST00000377924.4:c.555C>A	p.Ile185=	p.I185=	ENST00000377924	NM_001195545.1	185	atC/atA	0	not done		synonymous	
HLCS		inserm.fr	GRCh37	21	38126621	38126621	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1746T																					ENST00000399120.1:c.2107G>T	p.Glu703Ter	p.E703*	ENST00000399120	NM_001242784.1	703	Gag/Tag	0	not done		damaging	
ZNF248		inserm.fr	GRCh37	10	38127033	38127033	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM711T																					ENST00000395867.3:c.22G>T	p.Val8Leu	p.V8L	ENST00000395867	NM_001267606.1	8	Gtg/Ttg	0	validated		probablydamaging	
DLEC1		inserm.fr	GRCh37	3	38136508	38136508	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000308059.6:c.2058G>A	p.Gly686=	p.G686=	ENST00000308059		686	ggG/ggA	0	not done		synonymous	
PSMD3		inserm.fr	GRCh37	17	38151735	38151735	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000264639.4:c.1275G>A	p.Lys425=	p.K425=	ENST00000264639	NM_002809.3	425	aaG/aaA	0	not done		synonymous	
POSTN		inserm.fr	GRCh37	13	38151921	38151921	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000379747.4:c.1977C>T	p.Ser659=	p.S659=	ENST00000379747	NM_006475.2	659	agC/agT	0	not done		synonymous	
RPGR		inserm.fr	GRCh37	X	38156547	38156547	+	synonymous_variant	Silent	SNP	T	A	A			CHC361TA																					ENST00000378505.2:c.1404A>T	p.Pro468=	p.P468=	ENST00000378505	NM_001034853.1	468	ccA/ccT	0	validated		synonymous	
CDCA8		inserm.fr	GRCh37	1	38158659	38158659	+	synonymous_variant	Silent	SNP	G	A	A			CHC2115T																					ENST00000373055.1:c.177G>A	p.Leu59=	p.L59=	ENST00000373055	NM_001256875.1	59	ctG/ctA	0	not done		synonymous	
POSTN		inserm.fr	GRCh37	13	38158915	38158915	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1624T																					ENST00000379747.4:c.1046A>T	p.Lys349Met	p.K349M	ENST00000379747	NM_006475.2	349	aAg/aTg	0	validated		probablydamaging	
BTBD9		inserm.fr	GRCh37	6	38160362	38160362	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1152T																					ENST00000481247.1:c.1574C>T	p.Ser525Leu	p.S525L	ENST00000481247	NM_052893.1	525	tCa/tTa	0	not done		possiblydamaging	
RPGR		inserm.fr	GRCh37	X	38178108	38178108	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000378505.2:c.443G>T	p.Gly148Val	p.G148V	ENST00000378505	NM_001034853.1	148	gGa/gTa	0	not done		probablydamaging	
MED24		inserm.fr	GRCh37	17	38178281	38178281	+	synonymous_variant	Silent	SNP	G	A	A			BCM501T																					ENST00000394128.2:c.2550C>T	p.Asp850=	p.D850=	ENST00000394128	NM_014815.3	850	gaC/gaT	0	validated		synonymous	
ZNF607		inserm.fr	GRCh37	19	38189497	38189497	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM275T									Valid												ENST00000355202.4:c.1535A>T	p.Lys512Met	p.K512M	ENST00000355202	NM_032689.4	512	aAg/aTg	0	validated		probablydamaging	
CREBBP		inserm.fr	GRCh37	16	3819258	3819258	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC121T																					ENST00000262367.5:c.2977C>T	p.Pro993Ser	p.P993S	ENST00000262367	NM_004380.2	993	Cct/Tct	0	validated		benign	
GCAT		inserm.fr	GRCh37	22	38206096	38206096	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000323205.6:c.337G>A	p.Ala113Thr	p.A113T	ENST00000323205	NM_001171690.1	113	Gca/Aca	0	not done		possiblydamaging	
TRPC4		inserm.fr	GRCh37	13	38211043	38211043	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1053T																					ENST00000379681.3:c.2946G>T	p.Leu982Phe	p.L982F	ENST00000379681	NM_001135955.1	982	ttG/ttT	0	validated		probablydamaging	
TRPC4		inserm.fr	GRCh37	13	38211379	38211379	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000379681.3:c.2610C>T	p.Phe870=	p.F870=	ENST00000379681	NM_001135955.1	870	ttC/ttT	0	not done		synonymous	
EPHA10		inserm.fr	GRCh37	1	38219939	38219939	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000373048.4:c.954C>T	p.Cys318=	p.C318=	ENST00000373048	NM_001099439.1	318	tgC/tgT	0	not done		synonymous	
EPHA10		inserm.fr	GRCh37	1	38227519	38227519	+	synonymous_variant	Silent	SNP	G	A	A			BCB325T																					ENST00000373048.4:c.408C>T	p.Asp136=	p.D136=	ENST00000373048	NM_001099439.1	136	gaC/gaT	0	validated		synonymous	
ZNF25		inserm.fr	GRCh37	10	38242681	38242681	+	synonymous_variant	Silent	SNP	G	A	A			CHC1616T																					ENST00000302609.7:c.244C>T	p.Leu82=	p.L82=	ENST00000302609	NM_145011.2	82	Cta/Tta	0	not done		synonymous	
MANEAL		inserm.fr	GRCh37	1	38260205	38260205	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000373045.6:c.351G>A	p.Arg117=	p.R117=	ENST00000373045	NM_001113482.1	117	cgG/cgA	0	not done		synonymous	
MSL1		inserm.fr	GRCh37	17	38290547	38290547	+	synonymous_variant	Silent	SNP	C	A	A			CHC433T																					ENST00000579565.1:c.981C>A	p.Pro327=	p.P327=	ENST00000579565		327	ccC/ccA	0	validated		synonymous	
CYP1B1		inserm.fr	GRCh37	2	38301839	38301839	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000260630.3:c.693C>T	p.Phe231=	p.F231=	ENST00000260630	NM_000104.3	231	ttC/ttT	0	validated		synonymous	
HLCS		inserm.fr	GRCh37	21	38302563	38302563	+	synonymous_variant	Silent	SNP	C	A	A			CHC1603T																					ENST00000399120.1:c.1167G>T	p.Leu389=	p.L389=	ENST00000399120	NM_001242784.1	389	ctG/ctT	0	not done		synonymous	
TTC6		inserm.fr	GRCh37	14	38311373	38311373	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000553443.1:c.5538G>A	p.Lys1846=	p.K1846=	ENST00000553443		1846	aaG/aaA	0	not done		synonymous	
CREBBP		inserm.fr	GRCh37	16	3831261	3831261	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2200T																					ENST00000262367.5:c.1620G>T	p.Gln540His	p.Q540H	ENST00000262367	NM_004380.2	540	caG/caT	0	not done		probablydamaging	
SLC22A13		inserm.fr	GRCh37	3	38315786	38315786	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000311856.4:c.402G>A	p.Lys134=	p.K134=	ENST00000311856	NM_004256.3	134	aaG/aaA	0	not done		synonymous	
ZFR2		inserm.fr	GRCh37	19	3831689	3831689	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000262961.4:c.567C>T	p.Pro189=	p.P189=	ENST00000262961	NM_015174.1	189	ccC/ccT	0	not done		synonymous	
POLR2F		inserm.fr	GRCh37	22	38368250	38368250	+	downstream_gene_variant	3'Flank	SNP	G	A	A			CHC892T																								ENST00000396884	NM_006941.3			0	not done			
WDR87		inserm.fr	GRCh37	19	38375694	38375694	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000303868.5:c.8500C>T	p.Arg2834Cys	p.R2834C	ENST00000303868	NM_031951.3	2834	Cgc/Tgc	0	validated		benign	
WDR87		inserm.fr	GRCh37	19	38376704	38376704	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000303868.5:c.7490C>T	p.Pro2497Leu	p.P2497L	ENST00000303868	NM_031951.3	2497	cCt/cTt	0	not done		benign	
WDR87		inserm.fr	GRCh37	19	38377356	38377356	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM265T																					ENST00000303868.5:c.6838G>T	p.Val2280Leu	p.V2280L	ENST00000303868	NM_031951.3	2280	Gtg/Ttg	0	validated		benign	
WDR87		inserm.fr	GRCh37	19	38380667	38380667	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1209T																					ENST00000303868.5:c.3527G>T	p.Arg1176Leu	p.R1176L	ENST00000303868	NM_031951.3	1176	cGt/cTt	0	not done		probablydamaging	
WDR87		inserm.fr	GRCh37	19	38384308	38384308	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1720T																					ENST00000303868.5:c.1918C>T	p.Pro640Ser	p.P640S	ENST00000303868	NM_031951.3	640	Ccc/Tcc	0	not done		possiblydamaging	
INPP5B		inserm.fr	GRCh37	1	38397638	38397638	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1055T																					ENST00000373024.3:c.479G>T	p.Arg160Leu	p.R160L	ENST00000373024		160	cGc/cTc	0	validated		benign	
POLR2F		inserm.fr	GRCh37	22	38421648	38421648	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000405557.1:c.356G>A	p.Gly119Asp	p.G119D	ENST00000405557		119	gGc/gAc	0	not done			
ATP2A3		inserm.fr	GRCh37	17	3844878	3844878	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359983.3:c.1616C>T	p.Pro539Leu	p.P539L	ENST00000359983		539	cCc/cTc	0	not done		benign	
SF3A3		inserm.fr	GRCh37	1	38453318	38453318	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1751T																					ENST00000373019.4:c.230G>T	p.Gly77Val	p.G77V	ENST00000373019	NM_006802.2	77	gGa/gTa	0	not done		probablydamaging	
TTC3		inserm.fr	GRCh37	21	38460132	38460132	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000399017.2:c.145-1G>A		p.X49_splice	ENST00000399017	NM_003316.3			0	not done		damaging	
CHL1		inserm.fr	GRCh37	3	384706	384706	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM545T																					ENST00000256509.2:c.719G>A	p.Gly240Asp	p.G240D	ENST00000256509	NM_001253388.1	240	gGt/gAt	0	validated		benign	
PICK1		inserm.fr	GRCh37	22	38471061	38471061	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000404072.3:c.1170G>A	p.Thr390=	p.T390=	ENST00000404072	NM_001039583.1	390	acG/acA	0	not done		synonymous	
BAIAP2L2		inserm.fr	GRCh37	22	38482406	38482406	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC432T																					ENST00000381669.3:c.1310C>T	p.Pro437Leu	p.P437L	ENST00000381669	NM_025045.4	437	cCg/cTg	0	not done		probablydamaging	
LIFR		inserm.fr	GRCh37	5	38506103	38506103	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1207T																					ENST00000263409.4:c.1195A>T	p.Met399Leu	p.M399L	ENST00000263409	NM_002310.5	399	Atg/Ttg	0	not done		benign	
FAM50B		inserm.fr	GRCh37	6	3850717	3850717	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB109T									Valid												ENST00000380274.1:c.672C>A	p.Phe224Leu	p.F224L	ENST00000380274		224	ttC/ttA	0	validated		probablydamaging	
ATP2A3		inserm.fr	GRCh37	17	3850752	3850752	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000359983.3:c.1028G>T	p.Gly343Val	p.G343V	ENST00000359983		343	gGc/gTc	0	not done		probablydamaging	
FAM50B		inserm.fr	GRCh37	6	3850929	3850929	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000380274.1:c.884G>A	p.Arg295His	p.R295H	ENST00000380274		295	cGc/cAc	0	not done		probablydamaging	
RARA		inserm.fr	GRCh37	17	38512268	38512268	+	synonymous_variant	Silent	SNP	G	A	A			CHC1736T																					ENST00000254066.5:c.1179G>A	p.Glu393=	p.E393=	ENST00000254066	NM_000964.3	393	gaG/gaA	0	validated		synonymous	
PLA2G6		inserm.fr	GRCh37	22	38524347	38524347	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM339T																					ENST00000332509.3:c.1277G>T	p.Gly426Val	p.G426V	ENST00000332509	NM_003560.2	426	gGc/gTc	0	validated		benign	
ATL2		inserm.fr	GRCh37	2	38525436	38525436	+	synonymous_variant	Silent	SNP	G	A	A			CHC1061T																					ENST00000378954.4:c.1482C>T	p.Phe494=	p.F494=	ENST00000378954	NM_001135673.1	494	ttC/ttT	0	validated		synonymous	
ATL2		inserm.fr	GRCh37	2	38525706	38525706	+	synonymous_variant	Silent	SNP	C	A	A			CHC2098T																					ENST00000378954.4:c.1212G>T	p.Gly404=	p.G404=	ENST00000378954	NM_001135673.1	404	ggG/ggT	0	not done		synonymous	
PLA2G6		inserm.fr	GRCh37	22	38531035	38531035	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000332509.3:c.854G>T	p.Arg285Leu	p.R285L	ENST00000332509	NM_003560.2	285	cGt/cTt	0	not done		benign	
PLA2G6		inserm.fr	GRCh37	22	38531076	38531076	+	synonymous_variant	Silent	SNP	G	A	A			CHC303T																					ENST00000332509.3:c.813C>T	p.Ile271=	p.I271=	ENST00000332509	NM_003560.2	271	atC/atT	0	validated		synonymous	
TSPAN7		inserm.fr	GRCh37	X	38533565	38533565	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000378482.2:c.436C>A	p.Arg146Ser	p.R146S	ENST00000378482	NM_004615.3	146	Cgc/Agc	0	not done		benign	
TTC3		inserm.fr	GRCh37	21	38537988	38537988	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000399017.2:c.3472G>A	p.Gly1158Arg	p.G1158R	ENST00000399017	NM_003316.3	1158	Gga/Aga	0	not done		benign	
PLA2G6		inserm.fr	GRCh37	22	38541632	38541632	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC434T									Valid												ENST00000332509.3:c.238G>T	p.Ala80Ser	p.A80S	ENST00000332509	NM_003560.2	80	Gcc/Tcc	0	validated		possiblydamaging	
ATP2A3		inserm.fr	GRCh37	17	3854941	3854941	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000359983.3:c.258C>T	p.Thr86=	p.T86=	ENST00000359983		86	acC/acT	0	validated		synonymous	
TOP2A		inserm.fr	GRCh37	17	38556243	38556243	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM339T																					ENST00000423485.1:c.3077G>T	p.Arg1026Ile	p.R1026I	ENST00000423485	NM_001067.3	1026	aGa/aTa	0	validated		probablydamaging	
BTBD9		inserm.fr	GRCh37	6	38560532	38560532	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1712T																					ENST00000481247.1:c.634C>T	p.His212Tyr	p.H212Y	ENST00000481247	NM_052893.1	212	Cac/Tac	0	not done		possiblydamaging	
TOP2A		inserm.fr	GRCh37	17	38562642	38562642	+	synonymous_variant	Silent	SNP	G	A	A			CHC2200T																					ENST00000423485.1:c.1947C>T	p.Ile649=	p.I649=	ENST00000423485	NM_001067.3	649	atC/atT	0	not done		synonymous	
SIPA1L3		inserm.fr	GRCh37	19	38572596	38572596	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000222345.6:c.391G>A	p.Ala131Thr	p.A131T	ENST00000222345	NM_015073.1	131	Gct/Act	0	not done		benign	
SIPA1L3		inserm.fr	GRCh37	19	38573369	38573369	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000222345.6:c.1164G>A	p.Arg388=	p.R388=	ENST00000222345	NM_015073.1	388	cgG/cgA	0	not done		synonymous	
SCN5A		inserm.fr	GRCh37	3	38592757	38592757	+	synonymous_variant	Silent	SNP	C	A	A			CHC1185T																					ENST00000413689.1:c.5106G>T	p.Leu1702=	p.L1702=	ENST00000413689	NM_001160160.1	1702	ctG/ctT	0	not done		synonymous	
ANKRD18A		inserm.fr	GRCh37	9	38596386	38596386	+	synonymous_variant	Silent	SNP	G	A	A			BCM711T																					ENST00000399703.5:c.951C>T	p.Tyr317=	p.Y317=	ENST00000399703	NM_147195.2	317	taC/taT	0	validated		synonymous	
IGFBP4		inserm.fr	GRCh37	17	38600122	38600122	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000269593.4:c.135G>A	p.Glu45=	p.E45=	ENST00000269593	NM_001552.2	45	gaG/gaA	0	not done		synonymous	
SCN5A		inserm.fr	GRCh37	3	38616933	38616933	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2127T																					ENST00000413689.1:c.3521G>T	p.Arg1174Leu	p.R1174L	ENST00000413689	NM_001160160.1	1174	cGg/cTg	0	not done		probablydamaging	
SCN5A		inserm.fr	GRCh37	3	38620961	38620961	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000413689.1:c.3254G>T	p.Gly1085Val	p.G1085V	ENST00000413689	NM_001160160.1	1085	gGc/gTc	0	not done		benign	
SCN5A		inserm.fr	GRCh37	3	38622859	38622859	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000413689.1:c.2791C>T	p.Leu931=	p.L931=	ENST00000413689	NM_001160160.1	931	Ctg/Ttg	0	not done		synonymous	
TNS4		inserm.fr	GRCh37	17	38638454	38638454	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000254051.6:c.1599C>T	p.Ser533=	p.S533=	ENST00000254051	NM_032865.5	533	agC/agT	0	not done		synonymous	
SPRED1		inserm.fr	GRCh37	15	38643576	38643576	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1725T																					ENST00000299084.4:c.1046G>A	p.Arg349Lys	p.R349K	ENST00000299084	NM_152594.2	349	aGg/aAg	0	not done		probablydamaging	
TNS4		inserm.fr	GRCh37	17	38645112	38645112	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000254051.6:c.549C>T	p.Gly183=	p.G183=	ENST00000254051	NM_032865.5	183	ggC/ggT	0	not done		synonymous	
SCN5A		inserm.fr	GRCh37	3	38645395	38645395	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000413689.1:c.1698C>T	p.Pro566=	p.P566=	ENST00000413689	NM_001160160.1	566	ccC/ccT	0	not done		synonymous	
TNS4		inserm.fr	GRCh37	17	38652569	38652569	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000254051.6:c.109C>T	p.Pro37Ser	p.P37S	ENST00000254051	NM_032865.5	37	Cca/Tca	0	not done		probablydamaging	
SIPA1L3		inserm.fr	GRCh37	19	38655456	38655456	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000222345.6:c.4118G>A	p.Ser1373Asn	p.S1373N	ENST00000222345	NM_015073.1	1373	aGc/aAc	0	not done		benign	
SCN5A		inserm.fr	GRCh37	3	38674594	38674594	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1745T																					ENST00000413689.1:c.205G>T	p.Gly69Cys	p.G69C	ENST00000413689	NM_001160160.1	69	Ggc/Tgc	0	not done		probablydamaging	
CSNK1E		inserm.fr	GRCh37	22	38690146	38690146	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC304T									Valid												ENST00000396832.1:c.1187G>T	p.Arg396Leu	p.R396L	ENST00000396832	NM_152221.2	396	cGg/cTg	0	validated		probablydamaging	
DNAH8		inserm.fr	GRCh37	6	38702383	38702383	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1600T																					ENST00000359357.3:c.93T>A	p.Asn31Lys	p.N31K	ENST00000359357		31	aaT/aaA	0	not done		benign	
ALG10B		inserm.fr	GRCh37	12	38712091	38712091	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000308742.4:c.200G>A	p.Gly67Asp	p.G67D	ENST00000308742	NM_001013620.3	67	gGc/gAc	0	not done		probablydamaging	
ALG10B		inserm.fr	GRCh37	12	38712126	38712126	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1185T																					ENST00000308742.4:c.235G>A	p.Ala79Thr	p.A79T	ENST00000308742	NM_001013620.3	79	Gcc/Acc	0	not done		possiblydamaging	
SCN10A		inserm.fr	GRCh37	3	38739773	38739773	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000449082.2:c.4938C>T	p.Thr1646=	p.T1646=	ENST00000449082	NM_006514.2	1646	acC/acT	0	not done		synonymous	
DNAH8		inserm.fr	GRCh37	6	38746198	38746198	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359357.3:c.1346G>A	p.Gly449Glu	p.G449E	ENST00000359357		449	gGg/gAg	0	not done		benign	
SCN10A		inserm.fr	GRCh37	3	38760164	38760164	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000449082.2:c.3661C>T	p.Leu1221=	p.L1221=	ENST00000449082	NM_006514.2	1221	Ctg/Ttg	0	not done		synonymous	
SCN10A		inserm.fr	GRCh37	3	38770259	38770259	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000449082.2:c.2414G>T	p.Gly805Val	p.G805V	ENST00000449082	NM_006514.2	805	gGc/gTc	0	not done		possiblydamaging	
TLR10		inserm.fr	GRCh37	4	38776824	38776824	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC909T																					ENST00000308973.4:c.388G>T	p.Asp130Tyr	p.D130Y	ENST00000308973	NM_030956.3	130	Gac/Tac	0	not done		possiblydamaging	
RASGRP1		inserm.fr	GRCh37	15	38786591	38786591	+	synonymous_variant	Silent	SNP	G	A	A			CHC1745T																					ENST00000310803.5:c.2251C>T	p.Leu751=	p.L751=	ENST00000310803	NM_005739.3	751	Ctg/Ttg	0	not done		synonymous	
SMARCE1		inserm.fr	GRCh37	17	38787113	38787113	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1209T																					ENST00000348513.6:c.880G>T	p.Glu294Ter	p.E294*	ENST00000348513	NM_003079.4	294	Gaa/Taa	0	not done		damaging	
DNAH8		inserm.fr	GRCh37	6	38793962	38793962	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC155T									Valid												ENST00000359357.3:c.3227C>A	p.Ala1076Asp	p.A1076D	ENST00000359357		1076	gCc/gAc	0	validated		possiblydamaging	
DLGAP1		inserm.fr	GRCh37	18	3879421	3879421	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000315677.3:c.648C>T	p.His216=	p.H216=	ENST00000315677	NM_004746.3	216	caC/caT	0	not done		synonymous	
YIF1B		inserm.fr	GRCh37	19	38796040	38796040	+	synonymous_variant	Silent	SNP	C	A	A			BCM337T																					ENST00000339413.6:c.897G>T	p.Ala299=	p.A299=	ENST00000339413	NM_001039673.2	299	gcG/gcT	0	validated		synonymous	
DLGAP1		inserm.fr	GRCh37	18	3880004	3880004	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1725T																					ENST00000315677.3:c.65C>T	p.Ser22Leu	p.S22L	ENST00000315677	NM_004746.3	22	tCg/tTg	0	not done		benign	
PLEKHA2		inserm.fr	GRCh37	8	38810203	38810203	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000420274.1:c.683G>A	p.Cys228Tyr	p.C228Y	ENST00000420274	NM_021623.1	228	tGc/tAc	0	not done		possiblydamaging	
DNAH8		inserm.fr	GRCh37	6	38818099	38818099	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2127T																					ENST00000359357.3:c.4621G>A	p.Val1541Met	p.V1541M	ENST00000359357		1541	Gtg/Atg	0	not done		probablydamaging	
KRT222		inserm.fr	GRCh37	17	38821261	38821261	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1191T																					ENST00000394052.3:c.91A>T	p.Ile31Phe	p.I31F	ENST00000394052	NM_152349.2	31	Atc/Ttc	0	not done		benign	
CATSPERG		inserm.fr	GRCh37	19	38837245	38837245	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000409235.3:c.825G>A	p.Glu275=	p.E275=	ENST00000409235	NM_021185.4	275	gaG/gaA	0	not done		damaging	
KRT24		inserm.fr	GRCh37	17	38854528	38854528	+	synonymous_variant	Silent	SNP	C	A	A			CHC1629T																					ENST00000264651.2:c.1539G>T	p.Ser513=	p.S513=	ENST00000264651	NM_019016.2	513	tcG/tcT	0	not done		synonymous	
CATSPERG		inserm.fr	GRCh37	19	38857948	38857948	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000409235.3:c.2766G>A	p.Arg922=	p.R922=	ENST00000409235	NM_021185.4	922	cgG/cgA	0	not done		synonymous	
CATSPERG		inserm.fr	GRCh37	19	38858209	38858209	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000409235.3:c.2831G>A	p.Gly944Asp	p.G944D	ENST00000409235	NM_021185.4	944	gGc/gAc	0	not done		probablydamaging	
GGN		inserm.fr	GRCh37	19	38877579	38877579	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000334928.6:c.323C>T	p.Pro108Leu	p.P108L	ENST00000334928	NM_152657.3	108	cCg/cTg	0	validated		probablydamaging	
DYRK1A		inserm.fr	GRCh37	21	38877629	38877629	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000398960.2:c.1283G>A	p.Gly428Glu	p.G428E	ENST00000398960	NM_001396.3	428	gGa/gAa	0	not done		probablydamaging	
SPRED3		inserm.fr	GRCh37	19	38885349	38885349	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000338502.4:c.490G>A	p.Ala164Thr	p.A164T	ENST00000338502	NM_001042522.2	164	Gcc/Acc	0	not done		possiblydamaging	
DNAH8		inserm.fr	GRCh37	6	38889196	38889196	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1708T																					ENST00000359357.3:c.9925G>A	p.Gly3309Arg	p.G3309R	ENST00000359357		3309	Ggg/Agg	0	not done		benign	
RASGRP4		inserm.fr	GRCh37	19	38903590	38903590	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1757T																					ENST00000587738.1:c.1516C>T	p.His506Tyr	p.H506Y	ENST00000587738		506	Cac/Tac	0	not done		probablydamaging	
KRT25		inserm.fr	GRCh37	17	38906808	38906808	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000312150.4:c.999C>T	p.Asn333=	p.N333=	ENST00000312150	NM_181534.3	333	aaC/aaT	0	not done		synonymous	
FAM114A1		inserm.fr	GRCh37	4	38916642	38916642	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000358869.2:c.893G>A	p.Gly298Asp	p.G298D	ENST00000358869	NM_138389.2	298	gGc/gAc	0	not done		probablydamaging	
KRT26		inserm.fr	GRCh37	17	38926374	38926374	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	A	A			CHC1604T																					ENST00000335552.4:c.682G>T	p.Glu228Ter	p.E228*	ENST00000335552	NM_181539.4	228	Gaa/Taa	0	not done		possiblydamaging	
RYR1		inserm.fr	GRCh37	19	38934210	38934210	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359596.3:c.283G>A	p.Gly95Arg	p.G95R	ENST00000359596		95	Ggg/Agg	0	not done		probablydamaging	
KRT27		inserm.fr	GRCh37	17	38938533	38938533	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000301656.3:c.213C>T	p.Ala71=	p.A71=	ENST00000301656	NM_181537.3	71	gcC/gcT	0	not done		synonymous	
RYR1		inserm.fr	GRCh37	19	38942495	38942495	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359596.3:c.1214G>A	p.Ser405Asn	p.S405N	ENST00000359596		405	aGc/aAc	0	not done		possiblydamaging	
RYR1		inserm.fr	GRCh37	19	38943608	38943608	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1186T																					ENST00000359596.3:c.1394G>A	p.Ser465Asn	p.S465N	ENST00000359596		465	aGc/aAc	0	not done		benign	
FAM114A1		inserm.fr	GRCh37	4	38945113	38945113	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2216T																					ENST00000358869.2:c.1627C>A	p.Gln543Lys	p.Q543K	ENST00000358869	NM_138389.2	543	Cag/Aag	0	validated		probablydamaging	
ADAM9		inserm.fr	GRCh37	8	38947586	38947586	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000487273.2:c.2089G>A	p.Asp697Asn	p.D697N	ENST00000487273	NM_003816.2	697	Gac/Aac	0	not done		benign	
KRT28		inserm.fr	GRCh37	17	38950100	38950100	+	synonymous_variant	Silent	SNP	G	A	A			CHC2103T																					ENST00000306658.7:c.1177C>T	p.Leu393=	p.L393=	ENST00000306658	NM_181535.3	393	Ctg/Ttg	0	not done		synonymous	
RICTOR		inserm.fr	GRCh37	5	38950726	38950726	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1594T																					ENST00000357387.3:c.3224G>T	p.Arg1075Leu	p.R1075L	ENST00000357387	NM_152756.3	1075	cGa/cTa	0	not done		possiblydamaging	
KRT10		inserm.fr	GRCh37	17	38976804	38976804	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000269576.5:c.826C>T	p.Leu276=	p.L276=	ENST00000269576	NM_000421.3	276	Ctg/Ttg	0	not done		synonymous	
TMEM156		inserm.fr	GRCh37	4	38987998	38987998	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2115T																					ENST00000381938.3:c.781G>T	p.Asp261Tyr	p.D261Y	ENST00000381938	NM_024943.1	261	Gat/Tat	0	not done		probablydamaging	
KCNJ6		inserm.fr	GRCh37	21	38997604	38997604	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1601T																					ENST00000609713.1:c.1129G>T	p.Ala377Ser	p.A377S	ENST00000609713	NM_002240.3	377	Gca/Tca	0	not done		benign	
CREBBP		inserm.fr	GRCh37	16	3900595	3900595	+	synonymous_variant	Silent	SNP	G	A	A			CHC1715T																					ENST00000262367.5:c.501C>T	p.Ala167=	p.A167=	ENST00000262367	NM_004380.2	167	gcC/gcT	0	not done		synonymous	
RYR1		inserm.fr	GRCh37	19	39018309	39018309	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359596.3:c.10709G>A	p.Arg3570His	p.R3570H	ENST00000359596		3570	cGc/cAc	0	not done		probablydamaging	
RYR1		inserm.fr	GRCh37	19	39018362	39018362	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1209T																					ENST00000359596.3:c.10762G>A	p.Asp3588Asn	p.D3588N	ENST00000359596		3588	Gac/Aac	0	not done		benign	
KRT12		inserm.fr	GRCh37	17	39021093	39021093	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC197T									Valid												ENST00000251643.4:c.772G>T	p.Glu258Ter	p.E258*	ENST00000251643	NM_000223.3	258	Gag/Tag	0	validated		damaging	
KLHL5		inserm.fr	GRCh37	4	39064609	39064609	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1725T																					ENST00000504108.1:c.475G>A	p.Asp159Asn	p.D159N	ENST00000504108	NM_015990.4	159	Gat/Aat	0	not done		benign	
KLHL5		inserm.fr	GRCh37	4	39083586	39083586	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB157T									Valid												ENST00000504108.1:c.845G>A	p.Arg282His	p.R282H	ENST00000504108	NM_015990.4	282	cGc/cAc	0	validated		probablydamaging	
KRT23		inserm.fr	GRCh37	17	39084798	39084798	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000209718.3:c.698C>T	p.Pro233Leu	p.P233L	ENST00000209718	NM_015515.3	233	cCc/cTc	0	not done		probablydamaging	
MAP4K1		inserm.fr	GRCh37	19	39087086	39087086	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC891T																					ENST00000591517.1:c.1982C>T	p.Ala661Val	p.A661V	ENST00000591517	NM_007181.4	661	gCg/gTg	0	not done		benign	
EIF3K		inserm.fr	GRCh37	19	39114771	39114771	+	synonymous_variant	Silent	SNP	G	A	A			CHC1704T																					ENST00000248342.4:c.213G>A	p.Leu71=	p.L71=	ENST00000248342	NM_013234.2	71	ctG/ctA	0	not done		synonymous	
KRT39		inserm.fr	GRCh37	17	39118427	39118427	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000355612.2:c.983C>T	p.Ala328Val	p.A328V	ENST00000355612	NM_213656.3	328	gCc/gTc	0	not done		probablydamaging	
KRT40		inserm.fr	GRCh37	17	39137158	39137158	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB301T																					ENST00000377755.4:c.854A>T	p.Glu285Val	p.E285V	ENST00000377755		285	gAa/gTa	0	validated		probablydamaging	
TTC21A		inserm.fr	GRCh37	3	39156109	39156109	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000431162.2:c.592G>A	p.Glu198Lys	p.E198K	ENST00000431162		198	Gag/Aag	0	not done		benign	
KRTAP1-4		inserm.fr	GRCh37	17	39186081	39186081	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000377747.4:c.250C>T	p.Pro84Ser	p.P84S	ENST00000377747	NM_001257305.1	84	Ccc/Tcc	0	not done			
FYB		inserm.fr	GRCh37	5	39202821	39202821	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM399T									Valid												ENST00000540520.1:c.272C>T	p.Pro91Leu	p.P91L	ENST00000540520	NM_001243093.1	91	cCg/cTg	0	validated		probablydamaging	
SOS1		inserm.fr	GRCh37	2	39224440	39224440	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM375T									Valid												ENST00000402219.2:c.2918A>T	p.Gln973Leu	p.Q973L	ENST00000402219	NM_005633.3	973	cAg/cTg	0	validated		probablydamaging	
XIRP1		inserm.fr	GRCh37	3	39227003	39227003	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000340369.3:c.3934C>T	p.Pro1312Ser	p.P1312S	ENST00000340369	NM_194293.2	1312	Cca/Tca	0	not done		benign	
XIRP1		inserm.fr	GRCh37	3	39227587	39227587	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000340369.3:c.3350C>T	p.Pro1117Leu	p.P1117L	ENST00000340369	NM_194293.2	1117	cCc/cTc	0	not done		probablydamaging	
XIRP1		inserm.fr	GRCh37	3	39228006	39228006	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000340369.3:c.2931C>T	p.Asp977=	p.D977=	ENST00000340369	NM_194293.2	977	gaC/gaT	0	not done		synonymous	
CAPN12		inserm.fr	GRCh37	19	39234681	39234681	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC197T																					ENST00000328867.4:c.125C>T	p.Ser42Leu	p.S42L	ENST00000328867	NM_144691.3	42	tCg/tTg	0	validated		benign	
WDR19		inserm.fr	GRCh37	4	39236496	39236496	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC1598T																					ENST00000399820.3:c.2363+1G>A		p.X788_splice	ENST00000399820	NM_025132.3			0	not done		possiblydamaging	
KRTAP4-7		inserm.fr	GRCh37	17	39240794	39240794	+	synonymous_variant	Silent	SNP	C	A	A			CHC799T																					ENST00000391417.4:c.336C>A	p.Pro112=	p.P112=	ENST00000391417	NM_033061.3	112	ccC/ccA	0	not done		synonymous	
POU6F2		inserm.fr	GRCh37	7	39247080	39247080	+	synonymous_variant	Silent	SNP	C	A	A			CHC1600T																					ENST00000403058.1:c.372C>A	p.Pro124=	p.P124=	ENST00000403058	NM_001166018.1	124	ccC/ccA	0	not done		synonymous	
ZZEF1		inserm.fr	GRCh37	17	3926037	3926037	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1757T																					ENST00000381638.2:c.7178G>T	p.Gly2393Val	p.G2393V	ENST00000381638	NM_015113.3	2393	gGc/gTc	0	not done		probablydamaging	
FREM2		inserm.fr	GRCh37	13	39262244	39262244	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC889T																					ENST00000280481.7:c.763G>A	p.Asp255Asn	p.D255N	ENST00000280481	NM_207361.4	255	Gac/Aac	0	not done		benign	
FREM2		inserm.fr	GRCh37	13	39262519	39262519	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000280481.7:c.1038G>A	p.Glu346=	p.E346=	ENST00000280481	NM_207361.4	346	gaG/gaA	0	not done		synonymous	
FREM2		inserm.fr	GRCh37	13	39266105	39266105	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000280481.7:c.4624G>A	p.Val1542Ile	p.V1542I	ENST00000280481	NM_207361.4	1542	Gtt/Att	0	not done		benign	
KRTAP4-11		inserm.fr	GRCh37	17	39274157	39274157	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000391413.2:c.411C>T	p.Pro137=	p.P137=	ENST00000391413	NM_033059.3	137	ccC/ccT	0	not done		synonymous	
KCNK16		inserm.fr	GRCh37	6	39284038	39284038	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000425054.2:c.661+520C>T		*221*	ENST00000425054	NM_001135105.1			0	not done			
MAFB		inserm.fr	GRCh37	20	39316633	39316633	+	synonymous_variant	Silent	SNP	C	A	A			CHC1715T																					ENST00000373313.2:c.858G>T	p.Arg286=	p.R286=	ENST00000373313	NM_005461.4	286	cgG/cgT	0	not done		synonymous	
DSCR4		inserm.fr	GRCh37	21	39325215	39325215	+	synonymous_variant	Silent	SNP	G	A	A			CHC1742T																					ENST00000398948.1:c.324C>T	p.Cys108=	p.C108=	ENST00000398948		108	tgC/tgT	0	not done		synonymous	
KRTAP4-1		inserm.fr	GRCh37	17	39340945	39340945	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000398472.1:c.162C>T	p.Cys54=	p.C54=	ENST00000398472		54	tgC/tgT	0	not done		synonymous	
KRTAP9-1		inserm.fr	GRCh37	17	39346380	39346380	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000398470.1:c.242G>A	p.Cys81Tyr	p.C81Y	ENST00000398470	NM_001190460.1	81	tGc/tAc	0	not done			
RFC1		inserm.fr	GRCh37	4	39347061	39347061	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1763T																					ENST00000381897.1:c.168A>T	p.Gln56His	p.Q56H	ENST00000381897	NM_002913.4	56	caA/caT	0	not done		probablydamaging	
RINL		inserm.fr	GRCh37	19	39359928	39359928	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC313T									Valid												ENST00000591812.1:c.1597C>T	p.Arg533Cys	p.R533C	ENST00000591812		533	Cgc/Tgc	0	validated		probablydamaging	
APOBEC3B		inserm.fr	GRCh37	22	39388135	39388135	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000333467.3:c.1115G>A	p.Arg372Lys	p.R372K	ENST00000333467	NM_004900.4	372	aGg/aAg	0	not done		benign	
KRTAP9-4		inserm.fr	GRCh37	17	39406312	39406312	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000334109.2:c.340C>A	p.Pro114Thr	p.P114T	ENST00000334109	NM_033191.2	114	Cct/Act	0	not done		probablydamaging	
SARS2		inserm.fr	GRCh37	19	39421121	39421121	+	synonymous_variant	Silent	SNP	G	A	A			CHC805T																					ENST00000600042.1:c.256C>T	p.Leu86=	p.L86=	ENST00000600042	NM_001145901.1	86	Ctg/Ttg	0	not done		synonymous	
KLB		inserm.fr	GRCh37	4	39435942	39435942	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC434T																					ENST00000257408.4:c.938C>A	p.Thr313Lys	p.T313K	ENST00000257408	NM_175737.3	313	aCg/aAg	0	validated		benign	
KLB		inserm.fr	GRCh37	4	39450161	39450161	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1745T																					ENST00000257408.4:c.2990T>A	p.Leu997Gln	p.L997Q	ENST00000257408	NM_175737.3	997	cTg/cAg	0	not done		probablydamaging	
KRTAP29-1		inserm.fr	GRCh37	17	39458147	39458147	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000391353.1:c.957C>T	p.Gly319=	p.G319=	ENST00000391353	NM_001257309.1	319	ggC/ggT	0	not done		synonymous	
KRTAP29-1		inserm.fr	GRCh37	17	39458983	39458983	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			BCM695T																					ENST00000391353.1:c.121A>T	p.Arg41Ter	p.R41*	ENST00000391353	NM_001257309.1	41	Aga/Tga	0	validated		damaging	
KRTAP16-1		inserm.fr	GRCh37	17	39464098	39464098	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000391352.1:c.1408C>T	p.Gln470Ter	p.Q470*	ENST00000391352	NM_001146182.1	470	Caa/Taa	0	not done		damaging	
KRTAP16-1		inserm.fr	GRCh37	17	39464943	39464943	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1700T																					ENST00000391352.1:c.563C>T	p.Ser188Phe	p.S188F	ENST00000391352	NM_001146182.1	188	tCc/tTc	0	not done			
POU6F2		inserm.fr	GRCh37	7	39500231	39500231	+	synonymous_variant	Silent	SNP	G	A	A			CHC1192T																					ENST00000403058.1:c.1488G>A	p.Leu496=	p.L496=	ENST00000403058	NM_001166018.1	496	ctG/ctA	0	not done		synonymous	
KRT34		inserm.fr	GRCh37	17	39535321	39535321	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000394001.1:c.1110C>T	p.Ile370=	p.I370=	ENST00000394001	NM_021013.3	370	atC/atT	0	not done		synonymous	
KRT37		inserm.fr	GRCh37	17	39577672	39577672	+	synonymous_variant	Silent	SNP	C	A	A			CHC799T																					ENST00000225550.3:c.1188G>T	p.Arg396=	p.R396=	ENST00000225550	NM_003770.4	396	cgG/cgT	0	not done		synonymous	
PROSER1		inserm.fr	GRCh37	13	39588542	39588542	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC303T																					ENST00000352251.3:c.847G>T	p.Val283Phe	p.V283F	ENST00000352251	NM_025138.4	283	Gtt/Ttt	0	validated		possiblydamaging	
PAPL		inserm.fr	GRCh37	19	39600738	39600738	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1754T																					ENST00000331256.5:c.1297G>A	p.Gly433Ser	p.G433S	ENST00000331256	NM_001004318.2	433	Ggc/Agc	0	not done		possiblydamaging	
AXIN1		inserm.fr	GRCh37	16	396233	396233	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC306T									Valid												ENST00000262320.3:c.793G>T	p.Gly265Ter	p.G265*	ENST00000262320	NM_003502.3	265	Gga/Tga	0	validated		damaging	
KRT36		inserm.fr	GRCh37	17	39643984	39643984	+	synonymous_variant	Silent	SNP	G	A	A			CHC1211T																					ENST00000328119.6:c.705C>T	p.Val235=	p.V235=	ENST00000328119	NM_003771.4	235	gtC/gtT	0	not done		synonymous	
KRT36		inserm.fr	GRCh37	17	39645747	39645747	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1750T																					ENST00000328119.6:c.370C>T	p.Arg124Cys	p.R124C	ENST00000328119	NM_003771.4	124	Cgc/Tgc	0	not done		benign	
PNN		inserm.fr	GRCh37	14	39646655	39646655	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000216832.4:c.294G>A	p.Gln98=	p.Q98=	ENST00000216832	NM_002687.3	98	caG/caA	0	not done		synonymous	
DAPK3		inserm.fr	GRCh37	19	3964705	3964705	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000545797.2:c.347C>T	p.Ala116Val	p.A116V	ENST00000545797		116	gCc/gTc	0	not done		probablydamaging	
AXIN1		inserm.fr	GRCh37	16	396590	396590	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM321T																					ENST00000262320.3:c.436C>T	p.Arg146Ter	p.R146*	ENST00000262320	NM_003502.3	146	Cga/Tga	0	validated		damaging	
AXIN1		inserm.fr	GRCh37	16	396590	396590	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1743T									Valid												ENST00000262320.3:c.436C>T	p.Arg146Ter	p.R146*	ENST00000262320	NM_003502.3	146	Cga/Tga	0	not done		damaging	
KRT13		inserm.fr	GRCh37	17	39659673	39659673	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1601T																					ENST00000246635.3:c.601C>T	p.Arg201Cys	p.R201C	ENST00000246635	NM_153490.2	201	Cgc/Tgc	0	not done		possiblydamaging	
KRT15		inserm.fr	GRCh37	17	39672157	39672157	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000254043.3:c.1006C>T	p.Leu336=	p.L336=	ENST00000254043	NM_002275.3	336	Ctg/Ttg	0	not done		synonymous	
AXIN1		inserm.fr	GRCh37	16	396767	396767	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1743T									Valid												ENST00000262320.3:c.259G>T	p.Glu87Ter	p.E87*	ENST00000262320	NM_003502.3	87	Gag/Tag	0	not done		damaging	
NCCRP1		inserm.fr	GRCh37	19	39688725	39688725	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC796T																					ENST00000339852.4:c.370G>A	p.Gly124Ser	p.G124S	ENST00000339852	NM_001001414.1	124	Ggt/Agt	0	validated		probablydamaging	
NCCRP1		inserm.fr	GRCh37	19	39691013	39691013	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000339852.4:c.576C>A	p.Cys192Ter	p.C192*	ENST00000339852	NM_001001414.1	192	tgC/tgA	0	not done		damaging	
PKP3		inserm.fr	GRCh37	11	397128	397128	+	synonymous_variant	Silent	SNP	C	A	A			CHC1053T																					ENST00000331563.2:c.627C>A	p.Thr209=	p.T209=	ENST00000331563	NM_007183.2	209	acC/acA	0	validated		synonymous	
IRF4		inserm.fr	GRCh37	6	397138	397138	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1731T																					ENST00000380956.4:c.523G>A	p.Asp175Asn	p.D175N	ENST00000380956	NM_001195286.1	175	Gac/Aac	0	not done		possiblydamaging	
MIA2	4253	inserm.fr	GRCh37	14	39716316	39716316	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000280082.3:c.538G>A	p.Ala180Thr	p.A180T	ENST00000280082	NM_054024.3	180	Gca/Aca	0	not done		possiblydamaging	
MIA2	4253	inserm.fr	GRCh37	14	39722081	39722081	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC326T																					ENST00000280082.3:c.1697T>A	p.Ile566Lys	p.I566K	ENST00000280082	NM_054024.3	566	aTa/aAa	0	validated			
KIF21A		inserm.fr	GRCh37	12	39735368	39735368	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC121T																					ENST00000361418.5:c.1860G>T	p.Glu620Asp	p.E620D	ENST00000361418		620	gaG/gaT	0	validated		benign	
KRT14		inserm.fr	GRCh37	17	39742721	39742721	+	synonymous_variant	Silent	SNP	G	A	A			CHC1754T																					ENST00000167586.6:c.366C>T	p.Leu122=	p.L122=	ENST00000167586	NM_000526.4	122	ctC/ctT	0	not done		synonymous	
PKP3		inserm.fr	GRCh37	11	397573	397573	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC155T																					ENST00000331563.2:c.979T>A	p.Tyr327Asn	p.Y327N	ENST00000331563	NM_007183.2	327	Tac/Aac	0	validated		benign	
MACF1		inserm.fr	GRCh37	1	39765967	39765967	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1600T																					ENST00000545844.1:c.2582G>A	p.Arg861His	p.R861H	ENST00000545844		861	cGc/cAc	0	not done		probablydamaging	
CTAGE5		inserm.fr	GRCh37	14	39787149	39787149	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	A	A			CHC1594T																					ENST00000396158.2:c.1409T>A	p.Leu470Ter	p.L470*	ENST00000396158	NM_001247989.1	470	tTg/tAg	0	not done		damaging	
MACF1		inserm.fr	GRCh37	1	39788662	39788662	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000545844.1:c.4233G>A	p.Arg1411=	p.R1411=	ENST00000545844		1411	cgG/cgA	0	not done		synonymous	
IFNL1		inserm.fr	GRCh37	19	39788691	39788691	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000333625.2:c.337G>A	p.Val113Ile	p.V113I	ENST00000333625	NM_172140.1	113	Gtc/Atc	0	validated		benign	
ERG		inserm.fr	GRCh37	21	39795416	39795416	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1010T																					ENST00000288319.7:c.304A>T	p.Met102Leu	p.M102L	ENST00000288319	NM_182918.3	102	Atg/Ttg	0	not done		probablydamaging	
LRFN1		inserm.fr	GRCh37	19	39805365	39805365	+	synonymous_variant	Silent	SNP	C	A	A			BCB231T																					ENST00000248668.4:c.612G>T	p.Gly204=	p.G204=	ENST00000248668	NM_020862.1	204	ggG/ggT	0	validated		synonymous	
DAAM2		inserm.fr	GRCh37	6	39836697	39836697	+	synonymous_variant	Silent	SNP	T	A	A			CHC1738T																					ENST00000398904.2:c.861T>A	p.Ala287=	p.A287=	ENST00000398904		287	gcT/gcA	0	not done		synonymous	
MACF1		inserm.fr	GRCh37	1	39853868	39853868	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000545844.1:c.9168G>A	p.Leu3056=	p.L3056=	ENST00000545844		3056	ctG/ctA	0	not done		synonymous	
MACF1		inserm.fr	GRCh37	1	39853883	39853883	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000545844.1:c.9183G>A	p.Gln3061=	p.Q3061=	ENST00000545844		3061	caG/caA	0	not done		synonymous	
PAF1		inserm.fr	GRCh37	19	39876862	39876862	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000221265.3:c.1365C>T	p.Gly455=	p.G455=	ENST00000221265	NM_019088.3	455	ggC/ggT	0	validated		synonymous	
THBS1		inserm.fr	GRCh37	15	39880276	39880276	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2034T																					ENST00000260356.5:c.1328C>A	p.Pro443Gln	p.P443Q	ENST00000260356	NM_003246.2	443	cCg/cAg	0	not done		probablydamaging	
FBXO33		inserm.fr	GRCh37	14	39900997	39900997	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM375T									Valid												ENST00000298097.7:c.370C>T	p.Arg124Trp	p.R124W	ENST00000298097	NM_203301.3	124	Cgg/Tgg	0	validated		probablydamaging	
PLEKHG2		inserm.fr	GRCh37	19	39905652	39905652	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000409794.3:c.130G>A	p.Ala44Thr	p.A44T	ENST00000409794	NM_022835.2	44	Gcc/Acc	0	not done		benign	
PLEKHG2		inserm.fr	GRCh37	19	39905989	39905989	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000409794.3:c.389G>A	p.Gly130Asp	p.G130D	ENST00000409794	NM_022835.2	130	gGc/gAc	0	not done		probablydamaging	
MACF1		inserm.fr	GRCh37	1	39913558	39913558	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000545844.1:c.13779G>A	p.Lys4593=	p.K4593=	ENST00000545844		4593	aaG/aaA	0	not done		synonymous	
PLEKHG2		inserm.fr	GRCh37	19	39913667	39913667	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000409794.3:c.1973G>A	p.Ser658Asn	p.S658N	ENST00000409794	NM_022835.2	658	aGt/aAt	0	not done		possiblydamaging	
JUP		inserm.fr	GRCh37	17	39925321	39925321	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1185T																					ENST00000393931.3:c.607C>T	p.Arg203Cys	p.R203C	ENST00000393931	NM_002230.2	203	Cgc/Tgc	0	not done		probablydamaging	
MACF1		inserm.fr	GRCh37	1	39926431	39926431	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM739T									Valid												ENST00000545844.1:c.15311C>A	p.Thr5104Lys	p.T5104K	ENST00000545844		5104	aCa/aAa	0	validated		probablydamaging	
BCOR		inserm.fr	GRCh37	X	39932314	39932314	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM337T									Valid												ENST00000378444.4:c.2285A>T	p.Asn762Ile	p.N762I	ENST00000378444	NM_001123385.1	762	aAt/aTt	0	validated		possiblydamaging	
BMP8A		inserm.fr	GRCh37	1	39957970	39957970	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1756T																					ENST00000331593.5:c.307G>A	p.Asp103Asn	p.D103N	ENST00000331593	NM_181809.3	103	Gac/Aac	0	validated		probablydamaging	
SUPT5H		inserm.fr	GRCh37	19	39964156	39964156	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000599117.1:c.2487G>A	p.Pro829=	p.P829=	ENST00000599117		829	ccG/ccA	0	not done		synonymous	
LPIN3		inserm.fr	GRCh37	20	39987430	39987430	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC320T									Valid												ENST00000373257.3:c.2480T>A	p.Leu827Gln	p.L827Q	ENST00000373257	NM_022896.1	827	cTg/cAg	0	validated		probablydamaging	
EMILIN3		inserm.fr	GRCh37	20	39990202	39990202	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000332312.3:c.2007C>T	p.Ala669=	p.A669=	ENST00000332312	NM_052846.1	669	gcC/gcT	0	not done		synonymous	
EMILIN3		inserm.fr	GRCh37	20	39990646	39990646	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000332312.3:c.1563C>T	p.Cys521=	p.C521=	ENST00000332312	NM_052846.1	521	tgC/tgT	0	not done		synonymous	
CDK13		inserm.fr	GRCh37	7	39990935	39990935	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000181839.4:c.695G>A	p.Arg232His	p.R232H	ENST00000181839	NM_031267.3	232	cGc/cAc	0	not done		possiblydamaging	
CDK13		inserm.fr	GRCh37	7	39990938	39990938	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM321T																					ENST00000181839.4:c.698G>A	p.Ser233Asn	p.S233N	ENST00000181839	NM_031267.3	233	aGc/aAc	0	validated		benign	
DLL3		inserm.fr	GRCh37	19	39994897	39994897	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000205143.4:c.839G>A	p.Gly280Glu	p.G280E	ENST00000205143	NM_016941.3	280	gGg/gAg	0	not done		probablydamaging	
DLL3		inserm.fr	GRCh37	19	39998160	39998160	+	synonymous_variant	Silent	SNP	G	A	A			BCM501T																					ENST00000205143.4:c.1575G>A	p.Gly525=	p.G525=	ENST00000205143	NM_016941.3	525	ggG/ggA	0	validated		synonymous	
KLHL11		inserm.fr	GRCh37	17	40021440	40021440	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000319121.3:c.184G>T	p.Gly62Cys	p.G62C	ENST00000319121	NM_018143.1	62	Ggc/Tgc	0	not done		possiblydamaging	
SDK1		inserm.fr	GRCh37	7	4002385	4002385	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1154T																					ENST00000404826.2:c.1331G>A	p.Arg444His	p.R444H	ENST00000404826	NM_152744.3	444	cGc/cAc	0	not done		benign	
EID2		inserm.fr	GRCh37	19	40030348	40030348	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000390658.2:c.372G>T	p.Arg124Ser	p.R124S	ENST00000390658	NM_153232.3	124	agG/agT	0	not done		probablydamaging	
EID2		inserm.fr	GRCh37	19	40030458	40030458	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM529T																					ENST00000390658.2:c.262G>T	p.Ala88Ser	p.A88S	ENST00000390658	NM_153232.3	88	Gcc/Tcc	0	validated		benign	
CACNA1I		inserm.fr	GRCh37	22	40030686	40030686	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000402142.3:c.697G>A	p.Gly233Ser	p.G233S	ENST00000402142	NM_021096.3	233	Ggc/Agc	0	not done		probablydamaging	
CHD6		inserm.fr	GRCh37	20	40033747	40033747	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373233.3:c.7634C>T	p.Thr2545Ile	p.T2545I	ENST00000373233	NM_032221.4	2545	aCc/aTc	0	not done		benign	
C12orf40		inserm.fr	GRCh37	12	40037700	40037700	+	synonymous_variant	Silent	SNP	T	A	A			BCM371T																					ENST00000324616.5:c.183T>A	p.Ser61=	p.S61=	ENST00000324616	NM_001031748.2	61	tcT/tcA	0	validated		synonymous	
CHD6		inserm.fr	GRCh37	20	40049780	40049780	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1207T																					ENST00000373233.3:c.5495G>T	p.Cys1832Phe	p.C1832F	ENST00000373233	NM_032221.4	1832	tGt/tTt	0	not done		probablydamaging	
CACNA1I		inserm.fr	GRCh37	22	40055843	40055843	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000402142.3:c.2590G>A	p.Gly864Ser	p.G864S	ENST00000402142	NM_021096.3	864	Ggc/Agc	0	not done		probablydamaging	
CACNA1I		inserm.fr	GRCh37	22	40060921	40060921	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T									Valid												ENST00000402142.3:c.3844C>A	p.Pro1282Thr	p.P1282T	ENST00000402142	NM_021096.3	1282	Ccc/Acc	0	validated		probablydamaging	
CACNA1I		inserm.fr	GRCh37	22	40066064	40066064	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC097T																					ENST00000402142.3:c.4216T>A	p.Trp1406Arg	p.W1406R	ENST00000402142	NM_021096.3	1406	Tgg/Agg	0	not done		probablydamaging	
SDK1		inserm.fr	GRCh37	7	4009001	4009001	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000404826.2:c.1659C>A	p.Cys553Ter	p.C553*	ENST00000404826	NM_152744.3	553	tgC/tgA	0	not done		damaging	
LGALS13		inserm.fr	GRCh37	19	40095872	40095872	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1744T																					ENST00000221797.4:c.147T>A	p.Asp49Glu	p.D49E	ENST00000221797	NM_013268.2	49	gaT/gaA	0	not done		benign	
N4BP2		inserm.fr	GRCh37	4	40099189	40099189	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000261435.6:c.229G>A	p.Val77Ile	p.V77I	ENST00000261435	NM_018177.4	77	Gtt/Att	0	not done		probablydamaging	
CDK13		inserm.fr	GRCh37	7	40102681	40102681	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC609T									Valid												ENST00000181839.4:c.2762C>A	p.Ala921Glu	p.A921E	ENST00000181839	NM_031267.3	921	gCa/gAa	0	validated		benign	
CHD6		inserm.fr	GRCh37	20	40122186	40122186	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1754T																					ENST00000373233.3:c.1306A>T	p.Lys436Ter	p.K436*	ENST00000373233	NM_032221.4	436	Aag/Tag	0	not done		damaging	
ZZEF1		inserm.fr	GRCh37	17	4013121	4013121	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2034T																					ENST00000381638.2:c.1103G>T	p.Gly368Val	p.G368V	ENST00000381638	NM_015113.3	368	gGc/gTc	0	not done		probablydamaging	
LRRC4C		inserm.fr	GRCh37	11	40137377	40137377	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC917T																					ENST00000278198.2:c.466C>T	p.Arg156Ter	p.R156*	ENST00000278198		156	Cga/Tga	0	validated		damaging	
LRRC4C		inserm.fr	GRCh37	11	40137631	40137631	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2208T																					ENST00000278198.2:c.212C>T	p.Pro71Leu	p.P71L	ENST00000278198		71	cCg/cTg	0	not done		probablydamaging	
HPCAL4		inserm.fr	GRCh37	1	40149676	40149676	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000372844.3:c.311C>T	p.Ala104Val	p.A104V	ENST00000372844	NM_016257.2	104	gCc/gTc	0	not done		possiblydamaging	
ENTHD1		inserm.fr	GRCh37	22	40161484	40161484	+	synonymous_variant	Silent	SNP	T	A	A			CHC051T																					ENST00000325157.6:c.963A>T	p.Ser321=	p.S321=	ENST00000325157	NM_152512.3	321	tcA/tcT	0	validated		synonymous	
IRF4		inserm.fr	GRCh37	6	401677	401677	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000380956.4:c.999G>A	p.Arg333=	p.R333=	ENST00000380956	NM_001195286.1	333	agG/agA	0	not done		synonymous	
MYRIP		inserm.fr	GRCh37	3	40231804	40231804	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000302541.6:c.1515G>A	p.Arg505=	p.R505=	ENST00000302541	NM_015460.2	505	agG/agA	0	not done		synonymous	
RHOH		inserm.fr	GRCh37	4	40245074	40245074	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1738T																					ENST00000381799.5:c.68G>A	p.Arg23His	p.R23H	ENST00000381799	NM_004310.4	23	cGc/cAc	0	not done		probablydamaging	
DHX58		inserm.fr	GRCh37	17	40257113	40257113	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000251642.3:c.1324G>T	p.Glu442Ter	p.E442*	ENST00000251642	NM_024119.2	442	Gag/Tag	0	not done		damaging	
KCNH4		inserm.fr	GRCh37	17	40317654	40317654	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2103T																					ENST00000264661.3:c.1898G>T	p.Gly633Val	p.G633V	ENST00000264661	NM_012285.2	633	gGa/gTa	0	not done		probablydamaging	
PRPF4B		inserm.fr	GRCh37	6	4032489	4032489	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000337659.6:c.738G>A	p.Arg246=	p.R246=	ENST00000337659	NM_003913.4	246	agG/agA	0	not done		synonymous	
KCNH4		inserm.fr	GRCh37	17	40330864	40330864	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000264661.3:c.257C>T	p.Ala86Val	p.A86V	ENST00000264661	NM_012285.2	86	gCc/gTc	0	not done		possiblydamaging	
FCGBP		inserm.fr	GRCh37	19	40357547	40357547	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2351T																					ENST00000221347.6:c.15766C>T	p.Pro5256Ser	p.P5256S	ENST00000221347	NM_003890.2	5256	Cct/Tct	0	not done		possiblydamaging	
LRFN2		inserm.fr	GRCh37	6	40359841	40359841	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000338305.6:c.2211C>T	p.Val737=	p.V737=	ENST00000338305	NM_020737.1	737	gtC/gtT	0	validated		synonymous	
GRAP2		inserm.fr	GRCh37	22	40362102	40362102	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000344138.4:c.399G>A	p.Arg133=	p.R133=	ENST00000344138	NM_004810.2	133	agG/agA	0	not done		synonymous	
FCGBP		inserm.fr	GRCh37	19	40362849	40362849	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1749T																					ENST00000221347.6:c.15221G>T	p.Arg5074Leu	p.R5074L	ENST00000221347	NM_003890.2	5074	cGc/cTc	0	not done		probablydamaging	
MYCL		inserm.fr	GRCh37	1	40363135	40363135	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000397332.2:c.1094G>T	p.Gly365Val	p.G365V	ENST00000397332	NM_001033082.2	365	gGg/gTg	0	not done		benign	
FAM83F		inserm.fr	GRCh37	22	40417803	40417803	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000333407.6:c.1289G>A	p.Gly430Glu	p.G430E	ENST00000333407	NM_138435.2	430	gGg/gAg	0	not done		benign	
MFSD2A		inserm.fr	GRCh37	1	40420970	40420970	+	synonymous_variant	Silent	SNP	C	A	A			CHC1065T																					ENST00000372809.5:c.6C>A	p.Ala2=	p.A2=	ENST00000372809	NM_001136493.1	2	gcC/gcA	0	validated		synonymous	
FCGBP		inserm.fr	GRCh37	19	40421492	40421492	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC884T									Valid												ENST00000221347.6:c.2429C>T	p.Pro810Leu	p.P810L	ENST00000221347	NM_003890.2	810	cCg/cTg	0	validated		probablydamaging	
FCGBP		inserm.fr	GRCh37	19	40434108	40434108	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1192T																					ENST00000221347.6:c.161G>T	p.Arg54Leu	p.R54L	ENST00000221347	NM_003890.2	54	cGc/cTc	0	not done		probablydamaging	
STAT5A		inserm.fr	GRCh37	17	40453387	40453387	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000345506.4:c.1084G>A	p.Val362Met	p.V362M	ENST00000345506	NM_003152.3	362	Gtg/Atg	0	validated		probablydamaging	
BUB1B		inserm.fr	GRCh37	15	40457285	40457285	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000287598.6:c.67G>A	p.Glu23Lys	p.E23K	ENST00000287598	NM_001211.5	23	Gaa/Aaa	0	not done		probablydamaging	
ENTPD3		inserm.fr	GRCh37	3	40468790	40468790	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM339T																					ENST00000301825.3:c.1381C>A	p.Leu461Ile	p.L461I	ENST00000301825	NM_001248.2	461	Ctt/Att	0	validated		probablydamaging	
BUB1B		inserm.fr	GRCh37	15	40491921	40491921	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000287598.6:c.1394G>A	p.Gly465Asp	p.G465D	ENST00000287598	NM_001211.5	465	gGt/gAt	0	not done		benign	
SLC2A13		inserm.fr	GRCh37	12	40499383	40499383	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1763T																					ENST00000280871.4:c.228G>T	p.Glu76Asp	p.E76D	ENST00000280871	NM_052885.3	76	gaG/gaT	0	not done		benign	
MED14		inserm.fr	GRCh37	X	40560431	40560431	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1744T																					ENST00000324817.1:c.1476G>T	p.Trp492Cys	p.W492C	ENST00000324817	NM_004229.3	492	tgG/tgT	0	not done		probablydamaging	
PTRF		inserm.fr	GRCh37	17	40574944	40574944	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000357037.5:c.172C>T	p.Leu58=	p.L58=	ENST00000357037	NM_012232.5	58	Ctg/Ttg	0	not done		synonymous	
BRWD1		inserm.fr	GRCh37	21	40578100	40578100	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000333229.2:c.4298G>T	p.Arg1433Leu	p.R1433L	ENST00000333229	NM_018963.4	1433	cGa/cTa	0	not done		probablydamaging	
PLCB2		inserm.fr	GRCh37	15	40584599	40584599	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000260402.3:c.2372C>T	p.Thr791Ile	p.T791I	ENST00000260402	NM_004573.2	791	aCc/aTc	0	not done		benign	
PLCB2		inserm.fr	GRCh37	15	40590504	40590504	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC465T									Valid												ENST00000260402.3:c.1075G>T	p.Asp359Tyr	p.D359Y	ENST00000260402	NM_004573.2	359	Gac/Tac	0	validated		probablydamaging	
PLCB2		inserm.fr	GRCh37	15	40595493	40595493	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000260402.3:c.227C>T	p.Pro76Leu	p.P76L	ENST00000260402	NM_004573.2	76	cCc/cTc	0	not done		probablydamaging	
BRWD1		inserm.fr	GRCh37	21	40608651	40608651	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2216T																					ENST00000333229.2:c.2636C>T	p.Pro879Leu	p.P879L	ENST00000333229	NM_018963.4	879	cCt/cTt	0	not done		probablydamaging	
LRRK2		inserm.fr	GRCh37	12	40645296	40645296	+	synonymous_variant	Silent	SNP	C	A	A			CHC1725T																					ENST00000298910.7:c.1131C>A	p.Leu377=	p.L377=	ENST00000298910	NM_198578.3	377	ctC/ctA	0	not done		synonymous	
SIGIRR		inserm.fr	GRCh37	11	406539	406539	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC1731T																					ENST00000431843.2:c.880-1G>T		p.X294_splice	ENST00000431843	NM_001135054.1			0	not done		possiblydamaging	
SLC8A1		inserm.fr	GRCh37	2	40656196	40656196	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1736T																					ENST00000403092.1:c.1225A>T	p.Ile409Phe	p.I409F	ENST00000403092		409	Atc/Ttc	0	not done		possiblydamaging	
SLC8A1		inserm.fr	GRCh37	2	40656476	40656476	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1035T																					ENST00000403092.1:c.945G>T	p.Arg315Ser	p.R315S	ENST00000403092		315	agG/agT	0	validated		benign	
SLC8A1		inserm.fr	GRCh37	2	40657118	40657118	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000403092.1:c.303C>T	p.Ser101=	p.S101=	ENST00000403092		101	tcC/tcT	0	not done		synonymous	
DISP2		inserm.fr	GRCh37	15	40660198	40660198	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1182T																					ENST00000267889.3:c.1885C>A	p.His629Asn	p.H629N	ENST00000267889	NM_033510.1	629	Cac/Aac	0	not done		benign	
KNSTRN		inserm.fr	GRCh37	15	40678633	40678633	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000249776.8:c.375G>A	p.Gln125=	p.Q125=	ENST00000249776	NM_033286.3	125	caG/caA	0	not done		synonymous	
LRRK2		inserm.fr	GRCh37	12	40681325	40681325	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1603T																					ENST00000298910.7:c.2673T>A	p.Asp891Glu	p.D891E	ENST00000298910	NM_198578.3	891	gaT/gaA	0	not done		possiblydamaging	
PTGER4		inserm.fr	GRCh37	5	40681725	40681725	+	synonymous_variant	Silent	SNP	G	A	A			CHC896T																					ENST00000302472.3:c.630G>A	p.Leu210=	p.L210=	ENST00000302472	NM_000958.2	210	ctG/ctA	0	not done		synonymous	
LRRK2		inserm.fr	GRCh37	12	40713974	40713974	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000298910.7:c.5012G>A	p.Ser1671Asn	p.S1671N	ENST00000298910	NM_198578.3	1671	aGc/aAc	0	not done		benign	
LRRK2		inserm.fr	GRCh37	12	40714927	40714927	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000298910.7:c.5107G>A	p.Gly1703Arg	p.G1703R	ENST00000298910	NM_198578.3	1703	Gga/Aga	0	not done		probablydamaging	
C7orf10		inserm.fr	GRCh37	7	40723733	40723733	+	splice_donor_variant	Splice_Site	SNP	G	A	A			BCM735T																					ENST00000309930.5:c.1188+1G>A		p.X396_splice	ENST00000309930	NM_024728.2			0	validated		damaging	
TTC9B		inserm.fr	GRCh37	19	40724118	40724118	+	synonymous_variant	Silent	SNP	C	A	A			BCM791T																					ENST00000311308.6:c.171G>T	p.Ala57=	p.A57=	ENST00000311308	NM_152479.5	57	gcG/gcT	0	validated		synonymous	
PTPRT		inserm.fr	GRCh37	20	40733318	40733318	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1594T																					ENST00000373198.4:c.3488G>T	p.Cys1163Phe	p.C1163F	ENST00000373198	NM_133170.3	1163	tGc/tTc	0	not done		probablydamaging	
FAM134C		inserm.fr	GRCh37	17	40734153	40734153	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC301T									Valid												ENST00000309428.5:c.1079C>T	p.Ser360Phe	p.S360F	ENST00000309428	NM_178126.3	360	tCt/tTt	0	validated		possiblydamaging	
LRRK2		inserm.fr	GRCh37	12	40748165	40748165	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000298910.7:c.6641G>A	p.Trp2214Ter	p.W2214*	ENST00000298910	NM_198578.3	2214	tGg/tAg	0	not done		damaging	
LRRK2		inserm.fr	GRCh37	12	40753170	40753170	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000298910.7:c.6952G>A	p.Gly2318Arg	p.G2318R	ENST00000298910	NM_198578.3	2318	Gga/Aga	0	not done		probablydamaging	
LRRK2		inserm.fr	GRCh37	12	40758654	40758654	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000298910.7:c.7192G>A	p.Val2398Ile	p.V2398I	ENST00000298910	NM_198578.3	2398	Gta/Ata	0	not done		benign	
LRRK2		inserm.fr	GRCh37	12	40758732	40758732	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2048T																					ENST00000298910.7:c.7270G>A	p.Ala2424Thr	p.A2424T	ENST00000298910	NM_198578.3	2424	Gct/Act	0	not done		probablydamaging	
AKT2		inserm.fr	GRCh37	19	40761165	40761165	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM265T																					ENST00000392038.2:c.187A>T	p.Met63Leu	p.M63L	ENST00000392038	NM_001626.4	63	Atg/Ttg	0	validated		benign	
WRB		inserm.fr	GRCh37	21	40763742	40763742	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2358T																					ENST00000333781.5:c.316G>A	p.Val106Ile	p.V106I	ENST00000333781	NM_004627.4	106	Gtc/Atc	0	validated		benign	
C2CD4C		inserm.fr	GRCh37	19	407817	407817	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM321T																					ENST00000332235.6:c.545G>T	p.Gly182Val	p.G182V	ENST00000332235	NM_001136263.1	182	gGg/gTg	0	validated		benign	
CCR10		inserm.fr	GRCh37	17	40831592	40831592	+	synonymous_variant	Silent	SNP	G	A	A			CHC2029T																					ENST00000332438.4:c.1068C>T	p.His356=	p.H356=	ENST00000332438	NM_016602.2	356	caC/caT	0	validated		synonymous	
CCR10		inserm.fr	GRCh37	17	40831676	40831676	+	synonymous_variant	Silent	SNP	C	A	A			CHC1754T																					ENST00000332438.4:c.984G>T	p.Gly328=	p.G328=	ENST00000332438	NM_016602.2	328	ggG/ggT	0	not done		synonymous	
CNTNAP1		inserm.fr	GRCh37	17	40842779	40842779	+	synonymous_variant	Silent	SNP	G	A	A			CHC451T																					ENST00000264638.4:c.1878G>A	p.Val626=	p.V626=	ENST00000264638	NM_003632.2	626	gtG/gtA	0	not done		synonymous	
PLD3		inserm.fr	GRCh37	19	40873689	40873689	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000409587.1:c.332G>A	p.Gly111Asp	p.G111D	ENST00000409587		111	gGc/gAc	0	not done		benign	
PRX		inserm.fr	GRCh37	19	40902041	40902041	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1183T																					ENST00000324001.7:c.2218G>T	p.Val740Leu	p.V740L	ENST00000324001	NM_181882.2	740	Gtg/Ttg	0	not done		probablydamaging	
ZFP69B		inserm.fr	GRCh37	1	40916738	40916738	+	synonymous_variant	Silent	SNP	G	A	A			CHC469T																					ENST00000411995.2:c.105G>A	p.Val35=	p.V35=	ENST00000411995	NM_023070.2	35	gtG/gtA	0	validated		synonymous	
STIM1		inserm.fr	GRCh37	11	4095822	4095822	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000300737.4:c.882G>A	p.Lys294=	p.K294=	ENST00000300737	NM_003156.3	294	aaG/aaA	0	not done		synonymous	
PSME3		inserm.fr	GRCh37	17	40986360	40986360	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000293362.3:c.43-1G>A		p.X15_splice	ENST00000293362	NM_176863.2			0	not done		damaging	
SPTBN4		inserm.fr	GRCh37	19	40996001	40996001	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC961T									Valid												ENST00000352632.3:c.341G>A	p.Arg114His	p.R114H	ENST00000352632		114	cGc/cAc	0	validated		probablydamaging	
UNC5CL		inserm.fr	GRCh37	6	40998487	40998487	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1191T																					ENST00000244565.3:c.1127A>T	p.Glu376Val	p.E376V	ENST00000244565	NM_173561.2	376	gAg/gTg	0	not done		possiblydamaging	
AOC2		inserm.fr	GRCh37	17	41001328	41001328	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000253799.3:c.1814G>A	p.Ser605Asn	p.S605N	ENST00000253799	NM_009590.2	605	aGc/aAc	0	not done		benign	
AOC3		inserm.fr	GRCh37	17	41006704	41006704	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM739T																					ENST00000308423.2:c.1840C>A	p.Pro614Thr	p.P614T	ENST00000308423	NM_003734.3	614	Ccg/Acg	0	validated		possiblydamaging	
SPTBN4		inserm.fr	GRCh37	19	41010000	41010000	+	synonymous_variant	Silent	SNP	G	A	A			BCM375T																					ENST00000352632.3:c.1626G>A	p.Gln542=	p.Q542=	ENST00000352632		542	caG/caA	0	validated		synonymous	
SPTBN4		inserm.fr	GRCh37	19	41025569	41025569	+	synonymous_variant	Silent	SNP	G	A	A			CHC1097T																					ENST00000352632.3:c.3165G>A	p.Gln1055=	p.Q1055=	ENST00000352632		1055	caG/caA	0	validated		synonymous	
SPTBN4		inserm.fr	GRCh37	19	41040050	41040050	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000352632.3:c.4159G>A	p.Glu1387Lys	p.E1387K	ENST00000352632		1387	Gag/Aag	0	validated		probablydamaging	
SPTBN4		inserm.fr	GRCh37	19	41060082	41060082	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000352632.3:c.4704G>A	p.Gly1568=	p.G1568=	ENST00000352632		1568	ggG/ggA	0	not done		synonymous	
SPTBN4		inserm.fr	GRCh37	19	41071394	41071394	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1044T																					ENST00000352632.3:c.5981G>A	p.Arg1994Gln	p.R1994Q	ENST00000352632		1994	cGg/cAg	0	not done		probablydamaging	
SPTBN4		inserm.fr	GRCh37	19	41073985	41073985	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000352632.3:c.6753G>A	p.Arg2251=	p.R2251=	ENST00000352632		2251	cgG/cgA	0	not done		synonymous	
SHKBP1		inserm.fr	GRCh37	19	41092771	41092771	+	synonymous_variant	Silent	SNP	G	A	A			CHC469T																					ENST00000291842.5:c.1257G>A	p.Gly419=	p.G419=	ENST00000291842	NM_138392.3	419	ggG/ggA	0	validated		synonymous	
LTBP4		inserm.fr	GRCh37	19	41112332	41112332	+	synonymous_variant	Silent	SNP	C	A	A			CHC1566T																					ENST00000308370.7:c.1092C>A	p.Gly364=	p.G364=	ENST00000308370	NM_001042544.1	364	ggC/ggA	0	validated		synonymous	
TREML1		inserm.fr	GRCh37	6	41118640	41118640	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000426005.2:c.485C>T	p.Pro162Leu	p.P162L	ENST00000426005	NM_178174.3	162	cCc/cTc	0	not done		benign	
TREM2		inserm.fr	GRCh37	6	41126651	41126651	+	synonymous_variant	Silent	SNP	G	A	A			CHC469T																					ENST00000373113.3:c.636C>T	p.Asp212=	p.D212=	ENST00000373113	NM_018965.3	212	gaC/gaT	0	validated		synonymous	
LTBP4		inserm.fr	GRCh37	19	41129513	41129513	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000308370.7:c.3759G>A	p.Val1253=	p.V1253=	ENST00000308370	NM_001042544.1	1253	gtG/gtA	0	not done		synonymous	
LTBP4		inserm.fr	GRCh37	19	41132934	41132934	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1747T																					ENST00000308370.7:c.4238G>A	p.Arg1413Gln	p.R1413Q	ENST00000308370	NM_001042544.1	1413	cGa/cAa	0	not done		probablydamaging	
C6		inserm.fr	GRCh37	5	41160455	41160455	+	synonymous_variant	Silent	SNP	C	A	A			CHC1035T																					ENST00000263413.3:c.1473G>T	p.Val491=	p.V491=	ENST00000263413	NM_001115131.2	491	gtG/gtT	0	validated		synonymous	
RHOV		inserm.fr	GRCh37	15	41165431	41165431	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC736T									Valid												ENST00000220507.4:c.536G>T	p.Arg179Leu	p.R179L	ENST00000220507	NM_133639.3	179	cGa/cTa	0	validated		probablydamaging	
SFRP1		inserm.fr	GRCh37	8	41166609	41166609	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000220772.3:c.70G>T	p.Ala24Ser	p.A24S	ENST00000220772	NM_003012.4	24	Gcg/Tcg	0	not done		benign	
VAT1		inserm.fr	GRCh37	17	41170190	41170190	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1137T																					ENST00000355653.3:c.629G>T	p.Arg210Leu	p.R210L	ENST00000355653	NM_006373.3	210	cGt/cTt	0	validated		probablydamaging	
NUMBL		inserm.fr	GRCh37	19	41183318	41183318	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1594T																					ENST00000252891.4:c.549G>T	p.Arg183Ser	p.R183S	ENST00000252891	NM_004756.3	183	agG/agT	0	validated		probablydamaging	
GLIS3		inserm.fr	GRCh37	9	4118374	4118374	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000381971.3:c.1104C>T	p.Ser368=	p.S368=	ENST00000381971	NM_001042413.1	368	agC/agT	0	not done		synonymous	
GLIS3		inserm.fr	GRCh37	9	4118822	4118822	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC891T																					ENST00000381971.3:c.656C>T	p.Ser219Leu	p.S219L	ENST00000381971	NM_001042413.1	219	tCg/tTg	0	not done		probablydamaging	
C6		inserm.fr	GRCh37	5	41195946	41195946	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T									Valid												ENST00000263413.3:c.535G>T	p.Val179Leu	p.V179L	ENST00000263413	NM_001115131.2	179	Gta/Tta	0	validated		probablydamaging	
DNAJB7		inserm.fr	GRCh37	22	41257332	41257332	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM739T																					ENST00000307221.4:c.667C>T	p.Leu223Phe	p.L223F	ENST00000307221	NM_145174.1	223	Ctt/Ttt	0	validated		benign	
CTNNB1		inserm.fr	GRCh37	3	41266097	41266097	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC884T									Valid												ENST00000349496.5:c.94G>A	p.Asp32Asn	p.D32N	ENST00000349496	NM_001904.3	32	Gac/Aac	0	validated		damaging	
CTNNB1		inserm.fr	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC917T									Valid												ENST00000349496.5:c.98C>A	p.Ser33Tyr	p.S33Y	ENST00000349496	NM_001904.3	33	tCt/tAt	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1741T									Valid												ENST00000349496.5:c.98C>A	p.Ser33Tyr	p.S33Y	ENST00000349496	NM_001904.3	33	tCt/tAt	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266103	41266103	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC469T									Valid												ENST00000349496.5:c.100G>A	p.Gly34Arg	p.G34R	ENST00000349496	NM_001904.3	34	Gga/Aga	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266104	41266104	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1595T									Valid												ENST00000349496.5:c.101G>A	p.Gly34Glu	p.G34E	ENST00000349496	NM_001904.3	34	gGa/gAa	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266125	41266125	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC614T									Valid												ENST00000349496.5:c.122C>A	p.Thr41Asn	p.T41N	ENST00000349496	NM_001904.3	41	aCc/aAc	0	validated		possiblydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266137	41266137	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC302T									Valid												ENST00000349496.5:c.134C>A	p.Ser45Tyr	p.S45Y	ENST00000349496	NM_001904.3	45	tCt/tAt	0	validated		probablydamaging	
RRM1		inserm.fr	GRCh37	11	4127357	4127357	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000300738.5:c.190G>A	p.Ala64Thr	p.A64T	ENST00000300738	NM_001033.3	64	Gct/Act	0	not done		possiblydamaging	
CTNNB1		inserm.fr	GRCh37	3	41274911	41274911	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1736T									Valid												ENST00000349496.5:c.1161T>A	p.Asn387Lys	p.N387K	ENST00000349496	NM_001904.3	387	aaT/aaA	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41274911	41274911	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1626T									Valid												ENST00000349496.5:c.1161T>A	p.Asn387Lys	p.N387K	ENST00000349496	NM_001904.3	387	aaT/aaA	0	not done		probablydamaging	
KCNQ4		inserm.fr	GRCh37	1	41289926	41289926	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000347132.5:c.1288G>A	p.Glu430Lys	p.E430K	ENST00000347132	NM_004700.3	430	Gaa/Aaa	0	not done		possiblydamaging	
KCNQ4		inserm.fr	GRCh37	1	41303380	41303380	+	synonymous_variant	Silent	SNP	C	A	A			BCM617T																					ENST00000347132.5:c.1789C>A	p.Arg597=	p.R597=	ENST00000347132	NM_004700.3	597	Cgg/Agg	0	validated		synonymous	
XPNPEP3		inserm.fr	GRCh37	22	41322430	41322430	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000357137.4:c.1515G>A	p.Gln505=	p.Q505=	ENST00000357137	NM_022098.3	505	caG/caA	0	not done		synonymous	
PLCXD3		inserm.fr	GRCh37	5	41382103	41382103	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1700T																					ENST00000377801.3:c.637C>T	p.Pro213Ser	p.P213S	ENST00000377801		213	Cca/Tca	0	not done		probablydamaging	
DSCAM		inserm.fr	GRCh37	21	41385009	41385009	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000400454.1:c.5991C>T	p.Gly1997=	p.G1997=	ENST00000400454	NM_001271534.1	1997	ggC/ggT	0	not done		synonymous	
DSCAM		inserm.fr	GRCh37	21	41385139	41385139	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2128T																					ENST00000400454.1:c.5861C>T	p.Ala1954Val	p.A1954V	ENST00000400454	NM_001271534.1	1954	gCc/gTc	0	not done		benign	
CYP2B7P1		inserm.fr	GRCh37	19	41442069	41442069	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000599198.1:n.293G>A		*98*	ENST00000599198				0	not done			
DSCAM		inserm.fr	GRCh37	21	41447021	41447021	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC794T																					ENST00000400454.1:c.4831G>T	p.Val1611Leu	p.V1611L	ENST00000400454	NM_001271534.1	1611	Gtg/Ttg	0	validated		benign	
CYP2A7		inserm.fr	GRCh37	19	41450322	41450322	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC1186T																					ENST00000599198.1:n.1105G>A		*369*	ENST00000599198				0	not done			
RRM1		inserm.fr	GRCh37	11	4150316	4150316	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM783T																					ENST00000300738.5:c.1705G>A	p.Asp569Asn	p.D569N	ENST00000300738	NM_001033.3	569	Gat/Aat	0	validated		benign	
NKX6-3		inserm.fr	GRCh37	8	41507825	41507825	+	upstream_gene_variant	5'Flank	SNP	C	A	A			CHC2103T																								ENST00000524115	NM_152568.2			0	not done			
CASK		inserm.fr	GRCh37	X	41519752	41519752	+	synonymous_variant	Silent	SNP	C	A	A			BCB325T																					ENST00000378166.4:c.771G>T	p.Leu257=	p.L257=	ENST00000378166	NM_003688.3	257	ctG/ctT	0	validated		synonymous	
RRM1		inserm.fr	GRCh37	11	4153516	4153516	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000300738.5:c.1770G>A	p.Lys590=	p.K590=	ENST00000300738	NM_001033.3	590	aaG/aaA	0	not done		damaging	
SDK1		inserm.fr	GRCh37	7	4153711	4153711	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000404826.2:c.3628G>A	p.Gly1210Ser	p.G1210S	ENST00000404826	NM_152744.3	1210	Ggc/Agc	0	not done		probablydamaging	
EP300		inserm.fr	GRCh37	22	41542798	41542798	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC798T																					ENST00000263253.7:c.2109G>A	p.Met703Ile	p.M703I	ENST00000263253	NM_001429.3	703	atG/atA	0	validated		probablydamaging	
ANK1		inserm.fr	GRCh37	8	41547750	41547750	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000265709.8:c.4222G>T	p.Ala1408Ser	p.A1408S	ENST00000265709	NM_001142446.1	1408	Gcc/Tcc	0	not done		benign	
DHX8		inserm.fr	GRCh37	17	41570384	41570384	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262415.3:c.839G>A	p.Cys280Tyr	p.C280Y	ENST00000262415	NM_004941.1	280	tGc/tAc	0	not done		possiblydamaging	
ANK1		inserm.fr	GRCh37	8	41571747	41571747	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000265709.8:c.1826C>T	p.Ala609Val	p.A609V	ENST00000265709	NM_001142446.1	609	gCc/gTc	0	not done		probablydamaging	
ANK1		inserm.fr	GRCh37	8	41573310	41573310	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000265709.8:c.1561C>T	p.Leu521Phe	p.L521F	ENST00000265709	NM_001142446.1	521	Ctc/Ttc	0	not done		probablydamaging	
EP300		inserm.fr	GRCh37	22	41573353	41573353	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2141T																					ENST00000263253.7:c.5638C>A	p.Pro1880Thr	p.P1880T	ENST00000263253	NM_001429.3	1880	Ccc/Acc	0	validated		benign	
EP300		inserm.fr	GRCh37	22	41573938	41573938	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC303T																					ENST00000263253.7:c.6223C>A	p.His2075Asn	p.H2075N	ENST00000263253	NM_001429.3	2075	Cac/Aac	0	validated		possiblydamaging	
PDZRN4		inserm.fr	GRCh37	12	41582547	41582547	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1725T																					ENST00000402685.2:c.290T>A	p.Leu97Gln	p.L97Q	ENST00000402685	NM_001164595.1	97	cTg/cAg	0	not done			
ETV4		inserm.fr	GRCh37	17	41611290	41611290	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000319349.5:c.320C>T	p.Ala107Val	p.A107V	ENST00000319349	NM_001079675.2	107	gCc/gTc	0	not done		benign	
ETV4		inserm.fr	GRCh37	17	41622647	41622647	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1534T																					ENST00000319349.5:c.149C>T	p.Ser50Phe	p.S50F	ENST00000319349	NM_001079675.2	50	tCt/tTt	0	validated		probablydamaging	
CYP2F1		inserm.fr	GRCh37	19	41626382	41626382	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000331105.2:c.465G>A	p.Ala155=	p.A155=	ENST00000331105	NM_000774.3	155	gcG/gcA	0	not done		synonymous	
CYP2F1		inserm.fr	GRCh37	19	41627518	41627518	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000331105.2:c.640G>A	p.Gly214Ser	p.G214S	ENST00000331105	NM_000774.3	214	Ggc/Agc	0	not done		probablydamaging	
CYP2F1		inserm.fr	GRCh37	19	41628849	41628849	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM337T																					ENST00000331105.2:c.945G>A	p.Met315Ile	p.M315I	ENST00000331105	NM_000774.3	315	atG/atA	0	validated		probablydamaging	
SMOX		inserm.fr	GRCh37	20	4167958	4167958	+	synonymous_variant	Silent	SNP	G	A	A			CHC798T																					ENST00000305958.4:c.1572G>A	p.Lys524=	p.K524=	ENST00000305958	NM_175839.2	524	aaG/aaA	0	validated		synonymous	
DSCAM		inserm.fr	GRCh37	21	41684275	41684275	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC327T									Valid												ENST00000400454.1:c.1795A>T	p.Ile599Leu	p.I599L	ENST00000400454	NM_001271534.1	599	Ata/Tta	0	validated		probablydamaging	
KBTBD6		inserm.fr	GRCh37	13	41706039	41706039	+	synonymous_variant	Silent	SNP	G	A	A			CHC1720T																					ENST00000379485.1:c.609C>T	p.Leu203=	p.L203=	ENST00000379485	NM_152903.4	203	ctC/ctT	0	not done		synonymous	
PGC		inserm.fr	GRCh37	6	41708344	41708344	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC798T									Valid												ENST00000373025.3:c.652C>T	p.Gln218Ter	p.Q218*	ENST00000373025	NM_002630.3	218	Cag/Tag	0	validated		damaging	
PGC		inserm.fr	GRCh37	6	41712226	41712226	+	synonymous_variant	Silent	SNP	G	A	A			CHC1597T																					ENST00000373025.3:c.237C>T	p.Ile79=	p.I79=	ENST00000373025	NM_002630.3	79	atC/atT	0	not done		synonymous	
SDK1		inserm.fr	GRCh37	7	4171957	4171957	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000404826.2:c.4130C>A	p.Ala1377Asp	p.A1377D	ENST00000404826	NM_152744.3	1377	gCc/gAc	0	not done		possiblydamaging	
INHBA		inserm.fr	GRCh37	7	41729975	41729975	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000242208.4:c.554G>T	p.Ser185Ile	p.S185I	ENST00000242208	NM_002192.2	185	aGc/aTc	0	not done		benign	
RTF1		inserm.fr	GRCh37	15	41750056	41750056	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000389629.4:c.644G>A	p.Arg215Lys	p.R215K	ENST00000389629	NM_015138.4	215	aGg/aAg	0	not done		probablydamaging	
AXL		inserm.fr	GRCh37	19	41754497	41754497	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM759T																					ENST00000301178.4:c.1616G>A	p.Gly539Glu	p.G539E	ENST00000301178	NM_021913.4	539	gGg/gAg	0	validated		probablydamaging	
AXL		inserm.fr	GRCh37	19	41758835	41758835	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000301178.4:c.1889G>A	p.Ser630Asn	p.S630N	ENST00000301178	NM_021913.4	630	aGc/aAc	0	not done		probablydamaging	
KBTBD7		inserm.fr	GRCh37	13	41766431	41766431	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1061T									Valid												ENST00000379483.3:c.1963G>T	p.Glu655Ter	p.E655*	ENST00000379483	NM_032138.4	655	Gag/Tag	0	validated		damaging	
KBTBD7		inserm.fr	GRCh37	13	41767548	41767548	+	synonymous_variant	Silent	SNP	C	A	A			CHC2099T																					ENST00000379483.3:c.846G>T	p.Leu282=	p.L282=	ENST00000379483	NM_032138.4	282	ctG/ctT	0	not done		synonymous	
KBTBD7		inserm.fr	GRCh37	13	41767733	41767733	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1137T																					ENST00000379483.3:c.661C>T	p.Gln221Ter	p.Q221*	ENST00000379483	NM_032138.4	221	Cag/Tag	0	validated		damaging	
HNRNPUL1		inserm.fr	GRCh37	19	41770655	41770655	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000392006.3:c.247C>A	p.Leu83Met	p.L83M	ENST00000392006	NM_007040.3	83	Ctg/Atg	0	validated		possiblydamaging	
KAT6A		inserm.fr	GRCh37	8	41791731	41791731	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1592T																					ENST00000396930.3:c.4007C>T	p.Pro1336Leu	p.P1336L	ENST00000396930	NM_001099412.1	1336	cCc/cTc	0	not done		benign	
KAT6A		inserm.fr	GRCh37	8	41794999	41794999	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM703T																					ENST00000396930.3:c.3127G>T	p.Glu1043Ter	p.E1043*	ENST00000396930	NM_001099412.1	1043	Gaa/Taa	0	validated		damaging	
FOXO6		inserm.fr	GRCh37	1	41827775	41827775	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM489T																					ENST00000372591.1:c.173G>A	p.Arg58Gln	p.R58Q	ENST00000372591		58	cGg/cAg	0	validated			
KAT6A		inserm.fr	GRCh37	8	41839414	41839414	+	synonymous_variant	Silent	SNP	C	A	A			CHC1744T																					ENST00000396930.3:c.768G>T	p.Arg256=	p.R256=	ENST00000396930	NM_001099412.1	256	cgG/cgT	0	not done		synonymous	
DUSP3		inserm.fr	GRCh37	17	41856174	41856174	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2048T																					ENST00000226004.3:c.119G>T	p.Gly40Val	p.G40V	ENST00000226004	NM_004090.3	40	gGc/gTc	0	not done		probablydamaging	
C17orf105		inserm.fr	GRCh37	17	41859144	41859144	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	A	A			BCB307T																					ENST00000449302.3:c.198T>A	p.Gly66=	p.G66=	ENST00000449302	NM_001136483.1	66	ggT/ggA	0	validated		synonymous	
TYRO3		inserm.fr	GRCh37	15	41862437	41862437	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC1708T																					ENST00000263798.3:c.1383-1G>A		p.X461_splice	ENST00000263798	NM_006293.3			0	not done		possiblydamaging	
TYRO3		inserm.fr	GRCh37	15	41863873	41863873	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000263798.3:c.1741G>A	p.Ala581Thr	p.A581T	ENST00000263798	NM_006293.3	581	Gcc/Acc	0	not done		benign	
SDK1		inserm.fr	GRCh37	7	4188901	4188901	+	synonymous_variant	Silent	SNP	G	A	A			BCM543T																					ENST00000404826.2:c.4431G>A	p.Pro1477=	p.P1477=	ENST00000404826	NM_152744.3	1477	ccG/ccA	0	validated		synonymous	
BYSL		inserm.fr	GRCh37	6	41889478	41889478	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM269T																					ENST00000230340.4:c.178C>A	p.Gln60Lys	p.Q60K	ENST00000230340	NM_004053.3	60	Cag/Aag	0	validated		benign	
PDZRN4		inserm.fr	GRCh37	12	41900495	41900495	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000402685.2:c.1081C>A	p.Pro361Thr	p.P361T	ENST00000402685	NM_001164595.1	361	Cca/Aca	0	not done		possiblydamaging	
ACO2		inserm.fr	GRCh37	22	41904032	41904032	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000216254.4:c.411G>A	p.Glu137=	p.E137=	ENST00000216254	NM_001098.2	137	gaG/gaA	0	not done		synonymous	
ACO2		inserm.fr	GRCh37	22	41920946	41920946	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC218T																					ENST00000216254.4:c.1579C>A	p.Pro527Thr	p.P527T	ENST00000216254	NM_001098.2	527	Ccg/Acg	0	validated		probablydamaging	
FBXO4		inserm.fr	GRCh37	5	41927273	41927273	+	synonymous_variant	Silent	SNP	G	A	A			CHC258T																					ENST00000281623.3:c.348G>A	p.Lys116=	p.K116=	ENST00000281623	NM_012176.2	116	aaG/aaA	0	validated		synonymous	
CD300LG		inserm.fr	GRCh37	17	41939196	41939196	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000317310.4:c.916G>A	p.Ala306Thr	p.A306T	ENST00000317310	NM_145273.3	306	Gcc/Acc	0	not done		benign	
PDZRN4		inserm.fr	GRCh37	12	41946474	41946474	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC097T																					ENST00000402685.2:c.1220G>A	p.Arg407His	p.R407H	ENST00000402685	NM_001164595.1	407	cGt/cAt	0	not done		probablydamaging	
MPP2		inserm.fr	GRCh37	17	41958680	41958680	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000269095.4:c.851C>T	p.Pro284Leu	p.P284L	ENST00000269095	NM_001278374.1	284	cCc/cTc	0	not done		probablydamaging	
PDZRN4		inserm.fr	GRCh37	12	41966391	41966391	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000402685.2:c.1810G>A	p.Glu604Lys	p.E604K	ENST00000402685	NM_001164595.1	604	Gag/Aag	0	not done		benign	
HIVEP3		inserm.fr	GRCh37	1	41976662	41976662	+	synonymous_variant	Silent	SNP	C	A	A			CHC097T																					ENST00000372583.1:c.6681G>T	p.Gly2227=	p.G2227=	ENST00000372583	NM_024503.4	2227	ggG/ggT	0	not done		synonymous	
GLI3		inserm.fr	GRCh37	7	42005276	42005276	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000395925.3:c.3395C>T	p.Pro1132Leu	p.P1132L	ENST00000395925	NM_000168.5	1132	cCc/cTc	0	not done		benign	
GLI3		inserm.fr	GRCh37	7	42012082	42012082	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000395925.3:c.1957C>T	p.Pro653Ser	p.P653S	ENST00000395925	NM_000168.5	653	Ccg/Tcg	0	not done		benign	
AP3M2		inserm.fr	GRCh37	8	42012291	42012291	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000518421.1:c.86G>A	p.Cys29Tyr	p.C29Y	ENST00000518421	NM_001134296.1	29	tGt/tAt	0	not done		possiblydamaging	
ADRA1D		inserm.fr	GRCh37	20	4202228	4202228	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000379453.4:c.1661C>T	p.Ala554Val	p.A554V	ENST00000379453	NM_000678.3	554	gCc/gTc	0	not done		benign	
HIVEP3		inserm.fr	GRCh37	1	42046512	42046512	+	synonymous_variant	Silent	SNP	C	A	A			BCM683T																					ENST00000372583.1:c.3957G>T	p.Val1319=	p.V1319=	ENST00000372583	NM_024503.4	1319	gtG/gtT	0	validated		synonymous	
ANKRD24		inserm.fr	GRCh37	19	4207247	4207247	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000600132.1:c.475G>A	p.Gly159Ser	p.G159S	ENST00000600132	NM_133475.1	159	Ggc/Agc	0	not done		probablydamaging	
C6orf132		inserm.fr	GRCh37	6	42073513	42073513	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000341865.4:c.2137C>T	p.Pro713Ser	p.P713S	ENST00000341865	NM_001164446.1	713	Cca/Tca	0	not done			
OTOP1		inserm.fr	GRCh37	4	4207808	4207808	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM371T																					ENST00000296358.4:c.590C>T	p.Thr197Ile	p.T197I	ENST00000296358	NM_177998.1	197	aCa/aTa	0	validated		benign	
CEACAM21		inserm.fr	GRCh37	19	42083718	42083718	+	synonymous_variant	Silent	SNP	G	A	A			CHC361TA																					ENST00000401445.2:c.231G>A	p.Gln77=	p.Q77=	ENST00000401445		77	caG/caA	0	validated		synonymous	
CEACAM21		inserm.fr	GRCh37	19	42085959	42085959	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000401445.2:c.678C>A	p.Asp226Glu	p.D226E	ENST00000401445		226	gaC/gaA	0	not done		probablydamaging	
MAPKBP1		inserm.fr	GRCh37	15	42106767	42106767	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000456763.2:c.1018G>A	p.Ala340Thr	p.A340T	ENST00000456763	NM_001128608.1	340	Gcg/Acg	0	not done		benign	
MAPKBP1		inserm.fr	GRCh37	15	42109850	42109850	+	synonymous_variant	Silent	SNP	G	A	A			CHC2362T																					ENST00000456763.2:c.1839G>A	p.Val613=	p.V613=	ENST00000456763	NM_001128608.1	613	gtG/gtA	0	validated		synonymous	
BEND4		inserm.fr	GRCh37	4	42119706	42119706	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000502486.1:c.1434C>T	p.Pro478=	p.P478=	ENST00000502486	NM_207406.3	478	ccC/ccT	0	not done		synonymous	
BEND4		inserm.fr	GRCh37	4	42122270	42122270	+	synonymous_variant	Silent	SNP	C	A	A			CHC1743T																					ENST00000502486.1:c.1188G>T	p.Thr396=	p.T396=	ENST00000502486	NM_207406.3	396	acG/acT	0	not done		synonymous	
CEACAM4		inserm.fr	GRCh37	19	42132012	42132012	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000221954.2:c.387C>T	p.Tyr129=	p.Y129=	ENST00000221954	NM_001817.2	129	taC/taT	0	not done		synonymous	
PLA2G4B		inserm.fr	GRCh37	15	42135907	42135907	+	synonymous_variant	Silent	SNP	G	A	A			CHC1531T																					ENST00000382448.4:c.1470G>A	p.Gly490=	p.G490=	ENST00000382448		490	ggG/ggA	0	not done		synonymous	
MEI1		inserm.fr	GRCh37	22	42141021	42141021	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000401548.3:c.1491G>A	p.Arg497=	p.R497=	ENST00000401548	NM_152513.3	497	agG/agA	0	not done		synonymous	
SPTBN5		inserm.fr	GRCh37	15	42145839	42145839	+	synonymous_variant	Silent	SNP	G	A	A			BCM703T																					ENST00000320955.6:c.9921C>T	p.Gly3307=	p.G3307=	ENST00000320955	NM_016642.3	3307	ggC/ggT	0	validated		synonymous	
SPTBN5		inserm.fr	GRCh37	15	42159174	42159174	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1775T																					ENST00000320955.6:c.6463A>T	p.Thr2155Ser	p.T2155S	ENST00000320955	NM_016642.3	2155	Acc/Tcc	0	validated		probablydamaging	
SGK2		inserm.fr	GRCh37	20	42195083	42195083	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM275T																					ENST00000341458.4:c.128T>A	p.Leu43His	p.L43H	ENST00000341458	NM_016276.3	43	cTc/cAc	0	validated		benign	
SGK2		inserm.fr	GRCh37	20	42196639	42196639	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000341458.4:c.408G>A	p.Glu136=	p.E136=	ENST00000341458	NM_016276.3	136	gaG/gaA	0	not done		damaging	
TRERF1		inserm.fr	GRCh37	6	42204032	42204032	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000372922.4:c.2977C>T	p.Pro993Ser	p.P993S	ENST00000372922	NM_033502.2	993	Ccc/Tcc	0	not done		benign	
DKK4		inserm.fr	GRCh37	8	42233278	42233278	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000220812.2:c.182C>T	p.Pro61Leu	p.P61L	ENST00000220812	NM_014420.2	61	cCg/cTg	0	not done		possiblydamaging	
TRERF1		inserm.fr	GRCh37	6	42237188	42237188	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000372922.4:c.141C>T	p.Ala47=	p.A47=	ENST00000372922	NM_033502.2	47	gcC/gcT	0	not done		synonymous	
ASB16		inserm.fr	GRCh37	17	42254423	42254423	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1601T																					ENST00000293414.1:c.887G>A	p.Cys296Tyr	p.C296Y	ENST00000293414	NM_080863.4	296	tGc/tAc	0	not done		possiblydamaging	
CEACAM6		inserm.fr	GRCh37	19	42260718	42260718	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000199764.6:c.275G>A	p.Gly92Glu	p.G92E	ENST00000199764	NM_002483.4	92	gGg/gAg	0	not done		probablydamaging	
CEACAM6		inserm.fr	GRCh37	19	42265217	42265217	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000199764.6:c.485C>A	p.Ala162Asp	p.A162D	ENST00000199764	NM_002483.4	162	gCt/gAt	0	not done		possiblydamaging	
CEACAM6		inserm.fr	GRCh37	19	42266017	42266017	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1044T																					ENST00000199764.6:c.844C>A	p.Gln282Lys	p.Q282K	ENST00000199764	NM_002483.4	282	Caa/Aaa	0	not done		possiblydamaging	
TMUB2		inserm.fr	GRCh37	17	42266445	42266445	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000587989.1:c.91G>A	p.Gly31Ser	p.G31S	ENST00000587989		31	Ggt/Agt	0	not done		probablydamaging	
SREBF2		inserm.fr	GRCh37	22	42271439	42271439	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000361204.4:c.1188G>A	p.Leu396=	p.L396=	ENST00000361204	NM_004599.3	396	ctG/ctA	0	not done		synonymous	
ATXN7L3		inserm.fr	GRCh37	17	42275436	42275436	+	start_lost	Translation_Start_Site	SNP	C	A	A			CHC469T																					ENST00000454077.2:c.3G>T	p.Met1?	p.M1?	ENST00000454077	NM_020218.1	1	atG/atT	0	validated		possiblydamaging	
PLA2G4E		inserm.fr	GRCh37	15	42278164	42278164	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000399518.3:c.2075C>T	p.Ser692Phe	p.S692F	ENST00000399518	NM_001206670.1	692	tCc/tTc	0	not done		benign	
OTOP1		inserm.fr	GRCh37	4	4228283	4228283	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1207T																					ENST00000296358.4:c.309G>T	p.Gln103His	p.Q103H	ENST00000296358	NM_177998.1	103	caG/caT	0	validated		probablydamaging	
OTOP1		inserm.fr	GRCh37	4	4228284	4228284	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1207T																					ENST00000296358.4:c.308A>T	p.Gln103Leu	p.Q103L	ENST00000296358	NM_177998.1	103	cAg/cTg	0	validated		probablydamaging	
ADRA1D		inserm.fr	GRCh37	20	4228768	4228768	+	synonymous_variant	Silent	SNP	C	A	A			CHC320T																					ENST00000379453.4:c.837G>T	p.Val279=	p.V279=	ENST00000379453	NM_000678.3	279	gtG/gtT	0	validated		synonymous	
UBTF		inserm.fr	GRCh37	17	42289038	42289038	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1708T																					ENST00000302904.4:c.983G>T	p.Cys328Phe	p.C328F	ENST00000302904		328	tGc/tTc	0	not done		probablydamaging	
ADRA1D		inserm.fr	GRCh37	20	4228967	4228967	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000379453.4:c.638C>T	p.Ala213Val	p.A213V	ENST00000379453	NM_000678.3	213	gCg/gTg	0	not done		probablydamaging	
SHISA8		inserm.fr	GRCh37	22	42310405	42310405	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000457093.1:c.166C>T	p.Gly56=	p.G56=	ENST00000457093	NM_001207020.1	56	ggC/ggT	0	not done		synonymous	
SHISA8		inserm.fr	GRCh37	22	42310534	42310534	+	synonymous_variant	Silent	SNP	G	A	A			CHC1624T																					ENST00000457093.1:c.37C>T	p.Pro13=	p.P13=	ENST00000457093	NM_001207020.1	13	ccC/ccT	0	validated		synonymous	
TNFRSF13C		inserm.fr	GRCh37	22	42322738	42322738	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000291232.3:c.40C>T	p.Pro14Ser	p.P14S	ENST00000291232	NM_052945.3	14	Cca/Tca	0	not done		benign	
MYBL2		inserm.fr	GRCh37	20	42328417	42328417	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000217026.4:c.684G>A	p.Trp228Ter	p.W228*	ENST00000217026	NM_002466.3	228	tgG/tgA	0	not done		damaging	
SLC4A1		inserm.fr	GRCh37	17	42328595	42328595	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262418.6:c.2587C>T	p.Leu863Phe	p.L863F	ENST00000262418	NM_000342.3	863	Ctc/Ttc	0	not done		probablydamaging	
SLC4A1		inserm.fr	GRCh37	17	42330712	42330712	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000262418.6:c.2085G>T	p.Lys695Asn	p.K695N	ENST00000262418	NM_000342.3	695	aaG/aaT	0	not done		possiblydamaging	
MYBL2		inserm.fr	GRCh37	20	42331396	42331396	+	synonymous_variant	Silent	SNP	G	A	A			CHC1611T																					ENST00000217026.4:c.1218G>A	p.Pro406=	p.P406=	ENST00000217026	NM_002466.3	406	ccG/ccA	0	not done		synonymous	
SLC4A1		inserm.fr	GRCh37	17	42337873	42337873	+	synonymous_variant	Silent	SNP	C	A	A			BCM371T																					ENST00000262418.6:c.384G>T	p.Leu128=	p.L128=	ENST00000262418	NM_000342.3	128	ctG/ctT	0	validated		synonymous	
MYBL2		inserm.fr	GRCh37	20	42344613	42344613	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC433T									Valid												ENST00000217026.4:c.1989G>A	p.Trp663Ter	p.W663*	ENST00000217026	NM_002466.3	663	tgG/tgA	0	validated		damaging	
LRFN5		inserm.fr	GRCh37	14	42356387	42356387	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC218T																					ENST00000298119.4:c.559C>A	p.Pro187Thr	p.P187T	ENST00000298119	NM_152447.3	187	Cct/Act	0	validated		possiblydamaging	
LRFN5		inserm.fr	GRCh37	14	42356524	42356524	+	synonymous_variant	Silent	SNP	T	A	A			BCM739T																					ENST00000298119.4:c.696T>A	p.Thr232=	p.T232=	ENST00000298119	NM_152447.3	232	acT/acA	0	validated		synonymous	
LRFN5		inserm.fr	GRCh37	14	42361163	42361163	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1052T																					ENST00000298119.4:c.2096C>A	p.Pro699Gln	p.P699Q	ENST00000298119	NM_152447.3	699	cCa/cAa	0	validated		benign	
EBI3		inserm.fr	GRCh37	19	4237074	4237074	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC884T																					ENST00000221847.5:c.679C>A	p.Leu227Met	p.L227M	ENST00000221847	NM_005755.2	227	Ctg/Atg	0	validated		benign	
ATP8A1		inserm.fr	GRCh37	4	42414942	42414942	+	synonymous_variant	Silent	SNP	G	A	A			CHC1053T																					ENST00000381668.5:c.3486C>T	p.Asp1162=	p.D1162=	ENST00000381668	NM_006095.2	1162	gaC/gaT	0	validated		synonymous	
GRN		inserm.fr	GRCh37	17	42428807	42428807	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000053867.3:c.912G>A	p.Trp304Ter	p.W304*	ENST00000053867	NM_002087.2	304	tgG/tgA	0	not done		damaging	
VWA8		inserm.fr	GRCh37	13	42457609	42457609	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000379310.3:c.994C>T	p.Pro332Ser	p.P332S	ENST00000379310	NM_015058.1	332	Cca/Tca	0	not done		benign	
RABAC1		inserm.fr	GRCh37	19	42461207	42461207	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM783T																					ENST00000222008.6:c.432G>T	p.Trp144Cys	p.W144C	ENST00000222008	NM_006423.2	144	tgG/tgT	0	validated		probablydamaging	
RABAC1		inserm.fr	GRCh37	19	42462520	42462520	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1731T																					ENST00000222008.6:c.285G>T	p.Met95Ile	p.M95I	ENST00000222008	NM_006423.2	95	atG/atT	0	not done		probablydamaging	
FAM109B		inserm.fr	GRCh37	22	42473985	42473985	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC433T									Valid												ENST00000321753.3:c.688T>A	p.Trp230Arg	p.W230R	ENST00000321753	NM_001002034.2	230	Tgg/Agg	0	validated		possiblydamaging	
ATP1A3		inserm.fr	GRCh37	19	42489295	42489295	+	synonymous_variant	Silent	SNP	G	A	A			CHC1055T																					ENST00000545399.1:c.807C>T	p.Val269=	p.V269=	ENST00000545399	NM_001256214.1	269	gtC/gtT	0	validated		synonymous	
ATP1A3		inserm.fr	GRCh37	19	42490367	42490367	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000545399.1:c.411C>T	p.Ile137=	p.I137=	ENST00000545399	NM_001256214.1	137	atC/atT	0	not done		synonymous	
ATP8A1		inserm.fr	GRCh37	4	42545969	42545969	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1763T																					ENST00000381668.5:c.1687C>T	p.Pro563Ser	p.P563S	ENST00000381668	NM_006095.2	563	Cca/Tca	0	not done		probablydamaging	
ATP8A1		inserm.fr	GRCh37	4	42553215	42553215	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	A	A			BCM325T																					ENST00000381668.5:c.1602A>T	p.Ser534=	p.S534=	ENST00000381668	NM_006095.2	534	tcA/tcT	0	validated		damaging	
GRIK5		inserm.fr	GRCh37	19	42563628	42563628	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1601T																					ENST00000262895.3:c.560C>T	p.Thr187Met	p.T187M	ENST00000262895	NM_002088.4	187	aCg/aTg	0	not done		probablydamaging	
GANC		inserm.fr	GRCh37	15	42570682	42570682	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000318010.8:c.95G>A	p.Arg32His	p.R32H	ENST00000318010	NM_198141.2	32	cGt/cAt	0	validated		probablydamaging	
VIPR1		inserm.fr	GRCh37	3	42573324	42573324	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000325123.4:c.881G>A	p.Trp294Ter	p.W294*	ENST00000325123	NM_001251885.1	294	tGg/tAg	0	not done		damaging	
ATP8A1		inserm.fr	GRCh37	4	42577716	42577716	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			BCM617T																					ENST00000381668.5:c.1129G>T	p.Asp377Tyr	p.D377Y	ENST00000381668	NM_006095.2	377	Gat/Tat	0	validated		probablydamaging	
ZNF574		inserm.fr	GRCh37	19	42583367	42583367	+	synonymous_variant	Silent	SNP	T	A	A			CHC1207T																					ENST00000600245.1:c.609T>A	p.Thr203=	p.T203=	ENST00000600245		203	acT/acA	0	not done		synonymous	
GANC		inserm.fr	GRCh37	15	42598762	42598762	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000318010.8:c.577G>A	p.Gly193Ser	p.G193S	ENST00000318010	NM_198141.2	193	Ggc/Agc	0	not done		probablydamaging	
TCF20		inserm.fr	GRCh37	22	42606592	42606592	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1180T																					ENST00000359486.3:c.4720G>T	p.Glu1574Ter	p.E1574*	ENST00000359486	NM_005650.2	1574	Gag/Tag	0	validated		damaging	
TCF20		inserm.fr	GRCh37	22	42607749	42607749	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC258T																					ENST00000359486.3:c.3563G>T	p.Cys1188Phe	p.C1188F	ENST00000359486	NM_005650.2	1188	tGt/tTt	0	validated		probablydamaging	
SDK1		inserm.fr	GRCh37	7	4260870	4260870	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000404826.2:c.5702-1G>A		p.X1901_splice	ENST00000404826	NM_152744.3			0	not done		damaging	
SDK1		inserm.fr	GRCh37	7	4260917	4260917	+	synonymous_variant	Silent	SNP	T	A	A			CHC2216T																					ENST00000404826.2:c.5748T>A	p.Ser1916=	p.S1916=	ENST00000404826	NM_152744.3	1916	tcT/tcA	0	not done		synonymous	
CHRNA6		inserm.fr	GRCh37	8	42611339	42611339	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000276410.2:c.1003C>T	p.His335Tyr	p.H335Y	ENST00000276410	NM_004198.3	335	Cac/Tac	0	not done		probablydamaging	
GANC		inserm.fr	GRCh37	15	42614136	42614136	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000318010.8:c.1211G>A	p.Gly404Asp	p.G404D	ENST00000318010	NM_198141.2	404	gGc/gAc	0	not done		benign	
GUCA2B		inserm.fr	GRCh37	1	42619126	42619126	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000372581.1:c.5G>A	p.Gly2Asp	p.G2D	ENST00000372581	NM_007102.2	2	gGc/gAc	0	not done		possiblydamaging	
CCDC94		inserm.fr	GRCh37	19	4262097	4262097	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC327T									Valid												ENST00000262962.7:c.694G>A	p.Ala232Thr	p.A232T	ENST00000262962	NM_018074.4	232	Gcc/Acc	0	validated		possiblydamaging	
UBR2		inserm.fr	GRCh37	6	42626452	42626452	+	synonymous_variant	Silent	SNP	G	A	A			CHC1205T																					ENST00000372899.1:c.3132G>A	p.Lys1044=	p.K1044=	ENST00000372899	NM_015255.2	1044	aaG/aaA	0	not done		synonymous	
NKTR		inserm.fr	GRCh37	3	42679353	42679353	+	synonymous_variant	Silent	SNP	T	A	A			BCM325T																					ENST00000232978.8:c.2157T>A	p.Ser719=	p.S719=	ENST00000232978	NM_005385.3	719	tcT/tcA	0	validated		synonymous	
TOX2		inserm.fr	GRCh37	20	42683010	42683010	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000341197.4:c.723G>A	p.Lys241=	p.K241=	ENST00000341197	NM_001098797.1	241	aaG/aaA	0	not done		synonymous	
ZBTB47		inserm.fr	GRCh37	3	42700697	42700697	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1736T																					ENST00000232974.6:c.850G>A	p.Glu284Lys	p.E284K	ENST00000232974		284	Gag/Aag	0	validated			
GHR		inserm.fr	GRCh37	5	42718572	42718572	+	synonymous_variant	Silent	SNP	G	A	A			CHC1603T																					ENST00000230882.4:c.963G>A	p.Glu321=	p.E321=	ENST00000230882	NM_001242406.2	321	gaG/gaA	0	not done		synonymous	
ZNF526		inserm.fr	GRCh37	19	42729328	42729328	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM783T																					ENST00000301215.3:c.773G>A	p.Gly258Asp	p.G258D	ENST00000301215	NM_133444.1	258	gGt/gAt	0	validated		benign	
KLHL40		inserm.fr	GRCh37	3	42729686	42729686	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1738T																					ENST00000287777.4:c.1205G>A	p.Arg402His	p.R402H	ENST00000287777	NM_152393.3	402	cGc/cAc	0	not done		probablydamaging	
C17orf104		inserm.fr	GRCh37	17	42744538	42744538	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1081T																					ENST00000409122.2:c.1259C>A	p.Ser420Ter	p.S420*	ENST00000409122	NM_001145080.2	420	tCa/tAa	0	validated		damaging	
JPH2		inserm.fr	GRCh37	20	42744940	42744940	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2200T																					ENST00000372980.3:c.1375G>T	p.Ala459Ser	p.A459S	ENST00000372980	NM_020433.4	459	Gca/Tca	0	not done		possiblydamaging	
GSK3A		inserm.fr	GRCh37	19	42747091	42747091	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000378108.1:c.89C>A	p.Ala30Asp	p.A30D	ENST00000378108		30	gCc/gAc	0	not done			
JPH2		inserm.fr	GRCh37	20	42747257	42747257	+	synonymous_variant	Silent	SNP	G	A	A			CHC1603T																					ENST00000372980.3:c.1176C>T	p.Ser392=	p.S392=	ENST00000372980	NM_020433.4	392	agC/agT	0	not done		synonymous	
ERF		inserm.fr	GRCh37	19	42753098	42753098	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1210T																					ENST00000222329.4:c.1166G>T	p.Arg389Leu	p.R389L	ENST00000222329	NM_006494.2	389	cGg/cTg	0	validated		possiblydamaging	
MX2		inserm.fr	GRCh37	21	42770919	42770919	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000330714.3:c.1245G>A	p.Glu415=	p.E415=	ENST00000330714	NM_002463.1	415	gaG/gaA	0	not done		synonymous	
JPH2		inserm.fr	GRCh37	20	42788283	42788283	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000372980.3:c.1144C>T	p.Gln382Ter	p.Q382*	ENST00000372980	NM_020433.4	382	Cag/Tag	0	not done		damaging	
JPH2		inserm.fr	GRCh37	20	42788401	42788401	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000372980.3:c.1026C>T	p.Arg342=	p.R342=	ENST00000372980	NM_020433.4	342	cgC/cgT	0	not done		synonymous	
CIC		inserm.fr	GRCh37	19	42795769	42795769	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1700T																					ENST00000575354.2:c.2758G>A	p.Gly920Arg	p.G920R	ENST00000575354	NM_015125.3	920	Ggg/Agg	0	not done		probablydamaging	
NFAM1		inserm.fr	GRCh37	22	42807578	42807578	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000329021.5:c.286C>T	p.Pro96Ser	p.P96S	ENST00000329021	NM_145912.5	96	Cca/Tca	0	not done		benign	
DBF4B		inserm.fr	GRCh37	17	42811492	42811492	+	synonymous_variant	Silent	SNP	G	A	A			CHC1629T																					ENST00000315005.3:c.591G>A	p.Ala197=	p.A197=	ENST00000315005	NM_145663.2	197	gcG/gcA	0	not done		synonymous	
MEGF8		inserm.fr	GRCh37	19	42839325	42839325	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC896T																					ENST00000334370.4:c.697G>A	p.Gly233Ser	p.G233S	ENST00000334370	NM_001410.2	233	Ggc/Agc	0	not done		probablydamaging	
MEGF8		inserm.fr	GRCh37	19	42839473	42839473	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000334370.4:c.764G>A	p.Gly255Asp	p.G255D	ENST00000334370	NM_001410.2	255	gGt/gAt	0	not done		probablydamaging	
ADAM11		inserm.fr	GRCh37	17	42854323	42854323	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000200557.6:c.1674G>A	p.Trp558Ter	p.W558*	ENST00000200557	NM_002390.4	558	tgG/tgA	0	not done		damaging	
MEGF8		inserm.fr	GRCh37	19	42861648	42861648	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000334370.4:c.4722G>A	p.Pro1574=	p.P1574=	ENST00000334370	NM_001410.2	1574	ccG/ccA	0	not done		synonymous	
MEGF8		inserm.fr	GRCh37	19	42862356	42862356	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000334370.4:c.4871G>A	p.Gly1624Glu	p.G1624E	ENST00000334370	NM_001410.2	1624	gGg/gAg	0	not done		probablydamaging	
PRICKLE1		inserm.fr	GRCh37	12	42866220	42866220	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000455697.1:c.99C>T	p.Tyr33=	p.Y33=	ENST00000455697	NM_001144883.1	33	taC/taT	0	not done		synonymous	
GJC1		inserm.fr	GRCh37	17	42882500	42882500	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000426548.1:c.686C>T	p.Thr229Ile	p.T229I	ENST00000426548	NM_001080383.1	229	aCc/aTc	0	not done		probablydamaging	
CNFN		inserm.fr	GRCh37	19	42891382	42891382	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1591T																					ENST00000222032.5:c.262C>T	p.His88Tyr	p.H88Y	ENST00000222032	NM_032488.3	88	Cac/Tac	0	not done		benign	
LIPE		inserm.fr	GRCh37	19	42914695	42914695	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000244289.4:c.1183G>T	p.Ala395Ser	p.A395S	ENST00000244289	NM_005357.2	395	Gcc/Tcc	0	not done		possiblydamaging	
ZMYND12		inserm.fr	GRCh37	1	42921559	42921559	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000372565.3:c.110G>T	p.Cys37Phe	p.C37F	ENST00000372565	NM_032257.4	37	tGt/tTt	0	not done		probablydamaging	
PSMA2		inserm.fr	GRCh37	7	42964393	42964393	+	synonymous_variant	Silent	SNP	C	A	A			CHC1626T																					ENST00000223321.4:c.255G>T	p.Val85=	p.V85=	ENST00000223321	NM_002787.4	85	gtG/gtT	0	not done		synonymous	
STARD9		inserm.fr	GRCh37	15	42979673	42979673	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000290607.7:c.5897G>A	p.Gly1966Asp	p.G1966D	ENST00000290607	NM_020759.2	1966	gGt/gAt	0	not done			
FAM187A		inserm.fr	GRCh37	17	42981587	42981587	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000331733.4:c.390G>A	p.Gly130=	p.G130=	ENST00000331733	NM_001258399.1	130	ggG/ggA	0	not done		synonymous	
STARD9		inserm.fr	GRCh37	15	42982191	42982191	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000290607.7:c.8415G>A	p.Gln2805=	p.Q2805=	ENST00000290607	NM_020759.2	2805	caG/caA	0	not done		synonymous	
KLHDC3		inserm.fr	GRCh37	6	42986199	42986199	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000326974.4:c.638G>A	p.Cys213Tyr	p.C213Y	ENST00000326974	NM_057161.3	213	tGc/tAc	0	not done		probablydamaging	
STARD9		inserm.fr	GRCh37	15	42986404	42986404	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000290607.7:c.12628G>A	p.Val4210Met	p.V4210M	ENST00000290607	NM_020759.2	4210	Gtg/Atg	0	not done			
CYB5R3		inserm.fr	GRCh37	22	43024265	43024265	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1597T																					ENST00000361740.4:c.455C>T	p.Pro152Leu	p.P152L	ENST00000361740	NM_001171660.1	152	cCc/cTc	0	not done		probablydamaging	
MRPL2		inserm.fr	GRCh37	6	43025950	43025950	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC2113T																					ENST00000388752.3:c.118C>T	p.Gln40Ter	p.Q40*	ENST00000388752	NM_015950.3	40	Caa/Taa	0	not done		damaging	
ANO9		inserm.fr	GRCh37	11	430330	430330	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000332826.6:c.613G>T	p.Ala205Ser	p.A205S	ENST00000332826	NM_001012302.2	205	Gcc/Tcc	0	validated		possiblydamaging	
ANO9		inserm.fr	GRCh37	11	430334	430334	+	synonymous_variant	Silent	SNP	C	A	A			CHC1148T																					ENST00000332826.6:c.609G>T	p.Pro203=	p.P203=	ENST00000332826	NM_001012302.2	203	ccG/ccT	0	validated		synonymous	
ANO9		inserm.fr	GRCh37	11	430334	430334	+	synonymous_variant	Silent	SNP	C	A	A			CHC1154T																					ENST00000332826.6:c.609G>T	p.Pro203=	p.P203=	ENST00000332826	NM_001012302.2	203	ccG/ccT	0	validated		synonymous	
HNF4A		inserm.fr	GRCh37	20	43034817	43034817	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2352T																					ENST00000316099.4:c.235G>A	p.Gly79Ser	p.G79S	ENST00000316099	NM_001258355.1	79	Ggc/Agc	0	not done		probablydamaging	
TTBK2		inserm.fr	GRCh37	15	43038197	43038197	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000267890.6:c.3531C>T	p.Asp1177=	p.D1177=	ENST00000267890	NM_173500.3	1177	gaC/gaT	0	not done		synonymous	
TTBK2		inserm.fr	GRCh37	15	43044588	43044588	+	synonymous_variant	Silent	SNP	T	A	A			BCB307T																					ENST00000267890.6:c.2856A>T	p.Ile952=	p.I952=	ENST00000267890	NM_173500.3	952	atA/atT	0	validated		synonymous	
HNF4A		inserm.fr	GRCh37	20	43048504	43048504	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC909T																					ENST00000316099.4:c.880T>A	p.Phe294Ile	p.F294I	ENST00000316099	NM_001258355.1	294	Ttc/Atc	0	not done		probablydamaging	
SDK1		inserm.fr	GRCh37	7	4304962	4304962	+	synonymous_variant	Silent	SNP	C	A	A			CHC1154T																					ENST00000404826.2:c.6588C>A	p.Thr2196=	p.T2196=	ENST00000404826	NM_152744.3	2196	acC/acA	0	not done		synonymous	
A4GALT		inserm.fr	GRCh37	22	43089416	43089416	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000401850.1:c.542C>T	p.Ala181Val	p.A181V	ENST00000401850		181	gCa/gTa	0	not done		probablydamaging	
PTK7		inserm.fr	GRCh37	6	43112990	43112990	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000481273.1:c.2484G>A	p.Glu828=	p.E828=	ENST00000481273	NM_001270398.1	828	gaG/gaA	0	not done		synonymous	
YBX1		inserm.fr	GRCh37	1	43162461	43162461	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000321358.7:c.503G>A	p.Gly168Glu	p.G168E	ENST00000321358	NM_004559.3	168	gGg/gAg	0	not done		benign	
ZNF131		inserm.fr	GRCh37	5	43174790	43174790	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000509634.1:c.1325G>A	p.Gly442Glu	p.G442E	ENST00000509634		442	gGg/gAg	0	not done		benign	
ZNF131		inserm.fr	GRCh37	5	43174803	43174803	+	synonymous_variant	Silent	SNP	G	A	A			CHC879T																					ENST00000509634.1:c.1338G>A	p.Val446=	p.V446=	ENST00000509634		446	gtG/gtA	0	not done		synonymous	
RIPK4		inserm.fr	GRCh37	21	43176838	43176838	+	synonymous_variant	Silent	SNP	C	A	A			CHC1065T																					ENST00000332512.3:c.321G>T	p.Leu107=	p.L107=	ENST00000332512	NM_020639.2	107	ctG/ctT	0	validated		synonymous	
CUL9		inserm.fr	GRCh37	6	43183913	43183913	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC253T																					ENST00000252050.4:c.5954C>A	p.Thr1985Asn	p.T1985N	ENST00000252050	NM_015089.2	1985	aCc/aAc	0	validated		benign	
POTEA		inserm.fr	GRCh37	8	43197391	43197391	+	non_coding_transcript_exon_variant	RNA	SNP	C	A	A			CHC1742T																					ENST00000519951.2:n.1282C>A		*428*	ENST00000519951				0	not done		probablydamaging	
SLC14A2		inserm.fr	GRCh37	18	43212400	43212400	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1205T																					ENST00000255226.6:c.607T>A	p.Tyr203Asn	p.Y203N	ENST00000255226	NM_007163.3	203	Tac/Aac	0	not done		probablydamaging	
LEPRE1		inserm.fr	GRCh37	1	43228063	43228063	+	synonymous_variant	Silent	SNP	T	A	A			CHC1191T																					ENST00000236040.4:c.549A>T	p.Leu183=	p.L183=	ENST00000236040	NM_001243246.1	183	ctA/ctT	0	not done		synonymous	
TTBK1		inserm.fr	GRCh37	6	43251068	43251068	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2128T																					ENST00000259750.4:c.2590G>A	p.Ala864Thr	p.A864T	ENST00000259750	NM_032538.1	864	Gcc/Acc	0	not done		benign	
SLC22A7		inserm.fr	GRCh37	6	43271894	43271894	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC801T																					ENST00000372585.5:c.1504G>A	p.Ala502Thr	p.A502T	ENST00000372585	NM_153320.2	502	Gcc/Acc	0	not done		benign	
PRDM15		inserm.fr	GRCh37	21	43274913	43274913	+	synonymous_variant	Silent	SNP	G	A	A			BCB307T																					ENST00000269844.3:c.1398C>T	p.Asp466=	p.D466=	ENST00000269844	NM_022115.3	466	gaC/gaT	0	validated		synonymous	
FMNL1		inserm.fr	GRCh37	17	43323960	43323960	+	synonymous_variant	Silent	SNP	C	A	A			CHC1205T																					ENST00000331495.3:c.3300C>A	p.Leu1100=	p.L1100=	ENST00000331495	NM_005892.3	1100	ctC/ctA	0	validated		synonymous	
C2CD2		inserm.fr	GRCh37	21	43339046	43339046	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB231T																					ENST00000380486.3:c.516G>T	p.Lys172Asn	p.K172N	ENST00000380486	NM_015500.1	172	aaG/aaT	0	validated		possiblydamaging	
HECW1		inserm.fr	GRCh37	7	43351607	43351607	+	synonymous_variant	Silent	SNP	G	A	A			CHC1720T																					ENST00000395891.2:c.273G>A	p.Gly91=	p.G91=	ENST00000395891	NM_015052.3	91	ggG/ggA	0	not done		synonymous	
WISP2		inserm.fr	GRCh37	20	43353603	43353603	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1743T																					ENST00000372868.2:c.502G>A	p.Gly168Arg	p.G168R	ENST00000372868		168	Gga/Aga	0	not done		benign	
KCNK15		inserm.fr	GRCh37	20	43378826	43378826	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM791T																					ENST00000372861.3:c.340G>A	p.Ala114Thr	p.A114T	ENST00000372861	NM_022358.3	114	Gcg/Acg	0	validated		probablydamaging	
ABCC10		inserm.fr	GRCh37	6	43412630	43412630	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000372530.4:c.2794G>A	p.Gly932Arg	p.G932R	ENST00000372530	NM_001198934.1	932	Ggg/Agg	0	not done		possiblydamaging	
TTC17		inserm.fr	GRCh37	11	43413382	43413382	+	synonymous_variant	Silent	SNP	G	A	A			CHC313T																					ENST00000039989.4:c.543G>A	p.Glu181=	p.E181=	ENST00000039989	NM_018259.5	181	gaG/gaA	0	validated		synonymous	
ZBTB21		inserm.fr	GRCh37	21	43414035	43414035	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB167T																					ENST00000310826.5:c.170G>T	p.Ser57Ile	p.S57I	ENST00000310826	NM_001098402.1	57	aGt/aTt	0	validated		probablydamaging	
SIGLEC15		inserm.fr	GRCh37	18	43417683	43417683	+	synonymous_variant	Silent	SNP	G	A	A			BCB231T																					ENST00000389474.3:c.318G>A	p.Thr106=	p.T106=	ENST00000389474	NM_213602.2	106	acG/acA	0	validated		synonymous	
EPG5		inserm.fr	GRCh37	18	43438671	43438671	+	synonymous_variant	Silent	SNP	G	A	A			CHC2048T																					ENST00000282041.5:c.7086C>T	p.Phe2362=	p.F2362=	ENST00000282041	NM_020964.2	2362	ttC/ttT	0	not done		synonymous	
EPG5		inserm.fr	GRCh37	18	43450595	43450595	+	synonymous_variant	Silent	SNP	C	A	A			CHC451T																					ENST00000282041.5:c.6162G>T	p.Thr2054=	p.T2054=	ENST00000282041	NM_020964.2	2054	acG/acT	0	not done		synonymous	
HECW1		inserm.fr	GRCh37	7	43483982	43483982	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2098T																					ENST00000395891.2:c.1211G>A	p.Gly404Asp	p.G404D	ENST00000395891	NM_015052.3	404	gGt/gAt	0	not done		benign	
SPNS3		inserm.fr	GRCh37	17	4348409	4348409	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC301T																					ENST00000355530.2:c.348C>A	p.Phe116Leu	p.F116L	ENST00000355530	NM_182538.4	116	ttC/ttA	0	validated		benign	
HECW1		inserm.fr	GRCh37	7	43484700	43484700	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000395891.2:c.1929C>A	p.Gly643=	p.G643=	ENST00000395891	NM_015052.3	643	ggC/ggA	0	not done		synonymous	
HECW1		inserm.fr	GRCh37	7	43484922	43484922	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000395891.2:c.2151G>A	p.Thr717=	p.T717=	ENST00000395891	NM_015052.3	717	acG/acA	0	not done		synonymous	
AHRR		inserm.fr	GRCh37	5	434849	434849	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000316418.5:c.2060G>A	p.Trp687Ter	p.W687*	ENST00000316418	NM_020731.4	687	tGg/tAg	0	not done		damaging	
POLR1C		inserm.fr	GRCh37	6	43485051	43485051	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000372389.3:c.77C>A	p.Thr26Asn	p.T26N	ENST00000372389	NM_203290.2	26	aCt/aAt	0	not done		probablydamaging	
HECW1		inserm.fr	GRCh37	7	43490453	43490453	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1915T																					ENST00000395891.2:c.2425C>A	p.Gln809Lys	p.Q809K	ENST00000395891	NM_015052.3	809	Cag/Aag	0	validated		benign	
EPB42		inserm.fr	GRCh37	15	43495420	43495420	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1624T																					ENST00000300215.3:c.1762G>T	p.Glu588Ter	p.E588*	ENST00000300215		588	Gag/Tag	0	validated		damaging	
EPB42		inserm.fr	GRCh37	15	43500451	43500451	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000300215.3:c.1142C>T	p.Pro381Leu	p.P381L	ENST00000300215		381	cCa/cTa	0	not done		possiblydamaging	
EPB42		inserm.fr	GRCh37	15	43500484	43500484	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000300215.3:c.1109C>T	p.Pro370Leu	p.P370L	ENST00000300215		370	cCc/cTc	0	not done		benign	
HECW1		inserm.fr	GRCh37	7	43508689	43508689	+	synonymous_variant	Silent	SNP	G	A	A			CHC1754T																					ENST00000395891.2:c.3084G>A	p.Thr1028=	p.T1028=	ENST00000395891	NM_015052.3	1028	acG/acA	0	not done		synonymous	
EPB42		inserm.fr	GRCh37	15	43512966	43512966	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000300215.3:c.58C>T	p.Pro20Ser	p.P20S	ENST00000300215		20	Ccc/Tcc	0	not done			
UMODL1		inserm.fr	GRCh37	21	43531219	43531219	+	synonymous_variant	Silent	SNP	C	A	A			CHC1083T																					ENST00000408989.2:c.1887C>A	p.Gly629=	p.G629=	ENST00000408989	NM_173568.3	629	ggC/ggA	0	validated		synonymous	
EPG5		inserm.fr	GRCh37	18	43535215	43535215	+	synonymous_variant	Silent	SNP	T	A	A			CHC301T																					ENST00000282041.5:c.153A>T	p.Leu51=	p.L51=	ENST00000282041	NM_020964.2	51	ctA/ctT	0	validated		synonymous	
UMODL1		inserm.fr	GRCh37	21	43547320	43547320	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000408989.2:c.3882G>A	p.Arg1294=	p.R1294=	ENST00000408989	NM_173568.3	1294	cgG/cgA	0	not done		synonymous	
PABPC1L		inserm.fr	GRCh37	20	43547602	43547602	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000255136.3:c.559G>A	p.Ala187Thr	p.A187T	ENST00000255136	NM_001124756.1	187	Gcc/Acc	0	not done		benign	
UMODL1		inserm.fr	GRCh37	21	43547925	43547925	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000408989.2:c.4058G>A	p.Gly1353Glu	p.G1353E	ENST00000408989	NM_173568.3	1353	gGa/gAa	0	not done		possiblydamaging	
HECW1		inserm.fr	GRCh37	7	43591911	43591911	+	synonymous_variant	Silent	SNP	C	A	A			CHC1754T																					ENST00000395891.2:c.4486C>A	p.Arg1496=	p.R1496=	ENST00000395891	NM_015052.3	1496	Cgg/Agg	0	not done		synonymous	
ZNF721		inserm.fr	GRCh37	4	435936	435936	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM723T									Valid												ENST00000511833.2:c.2320A>T	p.Ile774Phe	p.I774F	ENST00000511833	NM_133474.3	774	Att/Ttt	0	validated		possiblydamaging	
RET		inserm.fr	GRCh37	10	43595943	43595943	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC2098T																					ENST00000355710.3:c.110G>A	p.Trp37Ter	p.W37*	ENST00000355710	NM_020975.4	37	tGg/tAg	0	not done		damaging	
SCUBE1		inserm.fr	GRCh37	22	43614457	43614457	+	synonymous_variant	Silent	SNP	G	A	A			CHC1556T																					ENST00000360835.4:c.1695C>T	p.Cys565=	p.C565=	ENST00000360835	NM_173050.3	565	tgC/tgT	0	not done		synonymous	
RET		inserm.fr	GRCh37	10	43615075	43615075	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1708T																					ENST00000355710.3:c.2489G>A	p.Gly830Glu	p.G830E	ENST00000355710	NM_020975.4	830	gGa/gAa	0	not done		benign	
STK4		inserm.fr	GRCh37	20	43623818	43623818	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T									Valid												ENST00000372806.3:c.613G>A	p.Ala205Thr	p.A205T	ENST00000372806	NM_006282.2	205	Gca/Aca	0	validated		probablydamaging	
NNT		inserm.fr	GRCh37	5	43624177	43624177	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000264663.5:c.731G>A	p.Gly244Asp	p.G244D	ENST00000264663	NM_012343.3	244	gGc/gAc	0	not done		possiblydamaging	
RSPH9		inserm.fr	GRCh37	6	43624363	43624363	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000372165.4:c.528G>A	p.Arg176=	p.R176=	ENST00000372165	NM_001193341.1	176	agG/agA	0	not done		synonymous	
SH3GL1		inserm.fr	GRCh37	19	4362711	4362711	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC218T																					ENST00000269886.3:c.751C>T	p.Pro251Ser	p.P251S	ENST00000269886	NM_003025.3	251	Cct/Tct	0	validated		benign	
MAOB		inserm.fr	GRCh37	X	43634507	43634507	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1061T									Valid												ENST00000378069.4:c.1150G>T	p.Glu384Ter	p.E384*	ENST00000378069	NM_000898.4	384	Gaa/Taa	0	validated		damaging	
ZSCAN29		inserm.fr	GRCh37	15	43653486	43653486	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1741T																					ENST00000396976.2:c.2344A>T	p.Arg782Trp	p.R782W	ENST00000396976	NM_152455.3	782	Agg/Tgg	0	not done		probablydamaging	
ABCG1		inserm.fr	GRCh37	21	43691225	43691225	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000361802.2:c.332G>A	p.Gly111Asp	p.G111D	ENST00000361802	NM_004915.3	111	gGt/gAt	0	not done		benign	
RASGEF1A		inserm.fr	GRCh37	10	43701473	43701473	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000395809.1:c.92C>T	p.Ala31Val	p.A31V	ENST00000395809		31	gCc/gTc	0	not done		benign	
TP53BP1		inserm.fr	GRCh37	15	43714325	43714325	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC1626T																					ENST00000382044.4:c.3829-1G>T		p.X1277_splice	ENST00000382044	NM_001141980.1			0	not done		possiblydamaging	
KCNS1		inserm.fr	GRCh37	20	43727104	43727104	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000306117.1:c.309C>T	p.Tyr103=	p.Y103=	ENST00000306117	NM_002251.3	103	taC/taT	0	not done		synonymous	
TFF3		inserm.fr	GRCh37	21	43733635	43733635	+	synonymous_variant	Silent	SNP	G	A	A			CHC1186T																					ENST00000518498.1:c.231C>T	p.Ile77=	p.I77=	ENST00000518498		77	atC/atT	0	validated		synonymous	
ABHD5		inserm.fr	GRCh37	3	43743764	43743764	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC205T									Valid												ENST00000458276.2:c.191G>A	p.Trp64Ter	p.W64*	ENST00000458276	NM_016006.4	64	tGg/tAg	0	validated		damaging	
TP53BP1		inserm.fr	GRCh37	15	43748744	43748744	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM371T									Valid												ENST00000382044.4:c.2062A>T	p.Asn688Tyr	p.N688Y	ENST00000382044	NM_001141980.1	688	Aat/Tat	0	validated		possiblydamaging	
TFF2		inserm.fr	GRCh37	21	43770135	43770135	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000291526.4:c.84C>T	p.Pro28=	p.P28=	ENST00000291526	NM_005423.4	28	ccC/ccT	0	not done		synonymous	
THADA		inserm.fr	GRCh37	2	43779021	43779021	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC434T									Valid												ENST00000405006.4:c.2854C>T	p.Leu952Phe	p.L952F	ENST00000405006	NM_001083953.1	952	Ctc/Ttc	0	validated		probablydamaging	
TFF1		inserm.fr	GRCh37	21	43783510	43783510	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1700T																					ENST00000291527.2:c.92G>T	p.Cys31Phe	p.C31F	ENST00000291527	NM_003225.2	31	tGt/tTt	0	not done		probablydamaging	
TMPRSS3		inserm.fr	GRCh37	21	43795962	43795962	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000291532.3:c.1210C>T	p.Pro404Ser	p.P404S	ENST00000291532	NM_032404.2	404	Ccc/Tcc	0	not done		probablydamaging	
TMPRSS3		inserm.fr	GRCh37	21	43802193	43802193	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000291532.3:c.933C>T	p.Ala311=	p.A311=	ENST00000291532	NM_032404.2	311	gcC/gcT	0	not done		synonymous	
MAP1A		inserm.fr	GRCh37	15	43818081	43818081	+	synonymous_variant	Silent	SNP	C	A	A			CHC1052T																					ENST00000300231.5:c.4410C>A	p.Ala1470=	p.A1470=	ENST00000300231		1470	gcC/gcA	0	validated		synonymous	
MAP1A		inserm.fr	GRCh37	15	43818760	43818760	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2208T																					ENST00000300231.5:c.5089T>A	p.Trp1697Arg	p.W1697R	ENST00000300231		1697	Tgg/Agg	0	not done		probablydamaging	
MAP1A		inserm.fr	GRCh37	15	43821043	43821043	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2351T																					ENST00000300231.5:c.7372C>A	p.Pro2458Thr	p.P2458T	ENST00000300231		2458	Ccc/Acc	0	not done		benign	
PPIP5K1		inserm.fr	GRCh37	15	43826995	43826995	+	synonymous_variant	Silent	SNP	C	A	A			CHC2052T																					ENST00000420765.1:c.4179G>T	p.Leu1393=	p.L1393=	ENST00000420765	NM_001130858.2	1393	ctG/ctT	0	not done		synonymous	
PPIP5K1		inserm.fr	GRCh37	15	43827164	43827164	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC465T																					ENST00000420765.1:c.4010A>T	p.Gln1337Leu	p.Q1337L	ENST00000420765	NM_001130858.2	1337	cAg/cTg	0	validated		benign	
UBASH3A		inserm.fr	GRCh37	21	43833332	43833332	+	splice_donor_variant	Splice_Site	SNP	G	A	A			BCM265T									Valid												ENST00000319294.6:c.553+1G>A		p.X185_splice	ENST00000319294	NM_018961.3			0	validated		damaging	
UBASH3A		inserm.fr	GRCh37	21	43846848	43846848	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000319294.6:c.1089G>A	p.Lys363=	p.K363=	ENST00000319294	NM_018961.3	363	aaG/aaA	0	not done		synonymous	
UBASH3A		inserm.fr	GRCh37	21	43846858	43846858	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1040T																					ENST00000319294.6:c.1099G>A	p.Ala367Thr	p.A367T	ENST00000319294	NM_018961.3	367	Gcc/Acc	0	not done		possiblydamaging	
SEMG2		inserm.fr	GRCh37	20	43851368	43851368	+	synonymous_variant	Silent	SNP	C	A	A			CHC1717T																					ENST00000372769.3:c.1095C>A	p.Ile365=	p.I365=	ENST00000372769	NM_003008.2	365	atC/atA	0	not done		synonymous	
CD177		inserm.fr	GRCh37	19	43859873	43859873	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	C	A	A			CHC314T									Valid												ENST00000457794.2:c.*148C>A		*50*	ENST00000457794				0	validated		possiblydamaging	
CNTNAP3B		inserm.fr	GRCh37	9	43861160	43861160	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000377564.3:c.2034G>A	p.Gln678=	p.Q678=	ENST00000377564	NM_001201380.1	678	caG/caA	0	not done		synonymous	
ADAMTS20		inserm.fr	GRCh37	12	43862407	43862407	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC301T									Valid												ENST00000389420.3:c.1219C>T	p.His407Tyr	p.H407Y	ENST00000389420	NM_025003.3	407	Cac/Tac	0	validated		probablydamaging	
MPPED1		inserm.fr	GRCh37	22	43870623	43870623	+	synonymous_variant	Silent	SNP	G	A	A			CHC793T																					ENST00000417669.2:c.414G>A	p.Leu138=	p.L138=	ENST00000417669		138	ctG/ctA	0	validated		synonymous	
D4S234E		inserm.fr	GRCh37	4	4389370	4389370	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1763T																					ENST00000421177.2:c.14G>A	p.Gly5Glu	p.G5E	ENST00000421177		5	gGg/gAg	0	not done		probablydamaging	
SZT2		inserm.fr	GRCh37	1	43907023	43907023	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB307T																					ENST00000562955.1:c.7312G>A	p.Gly2438Ser	p.G2438S	ENST00000562955	NM_015284.3	2438	Ggc/Agc	0	validated		benign	
SZT2		inserm.fr	GRCh37	1	43908274	43908274	+	synonymous_variant	Silent	SNP	C	A	A			CHC1775T																					ENST00000562955.1:c.7965C>A	p.Pro2655=	p.P2655=	ENST00000562955	NM_015284.3	2655	ccC/ccA	0	validated		synonymous	
SZT2		inserm.fr	GRCh37	1	43908639	43908639	+	synonymous_variant	Silent	SNP	C	A	A			BCM617T																					ENST00000562955.1:c.8130C>A	p.Ala2710=	p.A2710=	ENST00000562955	NM_015284.3	2710	gcC/gcA	0	validated		synonymous	
MRPS24		inserm.fr	GRCh37	7	43909089	43909089	+	synonymous_variant	Silent	SNP	C	A	A			CHC434T																					ENST00000317534.5:c.6G>T	p.Ala2=	p.A2=	ENST00000317534	NM_032014.2	2	gcG/gcT	0	validated		synonymous	
URGCP		inserm.fr	GRCh37	7	43916592	43916592	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000453200.1:c.2470G>T	p.Asp824Tyr	p.D824Y	ENST00000453200		824	Gat/Tat	0	not done		possiblydamaging	
URGCP		inserm.fr	GRCh37	7	43917607	43917607	+	synonymous_variant	Silent	SNP	G	A	A			BCM339T																					ENST00000453200.1:c.1455C>T	p.Asp485=	p.D485=	ENST00000453200		485	gaC/gaT	0	validated		synonymous	
ADAMTS20		inserm.fr	GRCh37	12	43925955	43925955	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000389420.3:c.497C>T	p.Pro166Leu	p.P166L	ENST00000389420	NM_025003.3	166	cCt/cTt	0	not done		probablydamaging	
MATN4		inserm.fr	GRCh37	20	43926830	43926830	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1746T																					ENST00000537548.1:c.1406C>T	p.Ala469Val	p.A469V	ENST00000537548	NM_003833.4	469	gCa/gTa	0	not done		probablydamaging	
EFCAB6		inserm.fr	GRCh37	22	43933267	43933267	+	synonymous_variant	Silent	SNP	G	A	A			CHC205T																					ENST00000262726.7:c.4038C>T	p.Ser1346=	p.S1346=	ENST00000262726	NM_022785.3	1346	tcC/tcT	0	validated		synonymous	
MATN4		inserm.fr	GRCh37	20	43933268	43933268	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1915T									Valid												ENST00000537548.1:c.243A>T	p.Gln81His	p.Q81H	ENST00000537548	NM_003833.4	81	caA/caT	0	validated		probablydamaging	
ADAMTS20		inserm.fr	GRCh37	12	43945667	43945667	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC433T																					ENST00000389420.3:c.58A>T	p.Arg20Trp	p.R20W	ENST00000389420	NM_025003.3	20	Agg/Tgg	0	validated		probablydamaging	
AG2		inserm.fr	GRCh37	11	43964142	43964142	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000339446.3:c.627G>A	p.Trp209Ter	p.W209*	ENST00000339446		209	tgG/tgA	0	not done		damaging	
PLEKHH2		inserm.fr	GRCh37	2	43973011	43973011	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC912T									Valid												ENST00000282406.4:c.3562G>A	p.Asp1188Asn	p.D1188N	ENST00000282406	NM_172069.3	1188	Gac/Aac	0	validated		probablydamaging	
SYS1		inserm.fr	GRCh37	20	43995703	43995703	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC912T									Valid												ENST00000243918.5:c.419G>A	p.Arg140Gln	p.R140Q	ENST00000243918	NM_033542.3	140	cGg/cAg	0	validated		possiblydamaging	
PHLDB3		inserm.fr	GRCh37	19	44008195	44008195	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1568T																					ENST00000292140.5:c.76C>T	p.Gln26Ter	p.Q26*	ENST00000292140	NM_198850.3	26	Cag/Tag	0	not done		damaging	
ZNF575		inserm.fr	GRCh37	19	44039830	44039830	+	synonymous_variant	Silent	SNP	G	A	A			CHC1775T																					ENST00000314228.5:c.729G>A	p.Glu243=	p.E243=	ENST00000314228	NM_174945.2	243	gaG/gaA	0	validated		synonymous	
PDIA3		inserm.fr	GRCh37	15	44053632	44053632	+	synonymous_variant	Silent	SNP	C	A	A			CHC2052T																					ENST00000300289.5:c.375C>A	p.Val125=	p.V125=	ENST00000300289	NM_005313.4	125	gtC/gtA	0	not done		synonymous	
PIGT		inserm.fr	GRCh37	20	44054305	44054305	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1598T																					ENST00000279036.6:c.1576T>A	p.Tyr526Asn	p.Y526N	ENST00000279036	NM_015937.5	526	Tac/Aac	0	not done		probablydamaging	
ABCG5		inserm.fr	GRCh37	2	44059136	44059136	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2200T																					ENST00000260645.1:c.352C>T	p.Arg118Trp	p.R118W	ENST00000260645	NM_022436.2	118	Cgg/Tgg	0	not done		probablydamaging	
ABCG5		inserm.fr	GRCh37	2	44059179	44059179	+	synonymous_variant	Silent	SNP	C	A	A			CHC614T																					ENST00000260645.1:c.309G>T	p.Leu103=	p.L103=	ENST00000260645	NM_022436.2	103	ctG/ctT	0	validated		synonymous	
MAPT		inserm.fr	GRCh37	17	44061110	44061110	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000344290.5:c.940G>A	p.Glu314Lys	p.E314K	ENST00000344290	NM_001123066.3	314	Gag/Aag	0	not done		possiblydamaging	
PTPRF		inserm.fr	GRCh37	1	44063501	44063501	+	synonymous_variant	Silent	SNP	C	A	A			CHC301T																					ENST00000359947.4:c.1896C>A	p.Ala632=	p.A632=	ENST00000359947	NM_002840.3	632	gcC/gcA	0	validated		synonymous	
TRIM21		inserm.fr	GRCh37	11	4406703	4406703	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1602T																					ENST00000254436.7:c.1240G>T	p.Glu414Ter	p.E414*	ENST00000254436	NM_003141.3	414	Gag/Tag	0	not done		damaging	
SERF2		inserm.fr	GRCh37	15	44085276	44085276	+	synonymous_variant	Silent	SNP	G	A	A			CHC1720T																					ENST00000409960.2:c.111G>A	p.Lys37=	p.K37=	ENST00000409960	NM_001199875.1	37	aaG/aaA	0	not done		synonymous	
PTPRF		inserm.fr	GRCh37	1	44086508	44086508	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000359947.4:c.5365-1G>A		p.X1789_splice	ENST00000359947	NM_002840.3			0	not done		damaging	
LOXHD1		inserm.fr	GRCh37	18	44087631	44087631	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000300591.6:c.2229C>T	p.Tyr743=	p.Y743=	ENST00000300591	NM_001145472.2	743	taC/taT	0	not done		synonymous	
EFHC2		inserm.fr	GRCh37	X	44091825	44091825	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000420999.1:c.1522C>T	p.Leu508=	p.L508=	ENST00000420999	NM_025184.3	508	Ctg/Ttg	0	not done		synonymous	
IRGQ		inserm.fr	GRCh37	19	44096313	44096313	+	synonymous_variant	Silent	SNP	G	A	A			BCM567T																					ENST00000422989.1:c.1737C>T	p.Phe579=	p.F579=	ENST00000422989	NM_001007561.2	579	ttC/ttT	0	validated		synonymous	
WFDC2		inserm.fr	GRCh37	20	44099058	44099058	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000372676.3:c.109C>A	p.Pro37Thr	p.P37T	ENST00000372676	NM_006103.3	37	Ccc/Acc	0	not done		probablydamaging	
CORO7		inserm.fr	GRCh37	16	4410456	4410456	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1186T																					ENST00000251166.4:c.2011G>T	p.Glu671Ter	p.E671*	ENST00000251166	NM_024535.4	671	Gag/Tag	0	not done		damaging	
POLM		inserm.fr	GRCh37	7	44116189	44116189	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T									Valid												ENST00000242248.5:c.754G>T	p.Asp252Tyr	p.D252Y	ENST00000242248	NM_013284.2	252	Gac/Tac	0	validated		probablydamaging	
SRRM5		inserm.fr	GRCh37	19	44118338	44118338	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1211T																					ENST00000607544.1:c.2065G>A	p.Asp689Asn	p.D689N	ENST00000607544		689	Gat/Aat	0	not done		possiblydamaging	
CAPN11		inserm.fr	GRCh37	6	44126595	44126595	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1725T																					ENST00000398776.1:c.10T>A	p.Ser4Thr	p.S4T	ENST00000398776	NM_007058.3	4	Tcc/Acc	0	not done		possiblydamaging	
LOXHD1		inserm.fr	GRCh37	18	44126927	44126927	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000300591.6:c.112C>T	p.Pro38Ser	p.P38S	ENST00000300591	NM_001145472.2	38	Cca/Tca	0	not done		possiblydamaging	
EXT2		inserm.fr	GRCh37	11	44135794	44135794	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1744T																					ENST00000395673.3:c.785G>A	p.Ser262Asn	p.S262N	ENST00000395673	NM_000401.3	262	aGc/aAc	0	not done		probablydamaging	
LRPPRC		inserm.fr	GRCh37	2	44145241	44145241	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1739T																					ENST00000260665.7:c.3071A>T	p.Asn1024Ile	p.N1024I	ENST00000260665	NM_133259.3	1024	aAt/aTt	0	not done		benign	
EXT2		inserm.fr	GRCh37	11	44151602	44151602	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM399T									Valid												ENST00000395673.3:c.1186G>A	p.Val396Met	p.V396M	ENST00000395673	NM_000401.3	396	Gtg/Atg	0	validated		probablydamaging	
AEBP1		inserm.fr	GRCh37	7	44152941	44152941	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000223357.3:c.2800G>A	p.Val934Met	p.V934M	ENST00000223357	NM_001129.4	934	Gtg/Atg	0	validated		probablydamaging	
AEBP1		inserm.fr	GRCh37	7	44153225	44153225	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1725T																					ENST00000223357.3:c.2842C>A	p.Pro948Thr	p.P948T	ENST00000223357	NM_001129.4	948	Ccg/Acg	0	not done		probablydamaging	
AEBP1		inserm.fr	GRCh37	7	44153437	44153437	+	synonymous_variant	Silent	SNP	G	A	A			CHC1736T																					ENST00000223357.3:c.3054G>A	p.Leu1018=	p.L1018=	ENST00000223357	NM_001129.4	1018	ctG/ctA	0	not done		synonymous	
LOXHD1		inserm.fr	GRCh37	18	44157680	44157680	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000398722.4:c.1126C>T	p.Pro376Ser	p.P376S	ENST00000398722		376	Cca/Tca	0	not done		probablydamaging	
FRMD5		inserm.fr	GRCh37	15	44166329	44166329	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000417257.1:c.1467C>T	p.Pro489=	p.P489=	ENST00000417257	NM_032892.3	489	ccC/ccT	0	not done		synonymous	
KCTD8		inserm.fr	GRCh37	4	44177222	44177222	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC097T																					ENST00000360029.3:c.1007G>T	p.Arg336Met	p.R336M	ENST00000360029	NM_198353.2	336	aGg/aTg	0	not done		possiblydamaging	
D4S234E		inserm.fr	GRCh37	4	4419001	4419001	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000421177.2:c.397G>A	p.Ala133Thr	p.A133T	ENST00000421177		133	Gcg/Acg	0	validated		benign	
TWF1		inserm.fr	GRCh37	12	44198342	44198342	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1060T																					ENST00000548315.1:c.59C>T	p.Ala20Val	p.A20V	ENST00000548315		20	gCc/gTc	0	validated		possiblydamaging	
TWF1		inserm.fr	GRCh37	12	44198376	44198376	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC1756T																					ENST00000548315.1:c.26-1G>T		p.X9_splice	ENST00000548315				0	validated		damaging	
SULT4A1		inserm.fr	GRCh37	22	44237732	44237732	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1595T																					ENST00000330884.4:c.250G>T	p.Glu84Ter	p.E84*	ENST00000330884	NM_014351.3	84	Gag/Tag	0	validated		damaging	
TMEM151B		inserm.fr	GRCh37	6	44241165	44241165	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000451188.2:c.498G>A	p.Lys166=	p.K166=	ENST00000451188	NM_001137560.1	166	aaG/aaA	0	not done		synonymous	
KANSL1		inserm.fr	GRCh37	17	44248710	44248710	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM723T																					ENST00000262419.6:c.800A>T	p.Lys267Met	p.K267M	ENST00000262419	NM_001193466.1	267	aAg/aTg	0	validated		probablydamaging	
PNPLA5		inserm.fr	GRCh37	22	44276759	44276759	+	synonymous_variant	Silent	SNP	C	A	A			CHC301T																					ENST00000216177.4:c.1206G>T	p.Pro402=	p.P402=	ENST00000216177	NM_138814.3	402	ccG/ccT	0	validated		synonymous	
WDR4		inserm.fr	GRCh37	21	44282449	44282449	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2113T																					ENST00000398208.2:c.509G>T	p.Arg170Leu	p.R170L	ENST00000398208	NM_001260476.1	170	cGa/cTa	0	not done		probablydamaging	
TOPAZ1		inserm.fr	GRCh37	3	44283644	44283644	+	synonymous_variant	Silent	SNP	G	A	A			CHC1629T																					ENST00000309765.4:c.99G>A	p.Ala33=	p.A33=	ENST00000309765	NM_001145030.1	33	gcG/gcA	0	not done		synonymous	
TOPAZ1		inserm.fr	GRCh37	3	44283840	44283840	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1545T																					ENST00000309765.4:c.295G>A	p.Gly99Ser	p.G99S	ENST00000309765	NM_001145030.1	99	Ggc/Agc	0	not done		benign	
PNPLA5		inserm.fr	GRCh37	22	44285369	44285369	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000216177.4:c.542C>T	p.Pro181Leu	p.P181L	ENST00000216177	NM_138814.3	181	cCc/cTc	0	not done		possiblydamaging	
TOPAZ1		inserm.fr	GRCh37	3	44285647	44285647	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000309765.4:c.1649G>A	p.Ser550Asn	p.S550N	ENST00000309765	NM_001145030.1	550	aGt/aAt	0	not done		benign	
ST3GAL3		inserm.fr	GRCh37	1	44290435	44290435	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262915.3:c.287G>A	p.Gly96Asp	p.G96D	ENST00000262915	NM_174963.3	96	gGc/gAc	0	not done		benign	
CHAF1A		inserm.fr	GRCh37	19	4429455	4429455	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1591T																					ENST00000301280.5:c.1625G>A	p.Arg542His	p.R542H	ENST00000301280	NM_005483.2	542	cGt/cAt	0	not done		benign	
ALX4		inserm.fr	GRCh37	11	44297127	44297127	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2127T																					ENST00000329255.3:c.548A>T	p.Lys183Met	p.K183M	ENST00000329255	NM_021926.3	183	aAg/aTg	0	not done		possiblydamaging	
CHAF1A		inserm.fr	GRCh37	19	4430573	4430573	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000301280.5:c.1882G>A	p.Glu628Lys	p.E628K	ENST00000301280	NM_005483.2	628	Gaa/Aaa	0	not done		probablydamaging	
VASN		inserm.fr	GRCh37	16	4432636	4432636	+	synonymous_variant	Silent	SNP	C	A	A			CHC433T																					ENST00000304735.3:c.1758C>A	p.Leu586=	p.L586=	ENST00000304735	NM_138440.2	586	ctC/ctA	0	validated		synonymous	
TOPAZ1		inserm.fr	GRCh37	3	44351389	44351389	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1715T																					ENST00000309765.4:c.4213G>A	p.Glu1405Lys	p.E1405K	ENST00000309765	NM_001145030.1	1405	Gag/Aag	0	not done		probablydamaging	
CDC5L		inserm.fr	GRCh37	6	44364111	44364111	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1611T																					ENST00000371477.3:c.473G>A	p.Arg158His	p.R158H	ENST00000371477	NM_001253.3	158	cGc/cAc	0	not done		probablydamaging	
FUNDC1		inserm.fr	GRCh37	X	44386576	44386576	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000378045.4:c.297G>T	p.Trp99Cys	p.W99C	ENST00000378045	NM_173794.3	99	tgG/tgT	0	validated		probablydamaging	
FGF10		inserm.fr	GRCh37	5	44388673	44388673	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC2200T																					ENST00000264664.4:c.112C>T	p.Gln38Ter	p.Q38*	ENST00000264664	NM_004465.1	38	Caa/Taa	0	not done		damaging	
TCAIM		inserm.fr	GRCh37	3	44409030	44409030	+	synonymous_variant	Silent	SNP	T	A	A			CHC884T																					ENST00000342649.4:c.402T>A	p.Ser134=	p.S134=	ENST00000342649	NM_173826.3	134	tcT/tcA	0	validated		synonymous	
IPO13		inserm.fr	GRCh37	1	44413309	44413309	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000372343.3:c.37G>A	p.Ala13Thr	p.A13T	ENST00000372343	NM_014652.3	13	Gct/Act	0	not done		benign	
MYBBP1A		inserm.fr	GRCh37	17	4442799	4442799	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC805T																					ENST00000381556.2:c.3898G>T	p.Ala1300Ser	p.A1300S	ENST00000381556	NM_014520.3	1300	Gca/Tca	0	not done		probablydamaging	
PPM1B		inserm.fr	GRCh37	2	44428715	44428715	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000282412.4:c.377G>A	p.Gly126Glu	p.G126E	ENST00000282412	NM_002706.4	126	gGg/gAg	0	not done		possiblydamaging	
IPO13		inserm.fr	GRCh37	1	44433319	44433319	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000372343.3:c.2857G>A	p.Gly953Ser	p.G953S	ENST00000372343	NM_014652.3	953	Ggt/Agt	0	not done		probablydamaging	
MYBBP1A		inserm.fr	GRCh37	17	4444757	4444757	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC197T									Valid												ENST00000381556.2:c.3297+1G>T		p.X1099_splice	ENST00000381556	NM_014520.3			0	validated		damaging	
KCTD8		inserm.fr	GRCh37	4	44449916	44449916	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000360029.3:c.625C>T	p.Leu209Phe	p.L209F	ENST00000360029	NM_198353.2	209	Ctc/Ttc	0	not done		possiblydamaging	
PKNOX1		inserm.fr	GRCh37	21	44450082	44450082	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000291547.5:c.1182G>A	p.Ala394=	p.A394=	ENST00000291547	NM_004571.3	394	gcG/gcA	0	validated		synonymous	
ZNF221		inserm.fr	GRCh37	19	44470601	44470601	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC805T																					ENST00000251269.5:c.947G>A	p.Gly316Asp	p.G316D	ENST00000251269	NM_013359.2	316	gGt/gAt	0	not done		possiblydamaging	
MYBBP1A		inserm.fr	GRCh37	17	4448048	4448048	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1209T																					ENST00000381556.2:c.2479C>T	p.Arg827Trp	p.R827W	ENST00000381556	NM_014520.3	827	Cgg/Tgg	0	not done		probablydamaging	
MYBBP1A		inserm.fr	GRCh37	17	4448462	4448462	+	synonymous_variant	Silent	SNP	G	A	A			CHC303T																					ENST00000381556.2:c.2169C>T	p.Ser723=	p.S723=	ENST00000381556	NM_014520.3	723	agC/agT	0	validated		synonymous	
SLC6A9		inserm.fr	GRCh37	1	44489926	44489926	+	synonymous_variant	Silent	SNP	C	A	A			BCM375T																					ENST00000372306.3:c.24G>T	p.Gly8=	p.G8=	ENST00000372306		8	ggG/ggT	0	validated		synonymous	
ZSWIM1		inserm.fr	GRCh37	20	44511442	44511442	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1742T																					ENST00000372523.1:c.211G>A	p.Val71Ile	p.V71I	ENST00000372523	NM_080603.4	71	Gtc/Atc	0	not done		benign	
ZNF230		inserm.fr	GRCh37	19	44514793	44514793	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000429154.2:c.602G>A	p.Arg201His	p.R201H	ENST00000429154	NM_006300.3	201	cGt/cAt	0	validated		benign	
NEURL2		inserm.fr	GRCh37	20	44519248	44519248	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2362T																					ENST00000372518.4:c.383C>T	p.Pro128Leu	p.P128L	ENST00000372518	NM_001278535.1	128	cCg/cTg	0	validated		benign	
PARVB		inserm.fr	GRCh37	22	44528855	44528855	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000406477.3:c.698C>A	p.Pro233His	p.P233H	ENST00000406477	NM_001003828.2	233	cCt/cAt	0	not done		probablydamaging	
ZNF223		inserm.fr	GRCh37	19	44564658	44564658	+	synonymous_variant	Silent	SNP	G	A	A			BCM735T																					ENST00000434772.3:c.66G>A	p.Leu22=	p.L22=	ENST00000434772	NM_013361.4	22	ctG/ctA	0	validated		synonymous	
ZNF335		inserm.fr	GRCh37	20	44578973	44578973	+	synonymous_variant	Silent	SNP	C	A	A			CHC1185T																					ENST00000322927.2:c.3372G>T	p.Arg1124=	p.R1124=	ENST00000322927	NM_022095.3	1124	cgG/cgT	0	validated		synonymous	
GGT6		inserm.fr	GRCh37	17	4461810	4461810	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000574154.1:c.982C>T	p.Leu328=	p.L328=	ENST00000574154	NM_001288702.1	328	Ctg/Ttg	0	not done		synonymous	
GGT6		inserm.fr	GRCh37	17	4462921	4462921	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC303T									Valid												ENST00000574154.1:c.275C>T	p.Ala92Val	p.A92V	ENST00000574154	NM_001288702.1	92	gCc/gTc	0	validated		possiblydamaging	
GGT6		inserm.fr	GRCh37	17	4463711	4463711	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1053T																					ENST00000574154.1:c.106G>T	p.Val36Phe	p.V36F	ENST00000574154	NM_001288702.1	36	Gtt/Ttt	0	validated		benign	
MMP9		inserm.fr	GRCh37	20	44642843	44642843	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000372330.3:c.1831G>A	p.Ala611Thr	p.A611T	ENST00000372330	NM_004994.2	611	Gcc/Acc	0	not done		benign	
ZNF234		inserm.fr	GRCh37	19	44661575	44661575	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1192T																					ENST00000426739.2:c.1406C>A	p.Ser469Ter	p.S469*	ENST00000426739	NM_006630.2	469	tCa/tAa	0	validated		damaging	
SLC12A5		inserm.fr	GRCh37	20	44665971	44665971	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000454036.2:c.628G>A	p.Gly210Ser	p.G210S	ENST00000454036	NM_001134771.1	210	Ggc/Agc	0	not done		probablydamaging	
SLC12A5		inserm.fr	GRCh37	20	44671863	44671863	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1597T																					ENST00000454036.2:c.1207G>A	p.Ala403Thr	p.A403T	ENST00000454036	NM_001134771.1	403	Gcc/Acc	0	not done		benign	
CASC4		inserm.fr	GRCh37	15	44673097	44673097	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000299957.6:c.995G>A	p.Ser332Asn	p.S332N	ENST00000299957	NM_138423.3	332	aGt/aAt	0	not done		benign	
DMAP1		inserm.fr	GRCh37	1	44680082	44680082	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1744T																					ENST00000372289.2:c.166G>A	p.Glu56Lys	p.E56K	ENST00000372289	NM_019100.4	56	Gaa/Aaa	0	not done		probablydamaging	
SLC12A5		inserm.fr	GRCh37	20	44685079	44685079	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1028T																					ENST00000454036.2:c.3055G>A	p.Glu1019Lys	p.E1019K	ENST00000454036	NM_001134771.1	1019	Gaa/Aaa	0	not done		benign	
OGDH		inserm.fr	GRCh37	7	44687328	44687328	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC917T																					ENST00000222673.5:c.487G>A	p.Ala163Thr	p.A163T	ENST00000222673	NM_002541.3	163	Gct/Act	0	validated		benign	
NCOA5		inserm.fr	GRCh37	20	44697206	44697206	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC469T									Valid												ENST00000290231.6:c.437A>T	p.Asp146Val	p.D146V	ENST00000290231	NM_020967.2	146	gAc/gTc	0	validated		probablydamaging	
ZNF35		inserm.fr	GRCh37	3	44700312	44700312	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM769T																					ENST00000396056.2:c.457G>A	p.Gly153Arg	p.G153R	ENST00000396056	NM_003420.3	153	Gga/Aga	0	validated		benign	
OGDH		inserm.fr	GRCh37	7	44734022	44734022	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000222673.5:c.1516-1G>A		p.X506_splice	ENST00000222673	NM_002541.3			0	not done		damaging	
ZNF227		inserm.fr	GRCh37	19	44740758	44740758	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1774T																					ENST00000313040.7:c.2175C>A	p.Phe725Leu	p.F725L	ENST00000313040	NM_182490.1	725	ttC/ttA	0	validated		probablydamaging	
CD40		inserm.fr	GRCh37	20	44757593	44757593	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1040T																					ENST00000372285.3:c.748C>A	p.Pro250Thr	p.P250T	ENST00000372285	NM_001250.4	250	Cca/Aca	0	not done		probablydamaging	
ZNF502		inserm.fr	GRCh37	3	44762681	44762681	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000296091.4:c.372G>A	p.Glu124=	p.E124=	ENST00000296091	NM_001134440.1	124	gaG/gaA	0	not done		synonymous	
TMEM117		inserm.fr	GRCh37	12	44770434	44770434	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC912T																					ENST00000266534.3:c.825C>A	p.His275Gln	p.H275Q	ENST00000266534	NM_032256.1	275	caC/caA	0	validated		probablydamaging	
NSF		inserm.fr	GRCh37	17	44771944	44771944	+	synonymous_variant	Silent	SNP	C	A	A			CHC320T																					ENST00000398238.4:c.1290C>A	p.Ala430=	p.A430=	ENST00000398238	NM_006178.3	430	gcC/gcA	0	validated		synonymous	
SKOR2		inserm.fr	GRCh37	18	44774331	44774331	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000425639.1:c.1224C>T	p.Pro408=	p.P408=	ENST00000425639	NM_001278063.1	408	ccC/ccT	0	not done		synonymous	
ZNF501		inserm.fr	GRCh37	3	44775984	44775984	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM545T																					ENST00000396048.2:c.71G>A	p.Cys24Tyr	p.C24Y	ENST00000396048	NM_145044.3	24	tGt/tAt	0	validated		probablydamaging	
ZNF501		inserm.fr	GRCh37	3	44776669	44776669	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000396048.2:c.756G>A	p.Gly252=	p.G252=	ENST00000396048	NM_145044.3	252	ggG/ggA	0	not done		synonymous	
TMEM117		inserm.fr	GRCh37	12	44781987	44781987	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000266534.3:c.1077G>A	p.Trp359Ter	p.W359*	ENST00000266534	NM_032256.1	359	tgG/tgA	0	not done		damaging	
ZNF235		inserm.fr	GRCh37	19	44791505	44791505	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB231T																					ENST00000291182.4:c.2083G>T	p.Ala695Ser	p.A695S	ENST00000291182	NM_004234.4	695	Gcc/Tcc	0	validated		probablydamaging	
ZNF235		inserm.fr	GRCh37	19	44791583	44791583	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000291182.4:c.2005G>T	p.Gly669Cys	p.G669C	ENST00000291182	NM_004234.4	669	Ggt/Tgt	0	not done		probablydamaging	
FGF23		inserm.fr	GRCh37	12	4479536	4479536	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000237837.1:c.729C>T	p.Gly243=	p.G243=	ENST00000237837	NM_020638.2	243	ggC/ggT	0	not done		synonymous	
MRPS30		inserm.fr	GRCh37	5	44809551	44809551	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1594T																					ENST00000507110.1:c.487G>A	p.Val163Met	p.V163M	ENST00000507110	NM_016640.3	163	Gtg/Atg	0	not done		possiblydamaging	
ZNF112		inserm.fr	GRCh37	19	44831839	44831839	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC433T									Valid												ENST00000337401.4:c.2489A>T	p.Glu830Val	p.E830V	ENST00000337401	NM_001083335.1	830	gAg/gTg	0	validated		probablydamaging	
SIK1		inserm.fr	GRCh37	21	44838263	44838263	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000270162.6:c.1621C>T	p.Pro541Ser	p.P541S	ENST00000270162	NM_173354.3	541	Ccc/Tcc	0	not done		benign	
SPG11		inserm.fr	GRCh37	15	44865744	44865744	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC1209T																					ENST00000261866.7:c.6205+1G>T		p.X2069_splice	ENST00000261866	NM_025137.3			0	not done		possiblydamaging	
KIF15		inserm.fr	GRCh37	3	44872511	44872511	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC1061T									Valid												ENST00000326047.4:c.3171+1G>A		p.X1057_splice	ENST00000326047	NM_020242.2			0	validated		damaging	
SPG11		inserm.fr	GRCh37	15	44892682	44892682	+	synonymous_variant	Silent	SNP	G	A	A			CHC891T																					ENST00000261866.7:c.3669C>T	p.Ser1223=	p.S1223=	ENST00000261866	NM_025137.3	1223	agC/agT	0	not done		synonymous	
NELL2		inserm.fr	GRCh37	12	44913839	44913839	+	synonymous_variant	Silent	SNP	G	A	A			CHC1182T																					ENST00000437801.2:c.2499C>T	p.Thr833=	p.T833=	ENST00000437801	NM_001145107.1	833	acC/acT	0	not done		synonymous	
ZNF229		inserm.fr	GRCh37	19	44933291	44933291	+	synonymous_variant	Silent	SNP	C	A	A			CHC2052T																					ENST00000588931.1:c.1665G>T	p.Arg555=	p.R555=	ENST00000588931	NM_014518.2	555	cgG/cgT	0	not done		synonymous	
HDGFL2		inserm.fr	GRCh37	19	4493788	4493788	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC451T																					ENST00000301284.4:c.767C>A	p.Ser256Tyr	p.S256Y	ENST00000301284	NM_001001520.1	256	tCc/tAc	0	validated		possiblydamaging	
TSPAN18		inserm.fr	GRCh37	11	44939591	44939591	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000340160.3:c.327G>A	p.Arg109=	p.R109=	ENST00000340160	NM_130783.4	109	agG/agA	0	not done		synonymous	
TGM4		inserm.fr	GRCh37	3	44945376	44945376	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	A	A			CHC2206T																					ENST00000296125.4:c.972G>A	p.Trp324Ter	p.W324*	ENST00000296125	NM_003241.3	324	tgG/tgA	0	validated		damaging	
ZNF229		inserm.fr	GRCh37	19	44946764	44946764	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000588931.1:c.76G>T	p.Glu26Ter	p.E26*	ENST00000588931	NM_014518.2	26	Gag/Tag	0	not done		damaging	
KDM6A		inserm.fr	GRCh37	X	44949164	44949164	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000377967.4:c.3725G>A	p.Gly1242Asp	p.G1242D	ENST00000377967	NM_021140.2	1242	gGt/gAt	0	not done		probablydamaging	
SPG11		inserm.fr	GRCh37	15	44951385	44951385	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1720T																					ENST00000261866.7:c.559G>T	p.Val187Leu	p.V187L	ENST00000261866	NM_025137.3	187	Gta/Tta	0	not done		benign	
TGM4		inserm.fr	GRCh37	3	44952571	44952571	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC961T																					ENST00000296125.4:c.1728G>A	p.Met576Ile	p.M576I	ENST00000296125	NM_003241.3	576	atG/atA	0	validated		benign	
WNT9B		inserm.fr	GRCh37	17	44952665	44952665	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000290015.2:c.533G>A	p.Gly178Glu	p.G178E	ENST00000290015	NM_003396.1	178	gGg/gAg	0	not done		probablydamaging	
SUPT3H		inserm.fr	GRCh37	6	44971423	44971423	+	synonymous_variant	Silent	SNP	G	A	A			BCB231T																					ENST00000371460.1:c.504C>T	p.Asp168=	p.D168=	ENST00000371460	NM_181356.2	168	gaC/gaT	0	validated		synonymous	
MYO1G		inserm.fr	GRCh37	7	45005749	45005749	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000258787.7:c.2080C>T	p.Arg694Cys	p.R694C	ENST00000258787	NM_033054.2	694	Cgc/Tgc	0	not done		probablydamaging	
CXorf36		inserm.fr	GRCh37	X	45016989	45016989	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM545T																					ENST00000398000.2:c.643G>T	p.Ala215Ser	p.A215S	ENST00000398000	NM_176819.3	215	Gct/Tct	0	validated		benign	
TRIM69		inserm.fr	GRCh37	15	45050909	45050909	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB157T																					ENST00000559390.1:c.670G>A	p.Glu224Lys	p.E224K	ENST00000559390		224	Gag/Aag	0	validated		benign	
PRR5		inserm.fr	GRCh37	22	45075715	45075715	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM339T																					ENST00000403581.1:c.36G>A	p.Trp12Ter	p.W12*	ENST00000403581	NM_001198721.1	12	tgG/tgA	0	validated		damaging	
RRP1B		inserm.fr	GRCh37	21	45107781	45107781	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000340648.4:c.1526G>A	p.Gly509Glu	p.G509E	ENST00000340648	NM_015056.2	509	gGa/gAa	0	not done		benign	
OR52K1		inserm.fr	GRCh37	11	4510873	4510873	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1739T																					ENST00000307632.3:c.743G>A	p.Gly248Asp	p.G248D	ENST00000307632	NM_001005171.2	248	gGt/gAt	0	not done		probablydamaging	
OR52K1		inserm.fr	GRCh37	11	4511039	4511039	+	synonymous_variant	Silent	SNP	G	A	A			CHC1763T																					ENST00000307632.3:c.909G>A	p.Glu303=	p.E303=	ENST00000307632	NM_001005171.2	303	gaG/gaA	0	not done		synonymous	
TMEM53		inserm.fr	GRCh37	1	45120629	45120629	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC197T									Valid												ENST00000372237.3:c.436C>T	p.Pro146Ser	p.P146S	ENST00000372237	NM_024587.2	146	Cct/Tct	0	validated		probablydamaging	
NACAD		inserm.fr	GRCh37	7	45120828	45120828	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1594T																					ENST00000490531.2:c.4292G>T	p.Gly1431Val	p.G1431V	ENST00000490531	NM_001146334.1	1431	gGa/gTa	0	not done		probablydamaging	
ZNF334		inserm.fr	GRCh37	20	45130658	45130658	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM617T																					ENST00000347606.4:c.1320A>T	p.Lys440Asn	p.K440N	ENST00000347606	NM_018102.4	440	aaA/aaT	0	validated		probablydamaging	
ZNF334		inserm.fr	GRCh37	20	45131622	45131622	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1775T																					ENST00000347606.4:c.356C>T	p.Thr119Ile	p.T119I	ENST00000347606	NM_018102.4	119	aCa/aTa	0	validated		probablydamaging	
TBRG4		inserm.fr	GRCh37	7	45142999	45142999	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC097T																					ENST00000258770.3:c.1109G>T	p.Cys370Phe	p.C370F	ENST00000258770	NM_004749.3	370	tGc/tTc	0	not done		probablydamaging	
TSC22D1		inserm.fr	GRCh37	13	45149454	45149454	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM545T																					ENST00000458659.2:c.757C>T	p.Pro253Ser	p.P253S	ENST00000458659	NM_183422.3	253	Cca/Tca	0	validated		probablydamaging	
OCSTAMP		inserm.fr	GRCh37	20	45174181	45174181	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000279028.2:c.832C>T	p.Pro278Ser	p.P278S	ENST00000279028	NM_080721.2	278	Cct/Tct	0	not done		benign	
SLC13A3		inserm.fr	GRCh37	20	45194992	45194992	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1534T																					ENST00000279027.4:c.1370A>T	p.His457Leu	p.H457L	ENST00000279027	NM_001193342.1	457	cAc/cTc	0	validated		possiblydamaging	
ARHGAP8		inserm.fr	GRCh37	22	45204893	45204893	+	intron_variant	Intron	SNP	G	A	A			CHC891T																					ENST00000352766.7:c.930-5659G>A		*310*	ENST00000352766				0	validated		benign	
ARHGAP8		inserm.fr	GRCh37	22	45210606	45210606	+	synonymous_variant	Silent	SNP	G	A	A			BCM791T																					ENST00000352766.7:c.984G>A	p.Lys328=	p.K328=	ENST00000352766		328	aaG/aaA	0	validated		synonymous	
RRP1		inserm.fr	GRCh37	21	45223582	45223582	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1531T																					ENST00000497547.1:c.1313G>A	p.Arg438Gln	p.R438Q	ENST00000497547	NM_003683.5	438	cGg/cAg	0	not done		benign	
CDC27		inserm.fr	GRCh37	17	45229175	45229175	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM617T									Valid												ENST00000531206.1:c.1085C>T	p.Thr362Ile	p.T362I	ENST00000531206		362	aCa/aTa	0	validated		probablydamaging	
PLIN5		inserm.fr	GRCh37	19	4523711	4523711	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1053T																					ENST00000381848.3:c.1221G>T	p.Trp407Cys	p.W407C	ENST00000381848	NM_001013706.2	407	tgG/tgT	0	validated		probablydamaging	
HCN1		inserm.fr	GRCh37	5	45262219	45262219	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM483T																					ENST00000303230.4:c.2477G>T	p.Gly826Val	p.G826V	ENST00000303230	NM_021072.3	826	gGc/gTc	0	validated		benign	
CBLC		inserm.fr	GRCh37	19	45284540	45284540	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000270279.3:c.577G>A	p.Ala193Thr	p.A193T	ENST00000270279	NM_012116.3	193	Gcc/Acc	0	not done		probablydamaging	
PTCH2		inserm.fr	GRCh37	1	45292624	45292624	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1061T																					ENST00000372192.3:c.2645C>T	p.Pro882Leu	p.P882L	ENST00000372192	NM_003738.4	882	cCt/cTt	0	validated		possiblydamaging	
PTCH2		inserm.fr	GRCh37	1	45292754	45292754	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC1746T																					ENST00000372192.3:c.2515C>T	p.Leu839=	p.L839=	ENST00000372192	NM_003738.4	839	Ctg/Ttg	0	not done		damaging	
BCAM		inserm.fr	GRCh37	19	45314519	45314519	+	synonymous_variant	Silent	SNP	G	A	A			CHC2103T																					ENST00000270233.6:c.120G>A	p.Leu40=	p.L40=	ENST00000270233	NM_005581.4	40	ctG/ctA	0	validated		synonymous	
BCAM		inserm.fr	GRCh37	19	45317446	45317446	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000270233.6:c.822G>A	p.Pro274=	p.P274=	ENST00000270233	NM_005581.4	274	ccG/ccA	0	not done		synonymous	
SLC2A10		inserm.fr	GRCh37	20	45358052	45358052	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC433T									Valid												ENST00000359271.2:c.1472G>A	p.Gly491Asp	p.G491D	ENST00000359271	NM_030777.3	491	gGc/gAc	0	validated		probablydamaging	
SMAD2		inserm.fr	GRCh37	18	45374871	45374871	+	synonymous_variant	Silent	SNP	C	A	A			BCM321T																					ENST00000262160.6:c.972G>T	p.Thr324=	p.T324=	ENST00000262160	NM_005901.5	324	acG/acT	0	validated		synonymous	
SMAD2		inserm.fr	GRCh37	18	45374902	45374902	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1736T																					ENST00000262160.6:c.941G>T	p.Gly314Val	p.G314V	ENST00000262160	NM_005901.5	314	gGt/gTt	0	not done		probablydamaging	
AGPAT3		inserm.fr	GRCh37	21	45389156	45389156	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2215T																					ENST00000398063.2:c.506T>A	p.Met169Lys	p.M169K	ENST00000398063	NM_001037553.1	169	aTg/aAg	0	not done		probablydamaging	
DUOX2		inserm.fr	GRCh37	15	45404137	45404137	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000603300.1:c.342C>T	p.Ser114=	p.S114=	ENST00000603300	NM_014080.4	114	tcC/tcT	0	not done		synonymous	
DBX2		inserm.fr	GRCh37	12	45410187	45410187	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC609T									Valid												ENST00000332700.6:c.902G>T	p.Arg301Ile	p.R301I	ENST00000332700	NM_001004329.2	301	aGa/aTa	0	validated		possiblydamaging	
APOE		inserm.fr	GRCh37	19	45412153	45412153	+	synonymous_variant	Silent	SNP	G	A	A			BCM791T																					ENST00000252486.4:c.600G>A	p.Gly200=	p.G200=	ENST00000252486	NM_000041.2	200	ggG/ggA	0	validated		synonymous	
APOC1		inserm.fr	GRCh37	19	45418159	45418159	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC923T																					ENST00000588750.1:c.11T>A	p.Phe4Tyr	p.F4Y	ENST00000588750		4	tTc/tAc	0	not done		benign	
DUOX1		inserm.fr	GRCh37	15	45435475	45435475	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000321429.4:c.1910C>A	p.Ser637Tyr	p.S637Y	ENST00000321429	NM_017434.3	637	tCt/tAt	0	not done		benign	
SEMA6B		inserm.fr	GRCh37	19	4544204	4544204	+	synonymous_variant	Silent	SNP	G	A	A			CHC2213T																					ENST00000586582.1:c.2076C>T	p.Ala692=	p.A692=	ENST00000586582	NM_032108.3	692	gcC/gcT	0	validated		synonymous	
DBX2		inserm.fr	GRCh37	12	45444428	45444428	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC059T																					ENST00000332700.6:c.283G>T	p.Ala95Ser	p.A95S	ENST00000332700	NM_001004329.2	95	Gcc/Tcc	0	validated		benign	
DBX2		inserm.fr	GRCh37	12	45444696	45444696	+	synonymous_variant	Silent	SNP	C	A	A			CHC609T																					ENST00000332700.6:c.15G>T	p.Ala5=	p.A5=	ENST00000332700	NM_001004329.2	5	gcG/gcT	0	validated		synonymous	
DUOX1		inserm.fr	GRCh37	15	45454042	45454042	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC097T																					ENST00000321429.4:c.3963C>A	p.Phe1321Leu	p.F1321L	ENST00000321429	NM_017434.3	1321	ttC/ttA	0	not done		probablydamaging	
SHF		inserm.fr	GRCh37	15	45464451	45464451	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1148T																					ENST00000290894.8:c.859C>T	p.Pro287Ser	p.P287S	ENST00000290894	NM_138356.2	287	Ccc/Tcc	0	not done		probablydamaging	
EFCAB13		inserm.fr	GRCh37	17	45468804	45468804	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC1081T																					ENST00000331493.2:c.1584G>A	p.Ala528=	p.A528=	ENST00000331493	NM_152347.4	528	gcG/gcA	0	validated		damaging	
SEMA6B		inserm.fr	GRCh37	19	4548086	4548086	+	synonymous_variant	Silent	SNP	C	A	A			CHC1035T																					ENST00000586582.1:c.1554G>T	p.Val518=	p.V518=	ENST00000586582	NM_032108.3	518	gtG/gtT	0	validated		synonymous	
ZSWIM5		inserm.fr	GRCh37	1	45504686	45504686	+	synonymous_variant	Silent	SNP	G	A	A			CHC2213T																					ENST00000359600.5:c.1816C>T	p.Leu606=	p.L606=	ENST00000359600	NM_020883.1	606	Ctg/Ttg	0	validated		synonymous	
TRAPPC10		inserm.fr	GRCh37	21	45507719	45507719	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000291574.4:c.2679G>A	p.Gly893=	p.G893=	ENST00000291574	NM_003274.4	893	ggG/ggA	0	not done		synonymous	
TRAPPC10		inserm.fr	GRCh37	21	45507722	45507722	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000291574.4:c.2682G>A	p.Glu894=	p.E894=	ENST00000291574	NM_003274.4	894	gaG/gaA	0	not done		synonymous	
LARS2		inserm.fr	GRCh37	3	45518114	45518114	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000415258.1:c.1013G>A	p.Gly338Asp	p.G338D	ENST00000415258		338	gGc/gAc	0	not done		possiblydamaging	
RELB		inserm.fr	GRCh37	19	45528616	45528616	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000221452.8:c.692G>A	p.Arg231Lys	p.R231K	ENST00000221452	NM_006509.3	231	aGg/aAg	0	not done		benign	
RELB		inserm.fr	GRCh37	19	45528646	45528646	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000221452.8:c.722G>A	p.Arg241Gln	p.R241Q	ENST00000221452	NM_006509.3	241	cGg/cAg	0	not done		benign	
ZSWIM5		inserm.fr	GRCh37	1	45553765	45553765	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC155T									Valid												ENST00000359600.5:c.740A>T	p.His247Leu	p.H247L	ENST00000359600	NM_020883.1	247	cAt/cTt	0	validated		probablydamaging	
SLC28A2		inserm.fr	GRCh37	15	45560432	45560432	+	synonymous_variant	Silent	SNP	T	A	A			CHC798T																					ENST00000347644.3:c.1224T>A	p.Ala408=	p.A408=	ENST00000347644	NM_004212.3	408	gcT/gcA	0	validated		synonymous	
PRPF39		inserm.fr	GRCh37	14	45565325	45565325	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC798T									Valid												ENST00000355765.6:c.344G>A	p.Arg115Lys	p.R115K	ENST00000355765	NM_017922.3	115	aGg/aAg	0	validated		possiblydamaging	
CLASRP		inserm.fr	GRCh37	19	45567279	45567279	+	synonymous_variant	Silent	SNP	G	A	A			CHC1205T																					ENST00000221455.3:c.915G>A	p.Ser305=	p.S305=	ENST00000221455	NM_007056.2	305	tcG/tcA	0	validated		synonymous	
PRPF39		inserm.fr	GRCh37	14	45579768	45579768	+	synonymous_variant	Silent	SNP	C	A	A			CHC320T																					ENST00000355765.6:c.1320C>A	p.Ala440=	p.A440=	ENST00000355765	NM_017922.3	440	gcC/gcA	0	validated		synonymous	
KIAA0930		inserm.fr	GRCh37	22	45595798	45595798	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000251993.7:c.986C>T	p.Ser329Leu	p.S329L	ENST00000251993	NM_015264.1	329	tCg/tTg	0	validated		probablydamaging	
ADCY1		inserm.fr	GRCh37	7	45614616	45614616	+	synonymous_variant	Silent	SNP	C	A	A			CHC1749T																					ENST00000297323.7:c.474C>A	p.Thr158=	p.T158=	ENST00000297323	NM_021116.2	158	acC/acA	0	not done		synonymous	
FANCM		inserm.fr	GRCh37	14	45620653	45620653	+	synonymous_variant	Silent	SNP	G	A	A			BCM695T																					ENST00000267430.5:c.972G>A	p.Arg324=	p.R324=	ENST00000267430	NM_020937.2	324	agG/agA	0	validated		synonymous	
FANCM		inserm.fr	GRCh37	14	45642257	45642257	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000267430.5:c.2161-1G>A		p.X721_splice	ENST00000267430	NM_020937.2			0	not done		damaging	
HCN1		inserm.fr	GRCh37	5	45645294	45645294	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1712T																					ENST00000303230.4:c.842G>T	p.Trp281Leu	p.W281L	ENST00000303230	NM_021072.3	281	tGg/tTg	0	not done		benign	
OR52M1		inserm.fr	GRCh37	11	4566722	4566722	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000360213.1:c.302G>A	p.Gly101Asp	p.G101D	ENST00000360213	NM_001004137.1	101	gGc/gAc	0	not done		benign	
GATM		inserm.fr	GRCh37	15	45669012	45669012	+	synonymous_variant	Silent	SNP	T	A	A			CHC1700T																					ENST00000396659.3:c.75A>T	p.Gly25=	p.G25=	ENST00000396659	NM_001482.2	25	ggA/ggT	0	not done		synonymous	
CHST1		inserm.fr	GRCh37	11	45672440	45672440	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM501T																					ENST00000308064.2:c.34G>T	p.Ala12Ser	p.A12S	ENST00000308064	NM_003654.5	12	Gcc/Tcc	0	validated		probablydamaging	
DNMT3L		inserm.fr	GRCh37	21	45678424	45678424	+	synonymous_variant	Silent	SNP	G	A	A			CHC1040T																					ENST00000270172.3:c.498C>T	p.Ala166=	p.A166=	ENST00000270172	NM_013369.3	166	gcC/gcT	0	not done		synonymous	
DNMT3L		inserm.fr	GRCh37	21	45678482	45678482	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC898T																					ENST00000270172.3:c.440C>T	p.Pro147Leu	p.P147L	ENST00000270172	NM_013369.3	147	cCg/cTg	0	not done		probablydamaging	
MIS18BP1		inserm.fr	GRCh37	14	45693870	45693870	+	synonymous_variant	Silent	SNP	G	A	A			CHC1035T																					ENST00000310806.4:c.1920C>T	p.Tyr640=	p.Y640=	ENST00000310806	NM_018353.4	640	taC/taT	0	validated		synonymous	
EXOC3L2		inserm.fr	GRCh37	19	45720830	45720830	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000413988.1:c.775C>T	p.Leu259Phe	p.L259F	ENST00000413988	NM_138568.3	259	Ctc/Ttc	0	not done		probablydamaging	
PFKL		inserm.fr	GRCh37	21	45732101	45732101	+	synonymous_variant	Silent	SNP	C	A	A			CHC1052T																					ENST00000349048.4:c.351C>A	p.Gly117=	p.G117=	ENST00000349048	NM_002626.4	117	ggC/ggA	0	validated		synonymous	
PFKL		inserm.fr	GRCh37	21	45746130	45746130	+	synonymous_variant	Silent	SNP	G	A	A			CHC1720T																					ENST00000349048.4:c.2178G>A	p.Lys726=	p.K726=	ENST00000349048	NM_002626.4	726	aaG/aaA	0	not done		synonymous	
TRPM2		inserm.fr	GRCh37	21	45786657	45786657	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1708T																					ENST00000397928.1:c.444C>A	p.Asp148Glu	p.D148E	ENST00000397928	NM_003307.3	148	gaC/gaA	0	not done		probablydamaging	
HPDL		inserm.fr	GRCh37	1	45793585	45793585	+	synonymous_variant	Silent	SNP	C	A	A			CHC1754T																					ENST00000334815.3:c.765C>A	p.Gly255=	p.G255=	ENST00000334815	NM_032756.2	255	ggC/ggA	0	not done		synonymous	
ANO6		inserm.fr	GRCh37	12	45797285	45797285	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000423947.3:c.1909G>A	p.Ala637Thr	p.A637T	ENST00000423947	NM_001204803.1	637	Gca/Aca	0	not done		probablydamaging	
MUTYH		inserm.fr	GRCh37	1	45798966	45798966	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000372115.3:c.337G>T	p.Ala113Ser	p.A113S	ENST00000372115	NM_001048171.1	113	Gca/Tca	0	not done		possiblydamaging	
OR13A1		inserm.fr	GRCh37	10	45799597	45799597	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1595T																					ENST00000553795.1:c.274A>T	p.Thr92Ser	p.T92S	ENST00000553795	NM_001004297.2	92	Acc/Tcc	0	validated		probablydamaging	
ANO6		inserm.fr	GRCh37	12	45810676	45810676	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1081T																					ENST00000423947.3:c.2269G>A	p.Val757Met	p.V757M	ENST00000423947	NM_001204803.1	757	Gtg/Atg	0	validated		probablydamaging	
ANO6		inserm.fr	GRCh37	12	45814853	45814853	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000423947.3:c.2281-1G>A		p.X761_splice	ENST00000423947	NM_001204803.1			0	not done		damaging	
TRPM2		inserm.fr	GRCh37	21	45817726	45817726	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000397928.1:c.2029G>A	p.Ala677Thr	p.A677T	ENST00000397928	NM_003307.3	677	Gcg/Acg	0	not done		benign	
TBX21		inserm.fr	GRCh37	17	45820496	45820496	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC917T																					ENST00000177694.1:c.706G>A	p.Glu236Lys	p.E236K	ENST00000177694	NM_013351.1	236	Gaa/Aaa	0	validated		possiblydamaging	
TRPM2		inserm.fr	GRCh37	21	45846985	45846985	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000397928.1:c.3965G>A	p.Gly1322Glu	p.G1322E	ENST00000397928	NM_003307.3	1322	gGg/gAg	0	not done		probablydamaging	
KLC3		inserm.fr	GRCh37	19	45852828	45852828	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM783T																					ENST00000391946.2:c.1111G>A	p.Asp371Asn	p.D371N	ENST00000391946	NM_177417.2	371	Gac/Aac	0	validated		probablydamaging	
ERCC2		inserm.fr	GRCh37	19	45854924	45854924	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000391945.4:c.2246C>T	p.Thr749Met	p.T749M	ENST00000391945	NM_000400.3	749	aCg/aTg	0	validated		benign	
ERCC2		inserm.fr	GRCh37	19	45855808	45855808	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC303T																					ENST00000391945.4:c.2002A>T	p.Ile668Phe	p.I668F	ENST00000391945	NM_000400.3	668	Atc/Ttc	0	validated		benign	
ERCC2		inserm.fr	GRCh37	19	45867753	45867753	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1569T																					ENST00000391945.4:c.647A>T	p.Lys216Met	p.K216M	ENST00000391945	NM_000400.3	216	aAg/aTg	0	not done		probablydamaging	
PPP1R13L		inserm.fr	GRCh37	19	45885922	45885922	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1568T																					ENST00000418234.2:c.2311G>T	p.Ala771Ser	p.A771S	ENST00000418234	NM_001142502.1	771	Gcc/Tcc	0	not done		probablydamaging	
OSBPL7		inserm.fr	GRCh37	17	45890738	45890738	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2048T																					ENST00000007414.3:c.1631A>T	p.Tyr544Phe	p.Y544F	ENST00000007414	NM_145798.2	544	tAc/tTc	0	not done		possiblydamaging	
CRY2		inserm.fr	GRCh37	11	45891095	45891095	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000443527.2:c.984G>A	p.Gly328=	p.G328=	ENST00000443527	NM_021117.3	328	ggG/ggA	0	not done		synonymous	
MRPL10		inserm.fr	GRCh37	17	45904022	45904022	+	synonymous_variant	Silent	SNP	C	A	A			BCM423T																					ENST00000290208.7:c.543G>T	p.Val181=	p.V181=	ENST00000290208		181	gtG/gtT	0	validated		synonymous	
CLIC5		inserm.fr	GRCh37	6	45909374	45909374	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000185206.6:c.793G>T	p.Ala265Ser	p.A265S	ENST00000185206	NM_001114086.1	265	Gca/Tca	0	not done		benign	
SCRN2		inserm.fr	GRCh37	17	45915782	45915782	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000290216.9:c.973G>T	p.Val325Leu	p.V325L	ENST00000290216	NM_001145023.1	325	Gtg/Ttg	0	not done		benign	
FBLN1		inserm.fr	GRCh37	22	45923879	45923879	+	synonymous_variant	Silent	SNP	C	A	A			CHC218T																					ENST00000327858.6:c.474C>A	p.Leu158=	p.L158=	ENST00000327858	NM_006486.2	158	ctC/ctA	0	not done		synonymous	
MAPK8IP1		inserm.fr	GRCh37	11	45924314	45924314	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000241014.2:c.996G>A	p.Glu332=	p.E332=	ENST00000241014	NM_005456.3	332	gaG/gaA	0	not done		synonymous	
MAPK8IP1		inserm.fr	GRCh37	11	45924376	45924376	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM257T																					ENST00000241014.2:c.1058G>A	p.Arg353Gln	p.R353Q	ENST00000241014	NM_005456.3	353	cGg/cAg	0	validated		benign	
SP6		inserm.fr	GRCh37	17	45925562	45925562	+	synonymous_variant	Silent	SNP	G	A	A			CHC155T																					ENST00000536300.1:c.234C>T	p.Cys78=	p.C78=	ENST00000536300	NM_001258248.1	78	tgC/tgT	0	validated		synonymous	
SP6		inserm.fr	GRCh37	17	45925604	45925604	+	synonymous_variant	Silent	SNP	C	A	A			CHC1754T																					ENST00000536300.1:c.192G>T	p.Ser64=	p.S64=	ENST00000536300	NM_001258248.1	64	tcG/tcT	0	not done		synonymous	
IGFBP1		inserm.fr	GRCh37	7	45932647	45932647	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000275525.3:c.737G>A	p.Arg246Lys	p.R246K	ENST00000275525	NM_000596.2	246	aGg/aAg	0	not done		benign	
FBLN1		inserm.fr	GRCh37	22	45938143	45938143	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1725T																					ENST00000327858.6:c.1175G>A	p.Gly392Asp	p.G392D	ENST00000327858	NM_006486.2	392	gGc/gAc	0	not done		probablydamaging	
ALOX5		inserm.fr	GRCh37	10	45938542	45938542	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1624T																					ENST00000374391.2:c.1329C>A	p.Asp443Glu	p.D443E	ENST00000374391	NM_000698.3	443	gaC/gaA	0	validated		benign	
GYLTL1B		inserm.fr	GRCh37	11	45947625	45947625	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC793T																					ENST00000531526.1:c.805G>A	p.Ala269Thr	p.A269T	ENST00000531526	NM_152312.3	269	Gct/Act	0	validated		benign	
GYLTL1B		inserm.fr	GRCh37	11	45949812	45949812	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000531526.1:c.1839G>A	p.Ala613=	p.A613=	ENST00000531526	NM_152312.3	613	gcG/gcA	0	not done		synonymous	
MARCH8		inserm.fr	GRCh37	10	45956820	45956820	+	synonymous_variant	Silent	SNP	G	A	A			CHC429T																					ENST00000395771.3:c.282C>T	p.Ile94=	p.I94=	ENST00000395771	NM_001002265.1	94	atC/atT	0	validated		synonymous	
KRTAP10-2		inserm.fr	GRCh37	21	45970774	45970774	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2128T																					ENST00000391621.1:c.568C>T	p.Pro190Ser	p.P190S	ENST00000391621	NM_198693.2	190	Cct/Tct	0	not done		benign	
FOSB		inserm.fr	GRCh37	19	45974174	45974174	+	synonymous_variant	Silent	SNP	C	A	A			CHC304T																					ENST00000353609.3:c.414C>A	p.Ala138=	p.A138=	ENST00000353609	NM_006732.2	138	gcC/gcA	0	validated		synonymous	
KRTAP10-3		inserm.fr	GRCh37	21	45978533	45978533	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000391620.1:c.66C>T	p.Cys22=	p.C22=	ENST00000391620	NM_198696.2	22	tgC/tgT	0	not done		synonymous	
FYCO1		inserm.fr	GRCh37	3	46008489	46008489	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1531T																					ENST00000296137.2:c.2337A>T	p.Glu779Asp	p.E779D	ENST00000296137	NM_024513.3	779	gaA/gaT	0	not done		probablydamaging	
KRTAP10-6		inserm.fr	GRCh37	21	46011298	46011298	+	synonymous_variant	Silent	SNP	G	A	A			CHC1775T																					ENST00000400368.1:c.1068C>T	p.Ser356=	p.S356=	ENST00000400368	NM_198688.2	356	agC/agT	0	validated		synonymous	
KRTAP10-6		inserm.fr	GRCh37	21	46011298	46011298	+	synonymous_variant	Silent	SNP	G	A	A			CHC1743T																					ENST00000400368.1:c.1068C>T	p.Ser356=	p.S356=	ENST00000400368	NM_198688.2	356	agC/agT	0	not done		synonymous	
KRTAP10-7		inserm.fr	GRCh37	21	46021331	46021331	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000380102.2:c.810C>A	p.Cys270Ter	p.C270*	ENST00000380102	NM_198689.2	270	tgC/tgA	0	not done		damaging	
GABRG1		inserm.fr	GRCh37	4	46066475	46066475	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000295452.4:c.608C>T	p.Pro203Leu	p.P203L	ENST00000295452	NM_173536.3	203	cCa/cTa	0	not done		probablydamaging	
GABRG1		inserm.fr	GRCh37	4	46066503	46066503	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC302T									Valid												ENST00000295452.4:c.580A>T	p.Asn194Tyr	p.N194Y	ENST00000295452	NM_173536.3	194	Aac/Tac	0	validated		probablydamaging	
PELP1		inserm.fr	GRCh37	17	4607315	4607315	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC320T																					ENST00000574876.1:c.92C>T	p.Pro31Leu	p.P31L	ENST00000574876		31	cCg/cTg	0	validated		probablydamaging	
NASP		inserm.fr	GRCh37	1	46073323	46073323	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1739T																					ENST00000350030.3:c.740G>A	p.Gly247Glu	p.G247E	ENST00000350030	NM_002482.3	247	gGa/gAa	0	not done		benign	
NASP		inserm.fr	GRCh37	1	46073323	46073323	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2113T																					ENST00000350030.3:c.740G>A	p.Gly247Glu	p.G247E	ENST00000350030	NM_002482.3	247	gGa/gAa	0	not done		benign	
NASP		inserm.fr	GRCh37	1	46073323	46073323	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2216T																					ENST00000350030.3:c.740G>A	p.Gly247Glu	p.G247E	ENST00000350030	NM_002482.3	247	gGa/gAa	0	not done		benign	
NASP		inserm.fr	GRCh37	1	46073504	46073504	+	synonymous_variant	Silent	SNP	G	A	A			CHC1566T																					ENST00000350030.3:c.921G>A	p.Val307=	p.V307=	ENST00000350030	NM_002482.3	307	gtG/gtA	0	not done		synonymous	
NASP		inserm.fr	GRCh37	1	46073504	46073504	+	synonymous_variant	Silent	SNP	G	A	A			CHC1739T																					ENST00000350030.3:c.921G>A	p.Val307=	p.V307=	ENST00000350030	NM_002482.3	307	gtG/gtA	0	not done		synonymous	
KRTAP12-3		inserm.fr	GRCh37	21	46078001	46078001	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCB109T									Valid												ENST00000397907.1:c.105C>A	p.Cys35Ter	p.C35*	ENST00000397907	NM_198697.2	35	tgC/tgA	0	validated		damaging	
KRTAP12-3		inserm.fr	GRCh37	21	46078106	46078106	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC896T																					ENST00000397907.1:c.210C>A	p.Cys70Ter	p.C70*	ENST00000397907	NM_198697.2	70	tgC/tgA	0	not done		damaging	
NASP		inserm.fr	GRCh37	1	46082349	46082349	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1616T																					ENST00000350030.3:c.2131G>A	p.Asp711Asn	p.D711N	ENST00000350030	NM_002482.3	711	Gat/Aat	0	not done		possiblydamaging	
GABRG1		inserm.fr	GRCh37	4	46099292	46099292	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1602T																					ENST00000295452.4:c.179A>T	p.His60Leu	p.H60L	ENST00000295452	NM_173536.3	60	cAt/cTt	0	not done		probablydamaging	
COPZ2		inserm.fr	GRCh37	17	46111293	46111293	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000006101.4:c.198C>T	p.Phe66=	p.F66=	ENST00000006101	NM_016429.2	66	ttC/ttT	0	not done			
GPBP1L1		inserm.fr	GRCh37	1	46120342	46120342	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1626T																					ENST00000355105.3:c.350A>T	p.His117Leu	p.H117L	ENST00000355105	NM_021639.4	117	cAt/cTt	0	not done		probablydamaging	
GABRG1		inserm.fr	GRCh37	4	46125859	46125859	+	synonymous_variant	Silent	SNP	G	A	A			CHC121T																					ENST00000295452.4:c.72C>T	p.Val24=	p.V24=	ENST00000295452	NM_173536.3	24	gtC/gtT	0	validated		synonymous	
GABRG1		inserm.fr	GRCh37	4	46125866	46125866	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1747T																					ENST00000295452.4:c.65G>T	p.Arg22Met	p.R22M	ENST00000295452	NM_173536.3	22	aGg/aTg	0	not done		possiblydamaging	
FAM194B		inserm.fr	GRCh37	13	46170999	46170999	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000298738.2:c.142C>T	p.Pro48Ser	p.P48S	ENST00000298738	NM_182542.2	48	Cca/Tca	0	not done		benign	
GIPR		inserm.fr	GRCh37	19	46173941	46173941	+	synonymous_variant	Silent	SNP	C	A	A			CHC197T																					ENST00000590918.1:c.121C>A	p.Arg41=	p.R41=	ENST00000590918	NM_000164.2	41	Cgg/Agg	0	validated		synonymous	
GIPR		inserm.fr	GRCh37	19	46173949	46173949	+	synonymous_variant	Silent	SNP	C	A	A			CHC2211T																					ENST00000590918.1:c.129C>A	p.Arg43=	p.R43=	ENST00000590918	NM_000164.2	43	cgC/cgA	0	validated		synonymous	
GIPR		inserm.fr	GRCh37	19	46180319	46180319	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000590918.1:c.746G>A	p.Gly249Glu	p.G249E	ENST00000590918	NM_000164.2	249	gGa/gAa	0	not done		benign	
FBXO46		inserm.fr	GRCh37	19	46215940	46215940	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000317683.3:c.814C>T	p.Arg272Cys	p.R272C	ENST00000317683	NM_001080469.1	272	Cgt/Tgt	0	validated		probablydamaging	
ARRB2		inserm.fr	GRCh37	17	4621937	4621937	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1708T																					ENST00000412477.3:c.800G>A	p.Ser267Asn	p.S267N	ENST00000412477		267	aGc/aAc	0	not done		benign	
ARRB2		inserm.fr	GRCh37	17	4622654	4622654	+	synonymous_variant	Silent	SNP	C	A	A			CHC1201T																					ENST00000412477.3:c.919C>A	p.Arg307=	p.R307=	ENST00000412477		307	Cgg/Agg	0	validated		synonymous	
ARID2		inserm.fr	GRCh37	12	46244898	46244898	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T									Valid												ENST00000334344.6:c.2992G>A	p.Gly998Arg	p.G998R	ENST00000334344	NM_152641.2	998	Gga/Aga	0	not done		probablydamaging	
ARID2		inserm.fr	GRCh37	12	46245182	46245182	+	synonymous_variant	Silent	SNP	T	A	A			CHC896T									Valid												ENST00000334344.6:c.3276T>A	p.Ala1092=	p.A1092=	ENST00000334344	NM_152641.2	1092	gcT/gcA	0	not done		synonymous	
TRIM68		inserm.fr	GRCh37	11	4624537	4624537	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1534T																					ENST00000300747.5:c.460A>T	p.Lys154Ter	p.K154*	ENST00000300747	NM_018073.6	154	Aaa/Taa	0	validated		damaging	
C16orf96		inserm.fr	GRCh37	16	4625333	4625333	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000444310.4:c.852G>A	p.Glu284=	p.E284=	ENST00000444310	NM_001145011.1	284	gaG/gaA	0	not done		synonymous	
C16orf96		inserm.fr	GRCh37	16	4626112	4626112	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000444310.4:c.1631G>A	p.Gly544Asp	p.G544D	ENST00000444310	NM_001145011.1	544	gGc/gAc	0	not done		possiblydamaging	
DMWD		inserm.fr	GRCh37	19	46289264	46289264	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1747T																					ENST00000270223.6:c.1490C>T	p.Pro497Leu	p.P497L	ENST00000270223	NM_004943.1	497	cCg/cTg	0	validated		probablydamaging	
CCR3		inserm.fr	GRCh37	3	46306642	46306642	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC469T																					ENST00000545097.1:c.56G>A	p.Arg19Lys	p.R19K	ENST00000545097	NM_001164680.1	19	aGa/aAa	0	validated			
RSPH6A		inserm.fr	GRCh37	19	46308229	46308229	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC361TA									Valid												ENST00000221538.3:c.934G>T	p.Glu312Ter	p.E312*	ENST00000221538	NM_030785.3	312	Gag/Tag	0	validated		damaging	
SULF2		inserm.fr	GRCh37	20	46311782	46311782	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM791T																					ENST00000359930.4:c.1020G>T	p.Arg340Ser	p.R340S	ENST00000359930	NM_018837.3	340	agG/agT	0	validated		probablydamaging	
ITGB2		inserm.fr	GRCh37	21	46321418	46321418	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1205T																					ENST00000397850.2:c.730G>T	p.Ala244Ser	p.A244S	ENST00000397850		244	Gcc/Tcc	0	not done		probablydamaging	
WNT7B		inserm.fr	GRCh37	22	46345964	46345964	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC796T																					ENST00000339464.4:c.134C>T	p.Ala45Val	p.A45V	ENST00000339464	NM_058238.2	45	gCc/gTc	0	validated		benign	
C16orf96		inserm.fr	GRCh37	16	4637049	4637049	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000444310.4:c.2362G>A	p.Ala788Thr	p.A788T	ENST00000444310	NM_001145011.1	788	Gct/Act	0	not done		benign	
CCR2		inserm.fr	GRCh37	3	46400038	46400038	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000292301.4:c.941+79G>A		*314*	ENST00000292301	NM_001123041.2			0	not done		synonymous	
CCR5		inserm.fr	GRCh37	3	46414711	46414711	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000343801.4:c.318G>A	p.Gly106=	p.G106=	ENST00000343801	NM_000579.3	106	ggG/ggA	0	not done		synonymous	
ZMYND15		inserm.fr	GRCh37	17	4644178	4644178	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000573751.2:c.335G>A	p.Gly112Glu	p.G112E	ENST00000573751		112	gGg/gAg	0	not done		probablydamaging	
ZMYND15		inserm.fr	GRCh37	17	4644303	4644303	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM265T																					ENST00000573751.2:c.460T>A	p.Ser154Thr	p.S154T	ENST00000573751		154	Tcc/Acc	0	validated		benign	
CCRL2		inserm.fr	GRCh37	3	46449772	46449772	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000357392.4:c.238G>A	p.Gly80Arg	p.G80R	ENST00000357392	NM_001130910.1	80	Gga/Aga	0	not done		possiblydamaging	
NOVA2		inserm.fr	GRCh37	19	46457080	46457080	+	synonymous_variant	Silent	SNP	G	A	A			BCB307T																					ENST00000263257.5:c.354C>T	p.Ile118=	p.I118=	ENST00000263257	NM_002516.2	118	atC/atT	0	validated		synonymous	
ZMYND15		inserm.fr	GRCh37	17	4646706	4646706	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000573751.2:c.1253G>A	p.Arg418Lys	p.R418K	ENST00000573751		418	aGa/aAa	0	not done		possiblydamaging	
LTF		inserm.fr	GRCh37	3	46480900	46480900	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1211T																					ENST00000231751.4:c.1795C>T	p.Arg599Trp	p.R599W	ENST00000231751	NM_002343.3	599	Cgg/Tgg	0	not done		probablydamaging	
LTF		inserm.fr	GRCh37	3	46484933	46484933	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000231751.4:c.1654C>T	p.Arg552Trp	p.R552W	ENST00000231751	NM_002343.3	552	Cgg/Tgg	0	not done		probablydamaging	
PGLYRP1		inserm.fr	GRCh37	19	46526231	46526231	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1148T																					ENST00000008938.4:c.49C>T	p.Arg17Ter	p.R17*	ENST00000008938	NM_005091.2	17	Cga/Tga	0	not done		damaging	
IGFL4		inserm.fr	GRCh37	19	46543167	46543167	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1566T																					ENST00000377697.1:c.358A>T	p.Arg120Ter	p.R120*	ENST00000377697	NM_001002923.1	120	Aga/Tga	0	not done		damaging	
ZC3H13		inserm.fr	GRCh37	13	46543510	46543510	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC2099T																					ENST00000282007.3:c.3169C>T	p.Gln1057Ter	p.Q1057*	ENST00000282007	NM_015070.3	1057	Cag/Tag	0	not done		damaging	
OR51D1		inserm.fr	GRCh37	11	4661322	4661322	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000357605.2:c.302G>A	p.Gly101Asp	p.G101D	ENST00000357605	NM_001004751.2	101	gGc/gAc	0	not done		benign	
HOXB3		inserm.fr	GRCh37	17	46628231	46628231	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM529T																					ENST00000470495.1:c.761C>T	p.Ser254Leu	p.S254L	ENST00000470495		254	tCg/tTg	0	validated		probablydamaging	
HOXB3		inserm.fr	GRCh37	17	46628388	46628388	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000470495.1:c.604G>T	p.Glu202Ter	p.E202*	ENST00000470495		202	Gag/Tag	0	not done		damaging	
SLC25A27		inserm.fr	GRCh37	6	46632611	46632611	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371347.5:c.607G>A	p.Val203Met	p.V203M	ENST00000371347	NM_004277.4	203	Gtg/Atg	0	not done		probablydamaging	
SLC38A1		inserm.fr	GRCh37	12	46633486	46633486	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1749T																					ENST00000398637.5:c.98A>T	p.Glu33Val	p.E33V	ENST00000398637	NM_030674.3	33	gAa/gTa	0	not done		probablydamaging	
SHCBP1		inserm.fr	GRCh37	16	46637909	46637909	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC429T																					ENST00000303383.3:c.1070G>T	p.Gly357Val	p.G357V	ENST00000303383	NM_024745.4	357	gGt/gTt	0	validated		benign	
ADARB1		inserm.fr	GRCh37	21	46640868	46640868	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000539173.1:c.1985G>A	p.Gly662Asp	p.G662D	ENST00000539173	NM_015833.3	662	gGc/gAc	0	not done		possiblydamaging	
CPB2		inserm.fr	GRCh37	13	46648026	46648026	+	synonymous_variant	Silent	SNP	G	A	A			CHC1081T																					ENST00000181383.4:c.573C>T	p.Cys191=	p.C191=	ENST00000181383	NM_001872.4	191	tgC/tgT	0	validated		synonymous	
HOXB4		inserm.fr	GRCh37	17	46654240	46654240	+	synonymous_variant	Silent	SNP	G	A	A			CHC1061T																					ENST00000332503.5:c.600C>T	p.Cys200=	p.C200=	ENST00000332503	NM_024015.4	200	tgC/tgT	0	validated		synonymous	
HOXB4		inserm.fr	GRCh37	17	46654341	46654341	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1205T																					ENST00000332503.5:c.499A>T	p.Thr167Ser	p.T167S	ENST00000332503	NM_024015.4	167	Acc/Tcc	0	not done		probablydamaging	
TDRD6		inserm.fr	GRCh37	6	46656517	46656517	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000316081.6:c.652G>A	p.Ala218Thr	p.A218T	ENST00000316081	NM_001010870.2	218	Gct/Act	0	not done		possiblydamaging	
TDRD6		inserm.fr	GRCh37	6	46656526	46656526	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000316081.6:c.661G>A	p.Gly221Ser	p.G221S	ENST00000316081	NM_001010870.2	221	Ggc/Agc	0	not done		benign	
TDRD6		inserm.fr	GRCh37	6	46656564	46656564	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000316081.6:c.699G>A	p.Lys233=	p.K233=	ENST00000316081	NM_001010870.2	233	aaG/aaA	0	not done		synonymous	
TDRD6		inserm.fr	GRCh37	6	46657906	46657906	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1629T																					ENST00000316081.6:c.2041G>A	p.Ala681Thr	p.A681T	ENST00000316081	NM_001010870.2	681	Gcc/Acc	0	not done		benign	
PKDREJ		inserm.fr	GRCh37	22	46658741	46658741	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000253255.5:c.479C>T	p.Ala160Val	p.A160V	ENST00000253255	NM_006071.1	160	gCc/gTc	0	not done		benign	
TDRD6		inserm.fr	GRCh37	6	46659699	46659699	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000316081.6:c.3834G>A	p.Glu1278=	p.E1278=	ENST00000316081	NM_001010870.2	1278	gaG/gaA	0	not done		synonymous	
TTC38		inserm.fr	GRCh37	22	46671319	46671319	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC1177T																					ENST00000381031.3:c.539+1G>A		p.X180_splice	ENST00000381031	NM_017931.2			0	not done		damaging	
HOXB6		inserm.fr	GRCh37	17	46673795	46673795	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1137T																					ENST00000484302.2:c.655G>T	p.Glu219Ter	p.E219*	ENST00000484302		219	Gaa/Taa	0	not done		damaging	
TTC38		inserm.fr	GRCh37	22	46685330	46685330	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000381031.3:c.1114G>A	p.Ala372Thr	p.A372T	ENST00000381031	NM_017931.2	372	Gcc/Acc	0	not done		possiblydamaging	
HOXB7		inserm.fr	GRCh37	17	46688054	46688054	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000239165.7:c.227C>T	p.Ala76Val	p.A76V	ENST00000239165	NM_004502.3	76	gCc/gTc	0	not done		benign	
HOXB8		inserm.fr	GRCh37	17	46691832	46691832	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000239144.4:c.235C>T	p.His79Tyr	p.H79Y	ENST00000239144	NM_024016.3	79	Cac/Tac	0	not done		possiblydamaging	
HOXB8		inserm.fr	GRCh37	17	46691843	46691843	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000239144.4:c.224C>T	p.Ala75Val	p.A75V	ENST00000239144	NM_024016.3	75	gCc/gTc	0	not done		probablydamaging	
HOXB9		inserm.fr	GRCh37	17	46703173	46703173	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000311177.5:c.459C>T	p.Pro153=	p.P153=	ENST00000311177	NM_024017.4	153	ccC/ccT	0	not done		synonymous	
ARHGAP1		inserm.fr	GRCh37	11	46703617	46703617	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2111T																					ENST00000311956.4:c.433C>T	p.Arg145Trp	p.R145W	ENST00000311956	NM_004308.3	145	Cgg/Tgg	0	not done		probablydamaging	
GTSE1		inserm.fr	GRCh37	22	46704539	46704539	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC801T																					ENST00000454366.1:c.461T>A	p.Met154Lys	p.M154K	ENST00000454366	NM_016426.6	154	aTg/aAg	0	not done		probablydamaging	
RAD54L		inserm.fr	GRCh37	1	46726644	46726644	+	synonymous_variant	Silent	SNP	G	A	A			BCB231T																					ENST00000371975.4:c.723G>A	p.Leu241=	p.L241=	ENST00000371975	NM_003579.3	241	ctG/ctA	0	validated		synonymous	
ZNF408		inserm.fr	GRCh37	11	46726982	46726982	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1082T																					ENST00000311764.2:c.1732C>A	p.Pro578Thr	p.P578T	ENST00000311764	NM_024741.2	578	Ccc/Acc	0	validated		probablydamaging	
ALS2CL		inserm.fr	GRCh37	3	46727134	46727134	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC307T																					ENST00000318962.4:c.667G>T	p.Asp223Tyr	p.D223Y	ENST00000318962	NM_147129.3	223	Gat/Tat	0	validated		probablydamaging	
ZNF408		inserm.fr	GRCh37	11	46727146	46727146	+	synonymous_variant	Silent	SNP	G	A	A			BCM275T																					ENST00000311764.2:c.1896G>A	p.Glu632=	p.E632=	ENST00000311764	NM_024741.2	632	gaG/gaA	0	validated		synonymous	
F2		inserm.fr	GRCh37	11	46747502	46747502	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000311907.5:c.653G>A	p.Gly218Glu	p.G218E	ENST00000311907	NM_000506.3	218	gGg/gAg	0	not done		probablydamaging	
CELSR1		inserm.fr	GRCh37	22	46761532	46761532	+	synonymous_variant	Silent	SNP	G	A	A			CHC793T																					ENST00000262738.3:c.8355C>T	p.His2785=	p.H2785=	ENST00000262738	NM_014246.1	2785	caC/caT	0	validated		synonymous	
CELSR1		inserm.fr	GRCh37	22	46785219	46785219	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000262738.3:c.6523C>T	p.Leu2175=	p.L2175=	ENST00000262738	NM_014246.1	2175	Ctg/Ttg	0	not done		synonymous	
PRNP		inserm.fr	GRCh37	20	4680233	4680233	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000379440.4:c.367G>A	p.Gly123Arg	p.G123R	ENST00000379440	NM_001080121.1	123	Ggg/Agg	0	not done		probablydamaging	
CELSR1		inserm.fr	GRCh37	22	46804956	46804956	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000262738.3:c.5163C>T	p.Thr1721=	p.T1721=	ENST00000262738	NM_014246.1	1721	acC/acT	0	not done		synonymous	
HIF3A		inserm.fr	GRCh37	19	46807170	46807170	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000377670.4:c.42G>A	p.Leu14=	p.L14=	ENST00000377670	NM_152795.3	14	ctG/ctA	0	not done		synonymous	
NSUN4		inserm.fr	GRCh37	1	46810790	46810790	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000474844.1:c.411G>A	p.Gly137=	p.G137=	ENST00000474844	NM_199044.3	137	ggG/ggA	0	not done		synonymous	
HIF3A		inserm.fr	GRCh37	19	46811495	46811495	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC902T																					ENST00000377670.4:c.381C>A	p.His127Gln	p.H127Q	ENST00000377670	NM_152795.3	127	caC/caA	0	not done		benign	
CSNK2A1		inserm.fr	GRCh37	20	468128	468128	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1205T									Valid												ENST00000217244.3:c.916C>T	p.Arg306Ter	p.R306*	ENST00000217244	NM_177559.2	306	Cga/Tga	0	validated		damaging	
HIF3A		inserm.fr	GRCh37	19	46815890	46815890	+	synonymous_variant	Silent	SNP	C	A	A			CHC1053T																					ENST00000377670.4:c.1005C>A	p.Val335=	p.V335=	ENST00000377670	NM_152795.3	335	gtC/gtA	0	validated		synonymous	
LRRC63		inserm.fr	GRCh37	13	46824579	46824579	+	synonymous_variant	Silent	SNP	T	A	A			CHC1191T																					ENST00000595396.1:c.1179T>A	p.Leu393=	p.L393=	ENST00000595396	NM_001282460.1	393	ctT/ctA	0	not done		synonymous	
DPP9		inserm.fr	GRCh37	19	4682758	4682758	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000262960.9:c.2424C>T	p.His808=	p.H808=	ENST00000262960	NM_139159.4	808	caC/caT	0	validated		synonymous	
CELSR1		inserm.fr	GRCh37	22	46835148	46835148	+	synonymous_variant	Silent	SNP	C	A	A			CHC1154T																					ENST00000262738.3:c.4344G>T	p.Pro1448=	p.P1448=	ENST00000262738	NM_014246.1	1448	ccG/ccT	0	not done		synonymous	
HIF3A		inserm.fr	GRCh37	19	46842837	46842837	+	synonymous_variant	Silent	SNP	G	A	A			CHC1741T																					ENST00000377670.4:c.1968G>A	p.Gly656=	p.G656=	ENST00000377670	NM_152795.3	656	ggG/ggA	0	not done		synonymous	
PRSS42		inserm.fr	GRCh37	3	46875541	46875541	+	synonymous_variant	Silent	SNP	C	A	A			CHC304T																					ENST00000429665.1:c.45G>T	p.Leu15=	p.L15=	ENST00000429665	NM_182702.1	15	ctG/ctT	0	validated		synonymous	
FAAH		inserm.fr	GRCh37	1	46877817	46877817	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000243167.8:c.1359G>A	p.Val453=	p.V453=	ENST00000243167	NM_001441.2	453	gtG/gtA	0	not done		synonymous	
LRP4		inserm.fr	GRCh37	11	46886024	46886024	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC884T																					ENST00000378623.1:c.5218G>T	p.Val1740Leu	p.V1740L	ENST00000378623	NM_002334.3	1740	Gtg/Ttg	0	validated		benign	
COL18A1		inserm.fr	GRCh37	21	46899992	46899992	+	synonymous_variant	Silent	SNP	T	A	A			BCM325T																					ENST00000355480.5:c.1860T>A	p.Pro620=	p.P620=	ENST00000355480	NM_030582.3	620	ccT/ccA	0	validated		synonymous	
LRP4		inserm.fr	GRCh37	11	46917543	46917543	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2029T																					ENST00000378623.1:c.1075A>T	p.Asn359Tyr	p.N359Y	ENST00000378623	NM_002334.3	359	Aat/Tat	0	not done		possiblydamaging	
PHF16		inserm.fr	GRCh37	X	46917586	46917586	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000218343.4:c.1579G>A	p.Ala527Thr	p.A527T	ENST00000218343	NM_014735.3	527	Gca/Aca	0	not done		benign	
GLTPD2		inserm.fr	GRCh37	17	4692315	4692315	+	synonymous_variant	Silent	SNP	G	A	A			CHC1180T																					ENST00000331264.7:c.9G>A	p.Val3=	p.V3=	ENST00000331264	NM_001014985.2	3	gtG/gtA	0	validated		synonymous	
CELSR1		inserm.fr	GRCh37	22	46931699	46931699	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262738.3:c.1369C>T	p.Pro457Ser	p.P457S	ENST00000262738	NM_014246.1	457	Ccc/Tcc	0	not done		probablydamaging	
COL18A1		inserm.fr	GRCh37	21	46932258	46932258	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1545T																					ENST00000355480.5:c.4506T>A	p.His1502Gln	p.H1502Q	ENST00000355480	NM_030582.3	1502	caT/caA	0	not done		benign	
GPT2		inserm.fr	GRCh37	16	46943627	46943627	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000340124.4:c.608G>A	p.Gly203Asp	p.G203D	ENST00000340124	NM_133443.2	203	gGc/gAc	0	not done		benign	
GPT2		inserm.fr	GRCh37	16	46943709	46943709	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000340124.4:c.690G>A	p.Gln230=	p.Q230=	ENST00000340124	NM_133443.2	230	caG/caA	0	not done		synonymous	
KIAA0226L		inserm.fr	GRCh37	13	46946285	46946285	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000429979.1:c.326C>T	p.Thr109Ile	p.T109I	ENST00000429979	NM_025113.2	109	aCa/aTa	0	not done		benign	
GPR110		inserm.fr	GRCh37	6	46969305	46969305	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC889T																					ENST00000371253.2:c.2593-1G>T		p.X865_splice	ENST00000371253	NM_153840.2			0	not done		possiblydamaging	
PNMAL1		inserm.fr	GRCh37	19	46973061	46973061	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000313683.10:c.1232C>T	p.Ala411Val	p.A411V	ENST00000313683	NM_018215.3	411	gCc/gTc	0	not done		benign	
GPR110		inserm.fr	GRCh37	6	46991851	46991851	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000371253.2:c.380C>T	p.Ala127Val	p.A127V	ENST00000371253	NM_153840.2	127	gCt/gTt	0	not done		benign	
DPP9		inserm.fr	GRCh37	19	4700246	4700246	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1183T																					ENST00000262960.9:c.1056G>T	p.Gln352His	p.Q352H	ENST00000262960	NM_139159.4	352	caG/caT	0	validated		possiblydamaging	
NBEAL2		inserm.fr	GRCh37	3	47033010	47033010	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000450053.3:c.757G>A	p.Ala253Thr	p.A253T	ENST00000450053	NM_015175.2	253	Gca/Aca	0	not done		benign	
NBEAL2		inserm.fr	GRCh37	3	47037227	47037227	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000450053.3:c.1922G>A	p.Gly641Glu	p.G641E	ENST00000450053	NM_015175.2	641	gGg/gAg	0	not done		probablydamaging	
NBEAL2		inserm.fr	GRCh37	3	47040452	47040452	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1736T																					ENST00000450053.3:c.3388G>A	p.Val1130Met	p.V1130M	ENST00000450053	NM_015175.2	1130	Gtg/Atg	0	not done		possiblydamaging	
NBEAL2		inserm.fr	GRCh37	3	47042587	47042587	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2215T																					ENST00000450053.3:c.4402G>A	p.Glu1468Lys	p.E1468K	ENST00000450053	NM_015175.2	1468	Gag/Aag	0	not done		probablydamaging	
LINC01118		inserm.fr	GRCh37	2	47044040	47044040	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000409912.1:c.77G>A	p.Arg26Lys	p.R26K	ENST00000409912		26	aGg/aAg	0	not done			
RBM10		inserm.fr	GRCh37	X	47044729	47044729	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000329236.7:c.1895G>A	p.Ser632Asn	p.S632N	ENST00000329236	NM_001204466.1	632	aGc/aAc	0	not done		benign	
NBEAL2		inserm.fr	GRCh37	3	47045765	47045765	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000450053.3:c.6080C>A	p.Pro2027His	p.P2027H	ENST00000450053	NM_015175.2	2027	cCc/cAc	0	not done		possiblydamaging	
MOB3C		inserm.fr	GRCh37	1	47078852	47078852	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2098T																					ENST00000271139.8:c.298G>T	p.Val100Leu	p.V100L	ENST00000271139	NM_145279.4	100	Gtg/Ttg	0	not done		probablydamaging	
USP11		inserm.fr	GRCh37	X	47100702	47100702	+	synonymous_variant	Silent	SNP	C	A	A			CHC313T																					ENST00000218348.3:c.1002C>A	p.Thr334=	p.T334=	ENST00000218348	NM_004651.3	334	acC/acA	0	validated		synonymous	
USP11		inserm.fr	GRCh37	X	47100981	47100981	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000218348.3:c.1191G>A	p.Gln397=	p.Q397=	ENST00000218348	NM_004651.3	397	caG/caA	0	not done		synonymous	
SETD2		inserm.fr	GRCh37	3	47125284	47125284	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC2099T																					ENST00000409792.3:c.5986C>T	p.Gln1996Ter	p.Q1996*	ENST00000409792	NM_014159.6	1996	Caa/Taa	0	not done		damaging	
GNG8		inserm.fr	GRCh37	19	47137338	47137338	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000300873.4:c.208C>T	p.Leu70Phe	p.L70F	ENST00000300873	NM_033258.1	70	Ctc/Ttc	0	not done		probablydamaging	
SETD2		inserm.fr	GRCh37	3	47147552	47147552	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC2115T																					ENST00000409792.3:c.4774C>T	p.Arg1592Ter	p.R1592*	ENST00000409792	NM_014159.6	1592	Cga/Tga	0	not done		damaging	
DACT3		inserm.fr	GRCh37	19	47151931	47151931	+	synonymous_variant	Silent	SNP	G	A	A			BCB231T																					ENST00000391916.2:c.1698C>T	p.Asp566=	p.D566=	ENST00000391916	NM_145056.2	566	gaC/gaT	0	validated		synonymous	
CSTPP1		inserm.fr	GRCh37	11	47178771	47178771	+	splice_donor_variant	Splice_Site	SNP	T	A	A			CHC2200T																					ENST00000378615.3:c.647+2T>A		p.X216_splice	ENST00000378615				0	not done		damaging	
ARFGAP2		inserm.fr	GRCh37	11	47188328	47188328	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1754T																					ENST00000524782.1:c.1315N>T	p.Arg439Trp	p.R439W	ENST00000524782	NM_032389.4	439	Cgg/Tgg	0	not done		probablydamaging	
PLD2		inserm.fr	GRCh37	17	4719920	4719920	+	synonymous_variant	Silent	SNP	C	A	A			CHC1065T																					ENST00000263088.6:c.1461C>A	p.Pro487=	p.P487=	ENST00000263088	NM_001243108.1	487	ccC/ccA	0	validated		synonymous	
PLD2		inserm.fr	GRCh37	17	4720300	4720300	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1035T																					ENST00000263088.6:c.1651C>A	p.Pro551Thr	p.P551T	ENST00000263088	NM_001243108.1	551	Ccg/Acg	0	validated		benign	
PRKD2		inserm.fr	GRCh37	19	47219546	47219546	+	synonymous_variant	Silent	SNP	G	A	A			CHC313T																					ENST00000433867.1:c.82C>T	p.Leu28=	p.L28=	ENST00000433867	NM_001079881.1	28	Ctg/Ttg	0	validated		synonymous	
STRN4		inserm.fr	GRCh37	19	47249438	47249438	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM265T																					ENST00000391910.3:c.250G>T	p.Ala84Ser	p.A84S	ENST00000391910		84	Gcc/Tcc	0	validated		probablydamaging	
FKRP		inserm.fr	GRCh37	19	47259070	47259070	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000318584.5:c.363G>A	p.Val121=	p.V121=	ENST00000318584	NM_024301.4	121	gtG/gtA	0	not done		synonymous	
FKRP		inserm.fr	GRCh37	19	47259506	47259506	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000318584.5:c.799G>A	p.Ala267Thr	p.A267T	ENST00000318584	NM_024301.4	267	Gcg/Acg	0	not done		benign	
NR1H3		inserm.fr	GRCh37	11	47270358	47270358	+	5_prime_UTR_variant	5'UTR	SNP	C	A	A			CHC059T																					ENST00000256997.3:c.-18G>T		*6*	ENST00000256997	NM_001610.2			0	validated			
PREX1		inserm.fr	GRCh37	20	47282822	47282822	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC1743T																					ENST00000371941.3:c.1737C>T	p.His579=	p.H579=	ENST00000371941	NM_020820.3	579	caC/caT	0	not done		damaging	
LOC25845		inserm.fr	GRCh37	5	472901	472901	+	synonymous_variant	Silent	SNP	G	A	A			CHC1182T																					ENST00000342584.3:c.150C>T	p.Pro50=	p.P50=	ENST00000342584		50	ccC/ccT	0	not done		synonymous	
MADD		inserm.fr	GRCh37	11	47296252	47296252	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000311027.5:c.201G>A	p.Arg67=	p.R67=	ENST00000311027	NM_003682.3	67	cgG/cgA	0	not done		synonymous	
PHOSPHO1		inserm.fr	GRCh37	17	47301656	47301656	+	synonymous_variant	Silent	SNP	C	A	A			CHC320T																					ENST00000413580.1:c.831G>T	p.Thr277=	p.T277=	ENST00000413580	NM_178500.3	277	acG/acT	0	validated		synonymous	
ZNF41		inserm.fr	GRCh37	X	47308243	47308243	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000377065.4:c.926C>T	p.Pro309Leu	p.P309L	ENST00000377065	NM_153380.2	309	cCc/cTc	0	not done		benign	
ZNF41		inserm.fr	GRCh37	X	47315404	47315404	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000377065.4:c.211C>T	p.Pro71Ser	p.P71S	ENST00000377065	NM_153380.2	71	Ccc/Tcc	0	not done		possiblydamaging	
MGRN1		inserm.fr	GRCh37	16	4731735	4731735	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC917T																					ENST00000262370.7:c.1316G>A	p.Ser439Asn	p.S439N	ENST00000262370	NM_015246.3	439	aGc/aAc	0	validated		benign	
MGRN1		inserm.fr	GRCh37	16	4733898	4733898	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262370.7:c.1583G>A	p.Cys528Tyr	p.C528Y	ENST00000262370	NM_015246.3	528	tGt/tAt	0	not done		benign	
TNS3		inserm.fr	GRCh37	7	47343158	47343158	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC805T																					ENST00000398879.1:c.2847G>T	p.Trp949Cys	p.W949C	ENST00000398879		949	tgG/tgT	0	not done		possiblydamaging	
ESD		inserm.fr	GRCh37	13	47354086	47354086	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1603T																					ENST00000378720.3:c.584A>T	p.Asp195Val	p.D195V	ENST00000378720	NM_001984.1	195	gAt/gTt	0	not done		possiblydamaging	
MYBPC3		inserm.fr	GRCh37	11	47371604	47371604	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000545968.1:c.466C>T	p.Leu156Phe	p.L156F	ENST00000545968	NM_000256.3	156	Ctc/Ttc	0	not done		probablydamaging	
SPI1		inserm.fr	GRCh37	11	47377050	47377050	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1598T																					ENST00000227163.4:c.544C>T	p.Arg182Cys	p.R182C	ENST00000227163		182	Cgc/Tgc	0	not done		probablydamaging	
KLHL18		inserm.fr	GRCh37	3	47384319	47384319	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC2141T																					ENST00000232766.5:c.1337G>A	p.Ser446Asn	p.S446N	ENST00000232766	NM_025010.4	446	aGt/aAt	0	not done		probablydamaging	
MYO5B		inserm.fr	GRCh37	18	47390669	47390669	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM321T																					ENST00000285039.7:c.3685C>T	p.Gln1229Ter	p.Q1229*	ENST00000285039	NM_001080467.2	1229	Cag/Tag	0	validated		damaging	
CYP4A11		inserm.fr	GRCh37	1	47399686	47399686	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1192T																					ENST00000310638.4:c.1154C>T	p.Pro385Leu	p.P385L	ENST00000310638	NM_000778.3	385	cCg/cTg	0	not done		probablydamaging	
COL6A1		inserm.fr	GRCh37	21	47410728	47410728	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000361866.3:c.1044G>A	p.Ser348=	p.S348=	ENST00000361866	NM_001848.2	348	tcG/tcA	0	not done		synonymous	
COL6A1		inserm.fr	GRCh37	21	47412687	47412687	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1052T																					ENST00000361866.3:c.1298G>A	p.Arg433Gln	p.R433Q	ENST00000361866	NM_001848.2	433	cGg/cAg	0	validated		benign	
COL6A1		inserm.fr	GRCh37	21	47422313	47422313	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC433T									Valid												ENST00000361866.3:c.2248C>A	p.Gln750Lys	p.Q750K	ENST00000361866	NM_001848.2	750	Cag/Aag	0	validated		benign	
COL6A1		inserm.fr	GRCh37	21	47423394	47423394	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2206T																					ENST00000361866.3:c.2554G>A	p.Ala852Thr	p.A852T	ENST00000361866	NM_001848.2	852	Gcc/Acc	0	not done		possiblydamaging	
ARAF		inserm.fr	GRCh37	X	47424300	47424300	+	splice_donor_variant	Splice_Site	SNP	T	A	A			CHC051T									Valid												ENST00000377045.4:c.303+2T>A		p.X101_splice	ENST00000377045	NM_001654.4			0	validated		damaging	
ARHGAP35		inserm.fr	GRCh37	19	47425205	47425205	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1629T																					ENST00000404338.3:c.3273G>A	p.Met1091Ile	p.M1091I	ENST00000404338	NM_004491.4	1091	atG/atA	0	not done		benign	
SYN1		inserm.fr	GRCh37	X	47435899	47435899	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000295987.7:c.978C>T	p.Tyr326=	p.Y326=	ENST00000295987	NM_006950.3	326	taC/taT	0	not done		synonymous	
PTPN23		inserm.fr	GRCh37	3	47452081	47452081	+	synonymous_variant	Silent	SNP	C	A	A			CHC197T																					ENST00000265562.4:c.2793C>A	p.Pro931=	p.P931=	ENST00000265562	NM_015466.2	931	ccC/ccA	0	validated		synonymous	
SYN1		inserm.fr	GRCh37	X	47478909	47478909	+	synonymous_variant	Silent	SNP	G	A	A			CHC313T																					ENST00000295987.7:c.219C>T	p.Gly73=	p.G73=	ENST00000295987	NM_006950.3	73	ggC/ggT	0	validated		synonymous	
ITFG1		inserm.fr	GRCh37	16	47494935	47494935	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2358T																					ENST00000320640.6:c.22C>T	p.Pro8Ser	p.P8S	ENST00000320640	NM_030790.3	8	Ccg/Tcg	0	validated		probablydamaging	
ITFG1		inserm.fr	GRCh37	16	47494952	47494952	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM325T									Valid												ENST00000320640.6:c.5C>T	p.Ala2Val	p.A2V	ENST00000320640	NM_030790.3	2	gCg/gTg	0	validated		possiblydamaging	
ELK1		inserm.fr	GRCh37	X	47498526	47498526	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000247161.3:c.422G>T	p.Gly141Val	p.G141V	ENST00000247161	NM_005229.4	141	gGc/gTc	0	not done		possiblydamaging	
MDGA2		inserm.fr	GRCh37	14	47504352	47504352	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM529T																					ENST00000426342.1:c.787C>T	p.Gln263Ter	p.Q263*	ENST00000426342	NM_182830.4	263	Caa/Taa	0	validated		damaging	
CELF1		inserm.fr	GRCh37	11	47504357	47504357	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1720T																					ENST00000532048.1:c.655G>T	p.Glu219Ter	p.E219*	ENST00000532048	NM_001172639.1	219	Gaa/Taa	0	not done		damaging	
TBC1D22A		inserm.fr	GRCh37	22	47507417	47507417	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000337137.4:c.1343G>A	p.Gly448Asp	p.G448D	ENST00000337137	NM_014346.2	448	gGc/gAc	0	not done		probablydamaging	
CELF1		inserm.fr	GRCh37	11	47508725	47508725	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1720T																					ENST00000532048.1:c.328A>T	p.Lys110Ter	p.K110*	ENST00000532048	NM_001172639.1	110	Aaa/Taa	0	not done		damaging	
CELF1		inserm.fr	GRCh37	11	47508787	47508787	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1205T									Valid												ENST00000532048.1:c.266G>T	p.Cys89Phe	p.C89F	ENST00000532048	NM_001172639.1	89	tGt/tTt	0	validated		probablydamaging	
CYP4X1		inserm.fr	GRCh37	1	47514237	47514237	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371901.3:c.1208G>A	p.Gly403Glu	p.G403E	ENST00000371901	NM_178033.1	403	gGg/gAg	0	not done		probablydamaging	
ANKS3		inserm.fr	GRCh37	16	4751513	4751513	+	synonymous_variant	Silent	SNP	G	A	A			CHC433T																					ENST00000304283.4:c.1041C>T	p.Pro347=	p.P347=	ENST00000304283	NM_133450.3	347	ccC/ccT	0	validated		synonymous	
MDGA2		inserm.fr	GRCh37	14	47530725	47530725	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC879T																					ENST00000426342.1:c.358A>T	p.Ile120Phe	p.I120F	ENST00000426342	NM_182830.4	120	Atc/Ttc	0	not done		probablydamaging	
MDGA2		inserm.fr	GRCh37	14	47530735	47530735	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2206T																					ENST00000426342.1:c.348A>T	p.Lys116Asn	p.K116N	ENST00000426342	NM_182830.4	116	aaA/aaT	0	not done		benign	
COL6A2		inserm.fr	GRCh37	21	47532401	47532401	+	synonymous_variant	Silent	SNP	G	A	A			CHC1182T																					ENST00000300527.4:c.624G>A	p.Pro208=	p.P208=	ENST00000300527	NM_001849.3	208	ccG/ccA	0	not done		synonymous	
COL6A2		inserm.fr	GRCh37	21	47537336	47537336	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC051T																					ENST00000300527.4:c.1022C>A	p.Pro341His	p.P341H	ENST00000300527	NM_001849.3	341	cCt/cAt	0	validated		probablydamaging	
COL6A2		inserm.fr	GRCh37	21	47538547	47538547	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM423T																					ENST00000300527.4:c.1136G>A	p.Gly379Glu	p.G379E	ENST00000300527	NM_001849.3	379	gGa/gAa	0	validated		probablydamaging	
ATP10D		inserm.fr	GRCh37	4	47560028	47560028	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000273859.3:c.2172G>A	p.Glu724=	p.E724=	ENST00000273859	NM_020453.3	724	gaG/gaA	0	not done		synonymous	
FTCD		inserm.fr	GRCh37	21	47570325	47570325	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM567T																					ENST00000291670.5:c.751G>T	p.Glu251Ter	p.E251*	ENST00000291670	NM_006657.2	251	Gag/Tag	0	validated		damaging	
FTCD		inserm.fr	GRCh37	21	47572888	47572888	+	synonymous_variant	Silent	SNP	G	A	A			CHC1055T																					ENST00000291670.5:c.300C>T	p.Ser100=	p.S100=	ENST00000291670	NM_006657.2	100	agC/agT	0	validated		synonymous	
NGFR		inserm.fr	GRCh37	17	47583742	47583742	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000172229.3:c.290C>A	p.Ala97Glu	p.A97E	ENST00000172229	NM_002507.3	97	gCg/gAg	0	not done		probablydamaging	
NGFR		inserm.fr	GRCh37	17	47587823	47587823	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000172229.3:c.618C>A	p.Asp206Glu	p.D206E	ENST00000172229	NM_002507.3	206	gaC/gaA	0	not done		benign	
SPATC1L		inserm.fr	GRCh37	21	47588428	47588428	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1191T																					ENST00000291672.5:c.338C>T	p.Pro113Leu	p.P113L	ENST00000291672	NM_001142854.1	113	cCc/cTc	0	not done		benign	
EPCAM		inserm.fr	GRCh37	2	47600959	47600959	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC306T									Valid												ENST00000263735.4:c.197G>A	p.Cys66Tyr	p.C66Y	ENST00000263735	NM_002354.2	66	tGt/tAt	0	validated		probablydamaging	
EPCAM		inserm.fr	GRCh37	2	47604189	47604189	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000263735.4:c.528G>A	p.Leu176=	p.L176=	ENST00000263735	NM_002354.2	176	ctG/ctA	0	not done		synonymous	
CYP4A22		inserm.fr	GRCh37	1	47610047	47610047	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371891.3:c.809G>A	p.Arg270Lys	p.R270K	ENST00000371891	NM_001010969.2	270	aGg/aAg	0	not done		possiblydamaging	
ARFGEF2		inserm.fr	GRCh37	20	47626830	47626830	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371917.4:c.3646G>A	p.Ala1216Thr	p.A1216T	ENST00000371917	NM_006420.2	1216	Gcc/Acc	0	not done		benign	
SLC9A3		inserm.fr	GRCh37	5	476387	476387	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000264938.3:c.1997C>T	p.Ser666Leu	p.S666L	ENST00000264938	NM_004174.2	666	tCg/tTg	0	validated		possiblydamaging	
LSS		inserm.fr	GRCh37	21	47647529	47647529	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC429T									Valid												ENST00000397728.3:c.256G>T	p.Gly86Trp	p.G86W	ENST00000397728	NM_002340.5	86	Ggg/Tgg	0	validated		probablydamaging	
GPR111		inserm.fr	GRCh37	6	47649633	47649633	+	synonymous_variant	Silent	SNP	G	A	A			BCM543T																					ENST00000296862.1:c.1338G>A	p.Leu446=	p.L446=	ENST00000296862		446	ctG/ctA	0	validated		synonymous	
MCM3AP		inserm.fr	GRCh37	21	47666310	47666310	+	synonymous_variant	Silent	SNP	G	A	A			CHC2127T																					ENST00000397708.1:c.4558C>T	p.Leu1520=	p.L1520=	ENST00000397708		1520	Cta/Tta	0	not done		synonymous	
GPR115		inserm.fr	GRCh37	6	47685082	47685082	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000283303.2:c.2029G>A	p.Ala677Thr	p.A677T	ENST00000283303	NM_153838.3	677	Gct/Act	0	not done		benign	
TAL1		inserm.fr	GRCh37	1	47685621	47685621	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000294339.3:c.767C>T	p.Thr256Ile	p.T256I	ENST00000294339	NM_003189.2	256	aCt/aTt	0	not done		benign	
TAL1		inserm.fr	GRCh37	1	47685790	47685790	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC465T									Valid												ENST00000294339.3:c.598C>T	p.Gln200Ter	p.Q200*	ENST00000294339	NM_003189.2	200	Cag/Tag	0	validated		damaging	
MCM3AP		inserm.fr	GRCh37	21	47685955	47685955	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC510T																					ENST00000397708.1:c.2915C>T	p.Pro972Leu	p.P972L	ENST00000397708		972	cCc/cTc	0	validated		probablydamaging	
PHKB		inserm.fr	GRCh37	16	47699929	47699929	+	intron_variant	Intron	SNP	G	A	A			CHC2098T																					ENST00000323584.5:c.2427+1043G>A		*809*	ENST00000323584	NM_000293.2			0	not done			
MSH2		inserm.fr	GRCh37	2	47703662	47703662	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000233146.2:c.2162G>A	p.Gly721Glu	p.G721E	ENST00000233146	NM_000251.2	721	gGa/gAa	0	not done		probablydamaging	
STIL		inserm.fr	GRCh37	1	47746187	47746187	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1749T																					ENST00000371877.3:c.1943G>T	p.Cys648Phe	p.C648F	ENST00000371877		648	tGt/tTt	0	not done		probablydamaging	
FNBP4		inserm.fr	GRCh37	11	47746304	47746304	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2098T																					ENST00000263773.5:c.2035G>T	p.Gly679Cys	p.G679C	ENST00000263773	NM_015308.2	679	Ggt/Tgt	0	not done		possiblydamaging	
BEYLA		inserm.fr	GRCh37	8	47759652	47759652	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC1736T																					ENST00000521715.1:n.404G>A		*135*	ENST00000521715				0	not done			
OPN5		inserm.fr	GRCh37	6	47776016	47776016	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1738T																					ENST00000371211.2:c.883G>A	p.Ala295Thr	p.A295T	ENST00000371211	NM_181744.3	295	Gca/Aca	0	not done		probablydamaging	
PRR24		inserm.fr	GRCh37	19	47778318	47778318	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000552360.2:c.142G>A	p.Ala48Thr	p.A48T	ENST00000552360	NM_178511.5	48	Gcc/Acc	0	not done		probablydamaging	
KCNK12		inserm.fr	GRCh37	2	47797294	47797294	+	synonymous_variant	Silent	SNP	C	A	A			CHC1753T																					ENST00000327876.4:c.177G>T	p.Ala59=	p.A59=	ENST00000327876	NM_022055.1	59	gcG/gcT	0	not done		synonymous	
FAM117A		inserm.fr	GRCh37	17	47810002	47810002	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1624T																					ENST00000240364.2:c.277G>T	p.Asp93Tyr	p.D93Y	ENST00000240364	NM_030802.3	93	Gac/Tac	0	validated		probablydamaging	
PCNT		inserm.fr	GRCh37	21	47831506	47831506	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359568.5:c.5519G>A	p.Arg1840His	p.R1840H	ENST00000359568	NM_006031.5	1840	cGc/cAc	0	not done		benign	
C5AR2		inserm.fr	GRCh37	19	47844435	47844435	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000595464.1:c.379G>A	p.Ala127Thr	p.A127T	ENST00000595464	NM_001271749.1	127	Gct/Act	0	not done		benign	
PTCHD4		inserm.fr	GRCh37	6	47846642	47846642	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000339488.4:c.1938C>T	p.Ser646=	p.S646=	ENST00000339488	NM_001013732.3	646	tcC/tcT	0	not done		synonymous	
DHX34		inserm.fr	GRCh37	19	47858598	47858598	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM501T																					ENST00000328771.4:c.1008C>A	p.Phe336Leu	p.F336L	ENST00000328771	NM_014681.5	336	ttC/ttA	0	validated		probablydamaging	
ZNFX1		inserm.fr	GRCh37	20	47870203	47870203	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			BCM375T									Valid												ENST00000396105.1:c.3105G>T	p.Gln1035His	p.Q1035H	ENST00000396105	NM_021035.2	1035	caG/caT	0	validated		probablydamaging	
DHX30		inserm.fr	GRCh37	3	47883120	47883120	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1539T																					ENST00000445061.1:c.682G>A	p.Glu228Lys	p.E228K	ENST00000445061	NM_138615.2	228	Gag/Aag	0	not done		possiblydamaging	
DHX34		inserm.fr	GRCh37	19	47884127	47884127	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000328771.4:c.3037G>A	p.Gly1013Arg	p.G1013R	ENST00000328771	NM_014681.5	1013	Gga/Aga	0	not done		probablydamaging	
KAT7		inserm.fr	GRCh37	17	47895364	47895364	+	synonymous_variant	Silent	SNP	C	A	A			BCM531T																					ENST00000259021.4:c.1146C>A	p.Arg382=	p.R382=	ENST00000259021	NM_007067.4	382	cgC/cgA	0	validated		synonymous	
FOXD2		inserm.fr	GRCh37	1	47904000	47904000	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM769T																					ENST00000334793.5:c.193G>A	p.Ala65Thr	p.A65T	ENST00000334793	NM_004474.3	65	Gca/Aca	0	validated		benign	
DIP2A		inserm.fr	GRCh37	21	47924273	47924273	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			BCM545T																					ENST00000417564.2:c.656-1G>A		p.X219_splice	ENST00000417564				0	validated		damaging	
TAC4		inserm.fr	GRCh37	17	47924494	47924494	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000376609.1:n.395G>A		*132*	ENST00000376609				0	not done			
PTCHD4		inserm.fr	GRCh37	6	47976377	47976377	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000339488.4:c.900C>T	p.Phe300=	p.F300=	ENST00000339488	NM_001013732.3	300	ttC/ttT	0	not done		synonymous	
MINK1		inserm.fr	GRCh37	17	4798724	4798724	+	synonymous_variant	Silent	SNP	T	A	A			BCM325T																					ENST00000355280.6:c.3165T>A	p.Ile1055=	p.I1055=	ENST00000355280	NM_001024937.3	1055	atT/atA	0	validated		synonymous	
FOXK1		inserm.fr	GRCh37	7	4799028	4799028	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000328914.4:c.1498G>A	p.Ala500Thr	p.A500T	ENST00000328914	NM_001037165.1	500	Gcc/Acc	0	not done		possiblydamaging	
CSNK2A1		inserm.fr	GRCh37	20	479945	479945	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2127T																					ENST00000217244.3:c.320G>T	p.Arg107Leu	p.R107L	ENST00000217244	NM_177559.2	107	cGa/cTa	0	not done		probablydamaging	
SLC9A3		inserm.fr	GRCh37	5	480027	480027	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000264938.3:c.1571C>T	p.Ala524Val	p.A524V	ENST00000264938	NM_004174.2	524	gCc/gTc	0	not done		probablydamaging	
ZNF500		inserm.fr	GRCh37	16	4802920	4802920	+	synonymous_variant	Silent	SNP	G	A	A			CHC2103T																					ENST00000219478.6:c.900C>T	p.Gly300=	p.G300=	ENST00000219478		300	ggC/ggT	0	not done		synonymous	
ZNF541		inserm.fr	GRCh37	19	48035465	48035465	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000314121.4:c.3278C>T	p.Ala1093Val	p.A1093V	ENST00000314121		1093	gCt/gTt	0	not done		benign	
PTCHD4		inserm.fr	GRCh37	6	48036247	48036247	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000339488.4:c.145C>T	p.Pro49Ser	p.P49S	ENST00000339488	NM_001013732.3	49	Ccc/Tcc	0	not done		possiblydamaging	
FBXO11		inserm.fr	GRCh37	2	48037516	48037516	+	synonymous_variant	Silent	SNP	G	A	A			CHC1152T																					ENST00000403359.3:c.2277C>T	p.Leu759=	p.L759=	ENST00000403359	NM_001190274.1	759	ctC/ctT	0	not done		synonymous	
ZNF541		inserm.fr	GRCh37	19	48048820	48048820	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000314121.4:c.966C>T	p.Gly322=	p.G322=	ENST00000314121		322	ggC/ggT	0	validated		synonymous	
DLX4		inserm.fr	GRCh37	17	48050530	48050530	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000240306.3:c.377G>A	p.Ser126Asn	p.S126N	ENST00000240306	NM_138281.2	126	aGc/aAc	0	not done		possiblydamaging	
SEMA6D		inserm.fr	GRCh37	15	48058796	48058796	+	intron_variant	Intron	SNP	G	A	A			CHC1545T																					ENST00000316364.5:c.1647-17G>A		*549*	ENST00000316364	NM_153618.1			0	not done			
FBXO11		inserm.fr	GRCh37	2	48059938	48059938	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM617T																					ENST00000403359.3:c.1123G>T	p.Asp375Tyr	p.D375Y	ENST00000403359	NM_001190274.1	375	Gat/Tat	0	validated		possiblydamaging	
ENDOU		inserm.fr	GRCh37	12	48119188	48119188	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000422538.3:c.9C>T	p.Ala3=	p.A3=	ENST00000422538	NM_001172439.1	3	gcC/gcT	0	not done		synonymous	
PTPRJ		inserm.fr	GRCh37	11	48134388	48134388	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1055T																					ENST00000418331.2:c.205C>A	p.His69Asn	p.H69N	ENST00000418331	NM_002843.3	69	Cat/Aat	0	validated		benign	
ABCC12		inserm.fr	GRCh37	16	48139063	48139063	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1624T																					ENST00000311303.3:c.2660C>T	p.Thr887Met	p.T887M	ENST00000311303	NM_033226.2	887	aCg/aTg	0	validated		benign	
ABCC12		inserm.fr	GRCh37	16	48141315	48141315	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000311303.3:c.2393C>T	p.Thr798Ile	p.T798I	ENST00000311303	NM_033226.2	798	aCt/aTt	0	not done		benign	
RAPGEF3		inserm.fr	GRCh37	12	48141861	48141861	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2103T																					ENST00000449771.2:c.1318C>T	p.His440Tyr	p.H440Y	ENST00000449771		440	Cac/Tac	0	not done		probablydamaging	
ITGA3		inserm.fr	GRCh37	17	48145536	48145536	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000007722.7:c.531G>A	p.Trp177Ter	p.W177*	ENST00000007722		177	tgG/tgA	0	not done		damaging	
ITGA3		inserm.fr	GRCh37	17	48151517	48151517	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000007722.7:c.1255G>A	p.Gly419Arg	p.G419R	ENST00000007722		419	Gga/Aga	0	not done		probablydamaging	
ABCC12		inserm.fr	GRCh37	16	48162412	48162412	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000311303.3:c.1473C>T	p.Ser491=	p.S491=	ENST00000311303	NM_033226.2	491	agC/agT	0	not done		synonymous	
ABCC12		inserm.fr	GRCh37	16	48172207	48172207	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1052T									Valid												ENST00000311303.3:c.911A>T	p.Glu304Val	p.E304V	ENST00000311303	NM_033226.2	304	gAg/gTg	0	validated		probablydamaging	
ABCC12		inserm.fr	GRCh37	16	48174739	48174739	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000311303.3:c.516C>T	p.Thr172=	p.T172=	ENST00000311303	NM_033226.2	172	acC/acT	0	not done		synonymous	
GLTSCR1		inserm.fr	GRCh37	19	48184144	48184144	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000396720.3:c.1717G>A	p.Ala573Thr	p.A573T	ENST00000396720	NM_015711.3	573	Gcg/Acg	0	not done		benign	
PDK2		inserm.fr	GRCh37	17	48185530	48185530	+	synonymous_variant	Silent	SNP	C	A	A			CHC320T																					ENST00000503176.1:c.696C>A	p.Ser232=	p.S232=	ENST00000503176	NM_002611.4	232	tcC/tcA	0	validated		synonymous	
SAMD14		inserm.fr	GRCh37	17	48194925	48194925	+	synonymous_variant	Silent	SNP	C	A	A			CHC1182T																					ENST00000503131.1:c.345G>T	p.Pro115=	p.P115=	ENST00000503131	NM_174920.3	115	ccG/ccT	0	not done		synonymous	
GLTSCR1		inserm.fr	GRCh37	19	48205333	48205333	+	synonymous_variant	Silent	SNP	G	A	A			CHC313T																					ENST00000396720.3:c.4344G>A	p.Pro1448=	p.P1448=	ENST00000396720	NM_015711.3	1448	ccG/ccA	0	validated		synonymous	
SSX3		inserm.fr	GRCh37	X	48213500	48213500	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1751T																					ENST00000298396.2:c.214C>T	p.Arg72Cys	p.R72C	ENST00000298396	NM_021014.3	72	Cgt/Tgt	0	not done		benign	
ABCC11		inserm.fr	GRCh37	16	48226474	48226474	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1747T																					ENST00000394747.1:c.2663C>T	p.Thr888Met	p.T888M	ENST00000394747	NM_033151.3	888	aCg/aTg	0	not done		possiblydamaging	
TEC	7006	inserm.fr	GRCh37	4	48230531	48230531	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC917T																					ENST00000381501.3:c.101C>T	p.Thr34Ile	p.T34I	ENST00000381501	NM_003215.2	34	aCa/aTa	0	validated		possiblydamaging	
TRABD2B		inserm.fr	GRCh37	1	48244155	48244155	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000606738.2:c.1050C>T	p.Asp350=	p.D350=	ENST00000606738	NM_001194986.1	350	gaC/gaT	0	not done		synonymous	
OR52R1		inserm.fr	GRCh37	11	4825473	4825473	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000356069.2:c.138C>T	p.Ile46=	p.I46=	ENST00000356069	NM_001005177.3	46	atC/atT	0	not done		synonymous	
MAPK4		inserm.fr	GRCh37	18	48256182	48256182	+	synonymous_variant	Silent	SNP	C	A	A			BCB231T																					ENST00000400384.2:c.1722C>A	p.Gly574=	p.G574=	ENST00000400384	NM_002747.3	574	ggC/ggA	0	validated		synonymous	
COL1A1		inserm.fr	GRCh37	17	48264061	48264061	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM711T																					ENST00000225964.5:c.3754C>T	p.Arg1252Cys	p.R1252C	ENST00000225964	NM_000088.3	1252	Cgc/Tgc	0	validated		probablydamaging	
OR4X2		inserm.fr	GRCh37	11	48266822	48266822	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000302329.3:c.167G>A	p.Ser56Asn	p.S56N	ENST00000302329	NM_001004727.1	56	aGc/aAc	0	not done		possiblydamaging	
OR4X2		inserm.fr	GRCh37	11	48267370	48267370	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000302329.3:c.715G>A	p.Val239Ile	p.V239I	ENST00000302329	NM_001004727.1	239	Gtt/Att	0	validated		possiblydamaging	
COL1A1		inserm.fr	GRCh37	17	48275329	48275329	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2098T																					ENST00000225964.5:c.623C>T	p.Pro208Leu	p.P208L	ENST00000225964	NM_000088.3	208	cCt/cTt	0	not done		probablydamaging	
COL1A1		inserm.fr	GRCh37	17	48275855	48275855	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000225964.5:c.482C>T	p.Pro161Leu	p.P161L	ENST00000225964	NM_000088.3	161	cCc/cTc	0	not done		benign	
COL1A1		inserm.fr	GRCh37	17	48277238	48277238	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000225964.5:c.174C>T	p.Cys58=	p.C58=	ENST00000225964	NM_000088.3	58	tgC/tgT	0	not done		synonymous	
ABCA13		inserm.fr	GRCh37	7	48313706	48313706	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000435803.1:c.4443G>A	p.Glu1481=	p.E1481=	ENST00000435803	NM_152701.3	1481	gaG/gaA	0	not done		synonymous	
ABCA13		inserm.fr	GRCh37	7	48314573	48314573	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000435803.1:c.5310G>A	p.Lys1770=	p.K1770=	ENST00000435803	NM_152701.3	1770	aaG/aaA	0	not done		synonymous	
SLC38A5		inserm.fr	GRCh37	X	48319450	48319450	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2200T																					ENST00000376876.3:c.874G>T	p.Ala292Ser	p.A292S	ENST00000376876		292	Gcc/Tcc	0	validated		benign	
ABCA13		inserm.fr	GRCh37	7	48319465	48319465	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000435803.1:c.8674G>A	p.Gly2892Arg	p.G2892R	ENST00000435803	NM_152701.3	2892	Gga/Aga	0	not done		benign	
SLAIN2		inserm.fr	GRCh37	4	48343995	48343995	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1712T																					ENST00000264313.6:c.239G>A	p.Gly80Glu	p.G80E	ENST00000264313	NM_020846.1	80	gGg/gAg	0	not done		benign	
SLC9A3		inserm.fr	GRCh37	5	483449	483449	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000264938.3:c.1081C>T	p.Pro361Ser	p.P361S	ENST00000264938	NM_004174.2	361	Ccg/Tcg	0	not done		benign	
PORCN		inserm.fr	GRCh37	X	48373003	48373003	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000326194.6:c.936G>A	p.Trp312Ter	p.W312*	ENST00000326194	NM_203475.1	312	tgG/tgA	0	not done		damaging	
COL2A1		inserm.fr	GRCh37	12	48383010	48383010	+	splice_donor_variant	Splice_Site	SNP	C	A	A			BCB167T																					ENST00000380518.3:c.1122+1G>T		p.X374_splice	ENST00000380518	NM_033150.2			0	validated		damaging	
OR4C5		inserm.fr	GRCh37	11	48387562	48387562	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000319813.3:c.456C>T	p.Tyr152=	p.Y152=	ENST00000319813		152	taC/taT	0	not done		synonymous	
RBP3		inserm.fr	GRCh37	10	48388923	48388923	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB109T									Valid												ENST00000224600.4:c.1955C>T	p.Ala652Val	p.A652V	ENST00000224600	NM_002900.2	652	gCt/gTt	0	validated		probablydamaging	
RBP3		inserm.fr	GRCh37	10	48389123	48389123	+	synonymous_variant	Silent	SNP	G	A	A			CHC1757T																					ENST00000224600.4:c.1755C>T	p.Pro585=	p.P585=	ENST00000224600	NM_002900.2	585	ccC/ccT	0	not done		synonymous	
RBP3		inserm.fr	GRCh37	10	48389232	48389232	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000224600.4:c.1646C>T	p.Ala549Val	p.A549V	ENST00000224600	NM_002900.2	549	gCg/gTg	0	not done		possiblydamaging	
RBP3		inserm.fr	GRCh37	10	48389337	48389337	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2206T																					ENST00000224600.4:c.1541C>T	p.Thr514Ile	p.T514I	ENST00000224600	NM_002900.2	514	aCc/aTc	0	not done		probablydamaging	
RBP3		inserm.fr	GRCh37	10	48390142	48390142	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000224600.4:c.736C>T	p.Leu246Phe	p.L246F	ENST00000224600	NM_002900.2	246	Ctt/Ttt	0	not done		probablydamaging	
RBP3		inserm.fr	GRCh37	10	48390624	48390624	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000224600.4:c.254C>T	p.Pro85Leu	p.P85L	ENST00000224600	NM_002900.2	85	cCt/cTt	0	not done		probablydamaging	
PLIN3		inserm.fr	GRCh37	19	4839492	4839492	+	synonymous_variant	Silent	SNP	G	A	A			CHC799T																					ENST00000221957.4:c.1017C>T	p.Ala339=	p.A339=	ENST00000221957	NM_001164194.1	339	gcC/gcT	0	not done		synonymous	
FBXW12		inserm.fr	GRCh37	3	48419965	48419965	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000296438.5:c.564G>A	p.Gln188=	p.Q188=	ENST00000296438	NM_207102.2	188	caG/caA	0	not done		synonymous	
FBXW12		inserm.fr	GRCh37	3	48420965	48420965	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC469T									Valid												ENST00000296438.5:c.691C>A	p.Gln231Lys	p.Q231K	ENST00000296438	NM_207102.2	231	Caa/Aaa	0	validated		benign	
ABCA13		inserm.fr	GRCh37	7	48428720	48428720	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000435803.1:c.11557G>A	p.Gly3853Ser	p.G3853S	ENST00000435803	NM_152701.3	3853	Ggc/Agc	0	not done		possiblydamaging	
GDF10		inserm.fr	GRCh37	10	48428845	48428845	+	synonymous_variant	Silent	SNP	C	A	A			CHC433T																					ENST00000224605.2:c.1041G>T	p.Val347=	p.V347=	ENST00000224605	NM_004962.3	347	gtG/gtT	0	validated		synonymous	
OR51F2		inserm.fr	GRCh37	11	4843137	4843137	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000322110.5:c.522G>A	p.Met174Ile	p.M174I	ENST00000322110	NM_001004753.1	174	atG/atA	0	not done		benign	
MYEF2		inserm.fr	GRCh37	15	48441391	48441391	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM617T																					ENST00000324324.7:c.1556G>T	p.Gly519Val	p.G519V	ENST00000324324	NM_016132.3	519	gGc/gTc	0	validated		possiblydamaging	
EME1		inserm.fr	GRCh37	17	48453192	48453192	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000393271.2:c.623G>A	p.Arg208Lys	p.R208K	ENST00000393271	NM_001166131.1	208	aGa/aAa	0	not done		benign	
RADIL		inserm.fr	GRCh37	7	4845337	4845337	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC923T																					ENST00000399583.3:c.2150C>T	p.Thr717Ile	p.T717I	ENST00000399583	NM_018059.4	717	aCa/aTa	0	not done		benign	
SLC9A8		inserm.fr	GRCh37	20	48456089	48456089	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000417961.1:c.301G>A	p.Gly101Arg	p.G101R	ENST00000417961	NM_015266.2	101	Gga/Aga	0	not done		probablydamaging	
PLXNB1		inserm.fr	GRCh37	3	48456418	48456418	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC879T																					ENST00000358536.4:c.3999G>T	p.Gln1333His	p.Q1333H	ENST00000358536	NM_002673.4	1333	caG/caT	0	not done		benign	
SLC9A3		inserm.fr	GRCh37	5	484737	484737	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000264938.3:c.830G>T	p.Arg277Leu	p.R277L	ENST00000264938	NM_004174.2	277	cGc/cTc	0	not done		probablydamaging	
SLC10A4		inserm.fr	GRCh37	4	48486980	48486980	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000273861.4:c.622G>A	p.Ala208Thr	p.A208T	ENST00000273861	NM_152679.3	208	Gcc/Acc	0	not done		probablydamaging	
ASB8		inserm.fr	GRCh37	12	48543447	48543447	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM325T																					ENST00000317697.3:c.569G>T	p.Arg190Leu	p.R190L	ENST00000317697	NM_024095.3	190	cGc/cTc	0	validated		probablydamaging	
WAS		inserm.fr	GRCh37	X	48546837	48546837	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2202T																					ENST00000376701.4:c.926G>A	p.Arg309His	p.R309H	ENST00000376701	NM_000377.2	309	cGc/cAc	0	not done		probablydamaging	
ACSF2		inserm.fr	GRCh37	17	48549814	48549814	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1744T																					ENST00000300441.4:c.1349G>A	p.Gly450Glu	p.G450E	ENST00000300441	NM_025149.4	450	gGg/gAg	0	not done		possiblydamaging	
RADIL		inserm.fr	GRCh37	7	4856008	4856008	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000399583.3:c.1817C>T	p.Pro606Leu	p.P606L	ENST00000399583	NM_018059.4	606	cCc/cTc	0	not done		probablydamaging	
RSAD1		inserm.fr	GRCh37	17	48561091	48561091	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000258955.2:c.1077G>A	p.Gly359=	p.G359=	ENST00000258955	NM_018346.1	359	ggG/ggA	0	not done		synonymous	
PFKFB4		inserm.fr	GRCh37	3	48563045	48563045	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM325T																					ENST00000232375.3:c.1045G>T	p.Ala349Ser	p.A349S	ENST00000232375	NM_004567.2	349	Gcc/Tcc	0	validated		possiblydamaging	
FOXN2		inserm.fr	GRCh37	2	48573523	48573523	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1626T																					ENST00000340553.3:c.170C>A	p.Thr57Lys	p.T57K	ENST00000340553	NM_002158.3	57	aCa/aAa	0	not done		probablydamaging	
FRYL		inserm.fr	GRCh37	4	48582942	48582942	+	synonymous_variant	Silent	SNP	C	A	A			CHC798T																					ENST00000358350.4:c.2199G>T	p.Val733=	p.V733=	ENST00000358350	NM_015030.1	733	gtG/gtT	0	validated		synonymous	
PLA2G4C		inserm.fr	GRCh37	19	48598750	48598750	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB307T																					ENST00000599111.1:c.710A>T	p.His237Leu	p.H237L	ENST00000599111	NM_003706.2	237	cAc/cTc	0	validated		probablydamaging	
COL7A1		inserm.fr	GRCh37	3	48605933	48605933	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC793T									Valid												ENST00000328333.8:c.7793C>T	p.Pro2598Leu	p.P2598L	ENST00000328333	NM_000094.3	2598	cCg/cTg	0	validated		damaging	
MYCBPAP		inserm.fr	GRCh37	17	48606493	48606493	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1207T																					ENST00000323776.5:c.2797C>A	p.Gln933Lys	p.Q933K	ENST00000323776	NM_032133.4	933	Caa/Aaa	0	validated		benign	
COL7A1		inserm.fr	GRCh37	3	48621174	48621174	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM375T																					ENST00000328333.8:c.4318C>T	p.Pro1440Ser	p.P1440S	ENST00000328333	NM_000094.3	1440	Ccc/Tcc	0	validated		probablydamaging	
COL7A1		inserm.fr	GRCh37	3	48621762	48621762	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM545T									Valid												ENST00000328333.8:c.4166G>T	p.Gly1389Val	p.G1389V	ENST00000328333	NM_000094.3	1389	gGc/gTc	0	validated		probablydamaging	
ABCA13		inserm.fr	GRCh37	7	48626885	48626885	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000435803.1:c.14640+1G>A		p.X4880_splice	ENST00000435803	NM_152701.3			0	not done		damaging	
MSX1		inserm.fr	GRCh37	4	4864541	4864541	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM337T																					ENST00000382723.4:c.583C>A	p.Gln195Lys	p.Q195K	ENST00000382723	NM_002448.3	195	Cag/Aag	0	validated		possiblydamaging	
CACNA1G		inserm.fr	GRCh37	17	48647156	48647156	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359106.5:c.578G>A	p.Arg193Gln	p.R193Q	ENST00000359106	NM_018896.4	193	cGg/cAg	0	not done		probablydamaging	
CACNA1G		inserm.fr	GRCh37	17	48676848	48676848	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000359106.5:c.3318G>A	p.Arg1106=	p.R1106=	ENST00000359106	NM_018896.4	1106	agG/agA	0	validated		synonymous	
HDAC6		inserm.fr	GRCh37	X	48681726	48681726	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000334136.5:c.2917G>A	p.Gly973Arg	p.G973R	ENST00000334136		973	Gga/Aga	0	not done		possiblydamaging	
CACNA1G		inserm.fr	GRCh37	17	48684272	48684272	+	synonymous_variant	Silent	SNP	C	A	A			CHC1595T																					ENST00000359106.5:c.4434C>A	p.Ser1478=	p.S1478=	ENST00000359106	NM_018896.4	1478	tcC/tcA	0	validated		synonymous	
CACNA1G		inserm.fr	GRCh37	17	48685340	48685340	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000359106.5:c.4665G>A	p.Arg1555=	p.R1555=	ENST00000359106	NM_018896.4	1555	cgG/cgA	0	not done		synonymous	
CELSR3		inserm.fr	GRCh37	3	48685382	48685382	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1742T																					ENST00000164024.4:c.7021C>T	p.Arg2341Cys	p.R2341C	ENST00000164024	NM_001407.2	2341	Cgt/Tgt	0	not done		probablydamaging	
ERAS		inserm.fr	GRCh37	X	48687614	48687614	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000338270.1:c.81G>A	p.Arg27=	p.R27=	ENST00000338270	NM_181532.3	27	cgG/cgA	0	not done		synonymous	
CACNA1G		inserm.fr	GRCh37	17	48696247	48696247	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359106.5:c.5659G>A	p.Gly1887Ser	p.G1887S	ENST00000359106	NM_018896.4	1887	Ggc/Agc	0	not done		benign	
SLC5A9		inserm.fr	GRCh37	1	48698175	48698175	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC301T									Valid												ENST00000236495.5:c.1108+1G>A		p.X370_splice	ENST00000236495	NM_001135181.1			0	validated		damaging	
CELSR3		inserm.fr	GRCh37	3	48698335	48698335	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC898T																					ENST00000164024.4:c.1733G>T	p.Gly578Val	p.G578V	ENST00000164024	NM_001407.2	578	gGa/gTa	0	not done		possiblydamaging	
OR51S1		inserm.fr	GRCh37	11	4870246	4870246	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1750T																					ENST00000322101.2:c.193C>T	p.Arg65Cys	p.R65C	ENST00000322101	NM_001004758.1	65	Cgc/Tgc	0	not done		benign	
CACNA1G		inserm.fr	GRCh37	17	48703853	48703853	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359106.5:c.6875G>A	p.Gly2292Asp	p.G2292D	ENST00000359106	NM_018896.4	2292	gGc/gAc	0	not done		benign	
CACNA1G		inserm.fr	GRCh37	17	48703867	48703867	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359106.5:c.6889G>A	p.Gly2297Arg	p.G2297R	ENST00000359106	NM_018896.4	2297	Ggg/Agg	0	not done		benign	
NCKIPSD		inserm.fr	GRCh37	3	48717114	48717114	+	synonymous_variant	Silent	SNP	G	A	A			CHC1616T																					ENST00000294129.2:c.1383C>T	p.Leu461=	p.L461=	ENST00000294129	NM_016453.3	461	ctC/ctT	0	not done		synonymous	
ABCC3		inserm.fr	GRCh37	17	48733366	48733366	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000285238.8:c.219G>A	p.Lys73=	p.K73=	ENST00000285238	NM_003786.3	73	aaG/aaA	0	not done		synonymous	
RADIL		inserm.fr	GRCh37	7	4874727	4874727	+	synonymous_variant	Silent	SNP	G	A	A			CHC2052T																					ENST00000399583.3:c.927C>T	p.Gly309=	p.G309=	ENST00000399583	NM_018059.4	309	ggC/ggT	0	not done		synonymous	
RADIL		inserm.fr	GRCh37	7	4874846	4874846	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2115T																					ENST00000399583.3:c.808C>T	p.Arg270Trp	p.R270W	ENST00000399583	NM_018059.4	270	Cgg/Tgg	0	not done		probablydamaging	
RADIL		inserm.fr	GRCh37	7	4876138	4876138	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T									Valid												ENST00000399583.3:c.634C>T	p.Arg212Cys	p.R212C	ENST00000399583	NM_018059.4	212	Cgc/Tgc	0	validated		probablydamaging	
ABCC3		inserm.fr	GRCh37	17	48762168	48762168	+	synonymous_variant	Silent	SNP	G	A	A			BCB325T																					ENST00000285238.8:c.4212G>A	p.Leu1404=	p.L1404=	ENST00000285238	NM_003786.3	1404	ctG/ctA	0	validated		synonymous	
SLC35A2		inserm.fr	GRCh37	X	48767095	48767095	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM337T																					ENST00000247138.5:c.270G>T	p.Lys90Asn	p.K90N	ENST00000247138	NM_005660.1	90	aaG/aaT	0	validated		benign	
SLC35A2		inserm.fr	GRCh37	X	48767159	48767159	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000247138.5:c.206C>T	p.Thr69Ile	p.T69I	ENST00000247138	NM_005660.1	69	aCt/aTt	0	not done		possiblydamaging	
FBN1		inserm.fr	GRCh37	15	48787416	48787416	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM483T									Valid												ENST00000316623.5:c.2581C>T	p.Arg861Ter	p.R861*	ENST00000316623	NM_000138.4	861	Cga/Tga	0	validated		damaging	
PRKAR2A		inserm.fr	GRCh37	3	48789654	48789654	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC155T									Valid												ENST00000265563.8:c.1036C>T	p.Pro346Ser	p.P346S	ENST00000265563	NM_004157.2	346	Ccc/Tcc	0	validated		probablydamaging	
CEBPB		inserm.fr	GRCh37	20	48808283	48808283	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000303004.3:c.713C>A	p.Pro238His	p.P238H	ENST00000303004	NM_005194.3	238	cCc/cAc	0	not done		probablydamaging	
KCND1		inserm.fr	GRCh37	X	48826611	48826611	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000218176.3:c.68C>T	p.Ala23Val	p.A23V	ENST00000218176	NM_004979.4	23	gCc/gTc	0	not done		probablydamaging	
GTF2A1L		inserm.fr	GRCh37	2	48873645	48873645	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000394754.1:c.2554G>A	p.Ala852Thr	p.A852T	ENST00000394754	NM_172311.2	852	Gca/Aca	0	not done		benign	
OCIAD2		inserm.fr	GRCh37	4	48899840	48899840	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000508632.1:c.198C>T	p.Thr66=	p.T66=	ENST00000508632	NM_001014446.1	66	acC/acT	0	not done		synonymous	
OR8S1		inserm.fr	GRCh37	12	48919968	48919968	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1629T																					ENST00000310194.1:c.554T>A	p.Leu185His	p.L185H	ENST00000310194	NM_001005203.2	185	cTc/cAc	0	not done		possiblydamaging	
OR8S1		inserm.fr	GRCh37	12	48921815	48921815	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000310194.1:c.1009C>A	p.Pro337Thr	p.P337T	ENST00000310194	NM_001005203.2	337	Ccg/Acg	0	not done		benign	
OR8S1		inserm.fr	GRCh37	12	48921866	48921866	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000310194.1:c.1060G>A	p.Ala354Thr	p.A354T	ENST00000310194	NM_001005203.2	354	Gcg/Acg	0	not done		possiblydamaging	
GRIN2D		inserm.fr	GRCh37	19	48922549	48922549	+	synonymous_variant	Silent	SNP	C	A	A			CHC1744T																					ENST00000263269.3:c.1794C>A	p.Ala598=	p.A598=	ENST00000263269	NM_000836.2	598	gcC/gcA	0	not done		synonymous	
GRWD1		inserm.fr	GRCh37	19	48953684	48953684	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000253237.5:c.583G>A	p.Ala195Thr	p.A195T	ENST00000253237	NM_031485.3	195	Gcc/Acc	0	not done		benign	
GRWD1		inserm.fr	GRCh37	19	48953772	48953772	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2200T																					ENST00000253237.5:c.671C>A	p.Pro224His	p.P224H	ENST00000253237	NM_031485.3	224	cCc/cAc	0	not done		possiblydamaging	
ARIH2		inserm.fr	GRCh37	3	48965057	48965057	+	synonymous_variant	Silent	SNP	G	A	A			CHC2115T																					ENST00000356401.4:c.66G>A	p.Glu22=	p.E22=	ENST00000356401	NM_006321.2	22	gaG/gaA	0	not done		synonymous	
GPKOW		inserm.fr	GRCh37	X	48973983	48973983	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000156109.5:c.748C>T	p.Leu250Phe	p.L250F	ENST00000156109	NM_015698.4	250	Ctt/Ttt	0	not done		possiblydamaging	
GPKOW		inserm.fr	GRCh37	X	48974024	48974024	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1738T																					ENST00000156109.5:c.707A>T	p.Asp236Val	p.D236V	ENST00000156109	NM_015698.4	236	gAt/gTt	0	not done		possiblydamaging	
CYTH2		inserm.fr	GRCh37	19	48975581	48975581	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000452733.2:c.235-1G>A		p.X79_splice	ENST00000452733				0	not done		damaging	
LHCGR		inserm.fr	GRCh37	2	48982789	48982789	+	synonymous_variant	Silent	SNP	G	A	A			CHC1725T																					ENST00000294954.7:c.22C>T	p.Leu8=	p.L8=	ENST00000294954	NM_000233.3	8	Ctg/Ttg	0	not done		synonymous	
LMTK3		inserm.fr	GRCh37	19	48997067	48997067	+	synonymous_variant	Silent	SNP	G	A	A			CHC909T																					ENST00000270238.3:c.4063C>T	p.Leu1355=	p.L1355=	ENST00000270238	NM_001080434.1	1355	Ctg/Ttg	0	not done		synonymous	
PAPOLB		inserm.fr	GRCh37	7	4899882	4899882	+	synonymous_variant	Silent	SNP	G	A	A			BCM337T																					ENST00000404991.1:c.1557C>T	p.Asn519=	p.N519=	ENST00000404991	NM_020144.4	519	aaC/aaT	0	validated		synonymous	
LMTK3		inserm.fr	GRCh37	19	49004309	49004309	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000270238.3:c.1182C>T	p.Arg394=	p.R394=	ENST00000270238	NM_001080434.1	394	cgC/cgT	0	not done		synonymous	
LMTK3		inserm.fr	GRCh37	19	49004332	49004332	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000270238.3:c.1159G>T	p.Glu387Ter	p.E387*	ENST00000270238	NM_001080434.1	387	Gag/Tag	0	validated		damaging	
LMTK3		inserm.fr	GRCh37	19	49005805	49005805	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000270238.3:c.766C>T	p.Pro256Ser	p.P256S	ENST00000270238	NM_001080434.1	256	Ccc/Tcc	0	not done		possiblydamaging	
LMTK3		inserm.fr	GRCh37	19	49013313	49013313	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000270238.3:c.415C>T	p.Leu139=	p.L139=	ENST00000270238	NM_001080434.1	139	Ctg/Ttg	0	not done		synonymous	
ARIH2		inserm.fr	GRCh37	3	49020411	49020411	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000356401.4:c.1409G>A	p.Gly470Glu	p.G470E	ENST00000356401	NM_006321.2	470	gGg/gAg	0	not done		probablydamaging	
MAGIX		inserm.fr	GRCh37	X	49021678	49021678	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB109T									Valid												ENST00000412696.2:c.658G>A	p.Gly220Arg	p.G220R	ENST00000412696	NM_024859.2	220	Gga/Aga	0	validated		probablydamaging	
ARRDC5		inserm.fr	GRCh37	19	4902839	4902839	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000381781.2:c.41C>T	p.Pro14Leu	p.P14L	ENST00000381781	NM_001080523.1	14	cCc/cTc	0	not done		benign	
OR51T1		inserm.fr	GRCh37	11	4903795	4903795	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000380378.1:c.747G>A	p.Leu249=	p.L249=	ENST00000380378	NM_001004759.1	249	ctG/ctA	0	not done		synonymous	
OR51T1		inserm.fr	GRCh37	11	4903945	4903945	+	synonymous_variant	Silent	SNP	G	A	A			CHC609T																					ENST00000380378.1:c.897G>A	p.Arg299=	p.R299=	ENST00000380378	NM_001004759.1	299	agG/agA	0	validated		synonymous	
SYP		inserm.fr	GRCh37	X	49049895	49049895	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000263233.4:c.449C>T	p.Ala150Val	p.A150V	ENST00000263233	NM_003179.2	150	gCc/gTc	0	not done		probablydamaging	
WDR6		inserm.fr	GRCh37	3	49050111	49050111	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000395474.3:c.1234G>A	p.Glu412Lys	p.E412K	ENST00000395474	NM_018031.3	412	Gag/Aag	0	not done		benign	
WDR6		inserm.fr	GRCh37	3	49052449	49052449	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1763T																					ENST00000395474.3:c.3184C>A	p.Leu1062Met	p.L1062M	ENST00000395474	NM_018031.3	1062	Ctg/Atg	0	not done		probablydamaging	
SPAG9		inserm.fr	GRCh37	17	49053257	49053257	+	intron_variant	Intron	SNP	T	A	A			CHC909T																					ENST00000262013.7:c.3524-949A>T		*1175*	ENST00000262013	NM_001130528.2			0	not done			
TRIM49B		inserm.fr	GRCh37	11	49053336	49053336	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1749T																					ENST00000332682.7:c.185T>A	p.Ile62Lys	p.I62K	ENST00000332682	NM_001206626.1	62	aTa/aAa	0	not done			
DALRD3		inserm.fr	GRCh37	3	49055279	49055279	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1566T																					ENST00000341949.4:c.485C>T	p.Ala162Val	p.A162V	ENST00000341949	NM_001009996.2	162	gCt/gTt	0	not done		probablydamaging	
CACNA1F		inserm.fr	GRCh37	X	49071629	49071629	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC891T																					ENST00000376265.2:c.3547G>T	p.Val1183Leu	p.V1183L	ENST00000376265	NM_005183.2	1183	Gtg/Ttg	0	not done		possiblydamaging	
CACNA1F		inserm.fr	GRCh37	X	49079582	49079582	+	synonymous_variant	Silent	SNP	G	A	A			CHC1210T																					ENST00000376265.2:c.1924C>T	p.Leu642=	p.L642=	ENST00000376265	NM_005183.2	642	Ctg/Ttg	0	validated		synonymous	
CACNA1F		inserm.fr	GRCh37	X	49081438	49081438	+	synonymous_variant	Silent	SNP	G	A	A			CHC912T																					ENST00000376265.2:c.1695C>T	p.Asn565=	p.N565=	ENST00000376265	NM_005183.2	565	aaC/aaT	0	validated		synonymous	
CACNA1F		inserm.fr	GRCh37	X	49087728	49087728	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1192T																					ENST00000376265.2:c.317G>T	p.Cys106Phe	p.C106F	ENST00000376265	NM_005183.2	106	tGc/tTc	0	validated		probablydamaging	
CACNA1F		inserm.fr	GRCh37	X	49088351	49088351	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000376265.2:c.64C>T	p.Pro22Ser	p.P22S	ENST00000376265	NM_005183.2	22	Cct/Tct	0	not done		benign	
SPAG9		inserm.fr	GRCh37	17	49091666	49091666	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2048T																					ENST00000262013.7:c.1140A>T	p.Glu380Asp	p.E380D	ENST00000262013	NM_001130528.2	380	gaA/gaT	0	not done		benign	
CCDC22		inserm.fr	GRCh37	X	49092107	49092107	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2110Tbis																					ENST00000376227.3:c.11C>A	p.Ala4Glu	p.A4E	ENST00000376227	NM_014008.3	4	gCg/gAg	0	validated		probablydamaging	
CCDC22		inserm.fr	GRCh37	X	49103334	49103334	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000376227.3:c.857G>A	p.Gly286Asp	p.G286D	ENST00000376227	NM_014008.3	286	gGt/gAt	0	not done		benign	
FAM83E		inserm.fr	GRCh37	19	49104466	49104466	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000263266.3:c.1337G>T	p.Arg446Leu	p.R446L	ENST00000263266	NM_017708.3	446	cGa/cTa	0	not done		benign	
FOXP3		inserm.fr	GRCh37	X	49110434	49110434	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1594T																					ENST00000376207.4:c.911G>T	p.Ser304Ile	p.S304I	ENST00000376207	NM_014009.3	304	aGc/aTc	0	not done		possiblydamaging	
FOXP3		inserm.fr	GRCh37	X	49111933	49111933	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000376207.4:c.773C>T	p.Ala258Val	p.A258V	ENST00000376207	NM_014009.3	258	gCc/gTc	0	not done		probablydamaging	
AGBL4		inserm.fr	GRCh37	1	49119087	49119087	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371839.1:c.761C>T	p.Ala254Val	p.A254V	ENST00000371839	NM_032785.3	254	gCc/gTc	0	not done		probablydamaging	
SPHK2		inserm.fr	GRCh37	19	49132003	49132003	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000245222.4:c.938G>A	p.Gly313Asp	p.G313D	ENST00000245222	NM_001204158.2	313	gGc/gAc	0	not done		benign	
QARS1		inserm.fr	GRCh37	3	49133496	49133496	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1192T																					ENST00000306125.6:c.2294C>T	p.Thr765Ile	p.T765I	ENST00000306125	NM_001272073.1	765	aCt/aTt	0	not done		possiblydamaging	
USP19		inserm.fr	GRCh37	3	49149745	49149745	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000434032.2:c.2731C>T	p.Arg911Trp	p.R911W	ENST00000434032	NM_001199160.1	911	Cgg/Tgg	0	validated		probablydamaging	
SHC4		inserm.fr	GRCh37	15	49160027	49160027	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1556T																					ENST00000332408.4:c.934G>T	p.Val312Phe	p.V312F	ENST00000332408	NM_203349.3	312	Gtt/Ttt	0	not done		benign	
ADCY6		inserm.fr	GRCh37	12	49166195	49166195	+	synonymous_variant	Silent	SNP	C	A	A			CHC314T																					ENST00000307885.4:c.2670G>T	p.Gly890=	p.G890=	ENST00000307885	NM_015270.3	890	ggG/ggT	0	validated		synonymous	
LAMB2		inserm.fr	GRCh37	3	49166554	49166554	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000418109.1:c.1630C>T	p.Arg544Cys	p.R544C	ENST00000418109	NM_002292.3	544	Cgc/Tgc	0	validated		probablydamaging	
RADIL		inserm.fr	GRCh37	7	4917265	4917265	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000399583.3:c.506C>T	p.Ala169Val	p.A169V	ENST00000399583	NM_018059.4	169	gCa/gTa	0	not done		possiblydamaging	
NTN5		inserm.fr	GRCh37	19	49174238	49174238	+	synonymous_variant	Silent	SNP	G	A	A			CHC1185T																					ENST00000270235.4:c.6C>T	p.Pro2=	p.P2=	ENST00000270235	NM_145807.1	2	ccC/ccT	0	not done		synonymous	
PTPN1		inserm.fr	GRCh37	20	49184978	49184978	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371621.3:c.317G>A	p.Gly106Asp	p.G106D	ENST00000371621	NM_001278618.1	106	gGt/gAt	0	not done		probablydamaging	
KCNA6		inserm.fr	GRCh37	12	4919395	4919395	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1747T																					ENST00000433855.1:c.188C>A	p.Pro63Gln	p.P63Q	ENST00000433855	NM_002235.3	63	cCg/cAg	0	not done		probablydamaging	
FOLH1		inserm.fr	GRCh37	11	49194948	49194948	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000256999.2:c.1186C>T	p.His396Tyr	p.H396Y	ENST00000256999	NM_004476.1	396	Cat/Tat	0	validated		probablydamaging	
KCNA6		inserm.fr	GRCh37	12	4919930	4919930	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000433855.1:c.723G>A	p.Gly241=	p.G241=	ENST00000433855	NM_002235.3	241	ggG/ggA	0	not done		synonymous	
KCNA6		inserm.fr	GRCh37	12	4919946	4919946	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000433855.1:c.739G>A	p.Gly247Ser	p.G247S	ENST00000433855	NM_002235.3	247	Ggc/Agc	0	not done		benign	
FAM65C		inserm.fr	GRCh37	20	49211912	49211912	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC434T									Valid												ENST00000327979.2:c.2032G>T	p.Glu678Ter	p.E678*	ENST00000327979		678	Gaa/Taa	0	validated		damaging	
KLHDC8B		inserm.fr	GRCh37	3	49212567	49212567	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000332780.2:c.839G>A	p.Gly280Glu	p.G280E	ENST00000332780	NM_173546.2	280	gGg/gAg	0	not done		possiblydamaging	
MAMSTR		inserm.fr	GRCh37	19	49218581	49218581	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000318083.6:c.363C>T	p.Ser121=	p.S121=	ENST00000318083		121	tcC/tcT	0	not done		synonymous	
MAMSTR		inserm.fr	GRCh37	19	49218662	49218662	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000318083.6:c.282C>T	p.Pro94=	p.P94=	ENST00000318083		94	ccC/ccT	0	not done		synonymous	
BEND5		inserm.fr	GRCh37	1	49227015	49227015	+	synonymous_variant	Silent	SNP	G	A	A			BCM739T																					ENST00000371833.3:c.354C>T	p.His118=	p.H118=	ENST00000371833	NM_024603.2	118	caC/caT	0	validated		synonymous	
FAM65C		inserm.fr	GRCh37	20	49236562	49236562	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1534T																					ENST00000327979.2:c.218A>T	p.Gln73Leu	p.Q73L	ENST00000327979		73	cAg/cTg	0	validated		probablydamaging	
RND1		inserm.fr	GRCh37	12	49251890	49251890	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2215T																					ENST00000309739.5:c.588G>T	p.Gln196His	p.Q196H	ENST00000309739	NM_014470.3	196	caG/caT	0	not done		benign	
UBN1		inserm.fr	GRCh37	16	4925238	4925238	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB157T																					ENST00000396658.4:c.2827G>A	p.Gly943Arg	p.G943R	ENST00000396658	NM_016936.3	943	Gga/Aga	0	validated		possiblydamaging	
UHRF1		inserm.fr	GRCh37	19	4929293	4929293	+	non_coding_transcript_exon_variant	RNA	SNP	C	A	A			CHC303T																					ENST00000592666.1:n.789C>A		*263*	ENST00000592666				0	validated		synonymous	
OR51A7		inserm.fr	GRCh37	11	4929407	4929407	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1600T																					ENST00000359350.4:c.808C>A	p.Leu270Ile	p.L270I	ENST00000359350	NM_001004749.1	270	Ctt/Att	0	not done		benign	
RP11-3B7.1		inserm.fr	GRCh37	3	49298212	49298212	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB109T																					ENST00000440528.3:c.167T>A	p.Val56Glu	p.V56E	ENST00000440528		56	gTa/gAa	0	validated			
CCDC65		inserm.fr	GRCh37	12	49298225	49298225	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1602T																					ENST00000320516.4:c.106G>A	p.Glu36Lys	p.E36K	ENST00000320516	NM_033124.4	36	Gag/Aag	0	not done		probablydamaging	
CCDC65		inserm.fr	GRCh37	12	49298231	49298231	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1602T																					ENST00000320516.4:c.112C>A	p.Leu38Ile	p.L38I	ENST00000320516	NM_033124.4	38	Ctc/Atc	0	not done		possiblydamaging	
USP4		inserm.fr	GRCh37	3	49323674	49323674	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC314T									Valid												ENST00000265560.4:c.2057G>T	p.Gly686Val	p.G686V	ENST00000265560	NM_003363.3	686	gGa/gTa	0	validated		possiblydamaging	
PPL		inserm.fr	GRCh37	16	4934853	4934853	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1028T																					ENST00000345988.2:c.3803A>T	p.Glu1268Val	p.E1268V	ENST00000345988	NM_002705.4	1268	gAg/gTg	0	not done		probablydamaging	
WNT10B		inserm.fr	GRCh37	12	49361781	49361781	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000301061.4:c.659C>T	p.Pro220Leu	p.P220L	ENST00000301061	NM_003394.3	220	cCc/cTc	0	not done		benign	
OR51G2		inserm.fr	GRCh37	11	4936379	4936379	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000322013.3:c.515C>T	p.Pro172Leu	p.P172L	ENST00000322013	NM_001005238.1	172	cCc/cTc	0	not done		probablydamaging	
WNT10B		inserm.fr	GRCh37	12	49364013	49364013	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000301061.4:c.196C>T	p.Pro66Ser	p.P66S	ENST00000301061	NM_003394.3	66	Ccc/Tcc	0	not done		probablydamaging	
RHOA		inserm.fr	GRCh37	3	49405948	49405948	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM337T																					ENST00000418115.1:c.190G>T	p.Glu64Ter	p.E64*	ENST00000418115	NM_001664.2	64	Gaa/Taa	0	validated		damaging	
MLL2		inserm.fr	GRCh37	12	49422949	49422949	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1010T																					ENST00000301067.7:c.14146G>T	p.Gly4716Trp	p.G4716W	ENST00000301067	NM_003482.3	4716	Ggg/Tgg	0	not done		probablydamaging	
MLL2		inserm.fr	GRCh37	12	49423183	49423183	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC1744T									Valid												ENST00000301067.7:c.14075+1G>T		p.X4692_splice	ENST00000301067	NM_003482.3			0	validated		damaging	
NUCB1		inserm.fr	GRCh37	19	49425084	49425084	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC2103T																					ENST00000405315.4:c.1174G>A	p.Ala392Thr	p.A392T	ENST00000405315	NM_006184.5	392	Gct/Act	0	not done		probablydamaging	
MLL2		inserm.fr	GRCh37	12	49427743	49427743	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC059T									Valid												ENST00000301067.7:c.10745G>T	p.Arg3582Leu	p.R3582L	ENST00000301067	NM_003482.3	3582	cGg/cTg	0	validated		probablydamaging	
MLL2		inserm.fr	GRCh37	12	49428365	49428365	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1183T																					ENST00000301067.7:c.10440G>T	p.Gln3480His	p.Q3480H	ENST00000301067	NM_003482.3	3480	caG/caT	0	not done		probablydamaging	
MLL2		inserm.fr	GRCh37	12	49428366	49428366	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	A	A			CHC1183T																					ENST00000301067.7:c.10439A>T	p.Gln3480Leu	p.Q3480L	ENST00000301067	NM_003482.3	3480	cAg/cTg	0	not done		probablydamaging	
MLL2		inserm.fr	GRCh37	12	49437739	49437739	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB151T																					ENST00000301067.7:c.5231G>T	p.Ser1744Ile	p.S1744I	ENST00000301067	NM_003482.3	1744	aGc/aTc	0	validated		probablydamaging	
NICN1		inserm.fr	GRCh37	3	49462292	49462292	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1626T																					ENST00000273598.3:c.616G>T	p.Asp206Tyr	p.D206Y	ENST00000273598	NM_032316.3	206	Gac/Tac	0	not done		probablydamaging	
RHEBL1		inserm.fr	GRCh37	12	49463527	49463527	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000301068.6:c.42C>T	p.Tyr14=	p.Y14=	ENST00000301068	NM_144593.1	14	taC/taT	0	not done		synonymous	
GYS1		inserm.fr	GRCh37	19	49477894	49477894	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC902T																					ENST00000323798.3:c.1405A>T	p.Ser469Cys	p.S469C	ENST00000323798	NM_002103.4	469	Agt/Tgt	0	not done		probablydamaging	
GYS1		inserm.fr	GRCh37	19	49477989	49477989	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1602T																					ENST00000323798.3:c.1310G>T	p.Arg437Leu	p.R437L	ENST00000323798	NM_002103.4	437	cGg/cTg	0	not done		probablydamaging	
DHH		inserm.fr	GRCh37	12	49483905	49483905	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000266991.2:c.928C>T	p.Pro310Ser	p.P310S	ENST00000266991	NM_021044.2	310	Cca/Tca	0	validated		probablydamaging	
DHH		inserm.fr	GRCh37	12	49483978	49483978	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000266991.2:c.855C>T	p.Asp285=	p.D285=	ENST00000266991	NM_021044.2	285	gaC/gaT	0	validated		synonymous	
GYS1		inserm.fr	GRCh37	19	49488754	49488754	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1611T																					ENST00000323798.3:c.787G>T	p.Ala263Ser	p.A263S	ENST00000323798	NM_002103.4	263	Gcc/Tcc	0	not done		probablydamaging	
GYS1		inserm.fr	GRCh37	19	49488813	49488813	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC896T																					ENST00000323798.3:c.728G>T	p.Cys243Phe	p.C243F	ENST00000323798	NM_002103.4	243	tGc/tTc	0	not done		probablydamaging	
ADNP		inserm.fr	GRCh37	20	49509850	49509850	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2321T																					ENST00000396029.3:c.1401A>T	p.Lys467Asn	p.K467N	ENST00000396029	NM_015339.2	467	aaA/aaT	0	validated		benign	
RUVBL2		inserm.fr	GRCh37	19	49510592	49510592	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000595090.1:c.429G>A	p.Val143=	p.V143=	ENST00000595090	NM_006666.1	143	gtG/gtA	0	not done		synonymous	
RUVBL2		inserm.fr	GRCh37	19	49513256	49513256	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM683T																					ENST00000595090.1:c.596C>A	p.Thr199Lys	p.T199K	ENST00000595090	NM_006666.1	199	aCg/aAg	0	validated		possiblydamaging	
TUBA1A		inserm.fr	GRCh37	12	49579347	49579347	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000301071.7:c.802C>T	p.Pro268Ser	p.P268S	ENST00000301071	NM_006009.3	268	Cct/Tct	0	not done		probablydamaging	
RHAG		inserm.fr	GRCh37	6	49587032	49587032	+	synonymous_variant	Silent	SNP	G	A	A			CHC302T																					ENST00000371175.4:c.201C>T	p.Phe67=	p.F67=	ENST00000371175	NM_000324.2	67	ttC/ttT	0	validated		synonymous	
SNRNP70		inserm.fr	GRCh37	19	49589762	49589762	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1741T																					ENST00000598441.1:c.91G>A	p.Glu31Lys	p.E31K	ENST00000598441		31	Gaa/Aaa	0	not done		probablydamaging	
MAPK8		inserm.fr	GRCh37	10	49609777	49609777	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC614T									Valid												ENST00000374189.1:c.74G>A	p.Arg25Gln	p.R25Q	ENST00000374189		25	cGa/cAa	0	validated		probablydamaging	
KCNG1		inserm.fr	GRCh37	20	49626312	49626312	+	synonymous_variant	Silent	SNP	C	A	A			CHC2103T																					ENST00000371571.4:c.564G>T	p.Ala188=	p.A188=	ENST00000371571	NM_002237.3	188	gcG/gcT	0	not done		synonymous	
KCNG1		inserm.fr	GRCh37	20	49626445	49626445	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1052T									Valid												ENST00000371571.4:c.431C>T	p.Ala144Val	p.A144V	ENST00000371571	NM_002237.3	144	gCg/gTg	0	validated		probablydamaging	
USP27X		inserm.fr	GRCh37	X	49645823	49645823	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM439T																					ENST00000508866.2:c.913G>A	p.Val305Ile	p.V305I	ENST00000508866	NM_001145073.1	305	Gtt/Att	0	validated		probablydamaging	
ARHGAP22		inserm.fr	GRCh37	10	49654547	49654547	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC917T																					ENST00000417912.2:c.2032G>T	p.Ala678Ser	p.A678S	ENST00000417912		678	Gcg/Tcg	0	validated		probablydamaging	
ARHGAP22		inserm.fr	GRCh37	10	49658771	49658771	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000417912.2:c.1449C>T	p.Ser483=	p.S483=	ENST00000417912		483	tcC/tcT	0	not done		synonymous	
ZNF423		inserm.fr	GRCh37	16	49660095	49660095	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1601T																					ENST00000561648.1:c.3563C>T	p.Ala1188Val	p.A1188V	ENST00000561648	NM_015069.3	1188	gCc/gTc	0	not done		probablydamaging	
ARHGAP22		inserm.fr	GRCh37	10	49661440	49661440	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM735T																					ENST00000417912.2:c.943A>T	p.Asn315Tyr	p.N315Y	ENST00000417912		315	Aat/Tat	0	validated		possiblydamaging	
TUBA1C		inserm.fr	GRCh37	12	49663651	49663651	+	synonymous_variant	Silent	SNP	T	A	A			CHC1040T																					ENST00000301072.6:c.267T>A	p.Pro89=	p.P89=	ENST00000301072	NM_032704.3	89	ccT/ccA	0	not done		synonymous	
ARHGAP22		inserm.fr	GRCh37	10	49667836	49667836	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1028T																					ENST00000417912.2:c.598C>T	p.Arg200Trp	p.R200W	ENST00000417912		200	Cgg/Tgg	0	not done		probablydamaging	
CRISP2		inserm.fr	GRCh37	6	49668481	49668481	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000339139.4:c.83C>T	p.Ala28Val	p.A28V	ENST00000339139	NM_001261822.1	28	gCt/gTt	0	not done		benign	
OR51A4		inserm.fr	GRCh37	11	4968267	4968267	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000380373.2:c.64C>T	p.Leu22=	p.L22=	ENST00000380373	NM_001005329.1	22	Cta/Tta	0	not done		synonymous	
TRPM4		inserm.fr	GRCh37	19	49693485	49693485	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000252826.5:c.2040G>A	p.Trp680Ter	p.W680*	ENST00000252826	NM_017636.3	680	tgG/tgA	0	not done		damaging	
BSN		inserm.fr	GRCh37	3	49693856	49693856	+	synonymous_variant	Silent	SNP	G	A	A			CHC1708T																					ENST00000296452.4:c.6867G>A	p.Lys2289=	p.K2289=	ENST00000296452	NM_003458.3	2289	aaG/aaA	0	not done		synonymous	
ARHGAP22		inserm.fr	GRCh37	10	49701533	49701533	+	intron_variant	Intron	SNP	T	A	A			CHC703T																					ENST00000417912.2:c.323-13726A>T		*108*	ENST00000417912				0	validated			
TROAP		inserm.fr	GRCh37	12	49723943	49723943	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC898T																					ENST00000257909.3:c.1315C>A	p.Gln439Lys	p.Q439K	ENST00000257909	NM_005480.3	439	Caa/Aaa	0	not done		benign	
EMB		inserm.fr	GRCh37	5	49723977	49723977	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC1736T																					ENST00000303221.5:c.196+1G>T		p.X66_splice	ENST00000303221	NM_198449.2			0	not done		possiblydamaging	
TROAP		inserm.fr	GRCh37	12	49724211	49724211	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000257909.3:c.1583G>A	p.Arg528Lys	p.R528K	ENST00000257909	NM_005480.3	528	aGg/aAg	0	not done		benign	
TROAP		inserm.fr	GRCh37	12	49724226	49724226	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1743T																					ENST00000257909.3:c.1598T>A	p.Ile533Lys	p.I533K	ENST00000257909	NM_005480.3	533	aTa/aAa	0	not done		benign	
C1QL4		inserm.fr	GRCh37	12	49730142	49730142	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2113T																					ENST00000334221.3:c.119C>T	p.Pro40Leu	p.P40L	ENST00000334221	NM_001008223.1	40	cCt/cTt	0	not done		probablydamaging	
FNDC3A		inserm.fr	GRCh37	13	49752791	49752791	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000492622.2:c.1617+1G>A		p.X539_splice	ENST00000492622	NM_001079673.1			0	not done		damaging	
PGK2		inserm.fr	GRCh37	6	49754014	49754014	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000304801.3:c.887C>T	p.Ala296Val	p.A296V	ENST00000304801	NM_138733.4	296	gCt/gTt	0	not done		probablydamaging	
PGK2		inserm.fr	GRCh37	6	49754636	49754636	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000304801.3:c.265C>T	p.Leu89=	p.L89=	ENST00000304801	NM_138733.4	89	Ctg/Ttg	0	not done		synonymous	
IP6K1		inserm.fr	GRCh37	3	49765601	49765601	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000321599.4:c.727C>T	p.Arg243Trp	p.R243W	ENST00000321599	NM_153273.3	243	Cgg/Tgg	0	validated		probablydamaging	
OR51A2		inserm.fr	GRCh37	11	4976886	4976886	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000380371.1:c.58C>T	p.Pro20Ser	p.P20S	ENST00000380371	NM_001004748.1	20	Cca/Tca	0	not done		probablydamaging	
CRISP1		inserm.fr	GRCh37	6	49803147	49803147	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2206T																					ENST00000335847.4:c.632G>T	p.Cys211Phe	p.C211F	ENST00000335847	NM_001131.2	211	tGc/tTc	0	not done		probablydamaging	
SLC6A16		inserm.fr	GRCh37	19	49812346	49812346	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1743T																					ENST00000335875.4:c.1016G>T	p.Trp339Leu	p.W339L	ENST00000335875	NM_014037.2	339	tGg/tTg	0	not done		probablydamaging	
CDHR4		inserm.fr	GRCh37	3	49830023	49830023	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000412678.2:c.2016C>T	p.Pro672=	p.P672=	ENST00000412678	NM_001007540.2	672	ccC/ccT	0	not done		synonymous	
SNAI2		inserm.fr	GRCh37	8	49832977	49832977	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC437T																					ENST00000396822.1:c.103G>T	p.Glu35Ter	p.E35*	ENST00000396822		35	Gag/Tag	0	not done		damaging	
UBA7		inserm.fr	GRCh37	3	49845891	49845891	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1137T																					ENST00000333486.3:c.2358G>T	p.Gln786His	p.Q786H	ENST00000333486	NM_003335.2	786	caG/caT	0	not done		benign	
CLCN5		inserm.fr	GRCh37	X	49850989	49850989	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000376088.3:c.1019G>A	p.Ser340Asn	p.S340N	ENST00000376088	NM_001127899.2	340	aGc/aAc	0	not done		possiblydamaging	
LOC100507003		inserm.fr	GRCh37	19	49930393	49930393	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000576655.1:c.706G>A	p.Asp236Asn	p.D236N	ENST00000576655	NM_001195256.1	236	Gac/Aac	0	not done			
LOC100507003		inserm.fr	GRCh37	19	49931241	49931241	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000576655.1:c.1222G>A	p.Gly408Arg	p.G408R	ENST00000576655	NM_001195256.1	408	Ggg/Agg	0	not done			
MST1R		inserm.fr	GRCh37	3	49933307	49933307	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000296474.3:c.2803G>T	p.Val935Leu	p.V935L	ENST00000296474	NM_002447.2	935	Gta/Tta	0	not done		probablydamaging	
SLC17A7		inserm.fr	GRCh37	19	49933865	49933865	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000221485.3:c.1594G>T	p.Gly532Trp	p.G532W	ENST00000221485	NM_020309.3	532	Ggg/Tgg	0	not done		benign	
AKAP4		inserm.fr	GRCh37	X	49957148	49957148	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000358526.2:c.2216C>T	p.Thr739Ile	p.T739I	ENST00000358526	NM_003886.2	739	aCc/aTc	0	not done		benign	
ALDH16A1		inserm.fr	GRCh37	19	49962327	49962327	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000293350.4:c.304G>A	p.Ala102Thr	p.A102T	ENST00000293350	NM_153329.3	102	Gcc/Acc	0	not done		probablydamaging	
ALDH16A1		inserm.fr	GRCh37	19	49969499	49969499	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000293350.4:c.1897G>A	p.Ala633Thr	p.A633T	ENST00000293350	NM_153329.3	633	Gcg/Acg	0	not done		benign	
WDFY4		inserm.fr	GRCh37	10	49997989	49997989	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000325239.5:c.4025G>A	p.Gly1342Glu	p.G1342E	ENST00000325239	NM_020945.1	1342	gGg/gAg	0	not done		probablydamaging	
WDFY4		inserm.fr	GRCh37	10	49998843	49998843	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000325239.5:c.4138G>A	p.Gly1380Ser	p.G1380S	ENST00000325239	NM_020945.1	1380	Ggc/Agc	0	not done		possiblydamaging	
OR4C12		inserm.fr	GRCh37	11	50003423	50003423	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000335238.4:c.615C>T	p.Cys205=	p.C205=	ENST00000335238	NM_001005270.2	205	tgC/tgT	0	not done		synonymous	
OR4C12		inserm.fr	GRCh37	11	50003520	50003520	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM337T																					ENST00000335238.4:c.518G>T	p.Gly173Val	p.G173V	ENST00000335238	NM_001005270.2	173	gGc/gTc	0	validated		benign	
MIR3667HG		inserm.fr	GRCh37	22	50018187	50018187	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC909T																					ENST00000400023.1:c.277C>T	p.Arg93Cys	p.R93C	ENST00000400023		93	Cgc/Tgc	0	not done			
WDFY4		inserm.fr	GRCh37	10	50022127	50022127	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC1763T																					ENST00000325239.5:c.5340G>A	p.Gln1780=	p.Q1780=	ENST00000325239	NM_020945.1	1780	caG/caA	0	not done		damaging	
WDFY4		inserm.fr	GRCh37	10	50025449	50025449	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2034T																					ENST00000325239.5:c.5500C>A	p.Gln1834Lys	p.Q1834K	ENST00000325239	NM_020945.1	1834	Caa/Aaa	0	not done		benign	
CCNB3		inserm.fr	GRCh37	X	50052528	50052528	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000376042.1:c.1359G>A	p.Glu453=	p.E453=	ENST00000376042		453	gaG/gaA	0	not done		synonymous	
WDFY4		inserm.fr	GRCh37	10	50085233	50085233	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1763T																					ENST00000325239.5:c.7156G>A	p.Asp2386Asn	p.D2386N	ENST00000325239	NM_020945.1	2386	Gat/Aat	0	not done		possiblydamaging	
RBM6		inserm.fr	GRCh37	3	50091774	50091774	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000266022.4:c.1639G>A	p.Ala547Thr	p.A547T	ENST00000266022	NM_005777.2	547	Gca/Aca	0	not done		benign	
MMP26		inserm.fr	GRCh37	11	5009491	5009491	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM339T																					ENST00000380390.1:c.50C>A	p.Ala17Asp	p.A17D	ENST00000380390		17	gCc/gAc	0	validated		probablydamaging	
RBM6		inserm.fr	GRCh37	3	50112689	50112689	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC793T																					ENST00000266022.4:c.3172G>A	p.Val1058Ile	p.V1058I	ENST00000266022	NM_005777.2	1058	Gtc/Atc	0	validated		benign	
PARP8		inserm.fr	GRCh37	5	50120742	50120742	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000281631.5:c.1861G>A	p.Ala621Thr	p.A621T	ENST00000281631	NM_024615.3	621	Gca/Aca	0	not done		probablydamaging	
LRRC18		inserm.fr	GRCh37	10	50122088	50122088	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1600T																					ENST00000374160.3:c.113G>T	p.Gly38Val	p.G38V	ENST00000374160	NM_001006939.3	38	gGa/gTa	0	not done		probablydamaging	
PRR12		inserm.fr	GRCh37	19	50124855	50124855	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000418929.2:c.5697G>A	p.Arg1899=	p.R1899=	ENST00000418929	NM_020719.1	1899	cgG/cgA	0	not done		synonymous	
ZNF232		inserm.fr	GRCh37	17	5013123	5013123	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC301T									Valid												ENST00000250076.3:c.64G>T	p.Glu22Ter	p.E22*	ENST00000250076	NM_014519.2	22	Gag/Tag	0	validated		damaging	
PIGG		inserm.fr	GRCh37	4	501321	501321	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000453061.2:c.698G>A	p.Gly233Glu	p.G233E	ENST00000453061	NM_001127178.1	233	gGg/gAg	0	not done		possiblydamaging	
ZPBP		inserm.fr	GRCh37	7	50132679	50132679	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000046087.2:c.112C>T	p.Arg38Trp	p.R38W	ENST00000046087	NM_007009.2	38	Cgg/Tgg	0	not done		benign	
HEATR3		inserm.fr	GRCh37	16	50138970	50138970	+	stop_lost	Nonstop_Mutation	SNP	T	A	A			CHC1741T																					ENST00000299192.7:c.2041T>A	p.Ter681LysextTer19	p.*681Kext*19	ENST00000299192	NM_182922.2	681	Taa/Aaa	0	not done			
RBM5		inserm.fr	GRCh37	3	50152947	50152947	+	synonymous_variant	Silent	SNP	T	A	A			BCM567T																					ENST00000347869.3:c.1926T>A	p.Ala642=	p.A642=	ENST00000347869	NM_005778.3	642	gcT/gcA	0	validated		synonymous	
RBM5		inserm.fr	GRCh37	3	50154509	50154509	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1715T																					ENST00000347869.3:c.2097G>A	p.Met699Ile	p.M699I	ENST00000347869	NM_005778.3	699	atG/atA	0	not done		probablydamaging	
SCAF1		inserm.fr	GRCh37	19	50156155	50156155	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000360565.3:c.2509G>A	p.Val837Met	p.V837M	ENST00000360565	NM_021228.2	837	Gtg/Atg	0	not done		probablydamaging	
SCAF1		inserm.fr	GRCh37	19	50156818	50156818	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1744T																					ENST00000360565.3:c.3172G>A	p.Ala1058Thr	p.A1058T	ENST00000360565	NM_021228.2	1058	Gcc/Acc	0	validated		possiblydamaging	
WDFY4		inserm.fr	GRCh37	10	50165327	50165327	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC801T																					ENST00000325239.5:c.8131G>A	p.Gly2711Ser	p.G2711S	ENST00000325239	NM_020945.1	2711	Ggc/Agc	0	not done		probablydamaging	
DGKK		inserm.fr	GRCh37	X	50167254	50167254	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000376025.2:n.808C>T		*270*	ENST00000376025				0	not done		probablydamaging	
CYTL1		inserm.fr	GRCh37	4	5016881	5016881	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000307746.4:c.408C>T	p.Arg136=	p.R136=	ENST00000307746	NM_018659.2	136	cgC/cgT	0	not done		synonymous	
BCL2L12		inserm.fr	GRCh37	19	50169202	50169202	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000246785.3:c.122G>A	p.Trp41Ter	p.W41*	ENST00000246785	NM_138639.1	41	tGg/tAg	0	not done		damaging	
WDFY4		inserm.fr	GRCh37	10	50172091	50172091	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T									Valid												ENST00000325239.5:c.8428C>A	p.Pro2810Thr	p.P2810T	ENST00000325239	NM_020945.1	2810	Ccc/Acc	0	validated		probablydamaging	
KLHDC1		inserm.fr	GRCh37	14	50176515	50176515	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T									Valid												ENST00000359332.2:c.256G>A	p.Gly86Arg	p.G86R	ENST00000359332	NM_172193.2	86	Gga/Aga	0	validated		probablydamaging	
WDFY4		inserm.fr	GRCh37	10	50177149	50177149	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000325239.5:c.8625G>A	p.Gly2875=	p.G2875=	ENST00000325239	NM_020945.1	2875	ggG/ggA	0	not done		synonymous	
WDFY4		inserm.fr	GRCh37	10	50178265	50178265	+	synonymous_variant	Silent	SNP	C	A	A			CHC1594T																					ENST00000325239.5:c.8859C>A	p.Thr2953=	p.T2953=	ENST00000325239	NM_020945.1	2953	acC/acA	0	not done		synonymous	
C7orf72		inserm.fr	GRCh37	7	50180919	50180919	+	synonymous_variant	Silent	SNP	C	A	A			CHC437T																					ENST00000297001.6:c.1020C>A	p.Pro340=	p.P340=	ENST00000297001	NM_001161834.2	340	ccC/ccA	0	not done		synonymous	
NCKAP5L		inserm.fr	GRCh37	12	50187625	50187625	+	synonymous_variant	Silent	SNP	G	A	A			CHC798T																					ENST00000335999.6:c.3150C>T	p.Tyr1050=	p.Y1050=	ENST00000335999	NM_001037806.3	1050	taC/taT	0	validated		synonymous	
NCKAP5L		inserm.fr	GRCh37	12	50188655	50188655	+	synonymous_variant	Silent	SNP	C	A	A			CHC1725T																					ENST00000335999.6:c.2988G>T	p.Arg996=	p.R996=	ENST00000335999	NM_001037806.3	996	cgG/cgT	0	not done		synonymous	
ATP8B4		inserm.fr	GRCh37	15	50190331	50190331	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC2115T																					ENST00000284509.6:c.2407A>T	p.Lys803Ter	p.K803*	ENST00000284509	NM_024837.3	803	Aag/Tag	0	not done		damaging	
KCNA1		inserm.fr	GRCh37	12	5021246	5021246	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC736T																					ENST00000382545.3:c.702C>A	p.Phe234Leu	p.F234L	ENST00000382545	NM_000217.2	234	ttC/ttA	0	validated		benign	
ATP8B4		inserm.fr	GRCh37	15	50215657	50215657	+	synonymous_variant	Silent	SNP	G	A	A			CHC2115T																					ENST00000284509.6:c.1677C>T	p.Ser559=	p.S559=	ENST00000284509	NM_024837.3	559	tcC/tcT	0	not done		synonymous	
BRD1		inserm.fr	GRCh37	22	50216888	50216888	+	synonymous_variant	Silent	SNP	G	A	A			CHC1148T																					ENST00000216267.8:c.1078C>T	p.Leu360=	p.L360=	ENST00000216267	NM_014577.1	360	Ctg/Ttg	0	not done		synonymous	
BRD1		inserm.fr	GRCh37	22	50216902	50216902	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1602T																					ENST00000216267.8:c.1064C>T	p.Ala355Val	p.A355V	ENST00000216267	NM_014577.1	355	gCc/gTc	0	not done		probablydamaging	
ATP9A		inserm.fr	GRCh37	20	50217807	50217807	+	synonymous_variant	Silent	SNP	G	A	A			CHC1566T																					ENST00000338821.5:c.3087C>T	p.Val1029=	p.V1029=	ENST00000338821	NM_006045.1	1029	gtC/gtT	0	not done		synonymous	
KCNA1		inserm.fr	GRCh37	12	5021976	5021976	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1055T																					ENST00000382545.3:c.1432T>A	p.Cys478Ser	p.C478S	ENST00000382545	NM_000217.2	478	Tgc/Agc	0	validated		benign	
SEMA3F		inserm.fr	GRCh37	3	50222163	50222163	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000002829.3:c.1372G>A	p.Gly458Ser	p.G458S	ENST00000002829	NM_004186.3	458	Ggt/Agt	0	not done		possiblydamaging	
SEMA3F		inserm.fr	GRCh37	3	50222953	50222953	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2112T																					ENST00000002829.3:c.1534G>A	p.Glu512Lys	p.E512K	ENST00000002829	NM_004186.3	512	Gag/Aag	0	not done		probablydamaging	
GNAT1		inserm.fr	GRCh37	3	50229219	50229219	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC303T									Valid												ENST00000232461.3:c.61G>A	p.Glu21Lys	p.E21K	ENST00000232461	NM_144499.2	21	Gag/Aag	0	validated		possiblydamaging	
GNAT1		inserm.fr	GRCh37	3	50230761	50230761	+	synonymous_variant	Silent	SNP	C	A	A			CHC801T																					ENST00000232461.3:c.213C>A	p.Gly71=	p.G71=	ENST00000232461	NM_144499.2	71	ggC/ggA	0	not done		synonymous	
GNAT1		inserm.fr	GRCh37	3	50231996	50231996	+	synonymous_variant	Silent	SNP	G	A	A			CHC1186T																					ENST00000232461.3:c.771G>A	p.Thr257=	p.T257=	ENST00000232461	NM_144499.2	257	acG/acA	0	not done		synonymous	
TSKS		inserm.fr	GRCh37	19	50245228	50245228	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T																					ENST00000246801.3:c.1411G>T	p.Ala471Ser	p.A471S	ENST00000246801	NM_021733.1	471	Gca/Tca	0	validated		benign	
TSKS		inserm.fr	GRCh37	19	50251699	50251699	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1065T									Valid												ENST00000246801.3:c.427G>T	p.Ala143Ser	p.A143S	ENST00000246801	NM_021733.1	143	Gcc/Tcc	0	validated		probablydamaging	
NEMF		inserm.fr	GRCh37	14	50251937	50251937	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC1725T																					ENST00000298310.5:c.3029+1G>T		p.X1010_splice	ENST00000298310				0	not done		possiblydamaging	
PAPD5		inserm.fr	GRCh37	16	50259189	50259189	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000436909.3:c.1748G>A	p.Ser583Asn	p.S583N	ENST00000436909	NM_001040285.2	583	aGt/aAt	0	not done		probablydamaging	
NEMF		inserm.fr	GRCh37	14	50267323	50267323	+	synonymous_variant	Silent	SNP	G	A	A			BCM321T																					ENST00000298310.5:c.2187C>T	p.Ile729=	p.I729=	ENST00000298310		729	atC/atT	0	validated		synonymous	
NEMF		inserm.fr	GRCh37	14	50272840	50272840	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1534T																					ENST00000298310.5:c.1756C>T	p.Pro586Ser	p.P586S	ENST00000298310		586	Ccc/Tcc	0	validated		probablydamaging	
FAIM2		inserm.fr	GRCh37	12	50283936	50283936	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000320634.3:c.527C>T	p.Thr176Ile	p.T176I	ENST00000320634	NM_012306.3	176	aCc/aTc	0	not done		probablydamaging	
FAIM2		inserm.fr	GRCh37	12	50290841	50290841	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000320634.3:c.407C>T	p.Ala136Val	p.A136V	ENST00000320634	NM_012306.3	136	gCc/gTc	0	not done		benign	
SEMA3B		inserm.fr	GRCh37	3	50306687	50306687	+	upstream_gene_variant	5'Flank	SNP	G	A	A			CHC892T																								ENST00000421735				0	not done		synonymous	
SEMA3B		inserm.fr	GRCh37	3	50312768	50312768	+	intron_variant,non_coding_transcript_variant	Intron	SNP	C	A	A			CHC891T																					ENST00000456210.1:n.625-223C>A		*209*	ENST00000456210				0	not done			
SEMA3B		inserm.fr	GRCh37	3	50312786	50312786	+	intron_variant,non_coding_transcript_variant	Intron	SNP	C	A	A			CHC1704T																					ENST00000456210.1:n.625-205C>A		*209*	ENST00000456210				0	validated			
SEMA3B		inserm.fr	GRCh37	3	50314058	50314058	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000456210.1:n.1146G>A		*382*	ENST00000456210				0	not done		possiblydamaging	
AGBL4		inserm.fr	GRCh37	1	50317188	50317188	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	A	A			CHC469T																					ENST00000371839.1:c.37A>T	p.Asn13Tyr	p.N13Y	ENST00000371839	NM_032785.3	13	Aat/Tat	0	validated		benign	
IFRD2		inserm.fr	GRCh37	3	50326334	50326334	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1600T																					ENST00000429673.2:c.1112G>T	p.Cys371Phe	p.C371F	ENST00000429673		371	tGc/tTc	0	not done		probablydamaging	
MED25		inserm.fr	GRCh37	19	50332242	50332242	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000312865.6:c.420G>A	p.Arg140=	p.R140=	ENST00000312865	NM_030973.3	140	cgG/cgA	0	not done		synonymous	
HYAL3		inserm.fr	GRCh37	3	50332324	50332324	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1207T																					ENST00000336307.1:c.710C>T	p.Ala237Val	p.A237V	ENST00000336307	NM_003549.3	237	gCc/gTc	0	not done		probablydamaging	
HYAL3		inserm.fr	GRCh37	3	50332325	50332325	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1207T																					ENST00000336307.1:c.709G>T	p.Ala237Ser	p.A237S	ENST00000336307	NM_003549.3	237	Gcc/Tcc	0	not done		probablydamaging	
MED25		inserm.fr	GRCh37	19	50335248	50335248	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1629T																					ENST00000312865.6:c.1286G>A	p.Cys429Tyr	p.C429Y	ENST00000312865	NM_030973.3	429	tGc/tAc	0	validated		probablydamaging	
ADCY7		inserm.fr	GRCh37	16	50338462	50338462	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC302T									Valid												ENST00000394697.2:c.1560G>A	p.Lys520=	p.K520=	ENST00000394697		520	aaG/aaA	0	validated		possiblydamaging	
AQP2		inserm.fr	GRCh37	12	50348088	50348088	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000199280.3:c.511G>A	p.Gly171Ser	p.G171S	ENST00000199280	NM_000486.5	171	Ggc/Agc	0	not done		probablydamaging	
PTOV1		inserm.fr	GRCh37	19	50360287	50360287	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC891T																					ENST00000391842.1:c.614T>A	p.Leu205His	p.L205H	ENST00000391842	NM_017432.3	205	cTc/cAc	0	not done		probablydamaging	
PNKP		inserm.fr	GRCh37	19	50365700	50365700	+	synonymous_variant	Silent	SNP	C	A	A			CHC734T																					ENST00000322344.3:c.957G>T	p.Leu319=	p.L319=	ENST00000322344	NM_007254.3	319	ctG/ctT	0	validated		synonymous	
PNKP		inserm.fr	GRCh37	19	50367648	50367648	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM339T																					ENST00000322344.3:c.511G>T	p.Asp171Tyr	p.D171Y	ENST00000322344	NM_007254.3	171	Gat/Tat	0	validated		probablydamaging	
SHROOM4		inserm.fr	GRCh37	X	50377987	50377987	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000376020.2:c.1086C>T	p.Ala362=	p.A362=	ENST00000376020	NM_020717.3	362	gcC/gcT	0	not done		synonymous	
ZMYND10		inserm.fr	GRCh37	3	50381274	50381274	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1715T																					ENST00000231749.3:c.209C>T	p.Thr70Ile	p.T70I	ENST00000231749	NM_015896.2	70	aCa/aTa	0	not done		benign	
SEC14L5		inserm.fr	GRCh37	16	5038243	5038243	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1616T																					ENST00000251170.7:c.307G>A	p.Ala103Thr	p.A103T	ENST00000251170	NM_014692.1	103	Gcc/Acc	0	not done		possiblydamaging	
BRD7		inserm.fr	GRCh37	16	50402153	50402153	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000394689.2:c.106G>T	p.Glu36Ter	p.E36*	ENST00000394689	NM_001173984.2	36	Gaa/Taa	0	not done		damaging	
SEC14L5		inserm.fr	GRCh37	16	5041865	5041865	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000251170.7:c.501G>A	p.Leu167=	p.L167=	ENST00000251170	NM_014692.1	167	ctG/ctA	0	not done		synonymous	
IL17REL		inserm.fr	GRCh37	22	50439192	50439192	+	synonymous_variant	Silent	SNP	C	A	A			CHC1603T																					ENST00000389983.2:c.210G>T	p.Gly70=	p.G70=	ENST00000389983	NM_001001694.2	70	ggG/ggT	0	not done		synonymous	
IKZF1		inserm.fr	GRCh37	7	50444318	50444318	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB231T																					ENST00000331340.3:c.248G>A	p.Arg83Gln	p.R83Q	ENST00000331340	NM_006060.4	83	cGa/cAa	0	validated		probablydamaging	
IKZF1		inserm.fr	GRCh37	7	50444321	50444321	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC510T									Valid												ENST00000331340.3:c.251T>A	p.Met84Lys	p.M84K	ENST00000331340	NM_006060.4	84	aTg/aAg	0	validated		possiblydamaging	
SIGLEC11		inserm.fr	GRCh37	19	50462029	50462029	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000447370.2:c.1234C>T	p.Pro412Ser	p.P412S	ENST00000447370	NM_052884.2	412	Ccc/Tcc	0	not done		benign	
ASIC1		inserm.fr	GRCh37	12	50467613	50467613	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000228468.4:c.559-3383G>A		*187*	ENST00000228468	NM_020039.3			0	not done		synonymous	
TTLL8		inserm.fr	GRCh37	22	50471829	50471829	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000433387.1:c.1133C>T	p.Ala378Val	p.A378V	ENST00000433387		378	gCt/gTt	0	not done		probablydamaging	
FIGNL1		inserm.fr	GRCh37	7	50514714	50514714	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC805T																					ENST00000419119.1:c.272G>T	p.Gly91Val	p.G91V	ENST00000419119		91	gGa/gTa	0	not done		benign	
MLC1		inserm.fr	GRCh37	22	50523280	50523280	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000311597.5:c.52C>T	p.Leu18=	p.L18=	ENST00000311597	NM_015166.3	18	Ctg/Ttg	0	not done		synonymous	
C10orf71		inserm.fr	GRCh37	10	50532530	50532530	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1750T																					ENST00000374144.3:c.1940T>A	p.Leu647Gln	p.L647Q	ENST00000374144		647	cTg/cAg	0	not done		probablydamaging	
C10orf71		inserm.fr	GRCh37	10	50533048	50533048	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000374144.3:c.2458G>A	p.Ala820Thr	p.A820T	ENST00000374144		820	Gct/Act	0	not done			
C10orf71		inserm.fr	GRCh37	10	50533462	50533462	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2352T																					ENST00000374144.3:c.2872T>A	p.Phe958Ile	p.F958I	ENST00000374144		958	Ttc/Atc	0	not done			
C10orf71		inserm.fr	GRCh37	10	50533751	50533751	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000374144.3:c.3161C>A	p.Ala1054Glu	p.A1054E	ENST00000374144		1054	gCg/gAg	0	not done			
C10orf71		inserm.fr	GRCh37	10	50534687	50534687	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000374144.3:c.4097G>A	p.Arg1366His	p.R1366H	ENST00000374144		1366	cGt/cAt	0	validated			
MOV10L1		inserm.fr	GRCh37	22	50564702	50564702	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000262794.5:c.1818+1G>A		p.X606_splice	ENST00000262794	NM_018995.2			0	not done		damaging	
MOV10L1		inserm.fr	GRCh37	22	50566890	50566890	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC301T																					ENST00000262794.5:c.1864C>A	p.Gln622Lys	p.Q622K	ENST00000262794	NM_018995.2	622	Caa/Aaa	0	validated		benign	
LIMA1		inserm.fr	GRCh37	12	50571177	50571177	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1738T																					ENST00000394943.3:c.1953A>T	p.Lys651Asn	p.K651N	ENST00000394943		651	aaA/aaT	0	not done		benign	
PANX2		inserm.fr	GRCh37	22	50615464	50615464	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000395842.2:c.323C>A	p.Pro108His	p.P108H	ENST00000395842	NM_052839.3	108	cCc/cAc	0	not done		probablydamaging	
PANX2		inserm.fr	GRCh37	22	50617503	50617503	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000395842.2:c.1831G>A	p.Ala611Thr	p.A611T	ENST00000395842	NM_052839.3	611	Gcg/Acg	0	not done		benign	
SELO		inserm.fr	GRCh37	22	50654215	50654215	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1185T																					ENST00000380903.2:c.1421C>A	p.Ala474Glu	p.A474E	ENST00000380903	NM_031454.1	474	gCg/gAg	0	not done		benign	
ELAVL4		inserm.fr	GRCh37	1	50661248	50661248	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC320T									Valid												ENST00000357083.4:c.575T>A	p.Val192Glu	p.V192E	ENST00000357083	NM_001144775.1	192	gTg/gAg	0	validated		probablydamaging	
NKD1		inserm.fr	GRCh37	16	50667514	50667514	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000268459.3:c.1235G>A	p.Gly412Asp	p.G412D	ENST00000268459	NM_033119.4	412	gGc/gAc	0	not done		benign	
OR52J3		inserm.fr	GRCh37	11	5068158	5068158	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1745T																					ENST00000380370.1:c.403G>A	p.Ala135Thr	p.A135T	ENST00000380370	NM_001001916.2	135	Gca/Aca	0	not done		benign	
ISL1		inserm.fr	GRCh37	5	50689414	50689414	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC917T																					ENST00000230658.7:c.1020C>A	p.Asn340Lys	p.N340K	ENST00000230658	NM_002202.2	340	aaC/aaA	0	validated		probablydamaging	
ERCC6		inserm.fr	GRCh37	10	50690779	50690779	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1751T																					ENST00000355832.5:c.2123C>T	p.Ser708Phe	p.S708F	ENST00000355832	NM_000124.3	708	tCc/tTc	0	not done		probablydamaging	
NRXN1		inserm.fr	GRCh37	2	50692698	50692698	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	A	A			CHC1725T																					ENST00000404971.1:c.3366G>T	p.Gly1122=	p.G1122=	ENST00000404971	NM_001135659.1	1122	ggG/ggT	0	not done		possiblydamaging	
ZFP64		inserm.fr	GRCh37	20	50705088	50705088	+	synonymous_variant	Silent	SNP	T	A	A			BCB301T																					ENST00000361387.2:c.1071A>T	p.Pro357=	p.P357=	ENST00000361387	NM_199427.2	357	ccA/ccT	0	validated		synonymous	
PLXNB2		inserm.fr	GRCh37	22	50719053	50719053	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC429T									Valid												ENST00000449103.1:c.4040A>T	p.Lys1347Met	p.K1347M	ENST00000449103		1347	aAg/aTg	0	validated		probablydamaging	
PLXNB2		inserm.fr	GRCh37	22	50721296	50721296	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2213T																					ENST00000449103.1:c.2831C>T	p.Ala944Val	p.A944V	ENST00000449103		944	gCg/gTg	0	validated		benign	
GRB10		inserm.fr	GRCh37	7	50742305	50742305	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1040T																					ENST00000398812.2:c.190G>T	p.Glu64Ter	p.E64*	ENST00000398812	NM_005311.4	64	Gag/Tag	0	not done		damaging	
FAM186A		inserm.fr	GRCh37	12	50745085	50745085	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000327337.5:c.5530C>T	p.Pro1844Ser	p.P1844S	ENST00000327337	NM_001145475.1	1844	Ccc/Tcc	0	not done		benign	
DENND6B		inserm.fr	GRCh37	22	50752118	50752118	+	synonymous_variant	Silent	SNP	G	A	A			CHC059T																					ENST00000413817.3:c.1239C>T	p.Ser413=	p.S413=	ENST00000413817	NM_001001794.3	413	agC/agT	0	validated		synonymous	
USP6		inserm.fr	GRCh37	17	5076166	5076166	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2141T																					ENST00000574788.1:c.4114G>A	p.Asp1372Asn	p.D1372N	ENST00000574788		1372	Gac/Aac	0	not done		probablydamaging	
ZFP64		inserm.fr	GRCh37	20	50769429	50769429	+	synonymous_variant	Silent	SNP	G	A	A			CHC961T																					ENST00000216923.4:c.1302C>T	p.Phe434=	p.F434=	ENST00000216923	NM_199426.1	434	ttC/ttT	0	validated		synonymous	
ZFP64		inserm.fr	GRCh37	20	50769672	50769672	+	synonymous_variant	Silent	SNP	G	A	A			CHC1052T																					ENST00000216923.4:c.1059C>T	p.Ser353=	p.S353=	ENST00000216923	NM_199426.1	353	tcC/tcT	0	validated		synonymous	
L2HGDH		inserm.fr	GRCh37	14	50778809	50778809	+	synonymous_variant	Silent	SNP	G	A	A			CHC303T																					ENST00000267436.4:c.60C>T	p.Ala20=	p.A20=	ENST00000267436		20	gcC/gcT	0	validated		synonymous	
MYH14		inserm.fr	GRCh37	19	50783378	50783378	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000601313.1:c.4117G>A	p.Ala1373Thr	p.A1373T	ENST00000601313	NM_001145809.1	1373	Gcc/Acc	0	not done		benign	
CYLD		inserm.fr	GRCh37	16	50785679	50785679	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2098T																					ENST00000398568.2:c.669G>A	p.Met223Ile	p.M223I	ENST00000398568	NM_001042412.1	223	atG/atA	0	not done		benign	
OR52E2		inserm.fr	GRCh37	11	5080106	5080106	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000321522.2:c.752C>T	p.Ala251Val	p.A251V	ENST00000321522	NM_001005164.2	251	gCc/gTc	0	not done		benign	
OR52E2		inserm.fr	GRCh37	11	5080423	5080423	+	synonymous_variant	Silent	SNP	C	A	A			CHC1595T																					ENST00000321522.2:c.435G>T	p.Val145=	p.V145=	ENST00000321522	NM_001005164.2	145	gtG/gtT	0	validated		synonymous	
CYLD		inserm.fr	GRCh37	16	50813914	50813914	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC197T									Valid												ENST00000398568.2:c.1468C>A	p.Gln490Lys	p.Q490K	ENST00000398568	NM_001042412.1	490	Cag/Aag	0	validated		possiblydamaging	
CYLD		inserm.fr	GRCh37	16	50818327	50818327	+	synonymous_variant	Silent	SNP	G	A	A			CHC1749T																					ENST00000398568.2:c.1905G>A	p.Glu635=	p.E635=	ENST00000398568	NM_001042412.1	635	gaG/gaA	0	not done		synonymous	
SLC18A3		inserm.fr	GRCh37	10	50819038	50819038	+	synonymous_variant	Silent	SNP	G	A	A			CHC433T																					ENST00000374115.3:c.252G>A	p.Leu84=	p.L84=	ENST00000374115	NM_003055.2	84	ctG/ctA	0	validated		synonymous	
SLC18A3		inserm.fr	GRCh37	10	50819151	50819151	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1010T																					ENST00000374115.3:c.365T>A	p.Val122Glu	p.V122E	ENST00000374115	NM_003055.2	122	gTg/gAg	0	not done		benign	
PPP6R2		inserm.fr	GRCh37	22	50860770	50860770	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000395741.3:c.936G>A	p.Arg312=	p.R312=	ENST00000395741		312	cgG/cgA	0	not done		synonymous	
PPP1R3G		inserm.fr	GRCh37	6	5086380	5086380	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000405617.2:c.661G>A	p.Glu221Lys	p.E221K	ENST00000405617	NM_001145115.1	221	Gag/Aag	0	not done		probablydamaging	
LARP4		inserm.fr	GRCh37	12	50869453	50869453	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC258T																					ENST00000398473.2:c.1981G>A	p.Val661Ile	p.V661I	ENST00000398473	NM_199188.2	661	Gtt/Att	0	validated		benign	
CHAT		inserm.fr	GRCh37	10	50872850	50872850	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM723T																					ENST00000337653.2:c.2005T>A	p.Cys669Ser	p.C669S	ENST00000337653	NM_020549.4	669	Tgc/Agc	0	validated		probablydamaging	
DMRTA2		inserm.fr	GRCh37	1	50884872	50884872	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000404795.3:c.1094C>T	p.Ala365Val	p.A365V	ENST00000404795	NM_032110.2	365	gCg/gTg	0	not done		benign	
SBF1		inserm.fr	GRCh37	22	50900075	50900075	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000380817.3:c.2716C>T	p.Pro906Ser	p.P906S	ENST00000380817	NM_002972.2	906	Ccg/Tcg	0	not done		possiblydamaging	
POLD1		inserm.fr	GRCh37	19	50909711	50909711	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000440232.2:c.1431G>A	p.Val477=	p.V477=	ENST00000440232	NM_002691.3	477	gtG/gtA	0	not done		synonymous	
POLD1		inserm.fr	GRCh37	19	50910427	50910427	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000440232.2:c.1682G>A	p.Arg561Gln	p.R561Q	ENST00000440232	NM_002691.3	561	cGg/cAg	0	not done		probablydamaging	
DCC		inserm.fr	GRCh37	18	50912508	50912508	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1040T																					ENST00000442544.2:c.2455G>A	p.Asp819Asn	p.D819N	ENST00000442544	NM_005215.3	819	Gat/Aat	0	not done		possiblydamaging	
DCC		inserm.fr	GRCh37	18	50918152	50918152	+	synonymous_variant	Silent	SNP	G	A	A			BCB325T																					ENST00000442544.2:c.2583G>A	p.Arg861=	p.R861=	ENST00000442544	NM_005215.3	861	agG/agA	0	validated		synonymous	
SPIB		inserm.fr	GRCh37	19	50931431	50931431	+	synonymous_variant	Silent	SNP	G	A	A			CHC2321T																					ENST00000595883.1:c.627G>A	p.Ala209=	p.A209=	ENST00000595883	NM_001244000.1	209	gcG/gcA	0	validated		synonymous	
MYBPC2		inserm.fr	GRCh37	19	50939393	50939393	+	synonymous_variant	Silent	SNP	G	A	A			CHC961T																					ENST00000357701.5:c.321G>A	p.Lys107=	p.K107=	ENST00000357701	NM_004533.3	107	aaG/aaA	0	validated		synonymous	
LMF2		inserm.fr	GRCh37	22	50943077	50943077	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1731T																					ENST00000474879.2:c.1517G>T	p.Trp506Leu	p.W506L	ENST00000474879	NM_033200.2	506	tGg/tTg	0	not done		probablydamaging	
LMF2		inserm.fr	GRCh37	22	50943102	50943102	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1731T																					ENST00000474879.2:c.1492G>T	p.Val498Leu	p.V498L	ENST00000474879	NM_033200.2	498	Gtg/Ttg	0	not done		benign	
MYBPC2		inserm.fr	GRCh37	19	50958868	50958868	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2029T																					ENST00000357701.5:c.2305G>A	p.Asp769Asn	p.D769N	ENST00000357701	NM_004533.3	769	Gat/Aat	0	not done		possiblydamaging	
MYBPC2		inserm.fr	GRCh37	19	50965188	50965188	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000357701.5:c.3123G>A	p.Glu1041=	p.E1041=	ENST00000357701	NM_004533.3	1041	gaG/gaA	0	not done		synonymous	
KLHDC7B		inserm.fr	GRCh37	22	50987591	50987591	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000395676.2:c.996G>A	p.Trp332Ter	p.W332*	ENST00000395676	NM_138433.3	332	tgG/tgA	0	not done		damaging	
KLHDC7B		inserm.fr	GRCh37	22	50988014	50988014	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000395676.2:c.1419G>A	p.Trp473Ter	p.W473*	ENST00000395676	NM_138433.3	473	tgG/tgA	0	not done		damaging	
ASPDH		inserm.fr	GRCh37	19	51015519	51015519	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1602T																					ENST00000389208.4:c.682G>T	p.Glu228Ter	p.E228*	ENST00000389208	NM_001114598.1	228	Gag/Tag	0	not done		damaging	
LRRC4B		inserm.fr	GRCh37	19	51022137	51022137	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1061T									Valid												ENST00000599957.1:c.833C>T	p.Ser278Leu	p.S278L	ENST00000599957		278	tCg/tTg	0	validated		probablydamaging	
MAPK8IP2		inserm.fr	GRCh37	22	51042789	51042789	+	synonymous_variant	Silent	SNP	G	A	A			CHC2127T																					ENST00000329492.3:c.1059G>A	p.Leu353=	p.L353=	ENST00000329492	NM_012324.3	353	ctG/ctA	0	not done		synonymous	
MAPK8IP2		inserm.fr	GRCh37	22	51048683	51048683	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000329492.3:c.2344G>A	p.Ala782Thr	p.A782T	ENST00000329492	NM_012324.3	782	Gcc/Acc	0	not done		probablydamaging	
LRRC4B		inserm.fr	GRCh37	19	51051956	51051956	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000599957.1:c.140C>T	p.Ala47Val	p.A47V	ENST00000599957		47	gCc/gTc	0	not done		benign	
ARSA		inserm.fr	GRCh37	22	51066130	51066130	+	synonymous_variant	Silent	SNP	C	A	A			CHC961T																					ENST00000216124.5:c.78G>T	p.Val26=	p.V26=	ENST00000216124	NM_000487.5	26	gtG/gtT	0	validated		synonymous	
SHANK3		inserm.fr	GRCh37	22	51117014	51117014	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1743T																					ENST00000262795.3:c.341C>A	p.Ala114Glu	p.A114E	ENST00000262795	NM_033517.1	114	gCg/gAg	0	not done		damaging	
SYT3		inserm.fr	GRCh37	19	51133272	51133272	+	synonymous_variant	Silent	SNP	C	A	A			CHC1207T																					ENST00000338916.4:c.831G>T	p.Gly277=	p.G277=	ENST00000338916	NM_032298.2	277	ggG/ggT	0	not done		synonymous	
SHANK3		inserm.fr	GRCh37	22	51142593	51142593	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000262795.3:c.1737-1G>A		p.X579_splice	ENST00000262795	NM_033517.1			0	not done		damaging	
CXorf67		inserm.fr	GRCh37	X	51150231	51150231	+	synonymous_variant	Silent	SNP	C	A	A			CHC805T																					ENST00000342995.2:c.363C>A	p.Ala121=	p.A121=	ENST00000342995		121	gcC/gcA	0	not done		synonymous	
SHANK3		inserm.fr	GRCh37	22	51160686	51160686	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000262795.3:c.4473G>A	p.Gly1491=	p.G1491=	ENST00000262795	NM_033517.1	1491	ggG/ggA	0	not done		synonymous	
SHANK1		inserm.fr	GRCh37	19	51165647	51165647	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000293441.1:c.6061C>T	p.Pro2021Ser	p.P2021S	ENST00000293441	NM_016148.2	2021	Ccc/Tcc	0	not done		possiblydamaging	
SALL1		inserm.fr	GRCh37	16	51172973	51172973	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC2112T																					ENST00000251020.4:c.3160C>T	p.Arg1054Ter	p.R1054*	ENST00000251020	NM_002968.2	1054	Cga/Tga	0	not done		damaging	
SALL1		inserm.fr	GRCh37	16	51173286	51173286	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000251020.4:c.2847G>T	p.Gln949His	p.Q949H	ENST00000251020	NM_002968.2	949	caG/caT	0	not done		benign	
SALL1		inserm.fr	GRCh37	16	51174383	51174383	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1750T																					ENST00000251020.4:c.1750G>T	p.Ala584Ser	p.A584S	ENST00000251020	NM_002968.2	584	Gcc/Tcc	0	not done		benign	
SHANK1		inserm.fr	GRCh37	19	51175329	51175329	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000293441.1:c.2620C>T	p.Arg874Cys	p.R874C	ENST00000293441	NM_016148.2	874	Cgt/Tgt	0	not done		probablydamaging	
SHANK1		inserm.fr	GRCh37	19	51175354	51175354	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000293441.1:c.2595C>T	p.His865=	p.H865=	ENST00000293441	NM_016148.2	865	caC/caT	0	not done		synonymous	
SHANK1		inserm.fr	GRCh37	19	51205844	51205844	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1600T																					ENST00000293441.1:c.1627A>T	p.Ser543Cys	p.S543C	ENST00000293441	NM_016148.2	543	Agc/Tgc	0	not done		probablydamaging	
SHANK1		inserm.fr	GRCh37	19	51217077	51217077	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000293441.1:c.770C>T	p.Ala257Val	p.A257V	ENST00000293441	NM_016148.2	257	gCc/gTc	0	not done		probablydamaging	
SHANK1		inserm.fr	GRCh37	19	51219660	51219660	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000293441.1:c.331C>T	p.Leu111=	p.L111=	ENST00000293441	NM_016148.2	111	Ctg/Ttg	0	not done		synonymous	
AP4E1		inserm.fr	GRCh37	15	51221213	51221213	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC097T																					ENST00000261842.5:c.550G>A	p.Val184Ile	p.V184I	ENST00000261842	NM_001252127.1	184	Gta/Ata	0	not done		benign	
NIN		inserm.fr	GRCh37	14	51224648	51224648	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM567T																					ENST00000382041.3:c.3100A>T	p.Ser1034Cys	p.S1034C	ENST00000382041	NM_016350.4	1034	Agt/Tgt	0	validated		benign	
AP4E1		inserm.fr	GRCh37	15	51250794	51250794	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000261842.5:c.1654G>A	p.Ala552Thr	p.A552T	ENST00000261842	NM_001252127.1	552	Gcc/Acc	0	not done		benign	
NRXN1		inserm.fr	GRCh37	2	51255196	51255196	+	synonymous_variant	Silent	SNP	G	A	A			CHC1191T																					ENST00000404971.1:c.216C>T	p.Asp72=	p.D72=	ENST00000404971	NM_001135659.1	72	gaC/gaT	0	not done		synonymous	
COBL		inserm.fr	GRCh37	7	51258584	51258584	+	synonymous_variant	Silent	SNP	G	A	A			CHC1566T																					ENST00000265136.7:c.648C>T	p.Leu216=	p.L216=	ENST00000265136	NM_015198.3	216	ctC/ctT	0	not done		synonymous	
NIN		inserm.fr	GRCh37	14	51259465	51259465	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000382041.3:c.400C>T	p.Arg134Trp	p.R134W	ENST00000382041	NM_016350.4	134	Cgg/Tgg	0	validated		probablydamaging	
NIN		inserm.fr	GRCh37	14	51259510	51259510	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM711T																					ENST00000382041.3:c.355G>T	p.Glu119Ter	p.E119*	ENST00000382041	NM_016350.4	119	Gag/Tag	0	validated		damaging	
COBL		inserm.fr	GRCh37	7	51261136	51261136	+	synonymous_variant	Silent	SNP	C	A	A			CHC218T																					ENST00000265136.7:c.396G>T	p.Val132=	p.V132=	ENST00000265136	NM_015198.3	132	gtG/gtT	0	not done		synonymous	
GPR32		inserm.fr	GRCh37	19	51274504	51274504	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC465T																					ENST00000270590.4:c.647G>A	p.Gly216Glu	p.G216E	ENST00000270590	NM_001506.2	216	gGg/gAg	0	validated		benign	
ACPT		inserm.fr	GRCh37	19	51295512	51295512	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2213T																					ENST00000270593.1:c.563G>A	p.Arg188His	p.R188H	ENST00000270593	NM_033068.2	188	cGc/cAc	0	not done		benign	
ACPT		inserm.fr	GRCh37	19	51297158	51297158	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1743T																					ENST00000270593.1:c.792T>A	p.Asn264Lys	p.N264K	ENST00000270593	NM_033068.2	264	aaT/aaA	0	not done		benign	
KLK1		inserm.fr	GRCh37	19	51322459	51322459	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC051T																					ENST00000301420.2:c.780G>T	p.Glu260Asp	p.E260D	ENST00000301420	NM_002257.3	260	gaG/gaT	0	validated		benign	
KLK3		inserm.fr	GRCh37	19	51362795	51362795	+	intron_variant	Intron	SNP	C	A	A			CHC912T																					ENST00000326003.2:c.631-433C>A		*211*	ENST00000326003	NM_001030047.1			0	validated		benign	
KLK3		inserm.fr	GRCh37	19	51362865	51362865	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000326003.2:c.631-363G>A		*211*	ENST00000326003	NM_001030047.1			0	not done			
PYGL		inserm.fr	GRCh37	14	51372199	51372199	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC902T																					ENST00000216392.7:c.2455A>T	p.Lys819Ter	p.K819*	ENST00000216392	NM_002863.4	819	Aaa/Taa	0	not done		damaging	
PYGL		inserm.fr	GRCh37	14	51382618	51382618	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1186T																					ENST00000216392.7:c.1164G>T	p.Trp388Cys	p.W388C	ENST00000216392	NM_002863.4	388	tgG/tgT	0	not done		probablydamaging	
DOCK3		inserm.fr	GRCh37	3	51395492	51395492	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T									Valid												ENST00000266037.9:c.4868G>A	p.Arg1623Gln	p.R1623Q	ENST00000266037	NM_004947.4	1623	cGg/cAg	0	validated		probablydamaging	
PYGL		inserm.fr	GRCh37	14	51398432	51398432	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1152T																					ENST00000216392.7:c.487G>T	p.Glu163Ter	p.E163*	ENST00000216392	NM_002863.4	163	Gaa/Taa	0	not done		damaging	
FAM86A		inserm.fr	GRCh37	16	5141828	5141828	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1035T																					ENST00000427587.4:c.309G>T	p.Lys103Asn	p.K103N	ENST00000427587	NM_201400.2	103	aaG/aaT	0	validated		benign	
VPRBP		inserm.fr	GRCh37	3	51450768	51450768	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1201T																					ENST00000423656.1:c.2717G>T	p.Arg906Leu	p.R906L	ENST00000423656		906	cGa/cTa	0	not done		probablydamaging	
KLK5		inserm.fr	GRCh37	19	51453332	51453332	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000336334.3:c.114C>T	p.Pro38=	p.P38=	ENST00000336334	NM_012427.4	38	ccC/ccT	0	not done		synonymous	
VPRBP		inserm.fr	GRCh37	3	51457620	51457620	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC798T																					ENST00000423656.1:c.1517C>T	p.Pro506Leu	p.P506L	ENST00000423656		506	cCc/cTc	0	validated		benign	
VPRBP		inserm.fr	GRCh37	3	51457723	51457723	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1185T																					ENST00000423656.1:c.1414C>T	p.Arg472Ter	p.R472*	ENST00000423656		472	Cga/Tga	0	not done		damaging	
CSRNP2		inserm.fr	GRCh37	12	51461727	51461727	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1717T																					ENST00000228515.1:c.437C>T	p.Ser146Leu	p.S146L	ENST00000228515	NM_030809.2	146	tCg/tTg	0	not done		probablydamaging	
KLK7		inserm.fr	GRCh37	19	51483574	51483574	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC912T									Valid												ENST00000391807.1:c.391G>T	p.Val131Phe	p.V131F	ENST00000391807	NM_139277.2	131	Gtc/Ttc	0	validated		probablydamaging	
PKHD1		inserm.fr	GRCh37	6	51483904	51483904	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM617T																					ENST00000371117.3:c.12200C>T	p.Pro4067Leu	p.P4067L	ENST00000371117	NM_138694.3	4067	cCg/cTg	0	validated		probablydamaging	
GSPT2		inserm.fr	GRCh37	X	51486733	51486733	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000340438.4:c.11G>A	p.Gly4Asp	p.G4D	ENST00000340438	NM_018094.4	4	gGc/gAc	0	not done		possiblydamaging	
GSPT2		inserm.fr	GRCh37	X	51487020	51487020	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB231T																					ENST00000340438.4:c.298C>A	p.Gln100Lys	p.Q100K	ENST00000340438	NM_018094.4	100	Caa/Aaa	0	validated		benign	
KLK8		inserm.fr	GRCh37	19	51499403	51499403	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000391806.2:c.830C>T	p.Pro277Leu	p.P277L	ENST00000391806		277	cCc/cTc	0	not done		probablydamaging	
TFCP2		inserm.fr	GRCh37	12	51502991	51502991	+	synonymous_variant	Silent	SNP	T	A	A			CHC1602T																					ENST00000257915.5:c.630A>T	p.Arg210=	p.R210=	ENST00000257915	NM_005653.4	210	cgA/cgT	0	not done		synonymous	
KLK9		inserm.fr	GRCh37	19	51506423	51506423	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	A	A			CHC1010T									Valid												ENST00000250366.6:c.697G>T	p.Val233Phe	p.V233F	ENST00000250366	NM_012315.1	233	Gtc/Ttc	0	validated		probablydamaging	
KLK9		inserm.fr	GRCh37	19	51512763	51512763	+	missense_variant,splice_region_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000250366.6:c.41C>T	p.Ala14Val	p.A14V	ENST00000250366	NM_012315.1	14	gCa/gTa	0	not done		benign	
OR4C46		inserm.fr	GRCh37	11	51515632	51515632	+	synonymous_variant	Silent	SNP	C	A	A			CHC1708T																					ENST00000328188.1:c.351C>A	p.Ala117=	p.A117=	ENST00000328188	NM_001004703.1	117	gcC/gcA	0	not done		synonymous	
OR4C46		inserm.fr	GRCh37	11	51515857	51515857	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000328188.1:c.576G>A	p.Met192Ile	p.M192I	ENST00000328188	NM_001004703.1	192	atG/atA	0	not done		benign	
KLK11		inserm.fr	GRCh37	19	51526357	51526357	+	synonymous_variant	Silent	SNP	G	A	A			CHC1742T																					ENST00000594768.1:c.687C>T	p.Asp229=	p.D229=	ENST00000594768	NM_144947.1	229	gaC/gaT	0	not done		synonymous	
KLK11		inserm.fr	GRCh37	19	51527922	51527922	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM397T																					ENST00000594768.1:c.265C>T	p.Leu89Phe	p.L89F	ENST00000594768	NM_144947.1	89	Ctc/Ttc	0	validated		probablydamaging	
CYP19A1		inserm.fr	GRCh37	15	51529144	51529144	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2110Tbis																					ENST00000396402.1:c.208A>T	p.Ile70Phe	p.I70F	ENST00000396402	NM_000103.3	70	Atc/Ttc	0	not done		probablydamaging	
KCNA5		inserm.fr	GRCh37	12	5153382	5153382	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000252321.3:c.69G>A	p.Arg23=	p.R23=	ENST00000252321	NM_002234.3	23	cgG/cgA	0	not done		synonymous	
KCNA5		inserm.fr	GRCh37	12	5154507	5154507	+	synonymous_variant	Silent	SNP	C	A	A			CHC205T																					ENST00000252321.3:c.1194C>A	p.Ile398=	p.I398=	ENST00000252321	NM_002234.3	398	atC/atA	0	validated		synonymous	
KLK13		inserm.fr	GRCh37	19	51559852	51559852	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000595793.1:c.826C>T	p.Pro276Ser	p.P276S	ENST00000595793	NM_015596.1	276	Cca/Tca	0	not done		benign	
TRIM9		inserm.fr	GRCh37	14	51561058	51561058	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000298355.3:c.600C>T	p.Pro200=	p.P200=	ENST00000298355	NM_015163.5	200	ccC/ccT	0	not done		synonymous	
KLK13		inserm.fr	GRCh37	19	51561904	51561904	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000595793.1:c.536C>T	p.Ala179Val	p.A179V	ENST00000595793	NM_015596.1	179	gCc/gTc	0	not done		possiblydamaging	
KLK14		inserm.fr	GRCh37	19	51582180	51582180	+	synonymous_variant	Silent	SNP	C	A	A			CHC892T																					ENST00000391802.1:c.543G>T	p.Val181=	p.V181=	ENST00000391802	NM_022046.4	181	gtG/gtT	0	not done		synonymous	
POU6F1		inserm.fr	GRCh37	12	51586166	51586166	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1148T																					ENST00000389243.4:c.338C>T	p.Ala113Val	p.A113V	ENST00000389243		113	gCt/gTt	0	not done		benign	
SIGLEC9		inserm.fr	GRCh37	19	51628458	51628458	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC301T									Valid												ENST00000440804.3:c.227C>A	p.Thr76Lys	p.T76K	ENST00000440804	NM_001198558.1	76	aCa/aAa	0	validated		probablydamaging	
SIGLECP3		inserm.fr	GRCh37	19	51671877	51671877	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000341811.4:n.721G>A		*241*	ENST00000341811				0	not done			
RAD54L2		inserm.fr	GRCh37	3	51679611	51679611	+	synonymous_variant	Silent	SNP	G	A	A			CHC469T																					ENST00000409535.2:c.2661G>A	p.Arg887=	p.R887=	ENST00000409535	NM_015106.2	887	cgG/cgA	0	validated		synonymous	
BIN2		inserm.fr	GRCh37	12	51685803	51685803	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000267012.4:c.1087C>T	p.Pro363Ser	p.P363S	ENST00000267012	NM_016293.2	363	Ccc/Tcc	0	not done		benign	
TEX264		inserm.fr	GRCh37	3	51708418	51708418	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000415259.1:c.98G>A	p.Gly33Glu	p.G33E	ENST00000415259		33	gGg/gAg	0	not done		benign	
MBD2		inserm.fr	GRCh37	18	51729456	51729456	+	intron_variant	Intron	SNP	T	A	A			CHC1035T																					ENST00000256429.3:c.702+1912A>T		*234*	ENST00000256429	NM_003927.4			0	validated			
CELA1		inserm.fr	GRCh37	12	51736480	51736480	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1626T																					ENST00000293636.1:c.205A>T	p.Lys69Ter	p.K69*	ENST00000293636	NM_001971.5	69	Aag/Tag	0	not done		damaging	
GRM2		inserm.fr	GRCh37	3	51749559	51749559	+	synonymous_variant	Silent	SNP	G	A	A			CHC891T																					ENST00000395052.3:c.1770G>A	p.Val590=	p.V590=	ENST00000395052	NM_000839.3	590	gtG/gtA	0	not done		synonymous	
TTC39A		inserm.fr	GRCh37	1	51768074	51768074	+	synonymous_variant	Silent	SNP	C	A	A			CHC322T																					ENST00000413473.2:c.858G>T	p.Leu286=	p.L286=	ENST00000413473	NM_001144832.1	286	ctG/ctT	0	validated		synonymous	
POLI		inserm.fr	GRCh37	18	51797744	51797744	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000579534.1:c.130G>A	p.Val44Met	p.V44M	ENST00000579534	NM_007195.2	44	Gtg/Atg	0	not done		benign	
FAM124A		inserm.fr	GRCh37	13	51825773	51825773	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000280057.6:c.378G>A	p.Arg126=	p.R126=	ENST00000280057	NM_145019.3	126	cgG/cgA	0	not done		synonymous	
TSHZ2		inserm.fr	GRCh37	20	51872961	51872961	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000371497.5:c.2964G>A	p.Glu988=	p.E988=	ENST00000371497	NM_173485.5	988	gaG/gaA	0	not done		synonymous	
SLC4A8		inserm.fr	GRCh37	12	51883737	51883737	+	splice_donor_variant	Splice_Site	SNP	T	A	A			CHC2216T																					ENST00000453097.2:c.2700+2T>A		p.X900_splice	ENST00000453097	NM_001039960.2			0	not done		damaging	
PKHD1		inserm.fr	GRCh37	6	51890921	51890921	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1044T																					ENST00000371117.3:c.3687G>T	p.Trp1229Cys	p.W1229C	ENST00000371117	NM_138694.3	1229	tgG/tgT	0	not done		probablydamaging	
KIF2B		inserm.fr	GRCh37	17	51901162	51901162	+	synonymous_variant	Silent	SNP	T	A	A			CHC465T																					ENST00000268919.4:c.768T>A	p.Thr256=	p.T256=	ENST00000268919	NM_032559.4	256	acT/acA	0	validated		synonymous	
SIGLEC10		inserm.fr	GRCh37	19	51918356	51918356	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000356298.5:c.1337C>T	p.Pro446Leu	p.P446L	ENST00000356298	NM_033130.4	446	cCg/cTg	0	not done		possiblydamaging	
SIGLEC8		inserm.fr	GRCh37	19	51960852	51960852	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1207T																					ENST00000321424.3:c.596C>T	p.Pro199Leu	p.P199L	ENST00000321424	NM_014442.2	199	cCg/cTg	0	not done		benign	
SIGLEC8		inserm.fr	GRCh37	19	51961621	51961621	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000321424.3:c.21G>T	p.Leu7=	p.L7=	ENST00000321424	NM_014442.2	7	ctG/ctT	0	not done		synonymous	
RRP9		inserm.fr	GRCh37	3	51968546	51968546	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC306T									Valid												ENST00000232888.6:c.1202G>T	p.Arg401Leu	p.R401L	ENST00000232888	NM_004704.4	401	cGg/cTg	0	validated		possiblydamaging	
PARP3		inserm.fr	GRCh37	3	51978536	51978536	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000398755.3:c.464G>A	p.Gly155Asp	p.G155D	ENST00000398755		155	gGc/gAc	0	not done		probablydamaging	
PARP3		inserm.fr	GRCh37	3	51979909	51979909	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC451T																					ENST00000398755.3:c.1073G>A	p.Arg358Lys	p.R358K	ENST00000398755		358	aGg/aAg	0	validated		benign	
PARP3		inserm.fr	GRCh37	3	51982469	51982469	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000398755.3:c.1596G>A	p.Leu532=	p.L532=	ENST00000398755		532	ctG/ctA	0	not done		synonymous	
CEACAM18		inserm.fr	GRCh37	19	51984671	51984671	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1044T																					ENST00000451626.1:c.608C>A	p.Ser203Tyr	p.S203Y	ENST00000451626		203	tCc/tAc	0	not done		possiblydamaging	
PCBP4		inserm.fr	GRCh37	3	51995242	51995242	+	synonymous_variant	Silent	SNP	G	A	A			CHC703T																					ENST00000461554.1:c.15C>T	p.Asp5=	p.D5=	ENST00000461554	NM_001174100.1	5	gaC/gaT	0	validated		synonymous	
SIGLEC12		inserm.fr	GRCh37	19	52002432	52002432	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1209T																					ENST00000291707.3:c.1127A>T	p.Asp376Val	p.D376V	ENST00000291707	NM_053003.2	376	gAt/gTt	0	not done		possiblydamaging	
SIGLEC12		inserm.fr	GRCh37	19	52002740	52002740	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000291707.3:c.1039C>T	p.Pro347Ser	p.P347S	ENST00000291707	NM_053003.2	347	Cct/Tct	0	not done		probablydamaging	
SIGLEC12		inserm.fr	GRCh37	19	52003336	52003336	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1611T																					ENST00000291707.3:c.646A>T	p.Thr216Ser	p.T216S	ENST00000291707	NM_053003.2	216	Acc/Tcc	0	not done		probablydamaging	
SIGLEC12		inserm.fr	GRCh37	19	52003399	52003399	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000291707.3:c.583G>T	p.Ala195Ser	p.A195S	ENST00000291707	NM_053003.2	195	Gcc/Tcc	0	not done		possiblydamaging	
ABHD14B		inserm.fr	GRCh37	3	52004102	52004102	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC197T																					ENST00000483233.1:c.310C>T	p.Pro104Ser	p.P104S	ENST00000483233		104	Ccc/Tcc	0	validated		benign	
IL17A		inserm.fr	GRCh37	6	52054046	52054046	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1738T																					ENST00000340057.1:c.424G>A	p.Val142Met	p.V142M	ENST00000340057	NM_002190.2	142	Gtg/Atg	0	not done		probablydamaging	
TMOD2		inserm.fr	GRCh37	15	52073327	52073327	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1185T																					ENST00000249700.4:c.580G>A	p.Ala194Thr	p.A194T	ENST00000249700	NM_001142885.1	194	Gcc/Acc	0	not done		benign	
SCN8A		inserm.fr	GRCh37	12	52099353	52099353	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000354534.6:c.1287G>A	p.Glu429=	p.E429=	ENST00000354534	NM_014191.3	429	gaG/gaA	0	not done		synonymous	
PTPRS		inserm.fr	GRCh37	19	5212009	5212009	+	synonymous_variant	Silent	SNP	G	A	A			CHC1745T																					ENST00000357368.4:c.5022C>T	p.Gly1674=	p.G1674=	ENST00000357368	NM_002850.3	1674	ggC/ggT	0	not done		synonymous	
SIGLEC5		inserm.fr	GRCh37	19	52129328	52129328	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB111T									Valid												ENST00000429354.3:c.1421A>T	p.Glu474Val	p.E474V	ENST00000429354		474	gAg/gTg	0	validated		probablydamaging	
SIGLEC14		inserm.fr	GRCh37	19	52146862	52146862	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000360844.6:c.1076C>T	p.Thr359Ile	p.T359I	ENST00000360844	NM_001098612.1	359	aCc/aTc	0	not done		possiblydamaging	
ITGA1		inserm.fr	GRCh37	5	52177831	52177831	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC121T									Valid												ENST00000282588.6:c.751G>A	p.Ala251Thr	p.A251T	ENST00000282588	NM_181501.1	251	Gct/Act	0	validated		possiblydamaging	
POC1A		inserm.fr	GRCh37	3	52179882	52179882	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC306T									Valid												ENST00000296484.2:c.659G>T	p.Arg220Leu	p.R220L	ENST00000296484	NM_015426.4	220	cGg/cTg	0	validated		possiblydamaging	
ZNF217		inserm.fr	GRCh37	20	52193233	52193233	+	synonymous_variant	Silent	SNP	G	A	A			BCM375T																					ENST00000371471.2:c.2070C>T	p.Ser690=	p.S690=	ENST00000371471		690	tcC/tcT	0	validated		synonymous	
FRMD6		inserm.fr	GRCh37	14	52194561	52194561	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000344768.5:c.1683G>A	p.Leu561=	p.L561=	ENST00000344768		561	ctG/ctA	0	not done		synonymous	
OSBPL9		inserm.fr	GRCh37	1	52211231	52211231	+	synonymous_variant	Silent	SNP	T	A	A			CHC432T																					ENST00000447887.1:c.411T>A	p.Pro137=	p.P137=	ENST00000447887		137	ccT/ccA	0	not done		synonymous	
FIGNL2		inserm.fr	GRCh37	12	52215226	52215226	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000564840.1:n.974C>T		*325*	ENST00000564840				0	not done		synonymous	
FIGNL2		inserm.fr	GRCh37	12	52216187	52216187	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC1055T									Valid												ENST00000564840.1:n.13C>T		*5*	ENST00000564840				0	validated		probablydamaging	
HAS1		inserm.fr	GRCh37	19	52216950	52216950	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000222115.1:c.1467C>T	p.Gly489=	p.G489=	ENST00000222115	NM_001523.2	489	ggC/ggT	0	not done		synonymous	
HAS1		inserm.fr	GRCh37	19	52217127	52217127	+	synonymous_variant	Silent	SNP	C	A	A			BCB109T																					ENST00000222115.1:c.1290G>T	p.Ala430=	p.A430=	ENST00000222115	NM_001523.2	430	gcG/gcT	0	validated		synonymous	
OR51V1		inserm.fr	GRCh37	11	5221746	5221746	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000321255.1:c.185C>T	p.Pro62Leu	p.P62L	ENST00000321255	NM_001004760.2	62	cCa/cTa	0	not done		benign	
HAS1		inserm.fr	GRCh37	19	52220290	52220290	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC306T																					ENST00000222115.1:c.859G>T	p.Val287Leu	p.V287L	ENST00000222115	NM_001523.2	287	Gta/Tta	0	validated		benign	
HAS1		inserm.fr	GRCh37	19	52222999	52222999	+	synonymous_variant	Silent	SNP	C	A	A			CHC1154T																					ENST00000222115.1:c.162G>T	p.Leu54=	p.L54=	ENST00000222115	NM_001523.2	54	ctG/ctT	0	not done		synonymous	
ITGA1		inserm.fr	GRCh37	5	52223414	52223414	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000282588.6:c.2614G>A	p.Ala872Thr	p.A872T	ENST00000282588	NM_181501.1	872	Gct/Act	0	not done		benign	
PTPRS		inserm.fr	GRCh37	19	5222943	5222943	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1626T																					ENST00000357368.4:c.2860G>T	p.Val954Leu	p.V954L	ENST00000357368	NM_002850.3	954	Gtg/Ttg	0	not done		benign	
ALAS1		inserm.fr	GRCh37	3	52238931	52238931	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	A	A			BCM695T									Valid												ENST00000394965.2:c.800T>A	p.Met267Lys	p.M267K	ENST00000394965	NM_000688.5	267	aTg/aAg	0	validated		damaging	
OSBPL9		inserm.fr	GRCh37	1	52248257	52248257	+	synonymous_variant	Silent	SNP	C	A	A			CHC1207T																					ENST00000447887.1:c.1485C>A	p.Pro495=	p.P495=	ENST00000447887		495	ccC/ccA	0	validated		synonymous	
FPR1		inserm.fr	GRCh37	19	52249896	52249896	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1531T																					ENST00000595042.1:c.352C>T	p.Leu118Phe	p.L118F	ENST00000595042	NM_001193306.1	118	Ctc/Ttc	0	not done		benign	
FPR1		inserm.fr	GRCh37	19	52249897	52249897	+	synonymous_variant	Silent	SNP	G	A	A			CHC1531T																					ENST00000595042.1:c.351C>T	p.Ala117=	p.A117=	ENST00000595042	NM_001193306.1	117	gcC/gcT	0	not done		synonymous	
TLR9		inserm.fr	GRCh37	3	52257757	52257757	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000360658.2:c.575C>T	p.Pro192Leu	p.P192L	ENST00000360658	NM_017442.3	192	cCg/cTg	0	validated		probablydamaging	
PTPRS		inserm.fr	GRCh37	19	5225823	5225823	+	synonymous_variant	Silent	SNP	G	A	A			CHC322T																					ENST00000357368.4:c.2409C>T	p.Thr803=	p.T803=	ENST00000357368	NM_002850.3	803	acC/acT	0	validated		synonymous	
DYNAP		inserm.fr	GRCh37	18	52258504	52258504	+	synonymous_variant	Silent	SNP	C	A	A			CHC884T																					ENST00000321600.1:c.69C>A	p.Gly23=	p.G23=	ENST00000321600	NM_173629.1	23	ggC/ggA	0	validated		synonymous	
FPR2		inserm.fr	GRCh37	19	52272013	52272013	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000598776.1:c.102G>A	p.Gly34=	p.G34=	ENST00000598776	NM_001462.3	34	ggG/ggA	0	not done		synonymous	
FPR2		inserm.fr	GRCh37	19	52272838	52272838	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM791T																					ENST00000598776.1:c.927C>A	p.Phe309Leu	p.F309L	ENST00000598776	NM_001462.3	309	ttC/ttA	0	validated		probablydamaging	
GLYCTK		inserm.fr	GRCh37	3	52326948	52326948	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000436784.2:c.1378G>A	p.Ala460Thr	p.A460T	ENST00000436784		460	Gct/Act	0	not done		probablydamaging	
ITGA2		inserm.fr	GRCh37	5	52355728	52355728	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000296585.5:c.1198G>A	p.Gly400Arg	p.G400R	ENST00000296585	NM_002203.3	400	Gga/Aga	0	not done		probablydamaging	
ADAMTS16		inserm.fr	GRCh37	5	5237202	5237202	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000274181.7:c.2144G>A	p.Gly715Glu	p.G715E	ENST00000274181	NM_139056.2	715	gGg/gAg	0	not done		probablydamaging	
DNAH1		inserm.fr	GRCh37	3	52384117	52384117	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000420323.2:c.2639G>A	p.Gly880Asp	p.G880D	ENST00000420323	NM_015512.4	880	gGc/gAc	0	not done		benign	
PXDNL		inserm.fr	GRCh37	8	52384821	52384821	+	synonymous_variant	Silent	SNP	T	A	A			BCM325T																					ENST00000356297.4:c.738A>T	p.Pro246=	p.P246=	ENST00000356297	NM_144651.4	246	ccA/ccT	0	validated		synonymous	
GRASP		inserm.fr	GRCh37	12	52407471	52407471	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			BCM695T									Valid												ENST00000293662.4:c.455G>A	p.Gly152Glu	p.G152E	ENST00000293662	NM_181711.3	152	gGg/gAg	0	validated		probablydamaging	
DNAH1		inserm.fr	GRCh37	3	52416393	52416393	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000420323.2:c.7863G>A	p.Trp2621Ter	p.W2621*	ENST00000420323	NM_015512.4	2621	tgG/tgA	0	not done		damaging	
DNAH1		inserm.fr	GRCh37	3	52418828	52418828	+	synonymous_variant	Silent	SNP	G	A	A			CHC794T																					ENST00000420323.2:c.8349G>A	p.Gln2783=	p.Q2783=	ENST00000420323	NM_015512.4	2783	caG/caA	0	validated		synonymous	
DNAH1		inserm.fr	GRCh37	3	52420705	52420705	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000420323.2:c.8839G>A	p.Gly2947Ser	p.G2947S	ENST00000420323	NM_015512.4	2947	Ggt/Agt	0	not done		probablydamaging	
DNAH1		inserm.fr	GRCh37	3	52428561	52428561	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000420323.2:c.10707G>A	p.Arg3569=	p.R3569=	ENST00000420323	NM_015512.4	3569	cgG/cgA	0	not done		synonymous	
DNAH1		inserm.fr	GRCh37	3	52433561	52433561	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1720T																					ENST00000420323.2:c.12442G>A	p.Val4148Met	p.V4148M	ENST00000420323	NM_015512.4	4148	Gtg/Atg	0	not done		possiblydamaging	
BAP1		inserm.fr	GRCh37	3	52436869	52436869	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1010T																					ENST00000460680.1:c.1909A>T	p.Lys637Ter	p.K637*	ENST00000460680	NM_004656.3	637	Aag/Tag	0	not done		damaging	
BAP1		inserm.fr	GRCh37	3	52436870	52436870	+	synonymous_variant	Silent	SNP	C	A	A			CHC1010T																					ENST00000460680.1:c.1908G>T	p.Leu636=	p.L636=	ENST00000460680	NM_004656.3	636	ctG/ctT	0	not done		synonymous	
TOX3		inserm.fr	GRCh37	16	52473727	52473727	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM321T																					ENST00000219746.9:c.1141A>T	p.Arg381Trp	p.R381W	ENST00000219746	NM_001080430.2	381	Agg/Tgg	0	validated		probablydamaging	
ZNF615		inserm.fr	GRCh37	19	52497246	52497246	+	synonymous_variant	Silent	SNP	T	A	A			CHC2052T																					ENST00000594083.1:c.1116A>T	p.Ala372=	p.A372=	ENST00000594083		372	gcA/gcT	0	not done		synonymous	
ASAH2B		inserm.fr	GRCh37	10	52502770	52502770	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1600T																					ENST00000374006.1:c.86G>A	p.Arg29His	p.R29H	ENST00000374006	NM_001079516.2	29	cGt/cAt	0	validated		possiblydamaging	
NID2		inserm.fr	GRCh37	14	52507557	52507557	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000216286.5:c.1838C>T	p.Thr613Ile	p.T613I	ENST00000216286	NM_007361.3	613	aCc/aTc	0	not done		benign	
NID2		inserm.fr	GRCh37	14	52508914	52508914	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM371T																					ENST00000216286.5:c.1734G>T	p.Gln578His	p.Q578H	ENST00000216286	NM_007361.3	578	caG/caT	0	validated		possiblydamaging	
NID2		inserm.fr	GRCh37	14	52520553	52520553	+	synonymous_variant	Silent	SNP	G	A	A			CHC1741T																					ENST00000216286.5:c.1173C>T	p.Thr391=	p.T391=	ENST00000216286	NM_007361.3	391	acC/acT	0	not done		synonymous	
NID2		inserm.fr	GRCh37	14	52521029	52521029	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000216286.5:c.778C>T	p.Leu260=	p.L260=	ENST00000216286	NM_007361.3	260	Ctg/Ttg	0	not done		synonymous	
ATP7B		inserm.fr	GRCh37	13	52524252	52524252	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000242839.4:c.2621C>T	p.Ala874Val	p.A874V	ENST00000242839	NM_000053.3	874	gCg/gTg	0	validated		probablydamaging	
ATP7B		inserm.fr	GRCh37	13	52524287	52524287	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1531T																					ENST00000242839.4:c.2586G>T	p.Met862Ile	p.M862I	ENST00000242839	NM_000053.3	862	atG/atT	0	not done		probablydamaging	
STAB1		inserm.fr	GRCh37	3	52535712	52535712	+	synonymous_variant	Silent	SNP	C	A	A			CHC912T																					ENST00000321725.6:c.274C>A	p.Arg92=	p.R92=	ENST00000321725	NM_015136.2	92	Cgg/Agg	0	validated		synonymous	
STAB1		inserm.fr	GRCh37	3	52549473	52549473	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000321725.6:c.3899G>A	p.Gly1300Asp	p.G1300D	ENST00000321725	NM_015136.2	1300	gGc/gAc	0	not done		benign	
STAB1		inserm.fr	GRCh37	3	52554939	52554939	+	synonymous_variant	Silent	SNP	G	A	A			CHC1715T																					ENST00000321725.6:c.5826G>A	p.Leu1942=	p.L1942=	ENST00000321725	NM_015136.2	1942	ctG/ctA	0	not done		synonymous	
KRT80		inserm.fr	GRCh37	12	52565463	52565463	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM671T																					ENST00000394815.2:c.1213G>T	p.Val405Leu	p.V405L	ENST00000394815	NM_182507.2	405	Gtg/Ttg	0	validated		benign	
WIPI2		inserm.fr	GRCh37	7	5256786	5256786	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM325T																					ENST00000288828.4:c.544G>A	p.Gly182Arg	p.G182R	ENST00000288828	NM_001278299.1	182	Gga/Aga	0	validated		probablydamaging	
UTP14C		inserm.fr	GRCh37	13	52604729	52604729	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000521776.2:c.1789G>A	p.Ala597Thr	p.A597T	ENST00000521776	NM_021645.5	597	Gct/Act	0	not done		probablydamaging	
ZNF616		inserm.fr	GRCh37	19	52619260	52619260	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM337T																					ENST00000600228.1:c.1157G>T	p.Cys386Phe	p.C386F	ENST00000600228	NM_178523.3	386	tGt/tTt	0	validated		probablydamaging	
BCAS1		inserm.fr	GRCh37	20	52644942	52644942	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000395961.3:c.712C>T	p.Pro238Ser	p.P238S	ENST00000395961	NM_003657.2	238	Cct/Tct	0	not done		benign	
MYO5A		inserm.fr	GRCh37	15	52668690	52668690	+	synonymous_variant	Silent	SNP	T	A	A			CHC433T																					ENST00000399231.3:c.2274A>T	p.Leu758=	p.L758=	ENST00000399231	NM_000259.3	758	ctA/ctT	0	validated		synonymous	
KRT81		inserm.fr	GRCh37	12	52682196	52682196	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000327741.5:c.684C>T	p.Asn228=	p.N228=	ENST00000327741	NM_002281.3	228	aaC/aaT	0	validated		synonymous	
ZFYVE9		inserm.fr	GRCh37	1	52704410	52704410	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000287727.3:c.1321G>A	p.Gly441Arg	p.G441R	ENST00000287727	NM_004799.3	441	Gga/Aga	0	not done		benign	
KRT83		inserm.fr	GRCh37	12	52712972	52712972	+	synonymous_variant	Silent	SNP	G	A	A			CHC218T																					ENST00000293670.3:c.561C>T	p.His187=	p.H187=	ENST00000293670	NM_002282.3	187	caC/caT	0	validated		synonymous	
MYO5A		inserm.fr	GRCh37	15	52718133	52718133	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000399231.3:c.349C>T	p.Pro117Ser	p.P117S	ENST00000399231	NM_000259.3	117	Cct/Tct	0	not done		possiblydamaging	
GNL3		inserm.fr	GRCh37	3	52724628	52724628	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1717T																					ENST00000418458.1:c.562T>A	p.Leu188Met	p.L188M	ENST00000418458	NM_014366.4	188	Ttg/Atg	0	not done		probablydamaging	
GLT8D1		inserm.fr	GRCh37	3	52729312	52729312	+	synonymous_variant	Silent	SNP	T	A	A			CHC2052T																					ENST00000407584.3:c.819A>T	p.Gly273=	p.G273=	ENST00000407584	NM_001278280.1	273	ggA/ggT	0	not done		synonymous	
PCMTD1		inserm.fr	GRCh37	8	52733184	52733184	+	synonymous_variant	Silent	SNP	C	A	A			BCM229T																					ENST00000360540.5:c.801G>T	p.Gly267=	p.G267=	ENST00000360540	NM_052937.3	267	ggG/ggT	0	validated		synonymous	
PTGDR		inserm.fr	GRCh37	14	52734601	52734601	+	synonymous_variant	Silent	SNP	C	A	A			CHC433T																					ENST00000306051.2:c.69C>A	p.Gly23=	p.G23=	ENST00000306051	NM_000953.2	23	ggC/ggA	0	validated		synonymous	
PTGDR		inserm.fr	GRCh37	14	52734935	52734935	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000306051.2:c.403G>A	p.Gly135Arg	p.G135R	ENST00000306051	NM_000953.2	135	Ggg/Agg	0	not done		probablydamaging	
PTGDR		inserm.fr	GRCh37	14	52735174	52735174	+	synonymous_variant	Silent	SNP	C	A	A			CHC1611T																					ENST00000306051.2:c.642C>A	p.Thr214=	p.T214=	ENST00000306051	NM_000953.2	214	acC/acA	0	not done		synonymous	
PRKG1		inserm.fr	GRCh37	10	52751326	52751326	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373985.1:c.152G>A	p.Gly51Asp	p.G51D	ENST00000373985	NM_001098512.2	51	gGc/gAc	0	not done		probablydamaging	
HBG2		inserm.fr	GRCh37	11	5275577	5275577	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000380259.2:c.260C>T	p.Ala87Val	p.A87V	ENST00000380259		87	gCc/gTc	0	not done		benign	
KRT84		inserm.fr	GRCh37	12	52774871	52774871	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC451T																					ENST00000257951.3:c.1196A>T	p.Lys399Met	p.K399M	ENST00000257951	NM_033045.3	399	aAg/aTg	0	validated		probablydamaging	
KRT84		inserm.fr	GRCh37	12	52779243	52779243	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1700T																					ENST00000257951.3:c.127G>T	p.Gly43Ter	p.G43*	ENST00000257951	NM_033045.3	43	Gga/Tga	0	not done		damaging	
KRT82		inserm.fr	GRCh37	12	52790666	52790666	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC884T									Valid												ENST00000257974.2:c.1068+1G>T		p.X356_splice	ENST00000257974	NM_033033.3			0	validated		damaging	
KRT82		inserm.fr	GRCh37	12	52790667	52790667	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC884T									Valid												ENST00000257974.2:c.1068G>T	p.Gln356His	p.Q356H	ENST00000257974	NM_033033.3	356	caG/caT	0	validated		probablydamaging	
NEK4		inserm.fr	GRCh37	3	52794872	52794872	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM483T																					ENST00000233027.5:c.902C>T	p.Ser301Leu	p.S301L	ENST00000233027	NM_001193533.1	301	tCa/tTa	0	validated		benign	
ITIH1		inserm.fr	GRCh37	3	52824814	52824814	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1545T																					ENST00000273283.2:c.2371G>A	p.Asp791Asn	p.D791N	ENST00000273283	NM_002215.3	791	Gac/Aac	0	not done		benign	
ITIH3		inserm.fr	GRCh37	3	52830640	52830640	+	synonymous_variant	Silent	SNP	G	A	A			CHC1763T																					ENST00000449956.2:c.258G>A	p.Thr86=	p.T86=	ENST00000449956	NM_002217.3	86	acG/acA	0	not done		synonymous	
PROKR2		inserm.fr	GRCh37	20	5283294	5283294	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T									Valid												ENST00000546004.1:c.547C>T	p.Leu183Phe	p.L183F	ENST00000546004		183	Ctc/Ttc	0	not done		benign	
ITIH4		inserm.fr	GRCh37	3	52848319	52848319	+	synonymous_variant	Silent	SNP	G	A	A			CHC320T																					ENST00000266041.4:c.2532C>T	p.Thr844=	p.T844=	ENST00000266041	NM_002218.4	844	acC/acT	0	validated		synonymous	
ITIH4		inserm.fr	GRCh37	3	52854701	52854701	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB307T									Valid												ENST00000266041.4:c.1780A>T	p.Thr594Ser	p.T594S	ENST00000266041	NM_002218.4	594	Acc/Tcc	0	validated		probablydamaging	
LRRC66		inserm.fr	GRCh37	4	52861113	52861113	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000343457.3:c.2075C>T	p.Pro692Leu	p.P692L	ENST00000343457	NM_001024611.1	692	cCt/cTt	0	not done		benign	
ICK		inserm.fr	GRCh37	6	52902792	52902792	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			BCB325T									Valid												ENST00000356971.3:c.102-1G>T		p.X34_splice	ENST00000356971	NM_016513.4			0	validated		damaging	
KRT5		inserm.fr	GRCh37	12	52910610	52910610	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000252242.4:c.1250C>T	p.Ala417Val	p.A417V	ENST00000252242	NM_000424.3	417	gCc/gTc	0	not done		probablydamaging	
ZNF528		inserm.fr	GRCh37	19	52918418	52918418	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC469T																					ENST00000360465.3:c.313T>A	p.Cys105Ser	p.C105S	ENST00000360465	NM_032423.2	105	Tgt/Agt	0	validated		benign	
ZCCHC11		inserm.fr	GRCh37	1	52956463	52956463	+	synonymous_variant	Silent	SNP	T	A	A			CHC322T																					ENST00000257177.4:c.1329A>T	p.Val443=	p.V443=	ENST00000257177		443	gtA/gtT	0	validated		synonymous	
KRT72		inserm.fr	GRCh37	12	52995228	52995228	+	synonymous_variant	Silent	SNP	G	A	A			CHC796T																					ENST00000293745.2:c.9C>T	p.Arg3=	p.R3=	ENST00000293745	NM_080747.2	3	cgC/cgT	0	validated		synonymous	
ZNF578		inserm.fr	GRCh37	19	53015321	53015321	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2358T																					ENST00000421239.2:c.1687G>A	p.Gly563Arg	p.G563R	ENST00000421239	NM_001099694.1	563	Gga/Aga	0	validated		probablydamaging	
ST18		inserm.fr	GRCh37	8	53038654	53038654	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1568T																					ENST00000276480.7:c.2713G>T	p.Val905Phe	p.V905F	ENST00000276480	NM_014682.2	905	Gtt/Ttt	0	not done		possiblydamaging	
ST18		inserm.fr	GRCh37	8	53044522	53044522	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM723T																					ENST00000276480.7:c.2662C>T	p.Arg888Ter	p.R888*	ENST00000276480	NM_014682.2	888	Cga/Tga	0	validated		damaging	
KRT2		inserm.fr	GRCh37	12	53045392	53045392	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM321T																					ENST00000309680.3:c.535C>T	p.Arg179Cys	p.R179C	ENST00000309680	NM_000423.2	179	Cgt/Tgt	0	validated		probablydamaging	
CKAP2		inserm.fr	GRCh37	13	53047995	53047995	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000378037.5:c.1581G>A	p.Lys527=	p.K527=	ENST00000378037	NM_018204.3	527	aaG/aaA	0	not done		synonymous	
POM121L12		inserm.fr	GRCh37	7	53103621	53103621	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000408890.4:c.257C>A	p.Pro86His	p.P86H	ENST00000408890	NM_182595.3	86	cCc/cAc	0	not done		probablydamaging	
POM121L12		inserm.fr	GRCh37	7	53103649	53103649	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000408890.4:c.285G>A	p.Glu95=	p.E95=	ENST00000408890	NM_182595.3	95	gaG/gaA	0	not done		synonymous	
POM121L12		inserm.fr	GRCh37	7	53103664	53103664	+	synonymous_variant	Silent	SNP	T	A	A			CHC314T																					ENST00000408890.4:c.300T>A	p.Pro100=	p.P100=	ENST00000408890	NM_182595.3	100	ccT/ccA	0	validated		synonymous	
POM121L12		inserm.fr	GRCh37	7	53103986	53103986	+	synonymous_variant	Silent	SNP	C	A	A			CHC2127T																					ENST00000408890.4:c.622C>A	p.Arg208=	p.R208=	ENST00000408890	NM_182595.3	208	Cgg/Agg	0	not done		synonymous	
POM121L12		inserm.fr	GRCh37	7	53104026	53104026	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM339T																					ENST00000408890.4:c.662G>A	p.Ser221Asn	p.S221N	ENST00000408890	NM_182595.3	221	aGc/aAc	0	validated		possiblydamaging	
GPR173		inserm.fr	GRCh37	X	53106504	53106504	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000332582.4:c.701G>A	p.Gly234Asp	p.G234D	ENST00000332582	NM_018969.5	234	gGt/gAt	0	not done		probablydamaging	
TSPYL2		inserm.fr	GRCh37	X	53114425	53114425	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1591T																					ENST00000375442.4:c.1160T>A	p.Leu387Gln	p.L387Q	ENST00000375442	NM_022117.3	387	cTg/cAg	0	not done		probablydamaging	
TSPYL2		inserm.fr	GRCh37	X	53115221	53115221	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000375442.4:c.1647G>A	p.Trp549Ter	p.W549*	ENST00000375442	NM_022117.3	549	tgG/tgA	0	not done		damaging	
RFT1		inserm.fr	GRCh37	3	53156482	53156482	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1594T																					ENST00000296292.3:c.364G>T	p.Gly122Ter	p.G122*	ENST00000296292	NM_052859.3	122	Gga/Tga	0	not done		damaging	
KRT4		inserm.fr	GRCh37	12	53202511	53202511	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1083T																					ENST00000551956.1:c.958C>T	p.Gln320Ter	p.Q320*	ENST00000551956		320	Cag/Tag	0	validated		damaging	
KRT4		inserm.fr	GRCh37	12	53207522	53207522	+	synonymous_variant	Silent	SNP	C	A	A			BCB167T																					ENST00000551956.1:c.321G>T	p.Gly107=	p.G107=	ENST00000551956		107	ggG/ggT	0	validated		synonymous	
KRT4		inserm.fr	GRCh37	12	53207690	53207690	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000551956.1:c.153C>T	p.Ser51=	p.S51=	ENST00000551956		51	agC/agT	0	not done		synonymous	
PRKCD		inserm.fr	GRCh37	3	53213751	53213751	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000394729.2:c.274G>A	p.Ala92Thr	p.A92T	ENST00000394729	NM_212539.1	92	Gcc/Acc	0	not done		probablydamaging	
ZNF611		inserm.fr	GRCh37	19	53219108	53219108	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000543227.1:c.40G>T	p.Glu14Ter	p.E14*	ENST00000543227	NM_001161499.1	14	Gag/Tag	0	not done		damaging	
ZNF611		inserm.fr	GRCh37	19	53219109	53219109	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000543227.1:c.39G>T	p.Lys13Asn	p.K13N	ENST00000543227	NM_001161499.1	13	aaG/aaT	0	not done		probablydamaging	
OR51B4		inserm.fr	GRCh37	11	5322712	5322712	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000380224.1:c.465C>T	p.Pro155=	p.P155=	ENST00000380224	NM_033179.2	155	ccC/ccT	0	not done		synonymous	
KRT79		inserm.fr	GRCh37	12	53227675	53227675	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000330553.5:c.370C>T	p.Leu124=	p.L124=	ENST00000330553	NM_175834.2	124	Ctg/Ttg	0	not done		synonymous	
IQSEC2		inserm.fr	GRCh37	X	53264217	53264217	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000396435.3:c.3651C>T	p.Pro1217=	p.P1217=	ENST00000396435	NM_001111125.2	1217	ccC/ccT	0	not done		synonymous	
ZNF600		inserm.fr	GRCh37	19	53270313	53270313	+	synonymous_variant	Silent	SNP	G	A	A			CHC703T																					ENST00000338230.3:c.696C>T	p.Ser232=	p.S232=	ENST00000338230	NM_198457.2	232	tcC/tcT	0	not done		synonymous	
IQSEC2		inserm.fr	GRCh37	X	53277370	53277370	+	synonymous_variant	Silent	SNP	C	A	A			CHC1725T																					ENST00000396435.3:c.2508G>T	p.Ala836=	p.A836=	ENST00000396435	NM_001111125.2	836	gcG/gcT	0	not done		synonymous	
KRT8		inserm.fr	GRCh37	12	53292558	53292558	+	synonymous_variant	Silent	SNP	C	A	A			CHC469T																					ENST00000552150.1:c.1191G>T	p.Arg397=	p.R397=	ENST00000552150	NM_001256282.1	397	cgG/cgT	0	validated		synonymous	
ZYG11A		inserm.fr	GRCh37	1	53323030	53323030	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371528.1:c.617G>A	p.Arg206Lys	p.R206K	ENST00000371528	NM_001004339.2	206	aGa/aAa	0	not done		benign	
ZNF468		inserm.fr	GRCh37	19	53345274	53345274	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1741T																					ENST00000595646.1:c.273G>T	p.Glu91Asp	p.E91D	ENST00000595646		91	gaG/gaT	0	not done		benign	
CHD9		inserm.fr	GRCh37	16	53358003	53358003	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000566029.1:c.7842G>A	p.Arg2614=	p.R2614=	ENST00000566029		2614	cgG/cgA	0	not done		synonymous	
PCDH8		inserm.fr	GRCh37	13	53422431	53422431	+	synonymous_variant	Silent	SNP	C	A	A			CHC798T																					ENST00000377942.3:c.141G>T	p.Gly47=	p.G47=	ENST00000377942	NM_002590.3	47	ggG/ggT	0	validated		synonymous	
EIF4B		inserm.fr	GRCh37	12	53427803	53427803	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000262056.9:c.1193G>A	p.Arg398Gln	p.R398Q	ENST00000262056	NM_001417.4	398	cGa/cAa	0	validated		probablydamaging	
RIBC1		inserm.fr	GRCh37	X	53457363	53457363	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC434T																					ENST00000375327.3:c.683G>A	p.Arg228His	p.R228H	ENST00000375327	NM_001031745.3	228	cGt/cAt	0	validated		benign	
SPRYD3		inserm.fr	GRCh37	12	53460215	53460215	+	synonymous_variant	Silent	SNP	G	A	A			BCM337T																					ENST00000301463.4:c.1077C>T	p.Val359=	p.V359=	ENST00000301463	NM_032840.2	359	gtC/gtT	0	validated		synonymous	
RBL2		inserm.fr	GRCh37	16	53468655	53468655	+	synonymous_variant	Silent	SNP	C	A	A			CHC1545T																					ENST00000262133.6:c.187C>A	p.Arg63=	p.R63=	ENST00000262133	NM_005611.3	63	Cgg/Agg	0	validated		synonymous	
USP46		inserm.fr	GRCh37	4	53494286	53494286	+	synonymous_variant	Silent	SNP	G	A	A			BCM439T																					ENST00000441222.3:c.162C>T	p.Tyr54=	p.Y54=	ENST00000441222	NM_022832.3	54	taC/taT	0	validated		synonymous	
RBL2		inserm.fr	GRCh37	16	53499514	53499514	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000262133.6:c.1863G>A	p.Glu621=	p.E621=	ENST00000262133	NM_005611.3	621	gaG/gaA	0	not done		damaging	
SCP2		inserm.fr	GRCh37	1	53513578	53513578	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1750T																					ENST00000371514.3:c.1517C>A	p.Ala506Asp	p.A506D	ENST00000371514	NM_002979.4	506	gCt/gAt	0	not done		benign	
PODN		inserm.fr	GRCh37	1	53527904	53527904	+	synonymous_variant	Silent	SNP	C	A	A			CHC197T																					ENST00000312553.5:c.13C>A	p.Arg5=	p.R5=	ENST00000312553	NM_001199081.1	5	Cga/Aga	0	validated		synonymous	
DHX33		inserm.fr	GRCh37	17	5353579	5353579	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM399T									Valid												ENST00000225296.3:c.1672G>T	p.Asp558Tyr	p.D558Y	ENST00000225296	NM_001199699.1	558	Gat/Tat	0	validated		probablydamaging	
PODN		inserm.fr	GRCh37	1	53544547	53544547	+	synonymous_variant	Silent	SNP	G	A	A			CHC1712T																					ENST00000312553.5:c.1509G>A	p.Val503=	p.V503=	ENST00000312553	NM_001199081.1	503	gtG/gtA	0	not done		synonymous	
HUWE1		inserm.fr	GRCh37	X	53561015	53561015	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000342160.3:c.12975C>T	p.Ile4325=	p.I4325=	ENST00000342160		4325	atC/atT	0	not done		synonymous	
HUWE1		inserm.fr	GRCh37	X	53572006	53572006	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1745T																					ENST00000342160.3:c.11032G>T	p.Gly3678Cys	p.G3678C	ENST00000342160		3678	Ggc/Tgc	0	not done		probablydamaging	
HUWE1		inserm.fr	GRCh37	X	53576299	53576299	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000342160.3:c.9656G>T	p.Arg3219Leu	p.R3219L	ENST00000342160		3219	cGc/cTc	0	not done		probablydamaging	
HUWE1		inserm.fr	GRCh37	X	53595827	53595827	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB307T									Valid												ENST00000342160.3:c.6532G>T	p.Ala2178Ser	p.A2178S	ENST00000342160		2178	Gca/Tca	0	validated		probablydamaging	
RARG		inserm.fr	GRCh37	12	53607383	53607383	+	synonymous_variant	Silent	SNP	C	A	A			CHC1754T																					ENST00000425354.2:c.915G>T	p.Gly305=	p.G305=	ENST00000425354	NM_000966.5	305	ggG/ggT	0	not done		synonymous	
RARG		inserm.fr	GRCh37	12	53607922	53607922	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000425354.2:c.734C>T	p.Ala245Val	p.A245V	ENST00000425354	NM_000966.5	245	gCc/gTc	0	not done		probablydamaging	
HUWE1		inserm.fr	GRCh37	X	53622235	53622235	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000342160.3:c.3292G>T	p.Ala1098Ser	p.A1098S	ENST00000342160		1098	Gcg/Tcg	0	not done		probablydamaging	
OLFM4		inserm.fr	GRCh37	13	53624288	53624288	+	synonymous_variant	Silent	SNP	G	A	A			CHC1629T																					ENST00000219022.2:c.915G>A	p.Leu305=	p.L305=	ENST00000219022	NM_006418.4	305	ctG/ctA	0	not done		synonymous	
ESPL1		inserm.fr	GRCh37	12	53663468	53663468	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000257934.4:c.742G>A	p.Ala248Thr	p.A248T	ENST00000257934	NM_012291.4	248	Gcc/Acc	0	not done		possiblydamaging	
ZNF665		inserm.fr	GRCh37	19	53668314	53668314	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000396424.3:c.1429C>T	p.Arg477Trp	p.R477W	ENST00000396424	NM_024733.3	477	Cgg/Tgg	0	not done		probablydamaging	
ESPL1		inserm.fr	GRCh37	12	53677285	53677285	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000257934.4:c.3040G>A	p.Ala1014Thr	p.A1014T	ENST00000257934	NM_012291.4	1014	Gcc/Acc	0	not done		probablydamaging	
ESPL1		inserm.fr	GRCh37	12	53680538	53680538	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2127T																					ENST00000257934.4:c.4018G>A	p.Gly1340Ser	p.G1340S	ENST00000257934	NM_012291.4	1340	Ggt/Agt	0	not done		benign	
C1orf123		inserm.fr	GRCh37	1	53685960	53685960	+	synonymous_variant	Silent	SNP	C	A	A			BCM375T																					ENST00000294360.4:c.63G>T	p.Val21=	p.V21=	ENST00000294360	NM_017887.1	21	gtG/gtT	0	validated		synonymous	
AAAS		inserm.fr	GRCh37	12	53708625	53708625	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC805T																					ENST00000209873.4:c.455G>T	p.Cys152Phe	p.C152F	ENST00000209873	NM_015665.5	152	tGc/tTc	0	not done		probablydamaging	
RPGRIP1L		inserm.fr	GRCh37	16	53720482	53720482	+	synonymous_variant	Silent	SNP	G	A	A			BCB151T																					ENST00000379925.3:c.639C>T	p.Asn213=	p.N213=	ENST00000379925	NM_015272.2	213	aaC/aaT	0	validated		synonymous	
SP7		inserm.fr	GRCh37	12	53723179	53723179	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000536324.2:c.47C>T	p.Pro16Leu	p.P16L	ENST00000536324	NM_001173467.1	16	cCc/cTc	0	not done		probablydamaging	
ZNF677		inserm.fr	GRCh37	19	53740879	53740879	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1207T																					ENST00000333952.4:c.1101A>T	p.Arg367Ser	p.R367S	ENST00000333952		367	agA/agT	0	not done		probablydamaging	
LRP8		inserm.fr	GRCh37	1	53742517	53742517	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000306052.6:c.730C>T	p.Leu244Phe	p.L244F	ENST00000306052	NM_004631.4	244	Ctc/Ttc	0	not done		benign	
HSPB3		inserm.fr	GRCh37	5	53751847	53751847	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM783T																					ENST00000302005.1:c.228C>A	p.Asp76Glu	p.D76E	ENST00000302005	NM_006308.2	76	gaC/gaA	0	validated		probablydamaging	
VN1R4		inserm.fr	GRCh37	19	53770594	53770594	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM325T									Valid												ENST00000311170.4:c.325G>T	p.Val109Phe	p.V109F	ENST00000311170	NM_173857.2	109	Gtc/Ttc	0	validated		possiblydamaging	
SP1		inserm.fr	GRCh37	12	53803146	53803146	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000327443.4:c.1845G>A	p.Arg615=	p.R615=	ENST00000327443	NM_138473.2	615	agG/agA	0	not done		damaging	
CACNA1D		inserm.fr	GRCh37	3	53809998	53809998	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC303T																					ENST00000288139.4:c.4348G>A	p.Gly1450Arg	p.G1450R	ENST00000288139	NM_000720.3	1450	Ggg/Agg	0	validated		probablydamaging	
SNX18		inserm.fr	GRCh37	5	53814691	53814691	+	synonymous_variant	Silent	SNP	G	A	A			CHC429T																					ENST00000326277.3:c.909G>A	p.Thr303=	p.T303=	ENST00000326277	NM_052870.2	303	acG/acA	0	validated		synonymous	
AMHR2		inserm.fr	GRCh37	12	53823677	53823677	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000257863.4:c.1203G>A	p.Trp401Ter	p.W401*	ENST00000257863	NM_001164690.1	401	tgG/tgA	0	not done		damaging	
CHDH		inserm.fr	GRCh37	3	53857419	53857419	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1182T																					ENST00000315251.6:c.617C>T	p.Thr206Met	p.T206M	ENST00000315251	NM_018397.4	206	aCg/aTg	0	not done		probablydamaging	
DERL2		inserm.fr	GRCh37	17	5389457	5389457	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM567T									Valid												ENST00000158771.4:c.25G>T	p.Glu9Ter	p.E9*	ENST00000158771	NM_016041.3	9	Gag/Tag	0	validated		damaging	
DMRTB1		inserm.fr	GRCh37	1	53927178	53927178	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC303T																					ENST00000371445.3:c.610C>A	p.Leu204Met	p.L204M	ENST00000371445	NM_033067.1	204	Ctg/Atg	0	validated		benign	
ASB3		inserm.fr	GRCh37	2	53943752	53943752	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1055T																					ENST00000352846.3:c.847G>T	p.Asp283Tyr	p.D283Y	ENST00000352846	NM_001164165.1	283	Gac/Tac	0	validated		benign	
EPB41L3		inserm.fr	GRCh37	18	5395658	5395658	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1754T																					ENST00000341928.2:c.3022A>T	p.Thr1008Ser	p.T1008S	ENST00000341928	NM_012307.3	1008	Acg/Tcg	0	not done		probablydamaging	
ZNF761		inserm.fr	GRCh37	19	53959428	53959428	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000454407.1:n.2120G>A		*707*	ENST00000454407				0	not done		benign	
PHF8		inserm.fr	GRCh37	X	53966884	53966884	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2206T																					ENST00000357988.5:c.2823G>T	p.Gln941His	p.Q941H	ENST00000357988	NM_001184896.1	941	caG/caT	0	validated		possiblydamaging	
EPB41L3		inserm.fr	GRCh37	18	5397140	5397140	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2052T																					ENST00000341928.2:c.2758G>T	p.Ala920Ser	p.A920S	ENST00000341928	NM_012307.3	920	Gcc/Tcc	0	not done		benign	
ZNF813		inserm.fr	GRCh37	19	53994951	53994951	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000396403.4:c.1465C>A	p.His489Asn	p.H489N	ENST00000396403	NM_001004301.3	489	Cat/Aat	0	not done		probablydamaging	
GLIS1		inserm.fr	GRCh37	1	53995611	53995611	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000312233.2:c.810C>T	p.Ser270=	p.S270=	ENST00000312233	NM_147193.2	270	agC/agT	0	not done		synonymous	
PRKG1		inserm.fr	GRCh37	10	54032171	54032171	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC361TA									Valid												ENST00000373980.4:c.1333G>A	p.Asp445Asn	p.D445N	ENST00000373980	NM_006258.3	445	Gac/Aac	0	validated		probablydamaging	
ATP5G2		inserm.fr	GRCh37	12	54059155	54059155	+	synonymous_variant	Silent	SNP	C	A	A			CHC433T																					ENST00000394349.3:c.540G>T	p.Ser180=	p.S180=	ENST00000394349	NM_005176.5	180	tcG/tcT	0	validated		synonymous	
ZNF331		inserm.fr	GRCh37	19	54074965	54074965	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM723T																					ENST00000253144.9:c.117C>A	p.Tyr39Ter	p.Y39*	ENST00000253144	NM_018555.5	39	taC/taA	0	validated		damaging	
GPR75		inserm.fr	GRCh37	2	54081741	54081741	+	synonymous_variant	Silent	SNP	G	A	A			BCB157T																					ENST00000394705.2:c.153C>T	p.Val51=	p.V51=	ENST00000394705	NM_006794.3	51	gtC/gtT	0	validated		synonymous	
PSME4		inserm.fr	GRCh37	2	54122755	54122755	+	synonymous_variant	Silent	SNP	C	A	A			BCB307T																					ENST00000404125.1:c.3807G>T	p.Val1269=	p.V1269=	ENST00000404125	NM_014614.2	1269	gtG/gtT	0	validated		synonymous	
OPRK1		inserm.fr	GRCh37	8	54142018	54142018	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM439T																					ENST00000265572.3:c.982A>T	p.Ile328Phe	p.I328F	ENST00000265572	NM_000912.3	328	Att/Ttt	0	validated		benign	
OPRK1		inserm.fr	GRCh37	8	54142117	54142117	+	synonymous_variant	Silent	SNP	G	A	A			CHC2103T																					ENST00000265572.3:c.883C>T	p.Leu295=	p.L295=	ENST00000265572	NM_000912.3	295	Ctg/Ttg	0	not done		synonymous	
OPRK1		inserm.fr	GRCh37	8	54142235	54142235	+	synonymous_variant	Silent	SNP	G	A	A			CHC1211T																					ENST00000265572.3:c.765C>T	p.Ser255=	p.S255=	ENST00000265572	NM_000912.3	255	agC/agT	0	not done		synonymous	
CDC34		inserm.fr	GRCh37	19	541549	541549	+	synonymous_variant	Silent	SNP	C	A	A			CHC898T																					ENST00000215574.4:c.708C>A	p.Ser236=	p.S236=	ENST00000215574	NM_004359.1	236	tcC/tcA	0	not done		synonymous	
CACNA2D3		inserm.fr	GRCh37	3	54157553	54157553	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000474759.1:c.136G>A	p.Ala46Thr	p.A46T	ENST00000474759	NM_018398.2	46	Gcc/Acc	0	not done		probablydamaging	
EPB41L3		inserm.fr	GRCh37	18	5416303	5416303	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC734T																					ENST00000341928.2:c.1581G>T	p.Glu527Asp	p.E527D	ENST00000341928	NM_012307.3	527	gaG/gaT	0	not done		benign	
EPB41L3		inserm.fr	GRCh37	18	5416361	5416361	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1734T																					ENST00000341928.2:c.1523C>T	p.Thr508Ile	p.T508I	ENST00000341928	NM_012307.3	508	aCt/aTt	0	validated		benign	
FAM120C		inserm.fr	GRCh37	X	54209416	54209416	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM265T																					ENST00000375180.2:c.216G>T	p.Leu72Phe	p.L72F	ENST00000375180	NM_017848.4	72	ttG/ttT	0	validated		benign	
FAM120C		inserm.fr	GRCh37	X	54209463	54209463	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2211T																					ENST00000375180.2:c.169G>T	p.Ala57Ser	p.A57S	ENST00000375180	NM_017848.4	57	Gcc/Tcc	0	validated		benign	
TNRC18		inserm.fr	GRCh37	7	5427759	5427759	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB231T																					ENST00000430969.1:c.1696G>T	p.Gly566Cys	p.G566C	ENST00000430969	NM_001080495.2	566	Ggc/Tgc	0	validated		possiblydamaging	
UNC13C		inserm.fr	GRCh37	15	54305507	54305507	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC306T																					ENST00000260323.11:c.407G>A	p.Ser136Asn	p.S136N	ENST00000260323	NM_001080534.1	136	aGt/aAt	0	validated		benign	
UNC13C		inserm.fr	GRCh37	15	54306214	54306214	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2208T																					ENST00000260323.11:c.1114G>A	p.Ala372Thr	p.A372T	ENST00000260323	NM_001080534.1	372	Gca/Aca	0	not done		possiblydamaging	
UNC13C		inserm.fr	GRCh37	15	54307123	54307123	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000260323.11:c.2023G>A	p.Gly675Ser	p.G675S	ENST00000260323	NM_001080534.1	675	Ggt/Agt	0	not done		benign	
NLRP12		inserm.fr	GRCh37	19	54310895	54310895	+	synonymous_variant	Silent	SNP	G	A	A			CHC1746T																					ENST00000324134.6:c.2097C>T	p.Asp699=	p.D699=	ENST00000324134	NM_144687.3	699	gaC/gaT	0	not done		synonymous	
NLRP12		inserm.fr	GRCh37	19	54312893	54312893	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T									Valid												ENST00000324134.6:c.2020G>T	p.Gly674Trp	p.G674W	ENST00000324134	NM_144687.3	674	Ggg/Tgg	0	validated		probablydamaging	
NLRP12		inserm.fr	GRCh37	19	54312898	54312898	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM695T																					ENST00000324134.6:c.2015C>T	p.Ala672Val	p.A672V	ENST00000324134	NM_144687.3	672	gCg/gTg	0	validated		benign	
NLRP12		inserm.fr	GRCh37	19	54313519	54313519	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2208T																					ENST00000324134.6:c.1394C>T	p.Ala465Val	p.A465V	ENST00000324134	NM_144687.3	465	gCg/gTg	0	not done		probablydamaging	
EPB41L3		inserm.fr	GRCh37	18	5433542	5433542	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000341928.2:c.838G>T	p.Ala280Ser	p.A280S	ENST00000341928	NM_012307.3	280	Gca/Tca	0	not done		possiblydamaging	
LNX1		inserm.fr	GRCh37	4	54347997	54347997	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC961T									Valid												ENST00000263925.7:c.1375G>T	p.Val459Phe	p.V459F	ENST00000263925	NM_001126328.2	459	Gtc/Ttc	0	validated		possiblydamaging	
HOXC12		inserm.fr	GRCh37	12	54348881	54348881	+	synonymous_variant	Silent	SNP	G	A	A			BCM695T																					ENST00000243103.3:c.168G>A	p.Pro56=	p.P56=	ENST00000243103	NM_173860.1	56	ccG/ccA	0	validated		synonymous	
TUBAL3		inserm.fr	GRCh37	10	5436227	5436227	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000380419.3:c.594C>T	p.Thr198=	p.T198=	ENST00000380419	NM_024803.2	198	acC/acT	0	not done		synonymous	
TUBAL3		inserm.fr	GRCh37	10	5436228	5436228	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000380419.3:c.593C>T	p.Thr198Ile	p.T198I	ENST00000380419	NM_024803.2	198	aCc/aTc	0	not done		probablydamaging	
WDR7		inserm.fr	GRCh37	18	54363643	54363643	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM711T																					ENST00000254442.3:c.1528G>A	p.Val510Ile	p.V510I	ENST00000254442	NM_015285.2	510	Gtt/Att	0	validated		probablydamaging	
HOXC10		inserm.fr	GRCh37	12	54379101	54379101	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1751T																					ENST00000303460.4:c.58G>A	p.Gly20Ser	p.G20S	ENST00000303460	NM_017409.3	20	Ggc/Agc	0	not done		benign	
PRKCG		inserm.fr	GRCh37	19	54386424	54386424	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2141T																					ENST00000263431.3:c.178G>A	p.Gly60Arg	p.G60R	ENST00000263431	NM_002739.3	60	Gga/Aga	0	not done		probablydamaging	
HOXC9		inserm.fr	GRCh37	12	54394094	54394094	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC314T									Valid												ENST00000303450.4:c.122G>A	p.Ser41Asn	p.S41N	ENST00000303450	NM_006897.1	41	aGc/aAc	0	validated		possiblydamaging	
PRKCG		inserm.fr	GRCh37	19	54403951	54403951	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM735T																					ENST00000263431.3:c.1523C>A	p.Pro508His	p.P508H	ENST00000263431	NM_002739.3	508	cCc/cAc	0	validated		benign	
CDC20B		inserm.fr	GRCh37	5	54415701	54415701	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000381375.2:c.1387G>T	p.Gly463Cys	p.G463C	ENST00000381375		463	Ggt/Tgt	0	not done		probablydamaging	
CACNG7		inserm.fr	GRCh37	19	54416164	54416164	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2216T																					ENST00000391767.1:c.79G>A	p.Ala27Thr	p.A27T	ENST00000391767		27	Gcg/Acg	0	not done		probablydamaging	
HOXC6		inserm.fr	GRCh37	12	54422692	54422692	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1053T																					ENST00000243108.4:c.387G>A	p.Met129Ile	p.M129I	ENST00000243108	NM_004503.3	129	atG/atA	0	validated		probablydamaging	
WDR7		inserm.fr	GRCh37	18	54424443	54424443	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000254442.3:c.2619G>A	p.Glu873=	p.E873=	ENST00000254442	NM_015285.2	873	gaG/gaA	0	not done		synonymous	
CACNG7		inserm.fr	GRCh37	19	54444737	54444737	+	synonymous_variant	Silent	SNP	G	A	A			BCM671T																					ENST00000391767.1:c.438G>A	p.Val146=	p.V146=	ENST00000391767		146	gtG/gtA	0	validated		synonymous	
CACNG7		inserm.fr	GRCh37	19	54444773	54444773	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000391767.1:c.474C>A	p.Asp158Glu	p.D158E	ENST00000391767		158	gaC/gaA	0	not done		probablydamaging	
NLRP1		inserm.fr	GRCh37	17	5445263	5445263	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000572272.1:c.2613C>T	p.Asp871=	p.D871=	ENST00000572272		871	gaC/gaT	0	not done		synonymous	
CACNG8		inserm.fr	GRCh37	19	54483139	54483139	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM371T																					ENST00000270458.2:c.386G>A	p.Ser129Asn	p.S129N	ENST00000270458	NM_031895.5	129	aGc/aAc	0	validated		benign	
STK32B		inserm.fr	GRCh37	4	5448433	5448433	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000282908.5:c.596G>A	p.Gly199Asp	p.G199D	ENST00000282908	NM_018401.1	199	gGc/gAc	0	not done		benign	
CACNG8		inserm.fr	GRCh37	19	54485377	54485377	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1744T																					ENST00000270458.2:c.552C>A	p.Asn184Lys	p.N184K	ENST00000270458	NM_031895.5	184	aaC/aaA	0	not done		probablydamaging	
FGD1		inserm.fr	GRCh37	X	54497810	54497810	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2111T																					ENST00000375135.3:c.418C>T	p.Pro140Ser	p.P140S	ENST00000375135	NM_004463.2	140	Ccg/Tcg	0	not done		benign	
TMEM59		inserm.fr	GRCh37	1	54512978	54512978	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1749T																					ENST00000234831.5:c.257G>T	p.Gly86Val	p.G86V	ENST00000234831	NM_004872.3	86	gGa/gTa	0	not done		possiblydamaging	
TMEM59		inserm.fr	GRCh37	1	54512979	54512979	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1749T																					ENST00000234831.5:c.256G>T	p.Gly86Ter	p.G86*	ENST00000234831	NM_004872.3	86	Gga/Tga	0	not done		damaging	
CACNG6		inserm.fr	GRCh37	19	54515282	54515282	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T																					ENST00000252729.2:c.622C>A	p.Pro208Thr	p.P208T	ENST00000252729	NM_145814.1	208	Ccc/Acc	0	validated		possiblydamaging	
UNC13C		inserm.fr	GRCh37	15	54556565	54556565	+	synonymous_variant	Silent	SNP	T	A	A			CHC1592T																					ENST00000260323.11:c.3648T>A	p.Ser1216=	p.S1216=	ENST00000260323	NM_001080534.1	1216	tcT/tcA	0	not done		synonymous	
DHX29		inserm.fr	GRCh37	5	54557249	54557249	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000251636.5:c.3907G>T	p.Glu1303Ter	p.E1303*	ENST00000251636	NM_019030.2	1303	Gaa/Taa	0	not done		damaging	
ZNRF4		inserm.fr	GRCh37	19	5455771	5455771	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1085T																					ENST00000222033.4:c.269C>A	p.Ser90Ter	p.S90*	ENST00000222033	NM_181710.3	90	tCg/tAg	0	validated		damaging	
GNL3L		inserm.fr	GRCh37	X	54574697	54574697	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000336470.4:c.666G>A	p.Glu222=	p.E222=	ENST00000336470	NM_019067.5	222	gaG/gaA	0	not done		synonymous	
SMUG1		inserm.fr	GRCh37	12	54576329	54576329	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC703T																					ENST00000508394.2:c.364C>T	p.Pro122Ser	p.P122S	ENST00000508394	NM_001243788.1	122	Cct/Tct	0	validated		probablydamaging	
TARM1		inserm.fr	GRCh37	19	54578283	54578283	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000432826.1:c.154C>T	p.Pro52Ser	p.P52S	ENST00000432826	NM_001135686.1	52	Cct/Tct	0	not done		possiblydamaging	
DHX29		inserm.fr	GRCh37	5	54585216	54585216	+	synonymous_variant	Silent	SNP	G	A	A			CHC1531T																					ENST00000251636.5:c.948C>T	p.Ala316=	p.A316=	ENST00000251636	NM_019030.2	316	gcC/gcT	0	not done		synonymous	
OSCAR		inserm.fr	GRCh37	19	54598494	54598494	+	3_prime_UTR_variant	3'UTR	SNP	G	A	A			CHC1079T																					ENST00000359649.4:c.*449C>T		*150*	ENST00000359649	NM_206818.1			0	not done			
OSCAR		inserm.fr	GRCh37	19	54600424	54600424	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC469T									Valid												ENST00000359649.4:c.110C>T	p.Pro37Leu	p.P37L	ENST00000359649	NM_206818.1	37	cCa/cTa	0	validated		probablydamaging	
CDCP2		inserm.fr	GRCh37	1	54606805	54606805	+	synonymous_variant	Silent	SNP	G	A	A			CHC1731T																					ENST00000371330.1:c.729C>T	p.Ile243=	p.I243=	ENST00000371330	NM_201546.3	243	atC/atT	0	not done		synonymous	
VSTM2A		inserm.fr	GRCh37	7	54617834	54617834	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000407838.3:c.605C>A	p.Ala202Asp	p.A202D	ENST00000407838	NM_182546.2	202	gCc/gAc	0	not done		probablydamaging	
STK32B		inserm.fr	GRCh37	4	5461901	5461901	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM483T																					ENST00000282908.5:c.855C>A	p.Asp285Glu	p.D285E	ENST00000282908	NM_018401.1	285	gaC/gaA	0	validated		benign	
NLRP1		inserm.fr	GRCh37	17	5463305	5463305	+	synonymous_variant	Silent	SNP	C	A	A			CHC051T																					ENST00000572272.1:c.711G>T	p.Val237=	p.V237=	ENST00000572272		237	gtG/gtT	0	validated		synonymous	
KIAA0947		inserm.fr	GRCh37	5	5464096	5464096	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000296564.7:c.4649G>A	p.Gly1550Asp	p.G1550D	ENST00000296564	NM_015325.2	1550	gGc/gAc	0	validated		benign	
KIAA0947		inserm.fr	GRCh37	5	5464549	5464549	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2099T																					ENST00000296564.7:c.5102C>A	p.Ser1701Tyr	p.S1701Y	ENST00000296564	NM_015325.2	1701	tCt/tAt	0	not done		probablydamaging	
CNOT3		inserm.fr	GRCh37	19	54647405	54647405	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM265T									Valid												ENST00000406403.1:c.178G>A	p.Asp60Asn	p.D60N	ENST00000406403		60	Gac/Aac	0	validated		probablydamaging	
NOG		inserm.fr	GRCh37	17	54671823	54671823	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC155T																					ENST00000332822.4:c.239C>A	p.Ala80Asp	p.A80D	ENST00000332822	NM_005450.4	80	gCc/gAc	0	validated		possiblydamaging	
MRPL37		inserm.fr	GRCh37	1	54678271	54678271	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000360840.5:c.930G>A	p.Arg310=	p.R310=	ENST00000360840	NM_016491.3	310	cgG/cgA	0	not done		synonymous	
MRPL37		inserm.fr	GRCh37	1	54681951	54681951	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000360840.5:c.1128G>A	p.Val376=	p.V376=	ENST00000360840	NM_016491.3	376	gtG/gtA	0	not done		synonymous	
ATP6V1H		inserm.fr	GRCh37	8	54684666	54684666	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1626T																					ENST00000359530.2:c.932A>T	p.Gln311Leu	p.Q311L	ENST00000359530	NM_015941.3	311	cAg/cTg	0	not done		probablydamaging	
TSEN34		inserm.fr	GRCh37	19	54695454	54695454	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC258T																					ENST00000396383.1:c.239G>A	p.Ser80Asn	p.S80N	ENST00000396383		80	aGc/aAc	0	validated		benign	
TSEN34		inserm.fr	GRCh37	19	54695966	54695966	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000396383.1:c.488-1G>A		p.X163_splice	ENST00000396383				0	not done		damaging	
LILRA6		inserm.fr	GRCh37	19	54746070	54746070	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM257T																					ENST00000396365.2:c.187G>T	p.Glu63Ter	p.E63*	ENST00000396365	NM_024318.2	63	Gag/Tag	0	validated		damaging	
LILRB5		inserm.fr	GRCh37	19	54758900	54758900	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC801T																					ENST00000449561.2:c.953G>T	p.Gly318Val	p.G318V	ENST00000449561		318	gGa/gTa	0	not done		probablydamaging	
LILRB5		inserm.fr	GRCh37	19	54760554	54760554	+	synonymous_variant	Silent	SNP	C	A	A			CHC432T																					ENST00000449561.2:c.153G>T	p.Gly51=	p.G51=	ENST00000449561		51	ggG/ggT	0	not done		synonymous	
ITIH6		inserm.fr	GRCh37	X	54776357	54776357	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC429T									Valid												ENST00000218436.6:c.3913G>T	p.Gly1305Cys	p.G1305C	ENST00000218436	NM_198510.2	1305	Ggc/Tgc	0	validated		possiblydamaging	
ITIH6		inserm.fr	GRCh37	X	54783545	54783545	+	synonymous_variant	Silent	SNP	G	A	A			CHC1531T																					ENST00000218436.6:c.2962C>T	p.Leu988=	p.L988=	ENST00000218436	NM_198510.2	988	Ctg/Ttg	0	not done		synonymous	
LILRB2		inserm.fr	GRCh37	19	54783697	54783697	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1725T																					ENST00000391749.4:c.304A>T	p.Ser102Cys	p.S102C	ENST00000391749	NM_001278406.1	102	Agc/Tgc	0	not done		probablydamaging	
LILRB2		inserm.fr	GRCh37	19	54783927	54783927	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000391749.4:c.74C>T	p.Thr25Ile	p.T25I	ENST00000391749	NM_001278406.1	25	aCc/aTc	0	not done		benign	
ITIH6		inserm.fr	GRCh37	X	54785307	54785307	+	synonymous_variant	Silent	SNP	G	A	A			CHC1148T																					ENST00000218436.6:c.1200C>T	p.Pro400=	p.P400=	ENST00000218436	NM_198510.2	400	ccC/ccT	0	not done		synonymous	
ITGA5		inserm.fr	GRCh37	12	54793534	54793534	+	synonymous_variant	Silent	SNP	C	A	A			CHC2103T																					ENST00000293379.4:c.2736G>T	p.Pro912=	p.P912=	ENST00000293379	NM_002205.2	912	ccG/ccT	0	not done		synonymous	
ITGA5		inserm.fr	GRCh37	12	54795824	54795824	+	synonymous_variant	Silent	SNP	C	A	A			CHC1754T																					ENST00000293379.4:c.2187G>T	p.Leu729=	p.L729=	ENST00000293379	NM_002205.2	729	ctG/ctT	0	not done		synonymous	
ITGA5		inserm.fr	GRCh37	12	54796042	54796042	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM325T																					ENST00000293379.4:c.2055G>T	p.Glu685Asp	p.E685D	ENST00000293379	NM_002205.2	685	gaG/gaT	0	validated		probablydamaging	
ITGA5		inserm.fr	GRCh37	12	54797558	54797558	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC437T																					ENST00000293379.4:c.1627A>T	p.Thr543Ser	p.T543S	ENST00000293379	NM_002205.2	543	Aca/Tca	0	not done		benign	
FAM83B		inserm.fr	GRCh37	6	54806751	54806751	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T									Valid												ENST00000306858.7:c.2982C>A	p.Asn994Lys	p.N994K	ENST00000306858	NM_001010872.2	994	aaC/aaA	0	validated		possiblydamaging	
BOD1L2		inserm.fr	GRCh37	18	54815017	54815017	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000585477.1:c.474G>A	p.Glu158=	p.E158=	ENST00000585477	NM_001257964.1	158	gaG/gaA	0	not done		synonymous	
ITIH6		inserm.fr	GRCh37	X	54815056	54815056	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC433T									Valid												ENST00000218436.6:c.643A>T	p.Arg215Trp	p.R215W	ENST00000218436	NM_198510.2	215	Agg/Tgg	0	validated		probablydamaging	
MAGED2		inserm.fr	GRCh37	X	54841726	54841726	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000375068.1:c.1432G>A	p.Ala478Thr	p.A478T	ENST00000375068		478	Gcg/Acg	0	not done		probablydamaging	
LILRA4		inserm.fr	GRCh37	19	54844920	54844920	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1053T																					ENST00000291759.4:c.1423C>T	p.Pro475Ser	p.P475S	ENST00000291759	NM_012276.3	475	Cca/Tca	0	validated		benign	
LILRA4		inserm.fr	GRCh37	19	54848765	54848765	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000291759.4:c.858C>T	p.Ser286=	p.S286=	ENST00000291759	NM_012276.3	286	agC/agT	0	not done		synonymous	
LILRA4		inserm.fr	GRCh37	19	54848932	54848932	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM783T									Valid												ENST00000291759.4:c.691G>T	p.Gly231Cys	p.G231C	ENST00000291759	NM_012276.3	231	Ggc/Tgc	0	validated		probablydamaging	
CACNA2D3		inserm.fr	GRCh37	3	54871258	54871258	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC2034T																					ENST00000474759.1:c.1470+1G>A		p.X490_splice	ENST00000474759	NM_018398.2			0	not done		damaging	
LAIR1		inserm.fr	GRCh37	19	54872565	54872565	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1154T																					ENST00000391742.2:c.322A>T	p.Lys108Ter	p.K108*	ENST00000391742		108	Aaa/Taa	0	not done		damaging	
CACNA2D3		inserm.fr	GRCh37	3	54880423	54880423	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2115T																					ENST00000474759.1:c.1555G>A	p.Gly519Arg	p.G519R	ENST00000474759	NM_018398.2	519	Ggg/Agg	0	not done		probablydamaging	
TCEA1		inserm.fr	GRCh37	8	54882992	54882992	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1714T																					ENST00000521604.2:c.857C>T	p.Thr286Ile	p.T286I	ENST00000521604	NM_006756.2	286	aCa/aTa	0	not done		probablydamaging	
UNC13C		inserm.fr	GRCh37	15	54919025	54919025	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000260323.11:c.6360-1G>A		p.X2120_splice	ENST00000260323	NM_001080534.1			0	not done		damaging	
UNC13C		inserm.fr	GRCh37	15	54919054	54919054	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1738T																					ENST00000260323.11:c.6388G>A	p.Ala2130Thr	p.A2130T	ENST00000260323	NM_001080534.1	2130	Gct/Act	0	not done		probablydamaging	
DGKE		inserm.fr	GRCh37	17	54925374	54925374	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000284061.3:c.836G>A	p.Gly279Glu	p.G279E	ENST00000284061	NM_003647.2	279	gGg/gAg	0	not done		probablydamaging	
DGKE		inserm.fr	GRCh37	17	54926215	54926215	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000284061.3:c.1046+1G>A		p.X349_splice	ENST00000284061	NM_003647.2			0	not done		damaging	
TRO		inserm.fr	GRCh37	X	54949023	54949023	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC429T									Valid												ENST00000173898.7:c.58C>A	p.Pro20Thr	p.P20T	ENST00000173898	NM_001039705.2	20	Ccc/Acc	0	not done		benign	
TRO		inserm.fr	GRCh37	X	54955448	54955448	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000173898.7:c.2291G>A	p.Ser764Asn	p.S764N	ENST00000173898	NM_001039705.2	764	aGc/aAc	0	not done		benign	
LRTM1		inserm.fr	GRCh37	3	54958795	54958795	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1207T																					ENST00000273286.5:c.455C>T	p.Ala152Val	p.A152V	ENST00000273286	NM_020678.2	152	gCg/gTg	0	not done		probablydamaging	
LENG8		inserm.fr	GRCh37	19	54967194	54967194	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000326764.5:c.1074G>A	p.Glu358=	p.E358=	ENST00000326764	NM_052925.2	358	gaG/gaA	0	not done		synonymous	
LENG8		inserm.fr	GRCh37	19	54967556	54967556	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1756T																					ENST00000326764.5:c.1357G>A	p.Val453Met	p.V453M	ENST00000326764	NM_052925.2	453	Gtg/Atg	0	not done		probablydamaging	
LENG8		inserm.fr	GRCh37	19	54967858	54967858	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000326764.5:c.1489G>A	p.Ala497Thr	p.A497T	ENST00000326764	NM_052925.2	497	Gcg/Acg	0	not done		benign	
TRIM25		inserm.fr	GRCh37	17	54972800	54972800	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC2358T																					ENST00000316881.4:c.1267G>T	p.Ala423Ser	p.A423S	ENST00000316881	NM_005082.4	423	Gca/Tca	0	validated		benign	
CGRRF1		inserm.fr	GRCh37	14	55004904	55004904	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000216420.7:c.802G>A	p.Glu268Lys	p.E268K	ENST00000216420	NM_006568.2	268	Gaa/Aaa	0	not done		probablydamaging	
LAIR2		inserm.fr	GRCh37	19	55019379	55019379	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2213T																					ENST00000301202.2:c.344T>A	p.Phe115Tyr	p.F115Y	ENST00000301202	NM_002288.4	115	tTc/tAc	0	validated		benign	
CASS4		inserm.fr	GRCh37	20	55020956	55020956	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371336.3:c.460G>A	p.Ala154Thr	p.A154T	ENST00000371336	NM_001164114.1	154	Gcc/Acc	0	not done		benign	
KIR3DX1		inserm.fr	GRCh37	19	55049232	55049232	+	missense_variant,splice_region_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	A	A			CHC432T																					ENST00000221567.6:c.997C>A	p.Leu333Met	p.L333M	ENST00000221567		333	Ctg/Atg	0	not done			
SCPEP1		inserm.fr	GRCh37	17	55058472	55058472	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262288.3:c.106G>A	p.Gly36Ser	p.G36S	ENST00000262288	NM_021626.2	36	Ggc/Agc	0	not done		benign	
ONECUT2		inserm.fr	GRCh37	18	55103413	55103413	+	synonymous_variant	Silent	SNP	G	A	A			CHC1704T																					ENST00000491143.2:c.465G>A	p.Gln155=	p.Q155=	ENST00000491143	NM_004852.2	155	caG/caA	0	not done		synonymous	
CACNA2D3		inserm.fr	GRCh37	3	55107828	55107828	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC902T																					ENST00000474759.1:c.3125G>A	p.Arg1042His	p.R1042H	ENST00000474759	NM_018398.2	1042	cGt/cAt	0	not done		probablydamaging	
FAM209B		inserm.fr	GRCh37	20	55108567	55108567	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC798T																					ENST00000371325.1:c.170G>A	p.Gly57Glu	p.G57E	ENST00000371325	NM_001013646.3	57	gGg/gAg	0	validated		probablydamaging	
LRRC56		inserm.fr	GRCh37	11	551235	551235	+	synonymous_variant	Silent	SNP	G	A	A			BCM321T																					ENST00000270115.7:c.729G>A	p.Pro243=	p.P243=	ENST00000270115	NM_198075.3	243	ccG/ccA	0	validated		synonymous	
PDGFRA		inserm.fr	GRCh37	4	55127302	55127302	+	synonymous_variant	Silent	SNP	C	A	A			CHC1185T																					ENST00000257290.5:c.90C>A	p.Ile30=	p.I30=	ENST00000257290	NM_006206.4	30	atC/atA	0	not done		synonymous	
HCRTR2		inserm.fr	GRCh37	6	55128556	55128556	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1534T																					ENST00000370862.3:c.698T>A	p.Met233Lys	p.M233K	ENST00000370862	NM_001526.3	233	aTg/aAg	0	validated		probablydamaging	
OR4A15		inserm.fr	GRCh37	11	55135738	55135738	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000314706.3:c.379G>A	p.Ala127Thr	p.A127T	ENST00000314706	NM_001005275.1	127	Gct/Act	0	not done		benign	
MROH7		inserm.fr	GRCh37	1	55136554	55136554	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	A	A			CHC961T																					ENST00000414150.2:c.1551C>A	p.Ser517=	p.S517=	ENST00000414150		517	tcC/tcA	0	validated		synonymous	
MROH7		inserm.fr	GRCh37	1	55136576	55136576	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000414150.2:c.1573G>A	p.Asp525Asn	p.D525N	ENST00000414150		525	Gac/Aac	0	not done		probablydamaging	
PDGFRA		inserm.fr	GRCh37	4	55146534	55146534	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000257290.5:c.2208G>A	p.Gln736=	p.Q736=	ENST00000257290	NM_006206.4	736	caG/caA	0	not done		synonymous	
MROH7		inserm.fr	GRCh37	1	55148437	55148437	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000414150.2:c.2490G>A	p.Lys830=	p.K830=	ENST00000414150		830	aaG/aaA	0	not done		synonymous	
PDGFRA		inserm.fr	GRCh37	4	55152023	55152023	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1035T									Valid												ENST00000257290.5:c.2455C>A	p.Leu819Met	p.L819M	ENST00000257290	NM_006206.4	819	Ctg/Atg	0	validated		probablydamaging	
LILRB4		inserm.fr	GRCh37	19	55175369	55175369	+	synonymous_variant	Silent	SNP	G	A	A			CHC1594T																					ENST00000391736.1:c.228G>A	p.Glu76=	p.E76=	ENST00000391736	NM_001278430.2	76	gaG/gaA	0	not done		synonymous	
LILRB4		inserm.fr	GRCh37	19	55177358	55177358	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC314T									Valid												ENST00000391736.1:c.850C>A	p.Arg284Ser	p.R284S	ENST00000391736	NM_001278430.2	284	Cgt/Agt	0	validated		probablydamaging	
LILRB4		inserm.fr	GRCh37	19	55177382	55177382	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000391736.1:c.874G>A	p.Ala292Thr	p.A292T	ENST00000391736	NM_001278430.2	292	Gcc/Acc	0	not done		benign	
LILRB4		inserm.fr	GRCh37	19	55179425	55179425	+	synonymous_variant	Silent	SNP	C	A	A			CHC429T																					ENST00000391736.1:c.1302C>A	p.Ala434=	p.A434=	ENST00000391736	NM_001278430.2	434	gcC/gcA	0	validated		synonymous	
AKAP1		inserm.fr	GRCh37	17	55184441	55184441	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM423T																					ENST00000337714.3:c.1616G>A	p.Ser539Asn	p.S539N	ENST00000337714	NM_003488.3	539	aGt/aAt	0	validated		benign	
FAM104B		inserm.fr	GRCh37	X	55185656	55185656	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC879T																					ENST00000425133.2:c.26G>T	p.Arg9Ile	p.R9I	ENST00000425133	NM_001166701.1	9	aGa/aTa	0	not done		probablydamaging	
TTC4		inserm.fr	GRCh37	1	55194041	55194041	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371281.3:c.617G>A	p.Arg206Lys	p.R206K	ENST00000371281	NM_004623.4	206	aGg/aAg	0	not done		probablydamaging	
IL31RA		inserm.fr	GRCh37	5	55195933	55195933	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1148T																					ENST00000447346.2:c.1042C>A	p.Leu348Met	p.L348M	ENST00000447346	NM_001242636.1	348	Ctg/Atg	0	not done		probablydamaging	
EGFR		inserm.fr	GRCh37	7	55214352	55214352	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000275493.2:c.478G>A	p.Glu160Lys	p.E160K	ENST00000275493	NM_005228.3	160	Gag/Aag	0	not done		benign	
RTN4		inserm.fr	GRCh37	2	55253062	55253062	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1745T																					ENST00000337526.6:c.2173G>T	p.Glu725Ter	p.E725*	ENST00000337526	NM_020532.4	725	Gaa/Taa	0	not done		damaging	
EGFR		inserm.fr	GRCh37	7	55269455	55269455	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000275493.2:c.3142G>A	p.Ala1048Thr	p.A1048T	ENST00000275493	NM_005228.3	1048	Gct/Act	0	not done		benign	
KIR2DL1		inserm.fr	GRCh37	19	55284987	55284987	+	synonymous_variant	Silent	SNP	G	A	A			CHC898T																					ENST00000336077.6:c.273G>A	p.Thr91=	p.T91=	ENST00000336077	NM_014218.2	91	acG/acA	0	not done		synonymous	
UBQLN3		inserm.fr	GRCh37	11	5530111	5530111	+	synonymous_variant	Silent	SNP	G	A	A			CHC1741T																					ENST00000311659.4:c.678C>T	p.Asn226=	p.N226=	ENST00000311659	NM_017481.2	226	aaC/aaT	0	not done		synonymous	
HMGCLL1		inserm.fr	GRCh37	6	55304323	55304323	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000398661.2:c.920G>T	p.Gly307Val	p.G307V	ENST00000398661	NM_019036.2	307	gGa/gTa	0	not done		probablydamaging	
KIR2DS4		inserm.fr	GRCh37	19	55349134	55349134	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1531T																					ENST00000339924.8:c.174C>A	p.Phe58Leu	p.F58L	ENST00000339924	NM_001281971.1	58	ttC/ttA	0	validated		probablydamaging	
ATP8B1		inserm.fr	GRCh37	18	55351267	55351267	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC1602T																					ENST00000536015.1:c.1630+1G>T		p.X544_splice	ENST00000536015	NM_005603.4			0	not done		possiblydamaging	
DHCR24		inserm.fr	GRCh37	1	55352709	55352709	+	synonymous_variant	Silent	SNP	G	A	A			CHC469T																					ENST00000371269.3:c.84C>T	p.Ile28=	p.I28=	ENST00000371269	NM_014762.3	28	atC/atT	0	validated		synonymous	
IRX6		inserm.fr	GRCh37	16	55360333	55360333	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1041T									Valid												ENST00000290552.7:c.131C>A	p.Ala44Glu	p.A44E	ENST00000290552	NM_024335.2	44	gCg/gAg	0	validated		probablydamaging	
KIR3DL2		inserm.fr	GRCh37	19	55363718	55363718	+	synonymous_variant	Silent	SNP	C	A	A			CHC1749T																					ENST00000326321.3:c.336C>A	p.Pro112=	p.P112=	ENST00000326321	NM_006737.3	112	ccC/ccA	0	not done		synonymous	
HMGCLL1		inserm.fr	GRCh37	6	55406607	55406607	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC796T									Valid												ENST00000398661.2:c.307G>T	p.Glu103Ter	p.E103*	ENST00000398661	NM_019036.2	103	Gaa/Taa	0	validated		damaging	
ANKRD55		inserm.fr	GRCh37	5	55407392	55407392	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC902T																					ENST00000341048.4:c.1183G>T	p.Glu395Ter	p.E395*	ENST00000341048	NM_024669.2	395	Gaa/Taa	0	not done		damaging	
NCR1		inserm.fr	GRCh37	19	55418012	55418012	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000291890.4:c.202G>A	p.Ala68Thr	p.A68T	ENST00000291890	NM_004829.6	68	Gcc/Acc	0	not done		probablydamaging	
NCR1		inserm.fr	GRCh37	19	55420682	55420682	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1040T																					ENST00000291890.4:c.434G>A	p.Arg145His	p.R145H	ENST00000291890	NM_004829.6	145	cGt/cAt	0	not done		benign	
NEUROD4		inserm.fr	GRCh37	12	55420755	55420755	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2110Tbis																					ENST00000242994.3:c.532C>A	p.Pro178Thr	p.P178T	ENST00000242994	NM_021191.2	178	Cct/Act	0	not done		benign	
OR4C6		inserm.fr	GRCh37	11	55433510	55433510	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000314259.3:c.868G>A	p.Ala290Thr	p.A290T	ENST00000314259	NM_001004704.1	290	Gca/Aca	0	not done		benign	
NLRP7		inserm.fr	GRCh37	19	55442013	55442013	+	synonymous_variant	Silent	SNP	G	A	A			CHC2211T																					ENST00000588756.1:c.2664C>T	p.Thr888=	p.T888=	ENST00000588756		888	acC/acT	0	not done		synonymous	
MTIF2		inserm.fr	GRCh37	2	55470801	55470801	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC432T																					ENST00000394600.3:c.1315A>T	p.Arg439Trp	p.R439W	ENST00000394600	NM_001005369.1	439	Agg/Tgg	0	not done		probablydamaging	
ANKRD55		inserm.fr	GRCh37	5	55471986	55471986	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000341048.4:c.305C>T	p.Thr102Ile	p.T102I	ENST00000341048	NM_024669.2	102	aCc/aTc	0	not done		probablydamaging	
LANCL2		inserm.fr	GRCh37	7	55493113	55493113	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1053T									Valid												ENST00000254770.2:c.1175G>A	p.Arg392Gln	p.R392Q	ENST00000254770	NM_018697.3	392	cGa/cAa	0	validated		probablydamaging	
NLRP2		inserm.fr	GRCh37	19	55493757	55493757	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000543010.1:c.691G>A	p.Ala231Thr	p.A231T	ENST00000543010	NM_001174081.1	231	Gca/Aca	0	not done		benign	
NLRP2		inserm.fr	GRCh37	19	55493867	55493867	+	synonymous_variant	Silent	SNP	T	A	A			CHC1211T																					ENST00000543010.1:c.801T>A	p.Pro267=	p.P267=	ENST00000543010	NM_001174081.1	267	ccT/ccA	0	not done		synonymous	
LANCL2		inserm.fr	GRCh37	7	55496071	55496071	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000254770.2:c.1189G>A	p.Ala397Thr	p.A397T	ENST00000254770	NM_018697.3	397	Gca/Aca	0	not done		probablydamaging	
RAB27A		inserm.fr	GRCh37	15	55497872	55497872	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1731T																					ENST00000396307.2:c.499G>T	p.Gly167Trp	p.G167W	ENST00000396307	NM_004580.4	167	Ggg/Tgg	0	not done		probablydamaging	
MMP2		inserm.fr	GRCh37	16	55516826	55516826	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000219070.4:c.159C>A	p.Tyr53Ter	p.Y53*	ENST00000219070	NM_004530.4	53	taC/taA	0	not done		damaging	
PCSK9		inserm.fr	GRCh37	1	55518058	55518058	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000302118.5:c.631G>A	p.Glu211Lys	p.E211K	ENST00000302118	NM_174936.3	211	Gag/Aag	0	not done		probablydamaging	
PCSK9		inserm.fr	GRCh37	1	55525337	55525337	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000302118.5:c.1681+1G>A		p.X561_splice	ENST00000302118	NM_174936.3			0	not done		damaging	
MAPK1IP1L		inserm.fr	GRCh37	14	55529997	55529997	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1747T																					ENST00000395468.4:c.680T>A	p.Val227Glu	p.V227E	ENST00000395468	NM_144578.3	227	gTg/gAg	0	not done		benign	
RP1		inserm.fr	GRCh37	8	55534129	55534129	+	synonymous_variant	Silent	SNP	G	A	A			CHC2115T																					ENST00000220676.1:c.603G>A	p.Thr201=	p.T201=	ENST00000220676	NM_006269.1	201	acG/acA	0	not done		synonymous	
RP1		inserm.fr	GRCh37	8	55542482	55542482	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000220676.1:c.6040G>A	p.Gly2014Arg	p.G2014R	ENST00000220676	NM_006269.1	2014	Ggg/Agg	0	not done		benign	
RP1		inserm.fr	GRCh37	8	55542635	55542635	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1192T																					ENST00000220676.1:c.6193G>A	p.Val2065Ile	p.V2065I	ENST00000220676	NM_006269.1	2065	Gtc/Atc	0	not done		possiblydamaging	
USP24		inserm.fr	GRCh37	1	55559704	55559704	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1708T																					ENST00000294383.6:c.6260C>T	p.Pro2087Leu	p.P2087L	ENST00000294383	NM_015306.2	2087	cCg/cTg	0	not done		possiblydamaging	
KIT		inserm.fr	GRCh37	4	55561752	55561752	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2098T																					ENST00000288135.5:c.142G>A	p.Val48Ile	p.V48I	ENST00000288135	NM_000222.2	48	Gtc/Atc	0	not done		possiblydamaging	
OR5D14		inserm.fr	GRCh37	11	55563175	55563175	+	synonymous_variant	Silent	SNP	C	A	A			CHC1035T																					ENST00000335605.1:c.144C>A	p.Ile48=	p.I48=	ENST00000335605	NM_001004735.1	48	atC/atA	0	validated		synonymous	
PCDH15		inserm.fr	GRCh37	10	55568517	55568517	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC469T																					ENST00000395440.1:c.2095A>T	p.Ser699Cys	p.S699C	ENST00000395440		699	Agc/Tgc	0	validated			
PCDH15		inserm.fr	GRCh37	10	55568684	55568684	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC801T																					ENST00000395440.1:c.1928G>T	p.Ser643Ile	p.S643I	ENST00000395440		643	aGt/aTt	0	not done			
RDH13		inserm.fr	GRCh37	19	55570546	55570546	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM325T																					ENST00000415061.3:c.163G>T	p.Ala55Ser	p.A55S	ENST00000415061	NM_001145971.1	55	Gcc/Tcc	0	validated		probablydamaging	
CCDC88A		inserm.fr	GRCh37	2	55573445	55573445	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB157T																					ENST00000336838.6:c.907C>T	p.Arg303Cys	p.R303C	ENST00000336838		303	Cgc/Tgc	0	validated		probablydamaging	
PDCD1LG2		inserm.fr	GRCh37	9	5557650	5557650	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000397747.3:c.664C>A	p.Leu222Met	p.L222M	ENST00000397747	NM_025239.3	222	Ctg/Atg	0	not done		probablydamaging	
OR5L1		inserm.fr	GRCh37	11	55579400	55579400	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1598T																					ENST00000333973.2:c.458C>A	p.Thr153Lys	p.T153K	ENST00000333973	NM_001004738.1	153	aCg/aAg	0	not done		possiblydamaging	
OR5L1		inserm.fr	GRCh37	11	55579467	55579467	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM337T																					ENST00000333973.2:c.525C>A	p.Asn175Lys	p.N175K	ENST00000333973	NM_001004738.1	175	aaC/aaA	0	validated		possiblydamaging	
OR5L1		inserm.fr	GRCh37	11	55579736	55579736	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000333973.2:c.794G>A	p.Gly265Asp	p.G265D	ENST00000333973	NM_001004738.1	265	gGc/gAc	0	not done		benign	
PCDH15		inserm.fr	GRCh37	10	55581857	55581857	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1629T																					ENST00000361849.3:c.5635A>T	p.Arg1879Ter	p.R1879*	ENST00000361849	NM_001142768.1	1879	Aga/Tga	0	not done		damaging	
PCDH15		inserm.fr	GRCh37	10	55581898	55581898	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1534T																					ENST00000361849.3:c.5594C>T	p.Thr1865Ile	p.T1865I	ENST00000361849	NM_001142768.1	1865	aCa/aTa	0	validated		benign	
OR5D18		inserm.fr	GRCh37	11	55587282	55587282	+	synonymous_variant	Silent	SNP	C	A	A			CHC1035T																					ENST00000333976.4:c.177C>A	p.Pro59=	p.P59=	ENST00000333976	NM_001001952.1	59	ccC/ccA	0	validated		synonymous	
EPS8L1		inserm.fr	GRCh37	19	55589482	55589482	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000201647.6:c.44C>A	p.Ala15Asp	p.A15D	ENST00000201647	NM_133180.2	15	gCc/gAc	0	not done		probablydamaging	
KIT		inserm.fr	GRCh37	4	55589789	55589789	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000288135.5:c.1271G>A	p.Gly424Asp	p.G424D	ENST00000288135	NM_000222.2	424	gGc/gAc	0	not done		possiblydamaging	
KIT		inserm.fr	GRCh37	4	55592212	55592212	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000288135.5:c.1536C>A	p.Asn512Lys	p.N512K	ENST00000288135	NM_000222.2	512	aaC/aaA	0	not done		benign	
KIT		inserm.fr	GRCh37	4	55593602	55593602	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000288135.5:c.1668G>A	p.Gln556=	p.Q556=	ENST00000288135	NM_000222.2	556	caG/caA	0	not done		synonymous	
OR5L2		inserm.fr	GRCh37	11	55594824	55594824	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC451T																					ENST00000378397.1:c.130G>A	p.Gly44Ser	p.G44S	ENST00000378397	NM_001004739.1	44	Ggc/Agc	0	validated		probablydamaging	
EPS8L1		inserm.fr	GRCh37	19	55597272	55597272	+	synonymous_variant	Silent	SNP	C	A	A			CHC302T																					ENST00000201647.6:c.1449C>A	p.Val483=	p.V483=	ENST00000201647	NM_133180.2	483	gtC/gtA	0	validated		synonymous	
OR5D16		inserm.fr	GRCh37	11	55606311	55606311	+	synonymous_variant	Silent	SNP	C	A	A			CHC879T																					ENST00000378396.1:c.84C>A	p.Pro28=	p.P28=	ENST00000378396	NM_001005496.1	28	ccC/ccA	0	not done		synonymous	
OR10A7		inserm.fr	GRCh37	12	55614978	55614978	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC917T																					ENST00000326258.1:c.170C>A	p.Thr57Lys	p.T57K	ENST00000326258	NM_001005280.1	57	aCa/aAa	0	validated		possiblydamaging	
PCDH15		inserm.fr	GRCh37	10	55626475	55626475	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC301T																					ENST00000361849.3:c.3644G>T	p.Arg1215Ile	p.R1215I	ENST00000361849	NM_001142768.1	1215	aGa/aTa	0	validated		probablydamaging	
OR6C74		inserm.fr	GRCh37	12	55641351	55641351	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1611T																					ENST00000343870.4:c.280G>A	p.Asp94Asn	p.D94N	ENST00000343870	NM_001005490.1	94	Gat/Aat	0	not done		benign	
TNNT1		inserm.fr	GRCh37	19	55653285	55653285	+	synonymous_variant	Silent	SNP	G	A	A			CHC432T																					ENST00000588981.1:c.132C>T	p.Arg44=	p.R44=	ENST00000588981	NM_003283.4	44	cgC/cgT	0	not done		synonymous	
SYT5		inserm.fr	GRCh37	19	55689567	55689567	+	synonymous_variant	Silent	SNP	G	A	A			CHC1714T																					ENST00000354308.3:c.249C>T	p.Asp83=	p.D83=	ENST00000354308	NM_003180.2	83	gaC/gaT	0	not done		synonymous	
ACTB		inserm.fr	GRCh37	7	5569032	5569032	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC1053T																					ENST00000331789.5:c.124-1G>T		p.X42_splice	ENST00000331789	NM_001101.3			0	validated		damaging	
SLC6A2		inserm.fr	GRCh37	16	55690613	55690613	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000219833.8:c.7C>A	p.Leu3Met	p.L3M	ENST00000219833	NM_001172504.1	3	Ctg/Atg	0	not done		benign	
SLC6A2		inserm.fr	GRCh37	16	55731820	55731820	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000219833.8:c.1272G>A	p.Met424Ile	p.M424I	ENST00000219833	NM_001172504.1	424	atG/atA	0	not done		possiblydamaging	
OR10AG1		inserm.fr	GRCh37	11	55735303	55735303	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1052T																					ENST00000312345.2:c.637A>T	p.Ile213Phe	p.I213F	ENST00000312345	NM_001005491.1	213	Atc/Ttc	0	validated		benign	
BMP7		inserm.fr	GRCh37	20	55748344	55748344	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM531T																					ENST00000395863.3:c.1058G>T	p.Gly353Val	p.G353V	ENST00000395863	NM_001719.2	353	gGc/gTc	0	validated		probablydamaging	
PPP6R1		inserm.fr	GRCh37	19	55753004	55753004	+	synonymous_variant	Silent	SNP	G	A	A			CHC902T																					ENST00000412770.2:c.849C>T	p.Ser283=	p.S283=	ENST00000412770	NM_014931.3	283	tcC/tcT	0	not done		synonymous	
OR5F1		inserm.fr	GRCh37	11	55762075	55762075	+	synonymous_variant	Silent	SNP	C	A	A			CHC1154T																					ENST00000278409.1:c.27G>T	p.Leu9=	p.L9=	ENST00000278409	NM_003697.1	9	ctG/ctT	0	validated		synonymous	
OR5AS1		inserm.fr	GRCh37	11	55798255	55798255	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM257T																					ENST00000313555.1:c.361G>A	p.Asp121Asn	p.D121N	ENST00000313555	NM_001001921.1	121	Gac/Aac	0	validated		probablydamaging	
BRSK1		inserm.fr	GRCh37	19	55805436	55805436	+	synonymous_variant	Silent	SNP	C	A	A			BCM739T																					ENST00000309383.1:c.510C>A	p.Ile170=	p.I170=	ENST00000309383	NM_032430.1	170	atC/atA	0	validated		synonymous	
BRSK1		inserm.fr	GRCh37	19	55814172	55814172	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000309383.1:c.965G>A	p.Ser322Asn	p.S322N	ENST00000309383	NM_032430.1	322	aGc/aAc	0	not done		probablydamaging	
OR6C76		inserm.fr	GRCh37	12	55820173	55820173	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC793T									Valid												ENST00000328314.3:c.136C>A	p.Leu46Ile	p.L46I	ENST00000328314	NM_001005183.1	46	Ctt/Att	0	validated		probablydamaging	
ATG14		inserm.fr	GRCh37	14	55848694	55848694	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2208T																					ENST00000247178.5:c.863C>T	p.Thr288Ile	p.T288I	ENST00000247178	NM_014924.4	288	aCa/aTa	0	not done		probablydamaging	
SUV420H2		inserm.fr	GRCh37	19	55853601	55853601	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000255613.3:c.129G>A	p.Arg43=	p.R43=	ENST00000255613	NM_032701.3	43	cgG/cgA	0	not done		synonymous	
SUV420H2		inserm.fr	GRCh37	19	55858493	55858493	+	synonymous_variant	Silent	SNP	C	A	A			CHC322T																					ENST00000255613.3:c.1065C>A	p.Ser355=	p.S355=	ENST00000255613	NM_032701.3	355	tcC/tcA	0	validated		synonymous	
SAFB2		inserm.fr	GRCh37	19	5587937	5587937	+	synonymous_variant	Silent	SNP	G	A	A			BCM695T																					ENST00000252542.4:c.2580C>T	p.Arg860=	p.R860=	ENST00000252542	NM_014649.2	860	cgC/cgT	0	validated		synonymous	
OR6C68		inserm.fr	GRCh37	12	55886479	55886479	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000548615.1:c.318G>A	p.Gly106=	p.G106=	ENST00000548615	NM_001005519.2	106	ggG/ggA	0	not done		synonymous	
OR8H3		inserm.fr	GRCh37	11	55890354	55890354	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2052T																					ENST00000313472.3:c.506G>A	p.Cys169Tyr	p.C169Y	ENST00000313472	NM_001005201.1	169	tGt/tAt	0	not done		benign	
COL21A1		inserm.fr	GRCh37	6	55923971	55923971	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC805T																					ENST00000244728.5:c.2678G>T	p.Gly893Val	p.G893V	ENST00000244728	NM_030820.3	893	gGt/gTt	0	not done		probablydamaging	
RAE1		inserm.fr	GRCh37	20	55940481	55940481	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000395841.2:c.358G>A	p.Ala120Thr	p.A120T	ENST00000395841	NM_003610.3	120	Gcg/Acg	0	not done		benign	
PCDH15		inserm.fr	GRCh37	10	55944983	55944983	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1738T																					ENST00000361849.3:c.1351G>T	p.Val451Phe	p.V451F	ENST00000361849	NM_001142768.1	451	Gtc/Ttc	0	not done		benign	
SHISA7		inserm.fr	GRCh37	19	55952104	55952104	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB109T																					ENST00000376325.4:c.700G>T	p.Ala234Ser	p.A234S	ENST00000376325	NM_001145176.1	234	Gcg/Tcg	0	validated		benign	
PCDH15		inserm.fr	GRCh37	10	55955555	55955555	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000361849.3:c.1193C>T	p.Pro398Leu	p.P398L	ENST00000361849	NM_001142768.1	398	cCc/cTc	0	not done		benign	
KDR		inserm.fr	GRCh37	4	55991402	55991402	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000263923.4:c.59C>T	p.Ala20Val	p.A20V	ENST00000263923	NM_002253.2	20	gCc/gTc	0	not done		benign	
ZNF628		inserm.fr	GRCh37	19	55993458	55993458	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1568T																					ENST00000598519.1:c.898T>A	p.Cys300Ser	p.C300S	ENST00000598519	NM_033113.2	300	Tgc/Agc	0	validated		probablydamaging	
ZNF628		inserm.fr	GRCh37	19	55993699	55993699	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000598519.1:c.1139C>A	p.Ala380Asp	p.A380D	ENST00000598519	NM_033113.2	380	gCt/gAt	0	validated		benign	
ZNF628		inserm.fr	GRCh37	19	55993963	55993963	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000598519.1:c.1403G>A	p.Gly468Glu	p.G468E	ENST00000598519	NM_033113.2	468	gGg/gAg	0	not done		probablydamaging	
PCDH15		inserm.fr	GRCh37	10	55996624	55996624	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC465T									Valid												ENST00000361849.3:c.944C>T	p.Pro315Leu	p.P315L	ENST00000361849	NM_001142768.1	315	cCg/cTg	0	validated		probablydamaging	
SSC5D		inserm.fr	GRCh37	19	56002216	56002216	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB111T									Valid												ENST00000389623.6:c.664G>A	p.Val222Ile	p.V222I	ENST00000389623	NM_001144950.1	222	Gta/Ata	0	validated		probablydamaging	
ZNF713		inserm.fr	GRCh37	7	56007419	56007419	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1739T																					ENST00000429591.2:c.1013T>A	p.Phe338Tyr	p.F338Y	ENST00000429591	NM_182633.1	338	tTt/tAt	0	not done		probablydamaging	
NEDD4L		inserm.fr	GRCh37	18	56008299	56008299	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000400345.3:c.1155G>A	p.Pro385=	p.P385=	ENST00000400345	NM_001144967.2	385	ccG/ccA	0	validated		synonymous	
SSC5D		inserm.fr	GRCh37	19	56009442	56009442	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1205T																					ENST00000389623.6:c.1583G>A	p.Gly528Asp	p.G528D	ENST00000389623	NM_001144950.1	528	gGc/gAc	0	not done		probablydamaging	
SSC5D		inserm.fr	GRCh37	19	56011717	56011717	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM617T																					ENST00000389623.6:c.2240G>A	p.Gly747Glu	p.G747E	ENST00000389623	NM_001144950.1	747	gGg/gAg	0	validated		probablydamaging	
SSC5D		inserm.fr	GRCh37	19	56012125	56012125	+	synonymous_variant	Silent	SNP	G	A	A			CHC1545T																					ENST00000389623.6:c.2571G>A	p.Gly857=	p.G857=	ENST00000389623	NM_001144950.1	857	ggG/ggA	0	not done		synonymous	
OR5T3		inserm.fr	GRCh37	11	56020397	56020397	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1624T																					ENST00000303059.3:c.722T>A	p.Ile241Asn	p.I241N	ENST00000303059	NM_001004747.1	241	aTc/aAc	0	validated		probablydamaging	
MRPS17		inserm.fr	GRCh37	7	56022742	56022742	+	synonymous_variant	Silent	SNP	T	A	A			CHC1044T																					ENST00000285298.4:c.264T>A	p.Val88=	p.V88=	ENST00000285298	NM_015969.2	88	gtT/gtA	0	not done		synonymous	
SSC5D		inserm.fr	GRCh37	19	56029616	56029616	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2141T																					ENST00000389623.6:c.3973C>A	p.Pro1325Thr	p.P1325T	ENST00000389623	NM_001144950.1	1325	Ccc/Acc	0	not done		benign	
GBAS		inserm.fr	GRCh37	7	56049973	56049973	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000322090.3:c.444G>A	p.Lys148=	p.K148=	ENST00000322090	NM_001483.2	148	aaG/aaA	0	not done		damaging	
SGK110		inserm.fr	GRCh37	19	56052719	56052719	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000420723.3:c.573C>T	p.Gly191=	p.G191=	ENST00000420723	NM_001199824.2	191	ggC/ggT	0	not done		synonymous	
ERC2		inserm.fr	GRCh37	3	56052950	56052950	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000288221.6:c.1751C>T	p.Ala584Val	p.A584V	ENST00000288221	NM_015576.1	584	gCg/gTg	0	not done		possiblydamaging	
GBAS		inserm.fr	GRCh37	7	56065080	56065080	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000322090.3:c.734G>A	p.Arg245Lys	p.R245K	ENST00000322090	NM_001483.2	245	aGg/aAg	0	not done		benign	
CTCFL		inserm.fr	GRCh37	20	56089665	56089665	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB151T																					ENST00000423479.3:c.1313C>T	p.Ala438Val	p.A438V	ENST00000423479	NM_001269043.1	438	gCa/gTa	0	validated		probablydamaging	
CTCFL		inserm.fr	GRCh37	20	56090848	56090848	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1736T																					ENST00000423479.3:c.1102C>T	p.Arg368Cys	p.R368C	ENST00000423479	NM_001269043.1	368	Cgc/Tgc	0	not done		probablydamaging	
ITGA7		inserm.fr	GRCh37	12	56092288	56092288	+	synonymous_variant	Silent	SNP	C	A	A			BCB157T																					ENST00000553804.1:c.1083G>T	p.Val361=	p.V361=	ENST00000553804	NM_001144996.1	361	gtG/gtT	0	validated		synonymous	
OR8K1		inserm.fr	GRCh37	11	56113597	56113597	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000279783.2:c.83G>A	p.Gly28Glu	p.G28E	ENST00000279783	NM_001002907.1	28	gGg/gAg	0	not done		benign	
OR8K1		inserm.fr	GRCh37	11	56113963	56113963	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC121T									Valid												ENST00000279783.2:c.449T>A	p.Leu150Gln	p.L150Q	ENST00000279783	NM_001002907.1	150	cTg/cAg	0	validated		probablydamaging	
OR8K1		inserm.fr	GRCh37	11	56114368	56114368	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM275T									Valid												ENST00000279783.2:c.854C>A	p.Thr285Asn	p.T285N	ENST00000279783	NM_001002907.1	285	aCc/aAc	0	validated		probablydamaging	
CCT6A		inserm.fr	GRCh37	7	56122166	56122166	+	synonymous_variant	Silent	SNP	G	A	A			CHC510T																					ENST00000275603.4:c.306G>A	p.Leu102=	p.L102=	ENST00000275603	NM_001762.3	102	ctG/ctA	0	validated		synonymous	
CCT6A		inserm.fr	GRCh37	7	56124025	56124025	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T																					ENST00000275603.4:c.532G>A	p.Ala178Thr	p.A178T	ENST00000275603	NM_001762.3	178	Gcc/Acc	0	validated		benign	
OR8J1		inserm.fr	GRCh37	11	56127937	56127937	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000303039.3:c.215G>A	p.Gly72Asp	p.G72D	ENST00000303039	NM_001005205.2	72	gGt/gAt	0	not done		benign	
PCK1		inserm.fr	GRCh37	20	56140782	56140782	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000319441.4:c.1791G>A	p.Glu597=	p.E597=	ENST00000319441	NM_002591.3	597	gaG/gaA	0	not done		synonymous	
GDF11		inserm.fr	GRCh37	12	56142371	56142371	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			BCM723T																					ENST00000257868.5:c.447G>A	p.Thr149=	p.T149=	ENST00000257868	NM_005811.3	149	acG/acA	0	validated		damaging	
NEDD4		inserm.fr	GRCh37	15	56142894	56142894	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000338963.2:c.2234G>T	p.Gly745Val	p.G745V	ENST00000338963	NM_198400.2	745	gGc/gTc	0	not done		benign	
EFEMP1		inserm.fr	GRCh37	2	56145156	56145156	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1757T																					ENST00000394555.2:c.161C>T	p.Ala54Val	p.A54V	ENST00000394555	NM_001039348.2	54	gCt/gTt	0	not done		probablydamaging	
ZNF580		inserm.fr	GRCh37	19	56154314	56154314	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000543039.1:c.440G>A	p.Gly147Glu	p.G147E	ENST00000543039	NM_016202.2	147	gGg/gAg	0	not done		benign	
ZNF581		inserm.fr	GRCh37	19	56156373	56156373	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2211T																					ENST00000587252.1:c.436G>A	p.Gly146Ser	p.G146S	ENST00000587252		146	Ggc/Agc	0	not done		benign	
MAP3K1		inserm.fr	GRCh37	5	56161222	56161222	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2141T																					ENST00000399503.3:c.1091G>A	p.Arg364Gln	p.R364Q	ENST00000399503	NM_005921.1	364	cGg/cAg	0	not done		probablydamaging	
CCDC106		inserm.fr	GRCh37	19	56162675	56162675	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC121T																					ENST00000586790.1:c.340C>A	p.Pro114Thr	p.P114T	ENST00000586790		114	Ccc/Acc	0	validated		benign	
MAP3K1		inserm.fr	GRCh37	5	56171089	56171089	+	synonymous_variant	Silent	SNP	G	A	A			CHC1629T																					ENST00000399503.3:c.1917G>A	p.Leu639=	p.L639=	ENST00000399503	NM_005921.1	639	ctG/ctA	0	not done		synonymous	
ERC2		inserm.fr	GRCh37	3	56183026	56183026	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000288221.6:c.1284C>T	p.His428=	p.H428=	ENST00000288221	NM_015576.1	428	caC/caT	0	not done		synonymous	
NUPR1L		inserm.fr	GRCh37	7	56183756	56183756	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000329309.3:c.252C>T	p.Arg84=	p.R84=	ENST00000329309	NM_001145712.1	84	cgC/cgT	0	not done			
OR5R1		inserm.fr	GRCh37	11	56185444	56185444	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC614T									Valid												ENST00000312253.1:c.265C>T	p.Arg89Cys	p.R89C	ENST00000312253	NM_001004744.1	89	Cgc/Tgc	0	validated		possiblydamaging	
ALPK2		inserm.fr	GRCh37	18	56205418	56205418	+	synonymous_variant	Silent	SNP	G	A	A			CHC1704T																					ENST00000361673.3:c.2001C>T	p.Cys667=	p.C667=	ENST00000361673	NM_052947.3	667	tgC/tgT	0	not done		synonymous	
EPN1		inserm.fr	GRCh37	19	56206156	56206156	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000411543.2:c.1587G>A	p.Gly529=	p.G529=	ENST00000411543	NM_001130071.1	529	ggG/ggA	0	not done		synonymous	
PMEPA1		inserm.fr	GRCh37	20	56228119	56228119	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1079T																					ENST00000341744.3:c.288G>T	p.Glu96Asp	p.E96D	ENST00000341744	NM_020182.4	96	gaG/gaT	0	validated		benign	
OR5M9		inserm.fr	GRCh37	11	56230826	56230826	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1708T																					ENST00000279791.1:c.52C>T	p.Arg18Cys	p.R18C	ENST00000279791	NM_001004743.1	18	Cgt/Tgt	0	not done		probablydamaging	
OR4D1		inserm.fr	GRCh37	17	56232560	56232560	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000268912.5:c.46G>A	p.Gly16Arg	p.G16R	ENST00000268912	NM_012374.1	16	Ggg/Agg	0	not done		probablydamaging	
OR5M3		inserm.fr	GRCh37	11	56237293	56237293	+	synonymous_variant	Silent	SNP	G	A	A			CHC1629T																					ENST00000312240.2:c.681C>T	p.Arg227=	p.R227=	ENST00000312240	NM_001004742.2	227	cgC/cgT	0	not done		synonymous	
OR4D2		inserm.fr	GRCh37	17	56247137	56247137	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000545221.1:c.121G>A	p.Gly41Arg	p.G41R	ENST00000545221	NM_001004707.3	41	Gga/Aga	0	not done		probablydamaging	
TRIM6		inserm.fr	GRCh37	11	5624716	5624716	+	synonymous_variant	Silent	SNP	G	A	A			CHC1035T																					ENST00000354852.5:c.258G>A	p.Val86=	p.V86=	ENST00000354852	NM_001003819.3	86	gtG/gtA	0	validated		synonymous	
EPX		inserm.fr	GRCh37	17	56270408	56270408	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000225371.5:c.86G>A	p.Gly29Glu	p.G29E	ENST00000225371	NM_000502.4	29	gGg/gAg	0	not done		benign	
EPX		inserm.fr	GRCh37	17	56271376	56271376	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000225371.5:c.517G>A	p.Ala173Thr	p.A173T	ENST00000225371	NM_000502.4	173	Gcc/Acc	0	validated		probablydamaging	
EPX		inserm.fr	GRCh37	17	56274527	56274527	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1035T									Valid												ENST00000225371.5:c.1029C>A	p.Asp343Glu	p.D343E	ENST00000225371	NM_000502.4	343	gaC/gaA	0	validated		probablydamaging	
RFPL4AP1		inserm.fr	GRCh37	19	56289775	56289775	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000530883.1:n.359G>A		*120*	ENST00000530883				0	not done		synonymous	
WIBG		inserm.fr	GRCh37	12	56295695	56295695	+	synonymous_variant	Silent	SNP	C	A	A			CHC1731T																					ENST00000408946.2:c.576G>T	p.Ala192=	p.A192=	ENST00000408946	NM_032345.2	192	gcG/gcT	0	not done		synonymous	
NLRP11		inserm.fr	GRCh37	19	56320469	56320469	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1749T																					ENST00000443188.1:c.1507A>T	p.Arg503Trp	p.R503W	ENST00000443188	NM_145007.3	503	Agg/Tgg	0	not done		probablydamaging	
DST		inserm.fr	GRCh37	6	56324066	56324066	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC805T																					ENST00000244364.6:c.15254-1G>T		p.X5085_splice	ENST00000244364	NM_015548.4			0	not done		possiblydamaging	
DST		inserm.fr	GRCh37	6	56324944	56324944	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC2208T																					ENST00000244364.6:c.15238C>T	p.Arg5080Ter	p.R5080*	ENST00000244364	NM_015548.4	5080	Cga/Tga	0	not done		damaging	
ERC2		inserm.fr	GRCh37	3	56330047	56330047	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			BCM337T																					ENST00000288221.6:c.1074G>T	p.Glu358Asp	p.E358D	ENST00000288221	NM_015576.1	358	gaG/gaT	0	validated		probablydamaging	
ERC2		inserm.fr	GRCh37	3	56330108	56330108	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1738T																					ENST00000288221.6:c.1013A>T	p.Gln338Leu	p.Q338L	ENST00000288221	NM_015576.1	338	cAg/cTg	0	not done		possiblydamaging	
MPO		inserm.fr	GRCh37	17	56350112	56350112	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000225275.3:c.1789C>T	p.Pro597Ser	p.P597S	ENST00000225275	NM_000250.1	597	Cca/Tca	0	not done		probablydamaging	
MPO		inserm.fr	GRCh37	17	56356541	56356541	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC097T																					ENST00000225275.3:c.713C>T	p.Pro238Leu	p.P238L	ENST00000225275	NM_000250.1	238	cCc/cTc	0	not done		probablydamaging	
NLRP4		inserm.fr	GRCh37	19	56369577	56369577	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC432T																					ENST00000301295.6:c.818C>A	p.Ala273Asp	p.A273D	ENST00000301295	NM_134444.4	273	gCc/gAc	0	not done		probablydamaging	
DST		inserm.fr	GRCh37	6	56373433	56373433	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1192T																					ENST00000244364.6:c.11264A>T	p.His3755Leu	p.H3755L	ENST00000244364	NM_015548.4	3755	cAc/cTc	0	not done		probablydamaging	
OR5M1		inserm.fr	GRCh37	11	56380596	56380596	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000526538.1:c.383G>T	p.Ser128Ile	p.S128I	ENST00000526538	NM_001004740.1	128	aGc/aTc	0	not done		possiblydamaging	
OR5M1		inserm.fr	GRCh37	11	56380710	56380710	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1591T																					ENST00000526538.1:c.269A>T	p.Lys90Met	p.K90M	ENST00000526538	NM_001004740.1	90	aAg/aTg	0	not done		probablydamaging	
BZRAP1		inserm.fr	GRCh37	17	56381753	56381753	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T									Valid												ENST00000343736.4:c.5552G>T	p.Arg1851Met	p.R1851M	ENST00000343736		1851	aGg/aTg	0	validated		probablydamaging	
BZRAP1		inserm.fr	GRCh37	17	56389538	56389538	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000343736.4:c.2644G>T	p.Gly882Ter	p.G882*	ENST00000343736		882	Gga/Tga	0	not done		damaging	
BZRAP1		inserm.fr	GRCh37	17	56389986	56389986	+	synonymous_variant	Silent	SNP	G	A	A			BCM397T																					ENST00000343736.4:c.2196C>T	p.Ala732=	p.A732=	ENST00000343736		732	gcC/gcT	0	validated		synonymous	
DST		inserm.fr	GRCh37	6	56392378	56392378	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM399T									Valid												ENST00000244364.6:c.9966G>T	p.Trp3322Cys	p.W3322C	ENST00000244364	NM_015548.4	3322	tgG/tgT	0	validated		probablydamaging	
DST		inserm.fr	GRCh37	6	56392487	56392487	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1594T																					ENST00000244364.6:c.9857C>T	p.Ala3286Val	p.A3286V	ENST00000244364	NM_015548.4	3286	gCa/gTa	0	not done		benign	
SUOX		inserm.fr	GRCh37	12	56397841	56397841	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM265T									Valid												ENST00000394109.3:c.668C>A	p.Pro223His	p.P223H	ENST00000394109		223	cCt/cAt	0	validated		probablydamaging	
DST		inserm.fr	GRCh37	6	56400007	56400007	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1148T																					ENST00000244364.6:c.8985G>T	p.Trp2995Cys	p.W2995C	ENST00000244364	NM_015548.4	2995	tgG/tgT	0	not done		probablydamaging	
OR5AP2		inserm.fr	GRCh37	11	56409525	56409525	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000302981.1:c.391G>T	p.Ala131Ser	p.A131S	ENST00000302981	NM_001002925.1	131	Gcc/Tcc	0	not done		probablydamaging	
OR5AP2		inserm.fr	GRCh37	11	56409687	56409687	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000302981.1:c.229G>T	p.Ala77Ser	p.A77S	ENST00000302981	NM_001002925.1	77	Gcc/Tcc	0	not done		benign	
CCDC85A		inserm.fr	GRCh37	2	56419653	56419653	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000407595.2:c.318G>A	p.Arg106=	p.R106=	ENST00000407595	NM_001080433.1	106	agG/agA	0	not done		synonymous	
CCDC85A		inserm.fr	GRCh37	2	56419740	56419740	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000407595.2:c.405G>A	p.Gly135=	p.G135=	ENST00000407595	NM_001080433.1	135	ggG/ggA	0	not done		synonymous	
NLRP13		inserm.fr	GRCh37	19	56423664	56423664	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2034T																					ENST00000342929.3:c.1519G>T	p.Gly507Cys	p.G507C	ENST00000342929	NM_176810.2	507	Ggc/Tgc	0	not done		benign	
DST		inserm.fr	GRCh37	6	56433293	56433293	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1626T																					ENST00000244364.6:c.6110C>T	p.Ala2037Val	p.A2037V	ENST00000244364	NM_015548.4	2037	gCa/gTa	0	not done		probablydamaging	
RNF43		inserm.fr	GRCh37	17	56435311	56435311	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000407977.2:c.1826G>T	p.Arg609Leu	p.R609L	ENST00000407977		609	cGg/cTg	0	not done		benign	
RNF43		inserm.fr	GRCh37	17	56435526	56435526	+	synonymous_variant	Silent	SNP	C	A	A			CHC1626T																					ENST00000407977.2:c.1611G>T	p.Val537=	p.V537=	ENST00000407977		537	gtG/gtT	0	not done		synonymous	
XKR4		inserm.fr	GRCh37	8	56435944	56435944	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000327381.6:c.1111G>A	p.Ala371Thr	p.A371T	ENST00000327381	NM_052898.1	371	Gcc/Acc	0	not done		probablydamaging	
RNF43		inserm.fr	GRCh37	17	56436105	56436105	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1744T																					ENST00000407977.2:c.1032G>T	p.Gln344His	p.Q344H	ENST00000407977		344	caG/caT	0	not done		probablydamaging	
XKR4		inserm.fr	GRCh37	8	56436337	56436337	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T									Valid												ENST00000327381.6:c.1504G>A	p.Gly502Ser	p.G502S	ENST00000327381	NM_052898.1	502	Ggc/Agc	0	validated		probablydamaging	
FSCN1		inserm.fr	GRCh37	7	5645020	5645020	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2111T																					ENST00000382361.3:c.1397G>A	p.Gly466Asp	p.G466D	ENST00000382361	NM_003088.3	466	gGc/gAc	0	not done		benign	
NLRP8		inserm.fr	GRCh37	19	56466872	56466872	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000291971.3:c.1448G>A	p.Gly483Glu	p.G483E	ENST00000291971	NM_176811.2	483	gGa/gAa	0	not done		benign	
DST		inserm.fr	GRCh37	6	56482975	56482975	+	intron_variant	Intron	SNP	G	A	A			CHC2351T																					ENST00000244364.6:c.3319-3693C>T		*1107*	ENST00000244364	NM_015548.4			0	not done		damaging	
RNF43		inserm.fr	GRCh37	17	56492868	56492868	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1598T																					ENST00000407977.2:c.71G>T	p.Gly24Val	p.G24V	ENST00000407977		24	gGc/gTc	0	not done		possiblydamaging	
OR9G4		inserm.fr	GRCh37	11	56510631	56510631	+	synonymous_variant	Silent	SNP	G	A	A			CHC1597T																					ENST00000302957.3:c.657C>T	p.Gly219=	p.G219=	ENST00000302957	NM_001005284.1	219	ggC/ggT	0	not done		synonymous	
SAFB		inserm.fr	GRCh37	19	5653166	5653166	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000588852.1:c.1334G>A	p.Gly445Glu	p.G445E	ENST00000588852		445	gGa/gAa	0	not done		probablydamaging	
NLRP5		inserm.fr	GRCh37	19	56539284	56539284	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2352T																					ENST00000390649.3:c.1685G>A	p.Arg562His	p.R562H	ENST00000390649	NM_153447.4	562	cGt/cAt	0	not done		probablydamaging	
SMARCC2		inserm.fr	GRCh37	12	56557516	56557516	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1604T																					ENST00000267064.4:c.3602C>T	p.Ala1201Val	p.A1201V	ENST00000267064	NM_003075.3	1201	gCc/gTc	0	not done		benign	
SMARCC2		inserm.fr	GRCh37	12	56566398	56566398	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC923T																					ENST00000267064.4:c.1741A>T	p.Met581Leu	p.M581L	ENST00000267064	NM_003075.3	581	Atg/Ttg	0	not done		benign	
MTMR4		inserm.fr	GRCh37	17	56581720	56581720	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM321T																					ENST00000323456.5:c.1429G>T	p.Val477Phe	p.V477F	ENST00000323456	NM_004687.4	477	Gtt/Ttt	0	validated		probablydamaging	
CCDC85A		inserm.fr	GRCh37	2	56599556	56599556	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000407595.2:c.1395G>A	p.Arg465=	p.R465=	ENST00000407595	NM_001080433.1	465	cgG/cgA	0	not done		synonymous	
PELI2		inserm.fr	GRCh37	14	56645113	56645113	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000267460.4:c.138C>A	p.Tyr46Ter	p.Y46*	ENST00000267460	NM_021255.2	46	taC/taA	0	not done		damaging	
FAM208A		inserm.fr	GRCh37	3	56657421	56657421	+	3_prime_UTR_variant	3'UTR	SNP	G	A	A			CHC1531T																					ENST00000493960.2:c.*395C>T		*132*	ENST00000493960	NM_001112736.1			0	not done		probablydamaging	
ZNF444		inserm.fr	GRCh37	19	56658416	56658416	+	synonymous_variant	Silent	SNP	C	A	A			CHC434T																					ENST00000337080.3:c.136C>A	p.Arg46=	p.R46=	ENST00000337080	NM_018337.3	46	Cgg/Agg	0	validated		synonymous	
ZNF444		inserm.fr	GRCh37	19	56671010	56671010	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000337080.3:c.424G>A	p.Ala142Thr	p.A142T	ENST00000337080	NM_018337.3	142	Gct/Act	0	not done		benign	
CS		inserm.fr	GRCh37	12	56676349	56676349	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1736T																					ENST00000351328.3:c.443C>T	p.Pro148Leu	p.P148L	ENST00000351328	NM_004077.2	148	cCt/cTt	0	not done		probablydamaging	
CS		inserm.fr	GRCh37	12	56677590	56677590	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM671T									Valid												ENST00000351328.3:c.253C>T	p.Leu85Phe	p.L85F	ENST00000351328	NM_004077.2	85	Ctt/Ttt	0	validated		probablydamaging	
TEX14		inserm.fr	GRCh37	17	56679251	56679251	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1744T																					ENST00000240361.8:c.1612C>T	p.Pro538Ser	p.P538S	ENST00000240361		538	Ccc/Tcc	0	validated		probablydamaging	
MT1G		inserm.fr	GRCh37	16	56700882	56700882	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1597T																					ENST00000444837.2:c.95G>T	p.Ser32Ile	p.S32I	ENST00000444837	NM_005950.1	32	aGc/aTc	0	not done		possiblydamaging	
ZSCAN5B		inserm.fr	GRCh37	19	56702324	56702324	+	synonymous_variant	Silent	SNP	G	A	A			CHC1079T																					ENST00000586855.2:c.621C>T	p.Asp207=	p.D207=	ENST00000586855		207	gaC/gaT	0	not done		synonymous	
ZSCAN5B		inserm.fr	GRCh37	19	56704380	56704380	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000586855.2:c.42C>T	p.Pro14=	p.P14=	ENST00000586855		14	ccC/ccT	0	not done		synonymous	
PAN2		inserm.fr	GRCh37	12	56722114	56722114	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC796T																					ENST00000425394.2:c.481C>T	p.Leu161Phe	p.L161F	ENST00000425394	NM_001127460.2	161	Ctc/Ttc	0	validated		benign	
ANO2		inserm.fr	GRCh37	12	5672544	5672544	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB167T																					ENST00000327087.8:c.2918G>T	p.Arg973Leu	p.R973L	ENST00000327087	NM_001278596.1	973	cGg/cTg	0	validated		benign	
ANO2		inserm.fr	GRCh37	12	5672735	5672735	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC2208T																					ENST00000327087.8:c.2728-1G>T		p.X910_splice	ENST00000327087	NM_001278596.1			0	not done		damaging	
ZSCAN5A		inserm.fr	GRCh37	19	56733297	56733297	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC197T									Valid												ENST00000587340.1:c.1138G>T	p.Gly380Cys	p.G380C	ENST00000587340		380	Ggc/Tgc	0	validated		probablydamaging	
ZSCAN5A		inserm.fr	GRCh37	19	56734078	56734078	+	synonymous_variant	Silent	SNP	G	A	A			CHC1603T																					ENST00000587340.1:c.621C>T	p.Asp207=	p.D207=	ENST00000587340		207	gaC/gaT	0	not done		synonymous	
EXOC1		inserm.fr	GRCh37	4	56738014	56738014	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000381295.2:c.965-1G>A		p.X322_splice	ENST00000381295	NM_001024924.1			0	not done		damaging	
STAT2		inserm.fr	GRCh37	12	56745235	56745235	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC121T									Valid												ENST00000314128.4:c.783-1G>T		p.X261_splice	ENST00000314128				0	validated		damaging	
MNS1		inserm.fr	GRCh37	15	56748623	56748623	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1774T																					ENST00000260453.3:c.322G>T	p.Glu108Ter	p.E108*	ENST00000260453	NM_018365.2	108	Gaa/Taa	0	validated		damaging	
APOF		inserm.fr	GRCh37	12	56755024	56755024	+	synonymous_variant	Silent	SNP	C	A	A			CHC703T																					ENST00000398189.3:c.966G>T	p.Gly322=	p.G322=	ENST00000398189	NM_001638.2	322	ggG/ggT	0	not done		synonymous	
ACTBL2		inserm.fr	GRCh37	5	56778246	56778246	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T																					ENST00000423391.1:c.289G>T	p.Val97Leu	p.V97L	ENST00000423391	NM_001017992.3	97	Gtg/Ttg	0	validated		benign	
SEC11C		inserm.fr	GRCh37	18	56807183	56807183	+	start_lost	Translation_Start_Site	SNP	G	A	A			CHC798T																					ENST00000587834.1:c.3G>A	p.Met1?	p.M1?	ENST00000587834	NM_033280.2	1	atG/atA	0	validated		benign	
CEP135		inserm.fr	GRCh37	4	56823502	56823502	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000257287.4:c.586G>A	p.Ala196Thr	p.A196T	ENST00000257287	NM_025009.4	196	Gca/Aca	0	not done		probablydamaging	
NUP93		inserm.fr	GRCh37	16	56852642	56852642	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000308159.5:c.556G>A	p.Ala186Thr	p.A186T	ENST00000308159	NM_014669.4	186	Gcg/Acg	0	not done		benign	
TRIM5		inserm.fr	GRCh37	11	5686107	5686107	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000380034.3:c.1414C>T	p.Pro472Ser	p.P472S	ENST00000380034	NM_033034.2	472	Cct/Tct	0	not done		benign	
LYN		inserm.fr	GRCh37	8	56863032	56863032	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000519728.1:c.299G>A	p.Trp100Ter	p.W100*	ENST00000519728	NM_002350.3	100	tGg/tAg	0	not done		damaging	
NUP93		inserm.fr	GRCh37	16	56866272	56866272	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000308159.5:c.1317G>A	p.Gln439=	p.Q439=	ENST00000308159	NM_014669.4	439	caG/caA	0	not done		synonymous	
CEP135		inserm.fr	GRCh37	4	56877679	56877679	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000257287.4:c.2607G>A	p.Met869Ile	p.M869I	ENST00000257287	NM_025009.4	869	atG/atA	0	not done		benign	
SLC12A3		inserm.fr	GRCh37	16	56899180	56899180	+	synonymous_variant	Silent	SNP	G	A	A			CHC2362T																					ENST00000438926.2:c.33G>A	p.Gly11=	p.G11=	ENST00000438926	NM_001126108.1	11	ggG/ggA	0	validated		synonymous	
EVC2		inserm.fr	GRCh37	4	5690980	5690980	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000344408.5:c.610C>T	p.Leu204Phe	p.L204F	ENST00000344408	NM_147127.4	204	Ctc/Ttc	0	not done		benign	
KIAA1586		inserm.fr	GRCh37	6	56919652	56919652	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM339T																					ENST00000370733.4:c.2355C>A	p.Asn785Lys	p.N785K	ENST00000370733	NM_020931.2	785	aaC/aaA	0	validated		probablydamaging	
SLC12A3		inserm.fr	GRCh37	16	56928517	56928517	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC469T																					ENST00000438926.2:c.2623G>A	p.Gly875Ser	p.G875S	ENST00000438926	NM_001126108.1	875	Ggc/Agc	0	validated		benign	
SLC12A3		inserm.fr	GRCh37	16	56928553	56928553	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000438926.2:c.2659G>A	p.Ala887Thr	p.A887T	ENST00000438926	NM_001126108.1	887	Gcg/Acg	0	not done		possiblydamaging	
LRRC55		inserm.fr	GRCh37	11	56954810	56954810	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000497933.1:c.882G>A	p.Leu294=	p.L294=	ENST00000497933	NM_001005210.2	294	ctG/ctA	0	not done		synonymous	
ZNF667		inserm.fr	GRCh37	19	56972121	56972121	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000504904.3:c.97C>T	p.Pro33Ser	p.P33S	ENST00000504904		33	Ccc/Tcc	0	not done		probablydamaging	
HERPUD1		inserm.fr	GRCh37	16	56973948	56973948	+	synonymous_variant	Silent	SNP	T	A	A			BCM423T																					ENST00000439977.2:c.696T>A	p.Pro232=	p.P232=	ENST00000439977	NM_014685.3	232	ccT/ccA	0	validated		synonymous	
ZNF451		inserm.fr	GRCh37	6	56989658	56989658	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC1085T																					ENST00000370706.4:c.312+1G>A		p.X104_splice	ENST00000370706	NM_001031623.2			0	validated		damaging	
EVC2		inserm.fr	GRCh37	4	5699352	5699352	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB307T																					ENST00000344408.5:c.251C>T	p.Pro84Leu	p.P84L	ENST00000344408	NM_147127.4	84	cCc/cTc	0	validated		probablydamaging	
BAZ2A		inserm.fr	GRCh37	12	56993611	56993611	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1566T									Valid												ENST00000551812.1:c.5053G>T	p.Gly1685Cys	p.G1685C	ENST00000551812	NM_013449.3	1685	Ggt/Tgt	0	validated		probablydamaging	
BAZ2A		inserm.fr	GRCh37	12	56995665	56995665	+	synonymous_variant	Silent	SNP	G	A	A			BCM695T																					ENST00000551812.1:c.3742C>T	p.Leu1248=	p.L1248=	ENST00000551812	NM_013449.3	1248	Ctg/Ttg	0	validated		synonymous	
ZNF451		inserm.fr	GRCh37	6	56997985	56997985	+	synonymous_variant	Silent	SNP	G	A	A			BCM759T																					ENST00000370706.4:c.570G>A	p.Leu190=	p.L190=	ENST00000370706	NM_001031623.2	190	ttG/ttA	0	validated		synonymous	
BAZ2A		inserm.fr	GRCh37	12	56998467	56998467	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000551812.1:c.2871C>T	p.Arg957=	p.R957=	ENST00000551812	NM_013449.3	957	cgC/cgT	0	not done		synonymous	
APLNR		inserm.fr	GRCh37	11	57003567	57003567	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000606794.1:c.912C>T	p.Leu304=	p.L304=	ENST00000606794	NM_005161.4	304	ctC/ctT	0	not done		synonymous	
LONP1		inserm.fr	GRCh37	19	5700935	5700935	+	synonymous_variant	Silent	SNP	G	A	A			CHC434T																					ENST00000360614.3:c.1371C>T	p.Val457=	p.V457=	ENST00000360614	NM_004793.3	457	gtC/gtT	0	validated		synonymous	
ZNF471		inserm.fr	GRCh37	19	57029880	57029880	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC306T									Valid												ENST00000308031.5:c.190T>A	p.Ser64Thr	p.S64T	ENST00000308031	NM_020813.2	64	Tcc/Acc	0	validated		probablydamaging	
PPM1E		inserm.fr	GRCh37	17	57033111	57033111	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC302T																					ENST00000308249.2:c.566G>A	p.Gly189Asp	p.G189D	ENST00000308249	NM_014906.4	189	gGc/gAc	0	validated		benign	
TNKS1BP1		inserm.fr	GRCh37	11	57080553	57080553	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T									Valid												ENST00000532437.1:c.1609G>T	p.Gly537Trp	p.G537W	ENST00000532437		537	Ggg/Tgg	0	validated		probablydamaging	
TNKS1BP1		inserm.fr	GRCh37	11	57081305	57081305	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC433T																					ENST00000532437.1:c.857C>T	p.Ala286Val	p.A286V	ENST00000532437		286	gCc/gTc	0	validated		benign	
NLRC5		inserm.fr	GRCh37	16	57088706	57088706	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262510.6:c.3550G>A	p.Ala1184Thr	p.A1184T	ENST00000262510	NM_032206.4	1184	Gcc/Acc	0	not done		probablydamaging	
NLRC5		inserm.fr	GRCh37	16	57104474	57104474	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000262510.6:c.4611G>A	p.Glu1537=	p.E1537=	ENST00000262510	NM_032206.4	1537	gaG/gaA	0	not done		synonymous	
NACA		inserm.fr	GRCh37	12	57108413	57108413	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000550952.1:c.2259C>T	p.Ser753=	p.S753=	ENST00000550952		753	tcC/tcT	0	validated		synonymous	
PRIM1		inserm.fr	GRCh37	12	57139936	57139936	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC218T																					ENST00000338193.6:c.472G>T	p.Val158Leu	p.V158L	ENST00000338193	NM_000946.2	158	Gta/Tta	0	validated		probablydamaging	
PRG3		inserm.fr	GRCh37	11	57147005	57147005	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000287143.2:c.337C>T	p.Leu113=	p.L113=	ENST00000287143	NM_006093.3	113	Cta/Tta	0	not done		synonymous	
TRIM37		inserm.fr	GRCh37	17	57157132	57157132	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1715T																					ENST00000262294.7:c.599A>T	p.Lys200Met	p.K200M	ENST00000262294	NM_015294.3	200	aAg/aTg	0	not done		probablydamaging	
HSD17B6		inserm.fr	GRCh37	12	57167784	57167784	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000554643.1:c.148G>A	p.Asp50Asn	p.D50N	ENST00000554643		50	Gat/Aat	0	not done		probablydamaging	
ZNF835		inserm.fr	GRCh37	19	57175503	57175503	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC155T																					ENST00000537055.2:c.1064C>T	p.Thr355Met	p.T355M	ENST00000537055	NM_001005850.2	355	aCg/aTg	0	validated		possiblydamaging	
ZNF835		inserm.fr	GRCh37	19	57175550	57175550	+	synonymous_variant	Silent	SNP	G	A	A			CHC205T																					ENST00000537055.2:c.1017C>T	p.Cys339=	p.C339=	ENST00000537055	NM_001005850.2	339	tgC/tgT	0	validated		synonymous	
ZNF835		inserm.fr	GRCh37	19	57176273	57176273	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000537055.2:c.294C>T	p.Arg98=	p.R98=	ENST00000537055	NM_001005850.2	98	cgC/cgT	0	not done		synonymous	
KIAA1211		inserm.fr	GRCh37	4	57180360	57180360	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM257T																					ENST00000504228.1:c.692T>A	p.Leu231Gln	p.L231Q	ENST00000504228		231	cTg/cAg	0	validated		probablydamaging	
KIAA1211		inserm.fr	GRCh37	4	57181477	57181477	+	synonymous_variant	Silent	SNP	C	A	A			BCB109T																					ENST00000504228.1:c.1809C>A	p.Leu603=	p.L603=	ENST00000504228		603	ctC/ctA	0	validated		synonymous	
TCF12		inserm.fr	GRCh37	15	57212146	57212146	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000438423.2:c.35G>A	p.Gly12Glu	p.G12E	ENST00000438423	NM_207037.1	12	gGg/gAg	0	not done		benign	
AASDH		inserm.fr	GRCh37	4	57215582	57215582	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1738T																					ENST00000205214.6:c.2335G>T	p.Asp779Tyr	p.D779Y	ENST00000205214	NM_181806.2	779	Gat/Tat	0	not done		probablydamaging	
SLC43A1		inserm.fr	GRCh37	11	57258738	57258738	+	synonymous_variant	Silent	SNP	G	A	A			CHC2200T																					ENST00000278426.3:c.1152C>T	p.Cys384=	p.C384=	ENST00000278426	NM_003627.5	384	tgC/tgT	0	not done		synonymous	
SLC43A1		inserm.fr	GRCh37	11	57268779	57268779	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1053T									Valid												ENST00000278426.3:c.178C>T	p.Gln60Ter	p.Q60*	ENST00000278426	NM_003627.5	60	Cag/Tag	0	validated		damaging	
SMG8		inserm.fr	GRCh37	17	57288630	57288630	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000543872.2:c.1218G>A	p.Val406=	p.V406=	ENST00000543872		406	gtG/gtA	0	not done		synonymous	
SMG8		inserm.fr	GRCh37	17	57288871	57288871	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000543872.2:c.1459G>A	p.Gly487Arg	p.G487R	ENST00000543872		487	Gga/Aga	0	not done		benign	
APPL1		inserm.fr	GRCh37	3	57294005	57294005	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1053T									Valid												ENST00000288266.3:c.1616G>A	p.Arg539His	p.R539H	ENST00000288266	NM_012096.2	539	cGt/cAt	0	validated		probablydamaging	
EVC		inserm.fr	GRCh37	4	5731045	5731045	+	synonymous_variant	Silent	SNP	G	A	A			CHC465T																					ENST00000382674.2:c.312G>A	p.Pro104=	p.P104=	ENST00000382674		104	ccG/ccA	0	validated		synonymous	
SDR9C7		inserm.fr	GRCh37	12	57323282	57323282	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2141T																					ENST00000293502.1:c.616C>T	p.Arg206Trp	p.R206W	ENST00000293502	NM_148897.2	206	Cgg/Tgg	0	not done		probablydamaging	
PEG3		inserm.fr	GRCh37	19	57326235	57326235	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1568T																					ENST00000326441.9:c.3575C>T	p.Ser1192Phe	p.S1192F	ENST00000326441	NM_006210.2	1192	tCc/tTc	0	not done		possiblydamaging	
PEG3		inserm.fr	GRCh37	19	57326298	57326298	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC917T																					ENST00000326441.9:c.3512C>T	p.Ser1171Phe	p.S1171F	ENST00000326441	NM_006210.2	1171	tCt/tTt	0	validated		probablydamaging	
PEG3		inserm.fr	GRCh37	19	57326552	57326552	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000326441.9:c.3258C>T	p.Asp1086=	p.D1086=	ENST00000326441	NM_006210.2	1086	gaC/gaT	0	not done		synonymous	
PEG3		inserm.fr	GRCh37	19	57326753	57326753	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000326441.9:c.3057C>T	p.Tyr1019=	p.Y1019=	ENST00000326441	NM_006210.2	1019	taC/taT	0	not done		synonymous	
DNAH12		inserm.fr	GRCh37	3	57331012	57331012	+	upstream_gene_variant	5'Flank	SNP	C	A	A			BCB325T									Valid															ENST00000487349	NM_001142733.2			0	validated		probablydamaging	
DNAH12		inserm.fr	GRCh37	3	57335780	57335780	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM339T																					ENST00000344804.4:c.1534C>T	p.Arg512Trp	p.R512W	ENST00000344804		512	Cgg/Tgg	0	validated		probablydamaging	
PEG3		inserm.fr	GRCh37	19	57335822	57335822	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM723T																					ENST00000326441.9:c.202C>T	p.Arg68Ter	p.R68*	ENST00000326441	NM_006210.2	68	Cga/Tga	0	validated		damaging	
RDH16		inserm.fr	GRCh37	12	57346747	57346747	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM723T																					ENST00000398138.3:c.600G>T	p.Lys200Asn	p.K200N	ENST00000398138	NM_003708.3	200	aaG/aaT	0	validated		benign	
RDH16		inserm.fr	GRCh37	12	57348793	57348793	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC451T																					ENST00000398138.3:c.469G>T	p.Gly157Cys	p.G157C	ENST00000398138	NM_003708.3	157	Ggc/Tgc	0	validated		probablydamaging	
RDH16		inserm.fr	GRCh37	12	57348794	57348794	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC451T																					ENST00000398138.3:c.468G>T	p.Arg156Ser	p.R156S	ENST00000398138	NM_003708.3	156	agG/agT	0	validated		possiblydamaging	
RDH16		inserm.fr	GRCh37	12	57351010	57351010	+	synonymous_variant	Silent	SNP	C	A	A			CHC1211T																					ENST00000398138.3:c.237G>T	p.Thr79=	p.T79=	ENST00000398138	NM_003708.3	79	acG/acT	0	not done		synonymous	
PENK		inserm.fr	GRCh37	8	57353909	57353909	+	synonymous_variant	Silent	SNP	G	A	A			CHC1044T																					ENST00000314922.3:c.726C>T	p.Pro242=	p.P242=	ENST00000314922	NM_006211.3	242	ccC/ccT	0	not done		synonymous	
PENK		inserm.fr	GRCh37	8	57353988	57353988	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC197T									Valid												ENST00000314922.3:c.647G>T	p.Arg216Ile	p.R216I	ENST00000314922	NM_006211.3	216	aGa/aTa	0	validated		probablydamaging	
FAAH2		inserm.fr	GRCh37	X	57367727	57367727	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000374900.4:c.646G>A	p.Ala216Thr	p.A216T	ENST00000374900	NM_174912.3	216	Gct/Act	0	not done		possiblydamaging	
FAAH2		inserm.fr	GRCh37	X	57367748	57367748	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1539T																					ENST00000374900.4:c.667G>A	p.Val223Met	p.V223M	ENST00000374900	NM_174912.3	223	Gtg/Atg	0	not done		probablydamaging	
SERPING1		inserm.fr	GRCh37	11	57369554	57369554	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC2103T																					ENST00000278407.4:c.597C>A	p.Tyr199Ter	p.Y199*	ENST00000278407	NM_000062.2	199	taC/taA	0	not done		damaging	
SERPING1		inserm.fr	GRCh37	11	57379396	57379396	+	synonymous_variant	Silent	SNP	C	A	A			CHC1044T																					ENST00000278407.4:c.1236C>A	p.Ile412=	p.I412=	ENST00000278407	NM_000062.2	412	atC/atA	0	not done		synonymous	
GPR182		inserm.fr	GRCh37	12	57389358	57389358	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1745T																					ENST00000300098.1:c.365G>A	p.Gly122Asp	p.G122D	ENST00000300098	NM_007264.3	122	gGc/gAc	0	not done		probablydamaging	
DNAH12		inserm.fr	GRCh37	3	57394056	57394056	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1708T																					ENST00000351747.2:c.6170C>T	p.Pro2057Leu	p.P2057L	ENST00000351747	NM_178504.4	2057	cCt/cTt	0	not done		probablydamaging	
C8B		inserm.fr	GRCh37	1	57399085	57399085	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1061T									Valid												ENST00000371237.4:c.1475C>T	p.Ala492Val	p.A492V	ENST00000371237	NM_000066.3	492	gCa/gTa	0	validated		probablydamaging	
C8B		inserm.fr	GRCh37	1	57411508	57411508	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2115T																					ENST00000371237.4:c.1091C>T	p.Ala364Val	p.A364V	ENST00000371237	NM_000066.3	364	gCc/gTc	0	not done		benign	
CX3CL1		inserm.fr	GRCh37	16	57416780	57416780	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000006053.6:c.1030G>A	p.Gly344Arg	p.G344R	ENST00000006053	NM_002996.3	344	Ggg/Agg	0	not done		probablydamaging	
KIAA1432		inserm.fr	GRCh37	9	5742941	5742941	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1044T																					ENST00000414202.2:c.974G>A	p.Trp325Ter	p.W325*	ENST00000414202	NM_001206557.1	325	tGg/tAg	0	not done		damaging	
GNAS		inserm.fr	GRCh37	20	57429432	57429432	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371100.4:c.1112G>A	p.Gly371Glu	p.G371E	ENST00000371100	NM_001077490.1	371	gGa/gAa	0	not done		benign	
MYO1A		inserm.fr	GRCh37	12	57431660	57431660	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC892T																					ENST00000442789.2:c.1954G>T	p.Gly652Ter	p.G652*	ENST00000442789	NM_001256041.1	652	Gga/Tga	0	not done		damaging	
THEGL		inserm.fr	GRCh37	4	57462786	57462786	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000512175.2:c.1096C>A	p.Pro366Thr	p.P366T	ENST00000512175	NM_001256475.1	366	Ccc/Acc	0	not done			
TMEM194A		inserm.fr	GRCh37	12	57464588	57464588	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1028T																					ENST00000300128.4:c.341A>T	p.Asn114Ile	p.N114I	ENST00000300128	NM_001130963.1	114	aAc/aTc	0	not done		probablydamaging	
COQ9		inserm.fr	GRCh37	16	57485025	57485025	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000262507.6:c.147G>A	p.Glu49=	p.E49=	ENST00000262507	NM_020312.3	49	gaG/gaA	0	not done		synonymous	
DNAH12		inserm.fr	GRCh37	3	57493505	57493505	+	synonymous_variant	Silent	SNP	G	A	A			CHC1720T																					ENST00000311202.6:c.762C>T	p.Asn254=	p.N254=	ENST00000311202	NM_198564.3	254	aaC/aaT	0	not done		synonymous	
DOK4		inserm.fr	GRCh37	16	57509853	57509853	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1602T																					ENST00000340099.4:c.83G>T	p.Trp28Leu	p.W28L	ENST00000340099	NM_018110.3	28	tGg/tTg	0	not done		probablydamaging	
BTBD18		inserm.fr	GRCh37	11	57511952	57511952	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000422652.1:c.1793C>T	p.Thr598Ile	p.T598I	ENST00000422652	NM_001145101.1	598	aCc/aTc	0	not done		benign	
BTBD18		inserm.fr	GRCh37	11	57513537	57513537	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1591T																					ENST00000422652.1:c.208C>T	p.Gln70Ter	p.Q70*	ENST00000422652	NM_001145101.1	70	Cag/Tag	0	not done		damaging	
LRP1		inserm.fr	GRCh37	12	57556704	57556704	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000243077.3:c.2468G>A	p.Gly823Glu	p.G823E	ENST00000243077	NM_002332.2	823	gGg/gAg	0	not done		benign	
CCDC102A		inserm.fr	GRCh37	16	57562770	57562770	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB167T																					ENST00000258214.2:c.320A>T	p.Lys107Ile	p.K107I	ENST00000258214	NM_033212.3	107	aAa/aTa	0	validated		probablydamaging	
NELFCD		inserm.fr	GRCh37	20	57566492	57566492	+	synonymous_variant	Silent	SNP	C	A	A			BCM337T																					ENST00000602795.1:c.1134C>A	p.Thr378=	p.T378=	ENST00000602795	NM_198976.2	378	acC/acA	0	validated		synonymous	
CTNND1		inserm.fr	GRCh37	11	57571197	57571197	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1052T									Valid												ENST00000399050.4:c.1525G>A	p.Glu509Lys	p.E509K	ENST00000399050	NM_001085458.1	509	Gag/Aag	0	validated		probablydamaging	
LRP1		inserm.fr	GRCh37	12	57574964	57574964	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000243077.3:c.5552G>A	p.Ser1851Asn	p.S1851N	ENST00000243077	NM_002332.2	1851	aGt/aAt	0	not done		probablydamaging	
LRP1		inserm.fr	GRCh37	12	57577575	57577575	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1207T																					ENST00000243077.3:c.5812T>A	p.Trp1938Arg	p.W1938R	ENST00000243077	NM_002332.2	1938	Tgg/Agg	0	not done		probablydamaging	
CTSZ		inserm.fr	GRCh37	20	57582173	57582173	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2141T																					ENST00000217131.5:c.11G>T	p.Arg4Leu	p.R4L	ENST00000217131	NM_001336.3	4	cGc/cTc	0	validated		benign	
LRP1		inserm.fr	GRCh37	12	57591124	57591124	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000243077.3:c.9119G>A	p.Arg3040His	p.R3040H	ENST00000243077	NM_002332.2	3040	cGc/cAc	0	validated		probablydamaging	
LRP1		inserm.fr	GRCh37	12	57603536	57603536	+	synonymous_variant	Silent	SNP	C	A	A			CHC1720T																					ENST00000243077.3:c.12324C>A	p.Ile4108=	p.I4108=	ENST00000243077	NM_002332.2	4108	atC/atA	0	not done		synonymous	
LRP1		inserm.fr	GRCh37	12	57603876	57603876	+	synonymous_variant	Silent	SNP	C	A	A			BCM543T																					ENST00000243077.3:c.12504C>A	p.Val4168=	p.V4168=	ENST00000243077	NM_002332.2	4168	gtC/gtA	0	validated		synonymous	
DENND6A		inserm.fr	GRCh37	3	57616443	57616443	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC097T																					ENST00000311128.5:c.1516C>T	p.Arg506Trp	p.R506W	ENST00000311128	NM_152678.2	506	Cgg/Tgg	0	not done		probablydamaging	
FAM208B		inserm.fr	GRCh37	10	5762885	5762885	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000328090.5:c.98G>A	p.Cys33Tyr	p.C33Y	ENST00000328090	NM_017782.4	33	tGt/tAt	0	not done		probablydamaging	
USP29		inserm.fr	GRCh37	19	57640248	57640248	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1592T																					ENST00000254181.4:c.205C>A	p.Gln69Lys	p.Q69K	ENST00000254181	NM_020903.2	69	Caa/Aaa	0	not done		benign	
USP29		inserm.fr	GRCh37	19	57640867	57640867	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM397T																					ENST00000254181.4:c.824C>A	p.Pro275His	p.P275H	ENST00000254181	NM_020903.2	275	cCt/cAt	0	validated		probablydamaging	
STAC3		inserm.fr	GRCh37	12	57642988	57642988	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM703T																					ENST00000332782.2:c.170G>T	p.Gly57Val	p.G57V	ENST00000332782	NM_145064.1	57	gGt/gTt	0	validated		possiblydamaging	
DHX40		inserm.fr	GRCh37	17	57644155	57644155	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1182T																					ENST00000251241.4:c.280G>A	p.Gly94Arg	p.G94R	ENST00000251241	NM_024612.4	94	Ggg/Agg	0	not done		damaging	
ZIM3		inserm.fr	GRCh37	19	57646310	57646310	+	synonymous_variant	Silent	SNP	G	A	A			BCM703T																					ENST00000269834.1:c.1395C>T	p.His465=	p.H465=	ENST00000269834	NM_052882.1	465	caC/caT	0	validated		synonymous	
DENND6A		inserm.fr	GRCh37	3	57658156	57658156	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1566T									Valid												ENST00000311128.5:c.247C>T	p.Pro83Ser	p.P83S	ENST00000311128	NM_152678.2	83	Cct/Tct	0	validated		probablydamaging	
R3HDM2		inserm.fr	GRCh37	12	57660558	57660558	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1600T																					ENST00000347140.3:c.2045C>T	p.Ser682Phe	p.S682F	ENST00000347140		682	tCt/tTt	0	not done		probablydamaging	
SPINK2		inserm.fr	GRCh37	4	57686745	57686745	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1763T																					ENST00000248701.4:c.56C>T	p.Ala19Val	p.A19V	ENST00000248701	NM_021114.3	19	gCc/gTc	0	not done		possiblydamaging	
GPR56		inserm.fr	GRCh37	16	57695795	57695795	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000388812.4:c.1869G>A	p.Trp623Ter	p.W623*	ENST00000388812		623	tgG/tgA	0	not done		damaging	
EXOC5		inserm.fr	GRCh37	14	57698226	57698226	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	A	A			CHC1041T																					ENST00000413566.2:c.1146A>T	p.Gly382=	p.G382=	ENST00000413566	NM_006544.3	382	ggA/ggT	0	validated		synonymous	
CATSPERD		inserm.fr	GRCh37	19	5771006	5771006	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC121T																					ENST00000381624.3:c.1686C>A	p.His562Gln	p.H562Q	ENST00000381624	NM_152784.3	562	caC/caA	0	validated		probablydamaging	
CLTC		inserm.fr	GRCh37	17	57721845	57721845	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC451T																					ENST00000269122.3:c.250+1G>A		p.X84_splice	ENST00000269122	NM_004859.3			0	validated		possiblydamaging	
CGNL1		inserm.fr	GRCh37	15	57731423	57731423	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000281282.5:c.1226G>A	p.Arg409Lys	p.R409K	ENST00000281282	NM_032866.4	409	aGg/aAg	0	not done		benign	
CGNL1		inserm.fr	GRCh37	15	57732596	57732596	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000281282.5:c.1624G>A	p.Gly542Ser	p.G542S	ENST00000281282	NM_032866.4	542	Ggc/Agc	0	not done		probablydamaging	
CCDC135		inserm.fr	GRCh37	16	57736043	57736043	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000360716.3:c.699+1G>A		p.X233_splice	ENST00000360716				0	not done		damaging	
AP5M1		inserm.fr	GRCh37	14	57741454	57741454	+	synonymous_variant	Silent	SNP	G	A	A			CHC1534T																					ENST00000261558.3:c.567G>A	p.Val189=	p.V189=	ENST00000261558	NM_018229.3	189	gtG/gtA	0	validated		synonymous	
AURKC		inserm.fr	GRCh37	19	57742653	57742653	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000302804.7:c.37G>A	p.Ala13Thr	p.A13T	ENST00000302804	NM_001015878.1	13	Gct/Act	0	not done		benign	
CLTC		inserm.fr	GRCh37	17	57758700	57758700	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1600T																					ENST00000269122.3:c.3110G>A	p.Arg1037His	p.R1037H	ENST00000269122	NM_004859.3	1037	cGt/cAt	0	not done		probablydamaging	
OR52N4		inserm.fr	GRCh37	11	5776508	5776508	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2029T																					ENST00000317254.3:c.538T>A	p.Tyr180Asn	p.Y180N	ENST00000317254	NM_001005175.3	180	Tac/Aac	0	not done		probablydamaging	
ZNF831		inserm.fr	GRCh37	20	57766296	57766296	+	synonymous_variant	Silent	SNP	C	A	A			CHC736T																					ENST00000371030.2:c.222C>A	p.Arg74=	p.R74=	ENST00000371030	NM_178457.2	74	cgC/cgA	0	validated		synonymous	
ZNF831		inserm.fr	GRCh37	20	57767148	57767148	+	synonymous_variant	Silent	SNP	G	A	A			CHC1720T																					ENST00000371030.2:c.1074G>A	p.Ala358=	p.A358=	ENST00000371030	NM_178457.2	358	gcG/gcA	0	not done		synonymous	
ZNF831		inserm.fr	GRCh37	20	57767819	57767819	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB109T																					ENST00000371030.2:c.1745C>A	p.Ala582Glu	p.A582E	ENST00000371030	NM_178457.2	582	gCa/gAa	0	validated		benign	
ZNF831		inserm.fr	GRCh37	20	57768234	57768234	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2141T																					ENST00000371030.2:c.2160T>A	p.Ser720Arg	p.S720R	ENST00000371030	NM_178457.2	720	agT/agA	0	not done		benign	
ZNF831		inserm.fr	GRCh37	20	57769211	57769211	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371030.2:c.3137G>A	p.Gly1046Glu	p.G1046E	ENST00000371030	NM_178457.2	1046	gGg/gAg	0	not done		benign	
ZNF831		inserm.fr	GRCh37	20	57769213	57769213	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1745T																					ENST00000371030.2:c.3139G>A	p.Ala1047Thr	p.A1047T	ENST00000371030	NM_178457.2	1047	Gct/Act	0	not done		benign	
VMP1		inserm.fr	GRCh37	17	57816282	57816282	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262291.4:c.388G>A	p.Gly130Arg	p.G130R	ENST00000262291	NM_030938.3	130	Ggg/Agg	0	not done		probablydamaging	
NOA1		inserm.fr	GRCh37	4	57829642	57829642	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1739T																					ENST00000264230.4:c.2071A>T	p.Lys691Ter	p.K691*	ENST00000264230	NM_032313.2	691	Aag/Tag	0	not done		damaging	
PRR22		inserm.fr	GRCh37	19	5783466	5783466	+	synonymous_variant	Silent	SNP	C	A	A			CHC314T																					ENST00000419421.2:c.792G>T	p.Leu264=	p.L264=	ENST00000419421	NM_001134316.1	264	ctG/ctT	0	validated		synonymous	
SLMAP		inserm.fr	GRCh37	3	57847813	57847813	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000295951.3:c.966G>A	p.Lys322=	p.K322=	ENST00000295951		322	aaG/aaA	0	not done		damaging	
GLI1		inserm.fr	GRCh37	12	57859016	57859016	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC801T																					ENST00000228682.2:c.512G>A	p.Arg171Gln	p.R171Q	ENST00000228682	NM_005269.2	171	cGg/cAg	0	not done		probablydamaging	
GLI1		inserm.fr	GRCh37	12	57859584	57859584	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000228682.2:c.638G>A	p.Gly213Glu	p.G213E	ENST00000228682	NM_005269.2	213	gGg/gAg	0	not done		probablydamaging	
IMPAD1		inserm.fr	GRCh37	8	57878766	57878766	+	synonymous_variant	Silent	SNP	G	A	A			CHC2112T																					ENST00000262644.4:c.792C>T	p.Ile264=	p.I264=	ENST00000262644	NM_017813.4	264	atC/atT	0	not done		synonymous	
SLMAP		inserm.fr	GRCh37	3	57882660	57882660	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000295951.3:c.1399+1G>A		p.X467_splice	ENST00000295951				0	not done		damaging	
OR9I1		inserm.fr	GRCh37	11	57886538	57886538	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1738T																					ENST00000302610.1:c.379C>T	p.Arg127Cys	p.R127C	ENST00000302610	NM_001005211.1	127	Cgc/Tgc	0	not done		probablydamaging	
OR9I1		inserm.fr	GRCh37	11	57886829	57886829	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1616T																					ENST00000302610.1:c.88G>T	p.Val30Leu	p.V30L	ENST00000302610	NM_001005211.1	30	Gtg/Ttg	0	not done		benign	
POLR2B		inserm.fr	GRCh37	4	57891613	57891613	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000381227.1:c.3149G>A	p.Arg1050His	p.R1050H	ENST00000381227		1050	cGt/cAt	0	validated		probablydamaging	
EDN3		inserm.fr	GRCh37	20	57896245	57896245	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000337938.2:c.539G>A	p.Ser180Asn	p.S180N	ENST00000337938	NM_207034.1	180	aGc/aAc	0	not done		benign	
EDN3		inserm.fr	GRCh37	20	57897491	57897491	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000337938.2:c.588+19G>A		*196*	ENST00000337938	NM_207034.1			0	not done			
IMPAD1		inserm.fr	GRCh37	8	57905812	57905812	+	synonymous_variant	Silent	SNP	C	A	A			CHC2216T																					ENST00000262644.4:c.333G>T	p.Val111=	p.V111=	ENST00000262644	NM_017813.4	111	gtG/gtT	0	not done		synonymous	
FAM208B		inserm.fr	GRCh37	10	5791171	5791171	+	synonymous_variant	Silent	SNP	T	A	A			CHC1209T																					ENST00000328090.5:c.5787T>A	p.Ser1929=	p.S1929=	ENST00000328090	NM_017782.4	1929	tcT/tcA	0	not done		synonymous	
GCOM1		inserm.fr	GRCh37	15	57918084	57918084	+	synonymous_variant	Silent	SNP	C	A	A			CHC2351T																					ENST00000267853.5:c.519C>A	p.Gly173=	p.G173=	ENST00000267853		173	ggC/ggA	0	not done		synonymous	
OR9Q2		inserm.fr	GRCh37	11	57958284	57958284	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC805T																					ENST00000311591.3:c.322G>A	p.Ala108Thr	p.A108T	ENST00000311591	NM_001005283.2	108	Gcc/Acc	0	not done		possiblydamaging	
OR1S2		inserm.fr	GRCh37	11	57970748	57970748	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000302592.6:c.906C>T	p.Ile302=	p.I302=	ENST00000302592	NM_001004459.1	302	atC/atT	0	not done		synonymous	
OR1S1		inserm.fr	GRCh37	11	57982666	57982666	+	synonymous_variant	Silent	SNP	G	A	A			CHC1754T																					ENST00000309433.6:c.450G>A	p.Arg150=	p.R150=	ENST00000309433	NM_001004458.1	150	cgG/cgA	0	not done		synonymous	
PIP4K2C		inserm.fr	GRCh37	12	57992903	57992903	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1732T																					ENST00000354947.5:c.569G>A	p.Arg190Gln	p.R190Q	ENST00000354947		190	cGa/cAa	0	not done		probablydamaging	
CNGB1		inserm.fr	GRCh37	16	57994789	57994789	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1556T																					ENST00000251102.8:c.489G>T	p.Glu163Asp	p.E163D	ENST00000251102	NM_001297.4	163	gaG/gaT	0	not done		possiblydamaging	
OR10Q1		inserm.fr	GRCh37	11	57995414	57995414	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000316770.2:c.934C>T	p.Arg312Cys	p.R312C	ENST00000316770	NM_001004471.2	312	Cgt/Tgt	0	validated		benign	
DTX3		inserm.fr	GRCh37	12	58000674	58000674	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000548198.1:c.28G>A	p.Ala10Thr	p.A10T	ENST00000548198		10	Gcc/Acc	0	not done		possiblydamaging	
POLR2M		inserm.fr	GRCh37	15	58001080	58001080	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000299638.3:c.282G>A	p.Val94=	p.V94=	ENST00000299638	NM_015532.3	94	gtG/gtA	0	not done		synonymous	
DTX3		inserm.fr	GRCh37	12	58002376	58002376	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000548198.1:c.824G>A	p.Gly275Asp	p.G275D	ENST00000548198		275	gGc/gAc	0	not done		probablydamaging	
EVC		inserm.fr	GRCh37	4	5800341	5800341	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC451T																					ENST00000382674.2:c.2126G>A	p.Arg709Gln	p.R709Q	ENST00000382674		709	cGg/cAg	0	validated		probablydamaging	
ZNF419		inserm.fr	GRCh37	19	58004551	58004551	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000424930.2:c.629G>A	p.Gly210Glu	p.G210E	ENST00000424930	NM_024691.3	210	gGg/gAg	0	not done		probablydamaging	
ARHGEF25		inserm.fr	GRCh37	12	58010652	58010652	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000333972.7:c.1835C>A	p.Ala612Asp	p.A612D	ENST00000333972	NM_001111270.2	612	gCc/gAc	0	not done		probablydamaging	
ZNF773		inserm.fr	GRCh37	19	58017802	58017802	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000282292.4:c.339G>A	p.Gln113=	p.Q113=	ENST00000282292	NM_198542.1	113	caG/caA	0	not done		synonymous	
ZNF319		inserm.fr	GRCh37	16	58030900	58030900	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1207T																					ENST00000299237.2:c.1270G>T	p.Ala424Ser	p.A424S	ENST00000299237	NM_020807.1	424	Gcc/Tcc	0	not done		benign	
ZNF319		inserm.fr	GRCh37	16	58031512	58031512	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1751T																					ENST00000299237.2:c.658C>T	p.His220Tyr	p.H220Y	ENST00000299237	NM_020807.1	220	Cat/Tat	0	not done		probablydamaging	
SLC35F4		inserm.fr	GRCh37	14	58033254	58033254	+	synonymous_variant	Silent	SNP	C	A	A			CHC1035T																					ENST00000339762.6:c.1263G>T	p.Val421=	p.V421=	ENST00000339762		421	gtG/gtT	0	validated		synonymous	
SLC35F4		inserm.fr	GRCh37	14	58033275	58033275	+	synonymous_variant	Silent	SNP	G	A	A			CHC1041T																					ENST00000339762.6:c.1242C>T	p.Asn414=	p.N414=	ENST00000339762		414	aaC/aaT	0	validated		synonymous	
ZNF550		inserm.fr	GRCh37	19	58058970	58058970	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2099T																					ENST00000506609.2:c.519G>T	p.Arg173Ser	p.R173S	ENST00000506609		173	agG/agT	0	not done		probablydamaging	
FLNB		inserm.fr	GRCh37	3	58092529	58092529	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2099T																					ENST00000490882.1:c.1870G>A	p.Asp624Asn	p.D624N	ENST00000490882	NM_001164317.1	624	Gac/Aac	0	not done		benign	
OR52N1		inserm.fr	GRCh37	11	5809685	5809685	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC736T																					ENST00000317078.1:c.362C>T	p.Ala121Val	p.A121V	ENST00000317078	NM_001001913.1	121	gCc/gTc	0	validated		benign	
FLNB		inserm.fr	GRCh37	3	58107212	58107212	+	synonymous_variant	Silent	SNP	G	A	A			CHC469T																					ENST00000490882.1:c.3108G>A	p.Leu1036=	p.L1036=	ENST00000490882	NM_001164317.1	1036	ctG/ctA	0	validated		synonymous	
NLGN4X		inserm.fr	GRCh37	X	5811340	5811340	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1708T																					ENST00000381095.3:c.1969G>T	p.Gly657Trp	p.G657W	ENST00000381095	NM_181332.1	657	Ggg/Tgg	0	not done		benign	
FLNB		inserm.fr	GRCh37	3	58120481	58120481	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000490882.1:c.4746G>A	p.Leu1582=	p.L1582=	ENST00000490882	NM_001164317.1	1582	ctG/ctA	0	not done		synonymous	
AGAP2		inserm.fr	GRCh37	12	58120537	58120537	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000547588.1:c.3377C>T	p.Thr1126Met	p.T1126M	ENST00000547588	NM_001122772.2	1126	aCg/aTg	0	not done		probablydamaging	
AGAP2		inserm.fr	GRCh37	12	58131119	58131119	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC434T																					ENST00000547588.1:c.911C>T	p.Ala304Val	p.A304V	ENST00000547588	NM_001122772.2	304	gCt/gTt	0	validated		benign	
AGAP2		inserm.fr	GRCh37	12	58131762	58131762	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000547588.1:c.268C>T	p.Pro90Ser	p.P90S	ENST00000547588	NM_001122772.2	90	Ccc/Tcc	0	not done		benign	
METTL21B		inserm.fr	GRCh37	12	58168447	58168447	+	intron_variant	Intron	SNP	G	A	A			CHC1209T																					ENST00000300209.8:c.289+1536G>A		*97*	ENST00000300209	NM_015433.2			0	not done			
ZSCAN4		inserm.fr	GRCh37	19	58189716	58189716	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1747T																					ENST00000318203.5:c.745G>A	p.Val249Ile	p.V249I	ENST00000318203	NM_152677.2	249	Gtc/Atc	0	not done		benign	
OR5B2		inserm.fr	GRCh37	11	58190635	58190635	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000302581.2:c.100C>T	p.Leu34Phe	p.L34F	ENST00000302581	NM_001005566.2	34	Ctc/Ttc	0	not done		benign	
OR5B2		inserm.fr	GRCh37	11	58190719	58190719	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000302581.2:c.16G>T	p.Glu6Ter	p.E6*	ENST00000302581	NM_001005566.2	6	Gaa/Taa	0	not done		damaging	
ZNF551		inserm.fr	GRCh37	19	58198678	58198678	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC303T									Valid												ENST00000282296.5:c.1035C>A	p.Ser345Arg	p.S345R	ENST00000282296		345	agC/agA	0	validated		probablydamaging	
PCDH17		inserm.fr	GRCh37	13	58208192	58208192	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1035T									Valid												ENST00000377918.3:c.1512C>A	p.Asn504Lys	p.N504K	ENST00000377918	NM_001040429.2	504	aaC/aaA	0	validated		probablydamaging	
NLGN4X		inserm.fr	GRCh37	X	5821339	5821339	+	synonymous_variant	Silent	SNP	G	A	A			CHC1539T																					ENST00000381095.3:c.1380C>T	p.His460=	p.H460=	ENST00000381095	NM_181332.1	460	caC/caT	0	not done		synonymous	
CA4		inserm.fr	GRCh37	17	58235426	58235426	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000300900.4:c.518G>A	p.Gly173Glu	p.G173E	ENST00000300900	NM_000717.3	173	gGa/gAa	0	not done		probablydamaging	
PDE4D		inserm.fr	GRCh37	5	58272251	58272251	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC218T																					ENST00000340635.6:c.1756A>T	p.Lys586Ter	p.K586*	ENST00000340635	NM_001104631.1	586	Aag/Tag	0	validated		damaging	
NRTN		inserm.fr	GRCh37	19	5827789	5827789	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM683T																					ENST00000303212.2:c.199G>A	p.Ala67Thr	p.A67T	ENST00000303212	NM_004558.3	67	Gcg/Acg	0	validated		possiblydamaging	
ZNF586		inserm.fr	GRCh37	19	58290306	58290306	+	synonymous_variant	Silent	SNP	T	A	A			CHC2034T																					ENST00000396154.2:c.351T>A	p.Thr117=	p.T117=	ENST00000396154	NM_017652.3	117	acT/acA	0	not done		synonymous	
PHACTR3		inserm.fr	GRCh37	20	58318224	58318224	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1530T																					ENST00000371015.1:c.181C>A	p.Pro61Thr	p.P61T	ENST00000371015	NM_080672.4	61	Cct/Act	0	not done		probablydamaging	
FUT6		inserm.fr	GRCh37	19	5831931	5831931	+	synonymous_variant	Silent	SNP	G	A	A			CHC2110Tbis																					ENST00000318336.4:c.648C>T	p.Leu216=	p.L216=	ENST00000318336	NM_000150.2	216	ctC/ctT	0	not done		synonymous	
SOX11		inserm.fr	GRCh37	2	5833686	5833686	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC451T																					ENST00000322002.3:c.833G>A	p.Ser278Asn	p.S278N	ENST00000322002	NM_003108.3	278	aGc/aAc	0	validated		probablydamaging	
ZFP91		inserm.fr	GRCh37	11	58346941	58346941	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1616T																					ENST00000316059.6:c.187G>A	p.Ala63Thr	p.A63T	ENST00000316059	NM_001197051.1	63	Gcc/Acc	0	validated		probablydamaging	
ZNF587B		inserm.fr	GRCh37	19	58352878	58352878	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1774T																					ENST00000442832.4:c.836T>A	p.Phe279Tyr	p.F279Y	ENST00000442832	NM_001204818.1	279	tTt/tAt	0	validated			
ZFP91		inserm.fr	GRCh37	11	58377406	58377406	+	synonymous_variant	Silent	SNP	T	A	A			CHC912T																					ENST00000316059.6:c.474T>A	p.Ser158=	p.S158=	ENST00000316059	NM_001197051.1	158	tcT/tcA	0	validated		synonymous	
USP32		inserm.fr	GRCh37	17	58378965	58378965	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000300896.4:c.287C>T	p.Ala96Val	p.A96V	ENST00000300896	NM_032582.3	96	gCa/gTa	0	not done		benign	
PHACTR3		inserm.fr	GRCh37	20	58381190	58381190	+	synonymous_variant	Silent	SNP	C	A	A			CHC1725T																					ENST00000371015.1:c.1269C>A	p.Pro423=	p.P423=	ENST00000371015	NM_080672.4	423	ccC/ccA	0	not done		synonymous	
CRMP1		inserm.fr	GRCh37	4	5841384	5841384	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB111T									Valid												ENST00000324989.7:c.1175C>T	p.Pro392Leu	p.P392L	ENST00000324989	NM_001014809.1	392	cCc/cTc	0	validated		probablydamaging	
ZNF418		inserm.fr	GRCh37	19	58437721	58437721	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC2110Tbis																					ENST00000396147.1:c.1828C>T	p.Gln610Ter	p.Q610*	ENST00000396147	NM_133460.1	610	Cag/Tag	0	not done		damaging	
ZNF418		inserm.fr	GRCh37	19	58438599	58438599	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1731T																					ENST00000396147.1:c.950G>T	p.Gly317Val	p.G317V	ENST00000396147	NM_133460.1	317	gGa/gTa	0	not done		probablydamaging	
SYCP2		inserm.fr	GRCh37	20	58455523	58455523	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1717T																					ENST00000357552.3:c.2776A>T	p.Ile926Leu	p.I926L	ENST00000357552		926	Ata/Tta	0	not done		benign	
PPP1R3D		inserm.fr	GRCh37	20	58514325	58514325	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000370996.3:c.662C>T	p.Ala221Val	p.A221V	ENST00000370996	NM_006242.3	221	gCg/gTg	0	validated		probablydamaging	
PPP1R3D		inserm.fr	GRCh37	20	58514473	58514473	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000370996.3:c.514C>T	p.Leu172=	p.L172=	ENST00000370996	NM_006242.3	172	Ctg/Ttg	0	not done		synonymous	
TCF15		inserm.fr	GRCh37	20	585294	585294	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000246080.3:c.541C>T	p.Leu181=	p.L181=	ENST00000246080	NM_004609.3	181	Ctg/Ttg	0	not done		synonymous	
ZSCAN1		inserm.fr	GRCh37	19	58564913	58564913	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC302T																					ENST00000282326.1:c.721C>A	p.Pro241Thr	p.P241T	ENST00000282326	NM_182572.3	241	Cca/Aca	0	validated		probablydamaging	
ZSCAN1		inserm.fr	GRCh37	19	58565058	58565058	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000282326.1:c.866G>A	p.Gly289Glu	p.G289E	ENST00000282326	NM_182572.3	289	gGg/gAg	0	not done		benign	
CRMP1		inserm.fr	GRCh37	4	5857925	5857925	+	synonymous_variant	Silent	SNP	G	A	A			CHC429T																					ENST00000324989.7:c.765C>T	p.Ile255=	p.I255=	ENST00000324989	NM_001014809.1	255	atC/atT	0	validated		synonymous	
CNOT1		inserm.fr	GRCh37	16	58581155	58581155	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC218T																					ENST00000317147.5:c.3685C>T	p.Gln1229Ter	p.Q1229*	ENST00000317147	NM_016284.4	1229	Caa/Taa	0	validated		damaging	
ZSCAN18		inserm.fr	GRCh37	19	58596463	58596463	+	synonymous_variant	Silent	SNP	G	A	A			BCM371T																					ENST00000600404.1:c.1290C>T	p.Pro430=	p.P430=	ENST00000600404	NM_001145542.1	430	ccC/ccT	0	validated		synonymous	
CDH26		inserm.fr	GRCh37	20	58608726	58608726	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000244047.5:c.2554G>A	p.Gly852Ser	p.G852S	ENST00000244047		852	Ggc/Agc	0	not done		unknown	
CNOT1		inserm.fr	GRCh37	16	58616751	58616751	+	synonymous_variant	Silent	SNP	T	A	A			CHC1044T																					ENST00000317147.5:c.990A>T	p.Gly330=	p.G330=	ENST00000317147	NM_016284.4	330	ggA/ggT	0	not done		synonymous	
ZNF329		inserm.fr	GRCh37	19	58640697	58640697	+	synonymous_variant	Silent	SNP	C	A	A			CHC1736T																					ENST00000598312.1:c.174G>T	p.Gly58=	p.G58=	ENST00000598312	NM_024620.3	58	ggG/ggT	0	not done		synonymous	
SLC38A7		inserm.fr	GRCh37	16	58701310	58701310	+	synonymous_variant	Silent	SNP	G	A	A			BCM545T																					ENST00000570101.1:c.1368C>T	p.Ile456=	p.I456=	ENST00000570101		456	atC/atT	0	validated		synonymous	
PPM1D		inserm.fr	GRCh37	17	58734131	58734131	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1754T																					ENST00000305921.3:c.1189G>A	p.Asp397Asn	p.D397N	ENST00000305921	NM_003620.3	397	Gac/Aac	0	not done		possiblydamaging	
OR52E8		inserm.fr	GRCh37	11	5878060	5878060	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000537935.1:c.873C>T	p.Ala291=	p.A291=	ENST00000537935	NM_001005168.1	291	gcC/gcT	0	not done		synonymous	
ZNF8		inserm.fr	GRCh37	19	58806076	58806076	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC909T																					ENST00000196548.5:c.902T>A	p.Val301Asp	p.V301D	ENST00000196548		301	gTc/gAc	0	not done		probablydamaging	
A1BG		inserm.fr	GRCh37	19	58863807	58863807	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM723T																					ENST00000263100.3:c.455G>T	p.Arg152Leu	p.R152L	ENST00000263100	NM_130786.3	152	cGg/cTg	0	validated		benign	
A1BG		inserm.fr	GRCh37	19	58864331	58864331	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2127T																					ENST00000263100.3:c.303G>T	p.Trp101Cys	p.W101C	ENST00000263100	NM_130786.3	101	tgG/tgT	0	not done		probablydamaging	
ZNF497		inserm.fr	GRCh37	19	58868552	58868552	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000311044.3:c.450C>T	p.Ser150=	p.S150=	ENST00000311044	NM_198458.2	150	agC/agT	0	not done		synonymous	
ZNF837		inserm.fr	GRCh37	19	58879887	58879887	+	synonymous_variant	Silent	SNP	G	A	A			CHC1611T																					ENST00000427624.2:c.813C>T	p.Tyr271=	p.Y271=	ENST00000427624		271	taC/taT	0	not done		synonymous	
ZNF837		inserm.fr	GRCh37	19	58879911	58879911	+	synonymous_variant	Silent	SNP	G	A	A			CHC2112T																					ENST00000427624.2:c.789C>T	p.Pro263=	p.P263=	ENST00000427624		263	ccC/ccT	0	not done		synonymous	
TMEM200C		inserm.fr	GRCh37	18	5891456	5891456	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM375T									Valid												ENST00000581347.2:c.607C>T	p.Leu203Phe	p.L203F	ENST00000581347		203	Ctc/Ttc	0	validated		probablydamaging	
ADAM10		inserm.fr	GRCh37	15	58938315	58938315	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB167T																					ENST00000260408.3:c.674A>T	p.Tyr225Phe	p.Y225F	ENST00000260408	NM_001110.2	225	tAt/tTt	0	validated		benign	
CRMP1		inserm.fr	GRCh37	4	5894599	5894599	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1566T																					ENST00000324989.7:c.98G>T	p.Gly33Val	p.G33V	ENST00000324989	NM_001014809.1	33	gGc/gTc	0	not done		probablydamaging	
KIAA0586		inserm.fr	GRCh37	14	58958884	58958884	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000354386.6:c.4040G>A	p.Gly1347Glu	p.G1347E	ENST00000354386	NM_001244189.1	1347	gGg/gAg	0	not done		probablydamaging	
MPEG1		inserm.fr	GRCh37	11	58979628	58979628	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000361050.3:c.711C>T	p.Thr237=	p.T237=	ENST00000361050	NM_001039396.1	237	acC/acT	0	validated		synonymous	
OMA1		inserm.fr	GRCh37	1	59004581	59004581	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1079T																					ENST00000371226.3:c.386C>T	p.Ser129Phe	p.S129F	ENST00000371226	NM_145243.3	129	tCc/tTc	0	not done		benign	
CHGB		inserm.fr	GRCh37	20	5903847	5903847	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1756T																					ENST00000378961.4:c.1057G>A	p.Ala353Thr	p.A353T	ENST00000378961	NM_001819.2	353	Gcc/Acc	0	not done		probablydamaging	
TACSTD2		inserm.fr	GRCh37	1	59041969	59041969	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371225.2:c.860C>T	p.Ala287Val	p.A287V	ENST00000371225	NM_002353.2	287	gCc/gTc	0	not done		possiblydamaging	
CHGB		inserm.fr	GRCh37	20	5904205	5904205	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1738T																					ENST00000378961.4:c.1415T>A	p.Leu472His	p.L472H	ENST00000378961	NM_001819.2	472	cTc/cAc	0	not done		possiblydamaging	
TRIM28		inserm.fr	GRCh37	19	59058744	59058744	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000253024.5:c.588G>A	p.Gly196=	p.G196=	ENST00000253024	NM_005762.2	196	ggG/ggA	0	not done		damaging	
FAM110B		inserm.fr	GRCh37	8	59059118	59059118	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000361488.3:c.329G>A	p.Gly110Asp	p.G110D	ENST00000361488	NM_147189.2	110	gGc/gAc	0	not done		benign	
DACT1		inserm.fr	GRCh37	14	59112859	59112859	+	synonymous_variant	Silent	SNP	G	A	A			CHC097T																					ENST00000335867.4:c.1518G>A	p.Leu506=	p.L506=	ENST00000335867		506	ctG/ctA	0	not done		synonymous	
DACT1		inserm.fr	GRCh37	14	59113132	59113132	+	synonymous_variant	Silent	SNP	C	A	A			CHC1746T																					ENST00000335867.4:c.1791C>A	p.Gly597=	p.G597=	ENST00000335867		597	ggC/ggA	0	not done		synonymous	
OR5AN1		inserm.fr	GRCh37	11	59132636	59132636	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000313940.2:c.705G>A	p.Arg235=	p.R235=	ENST00000313940	NM_001004729.1	235	agG/agA	0	not done		synonymous	
CDH20		inserm.fr	GRCh37	18	59157873	59157873	+	synonymous_variant	Silent	SNP	G	A	A			CHC1079T																					ENST00000262717.4:c.87G>A	p.Thr29=	p.T29=	ENST00000262717		29	acG/acA	0	not done		synonymous	
ANO2		inserm.fr	GRCh37	12	5916479	5916479	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC799T																					ENST00000327087.8:c.936C>T	p.Asp312=	p.D312=	ENST00000327087	NM_001278596.1	312	gaC/gaT	0	not done		possiblydamaging	
PDE4D		inserm.fr	GRCh37	5	59189044	59189044	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000340635.6:c.406C>T	p.Leu136=	p.L136=	ENST00000340635	NM_001104631.1	136	Ctg/Ttg	0	not done		synonymous	
KIAA2026		inserm.fr	GRCh37	9	5922250	5922250	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC469T																					ENST00000399933.3:c.3746G>T	p.Gly1249Val	p.G1249V	ENST00000399933	NM_001017969.2	1249	gGt/gTt	0	validated		benign	
KIAA2026		inserm.fr	GRCh37	9	5922433	5922433	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2113T																					ENST00000399933.3:c.3563C>T	p.Ser1188Leu	p.S1188L	ENST00000399933	NM_001017969.2	1188	tCg/tTg	0	not done		benign	
OR4D11		inserm.fr	GRCh37	11	59271338	59271338	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1061T									Valid												ENST00000313253.1:c.290G>A	p.Cys97Tyr	p.C97Y	ENST00000313253	NM_001004706.1	97	tGc/tAc	0	validated		probablydamaging	
LRIG3		inserm.fr	GRCh37	12	59280637	59280637	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1207T																					ENST00000320743.3:c.1127A>T	p.Glu376Val	p.E376V	ENST00000320743	NM_153377.4	376	gAa/gTa	0	not done		probablydamaging	
LRIG3		inserm.fr	GRCh37	12	59313991	59313991	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB151T																					ENST00000320743.3:c.26G>T	p.Arg9Leu	p.R9L	ENST00000320743	NM_153377.4	9	cGc/cTc	0	validated		benign	
PATL1		inserm.fr	GRCh37	11	59417035	59417035	+	synonymous_variant	Silent	SNP	G	A	A			CHC320T																					ENST00000300146.9:c.1633C>T	p.Leu545=	p.L545=	ENST00000300146	NM_152716.2	545	Cta/Tta	0	validated		synonymous	
PATL1		inserm.fr	GRCh37	11	59426358	59426358	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1205T																					ENST00000300146.9:c.407G>T	p.Arg136Leu	p.R136L	ENST00000300146	NM_152716.2	136	cGa/cTa	0	validated		probablydamaging	
TBX2		inserm.fr	GRCh37	17	59485676	59485676	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000240328.3:c.1948G>A	p.Gly650Ser	p.G650S	ENST00000240328	NM_005994.3	650	Ggt/Agt	0	not done		benign	
C17orf82		inserm.fr	GRCh37	17	59489820	59489820	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000335108.2:c.484C>A	p.Pro162Thr	p.P162T	ENST00000335108	NM_203425.1	162	Ccg/Acg	0	not done		benign	
RANBP3		inserm.fr	GRCh37	19	5951561	5951561	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T																					ENST00000340578.6:c.125G>T	p.Arg42Leu	p.R42L	ENST00000340578	NM_007322.2	42	cGg/cTg	0	validated		benign	
TBX4		inserm.fr	GRCh37	17	59544919	59544919	+	synonymous_variant	Silent	SNP	C	A	A			CHC614T																					ENST00000240335.1:c.450C>A	p.Val150=	p.V150=	ENST00000240335	NM_018488.2	150	gtC/gtA	0	validated		synonymous	
GIF		inserm.fr	GRCh37	11	59604724	59604724	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000257248.2:c.794C>T	p.Pro265Leu	p.P265L	ENST00000257248	NM_005142.2	265	cCc/cTc	0	not done		possiblydamaging	
NPHP4		inserm.fr	GRCh37	1	5965455	5965455	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1708T																					ENST00000378156.4:c.1852G>T	p.Glu618Ter	p.E618*	ENST00000378156	NM_015102.3	618	Gag/Tag	0	not done		damaging	
FBXO18		inserm.fr	GRCh37	10	5965655	5965655	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000379999.5:c.2547G>A	p.Arg849=	p.R849=	ENST00000379999	NM_032807.4	849	agG/agA	0	not done		synonymous	
OR56A3		inserm.fr	GRCh37	11	5968606	5968606	+	synonymous_variant	Silent	SNP	C	A	A			BCM423T																					ENST00000329564.6:c.30C>A	p.Ser10=	p.S10=	ENST00000329564	NM_001003443.2	10	tcC/tcA	0	validated		synonymous	
OR56A3		inserm.fr	GRCh37	11	5968735	5968735	+	synonymous_variant	Silent	SNP	C	A	A			BCB231T																					ENST00000329564.6:c.159C>A	p.Ile53=	p.I53=	ENST00000329564	NM_001003443.2	53	atC/atA	0	validated		synonymous	
OR56A3		inserm.fr	GRCh37	11	5969202	5969202	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC879T																					ENST00000329564.6:c.626C>A	p.Thr209Asn	p.T209N	ENST00000329564	NM_001003443.2	209	aCt/aAt	0	not done		probablydamaging	
FAM81A		inserm.fr	GRCh37	15	59752319	59752319	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000288228.5:c.208G>A	p.Gly70Arg	p.G70R	ENST00000288228	NM_152450.2	70	Gga/Aga	0	not done		probablydamaging	
SOLH		inserm.fr	GRCh37	16	597780	597780	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2128T																					ENST00000219611.2:c.942C>A	p.Ser314Arg	p.S314R	ENST00000219611	NM_005632.2	314	agC/agA	0	not done		benign	
DAAM1		inserm.fr	GRCh37	14	59797258	59797258	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC961T																					ENST00000395125.1:c.1412G>A	p.Arg471Gln	p.R471Q	ENST00000395125	NM_014992.2	471	cGa/cAa	0	validated		probablydamaging	
PIGN		inserm.fr	GRCh37	18	59828508	59828508	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC902T																					ENST00000357637.5:c.79C>T	p.Pro27Ser	p.P27S	ENST00000357637	NM_176787.4	27	Cct/Tct	0	not done		probablydamaging	
WSCD1		inserm.fr	GRCh37	17	5984228	5984228	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000574946.1:c.250G>A	p.Gly84Ser	p.G84S	ENST00000574946		84	Ggt/Agt	0	not done		benign	
WSCD1		inserm.fr	GRCh37	17	5984320	5984320	+	synonymous_variant	Silent	SNP	C	A	A			CHC2052T																					ENST00000574946.1:c.342C>A	p.Arg114=	p.R114=	ENST00000574946		114	cgC/cgA	0	not done		synonymous	
BRIP1		inserm.fr	GRCh37	17	59853896	59853896	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1052T									Valid												ENST00000259008.2:c.1963C>T	p.Pro655Ser	p.P655S	ENST00000259008	NM_032043.2	655	Ccc/Tcc	0	validated		probablydamaging	
KIAA1468		inserm.fr	GRCh37	18	59854950	59854950	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2208T																					ENST00000398130.2:c.212T>A	p.Leu71His	p.L71H	ENST00000398130	NM_020854.3	71	cTc/cAc	0	not done		benign	
BRIP1		inserm.fr	GRCh37	17	59858242	59858242	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000259008.2:c.1753G>T	p.Ala585Ser	p.A585S	ENST00000259008	NM_032043.2	585	Gca/Tca	0	not done		possiblydamaging	
MS4A2		inserm.fr	GRCh37	11	59860966	59860966	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC917T																					ENST00000278888.3:c.472T>A	p.Tyr158Asn	p.Y158N	ENST00000278888	NM_000139.4	158	Tat/Aat	0	validated		probablydamaging	
OR56A5		inserm.fr	GRCh37	11	5989523	5989523	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000532411.1:n.202C>T		*68*	ENST00000532411				0	not done		benign	
DEPDC1B		inserm.fr	GRCh37	5	59899355	59899355	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1568T																					ENST00000265036.5:c.1105G>T	p.Asp369Tyr	p.D369Y	ENST00000265036	NM_018369.2	369	Gat/Tat	0	not done		probablydamaging	
GPR135		inserm.fr	GRCh37	14	59930761	59930761	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1035T									Valid												ENST00000395116.1:c.1184C>T	p.Ser395Leu	p.S395L	ENST00000395116	NM_022571.5	395	tCg/tTg	0	validated		probablydamaging	
KIAA1468		inserm.fr	GRCh37	18	59936110	59936110	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000398130.2:c.2689G>A	p.Ala897Thr	p.A897T	ENST00000398130	NM_020854.3	897	Gca/Aca	0	not done		benign	
CCDC175		inserm.fr	GRCh37	14	60010109	60010109	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000537690.2:c.1236C>T	p.Asp412=	p.D412=	ENST00000537690	NM_001164399.1	412	gaC/gaT	0	not done		synonymous	
MED13		inserm.fr	GRCh37	17	60024316	60024316	+	synonymous_variant	Silent	SNP	G	A	A			CHC437T																					ENST00000397786.2:c.6354C>T	p.Ser2118=	p.S2118=	ENST00000397786	NM_005121.2	2118	tcC/tcT	0	not done		synonymous	
IPMK		inserm.fr	GRCh37	10	60027309	60027309	+	synonymous_variant	Silent	SNP	G	A	A			BCB231T																					ENST00000373935.3:c.63C>T	p.Thr21=	p.T21=	ENST00000373935	NM_152230.4	21	acC/acT	0	validated		synonymous	
FGGY		inserm.fr	GRCh37	1	60073582	60073582	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC1083T																					ENST00000371218.4:c.1011G>A	p.Leu337=	p.L337=	ENST00000371218	NM_001113411.1	337	ttG/ttA	0	validated		damaging	
OR52L1		inserm.fr	GRCh37	11	6008113	6008113	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM399T																					ENST00000332249.4:c.48G>T	p.Met16Ile	p.M16I	ENST00000332249	NM_001005173.2	16	atG/atT	0	validated		probablydamaging	
RFX2		inserm.fr	GRCh37	19	6008127	6008127	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1205T																					ENST00000303657.5:c.1124G>T	p.Arg375Leu	p.R375L	ENST00000303657	NM_000635.3	375	cGg/cTg	0	validated		benign	
RANBP6		inserm.fr	GRCh37	9	6014300	6014300	+	synonymous_variant	Silent	SNP	T	A	A			CHC609T																					ENST00000259569.5:c.1308A>T	p.Thr436=	p.T436=	ENST00000259569	NM_012416.3	436	acA/acT	0	validated		synonymous	
SLC16A7		inserm.fr	GRCh37	12	60168617	60168617	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC433T									Valid												ENST00000261187.4:c.541T>A	p.Leu181Met	p.L181M	ENST00000261187	NM_004731.4	181	Ttg/Atg	0	validated		probablydamaging	
SLC16A7		inserm.fr	GRCh37	12	60169076	60169076	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000261187.4:c.1000G>A	p.Ala334Thr	p.A334T	ENST00000261187	NM_004731.4	334	Gca/Aca	0	not done		benign	
SLC16A7		inserm.fr	GRCh37	12	60173444	60173444	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1736T																					ENST00000261187.4:c.1421G>A	p.Arg474Lys	p.R474K	ENST00000261187	NM_004731.4	474	aGa/aAa	0	not done		benign	
MS4A14		inserm.fr	GRCh37	11	60183049	60183049	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000531783.1:c.707G>A	p.Gly236Glu	p.G236E	ENST00000531783	NM_001261828.1	236	gGa/gAa	0	not done		probablydamaging	
MS4A14		inserm.fr	GRCh37	11	60184160	60184160	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000531783.1:c.1818G>A	p.Gly606=	p.G606=	ENST00000531783	NM_001261828.1	606	ggG/ggA	0	not done		synonymous	
ERCC8		inserm.fr	GRCh37	5	60200672	60200672	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1774T																					ENST00000265038.5:c.428C>T	p.Thr143Ile	p.T143I	ENST00000265038	NM_000082.3	143	aCa/aTa	0	validated		benign	
RTN1		inserm.fr	GRCh37	14	60212891	60212891	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM339T																					ENST00000267484.5:c.550G>T	p.Asp184Tyr	p.D184Y	ENST00000267484	NM_021136.2	184	Gac/Tac	0	validated		possiblydamaging	
ZCCHC2		inserm.fr	GRCh37	18	60241996	60241996	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000269499.5:c.2682G>A	p.Gln894=	p.Q894=	ENST00000269499	NM_017742.4	894	caG/caA	0	not done		synonymous	
SOLH		inserm.fr	GRCh37	16	602436	602436	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC258T																					ENST00000219611.2:c.2643C>A	p.Ser881Arg	p.S881R	ENST00000219611	NM_005632.2	881	agC/agA	0	validated		benign	
RFX2		inserm.fr	GRCh37	19	6026183	6026183	+	synonymous_variant	Silent	SNP	G	A	A			CHC902T																					ENST00000303657.5:c.588C>T	p.Leu196=	p.L196=	ENST00000303657	NM_000635.3	196	ctC/ctT	0	not done		synonymous	
SOLH		inserm.fr	GRCh37	16	602648	602648	+	synonymous_variant	Silent	SNP	G	A	A			CHC1704T																					ENST00000219611.2:c.2781G>A	p.Pro927=	p.P927=	ENST00000219611	NM_005632.2	927	ccG/ccA	0	not done		synonymous	
CDH4		inserm.fr	GRCh37	20	60318706	60318706	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2111T																					ENST00000360469.5:c.257T>A	p.Phe86Tyr	p.F86Y	ENST00000360469	NM_001794.3	86	tTc/tAc	0	not done		benign	
JAKMIP1		inserm.fr	GRCh37	4	6042394	6042394	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2128T																					ENST00000409021.3:c.2147G>T	p.Arg716Leu	p.R716L	ENST00000409021	NM_001099433.1	716	cGg/cTg	0	not done		probablydamaging	
CDH4		inserm.fr	GRCh37	20	60427891	60427891	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC051T									Valid												ENST00000360469.5:c.814G>A	p.Asp272Asn	p.D272N	ENST00000360469	NM_001794.3	272	Gac/Aac	0	validated		possiblydamaging	
CDH4		inserm.fr	GRCh37	20	60509175	60509175	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1626T																					ENST00000360469.5:c.2441C>A	p.Pro814His	p.P814H	ENST00000360469	NM_001794.3	814	cCt/cAt	0	not done		possiblydamaging	
MS4A15		inserm.fr	GRCh37	11	60531261	60531261	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC801T																					ENST00000405633.3:c.55G>A	p.Ala19Thr	p.A19T	ENST00000405633	NM_001098835.1	19	Gcc/Acc	0	not done		benign	
TAF4		inserm.fr	GRCh37	20	60574043	60574043	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000252996.4:c.2909C>T	p.Ala970Val	p.A970V	ENST00000252996	NM_003185.3	970	gCa/gTa	0	not done		probablydamaging	
PHLPP1		inserm.fr	GRCh37	18	60587240	60587240	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000262719.5:c.2853G>A	p.Gln951=	p.Q951=	ENST00000262719		951	caG/caA	0	not done		synonymous	
CCDC86		inserm.fr	GRCh37	11	60609846	60609846	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000227520.5:c.249G>A	p.Gly83=	p.G83=	ENST00000227520	NM_024098.3	83	ggG/ggA	0	not done		synonymous	
PTGDR2		inserm.fr	GRCh37	11	60620469	60620469	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000332539.4:c.727C>T	p.Arg243Cys	p.R243C	ENST00000332539	NM_004778.2	243	Cgc/Tgc	0	not done		probablydamaging	
PHLPP1		inserm.fr	GRCh37	18	60639831	60639831	+	synonymous_variant	Silent	SNP	G	A	A			CHC051T																					ENST00000262719.5:c.3645G>A	p.Val1215=	p.V1215=	ENST00000262719		1215	gtG/gtA	0	validated		synonymous	
TAF4		inserm.fr	GRCh37	20	60640757	60640757	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2115T																					ENST00000252996.4:c.110C>T	p.Ala37Val	p.A37V	ENST00000252996	NM_003185.3	37	gCg/gTg	0	validated		possiblydamaging	
TAF4		inserm.fr	GRCh37	20	60640758	60640758	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2115T																					ENST00000252996.4:c.109G>T	p.Ala37Ser	p.A37S	ENST00000252996	NM_003185.3	37	Gcg/Tcg	0	validated		benign	
PRPF19		inserm.fr	GRCh37	11	60665588	60665588	+	synonymous_variant	Silent	SNP	C	A	A			CHC1207T																					ENST00000227524.4:c.1296G>T	p.Leu432=	p.L432=	ENST00000227524	NM_014502.4	432	ctG/ctT	0	validated		synonymous	
TLK2		inserm.fr	GRCh37	17	60674005	60674005	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM339T																					ENST00000346027.5:c.1520T>A	p.Leu507Gln	p.L507Q	ENST00000346027	NM_006852.3	507	cTg/cAg	0	validated		probablydamaging	
BCL11A		inserm.fr	GRCh37	2	60689067	60689067	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1531T																					ENST00000335712.6:c.980C>T	p.Ser327Phe	p.S327F	ENST00000335712	NM_022893.3	327	tCt/tTt	0	not done		probablydamaging	
TMEM132A		inserm.fr	GRCh37	11	60695206	60695206	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2200T																					ENST00000005286.4:c.409C>A	p.Pro137Thr	p.P137T	ENST00000005286	NM_178031.2	137	Ccc/Acc	0	not done		probablydamaging	
PSMA7		inserm.fr	GRCh37	20	60718351	60718351	+	synonymous_variant	Silent	SNP	G	A	A			CHC314T																					ENST00000370873.4:c.9C>T	p.Tyr3=	p.Y3=	ENST00000370873	NM_002792.3	3	taC/taT	0	validated		synonymous	
MRC2		inserm.fr	GRCh37	17	60742236	60742236	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000303375.5:c.446G>A	p.Arg149His	p.R149H	ENST00000303375	NM_006039.4	149	cGt/cAt	0	not done		probablydamaging	
MRC2		inserm.fr	GRCh37	17	60768434	60768434	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1137T																					ENST00000303375.5:c.4137G>A	p.Trp1379Ter	p.W1379*	ENST00000303375	NM_006039.4	1379	tgG/tgA	0	not done		damaging	
MRC2		inserm.fr	GRCh37	17	60768452	60768452	+	synonymous_variant	Silent	SNP	C	A	A			CHC1594T																					ENST00000303375.5:c.4155C>A	p.Thr1385=	p.T1385=	ENST00000303375	NM_006039.4	1385	acC/acA	0	not done		synonymous	
GTPBP5		inserm.fr	GRCh37	20	60772916	60772916	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2215T																					ENST00000370823.3:c.361C>A	p.Gln121Lys	p.Q121K	ENST00000370823	NM_015666.3	121	Caa/Aaa	0	not done		benign	
RORA		inserm.fr	GRCh37	15	60795820	60795820	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB111T									Valid												ENST00000261523.5:c.1088C>T	p.Ala363Val	p.A363V	ENST00000261523	NM_134260.2	363	gCt/gTt	0	validated		probablydamaging	
JAKMIP1		inserm.fr	GRCh37	4	6082017	6082017	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000409021.3:c.1124C>T	p.Ala375Val	p.A375V	ENST00000409021	NM_001099433.1	375	gCg/gTg	0	not done		benign	
EIF2AK1		inserm.fr	GRCh37	7	6082580	6082580	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM337T																					ENST00000199389.6:c.775G>T	p.Asp259Tyr	p.D259Y	ENST00000199389	NM_001134335.1	259	Gac/Tac	0	validated		probablydamaging	
ZSWIM6		inserm.fr	GRCh37	5	60827358	60827358	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000252744.5:c.2051G>A	p.Gly684Glu	p.G684E	ENST00000252744	NM_020928.1	684	gGg/gAg	0	not done		possiblydamaging	
ZSWIM6		inserm.fr	GRCh37	5	60839761	60839761	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000252744.5:c.3265G>A	p.Ala1089Thr	p.A1089T	ENST00000252744	NM_020928.1	1089	Gct/Act	0	not done		benign	
ZSWIM6		inserm.fr	GRCh37	5	60839822	60839822	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000252744.5:c.3326G>A	p.Arg1109His	p.R1109H	ENST00000252744	NM_020928.1	1109	cGc/cAc	0	not done		possiblydamaging	
VWF		inserm.fr	GRCh37	12	6085324	6085324	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB111T									Valid												ENST00000261405.5:c.7390C>T	p.Arg2464Cys	p.R2464C	ENST00000261405	NM_000552.3	2464	Cgc/Tgc	0	validated		probablydamaging	
ADRM1		inserm.fr	GRCh37	20	60882799	60882799	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB301T																					ENST00000253003.2:c.771C>A	p.Ser257Arg	p.S257R	ENST00000253003	NM_175573.2	257	agC/agA	0	validated		benign	
LAMA5		inserm.fr	GRCh37	20	60884776	60884776	+	synonymous_variant	Silent	SNP	C	A	A			CHC1091T																					ENST00000252999.3:c.10944G>T	p.Leu3648=	p.L3648=	ENST00000252999	NM_005560.4	3648	ctG/ctT	0	validated		synonymous	
LAMA5		inserm.fr	GRCh37	20	60886819	60886819	+	synonymous_variant	Silent	SNP	G	A	A			CHC2113T																					ENST00000252999.3:c.9657C>T	p.Asp3219=	p.D3219=	ENST00000252999	NM_005560.4	3219	gaC/gaT	0	not done		synonymous	
LAMA5		inserm.fr	GRCh37	20	60902591	60902591	+	synonymous_variant	Silent	SNP	G	A	A			CHC322T																					ENST00000252999.3:c.4932C>T	p.Arg1644=	p.R1644=	ENST00000252999	NM_005560.4	1644	cgC/cgT	0	validated		synonymous	
LAMA5		inserm.fr	GRCh37	20	60902943	60902943	+	synonymous_variant	Silent	SNP	G	A	A			CHC1704T																					ENST00000252999.3:c.4776C>T	p.Leu1592=	p.L1592=	ENST00000252999	NM_005560.4	1592	ctC/ctT	0	not done		synonymous	
LAMA5		inserm.fr	GRCh37	20	60911488	60911488	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC326T									Valid												ENST00000252999.3:c.2231G>T	p.Cys744Phe	p.C744F	ENST00000252999	NM_005560.4	744	tGt/tTt	0	validated		probablydamaging	
LAMA5		inserm.fr	GRCh37	20	60913338	60913338	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000252999.3:c.1706C>T	p.Ala569Val	p.A569V	ENST00000252999	NM_005560.4	569	gCc/gTc	0	not done		benign	
RBBP8NL		inserm.fr	GRCh37	20	60989327	60989327	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000252998.1:c.1080C>T	p.Ala360=	p.A360=	ENST00000252998	NM_080833.2	360	gcC/gcT	0	not done		synonymous	
RBBP8NL		inserm.fr	GRCh37	20	60991266	60991266	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC510T																					ENST00000252998.1:c.340G>T	p.Glu114Ter	p.E114*	ENST00000252998	NM_080833.2	114	Gag/Tag	0	validated		damaging	
KDSR		inserm.fr	GRCh37	18	61006090	61006090	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1626T																					ENST00000406396.3:c.720G>T	p.Glu240Asp	p.E240D	ENST00000406396	NM_002035.2	240	gaG/gaT	0	validated		benign	
CYBASC3		inserm.fr	GRCh37	11	61121397	61121397	+	synonymous_variant	Silent	SNP	T	A	A			BCM695T																					ENST00000426130.2:c.303A>T	p.Ala101=	p.A101=	ENST00000426130	NM_001161454.1	101	gcA/gcT	0	validated		synonymous	
SIX4		inserm.fr	GRCh37	14	61180321	61180321	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM265T																					ENST00000216513.4:c.2150C>T	p.Ser717Leu	p.S717L	ENST00000216513	NM_017420.4	717	tCg/tTg	0	validated		benign	
SIX4		inserm.fr	GRCh37	14	61180349	61180349	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T									Valid												ENST00000216513.4:c.2122G>T	p.Val708Phe	p.V708F	ENST00000216513	NM_017420.4	708	Gtc/Ttc	0	validated		possiblydamaging	
SIX4		inserm.fr	GRCh37	14	61190543	61190543	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2351T																					ENST00000216513.4:c.250G>T	p.Val84Leu	p.V84L	ENST00000216513	NM_017420.4	84	Gta/Tta	0	not done		benign	
PPP1R32		inserm.fr	GRCh37	11	61252817	61252817	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM543T																					ENST00000338608.2:c.518G>A	p.Arg173His	p.R173H	ENST00000338608	NM_145017.2	173	cGc/cAc	0	validated		possiblydamaging	
PPP1R32		inserm.fr	GRCh37	11	61254423	61254423	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC314T																					ENST00000338608.2:c.838C>A	p.Pro280Thr	p.P280T	ENST00000338608	NM_145017.2	280	Ccc/Acc	0	validated		probablydamaging	
PPP1R32		inserm.fr	GRCh37	11	61254435	61254435	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC253T																					ENST00000338608.2:c.850C>A	p.Pro284Thr	p.P284T	ENST00000338608	NM_145017.2	284	Cca/Aca	0	validated		probablydamaging	
PEX13		inserm.fr	GRCh37	2	61258931	61258931	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1744T																					ENST00000295030.5:c.470G>A	p.Ser157Asn	p.S157N	ENST00000295030	NM_002618.3	157	aGt/aAt	0	not done		probablydamaging	
OR56B4		inserm.fr	GRCh37	11	6129072	6129072	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB111T									Valid												ENST00000316529.3:c.64G>A	p.Gly22Arg	p.G22R	ENST00000316529	NM_001005181.1	22	Gga/Aga	0	validated		probablydamaging	
OR56B4		inserm.fr	GRCh37	11	6129904	6129904	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T																					ENST00000316529.3:c.896G>A	p.Arg299Lys	p.R299K	ENST00000316529	NM_001005181.1	299	aGg/aAg	0	validated		benign	
SANBR		inserm.fr	GRCh37	2	61310418	61310418	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC432T																					ENST00000402291.1:c.859G>A	p.Asp287Asn	p.D287N	ENST00000402291	NM_001129993.1	287	Gat/Aat	0	not done		probablydamaging	
TANC2		inserm.fr	GRCh37	17	61315224	61315224	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000424789.2:c.597G>A	p.Gly199=	p.G199=	ENST00000424789	NM_025185.3	199	ggG/ggA	0	not done		synonymous	
SERPINB3		inserm.fr	GRCh37	18	61322962	61322962	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000283752.5:c.1102C>T	p.Pro368Ser	p.P368S	ENST00000283752	NM_006919.2	368	Cct/Tct	0	not done		probablydamaging	
SERPINB11		inserm.fr	GRCh37	18	61377453	61377453	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC433T									Valid												ENST00000544088.1:c.26T>A	p.Val9Asp	p.V9D	ENST00000544088	NM_080475.2	9	gTt/gAt	0	validated		possiblydamaging	
SLC16A9		inserm.fr	GRCh37	10	61412672	61412672	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC097T																					ENST00000395348.3:c.1388C>T	p.Ala463Val	p.A463V	ENST00000395348	NM_194298.2	463	gCa/gTa	0	not done		probablydamaging	
TANC2		inserm.fr	GRCh37	17	61432391	61432391	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000424789.2:c.2000G>A	p.Gly667Asp	p.G667D	ENST00000424789	NM_025185.3	667	gGc/gAc	0	not done		probablydamaging	
OGFR		inserm.fr	GRCh37	20	61439624	61439624	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000290291.6:c.266G>A	p.Gly89Glu	p.G89E	ENST00000290291	NM_007346.2	89	gGg/gAg	0	not done		probablydamaging	
OGFR		inserm.fr	GRCh37	20	61443959	61443959	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000290291.6:c.992G>A	p.Gly331Glu	p.G331E	ENST00000290291	NM_007346.2	331	gGg/gAg	0	not done		benign	
SLC38A6		inserm.fr	GRCh37	14	61449305	61449305	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1061T									Valid												ENST00000354886.2:c.185G>A	p.Gly62Asp	p.G62D	ENST00000354886	NM_001172702.1	62	gGc/gAc	0	validated		probablydamaging	
SERPINB7		inserm.fr	GRCh37	18	61468204	61468204	+	synonymous_variant	Silent	SNP	C	A	A			CHC2200T																					ENST00000398019.2:c.702C>A	p.Gly234=	p.G234=	ENST00000398019	NM_003784.3	234	ggC/ggA	0	not done		synonymous	
TANC2		inserm.fr	GRCh37	17	61497864	61497864	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000424789.2:c.4521G>A	p.Pro1507=	p.P1507=	ENST00000424789	NM_025185.3	1507	ccG/ccA	0	not done		synonymous	
TANC2		inserm.fr	GRCh37	17	61499182	61499182	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1568T																					ENST00000424789.2:c.5839G>A	p.Val1947Met	p.V1947M	ENST00000424789	NM_025185.3	1947	Gtg/Atg	0	not done		probablydamaging	
MYRF		inserm.fr	GRCh37	11	61533620	61533620	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC327T																					ENST00000278836.5:c.325G>A	p.Ala109Thr	p.A109T	ENST00000278836	NM_001127392.1	109	Gct/Act	0	validated		benign	
USP34		inserm.fr	GRCh37	2	61542058	61542058	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM543T																					ENST00000398571.2:c.3334G>T	p.Asp1112Tyr	p.D1112Y	ENST00000398571	NM_014709.3	1112	Gat/Tat	0	validated		probablydamaging	
ACE		inserm.fr	GRCh37	17	61556376	61556376	+	synonymous_variant	Silent	SNP	C	A	A			CHC1044T																					ENST00000290866.4:c.426C>A	p.Ala142=	p.A142=	ENST00000290866	NM_000789.3	142	gcC/gcA	0	not done		synonymous	
SERPINB2		inserm.fr	GRCh37	18	61562498	61562498	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC736T									Valid												ENST00000457692.1:c.169G>A	p.Val57Met	p.V57M	ENST00000457692	NM_001143818.1	57	Gtg/Atg	0	validated		probablydamaging	
USP34		inserm.fr	GRCh37	2	61566537	61566537	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2103T																					ENST00000398571.2:c.2693A>T	p.Gln898Leu	p.Q898L	ENST00000398571	NM_014709.3	898	cAa/cTa	0	not done		possiblydamaging	
ACE		inserm.fr	GRCh37	17	61571763	61571763	+	synonymous_variant	Silent	SNP	G	A	A			CHC1708T																					ENST00000290866.4:c.3312G>A	p.Val1104=	p.V1104=	ENST00000290866	NM_000789.3	1104	gtG/gtA	0	not done		synonymous	
ACE		inserm.fr	GRCh37	17	61574224	61574224	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM399T									Valid												ENST00000290866.4:c.3569C>A	p.Pro1190His	p.P1190H	ENST00000290866	NM_000789.3	1190	cCc/cAc	0	validated		probablydamaging	
KCNH6		inserm.fr	GRCh37	17	61621742	61621742	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1598T																					ENST00000583023.1:c.2474G>A	p.Arg825Lys	p.R825K	ENST00000583023	NM_030779.3	825	aGg/aAg	0	not done		benign	
FADS2		inserm.fr	GRCh37	11	61630815	61630815	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1600T																					ENST00000278840.4:c.1042G>A	p.Asp348Asn	p.D348N	ENST00000278840	NM_004265.3	348	Gac/Aac	0	not done		benign	
BHLHE23		inserm.fr	GRCh37	20	61637540	61637540	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370346.2:c.539C>T	p.Ala180Val	p.A180V	ENST00000370346	NM_080606.3	180	gCc/gTc	0	not done		possiblydamaging	
SERPINB8		inserm.fr	GRCh37	18	61645602	61645602	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000397985.2:c.60G>A	p.Gly20=	p.G20=	ENST00000397985		20	ggG/ggA	0	not done		synonymous	
CHD7		inserm.fr	GRCh37	8	61655582	61655582	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1597T																					ENST00000423902.2:c.1591C>A	p.His531Asn	p.H531N	ENST00000423902	NM_017780.3	531	Cac/Aac	0	not done		probablydamaging	
DIMT1		inserm.fr	GRCh37	5	61688048	61688048	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1600T																					ENST00000199320.4:c.742C>T	p.Gln248Ter	p.Q248*	ENST00000199320	NM_014473.2	248	Caa/Taa	0	not done		damaging	
DIMT1		inserm.fr	GRCh37	5	61688049	61688049	+	synonymous_variant	Silent	SNP	C	A	A			CHC1600T																					ENST00000199320.4:c.741G>T	p.Val247=	p.V247=	ENST00000199320	NM_014473.2	247	gtG/gtT	0	not done		synonymous	
CHD7		inserm.fr	GRCh37	8	61693910	61693910	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000423902.2:c.2017G>A	p.Ala673Thr	p.A673T	ENST00000423902	NM_017780.3	673	Gcc/Acc	0	not done		benign	
CHD5		inserm.fr	GRCh37	1	6169919	6169919	+	synonymous_variant	Silent	SNP	G	A	A			CHC2098T																					ENST00000262450.3:c.5514C>T	p.Ser1838=	p.S1838=	ENST00000262450	NM_015557.2	1838	agC/agT	0	not done		synonymous	
XPO1		inserm.fr	GRCh37	2	61726870	61726870	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC703T																					ENST00000401558.2:c.568A>T	p.Lys190Ter	p.K190*	ENST00000401558	NM_003400.3	190	Aaa/Taa	0	validated		damaging	
CHD7		inserm.fr	GRCh37	8	61741242	61741242	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000423902.2:c.3399G>A	p.Thr1133=	p.T1133=	ENST00000423902	NM_017780.3	1133	acG/acA	0	not done		synonymous	
MAP3K3		inserm.fr	GRCh37	17	61762933	61762933	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000361357.3:c.786G>A	p.Leu262=	p.L262=	ENST00000361357	NM_203351.1	262	ttG/ttA	0	not done		synonymous	
CHD7		inserm.fr	GRCh37	8	61763116	61763116	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000423902.2:c.5469G>A	p.Met1823Ile	p.M1823I	ENST00000423902	NM_017780.3	1823	atG/atA	0	not done		possiblydamaging	
MAP3K3		inserm.fr	GRCh37	17	61767623	61767623	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000361357.3:c.1157-1G>A		p.X386_splice	ENST00000361357	NM_203351.1			0	not done		damaging	
IPO11		inserm.fr	GRCh37	5	61781258	61781258	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2052T																					ENST00000409296.3:c.1307C>A	p.Thr436Lys	p.T436K	ENST00000409296	NM_001134779.1	436	aCa/aAa	0	not done		possiblydamaging	
ANK3		inserm.fr	GRCh37	10	61828914	61828914	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM739T																					ENST00000280772.2:c.11725G>T	p.Val3909Leu	p.V3909L	ENST00000280772	NM_020987.3	3909	Gta/Tta	0	validated		benign	
ANK3		inserm.fr	GRCh37	10	61829879	61829879	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000280772.2:c.10760C>T	p.Thr3587Met	p.T3587M	ENST00000280772	NM_020987.3	3587	aCg/aTg	0	validated		probablydamaging	
ANK3		inserm.fr	GRCh37	10	61830119	61830119	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC322T									Valid												ENST00000280772.2:c.10520G>T	p.Gly3507Val	p.G3507V	ENST00000280772	NM_020987.3	3507	gGc/gTc	0	validated		probablydamaging	
YTHDF1		inserm.fr	GRCh37	20	61833863	61833863	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1531T																					ENST00000370339.3:c.1429C>T	p.Gln477Ter	p.Q477*	ENST00000370339	NM_017798.3	477	Cag/Tag	0	not done		damaging	
ANK3		inserm.fr	GRCh37	10	61836208	61836208	+	splice_acceptor_variant	Splice_Site	SNP	T	A	A			BCM739T																					ENST00000280772.2:c.4433-2A>T		p.X1478_splice	ENST00000280772	NM_020987.3			0	validated		damaging	
USP42		inserm.fr	GRCh37	7	6183784	6183784	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2351T																					ENST00000306177.5:c.947C>A	p.Ser316Tyr	p.S316Y	ENST00000306177	NM_032172.2	316	tCt/tAt	0	not done		probablydamaging	
CDH8		inserm.fr	GRCh37	16	61851534	61851534	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC912T									Valid												ENST00000577390.1:c.1126G>T	p.Ala376Ser	p.A376S	ENST00000577390	NM_001796.4	376	Gcg/Tcg	0	validated		possiblydamaging	
INCENP		inserm.fr	GRCh37	11	61914234	61914234	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000394818.3:c.2064G>A	p.Arg688=	p.R688=	ENST00000394818	NM_001040694.1	688	cgG/cgA	0	not done		synonymous	
CDH8		inserm.fr	GRCh37	16	61935319	61935319	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC451T																					ENST00000577390.1:c.311G>T	p.Gly104Val	p.G104V	ENST00000577390	NM_001796.4	104	gGa/gTa	0	validated		probablydamaging	
ANK3		inserm.fr	GRCh37	10	61941149	61941149	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1044T																					ENST00000280772.2:c.2122G>T	p.Asp708Tyr	p.D708Y	ENST00000280772	NM_020987.3	708	Gat/Tat	0	not done		probablydamaging	
CSH2		inserm.fr	GRCh37	17	61949499	61949499	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1744T																					ENST00000392886.2:c.641G>T	p.Ser214Ile	p.S214I	ENST00000392886	NM_020991.3	214	aGc/aTc	0	not done		probablydamaging	
CSH2		inserm.fr	GRCh37	17	61950689	61950689	+	synonymous_variant	Silent	SNP	C	A	A			CHC258T																					ENST00000392886.2:c.21G>T	p.Thr7=	p.T7=	ENST00000392886	NM_020991.3	7	acG/acT	0	validated		synonymous	
SCGB1D1		inserm.fr	GRCh37	11	61959656	61959656	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000306238.3:c.184G>A	p.Val62Met	p.V62M	ENST00000306238	NM_006552.1	62	Gtg/Atg	0	not done		probablydamaging	
PCDH20		inserm.fr	GRCh37	13	61986389	61986389	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC121T									Valid												ENST00000409186.1:c.1843G>T	p.Gly615Trp	p.G615W	ENST00000409186		615	Ggg/Tgg	0	validated		probablydamaging	
CSHL1		inserm.fr	GRCh37	17	61988253	61988253	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000309894.5:c.42C>T	p.Ala14=	p.A14=	ENST00000309894	NM_022579.1	14	gcC/gcT	0	not done		synonymous	
CHRNA4		inserm.fr	GRCh37	20	61992475	61992475	+	synonymous_variant	Silent	SNP	G	A	A			CHC1602T																					ENST00000370263.4:c.43C>T	p.Leu15=	p.L15=	ENST00000370263	NM_000744.6	15	Ctg/Ttg	0	not done		synonymous	
SCN4A		inserm.fr	GRCh37	17	62018479	62018479	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000435607.1:c.5163C>T	p.Thr1721=	p.T1721=	ENST00000435607	NM_000334.4	1721	acC/acT	0	not done		synonymous	
SCN4A		inserm.fr	GRCh37	17	62019181	62019181	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000435607.1:c.4461C>T	p.Leu1487=	p.L1487=	ENST00000435607	NM_000334.4	1487	ctC/ctT	0	not done		synonymous	
SCN4A		inserm.fr	GRCh37	17	62025256	62025256	+	synonymous_variant	Silent	SNP	G	A	A			CHC429T																					ENST00000435607.1:c.3312C>T	p.Ile1104=	p.I1104=	ENST00000435607	NM_000334.4	1104	atC/atT	0	validated		synonymous	
SCN4A		inserm.fr	GRCh37	17	62026804	62026804	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000435607.1:c.2938C>T	p.Gln980Ter	p.Q980*	ENST00000435607	NM_000334.4	980	Cag/Tag	0	not done		damaging	
KCNQ2		inserm.fr	GRCh37	20	62039839	62039839	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC437T																					ENST00000359125.2:c.1814C>T	p.Thr605Ile	p.T605I	ENST00000359125	NM_172107.2	605	aCc/aTc	0	not done		benign	
SCN4A		inserm.fr	GRCh37	17	62043527	62043527	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC451T									Valid												ENST00000435607.1:c.1177A>T	p.Ser393Cys	p.S393C	ENST00000435607	NM_000334.4	393	Agc/Tgc	0	validated		probablydamaging	
SCN4A		inserm.fr	GRCh37	17	62045533	62045533	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2048T																					ENST00000435607.1:c.886A>T	p.Ser296Cys	p.S296C	ENST00000435607	NM_000334.4	296	Agc/Tgc	0	not done		benign	
SCN4A		inserm.fr	GRCh37	17	62049948	62049948	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000435607.1:c.254C>T	p.Pro85Leu	p.P85L	ENST00000435607	NM_000334.4	85	cCc/cTc	0	not done		possiblydamaging	
FAM161A		inserm.fr	GRCh37	2	62069296	62069296	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM545T																					ENST00000404929.1:c.383C>T	p.Pro128Leu	p.P128L	ENST00000404929	NM_001201543.1	128	cCa/cTa	0	validated		probablydamaging	
C17orf72		inserm.fr	GRCh37	17	62078580	62078580	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2115T																					ENST00000425164.3:c.380C>A	p.Pro127Gln	p.P127Q	ENST00000425164	NM_001191029.1	127	cCa/cAa	0	validated		probablydamaging	
KCNQ2		inserm.fr	GRCh37	20	62103700	62103700	+	synonymous_variant	Silent	SNP	C	A	A			CHC1154T																					ENST00000359125.2:c.117G>T	p.Ala39=	p.A39=	ENST00000359125	NM_172107.2	39	gcG/gcT	0	not done		synonymous	
PTPRG		inserm.fr	GRCh37	3	62118287	62118287	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000474889.1:c.627G>A	p.Arg209=	p.R209=	ENST00000474889	NM_002841.3	209	agG/agA	0	not done		synonymous	
ERN1		inserm.fr	GRCh37	17	62121362	62121362	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC121T									Valid												ENST00000433197.3:c.2920C>T	p.Pro974Ser	p.P974S	ENST00000433197	NM_001433.3	974	Cca/Tca	0	validated		benign	
EEF1A2		inserm.fr	GRCh37	20	62122079	62122079	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM683T									Valid												ENST00000217182.3:c.782C>T	p.Thr261Met	p.T261M	ENST00000217182	NM_001958.3	261	aCg/aTg	0	validated		probablydamaging	
SRMS		inserm.fr	GRCh37	20	62178718	62178718	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000217188.1:c.99C>T	p.Ser33=	p.S33=	ENST00000217188	NM_080823.2	33	tcC/tcT	0	not done		synonymous	
VWF		inserm.fr	GRCh37	12	6219674	6219674	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000261405.5:c.398C>T	p.Ala133Val	p.A133V	ENST00000261405	NM_000552.3	133	gCc/gTc	0	not done		benign	
HIF1A		inserm.fr	GRCh37	14	62200981	62200981	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000539097.1:c.1078G>A	p.Val360Ile	p.V360I	ENST00000539097	NM_001243084.1	360	Gta/Ata	0	not done		probablydamaging	
CLVS1		inserm.fr	GRCh37	8	62212796	62212796	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000519846.1:c.410G>A	p.Gly137Asp	p.G137D	ENST00000519846		137	gGc/gAc	0	not done		probablydamaging	
PTPRG		inserm.fr	GRCh37	3	62248551	62248551	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1738T																					ENST00000474889.1:c.2638T>A	p.Tyr880Asn	p.Y880N	ENST00000474889	NM_002841.3	880	Tac/Aac	0	not done		probablydamaging	
TEX2		inserm.fr	GRCh37	17	62265547	62265547	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1744T																					ENST00000258991.3:c.2426G>T	p.Ser809Ile	p.S809I	ENST00000258991	NM_001288732.1	809	aGc/aTc	0	validated		probablydamaging	
INADL		inserm.fr	GRCh37	1	62293196	62293196	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1556T																					ENST00000371158.2:c.1921G>A	p.Asp641Asn	p.D641N	ENST00000371158	NM_176877.2	641	Gat/Aat	0	not done		probablydamaging	
AHNAK		inserm.fr	GRCh37	11	62294146	62294146	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM397T																					ENST00000378024.4:c.7743G>T	p.Met2581Ile	p.M2581I	ENST00000378024	NM_001620.2	2581	atG/atT	0	validated		probablydamaging	
AHNAK		inserm.fr	GRCh37	11	62302575	62302575	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM711T																					ENST00000378024.4:c.242C>T	p.Thr81Met	p.T81M	ENST00000378024	NM_001620.2	81	aCg/aTg	0	validated		probablydamaging	
C3orf14		inserm.fr	GRCh37	3	62306187	62306187	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM275T									Valid												ENST00000494481.1:c.41G>A	p.Arg14Lys	p.R14K	ENST00000494481		14	aGa/aAa	0	validated		possiblydamaging	
RTEL1		inserm.fr	GRCh37	20	62319041	62319041	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1062T																					ENST00000508582.2:c.1471C>A	p.Leu491Met	p.L491M	ENST00000508582		491	Ctg/Atg	0	validated		probablydamaging	
C11orf42		inserm.fr	GRCh37	11	6232141	6232141	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC1061T																					ENST00000316375.2:c.872-1G>A		p.X291_splice	ENST00000316375	NM_173525.2			0	validated		damaging	
RTEL1		inserm.fr	GRCh37	20	62324169	62324169	+	synonymous_variant	Silent	SNP	G	A	A			CHC432T																					ENST00000508582.2:c.2736G>A	p.Val912=	p.V912=	ENST00000508582		912	gtG/gtA	0	not done		synonymous	
ARFRP1		inserm.fr	GRCh37	20	62332024	62332024	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000359715.5:c.448G>T	p.Ala150Ser	p.A150S	ENST00000359715		150	Gcc/Tcc	0	validated		benign	
ERICH1		inserm.fr	GRCh37	8	623400	623400	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB307T									Valid												ENST00000262109.7:c.952G>T	p.Gly318Trp	p.G318W	ENST00000262109	NM_207332.1	318	Ggg/Tgg	0	validated		probablydamaging	
ZGPAT		inserm.fr	GRCh37	20	62340441	62340441	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2052T																					ENST00000328969.5:c.509T>A	p.Leu170Gln	p.L170Q	ENST00000328969	NM_032527.4	170	cTg/cAg	0	not done		probablydamaging	
TUT1		inserm.fr	GRCh37	11	62359018	62359018	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2351T																					ENST00000308436.7:c.54G>T	p.Trp18Cys	p.W18C	ENST00000308436	NM_022830.2	18	tgG/tgT	0	not done		benign	
SLC2A4RG		inserm.fr	GRCh37	20	62373747	62373747	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC432T																					ENST00000266077.2:c.739G>A	p.Asp247Asn	p.D247N	ENST00000266077	NM_020062.3	247	Gat/Aat	0	not done		probablydamaging	
SLC2A4RG		inserm.fr	GRCh37	20	62374054	62374054	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	A	A			CHC1715T																					ENST00000266077.2:c.963C>A	p.Gly321=	p.G321=	ENST00000266077	NM_020062.3	321	ggC/ggA	0	validated		synonymous	
ZBTB46		inserm.fr	GRCh37	20	62378440	62378440	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000245663.4:c.1613C>T	p.Pro538Leu	p.P538L	ENST00000245663	NM_025224.3	538	cCt/cTt	0	not done		benign	
FAM160A2		inserm.fr	GRCh37	11	6239185	6239185	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC121T									Valid												ENST00000265978.4:c.1673C>T	p.Pro558Leu	p.P558L	ENST00000265978	NM_032127.3	558	cCt/cTt	0	validated		benign	
ZBTB46		inserm.fr	GRCh37	20	62407152	62407152	+	synonymous_variant	Silent	SNP	C	A	A			CHC2103T																					ENST00000245663.4:c.1101G>T	p.Val367=	p.V367=	ENST00000245663	NM_025224.3	367	gtG/gtT	0	not done		synonymous	
INTS5		inserm.fr	GRCh37	11	62416162	62416162	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1720T																					ENST00000330574.2:c.1390C>T	p.Pro464Ser	p.P464S	ENST00000330574	NM_030628.1	464	Ccg/Tcg	0	validated		possiblydamaging	
ZBTB46		inserm.fr	GRCh37	20	62421936	62421936	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000245663.4:c.175C>T	p.Leu59Phe	p.L59F	ENST00000245663	NM_025224.3	59	Ctc/Ttc	0	not done		probablydamaging	
UBXN1		inserm.fr	GRCh37	11	62444305	62444305	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1763T																					ENST00000294119.2:c.824A>T	p.Glu275Val	p.E275V	ENST00000294119	NM_015853.3	275	gAg/gTg	0	not done		possiblydamaging	
C2CD4B		inserm.fr	GRCh37	15	62457006	62457006	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1190T																					ENST00000380392.3:c.178G>T	p.Ala60Ser	p.A60S	ENST00000380392	NM_001007595.2	60	Gct/Tct	0	validated		benign	
C2CD4B		inserm.fr	GRCh37	15	62457027	62457027	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1192T																					ENST00000380392.3:c.157G>T	p.Ala53Ser	p.A53S	ENST00000380392	NM_001007595.2	53	Gcc/Tcc	0	validated		benign	
PIGQ		inserm.fr	GRCh37	16	624634	624634	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000026218.5:c.560G>A	p.Arg187Gln	p.R187Q	ENST00000026218	NM_148920.2	187	cGg/cAg	0	not done		probablydamaging	
RPL22		inserm.fr	GRCh37	1	6246788	6246788	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1601T																					ENST00000234875.4:c.331G>T	p.Glu111Ter	p.E111*	ENST00000234875	NM_000983.3	111	Gaa/Taa	0	not done		damaging	
CADPS		inserm.fr	GRCh37	3	62478041	62478041	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000383710.4:c.2808C>T	p.Ala936=	p.A936=	ENST00000383710	NM_003716.3	936	gcC/gcT	0	not done		synonymous	
HNRNPUL2		inserm.fr	GRCh37	11	62494299	62494299	+	synonymous_variant	Silent	SNP	C	A	A			CHC796T																					ENST00000301785.5:c.330G>T	p.Pro110=	p.P110=	ENST00000301785	NM_001079559.2	110	ccG/ccT	0	validated		synonymous	
RPL22		inserm.fr	GRCh37	1	6253059	6253059	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000234875.4:c.173G>T	p.Gly58Val	p.G58V	ENST00000234875	NM_000983.3	58	gGa/gTa	0	not done		possiblydamaging	
RPL22		inserm.fr	GRCh37	1	6253072	6253072	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1738T																					ENST00000234875.4:c.160G>T	p.Gly54Trp	p.G54W	ENST00000234875	NM_000983.3	54	Ggg/Tgg	0	not done		probablydamaging	
IL33		inserm.fr	GRCh37	9	6254462	6254462	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000381434.3:c.521G>A	p.Gly174Asp	p.G174D	ENST00000381434	NM_033439.3	174	gGt/gAt	0	not done		possiblydamaging	
SYT16		inserm.fr	GRCh37	14	62547802	62547802	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000430451.2:c.1244G>A	p.Arg415Lys	p.R415K	ENST00000430451	NM_031914.2	415	aGg/aAg	0	not done		benign	
TAF6L		inserm.fr	GRCh37	11	62549652	62549652	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB301T																					ENST00000294168.3:c.674G>A	p.Arg225His	p.R225H	ENST00000294168	NM_006473.3	225	cGt/cAt	0	validated		benign	
UCKL1		inserm.fr	GRCh37	20	62571959	62571959	+	synonymous_variant	Silent	SNP	G	A	A			CHC1757T																					ENST00000354216.6:c.1290C>T	p.Thr430=	p.T430=	ENST00000354216	NM_017859.3	430	acC/acT	0	not done		synonymous	
PFKFB3		inserm.fr	GRCh37	10	6258137	6258137	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000379775.4:c.349G>A	p.Glu117Lys	p.E117K	ENST00000379775	NM_004566.3	117	Gaa/Aaa	0	not done		possiblydamaging	
INADL		inserm.fr	GRCh37	1	62593710	62593710	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC327T																					ENST00000371158.2:c.5110G>A	p.Val1704Ile	p.V1704I	ENST00000371158	NM_176877.2	1704	Gta/Ata	0	validated		benign	
LPHN3		inserm.fr	GRCh37	4	62598531	62598531	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1592T																					ENST00000514591.1:c.454G>A	p.Asp152Asn	p.D152N	ENST00000514591		152	Gac/Aac	0	not done		probablydamaging	
CNGA4		inserm.fr	GRCh37	11	6261799	6261799	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000379936.2:c.775G>A	p.Ala259Thr	p.A259T	ENST00000379936	NM_001037329.3	259	Gcc/Acc	0	validated		probablydamaging	
CNGA4		inserm.fr	GRCh37	11	6261897	6261897	+	synonymous_variant	Silent	SNP	G	A	A			BCM265T																					ENST00000379936.2:c.873G>A	p.Lys291=	p.K291=	ENST00000379936	NM_001037329.3	291	aaG/aaA	0	validated		synonymous	
RHOBTB1		inserm.fr	GRCh37	10	62648156	62648156	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC465T									Valid												ENST00000337910.5:c.1270G>T	p.Asp424Tyr	p.D424Y	ENST00000337910	NM_001242359.1	424	Gat/Tat	0	validated		probablydamaging	
RHOBTB1		inserm.fr	GRCh37	10	62648247	62648247	+	synonymous_variant	Silent	SNP	C	A	A			CHC1186T																					ENST00000337910.5:c.1179G>T	p.Arg393=	p.R393=	ENST00000337910	NM_001242359.1	393	cgG/cgT	0	not done		synonymous	
RHOBTB1		inserm.fr	GRCh37	10	62652626	62652626	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1531T																					ENST00000337910.5:c.424C>T	p.Leu142Phe	p.L142F	ENST00000337910	NM_001242359.1	142	Ctt/Ttt	0	not done		probablydamaging	
PFKFB3		inserm.fr	GRCh37	10	6265970	6265970	+	synonymous_variant	Silent	SNP	G	A	A			CHC1754T																					ENST00000379775.4:c.1263G>A	p.Thr421=	p.T421=	ENST00000379775	NM_004566.3	421	acG/acA	0	not done		synonymous	
LPHN3		inserm.fr	GRCh37	4	62679527	62679527	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000514591.1:c.1196G>A	p.Gly399Glu	p.G399E	ENST00000514591		399	gGg/gAg	0	not done		benign	
SOX18		inserm.fr	GRCh37	20	62680186	62680186	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000340356.7:c.488G>T	p.Arg163Leu	p.R163L	ENST00000340356	NM_018419.2	163	cGc/cTc	0	not done		probablydamaging	
CLUL1		inserm.fr	GRCh37	18	627113	627113	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000400606.2:c.440G>A	p.Arg147Lys	p.R147K	ENST00000400606	NM_014410.4	147	aGg/aAg	0	not done		benign	
CADPS		inserm.fr	GRCh37	3	62739323	62739323	+	synonymous_variant	Silent	SNP	G	A	A			BCB167T																					ENST00000383710.4:c.681C>T	p.Gly227=	p.G227=	ENST00000383710	NM_003716.3	227	ggC/ggT	0	validated		synonymous	
KANK4		inserm.fr	GRCh37	1	62739495	62739495	+	synonymous_variant	Silent	SNP	C	A	A			BCM683T																					ENST00000371153.4:c.1281G>T	p.Ser427=	p.S427=	ENST00000371153	NM_181712.4	427	tcG/tcT	0	validated		synonymous	
PFKFB3		inserm.fr	GRCh37	10	6274857	6274857	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC2208T																					ENST00000379775.4:c.1516-1G>A		p.X506_splice	ENST00000379775	NM_004566.3			0	not done		damaging	
SLC22A6		inserm.fr	GRCh37	11	62752031	62752031	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000377871.3:c.132C>T	p.Ile44=	p.I44=	ENST00000377871	NM_153278.2	44	atC/atT	0	not done		synonymous	
SLC22A8		inserm.fr	GRCh37	11	62762028	62762028	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000336232.2:c.1202C>T	p.Thr401Ile	p.T401I	ENST00000336232	NM_001184736.1	401	aCc/aTc	0	not done		benign	
LPHN3		inserm.fr	GRCh37	4	62813870	62813870	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000514591.1:c.2477G>A	p.Arg826His	p.R826H	ENST00000514591		826	cGt/cAt	0	not done		probablydamaging	
MYT1		inserm.fr	GRCh37	20	62850302	62850302	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000328439.1:c.1885G>A	p.Ala629Thr	p.A629T	ENST00000328439	NM_004535.2	629	Gct/Act	0	not done		probablydamaging	
WFS1		inserm.fr	GRCh37	4	6293066	6293066	+	synonymous_variant	Silent	SNP	G	A	A			CHC1746T																					ENST00000226760.1:c.603G>A	p.Leu201=	p.L201=	ENST00000226760	NM_001145853.1	201	ctG/ctA	0	not done		synonymous	
MCPH1		inserm.fr	GRCh37	8	6302719	6302719	+	synonymous_variant	Silent	SNP	C	A	A			CHC1041T																					ENST00000344683.5:c.1476C>A	p.Gly492=	p.G492=	ENST00000344683	NM_024596.3	492	ggC/ggA	0	validated		synonymous	
WFS1		inserm.fr	GRCh37	4	6302843	6302843	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000226760.1:c.1321G>A	p.Val441Met	p.V441M	ENST00000226760	NM_001145853.1	441	Gtg/Atg	0	not done		possiblydamaging	
TLN2		inserm.fr	GRCh37	15	63032928	63032928	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000561311.1:c.3985G>A	p.Gly1329Arg	p.G1329R	ENST00000561311		1329	Gga/Aga	0	not done		possiblydamaging	
HES3		inserm.fr	GRCh37	1	6305342	6305342	+	synonymous_variant	Silent	SNP	G	A	A			BCM439T																					ENST00000377898.3:c.336G>A	p.Glu112=	p.E112=	ENST00000377898	NM_001024598.3	112	gaG/gaA	0	validated		synonymous	
ACER1		inserm.fr	GRCh37	19	6306763	6306763	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000301452.4:c.757C>T	p.Pro253Ser	p.P253S	ENST00000301452	NM_133492.2	253	Ccc/Tcc	0	not done		probablydamaging	
TLN2		inserm.fr	GRCh37	15	63076055	63076055	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000561311.1:c.5702G>A	p.Gly1901Asp	p.G1901D	ENST00000561311		1901	gGc/gAc	0	not done		probablydamaging	
GPR153		inserm.fr	GRCh37	1	6311446	6311446	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000377893.2:c.931C>T	p.Arg311Trp	p.R311W	ENST00000377893	NM_207370.2	311	Cgg/Tgg	0	validated		benign	
GPR153		inserm.fr	GRCh37	1	6311561	6311561	+	synonymous_variant	Silent	SNP	G	A	A			BCM545T																					ENST00000377893.2:c.816C>T	p.Asp272=	p.D272=	ENST00000377893	NM_207370.2	272	gaC/gaT	0	validated		synonymous	
RGS9		inserm.fr	GRCh37	17	63154443	63154443	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262406.9:c.185G>A	p.Arg62Gln	p.R62Q	ENST00000262406	NM_003835.3	62	cGg/cAg	0	not done		probablydamaging	
KCNH5		inserm.fr	GRCh37	14	63174543	63174543	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1602T																					ENST00000322893.7:c.2650C>T	p.Pro884Ser	p.P884S	ENST00000322893	NM_139318.4	884	Ccg/Tcg	0	not done		benign	
RGS9		inserm.fr	GRCh37	17	63206650	63206650	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262406.9:c.1334G>A	p.Ser445Asn	p.S445N	ENST00000262406	NM_003835.3	445	aGc/aAc	0	not done		probablydamaging	
EHBP1		inserm.fr	GRCh37	2	63215098	63215098	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM325T																					ENST00000263991.5:c.2746G>A	p.Glu916Lys	p.E916K	ENST00000263991	NM_015252.3	916	Gag/Aag	0	validated		probablydamaging	
RGS9		inserm.fr	GRCh37	17	63223431	63223431	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262406.9:c.1931G>A	p.Gly644Glu	p.G644E	ENST00000262406	NM_003835.3	644	gGg/gAg	0	not done		possiblydamaging	
KCNH5		inserm.fr	GRCh37	14	63246517	63246517	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000322893.7:c.1948C>T	p.Leu650=	p.L650=	ENST00000322893	NM_139318.4	650	Ctg/Ttg	0	not done		synonymous	
KCNH5		inserm.fr	GRCh37	14	63246599	63246599	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000322893.7:c.1866C>T	p.Thr622=	p.T622=	ENST00000322893	NM_139318.4	622	acC/acT	0	not done		synonymous	
PPP2R2C		inserm.fr	GRCh37	4	6325152	6325152	+	synonymous_variant	Silent	SNP	G	A	A			BCM337T																					ENST00000335585.5:c.1221C>T	p.Asp407=	p.D407=	ENST00000335585	NM_181876.2	407	gaC/gaT	0	validated		synonymous	
HTR1A		inserm.fr	GRCh37	5	63256287	63256287	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000323865.3:c.1260C>T	p.Cys420=	p.C420=	ENST00000323865	NM_000524.3	420	tgC/tgT	0	not done		synonymous	
HTR1A		inserm.fr	GRCh37	5	63257520	63257520	+	synonymous_variant	Silent	SNP	G	A	A			CHC1079T																					ENST00000323865.3:c.27C>T	p.Gly9=	p.G9=	ENST00000323865	NM_000524.3	9	ggC/ggT	0	not done		synonymous	
AIPL1		inserm.fr	GRCh37	17	6328905	6328905	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1743T																					ENST00000381129.3:c.1030G>T	p.Ala344Ser	p.A344S	ENST00000381129	NM_014336.3	344	Gca/Tca	0	not done		benign	
AIPL1		inserm.fr	GRCh37	17	6329030	6329030	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2034T																					ENST00000381129.3:c.905G>T	p.Arg302Leu	p.R302L	ENST00000381129	NM_014336.3	302	cGc/cTc	0	not done		benign	
AIPL1		inserm.fr	GRCh37	17	6330331	6330331	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC306T									Valid												ENST00000381129.3:c.512A>T	p.Asn171Ile	p.N171I	ENST00000381129	NM_014336.3	171	aAt/aTt	0	validated		probablydamaging	
PRKCDBP		inserm.fr	GRCh37	11	6340566	6340566	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC884T																					ENST00000303927.3:c.613A>T	p.Thr205Ser	p.T205S	ENST00000303927	NM_145040.2	205	Acc/Tcc	0	validated		probablydamaging	
FAM123B		inserm.fr	GRCh37	X	63410107	63410107	+	synonymous_variant	Silent	SNP	T	A	A			CHC302T																					ENST00000330258.3:c.3060A>T	p.Leu1020=	p.L1020=	ENST00000330258	NM_152424.3	1020	ctA/ctT	0	validated		synonymous	
FAM123B		inserm.fr	GRCh37	X	63411299	63411299	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000330258.3:c.1868C>T	p.Ala623Val	p.A623V	ENST00000330258	NM_152424.3	623	gCc/gTc	0	not done		benign	
FAM123B		inserm.fr	GRCh37	X	63411438	63411438	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM683T																					ENST00000330258.3:c.1729C>T	p.Gln577Ter	p.Q577*	ENST00000330258	NM_152424.3	577	Cag/Tag	0	validated		damaging	
FAM123B		inserm.fr	GRCh37	X	63411789	63411789	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1742T																					ENST00000330258.3:c.1378C>T	p.Gln460Ter	p.Q460*	ENST00000330258	NM_152424.3	460	Cag/Tag	0	not done		damaging	
FAM123B		inserm.fr	GRCh37	X	63413108	63413108	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000330258.3:c.59C>T	p.Thr20Ile	p.T20I	ENST00000330258	NM_152424.3	20	aCc/aTc	0	not done		benign	
LACTB		inserm.fr	GRCh37	15	63414424	63414424	+	synonymous_variant	Silent	SNP	C	A	A			BCB307T																					ENST00000261893.4:c.354C>A	p.Ile118=	p.I118=	ENST00000261893	NM_032857.3	118	atC/atA	0	validated		synonymous	
ATL3		inserm.fr	GRCh37	11	63420025	63420025	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2216T																					ENST00000398868.3:c.428C>T	p.Thr143Ile	p.T143I	ENST00000398868	NM_015459.3	143	aCc/aTc	0	not done		probablydamaging	
RTN3		inserm.fr	GRCh37	11	63487065	63487065	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC789T																					ENST00000377819.5:c.1091G>A	p.Gly364Glu	p.G364E	ENST00000377819	NM_001265589.1	364	gGa/gAa	0	not done		probablydamaging	
CDH7		inserm.fr	GRCh37	18	63489354	63489354	+	synonymous_variant	Silent	SNP	G	A	A			CHC1738T																					ENST00000397968.2:c.663G>A	p.Glu221=	p.E221=	ENST00000397968	NM_004361.2	221	gaG/gaA	0	not done		synonymous	
CDH7		inserm.fr	GRCh37	18	63489425	63489425	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000397968.2:c.734C>A	p.Thr245Asn	p.T245N	ENST00000397968	NM_004361.2	245	aCt/aAt	0	not done		possiblydamaging	
ZNF727		inserm.fr	GRCh37	7	63537952	63537952	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1556T																					ENST00000550760.3:c.525T>A	p.Cys175Ter	p.C175*	ENST00000550760	NM_001159522.1	175	tgT/tgA	0	not done		damaging	
AXIN2		inserm.fr	GRCh37	16	63554147	63554147			NA		C	A				CHC1732T																													not done		damaging	
AXIN2		inserm.fr	GRCh37	17	63554187	63554187	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2048T																					ENST00000307078.5:c.552A>T	p.Glu184Asp	p.E184D	ENST00000307078	NM_004655.3	184	gaA/gaT	0	not done		benign	
APH1B		inserm.fr	GRCh37	15	63571372	63571372	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC736T									Valid												ENST00000261879.5:c.126G>A	p.Trp42Ter	p.W42*	ENST00000261879	NM_031301.3	42	tgG/tgA	0	validated		damaging	
C11orf84		inserm.fr	GRCh37	11	63585302	63585302	+	synonymous_variant	Silent	SNP	G	A	A			CHC793T																					ENST00000294244.4:c.153G>A	p.Pro51=	p.P51=	ENST00000294244	NM_138471.1	51	ccG/ccA	0	validated		synonymous	
C11orf84		inserm.fr	GRCh37	11	63586323	63586323	+	synonymous_variant	Silent	SNP	G	A	A			CHC1154T																					ENST00000294244.4:c.783G>A	p.Glu261=	p.E261=	ENST00000294244	NM_138471.1	261	gaG/gaA	0	not done		synonymous	
SYNPR		inserm.fr	GRCh37	3	63594857	63594857	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000478300.1:c.465G>A	p.Trp155Ter	p.W155*	ENST00000478300	NM_001130003.1	155	tgG/tgA	0	not done		damaging	
ANGPT2		inserm.fr	GRCh37	8	6360655	6360655	+	synonymous_variant	Silent	SNP	G	A	A			CHC451T																					ENST00000325203.5:c.1458C>T	p.Ala486=	p.A486=	ENST00000325203		486	gcC/gcT	0	not done		synonymous	
SNTN		inserm.fr	GRCh37	3	63640449	63640449	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM695T																					ENST00000343837.3:c.122C>A	p.Ser41Tyr	p.S41Y	ENST00000343837	NM_001080537.1	41	tCc/tAc	0	validated		possiblydamaging	
MARK2		inserm.fr	GRCh37	11	63668470	63668470	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000402010.2:c.1030G>A	p.Asp344Asn	p.D344N	ENST00000402010	NM_001039469.2	344	Gac/Aac	0	not done		benign	
PSPN		inserm.fr	GRCh37	19	6375551	6375551	+	synonymous_variant	Silent	SNP	C	A	A			CHC322T																					ENST00000245810.1:c.225G>T	p.Val75=	p.V75=	ENST00000245810	NM_004158.2	75	gtG/gtT	0	validated		synonymous	
FOXD3		inserm.fr	GRCh37	1	63789973	63789973	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC912T									Valid												ENST00000371116.2:c.1244C>A	p.Ser415Ter	p.S415*	ENST00000371116	NM_012183.2	415	tCg/tAg	0	validated		damaging	
MACROD1		inserm.fr	GRCh37	11	63918821	63918821	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2098T																					ENST00000255681.6:c.407C>T	p.Ala136Val	p.A136V	ENST00000255681	NM_014067.3	136	gCt/gTt	0	not done		benign	
HERC1		inserm.fr	GRCh37	15	63926053	63926053	+	synonymous_variant	Silent	SNP	T	A	A			CHC2099T																					ENST00000443617.2:c.12687A>T	p.Ser4229=	p.S4229=	ENST00000443617	NM_003922.3	4229	tcA/tcT	0	not done		synonymous	
GGH		inserm.fr	GRCh37	8	63936670	63936670	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM711T																					ENST00000260118.6:c.575C>T	p.Ala192Val	p.A192V	ENST00000260118	NM_003878.2	192	gCc/gTc	0	validated		possiblydamaging	
DRD4		inserm.fr	GRCh37	11	639498	639498	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1720T																					ENST00000176183.5:c.351G>A	p.Met117Ile	p.M117I	ENST00000176183	NM_000797.3	117	atG/atA	0	not done		probablydamaging	
ATXN7		inserm.fr	GRCh37	3	63965680	63965680	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1601T																					ENST00000398590.3:c.589G>A	p.Gly197Arg	p.G197R	ENST00000398590	NM_001177387.1	197	Gga/Aga	0	not done		possiblydamaging	
ATXN7		inserm.fr	GRCh37	3	63967896	63967896	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC303T									Valid												ENST00000398590.3:c.787C>A	p.Pro263Thr	p.P263T	ENST00000398590	NM_001177387.1	263	Ccg/Acg	0	validated		probablydamaging	
TTPA		inserm.fr	GRCh37	8	63973970	63973970	+	synonymous_variant	Silent	SNP	C	A	A			CHC1736T																					ENST00000260116.4:c.678G>T	p.Gly226=	p.G226=	ENST00000260116	NM_000370.3	226	ggG/ggT	0	not done		synonymous	
DPY19L2		inserm.fr	GRCh37	12	63976301	63976301	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000324472.4:c.1610C>T	p.Ala537Val	p.A537V	ENST00000324472	NM_173812.4	537	gCt/gTt	0	not done		benign	
FERMT3		inserm.fr	GRCh37	11	63978540	63978540	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000279227.5:c.411G>A	p.Glu137=	p.E137=	ENST00000279227	NM_178443.2	137	gaG/gaA	0	not done		synonymous	
ATXN7		inserm.fr	GRCh37	3	63982047	63982047	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1600T																					ENST00000398590.3:c.2549G>A	p.Ser850Asn	p.S850N	ENST00000398590	NM_001177387.1	850	aGc/aAc	0	not done		benign	
HERC1		inserm.fr	GRCh37	15	63986692	63986692	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1749T																					ENST00000443617.2:c.5299C>T	p.Pro1767Ser	p.P1767S	ENST00000443617	NM_003922.3	1767	Cca/Tca	0	not done		probablydamaging	
RTKN2		inserm.fr	GRCh37	10	63999475	63999475	+	synonymous_variant	Silent	SNP	C	A	A			CHC304T																					ENST00000373789.3:c.420G>T	p.Val140=	p.V140=	ENST00000373789	NM_145307.2	140	gtG/gtT	0	validated		synonymous	
PLCB3		inserm.fr	GRCh37	11	64033489	64033489	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1616T																					ENST00000540288.1:c.3167G>A	p.Arg1056Gln	p.R1056Q	ENST00000540288	NM_000932.2	1056	cGg/cAg	0	not done		benign	
CEP112		inserm.fr	GRCh37	17	64066073	64066073	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC909T																					ENST00000392769.2:c.815A>T	p.Lys272Met	p.K272M	ENST00000392769	NM_145036.3	272	aAg/aTg	0	not done		probablydamaging	
HERC1		inserm.fr	GRCh37	15	64067252	64067252	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1201T																					ENST00000443617.2:c.571G>T	p.Asp191Tyr	p.D191Y	ENST00000443617	NM_003922.3	191	Gat/Tat	0	not done		probablydamaging	
TRMT112		inserm.fr	GRCh37	11	64084783	64084783	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2216T																					ENST00000544844.1:c.133A>T	p.Met45Leu	p.M45L	ENST00000544844		45	Atg/Ttg	0	not done		probablydamaging	
PRICKLE2		inserm.fr	GRCh37	3	64085381	64085381	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000295902.6:c.1881C>T	p.Pro627=	p.P627=	ENST00000295902	NM_198859.3	627	ccC/ccT	0	not done		synonymous	
YTHDF3		inserm.fr	GRCh37	8	64098997	64098997	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1600T																					ENST00000539294.1:c.425G>A	p.Gly142Glu	p.G142E	ENST00000539294	NM_001277817.1	142	gGa/gAa	0	not done		possiblydamaging	
CCDC88B		inserm.fr	GRCh37	11	64111038	64111038	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000356786.5:c.1269G>A	p.Glu423=	p.E423=	ENST00000356786	NM_032251.5	423	gaG/gaA	0	not done		synonymous	
CCDC88B		inserm.fr	GRCh37	11	64122853	64122853	+	synonymous_variant	Silent	SNP	G	A	A			CHC1738T																					ENST00000356786.5:c.4287G>A	p.Ala1429=	p.A1429=	ENST00000356786	NM_032251.5	1429	gcG/gcA	0	not done		synonymous	
RPS6KA4		inserm.fr	GRCh37	11	64127961	64127961	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000334205.4:c.359G>A	p.Gly120Asp	p.G120D	ENST00000334205	NM_003942.2	120	gGc/gAc	0	not done		probablydamaging	
SMPD1		inserm.fr	GRCh37	11	6413000	6413000	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000342245.4:c.705G>A	p.Leu235=	p.L235=	ENST00000342245	NM_001007593.2	235	ctG/ctA	0	not done		synonymous	
PRICKLE2		inserm.fr	GRCh37	3	64133071	64133071	+	synonymous_variant	Silent	SNP	C	A	A			CHC891T																					ENST00000295902.6:c.1095G>T	p.Leu365=	p.L365=	ENST00000295902	NM_198859.3	365	ctG/ctT	0	not done		synonymous	
RPS6KA4		inserm.fr	GRCh37	11	64135660	64135660	+	synonymous_variant	Silent	SNP	C	A	A			BCM397T																					ENST00000334205.4:c.1128C>A	p.Thr376=	p.T376=	ENST00000334205	NM_003942.2	376	acC/acA	0	validated		synonymous	
ZC4H2		inserm.fr	GRCh37	X	64140049	64140049	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000374839.3:c.310C>T	p.Leu104=	p.L104=	ENST00000374839	NM_018684.3	104	Ctg/Ttg	0	not done		synonymous	
VPS54		inserm.fr	GRCh37	2	64161096	64161096	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC469T									Valid												ENST00000272322.4:c.1450C>T	p.Gln484Ter	p.Q484*	ENST00000272322		484	Caa/Taa	0	validated		damaging	
KHSRP		inserm.fr	GRCh37	19	6416378	6416378	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1192T																					ENST00000398148.3:c.1529G>T	p.Gly510Val	p.G510V	ENST00000398148	NM_003685.2	510	gGc/gTc	0	not done		probablydamaging	
ZNF107		inserm.fr	GRCh37	7	64168612	64168612	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC155T																					ENST00000395391.1:c.1930G>A	p.Ala644Thr	p.A644T	ENST00000395391		644	Gcc/Acc	0	validated		probablydamaging	
CEP112		inserm.fr	GRCh37	17	64179375	64179375	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000392769.2:c.43G>T	p.Ala15Ser	p.A15S	ENST00000392769	NM_145036.3	15	Gca/Tca	0	not done		benign	
KHSRP		inserm.fr	GRCh37	19	6419224	6419224	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1731T																					ENST00000398148.3:c.595G>T	p.Glu199Ter	p.E199*	ENST00000398148	NM_003685.2	199	Gaa/Taa	0	not done		damaging	
SLC22A11		inserm.fr	GRCh37	11	64323673	64323673	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000301891.4:c.202G>A	p.Ala68Thr	p.A68T	ENST00000301891	NM_018484.2	68	Gcc/Acc	0	validated		possiblydamaging	
SLC22A11		inserm.fr	GRCh37	11	64326639	64326639	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000301891.4:c.426G>A	p.Lys142=	p.K142=	ENST00000301891	NM_018484.2	142	aaG/aaA	0	not done		synonymous	
SLC22A11		inserm.fr	GRCh37	11	64336251	64336251	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000301891.4:c.1382+1G>A		p.X461_splice	ENST00000301891	NM_018484.2			0	not done		damaging	
FAM96A		inserm.fr	GRCh37	15	64365167	64365167	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1598T																					ENST00000300030.3:c.446G>T	p.Arg149Leu	p.R149L	ENST00000300030	NM_032231.4	149	cGg/cTg	0	not done		probablydamaging	
NRXN2		inserm.fr	GRCh37	11	64375221	64375221	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000265459.6:c.4586C>T	p.Pro1529Leu	p.P1529L	ENST00000265459	NM_015080.3	1529	cCc/cTc	0	not done		benign	
ZNF365		inserm.fr	GRCh37	10	64383007	64383007	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1192T																					ENST00000410046.3:c.1126G>A	p.Ala376Thr	p.A376T	ENST00000410046	NM_199451.2	376	Gca/Aca	0	not done		benign	
TNFRSF1A		inserm.fr	GRCh37	12	6438745	6438745	+	synonymous_variant	Silent	SNP	G	A	A			CHC451T																					ENST00000162749.2:c.1101C>T	p.Pro367=	p.P367=	ENST00000162749	NM_001065.3	367	ccC/ccT	0	not done		synonymous	
NRXN2		inserm.fr	GRCh37	11	64390480	64390480	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000265459.6:c.3918C>T	p.Phe1306=	p.F1306=	ENST00000265459	NM_015080.3	1306	ttC/ttT	0	not done		synonymous	
ZNF365		inserm.fr	GRCh37	10	64425916	64425916	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000410046.3:c.1248G>A	p.Arg416=	p.R416=	ENST00000410046	NM_199451.2	416	agG/agA	0	not done		synonymous	
NRXN2		inserm.fr	GRCh37	11	64435999	64435999	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000265459.6:c.1275C>T	p.Asp425=	p.D425=	ENST00000265459	NM_015080.3	425	gaC/gaT	0	not done		synonymous	
ZNF117		inserm.fr	GRCh37	7	64439686	64439686	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1742T																					ENST00000282869.6:c.263A>T	p.Glu88Val	p.E88V	ENST00000282869	NM_015852.3	88	gAa/gTa	0	validated		benign	
ZNF117		inserm.fr	GRCh37	7	64439872	64439872	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1052T									Valid												ENST00000282869.6:c.77A>T	p.Asn26Ile	p.N26I	ENST00000282869	NM_015852.3	26	aAc/aTc	0	validated		probablydamaging	
NRXN2		inserm.fr	GRCh37	11	64453141	64453141	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC902T																					ENST00000265459.6:c.1129C>T	p.Arg377Trp	p.R377W	ENST00000265459	NM_015080.3	377	Cgg/Tgg	0	not done		probablydamaging	
SYNE2		inserm.fr	GRCh37	14	64473846	64473846	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1601T																					ENST00000358025.3:c.4483C>A	p.Pro1495Thr	p.P1495T	ENST00000358025	NM_182914.2	1495	Cca/Aca	0	not done		probablydamaging	
SCRT2		inserm.fr	GRCh37	20	644765	644765	+	synonymous_variant	Silent	SNP	G	A	A			CHC469T																					ENST00000246104.6:c.474C>T	p.Ala158=	p.A158=	ENST00000246104	NM_033129.3	158	gcC/gcT	0	validated		synonymous	
NRXN2		inserm.fr	GRCh37	11	64480533	64480533	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000265459.6:c.639C>T	p.Cys213=	p.C213=	ENST00000265459	NM_015080.3	213	tgC/tgT	0	not done		synonymous	
SYNE2		inserm.fr	GRCh37	14	64488747	64488747	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC1201T																					ENST00000358025.3:c.5524+1G>A		p.X1842_splice	ENST00000358025	NM_182914.2			0	not done		possiblydamaging	
UBE2QL1		inserm.fr	GRCh37	5	6449129	6449129	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC437T																					ENST00000399816.3:c.123G>A	p.Trp41Ter	p.W41*	ENST00000399816	NM_001145161.2	41	tgG/tgA	0	not done		damaging	
ADAMTS6		inserm.fr	GRCh37	5	64510736	64510736	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000381055.3:c.2460G>T	p.Leu820Phe	p.L820F	ENST00000381055	NM_197941.2	820	ttG/ttT	0	not done		possiblydamaging	
DAGLB		inserm.fr	GRCh37	7	6456518	6456518	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC902T																					ENST00000297056.6:c.1253G>T	p.Arg418Leu	p.R418L	ENST00000297056	NM_139179.3	418	cGa/cTa	0	not done		benign	
MEN1		inserm.fr	GRCh37	11	64577560	64577560	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC2216T																					ENST00000337652.1:c.22A>T	p.Lys8Ter	p.K8*	ENST00000337652	NM_130803.2	8	Aag/Tag	0	not done		damaging	
ADAMTS9		inserm.fr	GRCh37	3	64587888	64587888	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1028T																					ENST00000498707.1:c.3749G>T	p.Cys1250Phe	p.C1250F	ENST00000498707	NM_182920.1	1250	tGc/tTc	0	not done		probablydamaging	
CDC42BPG		inserm.fr	GRCh37	11	64597492	64597492	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC320T																					ENST00000342711.5:c.3418C>T	p.Pro1140Ser	p.P1140S	ENST00000342711	NM_017525.2	1140	Ccc/Tcc	0	validated		benign	
ADAMTS9		inserm.fr	GRCh37	3	64627650	64627650	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC301T									Valid												ENST00000498707.1:c.1730G>T	p.Cys577Phe	p.C577F	ENST00000498707	NM_182920.1	577	tGt/tTt	0	validated		probablydamaging	
ADAMTS9		inserm.fr	GRCh37	3	64640135	64640135	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC301T									Valid												ENST00000498707.1:c.1211-1G>T		p.X404_splice	ENST00000498707	NM_182920.1			0	validated		damaging	
ROR1		inserm.fr	GRCh37	1	64643579	64643579	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM723T																					ENST00000371079.1:c.1855C>A	p.Arg619Ser	p.R619S	ENST00000371079	NM_005012.3	619	Cgc/Agc	0	validated		probablydamaging	
EHD1		inserm.fr	GRCh37	11	64645911	64645911	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM265T																					ENST00000320631.3:c.26C>T	p.Ala9Val	p.A9V	ENST00000320631	NM_006795.2	9	gCc/gTc	0	validated		benign	
ATG2A		inserm.fr	GRCh37	11	64662454	64662454	+	synonymous_variant	Silent	SNP	G	A	A			CHC1061T																					ENST00000377264.3:c.5808C>T	p.Ala1936=	p.A1936=	ENST00000377264	NM_015104.2	1936	gcC/gcT	0	validated		synonymous	
DAGLB		inserm.fr	GRCh37	7	6470151	6470151	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC258T																					ENST00000297056.6:c.889A>T	p.Arg297Ter	p.R297*	ENST00000297056	NM_139179.3	297	Aga/Tga	0	validated		damaging	
TRIP4		inserm.fr	GRCh37	15	64706333	64706333	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC218T																					ENST00000261884.3:c.1093C>A	p.Leu365Met	p.L365M	ENST00000261884	NM_016213.4	365	Ctg/Atg	0	validated		benign	
UBE2U		inserm.fr	GRCh37	1	64707375	64707375	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM265T									Valid												ENST00000371076.3:c.636G>A	p.Trp212Ter	p.W212*	ENST00000371076	NM_152489.1	212	tgG/tgA	0	validated		damaging	
PRKCA		inserm.fr	GRCh37	17	64737787	64737787	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1743T																					ENST00000413366.3:c.1333G>A	p.Ala445Thr	p.A445T	ENST00000413366	NM_002737.2	445	Gca/Aca	0	not done		probablydamaging	
DENND1C		inserm.fr	GRCh37	19	6478844	6478844	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC059T																					ENST00000381480.2:c.316G>T	p.Val106Leu	p.V106L	ENST00000381480	NM_024898.2	106	Gtg/Ttg	0	validated		benign	
HES2		inserm.fr	GRCh37	1	6479040	6479040	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1211T																					ENST00000377834.4:c.415C>T	p.Pro139Ser	p.P139S	ENST00000377834	NM_019089.4	139	Ccg/Tcg	0	validated		benign	
MCPH1		inserm.fr	GRCh37	8	6479110	6479110	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000344683.5:c.2350G>A	p.Gly784Ser	p.G784S	ENST00000344683	NM_024596.3	784	Ggc/Agc	0	not done		probablydamaging	
SAC3D1		inserm.fr	GRCh37	11	64809046	64809046	+	synonymous_variant	Silent	SNP	C	A	A			CHC197T																					ENST00000398846.1:c.282C>A	p.Arg94=	p.R94=	ENST00000398846	NM_013299.3	94	cgC/cgA	0	validated		synonymous	
NAALADL1		inserm.fr	GRCh37	11	64815820	64815820	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000358658.3:c.1236C>T	p.Ser412=	p.S412=	ENST00000358658	NM_005468.2	412	agC/agT	0	not done		synonymous	
ZFPL1		inserm.fr	GRCh37	11	64854810	64854810	+	synonymous_variant	Silent	SNP	G	A	A			CHC218T																					ENST00000294258.3:c.651G>A	p.Thr217=	p.T217=	ENST00000294258	NM_006782.3	217	acG/acA	0	not done		synonymous	
PPWD1		inserm.fr	GRCh37	5	64859187	64859187	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC798T									Valid												ENST00000261308.5:c.50G>A	p.Arg17Gln	p.R17Q	ENST00000261308	NM_001278927.1	17	cGg/cAg	0	validated		possiblydamaging	
ZNF92		inserm.fr	GRCh37	7	64864267	64864267	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC798T																					ENST00000328747.7:c.1240G>A	p.Glu414Lys	p.E414K	ENST00000328747	NM_152626.2	414	Gaa/Aaa	0	validated		benign	
UHRF2		inserm.fr	GRCh37	9	6486916	6486916	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000276893.5:c.1488G>A	p.Ala496=	p.A496=	ENST00000276893	NM_152896.2	496	gcG/gcA	0	not done		synonymous	
TM7SF2		inserm.fr	GRCh37	11	64879988	64879988	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	A	A			CHC736T																					ENST00000279263.7:c.54C>A	p.Gly18=	p.G18=	ENST00000279263	NM_003273.3	18	ggC/ggA	0	validated		synonymous	
MTHFD1		inserm.fr	GRCh37	14	64908772	64908772	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000216605.8:c.1885G>A	p.Gly629Ser	p.G629S	ENST00000216605	NM_005956.3	629	Ggc/Agc	0	not done		probablydamaging	
TRAPPC13		inserm.fr	GRCh37	5	64931132	64931132	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1750T																					ENST00000438419.2:c.51G>A	p.Met17Ile	p.M17I	ENST00000438419		17	atG/atA	0	not done		probablydamaging	
JMJD1C		inserm.fr	GRCh37	10	64952899	64952899	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC796T									Valid												ENST00000399262.2:c.5875G>T	p.Val1959Phe	p.V1959F	ENST00000399262	NM_032776.1	1959	Gtt/Ttt	0	validated		probablydamaging	
ZBTB25		inserm.fr	GRCh37	14	64953902	64953902	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC258T																					ENST00000608382.1:c.1047G>T	p.Met349Ile	p.M349I	ENST00000608382	NM_006977.2	349	atG/atT	0	validated		benign	
TRAPPC13		inserm.fr	GRCh37	5	64957927	64957927	+	synonymous_variant	Silent	SNP	C	A	A			CHC1185T																					ENST00000438419.2:c.948C>A	p.Thr316=	p.T316=	ENST00000438419		316	acC/acA	0	not done		synonymous	
TUBB4A		inserm.fr	GRCh37	19	6495940	6495940	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000264071.2:c.570C>T	p.His190=	p.H190=	ENST00000264071		190	caC/caT	0	not done		synonymous	
JMJD1C		inserm.fr	GRCh37	10	64967560	64967560	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1763T																					ENST00000399262.2:c.3869A>T	p.His1290Leu	p.H1290L	ENST00000399262	NM_032776.1	1290	cAt/cTt	0	not done		probablydamaging	
ZNF609		inserm.fr	GRCh37	15	64970511	64970511	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1531T																					ENST00000326648.3:c.3599G>A	p.Arg1200His	p.R1200H	ENST00000326648	NM_015042.1	1200	cGc/cAc	0	not done		probablydamaging	
OAZ2		inserm.fr	GRCh37	15	64981338	64981338	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM275T									Valid												ENST00000326005.6:c.384G>T	p.Glu128Asp	p.E128D	ENST00000326005	NM_002537.2	128	gaG/gaT	0	validated		damaging	
OAZ2		inserm.fr	GRCh37	15	64982737	64982737	+	synonymous_variant	Silent	SNP	G	A	A			BCM543T																					ENST00000326005.6:c.189C>T	p.Leu63=	p.L63=	ENST00000326005	NM_002537.2	63	ctC/ctT	0	validated			
CDH11		inserm.fr	GRCh37	16	65005846	65005846	+	synonymous_variant	Silent	SNP	T	A	A			CHC1091T																					ENST00000268603.4:c.1512A>T	p.Pro504=	p.P504=	ENST00000268603	NM_001797.2	504	ccA/ccT	0	validated		synonymous	
PPP1R36		inserm.fr	GRCh37	14	65032384	65032384	+	synonymous_variant	Silent	SNP	G	A	A			CHC909T																					ENST00000298705.1:c.408G>A	p.Arg136=	p.R136=	ENST00000298705	NM_172365.1	136	cgG/cgA	0	not done		synonymous	
CDH11		inserm.fr	GRCh37	16	65032482	65032482	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000268603.4:c.506C>T	p.Pro169Leu	p.P169L	ENST00000268603	NM_001797.2	169	cCt/cTt	0	not done		possiblydamaging	
ESPN		inserm.fr	GRCh37	1	6505736	6505736	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2111T																					ENST00000377828.1:c.1205C>A	p.Ala402Asp	p.A402D	ENST00000377828	NM_031475.2	402	gCt/gAt	0	validated		benign	
NLN		inserm.fr	GRCh37	5	65084047	65084047	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000380985.5:c.1061G>A	p.Gly354Glu	p.G354E	ENST00000380985	NM_020726.4	354	gGg/gAg	0	not done		benign	
NLN		inserm.fr	GRCh37	5	65088372	65088372	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000380985.5:c.1417G>A	p.Val473Met	p.V473M	ENST00000380985	NM_020726.4	473	Gtg/Atg	0	validated		probablydamaging	
HELZ		inserm.fr	GRCh37	17	65105663	65105663	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC303T																					ENST00000358691.5:c.4058A>T	p.Tyr1353Phe	p.Y1353F	ENST00000358691	NM_014877.3	1353	tAt/tTt	0	validated		benign	
DPF2		inserm.fr	GRCh37	11	65108963	65108963	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000528416.1:c.395G>A	p.Gly132Asp	p.G132D	ENST00000528416	NM_006268.4	132	gGt/gAt	0	not done		benign	
PIF1		inserm.fr	GRCh37	15	65113409	65113409	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000268043.4:c.1043C>T	p.Pro348Leu	p.P348L	ENST00000268043		348	cCa/cTa	0	not done		probablydamaging	
CACHD1		inserm.fr	GRCh37	1	65143854	65143854	+	synonymous_variant	Silent	SNP	G	A	A			CHC1183T																					ENST00000290039.5:c.2952G>A	p.Gly984=	p.G984=	ENST00000290039	NM_020925.2	984	ggG/ggA	0	not done		synonymous	
GNS		inserm.fr	GRCh37	12	65152910	65152910	+	synonymous_variant	Silent	SNP	C	A	A			CHC304T																					ENST00000258145.3:c.147G>T	p.Val49=	p.V49=	ENST00000258145	NM_002076.3	49	gtG/gtT	0	validated		synonymous	
DSEL		inserm.fr	GRCh37	18	65178918	65178918	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000310045.7:c.2958C>T	p.Gly986=	p.G986=	ENST00000310045	NM_032160.2	986	ggC/ggT	0	validated		synonymous	
PLEKHG3		inserm.fr	GRCh37	14	65197546	65197546	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC437T																					ENST00000247226.7:c.428G>A	p.Arg143Gln	p.R143Q	ENST00000247226	NM_015549.1	143	cGg/cAg	0	not done		benign	
PLEKHG3		inserm.fr	GRCh37	14	65208743	65208743	+	synonymous_variant	Silent	SNP	G	A	A			CHC879T																					ENST00000247226.7:c.2340G>A	p.Gln780=	p.Q780=	ENST00000247226	NM_015549.1	780	caG/caA	0	not done		synonymous	
SPTB		inserm.fr	GRCh37	14	65239303	65239303	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2034T																					ENST00000389722.3:c.5548G>T	p.Val1850Phe	p.V1850F	ENST00000389722	NM_001024858.2	1850	Gtc/Ttc	0	not done		benign	
SLC1A4		inserm.fr	GRCh37	2	65248227	65248227	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000234256.3:c.1546G>A	p.Ala516Thr	p.A516T	ENST00000234256	NM_003038.4	516	Gct/Act	0	validated		benign	
SPTB		inserm.fr	GRCh37	14	65250974	65250974	+	synonymous_variant	Silent	SNP	G	A	A			CHC1148T																					ENST00000389722.3:c.3993C>T	p.Asn1331=	p.N1331=	ENST00000389722	NM_001024858.2	1331	aaC/aaT	0	validated		synonymous	
SPTB		inserm.fr	GRCh37	14	65258555	65258555	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM791T																					ENST00000389722.3:c.2686G>T	p.Glu896Ter	p.E896*	ENST00000389722	NM_001024858.2	896	Gag/Tag	0	validated		damaging	
SPTB		inserm.fr	GRCh37	14	65266537	65266537	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2052T																					ENST00000389722.3:c.992C>T	p.Ala331Val	p.A331V	ENST00000389722	NM_001024858.2	331	gCc/gTc	0	not done		possiblydamaging	
SPTB		inserm.fr	GRCh37	14	65267577	65267577	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM423T																					ENST00000389722.3:c.773C>T	p.Thr258Met	p.T258M	ENST00000389722	NM_001024858.2	258	aCg/aTg	0	validated		possiblydamaging	
EYS		inserm.fr	GRCh37	6	65301883	65301883	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC1704T																					ENST00000503581.1:c.3878-1G>T		p.X1293_splice	ENST00000503581	NM_001142800.1			0	not done		possiblydamaging	
LTBP3		inserm.fr	GRCh37	11	65310640	65310640	+	synonymous_variant	Silent	SNP	G	A	A			CHC429T																					ENST00000301873.5:c.2532C>T	p.Thr844=	p.T844=	ENST00000301873	NM_001130144.2	844	acC/acT	0	validated		synonymous	
LTBP3		inserm.fr	GRCh37	11	65315006	65315006	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000301873.5:c.2011G>T	p.Gly671Cys	p.G671C	ENST00000301873	NM_001130144.2	671	Ggc/Tgc	0	not done		probablydamaging	
ERBB2IP		inserm.fr	GRCh37	5	65319192	65319192	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000506030.1:c.672G>A	p.Gly224=	p.G224=	ENST00000506030		224	ggG/ggA	0	not done		damaging	
ERBB2IP		inserm.fr	GRCh37	5	65321369	65321369	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC451T																					ENST00000506030.1:c.879C>A	p.Asp293Glu	p.D293E	ENST00000506030		293	gaC/gaA	0	validated		probablydamaging	
MTFMT		inserm.fr	GRCh37	15	65321854	65321854	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1205T																					ENST00000220058.4:c.98G>T	p.Gly33Val	p.G33V	ENST00000220058	NM_139242.3	33	gGc/gTc	0	not done		possiblydamaging	
EYS		inserm.fr	GRCh37	6	65327383	65327383	+	synonymous_variant	Silent	SNP	G	A	A			CHC1040T																					ENST00000503581.1:c.3612C>T	p.Pro1204=	p.P1204=	ENST00000503581	NM_001142800.1	1204	ccC/ccT	0	not done		synonymous	
PSMD12		inserm.fr	GRCh37	17	65340826	65340826	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCB151T																					ENST00000356126.3:c.979G>T	p.Glu327Ter	p.E327*	ENST00000356126	NM_002816.3	327	Gaa/Taa	0	validated		damaging	
MAGI1		inserm.fr	GRCh37	3	65342122	65342122	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM723T																					ENST00000402939.2:c.4320A>T	p.Arg1440Ser	p.R1440S	ENST00000402939	NM_001033057.1	1440	agA/agT	0	validated		benign	
ERBB2IP		inserm.fr	GRCh37	5	65350420	65350420	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000506030.1:c.3274G>A	p.Gly1092Ser	p.G1092S	ENST00000506030		1092	Ggc/Agc	0	not done		possiblydamaging	
EHBP1L1		inserm.fr	GRCh37	11	65359721	65359721	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T									Valid												ENST00000309295.4:c.4520G>A	p.Arg1507His	p.R1507H	ENST00000309295	NM_001099409.1	1507	cGc/cAc	0	validated		probablydamaging	
MAGI1		inserm.fr	GRCh37	3	65365020	65365020	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T																					ENST00000402939.2:c.2911G>T	p.Val971Leu	p.V971L	ENST00000402939	NM_001033057.1	971	Gtg/Ttg	0	validated		benign	
MAP3K11		inserm.fr	GRCh37	11	65366021	65366021	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB111T									Valid												ENST00000309100.3:c.2285G>T	p.Gly762Val	p.G762V	ENST00000309100	NM_002419.3	762	gGc/gTc	0	validated		possiblydamaging	
MAGI1		inserm.fr	GRCh37	3	65367726	65367726	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T									Valid												ENST00000402939.2:c.2527G>T	p.Val843Leu	p.V843L	ENST00000402939	NM_001033057.1	843	Gta/Tta	0	validated		probablydamaging	
MAGI1		inserm.fr	GRCh37	3	65387123	65387123	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000402939.2:c.2190C>T	p.Ser730=	p.S730=	ENST00000402939	NM_001033057.1	730	agC/agT	0	not done		synonymous	
HEPH		inserm.fr	GRCh37	X	65393611	65393611	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000519389.1:c.755G>A	p.Gly252Asp	p.G252D	ENST00000519389		252	gGc/gAc	0	not done		probablydamaging	
SIPA1		inserm.fr	GRCh37	11	65408986	65408986	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000394224.3:c.594G>A	p.Glu198=	p.E198=	ENST00000394224	NM_153253.29	198	gaG/gaA	0	not done		synonymous	
HEPH		inserm.fr	GRCh37	X	65409697	65409697	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB109T									Valid												ENST00000519389.1:c.1142C>A	p.Pro381Gln	p.P381Q	ENST00000519389		381	cCa/cAa	0	validated		probablydamaging	
B4GALNT3		inserm.fr	GRCh37	12	654140	654140	+	splice_donor_variant	Splice_Site	SNP	T	A	A			BCM339T																					ENST00000266383.5:c.538+2T>A		p.X180_splice	ENST00000266383	NM_173593.3			0	validated		damaging	
GRID2IP		inserm.fr	GRCh37	7	6541717	6541717	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000457091.2:c.3183C>T	p.Ser1061=	p.S1061=	ENST00000457091	NM_001145118.1	1061	tcC/tcT	0	not done		synonymous	
GUSB		inserm.fr	GRCh37	7	65440019	65440019	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1603T																					ENST00000304895.4:c.952G>T	p.Asp318Tyr	p.D318Y	ENST00000304895	NM_000181.3	318	Gac/Tac	0	not done		probablydamaging	
GUSB		inserm.fr	GRCh37	7	65445365	65445365	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2113T																					ENST00000304895.4:c.242C>T	p.Ser81Phe	p.S81F	ENST00000304895	NM_000181.3	81	tCc/tTc	0	not done		probablydamaging	
ACTR2		inserm.fr	GRCh37	2	65467029	65467029	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1915T																					ENST00000377982.4:c.92T>A	p.Ile31Asn	p.I31N	ENST00000377982	NM_001005386.2	31	aTc/aAc	0	validated		possiblydamaging	
KAT5		inserm.fr	GRCh37	11	65482371	65482371	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB325T									Valid												ENST00000341318.4:c.1019G>A	p.Arg340His	p.R340H	ENST00000341318	NM_182710.2	340	cGt/cAt	0	validated		probablydamaging	
BHLHE22		inserm.fr	GRCh37	8	65493546	65493546	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1053T									Valid												ENST00000321870.1:c.199C>A	p.Pro67Thr	p.P67T	ENST00000321870	NM_152414.4	67	Ccg/Acg	0	validated		possiblydamaging	
BHLHE22		inserm.fr	GRCh37	8	65493633	65493633	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000321870.1:c.286G>A	p.Gly96Ser	p.G96S	ENST00000321870	NM_152414.4	96	Ggc/Agc	0	not done		probablydamaging	
CYP7B1		inserm.fr	GRCh37	8	65509365	65509365	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC303T									Valid												ENST00000310193.3:c.1355G>T	p.Arg452Leu	p.R452L	ENST00000310193	NM_004820.3	452	cGa/cTa	0	validated		probablydamaging	
AP5B1		inserm.fr	GRCh37	11	65546915	65546915	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000532090.2:c.1049G>T	p.Arg350Leu	p.R350L	ENST00000532090	NM_138368.4	350	cGg/cTg	0	not done		probablydamaging	
LEMD3		inserm.fr	GRCh37	12	65563885	65563885	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM735T																					ENST00000308330.2:c.509T>A	p.Leu170His	p.L170H	ENST00000308330	NM_014319.4	170	cTc/cAc	0	validated		probablydamaging	
CD27		inserm.fr	GRCh37	12	6559381	6559381	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC896T																					ENST00000266557.3:c.311G>A	p.Cys104Tyr	p.C104Y	ENST00000266557	NM_001242.4	104	tGt/tAt	0	not done		probablydamaging	
FIBP		inserm.fr	GRCh37	11	65655572	65655572	+	synonymous_variant	Silent	SNP	C	A	A			CHC1035T																					ENST00000338369.2:c.117G>T	p.Ser39=	p.S39=	ENST00000338369	NM_198897.1	39	tcG/tcT	0	validated		synonymous	
IGDCC4		inserm.fr	GRCh37	15	65682660	65682660	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC301T																					ENST00000352385.2:c.2241G>T	p.Arg747Ser	p.R747S	ENST00000352385	NM_020962.1	747	agG/agT	0	validated		benign	
IGDCC4		inserm.fr	GRCh37	15	65682660	65682660	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC609T																					ENST00000352385.2:c.2241G>T	p.Arg747Ser	p.R747S	ENST00000352385	NM_020962.1	747	agG/agT	0	validated		benign	
IGDCC4		inserm.fr	GRCh37	15	65688186	65688186	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM397T																					ENST00000352385.2:c.1313C>T	p.Thr438Met	p.T438M	ENST00000352385	NM_020962.1	438	aCg/aTg	0	validated		probablydamaging	
DNHD1		inserm.fr	GRCh37	11	6568896	6568896	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1211T																					ENST00000254579.6:c.6727G>A	p.Glu2243Lys	p.E2243K	ENST00000254579	NM_144666.2	2243	Gag/Aag	0	not done		possiblydamaging	
NOL11		inserm.fr	GRCh37	17	65714146	65714146	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000253247.4:c.83G>A	p.Ser28Asn	p.S28N	ENST00000253247	NM_015462.3	28	aGc/aAc	0	not done		benign	
NOL11		inserm.fr	GRCh37	17	65739876	65739876	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000253247.4:c.2061G>A	p.Glu687=	p.E687=	ENST00000253247	NM_015462.3	687	gaG/gaA	0	not done		synonymous	
DPP8		inserm.fr	GRCh37	15	65746753	65746753	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC097T																					ENST00000341861.5:c.2167G>T	p.Gly723Cys	p.G723C	ENST00000341861	NM_197960.2	723	Ggt/Tgt	0	not done		probablydamaging	
DPP8		inserm.fr	GRCh37	15	65746754	65746754	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC097T																					ENST00000341861.5:c.2167-1G>T		p.X723_splice	ENST00000341861	NM_197960.2			0	not done		possiblydamaging	
DPP8		inserm.fr	GRCh37	15	65766548	65766548	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	A	A			CHC2200T																					ENST00000341861.5:c.1583A>T	p.Asn528Ile	p.N528I	ENST00000341861	NM_197960.2	528	aAt/aTt	0	not done		damaging	
CATSPER1		inserm.fr	GRCh37	11	65788623	65788623	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000312106.5:c.1725C>T	p.Thr575=	p.T575=	ENST00000312106	NM_053054.3	575	acC/acT	0	not done		synonymous	
CATSPER1		inserm.fr	GRCh37	11	65790352	65790352	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000312106.5:c.1397C>T	p.Ala466Val	p.A466V	ENST00000312106	NM_053054.3	466	gCc/gTc	0	not done		benign	
CATSPER1		inserm.fr	GRCh37	11	65793352	65793352	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000312106.5:c.499C>T	p.Pro167Ser	p.P167S	ENST00000312106	NM_053054.3	167	Ccc/Tcc	0	not done		benign	
GAL3ST3		inserm.fr	GRCh37	11	65810144	65810144	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1742T																					ENST00000312006.4:c.1130C>T	p.Ala377Val	p.A377V	ENST00000312006	NM_033036.2	377	gCc/gTc	0	not done		possiblydamaging	
GAL3ST3		inserm.fr	GRCh37	11	65810270	65810270	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM325T									Valid												ENST00000312006.4:c.1004G>T	p.Cys335Phe	p.C335F	ENST00000312006	NM_033036.2	335	tGc/tTc	0	validated		probablydamaging	
GAL3ST3		inserm.fr	GRCh37	11	65810776	65810776	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000312006.4:c.498C>T	p.Asn166=	p.N166=	ENST00000312006	NM_033036.2	166	aaC/aaT	0	not done		synonymous	
GAL3ST3		inserm.fr	GRCh37	11	65810985	65810985	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000312006.4:c.289C>T	p.Pro97Ser	p.P97S	ENST00000312006	NM_033036.2	97	Ccg/Tcg	0	not done		probablydamaging	
EDA2R		inserm.fr	GRCh37	X	65819500	65819500	+	synonymous_variant	Silent	SNP	G	A	A			BCM423T																					ENST00000450752.1:c.783C>T	p.Thr261=	p.T261=	ENST00000450752		261	acC/acT	0	validated		synonymous	
SF3B2		inserm.fr	GRCh37	11	65835682	65835682	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1035T									Valid												ENST00000322535.6:c.2494G>A	p.Glu832Lys	p.E832K	ENST00000322535	NM_006842.2	832	Gag/Aag	0	validated		probablydamaging	
BPTF		inserm.fr	GRCh37	17	65889580	65889580	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000306378.6:c.2150G>A	p.Gly717Asp	p.G717D	ENST00000306378	NM_182641.3	717	gGt/gAt	0	not done		probablydamaging	
MAN2B2		inserm.fr	GRCh37	4	6590840	6590840	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000285599.3:c.633G>A	p.Met211Ile	p.M211I	ENST00000285599	NM_015274.1	211	atG/atA	0	not done		possiblydamaging	
BPTF		inserm.fr	GRCh37	17	65914915	65914915	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000306378.6:c.5389G>A	p.Ala1797Thr	p.A1797T	ENST00000306378	NM_182641.3	1797	Gcg/Acg	0	not done		possiblydamaging	
SLC24A1		inserm.fr	GRCh37	15	65916520	65916520	+	synonymous_variant	Silent	SNP	C	A	A			BCM339T																					ENST00000261892.6:c.102C>A	p.Ile34=	p.I34=	ENST00000261892	NM_004727.2	34	atC/atA	0	validated		synonymous	
BPTF		inserm.fr	GRCh37	17	65941808	65941808	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000306378.6:c.6984G>A	p.Gln2328=	p.Q2328=	ENST00000306378	NM_182641.3	2328	caG/caA	0	not done		synonymous	
DENND4A		inserm.fr	GRCh37	15	65957032	65957032	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1746T																					ENST00000443035.3:c.5385G>T	p.Leu1795Phe	p.L1795F	ENST00000443035	NM_001144823.1	1795	ttG/ttT	0	not done		probablydamaging	
PACS1		inserm.fr	GRCh37	11	65988625	65988625	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000320580.4:c.1200G>A	p.Lys400=	p.K400=	ENST00000320580	NM_018026.3	400	aaG/aaA	0	not done		damaging	
KPNA2		inserm.fr	GRCh37	17	66036850	66036850	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000537025.2:c.270G>A	p.Val90=	p.V90=	ENST00000537025		90	gtG/gtA	0	not done		synonymous	
TMEM151A		inserm.fr	GRCh37	11	66062554	66062554	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000327259.4:c.837G>A	p.Pro279=	p.P279=	ENST00000327259	NM_153266.3	279	ccG/ccA	0	not done		synonymous	
TMEM151A		inserm.fr	GRCh37	11	66062816	66062816	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000327259.4:c.1099G>A	p.Gly367Ser	p.G367S	ENST00000327259	NM_153266.3	367	Ggc/Agc	0	not done		benign	
CD248		inserm.fr	GRCh37	11	66083264	66083264	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T									Valid												ENST00000311330.3:c.1235C>T	p.Pro412Leu	p.P412L	ENST00000311330	NM_020404.2	412	cCg/cTg	0	validated		possiblydamaging	
EYS		inserm.fr	GRCh37	6	66094324	66094324	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000503581.1:c.1254C>T	p.Asn418=	p.N418=	ENST00000503581	NM_001142800.1	418	aaC/aaT	0	not done		synonymous	
B3GNT1		inserm.fr	GRCh37	11	66114707	66114707	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM399T									Valid												ENST00000311181.4:c.310G>T	p.Asp104Tyr	p.D104Y	ENST00000311181	NM_006876.2	104	Gac/Tac	0	validated		probablydamaging	
AGPAT5		inserm.fr	GRCh37	8	6612659	6612659	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000285518.6:c.833G>A	p.Arg278Lys	p.R278K	ENST00000285518	NM_018361.3	278	aGa/aAa	0	not done		benign	
SLC29A2		inserm.fr	GRCh37	11	66133665	66133665	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2127T																					ENST00000357440.2:c.905C>T	p.Thr302Ile	p.T302I	ENST00000357440	NM_001532.2	302	aCa/aTa	0	not done		benign	
NPAS4		inserm.fr	GRCh37	11	66191355	66191355	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM617T																					ENST00000311034.2:c.994C>A	p.Gln332Lys	p.Q332K	ENST00000311034	NM_178864.3	332	Cag/Aag	0	validated		benign	
NPAS4		inserm.fr	GRCh37	11	66192300	66192300	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM337T																					ENST00000311034.2:c.1939G>A	p.Asp647Asn	p.D647N	ENST00000311034	NM_178864.3	647	Gac/Aac	0	validated		probablydamaging	
ZDHHC4		inserm.fr	GRCh37	7	6621743	6621743	+	synonymous_variant	Silent	SNP	G	A	A			CHC2358T																					ENST00000396706.2:c.231G>A	p.Gly77=	p.G77=	ENST00000396706		77	ggG/ggA	0	validated		synonymous	
EPHA5		inserm.fr	GRCh37	4	66233102	66233102	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC051T									Valid												ENST00000273854.3:c.1897G>T	p.Glu633Ter	p.E633*	ENST00000273854	NM_004439.5	633	Gaa/Taa	0	validated		damaging	
DPP3		inserm.fr	GRCh37	11	66259028	66259028	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000360510.2:c.862G>A	p.Gly288Ser	p.G288S	ENST00000360510		288	Ggc/Agc	0	not done		probablydamaging	
BBS1		inserm.fr	GRCh37	11	66278488	66278488	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1746T																					ENST00000318312.7:c.52G>A	p.Glu18Lys	p.E18K	ENST00000318312	NM_024649.4	18	Gag/Aag	0	not done		possiblydamaging	
ACTN3		inserm.fr	GRCh37	11	66322647	66322647	+	downstream_gene_variant	3'Flank	SNP	C	A	A			CHC1744T																								ENST00000504911				0	not done		probablydamaging	
CTSF		inserm.fr	GRCh37	11	66335832	66335832	+	synonymous_variant	Silent	SNP	G	A	A			CHC1616T																					ENST00000310325.5:c.126C>T	p.Pro42=	p.P42=	ENST00000310325	NM_003793.3	42	ccC/ccT	0	validated		synonymous	
RBM14		inserm.fr	GRCh37	11	66392140	66392140	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000310137.4:c.793C>A	p.Pro265Thr	p.P265T	ENST00000310137	NM_006328.3	265	Ccc/Acc	0	not done		possiblydamaging	
RBM14		inserm.fr	GRCh37	11	66392342	66392342	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000310137.4:c.995G>A	p.Gly332Glu	p.G332E	ENST00000310137	NM_006328.3	332	gGg/gAg	0	not done		probablydamaging	
CDH5		inserm.fr	GRCh37	16	66420990	66420990	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000341529.3:c.489G>A	p.Ser163=	p.S163=	ENST00000341529	NM_001795.3	163	tcG/tcA	0	not done		synonymous	
CDH5		inserm.fr	GRCh37	16	66423360	66423360	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1774T																					ENST00000341529.3:c.716C>A	p.Ser239Ter	p.S239*	ENST00000341529	NM_001795.3	239	tCg/tAg	0	validated		damaging	
LRIG1		inserm.fr	GRCh37	3	66433827	66433827	+	splice_acceptor_variant	Splice_Site	SNP	T	A	A			CHC218T																					ENST00000273261.3:c.2072-2A>T		p.X691_splice	ENST00000273261	NM_015541.2			0	validated		possiblydamaging	
CDH5		inserm.fr	GRCh37	16	66434889	66434889	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000341529.3:c.1807G>A	p.Ala603Thr	p.A603T	ENST00000341529	NM_001795.3	603	Gcc/Acc	0	validated		probablydamaging	
MAST4		inserm.fr	GRCh37	5	66459886	66459886	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1600T																					ENST00000403625.2:c.4879G>A	p.Ala1627Thr	p.A1627T	ENST00000403625	NM_001164664.1	1627	Gcg/Acg	0	not done		benign	
CD180		inserm.fr	GRCh37	5	66480212	66480212	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000256447.4:c.459C>T	p.Ser153=	p.S153=	ENST00000256447	NM_005582.2	153	agC/agT	0	not done		synonymous	
TYW1		inserm.fr	GRCh37	7	66520849	66520849	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM483T																					ENST00000359626.5:c.1130G>A	p.Gly377Glu	p.G377E	ENST00000359626	NM_018264.3	377	gGg/gAg	0	validated		probablydamaging	
DCHS1		inserm.fr	GRCh37	11	6652935	6652935	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1154T																					ENST00000299441.3:c.3587C>T	p.Thr1196Ile	p.T1196I	ENST00000299441	NM_003737.2	1196	aCt/aTt	0	not done		probablydamaging	
DCHS1		inserm.fr	GRCh37	11	6654847	6654847	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC205T									Valid												ENST00000299441.3:c.2251C>T	p.Arg751Trp	p.R751W	ENST00000299441	NM_003737.2	751	Cgg/Tgg	0	validated		probablydamaging	
DCHS1		inserm.fr	GRCh37	11	6655207	6655207	+	synonymous_variant	Silent	SNP	G	A	A			BCM711T																					ENST00000299441.3:c.2031C>T	p.Asp677=	p.D677=	ENST00000299441	NM_003737.2	677	gaC/gaT	0	validated		synonymous	
CKLF		inserm.fr	GRCh37	16	66586693	66586693	+	synonymous_variant	Silent	SNP	G	A	A			BCM617T																					ENST00000264001.4:c.75G>A	p.Arg25=	p.R25=	ENST00000264001	NM_016951.3	25	cgG/cgA	0	validated		synonymous	
RCE1		inserm.fr	GRCh37	11	66611510	66611510	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			BCM739T																					ENST00000309657.3:c.372G>A	p.Met124Ile	p.M124I	ENST00000309657	NM_005133.2	124	atG/atA	0	validated		damaging	
PC		inserm.fr	GRCh37	11	66617558	66617558	+	synonymous_variant	Silent	SNP	G	A	A			CHC1531T																					ENST00000393960.1:c.2748C>T	p.Asp916=	p.D916=	ENST00000393960	NM_001040716.1	916	gaC/gaT	0	not done		synonymous	
DCHS1		inserm.fr	GRCh37	11	6662145	6662145	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000299441.3:c.700C>T	p.Pro234Ser	p.P234S	ENST00000299441	NM_003737.2	234	Ccc/Tcc	0	not done		probablydamaging	
ZNF853		inserm.fr	GRCh37	7	6662232	6662232	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000457543.3:c.1610G>A	p.Gly537Asp	p.G537D	ENST00000457543	NM_017560.1	537	gGc/gAc	0	validated		probablydamaging	
LRFN4		inserm.fr	GRCh37	11	66626371	66626371	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1741T																					ENST00000309602.4:c.1156C>A	p.Pro386Thr	p.P386T	ENST00000309602	NM_024036.4	386	Ccc/Acc	0	not done		possiblydamaging	
XAF1		inserm.fr	GRCh37	17	6663013	6663013	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000361842.3:c.201G>A	p.Gln67=	p.Q67=	ENST00000361842	NM_017523.3	67	caG/caA	0	not done		synonymous	
PDE7A		inserm.fr	GRCh37	8	66631559	66631559	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1717T																					ENST00000401827.3:c.1415C>T	p.Ser472Leu	p.S472L	ENST00000401827	NM_001242318.2	472	tCa/tTa	0	not done		probablydamaging	
XAF1		inserm.fr	GRCh37	17	6663845	6663845	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000361842.3:c.346G>A	p.Gly116Ser	p.G116S	ENST00000361842	NM_017523.3	116	Ggc/Agc	0	not done		benign	
TIPIN		inserm.fr	GRCh37	15	66645194	66645194	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1747T																					ENST00000261881.4:c.92C>T	p.Ser31Phe	p.S31F	ENST00000261881	NM_017858.2	31	tCt/tTt	0	not done		probablydamaging	
TNFSF14		inserm.fr	GRCh37	19	6665211	6665211	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1602T																					ENST00000599359.1:c.449G>T	p.Gly150Val	p.G150V	ENST00000599359		150	gGc/gTc	0	not done		probablydamaging	
MEIS1		inserm.fr	GRCh37	2	66668556	66668556	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2215T																					ENST00000272369.9:c.443C>A	p.Ala148Asp	p.A148D	ENST00000272369	NM_002398.2	148	gCc/gAc	0	validated		probablydamaging	
XKR5		inserm.fr	GRCh37	8	6669027	6669027	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000518724.1:n.1905C>T		*635*	ENST00000518724				0	not done			
MEIS1		inserm.fr	GRCh37	2	66739403	66739403	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000272369.9:c.865G>A	p.Ala289Thr	p.A289T	ENST00000272369	NM_002398.2	289	Gcg/Acg	0	not done		probablydamaging	
MAP2K1		inserm.fr	GRCh37	15	66774123	66774123	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1725T									Valid												ENST00000307102.5:c.599C>A	p.Ser200Tyr	p.S200Y	ENST00000307102	NM_002755.3	200	tCc/tAc	0	validated		probablydamaging	
C3		inserm.fr	GRCh37	19	6677998	6677998	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1053T									Valid												ENST00000245907.6:c.4887G>T	p.Glu1629Asp	p.E1629D	ENST00000245907	NM_000064.2	1629	gaG/gaT	0	validated		probablydamaging	
MAP2K1		inserm.fr	GRCh37	15	66781569	66781569	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2111T																					ENST00000307102.5:c.977C>A	p.Pro326His	p.P326H	ENST00000307102	NM_002755.3	326	cCc/cAc	0	validated		probablydamaging	
RPL4		inserm.fr	GRCh37	15	66793308	66793308	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC909T																					ENST00000307961.6:c.812C>T	p.Ala271Val	p.A271V	ENST00000307961	NM_000968.3	271	gCt/gTt	0	not done		probablydamaging	
SYT12		inserm.fr	GRCh37	11	66807569	66807569	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000393946.2:c.516G>A	p.Ala172=	p.A172=	ENST00000393946		172	gcG/gcA	0	not done		synonymous	
FBXO39		inserm.fr	GRCh37	17	6683525	6683525	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2111T																					ENST00000321535.4:c.338G>A	p.Arg113Gln	p.R113Q	ENST00000321535	NM_153230.2	113	cGg/cAg	0	not done		probablydamaging	
FBXO39		inserm.fr	GRCh37	17	6683618	6683618	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1611T																					ENST00000321535.4:c.431G>A	p.Ser144Asn	p.S144N	ENST00000321535	NM_153230.2	144	aGc/aAc	0	not done		benign	
FBXO39		inserm.fr	GRCh37	17	6684090	6684090	+	synonymous_variant	Silent	SNP	C	A	A			CHC1717T																					ENST00000321535.4:c.903C>A	p.Ile301=	p.I301=	ENST00000321535	NM_153230.2	301	atC/atA	0	not done		synonymous	
LCTL		inserm.fr	GRCh37	15	66855888	66855888	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000341509.5:c.446C>T	p.Pro149Leu	p.P149L	ENST00000341509	NM_207338.3	149	cCc/cTc	0	not done		probablydamaging	
AR		inserm.fr	GRCh37	X	66905888	66905888	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC609T									Valid												ENST00000374690.3:c.1805G>A	p.Cys602Tyr	p.C602Y	ENST00000374690	NM_000044.3	602	tGc/tAc	0	validated		probablydamaging	
AR		inserm.fr	GRCh37	X	66941800	66941800	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000374690.3:c.2444G>A	p.Ser815Asn	p.S815N	ENST00000374690	NM_000044.3	815	aGc/aAc	0	not done		probablydamaging	
CDH16		inserm.fr	GRCh37	16	66951578	66951578	+	synonymous_variant	Silent	SNP	G	A	A			CHC898T																					ENST00000299752.4:c.96C>T	p.Asn32=	p.N32=	ENST00000299752	NM_001204744.1	32	aaC/aaT	0	not done		synonymous	
RRAD		inserm.fr	GRCh37	16	66956073	66956073	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC917T																					ENST00000299759.6:c.833C>T	p.Ala278Val	p.A278V	ENST00000299759		278	gCg/gTg	0	validated		probablydamaging	
CES2		inserm.fr	GRCh37	16	66971990	66971990	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000317091.4:c.319G>A	p.Gly107Arg	p.G107R	ENST00000317091	NM_003869.5	107	Ggg/Agg	0	not done		probablydamaging	
CES2		inserm.fr	GRCh37	16	66976559	66976559	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000317091.4:c.1483G>A	p.Ala495Thr	p.A495T	ENST00000317091	NM_003869.5	495	Gcc/Acc	0	not done		possiblydamaging	
ABCA9		inserm.fr	GRCh37	17	66982355	66982355	+	synonymous_variant	Silent	SNP	G	A	A			BCM397T																					ENST00000340001.4:c.4158C>T	p.Tyr1386=	p.Y1386=	ENST00000340001	NM_080283.3	1386	taC/taT	0	validated		synonymous	
KDM2A		inserm.fr	GRCh37	11	67012659	67012659	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000529006.2:c.1564-1G>A		p.X522_splice	ENST00000529006	NM_012308.2			0	not done		damaging	
CES4A		inserm.fr	GRCh37	16	67035302	67035302	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T									Valid												ENST00000540947.2:c.628G>A	p.Gly210Arg	p.G210R	ENST00000540947	NM_173815.6	210	Gga/Aga	0	validated		probablydamaging	
ADRBK1		inserm.fr	GRCh37	11	67049014	67049014	+	synonymous_variant	Silent	SNP	G	A	A			CHC793T																					ENST00000308595.5:c.732G>A	p.Ser244=	p.S244=	ENST00000308595	NM_001619.3	244	tcG/tcA	0	validated		synonymous	
ABCA6		inserm.fr	GRCh37	17	67094140	67094140	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000284425.2:c.3041C>T	p.Pro1014Leu	p.P1014L	ENST00000284425	NM_080284.2	1014	cCg/cTg	0	validated		benign	
C3		inserm.fr	GRCh37	19	6712546	6712546	+	synonymous_variant	Silent	SNP	G	A	A			CHC1207T																					ENST00000245907.6:c.1092C>T	p.Phe364=	p.F364=	ENST00000245907	NM_000064.2	364	ttC/ttT	0	not done		synonymous	
CLCF1		inserm.fr	GRCh37	11	67132980	67132980	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC884T																					ENST00000312438.7:c.305G>T	p.Arg102Leu	p.R102L	ENST00000312438	NM_013246.2	102	cGg/cTg	0	validated		possiblydamaging	
SGIP1		inserm.fr	GRCh37	1	67138988	67138988	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000371037.4:c.585G>A	p.Thr195=	p.T195=	ENST00000371037	NM_032291.2	195	acG/acA	0	not done		synonymous	
ABCA10		inserm.fr	GRCh37	17	67148239	67148239	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1152T																					ENST00000269081.4:c.4342G>T	p.Glu1448Ter	p.E1448*	ENST00000269081	NM_080282.3	1448	Gaa/Taa	0	not done		damaging	
RAD9A		inserm.fr	GRCh37	11	67164704	67164704	+	synonymous_variant	Silent	SNP	C	A	A			CHC433T																					ENST00000307980.2:c.927C>A	p.Ala309=	p.A309=	ENST00000307980	NM_004584.2	309	gcC/gcA	0	validated		synonymous	
CARNS1		inserm.fr	GRCh37	11	67185104	67185104	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM257T																					ENST00000445895.2:c.230C>A	p.Ala77Asp	p.A77D	ENST00000445895		77	gCt/gAt	0	validated			
TRADD		inserm.fr	GRCh37	16	67189189	67189189	+	synonymous_variant	Silent	SNP	C	A	A			CHC1205T																					ENST00000345057.4:c.438G>T	p.Arg146=	p.R146=	ENST00000345057	NM_003789.3	146	cgG/cgT	0	not done		synonymous	
CARNS1		inserm.fr	GRCh37	11	67191261	67191261	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1205T																					ENST00000445895.2:c.2042G>A	p.Gly681Asp	p.G681D	ENST00000445895		681	gGt/gAt	0	not done		probablydamaging	
PITPNM1		inserm.fr	GRCh37	11	67262645	67262645	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC917T																					ENST00000356404.3:c.2534C>T	p.Pro845Leu	p.P845L	ENST00000356404	NM_001130848.1	845	cCc/cTc	0	validated		probablydamaging	
FHOD1		inserm.fr	GRCh37	16	67271278	67271278	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1201T																					ENST00000258201.4:c.857C>T	p.Ala286Val	p.A286V	ENST00000258201	NM_013241.2	286	gCg/gTg	0	not done		probablydamaging	
SLC9A5		inserm.fr	GRCh37	16	67286512	67286512	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000299798.11:c.255G>A	p.Leu85=	p.L85=	ENST00000299798	NM_004594.2	85	ctG/ctA	0	not done		synonymous	
WDR78		inserm.fr	GRCh37	1	67288099	67288099	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1712T																					ENST00000371026.3:c.2441G>T	p.Gly814Val	p.G814V	ENST00000371026	NM_024763.4	814	gGa/gTa	0	not done		probablydamaging	
SLC9A5		inserm.fr	GRCh37	16	67289015	67289015	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000299798.11:c.582G>A	p.Glu194=	p.E194=	ENST00000299798	NM_004594.2	194	gaG/gaA	0	not done		synonymous	
CABP2		inserm.fr	GRCh37	11	67290777	67290777	+	synonymous_variant	Silent	SNP	C	A	A			CHC793T																					ENST00000294288.4:c.21G>T	p.Arg7=	p.R7=	ENST00000294288	NM_016366.2	7	cgG/cgT	0	validated		synonymous	
ABCA5		inserm.fr	GRCh37	17	67297372	67297372	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000392676.3:c.1175G>T	p.Gly392Val	p.G392V	ENST00000392676		392	gGc/gTc	0	not done		probablydamaging	
SLC9A5		inserm.fr	GRCh37	16	67298993	67298993	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000299798.11:c.2064G>A	p.Leu688=	p.L688=	ENST00000299798	NM_004594.2	688	ctG/ctA	0	not done		synonymous	
PLEKHG4		inserm.fr	GRCh37	16	67314692	67314692	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000360461.5:c.578G>A	p.Gly193Asp	p.G193D	ENST00000360461	NM_001129727.1	193	gGt/gAt	0	not done		probablydamaging	
KCTD19		inserm.fr	GRCh37	16	67327453	67327453	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000304372.5:c.2212G>T	p.Glu738Ter	p.E738*	ENST00000304372	NM_001100915.1	738	Gag/Tag	0	not done		damaging	
KCTD19		inserm.fr	GRCh37	16	67329287	67329287	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC258T																					ENST00000304372.5:c.1270C>T	p.Pro424Ser	p.P424S	ENST00000304372	NM_001100915.1	424	Cct/Tct	0	validated		benign	
KCTD19		inserm.fr	GRCh37	16	67333321	67333321	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000304372.5:c.931C>T	p.Leu311=	p.L311=	ENST00000304372	NM_001100915.1	311	Cta/Tta	0	not done		synonymous	
AMELY		inserm.fr	GRCh37	Y	6736341	6736341	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM567T																					ENST00000215479.5:c.310G>T	p.Val104Phe	p.V104F	ENST00000215479	NM_001143.1	104	Gtt/Ttt	0	validated		probablydamaging	
NDUFV1		inserm.fr	GRCh37	11	67374526	67374526	+	synonymous_variant	Silent	SNP	T	A	A			BCM703T																					ENST00000322776.6:c.51T>A	p.Ser17=	p.S17=	ENST00000322776	NM_001166102.1	17	tcT/tcA	0	validated		synonymous	
NDUFV1		inserm.fr	GRCh37	11	67379036	67379036	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB157T																					ENST00000322776.6:c.1076G>A	p.Arg359His	p.R359H	ENST00000322776	NM_001166102.1	359	cGc/cAc	0	validated		possiblydamaging	
LRRC36		inserm.fr	GRCh37	16	67405095	67405095	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1568T																					ENST00000329956.6:c.1444C>A	p.Leu482Ile	p.L482I	ENST00000329956	NM_018296.5	482	Ctt/Att	0	not done		probablydamaging	
ZDHHC1		inserm.fr	GRCh37	16	67428766	67428766	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1148T																					ENST00000348579.2:c.1261C>T	p.Arg421Cys	p.R421C	ENST00000348579	NM_013304.2	421	Cgt/Tgt	0	not done		benign	
ALDH3B2		inserm.fr	GRCh37	11	67434120	67434120	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000349015.3:c.76C>T	p.Leu26=	p.L26=	ENST00000349015	NM_000695.3	26	Ctg/Ttg	0	not done		synonymous	
TRIP10		inserm.fr	GRCh37	19	6743769	6743769	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC314T																					ENST00000313285.8:c.564C>A	p.Asn188Lys	p.N188K	ENST00000313285	NM_004240.2	188	aaC/aaA	0	validated		probablydamaging	
MIER1		inserm.fr	GRCh37	1	67450480	67450480	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM739T																					ENST00000401041.1:c.1595G>A	p.Arg532Gln	p.R532Q	ENST00000401041	NM_001077700.2	532	cGa/cAa	0	validated		benign	
BMP2		inserm.fr	GRCh37	20	6750816	6750816	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM769T																					ENST00000378827.4:c.43C>A	p.Gln15Lys	p.Q15K	ENST00000378827	NM_001200.2	15	Cag/Aag	0	validated		benign	
TRIP10		inserm.fr	GRCh37	19	6751140	6751140	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000313285.8:c.1556G>A	p.Gly519Glu	p.G519E	ENST00000313285	NM_004240.2	519	gGg/gAg	0	not done		probablydamaging	
SH2D3A		inserm.fr	GRCh37	19	6752763	6752763	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	A	A			CHC1201T																					ENST00000245908.6:c.1572A>T	p.Gly524=	p.G524=	ENST00000245908	NM_005490.2	524	ggA/ggT	0	not done		possiblydamaging	
SH2D3A		inserm.fr	GRCh37	19	6753576	6753576	+	synonymous_variant	Silent	SNP	C	A	A			CHC433T																					ENST00000245908.6:c.1461G>T	p.Ala487=	p.A487=	ENST00000245908	NM_005490.2	487	gcG/gcT	0	validated		synonymous	
C1orf141		inserm.fr	GRCh37	1	67558866	67558866	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371007.2:c.1025C>T	p.Ala342Val	p.A342V	ENST00000371007		342	gCc/gTc	0	not done		benign	
C1orf141		inserm.fr	GRCh37	1	67561096	67561096	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371007.2:c.425C>T	p.Ser142Phe	p.S142F	ENST00000371007		142	tCt/tTt	0	not done		probablydamaging	
MFSD7		inserm.fr	GRCh37	4	675949	675949	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1731T																					ENST00000322224.4:c.1478C>T	p.Ala493Val	p.A493V	ENST00000322224		493	gCg/gTg	0	validated		benign	
OPHN1		inserm.fr	GRCh37	X	67652816	67652816	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000355520.5:c.47C>T	p.Pro16Leu	p.P16L	ENST00000355520	NM_002547.2	16	cCc/cTc	0	not done		probablydamaging	
PARD6A		inserm.fr	GRCh37	16	67696294	67696294	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC303T									Valid												ENST00000219255.3:c.785G>A	p.Arg262His	p.R262H	ENST00000219255		262	cGt/cAt	0	validated		probablydamaging	
CAND1		inserm.fr	GRCh37	12	67696351	67696351	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC320T																					ENST00000545606.1:c.1249G>A	p.Ala417Thr	p.A417T	ENST00000545606	NM_018448.3	417	Gca/Aca	0	validated		benign	
CAND1		inserm.fr	GRCh37	12	67700284	67700284	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000545606.1:c.2836G>A	p.Gly946Arg	p.G946R	ENST00000545606	NM_018448.3	946	Gga/Aga	0	not done		probablydamaging	
RTTN		inserm.fr	GRCh37	18	67715269	67715269	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC314T																					ENST00000255674.6:c.5479C>T	p.Leu1827Phe	p.L1827F	ENST00000255674	NM_173630.3	1827	Ctt/Ttt	0	validated		probablydamaging	
RTTN		inserm.fr	GRCh37	18	67715292	67715292	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1035T																					ENST00000255674.6:c.5456G>T	p.Cys1819Phe	p.C1819F	ENST00000255674	NM_173630.3	1819	tGc/tTc	0	validated		probablydamaging	
IL23R		inserm.fr	GRCh37	1	67724470	67724470	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2200T																					ENST00000347310.5:c.1549G>A	p.Asp517Asn	p.D517N	ENST00000347310	NM_144701.2	517	Gac/Aac	0	not done		benign	
YIPF6		inserm.fr	GRCh37	X	67733208	67733208	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC326T																					ENST00000462683.1:c.226G>A	p.Val76Ile	p.V76I	ENST00000462683	NM_173834.3	76	Gtt/Att	0	validated		probablydamaging	
IQCH		inserm.fr	GRCh37	15	67757578	67757578	+	synonymous_variant	Silent	SNP	C	A	A			CHC1531T																					ENST00000335894.4:c.2619C>A	p.Pro873=	p.P873=	ENST00000335894	NM_001031715.2	873	ccC/ccA	0	not done		synonymous	
RANBP10		inserm.fr	GRCh37	16	67763359	67763359	+	synonymous_variant	Silent	SNP	G	A	A			CHC205T																					ENST00000317506.3:c.1176C>T	p.Gly392=	p.G392=	ENST00000317506	NM_020850.1	392	ggC/ggT	0	validated		synonymous	
ALDH3B1		inserm.fr	GRCh37	11	67787247	67787247	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC465T																					ENST00000539229.1:c.541G>A	p.Asp181Asn	p.D181N	ENST00000539229	NM_001161473.1	181	Gac/Aac	0	validated		probablydamaging	
IL12RB2		inserm.fr	GRCh37	1	67794018	67794018	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2200T																					ENST00000262345.1:c.615T>A	p.Ser205Arg	p.S205R	ENST00000262345	NM_001559.2	205	agT/agA	0	not done		benign	
RTTN		inserm.fr	GRCh37	18	67817858	67817858	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1566T																					ENST00000255674.6:c.2041G>T	p.Glu681Ter	p.E681*	ENST00000255674	NM_173630.3	681	Gag/Tag	0	not done		damaging	
ZNF384		inserm.fr	GRCh37	12	6787550	6787550	+	synonymous_variant	Silent	SNP	C	A	A			CHC322T																					ENST00000396801.3:c.429G>T	p.Ser143=	p.S143=	ENST00000396801	NM_001135734.2	143	tcG/tcT	0	validated		synonymous	
CHKA		inserm.fr	GRCh37	11	67888429	67888429	+	synonymous_variant	Silent	SNP	G	A	A			BCM739T																					ENST00000265689.4:c.216C>T	p.Pro72=	p.P72=	ENST00000265689	NM_001277.2	72	ccC/ccT	0	validated		synonymous	
EDC4		inserm.fr	GRCh37	16	67915963	67915963	+	synonymous_variant	Silent	SNP	G	A	A			CHC304T																					ENST00000358933.5:c.3111G>A	p.Gly1037=	p.G1037=	ENST00000358933	NM_014329.4	1037	ggG/ggA	0	validated		synonymous	
EDC4		inserm.fr	GRCh37	16	67916728	67916728	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM739T																					ENST00000358933.5:c.3589C>A	p.Arg1197Ser	p.R1197S	ENST00000358933	NM_014329.4	1197	Cgt/Agt	0	validated		benign	
NRN1L		inserm.fr	GRCh37	16	67920033	67920033	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000339176.3:c.369G>A	p.Glu123=	p.E123=	ENST00000339176	NM_198443.1	123	gaG/gaA	0	not done		synonymous	
STARD8		inserm.fr	GRCh37	X	67937865	67937865	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000374599.3:c.1109G>A	p.Gly370Glu	p.G370E	ENST00000374599	NM_001142503.2	370	gGg/gAg	0	not done		benign	
STARD8		inserm.fr	GRCh37	X	67938386	67938386	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC703T																					ENST00000374599.3:c.1630G>A	p.Ala544Thr	p.A544T	ENST00000374599	NM_001142503.2	544	Gcg/Acg	0	validated		benign	
PSKH1		inserm.fr	GRCh37	16	67943379	67943379	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000291041.5:c.727G>A	p.Ala243Thr	p.A243T	ENST00000291041	NM_006742.2	243	Gcc/Acc	0	not done		probablydamaging	
PLEKHH1		inserm.fr	GRCh37	14	68029291	68029291	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM337T																					ENST00000329153.5:c.943G>A	p.Val315Met	p.V315M	ENST00000329153	NM_020715.2	315	Gtg/Atg	0	validated		possiblydamaging	
PLEKHH1		inserm.fr	GRCh37	14	68038559	68038559	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1743T																					ENST00000329153.5:c.1525G>A	p.Val509Ile	p.V509I	ENST00000329153	NM_020715.2	509	Gtc/Atc	0	not done		benign	
DYRK2		inserm.fr	GRCh37	12	68042956	68042956	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1148T																					ENST00000344096.3:c.43C>A	p.Pro15Thr	p.P15T	ENST00000344096	NM_006482.2	15	Ccg/Acg	0	validated		benign	
DDX28		inserm.fr	GRCh37	16	68057087	68057087	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC121T																					ENST00000332395.5:c.19G>T	p.Val7Leu	p.V7L	ENST00000332395	NM_018380.3	7	Gtg/Ttg	0	validated		benign	
CSPP1		inserm.fr	GRCh37	8	68070748	68070748	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB109T									Valid												ENST00000262210.5:c.2293G>A	p.Glu765Lys	p.E765K	ENST00000262210	NM_024790.6	765	Gaa/Aaa	0	validated		probablydamaging	
CSPP1		inserm.fr	GRCh37	8	68070805	68070805	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB109T									Valid												ENST00000262210.5:c.2350G>A	p.Glu784Lys	p.E784K	ENST00000262210	NM_024790.6	784	Gaa/Aaa	0	validated		possiblydamaging	
CSPP1		inserm.fr	GRCh37	8	68070825	68070825	+	synonymous_variant	Silent	SNP	G	A	A			BCB109T																					ENST00000262210.5:c.2370G>A	p.Glu790=	p.E790=	ENST00000262210	NM_024790.6	790	gaG/gaA	0	validated		synonymous	
DUS2L		inserm.fr	GRCh37	16	68083442	68083442	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC097T																					ENST00000565263.1:c.161G>A	p.Arg54Lys	p.R54K	ENST00000565263	NM_017803.4	54	aGa/aAa	0	not done		possiblydamaging	
SKOR1		inserm.fr	GRCh37	15	68125560	68125560	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB151T																					ENST00000341418.5:c.2477G>A	p.Arg826Gln	p.R826Q	ENST00000341418	NM_001258024.1	826	cGg/cAg	0	validated		probablydamaging	
OR6A2		inserm.fr	GRCh37	11	6816225	6816225	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC301T																					ENST00000332601.3:c.715C>T	p.Arg239Cys	p.R239C	ENST00000332601	NM_003696.2	239	Cgc/Tgc	0	validated		benign	
KCNJ2		inserm.fr	GRCh37	17	68171823	68171823	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000243457.3:c.643G>A	p.Gly215Ser	p.G215S	ENST00000243457	NM_000891.2	215	Ggc/Agc	0	not done		probablydamaging	
ARFGEF1		inserm.fr	GRCh37	8	68213510	68213510	+	synonymous_variant	Silent	SNP	T	A	A			CHC429T																					ENST00000262215.3:c.261A>T	p.Ala87=	p.A87=	ENST00000262215	NM_006421.4	87	gcA/gcT	0	validated		synonymous	
GRM7		inserm.fr	GRCh37	3	6828363	6828363	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	A	A			BCB231T																					ENST00000443259.1:c.151C>A	p.Gln51Lys	p.Q51K	ENST00000443259		51	Cag/Aag	0	validated			
WFIKKN1		inserm.fr	GRCh37	16	683282	683282	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1082T																					ENST00000319070.2:c.872C>A	p.Pro291His	p.P291H	ENST00000319070	NM_053284.2	291	cCc/cAc	0	validated		benign	
RAD51B		inserm.fr	GRCh37	14	68331816	68331816	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000487270.1:c.412G>A	p.Val138Met	p.V138M	ENST00000487270	NM_133509.3	138	Gtg/Atg	0	not done		probablydamaging	
SLC7A6OS		inserm.fr	GRCh37	16	68344785	68344785	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000263997.6:c.45C>T	p.Arg15=	p.R15=	ENST00000263997	NM_032178.2	15	cgC/cgT	0	not done		synonymous	
CENPC1		inserm.fr	GRCh37	4	68357969	68357969	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC703T																					ENST00000273853.6:c.2444G>T	p.Gly815Val	p.G815V	ENST00000273853	NM_001812.2	815	gGt/gTt	0	validated		possiblydamaging	
PRMT7		inserm.fr	GRCh37	16	68363008	68363008	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000339507.5:c.322G>A	p.Glu108Lys	p.E108K	ENST00000339507		108	Gag/Aag	0	not done		benign	
PPP6R3		inserm.fr	GRCh37	11	68369412	68369412	+	synonymous_variant	Silent	SNP	G	A	A			CHC1566T																					ENST00000393801.3:c.2274G>A	p.Ala758=	p.A758=	ENST00000393801	NM_001164160.1	758	gcG/gcA	0	not done		synonymous	
ARHGAP28		inserm.fr	GRCh37	18	6837315	6837315	+	5_prime_UTR_variant	5'UTR	SNP	G	A	A			CHC1211T																					ENST00000419673.2:c.-33G>A		*11*	ENST00000419673	NM_001010000.2			0	not done			
ARHGAP28		inserm.fr	GRCh37	18	6837347	6837347	+	5_prime_UTR_variant	5'UTR	SNP	C	A	A			BCM337T																					ENST00000419673.2:c.-1C>A		*1*	ENST00000419673	NM_001010000.2			0	validated		synonymous	
PJA1		inserm.fr	GRCh37	X	68382054	68382054	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000361478.1:c.1028G>T	p.Arg343Leu	p.R343L	ENST00000361478	NM_145119.3	343	cGc/cTc	0	not done		probablydamaging	
COPS7A		inserm.fr	GRCh37	12	6838436	6838436	+	synonymous_variant	Silent	SNP	G	A	A			CHC429T																					ENST00000543155.1:c.351G>A	p.Leu117=	p.L117=	ENST00000543155	NM_001164094.1	117	ctG/ctA	0	validated		synonymous	
CENPH		inserm.fr	GRCh37	5	68505577	68505577	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC322T																					ENST00000283006.2:c.695C>A	p.Ala232Asp	p.A232D	ENST00000283006	NM_022909.3	232	gCc/gAc	0	validated		benign	
CLN6		inserm.fr	GRCh37	15	68510950	68510950	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2099T																					ENST00000249806.5:c.122C>T	p.Ala41Val	p.A41V	ENST00000249806	NM_017882.2	41	gCt/gTt	0	not done		possiblydamaging	
CLN6		inserm.fr	GRCh37	15	68510951	68510951	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2099T																					ENST00000249806.5:c.121G>T	p.Ala41Ser	p.A41S	ENST00000249806	NM_017882.2	41	Gct/Tct	0	not done		benign	
MTL5		inserm.fr	GRCh37	11	68512559	68512559	+	synonymous_variant	Silent	SNP	C	A	A			BCM275T																					ENST00000255087.5:c.651G>T	p.Gly217=	p.G217=	ENST00000255087	NM_004923.3	217	ggG/ggT	0	validated		synonymous	
FEM1B		inserm.fr	GRCh37	15	68570798	68570798	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1209T																					ENST00000306917.4:c.43G>A	p.Gly15Ser	p.G15S	ENST00000306917	NM_015322.4	15	Ggc/Agc	0	not done		probablydamaging	
FAM19A1		inserm.fr	GRCh37	3	68587977	68587977	+	synonymous_variant	Silent	SNP	C	A	A			CHC2103T																					ENST00000478136.1:c.330C>A	p.Leu110=	p.L110=	ENST00000478136	NM_213609.3	110	ctC/ctA	0	not done		synonymous	
ITGA11		inserm.fr	GRCh37	15	68603680	68603680	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000315757.7:c.3035C>T	p.Ala1012Val	p.A1012V	ENST00000315757	NM_001004439.1	1012	gCc/gTc	0	not done		benign	
PLEK		inserm.fr	GRCh37	2	68613691	68613691	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000234313.7:c.530G>A	p.Gly177Asp	p.G177D	ENST00000234313	NM_002664.2	177	gGc/gAc	0	not done		probablydamaging	
KIAA0232		inserm.fr	GRCh37	4	6865506	6865506	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000307659.5:c.3397G>A	p.Ala1133Thr	p.A1133T	ENST00000307659	NM_014743.2	1133	Gca/Aca	0	not done		possiblydamaging	
KIAA0232		inserm.fr	GRCh37	4	6865620	6865620	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC303T									Valid												ENST00000307659.5:c.3511G>A	p.Glu1171Lys	p.E1171K	ENST00000307659	NM_014743.2	1171	Gag/Aag	0	validated		probablydamaging	
LRRTM3		inserm.fr	GRCh37	10	68686744	68686744	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1061T																					ENST00000361320.4:c.70C>A	p.Leu24Met	p.L24M	ENST00000361320	NM_178011.3	24	Ctg/Atg	0	validated		benign	
LRRTM3		inserm.fr	GRCh37	10	68687865	68687865	+	synonymous_variant	Silent	SNP	G	A	A			CHC429T																					ENST00000361320.4:c.1191G>A	p.Pro397=	p.P397=	ENST00000361320	NM_178011.3	397	ccG/ccA	0	validated		synonymous	
TMPRSS11D		inserm.fr	GRCh37	4	68699040	68699040	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC2029T																					ENST00000283916.6:c.574G>T	p.Glu192Ter	p.E192*	ENST00000283916	NM_004262.2	192	Gag/Tag	0	not done		damaging	
IGHMBP2		inserm.fr	GRCh37	11	68703736	68703736	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000255078.3:c.1788G>A	p.Arg596=	p.R596=	ENST00000255078	NM_002180.2	596	agG/agA	0	not done		synonymous	
MRGPRF		inserm.fr	GRCh37	11	68772812	68772812	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2052T																					ENST00000309099.6:c.966G>T	p.Glu322Asp	p.E322D	ENST00000309099	NM_145015.4	322	gaG/gaT	0	not done		benign	
LAG3		inserm.fr	GRCh37	12	6882933	6882933	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000203629.2:c.277G>A	p.Gly93Arg	p.G93R	ENST00000203629	NM_002286.5	93	Ggg/Agg	0	validated		probablydamaging	
TPCN2		inserm.fr	GRCh37	11	68830428	68830428	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM783T																					ENST00000294309.3:c.623G>A	p.Cys208Tyr	p.C208Y	ENST00000294309	NM_139075.3	208	tGc/tAc	0	validated		probablydamaging	
EDA		inserm.fr	GRCh37	X	68836418	68836418	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC303T																					ENST00000374552.4:c.266C>A	p.Thr89Asn	p.T89N	ENST00000374552	NM_001399.4	89	aCc/aAc	0	validated		possiblydamaging	
CDH1		inserm.fr	GRCh37	16	68847215	68847215	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000261769.5:c.1138-1G>A		p.X380_splice	ENST00000261769	NM_004360.3			0	not done		damaging	
CDH1		inserm.fr	GRCh37	16	68867368	68867368	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2352T																					ENST00000261769.5:c.2615T>A	p.Leu872Gln	p.L872Q	ENST00000261769	NM_004360.3	872	cTg/cAg	0	not done		probablydamaging	
TANGO6		inserm.fr	GRCh37	16	68901017	68901017	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000261778.1:c.888G>A	p.Arg296=	p.R296=	ENST00000261778	NM_024562.1	296	cgG/cgA	0	not done		synonymous	
RPE65		inserm.fr	GRCh37	1	68904636	68904636	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000262340.5:c.987C>T	p.Cys329=	p.C329=	ENST00000262340	NM_000329.2	329	tgC/tgT	0	not done		synonymous	
RPE65		inserm.fr	GRCh37	1	68914348	68914348	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262340.5:c.53C>T	p.Thr18Ile	p.T18I	ENST00000262340	NM_000329.2	18	aCt/aTt	0	not done		possiblydamaging	
ARHGAP28		inserm.fr	GRCh37	18	6894878	6894878	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000419673.2:c.1416G>A	p.Ser472=	p.S472=	ENST00000419673	NM_001010000.2	472	tcG/tcA	0	not done		synonymous	
OR10A4		inserm.fr	GRCh37	11	6898567	6898567	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1205T																					ENST00000379829.2:c.689C>A	p.Pro230Gln	p.P230Q	ENST00000379829	NM_207186.2	230	cCg/cAg	0	not done		probablydamaging	
PREX2		inserm.fr	GRCh37	8	69005914	69005914	+	synonymous_variant	Silent	SNP	C	A	A			CHC2034T																					ENST00000288368.4:c.2325C>A	p.Pro775=	p.P775=	ENST00000288368	NM_024870.2	775	ccC/ccA	0	not done		synonymous	
PREX2		inserm.fr	GRCh37	8	69005915	69005915	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC155T																					ENST00000288368.4:c.2326C>A	p.Pro776Thr	p.P776T	ENST00000288368	NM_024870.2	776	Cct/Act	0	validated		benign	
CORO2B		inserm.fr	GRCh37	15	69018239	69018239	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000566799.1:c.1369G>A	p.Ala457Thr	p.A457T	ENST00000566799		457	Gcc/Acc	0	not done		benign	
CORO2B		inserm.fr	GRCh37	15	69018290	69018290	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000566799.1:c.1420C>A	p.Arg474Ser	p.R474S	ENST00000566799		474	Cgc/Agc	0	not done		possiblydamaging	
PREX2		inserm.fr	GRCh37	8	69032431	69032431	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC2127T																					ENST00000288368.4:c.3505G>A	p.Val1169Met	p.V1169M	ENST00000288368	NM_024870.2	1169	Gtg/Atg	0	not done		damaging	
PREX2		inserm.fr	GRCh37	8	69032521	69032521	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC2206T																					ENST00000288368.4:c.3595G>A	p.Glu1199Lys	p.E1199K	ENST00000288368	NM_024870.2	1199	Gaa/Aaa	0	not done		possiblydamaging	
ARHGAP25		inserm.fr	GRCh37	2	69034479	69034479	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000409202.3:c.541G>A	p.Val181Met	p.V181M	ENST00000409202		181	Gtg/Atg	0	not done		probablydamaging	
ARHGAP25		inserm.fr	GRCh37	2	69040466	69040466	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB307T									Valid												ENST00000409202.3:c.722G>A	p.Arg241Gln	p.R241Q	ENST00000409202		241	cGa/cAa	0	validated		probablydamaging	
PREX2		inserm.fr	GRCh37	8	69046322	69046322	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM531T																					ENST00000288368.4:c.3795G>A	p.Met1265Ile	p.M1265I	ENST00000288368	NM_024870.2	1265	atG/atA	0	validated		probablydamaging	
TMPRSS11BNL		inserm.fr	GRCh37	4	69057002	69057002	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000432593.3:c.275C>T	p.Thr92Ile	p.T92I	ENST00000432593	NM_001129907.2	92	aCa/aTa	0	not done		benign	
AUTS2		inserm.fr	GRCh37	7	69064945	69064945	+	synonymous_variant	Silent	SNP	G	A	A			CHC917T																					ENST00000342771.4:c.306G>A	p.Leu102=	p.L102=	ENST00000342771	NM_015570.2	102	ctG/ctA	0	validated		synonymous	
ALOX12		inserm.fr	GRCh37	17	6908621	6908621	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000251535.6:c.1207G>A	p.Ala403Thr	p.A403T	ENST00000251535	NM_000697.2	403	Gcc/Acc	0	not done		possiblydamaging	
TMF1		inserm.fr	GRCh37	3	69097217	69097217	+	synonymous_variant	Silent	SNP	C	A	A			BCM617T																					ENST00000398559.2:c.639G>T	p.Thr213=	p.T213=	ENST00000398559		213	acG/acT	0	validated		synonymous	
BMP10		inserm.fr	GRCh37	2	69098247	69098247	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000295379.1:c.244C>T	p.Pro82Ser	p.P82S	ENST00000295379	NM_014482.1	82	Cca/Tca	0	not done		probablydamaging	
NUP107		inserm.fr	GRCh37	12	69126419	69126419	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000229179.4:c.2001G>A	p.Glu667=	p.E667=	ENST00000229179	NM_020401.2	667	gaG/gaA	0	not done		synonymous	
DEFA5		inserm.fr	GRCh37	8	6912976	6912976	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC909T																					ENST00000330590.2:c.262C>T	p.Leu88Phe	p.L88F	ENST00000330590	NM_021010.1	88	Ctc/Ttc	0	not done		benign	
PREX2		inserm.fr	GRCh37	8	69136801	69136801	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2034T																					ENST00000288368.4:c.4715G>A	p.Arg1572Lys	p.R1572K	ENST00000288368	NM_024870.2	1572	aGa/aAa	0	not done		possiblydamaging	
DEFA5		inserm.fr	GRCh37	8	6914127	6914127	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000330590.2:c.93C>T	p.Thr31=	p.T31=	ENST00000330590	NM_021010.1	31	acC/acT	0	not done		synonymous	
LMOD3		inserm.fr	GRCh37	3	69169056	69169056	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC892T																					ENST00000420581.2:c.450A>T	p.Glu150Asp	p.E150D	ENST00000420581	NM_198271.3	150	gaA/gaT	0	not done		benign	
EMR1		inserm.fr	GRCh37	19	6919574	6919574	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1044T																					ENST00000312053.4:c.1436C>A	p.Ala479Asp	p.A479D	ENST00000312053	NM_001974.4	479	gCt/gAt	0	not done		probablydamaging	
YTHDC1		inserm.fr	GRCh37	4	69199044	69199044	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC205T									Valid												ENST00000344157.4:c.955G>T	p.Ala319Ser	p.A319S	ENST00000344157	NM_001031732.2	319	Gca/Tca	0	not done		benign	
FOXD4L6		inserm.fr	GRCh37	9	69200492	69200492	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1065T																					ENST00000377473.1:c.1121G>T	p.Cys374Phe	p.C374F	ENST00000377473	NM_001085476.1	374	tGt/tTt	0	validated		benign	
EMR1		inserm.fr	GRCh37	19	6921869	6921869	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM723T																					ENST00000312053.4:c.1766T>A	p.Val589Asp	p.V589D	ENST00000312053	NM_001974.4	589	gTt/gAt	0	validated		probablydamaging	
MDM2		inserm.fr	GRCh37	12	69222641	69222641	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC155T									Valid												ENST00000462284.1:c.614T>A	p.Leu205Gln	p.L205Q	ENST00000462284	NM_002392.5	205	cTg/cAg	0	validated		probablydamaging	
SPESP1		inserm.fr	GRCh37	15	69238098	69238098	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000310673.3:c.225G>A	p.Lys75=	p.K75=	ENST00000310673	NM_145658.3	75	aaG/aaA	0	not done		synonymous	
C8orf34		inserm.fr	GRCh37	8	69243364	69243364	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000518698.1:c.117G>A	p.Arg39=	p.R39=	ENST00000518698	NM_052958.2	39	cgG/cgA	0	not done		synonymous	
ZFP36L1		inserm.fr	GRCh37	14	69257080	69257080	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM739T																					ENST00000439696.2:c.187C>T	p.His63Tyr	p.H63Y	ENST00000439696	NM_004926.3	63	Cac/Tac	0	validated		possiblydamaging	
TBC1D14		inserm.fr	GRCh37	4	6925796	6925796	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1725T																					ENST00000409757.4:c.680G>A	p.Ser227Asn	p.S227N	ENST00000409757	NM_020773.2	227	aGt/aAt	0	not done		benign	
NOX5		inserm.fr	GRCh37	15	69307077	69307077	+	start_lost	Translation_Start_Site	SNP	G	A	A			CHC1754T																					ENST00000388866.3:c.3G>A	p.Met1?	p.M1?	ENST00000388866	NM_024505.3	1	atG/atA	0	not done		probablydamaging	
NOX5		inserm.fr	GRCh37	15	69318912	69318912	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC205T									Valid												ENST00000388866.3:c.95C>A	p.Thr32Asn	p.T32N	ENST00000388866	NM_024505.3	32	aCt/aAt	0	validated		possiblydamaging	
NOX5		inserm.fr	GRCh37	15	69341343	69341343	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000388866.3:c.1944G>A	p.Trp648Ter	p.W648*	ENST00000388866	NM_024505.3	648	tgG/tgA	0	not done		damaging	
BAI3		inserm.fr	GRCh37	6	69348956	69348956	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC451T																					ENST00000370598.1:c.389T>A	p.Ile130Lys	p.I130K	ENST00000370598	NM_001704.2	130	aTa/aAa	0	validated		benign	
COG8		inserm.fr	GRCh37	16	69368952	69368952	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000306875.4:c.885C>T	p.Asp295=	p.D295=	ENST00000306875	NM_032382.4	295	gaC/gaT	0	validated		synonymous	
ACTN1		inserm.fr	GRCh37	14	69378914	69378914	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2103T																					ENST00000394419.4:c.386C>T	p.Thr129Ile	p.T129I	ENST00000394419	NM_001130004.1	129	aCc/aTc	0	not done		probablydamaging	
TMED6		inserm.fr	GRCh37	16	69383428	69383428	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1749T																					ENST00000288025.3:c.340G>T	p.Gly114Cys	p.G114C	ENST00000288025	NM_144676.3	114	Ggt/Tgt	0	not done		probablydamaging	
ANTXR1		inserm.fr	GRCh37	2	69409731	69409731	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM711T																					ENST00000303714.4:c.1292G>A	p.Arg431Gln	p.R431Q	ENST00000303714	NM_032208.2	431	cGa/cAa	0	validated		possiblydamaging	
CCND1		inserm.fr	GRCh37	11	69456204	69456204	+	synonymous_variant	Silent	SNP	G	A	A			CHC301T																					ENST00000227507.2:c.123G>A	p.Ser41=	p.S41=	ENST00000227507	NM_053056.2	41	tcG/tcA	0	validated		synonymous	
SLC16A11		inserm.fr	GRCh37	17	6945747	6945747	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB167T																					ENST00000308009.1:c.754G>T	p.Ala252Ser	p.A252S	ENST00000308009	NM_153357.1	252	Gcc/Tcc	0	validated		benign	
LEPREL2		inserm.fr	GRCh37	12	6948280	6948280	+	synonymous_variant	Silent	SNP	G	A	A			CHC2206T																					ENST00000396725.2:c.2019G>A	p.Thr673=	p.T673=	ENST00000396725		673	acG/acA	0	not done			
LAMA1		inserm.fr	GRCh37	18	6948416	6948416	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC155T									Valid												ENST00000389658.3:c.8696G>T	p.Gly2899Val	p.G2899V	ENST00000389658	NM_005559.3	2899	gGa/gTa	0	validated		probablydamaging	
LAMA1		inserm.fr	GRCh37	18	6948418	6948418	+	synonymous_variant	Silent	SNP	G	A	A			CHC2103T																					ENST00000389658.3:c.8694C>T	p.Ser2898=	p.S2898=	ENST00000389658	NM_005559.3	2898	agC/agT	0	not done		synonymous	
FGF19		inserm.fr	GRCh37	11	69518572	69518572	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000294312.3:c.73C>T	p.Leu25Phe	p.L25F	ENST00000294312	NM_005117.2	25	Ctc/Ttc	0	not done		probablydamaging	
KIF4A		inserm.fr	GRCh37	X	69573599	69573599	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1738T																					ENST00000374403.3:c.1616T>A	p.Leu539Gln	p.L539Q	ENST00000374403	NM_012310.4	539	cTg/cAg	0	not done		probablydamaging	
FGF4		inserm.fr	GRCh37	11	69589646	69589646	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000168712.1:c.207C>T	p.Val69=	p.V69=	ENST00000168712	NM_002007.2	69	gtC/gtT	0	not done		synonymous	
LAMA1		inserm.fr	GRCh37	18	6959431	6959431	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000389658.3:c.7687G>T	p.Gly2563Trp	p.G2563W	ENST00000389658	NM_005559.3	2563	Ggg/Tgg	0	not done		probablydamaging	
LAMA1		inserm.fr	GRCh37	18	6961729	6961729	+	synonymous_variant	Silent	SNP	G	A	A			CHC451T																					ENST00000389658.3:c.7482C>T	p.Gly2494=	p.G2494=	ENST00000389658	NM_005559.3	2494	ggC/ggT	0	not done		synonymous	
ZNF215		inserm.fr	GRCh37	11	6964776	6964776	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC1186T																					ENST00000278319.5:c.617-1G>A		p.X206_splice	ENST00000278319	NM_013250.2			0	not done		possiblydamaging	
USP5		inserm.fr	GRCh37	12	6965575	6965575	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000229268.8:c.545G>A	p.Ser182Asn	p.S182N	ENST00000229268	NM_001098536.1	182	aGc/aAc	0	not done		benign	
DLG3		inserm.fr	GRCh37	X	69668762	69668762	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000374360.3:c.358-1G>A		p.X120_splice	ENST00000374360	NM_021120.3			0	not done		damaging	
HDHD1		inserm.fr	GRCh37	X	6968436	6968436	+	synonymous_variant	Silent	SNP	G	A	A			CHC1040T																					ENST00000424830.2:c.657C>T	p.Asp219=	p.D219=	ENST00000424830	NM_001135565.1	219	gaC/gaT	0	not done		synonymous	
USP5		inserm.fr	GRCh37	12	6968652	6968652	+	synonymous_variant	Silent	SNP	G	A	A			CHC2358T																					ENST00000229268.8:c.1077G>A	p.Glu359=	p.E359=	ENST00000229268	NM_001098536.1	359	gaG/gaA	0	validated		synonymous	
EXD2		inserm.fr	GRCh37	14	69703179	69703179	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000409018.3:c.1212G>A	p.Arg404=	p.R404=	ENST00000409018	NM_001193361.1	404	agG/agA	0	not done		synonymous	
NFAT5		inserm.fr	GRCh37	16	69725753	69725753	+	synonymous_variant	Silent	SNP	T	A	A			CHC314T																					ENST00000432919.1:c.2025T>A	p.Ser675=	p.S675=	ENST00000432919	NM_138713.3	675	tcT/tcA	0	validated		synonymous	
NFAT5		inserm.fr	GRCh37	16	69727020	69727020	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM325T																					ENST00000432919.1:c.3292G>A	p.Asp1098Asn	p.D1098N	ENST00000432919	NM_138713.3	1098	Gat/Aat	0	validated		possiblydamaging	
KIF23		inserm.fr	GRCh37	15	69730656	69730656	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2213T																					ENST00000260363.4:c.1625G>A	p.Gly542Glu	p.G542E	ENST00000260363	NM_138555.3	542	gGg/gAg	0	not done		benign	
AAK1		inserm.fr	GRCh37	2	69757830	69757830	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC314T									Valid												ENST00000409085.4:c.665C>T	p.Thr222Met	p.T222M	ENST00000409085	NM_014911.3	222	aCg/aTg	0	validated		probablydamaging	
GALNT16		inserm.fr	GRCh37	14	69813784	69813784	+	synonymous_variant	Silent	SNP	C	A	A			CHC1152T																					ENST00000337827.4:c.1299C>A	p.Gly433=	p.G433=	ENST00000337827	NM_020692.2	433	ggC/ggA	0	not done		synonymous	
WWP2		inserm.fr	GRCh37	16	69832697	69832697	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000359154.2:c.183G>A	p.Gly61=	p.G61=	ENST00000359154	NM_001270454.1	61	ggG/ggA	0	not done		synonymous	
WWP2		inserm.fr	GRCh37	16	69832733	69832733	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000359154.2:c.218+1G>A		p.X73_splice	ENST00000359154	NM_001270454.1			0	not done		damaging	
MYPN		inserm.fr	GRCh37	10	69881328	69881328	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1148T																					ENST00000358913.5:c.133G>A	p.Gly45Ser	p.G45S	ENST00000358913	NM_032578.3	45	Ggc/Agc	0	not done		benign	
MYPN		inserm.fr	GRCh37	10	69881597	69881597	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000358913.5:c.402G>A	p.Glu134=	p.E134=	ENST00000358913	NM_032578.3	134	gaG/gaA	0	not done		synonymous	
SLC39A9		inserm.fr	GRCh37	14	69921540	69921540	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000336643.5:c.484G>A	p.Ala162Thr	p.A162T	ENST00000336643	NM_018375.4	162	Gct/Act	0	not done		probablydamaging	
MITF		inserm.fr	GRCh37	3	69928478	69928478	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000352241.4:c.298G>A	p.Val100Ile	p.V100I	ENST00000352241	NM_198159.2	100	Gtc/Atc	0	not done		probablydamaging	
MITF		inserm.fr	GRCh37	3	69928510	69928510	+	synonymous_variant	Silent	SNP	G	A	A			CHC2202T																					ENST00000352241.4:c.330G>A	p.Thr110=	p.T110=	ENST00000352241	NM_198159.2	110	acG/acA	0	validated		synonymous	
ANO1		inserm.fr	GRCh37	11	69949207	69949207	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2113T																					ENST00000355303.5:c.477T>A	p.His159Gln	p.H159Q	ENST00000355303	NM_018043.5	159	caT/caA	0	not done		probablydamaging	
WWP2		inserm.fr	GRCh37	16	69951749	69951749	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359154.2:c.1142G>A	p.Gly381Glu	p.G381E	ENST00000359154	NM_001270454.1	381	gGg/gAg	0	not done		probablydamaging	
WWP2		inserm.fr	GRCh37	16	69971024	69971024	+	synonymous_variant	Silent	SNP	G	A	A			CHC1751T																					ENST00000359154.2:c.2121G>A	p.Leu707=	p.L707=	ENST00000359154	NM_001270454.1	707	ctG/ctA	0	not done		synonymous	
CCT2		inserm.fr	GRCh37	12	69981327	69981327	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000299300.6:c.187G>A	p.Val63Ile	p.V63I	ENST00000299300	NM_006431.2	63	Gta/Ata	0	not done		benign	
ANO1		inserm.fr	GRCh37	11	70007393	70007393	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM501T																					ENST00000355303.5:c.1705G>A	p.Val569Ile	p.V569I	ENST00000355303	NM_018043.5	569	Gtc/Atc	0	validated		possiblydamaging	
PBLD		inserm.fr	GRCh37	10	70048359	70048359	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T									Valid												ENST00000358769.2:c.572G>T	p.Gly191Val	p.G191V	ENST00000358769	NM_022129.3	191	gGg/gTg	0	validated		possiblydamaging	
BEST3		inserm.fr	GRCh37	12	70049479	70049479	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000330891.5:c.1215C>T	p.Pro405=	p.P405=	ENST00000330891	NM_032735.2	405	ccC/ccT	0	not done		synonymous	
GMCL1		inserm.fr	GRCh37	2	70057101	70057101	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000282570.3:c.77G>A	p.Gly26Glu	p.G26E	ENST00000282570	NM_178439.3	26	gGg/gAg	0	not done		benign	
BAI3		inserm.fr	GRCh37	6	70071083	70071083	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2029T																					ENST00000370598.1:c.3918T>A	p.Ser1306Arg	p.S1306R	ENST00000370598	NM_001704.2	1306	agT/agA	0	not done		benign	
ASGR2		inserm.fr	GRCh37	17	7011815	7011815	+	synonymous_variant	Silent	SNP	G	A	A			CHC1065T																					ENST00000380952.2:c.318C>T	p.Ser106=	p.S106=	ENST00000380952	NM_080912.3	106	agC/agT	0	validated		synonymous	
SOX9		inserm.fr	GRCh37	17	70119991	70119991	+	synonymous_variant	Silent	SNP	G	A	A			CHC307T																					ENST00000245479.2:c.993G>A	p.Ala331=	p.A331=	ENST00000245479	NM_000346.3	331	gcG/gcA	0	validated		synonymous	
LAMA1		inserm.fr	GRCh37	18	7012006	7012006	+	synonymous_variant	Silent	SNP	G	A	A			CHC051T																					ENST00000389658.3:c.3495C>T	p.Tyr1165=	p.Y1165=	ENST00000389658	NM_005559.3	1165	taC/taT	0	validated		synonymous	
LAMA1		inserm.fr	GRCh37	18	7012119	7012119	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC798T									Valid												ENST00000389658.3:c.3382C>T	p.Gln1128Ter	p.Q1128*	ENST00000389658	NM_005559.3	1128	Cag/Tag	0	validated		damaging	
RAB3IP		inserm.fr	GRCh37	12	70149340	70149340	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1749T																					ENST00000550536.1:c.200T>A	p.Val67Glu	p.V67E	ENST00000550536	NM_175623.3	67	gTa/gAa	0	not done		benign	
SLC7A3		inserm.fr	GRCh37	X	70149749	70149749	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000374299.3:c.99C>T	p.Ser33=	p.S33=	ENST00000374299		33	agC/agT	0	not done		synonymous	
KIAA0247		inserm.fr	GRCh37	14	70175656	70175656	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000342745.4:c.721G>A	p.Ala241Thr	p.A241T	ENST00000342745	NM_014734.3	241	Gcc/Acc	0	not done		possiblydamaging	
CBLN2		inserm.fr	GRCh37	18	70205555	70205555	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC303T									Valid												ENST00000269503.4:c.531G>T	p.Gln177His	p.Q177H	ENST00000269503	NM_182511.3	177	caG/caT	0	validated		probablydamaging	
RAB3IP		inserm.fr	GRCh37	12	70206612	70206612	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000550437.1:c.108G>A	p.Gly36=	p.G36=	ENST00000550437		36	ggG/ggA	0	not done		synonymous	
LRRC7		inserm.fr	GRCh37	1	70225999	70225999	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1742T																					ENST00000035383.5:c.112C>A	p.Pro38Thr	p.P38T	ENST00000035383	NM_020794.2	38	Cca/Aca	0	not done		probablydamaging	
LAMA1		inserm.fr	GRCh37	18	7023212	7023212	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2200T																					ENST00000389658.3:c.2652G>T	p.Arg884Ser	p.R884S	ENST00000389658	NM_005559.3	884	agG/agT	0	not done		possiblydamaging	
SLC25A16		inserm.fr	GRCh37	10	70243338	70243338	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1209T																					ENST00000609923.1:c.850C>T	p.Arg284Trp	p.R284W	ENST00000609923	NM_152707.3	284	Cgg/Tgg	0	not done		benign	
LAMA1		inserm.fr	GRCh37	18	7026060	7026060	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000389658.3:c.2320C>T	p.Pro774Ser	p.P774S	ENST00000389658	NM_005559.3	774	Ccc/Tcc	0	not done		probablydamaging	
CTTN		inserm.fr	GRCh37	11	70279341	70279341	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000376561.3:c.1290G>A	p.Glu430=	p.E430=	ENST00000376561	NM_001184740.1	430	gaG/gaA	0	not done		synonymous	
TMEM80		inserm.fr	GRCh37	11	703053	703053	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1712T																					ENST00000608174.1:c.410T>A	p.Val137Glu	p.V137E	ENST00000608174	NM_001042463.2	137	gTg/gAg	0	not done		probablydamaging	
NAIP		inserm.fr	GRCh37	5	70308528	70308528	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000517649.1:c.215C>T	p.Pro72Leu	p.P72L	ENST00000517649	NM_004536.2	72	cCg/cTg	0	not done		possiblydamaging	
ENO2		inserm.fr	GRCh37	12	7031247	7031247	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000535366.1:c.1096G>A	p.Gly366Arg	p.G366R	ENST00000535366		366	Ggg/Agg	0	not done		probablydamaging	
PCBP1		inserm.fr	GRCh37	2	70315867	70315867	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000303577.5:c.992G>A	p.Gly331Asp	p.G331D	ENST00000303577	NM_006196.3	331	gGc/gAc	0	not done		probablydamaging	
FOXO4		inserm.fr	GRCh37	X	70321202	70321202	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000374259.3:c.1122G>A	p.Thr374=	p.T374=	ENST00000374259	NM_005938.3	374	acG/acA	0	not done		synonymous	
FOXO4		inserm.fr	GRCh37	X	70321567	70321567	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000374259.3:c.1487G>A	p.Gly496Glu	p.G496E	ENST00000374259	NM_005938.3	496	gGa/gAa	0	not done		probablydamaging	
MED12		inserm.fr	GRCh37	X	70347227	70347227	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000374080.3:c.2891G>A	p.Gly964Asp	p.G964D	ENST00000374080		964	gGc/gAc	0	not done		probablydamaging	
TET1		inserm.fr	GRCh37	10	70405643	70405643	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000373644.4:c.3157G>A	p.Asp1053Asn	p.D1053N	ENST00000373644	NM_030625.2	1053	Gac/Aac	0	not done		benign	
GJB1		inserm.fr	GRCh37	X	70443637	70443637	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1745T																					ENST00000374022.3:c.80T>A	p.Val27Asp	p.V27D	ENST00000374022	NM_001097642.2	27	gTc/gAc	0	not done		probablydamaging	
NETO1		inserm.fr	GRCh37	18	70451112	70451112	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1598T																					ENST00000327305.6:c.669G>T	p.Met223Ile	p.M223I	ENST00000327305	NM_138966.3	223	atG/atT	0	not done		probablydamaging	
TIA1		inserm.fr	GRCh37	2	70451728	70451728	+	synonymous_variant	Silent	SNP	T	A	A			BCM337T																					ENST00000433529.2:c.432A>T	p.Gly144=	p.G144=	ENST00000433529	NM_022173.2	144	ggA/ggT	0	validated		synonymous	
ATN1		inserm.fr	GRCh37	12	7045918	7045918	+	synonymous_variant	Silent	SNP	G	A	A			BCM439T																					ENST00000356654.4:c.1488G>A	p.Gln496=	p.Q496=	ENST00000356654	NM_001007026.1	496	caG/caA	0	validated		synonymous	
ZMYM3		inserm.fr	GRCh37	X	70462229	70462229	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC909T																					ENST00000353904.2:c.3593A>T	p.Lys1198Met	p.K1198M	ENST00000353904	NM_005096.3	1198	aAg/aTg	0	not done		probablydamaging	
LRRC7		inserm.fr	GRCh37	1	70482217	70482217	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC1611T																					ENST00000035383.5:c.1206G>A	p.Gln402=	p.Q402=	ENST00000035383	NM_020794.2	402	caG/caA	0	not done		damaging	
LAMA1		inserm.fr	GRCh37	18	7049170	7049170	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000389658.3:c.675C>T	p.Arg225=	p.R225=	ENST00000389658	NM_005559.3	225	cgC/cgT	0	not done		synonymous	
FUK		inserm.fr	GRCh37	16	70497610	70497610	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000288078.6:c.167G>A	p.Ser56Asn	p.S56N	ENST00000288078	NM_145059.2	56	aGc/aAc	0	not done		probablydamaging	
SULF1		inserm.fr	GRCh37	8	70501318	70501318	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000260128.4:c.676G>A	p.Gly226Ser	p.G226S	ENST00000260128	NM_015170.2	226	Ggc/Agc	0	validated		possiblydamaging	
WDR90		inserm.fr	GRCh37	16	705038	705038	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM759T																					ENST00000293879.4:c.1447G>A	p.Ala483Thr	p.A483T	ENST00000293879		483	Gcc/Acc	0	validated		possiblydamaging	
LMBRD1		inserm.fr	GRCh37	6	70506750	70506750	+	synonymous_variant	Silent	SNP	C	A	A			CHC1041T																					ENST00000370577.3:c.24G>T	p.Ser8=	p.S8=	ENST00000370577	NM_018368.3	8	tcG/tcT	0	validated		synonymous	
FUK		inserm.fr	GRCh37	16	70508196	70508196	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC301T																					ENST00000288078.6:c.1942G>A	p.Ala648Thr	p.A648T	ENST00000288078	NM_145059.2	648	Gcg/Acg	0	validated		benign	
UGT2A1		inserm.fr	GRCh37	4	70512899	70512899	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1749T																					ENST00000503640.1:c.464G>T	p.Cys155Phe	p.C155F	ENST00000503640	NM_006798.3	155	tGt/tTt	0	not done		probablydamaging	
SLC8A3		inserm.fr	GRCh37	14	70517772	70517772	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000381269.2:c.2084C>T	p.Thr695Ile	p.T695I	ENST00000381269	NM_183002.1	695	aCc/aTc	0	not done		probablydamaging	
NETO1		inserm.fr	GRCh37	18	70526142	70526142	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000327305.6:c.388G>T	p.Gly130Ter	p.G130*	ENST00000327305	NM_138966.3	130	Gga/Tga	0	not done		damaging	
SULF1		inserm.fr	GRCh37	8	70553066	70553066	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2127T																					ENST00000260128.4:c.2575G>A	p.Asp859Asn	p.D859N	ENST00000260128	NM_015170.2	859	Gac/Aac	0	not done		benign	
TAF1		inserm.fr	GRCh37	X	70596928	70596928	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000276072.3:c.661G>A	p.Ala221Thr	p.A221T	ENST00000276072		221	Gca/Aca	0	validated		benign	
TAF1		inserm.fr	GRCh37	X	70598186	70598186	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000276072.3:c.1095G>A	p.Gly365=	p.G365=	ENST00000276072		365	ggG/ggA	0	not done		synonymous	
SF3B3		inserm.fr	GRCh37	16	70602345	70602345	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1611T																					ENST00000302516.5:c.3112C>A	p.Leu1038Ile	p.L1038I	ENST00000302516	NM_012426.4	1038	Ctc/Atc	0	not done		benign	
COL19A1		inserm.fr	GRCh37	6	70610202	70610202	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000322773.4:c.238G>A	p.Gly80Arg	p.G80R	ENST00000322773	NM_001858.4	80	Gga/Aga	0	not done		probablydamaging	
COL19A1		inserm.fr	GRCh37	6	70637835	70637835	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1028T																					ENST00000322773.4:c.301T>A	p.Ser101Thr	p.S101T	ENST00000322773	NM_001858.4	101	Tca/Aca	0	not done		benign	
STOX1		inserm.fr	GRCh37	10	70645808	70645808	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000298596.6:c.2256G>A	p.Leu752=	p.L752=	ENST00000298596	NM_152709.4	752	ctG/ctA	0	not done		synonymous	
SLCO5A1		inserm.fr	GRCh37	8	70667674	70667674	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1148T																					ENST00000260126.4:c.1243G>T	p.Gly415Ter	p.G415*	ENST00000260126	NM_030958.2	415	Gga/Tga	0	not done		damaging	
COL19A1		inserm.fr	GRCh37	6	70669915	70669915	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000322773.4:c.964G>A	p.Gly322Arg	p.G322R	ENST00000322773	NM_001858.4	322	Gga/Aga	0	not done		possiblydamaging	
LRRC40		inserm.fr	GRCh37	1	70671106	70671106	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1595T																					ENST00000370952.3:c.118C>T	p.Gln40Ter	p.Q40*	ENST00000370952	NM_017768.4	40	Cag/Tag	0	validated		damaging	
SRSF11		inserm.fr	GRCh37	1	70705197	70705197	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1598T																					ENST00000370950.3:c.794G>A	p.Arg265Lys	p.R265K	ENST00000370950		265	aGa/aAa	0	not done		benign	
DDX21		inserm.fr	GRCh37	10	70742315	70742315	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1624T																					ENST00000354185.4:c.2099C>A	p.Ser700Ter	p.S700*	ENST00000354185	NM_001256910.1	700	tCa/tAa	0	validated		damaging	
KCNMB4		inserm.fr	GRCh37	12	70760643	70760643	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000258111.4:c.129G>A	p.Ala43=	p.A43=	ENST00000258111	NM_014505.5	43	gcG/gcA	0	not done		synonymous	
BDP1		inserm.fr	GRCh37	5	70779684	70779684	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1751T																					ENST00000358731.4:c.1030G>A	p.Glu344Lys	p.E344K	ENST00000358731	NM_018429.2	344	Gaa/Aaa	0	not done		probablydamaging	
WDR90		inserm.fr	GRCh37	16	707817	707817	+	synonymous_variant	Silent	SNP	G	A	A			BCM439T																					ENST00000293879.4:c.2529G>A	p.Arg843=	p.R843=	ENST00000293879		843	agG/agA	0	validated		synonymous	
ACRC		inserm.fr	GRCh37	X	70800679	70800679	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373695.1:c.8G>A	p.Gly3Glu	p.G3E	ENST00000373695		3	gGg/gAg	0	not done		benign	
BDP1		inserm.fr	GRCh37	5	70805442	70805442	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000358731.4:c.2523G>A	p.Gly841=	p.G841=	ENST00000358731	NM_018429.2	841	ggG/ggA	0	not done		synonymous	
ACRC		inserm.fr	GRCh37	X	70814183	70814183	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC429T									Valid												ENST00000373695.1:c.143G>A	p.Cys48Tyr	p.C48Y	ENST00000373695		48	tGc/tAc	0	not done		benign	
BDP1		inserm.fr	GRCh37	5	70840917	70840917	+	synonymous_variant	Silent	SNP	T	A	A			CHC1209T																					ENST00000358731.4:c.6615T>A	p.Ala2205=	p.A2205=	ENST00000358731	NM_018429.2	2205	gcT/gcA	0	not done		synonymous	
COL19A1		inserm.fr	GRCh37	6	70851960	70851960	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000322773.4:c.1564G>A	p.Gly522Arg	p.G522R	ENST00000322773	NM_001858.4	522	Gga/Aga	0	not done		probablydamaging	
LPCAT3		inserm.fr	GRCh37	12	7087819	7087819	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1743T																					ENST00000261407.4:c.819G>T	p.Met273Ile	p.M273I	ENST00000261407	NM_005768.5	273	atG/atT	0	not done		benign	
WBSCR17		inserm.fr	GRCh37	7	70880967	70880967	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1747T																					ENST00000333538.5:c.682C>A	p.Arg228Ser	p.R228S	ENST00000333538	NM_022479.2	228	Cgc/Agc	0	not done		probablydamaging	
WBSCR17		inserm.fr	GRCh37	7	70886092	70886092	+	splice_donor_variant	Splice_Site	SNP	G	A	A			BCM683T																					ENST00000333538.5:c.962+1G>A		p.X321_splice	ENST00000333538	NM_022479.2			0	validated		damaging	
HYDIN		inserm.fr	GRCh37	16	70902486	70902486	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1603T																					ENST00000393567.2:c.11297C>T	p.Thr3766Ile	p.T3766I	ENST00000393567	NM_001270974.1	3766	aCt/aTt	0	not done		benign	
MCCC2		inserm.fr	GRCh37	5	70930777	70930777	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000340941.6:c.811G>A	p.Gly271Arg	p.G271R	ENST00000340941	NM_022132.4	271	Gga/Aga	0	not done		probablydamaging	
PTPRB		inserm.fr	GRCh37	12	70933776	70933776	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000334414.6:c.5621G>T	p.Arg1874Leu	p.R1874L	ENST00000334414	NM_001109754.2	1874	cGt/cTt	0	not done		probablydamaging	
COL9A1		inserm.fr	GRCh37	6	70952389	70952389	+	synonymous_variant	Silent	SNP	T	A	A			CHC703T																					ENST00000357250.6:c.1902A>T	p.Gly634=	p.G634=	ENST00000357250	NM_001851.4	634	ggA/ggT	0	not done		synonymous	
HYDIN		inserm.fr	GRCh37	16	70954717	70954717	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1604T																					ENST00000393567.2:c.7562C>T	p.Thr2521Met	p.T2521M	ENST00000393567	NM_001270974.1	2521	aCg/aTg	0	not done		probablydamaging	
SUPV3L1		inserm.fr	GRCh37	10	70956830	70956830	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000359655.4:c.1014G>A	p.Glu338=	p.E338=	ENST00000359655	NM_003171.3	338	gaG/gaA	0	not done		synonymous	
PTPRB		inserm.fr	GRCh37	12	70965793	70965793	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM545T																					ENST00000334414.6:c.2917G>T	p.Ala973Ser	p.A973S	ENST00000334414	NM_001109754.2	973	Gcc/Tcc	0	validated		probablydamaging	
PTPRB		inserm.fr	GRCh37	12	70970422	70970422	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000334414.6:c.2582C>T	p.Pro861Leu	p.P861L	ENST00000334414	NM_001109754.2	861	cCt/cTt	0	not done		probablydamaging	
PRDM14		inserm.fr	GRCh37	8	70981896	70981896	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000276594.2:c.200C>T	p.Pro67Leu	p.P67L	ENST00000276594	NM_024504.3	67	cCc/cTc	0	not done		benign	
PTPRB		inserm.fr	GRCh37	12	70989858	70989858	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC794T									Valid												ENST00000334414.6:c.1229C>T	p.Ser410Phe	p.S410F	ENST00000334414	NM_001109754.2	410	tCt/tTt	0	validated		probablydamaging	
HKDC1		inserm.fr	GRCh37	10	70992593	70992593	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000354624.5:c.300G>A	p.Glu100=	p.E100=	ENST00000354624	NM_025130.3	100	gaG/gaA	0	not done		synonymous	
COL9A1		inserm.fr	GRCh37	6	70992611	70992611	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC451T																					ENST00000357250.6:c.791C>T	p.Thr264Ile	p.T264I	ENST00000357250	NM_001851.4	264	aCc/aTc	0	validated		possiblydamaging	
HKDC1		inserm.fr	GRCh37	10	71007126	71007126	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000354624.5:c.1042G>A	p.Gly348Ser	p.G348S	ENST00000354624	NM_025130.3	348	Ggc/Agc	0	not done		possiblydamaging	
HYDIN		inserm.fr	GRCh37	16	71007759	71007759	+	synonymous_variant	Silent	SNP	G	A	A			CHC2321T																					ENST00000393567.2:c.5202C>T	p.Phe1734=	p.F1734=	ENST00000393567	NM_001270974.1	1734	ttC/ttT	0	validated		synonymous	
HKDC1		inserm.fr	GRCh37	10	71008270	71008270	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000354624.5:c.1356G>A	p.Gly452=	p.G452=	ENST00000354624	NM_025130.3	452	ggG/ggA	0	not done		synonymous	
C4orf40		inserm.fr	GRCh37	4	71024442	71024442	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC465T									Valid												ENST00000344526.5:c.473C>A	p.Pro158His	p.P158H	ENST00000344526	NM_214711.3	158	cCt/cAt	0	validated		probablydamaging	
PTPRB		inserm.fr	GRCh37	12	71029729	71029729	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1035T																					ENST00000334414.6:c.173A>T	p.Glu58Val	p.E58V	ENST00000334414	NM_001109754.2	58	gAa/gTa	0	validated		benign	
KDM4C		inserm.fr	GRCh37	9	7103870	7103870	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000381309.3:c.2610G>A	p.Val870=	p.V870=	ENST00000381309	NM_015061.3	870	gtG/gtA	0	not done		damaging	
HYDIN		inserm.fr	GRCh37	16	71054191	71054191	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000393567.2:c.3216C>T	p.Tyr1072=	p.Y1072=	ENST00000393567	NM_001270974.1	1072	taC/taT	0	not done		synonymous	
RBMXL2		inserm.fr	GRCh37	11	7111241	7111241	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000306904.5:c.890G>A	p.Gly297Glu	p.G297E	ENST00000306904	NM_014469.4	297	gGg/gAg	0	not done		probablydamaging	
HYDIN		inserm.fr	GRCh37	16	71122426	71122426	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1616T																					ENST00000393567.2:c.1448C>T	p.Ala483Val	p.A483V	ENST00000393567	NM_001270974.1	483	gCg/gTg	0	not done		possiblydamaging	
HK1		inserm.fr	GRCh37	10	71142254	71142254	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM783T																					ENST00000404387.2:c.1289G>A	p.Arg430His	p.R430H	ENST00000404387		430	cGt/cAt	0	validated		possiblydamaging	
HK1		inserm.fr	GRCh37	10	71154750	71154750	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1182T																					ENST00000404387.2:c.2276G>A	p.Arg759His	p.R759H	ENST00000404387		759	cGc/cAc	0	not done		probablydamaging	
VAX2		inserm.fr	GRCh37	2	71160305	71160305	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1746T																					ENST00000234392.2:c.844G>A	p.Ala282Thr	p.A282T	ENST00000234392	NM_012476.2	282	Gcc/Acc	0	not done		benign	
WBSCR17		inserm.fr	GRCh37	7	71175846	71175846	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM325T																					ENST00000333538.5:c.1601G>A	p.Arg534Gln	p.R534Q	ENST00000333538	NM_022479.2	534	cGg/cAg	0	validated		possiblydamaging	
LAMA1		inserm.fr	GRCh37	18	7117692	7117692	+	synonymous_variant	Silent	SNP	G	A	A			CHC1704T																					ENST00000389658.3:c.28C>T	p.Leu10=	p.L10=	ENST00000389658	NM_005559.3	10	Ctg/Ttg	0	not done		synonymous	
FOXP1		inserm.fr	GRCh37	3	71247166	71247166	+	intron_variant	Intron	SNP	T	A	A			BCM321T																					ENST00000318789.4:c.180+187A>T		*60*	ENST00000318789	NM_032682.5			0	validated			
PROL1		inserm.fr	GRCh37	4	71275300	71275300	+	synonymous_variant	Silent	SNP	T	A	A			CHC1708T																					ENST00000399575.2:c.255T>A	p.Ser85=	p.S85=	ENST00000399575	NM_021225.4	85	tcT/tcA	0	not done		synonymous	
PROL1		inserm.fr	GRCh37	4	71275564	71275564	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1624T																					ENST00000399575.2:c.519G>A	p.Met173Ile	p.M173I	ENST00000399575	NM_021225.4	173	atG/atA	0	validated		benign	
KRTAP5-10		inserm.fr	GRCh37	11	71276835	71276835	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC205T																					ENST00000398531.1:c.202G>A	p.Gly68Arg	p.G68R	ENST00000398531	NM_001012710.1	68	Ggg/Agg	0	validated		benign	
LRRC49		inserm.fr	GRCh37	15	71300911	71300911	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC923T																					ENST00000560369.1:c.1378G>A	p.Val460Ile	p.V460I	ENST00000560369		460	Gtc/Atc	0	not done		benign	
LRRC49		inserm.fr	GRCh37	15	71341879	71341879	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM339T																					ENST00000560369.1:c.2004T>A	p.Asp668Glu	p.D668E	ENST00000560369		668	gaT/gaA	0	validated		possiblydamaging	
MUC7		inserm.fr	GRCh37	4	71346991	71346991	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2321T																					ENST00000413702.1:c.530C>A	p.Pro177Gln	p.P177Q	ENST00000413702	NM_001145006.1	177	cCa/cAa	0	validated		benign	
MCEE		inserm.fr	GRCh37	2	71351362	71351362	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1741T																					ENST00000244217.5:c.352G>T	p.Gly118Ter	p.G118*	ENST00000244217	NM_032601.3	118	Gga/Tga	0	not done		damaging	
SDK2		inserm.fr	GRCh37	17	71357934	71357934	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000392650.3:c.5356C>T	p.Leu1786=	p.L1786=	ENST00000392650	NM_001144952.1	1786	Ctg/Ttg	0	not done		synonymous	
NHSL2		inserm.fr	GRCh37	X	71360038	71360038	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000540800.1:c.2640G>A	p.Arg880=	p.R880=	ENST00000540800	NM_001013627.2	880	agG/agA	0	not done		synonymous	
MPHOSPH10		inserm.fr	GRCh37	2	71371649	71371649	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM483T									Valid												ENST00000244230.2:c.1538T>A	p.Phe513Tyr	p.F513Y	ENST00000244230	NM_005791.2	513	tTc/tAc	0	validated		probablydamaging	
PHF23		inserm.fr	GRCh37	17	7139123	7139123	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC896T																					ENST00000320316.3:c.1034G>T	p.Arg345Leu	p.R345L	ENST00000320316	NM_024297.2	345	cGa/cTa	0	validated		probablydamaging	
SDK2		inserm.fr	GRCh37	17	71397189	71397189	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC898T																					ENST00000392650.3:c.2941G>T	p.Ala981Ser	p.A981S	ENST00000392650	NM_001144952.1	981	Gcc/Tcc	0	not done		benign	
SDK2		inserm.fr	GRCh37	17	71397200	71397200	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC896T																					ENST00000392650.3:c.2930G>T	p.Gly977Val	p.G977V	ENST00000392650	NM_001144952.1	977	gGc/gTc	0	not done		probablydamaging	
PCNX		inserm.fr	GRCh37	14	71413680	71413680	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC799T																					ENST00000304743.2:c.202G>A	p.Ala68Thr	p.A68T	ENST00000304743	NM_014982.2	68	Gct/Act	0	not done		probablydamaging	
SDK2		inserm.fr	GRCh37	17	71420140	71420140	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1725T																					ENST00000392650.3:c.1675A>T	p.Thr559Ser	p.T559S	ENST00000392650	NM_001144952.1	559	Acg/Tcg	0	not done		probablydamaging	
SDK2		inserm.fr	GRCh37	17	71426728	71426728	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000392650.3:c.1505C>T	p.Pro502Leu	p.P502L	ENST00000392650	NM_001144952.1	502	cCc/cTc	0	not done		probablydamaging	
INSR		inserm.fr	GRCh37	19	7142979	7142979	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC912T																					ENST00000302850.5:c.2390C>T	p.Pro797Leu	p.P797L	ENST00000302850	NM_000208.2	797	cCt/cTt	0	validated		benign	
SDK2		inserm.fr	GRCh37	17	71434173	71434173	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000392650.3:c.846C>T	p.Tyr282=	p.Y282=	ENST00000392650	NM_001144952.1	282	taC/taT	0	not done		synonymous	
PCNX		inserm.fr	GRCh37	14	71443873	71443873	+	synonymous_variant	Silent	SNP	T	A	A			CHC307T																					ENST00000304743.2:c.819T>A	p.Ser273=	p.S273=	ENST00000304743	NM_014982.2	273	tcT/tcA	0	validated		synonymous	
PCNX		inserm.fr	GRCh37	14	71445081	71445081	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC320T									Valid												ENST00000304743.2:c.2027G>A	p.Arg676Gln	p.R676Q	ENST00000304743	NM_014982.2	676	cGa/cAa	0	validated		probablydamaging	
SDK2		inserm.fr	GRCh37	17	71452050	71452050	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000392650.3:c.474C>T	p.Ser158=	p.S158=	ENST00000392650	NM_001144952.1	158	agC/agT	0	not done		synonymous	
CALN1		inserm.fr	GRCh37	7	71488660	71488660	+	synonymous_variant	Silent	SNP	T	A	A			CHC2211T																					ENST00000395275.2:c.483A>T	p.Ile161=	p.I161=	ENST00000395275	NM_031468.3	161	atA/atT	0	not done		synonymous	
MAP1B		inserm.fr	GRCh37	5	71489696	71489696	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC805T																					ENST00000296755.7:c.514G>A	p.Gly172Arg	p.G172R	ENST00000296755	NM_005909.3	172	Ggg/Agg	0	not done		probablydamaging	
MAP1B		inserm.fr	GRCh37	5	71489807	71489807	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC879T																					ENST00000296755.7:c.625T>A	p.Phe209Ile	p.F209I	ENST00000296755	NM_005909.3	209	Ttc/Atc	0	not done		probablydamaging	
MAP1B		inserm.fr	GRCh37	5	71491811	71491811	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1743T																					ENST00000296755.7:c.2629G>A	p.Val877Ile	p.V877I	ENST00000296755	NM_005909.3	877	Gtc/Atc	0	not done		benign	
MAP1B		inserm.fr	GRCh37	5	71491927	71491927	+	synonymous_variant	Silent	SNP	C	A	A			CHC1569T																					ENST00000296755.7:c.2745C>A	p.Val915=	p.V915=	ENST00000296755	NM_005909.3	915	gtC/gtA	0	not done		synonymous	
MAP1B		inserm.fr	GRCh37	5	71494175	71494175	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM739T																					ENST00000296755.7:c.4993C>A	p.Gln1665Lys	p.Q1665K	ENST00000296755	NM_005909.3	1665	Cag/Aag	0	validated		probablydamaging	
CTDNEP1		inserm.fr	GRCh37	17	7150128	7150128	+	synonymous_variant	Silent	SNP	C	A	A			CHC155T																					ENST00000573600.1:c.342G>T	p.Val114=	p.V114=	ENST00000573600		114	gtG/gtT	0	validated		synonymous	
ENAM		inserm.fr	GRCh37	4	71501573	71501573	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC451T																					ENST00000396073.3:c.496C>A	p.Leu166Ile	p.L166I	ENST00000396073	NM_031889.2	166	Cta/Ata	0	validated		benign	
FAM86C1		inserm.fr	GRCh37	11	71507074	71507074	+	synonymous_variant	Silent	SNP	T	A	A			CHC1082T																					ENST00000359244.4:c.273T>A	p.Ile91=	p.I91=	ENST00000359244	NM_018172.2	91	atT/atA	0	validated		synonymous	
IGJ		inserm.fr	GRCh37	4	71522239	71522239	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000254801.4:c.287C>T	p.Pro96Leu	p.P96L	ENST00000254801	NM_144646.3	96	cCt/cTt	0	not done		benign	
UTP3		inserm.fr	GRCh37	4	71554781	71554781	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000254803.2:c.387G>A	p.Trp129Ter	p.W129*	ENST00000254803	NM_020368.2	129	tgG/tgA	0	not done		damaging	
CALN1		inserm.fr	GRCh37	7	71571163	71571163	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC892T																					ENST00000395275.2:c.361A>T	p.Ile121Phe	p.I121F	ENST00000395275	NM_031468.3	121	Atc/Ttc	0	not done		possiblydamaging	
B3GAT2		inserm.fr	GRCh37	6	71571555	71571555	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM529T																					ENST00000230053.6:c.863C>T	p.Pro288Leu	p.P288L	ENST00000230053	NM_080742.2	288	cCg/cTg	0	validated		probablydamaging	
B3GAT2		inserm.fr	GRCh37	6	71603895	71603895	+	synonymous_variant	Silent	SNP	G	A	A			BCM489T																					ENST00000230053.6:c.672C>T	p.Asn224=	p.N224=	ENST00000230053	NM_080742.2	224	aaC/aaT	0	validated		synonymous	
WDR90		inserm.fr	GRCh37	16	716067	716067	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000293879.4:c.4552G>A	p.Glu1518Lys	p.E1518K	ENST00000293879		1518	Gag/Aag	0	not done		probablydamaging	
ZNF638		inserm.fr	GRCh37	2	71615772	71615772	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000409544.1:c.2378-7499G>A		*793*	ENST00000409544	NM_001252612.1			0	not done		synonymous	
COL13A1		inserm.fr	GRCh37	10	71662540	71662540	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM337T									Valid												ENST00000398978.3:c.817G>A	p.Gly273Arg	p.G273R	ENST00000398978	NM_001130103.1	273	Ggg/Agg	0	validated		probablydamaging	
C1S		inserm.fr	GRCh37	12	7169912	7169912	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC301T									Valid												ENST00000406697.1:c.139G>A	p.Gly47Arg	p.G47R	ENST00000406697		47	Ggg/Agg	0	validated		probablydamaging	
COL13A1		inserm.fr	GRCh37	10	71712697	71712697	+	synonymous_variant	Silent	SNP	G	A	A			CHC2043T																					ENST00000398978.3:c.2085G>A	p.Ala695=	p.A695=	ENST00000398978	NM_001130103.1	695	gcG/gcA	0	not done		synonymous	
STS		inserm.fr	GRCh37	X	7171298	7171298	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1545T																					ENST00000217961.4:c.73T>A	p.Ser25Thr	p.S25T	ENST00000217961	NM_000351.4	25	Tca/Aca	0	not done		benign	
DYSF		inserm.fr	GRCh37	2	71748020	71748020	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000410020.3:c.1135G>A	p.Gly379Arg	p.G379R	ENST00000410020	NM_001130987.1	379	Ggg/Agg	0	not done		probablydamaging	
ZNF366		inserm.fr	GRCh37	5	71756354	71756354	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000318442.5:c.970C>T	p.Leu324=	p.L324=	ENST00000318442	NM_152625.1	324	Ctg/Ttg	0	not done		synonymous	
AP1G1		inserm.fr	GRCh37	16	71789927	71789927	+	synonymous_variant	Silent	SNP	T	A	A			CHC301T																					ENST00000393512.3:c.1233A>T	p.Ala411=	p.A411=	ENST00000393512	NM_001030007.1	411	gcA/gcT	0	validated		synonymous	
DYSF		inserm.fr	GRCh37	2	71795351	71795351	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000410020.3:c.2747G>A	p.Gly916Asp	p.G916D	ENST00000410020	NM_001130987.1	916	gGc/gAc	0	not done		probablydamaging	
DYSF		inserm.fr	GRCh37	2	71801345	71801345	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000410020.3:c.3246G>A	p.Ala1082=	p.A1082=	ENST00000410020	NM_001130987.1	1082	gcG/gcA	0	not done		synonymous	
TIMM21		inserm.fr	GRCh37	18	71816218	71816218	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000169551.6:c.175G>A	p.Gly59Arg	p.G59R	ENST00000169551	NM_014177.2	59	Gga/Aga	0	not done		benign	
PHKA1		inserm.fr	GRCh37	X	71823061	71823061	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373542.4:c.2825C>T	p.Ala942Val	p.A942V	ENST00000373542	NM_002637.3	942	gCc/gTc	0	not done		probablydamaging	
PHKA1		inserm.fr	GRCh37	X	71825155	71825155	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC614T									Valid												ENST00000373542.4:c.2781G>T	p.Met927Ile	p.M927I	ENST00000373542	NM_002637.3	927	atG/atT	0	validated		probablydamaging	
DYSF		inserm.fr	GRCh37	2	71825838	71825838	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2103T																					ENST00000410020.3:c.3719C>A	p.Pro1240His	p.P1240H	ENST00000410020	NM_001130987.1	1240	cCc/cAc	0	not done		probablydamaging	
DYSF		inserm.fr	GRCh37	2	71827933	71827933	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000410020.3:c.3858G>A	p.Gly1286=	p.G1286=	ENST00000410020	NM_001130987.1	1286	ggG/ggA	0	not done		synonymous	
TJP2		inserm.fr	GRCh37	9	71836381	71836381	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000539225.1:c.1014G>A	p.Gly338=	p.G338=	ENST00000539225	NM_001170416.1	338	ggG/ggA	0	not done		synonymous	
PHKA1		inserm.fr	GRCh37	X	71840653	71840653	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1205T																					ENST00000373542.4:c.2059G>T	p.Asp687Tyr	p.D687Y	ENST00000373542	NM_002637.3	687	Gat/Tat	0	not done		benign	
H2AFY2		inserm.fr	GRCh37	10	71851605	71851605	+	synonymous_variant	Silent	SNP	G	A	A			CHC2115T																					ENST00000373255.4:c.372G>A	p.Ser124=	p.S124=	ENST00000373255	NM_018649.2	124	tcG/tcA	0	not done		synonymous	
SLC2A4		inserm.fr	GRCh37	17	7187062	7187062	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000317370.8:c.329G>A	p.Arg110Lys	p.R110K	ENST00000317370	NM_001042.2	110	aGg/aAg	0	not done		benign	
ATXN1L		inserm.fr	GRCh37	16	71883904	71883904	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000427980.2:c.261G>A	p.Val87=	p.V87=	ENST00000427980	NM_001137675.3	87	gtG/gtA	0	not done		synonymous	
DCK		inserm.fr	GRCh37	4	71889409	71889409	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC326T																					ENST00000286648.5:c.535C>A	p.Gln179Lys	p.Q179K	ENST00000286648	NM_000788.2	179	Caa/Aaa	0	validated		benign	
TYSND1		inserm.fr	GRCh37	10	71902509	71902509	+	synonymous_variant	Silent	SNP	C	A	A			CHC1626T																					ENST00000287078.6:c.1398G>T	p.Thr466=	p.T466=	ENST00000287078	NM_173555.3	466	acG/acT	0	not done		synonymous	
FOLR2		inserm.fr	GRCh37	11	71932559	71932559	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1747T																					ENST00000298223.6:c.521C>A	p.Ser174Tyr	p.S174Y	ENST00000298223	NM_001113535.1	174	tCc/tAc	0	not done		benign	
INPPL1		inserm.fr	GRCh37	11	71939414	71939414	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000298229.2:c.269G>A	p.Arg90His	p.R90H	ENST00000298229	NM_001567.3	90	cGc/cAc	0	validated		probablydamaging	
INPPL1		inserm.fr	GRCh37	11	71948527	71948527	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC798T																					ENST00000298229.2:c.3239G>A	p.Arg1080His	p.R1080H	ENST00000298229	NM_001567.3	1080	cGt/cAt	0	validated		probablydamaging	
INPPL1		inserm.fr	GRCh37	11	71948663	71948663	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000298229.2:c.3375G>A	p.Gln1125=	p.Q1125=	ENST00000298229	NM_001567.3	1125	caG/caA	0	not done		synonymous	
LGR5		inserm.fr	GRCh37	12	71977456	71977456	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1602T																					ENST00000266674.5:c.1666G>A	p.Asp556Asn	p.D556N	ENST00000266674	NM_001277226.1	556	Gat/Aat	0	not done		benign	
LGR5		inserm.fr	GRCh37	12	71978431	71978431	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000266674.5:c.2641C>A	p.Pro881Thr	p.P881T	ENST00000266674	NM_001277226.1	881	Cct/Act	0	not done		benign	
CLPB		inserm.fr	GRCh37	11	72012926	72012926	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB307T									Valid												ENST00000294053.3:c.1340C>T	p.Pro447Leu	p.P447L	ENST00000294053	NM_001258394.1	447	cCc/cTc	0	validated		probablydamaging	
NPFFR1		inserm.fr	GRCh37	10	72014805	72014805	+	synonymous_variant	Silent	SNP	G	A	A			CHC1183T																					ENST00000277942.6:c.1201C>T	p.Leu401=	p.L401=	ENST00000277942	NM_022146.4	401	Ctg/Ttg	0	not done		synonymous	
ZFC3H1		inserm.fr	GRCh37	12	72026239	72026239	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM735T																					ENST00000378743.3:c.2873C>T	p.Ser958Leu	p.S958L	ENST00000378743	NM_144982.4	958	tCa/tTa	0	validated		possiblydamaging	
FAM69C		inserm.fr	GRCh37	18	72113994	72113994	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000343998.6:c.723C>T	p.Ala241=	p.A241=	ENST00000343998	NM_001044369.2	241	gcC/gcT	0	not done		synonymous	
APBA1		inserm.fr	GRCh37	9	72131130	72131130	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1052T									Valid												ENST00000265381.4:c.997G>T	p.Glu333Ter	p.E333*	ENST00000265381	NM_001163.3	333	Gag/Tag	0	validated		damaging	
APBA1		inserm.fr	GRCh37	9	72131368	72131368	+	synonymous_variant	Silent	SNP	G	A	A			CHC2043T																					ENST00000265381.4:c.759C>T	p.Ala253=	p.A253=	ENST00000265381	NM_001163.3	253	gcC/gcT	0	not done		synonymous	
APBA1		inserm.fr	GRCh37	9	72131793	72131793	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB325T																					ENST00000265381.4:c.334C>T	p.Pro112Ser	p.P112S	ENST00000265381	NM_001163.3	112	Ccc/Tcc	0	validated		benign	
SFMBT2		inserm.fr	GRCh37	10	7214103	7214103	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000361972.4:c.2169C>T	p.Asp723=	p.D723=	ENST00000361972	NM_001018039.1	723	gaC/gaT	0	validated		synonymous	
MYO9A		inserm.fr	GRCh37	15	72141244	72141244	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T									Valid												ENST00000356056.5:c.6779G>T	p.Ser2260Ile	p.S2260I	ENST00000356056	NM_006901.3	2260	aGc/aTc	0	validated		possiblydamaging	
CLPB		inserm.fr	GRCh37	11	72145340	72145340	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC097T																					ENST00000294053.3:c.179C>T	p.Pro60Leu	p.P60L	ENST00000294053	NM_001258394.1	60	cCg/cTg	0	not done		probablydamaging	
RAB21		inserm.fr	GRCh37	12	72175833	72175833	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000261263.3:c.414G>A	p.Lys138=	p.K138=	ENST00000261263	NM_014999.2	138	aaG/aaA	0	not done		synonymous	
CNDP2		inserm.fr	GRCh37	18	72176134	72176134	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000324262.4:c.427G>A	p.Ala143Thr	p.A143T	ENST00000324262	NM_018235.2	143	Gcc/Acc	0	not done		possiblydamaging	
TNPO1		inserm.fr	GRCh37	5	72179060	72179060	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000337273.5:c.1150+1G>A		p.X384_splice	ENST00000337273	NM_002270.3			0	not done		damaging	
EYA1		inserm.fr	GRCh37	8	72211407	72211407	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000340726.3:c.701C>T	p.Pro234Leu	p.P234L	ENST00000340726	NM_000503.4	234	cCg/cTg	0	not done		probablydamaging	
NEURL4		inserm.fr	GRCh37	17	7221967	7221967	+	synonymous_variant	Silent	SNP	C	A	A			CHC1725T																					ENST00000399464.2:c.3711G>T	p.Leu1237=	p.L1237=	ENST00000399464	NM_032442.2	1237	ctG/ctT	0	not done		synonymous	
CNDP1		inserm.fr	GRCh37	18	72229348	72229348	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000358821.3:c.533G>A	p.Ser178Asn	p.S178N	ENST00000358821	NM_032649.5	178	aGc/aAc	0	not done		possiblydamaging	
DNAI2		inserm.fr	GRCh37	17	72277972	72277972	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1148T																					ENST00000446837.2:c.16G>A	p.Val6Met	p.V6M	ENST00000446837		6	Gtg/Atg	0	not done		probablydamaging	
DNAI2		inserm.fr	GRCh37	17	72278087	72278087	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB157T																					ENST00000446837.2:c.131G>A	p.Arg44Gln	p.R44Q	ENST00000446837		44	cGg/cAg	0	validated		possiblydamaging	
PALD1		inserm.fr	GRCh37	10	72285764	72285764	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000263563.6:c.57G>A	p.Glu19=	p.E19=	ENST00000263563	NM_014431.2	19	gaG/gaA	0	not done		synonymous	
PALD1		inserm.fr	GRCh37	10	72298937	72298937	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000263563.6:c.1659G>A	p.Leu553=	p.L553=	ENST00000263563	NM_014431.2	553	ttG/ttA	0	not done		synonymous	
PDE2A		inserm.fr	GRCh37	11	72300268	72300268	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000334456.5:c.890G>T	p.Gly297Val	p.G297V	ENST00000334456	NM_002599.4	297	gGc/gTc	0	not done		probablydamaging	
RREB1		inserm.fr	GRCh37	6	7231054	7231054	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000379938.2:c.2722G>A	p.Ala908Thr	p.A908T	ENST00000379938	NM_001003700.1	908	Gcc/Acc	0	not done		possiblydamaging	
LRRC30		inserm.fr	GRCh37	18	7231763	7231763	+	synonymous_variant	Silent	SNP	C	A	A			BCB325T																					ENST00000383467.2:c.627C>A	p.Ala209=	p.A209=	ENST00000383467	NM_001105581.1	209	gcC/gcA	0	validated		synonymous	
MYO9A		inserm.fr	GRCh37	15	72338595	72338595	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2115T																					ENST00000356056.5:c.310C>T	p.Arg104Cys	p.R104C	ENST00000356056	NM_006901.3	104	Cgc/Tgc	0	not done		probablydamaging	
ZNF407		inserm.fr	GRCh37	18	72344028	72344028	+	synonymous_variant	Silent	SNP	C	A	A			CHC1148T																					ENST00000299687.5:c.1053C>A	p.Ser351=	p.S351=	ENST00000299687	NM_017757.2	351	tcC/tcA	0	not done		synonymous	
PRF1		inserm.fr	GRCh37	10	72358529	72358529	+	synonymous_variant	Silent	SNP	G	A	A			CHC465T																					ENST00000441259.1:c.948C>T	p.Phe316=	p.F316=	ENST00000441259	NM_005041.4	316	ttC/ttT	0	validated		synonymous	
PRF1		inserm.fr	GRCh37	10	72360596	72360596			NA		C	A				CHC303T																													validated		synonymous	
GPR142		inserm.fr	GRCh37	17	72368180	72368180	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM423T																					ENST00000335666.4:c.830G>A	p.Arg277Gln	p.R277Q	ENST00000335666	NM_181790.1	277	cGg/cAg	0	validated		probablydamaging	
ARAP1		inserm.fr	GRCh37	11	72406822	72406822	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM257T																					ENST00000393609.3:c.3361G>T	p.Asp1121Tyr	p.D1121Y	ENST00000393609	NM_001040118.2	1121	Gac/Tac	0	validated		probablydamaging	
ARAP1		inserm.fr	GRCh37	11	72406823	72406823	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM257T																					ENST00000393609.3:c.3360G>T	p.Gln1120His	p.Q1120H	ENST00000393609	NM_001040118.2	1120	caG/caT	0	validated		possiblydamaging	
NAP1L2		inserm.fr	GRCh37	X	72433415	72433415	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1754T																					ENST00000373517.3:c.914C>T	p.Thr305Ile	p.T305I	ENST00000373517	NM_021963.3	305	aCc/aTc	0	not done		probablydamaging	
GRAMD2		inserm.fr	GRCh37	15	72460148	72460148	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000309731.7:c.301C>T	p.Leu101Phe	p.L101F	ENST00000309731	NM_001012642.2	101	Ctc/Ttc	0	not done		probablydamaging	
RREB1		inserm.fr	GRCh37	6	7246769	7246769	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000379938.2:c.4086G>A	p.Gly1362=	p.G1362=	ENST00000379938	NM_001003700.1	1362	ggG/ggA	0	not done		synonymous	
RREB1		inserm.fr	GRCh37	6	7246832	7246832	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000379938.2:c.4149G>A	p.Gly1383=	p.G1383=	ENST00000379938	NM_001003700.1	1383	ggG/ggA	0	not done		synonymous	
STARD10		inserm.fr	GRCh37	11	72468860	72468860	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1751T																					ENST00000334805.6:c.529G>T	p.Gly177Trp	p.G177W	ENST00000334805	NM_006645.2	177	Ggg/Tgg	0	not done		probablydamaging	
TMEM174		inserm.fr	GRCh37	5	72469155	72469155	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T									Valid												ENST00000296776.5:c.85C>A	p.Gln29Lys	p.Q29K	ENST00000296776	NM_153217.2	29	Cag/Aag	0	validated		possiblydamaging	
CD300A		inserm.fr	GRCh37	17	72473599	72473599	+	synonymous_variant	Silent	SNP	G	A	A			CHC1744T																					ENST00000360141.3:c.558G>A	p.Leu186=	p.L186=	ENST00000360141	NM_007261.3	186	ctG/ctA	0	not done		synonymous	
ADAMTS14		inserm.fr	GRCh37	10	72496513	72496513	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000373208.1:c.1572G>A	p.Gly524=	p.G524=	ENST00000373208	NM_139155.2	524	ggG/ggA	0	not done		synonymous	
ADAMTS14		inserm.fr	GRCh37	10	72520117	72520117	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC798T									Valid												ENST00000373208.1:c.3189G>A	p.Thr1063=	p.T1063=	ENST00000373208	NM_139155.2	1063	acG/acA	0	validated		possiblydamaging	
GC		inserm.fr	GRCh37	4	72620763	72620763	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC314T									Valid												ENST00000504199.1:c.1153G>T	p.Glu385Ter	p.E385*	ENST00000504199	NM_001204307.1	385	Gag/Tag	0	validated		damaging	
TRHDE		inserm.fr	GRCh37	12	72666764	72666764	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000261180.4:c.206G>A	p.Gly69Glu	p.G69E	ENST00000261180	NM_013381.2	69	gGg/gAg	0	not done		benign	
CDX4		inserm.fr	GRCh37	X	72667236	72667236	+	synonymous_variant	Silent	SNP	T	A	A			CHC794T																					ENST00000373514.2:c.147T>A	p.Ala49=	p.A49=	ENST00000373514	NM_005193.1	49	gcT/gcA	0	validated		synonymous	
RIMS1		inserm.fr	GRCh37	6	72678688	72678688	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1754T																					ENST00000521978.1:c.167G>A	p.Cys56Tyr	p.C56Y	ENST00000521978	NM_014989.5	56	tGt/tAt	0	not done		probablydamaging	
TMEM202		inserm.fr	GRCh37	15	72691060	72691060	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000341689.3:c.148G>A	p.Asp50Asn	p.D50N	ENST00000341689	NM_001080462.1	50	Gat/Aat	0	not done		benign	
EXOC6B		inserm.fr	GRCh37	2	72725647	72725647	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2216T																					ENST00000272427.6:c.1273A>T	p.Met425Leu	p.M425L	ENST00000272427	NM_015189.1	425	Atg/Ttg	0	not done		probablydamaging	
TRIM50		inserm.fr	GRCh37	7	72727026	72727026	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000333149.2:c.1355C>T	p.Pro452Leu	p.P452L	ENST00000333149	NM_001281450.1	452	cCc/cTc	0	not done		probablydamaging	
FOXD1		inserm.fr	GRCh37	5	72743792	72743792	+	synonymous_variant	Silent	SNP	C	A	A			CHC2127T																					ENST00000499003.3:c.396G>T	p.Ala132=	p.A132=	ENST00000499003	NM_004472.2	132	gcG/gcT	0	not done		synonymous	
ZNF407		inserm.fr	GRCh37	18	72775891	72775891	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000299687.5:c.6214G>A	p.Ala2072Thr	p.A2072T	ENST00000299687	NM_017757.2	2072	Gca/Aca	0	not done		possiblydamaging	
SHQ1		inserm.fr	GRCh37	3	72799503	72799503	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1185T																					ENST00000325599.8:c.1666A>T	p.Lys556Ter	p.K556*	ENST00000325599	NM_018130.2	556	Aag/Tag	0	not done		damaging	
ZFHX3		inserm.fr	GRCh37	16	72845871	72845871	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000268489.5:c.3596C>T	p.Pro1199Leu	p.P1199L	ENST00000268489	NM_006885.3	1199	cCa/cTa	0	not done		benign	
BAZ1B		inserm.fr	GRCh37	7	72856569	72856569	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000339594.4:c.4409C>T	p.Pro1470Leu	p.P1470L	ENST00000339594	NM_032408.3	1470	cCa/cTa	0	not done		benign	
ARIH1		inserm.fr	GRCh37	15	72859447	72859447	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	A	A			BCM683T																					ENST00000379887.4:c.955T>A	p.Trp319Arg	p.W319R	ENST00000379887	NM_005744.3	319	Tgg/Agg	0	validated		possiblydamaging	
UTP15		inserm.fr	GRCh37	5	72864359	72864359	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC432T																					ENST00000296792.4:c.298G>A	p.Glu100Lys	p.E100K	ENST00000296792	NM_032175.2	100	Gaa/Aaa	0	not done		probablydamaging	
SHQ1		inserm.fr	GRCh37	3	72873584	72873584	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM545T																					ENST00000325599.8:c.718G>T	p.Ala240Ser	p.A240S	ENST00000325599	NM_018130.2	240	Gct/Tct	0	validated		possiblydamaging	
RIMS1		inserm.fr	GRCh37	6	72892314	72892314	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000521978.1:c.1140G>A	p.Arg380=	p.R380=	ENST00000521978	NM_014989.5	380	cgG/cgA	0	not done		synonymous	
SMC5		inserm.fr	GRCh37	9	72893425	72893425	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000361138.5:c.562G>A	p.Ala188Thr	p.A188T	ENST00000361138	NM_015110.3	188	Gct/Act	0	not done		probablydamaging	
OTOP2		inserm.fr	GRCh37	17	72920811	72920811	+	synonymous_variant	Silent	SNP	C	A	A			CHC1754T																					ENST00000331427.4:c.84C>A	p.Gly28=	p.G28=	ENST00000331427	NM_178160.2	28	ggC/ggA	0	not done		synonymous	
BAZ1B		inserm.fr	GRCh37	7	72936240	72936240	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000339594.4:c.24G>T	p.Lys8Asn	p.K8N	ENST00000339594	NM_032408.3	8	aaG/aaT	0	not done		possiblydamaging	
OTOP3		inserm.fr	GRCh37	17	72943002	72943002	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1186T																					ENST00000328801.4:c.1052G>A	p.Gly351Asp	p.G351D	ENST00000328801	NM_001272005.1	351	gGt/gAt	0	not done		probablydamaging	
OTOP3		inserm.fr	GRCh37	17	72943143	72943143	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000328801.4:c.1193G>A	p.Gly398Glu	p.G398E	ENST00000328801	NM_001272005.1	398	gGg/gAg	0	not done		possiblydamaging	
OTOP3		inserm.fr	GRCh37	17	72943311	72943311	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC326T																					ENST00000328801.4:c.1361C>A	p.Ser454Ter	p.S454*	ENST00000328801	NM_001272005.1	454	tCg/tAg	0	validated		damaging	
OTOP3		inserm.fr	GRCh37	17	72943433	72943433	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM545T																					ENST00000328801.4:c.1483C>A	p.Arg495Ser	p.R495S	ENST00000328801	NM_001272005.1	495	Cgc/Agc	0	validated		possiblydamaging	
RIMS1		inserm.fr	GRCh37	6	72945352	72945352	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000521978.1:c.1778G>A	p.Gly593Glu	p.G593E	ENST00000521978	NM_014989.5	593	gGg/gAg	0	not done		probablydamaging	
TRPA1		inserm.fr	GRCh37	8	72950241	72950241	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC805T																					ENST00000262209.4:c.2362G>T	p.Glu788Ter	p.E788*	ENST00000262209	NM_007332.2	788	Gaa/Taa	0	not done		damaging	
GXYLT2		inserm.fr	GRCh37	3	72957556	72957556	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1185T																					ENST00000389617.4:c.314C>A	p.Pro105Gln	p.P105Q	ENST00000389617	NM_001080393.1	105	cCa/cAa	0	not done		probablydamaging	
HID1		inserm.fr	GRCh37	17	72958385	72958385	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1720T																					ENST00000425042.2:c.555G>T	p.Glu185Asp	p.E185D	ENST00000425042	NM_030630.2	185	gaG/gaT	0	not done		benign	
TRPA1		inserm.fr	GRCh37	8	72967763	72967763	+	synonymous_variant	Silent	SNP	G	A	A			CHC1600T																					ENST00000262209.4:c.1437C>T	p.Asp479=	p.D479=	ENST00000262209	NM_007332.2	479	gaC/gaT	0	not done		synonymous	
TRPA1		inserm.fr	GRCh37	8	72967783	72967783	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1717T																					ENST00000262209.4:c.1417A>T	p.Arg473Trp	p.R473W	ENST00000262209	NM_007332.2	473	Agg/Tgg	0	not done		probablydamaging	
ZFHX3		inserm.fr	GRCh37	16	72993228	72993228	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1751T																					ENST00000268489.5:c.817G>T	p.Val273Leu	p.V273L	ENST00000268489	NM_006885.3	273	Gtg/Ttg	0	not done		probablydamaging	
ZFHX3		inserm.fr	GRCh37	16	72993602	72993602	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC912T									Valid												ENST00000268489.5:c.443G>T	p.Ser148Ile	p.S148I	ENST00000268489	NM_006885.3	148	aGc/aTc	0	validated		probablydamaging	
ZFHX3		inserm.fr	GRCh37	16	72993828	72993828	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000268489.5:c.217G>T	p.Glu73Ter	p.E73*	ENST00000268489	NM_006885.3	73	Gag/Tag	0	not done		damaging	
ARHGEF17		inserm.fr	GRCh37	11	73021141	73021141	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000263674.3:c.1458G>A	p.Arg486=	p.R486=	ENST00000263674	NM_014786.3	486	agG/agA	0	not done		synonymous	
ARHGEF17		inserm.fr	GRCh37	11	73021470	73021470	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC801T																					ENST00000263674.3:c.1787G>A	p.Arg596His	p.R596H	ENST00000263674	NM_014786.3	596	cGc/cAc	0	not done		probablydamaging	
ARHGEF17		inserm.fr	GRCh37	11	73022530	73022530	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000263674.3:c.2847G>A	p.Arg949=	p.R949=	ENST00000263674	NM_014786.3	949	cgG/cgA	0	not done		synonymous	
ARHGEF17		inserm.fr	GRCh37	11	73022659	73022659	+	synonymous_variant	Silent	SNP	C	A	A			CHC1065T																					ENST00000263674.3:c.2976C>A	p.Thr992=	p.T992=	ENST00000263674	NM_014786.3	992	acC/acA	0	validated		synonymous	
KLF9		inserm.fr	GRCh37	9	73028258	73028258	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2351T																					ENST00000377126.2:c.22G>T	p.Asp8Tyr	p.D8Y	ENST00000377126	NM_001206.2	8	Gac/Tac	0	not done		probablydamaging	
UNC5B		inserm.fr	GRCh37	10	73039624	73039624	+	synonymous_variant	Silent	SNP	G	A	A			CHC2103T																					ENST00000335350.6:c.126G>A	p.Ala42=	p.A42=	ENST00000335350	NM_170744.4	42	gcG/gcA	0	not done		synonymous	
TRHDE		inserm.fr	GRCh37	12	73046841	73046841	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1743T																					ENST00000261180.4:c.2754T>A	p.Asp918Glu	p.D918E	ENST00000261180	NM_013381.2	918	gaT/gaA	0	not done		probablydamaging	
UNC5B		inserm.fr	GRCh37	10	73051445	73051445	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000335350.6:c.1551G>A	p.Arg517=	p.R517=	ENST00000335350	NM_170744.4	517	cgG/cgA	0	not done		synonymous	
UNC5B		inserm.fr	GRCh37	10	73051534	73051534	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM783T																					ENST00000335350.6:c.1640G>A	p.Gly547Asp	p.G547D	ENST00000335350	NM_170744.4	547	gGc/gAc	0	validated		probablydamaging	
UNC5B		inserm.fr	GRCh37	10	73058988	73058988	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC051T									Valid												ENST00000335350.6:c.2792G>A	p.Gly931Asp	p.G931D	ENST00000335350	NM_170744.4	931	gGc/gAc	0	validated		probablydamaging	
ARHGEF17		inserm.fr	GRCh37	11	73076727	73076727	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000263674.3:c.5730G>A	p.Ser1910=	p.S1910=	ENST00000263674	NM_014786.3	1910	tcG/tcA	0	not done		synonymous	
ARHGEF17		inserm.fr	GRCh37	11	73076888	73076888	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1531T																					ENST00000263674.3:c.5891G>A	p.Gly1964Asp	p.G1964D	ENST00000263674	NM_014786.3	1964	gGc/gAc	0	not done		probablydamaging	
DNAJC30		inserm.fr	GRCh37	7	73097149	73097149	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2200T																					ENST00000395176.2:c.605G>T	p.Arg202Leu	p.R202L	ENST00000395176	NM_032317.2	202	cGc/cTc	0	not done		possiblydamaging	
SLC29A3		inserm.fr	GRCh37	10	73111538	73111538	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000373189.5:c.603G>A	p.Leu201=	p.L201=	ENST00000373189	NM_018344.5	201	ctG/ctA	0	not done		synonymous	
EBLN2		inserm.fr	GRCh37	3	73111928	73111928	+	synonymous_variant	Silent	SNP	C	A	A			BCM423T																					ENST00000533473.1:c.696C>A	p.Ile232=	p.I232=	ENST00000533473	NM_018029.3	232	atC/atA	0	validated		synonymous	
NLGN2		inserm.fr	GRCh37	17	7311856	7311856	+	synonymous_variant	Silent	SNP	C	A	A			CHC1041T																					ENST00000302926.2:c.282C>A	p.Pro94=	p.P94=	ENST00000302926	NM_020795.3	94	ccC/ccA	0	validated		synonymous	
STX1A		inserm.fr	GRCh37	7	73118578	73118578	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000222812.3:c.366G>T	p.Thr122=	p.T122=	ENST00000222812	NM_004603.3	122	acG/acT	0	not done		synonymous	
HN1		inserm.fr	GRCh37	17	73132179	73132179	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000356033.4:c.464G>T	p.Arg155Leu	p.R155L	ENST00000356033	NM_001002032.1	155	cGc/cTc	0	not done		benign	
ARHGEF28		inserm.fr	GRCh37	5	73153552	73153552	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM683T																					ENST00000545377.1:c.1862G>A	p.Arg621Gln	p.R621Q	ENST00000545377	NM_001080479.2	621	cGa/cAa	0	validated		probablydamaging	
ARHGEF28		inserm.fr	GRCh37	5	73163802	73163802	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000545377.1:c.2254G>A	p.Val752Ile	p.V752I	ENST00000545377	NM_001080479.2	752	Gtc/Atc	0	not done		benign	
TRPM3		inserm.fr	GRCh37	9	73164529	73164529	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC609T									Valid												ENST00000377110.3:c.3600A>T	p.Glu1200Asp	p.E1200D	ENST00000377110		1200	gaA/gaT	0	validated		possiblydamaging	
SFXN5		inserm.fr	GRCh37	2	73188321	73188321	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1186T																					ENST00000272433.2:c.884G>T	p.Cys295Phe	p.C295F	ENST00000272433	NM_144579.2	295	tGc/tTc	0	validated		probablydamaging	
ARHGEF28		inserm.fr	GRCh37	5	73205714	73205714	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000545377.1:c.4639G>A	p.Gly1547Ser	p.G1547S	ENST00000545377	NM_001080479.2	1547	Ggc/Agc	0	not done		benign	
SPEM1		inserm.fr	GRCh37	17	7324442	7324442	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1052T																					ENST00000323675.3:c.448G>A	p.Val150Ile	p.V150I	ENST00000323675	NM_199339.2	150	Gtc/Atc	0	validated		benign	
MIF4GD		inserm.fr	GRCh37	17	73262916	73262916	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1207T																					ENST00000577542.1:c.697C>T	p.Gln233Ter	p.Q233*	ENST00000577542		233	Cag/Tag	0	not done		damaging	
CAGE1		inserm.fr	GRCh37	6	7330112	7330112	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000502583.1:c.2448C>T	p.Ser816=	p.S816=	ENST00000502583	NM_001170692.1	816	agC/agT	0	not done		synonymous	
C17orf74		inserm.fr	GRCh37	17	7330198	7330198	+	synonymous_variant	Silent	SNP	G	A	A			CHC320T																					ENST00000333870.3:c.888G>A	p.Gly296=	p.G296=	ENST00000333870	NM_175734.4	296	ggG/ggA	0	validated		synonymous	
DIS3		inserm.fr	GRCh37	13	73355063	73355063	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1595T																					ENST00000377767.4:c.307G>T	p.Ala103Ser	p.A103S	ENST00000377767	NM_014953.3	103	Gcc/Tcc	0	validated		benign	
NEO1		inserm.fr	GRCh37	15	73418891	73418891	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000339362.5:c.858G>A	p.Glu286=	p.E286=	ENST00000339362		286	gaG/gaA	0	not done		synonymous	
PDZRN3		inserm.fr	GRCh37	3	73432979	73432979	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC923T																					ENST00000263666.4:c.2738C>T	p.Thr913Ile	p.T913I	ENST00000263666	NM_015009.1	913	aCc/aTc	0	not done		benign	
PDZRN3		inserm.fr	GRCh37	3	73450126	73450126	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1148T																					ENST00000263666.4:c.1201G>T	p.Asp401Tyr	p.D401Y	ENST00000263666	NM_015009.1	401	Gac/Tac	0	not done		probablydamaging	
CDH23		inserm.fr	GRCh37	10	73450265	73450265	+	synonymous_variant	Silent	SNP	C	A	A			CHC1035T																					ENST00000224721.6:c.2115C>A	p.Arg705=	p.R705=	ENST00000224721	NM_022124.5	705	cgC/cgA	0	validated		synonymous	
ELN		inserm.fr	GRCh37	7	73450891	73450891	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000252034.7:c.140G>A	p.Gly47Asp	p.G47D	ENST00000252034	NM_000501.3	47	gGt/gAt	0	not done		probablydamaging	
PDZRN3		inserm.fr	GRCh37	3	73453468	73453468	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC218T																					ENST00000263666.4:c.997G>T	p.Val333Leu	p.V333L	ENST00000263666	NM_015009.1	333	Gtg/Ttg	0	validated		probablydamaging	
FGF11		inserm.fr	GRCh37	17	7345991	7345991	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM735T									Valid												ENST00000293829.4:c.487C>A	p.Arg163Ser	p.R163S	ENST00000293829	NM_004112.2	163	Cgc/Agc	0	validated		probablydamaging	
CCT7		inserm.fr	GRCh37	2	73471769	73471769	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2110Tbis																					ENST00000258091.5:c.544G>A	p.Ala182Thr	p.A182T	ENST00000258091	NM_006429.3	182	Gca/Aca	0	not done		probablydamaging	
CASKIN2		inserm.fr	GRCh37	17	73502934	73502934	+	synonymous_variant	Silent	SNP	G	A	A			CHC1041T																					ENST00000321617.3:c.432C>T	p.Val144=	p.V144=	ENST00000321617	NM_020753.4	144	gtC/gtT	0	validated		synonymous	
EGR4		inserm.fr	GRCh37	2	73519125	73519125	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000545030.1:c.1230G>T	p.Thr410=	p.T410=	ENST00000545030	NM_001965.3	410	acG/acT	0	validated		synonymous	
EGR4		inserm.fr	GRCh37	2	73519596	73519596	+	synonymous_variant	Silent	SNP	G	A	A			BCM617T																					ENST00000545030.1:c.759C>T	p.Gly253=	p.G253=	ENST00000545030	NM_001965.3	253	ggC/ggT	0	validated		synonymous	
ZCCHC13		inserm.fr	GRCh37	X	73524588	73524588	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1747T																					ENST00000339534.2:c.487G>A	p.Gly163Arg	p.G163R	ENST00000339534	NM_203303.2	163	Gga/Aga	0	not done		benign	
PEX5		inserm.fr	GRCh37	12	7354868	7354868	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000434354.2:c.719G>A	p.Gly240Glu	p.G240E	ENST00000434354	NM_001131023.1	240	gGg/gAg	0	not done		probablydamaging	
LLGL2		inserm.fr	GRCh37	17	73567064	73567064	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000392550.3:c.2059G>A	p.Gly687Ser	p.G687S	ENST00000392550	NM_001031803.1	687	Ggc/Agc	0	not done		benign	
LLGL2		inserm.fr	GRCh37	17	73569169	73569169	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000392550.3:c.2535G>A	p.Arg845=	p.R845=	ENST00000392550	NM_001031803.1	845	cgG/cgA	0	not done		synonymous	
CDH23		inserm.fr	GRCh37	10	73574834	73574834	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM325T																					ENST00000398788.3:c.3144C>A	p.Ser1048Arg	p.S1048R	ENST00000398788	NM_001171933.1	1048	agC/agA	0	validated		probablydamaging	
NEO1		inserm.fr	GRCh37	15	73585875	73585875	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000339362.5:c.3887G>A	p.Arg1296Lys	p.R1296K	ENST00000339362		1296	aGg/aAg	0	not done		benign	
PAAF1		inserm.fr	GRCh37	11	73611391	73611391	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000310571.3:c.458G>A	p.Gly153Glu	p.G153E	ENST00000310571	NM_025155.2	153	gGa/gAa	0	validated		probablydamaging	
HCN4		inserm.fr	GRCh37	15	73615870	73615870	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1545T																					ENST00000261917.3:c.2564C>T	p.Ser855Phe	p.S855F	ENST00000261917	NM_005477.2	855	tCc/tTc	0	not done		probablydamaging	
ZBTB4		inserm.fr	GRCh37	17	7365648	7365648	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM257T																					ENST00000311403.4:c.2653G>T	p.Glu885Ter	p.E885*	ENST00000311403	NM_020899.3	885	Gaa/Taa	0	validated		damaging	
RECQL5		inserm.fr	GRCh37	17	73657090	73657090	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1604T																					ENST00000317905.5:c.931C>T	p.Pro311Ser	p.P311S	ENST00000317905	NM_004259.6	311	Cct/Tct	0	not done		possiblydamaging	
ALMS1		inserm.fr	GRCh37	2	73678295	73678295	+	synonymous_variant	Silent	SNP	T	A	A			CHC2098T																					ENST00000264448.6:c.4638T>A	p.Ala1546=	p.A1546=	ENST00000264448	NM_015120.4	1546	gcT/gcA	0	not done		synonymous	
UCP2		inserm.fr	GRCh37	11	73687926	73687926	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000310473.3:c.474C>T	p.Ser158=	p.S158=	ENST00000310473	NM_003355.2	158	agC/agT	0	not done		synonymous	
UCP2		inserm.fr	GRCh37	11	73689060	73689060	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1192T																					ENST00000310473.3:c.208G>T	p.Val70Leu	p.V70L	ENST00000310473	NM_003355.2	70	Gtg/Ttg	0	not done		benign	
ITGB4		inserm.fr	GRCh37	17	73729759	73729759	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000200181.3:c.1643G>A	p.Gly548Glu	p.G548E	ENST00000200181	NM_000213.3	548	gGg/gAg	0	not done		probablydamaging	
ITGB4		inserm.fr	GRCh37	17	73732654	73732654	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000200181.3:c.1869G>A	p.Pro623=	p.P623=	ENST00000200181	NM_000213.3	623	ccG/ccA	0	not done		synonymous	
PAPLN		inserm.fr	GRCh37	14	73735401	73735401	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000340738.5:c.3556C>A	p.Arg1186Ser	p.R1186S	ENST00000340738	NM_173462.3	1186	Cgc/Agc	0	not done		possiblydamaging	
ITGB4		inserm.fr	GRCh37	17	73738538	73738538	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000200181.3:c.2750C>A	p.Ala917Asp	p.A917D	ENST00000200181	NM_000213.3	917	gCc/gAc	0	not done		probablydamaging	
CAGE1		inserm.fr	GRCh37	6	7374361	7374361	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1747T																					ENST00000502583.1:c.691G>T	p.Ala231Ser	p.A231S	ENST00000502583	NM_001170692.1	231	Gca/Tca	0	not done		benign	
C2CD3		inserm.fr	GRCh37	11	73748606	73748606	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000313663.7:c.5798G>T	p.Gly1933Val	p.G1933V	ENST00000313663	NM_015531.4	1933	gGt/gTt	0	not done		benign	
CHST3		inserm.fr	GRCh37	10	73767612	73767612	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373115.4:c.823G>A	p.Val275Met	p.V275M	ENST00000373115	NM_004273.4	275	Gtg/Atg	0	not done		probablydamaging	
CHST3		inserm.fr	GRCh37	10	73767698	73767698	+	synonymous_variant	Silent	SNP	C	A	A			CHC322T																					ENST00000373115.4:c.909C>A	p.Pro303=	p.P303=	ENST00000373115	NM_004273.4	303	ccC/ccA	0	validated		synonymous	
CLIP2		inserm.fr	GRCh37	7	73771684	73771684	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000223398.6:c.1092G>A	p.Lys364=	p.K364=	ENST00000223398	NM_003388.4	364	aaG/aaA	0	not done		synonymous	
CLIP2		inserm.fr	GRCh37	7	73774544	73774544	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM397T									Valid												ENST00000223398.6:c.1255C>A	p.Leu419Met	p.L419M	ENST00000223398	NM_003388.4	419	Ctg/Atg	0	validated		possiblydamaging	
CLIP2		inserm.fr	GRCh37	7	73803494	73803494	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000223398.6:c.2625G>A	p.Arg875=	p.R875=	ENST00000223398	NM_003388.4	875	cgG/cgA	0	not done		synonymous	
RLIM		inserm.fr	GRCh37	X	73811645	73811645	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000332687.6:c.1505C>T	p.Ser502Leu	p.S502L	ENST00000332687	NM_016120.3	502	tCa/tTa	0	not done		benign	
RLIM		inserm.fr	GRCh37	X	73812374	73812374	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000332687.6:c.776C>T	p.Thr259Met	p.T259M	ENST00000332687	NM_016120.3	259	aCg/aTg	0	not done		benign	
ALMS1		inserm.fr	GRCh37	2	73830393	73830393	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000264448.6:c.12321G>A	p.Lys4107=	p.K4107=	ENST00000264448	NM_015120.4	4107	aaG/aaA	0	not done		synonymous	
KCNB2		inserm.fr	GRCh37	8	73848291	73848291	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T									Valid												ENST00000523207.1:c.701C>A	p.Ala234Glu	p.A234E	ENST00000523207	NM_004770.2	234	gCa/gAa	0	validated		possiblydamaging	
C2CD3		inserm.fr	GRCh37	11	73849958	73849958	+	synonymous_variant	Silent	SNP	G	A	A			CHC2034T																					ENST00000313663.7:c.762C>T	p.Ser254=	p.S254=	ENST00000313663	NM_015531.4	254	tcC/tcT	0	not done		synonymous	
NPTN		inserm.fr	GRCh37	15	73889487	73889487	+	synonymous_variant	Silent	SNP	C	A	A			CHC1715T																					ENST00000345330.4:c.315G>T	p.Arg105=	p.R105=	ENST00000345330	NM_012428.3	105	cgG/cgT	0	not done		synonymous	
NPTN		inserm.fr	GRCh37	15	73889711	73889711	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC1598T																					ENST00000345330.4:c.92-1G>T		p.X31_splice	ENST00000345330	NM_012428.3			0	not done		possiblydamaging	
MRPL38		inserm.fr	GRCh37	17	73895628	73895628	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC703T																					ENST00000309352.3:c.838G>T	p.Asp280Tyr	p.D280Y	ENST00000309352	NM_032478.3	280	Gac/Tac	0	validated		possiblydamaging	
MRPL38		inserm.fr	GRCh37	17	73895743	73895743	+	synonymous_variant	Silent	SNP	C	A	A			CHC614T																					ENST00000309352.3:c.723G>T	p.Pro241=	p.P241=	ENST00000309352	NM_032478.3	241	ccG/ccT	0	validated		synonymous	
TERF1		inserm.fr	GRCh37	8	73921321	73921321	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1186T																					ENST00000276603.5:c.200T>A	p.Val67Glu	p.V67E	ENST00000276603	NM_017489.2	67	gTg/gAg	0	validated		possiblydamaging	
ENC1		inserm.fr	GRCh37	5	73930596	73930596	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1531T																					ENST00000302351.4:c.1715C>T	p.Pro572Leu	p.P572L	ENST00000302351	NM_003633.3	572	cCg/cTg	0	not done		probablydamaging	
TERF1		inserm.fr	GRCh37	8	73937146	73937146	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000276603.5:c.714G>A	p.Glu238=	p.E238=	ENST00000276603	NM_017489.2	238	gaG/gaA	0	not done		synonymous	
PPME1		inserm.fr	GRCh37	11	73941418	73941418	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000328257.8:c.527G>A	p.Gly176Asp	p.G176D	ENST00000328257	NM_016147.2	176	gGt/gAt	0	not done		probablydamaging	
HEATR4		inserm.fr	GRCh37	14	73945338	73945338	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000553558.1:c.3054C>T	p.Pro1018=	p.P1018=	ENST00000553558	NM_001220484.1	1018	ccC/ccT	0	not done		synonymous	
ASCC1		inserm.fr	GRCh37	10	73956664	73956664	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC197T									Valid												ENST00000342444.4:c.478C>T	p.Pro160Ser	p.P160S	ENST00000342444	NM_001198799.2	160	Ccc/Tcc	0	validated		probablydamaging	
SBSPON		inserm.fr	GRCh37	8	73984086	73984086	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000297354.6:c.429C>T	p.Thr143=	p.T143=	ENST00000297354	NM_153225.3	143	acC/acT	0	not done		synonymous	
CD276		inserm.fr	GRCh37	15	73995222	73995222	+	synonymous_variant	Silent	SNP	G	A	A			CHC1183T																					ENST00000318443.5:c.528G>A	p.Val176=	p.V176=	ENST00000318443	NM_001024736.1	176	gtG/gtA	0	not done		synonymous	
EVPL		inserm.fr	GRCh37	17	74006621	74006621	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM257T																					ENST00000301607.3:c.2665G>T	p.Glu889Ter	p.E889*	ENST00000301607	NM_001988.2	889	Gag/Tag	0	validated		damaging	
C15orf59		inserm.fr	GRCh37	15	74032722	74032722	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000569673.1:c.418C>T	p.Arg140Cys	p.R140C	ENST00000569673		140	Cgc/Tgc	0	not done		benign	
C2orf78		inserm.fr	GRCh37	2	74041129	74041129	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000409561.1:c.623G>A	p.Gly208Glu	p.G208E	ENST00000409561	NM_001080474.1	208	gGa/gAa	0	not done		probablydamaging	
C2orf78		inserm.fr	GRCh37	2	74042496	74042496	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC051T																					ENST00000409561.1:c.1146T>A	p.Asn382Lys	p.N382K	ENST00000409561	NM_001080474.1	382	aaT/aaA	0	validated		probablydamaging	
POLR2A		inserm.fr	GRCh37	17	7405223	7405223	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC898T																					ENST00000322644.6:c.2354T>A	p.Ile785Asn	p.I785N	ENST00000322644	NM_000937.4	785	aTt/aAt	0	not done		probablydamaging	
PGM2L1		inserm.fr	GRCh37	11	74056522	74056522	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T																					ENST00000298198.4:c.1210C>T	p.His404Tyr	p.H404Y	ENST00000298198	NM_173582.3	404	Cat/Tat	0	validated		benign	
OOEP		inserm.fr	GRCh37	6	74079402	74079402	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000370359.5:c.114C>T	p.Pro38=	p.P38=	ENST00000370359	NM_001080507.2	38	ccC/ccT	0	not done		synonymous	
EXOC7		inserm.fr	GRCh37	17	74079751	74079751	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB167T																					ENST00000335146.7:c.2186G>T	p.Arg729Leu	p.R729L	ENST00000335146		729	cGc/cTc	0	validated		probablydamaging	
DNAJB12		inserm.fr	GRCh37	10	74100608	74100608	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000338820.3:c.764G>T	p.Ser255Ile	p.S255I	ENST00000338820	NM_001002762.2	255	aGc/aTc	0	not done		probablydamaging	
DDX43		inserm.fr	GRCh37	6	74111661	74111661	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB167T																					ENST00000370336.4:c.516T>A	p.Asp172Glu	p.D172E	ENST00000370336	NM_018665.2	172	gaT/gaA	0	validated		probablydamaging	
DDX43		inserm.fr	GRCh37	6	74123777	74123777	+	synonymous_variant	Silent	SNP	G	A	A			CHC1600T																					ENST00000370336.4:c.1581G>A	p.Glu527=	p.E527=	ENST00000370336	NM_018665.2	527	gaG/gaA	0	not done		synonymous	
FOXJ1		inserm.fr	GRCh37	17	74136303	74136303	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000322957.6:c.174C>T	p.Asp58=	p.D58=	ENST00000322957	NM_001454.3	58	gaC/gaT	0	not done		synonymous	
RNF157		inserm.fr	GRCh37	17	74141367	74141367	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000269391.6:c.1989C>T	p.Ser663=	p.S663=	ENST00000269391	NM_052916.2	663	agC/agT	0	not done		synonymous	
ACTG2		inserm.fr	GRCh37	2	74141859	74141859	+	synonymous_variant	Silent	SNP	G	A	A			CHC2127T																					ENST00000409624.1:c.666G>A	p.Leu222=	p.L222=	ENST00000409624		222	ctG/ctA	0	not done		synonymous	
ACTG2		inserm.fr	GRCh37	2	74143837	74143837	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1205T																					ENST00000409624.1:c.932C>A	p.Ala311Asp	p.A311D	ENST00000409624		311	gCt/gAt	0	validated		possiblydamaging	
POLR2A		inserm.fr	GRCh37	17	7414549	7414549	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000322644.6:c.3829G>A	p.Asp1277Asn	p.D1277N	ENST00000322644	NM_000937.4	1277	Gac/Aac	0	not done		probablydamaging	
ACTG2		inserm.fr	GRCh37	2	74146654	74146654	+	synonymous_variant	Silent	SNP	T	A	A			CHC1756T																					ENST00000409624.1:c.1083T>A	p.Pro361=	p.P361=	ENST00000409624		361	ccT/ccA	0	not done		synonymous	
MB21D1		inserm.fr	GRCh37	6	74150025	74150025	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC912T																					ENST00000370315.3:c.1021C>T	p.Gln341Ter	p.Q341*	ENST00000370315	NM_138441.2	341	Caa/Taa	0	validated		damaging	
LOC100130301		inserm.fr	GRCh37	8	74153793	74153793	+		IGR	SNP	C	A	A			BCM567T																												0	validated		damaging	
RNF157		inserm.fr	GRCh37	17	74157656	74157656	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000269391.6:c.1025C>T	p.Pro342Leu	p.P342L	ENST00000269391	NM_052916.2	342	cCc/cTc	0	not done		probablydamaging	
ELMSAN1		inserm.fr	GRCh37	14	74196603	74196603	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1530T																					ENST00000286523.5:c.1835C>T	p.Pro612Leu	p.P612L	ENST00000286523	NM_194278.3	612	cCc/cTc	0	not done		probablydamaging	
LOXL1		inserm.fr	GRCh37	15	74219756	74219756	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000261921.7:c.632G>A	p.Gly211Asp	p.G211D	ENST00000261921	NM_005576.2	211	gGc/gAc	0	not done		probablydamaging	
LOXL1		inserm.fr	GRCh37	15	74219911	74219911	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM791T																					ENST00000261921.7:c.787C>A	p.Pro263Thr	p.P263T	ENST00000261921	NM_005576.2	263	Ccg/Acg	0	validated		benign	
EEF1A1		inserm.fr	GRCh37	6	74227628	74227628	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC614T																					ENST00000316292.9:c.1294A>T	p.Thr432Ser	p.T432S	ENST00000316292	NM_001402.5	432	Aca/Tca	0	validated		benign	
LOXL1		inserm.fr	GRCh37	15	74240214	74240214	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1044T																					ENST00000261921.7:c.1573G>A	p.Asp525Asn	p.D525N	ENST00000261921	NM_005576.2	525	Gac/Aac	0	not done		probablydamaging	
ALB		inserm.fr	GRCh37	4	74272474	74272474	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1708T																					ENST00000295897.4:c.266C>A	p.Ser89Ter	p.S89*	ENST00000295897	NM_000477.5	89	tCa/tAa	0	not done		damaging	
ABCB7		inserm.fr	GRCh37	X	74273243	74273243	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC892T																					ENST00000253577.3:c.2224G>T	p.Val742Phe	p.V742F	ENST00000253577	NM_001271696.1	742	Gtc/Ttc	0	not done		benign	
ALB		inserm.fr	GRCh37	4	74274345	74274345	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2351T																					ENST00000295897.4:c.305C>A	p.Ala102Glu	p.A102E	ENST00000295897	NM_000477.5	102	gCa/gAa	0	not done		benign	
TET3		inserm.fr	GRCh37	2	74274347	74274347	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1742T																					ENST00000409262.3:c.898G>A	p.Glu300Lys	p.E300K	ENST00000409262	NM_144993.1	300	Gaa/Aaa	0	not done		benign	
ALB		inserm.fr	GRCh37	4	74274453	74274453	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1566T																					ENST00000295897.4:c.413G>A	p.Arg138Gln	p.R138Q	ENST00000295897	NM_000477.5	138	cGa/cAa	0	not done		benign	
ALB		inserm.fr	GRCh37	4	74277783	74277783	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM723T																					ENST00000295897.4:c.784C>A	p.Leu262Ile	p.L262I	ENST00000295897	NM_000477.5	262	Ctt/Att	0	validated		benign	
ALB		inserm.fr	GRCh37	4	74281975	74281975	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC889T																					ENST00000295897.4:c.1194C>A	p.Phe398Leu	p.F398L	ENST00000295897	NM_000477.5	398	ttC/ttA	0	not done		benign	
QRICH2		inserm.fr	GRCh37	17	74289933	74289933	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC884T																					ENST00000262765.5:c.377C>T	p.Ala126Val	p.A126V	ENST00000262765	NM_032134.1	126	gCa/gTa	0	validated		benign	
PML		inserm.fr	GRCh37	15	74315341	74315341	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000268058.3:c.775G>A	p.Ala259Thr	p.A259T	ENST00000268058	NM_033238.2	259	Gcg/Acg	0	validated		possiblydamaging	
PRPSAP1		inserm.fr	GRCh37	17	74326725	74326725	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2206T																					ENST00000446526.3:c.486G>T	p.Met162Ile	p.M162I	ENST00000446526	NM_002766.2	162	atG/atT	0	not done		possiblydamaging	
PML		inserm.fr	GRCh37	15	74327795	74327795	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000268058.3:c.1710+924G>A		*570*	ENST00000268058	NM_033238.2			0	not done			
RP11-252A24.2		inserm.fr	GRCh37	16	74382791	74382791	+	non_coding_transcript_exon_variant	RNA	SNP	T	A	A			CHC1148T																					ENST00000429810.2:n.1060A>T		*354*	ENST00000429810				0	not done			
UBE2O		inserm.fr	GRCh37	17	74387063	74387063	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000319380.7:c.3840G>T	p.Leu1280=	p.L1280=	ENST00000319380	NM_022066.3	1280	ctG/ctT	0	not done		synonymous	
UBE2O		inserm.fr	GRCh37	17	74388091	74388091	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC789T																					ENST00000319380.7:c.3050C>T	p.Pro1017Leu	p.P1017L	ENST00000319380	NM_022066.3	1017	cCc/cTc	0	not done		probablydamaging	
FAM161B		inserm.fr	GRCh37	14	74413274	74413274	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000286544.3:c.278C>T	p.Ala93Val	p.A93V	ENST00000286544	NM_152445.2	93	gCa/gTa	0	validated		benign	
CNTN3		inserm.fr	GRCh37	3	74418355	74418355	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1744T																					ENST00000263665.6:c.931C>T	p.Arg311Cys	p.R311C	ENST00000263665	NM_020872.1	311	Cgt/Tgt	0	not done		probablydamaging	
ISLR2		inserm.fr	GRCh37	15	74426271	74426271	+	synonymous_variant	Silent	SNP	C	A	A			CHC898T																					ENST00000361742.3:c.1176C>A	p.Ala392=	p.A392=	ENST00000361742	NM_001130136.1	392	gcC/gcA	0	not done		synonymous	
ISLR2		inserm.fr	GRCh37	15	74426631	74426631	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000361742.3:c.1536G>A	p.Gly512=	p.G512=	ENST00000361742	NM_001130136.1	512	ggG/ggA	0	not done		synonymous	
ANKRD31		inserm.fr	GRCh37	5	74442350	74442350	+	synonymous_variant	Silent	SNP	G	A	A			CHC1715T																					ENST00000506364.2:c.2886C>T	p.Ser962=	p.S962=	ENST00000506364		962	agC/agT	0	not done		synonymous	
RNF169		inserm.fr	GRCh37	11	74460229	74460229	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1725T																					ENST00000299563.4:c.304G>A	p.Gly102Ser	p.G102S	ENST00000299563	NM_001098638.1	102	Ggt/Agt	0	validated		probablydamaging	
STAU2		inserm.fr	GRCh37	8	74464388	74464388	+	synonymous_variant	Silent	SNP	T	A	A			BCB307T																					ENST00000524300.1:c.1389A>T	p.Thr463=	p.T463=	ENST00000524300	NM_001164381.1	463	acA/acT	0	validated		synonymous	
ISLR		inserm.fr	GRCh37	15	74467210	74467210	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM567T									Valid												ENST00000249842.3:c.11T>A	p.Leu4Gln	p.L4Q	ENST00000249842	NM_005545.3	4	cTg/cAg	0	validated		probablydamaging	
RHBDF2		inserm.fr	GRCh37	17	74469964	74469964	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2110Tbis																					ENST00000313080.4:c.1682C>T	p.Ser561Phe	p.S561F	ENST00000313080	NM_024599.5	561	tCc/tTc	0	not done		probablydamaging	
RHBDF2		inserm.fr	GRCh37	17	74475033	74475033	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1035T																					ENST00000313080.4:c.614C>T	p.Pro205Leu	p.P205L	ENST00000313080	NM_024599.5	205	cCc/cTc	0	validated		benign	
CD109		inserm.fr	GRCh37	6	74481241	74481241	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000287097.5:c.1764G>A	p.Gly588=	p.G588=	ENST00000287097		588	ggG/ggA	0	not done		synonymous	
GLG1		inserm.fr	GRCh37	16	74487222	74487222	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM321T									Valid												ENST00000205061.5:c.3383C>T	p.Ala1128Val	p.A1128V	ENST00000205061	NM_012201.5	1128	gCa/gTa	0	validated		possiblydamaging	
STRA6		inserm.fr	GRCh37	15	74487696	74487696	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000563965.1:c.661G>T	p.Ala221Ser	p.A221S	ENST00000563965		221	Gcc/Tcc	0	not done		possiblydamaging	
STRA6		inserm.fr	GRCh37	15	74488004	74488004	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1704T																					ENST00000563965.1:c.536A>T	p.Glu179Val	p.E179V	ENST00000563965		179	gAg/gTg	0	not done		benign	
UPRT		inserm.fr	GRCh37	X	74494434	74494434	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM483T																					ENST00000373383.4:c.345G>A	p.Met115Ile	p.M115I	ENST00000373383	NM_145052.3	115	atG/atA	0	validated		benign	
STAU2		inserm.fr	GRCh37	8	74495040	74495040	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC205T									Valid												ENST00000524300.1:c.1187G>T	p.Gly396Val	p.G396V	ENST00000524300	NM_001164381.1	396	gGt/gTt	0	validated		possiblydamaging	
CD109		inserm.fr	GRCh37	6	74516768	74516768	+	synonymous_variant	Silent	SNP	T	A	A			CHC609T																					ENST00000287097.5:c.3162T>A	p.Thr1054=	p.T1054=	ENST00000287097		1054	acT/acA	0	validated		synonymous	
CD109		inserm.fr	GRCh37	6	74517927	74517927	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1205T																					ENST00000287097.5:c.3311C>A	p.Ala1104Glu	p.A1104E	ENST00000287097		1104	gCg/gAg	0	not done		probablydamaging	
STAU2		inserm.fr	GRCh37	8	74526170	74526170	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1209T																					ENST00000524300.1:c.700C>T	p.Pro234Ser	p.P234S	ENST00000524300	NM_001164381.1	234	Cca/Tca	0	not done		probablydamaging	
CNTN3		inserm.fr	GRCh37	3	74535671	74535671	+	synonymous_variant	Silent	SNP	G	A	A			CHC1211T																					ENST00000263665.6:c.294C>T	p.Tyr98=	p.Y98=	ENST00000263665	NM_020872.1	98	taC/taT	0	not done		synonymous	
ALDH6A1		inserm.fr	GRCh37	14	74538034	74538034	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1731T																					ENST00000553458.1:c.594G>T	p.Met198Ile	p.M198I	ENST00000553458	NM_001278593.1	198	atG/atT	0	not done		benign	
DCTN1		inserm.fr	GRCh37	2	74595169	74595169	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC097T																					ENST00000361874.3:c.1944G>T	p.Glu648Asp	p.E648D	ENST00000361874	NM_004082.4	648	gaG/gaT	0	not done		probablydamaging	
DCTN1		inserm.fr	GRCh37	2	74597474	74597474	+	splice_acceptor_variant	Splice_Site	SNP	T	A	A			CHC1148T																					ENST00000361874.3:c.1128-2A>T		p.X376_splice	ENST00000361874	NM_004082.4			0	not done		possiblydamaging	
CCDC33		inserm.fr	GRCh37	15	74623609	74623609	+	synonymous_variant	Silent	SNP	G	A	A			CHC1629T																					ENST00000398814.3:c.1743G>A	p.Leu581=	p.L581=	ENST00000398814	NM_025055.4	581	ctG/ctA	0	not done		synonymous	
ZNF236		inserm.fr	GRCh37	18	74639138	74639138	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000253159.8:c.4167G>A	p.Gln1389=	p.Q1389=	ENST00000253159	NM_007345.3	1389	caG/caA	0	not done		damaging	
C2orf81		inserm.fr	GRCh37	2	74641564	74641564	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000290390.5:c.1659C>T	p.Thr553=	p.T553=	ENST00000290390	NM_001145054.1	553	acC/acT	0	not done		synonymous	
HMGCR		inserm.fr	GRCh37	5	74646752	74646752	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1763T																					ENST00000287936.4:c.919C>A	p.Leu307Ile	p.L307I	ENST00000287936	NM_000859.2	307	Ctc/Atc	0	not done		benign	
RTKN		inserm.fr	GRCh37	2	74656983	74656983	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM735T									Valid												ENST00000272430.5:c.727C>T	p.Pro243Ser	p.P243S	ENST00000272430	NM_001015055.1	243	Ccc/Tcc	0	validated		possiblydamaging	
CYP11A1		inserm.fr	GRCh37	15	74659830	74659830	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000268053.6:c.97C>T	p.Pro33Ser	p.P33S	ENST00000268053	NM_000781.2	33	Ccc/Tcc	0	not done		benign	
SENP3		inserm.fr	GRCh37	17	7468045	7468045	+	synonymous_variant	Silent	SNP	G	A	A			CHC1180T																					ENST00000429205.2:c.819G>A	p.Val273=	p.V273=	ENST00000429205		273	gtG/gtA	0	validated		synonymous	
MRPL53		inserm.fr	GRCh37	2	74699306	74699306	+	synonymous_variant	Silent	SNP	G	A	A			CHC205T																					ENST00000258105.7:c.279C>T	p.His93=	p.H93=	ENST00000258105	NM_053050.4	93	caC/caT	0	validated		synonymous	
NEU3		inserm.fr	GRCh37	11	74700195	74700195	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1185T																					ENST00000294064.4:c.90T>A	p.Ser30Arg	p.S30R	ENST00000294064	NM_006656.5	30	agT/agA	0	not done		benign	
ACSM4		inserm.fr	GRCh37	12	7470630	7470630	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1569T																					ENST00000399422.4:c.773T>A	p.Leu258Gln	p.L258Q	ENST00000399422	NM_001080454.1	258	cTg/cAg	0	not done		possiblydamaging	
MLKL		inserm.fr	GRCh37	16	74708974	74708974	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1052T									Valid												ENST00000308807.7:c.1265A>T	p.Lys422Met	p.K422M	ENST00000308807	NM_152649.2	422	aAg/aTg	0	validated		possiblydamaging	
NEU3		inserm.fr	GRCh37	11	74717269	74717269	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1205T																					ENST00000294064.4:c.1118G>A	p.Arg373Lys	p.R373K	ENST00000294064	NM_006656.5	373	aGg/aAg	0	not done		probablydamaging	
NEU3		inserm.fr	GRCh37	11	74717381	74717381	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000294064.4:c.1230G>A	p.Glu410=	p.E410=	ENST00000294064	NM_006656.5	410	gaG/gaA	0	not done		synonymous	
METTL23		inserm.fr	GRCh37	17	74729651	74729651	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC912T																					ENST00000341249.6:c.456T>A	p.Cys152Ter	p.C152*	ENST00000341249	NM_001206984.1	152	tgT/tgA	0	validated		damaging	
AUP1		inserm.fr	GRCh37	2	74754122	74754122	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000377526.3:c.1142C>T	p.Ala381Val	p.A381V	ENST00000377526	NM_181575.3	381	gCc/gTc	0	not done		benign	
HTRA2		inserm.fr	GRCh37	2	74757186	74757186	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC469T																					ENST00000258080.3:c.53G>A	p.Arg18Gln	p.R18Q	ENST00000258080	NM_013247.4	18	cGg/cAg	0	validated		probablydamaging	
HTRA2		inserm.fr	GRCh37	2	74757616	74757616	+	synonymous_variant	Silent	SNP	G	A	A			CHC1052T																					ENST00000258080.3:c.483G>A	p.Val161=	p.V161=	ENST00000258080	NM_013247.4	161	gtG/gtA	0	validated		synonymous	
LOXL3		inserm.fr	GRCh37	2	74763224	74763224	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000264094.3:c.1147C>T	p.Leu383Phe	p.L383F	ENST00000264094	NM_032603.2	383	Ctc/Ttc	0	not done		possiblydamaging	
ACSM4		inserm.fr	GRCh37	12	7476875	7476875	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1744T									Valid												ENST00000399422.4:c.1315C>A	p.Pro439Thr	p.P439T	ENST00000399422	NM_001080454.1	439	Cca/Aca	0	validated		probablydamaging	
ABCD4		inserm.fr	GRCh37	14	74769605	74769605	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2351T																					ENST00000356924.4:c.11C>T	p.Ala4Val	p.A4V	ENST00000356924	NM_005050.3	4	gCg/gTg	0	not done		benign	
P4HA1		inserm.fr	GRCh37	10	74776606	74776606	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000412021.2:c.1300C>T	p.Arg434Trp	p.R434W	ENST00000412021	NM_001142595.1	434	Cgg/Tgg	0	validated		probablydamaging	
DOK1		inserm.fr	GRCh37	2	74783761	74783761	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000233668.5:c.966G>A	p.Thr322=	p.T322=	ENST00000233668	NM_001381.3	322	acG/acA	0	not done		synonymous	
DOK1		inserm.fr	GRCh37	2	74784185	74784185	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC434T									Valid												ENST00000233668.5:c.1390G>A	p.Gly464Arg	p.G464R	ENST00000233668	NM_001381.3	464	Ggg/Agg	0	validated		possiblydamaging	
OR2AT4		inserm.fr	GRCh37	11	74799796	74799796	+	stop_lost	Nonstop_Mutation	SNP	T	A	A			CHC1052T																					ENST00000305159.3:c.963A>T	p.Ter321CysextTer?	p.*321Cext*?	ENST00000305159	NM_001005285.1	321	tgA/tgT	0	validated		damaging	
OR2AT4		inserm.fr	GRCh37	11	74800116	74800116	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000305159.3:c.643C>T	p.Pro215Ser	p.P215S	ENST00000305159	NM_001005285.1	215	Ccc/Tcc	0	not done		probablydamaging	
VRTN		inserm.fr	GRCh37	14	74823534	74823534	+	synonymous_variant	Silent	SNP	G	A	A			CHC469T																					ENST00000256362.4:c.48G>A	p.Gln16=	p.Q16=	ENST00000256362	NM_018228.2	16	caG/caA	0	validated		synonymous	
TNNI3K		inserm.fr	GRCh37	1	74835080	74835080	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370891.2:c.1781G>A	p.Arg594Gln	p.R594Q	ENST00000370891	NM_001112808.2	594	cGa/cAa	0	not done		probablydamaging	
GDA		inserm.fr	GRCh37	9	74860144	74860144	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1041T																					ENST00000238018.4:c.1216G>A	p.Asp406Asn	p.D406N	ENST00000238018		406	Gac/Aac	0	validated		benign	
MGAT5B		inserm.fr	GRCh37	17	74878256	74878256	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1746T																					ENST00000428789.2:c.238G>A	p.Gly80Ser	p.G80S	ENST00000428789	NM_198955.1	80	Ggc/Agc	0	not done		probablydamaging	
SEMA4F		inserm.fr	GRCh37	2	74907092	74907092	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2029T																					ENST00000357877.2:c.2069G>A	p.Arg690Lys	p.R690K	ENST00000357877	NM_004263.4	690	aGg/aAg	0	not done		benign	
WDR59		inserm.fr	GRCh37	16	74908150	74908150	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1192T																					ENST00000262144.6:c.2882C>T	p.Pro961Leu	p.P961L	ENST00000262144	NM_030581.3	961	cCc/cTc	0	not done		probablydamaging	
ECD		inserm.fr	GRCh37	10	74916044	74916044	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000430082.2:c.579G>T	p.Arg193Ser	p.R193S	ENST00000430082	NM_001135752.1	193	agG/agT	0	not done		possiblydamaging	
LY96		inserm.fr	GRCh37	8	74922362	74922362	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			BCM375T									Valid												ENST00000284818.2:c.329G>A	p.Gly110Glu	p.G110E	ENST00000284818	NM_015364.4	110	gGa/gAa	0	validated		probablydamaging	
MGAT5B		inserm.fr	GRCh37	17	74922721	74922721	+	synonymous_variant	Silent	SNP	G	A	A			CHC1763T																					ENST00000428789.2:c.1233G>A	p.Ala411=	p.A411=	ENST00000428789	NM_198955.1	411	gcG/gcA	0	not done		synonymous	
TPBGL		inserm.fr	GRCh37	11	74952430	74952430	+	synonymous_variant	Silent	SNP	C	A	A			CHC1192T																					ENST00000562197.2:c.336C>A	p.Gly112=	p.G112=	ENST00000562197	NM_001195528.1	112	ggC/ggA	0	validated		synonymous	
GALR1		inserm.fr	GRCh37	18	74962818	74962818	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM683T																					ENST00000299727.3:c.314C>A	p.Ala105Asp	p.A105D	ENST00000299727	NM_001480.3	105	gCc/gAc	0	validated		possiblydamaging	
LTBP2		inserm.fr	GRCh37	14	74969959	74969959	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM783T																					ENST00000261978.4:c.4851G>T	p.Trp1617Cys	p.W1617C	ENST00000261978	NM_000428.2	1617	tgG/tgT	0	validated		probablydamaging	
LOC100288208		inserm.fr	GRCh37	13	74988739	74988739	+	synonymous_variant	Silent	SNP	G	A	A			CHC1629T																					ENST00000325811.1:c.378C>T	p.Arg126=	p.R126=	ENST00000325811		126	cgC/cgT	0	not done		synonymous	
MAGEE2		inserm.fr	GRCh37	X	75004556	75004556	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373359.2:c.331C>T	p.Gln111Ter	p.Q111*	ENST00000373359	NM_138703.4	111	Cag/Tag	0	not done		damaging	
LMAN1L		inserm.fr	GRCh37	15	75105338	75105338	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000309664.5:c.143G>A	p.Gly48Glu	p.G48E	ENST00000309664	NM_021819.2	48	gGg/gAg	0	not done		probablydamaging	
LMAN1L		inserm.fr	GRCh37	15	75108997	75108997	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2098T																					ENST00000309664.5:c.463G>A	p.Ala155Thr	p.A155T	ENST00000309664	NM_021819.2	155	Gcc/Acc	0	not done		probablydamaging	
ARHGEF18		inserm.fr	GRCh37	19	7511945	7511945	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359920.6:c.1064G>A	p.Gly355Glu	p.G355E	ENST00000359920	NM_001130955.1	355	gGg/gAg	0	not done		possiblydamaging	
ZNRF1		inserm.fr	GRCh37	16	75127482	75127482	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC437T																					ENST00000335325.4:c.437C>A	p.Pro146His	p.P146H	ENST00000335325	NM_032268.4	146	cCc/cAc	0	not done		probablydamaging	
ZFP1		inserm.fr	GRCh37	16	75203738	75203738	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000393430.2:c.730G>A	p.Glu244Lys	p.E244K	ENST00000393430		244	Gaa/Aaa	0	not done		probablydamaging	
RPP25		inserm.fr	GRCh37	15	75248826	75248826	+	synonymous_variant	Silent	SNP	C	A	A			CHC614T																					ENST00000322177.5:c.99G>T	p.Pro33=	p.P33=	ENST00000322177	NM_017793.2	33	ccG/ccT	0	validated		synonymous	
YLPM1		inserm.fr	GRCh37	14	75264396	75264396	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000325680.7:c.2396G>A	p.Gly799Asp	p.G799D	ENST00000325680	NM_019589.2	799	gGt/gAt	0	not done		benign	
YLPM1		inserm.fr	GRCh37	14	75265366	75265366	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000325680.7:c.3366G>A	p.Arg1122=	p.R1122=	ENST00000325680	NM_019589.2	1122	agG/agA	0	not done		synonymous	
TACR1		inserm.fr	GRCh37	2	75276607	75276607	+	synonymous_variant	Silent	SNP	G	A	A			BCM325T																					ENST00000305249.5:c.1176C>T	p.Ser392=	p.S392=	ENST00000305249	NM_001058.3	392	tcC/tcT	0	validated		synonymous	
MAP6		inserm.fr	GRCh37	11	75298774	75298774	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1079T																					ENST00000304771.3:c.1772C>T	p.Ser591Phe	p.S591F	ENST00000304771	NM_033063.1	591	tCt/tTt	0	not done		benign	
SHBG		inserm.fr	GRCh37	17	7536639	7536639	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC303T																					ENST00000380450.4:c.1178G>A	p.Ser393Asn	p.S393N	ENST00000380450	NM_001040.3	393	aGc/aAc	0	validated		benign	
RPS6KL1		inserm.fr	GRCh37	14	75386580	75386580	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2112T																					ENST00000555647.1:c.358C>T	p.Arg120Trp	p.R120W	ENST00000555647		120	Cgg/Tgg	0	not done		probablydamaging	
SYNPO2L		inserm.fr	GRCh37	10	75407623	75407623	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM531T																					ENST00000394810.2:c.1787C>T	p.Ala596Val	p.A596V	ENST00000394810	NM_001114133.1	596	gCg/gTg	0	validated		benign	
CCL24		inserm.fr	GRCh37	7	75441283	75441283	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC1751T																					ENST00000416943.1:c.192-1G>T		p.X64_splice	ENST00000416943	NM_002991.2			0	not done		damaging	
CCL24		inserm.fr	GRCh37	7	75441284	75441284	+	splice_acceptor_variant	Splice_Site	SNP	T	A	A			CHC1751T																					ENST00000416943.1:c.192-2A>T		p.X64_splice	ENST00000416943	NM_002991.2			0	not done		damaging	
KCNC2		inserm.fr	GRCh37	12	75442038	75442038	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000549446.1:c.1675C>T	p.Pro559Ser	p.P559S	ENST00000549446	NM_001260497.1	559	Ccc/Tcc	0	not done		benign	
CFDP1		inserm.fr	GRCh37	16	75445738	75445738	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000283882.3:c.515C>T	p.Ala172Val	p.A172V	ENST00000283882	NM_006324.2	172	gCt/gTt	0	not done		probablydamaging	
COL28A1		inserm.fr	GRCh37	7	7546774	7546774	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC798T									Valid												ENST00000399429.3:c.946G>T	p.Gly316Ter	p.G316*	ENST00000399429	NM_001037763.2	316	Gga/Tga	0	validated		damaging	
C15orf39		inserm.fr	GRCh37	15	75500037	75500037	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000360639.2:c.1648G>A	p.Gly550Arg	p.G550R	ENST00000360639		550	Ggg/Agg	0	not done		benign	
SV2C		inserm.fr	GRCh37	5	75505705	75505705	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000502798.2:c.906G>A	p.Pro302=	p.P302=	ENST00000502798	NM_014979.1	302	ccG/ccA	0	validated		synonymous	
CHST6		inserm.fr	GRCh37	16	75512719	75512719	+	synonymous_variant	Silent	SNP	C	A	A			CHC2048T																					ENST00000332272.4:c.1008G>T	p.Ala336=	p.A336=	ENST00000332272	NM_021615.4	336	gcG/gcT	0	not done		synonymous	
CHST6		inserm.fr	GRCh37	16	75512888	75512888	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000332272.4:c.839C>T	p.Pro280Leu	p.P280L	ENST00000332272	NM_021615.4	280	cCg/cTg	0	not done		probablydamaging	
SEC24C		inserm.fr	GRCh37	10	75528603	75528603	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000339365.2:c.2217G>A	p.Leu739=	p.L739=	ENST00000339365	NM_004922.3	739	ctG/ctA	0	not done		synonymous	
KCNC2		inserm.fr	GRCh37	12	75601695	75601695	+	synonymous_variant	Silent	SNP	G	A	A			CHC1154T																					ENST00000549446.1:c.69C>T	p.Arg23=	p.R23=	ENST00000549446	NM_001260497.1	23	cgC/cgT	0	not done		synonymous	
LHX8		inserm.fr	GRCh37	1	75602925	75602925	+	synonymous_variant	Silent	SNP	C	A	A			CHC879T																					ENST00000294638.5:c.246C>A	p.Ile82=	p.I82=	ENST00000294638	NM_001001933.1	82	atC/atA	0	not done		synonymous	
ADAT1		inserm.fr	GRCh37	16	75642761	75642761	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1746T																					ENST00000307921.3:c.1169G>T	p.Arg390Leu	p.R390L	ENST00000307921	NM_012091.3	390	cGa/cTa	0	not done		possiblydamaging	
MAGEE1		inserm.fr	GRCh37	X	75649103	75649103	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000361470.2:c.780G>A	p.Val260=	p.V260=	ENST00000361470	NM_020932.2	260	gtG/gtA	0	not done		synonymous	
MAGEE1		inserm.fr	GRCh37	X	75649205	75649205	+	synonymous_variant	Silent	SNP	C	A	A			CHC155T																					ENST00000361470.2:c.882C>A	p.Thr294=	p.T294=	ENST00000361470	NM_020932.2	294	acC/acA	0	validated		synonymous	
MAGEE1		inserm.fr	GRCh37	X	75650580	75650580	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000361470.2:c.2257G>A	p.Val753Met	p.V753M	ENST00000361470	NM_020932.2	753	Gtg/Atg	0	not done		probablydamaging	
MAN2C1		inserm.fr	GRCh37	15	75651692	75651692	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1148T									Valid												ENST00000565683.1:c.2036C>T	p.Ala679Val	p.A679V	ENST00000565683	NM_001256494.1	679	gCa/gTa	0	validated		damaging	
MAN2C1		inserm.fr	GRCh37	15	75651693	75651693	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1148T									Valid												ENST00000565683.1:c.2035G>T	p.Ala679Ser	p.A679S	ENST00000565683	NM_001256494.1	679	Gca/Tca	0	validated		probablydamaging	
MAN2C1		inserm.fr	GRCh37	15	75653493	75653493	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1725T																					ENST00000565683.1:c.1354G>T	p.Ala452Ser	p.A452S	ENST00000565683	NM_001256494.1	452	Gcc/Tcc	0	not done		benign	
KARS		inserm.fr	GRCh37	16	75664403	75664403	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1152T																					ENST00000319410.5:c.1426G>T	p.Val476Phe	p.V476F	ENST00000319410	NM_001130089.1	476	Gtt/Ttt	0	validated		benign	
SIN3A		inserm.fr	GRCh37	15	75664529	75664529	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2098T																					ENST00000394947.3:c.3613C>T	p.Arg1205Cys	p.R1205C	ENST00000394947	NM_001145358.1	1205	Cgt/Tgt	0	not done		probablydamaging	
C10orf55		inserm.fr	GRCh37	10	75671730	75671730	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000409178.1:c.169C>T	p.Leu57=	p.L57=	ENST00000409178	NM_001001791.2	57	Ctg/Ttg	0	not done		synonymous	
PLAU		inserm.fr	GRCh37	10	75672831	75672831	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000372764.3:c.343G>A	p.Gly115Ser	p.G115S	ENST00000372764	NM_002658.3	115	Ggc/Agc	0	not done		possiblydamaging	
BTC		inserm.fr	GRCh37	4	75675907	75675907	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM275T									Valid												ENST00000395743.3:c.304G>T	p.Ala102Ser	p.A102S	ENST00000395743	NM_001729.2	102	Gca/Tca	0	validated		possiblydamaging	
EVA1A		inserm.fr	GRCh37	2	75720566	75720566	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1714T																					ENST00000233712.1:c.255G>T	p.Glu85Asp	p.E85D	ENST00000233712	NM_032181.2	85	gaG/gaT	0	not done		benign	
TP53		inserm.fr	GRCh37	17	7573982	7573982	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1747T									Valid												ENST00000269305.4:c.1045G>T	p.Glu349Ter	p.E349*	ENST00000269305	NM_001126112.2	349	Gaa/Taa	0	not done		damaging	
TP53		inserm.fr	GRCh37	17	7573982	7573982	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC793T									Valid												ENST00000269305.4:c.1045G>T	p.Glu349Ter	p.E349*	ENST00000269305	NM_001126112.2	349	Gaa/Taa	0	validated		damaging	
TP53		inserm.fr	GRCh37	17	7574017	7574017	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1061T									Valid												ENST00000269305.4:c.1010G>T	p.Arg337Leu	p.R337L	ENST00000269305	NM_001126112.2	337	cGc/cTc	0	validated		probablydamaging	
PI15		inserm.fr	GRCh37	8	75757625	75757625	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1742T																					ENST00000260113.2:c.534G>A	p.Trp178Ter	p.W178*	ENST00000260113	NM_015886.3	178	tgG/tgA	0	not done		damaging	
TP53		inserm.fr	GRCh37	17	7576855	7576855	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	A	A			BCB231T									Valid												ENST00000269305.4:c.991C>T	p.Gln331Ter	p.Q331*	ENST00000269305	NM_001126112.2	331	Cag/Tag	0	validated		damaging	
TP53		inserm.fr	GRCh37	17	7577058	7577058	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000269305.4:c.880G>T	p.Glu294Ter	p.E294*	ENST00000269305	NM_001126112.2	294	Gag/Tag	0	validated		damaging	
TP53		inserm.fr	GRCh37	17	7577079	7577079	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM269T									Valid												ENST00000269305.4:c.859G>T	p.Glu287Ter	p.E287*	ENST00000269305	NM_001126112.2	287	Gag/Tag	0	validated		damaging	
TP53		inserm.fr	GRCh37	17	7577094	7577094	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM423T																					ENST00000269305.4:c.844C>T	p.Arg282Trp	p.R282W	ENST00000269305	NM_001126112.2	282	Cgg/Tgg	0	validated		probablydamaging	
TP53		inserm.fr	GRCh37	17	7577100	7577100	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1534T									Valid												ENST00000269305.4:c.838A>T	p.Arg280Ter	p.R280*	ENST00000269305	NM_001126112.2	280	Aga/Tga	0	validated		damaging	
TP53		inserm.fr	GRCh37	17	7577106	7577106	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1756T									Valid												ENST00000269305.4:c.832C>T	p.Pro278Ser	p.P278S	ENST00000269305	NM_001126112.2	278	Cct/Tct	0	not done		probablydamaging	
TP53		inserm.fr	GRCh37	17	7577111	7577111	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1756T									Valid												ENST00000269305.4:c.827C>T	p.Ala276Val	p.A276V	ENST00000269305	NM_001126112.2	276	gCc/gTc	0	not done		probablydamaging	
TP53		inserm.fr	GRCh37	17	7577138	7577138	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1602T									Valid												ENST00000269305.4:c.800G>T	p.Arg267Leu	p.R267L	ENST00000269305	NM_001126112.2	267	cGg/cTg	0	not done		probablydamaging	
TP53		inserm.fr	GRCh37	17	7577141	7577141	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM375T									Valid												ENST00000269305.4:c.797G>T	p.Gly266Val	p.G266V	ENST00000269305	NM_001126112.2	266	gGa/gTa	0	validated		probablydamaging	
TP53		inserm.fr	GRCh37	17	7577142	7577142	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1742T									Valid												ENST00000269305.4:c.796G>T	p.Gly266Ter	p.G266*	ENST00000269305	NM_001126112.2	266	Gga/Tga	0	not done		damaging	
ANXA1		inserm.fr	GRCh37	9	75773704	75773704	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000376911.1:c.160G>A	p.Ala54Thr	p.A54T	ENST00000376911		54	Gcc/Acc	0	not done		probablydamaging	
TP53		inserm.fr	GRCh37	17	7577534	7577534	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1079T									Valid												ENST00000269305.4:c.747G>T	p.Arg249Ser	p.R249S	ENST00000269305	NM_001126112.2	249	agG/agT	0	not done		probablydamaging	
TP53		inserm.fr	GRCh37	17	7577534	7577534	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T									Valid												ENST00000269305.4:c.747G>T	p.Arg249Ser	p.R249S	ENST00000269305	NM_001126112.2	249	agG/agT	0	not done		probablydamaging	
TP53		inserm.fr	GRCh37	17	7577534	7577534	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T									Valid												ENST00000269305.4:c.747G>T	p.Arg249Ser	p.R249S	ENST00000269305	NM_001126112.2	249	agG/agT	0	not done		probablydamaging	
TP53		inserm.fr	GRCh37	17	7577534	7577534	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T									Valid												ENST00000269305.4:c.747G>T	p.Arg249Ser	p.R249S	ENST00000269305	NM_001126112.2	249	agG/agT	0	not done		probablydamaging	
TP53		inserm.fr	GRCh37	17	7577538	7577538	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2200T									Valid												ENST00000269305.4:c.743G>T	p.Arg248Leu	p.R248L	ENST00000269305	NM_001126112.2	248	cGg/cTg	0	not done		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578176	7578176	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC1746T									Valid												ENST00000269305.4:c.672+1G>T		p.X224_splice	ENST00000269305	NM_001126112.2			0	not done		damaging	
TP53		inserm.fr	GRCh37	17	7578253	7578253	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM617T																					ENST00000269305.4:c.596G>T	p.Gly199Val	p.G199V	ENST00000269305	NM_001126112.2	199	gGa/gTa	0	validated		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578271	7578271	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1568T																					ENST00000269305.4:c.578A>T	p.His193Leu	p.H193L	ENST00000269305	NM_001126112.2	193	cAt/cTt	0	validated		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578395	7578395	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC314T									Valid												ENST00000269305.4:c.535C>T	p.His179Tyr	p.H179Y	ENST00000269305	NM_001126112.2	179	Cat/Tat	0	validated		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578403	7578403	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1603T																					ENST00000269305.4:c.527G>T	p.Cys176Phe	p.C176F	ENST00000269305	NM_001126112.2	176	tGc/tTc	0	validated		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578406	7578406	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM423T									Valid												ENST00000269305.4:c.524G>T	p.Arg175Leu	p.R175L	ENST00000269305	NM_001126112.2	175	cGc/cTc	0	validated		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578416	7578416	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1739T									Valid												ENST00000269305.4:c.514G>T	p.Val172Phe	p.V172F	ENST00000269305	NM_001126112.2	172	Gtt/Ttt	0	not done		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578454	7578454	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1708T																					ENST00000269305.4:c.476C>T	p.Ala159Val	p.A159V	ENST00000269305	NM_001126112.2	159	gCc/gTc	0	validated		possiblydamaging	
TP53		inserm.fr	GRCh37	17	7578461	7578461	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB301T									Valid												ENST00000269305.4:c.469G>T	p.Val157Phe	p.V157F	ENST00000269305	NM_001126112.2	157	Gtc/Ttc	0	validated		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578517	7578517	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM689T									Valid												ENST00000269305.4:c.413C>T	p.Ala138Val	p.A138V	ENST00000269305	NM_001126112.2	138	gCc/gTc	0	validated		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578550	7578550	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1736T									Valid												ENST00000269305.4:c.380C>T	p.Ser127Phe	p.S127F	ENST00000269305	NM_001126112.2	127	tCc/tTc	0	not done		probablydamaging	
ZNF717		inserm.fr	GRCh37	3	75786822	75786822	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1603T																					ENST00000422325.1:c.1952A>T	p.Glu651Val	p.E651V	ENST00000422325	NM_001128223.1	651	gAa/gTa	0	not done		benign	
TP53		inserm.fr	GRCh37	17	7579586	7579586	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1210T									Valid												ENST00000269305.4:c.101C>T	p.Pro34Leu	p.P34L	ENST00000269305	NM_001126112.2	34	cCc/cTc	0	validated		damaging	
TP53		inserm.fr	GRCh37	17	7579589	7579589	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			BCM321T									Valid												ENST00000269305.4:c.98C>T	p.Ser33Phe	p.S33F	ENST00000269305	NM_001126112.2	33	tCc/tTc	0	validated		damaging	
COL12A1		inserm.fr	GRCh37	6	75827230	75827230	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC121T									Valid												ENST00000322507.8:c.7387G>T	p.Val2463Phe	p.V2463F	ENST00000322507	NM_004370.5	2463	Gtc/Ttc	0	validated		probablydamaging	
DSP		inserm.fr	GRCh37	6	7583502	7583502	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000379802.3:c.6007G>A	p.Glu2003Lys	p.E2003K	ENST00000379802	NM_004415.2	2003	Gaa/Aaa	0	not done		probablydamaging	
COL12A1		inserm.fr	GRCh37	6	75839914	75839914	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1191T																					ENST00000322507.8:c.6103G>T	p.Gly2035Cys	p.G2035C	ENST00000322507	NM_004370.5	2035	Ggt/Tgt	0	not done		probablydamaging	
COL12A1		inserm.fr	GRCh37	6	75855920	75855920	+	synonymous_variant	Silent	SNP	G	A	A			CHC1704T																					ENST00000322507.8:c.4458C>T	p.Gly1486=	p.G1486=	ENST00000322507	NM_004370.5	1486	ggC/ggT	0	not done		synonymous	
COL12A1		inserm.fr	GRCh37	6	75861966	75861966	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1717T																					ENST00000322507.8:c.3716C>T	p.Ala1239Val	p.A1239V	ENST00000322507	NM_004370.5	1239	gCt/gTt	0	not done		possiblydamaging	
COL12A1		inserm.fr	GRCh37	6	75875245	75875245	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2352T																					ENST00000322507.8:c.2961G>T	p.Leu987Phe	p.L987F	ENST00000322507	NM_004370.5	987	ttG/ttT	0	not done		possiblydamaging	
PCGF3		inserm.fr	GRCh37	4	758790	758790	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM399T									Valid												ENST00000362003.5:c.619G>A	p.Glu207Lys	p.E207K	ENST00000362003	NM_006315.4	207	Gag/Aag	0	validated		possiblydamaging	
SNUPN		inserm.fr	GRCh37	15	75890730	75890730	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC614T																					ENST00000564644.1:c.1052C>T	p.Pro351Leu	p.P351L	ENST00000564644		351	cCa/cTa	0	validated		benign	
IQGAP2		inserm.fr	GRCh37	5	75902125	75902125	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1061T																					ENST00000274364.6:c.1354G>A	p.Asp452Asn	p.D452N	ENST00000274364	NM_006633.2	452	Gac/Aac	0	validated		benign	
KRR1		inserm.fr	GRCh37	12	75905317	75905317	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC306T									Valid												ENST00000229214.4:c.61C>T	p.Gln21Ter	p.Q21*	ENST00000229214	NM_007043.6	21	Cag/Tag	0	validated		damaging	
SNRNP48		inserm.fr	GRCh37	6	7590578	7590578	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000342415.5:c.88G>A	p.Glu30Lys	p.E30K	ENST00000342415	NM_152551.3	30	Gag/Aag	0	not done		benign	
IQGAP2		inserm.fr	GRCh37	5	75936878	75936878	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM711T																					ENST00000274364.6:c.2044G>A	p.Ala682Thr	p.A682T	ENST00000274364	NM_006633.2	682	Gct/Act	0	validated		benign	
PARM1		inserm.fr	GRCh37	4	75937783	75937783	+	synonymous_variant	Silent	SNP	G	A	A			CHC736T																					ENST00000307428.7:c.192G>A	p.Ser64=	p.S64=	ENST00000307428	NM_015393.3	64	tcG/tcA	0	validated		synonymous	
CSPG4		inserm.fr	GRCh37	15	75968604	75968604	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000308508.5:c.6256C>T	p.Leu2086=	p.L2086=	ENST00000308508	NM_001897.4	2086	Ctg/Ttg	0	not done		synonymous	
CSPG4		inserm.fr	GRCh37	15	75970125	75970125	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC121T									Valid												ENST00000308508.5:c.5053G>T	p.Asp1685Tyr	p.D1685Y	ENST00000308508	NM_001897.4	1685	Gac/Tac	0	validated		probablydamaging	
CSPG4		inserm.fr	GRCh37	15	75974761	75974761	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM543T																					ENST00000308508.5:c.4823G>T	p.Ser1608Ile	p.S1608I	ENST00000308508	NM_001897.4	1608	aGc/aTc	0	validated		benign	
CSPG4		inserm.fr	GRCh37	15	75981993	75981993	+	synonymous_variant	Silent	SNP	G	A	A			CHC451T																					ENST00000308508.5:c.1413C>T	p.Ser471=	p.S471=	ENST00000308508	NM_001897.4	471	agC/agT	0	not done		synonymous	
CSPG4		inserm.fr	GRCh37	15	75982186	75982186	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC805T																					ENST00000308508.5:c.1220C>T	p.Pro407Leu	p.P407L	ENST00000308508	NM_001897.4	407	cCa/cTa	0	validated		probablydamaging	
IQGAP2		inserm.fr	GRCh37	5	75996950	75996950	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000274364.6:c.4417G>A	p.Ala1473Thr	p.A1473T	ENST00000274364	NM_006633.2	1473	Gcg/Acg	0	not done		benign	
F2R		inserm.fr	GRCh37	5	76029125	76029125	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1745T																					ENST00000319211.4:c.1075G>A	p.Val359Ile	p.V359I	ENST00000319211	NM_001992.3	359	Gtc/Atc	0	not done		benign	
WRAP53		inserm.fr	GRCh37	17	7605743	7605743	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000316024.5:c.1037G>A	p.Gly346Asp	p.G346D	ENST00000316024		346	gGc/gAc	0	not done		benign	
TNRC6C		inserm.fr	GRCh37	17	76071326	76071326	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000335749.4:c.3018G>A	p.Glu1006=	p.E1006=	ENST00000335749	NM_001142640.1	1006	gaG/gaA	0	not done		synonymous	
PNPLA6		inserm.fr	GRCh37	19	7607495	7607495	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB109T																					ENST00000414982.3:c.1328G>A	p.Gly443Asp	p.G443D	ENST00000414982	NM_001166111.1	443	gGc/gAc	0	validated		benign	
TNRC6C-AS1		inserm.fr	GRCh37	17	76105647	76105647	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000589217.1:n.2234C>T		*745*	ENST00000589217				0	not done		synonymous	
TMC6		inserm.fr	GRCh37	17	76113713	76113713	+	synonymous_variant	Silent	SNP	C	A	A			CHC1053T																					ENST00000590602.1:c.2034G>T	p.Ser678=	p.S678=	ENST00000590602		678	tcG/tcT	0	validated		synonymous	
TMC6		inserm.fr	GRCh37	17	76120773	76120773	+	synonymous_variant	Silent	SNP	G	A	A			CHC253T																					ENST00000590602.1:c.723C>T	p.Phe241=	p.F241=	ENST00000590602		241	ttC/ttT	0	validated		synonymous	
F2RL1		inserm.fr	GRCh37	5	76129278	76129278	+	synonymous_variant	Silent	SNP	G	A	A			CHC1747T																					ENST00000296677.4:c.846G>A	p.Arg282=	p.R282=	ENST00000296677	NM_005242.4	282	agG/agA	0	not done		synonymous	
TMC8		inserm.fr	GRCh37	17	76130560	76130560	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1756T																					ENST00000318430.5:c.902G>A	p.Arg301Gln	p.R301Q	ENST00000318430	NM_152468.4	301	cGg/cAg	0	not done		probablydamaging	
TTLL5		inserm.fr	GRCh37	14	76135794	76135794	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000298832.9:c.110G>A	p.Arg37Lys	p.R37K	ENST00000298832	NM_015072.4	37	aGg/aAg	0	not done		benign	
MIOS		inserm.fr	GRCh37	7	7613754	7613754	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM265T																					ENST00000340080.4:c.1320G>A	p.Met440Ile	p.M440I	ENST00000340080	NM_019005.3	440	atG/atA	0	validated		benign	
C17orf99		inserm.fr	GRCh37	17	76162116	76162116	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000340363.5:c.787G>A	p.Ala263Thr	p.A263T	ENST00000340363	NM_001163075.1	263	Gca/Aca	0	not done		possiblydamaging	
ITIH5		inserm.fr	GRCh37	10	7618584	7618584	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1079T																					ENST00000256861.6:c.1810C>T	p.Arg604Trp	p.R604W	ENST00000256861	NM_030569.6	604	Cgg/Tgg	0	not done		probablydamaging	
ITIH5		inserm.fr	GRCh37	10	7618600	7618600	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC805T																					ENST00000256861.6:c.1794G>T	p.Lys598Asn	p.K598N	ENST00000256861	NM_030569.6	598	aaG/aaT	0	not done		possiblydamaging	
ACADM		inserm.fr	GRCh37	1	76198384	76198384	+	synonymous_variant	Silent	SNP	G	A	A			CHC1743T																					ENST00000420607.2:c.186G>A	p.Glu62=	p.E62=	ENST00000420607		62	gaG/gaA	0	not done		synonymous	
GRM7		inserm.fr	GRCh37	3	7620226	7620226	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2103T																					ENST00000357716.4:c.1633T>A	p.Cys545Ser	p.C545S	ENST00000357716	NM_000844.3	545	Tgt/Agt	0	not done		probablydamaging	
TTLL5		inserm.fr	GRCh37	14	76259263	76259263	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000298832.9:c.2991G>A	p.Ser997=	p.S997=	ENST00000298832	NM_015072.4	997	tcG/tcA	0	validated		synonymous	
PNPLA6		inserm.fr	GRCh37	19	7626204	7626204	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000414982.3:c.4053+1G>A		p.X1351_splice	ENST00000414982	NM_001166111.1			0	not done		damaging	
LRRC32		inserm.fr	GRCh37	11	76371646	76371646	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000407242.2:c.991C>T	p.Pro331Ser	p.P331S	ENST00000407242	NM_005512.2	331	Ccc/Tcc	0	not done		probablydamaging	
SENP6		inserm.fr	GRCh37	6	76372942	76372942	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000447266.2:c.702G>A	p.Leu234=	p.L234=	ENST00000447266	NM_015571.2	234	ttG/ttA	0	not done		synonymous	
TALDO1		inserm.fr	GRCh37	11	764301	764301	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM371T																					ENST00000319006.3:c.849C>A	p.Asp283Glu	p.D283E	ENST00000319006		283	gaC/gaA	0	validated		benign	
TGFB3		inserm.fr	GRCh37	14	76447129	76447129	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1602T																					ENST00000238682.3:c.108G>T	p.Lys36Asn	p.K36N	ENST00000238682	NM_003239.2	36	aaG/aaT	0	not done		possiblydamaging	
C13orf45		inserm.fr	GRCh37	13	76448108	76448108	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000318245.4:c.316G>A	p.Ala106Thr	p.A106T	ENST00000318245	NM_001257995.1	106	Gct/Act	0	not done		damaging	
DNAH17		inserm.fr	GRCh37	17	76451774	76451774	+	synonymous_variant	Silent	SNP	C	A	A			CHC879T																					ENST00000389840.5:c.10080G>T	p.Arg3360=	p.R3360=	ENST00000389840		3360	cgG/cgT	0	not done		synonymous	
HNF4G		inserm.fr	GRCh37	8	76452237	76452237	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000396423.2:c.10G>A	p.Ala4Thr	p.A4T	ENST00000396423	NM_004133.4	4	Gca/Aca	0	validated		benign	
MIOS		inserm.fr	GRCh37	7	7645613	7645613	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1592T																					ENST00000340080.4:c.2442C>A	p.Asp814Glu	p.D814E	ENST00000340080	NM_019005.3	814	gaC/gaA	0	not done		benign	
C15orf27		inserm.fr	GRCh37	15	76467993	76467993	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000388942.3:c.746C>A	p.Thr249Lys	p.T249K	ENST00000388942	NM_152335.2	249	aCg/aAg	0	not done		probablydamaging	
HNF4G		inserm.fr	GRCh37	8	76472616	76472616	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000396423.2:c.1131G>A	p.Met377Ile	p.M377I	ENST00000396423	NM_004133.4	377	atG/atA	0	not done		benign	
HNF4G		inserm.fr	GRCh37	8	76476246	76476246	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000396423.2:c.1253G>A	p.Gly418Asp	p.G418D	ENST00000396423	NM_004133.4	418	gGc/gAc	0	not done		possiblydamaging	
CD163		inserm.fr	GRCh37	12	7647860	7647860	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359156.4:c.1237C>T	p.Gln413Ter	p.Q413*	ENST00000359156	NM_004244.5	413	Cag/Tag	0	not done		damaging	
DNAH17		inserm.fr	GRCh37	17	76502840	76502840	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000389840.5:c.4753C>T	p.Leu1585Phe	p.L1585F	ENST00000389840		1585	Ctc/Ttc	0	not done			
DNAH17		inserm.fr	GRCh37	17	76503640	76503640	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1741T																					ENST00000389840.5:c.4472C>T	p.Thr1491Ile	p.T1491I	ENST00000389840		1491	aCc/aTc	0	not done			
DNAH17		inserm.fr	GRCh37	17	76565497	76565497	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1747T																					ENST00000389840.5:c.1157C>T	p.Thr386Met	p.T386M	ENST00000389840		386	aCg/aTg	0	not done			
DNAH17		inserm.fr	GRCh37	17	76568835	76568835	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000389840.5:c.487C>T	p.Pro163Ser	p.P163S	ENST00000389840		163	Cct/Tct	0	not done			
DNAH17		inserm.fr	GRCh37	17	76570859	76570859	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000389840.5:c.281C>T	p.Ala94Val	p.A94V	ENST00000389840		94	gCc/gTc	0	not done			
MYO6		inserm.fr	GRCh37	6	76583017	76583017	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC703T																					ENST00000369977.3:c.2077G>A	p.Gly693Arg	p.G693R	ENST00000369977	NM_004999.3	693	Ggg/Agg	0	validated		probablydamaging	
DNAH2		inserm.fr	GRCh37	17	7660536	7660536	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC320T									Valid												ENST00000572933.1:c.2032G>A	p.Val678Ile	p.V678I	ENST00000572933		678	Gtt/Att	0	validated		probablydamaging	
MYO6		inserm.fr	GRCh37	6	76608100	76608100	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369977.3:c.3148G>A	p.Ala1050Thr	p.A1050T	ENST00000369977	NM_004999.3	1050	Gcc/Acc	0	not done		benign	
PDE8B		inserm.fr	GRCh37	5	76621414	76621414	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000264917.5:c.450G>A	p.Trp150Ter	p.W150*	ENST00000264917	NM_003719.3	150	tgG/tgA	0	not done		damaging	
MYO6		inserm.fr	GRCh37	6	76623832	76623832	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2103T																					ENST00000369977.3:c.3492G>A	p.Met1164Ile	p.M1164I	ENST00000369977	NM_004999.3	1164	atG/atA	0	not done		probablydamaging	
ISL2		inserm.fr	GRCh37	15	76634129	76634129	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC218T																					ENST00000290759.4:c.1033C>A	p.Leu345Ile	p.L345I	ENST00000290759	NM_145805.1	345	Ctc/Atc	0	validated		probablydamaging	
CAMSAP3		inserm.fr	GRCh37	19	7670331	7670331	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM617T																					ENST00000446248.2:c.368G>A	p.Arg123His	p.R123H	ENST00000446248	NM_001080429.2	123	cGc/cAc	0	validated		probablydamaging	
IMPG1		inserm.fr	GRCh37	6	76712676	76712676	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369950.3:c.1250C>T	p.Pro417Leu	p.P417L	ENST00000369950	NM_001563.2	417	cCc/cTc	0	not done		possiblydamaging	
DNAH2		inserm.fr	GRCh37	17	7671351	7671351	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T									Valid												ENST00000572933.1:c.3809G>A	p.Arg1270His	p.R1270H	ENST00000572933		1270	cGc/cAc	0	validated		probablydamaging	
IMPG1		inserm.fr	GRCh37	6	76713638	76713638	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1775T																					ENST00000369950.3:c.1165C>T	p.Pro389Ser	p.P389S	ENST00000369950	NM_001563.2	389	Cct/Tct	0	validated		possiblydamaging	
IMPG1		inserm.fr	GRCh37	6	76715136	76715136	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC465T																					ENST00000369950.3:c.1003G>T	p.Val335Phe	p.V335F	ENST00000369950	NM_001563.2	335	Gtc/Ttc	0	validated		benign	
PPFIBP2		inserm.fr	GRCh37	11	7672919	7672919	+	synonymous_variant	Silent	SNP	G	A	A			CHC429T																					ENST00000299492.4:c.2280G>A	p.Leu760=	p.L760=	ENST00000299492	NM_003621.3	760	ctG/ctA	0	validated		synonymous	
PPFIBP2		inserm.fr	GRCh37	11	7672968	7672968	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM723T																					ENST00000299492.4:c.2329C>A	p.Leu777Met	p.L777M	ENST00000299492	NM_003621.3	777	Ctg/Atg	0	validated		probablydamaging	
DNAH2		inserm.fr	GRCh37	17	7674661	7674661	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1715T																					ENST00000572933.1:c.4376G>A	p.Gly1459Glu	p.G1459E	ENST00000572933		1459	gGa/gAa	0	not done		probablydamaging	
IMPG1		inserm.fr	GRCh37	6	76751720	76751720	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2103T																					ENST00000369950.3:c.191C>T	p.Ala64Val	p.A64V	ENST00000369950	NM_001563.2	64	gCa/gTa	0	not done		possiblydamaging	
SALL3		inserm.fr	GRCh37	18	76752622	76752622	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM371T																					ENST00000537592.2:c.631G>A	p.Ala211Thr	p.A211T	ENST00000537592	NM_171999.3	211	Gcc/Acc	0	validated		benign	
SALL3		inserm.fr	GRCh37	18	76754205	76754205	+	synonymous_variant	Silent	SNP	G	A	A			CHC1598T																					ENST00000537592.2:c.2214G>A	p.Gln738=	p.Q738=	ENST00000537592	NM_171999.3	738	caG/caA	0	not done		synonymous	
SALL3		inserm.fr	GRCh37	18	76754851	76754851	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000537592.2:c.2860G>A	p.Ala954Thr	p.A954T	ENST00000537592	NM_171999.3	954	Gcg/Acg	0	not done		possiblydamaging	
SALL3		inserm.fr	GRCh37	18	76755024	76755024	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000537592.2:c.3033G>A	p.Arg1011=	p.R1011=	ENST00000537592	NM_171999.3	1011	agG/agA	0	not done		synonymous	
SALL3		inserm.fr	GRCh37	18	76755309	76755309	+	synonymous_variant	Silent	SNP	G	A	A			CHC2034T																					ENST00000537592.2:c.3318G>A	p.Pro1106=	p.P1106=	ENST00000537592	NM_171999.3	1106	ccG/ccA	0	not done		synonymous	
OSBPL8		inserm.fr	GRCh37	12	76786433	76786433	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1531T																					ENST00000261183.3:c.857C>T	p.Ser286Leu	p.S286L	ENST00000261183	NM_020841.4	286	tCa/tTa	0	not done		benign	
KAT6B		inserm.fr	GRCh37	10	76790412	76790412	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2211T																					ENST00000287239.4:c.5830T>A	p.Tyr1944Asn	p.Y1944N	ENST00000287239	NM_001256468.1	1944	Tat/Aat	0	not done		probablydamaging	
DNAH2		inserm.fr	GRCh37	17	7681645	7681645	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM339T																					ENST00000572933.1:c.5399C>A	p.Ser1800Tyr	p.S1800Y	ENST00000572933		1800	tCc/tAc	0	validated		probablydamaging	
DNAH2		inserm.fr	GRCh37	17	7683490	7683490	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB325T									Valid												ENST00000572933.1:c.5738C>A	p.Thr1913Lys	p.T1913K	ENST00000572933		1913	aCa/aAa	0	validated		probablydamaging	
TIMP2		inserm.fr	GRCh37	17	76886922	76886922	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000322630.2:c.1664C>T	p.Ser555Phe	p.S555F	ENST00000322630	NM_001243540.1	555	tCc/tTc	0	not done			
TIMP2		inserm.fr	GRCh37	17	76888031	76888031	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000322630.2:c.555C>T	p.Gly185=	p.G185=	ENST00000322630	NM_001243540.1	185	ggC/ggT	0	not done		synonymous	
TIMP2		inserm.fr	GRCh37	17	76888131	76888131	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC917T																					ENST00000322630.2:c.455C>T	p.Ser152Leu	p.S152L	ENST00000322630	NM_001243540.1	152	tCg/tTg	0	validated			
MYO7A		inserm.fr	GRCh37	11	76901090	76901090	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000409709.3:c.3656G>A	p.Gly1219Asp	p.G1219D	ENST00000409709	NM_000260.3	1219	gGc/gAc	0	not done		probablydamaging	
CXCL9		inserm.fr	GRCh37	4	76926006	76926006	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC051T									Valid												ENST00000264888.5:c.232G>T	p.Asp78Tyr	p.D78Y	ENST00000264888	NM_002416.1	78	Gat/Tat	0	validated		probablydamaging	
ATRX		inserm.fr	GRCh37	X	76937441	76937441	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			BCB111T									Valid												ENST00000373344.5:c.3307A>T	p.Lys1103Ter	p.K1103*	ENST00000373344	NM_000489.3	1103	Aag/Tag	0	validated		damaging	
ESRRB		inserm.fr	GRCh37	14	76948975	76948975	+	synonymous_variant	Silent	SNP	G	A	A			BCM531T																					ENST00000380887.2:c.660G>A	p.Glu220=	p.E220=	ENST00000380887		220	gaG/gaA	0	validated		synonymous	
ESRRB		inserm.fr	GRCh37	14	76957841	76957841	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000380887.2:c.839G>A	p.Trp280Ter	p.W280*	ENST00000380887		280	tGg/tAg	0	not done		damaging	
DNAH2		inserm.fr	GRCh37	17	7696128	7696128	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000572933.1:c.7299G>A	p.Leu2433=	p.L2433=	ENST00000572933		2433	ctG/ctA	0	not done		synonymous	
ADCY2		inserm.fr	GRCh37	5	7698432	7698432	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1207T																					ENST00000338316.4:c.1054C>A	p.Pro352Thr	p.P352T	ENST00000338316	NM_020546.2	352	Cct/Act	0	not done		probablydamaging	
SCAPER		inserm.fr	GRCh37	15	76995296	76995296	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC805T																					ENST00000563290.1:c.2295A>T	p.Lys765Asn	p.K765N	ENST00000563290		765	aaA/aaT	0	not done		probablydamaging	
DNAH2		inserm.fr	GRCh37	17	7700494	7700494	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000572933.1:c.7864G>A	p.Val2622Met	p.V2622M	ENST00000572933		2622	Gtg/Atg	0	not done		probablydamaging	
DEFB125		inserm.fr	GRCh37	20	77035	77035	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1052T																					ENST00000382410.2:c.448C>A	p.Gln150Lys	p.Q150K	ENST00000382410	NM_153325.2	150	Cag/Aag	0	validated		benign	
STXBP2		inserm.fr	GRCh37	19	7706960	7706960	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000221283.5:c.619G>A	p.Ala207Thr	p.A207T	ENST00000221283	NM_006949.3	207	Gcc/Acc	0	not done		benign	
ENGASE		inserm.fr	GRCh37	17	77077106	77077106	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000579016.1:c.823G>A	p.Val275Met	p.V275M	ENST00000579016	NM_001042573.2	275	Gtg/Atg	0	not done		possiblydamaging	
ADCY2		inserm.fr	GRCh37	5	7707881	7707881	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM759T																					ENST00000338316.4:c.1331G>A	p.Gly444Glu	p.G444E	ENST00000338316	NM_020546.2	444	gGa/gAa	0	validated		probablydamaging	
ENGASE		inserm.fr	GRCh37	17	77079657	77079657	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000579016.1:c.1236G>A	p.Arg412=	p.R412=	ENST00000579016	NM_001042573.2	412	agG/agA	0	not done		synonymous	
DNAH2		inserm.fr	GRCh37	17	7710874	7710874	+	synonymous_variant	Silent	SNP	G	A	A			BCM711T																					ENST00000572933.1:c.9699G>A	p.Ala3233=	p.A3233=	ENST00000572933		3233	gcG/gcA	0	validated		synonymous	
DNAH2		inserm.fr	GRCh37	17	7710899	7710899	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000572933.1:c.9724C>A	p.Arg3242=	p.R3242=	ENST00000572933		3242	Cgg/Agg	0	not done		synonymous	
STXBP2		inserm.fr	GRCh37	19	7712083	7712083	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000221283.5:c.1488G>A	p.Trp496Ter	p.W496*	ENST00000221283	NM_006949.3	496	tgG/tgA	0	not done		damaging	
SORCS2		inserm.fr	GRCh37	4	7714467	7714467	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1044T																					ENST00000507866.2:c.1876G>A	p.Gly626Ser	p.G626S	ENST00000507866	NM_020777.2	626	Ggc/Agc	0	not done		probablydamaging	
NFATC1		inserm.fr	GRCh37	18	77170458	77170458	+	synonymous_variant	Silent	SNP	G	A	A			CHC2141T																					ENST00000329101.4:c.144G>A	p.Ala48=	p.A48=	ENST00000329101	NM_172387.2	48	gcG/gcA	0	not done		synonymous	
NFATC1		inserm.fr	GRCh37	18	77171215	77171215	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1743T																					ENST00000329101.4:c.901G>A	p.Ala301Thr	p.A301T	ENST00000329101	NM_172387.2	301	Gcc/Acc	0	not done		possiblydamaging	
FAM173A		inserm.fr	GRCh37	16	771842	771842	+	synonymous_variant	Silent	SNP	C	A	A			CHC322T																					ENST00000569529.1:c.309C>A	p.Gly103=	p.G103=	ENST00000569529	NM_023933.2	103	ggC/ggA	0	validated		synonymous	
NFATC1		inserm.fr	GRCh37	18	77208898	77208898	+	synonymous_variant	Silent	SNP	C	A	A			CHC1201T																					ENST00000329101.4:c.1464C>A	p.Thr488=	p.T488=	ENST00000329101	NM_172387.2	488	acC/acA	0	not done		synonymous	
MON1B		inserm.fr	GRCh37	16	77227668	77227668	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC892T																					ENST00000248248.3:c.469T>A	p.Tyr157Asn	p.Y157N	ENST00000248248	NM_014940.2	157	Tac/Aac	0	not done		possiblydamaging	
OVCH2		inserm.fr	GRCh37	11	7723817	7723817	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1566T																					ENST00000454689.1:c.350C>T	p.Pro117Leu	p.P117L	ENST00000454689	NM_198185.3	117	cCa/cTa	0	not done		benign	
CAMTA1		inserm.fr	GRCh37	1	7724102	7724102	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1148T																					ENST00000303635.7:c.1495G>A	p.Gly499Arg	p.G499R	ENST00000303635	NM_015215.2	499	Ggg/Agg	0	not done		probablydamaging	
ATP7A		inserm.fr	GRCh37	X	77244919	77244919	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000341514.6:c.801G>A	p.Gln267=	p.Q267=	ENST00000341514	NM_000052.5	267	caG/caA	0	not done		synonymous	
PTPN12		inserm.fr	GRCh37	7	77247820	77247820	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC434T																					ENST00000248594.6:c.963G>A	p.Met321Ile	p.M321I	ENST00000248594	NM_002835.3	321	atG/atA	0	validated		benign	
CAMTA1		inserm.fr	GRCh37	1	7725167	7725167	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC794T																					ENST00000303635.7:c.2560G>A	p.Ala854Thr	p.A854T	ENST00000303635	NM_015215.2	854	Gcc/Acc	0	validated		probablydamaging	
ANGEL1		inserm.fr	GRCh37	14	77269772	77269772	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000251089.2:c.1560C>T	p.Ile520=	p.I520=	ENST00000251089	NM_015305.3	520	atC/atT	0	validated		synonymous	
BMP6		inserm.fr	GRCh37	6	7727507	7727507	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000283147.6:c.319C>A	p.Leu107Ile	p.L107I	ENST00000283147	NM_001718.4	107	Ctc/Atc	0	not done		benign	
ATP7A		inserm.fr	GRCh37	X	77301946	77301946	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000341514.6:c.4382G>A	p.Arg1461Lys	p.R1461K	ENST00000341514	NM_000052.5	1461	aGa/aAa	0	not done		possiblydamaging	
PSTPIP1		inserm.fr	GRCh37	15	77323531	77323531	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1749T																					ENST00000558012.1:c.653T>A	p.Leu218Gln	p.L218Q	ENST00000558012	NM_003978.3	218	cTg/cAg	0	validated		benign	
PSTPIP1		inserm.fr	GRCh37	15	77324710	77324710	+	synonymous_variant	Silent	SNP	C	A	A			CHC1744T																					ENST00000558012.1:c.813C>A	p.Ala271=	p.A271=	ENST00000558012	NM_003978.3	271	gcC/gcA	0	not done		synonymous	
ADAMTS18		inserm.fr	GRCh37	16	77325219	77325219	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000282849.5:c.3346C>T	p.Pro1116Ser	p.P1116S	ENST00000282849	NM_199355.2	1116	Cca/Tca	0	not done		probablydamaging	
ADAMTS18		inserm.fr	GRCh37	16	77353758	77353758	+	synonymous_variant	Silent	SNP	C	A	A			BCB307T																					ENST00000282849.5:c.2520G>T	p.Thr840=	p.T840=	ENST00000282849	NM_199355.2	840	acG/acT	0	validated		synonymous	
ADAMTS18		inserm.fr	GRCh37	16	77369787	77369787	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000282849.5:c.1725C>T	p.Gly575=	p.G575=	ENST00000282849	NM_199355.2	575	ggC/ggT	0	not done		synonymous	
TRPM6		inserm.fr	GRCh37	9	77377629	77377629	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000360774.1:c.3958C>T	p.Gln1320Ter	p.Q1320*	ENST00000360774	NM_017662.4	1320	Caa/Taa	0	not done		damaging	
ADAMTS18		inserm.fr	GRCh37	16	77398093	77398093	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM275T																					ENST00000282849.5:c.964A>T	p.Met322Leu	p.M322L	ENST00000282849	NM_199355.2	322	Atg/Ttg	0	validated		probablydamaging	
PEAK1		inserm.fr	GRCh37	15	77407302	77407302	+	synonymous_variant	Silent	SNP	C	A	A			CHC794T																					ENST00000560626.2:c.4437G>T	p.Leu1479=	p.L1479=	ENST00000560626		1479	ctG/ctT	0	validated		synonymous	
PEAK1		inserm.fr	GRCh37	15	77425645	77425645	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC912T																					ENST00000560626.2:c.3779C>T	p.Pro1260Leu	p.P1260L	ENST00000560626		1260	cCc/cTc	0	validated		benign	
TRPM6		inserm.fr	GRCh37	9	77436630	77436630	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC326T									Valid												ENST00000360774.1:c.965C>T	p.Ala322Val	p.A322V	ENST00000360774	NM_017662.4	322	gCg/gTg	0	validated		probablydamaging	
TRPM6		inserm.fr	GRCh37	9	77442722	77442722	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1756T																					ENST00000360774.1:c.813G>T	p.Lys271Asn	p.K271N	ENST00000360774	NM_017662.4	271	aaG/aaT	0	not done		probablydamaging	
TRPM6		inserm.fr	GRCh37	9	77457194	77457194	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000360774.1:c.218C>T	p.Ala73Val	p.A73V	ENST00000360774	NM_017662.4	73	gCc/gTc	0	not done		benign	
KCTD12		inserm.fr	GRCh37	13	77460204	77460204	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1044T																					ENST00000377474.2:c.80C>T	p.Ala27Val	p.A27V	ENST00000377474	NM_138444.3	27	gCg/gTg	0	not done		possiblydamaging	
CTDP1		inserm.fr	GRCh37	18	77464808	77464808	+	synonymous_variant	Silent	SNP	G	A	A			CHC1629T																					ENST00000299543.7:c.663G>A	p.Leu221=	p.L221=	ENST00000299543	NM_001202504.1	221	ctG/ctA	0	not done		synonymous	
PHTF2		inserm.fr	GRCh37	7	77469618	77469618	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000416283.2:c.45+1G>A		p.X15_splice	ENST00000416283	NM_020432.4			0	not done		damaging	
CTDP1		inserm.fr	GRCh37	18	77474617	77474617	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000299543.7:c.1157G>A	p.Gly386Asp	p.G386D	ENST00000299543	NM_001202504.1	386	gGc/gAc	0	not done		probablydamaging	
CTDP1		inserm.fr	GRCh37	18	77474649	77474649	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM325T																					ENST00000299543.7:c.1189C>A	p.Arg397Ser	p.R397S	ENST00000299543	NM_001202504.1	397	Cgc/Agc	0	validated		benign	
TRAPPC5		inserm.fr	GRCh37	19	7747646	7747646	+	synonymous_variant	Silent	SNP	G	A	A			CHC1717T																					ENST00000317378.5:c.507G>A	p.Thr169=	p.T169=	ENST00000317378	NM_174894.2	169	acG/acA	0	not done		synonymous	
CTDP1		inserm.fr	GRCh37	18	77488970	77488970	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000299543.7:c.2481G>A	p.Glu827=	p.E827=	ENST00000299543	NM_001202504.1	827	gaG/gaA	0	not done		synonymous	
IRF2BPL		inserm.fr	GRCh37	14	77492855	77492855	+	synonymous_variant	Silent	SNP	C	A	A			CHC1744T																					ENST00000238647.3:c.1281G>T	p.Ser427=	p.S427=	ENST00000238647	NM_024496.3	427	tcG/tcT	0	not done		synonymous	
KDM6B		inserm.fr	GRCh37	17	7751599	7751599	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000254846.5:c.1993G>A	p.Ala665Thr	p.A665T	ENST00000254846	NM_001080424.1	665	Gcc/Acc	0	not done		benign	
CYSLTR1		inserm.fr	GRCh37	X	77529202	77529202	+	synonymous_variant	Silent	SNP	G	A	A			CHC703T																					ENST00000373304.3:c.42C>T	p.Cys14=	p.C14=	ENST00000373304	NM_001282188.1	14	tgC/tgT	0	not done		synonymous	
CYSLTR1		inserm.fr	GRCh37	X	77529203	77529203	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC703T																					ENST00000373304.3:c.41G>T	p.Cys14Phe	p.C14F	ENST00000373304	NM_001282188.1	14	tGc/tTc	0	validated		possiblydamaging	
PHTF2		inserm.fr	GRCh37	7	77530097	77530097	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000416283.2:c.184G>A	p.Gly62Arg	p.G62R	ENST00000416283	NM_020432.4	62	Ggg/Agg	0	not done		probablydamaging	
KDM6B		inserm.fr	GRCh37	17	7753156	7753156	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC796T									Valid												ENST00000254846.5:c.3458G>A	p.Gly1153Glu	p.G1153E	ENST00000254846	NM_001080424.1	1153	gGg/gAg	0	validated		probablydamaging	
ROBO2		inserm.fr	GRCh37	3	77571985	77571985	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM501T																					ENST00000487694.3:c.914G>A	p.Gly305Asp	p.G305D	ENST00000487694	NM_001128929.2	305	gGc/gAc	0	validated		probablydamaging	
PHTF2		inserm.fr	GRCh37	7	77580964	77580964	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1712T																					ENST00000416283.2:c.2044C>A	p.Pro682Thr	p.P682T	ENST00000416283	NM_020432.4	682	Cct/Act	0	not done		probablydamaging	
TMEM88		inserm.fr	GRCh37	17	7758569	7758569	+	synonymous_variant	Silent	SNP	C	A	A			CHC961T																					ENST00000301599.6:c.177C>A	p.Thr59=	p.T59=	ENST00000301599	NM_203411.1	59	acC/acA	0	validated		synonymous	
ROBO2		inserm.fr	GRCh37	3	77617571	77617571	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC327T																					ENST00000487694.3:c.2005C>A	p.Gln669Lys	p.Q669K	ENST00000487694	NM_001128929.2	669	Cag/Aag	0	validated		probablydamaging	
C9orf41		inserm.fr	GRCh37	9	77631187	77631187	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC313T																					ENST00000376834.3:c.587G>T	p.Arg196Ile	p.R196I	ENST00000376834	NM_152420.1	196	aGa/aTa	0	validated		probablydamaging	
C9orf41		inserm.fr	GRCh37	9	77631239	77631239	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC912T																					ENST00000376834.3:c.535G>T	p.Ala179Ser	p.A179S	ENST00000376834	NM_152420.1	179	Gcc/Tcc	0	validated		benign	
PIGK		inserm.fr	GRCh37	1	77632503	77632503	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1725T																					ENST00000370812.3:c.388A>T	p.Asn130Tyr	p.N130Y	ENST00000370812	NM_005482.2	130	Aat/Tat	0	not done		probablydamaging	
MYCBP2		inserm.fr	GRCh37	13	77642704	77642704	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC314T									Valid												ENST00000544440.2:c.12053G>T	p.Arg4018Ile	p.R4018I	ENST00000544440		4018	aGa/aTa	0	validated		probablydamaging	
KCNG2		inserm.fr	GRCh37	18	77659068	77659068	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1738T																					ENST00000316249.3:c.653T>A	p.Leu218Gln	p.L218Q	ENST00000316249	NM_012283.1	218	cTg/cAg	0	not done		probablydamaging	
SHROOM3		inserm.fr	GRCh37	4	77662310	77662310	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2215T																					ENST00000296043.6:c.2984T>A	p.Leu995Gln	p.L995Q	ENST00000296043	NM_020859.3	995	cTg/cAg	0	not done		possiblydamaging	
SHROOM3		inserm.fr	GRCh37	4	77662770	77662770	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000296043.6:c.3444G>A	p.Gln1148=	p.Q1148=	ENST00000296043	NM_020859.3	1148	caG/caA	0	not done		synonymous	
SHROOM3		inserm.fr	GRCh37	4	77677825	77677825	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2200T																					ENST00000296043.6:c.4933G>A	p.Val1645Ile	p.V1645I	ENST00000296043	NM_020859.3	1645	Gtc/Atc	0	not done		benign	
SHROOM3		inserm.fr	GRCh37	4	77678078	77678078	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB167T																					ENST00000296043.6:c.5186G>A	p.Cys1729Tyr	p.C1729Y	ENST00000296043	NM_020859.3	1729	tGt/tAt	0	validated		benign	
NMRK1		inserm.fr	GRCh37	9	77684827	77684827	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1079T																					ENST00000361092.4:c.301C>T	p.Leu101Phe	p.L101F	ENST00000361092	NM_017881.2	101	Ctt/Ttt	0	not done		probablydamaging	
ROBO2		inserm.fr	GRCh37	3	77693989	77693989	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC313T																					ENST00000487694.3:c.4117G>A	p.Ala1373Thr	p.A1373T	ENST00000487694	NM_001128929.2	1373	Gcc/Acc	0	validated		benign	
MYCBP2		inserm.fr	GRCh37	13	77700602	77700602	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC961T									Valid												ENST00000544440.2:c.7621C>T	p.Gln2541Ter	p.Q2541*	ENST00000544440		2541	Caa/Taa	0	validated		damaging	
MYCBP2		inserm.fr	GRCh37	13	77745707	77745707	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC794T									Valid												ENST00000544440.2:c.5600A>T	p.Asn1867Ile	p.N1867I	ENST00000544440		1867	aAc/aTc	0	validated		probablydamaging	
LRRTM4		inserm.fr	GRCh37	2	77746164	77746164	+	synonymous_variant	Silent	SNP	G	A	A			CHC2208T																					ENST00000409093.1:c.831C>T	p.Pro277=	p.P277=	ENST00000409093		277	ccC/ccT	0	not done		synonymous	
CBX2		inserm.fr	GRCh37	17	77752185	77752185	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	A	A			CHC961T																					ENST00000310942.4:c.75C>A	p.Gly25=	p.G25=	ENST00000310942	NM_005189.2	25	ggC/ggA	0	validated		synonymous	
ZFHX4		inserm.fr	GRCh37	8	77765852	77765852	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC469T																					ENST00000521891.2:c.6695G>A	p.Arg2232Lys	p.R2232K	ENST00000521891	NM_024721.4	2232	aGa/aAa	0	validated		probablydamaging	
ZFHX4		inserm.fr	GRCh37	8	77767649	77767649	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000521891.2:c.8492G>A	p.Gly2831Glu	p.G2831E	ENST00000521891	NM_024721.4	2831	gGa/gAa	0	not done		benign	
ZFHX4		inserm.fr	GRCh37	8	77775728	77775728	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2099T																					ENST00000521891.2:c.9778G>A	p.Gly3260Arg	p.G3260R	ENST00000521891	NM_024721.4	3260	Gga/Aga	0	not done		probablydamaging	
C10orf11		inserm.fr	GRCh37	10	77795803	77795803	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2202T																					ENST00000372499.1:c.85G>A	p.Glu29Lys	p.E29K	ENST00000372499	NM_032024.3	29	Gaa/Aaa	0	not done		possiblydamaging	
CBX4		inserm.fr	GRCh37	17	77808049	77808049	+	synonymous_variant	Silent	SNP	C	A	A			CHC1209T																					ENST00000269397.4:c.1392G>T	p.Leu464=	p.L464=	ENST00000269397	NM_003655.2	464	ctG/ctT	0	validated		synonymous	
TMED8		inserm.fr	GRCh37	14	77812775	77812775	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2034T																					ENST00000216468.7:c.244C>T	p.Arg82Trp	p.R82W	ENST00000216468	NM_213601.1	82	Cgg/Tgg	0	not done		probablydamaging	
SOWAHB		inserm.fr	GRCh37	4	77818978	77818978	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000334306.2:c.25G>T	p.Ala9Ser	p.A9S	ENST00000334306	NM_001029870.1	9	Gca/Tca	0	not done		probablydamaging	
VAT1L		inserm.fr	GRCh37	16	77822763	77822763	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000302536.2:c.184G>A	p.Ala62Thr	p.A62T	ENST00000302536	NM_020927.1	62	Gcc/Acc	0	not done		benign	
ADNP2		inserm.fr	GRCh37	18	77895456	77895456	+	synonymous_variant	Silent	SNP	G	A	A			CHC1568T																					ENST00000262198.4:c.2160G>A	p.Glu720=	p.E720=	ENST00000262198	NM_014913.3	720	gaG/gaA	0	not done		synonymous	
MYCBP2		inserm.fr	GRCh37	13	77900848	77900848	+	upstream_gene_variant	5'Flank	SNP	T	A	A			BCB307T																								ENST00000544440				0	validated		synonymous	
LINGO1		inserm.fr	GRCh37	15	77906539	77906539	+	synonymous_variant	Silent	SNP	G	A	A			CHC1192T																					ENST00000355300.6:c.1710C>T	p.Gly570=	p.G570=	ENST00000355300	NM_032808.5	570	ggC/ggT	0	not done		synonymous	
LINGO1		inserm.fr	GRCh37	15	77907100	77907100	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000355300.6:c.1149C>T	p.Arg383=	p.R383=	ENST00000355300	NM_032808.5	383	cgC/cgT	0	not done		synonymous	
LINGO1		inserm.fr	GRCh37	15	77907282	77907282	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000355300.6:c.967C>T	p.Leu323=	p.L323=	ENST00000355300	NM_032808.5	323	Ctg/Ttg	0	not done		synonymous	
PARD6G		inserm.fr	GRCh37	18	77917713	77917713	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2208T																					ENST00000353265.3:c.1072C>T	p.His358Tyr	p.H358Y	ENST00000353265	NM_032510.3	358	Cac/Tac	0	not done		possiblydamaging	
PARD6G		inserm.fr	GRCh37	18	77917906	77917906	+	synonymous_variant	Silent	SNP	C	A	A			CHC322T																					ENST00000353265.3:c.879G>T	p.Ala293=	p.A293=	ENST00000353265	NM_032510.3	293	gcG/gcT	0	validated		synonymous	
GAB2		inserm.fr	GRCh37	11	77932772	77932772	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2215T																					ENST00000361507.4:c.1712G>T	p.Ser571Ile	p.S571I	ENST00000361507	NM_080491.2	571	aGc/aTc	0	validated		probablydamaging	
GAB2		inserm.fr	GRCh37	11	77961412	77961412	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000361507.4:c.411C>T	p.Gly137=	p.G137=	ENST00000361507	NM_080491.2	137	ggC/ggT	0	validated		synonymous	
AK5		inserm.fr	GRCh37	1	77987598	77987598	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000354567.2:c.1398G>A	p.Glu466=	p.E466=	ENST00000354567	NM_174858.2	466	gaG/gaA	0	not done		synonymous	
APOBEC1		inserm.fr	GRCh37	12	7803686	7803686	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM791T																					ENST00000229304.4:c.494C>T	p.Ala165Val	p.A165V	ENST00000229304	NM_001644.3	165	gCt/gTt	0	validated		benign	
ZZZ3		inserm.fr	GRCh37	1	78045257	78045257	+	synonymous_variant	Silent	SNP	G	A	A			CHC1754T																					ENST00000370801.3:c.2037C>T	p.Arg679=	p.R679=	ENST00000370801	NM_015534.4	679	cgC/cgT	0	not done		synonymous	
CCDC40		inserm.fr	GRCh37	17	78073387	78073387	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000397545.4:c.3242G>A	p.Gly1081Glu	p.G1081E	ENST00000397545	NM_017950.3	1081	gGg/gAg	0	not done		probablydamaging	
GAA		inserm.fr	GRCh37	17	78078824	78078824	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000302262.3:c.439G>A	p.Gly147Ser	p.G147S	ENST00000302262	NM_000152.3	147	Ggc/Agc	0	not done		probablydamaging	
GAA		inserm.fr	GRCh37	17	78082367	78082367	+	synonymous_variant	Silent	SNP	C	A	A			CHC1035T																					ENST00000302262.3:c.1155C>A	p.Arg385=	p.R385=	ENST00000302262	NM_000152.3	385	cgC/cgA	0	validated		synonymous	
CD209		inserm.fr	GRCh37	19	7809923	7809923	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000315599.7:c.804C>T	p.Tyr268=	p.Y268=	ENST00000315599	NM_021155.3	268	taC/taT	0	not done		synonymous	
SCEL		inserm.fr	GRCh37	13	78143517	78143517	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000349847.3:c.410G>A	p.Gly137Asp	p.G137D	ENST00000349847	NM_144777.2	137	gGt/gAt	0	not done		possiblydamaging	
SCEL		inserm.fr	GRCh37	13	78146258	78146258	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000349847.3:c.480-1G>A		p.X160_splice	ENST00000349847	NM_144777.2			0	not done		damaging	
CARD14		inserm.fr	GRCh37	17	78155317	78155317	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1205T																					ENST00000573882.1:c.80G>A	p.Arg27His	p.R27H	ENST00000573882		27	cGc/cAc	0	not done		probablydamaging	
CARD14		inserm.fr	GRCh37	17	78157940	78157940	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000573882.1:c.578G>A	p.Arg193Lys	p.R193K	ENST00000573882		193	aGg/aAg	0	not done		benign	
HTR1B		inserm.fr	GRCh37	6	78172444	78172444	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T																					ENST00000369947.2:c.677C>T	p.Ala226Val	p.A226V	ENST00000369947	NM_000863.1	226	gCc/gTc	0	validated		benign	
HTR1B		inserm.fr	GRCh37	6	78172848	78172848	+	synonymous_variant	Silent	SNP	C	A	A			CHC805T																					ENST00000369947.2:c.273G>T	p.Leu91=	p.L91=	ENST00000369947	NM_000863.1	91	ctG/ctT	0	not done		synonymous	
C14orf178		inserm.fr	GRCh37	14	78235946	78235946	+	synonymous_variant	Silent	SNP	G	A	A			CHC1704T																					ENST00000355883.3:c.294G>A	p.Ser98=	p.S98=	ENST00000355883	NM_174943.3	98	tcG/tcA	0	not done		synonymous	
ARSB		inserm.fr	GRCh37	5	78281041	78281041	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM321T																					ENST00000264914.4:c.31C>T	p.Arg11Ter	p.R11*	ENST00000264914	NM_000046.3	11	Cga/Tga	0	validated		damaging	
TBC1D2B		inserm.fr	GRCh37	15	78305370	78305370	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1545T																					ENST00000300584.3:c.2065C>T	p.Pro689Ser	p.P689S	ENST00000300584	NM_144572.1	689	Cct/Tct	0	not done		probablydamaging	
RNF213		inserm.fr	GRCh37	17	78320289	78320289	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC451T																					ENST00000582970.1:c.8154C>A	p.Ser2718Arg	p.S2718R	ENST00000582970	NM_001256071.1	2718	agC/agA	0	validated		benign	
CFAP90		inserm.fr	GRCh37	5	7832094	7832094	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1182T																					ENST00000399810.2:c.313C>T	p.Arg105Cys	p.R105C	ENST00000399810	NM_001089584.2	105	Cgc/Tgc	0	not done		benign	
RNF213		inserm.fr	GRCh37	17	78337556	78337556	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB301T																					ENST00000582970.1:c.11716G>A	p.Gly3906Arg	p.G3906R	ENST00000582970	NM_001256071.1	3906	Ggg/Agg	0	validated		probablydamaging	
TENM4		inserm.fr	GRCh37	11	78369498	78369498	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM723T																					ENST00000278550.7:c.7915C>T	p.Arg2639Ter	p.R2639*	ENST00000278550	NM_001098816.2	2639	Cga/Tga	0	validated		damaging	
TENM4		inserm.fr	GRCh37	11	78383117	78383117	+	synonymous_variant	Silent	SNP	G	A	A			CHC1534T																					ENST00000278550.7:c.5754C>T	p.Phe1918=	p.F1918=	ENST00000278550	NM_001098816.2	1918	ttC/ttT	0	validated		synonymous	
TENM4		inserm.fr	GRCh37	11	78387315	78387315	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000278550.7:c.5378C>T	p.Pro1793Leu	p.P1793L	ENST00000278550	NM_001098816.2	1793	cCc/cTc	0	not done		probablydamaging	
ADCK1		inserm.fr	GRCh37	14	78390820	78390820	+	synonymous_variant	Silent	SNP	G	A	A			CHC1211T																					ENST00000238561.5:c.879G>A	p.Lys293=	p.K293=	ENST00000238561	NM_020421.3	293	aaG/aaA	0	not done		synonymous	
ADCK1		inserm.fr	GRCh37	14	78398003	78398003	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000238561.5:c.1349G>A	p.Ser450Asn	p.S450N	ENST00000238561	NM_020421.3	450	aGc/aAc	0	not done		benign	
NAV3		inserm.fr	GRCh37	12	78400874	78400874	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000536525.2:c.1556G>A	p.Ser519Asn	p.S519N	ENST00000536525	NM_014903.4	519	aGc/aAc	0	not done		possiblydamaging	
AFAP1		inserm.fr	GRCh37	4	7840267	7840267	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000420658.1:c.710C>T	p.Ala237Val	p.A237V	ENST00000420658	NM_001134647.1	237	gCc/gTc	0	not done		probablydamaging	
ATP5C1		inserm.fr	GRCh37	10	7841048	7841048	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000356708.7:c.319C>A	p.His107Asn	p.H107N	ENST00000356708	NM_001001973.1	107	Cat/Aat	0	validated		possiblydamaging	
WWOX		inserm.fr	GRCh37	16	78420826	78420826	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM375T																					ENST00000566780.1:c.586G>A	p.Ala196Thr	p.A196T	ENST00000566780	NM_016373.2	196	Gca/Aca	0	validated		benign	
GPR174		inserm.fr	GRCh37	X	78427408	78427408	+	synonymous_variant	Silent	SNP	C	A	A			CHC097T																					ENST00000276077.1:c.904C>A	p.Arg302=	p.R302=	ENST00000276077	NM_032553.1	302	Cgg/Agg	0	not done		synonymous	
GDF3		inserm.fr	GRCh37	12	7842814	7842814	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000329913.3:c.755C>T	p.Ala252Val	p.A252V	ENST00000329913	NM_020634.1	252	gCc/gTc	0	not done		benign	
IDH3A		inserm.fr	GRCh37	15	78454028	78454028	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000299518.2:c.395G>A	p.Gly132Asp	p.G132D	ENST00000299518	NM_005530.2	132	gGc/gAc	0	not done		possiblydamaging	
TENM4		inserm.fr	GRCh37	11	78467927	78467927	+	synonymous_variant	Silent	SNP	G	A	A			CHC2128T																					ENST00000278550.7:c.2679C>T	p.Ser893=	p.S893=	ENST00000278550	NM_001098816.2	893	tcC/tcT	0	not done		synonymous	
CNTROB		inserm.fr	GRCh37	17	7847516	7847516	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000380262.3:c.1521G>A	p.Met507Ile	p.M507I	ENST00000380262	NM_001037144.5	507	atG/atA	0	not done		benign	
CFAP90		inserm.fr	GRCh37	5	7851030	7851030	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000399810.2:c.105C>T	p.Arg35=	p.R35=	ENST00000399810	NM_001089584.2	35	cgC/cgT	0	not done		synonymous	
NAV3		inserm.fr	GRCh37	12	78513131	78513131	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2103T																					ENST00000536525.2:c.3155C>A	p.Pro1052His	p.P1052H	ENST00000536525	NM_014903.4	1052	cCc/cAc	0	not done		probablydamaging	
NAV3		inserm.fr	GRCh37	12	78513256	78513256	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000536525.2:c.3280G>A	p.Gly1094Ser	p.G1094S	ENST00000536525	NM_014903.4	1094	Ggt/Agt	0	not done		probablydamaging	
NAV3		inserm.fr	GRCh37	12	78520981	78520981	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000536525.2:c.4273G>A	p.Gly1425Arg	p.G1425R	ENST00000536525	NM_014903.4	1425	Gga/Aga	0	not done		probablydamaging	
NAV3		inserm.fr	GRCh37	12	78573328	78573328	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000536525.2:c.5317G>A	p.Ala1773Thr	p.A1773T	ENST00000536525	NM_014903.4	1773	Gct/Act	0	not done		possiblydamaging	
NAV3		inserm.fr	GRCh37	12	78573455	78573455	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM371T																					ENST00000536525.2:c.5444G>A	p.Arg1815Gln	p.R1815Q	ENST00000536525	NM_014903.4	1815	cGg/cAg	0	validated		probablydamaging	
JMY		inserm.fr	GRCh37	5	78573890	78573890	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1085T																					ENST00000396137.4:c.1190G>A	p.Arg397Gln	p.R397Q	ENST00000396137	NM_152405.4	397	cGa/cAa	0	validated		possiblydamaging	
TENM4		inserm.fr	GRCh37	11	78600926	78600926	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000278550.7:c.988C>T	p.Leu330Phe	p.L330F	ENST00000278550	NM_001098816.2	330	Ctc/Ttc	0	not done		probablydamaging	
TENM4		inserm.fr	GRCh37	11	78614393	78614393	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1186T																					ENST00000278550.7:c.669G>T	p.Glu223Asp	p.E223D	ENST00000278550	NM_001098816.2	223	gaG/gaT	0	validated		probablydamaging	
ROBO1		inserm.fr	GRCh37	3	78663851	78663851	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC923T																					ENST00000464233.1:c.4382C>T	p.Ala1461Val	p.A1461V	ENST00000464233	NM_002941.3	1461	gCc/gTc	0	not done		benign	
PCSK5		inserm.fr	GRCh37	9	78686658	78686658	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000545128.1:c.738C>A	p.Asp246Glu	p.D246E	ENST00000545128	NM_001190482.1	246	gaC/gaA	0	not done		probablydamaging	
MTRR		inserm.fr	GRCh37	5	7870944	7870944	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000264668.2:c.118G>A	p.Gly40Arg	p.G40R	ENST00000264668	NM_024010.2	40	Gga/Aga	0	not done		probablydamaging	
PCSK5		inserm.fr	GRCh37	9	78710990	78710990	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000545128.1:c.1079G>A	p.Ser360Asn	p.S360N	ENST00000545128	NM_001190482.1	360	aGc/aAc	0	not done		probablydamaging	
AFAP1		inserm.fr	GRCh37	4	7873780	7873780	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2127T																					ENST00000420658.1:c.26G>T	p.Arg9Leu	p.R9L	ENST00000420658	NM_001134647.1	9	cGt/cTt	0	not done		possiblydamaging	
ROBO1		inserm.fr	GRCh37	3	78766532	78766532	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000464233.1:c.810C>T	p.Asn270=	p.N270=	ENST00000464233	NM_002941.3	270	aaC/aaT	0	not done		synonymous	
PCSK5		inserm.fr	GRCh37	9	78774017	78774017	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2351T																					ENST00000545128.1:c.1549C>A	p.Pro517Thr	p.P517T	ENST00000545128	NM_001190482.1	517	Ccc/Acc	0	not done		benign	
PCSK5		inserm.fr	GRCh37	9	78794564	78794564	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1052T																					ENST00000545128.1:c.1953C>A	p.Asp651Glu	p.D651E	ENST00000545128	NM_001190482.1	651	gaC/gaA	0	validated		benign	
PCSK5		inserm.fr	GRCh37	9	78794565	78794565	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1052T									Valid												ENST00000545128.1:c.1954C>A	p.His652Asn	p.H652N	ENST00000545128	NM_001190482.1	652	Cac/Aac	0	validated		probablydamaging	
PCSK5		inserm.fr	GRCh37	9	78804056	78804056	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000545128.1:c.2427G>A	p.Met809Ile	p.M809I	ENST00000545128	NM_001190482.1	809	atG/atA	0	not done		benign	
AGPHD1		inserm.fr	GRCh37	15	78805602	78805602	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC793T																					ENST00000388988.4:c.172G>A	p.Gly58Ser	p.G58S	ENST00000388988	NM_001013619.2	58	Ggc/Agc	0	validated		benign	
TXNDC5		inserm.fr	GRCh37	6	7883495	7883495	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB111T									Valid												ENST00000379757.4:c.1181G>T	p.Arg394Leu	p.R394L	ENST00000379757	NM_030810.3	394	cGa/cTa	0	validated		probablydamaging	
HAO1		inserm.fr	GRCh37	20	7886921	7886921	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1602T																					ENST00000378789.3:c.601G>T	p.Asp201Tyr	p.D201Y	ENST00000378789	NM_017545.2	201	Gac/Tac	0	not done		benign	
CHRNA5		inserm.fr	GRCh37	15	78882778	78882778	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000299565.5:c.1045G>A	p.Ala349Thr	p.A349T	ENST00000299565	NM_000745.3	349	Gcg/Acg	0	not done		probablydamaging	
PAPD4		inserm.fr	GRCh37	5	78915546	78915546	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000453514.1:c.75G>A	p.Leu25=	p.L25=	ENST00000453514	NM_001114394.1	25	ctG/ctA	0	not done		synonymous	
CHRNB4		inserm.fr	GRCh37	15	78921563	78921563	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000261751.3:c.1084C>T	p.Pro362Ser	p.P362S	ENST00000261751	NM_000750.3	362	Ccc/Tcc	0	not done		benign	
RPTOR		inserm.fr	GRCh37	17	78936378	78936378	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000306801.3:c.3809+1G>A		p.X1270_splice	ENST00000306801	NM_020761.2			0	not done		damaging	
PCSK5		inserm.fr	GRCh37	9	78936472	78936472	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000545128.1:c.3938C>A	p.Pro1313His	p.P1313H	ENST00000545128	NM_001190482.1	1313	cCc/cAc	0	not done			
TXNDC5		inserm.fr	GRCh37	6	7895409	7895409	+	synonymous_variant	Silent	SNP	G	A	A			CHC1741T																					ENST00000379757.4:c.546C>T	p.Pro182=	p.P182=	ENST00000379757	NM_030810.3	182	ccC/ccT	0	not done		synonymous	
CTD-2561B21.9		inserm.fr	GRCh37	17	79005256	79005256	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			BCM501T																					ENST00000577066.1:n.2139C>T		*713*	ENST00000577066				0	validated			
BAIAP2		inserm.fr	GRCh37	17	79031747	79031747	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000321300.6:c.197G>A	p.Ser66Asn	p.S66N	ENST00000321300	NM_001144888.1	66	aGc/aAc	0	not done		probablydamaging	
BAIAP2		inserm.fr	GRCh37	17	79060299	79060299	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000321300.6:c.408G>A	p.Lys136=	p.K136=	ENST00000321300	NM_001144888.1	136	aaG/aaA	0	not done		synonymous	
ADAMTS7		inserm.fr	GRCh37	15	79069168	79069168	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC465T									Valid												ENST00000388820.4:c.1483C>T	p.Leu495Phe	p.L495F	ENST00000388820	NM_014272.3	495	Ctc/Ttc	0	validated		probablydamaging	
GUCY2D		inserm.fr	GRCh37	17	7906943	7906943	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB231T																					ENST00000254854.4:c.578T>A	p.Leu193Gln	p.L193Q	ENST00000254854	NM_000180.3	193	cTg/cAg	0	validated		probablydamaging	
ADAMTS7		inserm.fr	GRCh37	15	79090420	79090420	+	synonymous_variant	Silent	SNP	G	A	A			CHC2215T																					ENST00000388820.4:c.492C>T	p.Phe164=	p.F164=	ENST00000388820	NM_014272.3	164	ttC/ttT	0	validated		synonymous	
AATK		inserm.fr	GRCh37	17	79095279	79095279	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000326724.4:c.2457C>T	p.Ala819=	p.A819=	ENST00000326724	NM_001080395.2	819	gcC/gcT	0	not done		synonymous	
AATK		inserm.fr	GRCh37	17	79095774	79095774	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000326724.4:c.1962C>T	p.Pro654=	p.P654=	ENST00000326724	NM_001080395.2	654	ccC/ccT	0	not done		synonymous	
AATK		inserm.fr	GRCh37	17	79096335	79096335	+	synonymous_variant	Silent	SNP	C	A	A			CHC304T																					ENST00000326724.4:c.1401G>T	p.Thr467=	p.T467=	ENST00000326724	NM_001080395.2	467	acG/acT	0	validated		synonymous	
IFI44L		inserm.fr	GRCh37	1	79101115	79101115	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370751.5:c.817G>A	p.Gly273Arg	p.G273R	ENST00000370751	NM_006820.2	273	Gga/Aga	0	not done		probablydamaging	
AATK		inserm.fr	GRCh37	17	79101449	79101449	+	synonymous_variant	Silent	SNP	C	A	A			CHC313T																					ENST00000326724.4:c.555G>T	p.Leu185=	p.L185=	ENST00000326724	NM_001080395.2	185	ctG/ctT	0	validated		synonymous	
NRXN3		inserm.fr	GRCh37	14	79111677	79111677	+	5_prime_UTR_variant	5'UTR	SNP	G	A	A			CHC892T																					ENST00000554719.1:c.-148G>A		*50*	ENST00000554719	NM_004796.5			0	not done		synonymous	
IFI44		inserm.fr	GRCh37	1	79128394	79128394	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000370747.4:c.1119G>A	p.Glu373=	p.E373=	ENST00000370747	NM_006417.4	373	gaG/gaA	0	not done		synonymous	
EVI5L		inserm.fr	GRCh37	19	7914975	7914975	+	synonymous_variant	Silent	SNP	G	A	A			CHC1061T																					ENST00000538904.2:c.720G>A	p.Gly240=	p.G240=	ENST00000538904	NM_001159944.1	240	ggG/ggA	0	validated		synonymous	
AZI1		inserm.fr	GRCh37	17	79167794	79167794	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC902T																					ENST00000450824.2:c.2253G>T	p.Glu751Asp	p.E751D	ENST00000450824		751	gaG/gaT	0	not done		possiblydamaging	
AZI1		inserm.fr	GRCh37	17	79171579	79171579	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC304T																					ENST00000450824.2:c.1580A>T	p.Gln527Leu	p.Q527L	ENST00000450824		527	cAa/cTa	0	validated		possiblydamaging	
POU4F1		inserm.fr	GRCh37	13	79175961	79175961	+	synonymous_variant	Silent	SNP	G	A	A			CHC794T																					ENST00000377208.5:c.849C>T	p.Gly283=	p.G283=	ENST00000377208	NM_006237.3	283	ggC/ggT	0	validated		synonymous	
POU4F1		inserm.fr	GRCh37	13	79176688	79176688	+	splice_acceptor_variant	Splice_Site	SNP	T	A	A			CHC1725T																					ENST00000377208.5:c.124-2A>T		p.X42_splice	ENST00000377208	NM_006237.3			0	not done		possiblydamaging	
MORF4L1		inserm.fr	GRCh37	15	79183877	79183877	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000331268.5:c.518G>A	p.Arg173Gln	p.R173Q	ENST00000331268	NM_206839.2	173	cGg/cAg	0	not done		benign	
RNF219		inserm.fr	GRCh37	13	79190319	79190319	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1052T									Valid												ENST00000282003.6:c.1577G>T	p.Ser526Ile	p.S526I	ENST00000282003	NM_024546.3	526	aGt/aTt	0	validated		probablydamaging	
RNF219		inserm.fr	GRCh37	13	79190454	79190454	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2127T																					ENST00000282003.6:c.1442A>T	p.Glu481Val	p.E481V	ENST00000282003	NM_024546.3	481	gAa/gTa	0	not done		possiblydamaging	
FRAS1		inserm.fr	GRCh37	4	79203977	79203977	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1137T																					ENST00000264895.6:c.1111G>A	p.Gly371Arg	p.G371R	ENST00000264895	NM_025074.6	371	Gga/Aga	0	not done		probablydamaging	
ENTHD2		inserm.fr	GRCh37	17	79205794	79205794	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000300714.3:c.554G>T	p.Gly185Val	p.G185V	ENST00000300714	NM_144679.2	185	gGa/gTa	0	not done		probablydamaging	
FRAS1		inserm.fr	GRCh37	4	79207559	79207559	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC2127T																					ENST00000264895.6:c.1400C>A	p.Ala467Asp	p.A467D	ENST00000264895	NM_025074.6	467	gCc/gAc	0	not done		probablydamaging	
FRAS1		inserm.fr	GRCh37	4	79236784	79236784	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000264895.6:c.1715G>A	p.Ser572Asn	p.S572N	ENST00000264895	NM_025074.6	572	aGc/aAc	0	validated		benign	
SLC38A10		inserm.fr	GRCh37	17	79254415	79254415	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1595T																					ENST00000374759.3:c.620G>T	p.Cys207Phe	p.C207F	ENST00000374759	NM_001037984.1	207	tGc/tTc	0	validated		probablydamaging	
SLC25A22		inserm.fr	GRCh37	11	792630	792630	+	synonymous_variant	Silent	SNP	G	A	A			CHC789T																					ENST00000320230.5:c.510C>T	p.Ala170=	p.A170=	ENST00000320230	NM_024698.5	170	gcC/gcT	0	not done		synonymous	
EVI5L		inserm.fr	GRCh37	19	7927049	7927049	+	synonymous_variant	Silent	SNP	G	A	A			CHC796T																					ENST00000538904.2:c.1686G>A	p.Arg562=	p.R562=	ENST00000538904	NM_001159944.1	562	cgG/cgA	0	validated		synonymous	
LINC00482		inserm.fr	GRCh37	17	79278611	79278611	+	non_coding_transcript_exon_variant	RNA	SNP	C	A	A			CHC1744T																					ENST00000332012.5:n.983G>T		*328*	ENST00000332012				0	not done		probablydamaging	
MTX3		inserm.fr	GRCh37	5	79287020	79287020	+	5_prime_UTR_variant	5'UTR	SNP	C	A	A			CHC1207T																					ENST00000512560.1:c.-72G>T		*24*	ENST00000512560	NM_001167741.1			0	validated		probablydamaging	
RASGRF1		inserm.fr	GRCh37	15	79317706	79317706	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000419573.3:c.1492C>T	p.His498Tyr	p.H498Y	ENST00000419573	NM_002891.4	498	Cat/Tat	0	not done		probablydamaging	
PRUNE2		inserm.fr	GRCh37	9	79320547	79320547	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1738T																					ENST00000376718.3:c.6643G>T	p.Ala2215Ser	p.A2215S	ENST00000376718	NM_015225.2	2215	Gca/Tca	0	not done		benign	
PRUNE2		inserm.fr	GRCh37	9	79321332	79321332	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000376718.3:c.5858C>T	p.Thr1953Ile	p.T1953I	ENST00000376718	NM_015225.2	1953	aCa/aTa	0	not done		benign	
FRAS1		inserm.fr	GRCh37	4	79322035	79322035	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC961T																					ENST00000264895.6:c.4123C>A	p.Gln1375Lys	p.Q1375K	ENST00000264895	NM_025074.6	1375	Cag/Aag	0	validated		benign	
PRUNE2		inserm.fr	GRCh37	9	79322974	79322974	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1594T																					ENST00000376718.3:c.4216G>T	p.Gly1406Trp	p.G1406W	ENST00000376718	NM_015225.2	1406	Ggg/Tgg	0	not done		probablydamaging	
PRUNE2		inserm.fr	GRCh37	9	79325235	79325235	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1715T																					ENST00000376718.3:c.1955G>T	p.Arg652Leu	p.R652L	ENST00000376718	NM_015225.2	652	cGg/cTg	0	not done		probablydamaging	
PRUNE2		inserm.fr	GRCh37	9	79326058	79326058	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000376718.3:c.1132C>T	p.Leu378Phe	p.L378F	ENST00000376718	NM_015225.2	378	Ctc/Ttc	0	not done		probablydamaging	
FRAS1		inserm.fr	GRCh37	4	79328946	79328946	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC302T									Valid												ENST00000264895.6:c.4259G>A	p.Trp1420Ter	p.W1420*	ENST00000264895	NM_025074.6	1420	tGg/tAg	0	validated		damaging	
THBS4		inserm.fr	GRCh37	5	79357605	79357605	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2215T																					ENST00000350881.2:c.1075G>A	p.Gly359Arg	p.G359R	ENST00000350881	NM_003248.4	359	Ggg/Agg	0	not done		probablydamaging	
FLJ22184		inserm.fr	GRCh37	19	7938336	7938336	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC465T																					ENST00000539422.1:c.239C>T	p.Thr80Met	p.T80M	ENST00000539422	NM_001190467.1	80	aCg/aTg	0	validated			
REG3A		inserm.fr	GRCh37	2	79385896	79385896	+	splice_acceptor_variant	Splice_Site	SNP	C	A	A			CHC1028T																					ENST00000393878.1:c.77-1G>T		p.X26_splice	ENST00000393878	NM_138938.2			0	not done		possiblydamaging	
ELTD1		inserm.fr	GRCh37	1	79392625	79392625	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000370742.3:c.1029C>T	p.Asn343=	p.N343=	ENST00000370742	NM_022159.3	343	aaC/aaT	0	not done		synonymous	
FRAS1		inserm.fr	GRCh37	4	79403041	79403041	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC432T																					ENST00000264895.6:c.8527C>A	p.Pro2843Thr	p.P2843T	ENST00000264895	NM_025074.6	2843	Cca/Aca	0	not done		probablydamaging	
FRAS1		inserm.fr	GRCh37	4	79403042	79403042	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC432T																					ENST00000264895.6:c.8528C>A	p.Pro2843Gln	p.P2843Q	ENST00000264895	NM_025074.6	2843	cCa/cAa	0	not done		possiblydamaging	
ELTD1		inserm.fr	GRCh37	1	79404889	79404889	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC898T																					ENST00000370742.3:c.380A>T	p.Asn127Ile	p.N127I	ENST00000370742	NM_022159.3	127	aAt/aTt	0	not done		possiblydamaging	
BAHCC1		inserm.fr	GRCh37	17	79409169	79409169	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1629T																					ENST00000307745.7:c.794G>A	p.Gly265Asp	p.G265D	ENST00000307745		265	gGc/gAc	0	not done		possiblydamaging	
BAHCC1		inserm.fr	GRCh37	17	79409306	79409306	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000307745.7:c.931G>A	p.Gly311Ser	p.G311S	ENST00000307745		311	Ggc/Agc	0	not done		benign	
BAHCC1		inserm.fr	GRCh37	17	79409624	79409624	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000307745.7:c.1249G>A	p.Ala417Thr	p.A417T	ENST00000307745		417	Gca/Aca	0	not done		possiblydamaging	
FRAS1		inserm.fr	GRCh37	4	79410201	79410201	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM483T									Valid												ENST00000264895.6:c.8925C>A	p.Asp2975Glu	p.D2975E	ENST00000264895	NM_025074.6	2975	gaC/gaA	0	validated		probablydamaging	
BAHCC1		inserm.fr	GRCh37	17	79410374	79410374	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000307745.7:c.1999G>A	p.Ala667Thr	p.A667T	ENST00000307745		667	Gca/Aca	0	not done		benign	
FRAS1		inserm.fr	GRCh37	4	79418040	79418040	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC794T									Valid												ENST00000264895.6:c.9040C>A	p.Leu3014Ile	p.L3014I	ENST00000264895	NM_025074.6	3014	Ctt/Att	0	validated		probablydamaging	
BAHCC1		inserm.fr	GRCh37	17	79418735	79418735	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000307745.7:c.4018G>A	p.Ala1340Thr	p.A1340T	ENST00000307745		1340	Gcc/Acc	0	not done		probablydamaging	
FRAS1		inserm.fr	GRCh37	4	79430161	79430161	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000264895.6:c.9780+1G>A		p.X3260_splice	ENST00000264895	NM_025074.6			0	not done		damaging	
NANOG		inserm.fr	GRCh37	12	7945763	7945763	+	synonymous_variant	Silent	SNP	G	A	A			BCM501T																					ENST00000229307.4:c.369G>A	p.Gln123=	p.Q123=	ENST00000229307	NM_024865.2	123	caG/caA	0	validated		synonymous	
FRAS1		inserm.fr	GRCh37	4	79461731	79461731	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC155T																					ENST00000264895.6:c.11492G>A	p.Gly3831Asp	p.G3831D	ENST00000264895	NM_025074.6	3831	gGc/gAc	0	validated		probablydamaging	
FSCN2		inserm.fr	GRCh37	17	79495699	79495699	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1041T																					ENST00000334850.7:c.142C>A	p.Leu48Met	p.L48M	ENST00000334850		48	Ctg/Atg	0	validated		probablydamaging	
FSCN2		inserm.fr	GRCh37	17	79495997	79495997	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000334850.7:c.440G>A	p.Ser147Asn	p.S147N	ENST00000334850		147	aGc/aAc	0	not done		probablydamaging	
C17orf70		inserm.fr	GRCh37	17	79512834	79512834	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1616T																					ENST00000327787.8:c.2248G>T	p.Ala750Ser	p.A750S	ENST00000327787		750	Gca/Tca	0	not done		benign	
ANKRD34C		inserm.fr	GRCh37	15	79585781	79585781	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000421388.2:c.155G>A	p.Cys52Tyr	p.C52Y	ENST00000421388	NM_001146341.1	52	tGc/tAc	0	not done		probablydamaging	
OR10A3		inserm.fr	GRCh37	11	7960191	7960191	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC2052T																					ENST00000360759.3:c.877C>T	p.Arg293Ter	p.R293*	ENST00000360759	NM_001003745.1	293	Cga/Tga	0	not done		damaging	
TMED3		inserm.fr	GRCh37	15	79603666	79603666	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1604T																					ENST00000299705.5:c.75C>A	p.Cys25Ter	p.C25*	ENST00000299705	NM_007364.2	25	tgC/tgA	0	not done		damaging	
OR10A3		inserm.fr	GRCh37	11	7960873	7960873	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000360759.3:c.195C>T	p.Asn65=	p.N65=	ENST00000360759	NM_001003745.1	65	aaC/aaT	0	not done		synonymous	
FOXB2		inserm.fr	GRCh37	9	79634967	79634967	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000376708.1:c.397G>A	p.Gly133Arg	p.G133R	ENST00000376708	NM_001013735.1	133	Gga/Aga	0	not done		benign	
FOXB2		inserm.fr	GRCh37	9	79635166	79635166	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1186T																					ENST00000376708.1:c.596C>A	p.Pro199Gln	p.P199Q	ENST00000376708	NM_001013735.1	199	cCg/cAg	0	validated		benign	
FOXB2		inserm.fr	GRCh37	9	79635770	79635770	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000376708.1:c.1200G>A	p.Ala400=	p.A400=	ENST00000376708	NM_001013735.1	400	gcG/gcA	0	not done		synonymous	
SLC25A10		inserm.fr	GRCh37	17	79684431	79684431	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC892T																					ENST00000331531.5:c.537G>A	p.Leu179=	p.L179=	ENST00000331531	NM_001270888.1	179	ctG/ctA	0	not done		synonymous	
NRXN3		inserm.fr	GRCh37	14	79746769	79746769	+	intron_variant	Intron	SNP	C	A	A			CHC1207T																					ENST00000554719.1:c.2144-186795C>A		*715*	ENST00000554719	NM_004796.5			0	not done		synonymous	
KIAA1024		inserm.fr	GRCh37	15	79748666	79748666	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC889T																					ENST00000305428.3:c.177T>A	p.Asn59Lys	p.N59K	ENST00000305428	NM_015206.2	59	aaT/aaA	0	not done		benign	
MAP2K7		inserm.fr	GRCh37	19	7975901	7975901	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC898T																					ENST00000397979.3:c.712G>A	p.Gly238Ser	p.G238S	ENST00000397979	NM_145185.2	238	Ggt/Agt	0	not done		probablydamaging	
BMP2K		inserm.fr	GRCh37	4	79766144	79766144	+	synonymous_variant	Silent	SNP	T	A	A			CHC798T																					ENST00000335016.5:c.609T>A	p.Thr203=	p.T203=	ENST00000335016	NM_198892.1	203	acT/acA	0	validated		synonymous	
GCGR		inserm.fr	GRCh37	17	79770704	79770704	+	synonymous_variant	Silent	SNP	C	A	A			CHC1738T																					ENST00000400723.3:c.1059C>A	p.Thr353=	p.T353=	ENST00000400723	NM_000160.3	353	acC/acA	0	not done		synonymous	
POLR3A		inserm.fr	GRCh37	10	79773455	79773455	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC793T									Valid												ENST00000372371.3:c.1525C>T	p.Leu509Phe	p.L509F	ENST00000372371	NM_007055.3	509	Ctt/Ttt	0	validated		possiblydamaging	
BMP2K		inserm.fr	GRCh37	4	79792029	79792029	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC320T									Valid												ENST00000335016.5:c.1324C>A	p.Gln442Lys	p.Q442K	ENST00000335016	NM_198892.1	442	Cag/Aag	0	validated		probablydamaging	
P4HB		inserm.fr	GRCh37	17	79818278	79818278	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC805T																					ENST00000331483.4:c.70G>T	p.Asp24Tyr	p.D24Y	ENST00000331483	NM_000918.3	24	Gac/Tac	0	not done		probablydamaging	
VPS13A		inserm.fr	GRCh37	9	79820943	79820943	+	synonymous_variant	Silent	SNP	G	A	A			CHC1566T																					ENST00000360280.3:c.333G>A	p.Lys111=	p.K111=	ENST00000360280	NM_033305.2	111	aaG/aaA	0	not done		synonymous	
SLC2A14		inserm.fr	GRCh37	12	7982502	7982502	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM439T																					ENST00000543909.1:c.442C>T	p.Arg148Cys	p.R148C	ENST00000543909	NM_001286233.1	148	Cgc/Tgc	0	validated		probablydamaging	
ALOX12B		inserm.fr	GRCh37	17	7982728	7982728	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1566T																					ENST00000319144.4:c.1057C>T	p.Pro353Ser	p.P353S	ENST00000319144	NM_001139.2	353	Ccc/Tcc	0	not done		probablydamaging	
ARHGDIA		inserm.fr	GRCh37	17	79827422	79827422	+	synonymous_variant	Silent	SNP	C	A	A			BCM617T																					ENST00000269321.7:c.270G>T	p.Leu90=	p.L90=	ENST00000269321	NM_001185078.1	90	ctG/ctT	0	validated		synonymous	
ARHGDIA		inserm.fr	GRCh37	17	79827777	79827777	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1744T																					ENST00000269321.7:c.30G>T	p.Gln10His	p.Q10H	ENST00000269321	NM_001185078.1	10	caG/caT	0	not done		possiblydamaging	
BMP2K		inserm.fr	GRCh37	4	79832445	79832445	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1763T																					ENST00000335016.5:c.2744T>A	p.Val915Glu	p.V915E	ENST00000335016	NM_198892.1	915	gTg/gAg	0	not done		benign	
SYT1		inserm.fr	GRCh37	12	79842881	79842881	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC736T																					ENST00000261205.4:c.1246G>A	p.Ala416Thr	p.A416T	ENST00000261205	NM_005639.2	416	Gcc/Acc	0	validated		benign	
CTNNA2		inserm.fr	GRCh37	2	79878759	79878759	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1028T																					ENST00000466387.1:c.77G>A	p.Arg26Lys	p.R26K	ENST00000466387		26	aGg/aAg	0	not done		benign	
BRWD3		inserm.fr	GRCh37	X	79939570	79939570	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC313T									Valid												ENST00000373275.4:c.4172A>T	p.Tyr1391Phe	p.Y1391F	ENST00000373275	NM_153252.4	1391	tAt/tTt	0	validated		possiblydamaging	
RBM26		inserm.fr	GRCh37	13	79952928	79952928	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1183T																					ENST00000267229.7:c.186G>T	p.Gln62His	p.Q62H	ENST00000267229	NM_022118.3	62	caG/caT	0	not done		probablydamaging	
ASPSCR1		inserm.fr	GRCh37	17	79954434	79954434	+	synonymous_variant	Silent	SNP	G	A	A			BCM501T																					ENST00000306729.7:c.645G>A	p.Pro215=	p.P215=	ENST00000306729	NM_001251888.1	215	ccG/ccA	0	validated		synonymous	
TNFRSF9		inserm.fr	GRCh37	1	7998359	7998359	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000377507.3:c.240C>T	p.Ser80=	p.S80=	ENST00000377507	NM_001561.5	80	tcC/tcT	0	not done		synonymous	
VPS13A		inserm.fr	GRCh37	9	80020879	80020879	+	synonymous_variant	Silent	SNP	G	A	A			CHC1591T																					ENST00000360280.3:c.9375G>A	p.Gly3125=	p.G3125=	ENST00000360280	NM_033305.2	3125	ggG/ggA	0	not done		synonymous	
FASN		inserm.fr	GRCh37	17	80038282	80038282	+	synonymous_variant	Silent	SNP	G	A	A			CHC155T																					ENST00000306749.2:c.7011C>T	p.Phe2337=	p.F2337=	ENST00000306749	NM_004104.4	2337	ttC/ttT	0	validated		synonymous	
FASN		inserm.fr	GRCh37	17	80038696	80038696	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1743T																					ENST00000306749.2:c.6698G>T	p.Arg2233Leu	p.R2233L	ENST00000306749	NM_004104.4	2233	cGg/cTg	0	not done		benign	
FASN		inserm.fr	GRCh37	17	80040430	80040430	+	synonymous_variant	Silent	SNP	G	A	A			CHC1736T																					ENST00000306749.2:c.5892C>T	p.Pro1964=	p.P1964=	ENST00000306749	NM_004104.4	1964	ccC/ccT	0	not done		synonymous	
FASN		inserm.fr	GRCh37	17	80042999	80042999	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC805T																					ENST00000306749.2:c.4321G>T	p.Val1441Leu	p.V1441L	ENST00000306749	NM_004104.4	1441	Gtg/Ttg	0	validated		probablydamaging	
FASN		inserm.fr	GRCh37	17	80054241	80054241	+	synonymous_variant	Silent	SNP	G	A	A			CHC2128T																					ENST00000306749.2:c.81C>T	p.Ile27=	p.I27=	ENST00000306749	NM_004104.4	27	atC/atT	0	not done		synonymous	
TAF3		inserm.fr	GRCh37	10	8006086	8006086	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC326T									Valid												ENST00000344293.5:c.613C>A	p.Leu205Ile	p.L205I	ENST00000344293	NM_031923.3	205	Cta/Ata	0	validated		benign	
ALOXE3		inserm.fr	GRCh37	17	8006780	8006780	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000318227.3:c.2213C>T	p.Pro738Leu	p.P738L	ENST00000318227	NM_001165960.1	738	cCa/cTa	0	not done		probablydamaging	
CCDC57		inserm.fr	GRCh37	17	80153217	80153217	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000392343.3:c.540G>T	p.Ser180=	p.S180=	ENST00000392343		180	tcG/tcT	0	not done		synonymous	
MTHFS		inserm.fr	GRCh37	15	80181570	80181570	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1053T									Valid												ENST00000258874.3:c.244C>T	p.Arg82Trp	p.R82W	ENST00000258874	NM_006441.3	82	Cgg/Tgg	0	validated		probablydamaging	
MTHFS		inserm.fr	GRCh37	15	80181683	80181683	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC451T																					ENST00000258874.3:c.131G>T	p.Ser44Ile	p.S44I	ENST00000258874	NM_006441.3	44	aGt/aTt	0	validated		possiblydamaging	
LCA5		inserm.fr	GRCh37	6	80223315	80223315	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1192T																					ENST00000392959.1:c.334A>T	p.Ile112Phe	p.I112F	ENST00000392959	NM_181714.3	112	Atc/Ttc	0	not done		probablydamaging	
PPP1R12A		inserm.fr	GRCh37	12	80266606	80266606	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC302T									Valid												ENST00000450142.2:c.350G>T	p.Gly117Val	p.G117V	ENST00000450142	NM_002480.2	117	gGa/gTa	0	validated		probablydamaging	
SECTM1		inserm.fr	GRCh37	17	80280814	80280814	+	synonymous_variant	Silent	SNP	G	A	A			CHC155T																					ENST00000269389.3:c.477C>T	p.Leu159=	p.L159=	ENST00000269389	NM_003004.2	159	ctC/ctT	0	validated		synonymous	
TEX19		inserm.fr	GRCh37	17	80320322	80320322	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000333437.4:c.296G>A	p.Gly99Glu	p.G99E	ENST00000333437	NM_207459.3	99	gGg/gAg	0	not done		benign	
SEMA3C		inserm.fr	GRCh37	7	80387702	80387702	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC303T																					ENST00000265361.3:c.1588C>T	p.Pro530Ser	p.P530S	ENST00000265361	NM_006379.3	530	Cct/Tct	0	validated		probablydamaging	
SEMA3C		inserm.fr	GRCh37	7	80418702	80418702	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000265361.3:c.1274C>T	p.Thr425Ile	p.T425I	ENST00000265361	NM_006379.3	425	aCt/aTt	0	not done		benign	
NARF		inserm.fr	GRCh37	17	80445974	80445974	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1191T																					ENST00000309794.11:c.1312C>A	p.Leu438Met	p.L438M	ENST00000309794	NM_031968.2	438	Ctg/Atg	0	not done		probablydamaging	
LRRTM1		inserm.fr	GRCh37	2	80530783	80530783	+	synonymous_variant	Silent	SNP	C	A	A			CHC1534T																					ENST00000295057.3:c.162G>T	p.Ala54=	p.A54=	ENST00000295057	NM_178839.4	54	gcG/gcT	0	validated		synonymous	
CKMT2		inserm.fr	GRCh37	5	80552818	80552818	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	A	A			CHC703T																					ENST00000424301.2:c.754T>A	p.Trp252Arg	p.W252R	ENST00000424301	NM_001825.2	252	Tgg/Agg	0	validated		probablydamaging	
OTOGL		inserm.fr	GRCh37	12	80615989	80615989	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000458043.2:c.426G>A	p.Lys142=	p.K142=	ENST00000458043	NM_173591.3	142	aaG/aaA	0	not done		synonymous	
GNAQ		inserm.fr	GRCh37	9	80646047	80646047	+	synonymous_variant	Silent	SNP	G	A	A			CHC429T																					ENST00000286548.4:c.105C>T	p.Asp35=	p.D35=	ENST00000286548	NM_002072.3	35	gaC/gaT	0	validated		synonymous	
OTOGL		inserm.fr	GRCh37	12	80647256	80647256	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000458043.2:c.1269G>A	p.Met423Ile	p.M423I	ENST00000458043	NM_173591.3	423	atG/atA	0	not done			
RAB40B		inserm.fr	GRCh37	17	80656451	80656451	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1192T																					ENST00000571995.1:c.22G>T	p.Val8Phe	p.V8F	ENST00000571995	NM_006822.2	8	Gtc/Ttc	0	validated		benign	
FN3K		inserm.fr	GRCh37	17	80696371	80696371	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC805T																					ENST00000300784.7:c.148C>A	p.Gln50Lys	p.Q50K	ENST00000300784	NM_022158.3	50	Cag/Aag	0	not done		benign	
TTK		inserm.fr	GRCh37	6	80717675	80717675	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC896T																					ENST00000369798.2:c.289G>A	p.Ala97Thr	p.A97T	ENST00000369798	NM_003318.4	97	Gcg/Acg	0	not done		benign	
CDYL2		inserm.fr	GRCh37	16	80718799	80718799	+	synonymous_variant	Silent	SNP	C	A	A			CHC429T																					ENST00000570137.2:c.252G>T	p.Pro84=	p.P84=	ENST00000570137	NM_152342.2	84	ccG/ccT	0	validated		synonymous	
OTOGL		inserm.fr	GRCh37	12	80730246	80730246	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000458043.2:c.4627G>A	p.Ala1543Thr	p.A1543T	ENST00000458043	NM_173591.3	1543	Gca/Aca	0	not done			
TTK		inserm.fr	GRCh37	6	80732114	80732114	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000369798.2:c.1182G>A	p.Glu394=	p.E394=	ENST00000369798	NM_003318.4	394	gaG/gaA	0	not done		synonymous	
TTK		inserm.fr	GRCh37	6	80741250	80741250	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2211T																					ENST00000369798.2:c.1588C>A	p.Gln530Lys	p.Q530K	ENST00000369798	NM_003318.4	530	Cag/Aag	0	validated		benign	
OTOGL		inserm.fr	GRCh37	12	80749515	80749515	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000458043.2:c.5567-1G>A		p.X1856_splice	ENST00000458043	NM_173591.3			0	not done		damaging	
OTOGL		inserm.fr	GRCh37	12	80770966	80770966	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000458043.2:c.6818G>A	p.Cys2273Tyr	p.C2273Y	ENST00000458043	NM_173591.3	2273	tGt/tAt	0	not done			
ZNF750		inserm.fr	GRCh37	17	80789518	80789518	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000269394.3:c.813C>T	p.Pro271=	p.P271=	ENST00000269394	NM_024702.2	271	ccC/ccT	0	not done		synonymous	
ZNF750		inserm.fr	GRCh37	17	80789814	80789814	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000269394.3:c.517C>T	p.Pro173Ser	p.P173S	ENST00000269394	NM_024702.2	173	Cca/Tca	0	not done		possiblydamaging	
CTNNA2		inserm.fr	GRCh37	2	80801358	80801358	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC433T																					ENST00000466387.1:c.1812T>A	p.Phe604Leu	p.F604L	ENST00000466387		604	ttT/ttA	0	validated		benign	
AC005008.2		inserm.fr	GRCh37	7	80805199	80805199	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000431501.1:c.70-1G>A		p.X24_splice	ENST00000431501				0	not done		damaging	
TBCD		inserm.fr	GRCh37	17	80867167	80867167	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2029T																					ENST00000355528.4:c.1990G>A	p.Asp664Asn	p.D664N	ENST00000355528	NM_005993.4	664	Gat/Aat	0	not done		benign	
SPRY2		inserm.fr	GRCh37	13	80911086	80911086	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC796T									Valid												ENST00000377102.1:c.755G>T	p.Arg252Leu	p.R252L	ENST00000377102		252	cGa/cTa	0	validated		probablydamaging	
METRNL		inserm.fr	GRCh37	17	81052020	81052020	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000320095.7:c.636G>A	p.Gln212=	p.Q212=	ENST00000320095	NM_001004431.1	212	caG/caA	0	not done		synonymous	
ZMIZ1		inserm.fr	GRCh37	10	81063825	81063825	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1040T																					ENST00000334512.5:c.2179G>A	p.Gly727Arg	p.G727R	ENST00000334512	NM_020338.3	727	Ggg/Agg	0	not done		probablydamaging	
PTPRQ		inserm.fr	GRCh37	12	81064167	81064167	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000266688.5:c.6486G>A	p.Trp2162Ter	p.W2162*	ENST00000266688		2162	tgG/tgA	0	not done		damaging	
ABLIM2		inserm.fr	GRCh37	4	8108337	8108337	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000447017.2:c.38C>T	p.Pro13Leu	p.P13L	ENST00000447017	NM_001130083.1	13	cCg/cTg	0	not done		benign	
PRDM8		inserm.fr	GRCh37	4	81121402	81121402	+	synonymous_variant	Silent	SNP	T	A	A			CHC703T																					ENST00000339711.4:c.168T>A	p.Ala56=	p.A56=	ENST00000339711	NM_020226.3	56	gcT/gcA	0	not done		synonymous	
PRDM8		inserm.fr	GRCh37	4	81123440	81123440	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1211T																					ENST00000339711.4:c.824G>A	p.Ser275Asn	p.S275N	ENST00000339711	NM_020226.3	275	aGc/aAc	0	not done		benign	
PKD1L2		inserm.fr	GRCh37	16	81183401	81183401	+	synonymous_variant	Silent	SNP	G	A	A			CHC205T																					ENST00000525539.1:c.4647C>T	p.Arg1549=	p.R1549=	ENST00000525539	NM_052892.3	1549	cgC/cgT	0	validated		synonymous	
PKD1L2		inserm.fr	GRCh37	16	81194479	81194479	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000525539.1:c.3509G>T	p.Ser1170Ile	p.S1170I	ENST00000525539	NM_052892.3	1170	aGc/aTc	0	not done		benign	
FGF5		inserm.fr	GRCh37	4	81196085	81196085	+	synonymous_variant	Silent	SNP	G	A	A			CHC1055T																					ENST00000312465.7:c.378G>A	p.Val126=	p.V126=	ENST00000312465	NM_004464.3	126	gtG/gtA	0	validated		synonymous	
KIAA1199		inserm.fr	GRCh37	15	81221250	81221250	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1720T																					ENST00000394685.3:c.2428G>A	p.Asp810Asn	p.D810N	ENST00000394685		810	Gac/Aac	0	not done		probablydamaging	
CEP128		inserm.fr	GRCh37	14	81259343	81259343	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM371T																					ENST00000555265.1:c.1321G>T	p.Asp441Tyr	p.D441Y	ENST00000555265		441	Gac/Tac	0	validated		possiblydamaging	
MESDC2		inserm.fr	GRCh37	15	81282126	81282126	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000261758.4:c.7G>T	p.Ala3Ser	p.A3S	ENST00000261758	NM_015154.1	3	Gct/Tct	0	not done		probablydamaging	
CTC1		inserm.fr	GRCh37	17	8132196	8132196	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2029T																					ENST00000315684.8:c.3236A>T	p.Asp1079Val	p.D1079V	ENST00000315684	NM_025099.5	1079	gAt/gTt	0	not done		probablydamaging	
HGF		inserm.fr	GRCh37	7	81332001	81332001	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC614T									Valid												ENST00000222390.5:c.2083C>T	p.Arg695Cys	p.R695C	ENST00000222390	NM_000601.4	695	Cgt/Tgt	0	validated		probablydamaging	
LPPR3		inserm.fr	GRCh37	19	813439	813439	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM723T																					ENST00000359894.2:c.1372G>T	p.Gly458Trp	p.G458W	ENST00000359894	NM_024888.2	458	Ggg/Tgg	0	validated		probablydamaging	
CEP128		inserm.fr	GRCh37	14	81382778	81382778	+	synonymous_variant	Silent	SNP	G	A	A			CHC314T																					ENST00000555265.1:c.114C>T	p.Thr38=	p.T38=	ENST00000555265		38	acC/acT	0	validated		synonymous	
HGF		inserm.fr	GRCh37	7	81386532	81386532	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1708T																					ENST00000222390.5:c.455G>T	p.Trp152Leu	p.W152L	ENST00000222390	NM_000601.4	152	tGg/tTg	0	not done		probablydamaging	
HGF		inserm.fr	GRCh37	7	81392129	81392129	+	synonymous_variant	Silent	SNP	G	A	A			CHC2200T																					ENST00000222390.5:c.148C>T	p.Leu50=	p.L50=	ENST00000222390	NM_000601.4	50	Cta/Tta	0	not done		synonymous	
ACSS3		inserm.fr	GRCh37	12	81503480	81503480	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000548058.1:c.453G>A	p.Glu151=	p.E151=	ENST00000548058		151	gaG/gaA	0	not done		synonymous	
CACNA2D1		inserm.fr	GRCh37	7	81589103	81589103	+	synonymous_variant	Silent	SNP	G	A	A			CHC1751T																					ENST00000356860.3:c.3009C>T	p.Phe1003=	p.F1003=	ENST00000356860	NM_000722.2	1003	ttC/ttT	0	not done		synonymous	
CACNA2D1		inserm.fr	GRCh37	7	81591285	81591285	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000356860.3:c.2891C>T	p.Thr964Ile	p.T964I	ENST00000356860	NM_000722.2	964	aCt/aTt	0	not done		possiblydamaging	
ZNF704		inserm.fr	GRCh37	8	81599584	81599584	+	synonymous_variant	Silent	SNP	C	A	A			CHC1754T																					ENST00000327835.3:c.435G>T	p.Pro145=	p.P145=	ENST00000327835	NM_001033723.2	145	ccG/ccT	0	not done		synonymous	
ATP6AP1L		inserm.fr	GRCh37	5	81613868	81613868	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1747T																					ENST00000380167.4:c.424G>A	p.Ala142Thr	p.A142T	ENST00000380167		142	Gcc/Acc	0	not done		benign	
GBE1		inserm.fr	GRCh37	3	81640235	81640235	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCB167T																					ENST00000429644.2:c.1189A>T	p.Asn397Tyr	p.N397Y	ENST00000429644	NM_000158.3	397	Aat/Tat	0	validated		probablydamaging	
PFAS		inserm.fr	GRCh37	17	8172464	8172464	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000314666.6:c.3899G>A	p.Arg1300Gln	p.R1300Q	ENST00000314666	NM_012393.2	1300	cGg/cAg	0	not done		probablydamaging	
C4orf22		inserm.fr	GRCh37	4	81791204	81791204	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1592T																					ENST00000508675.1:c.442G>A	p.Asp148Asn	p.D148N	ENST00000508675	NM_001206997.1	148	Gac/Aac	0	not done		probablydamaging	
FBN3		inserm.fr	GRCh37	19	8191692	8191692	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1611T																					ENST00000600128.1:c.2321C>T	p.Pro774Leu	p.P774L	ENST00000600128		774	cCg/cTg	0	not done		probablydamaging	
BMP3		inserm.fr	GRCh37	4	81952573	81952573	+	synonymous_variant	Silent	SNP	C	A	A			CHC1749T																					ENST00000282701.2:c.135C>A	p.Gly45=	p.G45=	ENST00000282701	NM_001201.2	45	ggC/ggA	0	not done		synonymous	
PLCG2		inserm.fr	GRCh37	16	81954820	81954820	+	synonymous_variant	Silent	SNP	C	A	A			BCM723T																					ENST00000359376.3:c.2253C>A	p.Ser751=	p.S751=	ENST00000359376	NM_002661.3	751	tcC/tcA	0	validated		synonymous	
PLCG2		inserm.fr	GRCh37	16	81965165	81965165	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359376.3:c.2645G>A	p.Gly882Asp	p.G882D	ENST00000359376	NM_002661.3	882	gGc/gAc	0	not done		benign	
PLCG2		inserm.fr	GRCh37	16	81969896	81969896	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359376.3:c.2965G>A	p.Gly989Arg	p.G989R	ENST00000359376	NM_002661.3	989	Gga/Aga	0	not done		probablydamaging	
CACNA2D1		inserm.fr	GRCh37	7	81978909	81978909	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000356860.3:c.152C>T	p.Ala51Val	p.A51V	ENST00000356860	NM_000722.2	51	gCa/gTa	0	validated		benign	
FOXJ2		inserm.fr	GRCh37	12	8200860	8200860	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000162391.3:c.1200G>A	p.Gln400=	p.Q400=	ENST00000162391	NM_018416.2	400	caG/caA	0	not done		synonymous	
FBN3		inserm.fr	GRCh37	19	8203097	8203097	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000600128.1:c.1129C>T	p.Pro377Ser	p.P377S	ENST00000600128		377	Cca/Tca	0	validated		benign	
MAT1A		inserm.fr	GRCh37	10	82033620	82033620	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000372213.3:c.1105C>T	p.Pro369Ser	p.P369S	ENST00000372213	NM_000429.2	369	Ccc/Tcc	0	not done		possiblydamaging	
ARHGEF15		inserm.fr	GRCh37	17	8218435	8218435	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1098T																					ENST00000361926.3:c.1100G>A	p.Gly367Glu	p.G367E	ENST00000361926	NM_173728.3	367	gGg/gAg	0	validated		probablydamaging	
TLE4		inserm.fr	GRCh37	9	82189839	82189839	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000376552.2:c.195G>A	p.Arg65=	p.R65=	ENST00000376552	NM_007005.3	65	cgG/cgA	0	not done		synonymous	
FABP5		inserm.fr	GRCh37	8	82195774	82195774	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000297258.6:c.252+1G>A		p.X84_splice	ENST00000297258	NM_001444.2			0	not done		damaging	
SH3TC1		inserm.fr	GRCh37	4	8221185	8221185	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000245105.3:c.1040G>A	p.Gly347Asp	p.G347D	ENST00000245105	NM_018986.3	347	gGc/gAc	0	not done		probablydamaging	
TSPAN14		inserm.fr	GRCh37	10	82267055	82267055	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000429989.3:c.204G>A	p.Val68=	p.V68=	ENST00000429989	NM_030927.2	68	gtG/gtA	0	not done		synonymous	
SH2D4B		inserm.fr	GRCh37	10	82331186	82331186	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC798T									Valid												ENST00000339284.2:c.348-1G>A		p.X116_splice	ENST00000339284	NM_207372.2			0	validated		damaging	
MEX3B		inserm.fr	GRCh37	15	82335515	82335515	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000329713.4:c.1696C>T	p.Arg566Cys	p.R566C	ENST00000329713	NM_032246.4	566	Cgc/Tgc	0	not done		probablydamaging	
PRAG1		inserm.fr	GRCh37	8	8234311	8234311	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000520004.1:c.1608C>T	p.Pro536=	p.P536=	ENST00000520004		536	ccC/ccT	0	not done		synonymous	
TMEM167A		inserm.fr	GRCh37	5	82352966	82352966	+	synonymous_variant	Silent	SNP	C	A	A			CHC1754T																					ENST00000502346.1:c.156G>T	p.Arg52=	p.R52=	ENST00000502346	NM_174909.4	52	cgG/cgT	0	not done		synonymous	
PCLO		inserm.fr	GRCh37	7	82435035	82435035	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000333891.9:c.14902G>T	p.Gly4968Trp	p.G4968W	ENST00000333891	NM_033026.5	4968	Ggg/Tgg	0	not done		probablydamaging	
PCLO		inserm.fr	GRCh37	7	82453713	82453713	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000333891.9:c.14435G>T	p.Ser4812Ile	p.S4812I	ENST00000333891	NM_033026.5	4812	aGc/aTc	0	validated		probablydamaging	
PCLO		inserm.fr	GRCh37	7	82475938	82475938	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1597T																					ENST00000333891.9:c.13776G>T	p.Met4592Ile	p.M4592I	ENST00000333891	NM_033026.5	4592	atG/atT	0	validated		benign	
PCLO		inserm.fr	GRCh37	7	82544872	82544872	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM399T									Valid												ENST00000333891.9:c.12430G>T	p.Gly4144Cys	p.G4144C	ENST00000333891	NM_033026.5	4144	Ggt/Tgt	0	validated		probablydamaging	
PCLO		inserm.fr	GRCh37	7	82545675	82545675	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM375T									Valid												ENST00000333891.9:c.11627C>T	p.Ser3876Phe	p.S3876F	ENST00000333891	NM_033026.5	3876	tCt/tTt	0	validated		possiblydamaging	
MSLNL		inserm.fr	GRCh37	16	825562	825562	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC884T									Valid												ENST00000293892.3:c.1199G>T	p.Arg400Met	p.R400M	ENST00000293892		400	aGg/aTg	0	validated			
FAM154B		inserm.fr	GRCh37	15	82574958	82574958	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000339465.5:c.752G>A	p.Ser251Asn	p.S251N	ENST00000339465	NM_001008226.1	251	aGc/aAc	0	not done		possiblydamaging	
PCLO		inserm.fr	GRCh37	7	82579230	82579230	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC433T									Valid												ENST00000333891.9:c.10674G>T	p.Lys3558Asn	p.K3558N	ENST00000333891	NM_033026.5	3558	aaG/aaT	0	validated		possiblydamaging	
PCLO		inserm.fr	GRCh37	7	82582213	82582213	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1079T																					ENST00000333891.9:c.8056G>T	p.Ala2686Ser	p.A2686S	ENST00000333891	NM_033026.5	2686	Gct/Tct	0	not done		benign	
SLC10A5		inserm.fr	GRCh37	8	82606309	82606309	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM397T																					ENST00000518568.1:c.899G>T	p.Ser300Ile	p.S300I	ENST00000518568	NM_001010893.2	300	aGc/aTc	0	validated		benign	
FAM110A		inserm.fr	GRCh37	20	826101	826101	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000304189.2:c.654G>A	p.Gly218=	p.G218=	ENST00000304189		218	ggG/ggA	0	not done		synonymous	
RAB30		inserm.fr	GRCh37	11	82698772	82698772	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1746T																					ENST00000533486.1:c.218C>T	p.Ser73Phe	p.S73F	ENST00000533486	NM_014488.3	73	tCc/tTc	0	not done		probablydamaging	
SNX16		inserm.fr	GRCh37	8	82741733	82741733	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			BCM375T									Valid												ENST00000396330.2:c.394A>T	p.Lys132Ter	p.K132*	ENST00000396330	NM_022133.3	132	Aag/Tag	0	validated		damaging	
POU3F4		inserm.fr	GRCh37	X	82763915	82763915	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1530T																					ENST00000373200.2:c.583G>A	p.Glu195Lys	p.E195K	ENST00000373200	NM_000307.4	195	Gaa/Aaa	0	not done		probablydamaging	
POU3F4		inserm.fr	GRCh37	X	82764262	82764262	+	synonymous_variant	Silent	SNP	G	A	A			CHC429T																					ENST00000373200.2:c.930G>A	p.Ser310=	p.S310=	ENST00000373200	NM_000307.4	310	tcG/tcA	0	validated		synonymous	
VCAN		inserm.fr	GRCh37	5	82779408	82779408	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC314T									Valid												ENST00000265077.3:c.70+1G>A		p.X24_splice	ENST00000265077	NM_004385.4			0	validated		damaging	
VCAN		inserm.fr	GRCh37	5	82789385	82789385	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000265077.3:c.466G>A	p.Ala156Thr	p.A156T	ENST00000265077	NM_004385.4	156	Gcg/Acg	0	not done		probablydamaging	
VCAN		inserm.fr	GRCh37	5	82816918	82816918	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000265077.3:c.2793G>A	p.Val931=	p.V931=	ENST00000265077	NM_004385.4	931	gtG/gtA	0	not done		synonymous	
VCAN		inserm.fr	GRCh37	5	82832912	82832912	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1611T																					ENST00000265077.3:c.4090G>A	p.Val1364Met	p.V1364M	ENST00000265077	NM_004385.4	1364	Gtg/Atg	0	not done		benign	
VCAN		inserm.fr	GRCh37	5	82837731	82837731	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000265077.3:c.8909G>A	p.Gly2970Asp	p.G2970D	ENST00000265077	NM_004385.4	2970	gGt/gAt	0	not done		benign	
HAPLN1		inserm.fr	GRCh37	5	82937570	82937570	+	synonymous_variant	Silent	SNP	C	A	A			CHC1601T																					ENST00000274341.4:c.810G>T	p.Leu270=	p.L270=	ENST00000274341	NM_001884.3	270	ctG/ctT	0	not done		synonymous	
HAPLN1		inserm.fr	GRCh37	5	82948633	82948633	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000274341.4:c.111C>T	p.Gly37=	p.G37=	ENST00000274341	NM_001884.3	37	ggC/ggT	0	validated		synonymous	
SEMA3E		inserm.fr	GRCh37	7	83035340	83035340	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC121T									Valid												ENST00000307792.3:c.849G>T	p.Lys283Asn	p.K283N	ENST00000307792	NM_012431.2	283	aaG/aaT	0	validated		probablydamaging	
AZU1		inserm.fr	GRCh37	19	830889	830889	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM397T																					ENST00000233997.2:c.542G>A	p.Arg181His	p.R181H	ENST00000233997	NM_001700.3	181	cGc/cAc	0	validated		probablydamaging	
SEMA3E		inserm.fr	GRCh37	7	83119517	83119517	+	synonymous_variant	Silent	SNP	C	A	A			CHC1754T																					ENST00000307792.3:c.189G>T	p.Leu63=	p.L63=	ENST00000307792	NM_012431.2	63	ctG/ctT	0	not done		synonymous	
CPEB1		inserm.fr	GRCh37	15	83218342	83218342	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000562833.1:c.471C>T	p.Pro158Ser	p.P158S	ENST00000562833		158	Ccc/Tcc	0	not done		benign	
CPEB1		inserm.fr	GRCh37	15	83226687	83226687	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000568128.1:c.429C>T	p.Pro143=	p.P143=	ENST00000568128	NM_030594.3	143	ccC/ccT	0	not done		synonymous	
EDIL3		inserm.fr	GRCh37	5	83259061	83259061	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC909T																					ENST00000296591.5:c.1256G>T	p.Trp419Leu	p.W419L	ENST00000296591	NM_005711.4	419	tGg/tTg	0	not done		probablydamaging	
PTPRD		inserm.fr	GRCh37	9	8331584	8331584	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			BCM791T																					ENST00000356435.5:c.5532C>T	p.Cys1844=	p.C1844=	ENST00000356435		1844	tgC/tgT	0	validated		synonymous	
AP3B2		inserm.fr	GRCh37	15	83346112	83346112	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1720T																					ENST00000261722.3:c.1402G>T	p.Val468Phe	p.V468F	ENST00000261722	NM_004644.4	468	Gtc/Ttc	0	not done		probablydamaging	
PTPRD		inserm.fr	GRCh37	9	8339024	8339024	+	synonymous_variant	Silent	SNP	T	A	A			CHC2215T																					ENST00000356435.5:c.5277A>T	p.Pro1759=	p.P1759=	ENST00000356435		1759	ccA/ccT	0	not done		synonymous	
RPS6KA6		inserm.fr	GRCh37	X	83400556	83400556	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2321T																					ENST00000262752.2:c.431C>T	p.Thr144Ile	p.T144I	ENST00000262752	NM_014496.4	144	aCt/aTt	0	validated		probablydamaging	
FSD2		inserm.fr	GRCh37	15	83455533	83455533	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000334574.8:c.610C>T	p.Pro204Ser	p.P204S	ENST00000334574		204	Cca/Tca	0	not done		possiblydamaging	
WHAMM		inserm.fr	GRCh37	15	83488201	83488201	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2115T																					ENST00000286760.4:c.1231C>A	p.Leu411Ile	p.L411I	ENST00000286760	NM_001080435.1	411	Ctt/Att	0	validated		probablydamaging	
HDX		inserm.fr	GRCh37	X	83599258	83599258	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	A	A			CHC433T									Valid												ENST00000297977.5:c.1660G>T	p.Glu554Ter	p.E554*	ENST00000297977	NM_001177479.1	554	Gaa/Taa	0	validated		damaging	
FAM103A1		inserm.fr	GRCh37	15	83657917	83657917	+	synonymous_variant	Silent	SNP	G	A	A			CHC1611T																					ENST00000304191.3:c.147G>A	p.Gly49=	p.G49=	ENST00000304191	NM_031452.3	49	ggG/ggA	0	not done		synonymous	
HDX		inserm.fr	GRCh37	X	83723884	83723884	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000297977.5:c.847C>T	p.Pro283Ser	p.P283S	ENST00000297977	NM_001177479.1	283	Cca/Tca	0	not done		benign	
TM6SF1		inserm.fr	GRCh37	15	83791508	83791508	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000322019.9:c.482-1G>A		p.X161_splice	ENST00000322019				0	not done		damaging	
DOPEY1		inserm.fr	GRCh37	6	83806814	83806814	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T									Valid												ENST00000349129.2:c.118G>A	p.Ala40Thr	p.A40T	ENST00000349129	NM_015018.3	40	Gca/Aca	0	validated		possiblydamaging	
PGM3		inserm.fr	GRCh37	6	83884205	83884205	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC794T																					ENST00000506587.1:c.1214C>T	p.Ala405Val	p.A405V	ENST00000506587	NM_001199917.1	405	gCa/gTa	0	validated		damaging	
BNC1		inserm.fr	GRCh37	15	83931980	83931980	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1749T																					ENST00000345382.2:c.2023C>T	p.Gln675Ter	p.Q675*	ENST00000345382	NM_001717.3	675	Cag/Tag	0	not done		damaging	
BNC1		inserm.fr	GRCh37	15	83932842	83932842	+	synonymous_variant	Silent	SNP	G	A	A			CHC1531T																					ENST00000345382.2:c.1161C>T	p.Cys387=	p.C387=	ENST00000345382	NM_001717.3	387	tgC/tgT	0	not done		synonymous	
BNC1		inserm.fr	GRCh37	15	83933149	83933149	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000345382.2:c.854C>T	p.Pro285Leu	p.P285L	ENST00000345382	NM_001717.3	285	cCt/cTt	0	not done		benign	
ACOX3		inserm.fr	GRCh37	4	8394156	8394156	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2029T																					ENST00000356406.5:c.1204G>T	p.Ala402Ser	p.A402S	ENST00000356406	NM_003501.2	402	Gcc/Tcc	0	not done		probablydamaging	
COPS4		inserm.fr	GRCh37	4	83978232	83978232	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC2048T																					ENST00000264389.2:c.564G>A	p.Lys188=	p.K188=	ENST00000264389	NM_016129.2	188	aaG/aaA	0	not done		damaging	
KANK3		inserm.fr	GRCh37	19	8399407	8399407	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC898T																					ENST00000330915.3:c.1304G>T	p.Gly435Val	p.G435V	ENST00000330915	NM_198471.2	435	gGa/gTa	0	not done		benign	
OSGIN1		inserm.fr	GRCh37	16	83999304	83999304	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM695T																					ENST00000361711.3:c.1126G>A	p.Val376Met	p.V376M	ENST00000361711		376	Gtg/Atg	0	validated		probablydamaging	
KANK3		inserm.fr	GRCh37	19	8400500	8400500	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000330915.3:c.211C>T	p.Arg71Cys	p.R71C	ENST00000330915	NM_198471.2	71	Cgc/Tgc	0	validated		possiblydamaging	
NECAB2		inserm.fr	GRCh37	16	84005766	84005766	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000305202.4:c.212G>A	p.Arg71His	p.R71H	ENST00000305202	NM_019065.2	71	cGt/cAt	0	not done		probablydamaging	
SLC38A8		inserm.fr	GRCh37	16	84050762	84050762	+	synonymous_variant	Silent	SNP	G	A	A			BCM711T																					ENST00000299709.3:c.936C>T	p.Ile312=	p.I312=	ENST00000299709	NM_001080442.1	312	atC/atT	0	validated		synonymous	
PRTN3		inserm.fr	GRCh37	19	841067	841067	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000234347.5:c.59G>A	p.Ser20Asn	p.S20N	ENST00000234347	NM_002777.3	20	aGc/aAc	0	not done		benign	
HSDL1		inserm.fr	GRCh37	16	84163781	84163781	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2098T																					ENST00000219439.4:c.476C>T	p.Pro159Leu	p.P159L	ENST00000219439	NM_001146051.1	159	cCg/cTg	0	not done		possiblydamaging	
DNAAF1		inserm.fr	GRCh37	16	84183892	84183892	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000378553.5:c.297G>A	p.Gln99=	p.Q99=	ENST00000378553	NM_178452.4	99	caG/caA	0	not done		synonymous	
DMRT1		inserm.fr	GRCh37	9	841966	841966	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000382276.3:c.128G>A	p.Ser43Asn	p.S43N	ENST00000382276	NM_021951.2	43	aGc/aAc	0	not done		benign	
DNAAF1		inserm.fr	GRCh37	16	84199546	84199546	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC703T																					ENST00000378553.5:c.1021C>A	p.Gln341Lys	p.Q341K	ENST00000378553	NM_178452.4	341	Caa/Aaa	0	validated		possiblydamaging	
RERE		inserm.fr	GRCh37	1	8420349	8420349	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000337907.3:c.3218C>T	p.Ala1073Val	p.A1073V	ENST00000337907	NM_012102.3	1073	gCg/gTg	0	validated		benign	
ADAD2		inserm.fr	GRCh37	16	84224844	84224844	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1742T																					ENST00000268624.3:c.8C>A	p.Ser3Ter	p.S3*	ENST00000268624	NM_139174.3	3	tCg/tAg	0	not done		damaging	
PRSS35		inserm.fr	GRCh37	6	84234109	84234109	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000536636.1:c.949G>A	p.Ala317Thr	p.A317T	ENST00000536636	NM_001170423.1	317	Gct/Act	0	not done		benign	
PRSS35		inserm.fr	GRCh37	6	84234288	84234288	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000536636.1:c.1128G>A	p.Val376=	p.V376=	ENST00000536636	NM_001170423.1	376	gtG/gtA	0	not done		synonymous	
PRSS35		inserm.fr	GRCh37	6	84234379	84234379	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM683T																					ENST00000536636.1:c.1219G>A	p.Asp407Asn	p.D407N	ENST00000536636	NM_001170423.1	407	Gat/Aat	0	validated		benign	
SH3GL3		inserm.fr	GRCh37	15	84245422	84245422	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1717T																					ENST00000427482.2:c.553C>A	p.Gln185Lys	p.Q185K	ENST00000427482	NM_003027.3	185	Caa/Aaa	0	not done		benign	
KCNG4		inserm.fr	GRCh37	16	84270510	84270510	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000308251.4:c.582C>T	p.Ala194=	p.A194=	ENST00000308251	NM_172347.2	194	gcC/gcT	0	not done		synonymous	
KCNG4		inserm.fr	GRCh37	16	84270785	84270785	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1598T																					ENST00000308251.4:c.307G>T	p.Asp103Tyr	p.D103Y	ENST00000308251	NM_172347.2	103	Gat/Tat	0	not done		probablydamaging	
KCNG4		inserm.fr	GRCh37	16	84271002	84271002	+	synonymous_variant	Silent	SNP	G	A	A			CHC451T																					ENST00000308251.4:c.90C>T	p.Pro30=	p.P30=	ENST00000308251	NM_172347.2	30	ccC/ccT	0	not done		synonymous	
SH3GL3		inserm.fr	GRCh37	15	84287018	84287018	+	synonymous_variant	Silent	SNP	G	A	A			CHC889T																					ENST00000427482.2:c.1023G>A	p.Val341=	p.V341=	ENST00000427482	NM_003027.3	341	gtG/gtA	0	not done		synonymous	
SLITRK1		inserm.fr	GRCh37	13	84454590	84454590	+	synonymous_variant	Silent	SNP	T	A	A			CHC1052T																					ENST00000377084.2:c.1053A>T	p.Pro351=	p.P351=	ENST00000377084	NM_052910.2	351	ccA/ccT	0	validated		synonymous	
ATP2C2		inserm.fr	GRCh37	16	84492993	84492993	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000262429.4:c.2333+1G>A		p.X778_splice	ENST00000262429	NM_014861.2			0	not done		damaging	
ATP2C2		inserm.fr	GRCh37	16	84497255	84497255	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1717T																					ENST00000262429.4:c.2758T>A	p.Phe920Ile	p.F920I	ENST00000262429	NM_014861.2	920	Ttc/Atc	0	not done		possiblydamaging	
CHTF18		inserm.fr	GRCh37	16	845132	845132	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262315.9:c.1951G>A	p.Gly651Ser	p.G651S	ENST00000262315	NM_022092.2	651	Ggc/Agc	0	not done		probablydamaging	
TRMT44		inserm.fr	GRCh37	4	8456475	8456475	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000389737.4:c.1138G>A	p.Gly380Ser	p.G380S	ENST00000389737	NM_152544.2	380	Ggc/Agc	0	not done		probablydamaging	
ADAMTSL3		inserm.fr	GRCh37	15	84611717	84611717	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000286744.5:c.2373G>A	p.Thr791=	p.T791=	ENST00000286744	NM_207517.2	791	acG/acA	0	not done		synonymous	
COTL1		inserm.fr	GRCh37	16	84623790	84623790	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262428.4:c.239C>T	p.Thr80Met	p.T80M	ENST00000262428	NM_021149.2	80	aCg/aTg	0	not done		probablydamaging	
SEMA3D		inserm.fr	GRCh37	7	84636137	84636137	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1594T																					ENST00000284136.6:c.1889G>T	p.Gly630Val	p.G630V	ENST00000284136	NM_152754.2	630	gGg/gTg	0	not done		probablydamaging	
COTL1		inserm.fr	GRCh37	16	84651467	84651467	+	synonymous_variant	Silent	SNP	G	A	A			CHC2208T																					ENST00000262428.4:c.54C>T	p.Arg18=	p.R18=	ENST00000262428	NM_021149.2	18	cgC/cgT	0	not done		synonymous	
SUCLG1		inserm.fr	GRCh37	2	84652654	84652654	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1201T																					ENST00000393868.2:c.899C>T	p.Ala300Val	p.A300V	ENST00000393868	NM_003849.3	300	gCc/gTc	0	not done		probablydamaging	
SUCLG1		inserm.fr	GRCh37	2	84668498	84668498	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM399T									Valid												ENST00000393868.2:c.404C>T	p.Ala135Val	p.A135V	ENST00000393868	NM_003849.3	135	gCa/gTa	0	validated		probablydamaging	
KLHL36		inserm.fr	GRCh37	16	84691034	84691034	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000564996.1:c.621G>A	p.Glu207=	p.E207=	ENST00000564996	NM_024731.2	207	gaG/gaA	0	not done		synonymous	
KLHL36		inserm.fr	GRCh37	16	84695556	84695556	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000564996.1:c.1668G>A	p.Trp556Ter	p.W556*	ENST00000564996	NM_024731.2	556	tgG/tgA	0	not done		damaging	
KLHL36		inserm.fr	GRCh37	16	84695682	84695682	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000564996.1:c.1794G>A	p.Arg598=	p.R598=	ENST00000564996	NM_024731.2	598	cgG/cgA	0	not done		synonymous	
ADAMTSL3		inserm.fr	GRCh37	15	84700171	84700171	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1207T																					ENST00000286744.5:c.4741G>A	p.Asp1581Asn	p.D1581N	ENST00000286744	NM_207517.2	1581	Gat/Aat	0	not done		benign	
ADAMTSL3		inserm.fr	GRCh37	15	84705555	84705555	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000286744.5:c.4785G>A	p.Gly1595=	p.G1595=	ENST00000286744	NM_207517.2	1595	ggG/ggA	0	not done		synonymous	
NRG3		inserm.fr	GRCh37	10	84711298	84711298	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000372141.2:c.1128G>A	p.Met376Ile	p.M376I	ENST00000372141	NM_001165972.1	376	atG/atA	0	not done		benign	
NRG3		inserm.fr	GRCh37	10	84733611	84733611	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1148T																					ENST00000372141.2:c.1352C>A	p.Pro451His	p.P451H	ENST00000372141	NM_001165972.1	451	cCc/cAc	0	not done		possiblydamaging	
NRG3		inserm.fr	GRCh37	10	84733612	84733612	+	synonymous_variant	Silent	SNP	C	A	A			CHC1148T																					ENST00000372141.2:c.1353C>A	p.Pro451=	p.P451=	ENST00000372141	NM_001165972.1	451	ccC/ccA	0	not done		synonymous	
USP10		inserm.fr	GRCh37	16	84778658	84778658	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1597T																					ENST00000219473.7:c.571G>A	p.Ala191Thr	p.A191T	ENST00000219473	NM_005153.2	191	Gca/Aca	0	not done		benign	
MRAP2		inserm.fr	GRCh37	6	84799051	84799051	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000257776.4:c.469G>A	p.Glu157Lys	p.E157K	ENST00000257776	NM_138409.2	157	Gag/Aag	0	not done		possiblydamaging	
DNAH6		inserm.fr	GRCh37	2	84806802	84806802	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1566T																					ENST00000389394.3:c.2228G>A	p.Arg743Gln	p.R743Q	ENST00000389394	NM_001370.1	743	cGg/cAg	0	not done		possiblydamaging	
DNAH6		inserm.fr	GRCh37	2	84811317	84811317	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000389394.3:c.2424G>A	p.Leu808=	p.L808=	ENST00000389394	NM_001370.1	808	ttG/ttA	0	not done		synonymous	
USP10		inserm.fr	GRCh37	16	84812524	84812524	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000219473.7:c.2233G>A	p.Ala745Thr	p.A745T	ENST00000219473	NM_005153.2	745	Gcg/Acg	0	not done		probablydamaging	
DNASE2B		inserm.fr	GRCh37	1	84864324	84864324	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370665.3:c.77G>A	p.Gly26Glu	p.G26E	ENST00000370665	NM_021233.2	26	gGg/gAg	0	not done		benign	
KIAA1009		inserm.fr	GRCh37	6	84865128	84865128	+	synonymous_variant	Silent	SNP	T	A	A			CHC2048T																					ENST00000403245.3:c.2883A>T	p.Thr961=	p.T961=	ENST00000403245	NM_014895.2	961	acA/acT	0	not done		synonymous	
CRISPLD2		inserm.fr	GRCh37	16	84872121	84872121	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC306T																					ENST00000262424.5:c.20G>A	p.Gly7Asp	p.G7D	ENST00000262424	NM_031476.3	7	gGt/gAt	0	validated		benign	
GNG13		inserm.fr	GRCh37	16	848755	848755	+	synonymous_variant	Silent	SNP	G	A	A			CHC510T																					ENST00000248150.4:c.168C>T	p.Asn56=	p.N56=	ENST00000248150	NM_016541.2	56	aaC/aaT	0	validated		synonymous	
DNAH6		inserm.fr	GRCh37	2	84924848	84924848	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM397T																					ENST00000389394.3:c.7674C>A	p.Asp2558Glu	p.D2558E	ENST00000389394	NM_001370.1	2558	gaC/gaA	0	validated		possiblydamaging	
DNAH6		inserm.fr	GRCh37	2	85008616	85008616	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC2103T																					ENST00000389394.3:c.10704-1G>A		p.X3568_splice	ENST00000389394	NM_001370.1			0	not done		damaging	
PTPRD		inserm.fr	GRCh37	9	8504388	8504388	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC884T																					ENST00000356435.5:c.1695G>T	p.Glu565Asp	p.E565D	ENST00000356435		565	gaG/gaT	0	validated		benign	
KAL1		inserm.fr	GRCh37	X	8507763	8507763	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262648.3:c.1391C>T	p.Pro464Leu	p.P464L	ENST00000262648	NM_000216.2	464	cCt/cTt	0	not done		benign	
PTPRD		inserm.fr	GRCh37	9	8521450	8521450	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1180T																					ENST00000356435.5:c.788C>T	p.Pro263Leu	p.P263L	ENST00000356435		263	cCa/cTa	0	validated		probablydamaging	
PTPRD		inserm.fr	GRCh37	9	8521544	8521544	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC434T									Valid												ENST00000356435.5:c.694C>T	p.Arg232Cys	p.R232C	ENST00000356435		232	Cgc/Tgc	0	validated		probablydamaging	
KAL1		inserm.fr	GRCh37	X	8522077	8522077	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1065T									Valid												ENST00000262648.3:c.1270C>T	p.Arg424Ter	p.R424*	ENST00000262648	NM_000216.2	424	Cga/Tga	0	validated		damaging	
CHM		inserm.fr	GRCh37	X	85236743	85236743	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	A	A			CHC302T									Valid												ENST00000357749.2:c.187C>T	p.Gln63Ter	p.Q63*	ENST00000357749	NM_000390.2	63	Cag/Tag	0	validated		damaging	
SLC6A15		inserm.fr	GRCh37	12	85255760	85255760	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000266682.5:c.1844C>T	p.Pro615Leu	p.P615L	ENST00000266682	NM_182767.5	615	cCa/cTa	0	not done		probablydamaging	
ELANE		inserm.fr	GRCh37	19	853011	853011	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000590230.1:c.203C>A	p.Ala68Asp	p.A68D	ENST00000590230		68	gCc/gAc	0	not done		probablydamaging	
ZNF592		inserm.fr	GRCh37	15	85327520	85327520	+	synonymous_variant	Silent	SNP	G	A	A			CHC1211T																					ENST00000299927.3:c.1614G>A	p.Val538=	p.V538=	ENST00000299927		538	gtG/gtA	0	not done		synonymous	
ZNF592		inserm.fr	GRCh37	15	85345227	85345227	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000299927.3:c.3407G>A	p.Gly1136Glu	p.G1136E	ENST00000299927		1136	gGg/gAg	0	not done		benign	
ALPK3		inserm.fr	GRCh37	15	85400474	85400474	+	synonymous_variant	Silent	SNP	G	A	A			CHC320T																					ENST00000258888.5:c.3111G>A	p.Pro1037=	p.P1037=	ENST00000258888	NM_020778.4	1037	ccG/ccA	0	validated		synonymous	
MCOLN2		inserm.fr	GRCh37	1	85403663	85403663	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC1185T																					ENST00000370608.3:c.1212+1G>T		p.X404_splice	ENST00000370608	NM_153259.2			0	not done		damaging	
MCOLN2		inserm.fr	GRCh37	1	85405284	85405284	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000370608.3:c.1062C>T	p.Asp354=	p.D354=	ENST00000370608	NM_153259.2	354	gaC/gaT	0	not done		synonymous	
NKX6-1		inserm.fr	GRCh37	4	85419311	85419311	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000295886.4:c.71C>T	p.Ala24Val	p.A24V	ENST00000295886	NM_006168.2	24	gCc/gTc	0	not done		possiblydamaging	
SLC28A1		inserm.fr	GRCh37	15	85431048	85431048	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000394573.1:c.57G>A	p.Lys19=	p.K19=	ENST00000394573	NM_004213.3	19	aaG/aaA	0	not done		synonymous	
LRRIQ1		inserm.fr	GRCh37	12	85439916	85439916	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000393217.2:c.454+1G>A		p.X152_splice	ENST00000393217	NM_001079910.1			0	not done		damaging	
LRRIQ1		inserm.fr	GRCh37	12	85446023	85446023	+	synonymous_variant	Silent	SNP	G	A	A			CHC912T																					ENST00000393217.2:c.747G>A	p.Gln249=	p.Q249=	ENST00000393217	NM_001079910.1	249	caG/caA	0	validated		synonymous	
TBX18		inserm.fr	GRCh37	6	85457772	85457772	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1736T																					ENST00000369663.5:c.805C>T	p.Arg269Ter	p.R269*	ENST00000369663	NM_001080508.2	269	Cga/Tga	0	not done		damaging	
TBX18		inserm.fr	GRCh37	6	85472378	85472378	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000369663.5:c.381C>T	p.Ala127=	p.A127=	ENST00000369663	NM_001080508.2	127	gcC/gcT	0	not done		synonymous	
LRRIQ1		inserm.fr	GRCh37	12	85497795	85497795	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1629T																					ENST00000393217.2:c.3223G>A	p.Val1075Ile	p.V1075I	ENST00000393217	NM_001079910.1	1075	Gta/Ata	0	validated		benign	
ANGPT4		inserm.fr	GRCh37	20	855056	855056	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000381922.3:c.1222C>T	p.Leu408Phe	p.L408F	ENST00000381922	NM_015985.2	408	Ctt/Ttt	0	not done		probablydamaging	
ELANE		inserm.fr	GRCh37	19	855603	855603	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000590230.1:c.406G>A	p.Ala136Thr	p.A136T	ENST00000590230		136	Gcc/Acc	0	not done		probablydamaging	
WDR63		inserm.fr	GRCh37	1	85575736	85575736	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000294664.6:c.1704G>A	p.Arg568=	p.R568=	ENST00000294664	NM_145172.3	568	agG/agA	0	not done		synonymous	
CAPG		inserm.fr	GRCh37	2	85622670	85622670	+	synonymous_variant	Silent	SNP	C	A	A			CHC902T																					ENST00000263867.4:c.972G>T	p.Pro324=	p.P324=	ENST00000263867	NM_001256140.1	324	ccG/ccT	0	not done		synonymous	
PRAM1		inserm.fr	GRCh37	19	8563519	8563519	+	synonymous_variant	Silent	SNP	G	A	A			CHC1044T																					ENST00000423345.4:c.1173C>T	p.Ser391=	p.S391=	ENST00000423345		391	agC/agT	0	not done		synonymous	
SYDE2		inserm.fr	GRCh37	1	85648495	85648495	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000341460.5:c.1830G>T	p.Met610Ile	p.M610I	ENST00000341460	NM_032184.1	610	atG/atT	0	not done		benign	
PDE8A		inserm.fr	GRCh37	15	85652311	85652311	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000310298.4:c.1064G>A	p.Arg355Lys	p.R355K	ENST00000310298		355	aGg/aAg	0	not done		benign	
PDE8A		inserm.fr	GRCh37	15	85669483	85669483	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2099T																					ENST00000310298.4:c.2131C>A	p.Pro711Thr	p.P711T	ENST00000310298		711	Cca/Aca	0	not done		possiblydamaging	
RASEF		inserm.fr	GRCh37	9	85677623	85677623	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000376447.3:c.160C>T	p.Leu54=	p.L54=	ENST00000376447	NM_152573.3	54	Ctg/Ttg	0	not done		synonymous	
WDFY3		inserm.fr	GRCh37	4	85704172	85704172	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC097T																					ENST00000295888.4:c.4118C>T	p.Ala1373Val	p.A1373V	ENST00000295888	NM_014991.4	1373	gCa/gTa	0	not done		benign	
VAMP5		inserm.fr	GRCh37	2	85818914	85818914	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM545T																					ENST00000306384.4:c.70T>A	p.Phe24Ile	p.F24I	ENST00000306384	NM_006634.2	24	Ttc/Atc	0	validated		probablydamaging	
MYO1F		inserm.fr	GRCh37	19	8586455	8586455	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000338257.8:c.3254G>T	p.Gly1085Val	p.G1085V	ENST00000338257	NM_012335.3	1085	gGc/gTc	0	not done		probablydamaging	
USP39		inserm.fr	GRCh37	2	85866362	85866362	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1763T																					ENST00000323701.6:c.1132G>A	p.Glu378Lys	p.E378K	ENST00000323701	NM_006590.3	378	Gag/Aag	0	not done		possiblydamaging	
LARP4B		inserm.fr	GRCh37	10	858936	858936	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM617T																					ENST00000316157.3:c.2147G>T	p.Arg716Leu	p.R716L	ENST00000316157	NM_015155.2	716	cGg/cTg	0	validated		probablydamaging	
SFTPB		inserm.fr	GRCh37	2	85893848	85893848	+	synonymous_variant	Silent	SNP	G	A	A			BCB157T																					ENST00000393822.3:c.321C>T	p.Phe107=	p.F107=	ENST00000393822		107	ttC/ttT	0	validated		synonymous	
DACH2		inserm.fr	GRCh37	X	85906059	85906059	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373125.4:c.661G>A	p.Ala221Thr	p.A221T	ENST00000373125	NM_053281.3	221	Gct/Act	0	not done		probablydamaging	
FRMD3		inserm.fr	GRCh37	9	85928629	85928629	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1055T									Valid												ENST00000304195.3:c.630G>T	p.Leu210Phe	p.L210F	ENST00000304195	NM_001244960.1	210	ttG/ttT	0	validated		benign	
CDHR1		inserm.fr	GRCh37	10	85956385	85956385	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000372117.3:c.276G>A	p.Leu92=	p.L92=	ENST00000372117	NM_033100.3	92	ctG/ctA	0	not done		synonymous	
CADM2		inserm.fr	GRCh37	3	85961650	85961650	+	synonymous_variant	Silent	SNP	C	A	A			BCM545T																					ENST00000405615.2:c.636C>A	p.Leu212=	p.L212=	ENST00000405615	NM_153184.3	212	ctC/ctA	0	validated		synonymous	
LRIT1		inserm.fr	GRCh37	10	85997389	85997389	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1744T																					ENST00000372105.3:c.176C>T	p.Pro59Leu	p.P59L	ENST00000372105	NM_015613.2	59	cCg/cTg	0	not done		benign	
LRIT1		inserm.fr	GRCh37	10	86001077	86001077	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000372105.3:c.119C>T	p.Ala40Val	p.A40V	ENST00000372105	NM_015613.2	40	gCc/gTc	0	not done		benign	
RGR		inserm.fr	GRCh37	10	86007371	86007371	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1749T																					ENST00000359452.4:c.104C>A	p.Thr35Asn	p.T35N	ENST00000359452	NM_002921.3	35	aCc/aAc	0	not done		benign	
RGR		inserm.fr	GRCh37	10	86012633	86012633	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1081T																					ENST00000359452.4:c.391T>A	p.Ser131Thr	p.S131T	ENST00000359452	NM_002921.3	131	Tca/Aca	0	validated		benign	
LRRCC1		inserm.fr	GRCh37	8	86019544	86019544	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000360375.3:c.14C>A	p.Ala5Glu	p.A5E	ENST00000360375	NM_033402.4	5	gCg/gAg	0	validated		benign	
CPZ		inserm.fr	GRCh37	4	8602996	8602996	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000360986.4:c.268G>A	p.Glu90Lys	p.E90K	ENST00000360986	NM_001014447.2	90	Gaa/Aaa	0	not done		benign	
CPZ		inserm.fr	GRCh37	4	8616189	8616189	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000360986.4:c.1467G>A	p.Gln489=	p.Q489=	ENST00000360986	NM_001014447.2	489	caG/caA	0	not done		synonymous	
NT5E		inserm.fr	GRCh37	6	86176880	86176880	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000257770.3:c.442G>A	p.Gly148Arg	p.G148R	ENST00000257770	NM_002526.3	148	Ggg/Agg	0	not done		benign	
COL24A1		inserm.fr	GRCh37	1	86203112	86203112	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000370571.2:c.4749C>T	p.Gly1583=	p.G1583=	ENST00000370571	NM_152890.5	1583	ggC/ggT	0	not done		synonymous	
POLR1A		inserm.fr	GRCh37	2	86258696	86258696	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM739T																					ENST00000263857.6:c.4335G>T	p.Met1445Ile	p.M1445I	ENST00000263857		1445	atG/atT	0	validated		benign	
COL24A1		inserm.fr	GRCh37	1	86334298	86334298	+	synonymous_variant	Silent	SNP	T	A	A			CHC884T																					ENST00000370571.2:c.3204A>T	p.Gly1068=	p.G1068=	ENST00000370571	NM_152890.5	1068	ggA/ggT	0	validated		synonymous	
PTCD3		inserm.fr	GRCh37	2	86344258	86344258	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000254630.7:c.390G>A	p.Lys130=	p.K130=	ENST00000254630	NM_017952.5	130	aaG/aaA	0	not done		synonymous	
SLITRK6		inserm.fr	GRCh37	13	86368261	86368261	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC889T																					ENST00000400286.2:c.2383G>T	p.Glu795Ter	p.E795*	ENST00000400286	NM_032229.2	795	Gaa/Taa	0	not done		damaging	
SLITRK6		inserm.fr	GRCh37	13	86368901	86368901	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000400286.2:c.1743C>T	p.Tyr581=	p.Y581=	ENST00000400286	NM_032229.2	581	taC/taT	0	not done		synonymous	
SLITRK6		inserm.fr	GRCh37	13	86369068	86369068	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1744T																					ENST00000400286.2:c.1576G>T	p.Val526Phe	p.V526F	ENST00000400286	NM_032229.2	526	Gtt/Ttt	0	not done		probablydamaging	
GRM3		inserm.fr	GRCh37	7	86416012	86416012	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM265T									Valid												ENST00000361669.2:c.904G>A	p.Gly302Ser	p.G302S	ENST00000361669	NM_000840.2	302	Ggc/Agc	0	validated		probablydamaging	
COL24A1		inserm.fr	GRCh37	1	86435931	86435931	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000370571.2:c.2442C>T	p.Ala814=	p.A814=	ENST00000370571	NM_152890.5	814	gcC/gcT	0	not done		synonymous	
GAK		inserm.fr	GRCh37	4	864682	864682	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM337T																					ENST00000314167.4:c.2065G>T	p.Asp689Tyr	p.D689Y	ENST00000314167	NM_005255.2	689	Gac/Tac	0	validated		probablydamaging	
GRM3		inserm.fr	GRCh37	7	86469173	86469173	+	synonymous_variant	Silent	SNP	C	A	A			CHC805T																					ENST00000361669.2:c.2343C>A	p.Ile781=	p.I781=	ENST00000361669	NM_000840.2	781	atC/atA	0	not done		synonymous	
ADAMTS10		inserm.fr	GRCh37	19	8650504	8650504	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1602T																					ENST00000270328.4:c.2701G>T	p.Asp901Tyr	p.D901Y	ENST00000270328		901	Gat/Tat	0	not done		probablydamaging	
COL24A1		inserm.fr	GRCh37	1	86524808	86524808	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC155T									Valid												ENST00000370571.2:c.1802G>T	p.Arg601Met	p.R601M	ENST00000370571	NM_152890.5	601	aGg/aTg	0	validated		probablydamaging	
KIAA1324L		inserm.fr	GRCh37	7	86554903	86554903	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1595T																					ENST00000450689.2:c.1340C>T	p.Pro447Leu	p.P447L	ENST00000450689	NM_001142749.2	447	cCt/cTt	0	validated		probablydamaging	
COL24A1		inserm.fr	GRCh37	1	86591216	86591216	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370571.2:c.803C>T	p.Ser268Phe	p.S268F	ENST00000370571	NM_152890.5	268	tCt/tTt	0	not done		possiblydamaging	
KIAA1324L		inserm.fr	GRCh37	7	86594274	86594274	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1209T																					ENST00000450689.2:c.256A>T	p.Asn86Tyr	p.N86Y	ENST00000450689	NM_001142749.2	86	Aat/Tat	0	not done		probablydamaging	
TRIM66		inserm.fr	GRCh37	11	8662329	8662329	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1148T																					ENST00000402157.2:c.1152G>T	p.Trp384Cys	p.W384C	ENST00000402157		384	tgG/tgT	0	validated		probablydamaging	
RASA1		inserm.fr	GRCh37	5	86675607	86675607	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM723T																					ENST00000274376.6:c.2543T>A	p.Leu848Gln	p.L848Q	ENST00000274376	NM_002890.2	848	cTa/cAa	0	validated		probablydamaging	
RASA1		inserm.fr	GRCh37	5	86681198	86681198	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM489T																					ENST00000274376.6:c.2839G>A	p.Gly947Arg	p.G947R	ENST00000274376	NM_002890.2	947	Gga/Aga	0	validated		probablydamaging	
KIAA1324L		inserm.fr	GRCh37	7	86688820	86688820	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1186T																					ENST00000450689.2:c.10C>T	p.Arg4Cys	p.R4C	ENST00000450689	NM_001142749.2	4	Cgc/Tgc	0	validated		benign	
AGBL1		inserm.fr	GRCh37	15	86697742	86697742	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2110Tbis																					ENST00000441037.2:c.206G>A	p.Gly69Asp	p.G69D	ENST00000441037	NM_152336.2	69	gGc/gAc	0	validated		benign	
CCNH		inserm.fr	GRCh37	5	86703969	86703969	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1205T																					ENST00000256897.4:c.349G>T	p.Glu117Ter	p.E117*	ENST00000256897	NM_001239.3	117	Gaa/Taa	0	not done		damaging	
KDM3A		inserm.fr	GRCh37	2	86705292	86705292	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC1742T																					ENST00000409556.1:c.2093-1G>A		p.X698_splice	ENST00000409556				0	not done		damaging	
AGBL1		inserm.fr	GRCh37	15	86790960	86790960	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC306T																					ENST00000441037.2:c.447C>A	p.His149Gln	p.H149Q	ENST00000441037	NM_152336.2	149	caC/caA	0	validated		probablydamaging	
AGBL1		inserm.fr	GRCh37	15	86813226	86813226	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000441037.2:c.1777G>A	p.Gly593Ser	p.G593S	ENST00000441037	NM_152336.2	593	Ggt/Agt	0	validated		possiblydamaging	
KLHL4		inserm.fr	GRCh37	X	86880731	86880731	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2103T																					ENST00000373114.4:c.1259G>A	p.Arg420Gln	p.R420Q	ENST00000373114	NM_057162.2	420	cGg/cAg	0	not done		probablydamaging	
KLHL4		inserm.fr	GRCh37	X	86888796	86888796	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2141T																					ENST00000373114.4:c.1597G>A	p.Gly533Arg	p.G533R	ENST00000373114	NM_057162.2	533	Gga/Aga	0	not done		probablydamaging	
CLCA2		inserm.fr	GRCh37	1	86900404	86900404	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000370565.4:c.948G>A	p.Leu316=	p.L316=	ENST00000370565	NM_006536.5	316	ctG/ctA	0	not done		synonymous	
ANGPT4		inserm.fr	GRCh37	20	869046	869046	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000381922.3:c.502C>T	p.Pro168Ser	p.P168S	ENST00000381922	NM_015985.2	168	Cca/Tca	0	not done		benign	
SLC28A3		inserm.fr	GRCh37	9	86920199	86920199	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC961T																					ENST00000376238.4:c.304C>T	p.Arg102Trp	p.R102W	ENST00000376238	NM_001199633.1	102	Cgg/Tgg	0	validated		benign	
CLCA2		inserm.fr	GRCh37	1	86921104	86921104	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2052T																					ENST00000370565.4:c.2726C>A	p.Ala909Glu	p.A909E	ENST00000370565	NM_006536.5	909	gCa/gAa	0	not done		possiblydamaging	
CLCA1		inserm.fr	GRCh37	1	86939492	86939492	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000234701.3:c.384G>A	p.Lys128=	p.K128=	ENST00000234701		128	aaG/aaA	0	not done		synonymous	
CLCA1		inserm.fr	GRCh37	1	86952271	86952271	+	synonymous_variant	Silent	SNP	G	A	A			CHC1192T																					ENST00000234701.3:c.1017G>A	p.Glu339=	p.E339=	ENST00000234701		339	gaG/gaA	0	validated		synonymous	
CLCA1		inserm.fr	GRCh37	1	86952392	86952392	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1594T																					ENST00000234701.3:c.1138T>A	p.Ser380Thr	p.S380T	ENST00000234701		380	Tca/Aca	0	not done		benign	
MAPK10		inserm.fr	GRCh37	4	86988969	86988969	+	synonymous_variant	Silent	SNP	T	A	A			CHC1715T																					ENST00000359221.3:c.942A>T	p.Pro314=	p.P314=	ENST00000359221		314	ccA/ccT	0	not done		synonymous	
MAPK10		inserm.fr	GRCh37	4	86988975	86988975	+	synonymous_variant	Silent	SNP	G	A	A			CHC302T																					ENST00000359221.3:c.936C>T	p.Leu312=	p.L312=	ENST00000359221		312	ctC/ctT	0	validated		synonymous	
MAPK10		inserm.fr	GRCh37	4	86988987	86988987	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000359221.3:c.924C>T	p.Thr308=	p.T308=	ENST00000359221		308	acC/acT	0	not done		synonymous	
MFSD6L		inserm.fr	GRCh37	17	8700939	8700939	+	synonymous_variant	Silent	SNP	G	A	A			BCB111T																					ENST00000329805.4:c.1500C>T	p.Tyr500=	p.Y500=	ENST00000329805	NM_152599.3	500	taC/taT	0	validated		synonymous	
CD8A		inserm.fr	GRCh37	2	87017622	87017622	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000409511.2:c.232C>T	p.Pro78Ser	p.P78S	ENST00000409511	NM_001145873.1	78	Ccc/Tcc	0	not done		benign	
MAPK10		inserm.fr	GRCh37	4	87022262	87022262	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1052T																					ENST00000359221.3:c.673G>T	p.Val225Leu	p.V225L	ENST00000359221		225	Gtg/Ttg	0	validated		benign	
ABCB4		inserm.fr	GRCh37	7	87037382	87037382	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T									Valid												ENST00000265723.4:c.3250C>T	p.Arg1084Trp	p.R1084W	ENST00000265723	NM_000443.3	1084	Cgg/Tgg	0	validated		probablydamaging	
CLCA4		inserm.fr	GRCh37	1	87043714	87043714	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1749T																					ENST00000370563.3:c.2081C>A	p.Pro694Gln	p.P694Q	ENST00000370563	NM_012128.3	694	cCa/cAa	0	not done		benign	
ABCB4		inserm.fr	GRCh37	7	87082426	87082426	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1028T																					ENST00000265723.4:c.370G>T	p.Gly124Cys	p.G124C	ENST00000265723	NM_000443.3	124	Ggt/Tgt	0	not done		probablydamaging	
CD8B		inserm.fr	GRCh37	2	87085410	87085410	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000331469.2:c.173G>T	p.Arg58Leu	p.R58L	ENST00000331469	NM_172213.3	58	cGc/cTc	0	not done		benign	
AGBL1		inserm.fr	GRCh37	15	87089363	87089363	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			BCM723T									Valid												ENST00000441037.2:c.2678G>A	p.Arg893Lys	p.R893K	ENST00000441037	NM_152336.2	893	aGg/aAg	0	validated		probablydamaging	
SH3GLB1		inserm.fr	GRCh37	1	87207891	87207891	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	A	A			CHC302T																					ENST00000482504.1:c.825T>A	p.Ser275Arg	p.S275R	ENST00000482504	NM_001206652.1	275	agT/agA	0	validated		damaging	
NTRK2		inserm.fr	GRCh37	9	87325616	87325616	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000277120.3:c.493G>A	p.Ala165Thr	p.A165T	ENST00000277120		165	Gct/Act	0	not done		benign	
NTRK2		inserm.fr	GRCh37	9	87342841	87342841	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC796T									Valid												ENST00000277120.3:c.1126G>A	p.Ala376Thr	p.A376T	ENST00000277120		376	Gct/Act	0	validated		probablydamaging	
ST5		inserm.fr	GRCh37	11	8737193	8737193	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1207T																					ENST00000534127.1:c.1802C>T	p.Thr601Ile	p.T601I	ENST00000534127	NM_005418.3	601	aCc/aTc	0	validated		benign	
HS2ST1		inserm.fr	GRCh37	1	87380844	87380844	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000370550.5:c.124+1G>A		p.X42_splice	ENST00000370550	NM_012262.3			0	not done		damaging	
WWP1		inserm.fr	GRCh37	8	87393795	87393795	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM671T																					ENST00000517970.1:c.271G>A	p.Asp91Asn	p.D91N	ENST00000517970	NM_007013.3	91	Gat/Aat	0	validated		probablydamaging	
DBF4		inserm.fr	GRCh37	7	87516200	87516200	+	synonymous_variant	Silent	SNP	C	A	A			CHC884T																					ENST00000265728.1:c.441C>A	p.Ile147=	p.I147=	ENST00000265728	NM_006716.3	147	atC/atA	0	validated		synonymous	
ST5		inserm.fr	GRCh37	11	8751751	8751751	+	synonymous_variant	Silent	SNP	G	A	A			CHC1616T																					ENST00000534127.1:c.1086C>T	p.Pro362=	p.P362=	ENST00000534127	NM_005418.3	362	ccC/ccT	0	not done		synonymous	
CPNE3		inserm.fr	GRCh37	8	87552548	87552548	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1180T																					ENST00000521271.1:c.619G>A	p.Asp207Asn	p.D207N	ENST00000521271	NM_003909.3	207	Gac/Aac	0	validated		benign	
PLCB1		inserm.fr	GRCh37	20	8755300	8755300	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000338037.6:c.3045G>A	p.Gln1015=	p.Q1015=	ENST00000338037	NM_015192.3	1015	caG/caA	0	not done		synonymous	
NTRK2		inserm.fr	GRCh37	9	87563409	87563409	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000277120.3:c.1797G>A	p.Lys599=	p.K599=	ENST00000277120		599	aaG/aaA	0	not done		synonymous	
NTRK2		inserm.fr	GRCh37	9	87570332	87570332	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC794T									Valid												ENST00000277120.3:c.2072G>A	p.Arg691His	p.R691H	ENST00000277120		691	cGc/cAc	0	validated		probablydamaging	
AICDA		inserm.fr	GRCh37	12	8757478	8757478	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1629T																					ENST00000229335.6:c.468A>T	p.Glu156Asp	p.E156D	ENST00000229335	NM_020661.2	156	gaA/gaT	0	not done		probablydamaging	
CNGB3		inserm.fr	GRCh37	8	87591445	87591445	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000320005.5:c.1817C>T	p.Ala606Val	p.A606V	ENST00000320005	NM_019098.4	606	gCc/gTc	0	not done		probablydamaging	
AICDA		inserm.fr	GRCh37	12	8759595	8759595	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM617T																					ENST00000229335.6:c.22C>T	p.Arg8Trp	p.R8W	ENST00000229335	NM_020661.2	8	Cgg/Tgg	0	validated		probablydamaging	
GRID1		inserm.fr	GRCh37	10	87615903	87615903	+	synonymous_variant	Silent	SNP	G	A	A			CHC429T																					ENST00000327946.7:c.996C>T	p.Asn332=	p.N332=	ENST00000327946	NM_017551.2	332	aaC/aaT	0	validated		synonymous	
JPH3		inserm.fr	GRCh37	16	87678010	87678010	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1611T																					ENST00000284262.2:c.529C>A	p.Leu177Met	p.L177M	ENST00000284262	NM_020655.3	177	Ctg/Atg	0	not done		probablydamaging	
JPH3		inserm.fr	GRCh37	16	87678596	87678596	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000284262.2:c.1115G>A	p.Arg372Gln	p.R372Q	ENST00000284262	NM_020655.3	372	cGg/cAg	0	not done		possiblydamaging	
PTPN13		inserm.fr	GRCh37	4	87690966	87690966	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000436978.1:c.4549G>A	p.Gly1517Arg	p.G1517R	ENST00000436978	NM_080685.2	1517	Gga/Aga	0	not done		probablydamaging	
PTPN13		inserm.fr	GRCh37	4	87701615	87701615	+	synonymous_variant	Silent	SNP	C	A	A			CHC796T																					ENST00000436978.1:c.5967C>A	p.Thr1989=	p.T1989=	ENST00000436978	NM_080685.2	1989	acC/acA	0	validated		synonymous	
HTR1E		inserm.fr	GRCh37	6	87725729	87725729	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000305344.5:c.677G>A	p.Ser226Asn	p.S226N	ENST00000305344	NM_000865.2	226	aGc/aAc	0	not done		probablydamaging	
CNGB3		inserm.fr	GRCh37	8	87738846	87738846	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000320005.5:c.251C>T	p.Thr84Ile	p.T84I	ENST00000320005	NM_019098.4	84	aCa/aTa	0	not done		benign	
SAMD11		inserm.fr	GRCh37	1	878239	878239	+	synonymous_variant	Silent	SNP	C	A	A			CHC197T																					ENST00000342066.3:c.1365C>A	p.Leu455=	p.L455=	ENST00000342066	NM_152486.2	455	ctC/ctA	0	validated		synonymous	
SOGA2		inserm.fr	GRCh37	18	8783709	8783709	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM723T																					ENST00000359865.3:c.599C>A	p.Pro200His	p.P200H	ENST00000359865	NM_015210.3	200	cCc/cAc	0	validated		possiblydamaging	
SRI		inserm.fr	GRCh37	7	87838701	87838701	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2128T																					ENST00000265729.2:c.464C>T	p.Thr155Ile	p.T155I	ENST00000265729	NM_003130.3	155	aCc/aTc	0	not done		possiblydamaging	
PIK3R5		inserm.fr	GRCh37	17	8783961	8783961	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000447110.1:c.2638C>T	p.Pro880Ser	p.P880S	ENST00000447110	NM_001251855.1	880	Ccc/Tcc	0	not done		probablydamaging	
STEAP4		inserm.fr	GRCh37	7	87912266	87912266	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM257T																					ENST00000380079.4:c.674A>T	p.Tyr225Phe	p.Y225F	ENST00000380079	NM_024636.3	225	tAc/tTc	0	validated		probablydamaging	
ZNF292		inserm.fr	GRCh37	6	87928437	87928437	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1749T																					ENST00000369577.3:c.526G>A	p.Asp176Asn	p.D176N	ENST00000369577	NM_015021.1	176	Gat/Aat	0	not done		possiblydamaging	
ZNF292		inserm.fr	GRCh37	6	87970510	87970510	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC794T									Valid												ENST00000369577.3:c.7163G>A	p.Cys2388Tyr	p.C2388Y	ENST00000369577	NM_015021.1	2388	tGt/tAt	0	validated		probablydamaging	
MEF2C		inserm.fr	GRCh37	5	88018428	88018428	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC361TA									Valid												ENST00000340208.5:c.1445C>T	p.Ala482Val	p.A482V	ENST00000340208	NM_001193347.1	482	gCa/gTa	0	validated		probablydamaging	
MEF2C		inserm.fr	GRCh37	5	88024359	88024359	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1629T																					ENST00000340208.5:c.1081C>T	p.Gln361Ter	p.Q361*	ENST00000340208	NM_001193347.1	361	Caa/Taa	0	not done		damaging	
MEF2C		inserm.fr	GRCh37	5	88024359	88024359	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1594T																					ENST00000340208.5:c.1081C>T	p.Gln361Ter	p.Q361*	ENST00000340208	NM_001193347.1	361	Caa/Taa	0	validated		damaging	
MEF2C		inserm.fr	GRCh37	5	88027713	88027713	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1739T																					ENST00000340208.5:c.697G>T	p.Gly233Trp	p.G233W	ENST00000340208	NM_001193347.1	233	Ggg/Tgg	0	not done		probablydamaging	
AFF1		inserm.fr	GRCh37	4	88035614	88035614	+	synonymous_variant	Silent	SNP	G	A	A			CHC1061T																					ENST00000395146.4:c.1629G>A	p.Glu543=	p.E543=	ENST00000395146	NM_001166693.1	543	gaG/gaA	0	validated		synonymous	
C6orf163		inserm.fr	GRCh37	6	88074898	88074898	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000388923.4:c.774G>A	p.Gln258=	p.Q258=	ENST00000388923	NM_001010868.2	258	caG/caA	0	not done		synonymous	
ACTL9		inserm.fr	GRCh37	19	8808644	8808644	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000324436.3:c.408C>T	p.Asp136=	p.D136=	ENST00000324436	NM_178525.3	136	gaC/gaT	0	not done		synonymous	
OXTR		inserm.fr	GRCh37	3	8809101	8809101	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1602T																					ENST00000316793.3:c.773C>T	p.Ala258Val	p.A258V	ENST00000316793	NM_000916.3	258	gCg/gTg	0	not done		benign	
KLHL8		inserm.fr	GRCh37	4	88091321	88091321	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC051T																					ENST00000273963.5:c.1447C>T	p.His483Tyr	p.H483Y	ENST00000273963	NM_020803.3	483	Cat/Tat	0	validated		probablydamaging	
BANP		inserm.fr	GRCh37	16	88105162	88105162	+	intron_variant	Intron	SNP	G	A	A			CHC892T																					ENST00000393207.1:c.1345-513G>A		*449*	ENST00000393207	NM_001173543.1			0	not done			
C6orf165		inserm.fr	GRCh37	6	88125449	88125449	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369562.4:c.329G>A	p.Gly110Asp	p.G110D	ENST00000369562	NM_001031743.2	110	gGc/gAc	0	not done		benign	
C6orf165		inserm.fr	GRCh37	6	88144637	88144637	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000369562.4:c.1360G>A	p.Asp454Asn	p.D454N	ENST00000369562	NM_001031743.2	454	Gat/Aat	0	not done		benign	
SOGA2		inserm.fr	GRCh37	18	8819160	8819160	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359865.3:c.3059G>A	p.Ser1020Asn	p.S1020N	ENST00000359865	NM_015210.3	1020	aGt/aAt	0	not done		possiblydamaging	
SOGA2		inserm.fr	GRCh37	18	8824730	8824730	+	synonymous_variant	Silent	SNP	G	A	A			CHC326T																					ENST00000359865.3:c.3222G>A	p.Gln1074=	p.Q1074=	ENST00000359865	NM_015210.3	1074	caG/caA	0	validated		synonymous	
SOGA2		inserm.fr	GRCh37	18	8825490	8825490	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC902T																					ENST00000359865.3:c.3982G>A	p.Gly1328Ser	p.G1328S	ENST00000359865	NM_015210.3	1328	Ggc/Agc	0	not done		probablydamaging	
GRM5		inserm.fr	GRCh37	11	88301119	88301119	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000418177.2:c.1732C>T	p.Pro578Ser	p.P578S	ENST00000418177		578	Cct/Tct	0	not done		probablydamaging	
ORC3		inserm.fr	GRCh37	6	88304070	88304070	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000257789.4:c.25-1G>A		p.X9_splice	ENST00000257789				0	not done		damaging	
ORC3		inserm.fr	GRCh37	6	88346205	88346205	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000257789.4:c.1382+1G>A		p.X461_splice	ENST00000257789				0	not done		damaging	
NOC2L		inserm.fr	GRCh37	1	883513	883513	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000327044.6:c.1657C>T	p.Gln553Ter	p.Q553*	ENST00000327044	NM_015658.3	553	Cag/Tag	0	not done		damaging	
CNBD1		inserm.fr	GRCh37	8	88365923	88365923	+	synonymous_variant	Silent	SNP	G	A	A			BCM567T																					ENST00000518476.1:c.1212G>A	p.Glu404=	p.E404=	ENST00000518476	NM_173538.2	404	gaG/gaA	0	validated		synonymous	
C12orf50		inserm.fr	GRCh37	12	88379686	88379686	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC437T																					ENST00000298699.2:c.1067C>T	p.Thr356Met	p.T356M	ENST00000298699	NM_152589.1	356	aCg/aTg	0	not done		benign	
AKIRIN2		inserm.fr	GRCh37	6	88387673	88387673	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB151T									Valid												ENST00000257787.5:c.392C>T	p.Ala131Val	p.A131V	ENST00000257787	NM_018064.3	131	gCa/gTa	0	validated		possiblydamaging	
GALC		inserm.fr	GRCh37	14	88411983	88411983	+	synonymous_variant	Silent	SNP	G	A	A			CHC1747T																					ENST00000261304.2:c.1584C>T	p.Phe528=	p.F528=	ENST00000261304	NM_000153.3	528	ttC/ttT	0	not done		synonymous	
SPARCL1		inserm.fr	GRCh37	4	88415019	88415019	+	synonymous_variant	Silent	SNP	T	A	A			CHC2048T																					ENST00000418378.1:c.933A>T	p.Thr311=	p.T311=	ENST00000418378	NM_001128310.1	311	acA/acT	0	not done		synonymous	
GALC		inserm.fr	GRCh37	14	88434788	88434788	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T									Valid												ENST00000261304.2:c.799G>T	p.Gly267Trp	p.G267W	ENST00000261304	NM_000153.3	267	Ggg/Tgg	0	validated		probablydamaging	
LDB3		inserm.fr	GRCh37	10	88439870	88439870	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000429277.2:c.277G>A	p.Ala93Thr	p.A93T	ENST00000429277	NM_001171610.1	93	Gca/Aca	0	not done		benign	
ZNF469		inserm.fr	GRCh37	16	88494066	88494066	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000437464.1:c.188C>A	p.Ala63Asp	p.A63D	ENST00000437464	NM_001127464.1	63	gCc/gAc	0	not done		benign	
CEP290		inserm.fr	GRCh37	12	88532970	88532970	+	splice_acceptor_variant	Splice_Site	SNP	T	A	A			CHC898T																					ENST00000552810.1:c.251-2A>T		p.X84_splice	ENST00000552810	NM_025114.3			0	not done		possiblydamaging	
DSPP		inserm.fr	GRCh37	4	88535282	88535282	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1201T																					ENST00000399271.1:c.1468G>A	p.Asp490Asn	p.D490N	ENST00000399271	NM_014208.3	490	Gat/Aat	0	not done		possiblydamaging	
NAA35		inserm.fr	GRCh37	9	88557199	88557199	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC1209T																					ENST00000361671.5:c.124+1G>A		p.X42_splice	ENST00000361671	NM_024635.3			0	not done		possiblydamaging	
NTRK3		inserm.fr	GRCh37	15	88576116	88576116	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC801T																					ENST00000360948.2:c.1557G>T	p.Gln519His	p.Q519H	ENST00000360948	NM_001012338.2	519	caG/caT	0	not done		benign	
ZFPM1		inserm.fr	GRCh37	16	88599325	88599325	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM275T																					ENST00000319555.3:c.1171G>A	p.Ala391Thr	p.A391T	ENST00000319555	NM_153813.2	391	Gca/Aca	0	validated		benign	
ZFPM1		inserm.fr	GRCh37	16	88600859	88600859	+	synonymous_variant	Silent	SNP	C	A	A			CHC434T																					ENST00000319555.3:c.2493C>A	p.Ala831=	p.A831=	ENST00000319555	NM_153813.2	831	gcC/gcA	0	validated		synonymous	
PLCB1		inserm.fr	GRCh37	20	8862338	8862338	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000338037.6:c.3493G>A	p.Val1165Met	p.V1165M	ENST00000338037	NM_015192.3	1165	Gtg/Atg	0	validated		probablydamaging	
PLCB1		inserm.fr	GRCh37	20	8862371	8862371	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM339T																					ENST00000338037.6:c.3526G>A	p.Asp1176Asn	p.D1176N	ENST00000338037	NM_015192.3	1176	Gac/Aac	0	validated		possiblydamaging	
KCNK10		inserm.fr	GRCh37	14	88654391	88654391	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1603T																					ENST00000319231.5:c.931G>T	p.Val311Phe	p.V311F	ENST00000319231	NM_138317.2	311	Gtt/Ttt	0	not done		probablydamaging	
NTRK3		inserm.fr	GRCh37	15	88679180	88679180	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1205T																					ENST00000360948.2:c.857C>T	p.Ala286Val	p.A286V	ENST00000360948	NM_001012338.2	286	gCa/gTa	0	not done		possiblydamaging	
KIDINS220		inserm.fr	GRCh37	2	8871081	8871081	+	synonymous_variant	Silent	SNP	G	A	A			CHC1205T																					ENST00000256707.3:c.5085C>T	p.Ala1695=	p.A1695=	ENST00000256707	NM_020738.2	1695	gcC/gcT	0	not done		synonymous	
SPACA1		inserm.fr	GRCh37	6	88757742	88757742	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM617T																					ENST00000237201.1:c.119G>A	p.Gly40Asp	p.G40D	ENST00000237201	NM_030960.2	40	gGc/gAc	0	validated		possiblydamaging	
SPACA1		inserm.fr	GRCh37	6	88757757	88757757	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000237201.1:c.134G>A	p.Gly45Asp	p.G45D	ENST00000237201	NM_030960.2	45	gGc/gAc	0	not done		possiblydamaging	
MEPE		inserm.fr	GRCh37	4	88766980	88766980	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000424957.3:c.960G>A	p.Arg320=	p.R320=	ENST00000424957	NM_001184694.1	320	agG/agA	0	not done		synonymous	
AGAP11		inserm.fr	GRCh37	10	88769173	88769173	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC961T									Valid												ENST00000433214.2:n.2368G>A		*790*	ENST00000433214				0	validated		damaging	
PIEZO1		inserm.fr	GRCh37	16	88786491	88786491	+	synonymous_variant	Silent	SNP	G	A	A			BCM265T																					ENST00000301015.9:c.6150C>T	p.Pro2050=	p.P2050=	ENST00000301015	NM_001142864.2	2050	ccC/ccT	0	validated		synonymous	
NTRK3		inserm.fr	GRCh37	15	88799210	88799210	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM321T																					ENST00000360948.2:c.175G>T	p.Gly59Trp	p.G59W	ENST00000360948	NM_001012338.2	59	Ggg/Tgg	0	validated		probablydamaging	
PIEZO1		inserm.fr	GRCh37	16	88808479	88808479	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1742T																					ENST00000301015.9:c.308G>T	p.Arg103Leu	p.R103L	ENST00000301015	NM_001142864.2	103	cGa/cTa	0	not done		benign	
CNR1		inserm.fr	GRCh37	6	88854900	88854900	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1191T																					ENST00000537554.1:c.94G>T	p.Asp32Tyr	p.D32Y	ENST00000537554	NM_001160258.1	32	Gac/Tac	0	not done		probablydamaging	
SPATA7		inserm.fr	GRCh37	14	88859766	88859766	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC327T									Valid												ENST00000393545.4:c.124C>A	p.Leu42Ile	p.L42I	ENST00000393545	NM_018418.4	42	Cta/Ata	0	validated		probablydamaging	
DCAF4L2		inserm.fr	GRCh37	8	88885672	88885672	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2103T																					ENST00000319675.3:c.528G>T	p.Met176Ile	p.M176I	ENST00000319675	NM_152418.3	176	atG/atT	0	not done		probablydamaging	
DCAF4L2		inserm.fr	GRCh37	8	88885884	88885884	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC302T									Valid												ENST00000319675.3:c.316G>T	p.Gly106Cys	p.G106C	ENST00000319675	NM_152418.3	106	Ggc/Tgc	0	validated		probablydamaging	
DCAF4L2		inserm.fr	GRCh37	8	88886169	88886169	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1035T									Valid												ENST00000319675.3:c.31G>T	p.Glu11Ter	p.E11*	ENST00000319675	NM_152418.3	11	Gaa/Taa	0	validated		damaging	
PKD2		inserm.fr	GRCh37	4	88929077	88929077	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000237596.2:c.192G>A	p.Ala64=	p.A64=	ENST00000237596	NM_000297.3	64	gcG/gcA	0	not done		synonymous	
PABPN1L		inserm.fr	GRCh37	16	88930695	88930695	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000419291.2:c.747C>T	p.Pro249=	p.P249=	ENST00000419291	NM_001080487.2	249	ccC/ccT	0	not done		synonymous	
ZCCHC6		inserm.fr	GRCh37	9	88937311	88937311	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1207T																					ENST00000375963.3:c.2957A>T	p.Gln986Leu	p.Q986L	ENST00000375963	NM_001185059.1	986	cAg/cTg	0	not done		benign	
CBFA2T3		inserm.fr	GRCh37	16	88951603	88951603	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000268679.4:c.968C>T	p.Pro323Leu	p.P323L	ENST00000268679	NM_005187.5	323	cCt/cTt	0	not done		possiblydamaging	
ZCCHC6		inserm.fr	GRCh37	9	88953809	88953809	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000375963.3:c.1264C>T	p.His422Tyr	p.H422Y	ENST00000375963	NM_001185059.1	422	Cat/Tat	0	not done		benign	
ZCCHC6		inserm.fr	GRCh37	9	88967620	88967620	+	synonymous_variant	Silent	SNP	C	A	A			CHC1731T																					ENST00000375963.3:c.495G>T	p.Thr165=	p.T165=	ENST00000375963	NM_001185059.1	165	acG/acT	0	not done		synonymous	
NUTM2A		inserm.fr	GRCh37	10	88988617	88988617	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC793T																					ENST00000381707.2:c.980G>A	p.Arg327Lys	p.R327K	ENST00000381707	NM_001099338.1	327	aGg/aAg	0	validated		benign	
NUTM2A		inserm.fr	GRCh37	10	88988617	88988617	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC796T																					ENST00000381707.2:c.980G>A	p.Arg327Lys	p.R327K	ENST00000381707	NM_001099338.1	327	aGg/aAg	0	validated		benign	
ZC3H14		inserm.fr	GRCh37	14	89041197	89041197	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000251038.5:c.1022G>A	p.Arg341Lys	p.R341K	ENST00000251038	NM_024824.4	341	aGa/aAa	0	not done		benign	
MMP16		inserm.fr	GRCh37	8	89053746	89053746	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC097T																					ENST00000286614.6:c.1767G>T	p.Arg589Ser	p.R589S	ENST00000286614	NM_005941.4	589	agG/agT	0	not done		probablydamaging	
MMP16		inserm.fr	GRCh37	8	89053747	89053747	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC097T																					ENST00000286614.6:c.1766G>T	p.Arg589Met	p.R589M	ENST00000286614	NM_005941.4	589	aGg/aTg	0	not done		possiblydamaging	
EML5		inserm.fr	GRCh37	14	89123720	89123720	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000554922.1:c.4004G>T	p.Arg1335Met	p.R1335M	ENST00000554922	NM_183387.2	1335	aGg/aTg	0	not done		possiblydamaging	
AEN		inserm.fr	GRCh37	15	89169591	89169591	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000332810.3:c.151G>A	p.Gly51Arg	p.G51R	ENST00000332810	NM_022767.3	51	Ggg/Agg	0	not done		probablydamaging	
EML5		inserm.fr	GRCh37	14	89181498	89181498	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000554922.1:c.1229C>T	p.Ala410Val	p.A410V	ENST00000554922	NM_183387.2	410	gCa/gTa	0	not done		benign	
EML5		inserm.fr	GRCh37	14	89193016	89193016	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1079T																					ENST00000554922.1:c.1056G>T	p.Trp352Cys	p.W352C	ENST00000554922	NM_183387.2	352	tgG/tgT	0	not done		probablydamaging	
CDH15		inserm.fr	GRCh37	16	89235325	89235325	+	non_coding_transcript_exon_variant	RNA	SNP	C	A	A			BCM423T																					ENST00000378340.1:n.1096C>A		*366*	ENST00000378340				0	validated			
EPHA3		inserm.fr	GRCh37	3	89259189	89259189	+	synonymous_variant	Silent	SNP	G	A	A			CHC1725T																					ENST00000336596.2:c.333G>A	p.Leu111=	p.L111=	ENST00000336596	NM_005233.5	111	ttG/ttA	0	not done		synonymous	
RIMKLB		inserm.fr	GRCh37	12	8926357	8926357	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB307T									Valid												ENST00000357529.3:c.1138G>A	p.Glu380Lys	p.E380K	ENST00000357529	NM_020734.2	380	Gaa/Aaa	0	validated		possiblydamaging	
PKN2		inserm.fr	GRCh37	1	89279328	89279328	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370521.3:c.2191G>A	p.Glu731Lys	p.E731K	ENST00000370521	NM_006256.2	731	Gag/Aag	0	not done		possiblydamaging	
ZNF778		inserm.fr	GRCh37	16	89294144	89294144	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000433976.2:c.1364G>A	p.Gly455Glu	p.G455E	ENST00000433976	NM_001201407.1	455	gGg/gAg	0	not done		probablydamaging	
ZNF778		inserm.fr	GRCh37	16	89300163	89300163	+	downstream_gene_variant	3'Flank	SNP	G	A	A			CHC1177T																								ENST00000433976	NM_001201407.1			0	not done			
ANKRD11		inserm.fr	GRCh37	16	89346820	89346820	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1568T																					ENST00000301030.4:c.6130G>T	p.Val2044Phe	p.V2044F	ENST00000301030	NM_001256183.1	2044	Gtc/Ttc	0	validated		possiblydamaging	
HERC6		inserm.fr	GRCh37	4	89356956	89356956	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC805T																					ENST00000264346.7:c.2330T>A	p.Leu777His	p.L777H	ENST00000264346	NM_017912.3	777	cTt/cAt	0	not done		probablydamaging	
HERC5		inserm.fr	GRCh37	4	89384746	89384746	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1061T									Valid												ENST00000264350.3:c.752G>A	p.Gly251Asp	p.G251D	ENST00000264350	NM_016323.3	251	gGt/gAt	0	validated		probablydamaging	
ACAN		inserm.fr	GRCh37	15	89386731	89386731	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000439576.2:c.903G>A	p.Trp301Ter	p.W301*	ENST00000439576	NM_013227.3	301	tgG/tgA	0	not done		damaging	
ACAN		inserm.fr	GRCh37	15	89388789	89388789	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000439576.2:c.1105G>A	p.Asp369Asn	p.D369N	ENST00000439576	NM_013227.3	369	Gac/Aac	0	not done		benign	
ACAN		inserm.fr	GRCh37	15	89395246	89395246	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000439576.2:c.2248G>A	p.Gly750Ser	p.G750S	ENST00000439576	NM_013227.3	750	Ggc/Agc	0	not done		possiblydamaging	
ACAN		inserm.fr	GRCh37	15	89398140	89398140	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC429T									Valid												ENST00000439576.2:c.2324C>A	p.Pro775His	p.P775H	ENST00000439576	NM_013227.3	775	cCt/cAt	0	validated		benign	
ACAN		inserm.fr	GRCh37	15	89399738	89399738	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC303T																					ENST00000439576.2:c.3922G>A	p.Ala1308Thr	p.A1308T	ENST00000439576	NM_013227.3	1308	Gct/Act	0	validated		benign	
ACAN		inserm.fr	GRCh37	15	89400800	89400800	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000439576.2:c.4984G>A	p.Val1662Met	p.V1662M	ENST00000439576	NM_013227.3	1662	Gtg/Atg	0	not done		probablydamaging	
FOLH1B		inserm.fr	GRCh37	11	89405076	89405076	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC892T																					ENST00000525540.1:n.729G>A		*243*	ENST00000525540				0	not done		probablydamaging	
HERC5		inserm.fr	GRCh37	4	89407327	89407327	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1775T																					ENST00000264350.3:c.1799G>A	p.Arg600His	p.R600H	ENST00000264350	NM_016323.3	600	cGt/cAt	0	validated		benign	
ACAN		inserm.fr	GRCh37	15	89417699	89417699	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2208T																					ENST00000439576.2:c.7580G>A	p.Ser2527Asn	p.S2527N	ENST00000439576	NM_013227.3	2527	aGc/aAc	0	not done		probablydamaging	
PAPSS2		inserm.fr	GRCh37	10	89474585	89474585	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1597T																					ENST00000456849.1:c.604T>A	p.Cys202Ser	p.C202S	ENST00000456849	NM_001015880.1	202	Tgt/Agt	0	not done		probablydamaging	
PAPSS2		inserm.fr	GRCh37	10	89475528	89475528	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000456849.1:c.793G>A	p.Ala265Thr	p.A265T	ENST00000456849	NM_001015880.1	265	Gcc/Acc	0	not done		probablydamaging	
TRIM49		inserm.fr	GRCh37	11	89536959	89536959	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC429T									Valid												ENST00000329758.1:c.414G>T	p.Glu138Asp	p.E138D	ENST00000329758	NM_020358.2	138	gaG/gaT	0	validated		possiblydamaging	
RNGTT		inserm.fr	GRCh37	6	89554120	89554120	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC303T									Valid												ENST00000369485.4:c.1225A>T	p.Ser409Cys	p.S409C	ENST00000369485	NM_003800.3	409	Agc/Tgc	0	validated		probablydamaging	
GAS1		inserm.fr	GRCh37	9	89560851	89560851	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC2034T																					ENST00000298743.7:c.844C>T	p.Gln282Ter	p.Q282*	ENST00000298743	NM_002048.2	282	Cag/Tag	0	not done		damaging	
GBP7		inserm.fr	GRCh37	1	89597944	89597944	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB307T																					ENST00000294671.2:c.1805G>T	p.Ser602Ile	p.S602I	ENST00000294671	NM_207398.2	602	aGt/aTt	0	validated		benign	
SPG7		inserm.fr	GRCh37	16	89620249	89620249	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000268704.2:c.1984G>A	p.Val662Met	p.V662M	ENST00000268704	NM_003119.2	662	Gtg/Atg	0	not done		probablydamaging	
KLLN		inserm.fr	GRCh37	10	89621999	89621999	+	synonymous_variant	Silent	SNP	G	A	A			CHC1774T																					ENST00000445946.3:c.246C>T	p.Ser82=	p.S82=	ENST00000445946	NM_001126049.1	82	agC/agT	0	validated		synonymous	
CPNE7		inserm.fr	GRCh37	16	89649912	89649912	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000268720.5:c.558G>A	p.Arg186=	p.R186=	ENST00000268720	NM_014427.4	186	agG/agA	0	not done		synonymous	
GBP4		inserm.fr	GRCh37	1	89659002	89659002	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2043T																					ENST00000355754.6:c.457G>T	p.Ala153Ser	p.A153S	ENST00000355754	NM_052941.4	153	Gcc/Tcc	0	validated		probablydamaging	
FAM13A		inserm.fr	GRCh37	4	89668948	89668948	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1185T																					ENST00000264344.5:c.2216G>T	p.Ser739Ile	p.S739I	ENST00000264344	NM_014883.3	739	aGc/aTc	0	not done		probablydamaging	
PTEN		inserm.fr	GRCh37	10	89692902	89692902	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1183T																					ENST00000371953.3:c.386G>A	p.Gly129Glu	p.G129E	ENST00000371953	NM_000314.4	129	gGa/gAa	0	not done		probablydamaging	
DPEP1		inserm.fr	GRCh37	16	89703938	89703938	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000393092.3:c.831G>A	p.Lys277=	p.K277=	ENST00000393092	NM_004413.3	277	aaG/aaA	0	not done		synonymous	
FAM13A		inserm.fr	GRCh37	4	89709016	89709016	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM683T																					ENST00000264344.5:c.1159C>T	p.Gln387Ter	p.Q387*	ENST00000264344	NM_014883.3	387	Caa/Taa	0	validated		damaging	
MUC16		inserm.fr	GRCh37	19	8974012	8974012	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1600T																					ENST00000397910.4:c.42659C>T	p.Ser14220Phe	p.S14220F	ENST00000397910	NM_024690.2	14220	tCc/tTc	0	not done		probablydamaging	
C9orf170		inserm.fr	GRCh37	9	89763778	89763778	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000375941.2:c.133G>A	p.Ala45Thr	p.A45T	ENST00000375941	NM_001001709.2	45	Gcc/Acc	0	not done		probablydamaging	
FANCI		inserm.fr	GRCh37	15	89804960	89804960	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000310775.7:c.433G>A	p.Ala145Thr	p.A145T	ENST00000310775	NM_001113378.1	145	Gct/Act	0	not done		benign	
FANCA		inserm.fr	GRCh37	16	89816221	89816221	+	synonymous_variant	Silent	SNP	G	A	A			CHC879T																					ENST00000389301.3:c.3156C>T	p.Phe1052=	p.F1052=	ENST00000389301	NM_000135.2	1052	ttC/ttT	0	not done		synonymous	
POLG		inserm.fr	GRCh37	15	89864981	89864981	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000268124.5:c.2584G>T	p.Ala862Ser	p.A862S	ENST00000268124	NM_001126131.1	862	Gcc/Tcc	0	validated		probablydamaging	
NAALAD2		inserm.fr	GRCh37	11	89867972	89867972	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000534061.1:c.46G>A	p.Ala16Thr	p.A16T	ENST00000534061	NM_005467.3	16	Gct/Act	0	not done		possiblydamaging	
GABRR1		inserm.fr	GRCh37	6	89888624	89888624	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000454853.2:c.1305C>T	p.Ser435=	p.S435=	ENST00000454853	NM_001256704.1	435	tcC/tcT	0	not done		synonymous	
GABRR1		inserm.fr	GRCh37	6	89891667	89891667	+	synonymous_variant	Silent	SNP	G	A	A			CHC429T																					ENST00000454853.2:c.906C>T	p.Ser302=	p.S302=	ENST00000454853	NM_001256704.1	302	tcC/tcT	0	validated		synonymous	
USP7		inserm.fr	GRCh37	16	8990890	8990890	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB109T																					ENST00000344836.4:c.2785G>T	p.Val929Leu	p.V929L	ENST00000344836	NM_003470.2	929	Gtg/Ttg	0	validated		benign	
NAALAD2		inserm.fr	GRCh37	11	89909212	89909212	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000534061.1:c.1575C>A	p.Ala525=	p.A525=	ENST00000534061	NM_005467.3	525	gcC/gcA	0	not done		synonymous	
A2ML1		inserm.fr	GRCh37	12	8990935	8990935	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1052T									Valid												ENST00000299698.7:c.859G>A	p.Asp287Asn	p.D287N	ENST00000299698	NM_144670.4	287	Gac/Aac	0	validated		benign	
GPR98		inserm.fr	GRCh37	5	89913666	89913666	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000405460.2:c.253G>A	p.Ala85Thr	p.A85T	ENST00000405460	NM_032119.3	85	Gct/Act	0	not done		benign	
GALNT4		inserm.fr	GRCh37	12	89917098	89917098	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1531T																					ENST00000529983.2:c.1229C>T	p.Ser410Phe	p.S410F	ENST00000529983	NM_003774.4	410	tCt/tTt	0	not done		probablydamaging	
SPIRE2		inserm.fr	GRCh37	16	89922620	89922620	+	synonymous_variant	Silent	SNP	C	A	A			BCM543T																					ENST00000378247.3:c.1078C>A	p.Arg360=	p.R360=	ENST00000378247	NM_032451.1	360	Cgg/Agg	0	validated		synonymous	
GPR98		inserm.fr	GRCh37	5	89923027	89923027	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000405460.2:c.673-1G>A		p.X225_splice	ENST00000405460	NM_032119.3			0	not done		damaging	
GPR98		inserm.fr	GRCh37	5	89925044	89925044	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000405460.2:c.1527G>A	p.Gln509=	p.Q509=	ENST00000405460	NM_032119.3	509	caG/caA	0	not done		synonymous	
MUC16		inserm.fr	GRCh37	19	8993431	8993431	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000397910.4:c.41658C>T	p.Thr13886=	p.T13886=	ENST00000397910	NM_024690.2	13886	acC/acT	0	not done		synonymous	
CHORDC1		inserm.fr	GRCh37	11	89938718	89938718	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000320585.6:c.579C>T	p.Ser193=	p.S193=	ENST00000320585	NM_012124.2	193	agC/agT	0	not done		synonymous	
A2ML1		inserm.fr	GRCh37	12	8994081	8994081	+	synonymous_variant	Silent	SNP	T	A	A			CHC2112T																					ENST00000299698.7:c.1197T>A	p.Ala399=	p.A399=	ENST00000299698	NM_144670.4	399	gcT/gcA	0	not done		synonymous	
CHORDC1		inserm.fr	GRCh37	11	89943708	89943708	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC121T																					ENST00000320585.6:c.488C>T	p.Ser163Leu	p.S163L	ENST00000320585	NM_012124.2	163	tCa/tTa	0	validated		benign	
GPR98		inserm.fr	GRCh37	5	89948243	89948243	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000405460.2:c.3497G>A	p.Gly1166Glu	p.G1166E	ENST00000405460	NM_032119.3	1166	gGg/gAg	0	not done		possiblydamaging	
GPR98		inserm.fr	GRCh37	5	89949770	89949770	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000405460.2:c.4378+1G>A		p.X1460_splice	ENST00000405460	NM_032119.3			0	not done		damaging	
TUBB3		inserm.fr	GRCh37	16	90001688	90001688	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000315491.7:c.829G>A	p.Gly277Ser	p.G277S	ENST00000315491	NM_006086.3	277	Ggc/Agc	0	not done		benign	
TUBB3		inserm.fr	GRCh37	16	90002201	90002201	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000315491.7:c.1342G>A	p.Gly448Ser	p.G448S	ENST00000315491	NM_006086.3	448	Ggc/Agc	0	not done		probablydamaging	
GPR98		inserm.fr	GRCh37	5	90041530	90041530	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM423T																					ENST00000405460.2:c.10892G>A	p.Gly3631Glu	p.G3631E	ENST00000405460	NM_032119.3	3631	gGa/gAa	0	validated		probablydamaging	
CLDN12		inserm.fr	GRCh37	7	90042057	90042057	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000535571.1:c.67G>A	p.Gly23Ser	p.G23S	ENST00000535571	NM_001185072.2	23	Ggc/Agc	0	not done		probablydamaging	
RNLS		inserm.fr	GRCh37	10	90045254	90045254	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1598T																					ENST00000331772.4:c.886G>T	p.Ala296Ser	p.A296S	ENST00000331772	NM_001031709.2	296	Gct/Tct	0	not done		benign	
LRRC8B		inserm.fr	GRCh37	1	90048528	90048528	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000330947.2:c.319G>A	p.Ala107Thr	p.A107T	ENST00000330947	NM_001134476.1	107	Gcc/Acc	0	not done		probablydamaging	
NRIP3		inserm.fr	GRCh37	11	9009802	9009802	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC801T																					ENST00000309166.3:c.202C>T	p.Leu68Phe	p.L68F	ENST00000309166	NM_020645.2	68	Ctc/Ttc	0	not done		probablydamaging	
TICRR		inserm.fr	GRCh37	15	90138735	90138735	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000268138.7:c.1793G>A	p.Gly598Asp	p.G598D	ENST00000268138		598	gGc/gAc	0	not done		benign	
TICRR		inserm.fr	GRCh37	15	90145130	90145130	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC432T																					ENST00000268138.7:c.2490T>A	p.Ser830Arg	p.S830R	ENST00000268138		830	agT/agA	0	not done		probablydamaging	
GPRIN3		inserm.fr	GRCh37	4	90170877	90170877	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000609438.1:c.385C>T	p.Pro129Ser	p.P129S	ENST00000609438	NM_198281.2	129	Ccc/Tcc	0	not done		probablydamaging	
KIF7		inserm.fr	GRCh37	15	90189143	90189143	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1052T																					ENST00000394412.3:c.1903C>T	p.Arg635Trp	p.R635W	ENST00000394412	NM_198525.2	635	Cgg/Tgg	0	validated		probablydamaging	
PLIN1		inserm.fr	GRCh37	15	90213459	90213459	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1750T																					ENST00000300055.5:c.350A>T	p.Lys117Met	p.K117M	ENST00000300055	NM_002666.4	117	aAg/aTg	0	not done		probablydamaging	
PEX11A		inserm.fr	GRCh37	15	90229736	90229736	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC884T									Valid												ENST00000300056.3:c.98A>T	p.Glu33Val	p.E33V	ENST00000300056	NM_001271572.1	33	gAg/gTg	0	validated		probablydamaging	
WDR93		inserm.fr	GRCh37	15	90281292	90281292	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1744T																					ENST00000268130.7:c.1786G>A	p.Ala596Thr	p.A596T	ENST00000268130	NM_020212.1	596	Gcg/Acg	0	validated		benign	
WDR93		inserm.fr	GRCh37	15	90281293	90281293	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1744T																					ENST00000268130.7:c.1787C>A	p.Ala596Glu	p.A596E	ENST00000268130	NM_020212.1	596	gCg/gAg	0	validated		benign	
DAPK1		inserm.fr	GRCh37	9	90296386	90296386	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM617T																					ENST00000408954.3:c.2069T>A	p.Leu690His	p.L690H	ENST00000408954	NM_004938.2	690	cTc/cAc	0	validated		probablydamaging	
CA6		inserm.fr	GRCh37	1	9030990	9030990	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000377436.3:c.794G>A	p.Arg265Lys	p.R265K	ENST00000377436	NM_001270500.1	265	aGg/aAg	0	not done		benign	
DAPK1		inserm.fr	GRCh37	9	90315141	90315141	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2110Tbis																					ENST00000408954.3:c.2860C>A	p.Gln954Lys	p.Q954K	ENST00000408954	NM_004938.2	954	Cag/Aag	0	not done		benign	
DAPK1		inserm.fr	GRCh37	9	90318022	90318022	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC896T																					ENST00000408954.3:c.2950C>A	p.Gln984Lys	p.Q984K	ENST00000408954	NM_004938.2	984	Cag/Aag	0	not done		probablydamaging	
MESP2		inserm.fr	GRCh37	15	90319855	90319855	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000341735.3:c.267G>A	p.Arg89=	p.R89=	ENST00000341735	NM_001039958.1	89	cgG/cgA	0	not done		synonymous	
DAPK1		inserm.fr	GRCh37	9	90322150	90322150	+	synonymous_variant	Silent	SNP	C	A	A			CHC155T																					ENST00000408954.3:c.4164C>A	p.Ala1388=	p.A1388=	ENST00000408954	NM_004938.2	1388	gcC/gcA	0	validated		synonymous	
SRGAP3		inserm.fr	GRCh37	3	9032375	9032375	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1186T																					ENST00000383836.3:c.2707C>T	p.Arg903Trp	p.R903W	ENST00000383836	NM_014850.3	903	Cgg/Tgg	0	not done		probablydamaging	
CTSL1		inserm.fr	GRCh37	9	90343573	90343573	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000343150.5:c.470G>A	p.Arg157Lys	p.R157K	ENST00000343150		157	aGg/aAg	0	not done		benign	
LYRM2		inserm.fr	GRCh37	6	90348431	90348431	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1717T																					ENST00000523377.1:c.5C>T	p.Ala2Val	p.A2V	ENST00000523377	NM_020466.4	2	gCt/gTt	0	not done		benign	
LRRC8D		inserm.fr	GRCh37	1	90399153	90399153	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1182T																					ENST00000337338.5:c.526C>A	p.Leu176Ile	p.L176I	ENST00000337338	NM_001134479.1	176	Ctc/Atc	0	not done		probablydamaging	
MUC16		inserm.fr	GRCh37	19	9049799	9049799	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM337T																					ENST00000397910.4:c.31832C>T	p.Ser10611Phe	p.S10611F	ENST00000397910	NM_024690.2	10611	tCc/tTc	0	validated		probablydamaging	
FAM75C1		inserm.fr	GRCh37	9	90534230	90534230	+	non_coding_transcript_exon_variant	RNA	SNP	C	A	A			CHC1044T																					ENST00000420021.2:n.547C>A		*183*	ENST00000420021				0	not done		benign	
CDK14		inserm.fr	GRCh37	7	90585099	90585099	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1747T																					ENST00000265741.3:c.860G>A	p.Gly287Asp	p.G287D	ENST00000265741	NM_012395.2	287	gGc/gAc	0	not done		probablydamaging	
MUC16		inserm.fr	GRCh37	19	9059619	9059619	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC961T																					ENST00000397910.4:c.27827G>T	p.Ser9276Ile	p.S9276I	ENST00000397910	NM_024690.2	9276	aGt/aTt	0	validated		benign	
MUC16		inserm.fr	GRCh37	19	9060346	9060346	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000397910.4:c.27100G>T	p.Asp9034Tyr	p.D9034Y	ENST00000397910	NM_024690.2	9034	Gac/Tac	0	not done		benign	
ZNF710		inserm.fr	GRCh37	15	90611278	90611278	+	synonymous_variant	Silent	SNP	C	A	A			BCM723T																					ENST00000268154.4:c.909C>A	p.Ser303=	p.S303=	ENST00000268154	NM_198526.2	303	tcC/tcA	0	validated		synonymous	
ZNF710		inserm.fr	GRCh37	15	90611616	90611616	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1743T																					ENST00000268154.4:c.1247T>A	p.Phe416Tyr	p.F416Y	ENST00000268154	NM_198526.2	416	tTc/tAc	0	not done		probablydamaging	
MUC16		inserm.fr	GRCh37	19	9062619	9062619	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000397910.4:c.24827C>T	p.Thr8276Ile	p.T8276I	ENST00000397910	NM_024690.2	8276	aCc/aTc	0	not done		benign	
MUC16		inserm.fr	GRCh37	19	9063136	9063136	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC314T									Valid												ENST00000397910.4:c.24310G>T	p.Gly8104Cys	p.G8104C	ENST00000397910	NM_024690.2	8104	Ggc/Tgc	0	validated		probablydamaging	
PLEKHN1		inserm.fr	GRCh37	1	906330	906330	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1205T																					ENST00000379410.3:c.556G>A	p.Glu186Lys	p.E186K	ENST00000379410	NM_032129.2	186	Gag/Aag	0	validated		probablydamaging	
MUC16		inserm.fr	GRCh37	19	9063397	9063397	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1192T																					ENST00000397910.4:c.24049C>T	p.His8017Tyr	p.H8017Y	ENST00000397910	NM_024690.2	8017	Cac/Tac	0	not done		possiblydamaging	
KCNK13		inserm.fr	GRCh37	14	90650907	90650907	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000282146.4:c.787G>A	p.Val263Ile	p.V263I	ENST00000282146	NM_022054.3	263	Gtc/Atc	0	validated		benign	
MUC16		inserm.fr	GRCh37	19	9065576	9065576	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000397910.4:c.21870C>T	p.Ser7290=	p.S7290=	ENST00000397910	NM_024690.2	7290	tcC/tcT	0	not done		synonymous	
BACH2		inserm.fr	GRCh37	6	90660325	90660325	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000257749.4:c.1500C>T	p.Cys500=	p.C500=	ENST00000257749	NM_021813.2	500	tgC/tgT	0	validated		synonymous	
MUC16		inserm.fr	GRCh37	19	9067199	9067199	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000397910.4:c.20247C>T	p.Gly6749=	p.G6749=	ENST00000397910	NM_024690.2	6749	ggC/ggT	0	not done		synonymous	
MUC16		inserm.fr	GRCh37	19	9067919	9067919	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000397910.4:c.19527C>T	p.Ser6509=	p.S6509=	ENST00000397910	NM_024690.2	6509	agC/agT	0	not done		synonymous	
PABPC5		inserm.fr	GRCh37	X	90690719	90690719	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1604T																					ENST00000312600.3:c.143G>A	p.Arg48Gln	p.R48Q	ENST00000312600	NM_080832.2	48	cGa/cAa	0	not done		probablydamaging	
PABPC5		inserm.fr	GRCh37	X	90691331	90691331	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000312600.3:c.755C>A	p.Ala252Asp	p.A252D	ENST00000312600	NM_080832.2	252	gCc/gAc	0	not done		probablydamaging	
PABPC5		inserm.fr	GRCh37	X	90691350	90691350	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000312600.3:c.774C>A	p.Asp258Glu	p.D258E	ENST00000312600	NM_080832.2	258	gaC/gaA	0	not done		benign	
SCUBE2		inserm.fr	GRCh37	11	9072212	9072212	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000520467.1:c.1580G>T	p.Gly527Val	p.G527V	ENST00000520467	NM_020974.2	527	gGc/gTc	0	not done		possiblydamaging	
MUC16		inserm.fr	GRCh37	19	9073305	9073305	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T																					ENST00000397910.4:c.14141G>T	p.Gly4714Val	p.G4714V	ENST00000397910	NM_024690.2	4714	gGg/gTg	0	validated		possiblydamaging	
MUC16		inserm.fr	GRCh37	19	9073514	9073514	+	synonymous_variant	Silent	SNP	T	A	A			CHC1148T																					ENST00000397910.4:c.13932A>T	p.Thr4644=	p.T4644=	ENST00000397910	NM_024690.2	4644	acA/acT	0	not done		synonymous	
MUC16		inserm.fr	GRCh37	19	9074317	9074317	+	synonymous_variant	Silent	SNP	G	A	A			CHC2098T																					ENST00000397910.4:c.13129C>T	p.Leu4377=	p.L4377=	ENST00000397910	NM_024690.2	4377	Ctg/Ttg	0	not done		synonymous	
MUC16		inserm.fr	GRCh37	19	9075713	9075713	+	synonymous_variant	Silent	SNP	G	A	A			CHC429T																					ENST00000397910.4:c.11733C>T	p.Asp3911=	p.D3911=	ENST00000397910	NM_024690.2	3911	gaC/gaT	0	validated		synonymous	
MUC16		inserm.fr	GRCh37	19	9076740	9076740	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000397910.4:c.10706C>T	p.Ala3569Val	p.A3569V	ENST00000397910	NM_024690.2	3569	gCc/gTc	0	not done		possiblydamaging	
CIB1		inserm.fr	GRCh37	15	90774432	90774432	+	synonymous_variant	Silent	SNP	G	A	A			CHC1738T																					ENST00000328649.6:c.360C>T	p.Asp120=	p.D120=	ENST00000328649	NM_006384.3	120	gaC/gaT	0	not done		synonymous	
PLEKHN1		inserm.fr	GRCh37	1	907781	907781	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1595T																					ENST00000379410.3:c.979G>A	p.Ala327Thr	p.A327T	ENST00000379410	NM_032129.2	327	Gcc/Acc	0	validated		benign	
GDPGP1		inserm.fr	GRCh37	15	90784884	90784884	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000558017.1:c.744G>A	p.Gln248=	p.Q248=	ENST00000558017	NM_001013657.2	248	caG/caA	0	not done		synonymous	
MUC16		inserm.fr	GRCh37	19	9082639	9082639	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000397910.4:c.9176C>T	p.Pro3059Leu	p.P3059L	ENST00000397910	NM_024690.2	3059	cCt/cTt	0	not done		probablydamaging	
NTN1		inserm.fr	GRCh37	17	9083242	9083242	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000173229.2:c.1326G>A	p.Gln442=	p.Q442=	ENST00000173229	NM_004822.2	442	caG/caA	0	not done		synonymous	
MUC16		inserm.fr	GRCh37	19	9083703	9083703	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000397910.4:c.8112C>T	p.Asn2704=	p.N2704=	ENST00000397910	NM_024690.2	2704	aaC/aaT	0	not done		synonymous	
MUC16		inserm.fr	GRCh37	19	9084255	9084255	+	synonymous_variant	Silent	SNP	G	A	A			CHC433T																					ENST00000397910.4:c.7560C>T	p.Leu2520=	p.L2520=	ENST00000397910	NM_024690.2	2520	ctC/ctT	0	validated		synonymous	
MMRN1		inserm.fr	GRCh37	4	90857536	90857536	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000394980.1:c.2705G>A	p.Arg902Lys	p.R902K	ENST00000394980		902	aGa/aAa	0	not done		benign	
MUC16		inserm.fr	GRCh37	19	9087101	9087101	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			BCM321T																					ENST00000397910.4:c.4714A>T	p.Lys1572Ter	p.K1572*	ENST00000397910	NM_024690.2	1572	Aaa/Taa	0	validated		damaging	
MUC16		inserm.fr	GRCh37	19	9088854	9088854	+	synonymous_variant	Silent	SNP	G	A	A			CHC1205T																					ENST00000397910.4:c.2961C>T	p.Thr987=	p.T987=	ENST00000397910	NM_024690.2	987	acC/acT	0	not done		synonymous	
PHC1		inserm.fr	GRCh37	12	9089799	9089799	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1201T																					ENST00000543824.1:c.2505C>A	p.Phe835Leu	p.F835L	ENST00000543824		835	ttC/ttA	0	not done		benign	
MUC16		inserm.fr	GRCh37	19	9091719	9091719	+	synonymous_variant	Silent	SNP	T	A	A			CHC1192T																					ENST00000397910.4:c.96A>T	p.Ser32=	p.S32=	ENST00000397910	NM_024690.2	32	tcA/tcT	0	not done		synonymous	
NBN		inserm.fr	GRCh37	8	90983401	90983401	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1569T																					ENST00000265433.3:c.702G>T	p.Gln234His	p.Q234H	ENST00000265433	NM_002485.4	234	caG/caT	0	not done		damaging	
IQGAP1		inserm.fr	GRCh37	15	90997688	90997688	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000268182.5:c.1516G>A	p.Ala506Thr	p.A506T	ENST00000268182	NM_003870.3	506	Gct/Act	0	not done		benign	
IQGAP1		inserm.fr	GRCh37	15	90997756	90997756	+	synonymous_variant	Silent	SNP	G	A	A			BCM783T																					ENST00000268182.5:c.1584G>A	p.Val528=	p.V528=	ENST00000268182	NM_003870.3	528	gtG/gtA	0	validated		synonymous	
IQGAP1		inserm.fr	GRCh37	15	91020931	91020931	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000268182.5:c.3139G>A	p.Gly1047Arg	p.G1047R	ENST00000268182	NM_003870.3	1047	Gga/Aga	0	not done		probablydamaging	
CALB1		inserm.fr	GRCh37	8	91081243	91081243	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1545T																					ENST00000265431.3:c.355G>T	p.Glu119Ter	p.E119*	ENST00000265431	NM_004929.2	119	Gaa/Taa	0	validated		damaging	
CALB1		inserm.fr	GRCh37	8	91081258	91081258	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB325T									Valid												ENST00000265431.3:c.340C>T	p.His114Tyr	p.H114Y	ENST00000265431	NM_004929.2	114	Cac/Tac	0	validated		probablydamaging	
CRTC3		inserm.fr	GRCh37	15	91083317	91083317	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000268184.6:c.179G>A	p.Gly60Glu	p.G60E	ENST00000268184		60	gGa/gAa	0	not done		probablydamaging	
IFIT1B		inserm.fr	GRCh37	10	91143283	91143283	+	synonymous_variant	Silent	SNP	C	A	A			CHC433T																					ENST00000371809.3:c.213C>A	p.Ala71=	p.A71=	ENST00000371809	NM_001010987.2	71	gcC/gcA	0	validated		synonymous	
NXNL2		inserm.fr	GRCh37	9	91159455	91159455	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1601T																					ENST00000375854.3:c.464C>A	p.Ser155Tyr	p.S155Y	ENST00000375854	NM_001161625.1	155	tCc/tAc	0	not done		possiblydamaging	
C1orf170		inserm.fr	GRCh37	1	911609	911609	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000433179.2:c.2034C>T	p.Tyr678=	p.Y678=	ENST00000433179		678	taC/taT	0	not done		synonymous	
CCSER1		inserm.fr	GRCh37	4	91230708	91230708	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC793T																					ENST00000509176.1:c.1273C>A	p.His425Asn	p.H425N	ENST00000509176	NM_001145065.1	425	Cat/Aat	0	validated		probablydamaging	
SUN1		inserm.fr	GRCh37	7	912885	912885	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1185T																					ENST00000401592.1:c.2275G>A	p.Glu759Lys	p.E759K	ENST00000401592	NM_001130965.2	759	Gaa/Aaa	0	not done		probablydamaging	
BLM		inserm.fr	GRCh37	15	91303495	91303495	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000355112.3:c.1206G>A	p.Gln402=	p.Q402=	ENST00000355112	NM_000057.2	402	caG/caA	0	not done		synonymous	
BLM		inserm.fr	GRCh37	15	91306322	91306322	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1081T																					ENST00000355112.3:c.2009C>A	p.Thr670Asn	p.T670N	ENST00000355112	NM_000057.2	670	aCt/aAt	0	validated		probablydamaging	
BLM		inserm.fr	GRCh37	15	91328289	91328289	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000355112.3:c.2801G>A	p.Trp934Ter	p.W934*	ENST00000355112	NM_000057.2	934	tGg/tAg	0	not done		damaging	
RPS6KA5		inserm.fr	GRCh37	14	91341654	91341654	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM759T																					ENST00000261991.3:c.1887G>T	p.Leu629Phe	p.L629F	ENST00000261991	NM_004755.2	629	ttG/ttT	0	validated		benign	
RPS6KA5		inserm.fr	GRCh37	14	91360851	91360851	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1747T																					ENST00000261991.3:c.1550G>T	p.Ser517Ile	p.S517I	ENST00000261991	NM_004755.2	517	aGt/aTt	0	not done		probablydamaging	
RPS6KA5		inserm.fr	GRCh37	14	91360892	91360892	+	synonymous_variant	Silent	SNP	T	A	A			CHC1603T																					ENST00000261991.3:c.1509A>T	p.Gly503=	p.G503=	ENST00000261991	NM_004755.2	503	ggA/ggT	0	not done		synonymous	
PANK1		inserm.fr	GRCh37	10	91404750	91404750	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB325T									Valid												ENST00000307534.4:c.310C>T	p.Arg104Trp	p.R104W	ENST00000307534	NM_148977.2	104	Cgg/Tgg	0	validated		probablydamaging	
FURIN		inserm.fr	GRCh37	15	91422033	91422033	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000268171.3:c.880G>A	p.Gly294Arg	p.G294R	ENST00000268171	NM_002569.2	294	Ggg/Agg	0	not done		probablydamaging	
FURIN		inserm.fr	GRCh37	15	91422916	91422916	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC884T									Valid												ENST00000268171.3:c.1170G>A	p.Trp390Ter	p.W390*	ENST00000268171	NM_002569.2	390	tgG/tgA	0	validated		damaging	
FURIN		inserm.fr	GRCh37	15	91424017	91424017	+	synonymous_variant	Silent	SNP	T	A	A			CHC1704T																					ENST00000268171.3:c.1653T>A	p.Ile551=	p.I551=	ENST00000268171	NM_002569.2	551	atT/atA	0	not done		synonymous	
KERA		inserm.fr	GRCh37	12	91449576	91449576	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000266719.3:c.483C>T	p.Thr161=	p.T161=	ENST00000266719	NM_007035.3	161	acC/acT	0	not done		synonymous	
PCDH11X		inserm.fr	GRCh37	X	91456373	91456373	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC429T									Valid												ENST00000373094.1:c.3034-1G>A		p.X1012_splice	ENST00000373094	NM_032968.3			0	validated		damaging	
UNC45A		inserm.fr	GRCh37	15	91483656	91483656	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000418476.2:c.640G>A	p.Ala214Thr	p.A214T	ENST00000418476	NM_018671.3	214	Gcg/Acg	0	not done		possiblydamaging	
AKAP9		inserm.fr	GRCh37	7	91630501	91630501	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2351T																					ENST00000356239.3:c.1270C>A	p.Gln424Lys	p.Q424K	ENST00000356239	NM_147185.2	424	Caa/Aaa	0	not done		benign	
AKAP9		inserm.fr	GRCh37	7	91630614	91630614	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000356239.3:c.1383G>A	p.Glu461=	p.E461=	ENST00000356239	NM_147185.2	461	gaG/gaA	0	not done		synonymous	
SHC3		inserm.fr	GRCh37	9	91667023	91667023	+	synonymous_variant	Silent	SNP	G	A	A			CHC1591T																					ENST00000375835.4:c.891C>T	p.Ile297=	p.I297=	ENST00000375835	NM_016848.5	297	atC/atT	0	not done		synonymous	
AKAP9		inserm.fr	GRCh37	7	91682152	91682152	+	synonymous_variant	Silent	SNP	G	A	A			CHC1534T																					ENST00000356239.3:c.5481G>A	p.Arg1827=	p.R1827=	ENST00000356239	NM_147185.2	1827	agG/agA	0	validated		synonymous	
CCDC88C		inserm.fr	GRCh37	14	91755603	91755603	+	synonymous_variant	Silent	SNP	G	A	A			CHC2215T																					ENST00000389857.6:c.4287C>T	p.Thr1429=	p.T1429=	ENST00000389857	NM_001080414.3	1429	acC/acT	0	not done		synonymous	
SV2B		inserm.fr	GRCh37	15	91769908	91769908	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1746T																					ENST00000394232.1:c.415G>A	p.Asp139Asn	p.D139N	ENST00000394232	NM_014848.4	139	Gac/Aac	0	not done		probablydamaging	
CCDC88C		inserm.fr	GRCh37	14	91780079	91780079	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1736T																					ENST00000389857.6:c.2081G>T	p.Gly694Val	p.G694V	ENST00000389857	NM_001080414.3	694	gGc/gTc	0	not done		benign	
HFM1		inserm.fr	GRCh37	1	91813028	91813028	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1534T																					ENST00000370425.3:c.2212G>T	p.Ala738Ser	p.A738S	ENST00000370425	NM_001017975.3	738	Gca/Tca	0	validated		benign	
PCDH11X		inserm.fr	GRCh37	X	91873287	91873287	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC429T									Valid												ENST00000373094.1:c.3392C>A	p.Thr1131Asn	p.T1131N	ENST00000373094	NM_032968.3	1131	aCt/aAt	0	validated		probablydamaging	
GPR157		inserm.fr	GRCh37	1	9189005	9189005	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2113T																					ENST00000377411.4:c.82G>T	p.Gly28Cys	p.G28C	ENST00000377411	NM_024980.4	28	Ggc/Tgc	0	not done		probablydamaging	
C8orf88		inserm.fr	GRCh37	8	91983341	91983341	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1190T																					ENST00000517562.2:c.176C>T	p.Ser59Phe	p.S59F	ENST00000517562	NM_001190972.1	59	tCt/tTt	0	validated			
DENND5A		inserm.fr	GRCh37	11	9200611	9200611	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM337T																					ENST00000328194.3:c.1465C>T	p.Arg489Cys	p.R489C	ENST00000328194	NM_015213.3	489	Cgt/Tgt	0	validated		probablydamaging	
TMEM55A		inserm.fr	GRCh37	8	92008920	92008920	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC917T																					ENST00000285419.3:c.592A>T	p.Ile198Phe	p.I198F	ENST00000285419	NM_018710.2	198	Att/Ttt	0	validated		benign	
DENND5A		inserm.fr	GRCh37	11	9202506	9202506	+	synonymous_variant	Silent	SNP	G	A	A			CHC2048T																					ENST00000328194.3:c.1263C>T	p.Pro421=	p.P421=	ENST00000328194	NM_015213.3	421	ccC/ccT	0	not done		synonymous	
OR1M1		inserm.fr	GRCh37	19	9204590	9204590	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000429566.3:c.670G>A	p.Ala224Thr	p.A224T	ENST00000429566	NM_001004456.1	224	Gcc/Acc	0	not done		probablydamaging	
GATAD1		inserm.fr	GRCh37	7	92078164	92078164	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000287957.3:c.348G>A	p.Gly116=	p.G116=	ENST00000287957	NM_021167.4	116	ggG/ggA	0	not done		synonymous	
GATAD1		inserm.fr	GRCh37	7	92083938	92083938	+	synonymous_variant	Silent	SNP	G	A	A			CHC1741T																					ENST00000287957.3:c.558G>A	p.Thr186=	p.T186=	ENST00000287957	NM_021167.4	186	acG/acA	0	not done		synonymous	
FAT3		inserm.fr	GRCh37	11	92086194	92086194	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC301T									Valid												ENST00000298047.6:c.916G>A	p.Gly306Arg	p.G306R	ENST00000298047		306	Ggg/Agg	0	validated		probablydamaging	
FAT3		inserm.fr	GRCh37	11	92086446	92086446	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC793T									Valid												ENST00000298047.6:c.1168C>A	p.Pro390Thr	p.P390T	ENST00000298047		390	Cct/Act	0	validated		probablydamaging	
FAT3		inserm.fr	GRCh37	11	92088180	92088180	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000298047.6:c.2902G>A	p.Gly968Arg	p.G968R	ENST00000298047		968	Ggg/Agg	0	not done		probablydamaging	
OR7G2		inserm.fr	GRCh37	19	9213750	9213750	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000305456.2:c.233C>T	p.Thr78Ile	p.T78I	ENST00000305456	NM_001005193.1	78	aCc/aTc	0	not done		benign	
CATSPERB		inserm.fr	GRCh37	14	92171042	92171042	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T									Valid												ENST00000256343.3:c.470C>T	p.Pro157Leu	p.P157L	ENST00000256343	NM_024764.2	157	cCg/cTg	0	validated		probablydamaging	
TGFBR3		inserm.fr	GRCh37	1	92182200	92182200	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000212355.4:c.1632G>T	p.Glu544Asp	p.E544D	ENST00000212355	NM_001195683.1	544	gaG/gaT	0	not done		probablydamaging	
TC2N		inserm.fr	GRCh37	14	92264242	92264242	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC433T									Valid												ENST00000435962.2:c.742A>T	p.Arg248Ter	p.R248*	ENST00000435962	NM_001128596.1	248	Aga/Tga	0	validated		damaging	
A2M		inserm.fr	GRCh37	12	9227282	9227282	+	synonymous_variant	Silent	SNP	G	A	A			BCB151T																					ENST00000318602.7:c.3630C>T	p.Ser1210=	p.S1210=	ENST00000318602	NM_000014.4	1210	tcC/tcT	0	validated		synonymous	
FBLN5		inserm.fr	GRCh37	14	92336597	92336597	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000342058.4:c.1318C>T	p.Arg440Trp	p.R440W	ENST00000342058	NM_006329.3	440	Cgg/Tgg	0	validated		probablydamaging	
GPC5		inserm.fr	GRCh37	13	92345808	92345808	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000377067.3:c.693G>A	p.Leu231=	p.L231=	ENST00000377067	NM_004466.4	231	ctG/ctA	0	not done		synonymous	
FBLN5		inserm.fr	GRCh37	14	92349302	92349302	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000342058.4:c.858C>T	p.Cys286=	p.C286=	ENST00000342058	NM_006329.3	286	tgC/tgT	0	not done		synonymous	
FBLN5		inserm.fr	GRCh37	14	92349318	92349318	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1745T																					ENST00000342058.4:c.842A>T	p.Asp281Val	p.D281V	ENST00000342058	NM_006329.3	281	gAt/gTt	0	not done		probablydamaging	
FBLN5		inserm.fr	GRCh37	14	92409264	92409264	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000342058.4:c.59C>T	p.Pro20Leu	p.P20L	ENST00000342058	NM_006329.3	20	cCt/cTt	0	not done		benign	
A2M		inserm.fr	GRCh37	12	9246077	9246077	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000318602.7:c.2224G>T	p.Asp742Tyr	p.D742Y	ENST00000318602	NM_000014.4	742	Gat/Tat	0	not done		possiblydamaging	
EPHX4		inserm.fr	GRCh37	1	92495768	92495768	+	synonymous_variant	Silent	SNP	C	A	A			CHC322T																					ENST00000370383.4:c.132C>A	p.Gly44=	p.G44=	ENST00000370383	NM_173567.4	44	ggC/ggA	0	validated		synonymous	
EPHX4		inserm.fr	GRCh37	1	92508389	92508389	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370383.4:c.327G>A	p.Trp109Ter	p.W109*	ENST00000370383	NM_173567.4	109	tgG/tgA	0	not done		damaging	
FAT3		inserm.fr	GRCh37	11	92523169	92523169	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1720T																					ENST00000298047.6:c.4396G>A	p.Asp1466Asn	p.D1466N	ENST00000298047		1466	Gat/Aat	0	not done		benign	
FAT3		inserm.fr	GRCh37	11	92526097	92526097	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC437T																					ENST00000298047.6:c.4776C>A	p.Asp1592Glu	p.D1592E	ENST00000298047		1592	gaC/gaA	0	not done		probablydamaging	
FAT3		inserm.fr	GRCh37	11	92569863	92569863	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000298047.6:c.10218G>A	p.Arg3406=	p.R3406=	ENST00000298047		3406	cgG/cgA	0	not done		synonymous	
ANKRD12		inserm.fr	GRCh37	18	9257442	9257442	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262126.4:c.4177G>A	p.Ala1393Thr	p.A1393T	ENST00000262126	NM_015208.4	1393	Gcc/Acc	0	not done		benign	
FAT3		inserm.fr	GRCh37	11	92577151	92577151	+	synonymous_variant	Silent	SNP	C	A	A			CHC1594T																					ENST00000298047.6:c.10618C>A	p.Arg3540=	p.R3540=	ENST00000298047		3540	Cga/Aga	0	not done		synonymous	
FAT3		inserm.fr	GRCh37	11	92600199	92600199	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000298047.6:c.11951G>A	p.Gly3984Asp	p.G3984D	ENST00000298047		3984	gGc/gAc	0	not done		probablydamaging	
CPSF2		inserm.fr	GRCh37	14	92600404	92600404	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC889T																					ENST00000298875.4:c.199C>A	p.His67Asn	p.H67N	ENST00000298875	NM_017437.2	67	Cac/Aac	0	not done		probablydamaging	
CPSF2		inserm.fr	GRCh37	14	92622914	92622914	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000298875.4:c.1534G>A	p.Asp512Asn	p.D512N	ENST00000298875	NM_017437.2	512	Gat/Aat	0	not done		benign	
BTBD8		inserm.fr	GRCh37	1	92646586	92646586	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370378.4:c.2032G>A	p.Gly678Arg	p.G678R	ENST00000370378	NM_015237.2	678	Ggg/Agg	0	not done		benign	
SLCO3A1		inserm.fr	GRCh37	15	92706084	92706084	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2115T																					ENST00000318445.6:c.1852G>A	p.Asp618Asn	p.D618N	ENST00000318445	NM_013272.3	618	Gac/Aac	0	not done		possiblydamaging	
ZNF317		inserm.fr	GRCh37	19	9270920	9270920	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC796T									Valid												ENST00000247956.6:c.599G>A	p.Gly200Glu	p.G200E	ENST00000247956	NM_020933.4	200	gGg/gAg	0	validated		possiblydamaging	
ZNF317		inserm.fr	GRCh37	19	9271760	9271760	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000247956.6:c.1439G>A	p.Gly480Glu	p.G480E	ENST00000247956	NM_020933.4	480	gGg/gAg	0	not done		probablydamaging	
ZNF317		inserm.fr	GRCh37	19	9271794	9271794	+	synonymous_variant	Silent	SNP	G	A	A			BCM695T																					ENST00000247956.6:c.1473G>A	p.Arg491=	p.R491=	ENST00000247956	NM_020933.4	491	agG/agA	0	validated		synonymous	
SAMD9		inserm.fr	GRCh37	7	92731165	92731165	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			BCM439T																					ENST00000379958.2:c.4246C>T	p.Arg1416Ter	p.R1416*	ENST00000379958	NM_017654.3	1416	Cga/Tga	0	validated		damaging	
SAMD9		inserm.fr	GRCh37	7	92731890	92731890	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1205T																					ENST00000379958.2:c.3521A>T	p.Glu1174Val	p.E1174V	ENST00000379958	NM_017654.3	1174	gAg/gTg	0	not done		possiblydamaging	
SAMD9		inserm.fr	GRCh37	7	92732687	92732687	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1736T																					ENST00000379958.2:c.2724G>T	p.Gln908His	p.Q908H	ENST00000379958	NM_017654.3	908	caG/caT	0	not done		probablydamaging	
SAMD9L		inserm.fr	GRCh37	7	92763298	92763298	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000318238.4:c.1987G>T	p.Glu663Ter	p.E663*	ENST00000318238	NM_152703.2	663	Gag/Tag	0	not done		damaging	
GPC5		inserm.fr	GRCh37	13	92797132	92797132	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1725T																					ENST00000377067.3:c.1451T>A	p.Leu484Gln	p.L484Q	ENST00000377067	NM_004466.4	484	cTg/cAg	0	not done		benign	
RPAP2		inserm.fr	GRCh37	1	92798967	92798967	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1626T																					ENST00000610020.1:c.1475T>A	p.Leu492Gln	p.L492Q	ENST00000610020	NM_024813.2	492	cTg/cAg	0	not done		probablydamaging	
ANKRD12		inserm.fr	GRCh37	18	9280972	9280972	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000262126.4:c.6037G>A	p.Ala2013Thr	p.A2013T	ENST00000262126	NM_015208.4	2013	Gcg/Acg	0	not done		probablydamaging	
CCDC132		inserm.fr	GRCh37	7	92938143	92938143	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2127T																					ENST00000305866.5:c.1637C>A	p.Ser546Tyr	p.S546Y	ENST00000305866	NM_017667.3	546	tCt/tAt	0	not done		probablydamaging	
OR7D2		inserm.fr	GRCh37	19	9297075	9297075	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000344248.2:c.618G>A	p.Leu206=	p.L206=	ENST00000344248	NM_175883.2	206	ctG/ctA	0	not done		synonymous	
ST8SIA2		inserm.fr	GRCh37	15	92988024	92988024	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000268164.3:c.707G>A	p.Ser236Asn	p.S236N	ENST00000268164	NM_006011.3	236	aGc/aAc	0	not done		probablydamaging	
RUNX1T1		inserm.fr	GRCh37	8	93003906	93003906	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1601T																					ENST00000436581.2:c.985C>T	p.Pro329Ser	p.P329S	ENST00000436581		329	Ccc/Tcc	0	not done		benign	
RUNX1T1		inserm.fr	GRCh37	8	93029589	93029589	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC469T																					ENST00000436581.2:c.124C>T	p.Arg42Cys	p.R42C	ENST00000436581		42	Cgt/Tgt	0	validated		benign	
CALCR		inserm.fr	GRCh37	7	93090231	93090231	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359558.2:c.652C>T	p.His218Tyr	p.H218Y	ENST00000359558	NM_001164737.1	218	Cac/Tac	0	not done		probablydamaging	
C12orf74		inserm.fr	GRCh37	12	93100601	93100601	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1192T																					ENST00000397833.3:c.194C>A	p.Ala65Asp	p.A65D	ENST00000397833	NM_001178097.2	65	gCc/gAc	0	not done		possiblydamaging	
RIN3		inserm.fr	GRCh37	14	93125805	93125805	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000216487.7:c.2326G>A	p.Gly776Ser	p.G776S	ENST00000216487	NM_024832.3	776	Ggc/Agc	0	not done		probablydamaging	
EVI5		inserm.fr	GRCh37	1	93159414	93159414	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC923T																					ENST00000370331.1:c.1174G>T	p.Asp392Tyr	p.D392Y	ENST00000370331	NM_005665.4	392	Gac/Tac	0	not done		probablydamaging	
OR7D4		inserm.fr	GRCh37	19	9324740	9324740	+	synonymous_variant	Silent	SNP	G	A	A			CHC2358T																					ENST00000308682.2:c.774C>T	p.Val258=	p.V258=	ENST00000308682	NM_001005191.2	258	gtC/gtT	0	validated		synonymous	
GOLGA5		inserm.fr	GRCh37	14	93264041	93264041	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000163416.2:c.259G>A	p.Gly87Arg	p.G87R	ENST00000163416	NM_005113.3	87	Gga/Aga	0	not done		possiblydamaging	
GOLGA5		inserm.fr	GRCh37	14	93290982	93290982	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC884T									Valid												ENST00000163416.2:c.1712G>A	p.Arg571Lys	p.R571K	ENST00000163416	NM_005113.3	571	aGg/aAg	0	validated		possiblydamaging	
CHGA		inserm.fr	GRCh37	14	93396150	93396150	+	synonymous_variant	Silent	SNP	C	A	A			BCM375T																					ENST00000216492.5:c.345C>A	p.Ala115=	p.A115=	ENST00000216492	NM_001275.3	115	gcC/gcA	0	validated		synonymous	
KIAA1731		inserm.fr	GRCh37	11	93430386	93430386	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1732T																					ENST00000325212.6:c.2308T>A	p.Ser770Thr	p.S770T	ENST00000325212		770	Tca/Aca	0	not done		possiblydamaging	
KIAA1731		inserm.fr	GRCh37	11	93433262	93433262	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000325212.6:c.5184G>A	p.Gln1728=	p.Q1728=	ENST00000325212		1728	caG/caA	0	not done		synonymous	
PLCB4		inserm.fr	GRCh37	20	9352961	9352961	+	synonymous_variant	Silent	SNP	T	A	A			CHC2098T																					ENST00000378501.2:c.597T>A	p.Ile199=	p.I199=	ENST00000378501	NM_000933.3	199	atT/atA	0	not done		synonymous	
VSTM5		inserm.fr	GRCh37	11	93554325	93554325	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000409977.1:c.256C>T	p.Gln86Ter	p.Q86*	ENST00000409977	NM_001144871.1	86	Cag/Tag	0	not done		damaging	
RGMA		inserm.fr	GRCh37	15	93588863	93588863	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000557301.1:c.742C>T	p.Pro248Ser	p.P248S	ENST00000557301	NM_001166283.1	248	Ccg/Tcg	0	not done		probablydamaging	
SYK		inserm.fr	GRCh37	9	93606277	93606277	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000375746.1:c.97G>A	p.Gly33Ser	p.G33S	ENST00000375746	NM_001174167.1	33	Ggc/Agc	0	not done		probablydamaging	
SYK		inserm.fr	GRCh37	9	93636502	93636502	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000375746.1:c.932G>A	p.Gly311Glu	p.G311E	ENST00000375746	NM_001174167.1	311	gGg/gAg	0	not done		benign	
LYSET		inserm.fr	GRCh37	14	93652853	93652853	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC361TA																					ENST00000415050.2:c.347C>A	p.Pro116His	p.P116H	ENST00000415050	NM_001098621.1	116	cCt/cAt	0	validated		probablydamaging	
STX19		inserm.fr	GRCh37	3	93733817	93733817	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM375T									Valid												ENST00000315099.2:c.297A>T	p.Lys99Asn	p.K99N	ENST00000315099	NM_001001850.2	99	aaA/aaT	0	validated		probablydamaging	
STX19		inserm.fr	GRCh37	3	93734019	93734019	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2115T																					ENST00000315099.2:c.95G>T	p.Gly32Val	p.G32V	ENST00000315099	NM_001001850.2	32	gGg/gTg	0	not done		benign	
BTAF1		inserm.fr	GRCh37	10	93741961	93741961	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000265990.6:c.2027G>A	p.Arg676Gln	p.R676Q	ENST00000265990	NM_003972.2	676	cGg/cAg	0	not done		probablydamaging	
UBE2N		inserm.fr	GRCh37	12	93804509	93804509	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC155T									Valid												ENST00000318066.2:c.418+1G>T		p.X140_splice	ENST00000318066	NM_003348.3			0	validated		damaging	
HEPHL1		inserm.fr	GRCh37	11	93808402	93808402	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1148T																					ENST00000315765.9:c.1567C>A	p.Pro523Thr	p.P523T	ENST00000315765	NM_001098672.1	523	Cct/Act	0	not done		probablydamaging	
KIAA0825		inserm.fr	GRCh37	5	93809048	93809048	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000312498.7:c.1404G>T	p.Trp468Cys	p.W468C	ENST00000312498		468	tgG/tgT	0	not done		benign	
PANX1		inserm.fr	GRCh37	11	93862577	93862577	+	synonymous_variant	Silent	SNP	T	A	A			CHC1209T																					ENST00000227638.3:c.99T>A	p.Ala33=	p.A33=	ENST00000227638	NM_015368.3	33	gcT/gcA	0	not done		synonymous	
COL1A2		inserm.fr	GRCh37	7	94038664	94038664	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC614T																					ENST00000297268.6:c.823C>A	p.Pro275Thr	p.P275T	ENST00000297268	NM_000089.3	275	Cct/Act	0	validated		benign	
COL1A2		inserm.fr	GRCh37	7	94043206	94043206	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000297268.6:c.1612G>A	p.Gly538Ser	p.G538S	ENST00000297268	NM_000089.3	538	Ggt/Agt	0	not done		probablydamaging	
COL1A2		inserm.fr	GRCh37	7	94045738	94045738	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC155T																					ENST00000297268.6:c.1786G>A	p.Glu596Lys	p.E596K	ENST00000297268	NM_000089.3	596	Gag/Aag	0	validated		benign	
UNC79		inserm.fr	GRCh37	14	94048678	94048678	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1081T																					ENST00000256339.4:c.2260G>A	p.Val754Met	p.V754M	ENST00000256339	NM_020818.3	754	Gtg/Atg	0	validated		benign	
COL1A2		inserm.fr	GRCh37	7	94052354	94052354	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1775T																					ENST00000297268.6:c.2489G>A	p.Arg830Gln	p.R830Q	ENST00000297268	NM_000089.3	830	cGa/cAa	0	validated		possiblydamaging	
COL1A2		inserm.fr	GRCh37	7	94055135	94055135	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000297268.6:c.2909G>A	p.Gly970Asp	p.G970D	ENST00000297268	NM_000089.3	970	gGt/gAt	0	not done		probablydamaging	
UNC79		inserm.fr	GRCh37	14	94063795	94063795	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000256339.4:c.2750G>A	p.Cys917Tyr	p.C917Y	ENST00000256339	NM_020818.3	917	tGc/tAc	0	not done		possiblydamaging	
ZNF699		inserm.fr	GRCh37	19	9407078	9407078	+	synonymous_variant	Silent	SNP	T	A	A			CHC1629T																					ENST00000591998.1:c.1002A>T	p.Pro334=	p.P334=	ENST00000591998		334	ccA/ccT	0	not done		synonymous	
MARCH5		inserm.fr	GRCh37	10	94070948	94070948	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000358935.2:c.92G>A	p.Arg31Lys	p.R31K	ENST00000358935	NM_017824.4	31	aGa/aAa	0	not done		benign	
GPR83		inserm.fr	GRCh37	11	94113769	94113769	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1725T																					ENST00000243673.2:c.818G>T	p.Gly273Val	p.G273V	ENST00000243673	NM_016540.3	273	gGc/gTc	0	not done		probablydamaging	
EPHA7		inserm.fr	GRCh37	6	94120277	94120277	+	synonymous_variant	Silent	SNP	C	A	A			CHC2128T																					ENST00000369303.4:c.774G>T	p.Val258=	p.V258=	ENST00000369303	NM_004440.3	258	gtG/gtT	0	not done		synonymous	
GRID2		inserm.fr	GRCh37	4	94145824	94145824	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000282020.4:c.1023G>A	p.Lys341=	p.K341=	ENST00000282020	NM_001510.2	341	aaG/aaA	0	not done		synonymous	
CASD1		inserm.fr	GRCh37	7	94185006	94185006	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1715T																					ENST00000297273.4:c.2330G>A	p.Cys777Tyr	p.C777Y	ENST00000297273	NM_022900.4	777	tGt/tAt	0	not done		probablydamaging	
MRE11A		inserm.fr	GRCh37	11	94192574	94192574	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	A	A			CHC1201T																					ENST00000323929.3:c.1500G>T	p.Glu500Asp	p.E500D	ENST00000323929	NM_005591.3	500	gaG/gaT	0	validated		possiblydamaging	
SGCE		inserm.fr	GRCh37	7	94259109	94259109	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000445866.2:c.154C>T	p.Pro52Ser	p.P52S	ENST00000445866	NM_001099401.1	52	Cca/Tca	0	not done		probablydamaging	
MCTP1		inserm.fr	GRCh37	5	94288922	94288922	+	splice_donor_variant	Splice_Site	SNP	C	A	A			BCB167T																					ENST00000515393.1:c.981+1G>T		p.X327_splice	ENST00000515393	NM_024717.4			0	validated		damaging	
PEG10		inserm.fr	GRCh37	7	94293733	94293733	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1601T																					ENST00000482108.1:c.865C>A	p.Arg289Ser	p.R289S	ENST00000482108	NM_001172437.1	289	Cgc/Agc	0	not done		probablydamaging	
PIWIL4		inserm.fr	GRCh37	11	94301913	94301913	+	synonymous_variant	Silent	SNP	T	A	A			CHC197T																					ENST00000299001.6:c.105T>A	p.Leu35=	p.L35=	ENST00000299001	NM_152431.2	35	ctT/ctA	0	validated		synonymous	
PIWIL4		inserm.fr	GRCh37	11	94328475	94328475	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000299001.6:c.1151G>A	p.Gly384Glu	p.G384E	ENST00000299001	NM_152431.2	384	gGg/gAg	0	not done		probablydamaging	
FAM181A		inserm.fr	GRCh37	14	94394894	94394894	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000267594.5:c.449G>A	p.Ser150Asn	p.S150N	ENST00000267594	NM_138344.4	150	aGc/aAc	0	not done		benign	
PLCB4		inserm.fr	GRCh37	20	9440342	9440342	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000378501.2:c.3097G>A	p.Ala1033Thr	p.A1033T	ENST00000378501	NM_000933.3	1033	Gct/Act	0	not done		benign	
ASB2		inserm.fr	GRCh37	14	94420747	94420747	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000555019.1:c.394G>T	p.Ala132Ser	p.A132S	ENST00000555019	NM_001202429.1	132	Gca/Tca	0	not done		benign	
HHEX		inserm.fr	GRCh37	10	94452222	94452222	+	synonymous_variant	Silent	SNP	G	A	A			CHC1742T																					ENST00000282728.5:c.459G>A	p.Glu153=	p.E153=	ENST00000282728	NM_002729.4	153	gaG/gaA	0	not done		synonymous	
ADAP1		inserm.fr	GRCh37	7	944804	944804	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000265846.5:c.394C>T	p.Arg132Cys	p.R132C	ENST00000265846	NM_006869.2	132	Cgt/Tgt	0	not done		probablydamaging	
ROR2		inserm.fr	GRCh37	9	94486735	94486735	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2048T																					ENST00000375708.3:c.2041G>T	p.Val681Phe	p.V681F	ENST00000375708	NM_004560.3	681	Gtc/Ttc	0	not done		probablydamaging	
ROR2		inserm.fr	GRCh37	9	94487090	94487090	+	synonymous_variant	Silent	SNP	G	A	A			CHC891T																					ENST00000375708.3:c.1686C>T	p.His562=	p.H562=	ENST00000375708	NM_004560.3	562	caC/caT	0	not done		synonymous	
ROR2		inserm.fr	GRCh37	9	94488866	94488866	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000375708.3:c.1343C>T	p.Pro448Leu	p.P448L	ENST00000375708	NM_004560.3	448	cCc/cTc	0	not done		possiblydamaging	
ROR2		inserm.fr	GRCh37	9	94495435	94495435	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000375708.3:c.906C>T	p.Arg302=	p.R302=	ENST00000375708	NM_004560.3	302	cgC/cgT	0	not done		synonymous	
ROR2		inserm.fr	GRCh37	9	94495697	94495697	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1751T																					ENST00000375708.3:c.644C>T	p.Thr215Met	p.T215M	ENST00000375708	NM_004560.3	215	aCg/aTg	0	not done		probablydamaging	
AMOTL1		inserm.fr	GRCh37	11	94532737	94532737	+	synonymous_variant	Silent	SNP	G	A	A			CHC923T																					ENST00000433060.2:c.381G>A	p.Gly127=	p.G127=	ENST00000433060	NM_130847.2	127	ggG/ggA	0	not done		synonymous	
PPP1R9A		inserm.fr	GRCh37	7	94539541	94539541	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC2029T																					ENST00000433360.1:c.116C>A	p.Ser39Ter	p.S39*	ENST00000433360	NM_001166160.1	39	tCa/tAa	0	not done		damaging	
PPP1R9A		inserm.fr	GRCh37	7	94539572	94539572	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000433360.1:c.147G>A	p.Glu49=	p.E49=	ENST00000433360	NM_001166160.1	49	gaG/gaA	0	not done		synonymous	
PLXNC1		inserm.fr	GRCh37	12	94543094	94543094	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1714T																					ENST00000258526.4:c.347C>A	p.Ala116Glu	p.A116E	ENST00000258526	NM_005761.2	116	gCg/gAg	0	not done		benign	
DDX24		inserm.fr	GRCh37	14	94545938	94545938	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000330836.5:c.151G>T	p.Glu51Ter	p.E51*	ENST00000330836	NM_020414.3	51	Gag/Tag	0	not done		damaging	
MCTP1		inserm.fr	GRCh37	5	94619643	94619643	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000515393.1:c.637C>T	p.Pro213Ser	p.P213S	ENST00000515393	NM_024717.4	213	Ccg/Tcg	0	not done		benign	
PLXNC1		inserm.fr	GRCh37	12	94641817	94641817	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC437T																					ENST00000258526.4:c.2527G>A	p.Asp843Asn	p.D843N	ENST00000258526	NM_005761.2	843	Gac/Aac	0	not done		probablydamaging	
PLXNC1		inserm.fr	GRCh37	12	94697804	94697804	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1205T																					ENST00000258526.4:c.4579T>A	p.Tyr1527Asn	p.Y1527N	ENST00000258526	NM_005761.2	1527	Tac/Aac	0	not done		probablydamaging	
ROR2		inserm.fr	GRCh37	9	94712238	94712238	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1594T																					ENST00000375708.3:c.8G>T	p.Arg3Leu	p.R3L	ENST00000375708	NM_004560.3	3	cGg/cTg	0	not done		possiblydamaging	
FAM92A1		inserm.fr	GRCh37	8	94722034	94722034	+	synonymous_variant	Silent	SNP	T	A	A			CHC1044T																					ENST00000518322.1:c.474T>A	p.Ala158=	p.A158=	ENST00000518322	NM_145269.3	158	gcT/gcA	0	not done		synonymous	
KDM4D		inserm.fr	GRCh37	11	94731649	94731649	+	synonymous_variant	Silent	SNP	G	A	A			CHC1704T																					ENST00000335080.5:c.1113G>A	p.Ala371=	p.A371=	ENST00000335080	NM_018039.2	371	gcG/gcA	0	not done		synonymous	
SKIC3		inserm.fr	GRCh37	5	94803607	94803607	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2034T																					ENST00000358746.2:c.4583G>T	p.Arg1528Ile	p.R1528I	ENST00000358746	NM_014639.3	1528	aGa/aTa	0	not done		probablydamaging	
MCTP2		inserm.fr	GRCh37	15	94841689	94841689	+	synonymous_variant	Silent	SNP	C	A	A			CHC891T																					ENST00000357742.4:c.195C>A	p.Gly65=	p.G65=	ENST00000357742	NM_018349.3	65	ggC/ggA	0	not done		synonymous	
MCTP2		inserm.fr	GRCh37	15	94857531	94857531	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC896T																					ENST00000357742.4:c.486C>A	p.Asp162Glu	p.D162E	ENST00000357742	NM_018349.3	162	gaC/gaA	0	validated		possiblydamaging	
ENDOD1		inserm.fr	GRCh37	11	94861583	94861583	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000278505.4:c.343G>A	p.Ala115Thr	p.A115T	ENST00000278505	NM_015036.2	115	Gca/Aca	0	not done		possiblydamaging	
SETD5		inserm.fr	GRCh37	3	9486896	9486896	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC794T									Valid												ENST00000402198.1:c.1352T>A	p.Met451Lys	p.M451K	ENST00000402198	NM_001080517.1	451	aTg/aAg	0	validated		possiblydamaging	
MCTP2		inserm.fr	GRCh37	15	94882632	94882632	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC798T																					ENST00000357742.4:c.751C>A	p.Gln251Lys	p.Q251K	ENST00000357742	NM_018349.3	251	Caa/Aaa	0	validated		benign	
SESN3		inserm.fr	GRCh37	11	94910885	94910885	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	A	A			CHC1209T																					ENST00000536441.1:c.1245C>T	p.Ile415=	p.I415=	ENST00000536441	NM_144665.3	415	atC/atT	0	not done		synonymous	
MCTP2		inserm.fr	GRCh37	15	94910924	94910924	+	synonymous_variant	Silent	SNP	G	A	A			CHC1611T																					ENST00000357742.4:c.1392G>A	p.Leu464=	p.L464=	ENST00000357742	NM_018349.3	464	ttG/ttA	0	not done		synonymous	
PDP1		inserm.fr	GRCh37	8	94935619	94935619	+	synonymous_variant	Silent	SNP	G	A	A			CHC1602T																					ENST00000396200.3:c.1407G>A	p.Gln469=	p.Q469=	ENST00000396200	NM_001161779.1	469	caG/caA	0	not done		synonymous	
SERPINA9		inserm.fr	GRCh37	14	94935676	94935676	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC891T																					ENST00000337425.5:c.556C>T	p.Pro186Ser	p.P186S	ENST00000337425	NM_175739.3	186	Ccc/Tcc	0	not done		benign	
PON3		inserm.fr	GRCh37	7	94991696	94991696	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1741T																					ENST00000265627.5:c.884C>T	p.Pro295Leu	p.P295L	ENST00000265627	NM_000940.2	295	cCt/cTt	0	not done		probablydamaging	
IARS		inserm.fr	GRCh37	9	95015655	95015655	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			BCM399T									Valid												ENST00000375643.3:c.2218A>T	p.Arg740Ter	p.R740*	ENST00000375643	NM_013417.3	740	Aga/Tga	0	validated		damaging	
IARS		inserm.fr	GRCh37	9	95048842	95048842	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1626T																					ENST00000375643.3:c.455A>T	p.Tyr152Phe	p.Y152F	ENST00000375643	NM_013417.3	152	tAt/tTt	0	not done		benign	
SETD5		inserm.fr	GRCh37	3	9506185	9506185	+	synonymous_variant	Silent	SNP	G	A	A			BCB307T																					ENST00000402198.1:c.2553G>A	p.Leu851=	p.L851=	ENST00000402198	NM_001080517.1	851	ctG/ctA	0	validated		synonymous	
DCT		inserm.fr	GRCh37	13	95092332	95092332	+	splice_acceptor_variant	Splice_Site	SNP	T	A	A			BCM375T									Valid												ENST00000446125.1:c.1481-2A>T		p.X494_splice	ENST00000446125	NM_001129889.1			0	validated		damaging	
MYOF		inserm.fr	GRCh37	10	95093604	95093604	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC434T																					ENST00000359263.4:c.4630G>T	p.Glu1544Ter	p.E1544*	ENST00000359263	NM_013451.3	1544	Gaa/Taa	0	validated		damaging	
LAMP5		inserm.fr	GRCh37	20	9510362	9510362	+	synonymous_variant	Silent	SNP	C	A	A			CHC465T																					ENST00000246070.2:c.738C>A	p.Gly246=	p.G246=	ENST00000246070	NM_012261.3	246	ggC/ggA	0	validated		synonymous	
MYOF		inserm.fr	GRCh37	10	95119596	95119596	+	synonymous_variant	Silent	SNP	G	A	A			CHC1041T																					ENST00000359263.4:c.3114C>T	p.Thr1038=	p.T1038=	ENST00000359263	NM_013451.3	1038	acC/acT	0	validated		synonymous	
DCT		inserm.fr	GRCh37	13	95131435	95131435	+	synonymous_variant	Silent	SNP	G	A	A			CHC2099T																					ENST00000446125.1:c.75C>T	p.Phe25=	p.F25=	ENST00000446125	NM_001129889.1	25	ttC/ttT	0	not done		synonymous	
ZNF143		inserm.fr	GRCh37	11	9516253	9516253	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000396602.2:c.706G>A	p.Ala236Thr	p.A236T	ENST00000396602	NM_003442.5	236	Gca/Aca	0	not done		benign	
SETD5		inserm.fr	GRCh37	3	9517351	9517351	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1556T																					ENST00000402198.1:c.3905C>A	p.Pro1302His	p.P1302H	ENST00000402198	NM_001080517.1	1302	cCc/cAc	0	not done		probablydamaging	
GSC		inserm.fr	GRCh37	14	95235329	95235329	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000238558.3:c.581C>T	p.Ala194Val	p.A194V	ENST00000238558	NM_173849.2	194	gCc/gTc	0	not done		probablydamaging	
ZNF266		inserm.fr	GRCh37	19	9526345	9526345	+	synonymous_variant	Silent	SNP	G	A	A			BCM321T																					ENST00000592904.1:c.189C>T	p.Ser63=	p.S63=	ENST00000592904		63	tcC/tcT	0	validated		synonymous	
RBP4		inserm.fr	GRCh37	10	95360226	95360226	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000371467.1:c.279C>T	p.Gly93=	p.G93=	ENST00000371467		93	ggC/ggT	0	validated		synonymous	
ABR		inserm.fr	GRCh37	17	953829	953829	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB157T																					ENST00000302538.5:c.1607G>T	p.Ser536Ile	p.S536I	ENST00000302538	NM_021962.3	536	aGc/aTc	0	validated		benign	
PDE6C		inserm.fr	GRCh37	10	95422800	95422800	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1201T																					ENST00000371447.3:c.2383C>A	p.His795Asn	p.H795N	ENST00000371447	NM_006204.3	795	Cac/Aac	0	not done		probablydamaging	
LHFPL4		inserm.fr	GRCh37	3	9543926	9543926	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000287585.6:c.713C>T	p.Pro238Leu	p.P238L	ENST00000287585	NM_198560.2	238	cCc/cTc	0	not done		possiblydamaging	
PDLIM5		inserm.fr	GRCh37	4	95445015	95445015	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1725T																					ENST00000514743.1:c.237G>A	p.Met79Ile	p.M79I	ENST00000514743	NM_001256426.1	79	atG/atA	0	not done		probablydamaging	
FRA10AC1		inserm.fr	GRCh37	10	95452420	95452420	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000359204.4:c.363C>T	p.Asp121=	p.D121=	ENST00000359204	NM_145246.4	121	gaC/gaT	0	validated		synonymous	
BICD2		inserm.fr	GRCh37	9	95481191	95481191	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1629T																					ENST00000356884.6:c.1736G>T	p.Gly579Val	p.G579V	ENST00000356884	NM_001003800.1	579	gGc/gTc	0	not done		possiblydamaging	
DYNC1I1		inserm.fr	GRCh37	7	95499217	95499217	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1725T																					ENST00000324972.6:c.448G>A	p.Val150Met	p.V150M	ENST00000324972	NM_004411.4	150	Gtg/Atg	0	not done		benign	
DICER1		inserm.fr	GRCh37	14	95562368	95562368	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1745T																					ENST00000343455.3:c.4889G>T	p.Arg1630Leu	p.R1630L	ENST00000343455	NM_177438.2	1630	cGc/cTc	0	not done		benign	
DICER1		inserm.fr	GRCh37	14	95562451	95562451	+	synonymous_variant	Silent	SNP	G	A	A			BCM275T																					ENST00000343455.3:c.4806C>T	p.Ala1602=	p.A1602=	ENST00000343455	NM_177438.2	1602	gcC/gcT	0	validated		synonymous	
DICER1		inserm.fr	GRCh37	14	95562482	95562482	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1083T																					ENST00000343455.3:c.4775C>T	p.Pro1592Leu	p.P1592L	ENST00000343455	NM_177438.2	1592	cCg/cTg	0	validated		probablydamaging	
MTMR2		inserm.fr	GRCh37	11	95578201	95578201	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1746T																					ENST00000346299.5:c.1302G>T	p.Met434Ile	p.M434I	ENST00000346299	NM_016156.5	434	atG/atT	0	not done		probablydamaging	
PPP4R1		inserm.fr	GRCh37	18	9559432	9559432	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000400556.3:c.2013G>T	p.Leu671=	p.L671=	ENST00000400556	NM_001042388.2	671	ctG/ctT	0	not done		synonymous	
FGD6		inserm.fr	GRCh37	12	95602705	95602705	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000343958.4:c.2355C>T	p.Asp785=	p.D785=	ENST00000343958	NM_018351.3	785	gaC/gaT	0	validated		synonymous	
FGD6		inserm.fr	GRCh37	12	95603966	95603966	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1629T																					ENST00000343958.4:c.1094A>T	p.His365Leu	p.H365L	ENST00000343958	NM_018351.3	365	cAt/cTt	0	not done		probablydamaging	
FGD6		inserm.fr	GRCh37	12	95604098	95604098	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000343958.4:c.962G>T	p.Arg321Leu	p.R321L	ENST00000343958	NM_018351.3	321	cGa/cTa	0	not done		possiblydamaging	
PAK7		inserm.fr	GRCh37	20	9561554	9561554	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000353224.5:c.228C>T	p.Pro76=	p.P76=	ENST00000353224	NM_177990.2	76	ccC/ccT	0	not done		synonymous	
ESRP1		inserm.fr	GRCh37	8	95655578	95655578	+	synonymous_variant	Silent	SNP	C	A	A			CHC2206T																					ENST00000433389.2:c.309C>A	p.Ser103=	p.S103=	ENST00000433389	NM_001034915.2	103	tcC/tcA	0	not done		synonymous	
DYNC1I1		inserm.fr	GRCh37	7	95668628	95668628	+	synonymous_variant	Silent	SNP	G	A	A			CHC1704T																					ENST00000324972.6:c.1455G>A	p.Gly485=	p.G485=	ENST00000324972	NM_004411.4	485	ggG/ggA	0	not done		synonymous	
RWDD3		inserm.fr	GRCh37	1	95699825	95699825	+	synonymous_variant	Silent	SNP	C	A	A			CHC1035T																					ENST00000370202.4:c.39C>A	p.Ala13=	p.A13=	ENST00000370202	NM_015485.4	13	gcC/gcA	0	validated		synonymous	
CPSF3		inserm.fr	GRCh37	2	9570061	9570061	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000238112.3:c.124G>A	p.Gly42Arg	p.G42R	ENST00000238112	NM_016207.3	42	Ggg/Agg	0	not done		probablydamaging	
MAML2		inserm.fr	GRCh37	11	95712644	95712644	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1595T																					ENST00000524717.1:c.2939C>T	p.Thr980Met	p.T980M	ENST00000524717	NM_032427.1	980	aCg/aTg	0	validated		possiblydamaging	
PCSK1		inserm.fr	GRCh37	5	95746487	95746487	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000311106.3:c.1086C>T	p.Asp362=	p.D362=	ENST00000311106	NM_000439.4	362	gaC/gaT	0	not done		synonymous	
ZNF560		inserm.fr	GRCh37	19	9578093	9578093	+	synonymous_variant	Silent	SNP	G	A	A			CHC1591T																					ENST00000301480.4:c.1530C>T	p.His510=	p.H510=	ENST00000301480	NM_152476.2	510	caC/caT	0	not done		synonymous	
PLCE1		inserm.fr	GRCh37	10	95790838	95790838	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM423T																					ENST00000371380.3:c.35T>A	p.Ile12Lys	p.I12K	ENST00000371380		12	aTa/aAa	0	validated		benign	
ZNF514		inserm.fr	GRCh37	2	95818476	95818476	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC469T									Valid												ENST00000295208.2:c.160G>T	p.Glu54Ter	p.E54*	ENST00000295208	NM_032788.1	54	Gag/Tag	0	validated		damaging	
SLC25A13		inserm.fr	GRCh37	7	95822413	95822413	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2128T																					ENST00000416240.2:c.551G>T	p.Arg184Leu	p.R184L	ENST00000416240	NM_014251.2	184	cGa/cTa	0	not done		benign	
INTS8		inserm.fr	GRCh37	8	95841228	95841228	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC902T																					ENST00000523731.1:c.544G>A	p.Glu182Lys	p.E182K	ENST00000523731	NM_017864.3	182	Gag/Aag	0	not done		probablydamaging	
SUSD3		inserm.fr	GRCh37	9	95841847	95841847	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM617T																					ENST00000375472.3:c.520G>A	p.Gly174Arg	p.G174R	ENST00000375472	NM_145006.2	174	Ggg/Agg	0	validated		benign	
METAP2		inserm.fr	GRCh37	12	95867980	95867980	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000323666.5:c.25G>A	p.Ala9Thr	p.A9T	ENST00000323666	NM_006838.3	9	Gcc/Acc	0	not done		benign	
PLCE1		inserm.fr	GRCh37	10	95891943	95891943	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM783T																					ENST00000371380.3:c.1219G>A	p.Val407Met	p.V407M	ENST00000371380		407	Gtg/Atg	0	validated		possiblydamaging	
SYNE3		inserm.fr	GRCh37	14	95921877	95921877	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1152T																					ENST00000334258.5:c.974G>T	p.Gly325Val	p.G325V	ENST00000334258	NM_152592.3	325	gGc/gTc	0	validated		benign	
USP44		inserm.fr	GRCh37	12	95926899	95926899	+	synonymous_variant	Silent	SNP	G	A	A			BCM735T																					ENST00000258499.3:c.1134C>T	p.Tyr378=	p.Y378=	ENST00000258499	NM_032147.3	378	taC/taT	0	validated		synonymous	
USP44		inserm.fr	GRCh37	12	95926911	95926911	+	synonymous_variant	Silent	SNP	T	A	A			CHC433T																					ENST00000258499.3:c.1122A>T	p.Pro374=	p.P374=	ENST00000258499	NM_032147.3	374	ccA/ccT	0	validated		synonymous	
SYNE3		inserm.fr	GRCh37	14	95932507	95932507	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1186T																					ENST00000334258.5:c.388C>T	p.Gln130Ter	p.Q130*	ENST00000334258	NM_152592.3	130	Cag/Tag	0	not done		damaging	
PROM2		inserm.fr	GRCh37	2	95944869	95944869	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000317620.9:c.1251G>A	p.Glu417=	p.E417=	ENST00000317620	NM_001165978.1	417	gaG/gaA	0	not done		synonymous	
PROM2		inserm.fr	GRCh37	2	95945667	95945667	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000317620.9:c.1349G>A	p.Gly450Asp	p.G450D	ENST00000317620	NM_001165978.1	450	gGc/gAc	0	not done		probablydamaging	
WNK2		inserm.fr	GRCh37	9	95947722	95947722	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000297954.4:c.511G>A	p.Asp171Asn	p.D171N	ENST00000297954	NM_001282394.1	171	Gac/Aac	0	not done		possiblydamaging	
WNK2		inserm.fr	GRCh37	9	96000551	96000551	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC197T									Valid												ENST00000297954.4:c.1270C>A	p.Pro424Thr	p.P424T	ENST00000297954	NM_001282394.1	424	Cct/Act	0	validated		probablydamaging	
GLRX5		inserm.fr	GRCh37	14	96001709	96001709	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000331334.4:c.283G>A	p.Glu95Lys	p.E95K	ENST00000331334	NM_016417.2	95	Gag/Aag	0	not done		possiblydamaging	
WNK2		inserm.fr	GRCh37	9	96009850	96009850	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2208T																					ENST00000297954.4:c.1568G>A	p.Ser523Asn	p.S523N	ENST00000297954	NM_001282394.1	523	aGt/aAt	0	not done		possiblydamaging	
PLCE1		inserm.fr	GRCh37	10	96018597	96018597	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM703T																					ENST00000371380.3:c.3595G>A	p.Gly1199Ser	p.G1199S	ENST00000371380		1199	Ggc/Agc	0	validated		probablydamaging	
PLCE1		inserm.fr	GRCh37	10	96018808	96018808	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371380.3:c.3715G>A	p.Val1239Ile	p.V1239I	ENST00000371380		1239	Gtc/Atc	0	not done		benign	
WNK2		inserm.fr	GRCh37	9	96021488	96021488	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000297954.4:c.2658G>A	p.Leu886=	p.L886=	ENST00000297954	NM_001282394.1	886	ctG/ctA	0	not done		synonymous	
WNK2		inserm.fr	GRCh37	9	96024152	96024152	+	synonymous_variant	Silent	SNP	C	A	A			CHC798T																					ENST00000297954.4:c.3123C>A	p.Thr1041=	p.T1041=	ENST00000297954	NM_001282394.1	1041	acC/acA	0	validated		synonymous	
WNK2		inserm.fr	GRCh37	9	96025986	96025986	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000297954.4:c.3549G>A	p.Arg1183=	p.R1183=	ENST00000297954	NM_001282394.1	1183	agG/agA	0	not done		synonymous	
PLCE1		inserm.fr	GRCh37	10	96033331	96033331	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2115T																					ENST00000371380.3:c.4519G>A	p.Glu1507Lys	p.E1507K	ENST00000371380		1507	Gaa/Aaa	0	not done		possiblydamaging	
BMPR1B		inserm.fr	GRCh37	4	96036836	96036836	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1626T																					ENST00000440890.2:c.337G>A	p.Asp113Asn	p.D113N	ENST00000440890		113	Gac/Aac	0	not done		possiblydamaging	
WNK2		inserm.fr	GRCh37	9	96051240	96051240	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000297954.4:c.4315G>A	p.Ala1439Thr	p.A1439T	ENST00000297954	NM_001282394.1	1439	Gcc/Acc	0	not done		probablydamaging	
WNK2		inserm.fr	GRCh37	9	96054859	96054859	+	synonymous_variant	Silent	SNP	G	A	A			CHC1717T																					ENST00000297954.4:c.5223G>A	p.Pro1741=	p.P1741=	ENST00000297954	NM_001282394.1	1741	ccG/ccA	0	not done		synonymous	
WNK2		inserm.fr	GRCh37	9	96054886	96054886	+	synonymous_variant	Silent	SNP	C	A	A			CHC884T																					ENST00000297954.4:c.5250C>A	p.Gly1750=	p.G1750=	ENST00000297954	NM_001282394.1	1750	ggC/ggA	0	validated		synonymous	
UNC5C		inserm.fr	GRCh37	4	96090531	96090531	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1053T																					ENST00000453304.1:c.2650A>T	p.Thr884Ser	p.T884S	ENST00000453304	NM_003728.3	884	Acc/Tcc	0	validated		possiblydamaging	
TNKS		inserm.fr	GRCh37	8	9609118	9609118	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000310430.6:c.2833-1G>A		p.X945_splice	ENST00000310430	NM_003747.2			0	not done		damaging	
NOC3L		inserm.fr	GRCh37	10	96097546	96097546	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC736T									Valid												ENST00000371361.3:c.2177A>T	p.Glu726Val	p.E726V	ENST00000371361	NM_022451.9	726	gAg/gTg	0	validated		probablydamaging	
CCDC82		inserm.fr	GRCh37	11	96098212	96098212	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000278520.5:c.1312C>T	p.His438Tyr	p.H438Y	ENST00000278520		438	Cat/Tat	0	not done		possiblydamaging	
WEE1		inserm.fr	GRCh37	11	9610024	9610024	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000450114.2:c.1816G>A	p.Ala606Thr	p.A606T	ENST00000450114	NM_003390.3	606	Gct/Act	0	not done		benign	
NTN4		inserm.fr	GRCh37	12	96104400	96104400	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC469T																					ENST00000343702.4:c.999G>T	p.Lys333Asn	p.K333N	ENST00000343702	NM_021229.3	333	aaG/aaT	0	validated		possiblydamaging	
CCDC82		inserm.fr	GRCh37	11	96117845	96117845	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1556T																					ENST00000278520.5:c.67C>T	p.Arg23Ter	p.R23*	ENST00000278520		23	Cga/Tga	0	not done		damaging	
RPA4		inserm.fr	GRCh37	X	96139429	96139429	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000373040.3:c.120G>A	p.Lys40=	p.K40=	ENST00000373040	NM_013347.4	40	aaG/aaA	0	not done		synonymous	
UNC5C		inserm.fr	GRCh37	4	96163727	96163727	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000453304.1:c.961C>T	p.Pro321Ser	p.P321S	ENST00000453304	NM_003728.3	321	Cca/Tca	0	not done		benign	
DGKQ		inserm.fr	GRCh37	4	961756	961756	+	synonymous_variant	Silent	SNP	G	A	A			CHC432T																					ENST00000273814.3:c.723C>T	p.Ser241=	p.S241=	ENST00000273814	NM_001347.3	241	tcC/tcT	0	not done		synonymous	
FAM120AOS		inserm.fr	GRCh37	9	96209915	96209915	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM783T																					ENST00000375412.5:c.749G>T	p.Arg250Ile	p.R250I	ENST00000375412	NM_198841.2	250	aGa/aTa	0	validated		possiblydamaging	
TNKS		inserm.fr	GRCh37	8	9623234	9623234	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000310430.6:c.3480G>A	p.Glu1160=	p.E1160=	ENST00000310430	NM_003747.2	1160	gaG/gaA	0	not done		synonymous	
ERAP2		inserm.fr	GRCh37	5	96232568	96232568	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC799T																					ENST00000437043.3:c.1503+1G>A		p.X501_splice	ENST00000437043	NM_001130140.1			0	not done		possiblydamaging	
ERAP2		inserm.fr	GRCh37	5	96232568	96232568	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC902T																					ENST00000437043.3:c.1503+1G>A		p.X501_splice	ENST00000437043	NM_001130140.1			0	not done		damaging	
ERAP2		inserm.fr	GRCh37	5	96232568	96232568	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC1754T																					ENST00000437043.3:c.1503+1G>A		p.X501_splice	ENST00000437043	NM_001130140.1			0	not done		damaging	
DZIP1		inserm.fr	GRCh37	13	96239802	96239802	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC2034T																					ENST00000347108.3:c.2209A>T	p.Lys737Ter	p.K737*	ENST00000347108		737	Aag/Tag	0	not done		damaging	
UNC5C		inserm.fr	GRCh37	4	96256650	96256650	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1704T																					ENST00000453304.1:c.257G>T	p.Ser86Ile	p.S86I	ENST00000453304	NM_003728.3	86	aGc/aTc	0	not done		benign	
TRIM43		inserm.fr	GRCh37	2	96259805	96259805	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2029T																					ENST00000272395.2:c.34G>A	p.Glu12Lys	p.E12K	ENST00000272395	NM_138800.1	12	Gaa/Aaa	0	validated		probablydamaging	
DZIP1		inserm.fr	GRCh37	13	96282310	96282310	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1744T																					ENST00000347108.3:c.743A>T	p.Glu248Val	p.E248V	ENST00000347108		248	gAa/gTa	0	not done		probablydamaging	
DZIP1		inserm.fr	GRCh37	13	96293607	96293607	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB151T																					ENST00000347108.3:c.539G>T	p.Arg180Leu	p.R180L	ENST00000347108		180	cGg/cTg	0	validated		probablydamaging	
ADAM17		inserm.fr	GRCh37	2	9631279	9631279	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	A	A			CHC2216T																					ENST00000310823.3:c.2084A>T	p.Asp695Val	p.D695V	ENST00000310823	NM_003183.4	695	gAt/gTt	0	not done		probablydamaging	
HAL		inserm.fr	GRCh37	12	96370244	96370244	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1704T																					ENST00000261208.3:c.1796A>T	p.Asp599Val	p.D599V	ENST00000261208	NM_002108.3	599	gAc/gTc	0	not done		probablydamaging	
UGGT2		inserm.fr	GRCh37	13	96530058	96530058	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1209T																					ENST00000376747.3:c.3281G>T	p.Gly1094Val	p.G1094V	ENST00000376747	NM_020121.3	1094	gGa/gTa	0	not done		probablydamaging	
CYP2C19		inserm.fr	GRCh37	10	96580305	96580305	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1186T																					ENST00000371321.3:c.872C>A	p.Ala291Glu	p.A291E	ENST00000371321	NM_000769.1	291	gCa/gAa	0	not done		possiblydamaging	
WNK1		inserm.fr	GRCh37	12	966415	966415	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC1708T																					ENST00000315939.6:c.1400G>A	p.Arg467Lys	p.R467K	ENST00000315939	NM_018979.3	467	aGa/aAa	0	not done		probablydamaging	
CDK17		inserm.fr	GRCh37	12	96704852	96704852	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000261211.3:c.521G>T	p.Arg174Leu	p.R174L	ENST00000261211	NM_002595.4	174	cGa/cTa	0	not done		probablydamaging	
BDKRB1		inserm.fr	GRCh37	14	96730670	96730670	+	synonymous_variant	Silent	SNP	G	A	A			CHC1757T																					ENST00000216629.6:c.651G>A	p.Ala217=	p.A217=	ENST00000216629	NM_000710.3	217	gcG/gcA	0	not done		synonymous	
PDHA2		inserm.fr	GRCh37	4	96761899	96761899	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000295266.4:c.598G>A	p.Gly200Arg	p.G200R	ENST00000295266	NM_005390.4	200	Ggg/Agg	0	not done		probablydamaging	
TBL1X		inserm.fr	GRCh37	X	9677696	9677696	+	synonymous_variant	Silent	SNP	G	A	A			CHC796T																					ENST00000217964.7:c.1335G>A	p.Val445=	p.V445=	ENST00000217964	NM_005647.3	445	gtG/gtA	0	validated		synonymous	
ASTL		inserm.fr	GRCh37	2	96798378	96798378	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1148T																					ENST00000342380.2:c.538G>T	p.Val180Phe	p.V180F	ENST00000342380	NM_001002036.3	180	Gtc/Ttc	0	not done		probablydamaging	
ASTL		inserm.fr	GRCh37	2	96799738	96799738	+	synonymous_variant	Silent	SNP	G	A	A			BCM483T																					ENST00000342380.2:c.303C>T	p.Val101=	p.V101=	ENST00000342380	NM_001002036.3	101	gtC/gtT	0	validated		synonymous	
ASTL		inserm.fr	GRCh37	2	96803419	96803419	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000342380.2:c.76C>T	p.Leu26=	p.L26=	ENST00000342380	NM_001002036.3	26	Ctg/Ttg	0	not done		synonymous	
CYP2C8		inserm.fr	GRCh37	10	96829117	96829117	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC205T																					ENST00000371270.3:c.43C>T	p.Leu15Phe	p.L15F	ENST00000371270	NM_000770.3	15	Ctt/Ttt	0	validated		benign	
DHRS7C		inserm.fr	GRCh37	17	9683256	9683256	+	missense_variant	Missense_Mutation	SNP	T	A	A			BCM783T																					ENST00000330255.5:c.367A>T	p.Ile123Phe	p.I123F	ENST00000330255	NM_001105571.2	123	Atc/Ttc	0	validated		probablydamaging	
PTPDC1		inserm.fr	GRCh37	9	96846989	96846989	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000288976.3:c.177G>A	p.Val59=	p.V59=	ENST00000288976	NM_001253829.1	59	gtG/gtA	0	not done		synonymous	
NR2F2		inserm.fr	GRCh37	15	96875643	96875643	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1209T																					ENST00000394166.3:c.309C>A	p.Phe103Leu	p.F103L	ENST00000394166	NM_021005.3	103	ttC/ttA	0	not done		probablydamaging	
AK7		inserm.fr	GRCh37	14	96917894	96917894	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000267584.4:c.1085G>A	p.Ser362Asn	p.S362N	ENST00000267584	NM_152327.3	362	aGc/aAc	0	not done		possiblydamaging	
C12orf55		inserm.fr	GRCh37	12	96941716	96941716	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2098T																					ENST00000524981.4:c.2114G>A	p.Gly705Glu	p.G705E	ENST00000524981		705	gGa/gAa	0	not done			
AK7		inserm.fr	GRCh37	14	96949454	96949454	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000267584.4:c.1872G>A	p.Lys624=	p.K624=	ENST00000267584	NM_152327.3	624	aaG/aaA	0	not done		synonymous	
SNRNP200		inserm.fr	GRCh37	2	96949712	96949712	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM489T																					ENST00000323853.5:c.4423C>T	p.Arg1475Cys	p.R1475C	ENST00000323853	NM_014014.4	1475	Cgc/Tgc	0	validated		probablydamaging	
MTMR14		inserm.fr	GRCh37	3	9695382	9695382	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000296003.4:c.237G>A	p.Gly79=	p.G79=	ENST00000296003	NM_001077525.2	79	ggG/ggA	0	not done		synonymous	
SNRNP200		inserm.fr	GRCh37	2	96963168	96963168	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1154T																					ENST00000323853.5:c.1310G>T	p.Arg437Leu	p.R437L	ENST00000323853	NM_014014.4	437	cGc/cTc	0	not done		benign	
UFL1		inserm.fr	GRCh37	6	96985414	96985414	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369278.4:c.967G>A	p.Val323Ile	p.V323I	ENST00000369278	NM_015323.4	323	Gtt/Att	0	not done		benign	
ITPRIPL1		inserm.fr	GRCh37	2	96993989	96993989	+	synonymous_variant	Silent	SNP	G	A	A			BCM483T																					ENST00000361124.4:c.1644G>A	p.Leu548=	p.L548=	ENST00000361124	NM_178495.5	548	ctG/ctA	0	validated		synonymous	
UFL1		inserm.fr	GRCh37	6	96997313	96997313	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000369278.4:c.1546G>A	p.Val516Met	p.V516M	ENST00000369278	NM_015323.4	516	Gtg/Atg	0	not done		probablydamaging	
PAPOLA		inserm.fr	GRCh37	14	96998910	96998910	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000216277.8:c.760G>A	p.Ala254Thr	p.A254T	ENST00000216277	NM_032632.4	254	Gca/Aca	0	not done		probablydamaging	
NCAPH		inserm.fr	GRCh37	2	97034728	97034728	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000240423.4:c.2017G>A	p.Gly673Arg	p.G673R	ENST00000240423	NM_001281711.1	673	Gga/Aga	0	not done		possiblydamaging	
NCAPH		inserm.fr	GRCh37	2	97034737	97034737	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000240423.4:c.2026G>A	p.Ala676Thr	p.A676T	ENST00000240423	NM_001281711.1	676	Gcg/Acg	0	not done		benign	
ZNF169		inserm.fr	GRCh37	9	97062262	97062262	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000395395.2:c.422G>A	p.Gly141Glu	p.G141E	ENST00000395395	NM_194320.2	141	gGa/gAa	0	not done		benign	
C12orf63		inserm.fr	GRCh37	12	97078500	97078500	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2351T																					ENST00000524981.4:c.5791G>A	p.Ala1931Thr	p.A1931T	ENST00000524981		1931	Gca/Aca	0	not done		probablydamaging	
SORBS1		inserm.fr	GRCh37	10	97096785	97096785	+	synonymous_variant	Silent	SNP	G	A	A			BCB301T																					ENST00000371247.2:c.3132C>T	p.Pro1044=	p.P1044=	ENST00000371247		1044	ccC/ccT	0	validated		synonymous	
ARID3A		inserm.fr	GRCh37	19	971999	971999	+	synonymous_variant	Silent	SNP	C	A	A			CHC1545T																					ENST00000263620.3:c.1716C>A	p.Gly572=	p.G572=	ENST00000263620	NM_005224.2	572	ggC/ggA	0	validated		synonymous	
PTBP2		inserm.fr	GRCh37	1	97250746	97250746	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000426398.2:c.840G>A	p.Gly280=	p.G280=	ENST00000426398	NM_021190.2	280	ggG/ggA	0	not done		synonymous	
NEDD1		inserm.fr	GRCh37	12	97331095	97331095	+	synonymous_variant	Silent	SNP	G	A	A			BCM501T																					ENST00000557644.1:c.1062G>A	p.Thr354=	p.T354=	ENST00000557644	NM_001135175.1	354	acG/acA	0	validated		synonymous	
TAC1		inserm.fr	GRCh37	7	97363091	97363091	+	synonymous_variant	Silent	SNP	G	A	A			CHC1040T																					ENST00000319273.5:c.180G>A	p.Lys60=	p.K60=	ENST00000319273	NM_003182.2	60	aaG/aaA	0	not done		synonymous	
CNNM4		inserm.fr	GRCh37	2	97428081	97428081	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000377075.2:c.1345G>A	p.Val449Met	p.V449M	ENST00000377075	NM_020184.3	449	Gtg/Atg	0	not done		probablydamaging	
TCTN3		inserm.fr	GRCh37	10	97442407	97442407	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC1207T																					ENST00000371217.5:c.1452+1G>T		p.X484_splice	ENST00000371217				0	not done		damaging	
TCTN3		inserm.fr	GRCh37	10	97445360	97445360	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC898T																					ENST00000371217.5:c.922A>T	p.Asn308Tyr	p.N308Y	ENST00000371217		308	Aat/Tat	0	not done		possiblydamaging	
ASNS		inserm.fr	GRCh37	7	97482474	97482474	+	synonymous_variant	Silent	SNP	T	A	A			CHC2351T																					ENST00000175506.4:c.1374A>T	p.Ile458=	p.I458=	ENST00000175506	NM_183356.3	458	atA/atT	0	not done		synonymous	
HS6ST3		inserm.fr	GRCh37	13	97484825	97484825	+	synonymous_variant	Silent	SNP	T	A	A			CHC304T																					ENST00000376705.2:c.789T>A	p.Thr263=	p.T263=	ENST00000376705	NM_153456.3	263	acT/acA	0	validated		synonymous	
SDC2		inserm.fr	GRCh37	8	97506518	97506518	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1028T																					ENST00000302190.4:c.19C>A	p.Leu7Met	p.L7M	ENST00000302190	NM_002998.3	7	Ctg/Atg	0	not done		benign	
C9orf3		inserm.fr	GRCh37	9	97522396	97522396	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1751T																					ENST00000375315.2:c.331G>A	p.Asp111Asn	p.D111N	ENST00000375315	NM_001193329.1	111	Gat/Aat	0	not done		possiblydamaging	
SEMA4C		inserm.fr	GRCh37	2	97526517	97526517	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1566T																					ENST00000305476.5:c.2348A>T	p.Asn783Ile	p.N783I	ENST00000305476	NM_017789.4	783	aAc/aTc	0	not done		probablydamaging	
SEMA4C		inserm.fr	GRCh37	2	97530847	97530847	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM683T									Valid												ENST00000305476.5:c.640C>T	p.His214Tyr	p.H214Y	ENST00000305476	NM_017789.4	214	Cac/Tac	0	validated		probablydamaging	
CRYBG3		inserm.fr	GRCh37	3	97591626	97591626	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1182T																					ENST00000419587.2:c.1588G>A	p.Glu530Lys	p.E530K	ENST00000419587		530	Gaa/Aaa	0	not done			
ABR		inserm.fr	GRCh37	17	975932	975932	+	synonymous_variant	Silent	SNP	G	A	A			BCM439T																					ENST00000302538.5:c.816C>T	p.Arg272=	p.R272=	ENST00000302538	NM_021962.3	272	cgC/cgT	0	validated		synonymous	
CRYBG3		inserm.fr	GRCh37	3	97596136	97596136	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1708T																					ENST00000182096.4:c.254G>A	p.Ser85Asn	p.S85N	ENST00000182096	NM_153605.3	85	aGc/aAc	0	not done		benign	
FAM178B		inserm.fr	GRCh37	2	97633356	97633356	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCB151T																					ENST00000490605.2:c.635C>T	p.Ala212Val	p.A212V	ENST00000490605		212	gCc/gTc	0	validated		benign	
FAM178B		inserm.fr	GRCh37	2	97674878	97674878	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1183T																					ENST00000417561.3:c.128C>T	p.Ser43Leu	p.S43L	ENST00000417561		43	tCa/tTa	0	not done			
LMTK2		inserm.fr	GRCh37	7	97736516	97736516	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000297293.5:c.27G>A	p.Arg9=	p.R9=	ENST00000297293	NM_014916.3	9	cgG/cgA	0	not done		synonymous	
RAB31		inserm.fr	GRCh37	18	9775354	9775354	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000578921.1:c.119G>A	p.Gly40Glu	p.G40E	ENST00000578921	NM_006868.3	40	gGg/gAg	0	not done		probablydamaging	
CC2D2B		inserm.fr	GRCh37	10	97779049	97779049	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000410012.2:c.612G>A	p.Pro204=	p.P204=	ENST00000410012	NM_001159747.1	204	ccG/ccA	0	validated		synonymous	
PIK3CD		inserm.fr	GRCh37	1	9780714	9780714	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1747T																					ENST00000377346.4:c.1516G>A	p.Glu506Lys	p.E506K	ENST00000377346	NM_005026.3	506	Gag/Aag	0	validated		benign	
LMTK2		inserm.fr	GRCh37	7	97822730	97822730	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC917T																					ENST00000297293.5:c.2953G>A	p.Ala985Thr	p.A985T	ENST00000297293	NM_014916.3	985	Gca/Aca	0	validated		benign	
LMTK2		inserm.fr	GRCh37	7	97822742	97822742	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000297293.5:c.2965G>A	p.Ala989Thr	p.A989T	ENST00000297293	NM_014916.3	989	Gcc/Acc	0	not done		benign	
LMTK2		inserm.fr	GRCh37	7	97822956	97822956	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000297293.5:c.3179G>A	p.Gly1060Asp	p.G1060D	ENST00000297293	NM_014916.3	1060	gGc/gAc	0	not done		benign	
DRD5		inserm.fr	GRCh37	4	9783963	9783963	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC429T									Valid												ENST00000304374.2:c.310G>A	p.Ala104Thr	p.A104T	ENST00000304374	NM_000798.4	104	Gcc/Acc	0	not done		possiblydamaging	
DRD5		inserm.fr	GRCh37	4	9783986	9783986	+	synonymous_variant	Silent	SNP	G	A	A			CHC917T																					ENST00000304374.2:c.333G>A	p.Ala111=	p.A111=	ENST00000304374	NM_000798.4	111	gcG/gcA	0	validated		synonymous	
OR5H15		inserm.fr	GRCh37	3	97888301	97888301	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000356526.2:c.758G>A	p.Gly253Asp	p.G253D	ENST00000356526	NM_001005515.1	253	gGc/gAc	0	not done		probablydamaging	
ZNF518A		inserm.fr	GRCh37	10	97916278	97916278	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			CHC1534T																					ENST00000534948.1:n.1056G>A		*352*	ENST00000534948				0	validated		benign	
ZNF518A		inserm.fr	GRCh37	10	97918569	97918569	+	non_coding_transcript_exon_variant	RNA	SNP	G	A	A			BCM723T																					ENST00000534948.1:n.3347G>A		*1116*	ENST00000534948				0	validated		synonymous	
OGG1		inserm.fr	GRCh37	3	9791997	9791997	+	synonymous_variant	Silent	SNP	G	A	A			CHC1081T																					ENST00000302036.7:c.27G>A	p.Arg9=	p.R9=	ENST00000302036	NM_016821.2	9	agG/agA	0	validated		synonymous	
BRI3		inserm.fr	GRCh37	7	97920464	97920464	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC614T									Valid												ENST00000297290.3:c.287T>A	p.Phe96Tyr	p.F96Y	ENST00000297290	NM_015379.4	96	tTc/tAc	0	validated		probablydamaging	
BAIAP2L1		inserm.fr	GRCh37	7	97923402	97923402	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC793T									Valid												ENST00000005260.8:c.1444A>T	p.Lys482Ter	p.K482*	ENST00000005260	NM_018842.4	482	Aag/Tag	0	validated		damaging	
AGRN		inserm.fr	GRCh37	1	979357	979357	+	synonymous_variant	Silent	SNP	C	A	A			CHC1191T																					ENST00000379370.2:c.1953C>A	p.Leu651=	p.L651=	ENST00000379370	NM_198576.3	651	ctC/ctA	0	not done		synonymous	
OR5H2		inserm.fr	GRCh37	3	98002465	98002465	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1754T																					ENST00000355273.2:c.734C>A	p.Thr245Asn	p.T245N	ENST00000355273	NM_001005482.1	245	aCc/aAc	0	not done		probablydamaging	
SBF2		inserm.fr	GRCh37	11	9803100	9803100	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1545T																					ENST00000256190.8:c.5405C>T	p.Pro1802Leu	p.P1802L	ENST00000256190	NM_030962.3	1802	cCc/cTc	0	not done		probablydamaging	
DNTT		inserm.fr	GRCh37	10	98064284	98064284	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC892T																					ENST00000371174.2:c.30C>A	p.Ser10Arg	p.S10R	ENST00000371174		10	agC/agA	0	not done		benign	
TLL2		inserm.fr	GRCh37	10	98130024	98130024	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2099T																					ENST00000357947.3:c.2711C>T	p.Ser904Phe	p.S904F	ENST00000357947	NM_012465.3	904	tCc/tTc	0	not done		probablydamaging	
TLL2		inserm.fr	GRCh37	10	98130039	98130039	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC794T									Valid												ENST00000357947.3:c.2696C>T	p.Thr899Ile	p.T899I	ENST00000357947	NM_012465.3	899	aCc/aTc	0	validated		probablydamaging	
OR5K2		inserm.fr	GRCh37	3	98217071	98217071	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1211T																					ENST00000427338.1:c.547C>A	p.Pro183Thr	p.P183T	ENST00000427338	NM_001004737.1	183	Ccc/Acc	0	not done		probablydamaging	
NPTX2		inserm.fr	GRCh37	7	98257770	98257770	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000265634.3:c.1125G>A	p.Gln375=	p.Q375=	ENST00000265634	NM_002523.2	375	caG/caA	0	not done		synonymous	
COX5B		inserm.fr	GRCh37	2	98262622	98262622	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000258424.2:c.73G>A	p.Ala25Thr	p.A25T	ENST00000258424	NM_001862.2	25	Gcg/Acg	0	not done		benign	
AGRN		inserm.fr	GRCh37	1	982727	982727	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC805T																					ENST00000379370.2:c.3409G>A	p.Val1137Ile	p.V1137I	ENST00000379370	NM_198576.3	1137	Gtc/Atc	0	not done		possiblydamaging	
SLC2A9		inserm.fr	GRCh37	4	9828190	9828190	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000264784.3:c.1454C>T	p.Ala485Val	p.A485V	ENST00000264784	NM_020041.2	485	gCt/gTt	0	not done		benign	
ZAP70		inserm.fr	GRCh37	2	98349355	98349355	+	synonymous_variant	Silent	SNP	G	A	A			BCM321T																					ENST00000264972.5:c.573G>A	p.Pro191=	p.P191=	ENST00000264972	NM_001079.3	191	ccG/ccA	0	validated		synonymous	
ZAP70		inserm.fr	GRCh37	2	98354030	98354030	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC303T									Valid												ENST00000264972.5:c.1384C>A	p.Leu462Met	p.L462M	ENST00000264972	NM_001079.3	462	Ctg/Atg	0	validated		probablydamaging	
TMEM130		inserm.fr	GRCh37	7	98452918	98452918	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1704T																					ENST00000416379.2:c.748C>T	p.Pro250Ser	p.P250S	ENST00000416379		250	Ccc/Tcc	0	not done		possiblydamaging	
TRRAP		inserm.fr	GRCh37	7	98487957	98487957	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			BCM683T																					ENST00000359863.4:c.151-1G>A		p.X51_splice	ENST00000359863	NM_001244580.1			0	validated		damaging	
TRRAP		inserm.fr	GRCh37	7	98508850	98508850	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359863.4:c.1963G>A	p.Val655Ile	p.V655I	ENST00000359863	NM_001244580.1	655	Gtc/Atc	0	not done		benign	
TRRAP		inserm.fr	GRCh37	7	98509644	98509644	+	splice_acceptor_variant	Splice_Site	SNP	G	A	A			CHC892T																					ENST00000359863.4:c.2008-1G>A		p.X670_splice	ENST00000359863	NM_001244580.1			0	not done		damaging	
ARRDC4		inserm.fr	GRCh37	15	98512432	98512432	+	synonymous_variant	Silent	SNP	G	A	A			CHC1744T																					ENST00000268042.6:c.705G>A	p.Thr235=	p.T235=	ENST00000268042	NM_183376.2	235	acG/acA	0	not done		synonymous	
TRRAP		inserm.fr	GRCh37	7	98515127	98515127	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000359863.4:c.2447G>A	p.Arg816Gln	p.R816Q	ENST00000359863	NM_001244580.1	816	cGg/cAg	0	not done		probablydamaging	
SLC26A1		inserm.fr	GRCh37	4	985433	985433	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC796T																					ENST00000361661.2:c.59A>T	p.Gln20Leu	p.Q20L	ENST00000361661	NM_213613.3	20	cAg/cTg	0	validated		probablydamaging	
TRRAP		inserm.fr	GRCh37	7	98547126	98547126	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000359863.4:c.4854G>A	p.Gly1618=	p.G1618=	ENST00000359863	NM_001244580.1	1618	ggG/ggA	0	not done		synonymous	
TRRAP		inserm.fr	GRCh37	7	98608779	98608779	+	synonymous_variant	Silent	SNP	G	A	A			CHC1148T																					ENST00000359863.4:c.11001G>A	p.Thr3667=	p.T3667=	ENST00000359863	NM_001244580.1	3667	acG/acA	0	not done		synonymous	
MTDH		inserm.fr	GRCh37	8	98703354	98703354	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCB157T																					ENST00000336273.3:c.986C>A	p.Ala329Asp	p.A329D	ENST00000336273	NM_178812.3	329	gCt/gAt	0	validated		benign	
LCOR		inserm.fr	GRCh37	10	98715236	98715236	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000371097.4:c.859G>A	p.Ala287Thr	p.A287T	ENST00000371097		287	Gcg/Acg	0	not done		benign	
C10orf12		inserm.fr	GRCh37	10	98743264	98743264	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC2029T																					ENST00000286067.2:c.2117C>A	p.Ser706Ter	p.S706*	ENST00000286067	NM_015652.2	706	tCg/tAg	0	not done		damaging	
TMPO		inserm.fr	GRCh37	12	98941362	98941362	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000343315.5:c.971G>A	p.Arg324His	p.R324H	ENST00000343315		324	cGc/cAc	0	not done		probablydamaging	
ARPC1A		inserm.fr	GRCh37	7	98942059	98942059	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC320T									Valid												ENST00000262942.5:c.313T>A	p.Ser105Thr	p.S105T	ENST00000262942	NM_001190996.1	105	Tcc/Acc	0	validated		possiblydamaging	
ARPC1A		inserm.fr	GRCh37	7	98946583	98946583	+	splice_donor_variant	Splice_Site	SNP	G	A	A			CHC1629T																					ENST00000262942.5:c.500+1G>A		p.X167_splice	ENST00000262942	NM_001190996.1			0	not done		possiblydamaging	
HSD17B3		inserm.fr	GRCh37	9	99013755	99013755	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM723T																					ENST00000375263.3:c.398G>T	p.Gly133Val	p.G133V	ENST00000375263	NM_000197.1	133	gGa/gTa	0	validated		probablydamaging	
FARP1		inserm.fr	GRCh37	13	99061752	99061752	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000319562.6:c.1575G>A	p.Thr525=	p.T525=	ENST00000319562	NM_005766.2	525	acG/acA	0	not done		synonymous	
CD69		inserm.fr	GRCh37	12	9907718	9907718	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000228434.3:c.327C>T	p.Ala109=	p.A109=	ENST00000228434	NM_001781.2	109	gcC/gcT	0	not done		synonymous	
FRAT2		inserm.fr	GRCh37	10	99093660	99093660	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC793T																					ENST00000371019.2:c.670A>T	p.Ile224Phe	p.I224F	ENST00000371019	NM_012083.2	224	Att/Ttt	0	validated		benign	
APAF1		inserm.fr	GRCh37	12	99102441	99102441	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC121T																					ENST00000551964.1:c.2800G>A	p.Glu934Lys	p.E934K	ENST00000551964	NM_181861.1	934	Gaa/Aaa	0	validated		probablydamaging	
ZKSCAN5		inserm.fr	GRCh37	7	99110197	99110197	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000394170.2:c.536G>A	p.Arg179His	p.R179H	ENST00000394170	NM_014569.3	179	cGt/cAt	0	not done		benign	
WDR18		inserm.fr	GRCh37	19	991296	991296	+	synonymous_variant	Silent	SNP	C	A	A			CHC303T																					ENST00000251289.5:c.876C>A	p.Thr292=	p.T292=	ENST00000251289	NM_024100.3	292	acC/acA	0	validated		synonymous	
RRP12		inserm.fr	GRCh37	10	99132494	99132494	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	A	A			CHC1731T																					ENST00000370992.4:c.2248A>T	p.Arg750Ter	p.R750*	ENST00000370992	NM_015179.3	750	Aga/Tga	0	not done		possiblydamaging	
POP1		inserm.fr	GRCh37	8	99142339	99142339	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000401707.2:c.620G>A	p.Trp207Ter	p.W207*	ENST00000401707	NM_001145860.1	207	tGg/tAg	0	not done		damaging	
INPP4A		inserm.fr	GRCh37	2	99163076	99163076	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000074304.5:c.1082G>A	p.Gly361Glu	p.G361E	ENST00000074304	NM_001134224.1	361	gGg/gAg	0	not done		probablydamaging	
STK24		inserm.fr	GRCh37	13	99171499	99171499	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	A	A			BCB157T									Valid												ENST00000376547.3:c.307A>T	p.Lys103Ter	p.K103*	ENST00000376547	NM_003576.3	103	Aag/Tag	0	validated		damaging	
SNX7		inserm.fr	GRCh37	1	99203921	99203921	+	synonymous_variant	Silent	SNP	G	A	A			CHC794T																					ENST00000306121.3:c.1254G>A	p.Glu418=	p.E418=	ENST00000306121	NM_015976.4	418	gaG/gaA	0	validated		synonymous	
ZDHHC16		inserm.fr	GRCh37	10	99213323	99213323	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1717T																					ENST00000393760.1:c.593G>A	p.Arg198Gln	p.R198Q	ENST00000393760	NM_198046.1	198	cGg/cAg	0	not done		probablydamaging	
ANKS1B		inserm.fr	GRCh37	12	99225841	99225841	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000547776.2:c.2852C>T	p.Pro951Leu	p.P951L	ENST00000547776	NM_152788.4	951	cCc/cTc	0	not done		probablydamaging	
NIPAL2		inserm.fr	GRCh37	8	99264757	99264757	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1611T																					ENST00000341166.3:c.310A>T	p.Asn104Tyr	p.N104Y	ENST00000341166	NM_024759.1	104	Aac/Tac	0	not done		probablydamaging	
JAGN1		inserm.fr	GRCh37	3	9932419	9932419	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1714T																					ENST00000307768.4:c.13G>A	p.Ala5Thr	p.A5T	ENST00000307768	NM_032492.3	5	Gca/Aca	0	not done		benign	
JAGN1		inserm.fr	GRCh37	3	9932452	9932452	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC451T																					ENST00000307768.4:c.46G>A	p.Asp16Asn	p.D16N	ENST00000307768	NM_032492.3	16	Gac/Aac	0	validated		probablydamaging	
HOGA1		inserm.fr	GRCh37	10	99359553	99359553	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC121T																					ENST00000370646.4:c.585G>A	p.Met195Ile	p.M195I	ENST00000370646	NM_138413.3	195	atG/atA	0	validated		benign	
PI4K2A		inserm.fr	GRCh37	10	99400923	99400923	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1209T																					ENST00000370631.3:c.424G>A	p.Asp142Asn	p.D142N	ENST00000370631	NM_018425.2	142	Gac/Aac	0	not done		benign	
KIAA1211L		inserm.fr	GRCh37	2	99413824	99413824	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM337T																					ENST00000397899.2:c.2593G>T	p.Glu865Ter	p.E865*	ENST00000397899	NM_207362.2	865	Gag/Tag	0	validated		damaging	
CYP3A43		inserm.fr	GRCh37	7	99434123	99434123	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000222382.5:c.119G>A	p.Gly40Glu	p.G40E	ENST00000222382		40	gGg/gAg	0	not done		probablydamaging	
KIAA1211L		inserm.fr	GRCh37	2	99438676	99438676	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC609T																					ENST00000397899.2:c.2060G>T	p.Arg687Leu	p.R687L	ENST00000397899	NM_207362.2	687	cGg/cTg	0	validated		probablydamaging	
KIAA1211L		inserm.fr	GRCh37	2	99439083	99439083	+	synonymous_variant	Silent	SNP	G	A	A			BCM723T																					ENST00000397899.2:c.1653C>T	p.Gly551=	p.G551=	ENST00000397899	NM_207362.2	551	ggC/ggT	0	validated		synonymous	
KIAA1211L		inserm.fr	GRCh37	2	99439366	99439366	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1209T																					ENST00000397899.2:c.1370C>T	p.Ala457Val	p.A457V	ENST00000397899	NM_207362.2	457	gCg/gTg	0	not done		benign	
KIAA1211L		inserm.fr	GRCh37	2	99439844	99439844	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1598T																					ENST00000397899.2:c.892C>T	p.Pro298Ser	p.P298S	ENST00000397899	NM_207362.2	298	Ccc/Tcc	0	not done		probablydamaging	
KCNS2		inserm.fr	GRCh37	8	99440612	99440612	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC892T																					ENST00000287042.4:c.405G>A	p.Trp135Ter	p.W135*	ENST00000287042	NM_020697.2	135	tgG/tgA	0	not done		damaging	
KIAA1211L		inserm.fr	GRCh37	2	99448863	99448863	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM683T																					ENST00000397899.2:c.488G>T	p.Ser163Ile	p.S163I	ENST00000397899	NM_207362.2	163	aGc/aTc	0	validated		probablydamaging	
DOCK9		inserm.fr	GRCh37	13	99460038	99460038	+	synonymous_variant	Silent	SNP	T	A	A			CHC2048T																					ENST00000376460.1:c.5433A>T	p.Gly1811=	p.G1811=	ENST00000376460	NM_015296.2	1811	ggA/ggT	0	not done			
ABR		inserm.fr	GRCh37	17	994981	994981	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1746T																					ENST00000302538.5:c.455A>T	p.Glu152Val	p.E152V	ENST00000302538	NM_021962.3	152	gAg/gTg	0	not done		possiblydamaging	
IGF1R		inserm.fr	GRCh37	15	99500381	99500381	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1744T																					ENST00000268035.6:c.3814C>A	p.Pro1272Thr	p.P1272T	ENST00000268035	NM_000875.3	1272	Cct/Act	0	not done		benign	
TRIM4		inserm.fr	GRCh37	7	99506231	99506231	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1739T																					ENST00000355947.2:c.772C>T	p.Gln258Ter	p.Q258*	ENST00000355947	NM_033017.3	258	Cag/Tag	0	not done		damaging	
COL8A1		inserm.fr	GRCh37	3	99513173	99513173	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM325T									Valid												ENST00000261037.3:c.428C>A	p.Pro143His	p.P143H	ENST00000261037	NM_001850.4	143	cCt/cAt	0	validated		probablydamaging	
COL8A1		inserm.fr	GRCh37	3	99514371	99514371	+	synonymous_variant	Silent	SNP	C	A	A			CHC1754T																					ENST00000261037.3:c.1626C>A	p.Gly542=	p.G542=	ENST00000261037	NM_001850.4	542	ggC/ggA	0	not done		synonymous	
IDUA		inserm.fr	GRCh37	4	995272	995272	+	synonymous_variant	Silent	SNP	G	A	A			CHC1566T																					ENST00000247933.4:c.510G>A	p.Ala170=	p.A170=	ENST00000247933	NM_000203.3	170	gcG/gcA	0	not done		synonymous	
IDUA		inserm.fr	GRCh37	4	995612	995612	+	synonymous_variant	Silent	SNP	C	A	A			CHC433T																					ENST00000247933.4:c.735C>A	p.Thr245=	p.T245=	ENST00000247933	NM_000203.3	245	acC/acA	0	validated		synonymous	
IDUA		inserm.fr	GRCh37	4	995665	995665	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC961T																					ENST00000247933.4:c.788G>A	p.Arg263Lys	p.R263K	ENST00000247933	NM_000203.3	263	aGg/aAg	0	validated		benign	
DOCK9		inserm.fr	GRCh37	13	99573332	99573332	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC432T																					ENST00000376460.1:c.593G>T	p.Arg198Ile	p.R198I	ENST00000376460	NM_015296.2	198	aGa/aTa	0	not done		probablydamaging	
PIN1		inserm.fr	GRCh37	19	9959814	9959814	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM711T																					ENST00000247970.4:c.431G>A	p.Gly144Glu	p.G144E	ENST00000247970	NM_006221.3	144	gGg/gAg	0	validated		probablydamaging	
ZKSCAN1		inserm.fr	GRCh37	7	99621825	99621825	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1600T																					ENST00000324306.6:c.475C>A	p.Pro159Thr	p.P159T	ENST00000324306	NM_003439.1	159	Cct/Act	0	not done		probablydamaging	
ANKS1B		inserm.fr	GRCh37	12	99640610	99640610	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000547776.2:c.1789C>T	p.Pro597Ser	p.P597S	ENST00000547776	NM_152788.4	597	Cca/Tca	0	not done		benign	
TSGA10		inserm.fr	GRCh37	2	99651740	99651740	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			BCM375T									Valid												ENST00000393483.3:c.1567G>T	p.Glu523Ter	p.E523*	ENST00000393483	NM_025244.2	523	Gaa/Taa	0	validated		damaging	
PCDH19		inserm.fr	GRCh37	X	99661917	99661917	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000373034.4:c.1679C>T	p.Thr560Ile	p.T560I	ENST00000373034	NM_001184880.1	560	aCc/aTc	0	not done		benign	
PCDH19		inserm.fr	GRCh37	X	99662659	99662659	+	stop_gained	Nonsense_Mutation	SNP	C	A	A			CHC1035T									Valid												ENST00000373034.4:c.937G>T	p.Glu313Ter	p.E313*	ENST00000373034	NM_001184880.1	313	Gaa/Taa	0	validated		damaging	
CRTAC1		inserm.fr	GRCh37	10	99667795	99667795	+	synonymous_variant	Silent	SNP	G	A	A			CHC892T																					ENST00000370597.3:c.825C>T	p.Thr275=	p.T275=	ENST00000370597	NM_018058.6	275	acC/acT	0	not done		synonymous	
SYNM		inserm.fr	GRCh37	15	99672976	99672976	+	missense_variant	Missense_Mutation	SNP	G	A	A			BCM723T																					ENST00000336292.6:c.4408G>A	p.Ala1470Thr	p.A1470T	ENST00000336292	NM_145728.2	1470	Gcg/Acg	0	validated		synonymous	
MCM7		inserm.fr	GRCh37	7	99693659	99693659	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC218T																					ENST00000303887.5:c.1333G>T	p.Asp445Tyr	p.D445Y	ENST00000303887	NM_001278595.1	445	Gat/Tat	0	validated		probablydamaging	
MCM7		inserm.fr	GRCh37	7	99694964	99694964	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM339T																					ENST00000303887.5:c.1161G>T	p.Lys387Asn	p.K387N	ENST00000303887	NM_001278595.1	387	aaG/aaT	0	validated		probablydamaging	
FAM22G		inserm.fr	GRCh37	9	99701235	99701235	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC051T																					ENST00000372322.3:c.2030C>A	p.Pro677His	p.P677H	ENST00000372322	NM_001170741.1	677	cCt/cAt	0	validated			
TSGA10		inserm.fr	GRCh37	2	99722145	99722145	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC2211T																					ENST00000393483.3:c.226A>T	p.Thr76Ser	p.T76S	ENST00000393483	NM_025244.2	76	Acc/Tcc	0	not done		benign	
MBLAC1		inserm.fr	GRCh37	7	99725189	99725189	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2113T																					ENST00000398075.2:c.171C>A	p.Ser57Arg	p.S57R	ENST00000398075	NM_203397.1	57	agC/agA	0	validated		probablydamaging	
IL17RC		inserm.fr	GRCh37	3	9974688	9974688	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC2103T																					ENST00000295981.3:c.1787G>A	p.Gly596Asp	p.G596D	ENST00000295981	NM_153461.3	596	gGt/gAt	0	not done		possiblydamaging	
LPPR4		inserm.fr	GRCh37	1	99753629	99753629	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC1205T																					ENST00000370185.3:c.331C>A	p.Pro111Thr	p.P111T	ENST00000370185	NM_014839.4	111	Ccg/Acg	0	not done		probablydamaging	
LPPR4		inserm.fr	GRCh37	1	99772033	99772033	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000370185.3:c.1759G>A	p.Gly587Ser	p.G587S	ENST00000370185	NM_014839.4	587	Ggt/Agt	0	not done		probablydamaging	
GPC2		inserm.fr	GRCh37	7	99774739	99774739	+	synonymous_variant	Silent	SNP	G	A	A			CHC798T																					ENST00000292377.2:c.84C>T	p.Val28=	p.V28=	ENST00000292377	NM_152742.1	28	gtC/gtT	0	validated		synonymous	
FAXC		inserm.fr	GRCh37	6	99797068	99797068	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC1209T																					ENST00000389677.5:c.181C>T	p.Pro61Ser	p.P61S	ENST00000389677	NM_032511.2	61	Ccc/Tcc	0	not done		benign	
STAG3		inserm.fr	GRCh37	7	99797249	99797249	+	synonymous_variant	Silent	SNP	C	A	A			CHC1704T																					ENST00000426455.1:c.1659C>A	p.Gly553=	p.G553=	ENST00000426455	NM_001282716.1	553	ggC/ggA	0	not done		synonymous	
CRELD1		inserm.fr	GRCh37	3	9979746	9979746	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1749T																					ENST00000326434.5:c.416T>A	p.Leu139Gln	p.L139Q	ENST00000326434	NM_001031717.3	139	cTg/cAg	0	not done		possiblydamaging	
STAG3		inserm.fr	GRCh37	7	99798154	99798154	+	missense_variant	Missense_Mutation	SNP	C	A	A			BCM545T																					ENST00000426455.1:c.1849C>A	p.Arg617Ser	p.R617S	ENST00000426455	NM_001282716.1	617	Cgc/Agc	0	validated		probablydamaging	
MRPL30		inserm.fr	GRCh37	2	99802674	99802674	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000338148.3:c.8G>A	p.Gly3Glu	p.G3E	ENST00000338148	NM_145212.3	3	gGg/gAg	0	not done		probablydamaging	
MRPL30		inserm.fr	GRCh37	2	99811279	99811279	+	synonymous_variant	Silent	SNP	G	A	A			BCM397T																					ENST00000338148.3:c.198G>A	p.Leu66=	p.L66=	ENST00000338148	NM_145212.3	66	ctG/ctA	0	validated		synonymous	
COQ3		inserm.fr	GRCh37	6	99817484	99817484	+	stop_gained	Nonsense_Mutation	SNP	T	A	A			CHC1531T																					ENST00000254759.3:c.1102A>T	p.Lys368Ter	p.K368*	ENST00000254759	NM_017421.3	368	Aag/Tag	0	not done		damaging	
TNMD		inserm.fr	GRCh37	X	99840052	99840052	+	missense_variant	Missense_Mutation	SNP	C	A	A			CHC2052T																					ENST00000373031.4:c.37C>A	p.His13Asn	p.H13N	ENST00000373031	NM_022144.2	13	Cac/Aac	0	not done		possiblydamaging	
PNISR		inserm.fr	GRCh37	6	99851704	99851704	+	splice_donor_variant	Splice_Site	SNP	C	A	A			CHC1154T																					ENST00000369239.5:c.1156+1G>T		p.X386_splice	ENST00000369239	NM_032870.2			0	not done		possiblydamaging	
SETD3		inserm.fr	GRCh37	14	99924852	99924852	+	stop_gained	Nonsense_Mutation	SNP	G	A	A			CHC1763T																					ENST00000331768.5:c.439C>T	p.Arg147Ter	p.R147*	ENST00000331768	NM_032233.2	147	Cga/Tga	0	not done		damaging	
CNTN5		inserm.fr	GRCh37	11	99932013	99932013	+	synonymous_variant	Silent	SNP	T	A	A			CHC2200T																					ENST00000524871.1:c.1050T>A	p.Ser350=	p.S350=	ENST00000524871	NM_014361.3	350	tcT/tcA	0	not done		synonymous	
SYTL4		inserm.fr	GRCh37	X	99942112	99942112	+	missense_variant	Missense_Mutation	SNP	T	A	A			CHC1207T																					ENST00000455616.1:c.1136A>T	p.Glu379Val	p.E379V	ENST00000455616		379	gAg/gTg	0	not done		probablydamaging	
PILRB		inserm.fr	GRCh37	7	99956481	99956481	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC892T																					ENST00000610247.1:c.233G>A	p.Gly78Glu	p.G78E	ENST00000610247		78	gGg/gAg	0	not done		probablydamaging	
SLC2A9		inserm.fr	GRCh37	4	9998495	9998495	+	missense_variant	Missense_Mutation	SNP	G	A	A			CHC896T																					ENST00000264784.3:c.320C>T	p.Thr107Ile	p.T107I	ENST00000264784	NM_020041.2	107	aCt/aTt	0	not done		possiblydamaging	
REV1		inserm.fr	GRCh37	2	100024499	100024499	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1775T																					ENST00000258428.3:c.2440A>G	p.Met814Val	p.M814V	ENST00000258428	NM_001037872.1	814	Atg/Gtg	0	validated		probablydamaging	
ADH4		inserm.fr	GRCh37	4	100052704	100052704	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1719T																					ENST00000265512.7:c.794A>G	p.Lys265Arg	p.K265R	ENST00000265512	NM_000670.3	265	aAg/aGg	0	not done		benign	
ADH4		inserm.fr	GRCh37	4	100057768	100057768	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC429T									Valid												ENST00000265512.7:c.431A>G	p.Tyr144Cys	p.Y144C	ENST00000265512	NM_000670.3	144	tAc/tGc	0	validated		probablydamaging	
ADH4		inserm.fr	GRCh37	4	100057825	100057825	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC432T																					ENST00000265512.7:c.374A>G	p.Asp125Gly	p.D125G	ENST00000265512	NM_000670.3	125	gAt/gGt	0	not done		probablydamaging	
TOMM70A		inserm.fr	GRCh37	3	100096662	100096662	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T									Valid												ENST00000284320.5:c.979T>G	p.Tyr327Asp	p.Y327D	ENST00000284320	NM_014820.4	327	Tac/Gac	0	validated		possiblydamaging	
C9orf174		inserm.fr	GRCh37	9	100105839	100105839	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2052T																					ENST00000375202.2:c.2624A>C	p.Lys875Thr	p.K875T	ENST00000375202		875	aAg/aCg	0	not done		probablydamaging	
HHIPL1		inserm.fr	GRCh37	14	100129346	100129346	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1044T																					ENST00000330710.5:c.1636G>C	p.Glu546Gln	p.E546Q	ENST00000330710	NM_001127258.1	546	Gag/Cag	0	not done		probablydamaging	
ADH6		inserm.fr	GRCh37	4	100134786	100134786	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC451T																					ENST00000394899.2:c.239A>G	p.Glu80Gly	p.E80G	ENST00000394899	NM_001102470.1	80	gAa/gGa	0	validated		benign	
TM9SF2		inserm.fr	GRCh37	13	100153910	100153910	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1035T																					ENST00000376387.4:c.50T>C	p.Leu17Ser	p.L17S	ENST00000376387	NM_004800.2	17	tTg/tCg	0	validated		benign	
TM9SF2		inserm.fr	GRCh37	13	100169885	100169885	+	synonymous_variant	Silent	SNP	T	C	C			CHC1741T																					ENST00000376387.4:c.189T>C	p.Phe63=	p.F63=	ENST00000376387	NM_004800.2	63	ttT/ttC	0	not done		synonymous	
FRRS1		inserm.fr	GRCh37	1	100174614	100174614	+	stop_gained	Nonsense_Mutation	SNP	G	C	C			CHC302T									Valid												ENST00000287474.5:c.1721C>G	p.Ser574Ter	p.S574*	ENST00000287474	NM_001013660.2	574	tCa/tGa	0	validated		damaging	
FRRS1		inserm.fr	GRCh37	1	100183070	100183070	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1531T																					ENST00000287474.5:c.1132T>G	p.Phe378Val	p.F378V	ENST00000287474	NM_001013660.2	378	Ttt/Gtt	0	not done		probablydamaging	
CNTN5		inserm.fr	GRCh37	11	100221561	100221561	+	synonymous_variant	Silent	SNP	T	C	C			CHC1035T																					ENST00000524871.1:c.3159T>C	p.Asp1053=	p.D1053=	ENST00000524871	NM_014361.3	1053	gaT/gaC	0	validated		synonymous	
MEF2A		inserm.fr	GRCh37	15	100252735	100252735	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1597T																					ENST00000354410.5:c.1259A>C	p.Gln420Pro	p.Q420P	ENST00000354410	NM_005587.2	420	cAg/cCg	0	validated		benign	
AGL		inserm.fr	GRCh37	1	100327251	100327251	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1534T																					ENST00000294724.4:c.275A>C	p.Gln92Pro	p.Q92P	ENST00000294724	NM_000028.2	92	cAg/cCg	0	validated		possiblydamaging	
EPHB4		inserm.fr	GRCh37	7	100421267	100421267	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			BCB301T																					ENST00000358173.3:c.410A>G	p.Lys137Arg	p.K137R	ENST00000358173	NM_004444.4	137	aAg/aGg	0	validated		possiblydamaging	
C4orf17		inserm.fr	GRCh37	4	100434363	100434363	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	C	C			BCB109T									Valid												ENST00000326581.4:c.125A>C	p.Lys42Thr	p.K42T	ENST00000326581	NM_032149.2	42	aAa/aCa	0	validated		probablydamaging	
BLTP3B		inserm.fr	GRCh37	12	100452008	100452008	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC121T																					ENST00000279907.7:c.3047A>G	p.Asp1016Gly	p.D1016G	ENST00000279907	NM_015054.1	1016	gAt/gGt	0	validated		benign	
TRIP6		inserm.fr	GRCh37	7	100470365	100470365	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	C	C			CHC1600T																					ENST00000200457.4:c.1298A>C	p.Glu433Ala	p.E433A	ENST00000200457	NM_003302.2	433	gAg/gCg	0	not done		probablydamaging	
SRRT		inserm.fr	GRCh37	7	100484462	100484462	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1604T																					ENST00000347433.4:c.1694T>C	p.Leu565Pro	p.L565P	ENST00000347433		565	cTg/cCg	0	not done		possiblydamaging	
DRP2		inserm.fr	GRCh37	X	100497943	100497943	+	synonymous_variant	Silent	SNP	T	C	C			CHC2215T																					ENST00000395209.3:c.1026T>C	p.Phe342=	p.F342=	ENST00000395209	NM_001939.2	342	ttT/ttC	0	not done		synonymous	
GRIN3B		inserm.fr	GRCh37	19	1005094	1005094	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1556T																					ENST00000234389.3:c.1594T>C	p.Phe532Leu	p.F532L	ENST00000234389	NM_138690.1	532	Ttc/Ctc	0	not done		probablydamaging	
RPL36A		inserm.fr	GRCh37	X	100646036	100646036	+	splice_donor_variant	Splice_Site	SNP	T	C	C			CHC434T									Valid												ENST00000409170.3:c.35+2T>C		p.X12_splice	ENST00000409170				0	validated		damaging	
MUC17		inserm.fr	GRCh37	7	100678693	100678693	+	synonymous_variant	Silent	SNP	T	C	C			BCM257T																					ENST00000306151.4:c.3996T>C	p.Tyr1332=	p.Y1332=	ENST00000306151	NM_001040105.1	1332	taT/taC	0	validated		synonymous	
MUC17		inserm.fr	GRCh37	7	100680305	100680305	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2052T																					ENST00000306151.4:c.5608A>C	p.Thr1870Pro	p.T1870P	ENST00000306151	NM_001040105.1	1870	Aca/Cca	0	not done		benign	
RBP7		inserm.fr	GRCh37	1	10068246	10068246	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1754T																					ENST00000294435.7:c.268G>C	p.Asp90His	p.D90H	ENST00000294435	NM_052960.2	90	Gac/Cac	0	not done		benign	
VPS13B		inserm.fr	GRCh37	8	100821680	100821680	+	synonymous_variant	Silent	SNP	T	C	C			CHC1010T																					ENST00000358544.2:c.8094T>C	p.Phe2698=	p.F2698=	ENST00000358544	NM_017890.4	2698	ttT/ttC	0	not done		synonymous	
PCCA		inserm.fr	GRCh37	13	100909889	100909889	+	synonymous_variant	Silent	SNP	G	C	C			CHC1915T																					ENST00000376285.1:c.678G>C	p.Gly226=	p.G226=	ENST00000376285	NM_000282.3	226	ggG/ggC	0	validated		synonymous	
IMPG2		inserm.fr	GRCh37	3	100963006	100963006	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1082T																					ENST00000193391.7:c.2169A>G	p.Ile723Met	p.I723M	ENST00000193391	NM_016247.3	723	atA/atG	0	validated		benign	
CNNM1		inserm.fr	GRCh37	10	101090637	101090637	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC703T																					ENST00000356713.4:c.1493T>C	p.Val498Ala	p.V498A	ENST00000356713	NM_020348.2	498	gTc/gCc	0	validated		probablydamaging	
ASCC3		inserm.fr	GRCh37	6	101099460	101099460	+	synonymous_variant	Silent	SNP	T	C	C			CHC798T																					ENST00000369162.2:c.3051A>G	p.Lys1017=	p.K1017=	ENST00000369162	NM_006828.2	1017	aaA/aaG	0	validated		synonymous	
ASCC3		inserm.fr	GRCh37	6	101099479	101099479	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1209T																					ENST00000369162.2:c.3032T>G	p.Ile1011Ser	p.I1011S	ENST00000369162	NM_006828.2	1011	aTc/aGc	0	not done		probablydamaging	
DDIT4L		inserm.fr	GRCh37	4	101108956	101108956	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1545T																					ENST00000273990.2:c.460T>G	p.Phe154Val	p.F154V	ENST00000273990	NM_145244.3	154	Ttc/Gtc	0	not done		probablydamaging	
ASCC3		inserm.fr	GRCh37	6	101110274	101110274	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC433T									Valid												ENST00000369162.2:c.2425A>G	p.Thr809Ala	p.T809A	ENST00000369162	NM_006828.2	809	Aca/Gca	0	validated		probablydamaging	
SENP7		inserm.fr	GRCh37	3	101177898	101177898	+	splice_acceptor_variant	Splice_Site	SNP	T	C	C			CHC1568T																					ENST00000394095.2:c.187-2A>G		p.X63_splice	ENST00000394095	NM_020654.3			0	not done		possiblydamaging	
CLEC12A		inserm.fr	GRCh37	12	10131606	10131606	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1180T																					ENST00000355690.4:c.163T>C	p.Phe55Leu	p.F55L	ENST00000355690	NM_001207010.1	55	Ttt/Ctt	0	validated		benign	
EXTL2		inserm.fr	GRCh37	1	101339737	101339737	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1712T																					ENST00000370114.3:c.754A>G	p.Ile252Val	p.I252V	ENST00000370114	NM_001261440.1	252	Att/Gtt	0	not done		benign	
EXTL2		inserm.fr	GRCh37	1	101342359	101342359	+	synonymous_variant	Silent	SNP	T	C	C			CHC2052T																					ENST00000370114.3:c.495A>G	p.Ser165=	p.S165=	ENST00000370114	NM_001261440.1	165	tcA/tcG	0	not done		synonymous	
RPL24		inserm.fr	GRCh37	3	101400045	101400045	+	synonymous_variant	Silent	SNP	T	C	C			CHC433T																					ENST00000394077.3:c.408A>G	p.Ala136=	p.A136=	ENST00000394077	NM_000986.3	136	gcA/gcG	0	validated		synonymous	
DPH5		inserm.fr	GRCh37	1	101467118	101467118	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1731T																					ENST00000370109.3:c.395C>G	p.Ser132Cys	p.S132C	ENST00000370109	NM_001077395.1	132	tCt/tGt	0	not done		probablydamaging	
ABCC2		inserm.fr	GRCh37	10	101552011	101552011	+	synonymous_variant	Silent	SNP	T	C	C			BCM337T																					ENST00000370449.4:c.228T>C	p.Leu76=	p.L76=	ENST00000370449	NM_000392.3	76	ctT/ctC	0	validated		synonymous	
SLC5A8		inserm.fr	GRCh37	12	101577959	101577959	+	synonymous_variant	Silent	SNP	T	C	C			CHC2048T																					ENST00000536262.2:c.1005A>G	p.Pro335=	p.P335=	ENST00000536262	NM_145913.3	335	ccA/ccG	0	not done		synonymous	
SLC5A8		inserm.fr	GRCh37	12	101603557	101603557	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2103T																					ENST00000536262.2:c.70A>G	p.Ile24Val	p.I24V	ENST00000536262	NM_145913.3	24	Atc/Gtc	0	not done		benign	
NPAS2		inserm.fr	GRCh37	2	101607280	101607280	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1201T																					ENST00000335681.5:c.2057G>C	p.Gly686Ala	p.G686A	ENST00000335681	NM_002518.3	686	gGg/gCg	0	not done		benign	
UTP20		inserm.fr	GRCh37	12	101700511	101700511	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB325T									Valid												ENST00000261637.4:c.1967T>C	p.Phe656Ser	p.F656S	ENST00000261637	NM_014503.2	656	tTt/tCt	0	validated		probablydamaging	
PABPC1		inserm.fr	GRCh37	8	101717228	101717228	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1915T									Valid												ENST00000318607.5:c.1744A>G	p.Thr582Ala	p.T582A	ENST00000318607	NM_002568.3	582	Act/Gct	0	validated		probablydamaging	
CHSY1		inserm.fr	GRCh37	15	101717910	101717910	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM337T																					ENST00000254190.3:c.2092A>G	p.Ile698Val	p.I698V	ENST00000254190	NM_014918.4	698	Att/Gtt	0	validated		benign	
ARL1		inserm.fr	GRCh37	12	101796717	101796717	+	synonymous_variant	Silent	SNP	T	C	C			BCM723T																					ENST00000261636.8:c.150A>G	p.Gly50=	p.G50=	ENST00000261636	NM_001177.4	50	ggA/ggG	0	validated		synonymous	
KIAA1377		inserm.fr	GRCh37	11	101834423	101834423	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1137T																					ENST00000263468.8:c.2657T>C	p.Phe886Ser	p.F886S	ENST00000263468	NM_020802.2	886	tTc/tCc	0	not done		benign	
SPIC		inserm.fr	GRCh37	12	101871345	101871345	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1754T																					ENST00000551346.1:c.13G>C	p.Glu5Gln	p.E5Q	ENST00000551346		5	Gaa/Caa	0	not done		benign	
CNOT11		inserm.fr	GRCh37	2	101883263	101883263	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM739T																					ENST00000289382.3:c.1160A>C	p.Gln387Pro	p.Q387P	ENST00000289382	NM_017546.4	387	cAg/cCg	0	validated		benign	
YWHAZ		inserm.fr	GRCh37	8	101937183	101937183	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC703T																					ENST00000395957.2:c.379C>G	p.Arg127Gly	p.R127G	ENST00000395957		127	Cgt/Ggt	0	validated		probablydamaging	
YWHAZ		inserm.fr	GRCh37	8	101937239	101937239	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1915T																					ENST00000395957.2:c.323A>G	p.Asn108Ser	p.N108S	ENST00000395957		108	aAt/aGt	0	validated		benign	
SH2B2		inserm.fr	GRCh37	7	101957698	101957698	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC794T									Valid												ENST00000536178.1:c.1342G>C	p.Glu448Gln	p.E448Q	ENST00000536178		448	Gag/Cag	0	validated		possiblydamaging	
GPRASP2		inserm.fr	GRCh37	X	101972088	101972088	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1556T																					ENST00000543253.1:c.2291T>C	p.Phe764Ser	p.F764S	ENST00000543253	NM_001184874.2	764	tTt/tCt	0	not done		probablydamaging	
MYBPC1		inserm.fr	GRCh37	12	102057239	102057239	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1097T																					ENST00000452455.2:c.2182T>C	p.Ser728Pro	p.S728P	ENST00000452455	NM_001254718.1	728	Tct/Cct	0	validated		possiblydamaging	
DNMT1		inserm.fr	GRCh37	19	10246835	10246835	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB307T									Valid												ENST00000340748.4:c.4570A>G	p.Ser1524Gly	p.S1524G	ENST00000340748		1524	Agc/Ggc	0	validated		possiblydamaging	
PAX2		inserm.fr	GRCh37	10	102509638	102509638	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM695T																					ENST00000428433.1:c.179T>C	p.Val60Ala	p.V60A	ENST00000428433	NM_003987.3	60	gTc/gCc	0	validated		probablydamaging	
GRIK2		inserm.fr	GRCh37	6	102516250	102516250	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM265T									Valid												ENST00000421544.1:c.2591A>C	p.Glu864Ala	p.E864A	ENST00000421544	NM_021956.4	864	gAa/gCa	0	validated		possiblydamaging	
CCT5		inserm.fr	GRCh37	5	10258397	10258397	+	synonymous_variant	Silent	SNP	T	C	C			CHC884T																					ENST00000280326.4:c.705T>C	p.Ser235=	p.S235=	ENST00000280326	NM_012073.3	235	agT/agC	0	validated		synonymous	
PMCH		inserm.fr	GRCh37	12	102590925	102590925	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC805T																					ENST00000329406.4:c.274T>G	p.Leu92Val	p.L92V	ENST00000329406	NM_002674.2	92	Tta/Gta	0	not done		benign	
GRHL2		inserm.fr	GRCh37	8	102631864	102631864	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC322T									Valid												ENST00000251808.3:c.1196A>C	p.Asn399Thr	p.N399T	ENST00000251808	NM_024915.3	399	aAc/aCc	0	validated		possiblydamaging	
MOK		inserm.fr	GRCh37	14	102692628	102692628	+	downstream_gene_variant	3'Flank	SNP	A	C	C			CHC218T																								ENST00000361847	NM_014226.2			0	not done		synonymous	
MMP3		inserm.fr	GRCh37	11	102709315	102709315	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1061T									Valid												ENST00000299855.5:c.1196A>G	p.Lys399Arg	p.K399R	ENST00000299855	NM_002422.3	399	aAa/aGa	0	validated		possiblydamaging	
ERP44		inserm.fr	GRCh37	9	102744945	102744945	+	synonymous_variant	Silent	SNP	T	C	C			CHC1600T																					ENST00000262455.6:c.1170A>G	p.Leu390=	p.L390=	ENST00000262455	NM_015051.1	390	ctA/ctG	0	not done		synonymous	
C10orf2		inserm.fr	GRCh37	10	102753147	102753147	+	synonymous_variant	Silent	SNP	T	C	C			CHC889T																					ENST00000311916.2:c.1935T>C	p.Thr645=	p.T645=	ENST00000311916	NM_021830.4	645	acT/acC	0	not done		synonymous	
PDZD7		inserm.fr	GRCh37	10	102770514	102770514	+	downstream_gene_variant	3'Flank	SNP	T	C	C			BCM265T																								ENST00000370220				0	validated			
TECPR2		inserm.fr	GRCh37	14	102873738	102873738	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC798T									Valid												ENST00000359520.7:c.283G>C	p.Gly95Arg	p.G95R	ENST00000359520	NM_014844.3	95	Ggc/Cgc	0	validated		probablydamaging	
IL1RL1		inserm.fr	GRCh37	2	102954750	102954750	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1736T																					ENST00000233954.1:c.26T>C	p.Leu9Pro	p.L9P	ENST00000233954	NM_016232.4	9	cTc/cCc	0	not done		probablydamaging	
DNAJC2		inserm.fr	GRCh37	7	102964945	102964945	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1531T																					ENST00000379263.3:c.637A>G	p.Ile213Val	p.I213V	ENST00000379263	NM_014377.1	213	Ata/Gta	0	not done		benign	
DNAJC2		inserm.fr	GRCh37	7	102967116	102967116	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC303T									Valid												ENST00000379263.3:c.446C>G	p.Ser149Cys	p.S149C	ENST00000379263	NM_014377.1	149	tCt/tGt	0	validated		probablydamaging	
ANKRD9		inserm.fr	GRCh37	14	102974053	102974053	+	synonymous_variant	Silent	SNP	G	C	C			CHC197T																					ENST00000286918.4:c.174C>G	p.Ala58=	p.A58=	ENST00000286918	NM_152326.2	58	gcC/gcG	0	validated		synonymous	
DYNC2H1		inserm.fr	GRCh37	11	103025442	103025442	+	synonymous_variant	Silent	SNP	T	C	C			CHC2211T																					ENST00000398093.3:c.3477T>C	p.Phe1159=	p.F1159=	ENST00000398093		1159	ttT/ttC	0	not done		synonymous	
RELN		inserm.fr	GRCh37	7	103179718	103179718	+	synonymous_variant	Silent	SNP	G	C	C			CHC1746T																					ENST00000428762.1:c.6987C>G	p.Thr2329=	p.T2329=	ENST00000428762	NM_005045.3	2329	acC/acG	0	not done		synonymous	
PAH		inserm.fr	GRCh37	12	103237429	103237429	+	synonymous_variant	Silent	SNP	T	C	C			CHC303T																					ENST00000553106.1:c.1194A>G	p.Lys398=	p.K398=	ENST00000553106	NM_000277.1	398	aaA/aaG	0	validated		synonymous	
UBR5		inserm.fr	GRCh37	8	103273480	103273480	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM695T																					ENST00000520539.1:c.7850T>G	p.Leu2617Arg	p.L2617R	ENST00000520539	NM_015902.5	2617	cTc/cGc	0	validated		probablydamaging	
UBR5		inserm.fr	GRCh37	8	103307947	103307947	+	synonymous_variant	Silent	SNP	A	C	C			CHC433T																					ENST00000520539.1:c.3729T>G	p.Leu1243=	p.L1243=	ENST00000520539	NM_015902.5	1243	ctT/ctG	0	validated		synonymous	
UBR5		inserm.fr	GRCh37	8	103323558	103323558	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2029T																					ENST00000520539.1:c.2585A>G	p.Lys862Arg	p.K862R	ENST00000520539	NM_015902.5	862	aAg/aGg	0	not done		possiblydamaging	
COL11A1		inserm.fr	GRCh37	1	103348771	103348771	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2098T																					ENST00000370096.3:c.4955A>G	p.Asp1652Gly	p.D1652G	ENST00000370096	NM_001854.3	1652	gAc/gGc	0	not done		probablydamaging	
SLC25A53		inserm.fr	GRCh37	X	103349362	103349362	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC793T									Valid												ENST00000357421.4:c.579T>G	p.Phe193Leu	p.F193L	ENST00000357421	NM_001012755.3	193	ttT/ttG	0	validated		probablydamaging	
UBR5		inserm.fr	GRCh37	8	103359266	103359266	+	synonymous_variant	Silent	SNP	T	C	C			CHC2321T																					ENST00000520539.1:c.441A>G	p.Ser147=	p.S147=	ENST00000520539	NM_015902.5	147	tcA/tcG	0	validated		synonymous	
CCDC168		inserm.fr	GRCh37	13	103397553	103397553	+	non_coding_transcript_exon_variant	RNA	SNP	G	C	C			CHC1531T																					ENST00000430111.1:n.1926G>C		*642*	ENST00000430111				0	not done			
TEX30		inserm.fr	GRCh37	13	103418881	103418881	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1611T																					ENST00000376032.4:c.554A>G	p.His185Arg	p.H185R	ENST00000376032	NM_138779.3	185	cAc/cGc	0	not done		benign	
COL11A1		inserm.fr	GRCh37	1	103491883	103491883	+	synonymous_variant	Silent	SNP	T	C	C			CHC1731T																					ENST00000370096.3:c.786A>G	p.Ala262=	p.A262=	ENST00000370096	NM_001854.3	262	gcA/gcG	0	not done		synonymous	
FGF8		inserm.fr	GRCh37	10	103530100	103530100	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1751T																					ENST00000320185.2:c.721C>G	p.Pro241Ala	p.P241A	ENST00000320185	NM_033163.3	241	Ccc/Gcc	0	not done		probablydamaging	
KIF1B		inserm.fr	GRCh37	1	10355716	10355716	+	splice_acceptor_variant	Splice_Site	SNP	A	C	C			CHC1763T																					ENST00000263934.6:c.1533-2A>C		p.X511_splice	ENST00000263934	NM_015074.3			0	not done		damaging	
MGEA5		inserm.fr	GRCh37	10	103558847	103558847	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1745T																					ENST00000361464.3:c.1561A>G	p.Ile521Val	p.I521V	ENST00000361464	NM_012215.3	521	Att/Gtt	0	not done		benign	
MGEA5		inserm.fr	GRCh37	10	103560138	103560138	+	synonymous_variant	Silent	SNP	A	C	C			CHC1148T																					ENST00000361464.3:c.1056T>G	p.Thr352=	p.T352=	ENST00000361464	NM_012215.3	352	acT/acG	0	not done		synonymous	
MYH4		inserm.fr	GRCh37	17	10356571	10356571	+	synonymous_variant	Silent	SNP	G	C	C			CHC433T																					ENST00000255381.2:c.3009C>G	p.Leu1003=	p.L1003=	ENST00000255381	NM_017533.2	1003	ctC/ctG	0	validated		synonymous	
EXOC3L4		inserm.fr	GRCh37	14	103573126	103573126	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1738T																					ENST00000380069.3:c.1471A>C	p.Ser491Arg	p.S491R	ENST00000380069	NM_001077594.1	491	Agt/Cgt	0	not done		possiblydamaging	
MANBA		inserm.fr	GRCh37	4	103595213	103595213	+	synonymous_variant	Silent	SNP	T	C	C			CHC1739T																					ENST00000226578.4:c.975A>G	p.Thr325=	p.T325=	ENST00000226578	NM_005908.3	325	acA/acG	0	not done		synonymous	
KIF1B		inserm.fr	GRCh37	1	10364552	10364552	+	intron_variant	Intron	SNP	T	C	C			CHC2215T																					ENST00000263934.6:c.1977+7248T>C		*659*	ENST00000263934	NM_015074.3			0	not done		synonymous	
LHFPL3		inserm.fr	GRCh37	7	103969505	103969505	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC327T																					ENST00000535008.1:c.278G>C	p.Ser93Thr	p.S93T	ENST00000535008		93	aGc/aCc	0	validated		benign	
STAB2		inserm.fr	GRCh37	12	103984803	103984803	+	synonymous_variant	Silent	SNP	T	C	C			CHC429T																					ENST00000388887.2:c.210T>C	p.Asp70=	p.D70=	ENST00000388887	NM_017564.9	70	gaT/gaC	0	validated		synonymous	
NHEDC2		inserm.fr	GRCh37	4	103987637	103987637	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC301T																					ENST00000394785.3:c.118A>G	p.Ile40Val	p.I40V	ENST00000394785	NM_178833.4	40	Ata/Gta	0	validated		benign	
BAG5		inserm.fr	GRCh37	14	104027474	104027474	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1207T																					ENST00000337322.4:c.151A>G	p.Ile51Val	p.I51V	ENST00000337322	NM_001015049.2	51	Att/Gtt	0	not done		benign	
PDGFD		inserm.fr	GRCh37	11	104034650	104034650	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC307T																					ENST00000393158.2:c.6C>G	p.His2Gln	p.H2Q	ENST00000393158		2	caC/caG	0	validated		benign	
ATP6V1C1		inserm.fr	GRCh37	8	104061181	104061181	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC327T																					ENST00000395862.3:c.284G>C	p.Gly95Ala	p.G95A	ENST00000395862	NM_001695.4	95	gGa/gCa	0	validated		possiblydamaging	
GBF1		inserm.fr	GRCh37	10	104129524	104129524	+	synonymous_variant	Silent	SNP	A	C	C			CHC1720T																					ENST00000369983.3:c.3204A>C	p.Pro1068=	p.P1068=	ENST00000369983	NM_004193.2	1068	ccA/ccC	0	not done		synonymous	
ALDOB		inserm.fr	GRCh37	9	104190767	104190767	+	synonymous_variant	Silent	SNP	T	C	C			CHC2029T																					ENST00000374855.4:c.363A>G	p.Lys121=	p.K121=	ENST00000374855	NM_000035.3	121	aaA/aaG	0	not done		synonymous	
RNF20		inserm.fr	GRCh37	9	104323398	104323398	+	synonymous_variant	Silent	SNP	T	C	C			CHC2200T																					ENST00000389120.3:c.2535T>C	p.Asp845=	p.D845=	ENST00000389120	NM_019592.6	845	gaT/gaC	0	not done		synonymous	
FZD6		inserm.fr	GRCh37	8	104342286	104342286	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1602T																					ENST00000358755.4:c.1945G>C	p.Glu649Gln	p.E649Q	ENST00000358755	NM_001164616.1	649	Gaa/Caa	0	not done		probablydamaging	
MYH2		inserm.fr	GRCh37	17	10440583	10440583	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1207T																					ENST00000245503.5:c.1864C>G	p.Gln622Glu	p.Q622E	ENST00000245503	NM_017534.5	622	Cag/Gag	0	not done		benign	
TEX13A		inserm.fr	GRCh37	X	104463813	104463813	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC451T																					ENST00000413579.1:c.1063C>G	p.Gln355Glu	p.Q355E	ENST00000413579		355	Cag/Gag	0	validated		possiblydamaging	
HCFC2		inserm.fr	GRCh37	12	104476562	104476562	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1738T																					ENST00000229330.4:c.946G>C	p.Ala316Pro	p.A316P	ENST00000229330	NM_013320.2	316	Gct/Cct	0	not done		probablydamaging	
ASPG		inserm.fr	GRCh37	14	104570811	104570811	+	synonymous_variant	Silent	SNP	T	C	C			CHC2048T																					ENST00000551177.1:c.924T>C	p.Tyr308=	p.Y308=	ENST00000551177	NM_001080464.2	308	taT/taC	0	not done		synonymous	
KLRD1		inserm.fr	GRCh37	12	10462068	10462068	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2200T																					ENST00000336164.4:c.89T>C	p.Leu30Ser	p.L30S	ENST00000336164	NM_002262.3	30	tTg/tCg	0	not done		probablydamaging	
RP1L1		inserm.fr	GRCh37	8	10465965	10465965	+	synonymous_variant	Silent	SNP	T	C	C			CHC1708T																					ENST00000382483.3:c.5643A>G	p.Gly1881=	p.G1881=	ENST00000382483	NM_178857.5	1881	ggA/ggG	0	not done		synonymous	
TYK2		inserm.fr	GRCh37	19	10472628	10472628	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM783T																					ENST00000525621.1:c.1777T>G	p.Ser593Ala	p.S593A	ENST00000525621	NM_003331.4	593	Tcc/Gcc	0	validated		benign	
TYK2		inserm.fr	GRCh37	19	10472805	10472805	+	synonymous_variant	Silent	SNP	G	C	C			CHC258T																					ENST00000525621.1:c.1722C>G	p.Leu574=	p.L574=	ENST00000525621	NM_003331.4	574	ctC/ctG	0	validated		synonymous	
CASP5		inserm.fr	GRCh37	11	104872789	104872789	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1598T																					ENST00000393141.2:c.722A>G	p.Tyr241Cys	p.Y241C	ENST00000393141	NM_004347.3	241	tAc/tGc	0	not done		probablydamaging	
CARD17P		inserm.fr	GRCh37	11	104971311	104971311	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC609T																					ENST00000375707.1:c.203C>G	p.Ala68Gly	p.A68G	ENST00000375707	NM_001007232.1	68	gCa/gGa	0	validated		probablydamaging	
INA		inserm.fr	GRCh37	10	105048264	105048264	+	synonymous_variant	Silent	SNP	T	C	C			CHC793T																					ENST00000369849.4:c.1338T>C	p.Leu446=	p.L446=	ENST00000369849	NM_032727.3	446	ctT/ctC	0	validated		synonymous	
PUS7		inserm.fr	GRCh37	7	105132015	105132015	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM321T									Valid												ENST00000356362.2:c.892A>G	p.Ile298Val	p.I298V	ENST00000356362	NM_019042.3	298	Ata/Gta	0	validated		probablydamaging	
NRK		inserm.fr	GRCh37	X	105153264	105153264	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM529T																					ENST00000428173.2:c.1634A>C	p.Gln545Pro	p.Q545P	ENST00000428173		545	cAg/cCg	0	validated		benign	
PDCD11		inserm.fr	GRCh37	10	105176341	105176341	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC889T																					ENST00000369797.3:c.1612G>C	p.Asp538His	p.D538H	ENST00000369797	NM_014976.1	538	Gat/Cat	0	not done		probablydamaging	
NRK		inserm.fr	GRCh37	X	105190385	105190385	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM711T																					ENST00000428173.2:c.4285A>C	p.Ser1429Arg	p.S1429R	ENST00000428173		1429	Agc/Cgc	0	validated		probablydamaging	
SLX4IP		inserm.fr	GRCh37	20	10541468	10541468	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC2358T																					ENST00000334534.5:c.238G>C	p.Gly80Arg	p.G80R	ENST00000334534	NM_001009608.1	80	Ggt/Cgt	0	validated		damaging	
MYH3		inserm.fr	GRCh37	17	10543540	10543540	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000583535.1:c.2455A>G	p.Ile819Val	p.I819V	ENST00000583535	NM_002470.3	819	Att/Gtt	0	not done		benign	
ALDH1L2		inserm.fr	GRCh37	12	105443761	105443761	+	synonymous_variant	Silent	SNP	G	C	C			BCM543T																					ENST00000258494.9:c.1611C>G	p.Thr537=	p.T537=	ENST00000258494	NM_001034173.3	537	acC/acG	0	validated		synonymous	
ALDH1L2		inserm.fr	GRCh37	12	105464492	105464492	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC891T																					ENST00000258494.9:c.284A>G	p.Tyr95Cys	p.Y95C	ENST00000258494	NM_001034173.3	95	tAc/tGc	0	not done		probablydamaging	
LRP12		inserm.fr	GRCh37	8	105509306	105509306	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC909T																					ENST00000276654.5:c.1474A>G	p.Arg492Gly	p.R492G	ENST00000276654	NM_013437.4	492	Aga/Gga	0	not done		probablydamaging	
LRP12		inserm.fr	GRCh37	8	105510070	105510070	+	stop_gained	Nonsense_Mutation	SNP	A	C	C			CHC1044T																					ENST00000276654.5:c.710T>G	p.Leu237Ter	p.L237*	ENST00000276654	NM_013437.4	237	tTa/tGa	0	not done		damaging	
DMRT2		inserm.fr	GRCh37	9	1056390	1056390	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1207T																					ENST00000382251.3:c.803T>C	p.Leu268Pro	p.L268P	ENST00000382251		268	cTg/cCg	0	not done		probablydamaging	
GRIA4		inserm.fr	GRCh37	11	105842757	105842757	+	splice_donor_variant	Splice_Site	SNP	T	C	C			BCM567T																					ENST00000282499.5:c.2409+2T>C		p.X803_splice	ENST00000282499	NM_000829.3			0	validated		damaging	
WDR96		inserm.fr	GRCh37	10	105889984	105889984	+	synonymous_variant	Silent	SNP	T	C	C			CHC326T																					ENST00000357060.3:c.4911A>G	p.Ser1637=	p.S1637=	ENST00000357060	NM_025145.5	1637	tcA/tcG	0	validated		synonymous	
WDR96		inserm.fr	GRCh37	10	105889984	105889984	+	synonymous_variant	Silent	SNP	T	C	C			CHC326T																					ENST00000357060.3:c.4911A>G	p.Ser1637=	p.S1637=	ENST00000357060	NM_025145.5	1637	tcA/tcG	0	validated		synonymous	
CRIP2		inserm.fr	GRCh37	14	105945519	105945519	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1720T																					ENST00000483017.3:c.686G>C	p.Arg229Pro	p.R229P	ENST00000483017	NM_001270837.1	229	cGc/cCc	0	not done		probablydamaging	
SLX4IP		inserm.fr	GRCh37	20	10604011	10604011	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1601T																					ENST00000334534.5:c.1211A>C	p.Tyr404Ser	p.Y404S	ENST00000334534	NM_001009608.1	404	tAc/tCc	0	not done		benign	
ITPRIP		inserm.fr	GRCh37	10	106075397	106075397	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC327T																					ENST00000278071.2:c.413A>G	p.Asn138Ser	p.N138S	ENST00000278071	NM_033397.3	138	aAc/aGc	0	validated		benign	
MORC4		inserm.fr	GRCh37	X	106228429	106228429	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2216T																					ENST00000355610.4:c.571A>G	p.Ile191Val	p.I191V	ENST00000355610	NM_001085354.2	191	Atc/Gtc	0	not done		probablydamaging	
RP11-127H5.1		inserm.fr	GRCh37	8	106258581	106258581	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	C	C			CHC1211T																					ENST00000518180.1:c.113A>C	p.Asp38Ala	p.D38A	ENST00000518180		38	gAc/gCc	0	not done			
PPA2		inserm.fr	GRCh37	4	106395065	106395065	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1725T																					ENST00000341695.5:c.143A>G	p.Tyr48Cys	p.Y48C	ENST00000341695	NM_176869.2	48	tAc/tGc	0	not done		probablydamaging	
NUAK1		inserm.fr	GRCh37	12	106461719	106461719	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC896T																					ENST00000261402.2:c.847A>G	p.Ile283Val	p.I283V	ENST00000261402	NM_014840.2	283	Ata/Gta	0	not done		probablydamaging	
PIK3CG		inserm.fr	GRCh37	7	106524613	106524613	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB231T																					ENST00000359195.3:c.2774T>C	p.Val925Ala	p.V925A	ENST00000359195	NM_002649.2	925	gTg/gCg	0	validated		possiblydamaging	
EFNA5		inserm.fr	GRCh37	5	106716990	106716990	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1192T																					ENST00000333274.6:c.653T>G	p.Leu218Arg	p.L218R	ENST00000333274	NM_001962.2	218	cTa/cGa	0	not done		probablydamaging	
FRMPD3		inserm.fr	GRCh37	X	106796135	106796135	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM375T																					ENST00000276185.4:c.720G>C	p.Gln240His	p.Q240H	ENST00000276185		240	caG/caC	0	validated			
GUCY1A2		inserm.fr	GRCh37	11	106810383	106810383	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC258T									Valid												ENST00000282249.2:c.1009A>G	p.Met337Val	p.M337V	ENST00000282249	NM_001256424.1	337	Atg/Gtg	0	validated		probablydamaging	
ZFPM2		inserm.fr	GRCh37	8	106814979	106814979	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2208T																					ENST00000407775.2:c.2669T>C	p.Leu890Pro	p.L890P	ENST00000407775	NM_012082.3	890	cTg/cCg	0	not done		probablydamaging	
NPNT		inserm.fr	GRCh37	4	106816867	106816867	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2208T																					ENST00000427316.2:c.58G>C	p.Glu20Gln	p.E20Q	ENST00000427316	NM_001184691.1	20	Gag/Cag	0	not done		possiblydamaging	
RFX4		inserm.fr	GRCh37	12	107002651	107002651	+	synonymous_variant	Silent	SNP	T	C	C			CHC1756T																					ENST00000357881.4:c.147T>C	p.Ser49=	p.S49=	ENST00000357881	NM_001206691.1	49	tcT/tcC	0	not done		synonymous	
SORCS3		inserm.fr	GRCh37	10	107015497	107015497	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1148T																					ENST00000369701.3:c.3275T>C	p.Leu1092Ser	p.L1092S	ENST00000369701	NM_014978.1	1092	tTg/tCg	0	not done		benign	
MID2		inserm.fr	GRCh37	X	107084218	107084218	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2052T																					ENST00000262843.6:c.323A>C	p.Lys108Thr	p.K108T	ENST00000262843	NM_052817.2	108	aAg/aCg	0	not done		probablydamaging	
EFNB2		inserm.fr	GRCh37	13	107145609	107145609	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1594T																					ENST00000245323.4:c.781C>G	p.Pro261Ala	p.P261A	ENST00000245323	NM_004093.3	261	Ccg/Gcg	0	not done		benign	
TEX13B		inserm.fr	GRCh37	X	107224715	107224715	+	synonymous_variant	Silent	SNP	T	C	C			CHC1598T																					ENST00000302917.1:c.534A>G	p.Thr178=	p.T178=	ENST00000302917	NM_031273.2	178	acA/acG	0	not done		synonymous	
OR13C8		inserm.fr	GRCh37	9	107332059	107332059	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC884T									Valid												ENST00000335040.1:c.611T>C	p.Leu204Pro	p.L204P	ENST00000335040	NM_001004483.1	204	cTg/cCg	0	validated		possiblydamaging	
SLC26A4		inserm.fr	GRCh37	7	107350589	107350589	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC796T									Valid												ENST00000265715.3:c.2180T>C	p.Leu727Pro	p.L727P	ENST00000265715	NM_000441.1	727	cTc/cCc	0	validated		probablydamaging	
ATG4A		inserm.fr	GRCh37	X	107393394	107393394	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1152T																					ENST00000372232.3:c.827T>C	p.Ile276Thr	p.I276T	ENST00000372232	NM_052936.3	276	aTc/aCc	0	not done		possiblydamaging	
SLC26A3		inserm.fr	GRCh37	7	107414460	107414460	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM375T																					ENST00000340010.5:c.1912A>G	p.Asn638Asp	p.N638D	ENST00000340010	NM_000111.2	638	Aac/Gac	0	validated		benign	
COL4A6		inserm.fr	GRCh37	X	107424158	107424158	+	synonymous_variant	Silent	SNP	T	C	C			CHC1603T																					ENST00000372216.4:c.1995A>G	p.Pro665=	p.P665=	ENST00000372216	NM_001847.2	665	ccA/ccG	0	not done		synonymous	
OR13D1		inserm.fr	GRCh37	9	107456872	107456872	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB307T									Valid												ENST00000318763.5:c.170T>C	p.Leu57Pro	p.L57P	ENST00000318763	NM_001004484.1	57	cTt/cCt	0	validated		possiblydamaging	
NIPSNAP3B		inserm.fr	GRCh37	9	107528699	107528699	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC789T																					ENST00000374762.3:c.154T>C	p.Phe52Leu	p.F52L	ENST00000374762	NM_018376.2	52	Ttc/Ctc	0	not done		possiblydamaging	
NIPSNAP3B		inserm.fr	GRCh37	9	107535312	107535312	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC909T																					ENST00000374762.3:c.702G>C	p.Gln234His	p.Q234H	ENST00000374762	NM_018376.2	234	caG/caC	0	not done		probablydamaging	
ABCA1		inserm.fr	GRCh37	9	107558432	107558432	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC121T																					ENST00000374736.3:c.5284A>G	p.Ile1762Val	p.I1762V	ENST00000374736	NM_005502.3	1762	Atc/Gtc	0	validated		probablydamaging	
PIEZO2		inserm.fr	GRCh37	18	10770167	10770167	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM397T																					ENST00000503781.3:c.2850T>G	p.Ile950Met	p.I950M	ENST00000503781	NM_022068.2	950	atT/atG	0	validated			
FBXL17		inserm.fr	GRCh37	5	107703551	107703551	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1207T																					ENST00000542267.1:c.1097A>G	p.Asp366Gly	p.D366G	ENST00000542267	NM_001163315.2	366	gAt/gGt	0	not done		probablydamaging	
RAB39A		inserm.fr	GRCh37	11	107832753	107832753	+	synonymous_variant	Silent	SNP	T	C	C			CHC1044T																					ENST00000320578.2:c.309T>C	p.His103=	p.H103=	ENST00000320578	NM_017516.1	103	caT/caC	0	not done		synonymous	
CTR9		inserm.fr	GRCh37	11	10800556	10800556	+	synonymous_variant	Silent	SNP	T	C	C			CHC433T																					ENST00000361367.2:c.3426T>C	p.Gly1142=	p.G1142=	ENST00000361367	NM_014633.3	1142	ggT/ggC	0	validated		synonymous	
NPAT		inserm.fr	GRCh37	11	108043137	108043137	+	synonymous_variant	Silent	SNP	T	C	C			CHC1763T																					ENST00000278612.8:c.2574A>G	p.Thr858=	p.T858=	ENST00000278612	NM_002519.2	858	acA/acG	0	not done		synonymous	
HHLA2		inserm.fr	GRCh37	3	108072410	108072410	+	synonymous_variant	Silent	SNP	T	C	C			CHC429T																					ENST00000357759.5:c.201T>C	p.Asp67=	p.D67=	ENST00000357759	NM_007072.2	67	gaT/gaC	0	validated		synonymous	
HHLA2		inserm.fr	GRCh37	3	108081264	108081264	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM337T																					ENST00000357759.5:c.1079T>C	p.Leu360Pro	p.L360P	ENST00000357759	NM_007072.2	360	cTg/cCg	0	validated		benign	
HHLA2		inserm.fr	GRCh37	3	108094605	108094605	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2141T																					ENST00000357759.5:c.1117G>C	p.Glu373Gln	p.E373Q	ENST00000357759	NM_007072.2	373	Gaa/Caa	0	not done		probablydamaging	
MYH15		inserm.fr	GRCh37	3	108139963	108139963	+	synonymous_variant	Silent	SNP	T	C	C			CHC1192T																					ENST00000273353.3:c.3861A>G	p.Ala1287=	p.A1287=	ENST00000273353	NM_014981.1	1287	gcA/gcG	0	not done		synonymous	
MYH15		inserm.fr	GRCh37	3	108160016	108160016	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2048T																					ENST00000273353.3:c.2807A>G	p.Glu936Gly	p.E936G	ENST00000273353	NM_014981.1	936	gAg/gGg	0	not done		benign	
EIF4G2		inserm.fr	GRCh37	11	10819364	10819364	+	stop_retained_variant	Silent	SNP	T	C	C			CHC433T																					ENST00000526148.1:c.2723A>G	p.Ter908=	p.*908=	ENST00000526148	NM_001172705.1	908	tAa/tGa	0	validated		synonymous	
ATM		inserm.fr	GRCh37	11	108196870	108196870	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC303T									Valid												ENST00000278616.4:c.6893T>C	p.Val2298Ala	p.V2298A	ENST00000278616	NM_000051.3	2298	gTa/gCa	0	validated		probablydamaging	
EXPH5		inserm.fr	GRCh37	11	108382711	108382711	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC433T									Valid												ENST00000265843.4:c.3523T>G	p.Leu1175Val	p.L1175V	ENST00000265843	NM_015065.2	1175	Tta/Gta	0	validated		probablydamaging	
TRAT1		inserm.fr	GRCh37	3	108565968	108565968	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC884T																					ENST00000295756.6:c.206T>C	p.Met69Thr	p.M69T	ENST00000295756	NM_016388.2	69	aTg/aCg	0	validated		probablydamaging	
WSCD2		inserm.fr	GRCh37	12	108600172	108600172	+	synonymous_variant	Silent	SNP	T	C	C			CHC1545T																					ENST00000332082.4:c.489T>C	p.Cys163=	p.C163=	ENST00000332082		163	tgT/tgC	0	not done		synonymous	
SLC5A7		inserm.fr	GRCh37	2	108614425	108614425	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2103T																					ENST00000264047.2:c.580T>C	p.Cys194Arg	p.C194R	ENST00000264047	NM_021815.2	194	Tgc/Cgc	0	not done		probablydamaging	
GUCA1C		inserm.fr	GRCh37	3	108672535	108672535	+	synonymous_variant	Silent	SNP	T	C	C			CHC1708T																					ENST00000261047.3:c.75A>G	p.Thr25=	p.T25=	ENST00000261047	NM_005459.3	25	acA/acG	0	not done		synonymous	
MORC1		inserm.fr	GRCh37	3	108690207	108690207	+	synonymous_variant	Silent	SNP	T	C	C			CHC1205T																					ENST00000232603.5:c.2520A>G	p.Ser840=	p.S840=	ENST00000232603	NM_014429.3	840	tcA/tcG	0	not done		synonymous	
ZBED5		inserm.fr	GRCh37	11	10874860	10874860	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1756T																					ENST00000432999.2:c.1633A>G	p.Ile545Val	p.I545V	ENST00000432999	NM_021211.3	545	Att/Gtt	0	not done		benign	
ZBED5		inserm.fr	GRCh37	11	10875781	10875781	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC432T																					ENST00000432999.2:c.712A>G	p.Ile238Val	p.I238V	ENST00000432999	NM_021211.3	238	Ata/Gta	0	not done		possiblydamaging	
LIG4		inserm.fr	GRCh37	13	108863014	108863014	+	synonymous_variant	Silent	SNP	T	C	C			CHC793T																					ENST00000356922.4:c.603A>G	p.Gln201=	p.Q201=	ENST00000356922	NM_002312.3	201	caA/caG	0	validated		synonymous	
IDI1		inserm.fr	GRCh37	10	1088674	1088674	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1180T																					ENST00000381344.3:c.435T>G	p.His145Gln	p.H145Q	ENST00000381344	NM_004508.2	145	caT/caG	0	validated		probablydamaging	
ABHD13		inserm.fr	GRCh37	13	108882031	108882031	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2141T																					ENST00000375898.3:c.465A>C	p.Lys155Asn	p.K155N	ENST00000375898	NM_032859.2	155	aaA/aaC	0	not done		possiblydamaging	
FOXO3		inserm.fr	GRCh37	6	108985053	108985053	+	synonymous_variant	Silent	SNP	T	C	C			CHC301T																					ENST00000406360.1:c.1017T>C	p.Asp339=	p.D339=	ENST00000406360	NM_001455.3	339	gaT/gaC	0	validated		synonymous	
SULT1C4		inserm.fr	GRCh37	2	108998251	108998251	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC304T									Valid												ENST00000272452.2:c.203T>C	p.Ile68Thr	p.I68T	ENST00000272452	NM_006588.2	68	aTa/aCa	0	validated		probablydamaging	
GCC2		inserm.fr	GRCh37	2	109099535	109099535	+	synonymous_variant	Silent	SNP	A	C	C			CHC320T																					ENST00000309863.6:c.3363A>C	p.Val1121=	p.V1121=	ENST00000309863	NM_181453.3	1121	gtA/gtC	0	validated		synonymous	
MAN2A1		inserm.fr	GRCh37	5	109106237	109106237	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC437T																					ENST00000261483.4:c.1191A>C	p.Gln397His	p.Q397H	ENST00000261483	NM_002372.2	397	caA/caC	0	not done		benign	
EIF3E		inserm.fr	GRCh37	8	109240581	109240581	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC736T									Valid												ENST00000220849.5:c.637T>G	p.Trp213Gly	p.W213G	ENST00000220849	NM_001568.2	213	Tgg/Ggg	0	validated		probablydamaging	
SESN1		inserm.fr	GRCh37	6	109322579	109322579	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC805T																					ENST00000436639.2:c.458A>G	p.Tyr153Cys	p.Y153C	ENST00000436639	NM_014454.2	153	tAt/tGt	0	not done		probablydamaging	
GPSM2		inserm.fr	GRCh37	1	109439679	109439679	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2052T																					ENST00000406462.2:c.250T>C	p.Tyr84His	p.Y84H	ENST00000406462		84	Tat/Cat	0	not done		possiblydamaging	
GPSM2		inserm.fr	GRCh37	1	109466721	109466721	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC155T									Valid												ENST00000406462.2:c.1700G>C	p.Ser567Thr	p.S567T	ENST00000406462		567	aGt/aCt	0	validated		possiblydamaging	
WDR47		inserm.fr	GRCh37	1	109566050	109566050	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM735T																					ENST00000400794.3:c.85A>G	p.Ile29Val	p.I29V	ENST00000400794		29	Att/Gtt	0	validated		probablydamaging	
ZNF462		inserm.fr	GRCh37	9	109691472	109691472	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1040T																					ENST00000277225.5:c.5279T>C	p.Leu1760Pro	p.L1760P	ENST00000277225		1760	cTc/cCc	0	not done		probablydamaging	
MYO16		inserm.fr	GRCh37	13	109704739	109704739	+	synonymous_variant	Silent	SNP	A	C	C			CHC1763T																					ENST00000356711.2:c.2898A>C	p.Arg966=	p.R966=	ENST00000356711	NM_015011.1	966	cgA/cgC	0	not done		synonymous	
ZBTB24		inserm.fr	GRCh37	6	109787591	109787591	+	synonymous_variant	Silent	SNP	T	C	C			CHC793T																					ENST00000230122.3:c.1557A>G	p.Ser519=	p.S519=	ENST00000230122	NM_014797.2	519	tcA/tcG	0	validated		synonymous	
TMEM232		inserm.fr	GRCh37	5	109904228	109904228	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM783T																					ENST00000455884.2:c.1375A>G	p.Asn459Asp	p.N459D	ENST00000455884		459	Aac/Gac	0	validated		probablydamaging	
ZC3H12C		inserm.fr	GRCh37	11	110035640	110035640	+	synonymous_variant	Silent	SNP	T	C	C			CHC1154T																					ENST00000278590.3:c.1830T>C	p.Arg610=	p.R610=	ENST00000278590	NM_033390.1	610	cgT/cgC	0	not done		synonymous	
TRHR		inserm.fr	GRCh37	8	110100338	110100338	+	synonymous_variant	Silent	SNP	T	C	C			BCM321T																					ENST00000518632.1:c.597T>C	p.Phe199=	p.F199=	ENST00000518632		199	ttT/ttC	0	validated		synonymous	
PHF14		inserm.fr	GRCh37	7	11014572	11014572	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC798T									Valid												ENST00000403050.3:c.112G>C	p.Asp38His	p.D38H	ENST00000403050	NM_014660.3	38	Gat/Cat	0	validated		possiblydamaging	
FIG4		inserm.fr	GRCh37	6	110146374	110146374	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC327T																					ENST00000230124.3:c.2630A>C	p.Gln877Pro	p.Q877P	ENST00000230124	NM_014845.5	877	cAa/cCa	0	validated		benign	
YIPF2		inserm.fr	GRCh37	19	11034070	11034070	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2128T																					ENST00000586748.1:c.848A>G	p.Gln283Arg	p.Q283R	ENST00000586748		283	cAg/cGg	0	not done		benign	
SEPT10		inserm.fr	GRCh37	2	110342811	110342811	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM791T																					ENST00000397712.2:c.305A>G	p.Asn102Ser	p.N102S	ENST00000397712	NM_144710.3	102	aAt/aGt	0	validated		benign	
SOWAHC		inserm.fr	GRCh37	2	110373533	110373533	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1539T																					ENST00000356454.3:c.1467G>C	p.Arg489Ser	p.R489S	ENST00000356454	NM_023016.3	489	agG/agC	0	validated		probablydamaging	
PKHD1L1		inserm.fr	GRCh37	8	110425729	110425729	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC121T																					ENST00000378402.5:c.2315G>C	p.Arg772Thr	p.R772T	ENST00000378402	NM_177531.4	772	aGa/aCa	0	validated		benign	
WASF1		inserm.fr	GRCh37	6	110428340	110428340	+	synonymous_variant	Silent	SNP	T	C	C			CHC1611T																					ENST00000392589.1:c.480A>G	p.Leu160=	p.L160=	ENST00000392589	NM_003931.2	160	ctA/ctG	0	not done		synonymous	
PKHD1L1		inserm.fr	GRCh37	8	110431361	110431361	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC306T																					ENST00000378402.5:c.2396T>C	p.Val799Ala	p.V799A	ENST00000378402	NM_177531.4	799	gTa/gCa	0	validated		benign	
WDR36		inserm.fr	GRCh37	5	110440020	110440020	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1747T																					ENST00000506538.2:c.1043T>C	p.Leu348Pro	p.L348P	ENST00000506538	NM_139281.2	348	cTt/cCt	0	not done		probablydamaging	
WDR36		inserm.fr	GRCh37	5	110445921	110445921	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2206T																					ENST00000506538.2:c.1528G>C	p.Val510Leu	p.V510L	ENST00000506538	NM_139281.2	510	Gta/Cta	0	not done		benign	
ARHGAP20		inserm.fr	GRCh37	11	110450118	110450118	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1152T																					ENST00000260283.4:c.3552C>G	p.Asp1184Glu	p.D1184E	ENST00000260283	NM_020809.3	1184	gaC/gaG	0	not done		probablydamaging	
PKHD1L1		inserm.fr	GRCh37	8	110454402	110454402	+	synonymous_variant	Silent	SNP	T	C	C			CHC805T																					ENST00000378402.5:c.4371T>C	p.Ser1457=	p.S1457=	ENST00000378402	NM_177531.4	1457	agT/agC	0	not done		synonymous	
PKHD1L1		inserm.fr	GRCh37	8	110476949	110476949	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1596T																					ENST00000378402.5:c.7888T>C	p.Tyr2630His	p.Y2630H	ENST00000378402	NM_177531.4	2630	Tat/Cat	0	validated		probablydamaging	
PKHD1L1		inserm.fr	GRCh37	8	110498937	110498937	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1775T																					ENST00000378402.5:c.9767T>C	p.Ile3256Thr	p.I3256T	ENST00000378402	NM_177531.4	3256	aTa/aCa	0	validated		probablydamaging	
ARHGAP20		inserm.fr	GRCh37	11	110582889	110582889	+	synonymous_variant	Silent	SNP	T	C	C			CHC1750T																					ENST00000260283.4:c.66A>G	p.Thr22=	p.T22=	ENST00000260283	NM_020809.3	22	acA/acG	0	not done		synonymous	
TAS2R13		inserm.fr	GRCh37	12	11061393	11061393	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM531T																					ENST00000390677.2:c.505A>G	p.Met169Val	p.M169V	ENST00000390677	NM_023920.2	169	Atg/Gtg	0	validated		benign	
UBL4B		inserm.fr	GRCh37	1	110655621	110655621	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1746T																					ENST00000334179.3:c.465G>C	p.Lys155Asn	p.K155N	ENST00000334179	NM_203412.1	155	aaG/aaC	0	not done		benign	
UBL4B		inserm.fr	GRCh37	1	110655679	110655679	+	stop_lost	Nonstop_Mutation	SNP	T	C	C			CHC2052T																					ENST00000334179.3:c.523T>C	p.Ter175GlnextTer22	p.*175Qext*22	ENST00000334179	NM_203412.1	175	Taa/Caa	0	not done			
SLC6A1		inserm.fr	GRCh37	3	11070520	11070520	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1756T																					ENST00000287766.4:c.1178G>C	p.Gly393Ala	p.G393A	ENST00000287766	NM_003042.3	393	gGc/gCc	0	not done		probablydamaging	
LRIT3		inserm.fr	GRCh37	4	110791097	110791097	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1629T																					ENST00000594814.1:c.1192T>C	p.Ser398Pro	p.S398P	ENST00000594814	NM_198506.4	398	Tct/Cct	0	not done		probablydamaging	
CAMK4		inserm.fr	GRCh37	5	110814106	110814106	+	synonymous_variant	Silent	SNP	T	C	C			CHC2098T																					ENST00000282356.4:c.729T>C	p.Asp243=	p.D243=	ENST00000282356	NM_001744.4	243	gaT/gaC	0	not done		synonymous	
STARD4		inserm.fr	GRCh37	5	110836790	110836790	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2127T																					ENST00000296632.3:c.307A>G	p.Thr103Ala	p.T103A	ENST00000296632	NM_139164.1	103	Act/Gct	0	not done		possiblydamaging	
ALG13		inserm.fr	GRCh37	X	110970102	110970102	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC799T																					ENST00000394780.3:c.1795T>C	p.Tyr599His	p.Y599H	ENST00000394780	NM_001257231.1	599	Tac/Cac	0	validated		probablydamaging	
MASP2		inserm.fr	GRCh37	1	11103430	11103430	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC361TA									Valid												ENST00000400897.3:c.707A>G	p.His236Arg	p.H236R	ENST00000400897	NM_006610.3	236	cAc/cGc	0	validated		probablydamaging	
ERVFRD-1		inserm.fr	GRCh37	6	11104053	11104053	+	synonymous_variant	Silent	SNP	G	C	C			BCM671T																					ENST00000472091.1:c.1491C>G	p.Leu497=	p.L497=	ENST00000472091	NM_207582.2	497	ctC/ctG	0	validated		synonymous	
IMMP2L		inserm.fr	GRCh37	7	111127396	111127396	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC1211T																					ENST00000405709.2:c.137C>G	p.Pro46Arg	p.P46R	ENST00000405709	NM_032549.3	46	cCt/cGt	0	not done		probablydamaging	
SRM		inserm.fr	GRCh37	1	11119302	11119302	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1715T																					ENST00000376957.2:c.268A>G	p.Ser90Gly	p.S90G	ENST00000376957	NM_003132.2	90	Agc/Ggc	0	not done		possiblydamaging	
BUB1		inserm.fr	GRCh37	2	111413408	111413408	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC805T																					ENST00000302759.6:c.1784A>G	p.Lys595Arg	p.K595R	ENST00000302759	NM_004336.4	595	aAg/aGg	0	not done		possiblydamaging	
BUB1		inserm.fr	GRCh37	2	111416283	111416283	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC917T																					ENST00000302759.6:c.1313T>G	p.Phe438Cys	p.F438C	ENST00000302759	NM_004336.4	438	tTt/tGt	0	validated		probablydamaging	
TAS2R20		inserm.fr	GRCh37	12	11150444	11150444	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB307T																					ENST00000538986.1:c.31A>G	p.Ile11Val	p.I11V	ENST00000538986	NM_176889.2	11	Att/Gtt	0	validated		benign	
ACOXL		inserm.fr	GRCh37	2	111551268	111551268	+	synonymous_variant	Silent	SNP	T	C	C			BCM567T																					ENST00000439055.1:c.201T>C	p.Asn67=	p.N67=	ENST00000439055	NM_001142807.1	67	aaT/aaC	0	validated		synonymous	
DOCK4		inserm.fr	GRCh37	7	111624413	111624413	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM325T																					ENST00000437633.1:c.497A>G	p.Glu166Gly	p.E166G	ENST00000437633	NM_014705.3	166	gAg/gGg	0	validated		probablydamaging	
XPNPEP1		inserm.fr	GRCh37	10	111667467	111667467	+	synonymous_variant	Silent	SNP	T	C	C			CHC302T																					ENST00000502935.1:c.228A>G	p.Pro76=	p.P76=	ENST00000502935		76	ccA/ccG	0	validated		synonymous	
DRAM2		inserm.fr	GRCh37	1	111674060	111674060	+	synonymous_variant	Silent	SNP	A	C	C			CHC902T																					ENST00000286692.4:c.117T>G	p.Ala39=	p.A39=	ENST00000286692		39	gcT/gcG	0	not done		synonymous	
REV3L		inserm.fr	GRCh37	6	111696224	111696224	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC451T																					ENST00000358835.3:c.3334T>G	p.Phe1112Val	p.F1112V	ENST00000358835		1112	Ttt/Gtt	0	validated		probablydamaging	
REV3L		inserm.fr	GRCh37	6	111696613	111696613	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2103T																					ENST00000358835.3:c.2945A>G	p.Asn982Ser	p.N982S	ENST00000358835		982	aAt/aGt	0	not done		probablydamaging	
MTOR		inserm.fr	GRCh37	1	11174395	11174395	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1749T																					ENST00000361445.4:c.7280T>G	p.Leu2427Arg	p.L2427R	ENST00000361445	NM_004958.3	2427	cTg/cGg	0	not done		probablydamaging	
TAS2R19		inserm.fr	GRCh37	12	11174630	11174630	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC805T																					ENST00000390673.2:c.541A>G	p.Thr181Ala	p.T181A	ENST00000390673	NM_176888.1	181	Act/Gct	0	not done		possiblydamaging	
CHI3L2		inserm.fr	GRCh37	1	111781441	111781441	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC304T									Valid												ENST00000445067.2:c.805T>C	p.Tyr269His	p.Y269H	ENST00000445067		269	Tat/Cat	0	validated		probablydamaging	
C11orf52		inserm.fr	GRCh37	11	111789723	111789723	+	synonymous_variant	Silent	SNP	A	C	C			BCB167T																					ENST00000278601.5:c.27A>C	p.Gly9=	p.G9=	ENST00000278601	NM_080659.2	9	ggA/ggC	0	validated		synonymous	
TAS2R31		inserm.fr	GRCh37	12	11183136	11183136	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1747T																					ENST00000390675.2:c.799A>G	p.Ile267Val	p.I267V	ENST00000390675	NM_176885.2	267	Att/Gtt	0	not done		benign	
C3orf52		inserm.fr	GRCh37	3	111835811	111835811	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1600T																					ENST00000431717.2:c.719T>C	p.Leu240Ser	p.L240S	ENST00000431717	NM_001171747.1	240	tTg/tCg	0	not done			
SH2B3		inserm.fr	GRCh37	12	111856474	111856474	+	synonymous_variant	Silent	SNP	G	C	C			CHC197T																					ENST00000341259.2:c.525G>C	p.Arg175=	p.R175=	ENST00000341259	NM_005475.2	175	cgG/cgC	0	validated		synonymous	
MTOR		inserm.fr	GRCh37	1	11188178	11188178	+	synonymous_variant	Silent	SNP	G	C	C			CHC1602T																					ENST00000361445.4:c.5916C>G	p.Leu1972=	p.L1972=	ENST00000361445	NM_004958.3	1972	ctC/ctG	0	not done		synonymous	
OVGP1		inserm.fr	GRCh37	1	111957190	111957190	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2216T																					ENST00000369732.3:c.1933A>G	p.Ile645Val	p.I645V	ENST00000369732	NM_002557.3	645	Atc/Gtc	0	not done		benign	
AMOT		inserm.fr	GRCh37	X	112053162	112053162	+	synonymous_variant	Silent	SNP	T	C	C			CHC1725T																					ENST00000371959.3:c.1590A>G	p.Ser530=	p.S530=	ENST00000371959	NM_001113490.1	530	tcA/tcG	0	not done		synonymous	
BRAP		inserm.fr	GRCh37	12	112120989	112120989	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1603T																					ENST00000419234.4:c.205A>G	p.Met69Val	p.M69V	ENST00000419234	NM_006768.3	69	Atg/Gtg	0	not done		probablydamaging	
PTPN3		inserm.fr	GRCh37	9	112144729	112144729	+	splice_acceptor_variant	Splice_Site	SNP	T	C	C			CHC2099T																					ENST00000374541.2:c.2383-2A>G		p.X795_splice	ENST00000374541	NM_001145368.1			0	not done		damaging	
ATG3		inserm.fr	GRCh37	3	112277227	112277227	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1148T																					ENST00000283290.5:c.110A>G	p.Glu37Gly	p.E37G	ENST00000283290	NM_022488.4	37	gAa/gGa	0	not done		probablydamaging	
CCDC80		inserm.fr	GRCh37	3	112358169	112358169	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1741T																					ENST00000206423.3:c.584A>G	p.Glu195Gly	p.E195G	ENST00000206423	NM_199512.1	195	gAg/gGg	0	not done		benign	
SMC3		inserm.fr	GRCh37	10	112361785	112361785	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM783T																					ENST00000361804.4:c.2954A>C	p.Lys985Thr	p.K985T	ENST00000361804	NM_005445.3	985	aAg/aCg	0	validated		probablydamaging	
TMEM168		inserm.fr	GRCh37	7	112424565	112424565	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC303T									Valid												ENST00000312814.6:c.316C>G	p.Leu106Val	p.L106V	ENST00000312814	NM_001287497.1	106	Cta/Gta	0	validated		probablydamaging	
ERP29		inserm.fr	GRCh37	12	112460406	112460406	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1774T																					ENST00000261735.3:c.736A>C	p.Asn246His	p.N246H	ENST00000261735	NM_006817.3	246	Aac/Cac	0	validated		probablydamaging	
NAA25		inserm.fr	GRCh37	12	112478353	112478353	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC798T																					ENST00000261745.4:c.2470T>G	p.Leu824Val	p.L824V	ENST00000261745	NM_024953.3	824	Tta/Gta	0	validated		benign	
NAA25		inserm.fr	GRCh37	12	112506775	112506775	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2351T																					ENST00000261745.4:c.1058T>G	p.Phe353Cys	p.F353C	ENST00000261745	NM_024953.3	353	tTc/tGc	0	not done		probablydamaging	
CD200R1		inserm.fr	GRCh37	3	112647706	112647706	+	synonymous_variant	Silent	SNP	G	C	C			BCM483T																					ENST00000308611.3:c.726C>G	p.Ser242=	p.S242=	ENST00000308611	NM_138806.3	242	tcC/tcG	0	validated		synonymous	
PDCD4		inserm.fr	GRCh37	10	112653944	112653944	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2115T																					ENST00000280154.7:c.1086G>C	p.Glu362Asp	p.E362D	ENST00000280154	NM_014456.4	362	gaG/gaC	0	not done		probablydamaging	
HECTD4		inserm.fr	GRCh37	12	112673576	112673576	+	synonymous_variant	Silent	SNP	A	C	C			CHC155T																					ENST00000550722.1:c.5019T>G	p.Gly1673=	p.G1673=	ENST00000550722	NM_001109662.3	1673	ggT/ggG	0	validated		synonymous	
TMEM87B		inserm.fr	GRCh37	2	112813190	112813190	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM791T																					ENST00000283206.4:c.22G>C	p.Val8Leu	p.V8L	ENST00000283206	NM_032824.2	8	Gta/Cta	0	validated		benign	
TAS2R30		inserm.fr	GRCh37	12	11286202	11286202	+	synonymous_variant	Silent	SNP	T	C	C			CHC736T																					ENST00000539585.1:c.642A>G	p.Lys214=	p.K214=	ENST00000539585	NM_001097643.1	214	aaA/aaG	0	validated		synonymous	
TAS2R30		inserm.fr	GRCh37	12	11286265	11286265	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1600T																					ENST00000539585.1:c.579A>G	p.Ile193Met	p.I193M	ENST00000539585	NM_001097643.1	193	atA/atG	0	not done		possiblydamaging	
YTHDC2		inserm.fr	GRCh37	5	112878076	112878076	+	synonymous_variant	Silent	SNP	T	C	C			CHC1597T																					ENST00000161863.4:c.1371T>C	p.Asp457=	p.D457=	ENST00000161863	NM_022828.3	457	gaT/gaC	0	not done		synonymous	
FBLN7		inserm.fr	GRCh37	2	112945048	112945048	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC896T																					ENST00000331203.2:c.1285A>C	p.Lys429Gln	p.K429Q	ENST00000331203	NM_001128165.1	429	Aag/Cag	0	not done		probablydamaging	
CSMD3		inserm.fr	GRCh37	8	113349936	113349936	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1715T																					ENST00000297405.5:c.6677A>G	p.Asp2226Gly	p.D2226G	ENST00000297405	NM_198123.1	2226	gAt/gGt	0	not done		probablydamaging	
KIAA2018		inserm.fr	GRCh37	3	113374842	113374842	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1741T																					ENST00000316407.4:c.5687C>G	p.Pro1896Arg	p.P1896R	ENST00000316407	NM_001009899.2	1896	cCt/cGt	0	not done		probablydamaging	
C4orf21		inserm.fr	GRCh37	4	113460839	113460839	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1185T																					ENST00000505019.1:c.6179A>G	p.Glu2060Gly	p.E2060G	ENST00000505019	NM_018392.4	2060	gAa/gGa	0	validated		benign	
C4orf21		inserm.fr	GRCh37	4	113482045	113482045	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC326T																					ENST00000505019.1:c.4804A>G	p.Thr1602Ala	p.T1602A	ENST00000505019	NM_018392.4	1602	Aca/Gca	0	validated		benign	
C19orf80		inserm.fr	GRCh37	19	11350957	11350957	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1741T																					ENST00000252453.8:c.444A>C	p.Glu148Asp	p.E148D	ENST00000252453	NM_018687.6	148	gaA/gaC	0	validated		possiblydamaging	
CSMD3		inserm.fr	GRCh37	8	113529282	113529282	+	synonymous_variant	Silent	SNP	G	C	C			CHC2110Tbis																					ENST00000297405.5:c.4737C>G	p.Pro1579=	p.P1579=	ENST00000297405	NM_198123.1	1579	ccC/ccG	0	not done		synonymous	
C4orf21		inserm.fr	GRCh37	4	113539734	113539734	+	synonymous_variant	Silent	SNP	T	C	C			CHC1053T																					ENST00000505019.1:c.1464A>G	p.Glu488=	p.E488=	ENST00000505019	NM_018392.4	488	gaA/gaG	0	validated		synonymous	
ZW10		inserm.fr	GRCh37	11	113629428	113629428	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC1763T																					ENST00000200135.3:c.581A>G	p.Asp194Gly	p.D194G	ENST00000200135	NM_004724.3	194	gAt/gGt	0	not done		damaging	
CLDN25		inserm.fr	GRCh37	11	113651160	113651160	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC303T																					ENST00000453129.2:c.643G>C	p.Asp215His	p.D215H	ENST00000453129	NM_001101389.1	215	Gat/Cat	0	validated		benign	
KCNN2		inserm.fr	GRCh37	5	113698936	113698936	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2052T																					ENST00000512097.3:c.464T>C	p.Leu155Pro	p.L155P	ENST00000512097		155	cTg/cCg	0	not done		probablydamaging	
PROZ		inserm.fr	GRCh37	13	113814359	113814359	+	synonymous_variant	Silent	SNP	T	C	C			CHC609T																					ENST00000342783.4:c.168T>C	p.Val56=	p.V56=	ENST00000342783	NM_001256134.1	56	gtT/gtC	0	validated		synonymous	
GPAM		inserm.fr	GRCh37	10	113915777	113915777	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1083T																					ENST00000348367.4:c.2156C>G	p.Thr719Ser	p.T719S	ENST00000348367		719	aCc/aGc	0	validated		benign	
GPAM		inserm.fr	GRCh37	10	113926185	113926185	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM325T																					ENST00000348367.4:c.1196A>G	p.Asp399Gly	p.D399G	ENST00000348367		399	gAt/gGt	0	validated		probablydamaging	
GPAM		inserm.fr	GRCh37	10	113932045	113932045	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC609T									Valid												ENST00000348367.4:c.689A>G	p.His230Arg	p.H230R	ENST00000348367		230	cAt/cGt	0	validated		probablydamaging	
CSMD3		inserm.fr	GRCh37	8	113988291	113988291	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM791T																					ENST00000297405.5:c.1117A>G	p.Thr373Ala	p.T373A	ENST00000297405	NM_198123.1	373	Aca/Gca	0	validated		benign	
PAX8		inserm.fr	GRCh37	2	113999185	113999185	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1061T									Valid												ENST00000429538.3:c.720T>G	p.Phe240Leu	p.F240L	ENST00000429538	NM_003466.3	240	ttT/ttG	0	validated		probablydamaging	
ZBTB20		inserm.fr	GRCh37	3	114069323	114069323	+	synonymous_variant	Silent	SNP	G	C	C			CHC2215T																					ENST00000474710.1:c.1602C>G	p.Gly534=	p.G534=	ENST00000474710	NM_001164342.1	534	ggC/ggG	0	not done		synonymous	
ANK2		inserm.fr	GRCh37	4	114232431	114232431	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC798T									Valid												ENST00000357077.4:c.2569G>C	p.Asp857His	p.D857H	ENST00000357077	NM_001148.4	857	Gat/Cat	0	validated		probablydamaging	
ANK2		inserm.fr	GRCh37	4	114238932	114238932	+	synonymous_variant	Silent	SNP	G	C	C			CHC2208T																					ENST00000357077.4:c.2763G>C	p.Val921=	p.V921=	ENST00000357077	NM_001148.4	921	gtG/gtC	0	not done		synonymous	
PHTF1		inserm.fr	GRCh37	1	114240991	114240991	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC433T									Valid												ENST00000369604.1:c.2161A>G	p.Arg721Gly	p.R721G	ENST00000369604		721	Aga/Gga	0	validated		probablydamaging	
PHTF1		inserm.fr	GRCh37	1	114256013	114256013	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1739T																					ENST00000369604.1:c.671A>G	p.Asn224Ser	p.N224S	ENST00000369604		224	aAt/aGt	0	not done		benign	
FOXP2		inserm.fr	GRCh37	7	114303506	114303506	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	C	C			CHC1180T																					ENST00000408937.3:c.1846A>C	p.Ser616Arg	p.S616R	ENST00000408937	NM_014491.3	616	Agt/Cgt	0	validated		damaging	
PTPN22		inserm.fr	GRCh37	1	114380986	114380986	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC304T																					ENST00000359785.5:c.1036A>G	p.Met346Val	p.M346V	ENST00000359785	NM_015967.5	346	Atg/Gtg	0	validated		benign	
AP4B1		inserm.fr	GRCh37	1	114443897	114443897	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC796T									Valid												ENST00000369569.1:c.578T>G	p.Val193Gly	p.V193G	ENST00000369569	NM_001253852.1	193	gTt/gGt	0	validated		probablydamaging	
LUZP4		inserm.fr	GRCh37	X	114541203	114541203	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1725T																					ENST00000371920.3:c.776T>C	p.Leu259Pro	p.L259P	ENST00000371920	NM_016383.3	259	cTc/cCc	0	not done		probablydamaging	
C9orf84		inserm.fr	GRCh37	9	114553658	114553658	+	5_prime_UTR_variant	5'UTR	SNP	T	C	C			CHC218T																					ENST00000374287.3:c.-152A>G		*51*	ENST00000374287				0	validated			
ACTR3		inserm.fr	GRCh37	2	114697674	114697674	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC307T																					ENST00000263238.2:c.679G>C	p.Val227Leu	p.V227L	ENST00000263238	NM_005721.4	227	Gta/Cta	0	validated		benign	
TBX5		inserm.fr	GRCh37	12	114803924	114803924	+	intron_variant	Intron	SNP	A	C	C			CHC327T																					ENST00000310346.4:c.982+46T>G		*328*	ENST00000310346	NM_000192.3			0	validated			
ARSJ		inserm.fr	GRCh37	4	114824304	114824304	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1746T																					ENST00000315366.7:c.926T>G	p.Leu309Trp	p.L309W	ENST00000315366	NM_024590.3	309	tTg/tGg	0	not done		benign	
TRIM33		inserm.fr	GRCh37	1	114969802	114969802	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T																					ENST00000358465.2:c.1417T>G	p.Leu473Val	p.L473V	ENST00000358465	NM_015906.3	473	Tta/Gta	0	validated		probablydamaging	
ROD1		inserm.fr	GRCh37	9	114997173	114997173	+	synonymous_variant	Silent	SNP	T	C	C			CHC798T																					ENST00000458258.1:c.909A>G	p.Ala303=	p.A303=	ENST00000458258	NM_001244898.1	303	gcA/gcG	0	validated		synonymous	
RGL3		inserm.fr	GRCh37	19	11510915	11510915	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC432T																					ENST00000393423.3:c.1543A>G	p.Ile515Val	p.I515V	ENST00000393423		515	Atc/Gtc	0	not done		probablydamaging	
TBX3		inserm.fr	GRCh37	12	115120658	115120658	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM375T									Valid												ENST00000257566.3:c.348T>G	p.Phe116Leu	p.F116L	ENST00000257566	NM_016569.3	116	ttT/ttG	0	validated		probablydamaging	
AMPD1		inserm.fr	GRCh37	1	115229500	115229500	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC433T																					ENST00000520113.2:c.346A>G	p.Asn116Asp	p.N116D	ENST00000520113		116	Aat/Gat	0	validated		benign	
NRAS		inserm.fr	GRCh37	1	115252220	115252220	+	synonymous_variant	Silent	SNP	T	C	C			CHC1629T																					ENST00000369535.4:c.420A>G	p.Pro140=	p.P140=	ENST00000369535	NM_002524.4	140	ccA/ccG	0	not done		synonymous	
NRAP		inserm.fr	GRCh37	10	115401201	115401201	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1091T																					ENST00000359988.3:c.1246A>G	p.Met416Val	p.M416V	ENST00000359988	NM_001261463.1	416	Atg/Gtg	0	validated		probablydamaging	
PRB2		inserm.fr	GRCh37	12	11546194	11546194	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC302T																					ENST00000389362.4:c.818A>G	p.Lys273Arg	p.K273R	ENST00000389362	NM_006248.3	273	aAa/aGa	0	validated		benign	
DCLRE1A		inserm.fr	GRCh37	10	115612658	115612658	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB325T																					ENST00000361384.2:c.284A>G	p.Glu95Gly	p.E95G	ENST00000361384	NM_014881.4	95	gAa/gGa	0	validated		probablydamaging	
NDST4		inserm.fr	GRCh37	4	115792017	115792017	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2128T																					ENST00000264363.2:c.1626C>G	p.Ser542Arg	p.S542R	ENST00000264363	NM_022569.1	542	agC/agG	0	not done		benign	
C10orf118		inserm.fr	GRCh37	10	115910930	115910930	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1207T																					ENST00000369287.3:c.809A>G	p.Asp270Gly	p.D270G	ENST00000369287	NM_018017.2	270	gAt/gGt	0	not done		possiblydamaging	
DNAH9		inserm.fr	GRCh37	17	11592887	11592887	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2034T																					ENST00000262442.4:c.3748G>C	p.Asp1250His	p.D1250H	ENST00000262442	NM_001372.3	1250	Gat/Cat	0	not done		probablydamaging	
NDST4		inserm.fr	GRCh37	4	115997283	115997283	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC909T																					ENST00000264363.2:c.910A>G	p.Ile304Val	p.I304V	ENST00000264363	NM_022569.1	304	Atc/Gtc	0	not done		benign	
AFAP1L2		inserm.fr	GRCh37	10	116059079	116059079	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC891T																					ENST00000304129.4:c.2053C>G	p.His685Asp	p.H685D	ENST00000304129	NM_001287824.1	685	Cac/Gac	0	not done		possiblydamaging	
MED13L		inserm.fr	GRCh37	12	116406902	116406902	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC1190T									Valid												ENST00000281928.3:c.6068A>G	p.Asp2023Gly	p.D2023G	ENST00000281928	NM_015335.4	2023	gAt/gGt	0	validated		probablydamaging	
NEIL2		inserm.fr	GRCh37	8	11643498	11643498	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1566T																					ENST00000284503.6:c.715T>C	p.Tyr239His	p.Y239H	ENST00000284503	NM_145043.2	239	Tac/Cac	0	not done		probablydamaging	
DPP10		inserm.fr	GRCh37	2	116485493	116485493	+	synonymous_variant	Silent	SNP	T	C	C			BCM735T																					ENST00000393147.2:c.690T>C	p.Ile230=	p.I230=	ENST00000393147	NM_001178034.1	230	atT/atC	0	validated		synonymous	
MED13L		inserm.fr	GRCh37	12	116549311	116549311	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000281928.3:c.317A>G	p.Glu106Gly	p.E106G	ENST00000281928	NM_015335.4	106	gAa/gGa	0	not done		probablydamaging	
TSPYL4		inserm.fr	GRCh37	6	116574086	116574086	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1534T																					ENST00000420283.1:c.1086C>G	p.Ser362Arg	p.S362R	ENST00000420283	NM_021648.4	362	agC/agG	0	validated		possiblydamaging	
TSPYL4		inserm.fr	GRCh37	6	116574456	116574456	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1089T																					ENST00000420283.1:c.716A>G	p.His239Arg	p.H239R	ENST00000420283	NM_021648.4	239	cAc/cGc	0	validated		probablydamaging	
DPP10		inserm.fr	GRCh37	2	116598368	116598368	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC051T									Valid												ENST00000393147.2:c.2237T>C	p.Leu746Pro	p.L746P	ENST00000393147	NM_001178034.1	746	cTa/cCa	0	validated		probablydamaging	
APOA5		inserm.fr	GRCh37	11	116661046	116661046	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM439T																					ENST00000542499.1:c.899C>G	p.Thr300Ser	p.T300S	ENST00000542499	NM_001166598.1	300	aCt/aGt	0	validated		probablydamaging	
SIK3		inserm.fr	GRCh37	11	116744237	116744237	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1035T									Valid												ENST00000292055.4:c.1523A>G	p.Lys508Arg	p.K508R	ENST00000292055	NM_025164.3	508	aAg/aGg	0	validated		probablydamaging	
AMBP		inserm.fr	GRCh37	9	116823811	116823811	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM543T																					ENST00000265132.3:c.746A>G	p.Tyr249Cys	p.Y249C	ENST00000265132	NM_001633.3	249	tAt/tGt	0	validated		probablydamaging	
ATP1A1		inserm.fr	GRCh37	1	116942079	116942079	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1044T																					ENST00000537345.1:c.2486G>C	p.Ser829Thr	p.S829T	ENST00000537345	NM_001160233.1	829	aGt/aCt	0	not done		benign	
FAM162B		inserm.fr	GRCh37	6	117086658	117086658	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2213T																					ENST00000368557.4:c.82A>G	p.Thr28Ala	p.T28A	ENST00000368557	NM_001085480.2	28	Acg/Gcg	0	validated		benign	
FBXO2		inserm.fr	GRCh37	1	11710788	11710788	+	synonymous_variant	Silent	SNP	G	C	C			CHC1154T																					ENST00000354287.4:c.126C>G	p.Ala42=	p.A42=	ENST00000354287	NM_012168.5	42	gcC/gcG	0	validated		synonymous	
IGSF3		inserm.fr	GRCh37	1	117120098	117120098	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC465T																					ENST00000369483.1:c.3481A>G	p.Ile1161Val	p.I1161V	ENST00000369483	NM_001542.3	1161	Atc/Gtc	0	validated		benign	
RNF214		inserm.fr	GRCh37	11	117153499	117153499	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1207T																					ENST00000531452.1:c.1883T>C	p.Leu628Pro	p.L628P	ENST00000531452	NM_001077239.1	628	cTg/cCg	0	not done		probablydamaging	
RNFT2		inserm.fr	GRCh37	12	117188010	117188010	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCB111T									Valid												ENST00000257575.4:c.448G>C	p.Ala150Pro	p.A150P	ENST00000257575		150	Gcc/Ccc	0	validated		probablydamaging	
FBXO21		inserm.fr	GRCh37	12	117593745	117593745	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1137T																					ENST00000330622.5:c.1547A>G	p.Tyr516Cys	p.Y516C	ENST00000330622		516	tAt/tGt	0	validated		probablydamaging	
ROS1		inserm.fr	GRCh37	6	117650496	117650496	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1742T																					ENST00000368508.3:c.5362A>G	p.Ile1788Val	p.I1788V	ENST00000368508	NM_002944.2	1788	Ata/Gta	0	not done		benign	
TMPRSS13		inserm.fr	GRCh37	11	117789482	117789482	+	synonymous_variant	Silent	SNP	T	C	C			CHC1756T																					ENST00000524993.1:c.93A>G	p.Pro31=	p.P31=	ENST00000524993	NM_001077263.2	31	ccA/ccG	0	validated		synonymous	
FAM132A		inserm.fr	GRCh37	1	1178009	1178009	+	synonymous_variant	Silent	SNP	A	C	C			CHC1154T																					ENST00000330388.2:c.828T>G	p.Ser276=	p.S276=	ENST00000330388	NM_001014980.2	276	tcT/tcG	0	not done		synonymous	
TNC		inserm.fr	GRCh37	9	117849231	117849231	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM325T																					ENST00000350763.4:c.779A>G	p.His260Arg	p.H260R	ENST00000350763	NM_002160.3	260	cAc/cGc	0	validated		probablydamaging	
SLC30A8		inserm.fr	GRCh37	8	118174050	118174050	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC736T									Valid												ENST00000456015.2:c.646G>C	p.Ala216Pro	p.A216P	ENST00000456015	NM_173851.2	216	Gct/Cct	0	validated		probablydamaging	
KIAA1210		inserm.fr	GRCh37	X	118223323	118223323	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1591T																					ENST00000402510.2:c.1870A>G	p.Ile624Val	p.I624V	ENST00000402510	NM_020721.1	624	Ata/Gta	0	not done		benign	
PNLIP		inserm.fr	GRCh37	10	118320025	118320025	+	synonymous_variant	Silent	SNP	T	C	C			CHC1739T																					ENST00000369221.2:c.1158T>C	p.Tyr386=	p.Y386=	ENST00000369221	NM_000936.2	386	taT/taC	0	not done		synonymous	
DNAH9		inserm.fr	GRCh37	17	11835519	11835519	+	synonymous_variant	Silent	SNP	A	C	C			CHC1741T																					ENST00000262442.4:c.12294A>C	p.Ala4098=	p.A4098=	ENST00000262442	NM_001372.3	4098	gcA/gcC	0	not done		synonymous	
PNLIPRP1		inserm.fr	GRCh37	10	118355760	118355760	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2034T																					ENST00000528052.1:c.500T>C	p.Leu167Pro	p.L167P	ENST00000528052		167	cTc/cCc	0	not done		probablydamaging	
DNAH9		inserm.fr	GRCh37	17	11837360	11837360	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC909T																					ENST00000262442.4:c.12461G>C	p.Gly4154Ala	p.G4154A	ENST00000262442	NM_001372.3	4154	gGc/gCc	0	not done		probablydamaging	
GDAP2		inserm.fr	GRCh37	1	118420759	118420759	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1191T																					ENST00000369443.5:c.1318T>G	p.Phe440Val	p.F440V	ENST00000369443	NM_017686.3	440	Ttt/Gtt	0	not done		probablydamaging	
HSPA12A		inserm.fr	GRCh37	10	118434478	118434478	+	synonymous_variant	Silent	SNP	A	C	C			CHC2216T																					ENST00000369209.3:c.1842T>G	p.Thr614=	p.T614=	ENST00000369209	NM_025015.2	614	acT/acG	0	validated		synonymous	
GDAP2		inserm.fr	GRCh37	1	118449131	118449131	+	synonymous_variant	Silent	SNP	T	C	C			CHC320T																					ENST00000369443.5:c.633A>G	p.Glu211=	p.E211=	ENST00000369443	NM_017686.3	211	gaA/gaG	0	validated		synonymous	
PHLDB1		inserm.fr	GRCh37	11	118498522	118498522	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1035T									Valid												ENST00000361417.2:c.983G>C	p.Arg328Pro	p.R328P	ENST00000361417	NM_015157.3	328	cGg/cCg	0	validated		probablydamaging	
PHLDB1		inserm.fr	GRCh37	11	118509967	118509967	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			BCM397T																					ENST00000361417.2:c.2734G>C	p.Glu912Gln	p.E912Q	ENST00000361417	NM_015157.3	912	Gag/Cag	0	validated		probablydamaging	
DDX6		inserm.fr	GRCh37	11	118656960	118656960	+	start_lost	Translation_Start_Site	SNP	T	C	C			CHC1148T																					ENST00000264018.4:c.1A>G	p.Met1?	p.M1?	ENST00000264018	NM_004397.4	1	Atg/Gtg	0	not done		probablydamaging	
CXCR5		inserm.fr	GRCh37	11	118765251	118765251	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM325T																					ENST00000292174.4:c.998T>C	p.Leu333Pro	p.L333P	ENST00000292174	NM_001716.4	333	cTg/cCg	0	validated		probablydamaging	
BCL9L		inserm.fr	GRCh37	11	118779269	118779269	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC313T																					ENST00000334801.3:c.122A>G	p.Glu41Gly	p.E41G	ENST00000334801	NM_182557.2	41	gAa/gGa	0	validated		possiblydamaging	
CEP85L		inserm.fr	GRCh37	6	118786631	118786631	+	synonymous_variant	Silent	SNP	T	C	C			BCM783T																					ENST00000368488.5:c.2364A>G	p.Glu788=	p.E788=	ENST00000368488	NM_001178035.1	788	gaA/gaG	0	validated		synonymous	
CEP85L		inserm.fr	GRCh37	6	118803076	118803076	+	synonymous_variant	Silent	SNP	T	C	C			CHC1154T																					ENST00000368488.5:c.1620A>G	p.Lys540=	p.K540=	ENST00000368488	NM_001178035.1	540	aaA/aaG	0	not done		synonymous	
C3orf30		inserm.fr	GRCh37	3	118866090	118866090	+	synonymous_variant	Silent	SNP	A	C	C			CHC097T																					ENST00000295622.1:c.1054A>C	p.Arg352=	p.R352=	ENST00000295622	NM_152539.2	352	Aga/Cga	0	not done		synonymous	
CCDC84		inserm.fr	GRCh37	11	118882651	118882651	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	C	C			CHC917T																					ENST00000334418.1:c.516T>C	p.Pro172=	p.P172=	ENST00000334418	NM_198489.1	172	ccT/ccC	0	validated		synonymous	
SOWAHD		inserm.fr	GRCh37	X	118893368	118893368	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2111T																					ENST00000343905.3:c.738G>C	p.Glu246Asp	p.E246D	ENST00000343905	NM_001105576.2	246	gaG/gaC	0	not done		probablydamaging	
SLC37A4		inserm.fr	GRCh37	11	118895668	118895668	+	synonymous_variant	Silent	SNP	T	C	C			BCM683T																					ENST00000357590.5:c.1308A>G	p.Leu436=	p.L436=	ENST00000357590	NM_001164278.1	436	ctA/ctG	0	validated		synonymous	
SLC37A4		inserm.fr	GRCh37	11	118898442	118898442	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	C	C			BCM375T																					ENST00000357590.5:c.522A>G	p.Ala174=	p.A174=	ENST00000357590	NM_001164278.1	174	gcA/gcG	0	validated		synonymous	
ZNF18		inserm.fr	GRCh37	17	11894341	11894341	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1700T																					ENST00000322748.3:c.527A>G	p.Glu176Gly	p.E176G	ENST00000322748	NM_144680.2	176	gAg/gGg	0	not done		probablydamaging	
PDZD3		inserm.fr	GRCh37	11	119057229	119057229	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1611T																					ENST00000355547.5:c.160A>C	p.Lys54Gln	p.K54Q	ENST00000355547	NM_001168468.1	54	Aaa/Caa	0	not done		probablydamaging	
ARHGAP31		inserm.fr	GRCh37	3	119102069	119102069	+	synonymous_variant	Silent	SNP	T	C	C			CHC879T																					ENST00000264245.4:c.678T>C	p.Asn226=	p.N226=	ENST00000264245	NM_020754.2	226	aaT/aaC	0	not done		synonymous	
ARHGAP31		inserm.fr	GRCh37	3	119133767	119133767	+	synonymous_variant	Silent	SNP	T	C	C			CHC1052T																					ENST00000264245.4:c.2991T>C	p.Thr997=	p.T997=	ENST00000264245	NM_020754.2	997	acT/acC	0	validated		synonymous	
ZNF491		inserm.fr	GRCh37	19	11917194	11917194	+	synonymous_variant	Silent	SNP	T	C	C			CHC1741T																					ENST00000323169.5:c.426T>C	p.Cys142=	p.C142=	ENST00000323169	NM_152356.3	142	tgT/tgC	0	not done		synonymous	
MCAM		inserm.fr	GRCh37	11	119185909	119185909	+	synonymous_variant	Silent	SNP	G	C	C			BCB167T																					ENST00000264036.4:c.132C>G	p.Ala44=	p.A44=	ENST00000264036	NM_006500.2	44	gcC/gcG	0	validated		synonymous	
FAM184A		inserm.fr	GRCh37	6	119337968	119337968	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1035T																					ENST00000338891.7:c.1474A>G	p.Met492Val	p.M492V	ENST00000338891	NM_024581.4	492	Atg/Gtg	0	validated		benign	
NR1I2		inserm.fr	GRCh37	3	119530487	119530487	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1568T																					ENST00000337940.4:c.550G>C	p.Glu184Gln	p.E184Q	ENST00000337940	NM_022002.2	184	Gag/Cag	0	not done		benign	
CCDC60		inserm.fr	GRCh37	12	119960798	119960798	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2128T																					ENST00000327554.2:c.1095G>C	p.Lys365Asn	p.K365N	ENST00000327554	NM_178499.3	365	aaG/aaC	0	not done		probablydamaging	
COLEC10		inserm.fr	GRCh37	8	120118289	120118289	+	synonymous_variant	Silent	SNP	T	C	C			CHC304T																					ENST00000332843.2:c.693T>C	p.Tyr231=	p.Y231=	ENST00000332843	NM_006438.3	231	taT/taC	0	validated		synonymous	
CIT		inserm.fr	GRCh37	12	120198844	120198844	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2052T																					ENST00000392521.2:c.2320A>G	p.Ile774Val	p.I774V	ENST00000392521	NM_001206999.1	774	Ata/Gta	0	not done		benign	
HMGCS2		inserm.fr	GRCh37	1	120300010	120300010	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2098T																					ENST00000369406.3:c.902A>G	p.His301Arg	p.H301R	ENST00000369406	NM_005518.3	301	cAt/cGt	0	not done		probablydamaging	
HMGCS2		inserm.fr	GRCh37	1	120306801	120306801	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1717T									Valid												ENST00000369406.3:c.553T>G	p.Trp185Gly	p.W185G	ENST00000369406	NM_005518.3	185	Tgg/Ggg	0	validated		probablydamaging	
TLR4		inserm.fr	GRCh37	9	120476550	120476550	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1028T																					ENST00000355622.6:c.2144G>C	p.Gly715Ala	p.G715A	ENST00000355622	NM_138557.2	715	gGt/gCt	0	not done		probablydamaging	
NOTCH2		inserm.fr	GRCh37	1	120512160	120512160	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2216T																					ENST00000256646.2:c.1082C>G	p.Ser361Cys	p.S361C	ENST00000256646	NM_024408.3	361	tCt/tGt	0	not done		benign	
NOTCH2		inserm.fr	GRCh37	1	120539757	120539757	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1053T									Valid												ENST00000256646.2:c.614A>G	p.Tyr205Cys	p.Y205C	ENST00000256646	NM_024408.3	205	tAc/tGc	0	validated		probablydamaging	
GCN1L1		inserm.fr	GRCh37	12	120628126	120628126	+	synonymous_variant	Silent	SNP	T	C	C			BCM321T																					ENST00000300648.6:c.96A>G	p.Glu32=	p.E32=	ENST00000300648	NM_006836.1	32	gaA/gaG	0	validated		synonymous	
DSCC1		inserm.fr	GRCh37	8	120867911	120867911	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2034T																					ENST00000313655.4:c.125A>G	p.Asp42Gly	p.D42G	ENST00000313655	NM_024094.2	42	gAc/gGc	0	not done		probablydamaging	
WNT16		inserm.fr	GRCh37	7	120969703	120969703	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1137T																					ENST00000222462.2:c.178T>C	p.Cys60Arg	p.C60R	ENST00000222462	NM_057168.1	60	Tgc/Cgc	0	validated		probablydamaging	
WNT16		inserm.fr	GRCh37	7	120971816	120971816	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1750T																					ENST00000222462.2:c.431T>C	p.Met144Thr	p.M144T	ENST00000222462	NM_057168.1	144	aTg/aCg	0	not done		possiblydamaging	
MLEC		inserm.fr	GRCh37	12	121131892	121131892	+	splice_acceptor_variant	Splice_Site	SNP	A	C	C			CHC794T									Valid												ENST00000228506.3:c.236-2A>C		p.X79_splice	ENST00000228506	NM_014730.2			0	validated		damaging	
FTMT		inserm.fr	GRCh37	5	121187747	121187747	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1065T																					ENST00000321339.1:c.89T>C	p.Leu30Pro	p.L30P	ENST00000321339	NM_177478.1	30	cTg/cCg	0	validated		benign	
POLQ		inserm.fr	GRCh37	3	121208075	121208075	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1041T																					ENST00000264233.5:c.3703A>G	p.Ile1235Val	p.I1235V	ENST00000264233	NM_199420.3	1235	Atc/Gtc	0	validated		benign	
SORL1		inserm.fr	GRCh37	11	121340774	121340774	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM269T									Valid												ENST00000260197.7:c.344A>C	p.Asn115Thr	p.N115T	ENST00000260197	NM_003105.5	115	aAc/aCc	0	validated		possiblydamaging	
SORL1		inserm.fr	GRCh37	11	121348860	121348860	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC889T																					ENST00000260197.7:c.436A>C	p.Lys146Gln	p.K146Q	ENST00000260197	NM_003105.5	146	Aag/Cag	0	not done		benign	
GOLGB1		inserm.fr	GRCh37	3	121411263	121411263	+	synonymous_variant	Silent	SNP	T	C	C			CHC805T																					ENST00000393667.3:c.6948A>G	p.Glu2316=	p.E2316=	ENST00000393667	NM_001256486.1	2316	gaA/gaG	0	not done		synonymous	
GOLGB1		inserm.fr	GRCh37	3	121421395	121421395	+	synonymous_variant	Silent	SNP	T	C	C			CHC1725T																					ENST00000393667.3:c.1452A>G	p.Glu484=	p.E484=	ENST00000393667	NM_001256486.1	484	gaA/gaG	0	not done		synonymous	
HNF1A		inserm.fr	GRCh37	12	121431386	121431386	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1626T																					ENST00000257555.6:c.590A>C	p.Lys197Thr	p.K197T	ENST00000257555		197	aAg/aCg	0	not done		probablydamaging	
HNF1A		inserm.fr	GRCh37	12	121431410	121431410	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1626T																					ENST00000257555.6:c.614A>C	p.Lys205Thr	p.K205T	ENST00000257555		205	aAg/aCg	0	not done		possiblydamaging	
OASL		inserm.fr	GRCh37	12	121465436	121465436	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1154T																					ENST00000257570.5:c.842A>G	p.Tyr281Cys	p.Y281C	ENST00000257570	NM_003733.3	281	tAc/tGc	0	not done		probablydamaging	
MTBP		inserm.fr	GRCh37	8	121475963	121475963	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCB325T																					ENST00000305949.1:c.1009G>C	p.Val337Leu	p.V337L	ENST00000305949	NM_022045.4	337	Gtg/Ctg	0	validated		benign	
INPP5F		inserm.fr	GRCh37	10	121586495	121586495	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM567T																					ENST00000361976.2:c.2602A>C	p.Lys868Gln	p.K868Q	ENST00000361976	NM_014937.3	868	Aag/Cag	0	validated		benign	
PRDM5		inserm.fr	GRCh37	4	121616382	121616382	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM399T																					ENST00000264808.3:c.1777A>G	p.Met593Val	p.M593V	ENST00000264808	NM_018699.2	593	Atg/Gtg	0	validated		probablydamaging	
SNCAIP		inserm.fr	GRCh37	5	121786429	121786429	+	synonymous_variant	Silent	SNP	A	C	C			CHC1708T																					ENST00000261368.8:c.1887A>C	p.Ser629=	p.S629=	ENST00000261368	NM_005460.2	629	tcA/tcC	0	not done		synonymous	
CD86		inserm.fr	GRCh37	3	121825175	121825175	+	synonymous_variant	Silent	SNP	T	C	C			BCM397T																					ENST00000330540.2:c.531T>C	p.Asn177=	p.N177=	ENST00000330540	NM_175862.4	177	aaT/aaC	0	validated		synonymous	
CASR		inserm.fr	GRCh37	3	121980690	121980690	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC917T																					ENST00000498619.1:c.808T>C	p.Phe270Leu	p.F270L	ENST00000498619	NM_001178065.1	270	Ttc/Ctc	0	validated		possiblydamaging	
CCDC58		inserm.fr	GRCh37	3	122102028	122102028	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM543T																					ENST00000291458.5:c.44A>G	p.Glu15Gly	p.E15G	ENST00000291458	NM_001017928.2	15	gAg/gGg	0	validated		benign	
SETD1B		inserm.fr	GRCh37	12	122247862	122247862	+	synonymous_variant	Silent	SNP	T	C	C			CHC1738T																					ENST00000267197.5:c.1011T>C	p.Thr337=	p.T337=	ENST00000267197	NM_015048.1	337	acT/acC	0	not done		synonymous	
HPD		inserm.fr	GRCh37	12	122277841	122277841	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM337T																					ENST00000289004.4:c.1068C>G	p.His356Gln	p.H356Q	ENST00000289004	NM_002150.2	356	caC/caG	0	validated		probablydamaging	
HPD		inserm.fr	GRCh37	12	122284995	122284995	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1745T																					ENST00000289004.4:c.722A>G	p.Asn241Ser	p.N241S	ENST00000289004	NM_002150.2	241	aAt/aGt	0	not done		probablydamaging	
HPD		inserm.fr	GRCh37	12	122284995	122284995	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1611T																					ENST00000289004.4:c.722A>G	p.Asn241Ser	p.N241S	ENST00000289004	NM_002150.2	241	aAt/aGt	0	not done		probablydamaging	
RNF133		inserm.fr	GRCh37	7	122338964	122338964	+	synonymous_variant	Silent	SNP	T	C	C			CHC1603T																					ENST00000340112.2:c.9A>G	p.Leu3=	p.L3=	ENST00000340112	NM_139175.1	3	ctA/ctG	0	not done		synonymous	
CLASP1		inserm.fr	GRCh37	2	122363329	122363329	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1531T																					ENST00000263710.4:c.143A>G	p.Asp48Gly	p.D48G	ENST00000263710	NM_015282.2	48	gAt/gGt	0	not done		probablydamaging	
GRIA3		inserm.fr	GRCh37	X	122387228	122387228	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC361TA									Valid												ENST00000264357.5:c.343T>C	p.Ser115Pro	p.S115P	ENST00000264357	NM_000828.4	115	Tcc/Ccc	0	validated		probablydamaging	
WDR66		inserm.fr	GRCh37	12	122395042	122395042	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1065T									Valid												ENST00000288912.4:c.1598T>C	p.Val533Ala	p.V533A	ENST00000288912	NM_144668.5	533	gTt/gCt	0	validated		benign	
MICAL2		inserm.fr	GRCh37	11	12244220	12244220	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2351T																					ENST00000256194.4:c.1379T>C	p.Phe460Ser	p.F460S	ENST00000256194	NM_014632.2	460	tTt/tCt	0	not done		probablydamaging	
GRIA3		inserm.fr	GRCh37	X	122551303	122551303	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T																					ENST00000264357.5:c.1551A>C	p.Glu517Asp	p.E517D	ENST00000264357	NM_000828.4	517	gaA/gaC	0	validated		probablydamaging	
WDR11		inserm.fr	GRCh37	10	122622403	122622403	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC469T									Valid												ENST00000263461.6:c.683T>C	p.Val228Ala	p.V228A	ENST00000263461	NM_018117.11	228	gTa/gCa	0	validated		probablydamaging	
WDR11		inserm.fr	GRCh37	10	122624681	122624681	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2112T																					ENST00000263461.6:c.836T>C	p.Val279Ala	p.V279A	ENST00000263461	NM_018117.11	279	gTg/gCg	0	not done		probablydamaging	
WDR11		inserm.fr	GRCh37	10	122664909	122664909	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1750T																					ENST00000263461.6:c.3272G>C	p.Arg1091Pro	p.R1091P	ENST00000263461	NM_018117.11	1091	cGg/cCg	0	not done		probablydamaging	
CEP120		inserm.fr	GRCh37	5	122682286	122682286	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1185T																					ENST00000306467.5:c.2888A>G	p.His963Arg	p.H963R	ENST00000306467		963	cAc/cGc	0	not done		possiblydamaging	
DIABLO		inserm.fr	GRCh37	12	122709181	122709181	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2103T																					ENST00000443649.3:c.61T>G	p.Cys21Gly	p.C21G	ENST00000443649	NM_019887.5	21	Tgt/Ggt	0	not done		benign	
LRP6		inserm.fr	GRCh37	12	12274343	12274343	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2216T									Valid												ENST00000261349.4:c.4559A>G	p.Tyr1520Cys	p.Y1520C	ENST00000261349	NM_002336.2	1520	tAt/tGt	0	validated		probablydamaging	
C11orf63		inserm.fr	GRCh37	11	122756665	122756665	+	synonymous_variant	Silent	SNP	T	C	C			BCM723T																					ENST00000227349.2:c.108T>C	p.His36=	p.H36=	ENST00000227349	NM_024806.3	36	caT/caC	0	validated		synonymous	
SERINC1		inserm.fr	GRCh37	6	122777713	122777713	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2362T																					ENST00000339697.4:c.284T>G	p.Phe95Cys	p.F95C	ENST00000339697	NM_020755.2	95	tTt/tGt	0	validated		probablydamaging	
SERINC1		inserm.fr	GRCh37	6	122779710	122779710	+	synonymous_variant	Silent	SNP	T	C	C			BCM371T																					ENST00000339697.4:c.156A>G	p.Val52=	p.V52=	ENST00000339697	NM_020755.2	52	gtA/gtG	0	validated		synonymous	
CLIP1		inserm.fr	GRCh37	12	122812841	122812841	+	synonymous_variant	Silent	SNP	T	C	C			CHC1081T																					ENST00000540338.1:c.3000A>G	p.Glu1000=	p.E1000=	ENST00000540338		1000	gaA/gaG	0	validated		synonymous	
TRPC3		inserm.fr	GRCh37	4	122836015	122836015	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1083T																					ENST00000379645.3:c.1261A>G	p.Ile421Val	p.I421V	ENST00000379645	NM_001130698.1	421	Atc/Gtc	0	validated		benign	
SLC13A1		inserm.fr	GRCh37	7	122839988	122839988	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM735T																					ENST00000194130.2:c.13A>G	p.Ser5Gly	p.S5G	ENST00000194130	NM_022444.3	5	Agt/Ggt	0	validated		benign	
HSPA8		inserm.fr	GRCh37	11	122931444	122931444	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T																					ENST00000534624.1:c.268T>G	p.Trp90Gly	p.W90G	ENST00000534624	NM_006597.5	90	Tgg/Ggg	0	validated		probablydamaging	
KNTC1		inserm.fr	GRCh37	12	123054297	123054297	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM337T																					ENST00000333479.7:c.1786T>C	p.Ser596Pro	p.S596P	ENST00000333479	NM_014708.4	596	Tct/Cct	0	validated		benign	
KNTC1		inserm.fr	GRCh37	12	123075241	123075241	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM375T																					ENST00000333479.7:c.4087A>C	p.Lys1363Gln	p.K1363Q	ENST00000333479	NM_014708.4	1363	Aag/Cag	0	validated		benign	
ACAP3		inserm.fr	GRCh37	1	1231604	1231604	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC197T									Valid												ENST00000354700.5:c.1394C>G	p.Pro465Arg	p.P465R	ENST00000354700	NM_030649.2	465	cCt/cGt	0	validated		probablydamaging	
BLTP1		inserm.fr	GRCh37	4	123185494	123185494	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1756T																					ENST00000264501.4:c.7229A>C	p.His2410Pro	p.H2410P	ENST00000264501		2410	cAt/cCt	0	not done		probablydamaging	
BLTP1		inserm.fr	GRCh37	4	123188092	123188092	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1061T									Valid												ENST00000264501.4:c.7472G>C	p.Arg2491Thr	p.R2491T	ENST00000264501		2491	aGa/aCa	0	validated		probablydamaging	
BLTP1		inserm.fr	GRCh37	4	123270425	123270425	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC218T																					ENST00000264501.4:c.13393G>C	p.Gly4465Arg	p.G4465R	ENST00000264501		4465	Gga/Cga	0	validated		probablydamaging	
FGFR2		inserm.fr	GRCh37	10	123274671	123274671	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2321T																					ENST00000358487.5:c.1247A>G	p.His416Arg	p.H416R	ENST00000358487	NM_000141.4	416	cAc/cGc	0	validated		benign	
MYLK		inserm.fr	GRCh37	3	123367860	123367860	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1629T																					ENST00000360304.3:c.4373A>G	p.Gln1458Arg	p.Q1458R	ENST00000360304	NM_053025.3	1458	cAa/cGa	0	validated		probablydamaging	
ACAP3		inserm.fr	GRCh37	1	1233982	1233982	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1717T									Valid												ENST00000354700.5:c.828C>G	p.Phe276Leu	p.F276L	ENST00000354700	NM_030649.2	276	ttC/ttG	0	validated		probablydamaging	
ABCB9		inserm.fr	GRCh37	12	123435089	123435089	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM269T									Valid												ENST00000542678.1:c.625A>G	p.Thr209Ala	p.T209A	ENST00000542678		209	Acg/Gcg	0	validated		probablydamaging	
MYLK		inserm.fr	GRCh37	3	123440982	123440982	+	synonymous_variant	Silent	SNP	G	C	C			CHC1545T																					ENST00000360304.3:c.1797C>G	p.Thr599=	p.T599=	ENST00000360304	NM_053025.3	599	acC/acG	0	not done		synonymous	
HYAL4		inserm.fr	GRCh37	7	123508401	123508401	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC429T																					ENST00000223026.4:c.74T>C	p.Ile25Thr	p.I25T	ENST00000223026	NM_012269.2	25	aTa/aCa	0	validated		benign	
HYAL4		inserm.fr	GRCh37	7	123516888	123516888	+	synonymous_variant	Silent	SNP	A	C	C			CHC1148T																					ENST00000223026.4:c.1125A>C	p.Val375=	p.V375=	ENST00000223026	NM_012269.2	375	gtA/gtC	0	not done		synonymous	
SPAM1		inserm.fr	GRCh37	7	123594068	123594068	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC912T									Valid												ENST00000340011.5:c.444A>C	p.Glu148Asp	p.E148D	ENST00000340011	NM_003117.4	148	gaA/gaC	0	validated		possiblydamaging	
ATE1		inserm.fr	GRCh37	10	123600602	123600602	+	synonymous_variant	Silent	SNP	T	C	C			BCB167T																					ENST00000369043.3:c.1152A>G	p.Ala384=	p.A384=	ENST00000369043	NM_007041.2	384	gcA/gcG	0	validated		synonymous	
PHF19		inserm.fr	GRCh37	9	123631484	123631484	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1731T																					ENST00000373896.3:c.590A>G	p.Tyr197Cys	p.Y197C	ENST00000373896	NM_015651.1	197	tAc/tGc	0	not done		probablydamaging	
MPHOSPH9		inserm.fr	GRCh37	12	123661268	123661268	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC320T																					ENST00000392425.3:c.1967A>G	p.Asn656Ser	p.N656S	ENST00000392425		656	aAt/aGt	0	validated		benign	
ATE1		inserm.fr	GRCh37	10	123673333	123673333	+	synonymous_variant	Silent	SNP	T	C	C			CHC218T																					ENST00000369043.3:c.309A>G	p.Lys103=	p.K103=	ENST00000369043	NM_007041.2	103	aaA/aaG	0	not done		synonymous	
TACC2		inserm.fr	GRCh37	10	123844400	123844400	+	synonymous_variant	Silent	SNP	A	C	C			BCM275T																					ENST00000369005.1:c.2385A>C	p.Ala795=	p.A795=	ENST00000369005	NM_206862.2	795	gcA/gcC	0	validated		synonymous	
OR10G7		inserm.fr	GRCh37	11	123908939	123908939	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC304T									Valid												ENST00000330487.5:c.770T>G	p.Ile257Ser	p.I257S	ENST00000330487	NM_001004463.1	257	aTt/aGt	0	validated		possiblydamaging	
ZNF608		inserm.fr	GRCh37	5	124079837	124079837	+	synonymous_variant	Silent	SNP	T	C	C			CHC614T																					ENST00000306315.5:c.846A>G	p.Val282=	p.V282=	ENST00000306315	NM_020747.2	282	gtA/gtG	0	validated		synonymous	
ZNF608		inserm.fr	GRCh37	5	124080677	124080677	+	synonymous_variant	Silent	SNP	T	C	C			CHC1708T																					ENST00000306315.5:c.6A>G	p.Ser2=	p.S2=	ENST00000306315	NM_020747.2	2	tcA/tcG	0	not done		synonymous	
STOM		inserm.fr	GRCh37	9	124110424	124110424	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB325T																					ENST00000286713.2:c.529A>G	p.Thr177Ala	p.T177A	ENST00000286713	NM_004099.5	177	Act/Gct	0	validated		benign	
GTF2H3		inserm.fr	GRCh37	12	124118421	124118421	+	splice_donor_variant	Splice_Site	SNP	T	C	C			CHC1154T																					ENST00000543341.2:c.13+2T>C		p.X5_splice	ENST00000543341	NM_001271868.1			0	not done		possiblydamaging	
VWDE		inserm.fr	GRCh37	7	12417500	12417500	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC703T																					ENST00000275358.3:c.926A>G	p.Tyr309Cys	p.Y309C	ENST00000275358	NM_001135924.1	309	tAc/tGc	0	validated		possiblydamaging	
OR8D2		inserm.fr	GRCh37	11	124189339	124189339	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC909T																					ENST00000357438.2:c.755T>G	p.Phe252Cys	p.F252C	ENST00000357438	NM_001002918.1	252	tTt/tGt	0	not done		probablydamaging	
VWDE		inserm.fr	GRCh37	7	12420235	12420235	+	synonymous_variant	Silent	SNP	T	C	C			CHC1738T																					ENST00000275358.3:c.666A>G	p.Gly222=	p.G222=	ENST00000275358	NM_001135924.1	222	ggA/ggG	0	not done		synonymous	
DMBT1		inserm.fr	GRCh37	10	124345898	124345898	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	C	C			CHC2215T									Valid												ENST00000368909.3:c.1782A>C	p.Ser594=	p.S594=	ENST00000368909	NM_007329.2	594	tcA/tcC	0	validated		damaging	
KALRN		inserm.fr	GRCh37	3	124385401	124385401	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC609T																					ENST00000291478.5:c.1357T>C	p.Phe453Leu	p.F453L	ENST00000291478	NM_007064.3	453	Ttc/Ctc	0	validated		probablydamaging	
KALRN		inserm.fr	GRCh37	3	124436124	124436124	+	synonymous_variant	Silent	SNP	T	C	C			CHC2052T																					ENST00000291478.5:c.3216T>C	p.Leu1072=	p.L1072=	ENST00000291478	NM_007064.3	1072	ctT/ctC	0	not done		synonymous	
C10orf120		inserm.fr	GRCh37	10	124457409	124457409	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1738T																					ENST00000329446.4:c.848A>G	p.Asn283Ser	p.N283S	ENST00000329446	NM_001010912.2	283	aAt/aGt	0	not done		benign	
DAB2IP		inserm.fr	GRCh37	9	124535684	124535684	+	synonymous_variant	Silent	SNP	T	C	C			CHC884T																					ENST00000259371.2:c.2793T>C	p.Asp931=	p.D931=	ENST00000259371	NM_032552.2	931	gaT/gaC	0	validated		synonymous	
ZNF442		inserm.fr	GRCh37	19	12461655	12461655	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC805T																					ENST00000242804.4:c.744T>G	p.Ile248Met	p.I248M	ENST00000242804	NM_030824.2	248	atT/atG	0	not done		possiblydamaging	
ANXA13		inserm.fr	GRCh37	8	124701124	124701124	+	synonymous_variant	Silent	SNP	G	C	C			CHC909T																					ENST00000262219.6:c.828C>G	p.Ala276=	p.A276=	ENST00000262219	NM_001003954.1	276	gcC/gcG	0	not done		synonymous	
ROBO4		inserm.fr	GRCh37	11	124764226	124764226	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1201T																					ENST00000306534.3:c.1189T>G	p.Trp397Gly	p.W397G	ENST00000306534	NM_019055.5	397	Tgg/Ggg	0	not done		probablydamaging	
NCOR2		inserm.fr	GRCh37	12	124810124	124810124	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1137T																					ENST00000405201.1:c.7369A>G	p.Thr2457Ala	p.T2457A	ENST00000405201		2457	Acg/Gcg	0	not done		possiblydamaging	
NCOR2		inserm.fr	GRCh37	12	124887096	124887096	+	synonymous_variant	Silent	SNP	T	C	C			CHC1753T																					ENST00000405201.1:c.1494A>G	p.Gln498=	p.Q498=	ENST00000405201		498	caA/caG	0	not done		synonymous	
NCOR2		inserm.fr	GRCh37	12	124887096	124887096	+	synonymous_variant	Silent	SNP	T	C	C			CHC1044T																					ENST00000405201.1:c.1494A>G	p.Gln498=	p.Q498=	ENST00000405201		498	caA/caG	0	not done		synonymous	
CNTNAP5		inserm.fr	GRCh37	2	124979333	124979333	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC465T									Valid												ENST00000431078.1:c.134G>C	p.Ser45Thr	p.S45T	ENST00000431078	NM_130773.3	45	aGt/aCt	0	validated		probablydamaging	
SNX4		inserm.fr	GRCh37	3	125179693	125179693	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1209T																					ENST00000251775.4:c.866C>G	p.Ser289Cys	p.S289C	ENST00000251775	NM_003794.3	289	tCt/tGt	0	not done		possiblydamaging	
DCAF12L2		inserm.fr	GRCh37	X	125299064	125299064	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1556T																					ENST00000538699.1:c.844T>G	p.Leu282Val	p.L282V	ENST00000538699	NM_001013628.2	282	Ttg/Gtg	0	not done		benign	
OR1N2		inserm.fr	GRCh37	9	125315463	125315463	+	synonymous_variant	Silent	SNP	T	C	C			BCM423T																					ENST00000373688.2:c.15T>C	p.Tyr5=	p.Y5=	ENST00000373688	NM_001004457.1	5	taT/taC	0	validated		synonymous	
ZNF443		inserm.fr	GRCh37	19	12542015	12542015	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1763T																					ENST00000301547.5:c.971T>G	p.Leu324Arg	p.L324R	ENST00000301547	NM_005815.4	324	cTt/cGt	0	not done		probablydamaging	
CPXM2		inserm.fr	GRCh37	10	125472840	125472840	+	non_coding_transcript_exon_variant	RNA	SNP	A	C	C			BCB109T																					ENST00000368854.3:n.2186T>G		*729*	ENST00000368854				0	validated		synonymous	
STT3A		inserm.fr	GRCh37	11	125478026	125478026	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1545T																					ENST00000392708.4:c.803T>C	p.Met268Thr	p.M268T	ENST00000392708	NM_001278503.1	268	aTg/aCg	0	not done		possiblydamaging	
RC3H2		inserm.fr	GRCh37	9	125621361	125621361	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC301T									Valid												ENST00000373670.1:c.1870A>G	p.Thr624Ala	p.T624A	ENST00000373670		624	Acg/Gcg	0	validated		possiblydamaging	
CPXM2		inserm.fr	GRCh37	10	125622233	125622233	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC912T									Valid												ENST00000241305.3:c.410C>G	p.Pro137Arg	p.P137R	ENST00000241305	NM_198148.2	137	cCa/cGa	0	validated		possiblydamaging	
RP11-680F20.4		inserm.fr	GRCh37	11	125810714	125810714	+	non_coding_transcript_exon_variant	RNA	SNP	T	C	C			BCM617T																					ENST00000524467.1:n.375A>G		*125*	ENST00000524467				0	validated			
ALDH1L1		inserm.fr	GRCh37	3	125872379	125872379	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC614T																					ENST00000273450.3:c.796C>G	p.Pro266Ala	p.P266A	ENST00000273450	NM_001270364.1	266	Ccc/Gcc	0	validated		benign	
CDON		inserm.fr	GRCh37	11	125880342	125880342	+	synonymous_variant	Silent	SNP	T	C	C			CHC1712T																					ENST00000392693.3:c.1446A>G	p.Ala482=	p.A482=	ENST00000392693	NM_001243597.1	482	gcA/gcG	0	not done		synonymous	
KLF15		inserm.fr	GRCh37	3	126062700	126062700	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1035T									Valid												ENST00000296233.3:c.1121C>G	p.Ser374Trp	p.S374W	ENST00000296233	NM_014079.3	374	tCg/tGg	0	validated		probablydamaging	
ZXDC		inserm.fr	GRCh37	3	126160633	126160633	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1720T																					ENST00000389709.3:c.2369A>G	p.Gln790Arg	p.Q790R	ENST00000389709	NM_025112.4	790	cAg/cGg	0	not done		possiblydamaging	
CACNA1H		inserm.fr	GRCh37	16	1262059	1262059	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1751T																					ENST00000348261.5:c.4680G>C	p.Lys1560Asn	p.K1560N	ENST00000348261	NM_021098.2	1560	aaG/aaC	0	not done		probablydamaging	
RAF1		inserm.fr	GRCh37	3	12645737	12645737	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC912T																					ENST00000251849.4:c.732T>G	p.Ser244Arg	p.S244R	ENST00000251849	NM_002880.3	244	agT/agG	0	validated		benign	
FAM175B		inserm.fr	GRCh37	10	126519963	126519963	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2141T																					ENST00000298492.5:c.709T>C	p.Cys237Arg	p.C237R	ENST00000298492	NM_032182.3	237	Tgt/Cgt	0	not done		possiblydamaging	
MEGF10		inserm.fr	GRCh37	5	126732358	126732358	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1756T																					ENST00000274473.6:c.547G>C	p.Glu183Gln	p.E183Q	ENST00000274473	NM_032446.2	183	Gag/Cag	0	not done		benign	
LHX2		inserm.fr	GRCh37	9	126783428	126783428	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1725T																					ENST00000373615.4:c.778T>C	p.Tyr260His	p.Y260H	ENST00000373615	NM_004789.3	260	Tac/Cac	0	not done		probablydamaging	
RP11-168K9.2		inserm.fr	GRCh37	11	126969183	126969183	+	non_coding_transcript_exon_variant	RNA	SNP	T	C	C			BCB157T																					ENST00000527317.2:n.305T>C		*102*	ENST00000527317				0	validated			
ZNF800		inserm.fr	GRCh37	7	127014898	127014898	+	synonymous_variant	Silent	SNP	T	C	C			CHC2103T																					ENST00000393313.1:c.492A>G	p.Glu164=	p.E164=	ENST00000393313		164	gaA/gaG	0	not done		synonymous	
NEK6		inserm.fr	GRCh37	9	127083839	127083839	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1209T																					ENST00000373600.3:c.498G>C	p.Gln166His	p.Q166H	ENST00000373600	NM_001145001.2	166	caG/caC	0	not done		benign	
CIRBP		inserm.fr	GRCh37	19	1271181	1271181	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC909T																					ENST00000588030.1:c.146T>C	p.Phe49Ser	p.F49S	ENST00000588030		49	tTt/tCt	0	not done		probablydamaging	
GCC1		inserm.fr	GRCh37	7	127222686	127222686	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2034T																					ENST00000321407.2:c.1710C>G	p.Cys570Trp	p.C570W	ENST00000321407	NM_024523.5	570	tgC/tgG	0	not done		benign	
NR5A1		inserm.fr	GRCh37	9	127245207	127245207	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC884T																					ENST00000373588.4:c.1216C>G	p.Leu406Val	p.L406V	ENST00000373588	NM_004959.4	406	Ctg/Gtg	0	validated		benign	
NR6A1		inserm.fr	GRCh37	9	127298289	127298289	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1594T																					ENST00000487099.2:c.947A>G	p.Tyr316Cys	p.Y316C	ENST00000487099	NM_001489.4	316	tAc/tGc	0	not done		benign	
NR6A1		inserm.fr	GRCh37	9	127300460	127300460	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1207T																					ENST00000487099.2:c.735C>G	p.Ser245Arg	p.S245R	ENST00000487099	NM_001489.4	245	agC/agG	0	not done		benign	
SLC12A2		inserm.fr	GRCh37	5	127420313	127420313	+	synonymous_variant	Silent	SNP	A	C	C			CHC1597T																					ENST00000262461.2:c.667A>C	p.Arg223=	p.R223=	ENST00000262461	NM_001046.2	223	Agg/Cgg	0	not done		synonymous	
C10orf137		inserm.fr	GRCh37	10	127442317	127442317	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2211T																					ENST00000356792.4:c.3448G>C	p.Glu1150Gln	p.E1150Q	ENST00000356792	NM_001202438.1	1150	Gaa/Caa	0	not done		benign	
FBN2		inserm.fr	GRCh37	5	127637144	127637144	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM723T																					ENST00000508053.1:c.5976T>G	p.Asn1992Lys	p.N1992K	ENST00000508053		1992	aaT/aaG	0	validated		possiblydamaging	
KBTBD12		inserm.fr	GRCh37	3	127641994	127641994	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1148T																					ENST00000405109.1:c.90G>C	p.Met30Ile	p.M30I	ENST00000405109		30	atG/atC	0	not done		benign	
LRRC4		inserm.fr	GRCh37	7	127669748	127669748	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC917T									Valid												ENST00000249363.3:c.946C>G	p.Arg316Gly	p.R316G	ENST00000249363	NM_022143.4	316	Cga/Gga	0	validated		possiblydamaging	
FANK1		inserm.fr	GRCh37	10	127677235	127677235	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM339T																					ENST00000368693.1:c.307T>C	p.Ser103Pro	p.S103P	ENST00000368693		103	Tct/Cct	0	validated		probablydamaging	
FBN2		inserm.fr	GRCh37	5	127704896	127704896	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC155T																					ENST00000508053.1:c.2227C>G	p.Pro743Ala	p.P743A	ENST00000508053		743	Cca/Gca	0	validated		probablydamaging	
WDR83OS		inserm.fr	GRCh37	19	12779974	12779974	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2141T																					ENST00000596731.1:c.124A>G	p.Met42Val	p.M42V	ENST00000596731	NM_016145.3	42	Atg/Gtg	0	not done		possiblydamaging	
PPP6C		inserm.fr	GRCh37	9	127920593	127920593	+	synonymous_variant	Silent	SNP	T	C	C			CHC614T																					ENST00000373547.4:c.306A>G	p.Lys102=	p.K102=	ENST00000373547	NM_002721.4	102	aaA/aaG	0	validated		synonymous	
GAPVD1		inserm.fr	GRCh37	9	128064896	128064896	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC796T									Valid												ENST00000394105.2:c.820T>C	p.Tyr274His	p.Y274H	ENST00000394105	NM_015635.2	274	Tat/Cat	0	validated		probablydamaging	
GAPVD1		inserm.fr	GRCh37	9	128094247	128094247	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1754T																					ENST00000394105.2:c.2216A>C	p.Glu739Ala	p.E739A	ENST00000394105	NM_015635.2	739	gAg/gCg	0	not done		possiblydamaging	
THEMIS		inserm.fr	GRCh37	6	128150921	128150921	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC912T																					ENST00000543064.1:c.409A>G	p.Met137Val	p.M137V	ENST00000543064	NM_001164685.1	137	Atg/Gtg	0	validated		benign	
C10orf90		inserm.fr	GRCh37	10	128192835	128192835	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC789T																					ENST00000284694.7:c.934A>G	p.Arg312Gly	p.R312G	ENST00000284694	NM_001004298.2	312	Aga/Gga	0	not done		benign	
TNPO2		inserm.fr	GRCh37	19	12822402	12822402	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1183T																					ENST00000425528.1:c.916A>G	p.Met306Val	p.M306V	ENST00000425528		306	Atg/Gtg	0	not done		probablydamaging	
MYO7B		inserm.fr	GRCh37	2	128367489	128367489	+	synonymous_variant	Silent	SNP	T	C	C			BCM531T																					ENST00000428314.1:c.3090T>C	p.Tyr1030=	p.Y1030=	ENST00000428314	NM_001080527.1	1030	taT/taC	0	validated		synonymous	
SMARCA1		inserm.fr	GRCh37	X	128649686	128649686	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1040T																					ENST00000371122.4:c.608A>G	p.Asn203Ser	p.N203S	ENST00000371122	NM_003069.3	203	aAt/aGt	0	not done		possiblydamaging	
SMARCA1		inserm.fr	GRCh37	X	128650417	128650417	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1742T																					ENST00000371122.4:c.319C>G	p.His107Asp	p.H107D	ENST00000371122	NM_003069.3	107	Cat/Gat	0	not done		probablydamaging	
BEST2		inserm.fr	GRCh37	19	12868502	12868502	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1725T																					ENST00000549706.1:c.1141G>C	p.Gly381Arg	p.G381R	ENST00000549706		381	Ggc/Cgc	0	not done		benign	
OCRL		inserm.fr	GRCh37	X	128691882	128691882	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC303T									Valid												ENST00000371113.4:c.394T>C	p.Trp132Arg	p.W132R	ENST00000371113	NM_000276.3	132	Tgg/Cgg	0	validated		probablydamaging	
SAP130		inserm.fr	GRCh37	2	128712852	128712852	+	synonymous_variant	Silent	SNP	T	C	C			CHC2103T																					ENST00000357702.5:c.2208A>G	p.Val736=	p.V736=	ENST00000357702	NM_001145928.1	736	gtA/gtG	0	not done		synonymous	
SAP130		inserm.fr	GRCh37	2	128757988	128757988	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1205T																					ENST00000357702.5:c.988A>G	p.Ile330Val	p.I330V	ENST00000357702	NM_001145928.1	330	Atc/Gtc	0	not done		possiblydamaging	
KCNJ5-AS1		inserm.fr	GRCh37	11	128772592	128772592	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1207T																					ENST00000310799.3:c.298A>G	p.Thr100Ala	p.T100A	ENST00000310799	NM_145013.2	100	Acc/Gcc	0	not done		benign	
SAP130		inserm.fr	GRCh37	2	128783810	128783810	+	synonymous_variant	Silent	SNP	G	C	C			CHC1626T																					ENST00000357702.5:c.135C>G	p.Ala45=	p.A45=	ENST00000357702	NM_001145928.1	45	gcC/gcG	0	not done		synonymous	
KCNJ5		inserm.fr	GRCh37	11	128786453	128786453	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1061T									Valid												ENST00000529694.1:c.1087T>C	p.Cys363Arg	p.C363R	ENST00000529694	NM_000890.3	363	Tgt/Cgt	0	validated		possiblydamaging	
PLK4		inserm.fr	GRCh37	4	128807141	128807141	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1915T																					ENST00000270861.5:c.616A>C	p.Ile206Leu	p.I206L	ENST00000270861	NM_014264.4	206	Atc/Ctc	0	validated		benign	
HOOK2		inserm.fr	GRCh37	19	12880786	12880786	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2099T																					ENST00000397668.3:c.1013A>G	p.Asn338Ser	p.N338S	ENST00000397668	NM_013312.2	338	aAc/aGc	0	validated		probablydamaging	
MXRA8		inserm.fr	GRCh37	1	1290066	1290066	+	synonymous_variant	Silent	SNP	G	C	C			CHC197T																					ENST00000309212.6:c.945C>G	p.Gly315=	p.G315=	ENST00000309212	NM_032348.2	315	ggC/ggG	0	validated		synonymous	
C3orf37		inserm.fr	GRCh37	3	129007814	129007814	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1745T																					ENST00000383463.4:c.301A>C	p.Thr101Pro	p.T101P	ENST00000383463	NM_020187.2	101	Acc/Ccc	0	not done		probablydamaging	
TEAD1		inserm.fr	GRCh37	11	12902557	12902557	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1205T																					ENST00000361985.2:c.471G>C	p.Trp157Cys	p.W157C	ENST00000361985		157	tgG/tgC	0	not done		probablydamaging	
LARP1B		inserm.fr	GRCh37	4	129028398	129028398	+	synonymous_variant	Silent	SNP	A	C	C			CHC961T																					ENST00000326639.6:c.918A>C	p.Pro306=	p.P306=	ENST00000326639	NM_018078.3	306	ccA/ccC	0	validated		synonymous	
UTP14A		inserm.fr	GRCh37	X	129054452	129054452	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC429T									Valid												ENST00000394422.3:c.772A>C	p.Lys258Gln	p.K258Q	ENST00000394422	NM_006649.3	258	Aaa/Caa	0	validated		probablydamaging	
SDCBP2		inserm.fr	GRCh37	20	1291465	1291465	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1743T																					ENST00000360779.3:c.803T>G	p.Ile268Ser	p.I268S	ENST00000360779	NM_080489.4	268	aTc/aGc	0	not done		possiblydamaging	
BCORL1		inserm.fr	GRCh37	X	129149454	129149454	+	synonymous_variant	Silent	SNP	T	C	C			BCM329T																					ENST00000540052.1:c.2706T>C	p.Val902=	p.V902=	ENST00000540052	NM_021946.4	902	gtT/gtC	0	validated		synonymous	
BCORL1		inserm.fr	GRCh37	X	129156954	129156954	+	splice_donor_variant	Splice_Site	SNP	T	C	C			CHC1192T																					ENST00000540052.1:c.3688+2T>C		p.X1230_splice	ENST00000540052	NM_021946.4			0	not done		possiblydamaging	
BCORL1		inserm.fr	GRCh37	X	129185928	129185928	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC429T									Valid												ENST00000540052.1:c.4790T>C	p.Met1597Thr	p.M1597T	ENST00000540052	NM_021946.4	1597	aTg/aCg	0	validated		possiblydamaging	
PRAMEF2		inserm.fr	GRCh37	1	12918997	12918997	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1098T																					ENST00000240189.2:c.133A>C	p.Ser45Arg	p.S45R	ENST00000240189	NM_023014.1	45	Agc/Cgc	0	validated		benign	
PGRMC2		inserm.fr	GRCh37	4	129208901	129208901	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1082T																					ENST00000520121.1:c.117T>G	p.Ser39Arg	p.S39R	ENST00000520121	NM_006320.4	39	agT/agG	0	validated		benign	
PLXND1		inserm.fr	GRCh37	3	129284799	129284799	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2216T																					ENST00000324093.4:c.4253A>G	p.Asn1418Ser	p.N1418S	ENST00000324093	NM_015103.2	1418	aAc/aGc	0	not done		probablydamaging	
SLC15A4		inserm.fr	GRCh37	12	129293979	129293979	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1566T																					ENST00000266771.5:c.1051A>G	p.Ile351Val	p.I351V	ENST00000266771	NM_145648.3	351	Att/Gtt	0	not done		possiblydamaging	
TLR8		inserm.fr	GRCh37	X	12937662	12937662	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC429T																					ENST00000218032.6:c.503G>C	p.Arg168Thr	p.R168T	ENST00000218032	NM_138636.4	168	aGa/aCa	0	validated		benign	
TLR8		inserm.fr	GRCh37	X	12939716	12939716	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1569T																					ENST00000218032.6:c.2557T>C	p.Tyr853His	p.Y853H	ENST00000218032	NM_138636.4	853	Tac/Cac	0	not done		benign	
RTBDN		inserm.fr	GRCh37	19	12939741	12939741	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC051T									Valid												ENST00000322912.5:c.292A>G	p.Thr98Ala	p.T98A	ENST00000322912	NM_031429.2	98	Aca/Gca	0	validated		possiblydamaging	
TERT		inserm.fr	GRCh37	5	1295157	1295157	+	5_prime_UTR_variant	5'UTR	SNP	T	C	C			CHC1629T									Valid												ENST00000310581.5:c.-53A>G		*18*	ENST00000310581	NM_198253.2			0	no detection		damaging	
TMEM132D		inserm.fr	GRCh37	12	129569111	129569111	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM617T																					ENST00000422113.2:c.1580A>G	p.Gln527Arg	p.Q527R	ENST00000422113	NM_133448.2	527	cAg/cGg	0	validated		possiblydamaging	
IQSEC1		inserm.fr	GRCh37	3	12957146	12957146	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2115T																					ENST00000273221.4:c.2150A>G	p.Asp717Gly	p.D717G	ENST00000273221	NM_014869.5	717	gAc/gGc	0	not done		probablydamaging	
LAMA2		inserm.fr	GRCh37	6	129622011	129622011	+	synonymous_variant	Silent	SNP	T	C	C			CHC1741T																					ENST00000421865.2:c.3168T>C	p.Gly1056=	p.G1056=	ENST00000421865	NM_001079823.1	1056	ggT/ggC	0	not done		synonymous	
NFRKB		inserm.fr	GRCh37	11	129734959	129734959	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1531T																					ENST00000524794.1:c.3751A>G	p.Met1251Val	p.M1251V	ENST00000524794		1251	Atg/Gtg	0	not done		probablydamaging	
PHF17		inserm.fr	GRCh37	4	129793084	129793084	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1602T																					ENST00000226319.6:c.2196G>C	p.Gln732His	p.Q732H	ENST00000226319	NM_199320.2	732	caG/caC	0	not done		benign	
ENOX2		inserm.fr	GRCh37	X	129813524	129813524	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2352T																					ENST00000338144.3:c.539A>G	p.Tyr180Cys	p.Y180C	ENST00000338144	NM_182314.1	180	tAt/tGt	0	not done		probablydamaging	
ENOX2		inserm.fr	GRCh37	X	129813680	129813680	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC218T																					ENST00000338144.3:c.383A>G	p.Lys128Arg	p.K128R	ENST00000338144	NM_182314.1	128	aAa/aGa	0	validated		probablydamaging	
TMEM209		inserm.fr	GRCh37	7	129818358	129818358	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T									Valid												ENST00000397622.2:c.1130T>G	p.Ile377Ser	p.I377S	ENST00000397622	NM_032842.3	377	aTt/aGt	0	validated		probablydamaging	
MKI67		inserm.fr	GRCh37	10	129904619	129904619	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1774T																					ENST00000368654.3:c.5485C>G	p.Leu1829Val	p.L1829V	ENST00000368654	NM_002417.4	1829	Cta/Gta	0	validated		probablydamaging	
ARHGAP18		inserm.fr	GRCh37	6	129959556	129959556	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1545T																					ENST00000368149.2:c.535A>G	p.Arg179Gly	p.R179G	ENST00000368149	NM_033515.2	179	Aga/Gga	0	not done		benign	
CPA1		inserm.fr	GRCh37	7	130027730	130027730	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM683T																					ENST00000011292.3:c.1138G>C	p.Glu380Gln	p.E380Q	ENST00000011292	NM_001868.2	380	Gag/Cag	0	validated		probablydamaging	
CEP41		inserm.fr	GRCh37	7	130040075	130040075	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1717T																					ENST00000223208.5:c.778A>G	p.Lys260Glu	p.K260E	ENST00000223208	NM_018718.2	260	Aaa/Gaa	0	not done		possiblydamaging	
TMEM244		inserm.fr	GRCh37	6	130164740	130164740	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC912T																					ENST00000438392.1:c.128A>G	p.Glu43Gly	p.E43G	ENST00000438392		43	gAg/gGg	0	validated		possiblydamaging	
SLC2A8		inserm.fr	GRCh37	9	130167802	130167802	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM543T																					ENST00000373371.3:c.1254G>C	p.Trp418Cys	p.W418C	ENST00000373371	NM_014580.4	418	tgG/tgC	0	validated		probablydamaging	
RASSF10		inserm.fr	GRCh37	11	13031276	13031276	+	non_coding_transcript_exon_variant	RNA	SNP	G	C	C			BCB111T																					ENST00000340901.4:n.477G>C		*159*	ENST00000340901				0	validated		synonymous	
KLF14		inserm.fr	GRCh37	7	130417938	130417938	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC902T																					ENST00000310992.4:c.923C>G	p.Ala308Gly	p.A308G	ENST00000310992	NM_138693.3	308	gCc/gGc	0	not done		benign	
PIK3R4		inserm.fr	GRCh37	3	130452556	130452556	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC884T									Valid												ENST00000356763.3:c.1286C>G	p.Ser429Cys	p.S429C	ENST00000356763	NM_014602.2	429	tCt/tGt	0	validated		probablydamaging	
HINT1		inserm.fr	GRCh37	5	130498300	130498300	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1055T																					ENST00000304043.5:c.181T>G	p.Ser61Ala	p.S61A	ENST00000304043	NM_005340.6	61	Tcc/Gcc	0	validated		benign	
ATP2C1		inserm.fr	GRCh37	3	130716599	130716599	+	splice_donor_variant	Splice_Site	SNP	T	C	C			BCM723T																					ENST00000393221.4:c.2493+2T>C		p.X831_splice	ENST00000393221				0	validated		damaging	
RAPGEF6		inserm.fr	GRCh37	5	130764686	130764686	+	synonymous_variant	Silent	SNP	T	C	C			CHC917T																					ENST00000296859.6:c.4713A>G	p.Pro1571=	p.P1571=	ENST00000296859		1571	ccA/ccG	0	validated		synonymous	
SNX19		inserm.fr	GRCh37	11	130784167	130784167	+	synonymous_variant	Silent	SNP	A	C	C			CHC451T																					ENST00000265909.4:c.1668T>G	p.Thr556=	p.T556=	ENST00000265909	NM_014758.2	556	acT/acG	0	not done		synonymous	
RAPGEF6		inserm.fr	GRCh37	5	130841131	130841131	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2029T																					ENST00000296859.6:c.1027A>G	p.Ser343Gly	p.S343G	ENST00000296859		343	Agt/Ggt	0	not done		probablydamaging	
PIWIL1		inserm.fr	GRCh37	12	130841556	130841556	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC609T																					ENST00000245255.3:c.1498T>C	p.Tyr500His	p.Y500H	ENST00000245255	NM_004764.4	500	Tat/Cat	0	validated		benign	
FNIP1		inserm.fr	GRCh37	5	130987653	130987653	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM711T																					ENST00000510461.1:c.3148A>G	p.Ile1050Val	p.I1050V	ENST00000510461	NM_133372.2	1050	Att/Gtt	0	validated		probablydamaging	
PTPN18		inserm.fr	GRCh37	2	131127764	131127764	+	splice_donor_variant	Splice_Site	SNP	G	C	C			CHC1205T																					ENST00000175756.5:c.689+1G>C		p.X230_splice	ENST00000175756	NM_014369.3			0	not done		possiblydamaging	
PTPN18		inserm.fr	GRCh37	2	131130777	131130777	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1745T																					ENST00000175756.5:c.1363G>C	p.Ala455Pro	p.A455P	ENST00000175756	NM_014369.3	455	Gct/Cct	0	not done		probablydamaging	
ODF2		inserm.fr	GRCh37	9	131256878	131256878	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2052T																					ENST00000434106.3:c.1842A>C	p.Gln614His	p.Q614H	ENST00000434106	NM_153433.1	614	caA/caC	0	not done		benign	
STX2		inserm.fr	GRCh37	12	131280661	131280661	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2052T																					ENST00000392373.2:c.791A>G	p.Lys264Arg	p.K264R	ENST00000392373	NM_194356.2	264	aAg/aGg	0	not done		benign	
WDR34		inserm.fr	GRCh37	9	131397375	131397375	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2216T																					ENST00000372715.2:c.977A>G	p.Lys326Arg	p.K326R	ENST00000372715	NM_052844.3	326	aAg/aGg	0	validated		benign	
AMER3		inserm.fr	GRCh37	2	131521693	131521693	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM783T																					ENST00000423981.1:c.2048T>C	p.Leu683Pro	p.L683P	ENST00000423981	NM_001105194.1	683	cTg/cCg	0	validated		probablydamaging	
P4HA2		inserm.fr	GRCh37	5	131539453	131539453	+	synonymous_variant	Silent	SNP	T	C	C			CHC2206T																					ENST00000401867.1:c.1239A>G	p.Ala413=	p.A413=	ENST00000401867		413	gcA/gcG	0	not done		synonymous	
MBNL3		inserm.fr	GRCh37	X	131540339	131540339	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2215T																					ENST00000370853.3:c.259A>G	p.Asn87Asp	p.N87D	ENST00000370853	NM_018388.3	87	Aat/Gat	0	not done		probablydamaging	
GPR133		inserm.fr	GRCh37	12	131569204	131569204	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1731T																					ENST00000261654.5:c.1667T>C	p.Leu556Pro	p.L556P	ENST00000261654	NM_198827.3	556	cTg/cCg	0	not done		benign	
ENDOG		inserm.fr	GRCh37	9	131581080	131581080	+	synonymous_variant	Silent	SNP	G	C	C			CHC2208T																					ENST00000372642.4:c.117G>C	p.Arg39=	p.R39=	ENST00000372642	NM_004435.2	39	cgG/cgC	0	validated		synonymous	
ARHGEF4		inserm.fr	GRCh37	2	131688699	131688699	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1154T																					ENST00000326016.5:c.169G>C	p.Gly57Arg	p.G57R	ENST00000326016	NM_015320.3	57	Ggc/Cgc	0	not done		benign	
NUP188		inserm.fr	GRCh37	9	131748857	131748857	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC703T																					ENST00000372577.2:c.2097G>C	p.Gln699His	p.Q699H	ENST00000372577	NM_015354.2	699	caG/caC	0	validated		probablydamaging	
IRF1		inserm.fr	GRCh37	5	131819748	131819748	+	synonymous_variant	Silent	SNP	T	C	C			BCM321T																					ENST00000245414.4:c.873A>G	p.Leu291=	p.L291=	ENST00000245414	NM_002198.2	291	ctA/ctG	0	validated		synonymous	
PLXNA4		inserm.fr	GRCh37	7	131859679	131859679	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC258T									Valid												ENST00000359827.3:c.3875C>G	p.Ala1292Gly	p.A1292G	ENST00000359827		1292	gCc/gGc	0	validated		probablydamaging	
ADCY8		inserm.fr	GRCh37	8	131880191	131880191	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC898T																					ENST00000286355.5:c.2111A>G	p.Tyr704Cys	p.Y704C	ENST00000286355	NM_001115.2	704	tAt/tGt	0	not done		probablydamaging	
MPDZ		inserm.fr	GRCh37	9	13190145	13190145	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC313T																					ENST00000541718.1:c.2122A>G	p.Lys708Glu	p.K708E	ENST00000541718	NM_001261407.1	708	Aaa/Gaa	0	validated		benign	
MED23		inserm.fr	GRCh37	6	131937067	131937067	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1207T																					ENST00000368068.3:c.856A>G	p.Met286Val	p.M286V	ENST00000368068	NM_004830.3	286	Atg/Gtg	0	not done		possiblydamaging	
POTEE		inserm.fr	GRCh37	2	131976384	131976384	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC793T																					ENST00000356920.5:c.409G>C	p.Gly137Arg	p.G137R	ENST00000356920	NM_001083538.1	137	Gga/Cga	0	validated		benign	
PLXNA4		inserm.fr	GRCh37	7	132069958	132069958	+	intron_variant	Intron	SNP	A	C	C			CHC736T																					ENST00000359827.3:c.1372-86977T>G		*458*	ENST00000359827				0	validated			
SHROOM1		inserm.fr	GRCh37	5	132158949	132158949	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1611T																					ENST00000378679.3:c.2219A>G	p.Asp740Gly	p.D740G	ENST00000378679	NM_001172700.1	740	gAt/gGt	0	not done		possiblydamaging	
ENPP1		inserm.fr	GRCh37	6	132171128	132171128	+	splice_acceptor_variant	Splice_Site	SNP	A	C	C			CHC303T									Valid												ENST00000360971.2:c.314-2A>C		p.X105_splice	ENST00000360971	NM_006208.2			0	validated		possiblydamaging	
CLPTM1L		inserm.fr	GRCh37	5	1321928	1321928	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1180T																					ENST00000320895.5:c.1322A>G	p.Tyr441Cys	p.Y441C	ENST00000320895	NM_030782.3	441	tAt/tGt	0	validated		probablydamaging	
DNAJC13		inserm.fr	GRCh37	3	132215436	132215436	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2362T																					ENST00000260818.6:c.4085A>C	p.Asp1362Ala	p.D1362A	ENST00000260818	NM_015268.3	1362	gAt/gCt	0	validated		probablydamaging	
NTMT1		inserm.fr	GRCh37	9	132396583	132396583	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC1747T																					ENST00000372486.1:c.413T>C	p.Ile138Thr	p.I138T	ENST00000372486	NM_001286796.1	138	aTa/aCa	0	not done		possiblydamaging	
HSPA4		inserm.fr	GRCh37	5	132427064	132427064	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC896T																					ENST00000304858.2:c.1558G>C	p.Glu520Gln	p.E520Q	ENST00000304858	NM_002154.3	520	Gag/Cag	0	not done		benign	
NPHP3		inserm.fr	GRCh37	3	132440811	132440811	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC451T																					ENST00000337331.5:c.389T>G	p.Leu130Arg	p.L130R	ENST00000337331	NM_153240.4	130	cTg/cGg	0	validated		probablydamaging	
GPC4		inserm.fr	GRCh37	X	132473288	132473288	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC051T																					ENST00000370828.3:c.242A>G	p.Asp81Gly	p.D81G	ENST00000370828	NM_001448.2	81	gAt/gGt	0	validated		benign	
EP400		inserm.fr	GRCh37	12	132498093	132498093	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1744T																					ENST00000389561.2:c.3670A>C	p.Thr1224Pro	p.T1224P	ENST00000389561	NM_015409.4	1224	Acc/Ccc	0	not done		probablydamaging	
EP400		inserm.fr	GRCh37	12	132510337	132510337	+	synonymous_variant	Silent	SNP	T	C	C			CHC2208T																					ENST00000389561.2:c.5002T>C	p.Leu1668=	p.L1668=	ENST00000389561	NM_015409.4	1668	Ttg/Ctg	0	not done		synonymous	
EP400		inserm.fr	GRCh37	12	132551969	132551969	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1154T																					ENST00000389561.2:c.8812G>C	p.Val2938Leu	p.V2938L	ENST00000389561	NM_015409.4	2938	Gtc/Ctc	0	not done		possiblydamaging	
STX10		inserm.fr	GRCh37	19	13260356	13260356	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2216T																					ENST00000587230.1:c.257A>G	p.Gln86Arg	p.Q86R	ENST00000587230	NM_001271609.1	86	cAg/cGg	0	not done		benign	
FSTL4		inserm.fr	GRCh37	5	132902902	132902902	+	synonymous_variant	Silent	SNP	T	C	C			BCB111T																					ENST00000265342.7:c.135A>G	p.Arg45=	p.R45=	ENST00000265342	NM_015082.1	45	agA/agG	0	validated		synonymous	
EXOC4		inserm.fr	GRCh37	7	133041167	133041167	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2206T																					ENST00000253861.4:c.847A>C	p.Ile283Leu	p.I283L	ENST00000253861	NM_021807.3	283	Att/Ctt	0	not done		benign	
KCNQ3		inserm.fr	GRCh37	8	133152369	133152369	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1201T																					ENST00000388996.4:c.1522A>G	p.Ile508Val	p.I508V	ENST00000388996	NM_004519.3	508	Atc/Gtc	0	not done		benign	
P2RX2		inserm.fr	GRCh37	12	133198125	133198125	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC205T									Valid												ENST00000343948.4:c.1061T>C	p.Val354Ala	p.V354A	ENST00000343948	NM_001282165.1	354	gTg/gCg	0	validated		probablydamaging	
POLE		inserm.fr	GRCh37	12	133202773	133202773	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1749T																					ENST00000320574.5:c.6461C>G	p.Pro2154Arg	p.P2154R	ENST00000320574	NM_006231.2	2154	cCt/cGt	0	not done		probablydamaging	
ZNF605		inserm.fr	GRCh37	12	133503157	133503157	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1209T																					ENST00000392321.3:c.821A>G	p.His274Arg	p.H274R	ENST00000392321	NM_001164715.1	274	cAt/cGt	0	not done		probablydamaging	
ZNF605		inserm.fr	GRCh37	12	133503351	133503351	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2113T																					ENST00000392321.3:c.627T>G	p.Phe209Leu	p.F209L	ENST00000392321	NM_001164715.1	209	ttT/ttG	0	not done		probablydamaging	
NCKAP5		inserm.fr	GRCh37	2	133541653	133541653	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1616T																					ENST00000409261.1:c.2731A>G	p.Thr911Ala	p.T911A	ENST00000409261	NM_207363.2	911	Acg/Gcg	0	not done		possiblydamaging	
NUP210		inserm.fr	GRCh37	3	13360642	13360642	+	synonymous_variant	Silent	SNP	G	C	C			CHC1154T																					ENST00000254508.5:c.5493C>G	p.Val1831=	p.V1831=	ENST00000254508	NM_024923.3	1831	gtC/gtG	0	not done		synonymous	
TG		inserm.fr	GRCh37	8	133895228	133895228	+	synonymous_variant	Silent	SNP	G	C	C			CHC2127T																					ENST00000220616.4:c.1059G>C	p.Gly353=	p.G353=	ENST00000220616	NM_003235.4	353	ggG/ggC	0	not done		synonymous	
RYK		inserm.fr	GRCh37	3	133901869	133901869	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1044T																					ENST00000296084.4:c.1152T>G	p.Cys384Trp	p.C384W	ENST00000296084	NM_001005861.2	384	tgT/tgG	0	not done		probablydamaging	
RYK		inserm.fr	GRCh37	3	133921646	133921646	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC155T									Valid												ENST00000296084.4:c.710T>G	p.Val237Gly	p.V237G	ENST00000296084	NM_001005861.2	237	gTa/gGa	0	validated		probablydamaging	
DPYSL4		inserm.fr	GRCh37	10	134008499	134008499	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB231T									Valid												ENST00000338492.4:c.464T>C	p.Leu155Pro	p.L155P	ENST00000338492	NM_006426.2	155	cTg/cCg	0	validated		probablydamaging	
SEC24A		inserm.fr	GRCh37	5	134032936	134032936	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC2141T																					ENST00000398844.2:c.2107G>C	p.Gly703Arg	p.G703R	ENST00000398844	NM_021982.2	703	Ggt/Cgt	0	not done		probablydamaging	
THYN1		inserm.fr	GRCh37	11	134118788	134118788	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1616T																					ENST00000341541.3:c.546T>G	p.His182Gln	p.H182Q	ENST00000341541	NM_014174.2	182	caT/caG	0	not done		probablydamaging	
FAM78A		inserm.fr	GRCh37	9	134151245	134151245	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			BCM483T									Valid												ENST00000372271.3:c.322A>G	p.Met108Val	p.M108V	ENST00000372271	NM_033387.3	108	Atg/Gtg	0	validated		damaging	
NUP210		inserm.fr	GRCh37	3	13415234	13415234	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC313T									Valid												ENST00000254508.5:c.1571A>G	p.His524Arg	p.H524R	ENST00000254508	NM_024923.3	524	cAt/cGt	0	validated		probablydamaging	
WISP1		inserm.fr	GRCh37	8	134239875	134239875	+	synonymous_variant	Silent	SNP	T	C	C			CHC451T																					ENST00000250160.6:c.1026T>C	p.Cys342=	p.C342=	ENST00000250160	NM_003882.3	342	tgT/tgC	0	not done		synonymous	
UVSSA		inserm.fr	GRCh37	4	1343424	1343424	+	synonymous_variant	Silent	SNP	A	C	C			CHC1744T																					ENST00000389851.4:c.211A>C	p.Arg71=	p.R71=	ENST00000389851	NM_020894.2	71	Agg/Cgg	0	not done		synonymous	
ZNF75D		inserm.fr	GRCh37	X	134427941	134427941	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC306T																					ENST00000370766.3:c.126T>G	p.Asn42Lys	p.N42K	ENST00000370766	NM_007131.3	42	aaT/aaG	0	validated		benign	
DDX26B		inserm.fr	GRCh37	X	134709019	134709019	+	synonymous_variant	Silent	SNP	T	C	C			CHC097T																					ENST00000370752.4:c.1641T>C	p.His547=	p.H547=	ENST00000370752	NM_182540.4	547	caT/caC	0	not done		synonymous	
TTC40		inserm.fr	GRCh37	10	134735710	134735710	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1736T																					ENST00000368586.5:c.1504A>G	p.Lys502Glu	p.K502E	ENST00000368586	NM_001200049.2	502	Aag/Gag	0	not done		benign	
NEUROG1		inserm.fr	GRCh37	5	134870728	134870728	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCB231T																					ENST00000314744.4:c.653C>G	p.Ser218Cys	p.S218C	ENST00000314744	NM_006161.2	218	tCc/tGc	0	validated		possiblydamaging	
UTF1		inserm.fr	GRCh37	10	135044823	135044823	+	synonymous_variant	Silent	SNP	G	C	C			BCM399T																					ENST00000304477.2:c.903G>C	p.Leu301=	p.L301=	ENST00000304477	NM_003577.2	301	ctG/ctC	0	validated		synonymous	
ADAM8		inserm.fr	GRCh37	10	135083910	135083910	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM543T																					ENST00000445355.3:c.1739C>G	p.Thr580Ser	p.T580S	ENST00000445355	NM_001109.4	580	aCt/aGt	0	validated		benign	
BEND7		inserm.fr	GRCh37	10	13523075	13523075	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2127T																					ENST00000341083.3:c.731A>G	p.Gln244Arg	p.Q244R	ENST00000341083	NM_152751.2	244	cAg/cGg	0	not done		probablydamaging	
RP11-108K14.4		inserm.fr	GRCh37	10	135273583	135273583	+	non_coding_transcript_exon_variant	RNA	SNP	G	C	C			CHC1545T																					ENST00000482993.2:n.3023G>C		*1008*	ENST00000482993				0	not done			
C12orf36		inserm.fr	GRCh37	12	13529224	13529224	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC896T																					ENST00000318426.2:c.116T>G	p.Leu39Arg	p.L39R	ENST00000318426		39	cTg/cGg	0	not done		benign	
HBS1L		inserm.fr	GRCh37	6	135307950	135307950	+	splice_acceptor_variant	Splice_Site	SNP	T	C	C			CHC1148T																					ENST00000367837.5:c.1231-2A>G		p.X411_splice	ENST00000367837	NM_006620.3			0	not done		possiblydamaging	
HBS1L		inserm.fr	GRCh37	6	135308850	135308850	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2358T																					ENST00000367837.5:c.1163A>G	p.Glu388Gly	p.E388G	ENST00000367837	NM_006620.3	388	gAg/gGg	0	validated		probablydamaging	
CYP2E1		inserm.fr	GRCh37	10	135352301	135352301	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1751T																					ENST00000463117.2:c.1315G>C	p.Gly439Arg	p.G439R	ENST00000463117		439	Gga/Cga	0	not done		probablydamaging	
SYCE1		inserm.fr	GRCh37	10	135370592	135370592	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1746T																					ENST00000343131.5:c.443A>G	p.Lys148Arg	p.K148R	ENST00000343131	NM_001143764.1	148	aAg/aGg	0	not done		probablydamaging	
NKX3-2		inserm.fr	GRCh37	4	13545688	13545688	+	synonymous_variant	Silent	SNP	G	C	C			CHC432T																					ENST00000382438.5:c.351C>G	p.Gly117=	p.G117=	ENST00000382438	NM_001189.3	117	ggC/ggG	0	not done		synonymous	
ZFAT		inserm.fr	GRCh37	8	135602513	135602513	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC218T																					ENST00000377838.3:c.2561C>G	p.Pro854Arg	p.P854R	ENST00000377838	NM_020863.3	854	cCt/cGt	0	validated		probablydamaging	
PPP2R3A		inserm.fr	GRCh37	3	135721049	135721049	+	synonymous_variant	Silent	SNP	T	C	C			CHC1085T																					ENST00000264977.3:c.709T>C	p.Leu237=	p.L237=	ENST00000264977	NM_001190447.1	237	Ttg/Ctg	0	validated		synonymous	
AHI1		inserm.fr	GRCh37	6	135748431	135748431	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2099T																					ENST00000367800.4:c.2638A>G	p.Met880Val	p.M880V	ENST00000367800	NM_001134830.1	880	Atg/Gtg	0	not done		benign	
AHI1		inserm.fr	GRCh37	6	135778775	135778775	+	synonymous_variant	Silent	SNP	T	C	C			CHC1743T																					ENST00000367800.4:c.1008A>G	p.Lys336=	p.K336=	ENST00000367800	NM_001134830.1	336	aaA/aaG	0	not done		synonymous	
PCCB		inserm.fr	GRCh37	3	135980906	135980906	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC1044T																					ENST00000469217.1:c.602T>C	p.Leu201Pro	p.L201P	ENST00000469217	NM_001178014.1	201	cTg/cCg	0	not done		damaging	
GPR101		inserm.fr	GRCh37	X	136112467	136112467	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1594T																					ENST00000298110.1:c.1367A>G	p.Tyr456Cys	p.Y456C	ENST00000298110	NM_054021.1	456	tAc/tGc	0	not done		probablydamaging	
CACFD1		inserm.fr	GRCh37	9	136325255	136325255	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM375T																					ENST00000540581.1:c.67A>C	p.Met23Leu	p.M23L	ENST00000540581	NM_001242369.1	23	Atg/Ctg	0	validated		probablydamaging	
CACFD1		inserm.fr	GRCh37	9	136330556	136330556	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1704T																					ENST00000540581.1:c.307G>C	p.Val103Leu	p.V103L	ENST00000540581	NM_001242369.1	103	Gtc/Ctc	0	not done		benign	
SLC2A6		inserm.fr	GRCh37	9	136338343	136338343	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC433T									Valid												ENST00000371899.4:c.1252T>G	p.Trp418Gly	p.W418G	ENST00000371899	NM_017585.3	418	Tgg/Ggg	0	validated		probablydamaging	
SLC2A6		inserm.fr	GRCh37	9	136343452	136343452	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2115T																					ENST00000371899.4:c.179C>G	p.Ser60Cys	p.S60C	ENST00000371899	NM_017585.3	60	tCc/tGc	0	not done		probablydamaging	
LOC100506791		inserm.fr	GRCh37	5	1363831	1363831	+	non_coding_transcript_exon_variant	RNA	SNP	T	C	C			CHC1601T																					ENST00000504989.1:n.1482A>G		*494*	ENST00000504989				0	not done			
BCLAF1		inserm.fr	GRCh37	6	136599777	136599777	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1629T																					ENST00000531224.1:c.242A>G	p.Tyr81Cys	p.Y81C	ENST00000531224	NM_001077441.1	81	tAt/tGt	0	not done		probablydamaging	
VAV2		inserm.fr	GRCh37	9	136677279	136677279	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1738T																					ENST00000371850.3:c.509A>G	p.Asp170Gly	p.D170G	ENST00000371850	NM_001134398.1	170	gAc/gGc	0	not done		benign	
DNAH5		inserm.fr	GRCh37	5	13708255	13708255	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM483T									Valid												ENST00000265104.4:c.13315A>G	p.Arg4439Gly	p.R4439G	ENST00000265104	NM_001369.2	4439	Aga/Gga	0	validated		probablydamaging	
GRIN2B		inserm.fr	GRCh37	12	13716154	13716154	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1209T																					ENST00000609686.1:c.4018T>G	p.Phe1340Val	p.F1340V	ENST00000609686	NM_000834.3	1340	Ttt/Gtt	0	not done		possiblydamaging	
IL22RA2		inserm.fr	GRCh37	6	137468954	137468954	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2127T																					ENST00000296980.2:c.547T>G	p.Leu183Val	p.L183V	ENST00000296980	NM_052962.2	183	Tta/Gta	0	not done		possiblydamaging	
IL22RA2		inserm.fr	GRCh37	6	137476092	137476092	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1209T																					ENST00000296980.2:c.458C>G	p.Thr153Ser	p.T153S	ENST00000296980	NM_052962.2	153	aCt/aGt	0	validated		benign	
FAR1		inserm.fr	GRCh37	11	13750222	13750222	+	synonymous_variant	Silent	SNP	T	C	C			BCM275T																					ENST00000354817.3:c.1449T>C	p.Ile483=	p.I483=	ENST00000354817	NM_032228.5	483	atT/atC	0	validated		synonymous	
COL5A1		inserm.fr	GRCh37	9	137713942	137713942	+	splice_acceptor_variant	Splice_Site	SNP	G	C	C			CHC1600T									Valid												ENST00000371817.3:c.4555-1G>C		p.X1519_splice	ENST00000371817	NM_001278074.1			0	validated		possiblydamaging	
COL5A1		inserm.fr	GRCh37	9	137716496	137716496	+	synonymous_variant	Silent	SNP	G	C	C			CHC121T																					ENST00000371817.3:c.4749G>C	p.Thr1583=	p.T1583=	ENST00000371817	NM_001278074.1	1583	acG/acC	0	validated		synonymous	
FCN1		inserm.fr	GRCh37	9	137809647	137809647	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC614T																					ENST00000371806.3:c.71A>G	p.Asn24Ser	p.N24S	ENST00000371806	NM_002003.3	24	aAc/aGc	0	validated		benign	
THSD7B		inserm.fr	GRCh37	2	137852551	137852551	+	synonymous_variant	Silent	SNP	T	C	C			CHC2052T																					ENST00000272643.3:c.1059T>C	p.Arg353=	p.R353=	ENST00000272643		353	cgT/cgC	0	not done		synonymous	
ETF1		inserm.fr	GRCh37	5	137854477	137854477	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC304T																					ENST00000360541.5:c.166T>G	p.Phe56Val	p.F56V	ENST00000360541	NM_004730.3	56	Ttt/Gtt	0	validated		benign	
ARMC8		inserm.fr	GRCh37	3	137942509	137942509	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1191T																					ENST00000481646.1:c.327A>C	p.Glu109Asp	p.E109D	ENST00000481646	NM_015396.4	109	gaA/gaC	0	not done		possiblydamaging	
OLFM1		inserm.fr	GRCh37	9	138012020	138012020	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC798T									Valid												ENST00000252854.4:c.1400T>C	p.Leu467Ser	p.L467S	ENST00000252854	NM_014279.4	467	tTg/tCg	0	validated		probablydamaging	
MCUR1		inserm.fr	GRCh37	6	13814461	13814461	+	synonymous_variant	Silent	SNP	T	C	C			CHC1041T																					ENST00000379170.4:c.201A>G	p.Ser67=	p.S67=	ENST00000379170	NM_001031713.3	67	tcA/tcG	0	validated		synonymous	
MC5R		inserm.fr	GRCh37	18	13826446	13826446	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC902T																					ENST00000324750.3:c.682G>C	p.Ala228Pro	p.A228P	ENST00000324750	NM_005913.2	228	Gcg/Ccg	0	not done		possiblydamaging	
SVOPL		inserm.fr	GRCh37	7	138329548	138329548	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1742T																					ENST00000419765.3:c.703A>G	p.Thr235Ala	p.T235A	ENST00000419765	NM_001139456.1	235	Act/Gct	0	not done		benign	
KIAA1244		inserm.fr	GRCh37	6	138610961	138610961	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC429T																					ENST00000251691.4:c.2903T>C	p.Leu968Pro	p.L968P	ENST00000251691	NM_020340.4	968	cTa/cCa	0	validated		benign	
MCF2		inserm.fr	GRCh37	X	138667259	138667259	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2321T																					ENST00000519895.1:c.2939A>G	p.Tyr980Cys	p.Y980C	ENST00000519895	NM_001171876.1	980	tAt/tGt	0	validated		benign	
MCF2		inserm.fr	GRCh37	X	138708793	138708793	+	synonymous_variant	Silent	SNP	T	C	C			BCM723T																					ENST00000519895.1:c.741A>G	p.Gln247=	p.Q247=	ENST00000519895	NM_001171876.1	247	caA/caG	0	validated		synonymous	
PROB1		inserm.fr	GRCh37	5	138728096	138728096	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM723T																					ENST00000434752.2:c.2675A>G	p.Tyr892Cys	p.Y892C	ENST00000434752	NM_001161546.1	892	tAc/tGc	0	validated		probablydamaging	
NHSL1		inserm.fr	GRCh37	6	138817480	138817480	+	synonymous_variant	Silent	SNP	T	C	C			CHC1774T																					ENST00000427025.2:c.231A>G	p.Arg77=	p.R77=	ENST00000427025	NM_020464.1	77	cgA/cgG	0	validated		synonymous	
CRIPAK		inserm.fr	GRCh37	4	1389125	1389125	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1154T																					ENST00000324803.4:c.826T>C	p.Cys276Arg	p.C276R	ENST00000324803	NM_175918.3	276	Tgt/Cgt	0	validated		possiblydamaging	
UBN2		inserm.fr	GRCh37	7	138944076	138944076	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1611T																					ENST00000473989.3:c.865A>C	p.Lys289Gln	p.K289Q	ENST00000473989	NM_173569.3	289	Aag/Cag	0	not done		benign	
CXXC5		inserm.fr	GRCh37	5	139060831	139060831	+	synonymous_variant	Silent	SNP	T	C	C			CHC2200T																					ENST00000302517.3:c.723T>C	p.Ala241=	p.A241=	ENST00000302517	NM_016463.7	241	gcT/gcC	0	not done		synonymous	
COPB2		inserm.fr	GRCh37	3	139090585	139090585	+	synonymous_variant	Silent	SNP	T	C	C			CHC2321T																					ENST00000333188.5:c.1185A>G	p.Ala395=	p.A395=	ENST00000333188	NM_004766.2	395	gcA/gcG	0	validated		synonymous	
DNAH5		inserm.fr	GRCh37	5	13911529	13911529	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2206T																					ENST00000265104.4:c.1610A>G	p.Tyr537Cys	p.Y537C	ENST00000265104	NM_001369.2	537	tAc/tGc	0	not done		probablydamaging	
ECT2L		inserm.fr	GRCh37	6	139135631	139135631	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1207T																					ENST00000423192.1:c.70T>C	p.Phe24Leu	p.F24L	ENST00000423192		24	Ttt/Ctt	0	not done		probablydamaging	
DNAH5		inserm.fr	GRCh37	5	13914705	13914705	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM321T																					ENST00000265104.4:c.1244A>G	p.Asn415Ser	p.N415S	ENST00000265104	NM_001369.2	415	aAt/aGt	0	validated		probablydamaging	
ECT2L		inserm.fr	GRCh37	6	139186164	139186164	+	synonymous_variant	Silent	SNP	A	C	C			CHC912T																					ENST00000423192.1:c.1323A>C	p.Gly441=	p.G441=	ENST00000423192		441	ggA/ggC	0	validated		synonymous	
ECT2L		inserm.fr	GRCh37	6	139210136	139210136	+	synonymous_variant	Silent	SNP	T	C	C			CHC1720T																					ENST00000423192.1:c.2382T>C	p.His794=	p.H794=	ENST00000423192		794	caT/caC	0	not done		synonymous	
WNT7A		inserm.fr	GRCh37	3	13921276	13921276	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1736T																					ENST00000285018.4:c.38T>G	p.Phe13Cys	p.F13C	ENST00000285018	NM_004625.3	13	tTt/tGt	0	not done		possiblydamaging	
GPSM1		inserm.fr	GRCh37	9	139235606	139235606	+	intron_variant	Intron	SNP	G	C	C			BCM229T																					ENST00000440944.1:c.1207+156G>C		*403*	ENST00000440944	NM_001145638.2			0	validated			
GPSM1		inserm.fr	GRCh37	9	139235606	139235606	+	intron_variant	Intron	SNP	G	C	C			BCM489T																					ENST00000440944.1:c.1207+156G>C		*403*	ENST00000440944	NM_001145638.2			0	validated			
GPSM1		inserm.fr	GRCh37	9	139252606	139252606	+	synonymous_variant	Silent	SNP	G	C	C			CHC891T																					ENST00000440944.1:c.1962G>C	p.Gly654=	p.G654=	ENST00000440944	NM_001145638.2	654	ggG/ggC	0	not done		synonymous	
SDCCAG3		inserm.fr	GRCh37	9	139298618	139298618	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC805T																					ENST00000357365.3:c.1097A>G	p.Asn366Ser	p.N366S	ENST00000357365	NM_001039707.1	366	aAt/aGt	0	not done		probablydamaging	
SPOPL		inserm.fr	GRCh37	2	139316738	139316738	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1028T																					ENST00000280098.4:c.627A>C	p.Gln209His	p.Q209H	ENST00000280098	NM_001001664.2	209	caA/caC	0	not done		benign	
SEC16A		inserm.fr	GRCh37	9	139357527	139357527	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1744T																					ENST00000313050.7:c.4705C>G	p.Leu1569Val	p.L1569V	ENST00000313050	NM_014866.1	1569	Ctt/Gtt	0	not done		probablydamaging	
SEC16A		inserm.fr	GRCh37	9	139358921	139358921	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1207T																					ENST00000313050.7:c.4397A>G	p.Asn1466Ser	p.N1466S	ENST00000313050	NM_014866.1	1466	aAt/aGt	0	not done		probablydamaging	
NOTCH1		inserm.fr	GRCh37	9	139390958	139390958	+	synonymous_variant	Silent	SNP	T	C	C			CHC2216T																					ENST00000277541.6:c.7233A>G	p.Pro2411=	p.P2411=	ENST00000277541	NM_017617.3	2411	ccA/ccG	0	not done		synonymous	
NOTCH1		inserm.fr	GRCh37	9	139390958	139390958	+	synonymous_variant	Silent	SNP	T	C	C			CHC510T																					ENST00000277541.6:c.7233A>G	p.Pro2411=	p.P2411=	ENST00000277541	NM_017617.3	2411	ccA/ccG	0	validated		synonymous	
NOTCH1		inserm.fr	GRCh37	9	139399791	139399791	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1186T																					ENST00000277541.6:c.4557T>G	p.Phe1519Leu	p.F1519L	ENST00000277541	NM_017617.3	1519	ttT/ttG	0	not done		probablydamaging	
NOTCH1		inserm.fr	GRCh37	9	139400202	139400202	+	synonymous_variant	Silent	SNP	T	C	C			CHC314T																					ENST00000277541.6:c.4146A>G	p.Glu1382=	p.E1382=	ENST00000277541	NM_017617.3	1382	gaA/gaG	0	validated		synonymous	
NOTCH1		inserm.fr	GRCh37	9	139413215	139413215	+	synonymous_variant	Silent	SNP	G	C	C			CHC322T																					ENST00000277541.6:c.927C>G	p.Gly309=	p.G309=	ENST00000277541	NM_017617.3	309	ggC/ggG	0	validated		synonymous	
CLSTN2		inserm.fr	GRCh37	3	139654246	139654246	+	synonymous_variant	Silent	SNP	G	C	C			BCB151T																					ENST00000458420.3:c.30G>C	p.Pro10=	p.P10=	ENST00000458420	NM_022131.2	10	ccG/ccC	0	validated		synonymous	
KIAA1984		inserm.fr	GRCh37	9	139702082	139702082	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2127T																					ENST00000338005.6:c.1545G>C	p.Lys515Asn	p.K515N	ENST00000338005	NM_001039374.4	515	aaG/aaC	0	not done		probablydamaging	
RNF182		inserm.fr	GRCh37	6	13977852	13977852	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC909T																					ENST00000488300.1:c.502T>C	p.Trp168Arg	p.W168R	ENST00000488300	NM_152737.3	168	Tgg/Cgg	0	not done		probablydamaging	
COL22A1		inserm.fr	GRCh37	8	139890040	139890040	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB167T																					ENST00000303045.6:c.611A>G	p.Asn204Ser	p.N204S	ENST00000303045	NM_152888.1	204	aAt/aGt	0	validated		probablydamaging	
ANKHD1		inserm.fr	GRCh37	5	139907998	139907998	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM399T																					ENST00000297183.6:c.5467T>C	p.Ser1823Pro	p.S1823P	ENST00000297183	NM_020690.5	1823	Tct/Cct	0	validated		benign	
APBB3		inserm.fr	GRCh37	5	139939978	139939978	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1209T																					ENST00000354402.5:c.1165C>G	p.Arg389Gly	p.R389G	ENST00000354402		389	Cgt/Ggt	0	not done		probablydamaging	
APBB3		inserm.fr	GRCh37	5	139940653	139940653	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC320T																					ENST00000354402.5:c.887A>G	p.Gln296Arg	p.Q296R	ENST00000354402		296	cAg/cGg	0	validated		benign	
APBB3		inserm.fr	GRCh37	5	139943803	139943803	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1192T																					ENST00000354402.5:c.28A>G	p.Ile10Val	p.I10V	ENST00000354402		10	Atc/Gtc	0	not done		probablydamaging	
SAPCD2		inserm.fr	GRCh37	9	139959558	139959558	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM723T																					ENST00000409687.3:c.911A>G	p.Glu304Gly	p.E304G	ENST00000409687	NM_178448.3	304	gAg/gGg	0	validated		probablydamaging	
NDOR1		inserm.fr	GRCh37	9	140110617	140110617	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1545T																					ENST00000371521.4:c.1653G>C	p.Gln551His	p.Q551H	ENST00000371521	NM_001144026.1	551	caG/caC	0	not done		damaging	
TUBB4B		inserm.fr	GRCh37	9	140137207	140137207	+	synonymous_variant	Silent	SNP	G	C	C			CHC1207T																					ENST00000340384.4:c.537G>C	p.Val179=	p.V179=	ENST00000340384	NM_006088.5	179	gtG/gtC	0	validated		synonymous	
FAM166A		inserm.fr	GRCh37	9	140138673	140138673	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000344774.4:c.815A>G	p.His272Arg	p.H272R	ENST00000344774	NM_001001710.1	272	cAc/cGc	0	not done		benign	
NELFB		inserm.fr	GRCh37	9	140160431	140160431	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC1624T																					ENST00000343053.4:c.999G>C	p.Arg333Ser	p.R333S	ENST00000343053	NM_015456.3	333	agG/agC	0	validated		damaging	
PCDHA1		inserm.fr	GRCh37	5	140166793	140166793	+	synonymous_variant	Silent	SNP	T	C	C			BCM337T																					ENST00000504120.2:c.918T>C	p.Asp306=	p.D306=	ENST00000504120	NM_018900.2	306	gaT/gaC	0	validated		synonymous	
TOR4A		inserm.fr	GRCh37	9	140173789	140173789	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1736T																					ENST00000357503.2:c.648G>C	p.Glu216Asp	p.E216D	ENST00000357503	NM_017723.2	216	gaG/gaC	0	not done		probablydamaging	
PCDHA5		inserm.fr	GRCh37	5	140201424	140201424	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1736T																					ENST00000529859.1:c.64T>C	p.Tyr22His	p.Y22H	ENST00000529859	NM_018908.2	22	Tac/Cac	0	not done		benign	
PCDHA5		inserm.fr	GRCh37	5	140203452	140203452	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM723T																					ENST00000529859.1:c.2092T>C	p.Tyr698His	p.Y698H	ENST00000529859	NM_018908.2	698	Tac/Cac	0	validated		probablydamaging	
PCDHB2		inserm.fr	GRCh37	5	140475192	140475192	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1598T																					ENST00000194155.4:c.818T>C	p.Ile273Thr	p.I273T	ENST00000194155	NM_018936.2	273	aTt/aCt	0	not done		benign	
PCDHB3		inserm.fr	GRCh37	5	140481351	140481351	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM723T																					ENST00000231130.2:c.1118T>C	p.Leu373Pro	p.L373P	ENST00000231130	NM_018937.2	373	cTa/cCa	0	validated		benign	
PCDHB6		inserm.fr	GRCh37	5	140531122	140531122	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC912T									Valid												ENST00000231136.1:c.1284G>C	p.Arg428Ser	p.R428S	ENST00000231136	NM_018939.2	428	agG/agC	0	validated		probablydamaging	
PCDHB16		inserm.fr	GRCh37	5	140562800	140562800	+	synonymous_variant	Silent	SNP	A	C	C			CHC2034T																					ENST00000361016.2:c.666A>C	p.Arg222=	p.R222=	ENST00000361016	NM_020957.1	222	cgA/cgC	0	not done		synonymous	
PCDHB9		inserm.fr	GRCh37	5	140567217	140567217	+	non_coding_transcript_exon_variant	RNA	SNP	T	C	C			CHC301T																					ENST00000316105.4:n.325T>C		*109*	ENST00000316105				0	validated		synonymous	
PCDHB10		inserm.fr	GRCh37	5	140573352	140573352	+	synonymous_variant	Silent	SNP	G	C	C			CHC429T																					ENST00000239446.4:c.1227G>C	p.Leu409=	p.L409=	ENST00000239446	NM_018930.3	409	ctG/ctC	0	validated		synonymous	
PCDHB12		inserm.fr	GRCh37	5	140589667	140589667	+	synonymous_variant	Silent	SNP	G	C	C			BCB109T																					ENST00000239450.2:c.1188G>C	p.Ser396=	p.S396=	ENST00000239450	NM_018932.3	396	tcG/tcC	0	validated		synonymous	
PRDM2		inserm.fr	GRCh37	1	14059289	14059289	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC805T																					ENST00000235372.7:c.143A>C	p.Lys48Thr	p.K48T	ENST00000235372	NM_012231.4	48	aAa/aCa	0	not done		probablydamaging	
PCDHB15		inserm.fr	GRCh37	5	140626790	140626790	+	synonymous_variant	Silent	SNP	A	C	C			CHC1154T																					ENST00000231173.3:c.1644A>C	p.Arg548=	p.R548=	ENST00000231173	NM_018935.2	548	cgA/cgC	0	validated		synonymous	
TAF7		inserm.fr	GRCh37	5	140698873	140698873	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC433T																					ENST00000313368.5:c.739A>G	p.Ile247Val	p.I247V	ENST00000313368	NM_005642.2	247	Att/Gtt	0	validated		benign	
PCDHGA1		inserm.fr	GRCh37	5	140710886	140710886	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM711T																					ENST00000517417.1:c.635T>C	p.Leu212Pro	p.L212P	ENST00000517417	NM_018912.2	212	cTc/cCc	0	validated		probablydamaging	
PCDHGA3		inserm.fr	GRCh37	5	140726006	140726006	+	synonymous_variant	Silent	SNP	A	C	C			CHC1600T																					ENST00000253812.6:c.2406A>C	p.Gly802=	p.G802=	ENST00000253812	NM_018916.3	802	ggA/ggC	0	not done		synonymous	
PCDHGA7		inserm.fr	GRCh37	5	140764008	140764008	+	synonymous_variant	Silent	SNP	G	C	C			CHC1061T																					ENST00000518325.1:c.1542G>C	p.Leu514=	p.L514=	ENST00000518325	NM_018920.2	514	ctG/ctC	0	validated		synonymous	
PCDHGA9		inserm.fr	GRCh37	5	140783243	140783243	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1602T																					ENST00000573521.1:c.724T>C	p.Phe242Leu	p.F242L	ENST00000573521	NM_018921.2	242	Ttt/Ctt	0	not done		probablydamaging	
PCDHGB6		inserm.fr	GRCh37	5	140788413	140788413	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC051T																					ENST00000520790.1:c.644T>C	p.Leu215Ser	p.L215S	ENST00000520790	NM_018926.2	215	tTg/tCg	0	validated		benign	
PCDHGA10		inserm.fr	GRCh37	5	140792781	140792781	+	synonymous_variant	Silent	SNP	T	C	C			BCM375T																					ENST00000398610.2:c.39T>C	p.Asp13=	p.D13=	ENST00000398610	NM_018913.2	13	gaT/gaC	0	validated		synonymous	
PCDHGA11		inserm.fr	GRCh37	5	140801991	140801991	+	synonymous_variant	Silent	SNP	T	C	C			BCB111T																					ENST00000398587.2:c.1197T>C	p.Tyr399=	p.Y399=	ENST00000398587	NM_032092.1	399	taT/taC	0	validated		synonymous	
DIAPH1		inserm.fr	GRCh37	5	140905618	140905618	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC898T																					ENST00000398557.4:c.3561A>G	p.Ile1187Met	p.I1187M	ENST00000398557	NM_005219.4	1187	atA/atG	0	not done		possiblydamaging	
CACNA1B		inserm.fr	GRCh37	9	140917904	140917904	+	synonymous_variant	Silent	SNP	G	C	C			CHC451T																					ENST00000371372.1:c.2709G>C	p.Arg903=	p.R903=	ENST00000371372	NM_001243812.1	903	cgG/cgC	0	validated		synonymous	
PRDM2		inserm.fr	GRCh37	1	14099572	14099572	+	splice_acceptor_variant	Splice_Site	SNP	G	C	C			BCM439T									Valid												ENST00000235372.7:c.512-1G>C		p.X171_splice	ENST00000235372	NM_012231.4			0	validated		damaging	
PRDM2		inserm.fr	GRCh37	1	14106448	14106448	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1717T																					ENST00000235372.7:c.2158T>C	p.Ser720Pro	p.S720P	ENST00000235372	NM_012231.4	720	Tct/Cct	0	not done		probablydamaging	
SCOC		inserm.fr	GRCh37	4	141294703	141294703	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM483T																					ENST00000608372.1:c.13G>C	p.Val5Leu	p.V5L	ENST00000608372		5	Gta/Cta	0	validated		benign	
CLGN		inserm.fr	GRCh37	4	141311797	141311797	+	synonymous_variant	Silent	SNP	A	C	C			CHC1191T																					ENST00000325617.5:c.1737T>G	p.Ser579=	p.S579=	ENST00000325617	NM_004362.2	579	tcT/tcG	0	not done		synonymous	
RASA2		inserm.fr	GRCh37	3	141327329	141327329	+	splice_acceptor_variant	Splice_Site	SNP	A	C	C			CHC2115T																					ENST00000286364.3:c.2017-2A>C		p.X673_splice	ENST00000286364				0	not done		damaging	
UCP1		inserm.fr	GRCh37	4	141481123	141481123	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM321T																					ENST00000262999.3:c.851T>G	p.Ile284Ser	p.I284S	ENST00000262999	NM_021833.4	284	aTt/aGt	0	validated		possiblydamaging	
IL27RA		inserm.fr	GRCh37	19	14150665	14150665	+	synonymous_variant	Silent	SNP	T	C	C			CHC1717T																					ENST00000263379.2:c.477T>C	p.His159=	p.H159=	ENST00000263379	NM_004843.3	159	caT/caC	0	not done		synonymous	
TBC1D9		inserm.fr	GRCh37	4	141549507	141549507	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM711T																					ENST00000442267.2:c.2759A>G	p.His920Arg	p.H920R	ENST00000442267	NM_015130.2	920	cAt/cGt	0	validated		probablydamaging	
TBC1D9		inserm.fr	GRCh37	4	141600919	141600919	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC892T																					ENST00000442267.2:c.439A>G	p.Lys147Glu	p.K147E	ENST00000442267	NM_015130.2	147	Aaa/Gaa	0	not done		probablydamaging	
LRP1B		inserm.fr	GRCh37	2	141607771	141607771	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1704T																					ENST00000389484.3:c.4839C>G	p.Phe1613Leu	p.F1613L	ENST00000389484	NM_018557.2	1613	ttC/ttG	0	not done		possiblydamaging	
ATP1B3		inserm.fr	GRCh37	3	141632510	141632510	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC793T									Valid												ENST00000286371.3:c.363A>C	p.Glu121Asp	p.E121D	ENST00000286371	NM_001679.2	121	gaA/gaC	0	validated		possiblydamaging	
TAS2R38		inserm.fr	GRCh37	7	141672976	141672976	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM423T																					ENST00000547270.1:c.514A>G	p.Thr172Ala	p.T172A	ENST00000547270	NM_176817.4	172	Act/Gct	0	validated		probablydamaging	
PTK2		inserm.fr	GRCh37	8	141756938	141756938	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC798T									Valid												ENST00000340930.3:c.1439A>G	p.His480Arg	p.H480R	ENST00000340930	NM_001199649.1	480	cAt/cGt	0	validated		probablydamaging	
LOC113230		inserm.fr	GRCh37	19	14183906	14183906	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1704T																					ENST00000269720.2:c.211G>C	p.Ala71Pro	p.A71P	ENST00000269720		71	Gca/Cca	0	not done			
XRN1		inserm.fr	GRCh37	3	142030381	142030381	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1741T																					ENST00000264951.4:c.5093A>G	p.Asn1698Ser	p.N1698S	ENST00000264951	NM_019001.3	1698	aAt/aGt	0	not done		possiblydamaging	
XPC		inserm.fr	GRCh37	3	14207001	14207001	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC313T																					ENST00000285021.7:c.706A>G	p.Ile236Val	p.I236V	ENST00000285021	NM_004628.4	236	Atc/Gtc	0	validated		possiblydamaging	
XRN1		inserm.fr	GRCh37	3	142094744	142094744	+	synonymous_variant	Silent	SNP	T	C	C			CHC1744T																					ENST00000264951.4:c.2874A>G	p.Lys958=	p.K958=	ENST00000264951	NM_019001.3	958	aaA/aaG	0	not done		synonymous	
XRN1		inserm.fr	GRCh37	3	142102174	142102174	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM531T																					ENST00000264951.4:c.2584C>G	p.Leu862Val	p.L862V	ENST00000264951	NM_019001.3	862	Ctg/Gtg	0	validated		benign	
XRN1		inserm.fr	GRCh37	3	142151648	142151648	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2208T																					ENST00000264951.4:c.163A>G	p.Ile55Val	p.I55V	ENST00000264951	NM_019001.3	55	Att/Gtt	0	not done		possiblydamaging	
ATR		inserm.fr	GRCh37	3	142254963	142254963	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC197T									Valid												ENST00000350721.4:c.3806A>G	p.Gln1269Arg	p.Q1269R	ENST00000350721	NM_001184.3	1269	cAg/cGg	0	validated		benign	
SLC45A4		inserm.fr	GRCh37	8	142264818	142264818	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1569T																					ENST00000518520.1:c.95T>C	p.Val32Ala	p.V32A	ENST00000518520		32	gTg/gCg	0	not done			
GPR20		inserm.fr	GRCh37	8	142367003	142367003	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1148T																					ENST00000377741.3:c.1021C>G	p.Leu341Val	p.L341V	ENST00000377741	NM_005293.2	341	Ctc/Gtc	0	not done		benign	
PCOLCE2		inserm.fr	GRCh37	3	142539771	142539771	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC902T																					ENST00000295992.3:c.1066A>G	p.Met356Val	p.M356V	ENST00000295992	NM_013363.3	356	Atg/Gtg	0	not done		benign	
KEL		inserm.fr	GRCh37	7	142640062	142640062	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1708T																					ENST00000355265.2:c.1841A>G	p.His614Arg	p.H614R	ENST00000355265	NM_000420.2	614	cAt/cGt	0	not done		benign	
PAQR9		inserm.fr	GRCh37	3	142681427	142681427	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2216T																					ENST00000340634.3:c.752T>G	p.Leu251Arg	p.L251R	ENST00000340634	NM_198504.2	251	cTc/cGc	0	not done		probablydamaging	
SPON1		inserm.fr	GRCh37	11	14278222	14278222	+	non_coding_transcript_exon_variant	RNA	SNP	A	C	C			CHC917T																					ENST00000310358.7:n.1828A>C		*610*	ENST00000310358				0	validated			
CHST2		inserm.fr	GRCh37	3	142840095	142840095	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1040T																					ENST00000309575.3:c.437T>C	p.Val146Ala	p.V146A	ENST00000309575	NM_004267.4	146	gTt/gCt	0	not done		benign	
FLRT3		inserm.fr	GRCh37	20	14306633	14306633	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1731T																					ENST00000378053.3:c.1520A>G	p.Tyr507Cys	p.Y507C	ENST00000378053	NM_013281.3	507	tAc/tGc	0	not done		possiblydamaging	
SLC9A9		inserm.fr	GRCh37	3	143082381	143082381	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC433T																					ENST00000316549.6:c.1549A>G	p.Met517Val	p.M517V	ENST00000316549	NM_173653.3	517	Atg/Gtg	0	validated		benign	
TSNARE1		inserm.fr	GRCh37	8	143365819	143365819	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC320T																					ENST00000307180.3:c.1318A>G	p.Ile440Val	p.I440V	ENST00000307180	NM_145003.3	440	Atc/Gtc	0	validated		benign	
TRIO		inserm.fr	GRCh37	5	14336772	14336772	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1040T																					ENST00000344204.4:c.1982G>C	p.Arg661Pro	p.R661P	ENST00000344204	NM_007118.2	661	cGg/cCg	0	not done		probablydamaging	
DGKB		inserm.fr	GRCh37	7	14378298	14378298	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC306T									Valid												ENST00000403951.2:c.1967T>G	p.Leu656Arg	p.L656R	ENST00000403951		656	cTg/cGg	0	validated		probablydamaging	
OR2A14		inserm.fr	GRCh37	7	143826960	143826960	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC793T									Valid												ENST00000408899.2:c.755G>C	p.Gly252Ala	p.G252A	ENST00000408899	NM_001001659.1	252	gGc/gCc	0	validated		probablydamaging	
LYPD2		inserm.fr	GRCh37	8	143832553	143832553	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1725T																					ENST00000359228.3:c.94A>G	p.Thr32Ala	p.T32A	ENST00000359228	NM_205545.1	32	Aca/Gca	0	not done		probablydamaging	
GAB1		inserm.fr	GRCh37	4	144354774	144354774	+	synonymous_variant	Silent	SNP	T	C	C			CHC1192T																					ENST00000262995.4:c.498T>C	p.Asn166=	p.N166=	ENST00000262995	NM_207123.2	166	aaT/aaC	0	not done		synonymous	
GLI4		inserm.fr	GRCh37	8	144358777	144358777	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC307T																					ENST00000340042.1:c.934G>C	p.Glu312Gln	p.E312Q	ENST00000340042	NM_138465.3	312	Gag/Cag	0	validated		probablydamaging	
TIGD5		inserm.fr	GRCh37	8	144681330	144681330	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC798T																					ENST00000504548.2:c.1257G>C	p.Gln419His	p.Q419H	ENST00000504548	NM_032862.4	419	caG/caC	0	validated		benign	
FAM83H		inserm.fr	GRCh37	8	144808478	144808478	+	synonymous_variant	Silent	SNP	G	C	C			CHC909T																					ENST00000388913.3:c.3153C>G	p.Gly1051=	p.G1051=	ENST00000388913	NM_198488.3	1051	ggC/ggG	0	not done		synonymous	
PDE4DIP		inserm.fr	GRCh37	1	144874795	144874795	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1183T																					ENST00000369356.4:c.4813C>G	p.Arg1605Gly	p.R1605G	ENST00000369356	NM_014644.5	1605	Cgc/Ggc	0	not done		probablydamaging	
SCRIB		inserm.fr	GRCh37	8	144895033	144895033	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1595T									Valid												ENST00000356994.2:c.741C>G	p.Asp247Glu	p.D247E	ENST00000356994	NM_182706.4	247	gaC/gaG	0	validated		probablydamaging	
GTDC1		inserm.fr	GRCh37	2	144903141	144903141	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	C	C			CHC923T																					ENST00000392869.2:c.345A>G	p.Ser115=	p.S115=	ENST00000392869	NM_001284234.1	115	tcA/tcG	0	not done		synonymous	
PDE4DIP		inserm.fr	GRCh37	1	144930757	144930757	+	intron_variant	Intron	SNP	T	C	C			CHC437T																					ENST00000369356.4:c.637-6936A>G		*213*	ENST00000369356	NM_014644.5			0	not done			
PLEC		inserm.fr	GRCh37	8	145016615	145016615	+	intron_variant	Intron	SNP	G	C	C			BCM265T																					ENST00000322810.4:c.524-3755C>G		*175*	ENST00000322810	NM_201380.2			0	validated			
SHARPIN		inserm.fr	GRCh37	8	145158463	145158463	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1539T																					ENST00000398712.2:c.194C>G	p.Pro65Arg	p.P65R	ENST00000398712	NM_030974.3	65	cCt/cGt	0	validated		probablydamaging	
LARS		inserm.fr	GRCh37	5	145547739	145547739	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC736T																					ENST00000394434.2:c.384T>G	p.Ser128Arg	p.S128R	ENST00000394434	NM_020117.9	128	agT/agG	0	validated		benign	
CPSF1		inserm.fr	GRCh37	8	145622746	145622746	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2141T																					ENST00000349769.3:c.2341C>G	p.Pro781Ala	p.P781A	ENST00000349769	NM_013291.2	781	Cct/Gct	0	not done		possiblydamaging	
ARHGAP39		inserm.fr	GRCh37	8	145772595	145772595	+	synonymous_variant	Silent	SNP	T	C	C			CHC1053T																					ENST00000377307.2:c.1875A>G	p.Leu625=	p.L625=	ENST00000377307	NM_025251.1	625	ctA/ctG	0	validated		synonymous	
PLOD2		inserm.fr	GRCh37	3	145788621	145788621	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC736T									Valid												ENST00000282903.5:c.2160T>G	p.Ile720Met	p.I720M	ENST00000282903	NM_182943.2	720	atT/atG	0	validated		probablydamaging	
ZNF34		inserm.fr	GRCh37	8	145999872	145999872	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM617T																					ENST00000343459.4:c.462C>G	p.Ser154Arg	p.S154R	ENST00000343459		154	agC/agG	0	validated		benign	
NBPF11		inserm.fr	GRCh37	1	146039133	146039133	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC798T																					ENST00000605317.1:c.2045A>G	p.Glu682Gly	p.E682G	ENST00000605317	NM_183372.4	682	gAg/gGg	0	validated		benign	
OTUD4		inserm.fr	GRCh37	4	146058974	146058974	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC909T																					ENST00000454497.2:c.2758A>G	p.Ile920Val	p.I920V	ENST00000454497	NM_001102653.1	920	Att/Gtt	0	not done		benign	
OTUD4		inserm.fr	GRCh37	4	146062744	146062744	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC197T									Valid												ENST00000454497.2:c.1675A>G	p.Thr559Ala	p.T559A	ENST00000454497	NM_001102653.1	559	Act/Gct	0	validated		possiblydamaging	
COMMD5		inserm.fr	GRCh37	8	146076272	146076272	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM339T																					ENST00000450361.2:c.452A>G	p.His151Arg	p.H151R	ENST00000450361	NM_001081003.2	151	cAt/cGt	0	validated		benign	
SHPRH		inserm.fr	GRCh37	6	146262886	146262886	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM337T																					ENST00000367505.2:c.2363A>G	p.Asn788Ser	p.N788S	ENST00000367505		788	aAt/aGt	0	validated		benign	
ATF7IP		inserm.fr	GRCh37	12	14634007	14634007	+	synonymous_variant	Silent	SNP	T	C	C			CHC794T																					ENST00000261168.4:c.3168T>C	p.Ala1056=	p.A1056=	ENST00000261168	NM_018179.3	1056	gcT/gcC	0	validated		synonymous	
ZNF827		inserm.fr	GRCh37	4	146824286	146824286	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC884T									Valid												ENST00000379448.4:c.125A>G	p.Glu42Gly	p.E42G	ENST00000379448	NM_178835.3	42	gAa/gGa	0	validated		probablydamaging	
ZNF827		inserm.fr	GRCh37	4	146824313	146824313	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB231T																					ENST00000379448.4:c.98A>G	p.Tyr33Cys	p.Y33C	ENST00000379448	NM_178835.3	33	tAt/tGt	0	validated		possiblydamaging	
JAKMIP2		inserm.fr	GRCh37	5	147020316	147020316	+	stop_gained	Nonsense_Mutation	SNP	G	C	C			CHC1154T																					ENST00000265272.5:c.1352C>G	p.Ser451Ter	p.S451*	ENST00000265272	NM_014790.4	451	tCa/tGa	0	not done		damaging	
UQCC4		inserm.fr	GRCh37	16	1470533	1470533	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1749T																					ENST00000310355.1:c.584C>G	p.Pro195Arg	p.P195R	ENST00000310355		195	cCt/cGt	0	not done		probablydamaging	
LSM6		inserm.fr	GRCh37	4	147104160	147104160	+	synonymous_variant	Silent	SNP	T	C	C			CHC2029T																					ENST00000502781.1:c.87T>C	p.Asp29=	p.D29=	ENST00000502781		29	gaT/gaC	0	not done		synonymous	
SPINK1		inserm.fr	GRCh37	5	147204261	147204261	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM265T									Valid												ENST00000296695.5:c.203A>G	p.Gln68Arg	p.Q68R	ENST00000296695	NM_003122.3	68	cAg/cGg	0	validated		possiblydamaging	
SCGB3A2		inserm.fr	GRCh37	5	147261069	147261069	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB307T									Valid												ENST00000296694.4:c.116T>C	p.Leu39Pro	p.L39P	ENST00000296694	NM_054023.4	39	cTg/cCg	0	validated		possiblydamaging	
ANKRD30B		inserm.fr	GRCh37	18	14752652	14752652	+	synonymous_variant	Silent	SNP	T	C	C			CHC1191T																					ENST00000358984.4:c.309T>C	p.Asp103=	p.D103=	ENST00000358984	NM_001145029.1	103	gaT/gaC	0	not done		synonymous	
STXBP5		inserm.fr	GRCh37	6	147636671	147636671	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1545T																					ENST00000321680.6:c.1423A>C	p.Lys475Gln	p.K475Q	ENST00000321680	NM_001127715.2	475	Aag/Cag	0	not done		probablydamaging	
MICALL2		inserm.fr	GRCh37	7	1476494	1476494	+	splice_acceptor_variant	Splice_Site	SNP	T	C	C			CHC902T																					ENST00000297508.7:c.2477-2A>G		p.X826_splice	ENST00000297508	NM_182924.3			0	not done		damaging	
FREM1		inserm.fr	GRCh37	9	14770651	14770651	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC794T									Valid												ENST00000422223.2:c.5011A>G	p.Lys1671Glu	p.K1671E	ENST00000422223	NM_144966.5	1671	Aaa/Gaa	0	validated		possiblydamaging	
FBXO38		inserm.fr	GRCh37	5	147817986	147817986	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM711T																					ENST00000394370.3:c.2724G>C	p.Met908Ile	p.M908I	ENST00000394370		908	atG/atC	0	validated		probablydamaging	
MICALL2		inserm.fr	GRCh37	7	1478614	1478614	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1209T																					ENST00000297508.7:c.1984C>G	p.Pro662Ala	p.P662A	ENST00000297508	NM_182924.3	662	Ccc/Gcc	0	validated		benign	
EZH2		inserm.fr	GRCh37	7	148507430	148507430	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC051T									Valid												ENST00000320356.2:c.2024A>G	p.Asn675Ser	p.N675S	ENST00000320356	NM_004456.4	675	aAc/aGc	0	validated		probablydamaging	
IDS		inserm.fr	GRCh37	X	148568830	148568830	+	intron_variant	Intron	SNP	T	C	C			CHC2052T																					ENST00000340855.6:c.1007-201A>G		*336*	ENST00000340855	NM_001166550.1			0	not done			
PRMT10		inserm.fr	GRCh37	4	148575615	148575615	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2351T																					ENST00000322396.6:c.1433T>G	p.Met478Arg	p.M478R	ENST00000322396	NM_138364.2	478	aTg/aGg	0	not done		benign	
SASH1		inserm.fr	GRCh37	6	148664260	148664260	+	synonymous_variant	Silent	SNP	G	C	C			CHC1745T																					ENST00000367467.3:c.57G>C	p.Pro19=	p.P19=	ENST00000367467	NM_015278.3	19	ccG/ccC	0	not done		synonymous	
ZNF425		inserm.fr	GRCh37	7	148801985	148801985	+	synonymous_variant	Silent	SNP	T	C	C			CHC1152T																					ENST00000378061.2:c.978A>G	p.Gly326=	p.G326=	ENST00000378061	NM_001001661.2	326	ggA/ggG	0	not done		synonymous	
PDE3B		inserm.fr	GRCh37	11	14882793	14882793	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC793T									Valid												ENST00000282096.4:c.2767A>C	p.Asn923His	p.N923H	ENST00000282096	NM_000922.3	923	Aat/Cat	0	validated		probablydamaging	
CSNK1A1		inserm.fr	GRCh37	5	148904626	148904626	+	synonymous_variant	Silent	SNP	T	C	C			CHC1751T																					ENST00000515768.1:c.339A>G	p.Val113=	p.V113=	ENST00000515768		113	gtA/gtG	0	not done		synonymous	
CP		inserm.fr	GRCh37	3	148924049	148924049	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1148T																					ENST00000264613.6:c.1114A>G	p.Arg372Gly	p.R372G	ENST00000264613	NM_000096.3	372	Aga/Gga	0	not done		possiblydamaging	
HSPA14		inserm.fr	GRCh37	10	14894375	14894375	+	synonymous_variant	Silent	SNP	T	C	C			CHC1756T																					ENST00000378372.3:c.579T>C	p.Ile193=	p.I193=	ENST00000378372	NM_016299.3	193	atT/atC	0	not done		synonymous	
NR3C2		inserm.fr	GRCh37	4	149073647	149073647	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1566T																					ENST00000358102.3:c.2483A>G	p.Tyr828Cys	p.Y828C	ENST00000358102	NM_001166104.1	828	tAt/tGt	0	not done		probablydamaging	
NR3C2		inserm.fr	GRCh37	4	149075935	149075935	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC306T									Valid												ENST00000358102.3:c.2132T>G	p.Ile711Ser	p.I711S	ENST00000358102	NM_001166104.1	711	aTc/aGc	0	validated		probablydamaging	
NR3C2		inserm.fr	GRCh37	4	149356442	149356442	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1154T																					ENST00000358102.3:c.1571A>G	p.His524Arg	p.H524R	ENST00000358102	NM_001166104.1	524	cAc/cGc	0	not done		probablydamaging	
SSPO		inserm.fr	GRCh37	7	149485558	149485558	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	G	C	C			CHC1743T																					ENST00000378016.2:n.3964G>C		p.X1322_splice	ENST00000378016				0	not done		damaging	
PDGFRB		inserm.fr	GRCh37	5	149501453	149501453	+	stop_gained	Nonsense_Mutation	SNP	G	C	C			CHC898T																					ENST00000261799.4:c.2334C>G	p.Tyr778Ter	p.Y778*	ENST00000261799	NM_002609.3	778	taC/taG	0	not done		damaging	
EPC2		inserm.fr	GRCh37	2	149522644	149522644	+	synonymous_variant	Silent	SNP	T	C	C			CHC1915T																					ENST00000258484.6:c.1069T>C	p.Leu357=	p.L357=	ENST00000258484	NM_015630.3	357	Ttg/Ctg	0	validated		synonymous	
CAMK2A		inserm.fr	GRCh37	5	149629787	149629787	+	splice_donor_variant	Splice_Site	SNP	A	C	C			BCM735T																					ENST00000398376.3:c.900+2T>G		p.X300_splice	ENST00000398376				0	validated		damaging	
RNF13		inserm.fr	GRCh37	3	149677886	149677886	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2216T																					ENST00000344229.3:c.744A>C	p.Glu248Asp	p.E248D	ENST00000344229	NM_007282.4	248	gaA/gaC	0	not done		possiblydamaging	
TAB2		inserm.fr	GRCh37	6	149700257	149700257	+	synonymous_variant	Silent	SNP	G	C	C			CHC1704T																					ENST00000367456.1:c.1206G>C	p.Arg402=	p.R402=	ENST00000367456		402	cgG/cgC	0	not done		synonymous	
MTM1		inserm.fr	GRCh37	X	149767150	149767150	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	C	C			CHC1749T																					ENST00000370396.2:c.231G>C	p.Thr77=	p.T77=	ENST00000370396	NM_000252.2	77	acG/acC	0	not done		damaging	
TCOF1		inserm.fr	GRCh37	5	149773058	149773058	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1148T																					ENST00000504761.2:c.3724G>C	p.Asp1242His	p.D1242H	ENST00000504761		1242	Gat/Cat	0	not done		possiblydamaging	
KIF5C		inserm.fr	GRCh37	2	149837993	149837993	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM545T									Valid												ENST00000435030.1:c.1487T>C	p.Val496Ala	p.V496A	ENST00000435030		496	gTc/gCc	0	validated		possiblydamaging	
NDST1		inserm.fr	GRCh37	5	149907406	149907406	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1566T																					ENST00000261797.6:c.554T>C	p.Phe185Ser	p.F185S	ENST00000261797	NM_001543.4	185	tTc/tCc	0	not done		probablydamaging	
OR7A17		inserm.fr	GRCh37	19	14991911	14991911	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC303T																					ENST00000327462.2:c.257A>G	p.Gln86Arg	p.Q86R	ENST00000327462	NM_030901.1	86	cAg/cGg	0	validated		benign	
KATNA1		inserm.fr	GRCh37	6	149922743	149922743	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1531T																					ENST00000367411.2:c.875T>G	p.Leu292Arg	p.L292R	ENST00000367411	NM_007044.3	292	cTt/cGt	0	not done		probablydamaging	
ACTR3C		inserm.fr	GRCh37	7	149990455	149990455	+	synonymous_variant	Silent	SNP	T	C	C			CHC1207T																					ENST00000539352.1:c.99A>G	p.Thr33=	p.T33=	ENST00000539352	NM_001164458.1	33	acA/acG	0	not done		synonymous	
SYNPO		inserm.fr	GRCh37	5	150029037	150029037	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1743T																					ENST00000394243.1:c.1932G>C	p.Gln644His	p.Q644H	ENST00000394243	NM_001166208.1	644	caG/caC	0	not done		probablydamaging	
MYOZ3		inserm.fr	GRCh37	5	150050103	150050103	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2321T																					ENST00000297130.4:c.119A>C	p.Glu40Ala	p.E40A	ENST00000297130	NM_133371.4	40	gAg/gCg	0	validated		probablydamaging	
DDX3Y		inserm.fr	GRCh37	Y	15028344	15028344	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC320T									Valid												ENST00000336079.3:c.1481T>C	p.Val494Ala	p.V494A	ENST00000336079	NM_001122665.1	494	gTg/gCg	0	validated		probablydamaging	
LYPD6		inserm.fr	GRCh37	2	150325257	150325257	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1148T																					ENST00000334166.4:c.316G>C	p.Gly106Arg	p.G106R	ENST00000334166	NM_194317.3	106	Ggc/Cgc	0	not done		probablydamaging	
GPR50		inserm.fr	GRCh37	X	150349165	150349165	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1742T																					ENST00000218316.3:c.1110A>C	p.Leu370Phe	p.L370F	ENST00000218316	NM_004224.3	370	ttA/ttC	0	not done		probablydamaging	
GIMAP1		inserm.fr	GRCh37	7	150417947	150417947	+	synonymous_variant	Silent	SNP	G	C	C			CHC2358T																					ENST00000307194.5:c.855G>C	p.Ala285=	p.A285=	ENST00000307194	NM_130759.3	285	gcG/gcC	0	validated		synonymous	
FAM194A		inserm.fr	GRCh37	3	150421671	150421671	+	synonymous_variant	Silent	SNP	G	C	C			CHC301T																					ENST00000295910.6:c.15C>G	p.Arg5=	p.R5=	ENST00000295910	NM_152394.3	5	cgC/cgG	0	validated		synonymous	
ANXA6		inserm.fr	GRCh37	5	150483156	150483156	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM543T																					ENST00000354546.5:c.1937A>G	p.Asp646Gly	p.D646G	ENST00000354546	NM_001155.4	646	gAc/gGc	0	validated		probablydamaging	
CLRN1		inserm.fr	GRCh37	3	150661653	150661653	+	intron_variant	Intron	SNP	T	C	C			CHC2127T																					ENST00000328863.4:c.254-2105A>G		*85*	ENST00000328863	NM_001195794.1			0	not done			
NOS3		inserm.fr	GRCh37	7	150698935	150698935	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC465T									Valid												ENST00000297494.3:c.1529T>C	p.Met510Thr	p.M510T	ENST00000297494	NM_000603.4	510	aTg/aCg	0	validated		possiblydamaging	
SLC1A6		inserm.fr	GRCh37	19	15073151	15073151	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM371T																					ENST00000221742.3:c.598A>G	p.Thr200Ala	p.T200A	ENST00000221742	NM_005071.2	200	Acg/Gcg	0	validated		possiblydamaging	
SLC36A1		inserm.fr	GRCh37	5	150856266	150856266	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC912T																					ENST00000243389.3:c.938A>C	p.Gln313Pro	p.Q313P	ENST00000243389	NM_078483.2	313	cAa/cCa	0	validated		benign	
GBX1		inserm.fr	GRCh37	7	150864115	150864115	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1602T																					ENST00000297537.4:c.521C>G	p.Thr174Ser	p.T174S	ENST00000297537	NM_001098834.1	174	aCt/aGt	0	not done		possiblydamaging	
FAT2		inserm.fr	GRCh37	5	150911264	150911264	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1211T																					ENST00000261800.5:c.9695C>G	p.Pro3232Arg	p.P3232R	ENST00000261800	NM_001447.2	3232	cCa/cGa	0	not done		benign	
CNGA2		inserm.fr	GRCh37	X	150912487	150912487	+	synonymous_variant	Silent	SNP	T	C	C			CHC433T																					ENST00000329903.4:c.1512T>C	p.Asp504=	p.D504=	ENST00000329903	NM_005140.1	504	gaT/gaC	0	validated		synonymous	
FAT2		inserm.fr	GRCh37	5	150925669	150925669	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1725T																					ENST00000261800.5:c.5019C>G	p.Ile1673Met	p.I1673M	ENST00000261800	NM_001447.2	1673	atC/atG	0	not done		benign	
CHPF2		inserm.fr	GRCh37	7	150935560	150935560	+	synonymous_variant	Silent	SNP	G	C	C			CHC898T																					ENST00000035307.2:c.2112G>C	p.Val704=	p.V704=	ENST00000035307	NM_019015.1	704	gtG/gtC	0	not done		synonymous	
PRUNE		inserm.fr	GRCh37	1	151001422	151001422	+	splice_donor_variant	Splice_Site	SNP	T	C	C			CHC1598T																					ENST00000271620.3:c.933+2T>C		p.X311_splice	ENST00000271620	NM_021222.1			0	not done		possiblydamaging	
MED12L		inserm.fr	GRCh37	3	151097915	151097915	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC097T																					ENST00000474524.1:c.4388G>C	p.Ser1463Thr	p.S1463T	ENST00000474524	NM_053002.4	1463	aGt/aCt	0	not done		possiblydamaging	
SEMA6C		inserm.fr	GRCh37	1	151105974	151105974	+	synonymous_variant	Silent	SNP	G	C	C			CHC609T																					ENST00000368913.3:c.1875C>G	p.Pro625=	p.P625=	ENST00000368913	NM_001178061.1	625	ccC/ccG	0	validated		synonymous	
SEMA6C		inserm.fr	GRCh37	1	151108491	151108491	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2029T																					ENST00000368913.3:c.1255A>G	p.Ser419Gly	p.S419G	ENST00000368913	NM_001178061.1	419	Agc/Ggc	0	not done		benign	
DCLK2		inserm.fr	GRCh37	4	151114340	151114340	+	synonymous_variant	Silent	SNP	T	C	C			CHC1715T																					ENST00000302176.8:c.807T>C	p.Cys269=	p.C269=	ENST00000302176	NM_001040261.4	269	tgT/tgC	0	not done		synonymous	
IGSF10		inserm.fr	GRCh37	3	151171531	151171531	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC794T																					ENST00000282466.3:c.356A>G	p.Lys119Arg	p.K119R	ENST00000282466	NM_178822.4	119	aAa/aGa	0	validated		benign	
ZNF687		inserm.fr	GRCh37	1	151261857	151261857	+	synonymous_variant	Silent	SNP	G	C	C			CHC434T																					ENST00000324048.5:c.2475G>C	p.Leu825=	p.L825=	ENST00000324048		825	ctG/ctC	0	validated		synonymous	
MAGEA5P		inserm.fr	GRCh37	X	151283785	151283785	+	non_coding_transcript_exon_variant	RNA	SNP	A	C	C			CHC469T																					ENST00000427663.2:n.433T>G		*145*	ENST00000427663				0	validated		benign	
SELENBP1		inserm.fr	GRCh37	1	151338097	151338097	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM543T																					ENST00000368868.5:c.986A>G	p.His329Arg	p.H329R	ENST00000368868	NM_003944.3	329	cAt/cGt	0	validated		probablydamaging	
POGZ		inserm.fr	GRCh37	1	151396485	151396485	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCB111T									Valid												ENST00000271715.2:c.1463C>G	p.Pro488Arg	p.P488R	ENST00000271715	NM_015100.3	488	cCt/cGt	0	validated		probablydamaging	
MAB21L2		inserm.fr	GRCh37	4	151505237	151505237	+	synonymous_variant	Silent	SNP	T	C	C			CHC1738T																					ENST00000317605.4:c.1056T>C	p.Asn352=	p.N352=	ENST00000317605	NM_006439.4	352	aaT/aaC	0	not done		synonymous	
RRN3		inserm.fr	GRCh37	16	15155715	15155715	+	synonymous_variant	Silent	SNP	G	C	C			CHC218T																					ENST00000198767.6:c.1842C>G	p.Pro614=	p.P614=	ENST00000198767	NM_018427.3	614	ccC/ccG	0	not done		synonymous	
RRN3		inserm.fr	GRCh37	16	15155727	15155727	+	synonymous_variant	Silent	SNP	T	C	C			CHC609T																					ENST00000198767.6:c.1830A>G	p.Lys610=	p.K610=	ENST00000198767	NM_018427.3	610	aaA/aaG	0	validated		synonymous	
GALNTL5		inserm.fr	GRCh37	7	151684303	151684303	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC961T																					ENST00000392800.2:c.595A>C	p.Ile199Leu	p.I199L	ENST00000392800	NM_145292.3	199	Ata/Cta	0	validated		possiblydamaging	
RORC		inserm.fr	GRCh37	1	151780049	151780049	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1714T																					ENST00000318247.6:c.1456T>G	p.Phe486Val	p.F486V	ENST00000318247	NM_005060.3	486	Ttc/Gtc	0	not done		probablydamaging	
NMUR2		inserm.fr	GRCh37	5	151784141	151784141	+	synonymous_variant	Silent	SNP	G	C	C			BCM275T																					ENST00000255262.3:c.534C>G	p.Ser178=	p.S178=	ENST00000255262	NM_020167.4	178	tcC/tcG	0	validated		synonymous	
GALNT11		inserm.fr	GRCh37	7	151791323	151791323	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1717T																					ENST00000434507.1:c.11T>C	p.Val4Ala	p.V4A	ENST00000434507		4	gTc/gCc	0	not done		benign	
MLL3		inserm.fr	GRCh37	7	151927361	151927361	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC304T									Valid												ENST00000262189.6:c.2815T>G	p.Ser939Ala	p.S939A	ENST00000262189	NM_170606.2	939	Tct/Gct	0	validated		probablydamaging	
RPS3A		inserm.fr	GRCh37	4	152025434	152025434	+	synonymous_variant	Silent	SNP	T	C	C			CHC1534T																					ENST00000274065.4:c.669T>C	p.Phe223=	p.F223=	ENST00000274065	NM_001006.4	223	ttT/ttC	0	validated		synonymous	
TCHH		inserm.fr	GRCh37	1	152080996	152080996	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1604T																					ENST00000368804.1:c.4697A>G	p.Glu1566Gly	p.E1566G	ENST00000368804	NM_007113.3	1566	gAg/gGg	0	not done		benign	
ZNF185		inserm.fr	GRCh37	X	152132455	152132455	+	synonymous_variant	Silent	SNP	T	C	C			CHC1035T																					ENST00000535861.1:c.1773T>C	p.Ile591=	p.I591=	ENST00000535861	NM_001178106.1	591	atT/atC	0	validated		synonymous	
HRNR		inserm.fr	GRCh37	1	152191699	152191699	+	synonymous_variant	Silent	SNP	G	C	C			CHC1055T																					ENST00000368801.2:c.2406C>G	p.Ser802=	p.S802=	ENST00000368801	NM_001009931.2	802	tcC/tcG	0	validated		synonymous	
PRSS48		inserm.fr	GRCh37	4	152212584	152212584	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM501T																					ENST00000455694.2:c.966A>C	p.Arg322Ser	p.R322S	ENST00000455694	NM_183375.2	322	agA/agC	0	validated		benign	
PNMA3		inserm.fr	GRCh37	X	152226020	152226020	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM371T																					ENST00000447306.1:c.608G>C	p.Arg203Pro	p.R203P	ENST00000447306	NM_013364.4	203	cGg/cCg	0	validated		probablydamaging	
FLG		inserm.fr	GRCh37	1	152276087	152276087	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC218T																					ENST00000368799.1:c.11275C>G	p.Arg3759Gly	p.R3759G	ENST00000368799	NM_002016.1	3759	Cgt/Ggt	0	validated		probablydamaging	
RIF1		inserm.fr	GRCh37	2	152295238	152295238	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1191T																					ENST00000243326.5:c.1524G>C	p.Leu508Phe	p.L508F	ENST00000243326		508	ttG/ttC	0	not done		benign	
LCE5A		inserm.fr	GRCh37	1	152484056	152484056	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1035T																					ENST00000334269.2:c.46T>C	p.Cys16Arg	p.C16R	ENST00000334269	NM_178438.4	16	Tgt/Cgt	0	validated		probablydamaging	
NEB		inserm.fr	GRCh37	2	152497093	152497093	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB307T																					ENST00000397345.3:c.8461A>G	p.Met2821Val	p.M2821V	ENST00000397345	NM_001164508.1	2821	Atg/Gtg	0	validated		probablydamaging	
NEB		inserm.fr	GRCh37	2	152536344	152536344	+	splice_acceptor_variant	Splice_Site	SNP	T	C	C			CHC796T									Valid												ENST00000397345.3:c.3148-2A>G		p.X1050_splice	ENST00000397345	NM_001164508.1			0	validated		damaging	
NEB		inserm.fr	GRCh37	2	152536496	152536496	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC302T									Valid												ENST00000397345.3:c.3083A>G	p.Tyr1028Cys	p.Y1028C	ENST00000397345	NM_001164508.1	1028	tAc/tGc	0	validated		probablydamaging	
ASB9		inserm.fr	GRCh37	X	15262754	15262754	+	splice_acceptor_variant	Splice_Site	SNP	T	C	C			CHC327T									Valid												ENST00000380488.4:c.761-2A>G		p.X254_splice	ENST00000380488	NM_001031739.2			0	validated		possiblydamaging	
SYNE1		inserm.fr	GRCh37	6	152644684	152644684	+	synonymous_variant	Silent	SNP	T	C	C			CHC1700T																					ENST00000367255.5:c.15846A>G	p.Gly5282=	p.G5282=	ENST00000367255	NM_182961.3	5282	ggA/ggG	0	not done		synonymous	
LCE6A		inserm.fr	GRCh37	1	152816125	152816125	+	synonymous_variant	Silent	SNP	T	C	C			CHC1154T																					ENST00000431011.2:c.129T>C	p.His43=	p.H43=	ENST00000431011	NM_001128600.1	43	caT/caC	0	not done		synonymous	
NOTCH3		inserm.fr	GRCh37	19	15292414	15292414	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1594T																					ENST00000263388.2:c.2765A>G	p.Glu922Gly	p.E922G	ENST00000263388	NM_000435.2	922	gAa/gGa	0	not done		probablydamaging	
ABCD1		inserm.fr	GRCh37	X	152991562	152991562	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC303T																					ENST00000218104.3:c.841T>C	p.Tyr281His	p.Y281H	ENST00000218104	NM_000033.3	281	Tac/Cac	0	validated		benign	
MYCT1		inserm.fr	GRCh37	6	153043083	153043083	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1148T																					ENST00000367245.5:c.403A>C	p.Ser135Arg	p.S135R	ENST00000367245	NM_025107.2	135	Agc/Cgc	0	not done		probablydamaging	
GRIA1		inserm.fr	GRCh37	5	153054075	153054075	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1725T																					ENST00000518783.1:c.745G>C	p.Asp249His	p.D249H	ENST00000518783	NM_001258021.1	249	Gac/Cac	0	not done		probablydamaging	
GRIA1		inserm.fr	GRCh37	5	153085403	153085403	+	synonymous_variant	Silent	SNP	T	C	C			CHC303T																					ENST00000518783.1:c.1629T>C	p.Asp543=	p.D543=	ENST00000518783	NM_001258021.1	543	gaT/gaC	0	validated		synonymous	
SPRR2G		inserm.fr	GRCh37	1	153122511	153122511	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1775T																					ENST00000368748.4:c.76C>G	p.Pro26Ala	p.P26A	ENST00000368748	NM_001014291.3	26	Cca/Gca	0	validated		possiblydamaging	
L1CAM		inserm.fr	GRCh37	X	153132304	153132304	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1534T																					ENST00000370060.1:c.2231A>G	p.Asn744Ser	p.N744S	ENST00000370060	NM_001278116.1	744	aAc/aGc	0	validated		probablydamaging	
L1CAM		inserm.fr	GRCh37	X	153134061	153134061	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC429T									Valid												ENST00000370060.1:c.1501A>G	p.Asn501Asp	p.N501D	ENST00000370060	NM_001278116.1	501	Aat/Gat	0	validated		probablydamaging	
PRR9		inserm.fr	GRCh37	1	153190759	153190759	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2099T																					ENST00000368744.3:c.139G>C	p.Val47Leu	p.V47L	ENST00000368744	NM_001195571.1	47	Gtg/Ctg	0	not done			
RENBP		inserm.fr	GRCh37	X	153205644	153205644	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC798T																					ENST00000393700.3:c.988A>G	p.Met330Val	p.M330V	ENST00000393700	NM_002910.5	330	Atg/Gtg	0	validated		possiblydamaging	
SIRPD		inserm.fr	GRCh37	20	1532426	1532426	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2098T																					ENST00000381623.3:c.332A>G	p.Asp111Gly	p.D111G	ENST00000381623		111	gAt/gGt	0	not done		probablydamaging	
FBXW7		inserm.fr	GRCh37	4	153249506	153249506	+	synonymous_variant	Silent	SNP	T	C	C			CHC327T																					ENST00000281708.4:c.1272A>G	p.Val424=	p.V424=	ENST00000281708	NM_033632.3	424	gtA/gtG	0	validated		synonymous	
S100A12		inserm.fr	GRCh37	1	153346389	153346389	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM501T																					ENST00000368737.3:c.193C>G	p.Gln65Glu	p.Q65E	ENST00000368737	NM_005621.1	65	Caa/Gaa	0	validated		benign	
PIGA		inserm.fr	GRCh37	X	15349981	15349981	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC793T																					ENST00000333590.4:c.72T>G	p.Ser24Arg	p.S24R	ENST00000333590	NM_002641.3	24	agT/agG	0	validated		benign	
SLC27A3		inserm.fr	GRCh37	1	153750268	153750268	+	synonymous_variant	Silent	SNP	G	C	C			CHC2358T																					ENST00000368661.3:c.1209G>C	p.Ser403=	p.S403=	ENST00000368661	NM_024330.1	403	tcG/tcC	0	validated		synonymous	
FIGF		inserm.fr	GRCh37	X	15381373	15381373	+	synonymous_variant	Silent	SNP	T	C	C			CHC2128T																					ENST00000297904.3:c.159A>G	p.Leu53=	p.L53=	ENST00000297904	NM_004469.4	53	ctA/ctG	0	not done		synonymous	
MPP1		inserm.fr	GRCh37	X	154014569	154014569	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC320T									Valid												ENST00000369534.3:c.587A>G	p.Asn196Ser	p.N196S	ENST00000369534	NM_001166461.1	196	aAc/aGc	0	validated		benign	
NUP210L		inserm.fr	GRCh37	1	154033513	154033513	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2099T																					ENST00000368559.3:c.2653A>G	p.Asn885Asp	p.N885D	ENST00000368559	NM_207308.2	885	Aac/Gac	0	not done		benign	
F8		inserm.fr	GRCh37	X	154133148	154133148	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM265T									Valid												ENST00000360256.4:c.5524A>G	p.Met1842Val	p.M1842V	ENST00000360256	NM_000132.3	1842	Atg/Gtg	0	validated		possiblydamaging	
F8		inserm.fr	GRCh37	X	154158325	154158325	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC326T									Valid												ENST00000360256.4:c.3740T>G	p.Phe1247Cys	p.F1247C	ENST00000360256	NM_000132.3	1247	tTc/tGc	0	validated		probablydamaging	
NBAS		inserm.fr	GRCh37	2	15417148	15417148	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCB325T									Valid												ENST00000281513.5:c.5216T>G	p.Phe1739Cys	p.F1739C	ENST00000281513	NM_015909.3	1739	tTt/tGt	0	validated		probablydamaging	
LARP1		inserm.fr	GRCh37	5	154174761	154174761	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM257T									Valid												ENST00000336314.4:c.1028T>C	p.Leu343Ser	p.L343S	ENST00000336314	NM_015315.4	343	tTa/tCa	0	validated		probablydamaging	
C5orf4		inserm.fr	GRCh37	5	154214197	154214197	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC884T																					ENST00000326080.5:c.232C>G	p.Leu78Val	p.L78V	ENST00000326080	NM_032385.3	78	Ctc/Gtc	0	validated		possiblydamaging	
UBAP2L		inserm.fr	GRCh37	1	154218698	154218698	+	synonymous_variant	Silent	SNP	G	C	C			CHC1534T																					ENST00000428931.1:c.861G>C	p.Leu287=	p.L287=	ENST00000428931	NM_014847.3	287	ctG/ctC	0	validated		synonymous	
UBAP2L		inserm.fr	GRCh37	1	154229897	154229897	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1028T																					ENST00000428931.1:c.2429T>C	p.Leu810Ser	p.L810S	ENST00000428931	NM_014847.3	810	tTa/tCa	0	validated		probablydamaging	
ATP8B2		inserm.fr	GRCh37	1	154314991	154314991	+	synonymous_variant	Silent	SNP	T	C	C			CHC1097T																					ENST00000368489.3:c.1378T>C	p.Leu460=	p.L460=	ENST00000368489	NM_020452.3	460	Ttg/Ctg	0	validated		synonymous	
IL6R		inserm.fr	GRCh37	1	154437820	154437820	+	synonymous_variant	Silent	SNP	T	C	C			BCM439T																					ENST00000368485.3:c.1371T>C	p.Tyr457=	p.Y457=	ENST00000368485	NM_000565.3	457	taT/taC	0	validated		synonymous	
UTY		inserm.fr	GRCh37	Y	15470427	15470427	+	intron_variant	Intron	SNP	A	C	C			CHC1739T																					ENST00000331397.4:c.1186-578T>G		*396*	ENST00000331397	NM_001258267.1			0	not done			
UTY		inserm.fr	GRCh37	Y	15472353	15472353	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2052T																					ENST00000331397.4:c.922A>G	p.Ile308Val	p.I308V	ENST00000331397	NM_001258267.1	308	Att/Gtt	0	validated		possiblydamaging	
TMLHE		inserm.fr	GRCh37	X	154743701	154743701	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM483T									Valid												ENST00000334398.3:c.584T>G	p.Val195Gly	p.V195G	ENST00000334398	NM_018196.3	195	gTc/gGc	0	validated		probablydamaging	
PBXIP1		inserm.fr	GRCh37	1	154918326	154918326	+	synonymous_variant	Silent	SNP	G	C	C			CHC1754T																					ENST00000368463.3:c.1824C>G	p.Ala608=	p.A608=	ENST00000368463	NM_020524.2	608	gcC/gcG	0	not done		synonymous	
GALNT13		inserm.fr	GRCh37	2	154996853	154996853	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1731T																					ENST00000392825.3:c.146T>C	p.Val49Ala	p.V49A	ENST00000392825	NM_052917.2	49	gTt/gCt	0	not done		benign	
SCAF8		inserm.fr	GRCh37	6	155114111	155114111	+	splice_donor_variant	Splice_Site	SNP	G	C	C			BCM269T									Valid												ENST00000367178.3:c.475+1G>C		p.X159_splice	ENST00000367178	NM_014892.3			0	validated		damaging	
DCHS2		inserm.fr	GRCh37	4	155158190	155158190	+	synonymous_variant	Silent	SNP	T	C	C			CHC469T																					ENST00000357232.4:c.6249A>G	p.Gly2083=	p.G2083=	ENST00000357232	NM_017639.3	2083	ggA/ggG	0	validated		synonymous	
FBXW10B		inserm.fr	GRCh37	17	15519063	15519063	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC301T																					ENST00000395906.3:c.566C>G	p.Ser189Cys	p.S189C	ENST00000395906	NM_006382.3	189	tCt/tGt	0	validated		benign	
PLCH1		inserm.fr	GRCh37	3	155203462	155203462	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1545T																					ENST00000340059.7:c.2681A>G	p.Lys894Arg	p.K894R	ENST00000340059	NM_001130960.1	894	aAg/aGg	0	not done		benign	
CLK2		inserm.fr	GRCh37	1	155237919	155237919	+	splice_acceptor_variant	Splice_Site	SNP	T	C	C			CHC1539T																					ENST00000361168.5:c.552-2A>G		p.X184_splice	ENST00000361168				0	not done		possiblydamaging	
DCHS2		inserm.fr	GRCh37	4	155410805	155410805	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1712T																					ENST00000339452.1:c.1703A>G	p.Glu568Gly	p.E568G	ENST00000339452	NM_001142552.1	568	gAg/gGg	0	not done		probablydamaging	
TIAM2		inserm.fr	GRCh37	6	155450869	155450869	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2358T																					ENST00000461783.3:c.512G>C	p.Gly171Ala	p.G171A	ENST00000461783		171	gGg/gCg	0	validated		probablydamaging	
FGB		inserm.fr	GRCh37	4	155490729	155490729	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC433T									Valid												ENST00000302068.4:c.1022T>C	p.Leu341Ser	p.L341S	ENST00000302068	NM_005141.4	341	tTg/tCg	0	validated		probablydamaging	
TIAM2		inserm.fr	GRCh37	6	155504593	155504593	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1591T																					ENST00000461783.3:c.3023T>C	p.Leu1008Pro	p.L1008P	ENST00000461783		1008	cTg/cCg	0	not done		probablydamaging	
FGA		inserm.fr	GRCh37	4	155507499	155507499	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC469T																					ENST00000302053.3:c.1082A>G	p.Asn361Ser	p.N361S	ENST00000302053	NM_000508.3	361	aAt/aGt	0	validated		benign	
MEX3D		inserm.fr	GRCh37	19	1556125	1556125	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2048T																					ENST00000402693.4:c.1393A>G	p.Thr465Ala	p.T465A	ENST00000402693	NM_203304.3	465	Acc/Gcc	0	not done		possiblydamaging	
NOX3		inserm.fr	GRCh37	6	155728336	155728336	+	stop_gained	Nonsense_Mutation	SNP	A	C	C			BCM791T																					ENST00000159060.2:c.1508T>G	p.Leu503Ter	p.L503*	ENST00000159060	NM_015718.2	503	tTa/tGa	0	validated		damaging	
RAB25		inserm.fr	GRCh37	1	156038142	156038142	+	synonymous_variant	Silent	SNP	G	C	C			BCB325T																					ENST00000361084.5:c.321G>C	p.Leu107=	p.L107=	ENST00000361084	NM_020387.2	107	ctG/ctC	0	validated		synonymous	
FBXL5		inserm.fr	GRCh37	4	15613973	15613973	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC884T																					ENST00000341285.3:c.1915A>G	p.Ile639Val	p.I639V	ENST00000341285	NM_001193534.1	639	Ata/Gta	0	validated		benign	
ZNF286A		inserm.fr	GRCh37	17	15619461	15619461	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	C	C			CHC1732T																					ENST00000413242.2:c.423A>C	p.Arg141Ser	p.R141S	ENST00000413242		141	agA/agC	0	not done		probablydamaging	
MAP9		inserm.fr	GRCh37	4	156296957	156296957	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC884T									Valid												ENST00000311277.4:c.46C>G	p.Pro16Ala	p.P16A	ENST00000311277	NM_001039580.1	16	Cca/Gca	0	validated		probablydamaging	
PTPRO		inserm.fr	GRCh37	12	15637077	15637077	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2029T																					ENST00000281171.4:c.245T>C	p.Val82Ala	p.V82A	ENST00000281171	NM_030667.2	82	gTt/gCt	0	not done		benign	
C1orf61		inserm.fr	GRCh37	1	156376945	156376945	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM375T									Valid												ENST00000368243.1:c.350C>G	p.Ser117Cys	p.S117C	ENST00000368243	NM_006365.1	117	tCc/tGc	0	validated		possiblydamaging	
HAVCR1		inserm.fr	GRCh37	5	156482373	156482373	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000339252.3:c.218A>G	p.Lys73Arg	p.K73R	ENST00000339252	NM_012206.2	73	aAg/aGg	0	not done		benign	
PTPRO		inserm.fr	GRCh37	12	15650208	15650208	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1035T																					ENST00000281171.4:c.379T>C	p.Tyr127His	p.Y127H	ENST00000281171	NM_030667.2	127	Tat/Cat	0	validated		benign	
LMBR1		inserm.fr	GRCh37	7	156521357	156521357	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2216T																					ENST00000353442.5:c.896T>G	p.Val299Gly	p.V299G	ENST00000353442	NM_022458.3	299	gTt/gGt	0	not done		probablydamaging	
HAVCR2		inserm.fr	GRCh37	5	156531750	156531750	+	synonymous_variant	Silent	SNP	G	C	C			CHC1708T																					ENST00000307851.4:c.405C>G	p.Thr135=	p.T135=	ENST00000307851	NM_032782.4	135	acC/acG	0	validated		synonymous	
APOA1BP		inserm.fr	GRCh37	1	156561900	156561900	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC051T																					ENST00000368235.3:c.190G>C	p.Glu64Gln	p.E64Q	ENST00000368235	NM_144772.2	64	Gag/Cag	0	validated		benign	
BCAN		inserm.fr	GRCh37	1	156627949	156627949	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC879T																					ENST00000329117.5:c.2323G>C	p.Asp775His	p.D775H	ENST00000329117	NM_021948.4	775	Gac/Cac	0	not done		probablydamaging	
NES		inserm.fr	GRCh37	1	156640962	156640962	+	synonymous_variant	Silent	SNP	G	C	C			CHC2321T																					ENST00000368223.3:c.3018C>G	p.Val1006=	p.V1006=	ENST00000368223	NM_006617.1	1006	gtC/gtG	0	validated		synonymous	
NES		inserm.fr	GRCh37	1	156641681	156641681	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC451T																					ENST00000368223.3:c.2299A>G	p.Arg767Gly	p.R767G	ENST00000368223	NM_006617.1	767	Agg/Ggg	0	validated		probablydamaging	
CRABP2		inserm.fr	GRCh37	1	156670353	156670353	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC429T									Valid												ENST00000368222.3:c.347A>G	p.Asn116Ser	p.N116S	ENST00000368222	NM_001878.3	116	aAc/aGc	0	not done		benign	
PTPRO		inserm.fr	GRCh37	12	15669792	15669792	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1745T																					ENST00000281171.4:c.1681T>C	p.Tyr561His	p.Y561H	ENST00000281171	NM_030667.2	561	Tac/Cac	0	not done		probablydamaging	
METTL25B		inserm.fr	GRCh37	1	156705547	156705547	+	synonymous_variant	Silent	SNP	G	C	C			BCM723T																					ENST00000368216.4:c.1152G>C	p.Gly384=	p.G384=	ENST00000368216	NM_015997.3	384	ggG/ggC	0	validated		synonymous	
INSRR		inserm.fr	GRCh37	1	156814883	156814883	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC912T									Valid												ENST00000368195.3:c.2422C>G	p.Arg808Gly	p.R808G	ENST00000368195	NM_014215.2	808	Cgc/Ggc	0	validated		probablydamaging	
LRRC71		inserm.fr	GRCh37	1	156894330	156894330	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1750T																					ENST00000337428.7:c.425A>C	p.Glu142Ala	p.E142A	ENST00000337428	NM_144702.2	142	gAa/gCa	0	not done		probablydamaging	
UBE3C		inserm.fr	GRCh37	7	156971425	156971425	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1207T																					ENST00000348165.5:c.500T>C	p.Leu167Pro	p.L167P	ENST00000348165	NM_014671.2	167	cTt/cCt	0	not done		probablydamaging	
VEPH1		inserm.fr	GRCh37	3	156978990	156978990	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC303T									Valid												ENST00000362010.2:c.2435A>G	p.Gln812Arg	p.Q812R	ENST00000362010	NM_001167912.1	812	cAg/cGg	0	validated		probablydamaging	
SOX30		inserm.fr	GRCh37	5	157053400	157053400	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC892T																					ENST00000265007.6:c.2210A>G	p.Asn737Ser	p.N737S	ENST00000265007	NM_178424.1	737	aAt/aGt	0	not done		possiblydamaging	
SOX30		inserm.fr	GRCh37	5	157073732	157073732	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM735T																					ENST00000265007.6:c.1300A>G	p.Thr434Ala	p.T434A	ENST00000265007	NM_178424.1	434	Aca/Gca	0	validated		probablydamaging	
CLINT1		inserm.fr	GRCh37	5	157214667	157214667	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC320T																					ENST00000523908.1:c.1919A>G	p.Asn640Ser	p.N640S	ENST00000523908		640	aAt/aGt	0	validated		possiblydamaging	
CLINT1		inserm.fr	GRCh37	5	157216474	157216474	+	synonymous_variant	Silent	SNP	A	C	C			CHC2029T																					ENST00000523908.1:c.1482T>G	p.Thr494=	p.T494=	ENST00000523908		494	acT/acG	0	not done		synonymous	
KIAA0430		inserm.fr	GRCh37	16	15729844	15729844	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1594T																					ENST00000396368.3:c.500A>G	p.Asn167Ser	p.N167S	ENST00000396368	NM_001184998.1	167	aAc/aGc	0	not done		benign	
DDX1		inserm.fr	GRCh37	2	15743954	15743954	+	synonymous_variant	Silent	SNP	A	C	C			CHC889T																					ENST00000381341.2:c.492A>C	p.Gly164=	p.G164=	ENST00000381341		164	ggA/ggC	0	not done		synonymous	
FCRL5		inserm.fr	GRCh37	1	157516790	157516790	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1616T																					ENST00000361835.3:c.250A>G	p.Arg84Gly	p.R84G	ENST00000361835	NM_001195388.1	84	Aga/Gga	0	not done		possiblydamaging	
ANKRD28		inserm.fr	GRCh37	3	15776973	15776973	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1182T																					ENST00000399451.2:c.494A>G	p.Asn165Ser	p.N165S	ENST00000399451	NM_015199.3	165	aAt/aGt	0	not done		benign	
PRPF8		inserm.fr	GRCh37	17	1579560	1579560	+	synonymous_variant	Silent	SNP	G	C	C			CHC2213T																					ENST00000572621.1:c.2493C>G	p.Ser831=	p.S831=	ENST00000572621		831	tcC/tcG	0	validated		synonymous	
MBD3		inserm.fr	GRCh37	19	1581122	1581122	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1717T																					ENST00000156825.1:c.646A>G	p.Lys216Glu	p.K216E	ENST00000156825		216	Aaa/Gaa	0	not done		possiblydamaging	
MYH11		inserm.fr	GRCh37	16	15818164	15818164	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2351T																					ENST00000396324.3:c.4240C>G	p.Gln1414Glu	p.Q1414E	ENST00000396324	NM_001040114.1	1414	Cag/Gag	0	not done		benign	
OR10K2		inserm.fr	GRCh37	1	158390379	158390379	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1616T																					ENST00000314902.2:c.278C>G	p.Ser93Cys	p.S93C	ENST00000314902	NM_001004476.1	93	tCt/tGt	0	not done		probablydamaging	
ESYT2		inserm.fr	GRCh37	7	158531720	158531720	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC805T																					ENST00000251527.5:c.2342C>G	p.Ala781Gly	p.A781G	ENST00000251527	NM_020728.2	781	gCc/gGc	0	not done		benign	
SPTA1		inserm.fr	GRCh37	1	158581162	158581162	+	synonymous_variant	Silent	SNP	T	C	C			BCM325T																					ENST00000368147.4:c.7152A>G	p.Gln2384=	p.Q2384=	ENST00000368147	NM_003126.2	2384	caA/caG	0	validated		synonymous	
SPTA1		inserm.fr	GRCh37	1	158624466	158624466	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC306T									Valid												ENST00000368147.4:c.2971C>G	p.Arg991Gly	p.R991G	ENST00000368147	NM_003126.2	991	Cgc/Ggc	0	validated		possiblydamaging	
SPTA1		inserm.fr	GRCh37	1	158639203	158639203	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM399T									Valid												ENST00000368147.4:c.1828T>G	p.Tyr610Asp	p.Y610D	ENST00000368147	NM_003126.2	610	Tac/Gac	0	validated		probablydamaging	
WDR60		inserm.fr	GRCh37	7	158663857	158663857	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1040T																					ENST00000407559.3:c.94G>C	p.Glu32Gln	p.E32Q	ENST00000407559	NM_018051.4	32	Gaa/Caa	0	not done		possiblydamaging	
OR6K3		inserm.fr	GRCh37	1	158687711	158687711	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC451T																					ENST00000368145.1:c.195A>G	p.Ile65Met	p.I65M	ENST00000368145	NM_001005327.2	65	atA/atG	0	validated		benign	
WDR60		inserm.fr	GRCh37	7	158719687	158719687	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC909T																					ENST00000407559.3:c.2438T>C	p.Val813Ala	p.V813A	ENST00000407559	NM_018051.4	813	gTt/gCt	0	not done		possiblydamaging	
OR6N1		inserm.fr	GRCh37	1	158735592	158735592	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1154T																					ENST00000335094.2:c.881A>G	p.Asn294Ser	p.N294S	ENST00000335094	NM_001005185.1	294	aAc/aGc	0	not done		probablydamaging	
OR6N1		inserm.fr	GRCh37	1	158735774	158735774	+	synonymous_variant	Silent	SNP	G	C	C			CHC1751T																					ENST00000335094.2:c.699C>G	p.Gly233=	p.G233=	ENST00000335094	NM_001005185.1	233	ggC/ggG	0	not done		synonymous	
CCDC171		inserm.fr	GRCh37	9	15874628	15874628	+	synonymous_variant	Silent	SNP	G	C	C			BCM439T																					ENST00000380701.3:c.3567G>C	p.Gly1189=	p.G1189=	ENST00000380701	NM_173550.2	1189	ggG/ggC	0	validated		synonymous	
TULP4		inserm.fr	GRCh37	6	158923985	158923985	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC896T																					ENST00000367097.3:c.3290A>C	p.His1097Pro	p.H1097P	ENST00000367097	NM_020245.4	1097	cAc/cCc	0	not done		possiblydamaging	
AIM2		inserm.fr	GRCh37	1	159036019	159036019	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM371T																					ENST00000368130.4:c.497C>G	p.Thr166Arg	p.T166R	ENST00000368130	NM_004833.1	166	aCg/aGg	0	validated		benign	
CCDC148		inserm.fr	GRCh37	2	159215067	159215067	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM371T																					ENST00000283233.5:c.41A>G	p.His14Arg	p.H14R	ENST00000283233	NM_138803.3	14	cAt/cGt	0	validated		benign	
FBXL7		inserm.fr	GRCh37	5	15928567	15928567	+	synonymous_variant	Silent	SNP	T	C	C			CHC1052T																					ENST00000504595.1:c.696T>C	p.Asp232=	p.D232=	ENST00000504595	NM_012304.4	232	gaT/gaC	0	validated		synonymous	
RXFP1		inserm.fr	GRCh37	4	159549828	159549828	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM375T									Valid												ENST00000307765.5:c.866A>C	p.Asn289Thr	p.N289T	ENST00000307765	NM_001253728.1	289	aAt/aCt	0	validated		possiblydamaging	
RXFP1		inserm.fr	GRCh37	4	159568236	159568236	+	synonymous_variant	Silent	SNP	T	C	C			CHC2112T																					ENST00000307765.5:c.1639T>C	p.Leu547=	p.L547=	ENST00000307765	NM_001253728.1	547	Ttg/Ctg	0	not done		synonymous	
NCOR1		inserm.fr	GRCh37	17	15961339	15961339	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC884T									Valid												ENST00000268712.3:c.6050A>G	p.Tyr2017Cys	p.Y2017C	ENST00000268712	NM_006311.3	2017	tAt/tGt	0	validated		probablydamaging	
SLAMF9		inserm.fr	GRCh37	1	159921498	159921498	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM371T																					ENST00000368093.3:c.823A>G	p.Arg275Gly	p.R275G	ENST00000368093	NM_033438.3	275	Aga/Gga	0	validated		probablydamaging	
IFT80		inserm.fr	GRCh37	3	159997062	159997062	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2351T																					ENST00000326448.7:c.1755A>G	p.Ile585Met	p.I585M	ENST00000326448	NM_020800.2	585	atA/atG	0	not done		possiblydamaging	
KCNJ10		inserm.fr	GRCh37	1	160011916	160011916	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1714T																					ENST00000368089.3:c.407T>G	p.Ile136Ser	p.I136S	ENST00000368089	NM_002241.4	136	aTc/aGc	0	not done		probablydamaging	
WDSUB1		inserm.fr	GRCh37	2	160104909	160104909	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2362T																					ENST00000409990.3:c.1247T>G	p.Leu416Arg	p.L416R	ENST00000409990	NM_001128213.1	416	cTt/cGt	0	validated		probablydamaging	
SMC4		inserm.fr	GRCh37	3	160122190	160122190	+	synonymous_variant	Silent	SNP	T	C	C			CHC304T																					ENST00000357388.3:c.585T>C	p.Ser195=	p.S195=	ENST00000357388	NM_001002800.1	195	tcT/tcC	0	validated		synonymous	
PEX19		inserm.fr	GRCh37	1	160252819	160252819	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1734T																					ENST00000368072.5:c.261C>G	p.Phe87Leu	p.F87L	ENST00000368072	NM_001193644.1	87	ttC/ttG	0	not done		probablydamaging	
MSR1		inserm.fr	GRCh37	8	16026381	16026381	+	splice_acceptor_variant	Splice_Site	SNP	T	C	C			CHC1592T																					ENST00000262101.5:c.218-2A>G		p.X73_splice	ENST00000262101				0	not done		damaging	
COPA		inserm.fr	GRCh37	1	160269024	160269024	+	synonymous_variant	Silent	SNP	T	C	C			CHC051T																					ENST00000368069.3:c.1725A>G	p.Leu575=	p.L575=	ENST00000368069		575	ttA/ttG	0	validated		synonymous	
BAZ2B		inserm.fr	GRCh37	2	160284871	160284871	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1717T																					ENST00000392783.2:c.2315A>G	p.Tyr772Cys	p.Y772C	ENST00000392783	NM_013450.2	772	tAt/tGt	0	not done		probablydamaging	
BAZ2B		inserm.fr	GRCh37	2	160289378	160289378	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC917T																					ENST00000392783.2:c.1790A>G	p.Asp597Gly	p.D597G	ENST00000392783	NM_013450.2	597	gAc/gGc	0	validated		probablydamaging	
BAZ2B		inserm.fr	GRCh37	2	160289834	160289834	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC121T																					ENST00000392783.2:c.1334A>G	p.Gln445Arg	p.Q445R	ENST00000392783	NM_013450.2	445	cAa/cGa	0	validated		possiblydamaging	
CYP4F11		inserm.fr	GRCh37	19	16033233	16033233	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1207T																					ENST00000402119.4:c.926A>G	p.Asp309Gly	p.D309G	ENST00000402119	NM_021187.3	309	gAt/gGt	0	not done		possiblydamaging	
CD302		inserm.fr	GRCh37	2	160628520	160628520	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1044T																					ENST00000259053.4:c.541A>G	p.Ile181Val	p.I181V	ENST00000259053	NM_014880.4	181	Att/Gtt	0	not done		benign	
LY75		inserm.fr	GRCh37	2	160667132	160667132	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM399T																					ENST00000504764.1:c.4604A>G	p.Asn1535Ser	p.N1535S	ENST00000504764	NM_001198759.1	1535	aAt/aGt	0	validated		probablydamaging	
PPM1L		inserm.fr	GRCh37	3	160783322	160783322	+	synonymous_variant	Silent	SNP	T	C	C			CHC736T																					ENST00000498165.1:c.706T>C	p.Leu236=	p.L236=	ENST00000498165	NM_139245.2	236	Ttg/Ctg	0	validated		synonymous	
LY9		inserm.fr	GRCh37	1	160797604	160797604	+	stop_lost	Nonstop_Mutation	SNP	T	C	C			CHC805T																					ENST00000263285.6:c.1966T>C	p.Ter656ArgextTer59	p.*656Rext*59	ENST00000263285		656	Tga/Cga	0	not done			
ITGB6		inserm.fr	GRCh37	2	160980303	160980303	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	C	C			CHC432T																					ENST00000283249.2:c.1980A>G	p.Glu660=	p.E660=	ENST00000283249	NM_001282388.1	660	gaA/gaG	0	not done		damaging	
TOMM40L		inserm.fr	GRCh37	1	161197755	161197755	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC051T									Valid												ENST00000367988.3:c.460A>C	p.Asn154His	p.N154H	ENST00000367988	NM_032174.4	154	Aat/Cat	0	validated		probablydamaging	
GABRG2		inserm.fr	GRCh37	5	161530987	161530987	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC794T									Valid												ENST00000414552.2:c.844T>C	p.Phe282Leu	p.F282L	ENST00000414552	NM_198903.2	282	Ttt/Ctt	0	validated		possiblydamaging	
TAPT1		inserm.fr	GRCh37	4	16168334	16168334	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000405303.2:c.1396A>G	p.Lys466Glu	p.K466E	ENST00000405303	NM_153365.2	466	Aag/Gag	0	not done		probablydamaging	
GRPR		inserm.fr	GRCh37	X	16168503	16168503	+	synonymous_variant	Silent	SNP	T	C	C			CHC2052T																					ENST00000380289.2:c.489T>C	p.Phe163=	p.F163=	ENST00000380289	NM_005314.2	163	ttT/ttC	0	not done		synonymous	
MARCH11		inserm.fr	GRCh37	5	16179186	16179186	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM483T																					ENST00000332432.8:c.499C>G	p.Gln167Glu	p.Q167E	ENST00000332432	NM_001102562.1	167	Cag/Gag	0	validated		possiblydamaging	
TCF3		inserm.fr	GRCh37	19	1621167	1621167	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1700T																					ENST00000344749.5:c.979A>G	p.Ser327Gly	p.S327G	ENST00000344749	NM_001136139.2	327	Agc/Ggc	0	not done		probablydamaging	
GALNT15		inserm.fr	GRCh37	3	16217007	16217007	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2029T																					ENST00000339732.5:c.349T>C	p.Tyr117His	p.Y117H	ENST00000339732	NM_054110.4	117	Tac/Cac	0	not done		probablydamaging	
GMDS		inserm.fr	GRCh37	6	1624759	1624759	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM723T																					ENST00000380815.4:c.1004A>G	p.Asp335Gly	p.D335G	ENST00000380815	NM_001500.3	335	gAc/gGc	0	validated		possiblydamaging	
SPEN		inserm.fr	GRCh37	1	16261780	16261780	+	synonymous_variant	Silent	SNP	T	C	C			CHC1545T																					ENST00000375759.3:c.9045T>C	p.His3015=	p.H3015=	ENST00000375759	NM_015001.2	3015	caT/caC	0	not done		synonymous	
SLC4A10		inserm.fr	GRCh37	2	162735729	162735729	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1041T																					ENST00000446997.1:c.1037T>C	p.Val346Ala	p.V346A	ENST00000446997	NM_001178015.1	346	gTa/gCa	0	validated		benign	
NUDCD2		inserm.fr	GRCh37	5	162884018	162884018	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1715T																					ENST00000302764.4:c.307C>G	p.Leu103Val	p.L103V	ENST00000302764	NM_145266.4	103	Cta/Gta	0	not done		probablydamaging	
RGS4		inserm.fr	GRCh37	1	163044301	163044301	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1774T																					ENST00000421743.2:c.860G>C	p.Gly287Ala	p.G287A	ENST00000421743	NM_001102445.2	287	gGa/gCa	0	validated		probablydamaging	
ATXN1		inserm.fr	GRCh37	6	16327864	16327864	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1754T																					ENST00000244769.4:c.678C>G	p.His226Gln	p.H226Q	ENST00000244769	NM_000332.3	226	caC/caG	0	validated		probablydamaging	
ATXN1		inserm.fr	GRCh37	6	16328136	16328136	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000244769.4:c.406A>G	p.Ser136Gly	p.S136G	ENST00000244769	NM_000332.3	136	Agt/Ggt	0	not done		benign	
NRIP1		inserm.fr	GRCh37	21	16339460	16339460	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1720T																					ENST00000400202.1:c.1054A>G	p.Ile352Val	p.I352V	ENST00000400202		352	Atc/Gtc	0	not done		benign	
CLCNKB		inserm.fr	GRCh37	1	16373102	16373102	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM339T																					ENST00000375679.4:c.302T>C	p.Val101Ala	p.V101A	ENST00000375679	NM_000085.4	101	gTg/gCg	0	validated		benign	
NPY1R		inserm.fr	GRCh37	4	164246880	164246880	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1082T																					ENST00000296533.2:c.730A>G	p.Met244Val	p.M244V	ENST00000296533	NM_000909.5	244	Atg/Gtg	0	validated		possiblydamaging	
NPY1R		inserm.fr	GRCh37	4	164247152	164247152	+	synonymous_variant	Silent	SNP	T	C	C			CHC2048T																					ENST00000296533.2:c.555A>G	p.Gln185=	p.Q185=	ENST00000296533	NM_000909.5	185	caA/caG	0	not done		synonymous	
EPHA2		inserm.fr	GRCh37	1	16456902	16456902	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC097T																					ENST00000358432.5:c.2488A>G	p.Ile830Val	p.I830V	ENST00000358432	NM_004431.3	830	Atc/Gtc	0	not done		possiblydamaging	
SI		inserm.fr	GRCh37	3	164700196	164700196	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	C	C			CHC1629T																					ENST00000264382.3:c.5250C>G	p.Thr1750=	p.T1750=	ENST00000264382	NM_001041.3	1750	acC/acG	0	not done		synonymous	
SLITRK3		inserm.fr	GRCh37	3	164906375	164906375	+	synonymous_variant	Silent	SNP	G	C	C			CHC1715T																					ENST00000475390.1:c.2244C>G	p.Thr748=	p.T748=	ENST00000475390		748	acC/acG	0	not done		synonymous	
COBLL1		inserm.fr	GRCh37	2	165542485	165542485	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2098T																					ENST00000342193.4:c.3472A>G	p.Met1158Val	p.M1158V	ENST00000342193	NM_014900.4	1158	Atg/Gtg	0	not done		probablydamaging	
BCHE		inserm.fr	GRCh37	3	165548355	165548355	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2351T																					ENST00000264381.3:c.467A>G	p.Tyr156Cys	p.Y156C	ENST00000264381	NM_000055.2	156	tAt/tGt	0	not done		probablydamaging	
BCHE		inserm.fr	GRCh37	3	165548536	165548536	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC432T																					ENST00000264381.3:c.286A>G	p.Asn96Asp	p.N96D	ENST00000264381	NM_000055.2	96	Aac/Gac	0	not done		benign	
COBLL1		inserm.fr	GRCh37	2	165551155	165551155	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCB231T																					ENST00000342193.4:c.2861T>G	p.Leu954Arg	p.L954R	ENST00000342193	NM_014900.4	954	cTt/cGt	0	validated		probablydamaging	
SCN3A		inserm.fr	GRCh37	2	165956863	165956863	+	synonymous_variant	Silent	SNP	T	C	C			BCM325T																					ENST00000283254.7:c.3915A>G	p.Thr1305=	p.T1305=	ENST00000283254	NM_001081676.1	1305	acA/acG	0	validated		synonymous	
SCN3A		inserm.fr	GRCh37	2	165996090	165996090	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB109T																					ENST00000283254.7:c.2048A>G	p.Lys683Arg	p.K683R	ENST00000283254	NM_001081676.1	683	aAg/aGg	0	validated		probablydamaging	
SCN2A		inserm.fr	GRCh37	2	166211052	166211052	+	synonymous_variant	Silent	SNP	T	C	C			CHC2099T																					ENST00000357398.3:c.3270T>C	p.Ser1090=	p.S1090=	ENST00000357398		1090	agT/agC	0	not done		synonymous	
GALNT3		inserm.fr	GRCh37	2	166616020	166616020	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2351T																					ENST00000392701.3:c.899C>G	p.Ala300Gly	p.A300G	ENST00000392701	NM_004482.3	300	gCt/gGt	0	not done		possiblydamaging	
GALNT3		inserm.fr	GRCh37	2	166627174	166627174	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000392701.3:c.37A>G	p.Lys13Glu	p.K13E	ENST00000392701	NM_004482.3	13	Aaa/Gaa	0	not done		possiblydamaging	
MYO10		inserm.fr	GRCh37	5	16682122	16682122	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	C	C			CHC1065T									Valid												ENST00000513610.1:c.4047A>G	p.Arg1349=	p.R1349=	ENST00000513610	NM_012334.2	1349	agA/agG	0	validated		possiblydamaging	
RPS6KA2		inserm.fr	GRCh37	6	166844095	166844095	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2099T																					ENST00000503859.1:c.1451A>G	p.Tyr484Cys	p.Y484C	ENST00000503859	NM_001006932.1	484	tAt/tGt	0	not done		probablydamaging	
ILDR2		inserm.fr	GRCh37	1	166892030	166892030	+	synonymous_variant	Silent	SNP	T	C	C			CHC1741T																					ENST00000271417.3:c.1011A>G	p.Ser337=	p.S337=	ENST00000271417	NM_199351.2	337	tcA/tcG	0	not done		synonymous	
CTPS2		inserm.fr	GRCh37	X	16711346	16711346	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	C	C			CHC1180T																					ENST00000443824.1:c.557T>G	p.Leu186Arg	p.L186R	ENST00000443824	NM_001144002.1	186	cTc/cGc	0	validated		damaging	
SCN7A		inserm.fr	GRCh37	2	167279771	167279771	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC1205T																					ENST00000409855.1:c.3025A>G	p.Ile1009Val	p.I1009V	ENST00000409855	NM_002976.3	1009	Att/Gtt	0	not done		probablydamaging	
FAM49A		inserm.fr	GRCh37	2	16740786	16740786	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1052T									Valid												ENST00000381323.3:c.779T>G	p.Ile260Ser	p.I260S	ENST00000381323	NM_030797.3	260	aTc/aGc	0	validated		possiblydamaging	
TENM2		inserm.fr	GRCh37	5	167653182	167653182	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC736T																					ENST00000518659.1:c.5198T>C	p.Ile1733Thr	p.I1733T	ENST00000518659	NM_001122679.1	1733	aTt/aCt	0	validated		benign	
GOLIM4		inserm.fr	GRCh37	3	167728143	167728143	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2099T																					ENST00000470487.1:c.2005C>G	p.Arg669Gly	p.R669G	ENST00000470487	NM_014498.3	669	Cga/Gga	0	not done		probablydamaging	
C11orf58		inserm.fr	GRCh37	11	16774395	16774395	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1601T																					ENST00000228136.4:c.272A>C	p.Lys91Thr	p.K91T	ENST00000228136		91	aAa/aCa	0	not done		benign	
MYO10		inserm.fr	GRCh37	5	16781849	16781849	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1611T																					ENST00000513610.1:c.692A>G	p.Gln231Arg	p.Q231R	ENST00000513610	NM_012334.2	231	cAg/cGg	0	not done		benign	
ADCY10		inserm.fr	GRCh37	1	167874374	167874374	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1736T																					ENST00000367851.4:c.5A>G	p.Asn2Ser	p.N2S	ENST00000367851	NM_018417.4	2	aAc/aGc	0	not done		benign	
DCAF6		inserm.fr	GRCh37	1	168044628	168044628	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1629T																					ENST00000367840.3:c.2811A>C	p.Arg937Ser	p.R937S	ENST00000367840	NM_001198956.1	937	agA/agC	0	not done		probablydamaging	
GPR161		inserm.fr	GRCh37	1	168066248	168066248	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2200T																					ENST00000537209.1:c.657C>G	p.Phe219Leu	p.F219L	ENST00000537209	NM_001267609.1	219	ttC/ttG	0	not done		benign	
XIRP2		inserm.fr	GRCh37	2	168101747	168101747	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC703T																					ENST00000409195.1:c.3845T>C	p.Phe1282Ser	p.F1282S	ENST00000409195	NM_152381.5	1282	tTt/tCt	0	validated		probablydamaging	
XIRP2		inserm.fr	GRCh37	2	168104745	168104745	+	synonymous_variant	Silent	SNP	T	C	C			CHC1751T																					ENST00000409195.1:c.6843T>C	p.Asn2281=	p.N2281=	ENST00000409195	NM_152381.5	2281	aaT/aaC	0	not done		synonymous	
SLIT3		inserm.fr	GRCh37	5	168123371	168123371	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2358T																					ENST00000519560.1:c.3008A>G	p.Asn1003Ser	p.N1003S	ENST00000519560	NM_003062.3	1003	aAc/aGc	0	validated		probablydamaging	
TXLNG		inserm.fr	GRCh37	X	16836739	16836739	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1744T																					ENST00000380122.5:c.145G>C	p.Gly49Arg	p.G49R	ENST00000380122	NM_018360.2	49	Ggg/Cgg	0	not done		probablydamaging	
MECOM		inserm.fr	GRCh37	3	168833219	168833219	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1747T																					ENST00000264674.3:c.2072C>G	p.Ser691Cys	p.S691C	ENST00000264674	NM_001105077.3	691	tCc/tGc	0	not done		benign	
MECOM		inserm.fr	GRCh37	3	168833569	168833569	+	synonymous_variant	Silent	SNP	G	C	C			CHC1079T																					ENST00000264674.3:c.1722C>G	p.Leu574=	p.L574=	ENST00000264674	NM_001105077.3	574	ctC/ctG	0	not done		synonymous	
STK39		inserm.fr	GRCh37	2	169020301	169020301	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC432T																					ENST00000355999.4:c.520A>G	p.Lys174Glu	p.K174E	ENST00000355999	NM_013233.2	174	Aaa/Gaa	0	not done		probablydamaging	
DOCK2		inserm.fr	GRCh37	5	169108882	169108882	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC703T																					ENST00000256935.8:c.605T>C	p.Met202Thr	p.M202T	ENST00000256935	NM_004946.2	202	aTg/aCg	0	validated		possiblydamaging	
DOCK2		inserm.fr	GRCh37	5	169111225	169111225	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC451T																					ENST00000256935.8:c.632T>C	p.Met211Thr	p.M211T	ENST00000256935	NM_004946.2	211	aTg/aCg	0	validated		benign	
DOCK2		inserm.fr	GRCh37	5	169125376	169125376	+	splice_acceptor_variant	Splice_Site	SNP	A	C	C			CHC1603T																					ENST00000256935.8:c.980-2A>C		p.X327_splice	ENST00000256935	NM_004946.2			0	not done		possiblydamaging	
DDX60		inserm.fr	GRCh37	4	169190020	169190020	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1192T																					ENST00000393743.3:c.2771C>G	p.Pro924Arg	p.P924R	ENST00000393743	NM_017631.5	924	cCt/cGt	0	not done		probablydamaging	
SLC19A2		inserm.fr	GRCh37	1	169439299	169439299	+	synonymous_variant	Silent	SNP	T	C	C			CHC1629T																					ENST00000236137.5:c.933A>G	p.Gln311=	p.Q311=	ENST00000236137	NM_006996.2	311	caA/caG	0	not done		synonymous	
DOCK2		inserm.fr	GRCh37	5	169477281	169477281	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC909T																					ENST00000256935.8:c.4093G>C	p.Gly1365Arg	p.G1365R	ENST00000256935	NM_004946.2	1365	Ggg/Cgg	0	not done		probablydamaging	
F5		inserm.fr	GRCh37	1	169494141	169494141	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC155T																					ENST00000367797.3:c.5722A>G	p.Arg1908Gly	p.R1908G	ENST00000367797	NM_000130.4	1908	Agg/Ggg	0	validated		benign	
F5		inserm.fr	GRCh37	1	169521856	169521856	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC703T																					ENST00000367797.3:c.1235A>G	p.Asn412Ser	p.N412S	ENST00000367797	NM_000130.4	412	aAt/aGt	0	validated		benign	
SELP		inserm.fr	GRCh37	1	169582350	169582350	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC793T																					ENST00000263686.6:c.592A>G	p.Arg198Gly	p.R198G	ENST00000263686	NM_003005.3	198	Aga/Gga	0	validated		probablydamaging	
CUBN		inserm.fr	GRCh37	10	16982043	16982043	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2048T																					ENST00000377833.4:c.5536A>G	p.Thr1846Ala	p.T1846A	ENST00000377833	NM_001081.3	1846	Aca/Gca	0	not done		benign	
ABCB11		inserm.fr	GRCh37	2	169869893	169869893	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM483T									Valid												ENST00000263817.6:c.278A>G	p.Tyr93Cys	p.Y93C	ENST00000263817	NM_003742.2	93	tAc/tGc	0	validated		probablydamaging	
WDR27		inserm.fr	GRCh37	6	170013670	170013670	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2034T																					ENST00000448612.1:c.2306A>G	p.Asp769Gly	p.D769G	ENST00000448612	NM_182552.4	769	gAc/gGc	0	not done		probablydamaging	
KIFAP3		inserm.fr	GRCh37	1	170024560	170024560	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1185T																					ENST00000361580.2:c.50A>G	p.Asn17Ser	p.N17S	ENST00000361580	NM_014970.3	17	aAt/aGt	0	not done		benign	
SH3RF1		inserm.fr	GRCh37	4	170043322	170043322	+	synonymous_variant	Silent	SNP	T	C	C			BCM723T																					ENST00000284637.9:c.1275A>G	p.Gly425=	p.G425=	ENST00000284637	NM_020870.3	425	ggA/ggG	0	validated		synonymous	
GABRP		inserm.fr	GRCh37	5	170239105	170239105	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCB109T																					ENST00000518525.1:c.1166A>C	p.Asp389Ala	p.D389A	ENST00000518525		389	gAc/gCc	0	validated		benign	
RANBP17		inserm.fr	GRCh37	5	170289050	170289050	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2213T																					ENST00000523189.1:c.13T>C	p.Phe5Leu	p.F5L	ENST00000523189	NM_022897.3	5	Ttc/Ctc	0	validated		benign	
FASTKD1		inserm.fr	GRCh37	2	170401248	170401248	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2127T																					ENST00000453153.2:c.1799A>G	p.His600Arg	p.H600R	ENST00000453153	NM_024622.4	600	cAt/cGt	0	not done		benign	
FASTKD1		inserm.fr	GRCh37	2	170417197	170417197	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2111T																					ENST00000453153.2:c.671A>G	p.Asp224Gly	p.D224G	ENST00000453153	NM_024622.4	224	gAt/gGt	0	not done		probablydamaging	
PLCL2		inserm.fr	GRCh37	3	17052123	17052123	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC805T																					ENST00000418129.2:c.907A>C	p.Lys303Gln	p.K303Q	ENST00000418129	NM_001144382.1	303	Aag/Cag	0	not done		benign	
SLC2A2		inserm.fr	GRCh37	3	170716084	170716084	+	synonymous_variant	Silent	SNP	A	C	C			CHC2099T																					ENST00000314251.3:c.1272T>G	p.Ala424=	p.A424=	ENST00000314251	NM_001278659.1	424	gcT/gcG	0	not done		synonymous	
SLC2A2		inserm.fr	GRCh37	3	170723166	170723166	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1148T																					ENST00000314251.3:c.871A>G	p.Ile291Val	p.I291V	ENST00000314251	NM_001278659.1	291	Ata/Gta	0	not done		benign	
SLC2A2		inserm.fr	GRCh37	3	170723213	170723213	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1775T																					ENST00000314251.3:c.824A>G	p.Glu275Gly	p.E275G	ENST00000314251	NM_001278659.1	275	gAa/gGa	0	validated		probablydamaging	
CUBN		inserm.fr	GRCh37	10	17085858	17085858	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1205T																					ENST00000377833.4:c.3797A>G	p.Gln1266Arg	p.Q1266R	ENST00000377833	NM_001081.3	1266	cAa/cGa	0	not done		possiblydamaging	
TNIK		inserm.fr	GRCh37	3	170893090	170893090	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1061T																					ENST00000436636.2:c.724C>G	p.Leu242Val	p.L242V	ENST00000436636	NM_015028.2	242	Ctc/Gtc	0	validated		possiblydamaging	
TNIK		inserm.fr	GRCh37	3	170945998	170945998	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC465T									Valid												ENST00000436636.2:c.136A>G	p.Lys46Glu	p.K46E	ENST00000436636	NM_015028.2	46	Aaa/Gaa	0	validated		probablydamaging	
FLCN		inserm.fr	GRCh37	17	17117072	17117072	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1209T																					ENST00000285071.4:c.1637A>G	p.Asn546Ser	p.N546S	ENST00000285071	NM_144997.5	546	aAt/aGt	0	not done		probablydamaging	
CPAMD8		inserm.fr	GRCh37	19	17122469	17122469	+	synonymous_variant	Silent	SNP	G	C	C			CHC314T																					ENST00000443236.1:c.507C>G	p.Thr169=	p.T169=	ENST00000443236	NM_015692.2	169	acC/acG	0	validated		synonymous	
MYO3B		inserm.fr	GRCh37	2	171262137	171262137	+	synonymous_variant	Silent	SNP	T	C	C			CHC2127T																					ENST00000408978.4:c.2514T>C	p.Ala838=	p.A838=	ENST00000408978	NM_138995.4	838	gcT/gcC	0	not done		synonymous	
MYO3B		inserm.fr	GRCh37	2	171358334	171358334	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC218T																					ENST00000408978.4:c.3329T>C	p.Ile1110Thr	p.I1110T	ENST00000408978	NM_138995.4	1110	aTa/aCa	0	validated		benign	
GAD1		inserm.fr	GRCh37	2	171700584	171700584	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB301T																					ENST00000358196.3:c.668T>C	p.Val223Ala	p.V223A	ENST00000358196	NM_000817.2	223	gTc/gCc	0	validated		possiblydamaging	
TLK1		inserm.fr	GRCh37	2	171854335	171854335	+	splice_acceptor_variant	Splice_Site	SNP	T	C	C			CHC2029T																					ENST00000431350.2:c.1905-2A>G		p.X635_splice	ENST00000431350				0	not done		damaging	
TLK1		inserm.fr	GRCh37	2	171863367	171863367	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC302T									Valid												ENST00000431350.2:c.1541A>G	p.Glu514Gly	p.E514G	ENST00000431350		514	gAa/gGa	0	validated		probablydamaging	
PIK3C2A		inserm.fr	GRCh37	11	17190955	17190955	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1035T																					ENST00000265970.7:c.334A>G	p.Lys112Glu	p.K112E	ENST00000265970	NM_002645.2	112	Aaa/Gaa	0	validated		benign	
FNDC3B		inserm.fr	GRCh37	3	171944671	171944671	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1186T																					ENST00000336824.4:c.198A>C	p.Glu66Asp	p.E66D	ENST00000336824	NM_001135095.1	66	gaA/gaC	0	not done		probablydamaging	
FNDC3B		inserm.fr	GRCh37	3	172046759	172046759	+	synonymous_variant	Silent	SNP	T	C	C			CHC898T																					ENST00000336824.4:c.1272T>C	p.Gly424=	p.G424=	ENST00000336824	NM_001135095.1	424	ggT/ggC	0	not done		synonymous	
XYLT1		inserm.fr	GRCh37	16	17211717	17211717	+	synonymous_variant	Silent	SNP	G	C	C			CHC1182T																					ENST00000261381.6:c.2343C>G	p.Thr781=	p.T781=	ENST00000261381	NM_022166.3	781	acC/acG	0	not done		synonymous	
SUCO		inserm.fr	GRCh37	1	172525032	172525032	+	synonymous_variant	Silent	SNP	T	C	C			CHC1591T																					ENST00000263688.3:c.312T>C	p.Ser104=	p.S104=	ENST00000263688	NM_014283.3	104	agT/agC	0	not done		synonymous	
SUCO		inserm.fr	GRCh37	1	172579338	172579338	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2141T																					ENST00000263688.3:c.3704A>C	p.Lys1235Thr	p.K1235T	ENST00000263688	NM_014283.3	1235	aAa/aCa	0	not done		possiblydamaging	
SLC25A12		inserm.fr	GRCh37	2	172671641	172671641	+	synonymous_variant	Silent	SNP	T	C	C			CHC465T																					ENST00000422440.2:c.1002A>G	p.Ser334=	p.S334=	ENST00000422440	NM_003705.4	334	tcA/tcG	0	validated		synonymous	
DLX1		inserm.fr	GRCh37	2	172952833	172952833	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC909T																					ENST00000361725.4:c.616T>C	p.Ser206Pro	p.S206P	ENST00000361725	NM_178120.4	206	Tct/Cct	0	validated		benign	
DLX1		inserm.fr	GRCh37	2	172952871	172952871	+	synonymous_variant	Silent	SNP	T	C	C			CHC909T																					ENST00000361725.4:c.654T>C	p.Pro218=	p.P218=	ENST00000361725	NM_178120.4	218	ccT/ccC	0	not done		synonymous	
HMP19		inserm.fr	GRCh37	5	173534399	173534399	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB231T									Valid												ENST00000303177.3:c.407T>C	p.Ile136Thr	p.I136T	ENST00000303177	NM_015980.4	136	aTc/aCc	0	validated		probablydamaging	
ST8SIA6		inserm.fr	GRCh37	10	17360702	17360702	+	downstream_gene_variant	3'Flank	SNP	T	C	C			BCM399T																								ENST00000377602	NM_001004470.1			0	validated			
ST8SIA6		inserm.fr	GRCh37	10	17365104	17365104	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1055T									Valid												ENST00000377602.4:c.688A>G	p.Thr230Ala	p.T230A	ENST00000377602	NM_001004470.1	230	Aca/Gca	0	validated		probablydamaging	
GNB1		inserm.fr	GRCh37	1	1737949	1737949	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1611T																					ENST00000378609.4:c.232A>G	p.Lys78Glu	p.K78E	ENST00000378609	NM_002074.3	78	Aaa/Gaa	0	not done		possiblydamaging	
RAPGEF4		inserm.fr	GRCh37	2	173901359	173901359	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC892T																					ENST00000397081.3:c.2792T>C	p.Met931Thr	p.M931T	ENST00000397081	NM_007023.3	931	aTg/aCg	0	not done		possiblydamaging	
NLGN1		inserm.fr	GRCh37	3	173998652	173998652	+	synonymous_variant	Silent	SNP	T	C	C			CHC1611T																					ENST00000457714.1:c.2031T>C	p.Ser677=	p.S677=	ENST00000457714	NM_014932.3	677	agT/agC	0	not done		synonymous	
HMGB2		inserm.fr	GRCh37	4	174254124	174254124	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1731T																					ENST00000296503.5:c.319T>G	p.Ser107Ala	p.S107A	ENST00000296503		107	Tct/Gct	0	not done		benign	
HAND2		inserm.fr	GRCh37	4	174450288	174450288	+	synonymous_variant	Silent	SNP	G	C	C			CHC059T																					ENST00000359562.4:c.153C>G	p.Pro51=	p.P51=	ENST00000359562	NM_021973.2	51	ccC/ccG	0	validated		synonymous	
GAB4		inserm.fr	GRCh37	22	17451016	17451016	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC793T									Valid												ENST00000400588.1:c.754C>G	p.Leu252Val	p.L252V	ENST00000400588	NM_001037814.1	252	Ctt/Gtt	0	validated		probablydamaging	
CNTLN		inserm.fr	GRCh37	9	17457522	17457522	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	C	C			CHC1182T																					ENST00000380647.3:c.3115A>C	p.Lys1039Gln	p.K1039Q	ENST00000380647		1039	Aag/Cag	0	not done		damaging	
ABCC8		inserm.fr	GRCh37	11	17464419	17464419	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1545T																					ENST00000389817.3:c.1478A>G	p.Asn493Ser	p.N493S	ENST00000389817		493	aAt/aGt	0	not done		benign	
DRD1		inserm.fr	GRCh37	5	174869811	174869811	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2099T																					ENST00000393752.2:c.292A>G	p.Ile98Val	p.I98V	ENST00000393752	NM_000794.3	98	Atc/Gtc	0	not done		benign	
TNN		inserm.fr	GRCh37	1	175063347	175063347	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC736T									Valid												ENST00000239462.4:c.1546G>C	p.Gly516Arg	p.G516R	ENST00000239462	NM_022093.1	516	Ggc/Cgc	0	validated		probablydamaging	
TNN		inserm.fr	GRCh37	1	175087842	175087842	+	synonymous_variant	Silent	SNP	G	C	C			CHC1531T																					ENST00000239462.4:c.2532G>C	p.Gly844=	p.G844=	ENST00000239462	NM_022093.1	844	ggG/ggC	0	not done		synonymous	
HRH2		inserm.fr	GRCh37	5	175110427	175110427	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2141T																					ENST00000377291.2:c.191A>C	p.Asp64Ala	p.D64A	ENST00000377291	NM_001131055.1	64	gAc/gCc	0	not done		probablydamaging	
HPGD		inserm.fr	GRCh37	4	175439126	175439126	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC912T									Valid												ENST00000296522.6:c.320A>G	p.Asn107Ser	p.N107S	ENST00000296522	NM_001256307.1	107	aAt/aGt	0	validated		probablydamaging	
PADI1		inserm.fr	GRCh37	1	17550117	17550117	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC2141T																					ENST00000375471.4:c.275T>C	p.Val92Ala	p.V92A	ENST00000375471	NM_013358.2	92	gTg/gCg	0	not done		probablydamaging	
KIAA1191		inserm.fr	GRCh37	5	175774960	175774960	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1732T																					ENST00000298569.4:c.673C>G	p.Leu225Val	p.L225V	ENST00000298569	NM_020444.3	225	Ctc/Gtc	0	not done		benign	
CLTB		inserm.fr	GRCh37	5	175837274	175837274	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC796T									Valid												ENST00000310418.4:c.218A>G	p.Asn73Ser	p.N73S	ENST00000310418	NM_007097.3	73	aAt/aGt	0	validated		probablydamaging	
CECR6		inserm.fr	GRCh37	22	17601291	17601291	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2048T																					ENST00000331437.3:c.727A>G	p.Ile243Val	p.I243V	ENST00000331437	NM_031890.3	243	Atc/Gtc	0	not done		benign	
CECR5		inserm.fr	GRCh37	22	17619559	17619559	+	synonymous_variant	Silent	SNP	T	C	C			BCM321T																					ENST00000336737.4:c.816A>G	p.Arg272=	p.R272=	ENST00000336737	NM_033070.2	272	agA/agG	0	validated		synonymous	
NUP153		inserm.fr	GRCh37	6	17646374	17646374	+	synonymous_variant	Silent	SNP	T	C	C			CHC793T																					ENST00000262077.2:c.1644A>G	p.Thr548=	p.T548=	ENST00000262077	NM_001278210.1	548	acA/acG	0	validated		synonymous	
GPM6A		inserm.fr	GRCh37	4	176573136	176573136	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC1739T																					ENST00000280187.7:c.390C>G	p.Phe130Leu	p.F130L	ENST00000280187	NM_005277.4	130	ttC/ttG	0	not done		benign	
FAM129C		inserm.fr	GRCh37	19	17662705	17662705	+	intron_variant	Intron	SNP	T	C	C			CHC798T																					ENST00000335393.4:c.1844-1417T>C		*615*	ENST00000335393	NM_173544.4			0	validated			
NSD1		inserm.fr	GRCh37	5	176639058	176639058	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1754T																					ENST00000439151.2:c.3658G>C	p.Glu1220Gln	p.E1220Q	ENST00000439151	NM_022455.4	1220	Gag/Cag	0	not done		benign	
TBL1XR1		inserm.fr	GRCh37	3	176767892	176767892	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC799T																					ENST00000430069.1:c.595A>G	p.Ser199Gly	p.S199G	ENST00000430069		199	Agt/Ggt	0	not done		benign	
F12		inserm.fr	GRCh37	5	176831350	176831350	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1743T																					ENST00000253496.3:c.865T>G	p.Tyr289Asp	p.Y289D	ENST00000253496	NM_000505.3	289	Tac/Gac	0	not done		probablydamaging	
GRK6		inserm.fr	GRCh37	5	176860617	176860617	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC896T																					ENST00000528793.1:c.678A>C	p.Lys226Asn	p.K226N	ENST00000528793		226	aaA/aaC	0	not done		probablydamaging	
GPM6A		inserm.fr	GRCh37	4	176923734	176923734	+	upstream_gene_variant	5'Flank	SNP	A	C	C			CHC2213T																								ENST00000280187	NM_005277.4			0	validated			
RAD51AP2		inserm.fr	GRCh37	2	17697912	17697912	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1062T																					ENST00000399080.2:c.1771T>G	p.Phe591Val	p.F591V	ENST00000399080	NM_001099218.2	591	Ttt/Gtt	0	validated		possiblydamaging	
WDR17		inserm.fr	GRCh37	4	177049912	177049912	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2099T																					ENST00000280190.4:c.886A>C	p.Ile296Leu	p.I296L	ENST00000280190		296	Att/Ctt	0	validated		benign	
WDR17		inserm.fr	GRCh37	4	177071093	177071093	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM617T																					ENST00000280190.4:c.2105T>C	p.Ile702Thr	p.I702T	ENST00000280190		702	aTt/aCt	0	validated		possiblydamaging	
WDR17		inserm.fr	GRCh37	4	177098251	177098251	+	synonymous_variant	Silent	SNP	T	C	C			CHC1010T																					ENST00000280190.4:c.3609T>C	p.Ile1203=	p.I1203=	ENST00000280190		1203	atT/atC	0	not done		synonymous	
UNC13A		inserm.fr	GRCh37	19	17737448	17737448	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC923T																					ENST00000519716.2:c.4067A>G	p.Asp1356Gly	p.D1356G	ENST00000519716	NM_001080421.2	1356	gAc/gGc	0	not done		possiblydamaging	
RMND5B		inserm.fr	GRCh37	5	177574636	177574636	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	C	C			CHC923T																					ENST00000515098.1:c.963G>C	p.Pro321=	p.P321=	ENST00000515098	NM_001288794.1	321	ccG/ccC	0	not done		damaging	
VEGFC		inserm.fr	GRCh37	4	177650813	177650813	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1182T																					ENST00000280193.2:c.235A>G	p.Lys79Glu	p.K79E	ENST00000280193	NM_005429.3	79	Aaa/Gaa	0	not done		possiblydamaging	
KIF13A		inserm.fr	GRCh37	6	17779195	17779195	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1597T																					ENST00000259711.6:c.4075C>G	p.Leu1359Val	p.L1359V	ENST00000259711	NM_022113.5	1359	Ctt/Gtt	0	not done		probablydamaging	
SH3GL2		inserm.fr	GRCh37	9	17795608	17795608	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC465T									Valid												ENST00000380607.4:c.926T>C	p.Leu309Ser	p.L309S	ENST00000380607	NM_003026.2	309	tTg/tCg	0	validated		probablydamaging	
NFE2L2		inserm.fr	GRCh37	2	178098800	178098800	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC614T									Valid												ENST00000397062.3:c.245A>G	p.Glu82Gly	p.E82G	ENST00000397062	NM_006164.4	82	gAa/gGa	0	validated		probablydamaging	
NFE2L2		inserm.fr	GRCh37	2	178098809	178098809	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM545T																					ENST00000397062.3:c.236A>G	p.Glu79Gly	p.E79G	ENST00000397062	NM_006164.4	79	gAg/gGg	0	validated		probablydamaging	
NFE2L2		inserm.fr	GRCh37	2	178098815	178098815	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1137T									Valid												ENST00000397062.3:c.230A>G	p.Asp77Gly	p.D77G	ENST00000397062	NM_006164.4	77	gAt/gGt	0	not done		probablydamaging	
NFE2L2		inserm.fr	GRCh37	2	178098815	178098815	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1732T									Valid												ENST00000397062.3:c.230A>G	p.Asp77Gly	p.D77G	ENST00000397062	NM_006164.4	77	gAt/gGt	0	validated		damaging	
NFE2L2		inserm.fr	GRCh37	2	178098959	178098959	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1207T									Valid												ENST00000397062.3:c.86A>G	p.Asp29Gly	p.D29G	ENST00000397062	NM_006164.4	29	gAt/gGt	0	not done		probablydamaging	
NFE2L2		inserm.fr	GRCh37	2	178098959	178098959	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC205T									Valid												ENST00000397062.3:c.86A>G	p.Asp29Gly	p.D29G	ENST00000397062	NM_006164.4	29	gAt/gGt	0	validated		probablydamaging	
NFE2L2		inserm.fr	GRCh37	2	178098977	178098977	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1751T									Valid												ENST00000397062.3:c.68T>G	p.Leu23Arg	p.L23R	ENST00000397062	NM_006164.4	23	cTt/cGt	0	not done		probablydamaging	
NFE2L2		inserm.fr	GRCh37	2	178098977	178098977	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2098T																					ENST00000397062.3:c.68T>G	p.Leu23Arg	p.L23R	ENST00000397062	NM_006164.4	23	cTt/cGt	0	not done		probablydamaging	
NCAPG		inserm.fr	GRCh37	4	17824662	17824662	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1741T																					ENST00000251496.2:c.1175T>C	p.Ile392Thr	p.I392T	ENST00000251496	NM_022346.4	392	aTt/aCt	0	not done		benign	
ZNF354B		inserm.fr	GRCh37	5	178310772	178310772	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1035T									Valid												ENST00000322434.3:c.1319G>C	p.Cys440Ser	p.C440S	ENST00000322434	NM_058230.2	440	tGt/tCt	0	validated		probablydamaging	
ZFP2		inserm.fr	GRCh37	5	178359435	178359435	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC896T																					ENST00000361362.2:c.1121T>C	p.Val374Ala	p.V374A	ENST00000361362	NM_030613.2	374	gTc/gCc	0	not done		possiblydamaging	
KIF13A		inserm.fr	GRCh37	6	17837134	17837134	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2127T																					ENST00000259711.6:c.1130T>G	p.Leu377Arg	p.L377R	ENST00000259711	NM_022113.5	377	cTg/cGg	0	not done		probablydamaging	
NCAPG		inserm.fr	GRCh37	4	17838843	17838843	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2362T																					ENST00000251496.2:c.2171T>C	p.Leu724Ser	p.L724S	ENST00000251496	NM_022346.4	724	tTg/tCg	0	validated		probablydamaging	
GRM6		inserm.fr	GRCh37	5	178413971	178413971	+	synonymous_variant	Silent	SNP	G	C	C			CHC1148T																					ENST00000231188.5:c.1368C>G	p.Thr456=	p.T456=	ENST00000231188	NM_000843.3	456	acC/acG	0	not done		synonymous	
PDE11A		inserm.fr	GRCh37	2	178565918	178565918	+	synonymous_variant	Silent	SNP	T	C	C			CHC1747T																					ENST00000286063.6:c.2175A>G	p.Gln725=	p.Q725=	ENST00000286063	NM_016953.3	725	caA/caG	0	not done		synonymous	
RALGPS2		inserm.fr	GRCh37	1	178852663	178852663	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1749T																					ENST00000367635.3:c.899T>C	p.Leu300Ser	p.L300S	ENST00000367635	NM_152663.3	300	tTa/tCa	0	not done		possiblydamaging	
SNX13		inserm.fr	GRCh37	7	17890047	17890047	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1185T																					ENST00000428135.3:c.988A>G	p.Ile330Val	p.I330V	ENST00000428135	NM_015132.4	330	Atc/Gtc	0	not done		benign	
MFN1		inserm.fr	GRCh37	3	179069808	179069808	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1591T																					ENST00000471841.1:c.233T>C	p.Val78Ala	p.V78A	ENST00000471841	NM_033540.2	78	gTg/gCg	0	not done		probablydamaging	
ATP8B3		inserm.fr	GRCh37	19	1792126	1792126	+	synonymous_variant	Silent	SNP	G	C	C			CHC1035T																					ENST00000310127.6:c.2064C>G	p.Ala688=	p.A688=	ENST00000310127	NM_138813.3	688	gcC/gcG	0	validated		synonymous	
OSBPL6		inserm.fr	GRCh37	2	179247805	179247805	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC793T									Valid												ENST00000392505.2:c.1751T>C	p.Leu584Pro	p.L584P	ENST00000392505	NM_001201480.1	584	cTg/cCg	0	validated		probablydamaging	
TBC1D9B		inserm.fr	GRCh37	5	179305436	179305436	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2208T																					ENST00000356834.3:c.1655A>G	p.Glu552Gly	p.E552G	ENST00000356834	NM_198868.2	552	gAg/gGg	0	not done		probablydamaging	
ASAH1		inserm.fr	GRCh37	8	17930773	17930773	+	intron_variant	Intron	SNP	A	C	C			CHC884T																					ENST00000381733.4:c.174-1874T>G		*58*	ENST00000381733	NM_004315.4			0	validated		synonymous	
PRKRA		inserm.fr	GRCh37	2	179315164	179315164	+	intron_variant	Intron	SNP	T	C	C			BCM337T																					ENST00000325748.4:c.66-26A>G		*22*	ENST00000325748	NM_003690.4			0	validated			
AXDND1		inserm.fr	GRCh37	1	179348585	179348585	+	synonymous_variant	Silent	SNP	T	C	C			BCM531T																					ENST00000367618.3:c.549T>C	p.Ser183=	p.S183=	ENST00000367618	NM_144696.5	183	agT/agC	0	validated		synonymous	
TTN		inserm.fr	GRCh37	2	179391772	179391772	+	synonymous_variant	Silent	SNP	A	C	C			CHC451T																					ENST00000589042.1:c.107943T>G	p.Ser35981=	p.S35981=	ENST00000589042	NM_001267550.1	35981	tcT/tcG	0	not done		synonymous	
TTN		inserm.fr	GRCh37	2	179413897	179413897	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM695T																					ENST00000589042.1:c.92456T>G	p.Val30819Gly	p.V30819G	ENST00000589042	NM_001267550.1	30819	gTc/gGc	0	validated		probablydamaging	
TTN		inserm.fr	GRCh37	2	179438046	179438046	+	synonymous_variant	Silent	SNP	T	C	C			CHC2052T																					ENST00000589042.1:c.72813A>G	p.Lys24271=	p.K24271=	ENST00000589042	NM_001267550.1	24271	aaA/aaG	0	not done		synonymous	
TTN		inserm.fr	GRCh37	2	179447859	179447859	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC794T																					ENST00000589042.1:c.65671C>G	p.Pro21891Ala	p.P21891A	ENST00000589042	NM_001267550.1	21891	Ccg/Gcg	0	validated		probablydamaging	
TTN		inserm.fr	GRCh37	2	179452515	179452515	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1732T																					ENST00000589042.1:c.63521T>G	p.Ile21174Ser	p.I21174S	ENST00000589042	NM_001267550.1	21174	aTt/aGt	0	not done		probablydamaging	
USP13		inserm.fr	GRCh37	3	179462893	179462893	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2200T																					ENST00000263966.3:c.1597G>C	p.Glu533Gln	p.E533Q	ENST00000263966	NM_003940.2	533	Gag/Cag	0	not done		probablydamaging	
TTN		inserm.fr	GRCh37	2	179485579	179485579	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2208T																					ENST00000589042.1:c.45758A>G	p.Tyr15253Cys	p.Y15253C	ENST00000589042	NM_001267550.1	15253	tAc/tGc	0	not done		benign	
TTN		inserm.fr	GRCh37	2	179528615	179528615	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1712T																					ENST00000589042.1:c.36379A>G	p.Lys12127Glu	p.K12127E	ENST00000589042	NM_001267550.1	12127	Aaa/Gaa	0	not done		benign	
TTN		inserm.fr	GRCh37	2	179567271	179567271	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM723T																					ENST00000589042.1:c.30343A>G	p.Thr10115Ala	p.T10115A	ENST00000589042	NM_001267550.1	10115	Aca/Gca	0	validated		probablydamaging	
TTN		inserm.fr	GRCh37	2	179584875	179584875	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2111T																					ENST00000589042.1:c.23494A>G	p.Arg7832Gly	p.R7832G	ENST00000589042	NM_001267550.1	7832	Aga/Gga	0	not done		benign	
TTN		inserm.fr	GRCh37	2	179595834	179595834	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1744T																					ENST00000589042.1:c.17558C>G	p.Thr5853Arg	p.T5853R	ENST00000589042	NM_001267550.1	5853	aCa/aGa	0	not done		benign	
TDRD5		inserm.fr	GRCh37	1	179621235	179621235	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC304T																					ENST00000444136.1:c.2063T>C	p.Ile688Thr	p.I688T	ENST00000444136	NM_001199089.1	688	aTt/aCt	0	validated		benign	
GEN1		inserm.fr	GRCh37	2	17962394	17962394	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM723T																					ENST00000381254.2:c.1915T>C	p.Tyr639His	p.Y639H	ENST00000381254	NM_001130009.1	639	Tac/Cac	0	validated		benign	
GEN1		inserm.fr	GRCh37	2	17962514	17962514	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1603T																					ENST00000381254.2:c.2035T>C	p.Phe679Leu	p.F679L	ENST00000381254	NM_001130009.1	679	Ttt/Ctt	0	not done		benign	
TTN		inserm.fr	GRCh37	2	179640671	179640671	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1148T																					ENST00000589042.1:c.5920A>G	p.Lys1974Glu	p.K1974E	ENST00000589042	NM_001267550.1	1974	Aaa/Gaa	0	not done		possiblydamaging	
SESTD1		inserm.fr	GRCh37	2	179979965	179979965	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2216T																					ENST00000428443.3:c.1666A>G	p.Arg556Gly	p.R556G	ENST00000428443	NM_178123.4	556	Agg/Ggg	0	not done		probablydamaging	
FLT4		inserm.fr	GRCh37	5	180048250	180048250	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			BCM567T																					ENST00000261937.6:c.2023C>G	p.Leu675Val	p.L675V	ENST00000261937	NM_182925.4	675	Ctg/Gtg	0	validated		possiblydamaging	
OVOL2		inserm.fr	GRCh37	20	18038202	18038202	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM545T																					ENST00000278780.6:c.77A>G	p.Lys26Arg	p.K26R	ENST00000278780	NM_021220.2	26	aAa/aGa	0	validated		benign	
ACBD6		inserm.fr	GRCh37	1	180382585	180382585	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC798T									Valid												ENST00000367595.3:c.489T>G	p.Phe163Leu	p.F163L	ENST00000367595	NM_032360.3	163	ttT/ttG	0	validated		probablydamaging	
ACBD6		inserm.fr	GRCh37	1	180399338	180399338	+	synonymous_variant	Silent	SNP	A	C	C			CHC1715T																					ENST00000367595.3:c.444T>G	p.Ser148=	p.S148=	ENST00000367595	NM_032360.3	148	tcT/tcG	0	not done		synonymous	
MYO15A		inserm.fr	GRCh37	17	18042868	18042868	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM337T																					ENST00000205890.5:c.5154G>C	p.Lys1718Asn	p.K1718N	ENST00000205890	NM_016239.3	1718	aaG/aaC	0	validated		probablydamaging	
OR2V2		inserm.fr	GRCh37	5	180582579	180582579	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC793T									Valid												ENST00000328275.1:c.637T>C	p.Ser213Pro	p.S213P	ENST00000328275	NM_206880.1	213	Tcc/Ccc	0	validated		probablydamaging	
XPR1		inserm.fr	GRCh37	1	180805686	180805686	+	synonymous_variant	Silent	SNP	T	C	C			CHC923T																					ENST00000367590.4:c.1335T>C	p.Tyr445=	p.Y445=	ENST00000367590	NM_004736.3	445	taT/taC	0	not done		synonymous	
CWC22		inserm.fr	GRCh37	2	180809992	180809992	+	stop_gained	Nonsense_Mutation	SNP	G	C	C			CHC1746T																					ENST00000410053.3:c.2591C>G	p.Ser864Ter	p.S864*	ENST00000410053	NM_020943.2	864	tCa/tGa	0	not done		damaging	
CWC22		inserm.fr	GRCh37	2	180815577	180815577	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC197T									Valid												ENST00000410053.3:c.1894A>G	p.Thr632Ala	p.T632A	ENST00000410053	NM_020943.2	632	Act/Gct	0	validated		probablydamaging	
CWC22		inserm.fr	GRCh37	2	180829341	180829341	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1746T																					ENST00000410053.3:c.1330A>G	p.Ile444Val	p.I444V	ENST00000410053	NM_020943.2	444	Att/Gtt	0	not done		benign	
NHLRC1		inserm.fr	GRCh37	6	18121894	18121894	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2216T																					ENST00000340650.3:c.944A>G	p.Tyr315Cys	p.Y315C	ENST00000340650	NM_198586.2	315	tAc/tGc	0	not done		benign	
CSRP2BP		inserm.fr	GRCh37	20	18123385	18123385	+	synonymous_variant	Silent	SNP	G	C	C			CHC793T																					ENST00000435364.3:c.81G>C	p.Leu27=	p.L27=	ENST00000435364	NM_020536.4	27	ctG/ctC	0	validated		synonymous	
SOX2		inserm.fr	GRCh37	3	181430399	181430399	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2034T																					ENST00000325404.1:c.251A>C	p.Glu84Ala	p.E84A	ENST00000325404	NM_003106.3	84	gAg/gCg	0	not done		possiblydamaging	
CACNA1E		inserm.fr	GRCh37	1	181480526	181480526	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM399T									Valid												ENST00000367573.2:c.392T>C	p.Phe131Ser	p.F131S	ENST00000367573	NM_001205293.1	131	tTc/tCc	0	validated		probablydamaging	
ACTL8		inserm.fr	GRCh37	1	18149537	18149537	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC429T									Valid												ENST00000375406.1:c.34T>C	p.Ser12Pro	p.S12P	ENST00000375406	NM_030812.2	12	Tct/Cct	0	validated		probablydamaging	
REXO1		inserm.fr	GRCh37	19	1816275	1816275	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2034T																					ENST00000170168.4:c.3526T>G	p.Ser1176Ala	p.S1176A	ENST00000170168	NM_020695.3	1176	Tcc/Gcc	0	not done		benign	
CSRP2BP		inserm.fr	GRCh37	20	18165259	18165259	+	synonymous_variant	Silent	SNP	T	C	C			CHC798T																					ENST00000435364.3:c.1998T>C	p.Ser666=	p.S666=	ENST00000435364	NM_020536.4	666	tcT/tcC	0	validated		synonymous	
GLUL		inserm.fr	GRCh37	1	182353852	182353852	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM723T																					ENST00000311223.5:c.810C>G	p.Ile270Met	p.I270M	ENST00000311223	NM_002065.5	270	atC/atG	0	validated		possiblydamaging	
RNASEL		inserm.fr	GRCh37	1	182555382	182555382	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC896T																					ENST00000367559.3:c.560T>G	p.Leu187Arg	p.L187R	ENST00000367559	NM_021133.3	187	cTc/cGc	0	not done		probablydamaging	
SAA4		inserm.fr	GRCh37	11	18257397	18257397	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2358T																					ENST00000278222.4:c.77A>G	p.Lys26Arg	p.K26R	ENST00000278222	NM_006512.3	26	aAg/aGg	0	validated		benign	
ATP11B		inserm.fr	GRCh37	3	182603798	182603798	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	C	C			CHC961T									Valid												ENST00000323116.5:c.2715A>C	p.Gln905His	p.Q905H	ENST00000323116	NM_014616.2	905	caA/caC	0	validated		probablydamaging	
DCUN1D1		inserm.fr	GRCh37	3	182681835	182681835	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC1700T																					ENST00000292782.4:c.223C>G	p.Pro75Ala	p.P75A	ENST00000292782	NM_020640.2	75	Cct/Gct	0	not done		probablydamaging	
PDE1A		inserm.fr	GRCh37	2	183066260	183066260	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM325T																					ENST00000435564.1:c.1079T>G	p.Leu360Arg	p.L360R	ENST00000435564	NM_001258312.1	360	cTg/cGg	0	validated		probablydamaging	
SLC39A12		inserm.fr	GRCh37	10	18331645	18331645	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1743T																					ENST00000377369.2:c.1959G>C	p.Met653Ile	p.M653I	ENST00000377369	NM_001145195.1	653	atG/atC	0	not done		possiblydamaging	
SCML2		inserm.fr	GRCh37	X	18338508	18338508	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM397T																					ENST00000251900.4:c.430T>G	p.Phe144Val	p.F144V	ENST00000251900	NM_006089.2	144	Ttc/Gtc	0	validated		probablydamaging	
PARL		inserm.fr	GRCh37	3	183585832	183585832	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1602T																					ENST00000317096.4:c.142C>G	p.Gln48Glu	p.Q48E	ENST00000317096	NM_018622.5	48	Caa/Gaa	0	not done		possiblydamaging	
TENM3		inserm.fr	GRCh37	4	183652133	183652133	+	synonymous_variant	Silent	SNP	T	C	C			CHC909T																					ENST00000511685.1:c.2808T>C	p.Phe936=	p.F936=	ENST00000511685		936	ttT/ttC	0	not done		synonymous	
KIAA1683		inserm.fr	GRCh37	19	18368617	18368617	+	synonymous_variant	Silent	SNP	G	C	C			CHC1624T																					ENST00000392413.4:c.3477C>G	p.Leu1159=	p.L1159=	ENST00000392413	NM_001145304.1	1159	ctC/ctG	0	validated		synonymous	
ABCC5		inserm.fr	GRCh37	3	183703168	183703168	+	intron_variant	Intron	SNP	T	C	C			CHC303T									Valid												ENST00000334444.6:c.592-2373A>G		*198*	ENST00000334444	NM_005688.2			0	validated		possiblydamaging	
GTF2H1		inserm.fr	GRCh37	11	18379501	18379501	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	C	C			CHC801T																					ENST00000265963.4:c.1263T>C	p.Val421=	p.V421=	ENST00000265963	NM_005316.3	421	gtT/gtC	0	not done		synonymous	
ALG3		inserm.fr	GRCh37	3	183963339	183963339	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC805T																					ENST00000397676.3:c.361A>G	p.Ile121Val	p.I121V	ENST00000397676	NM_005787.5	121	Atc/Gtc	0	not done		possiblydamaging	
GLT25D2		inserm.fr	GRCh37	1	184006233	184006233	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2206T																					ENST00000361927.4:c.259A>G	p.Ile87Val	p.I87V	ENST00000361927	NM_015101.2	87	Atc/Gtc	0	not done		benign	
PSMD2		inserm.fr	GRCh37	3	184018125	184018125	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1154T																					ENST00000310118.4:c.250T>C	p.Ser84Pro	p.S84P	ENST00000310118	NM_002808.4	84	Tct/Cct	0	not done		probablydamaging	
EIF4G1		inserm.fr	GRCh37	3	184043660	184043660	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM399T																					ENST00000424196.1:c.3164A>C	p.Asp1055Ala	p.D1055A	ENST00000424196		1055	gAt/gCt	0	validated		probablydamaging	
CHRD		inserm.fr	GRCh37	3	184098193	184098193	+	synonymous_variant	Silent	SNP	A	C	C			CHC2113T																					ENST00000204604.1:c.87A>C	p.Pro29=	p.P29=	ENST00000204604	NM_003741.2	29	ccA/ccC	0	validated		synonymous	
EPHB3		inserm.fr	GRCh37	3	184299064	184299064	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM735T																					ENST00000330394.2:c.2756G>C	p.Arg919Pro	p.R919P	ENST00000330394	NM_004443.3	919	cGc/cCc	0	validated		probablydamaging	
TRAPPC11		inserm.fr	GRCh37	4	184585171	184585171	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC432T																					ENST00000334690.6:c.151A>C	p.Ile51Leu	p.I51L	ENST00000334690	NM_021942.5	51	Att/Ctt	0	not done		benign	
TRAPPC11		inserm.fr	GRCh37	4	184614770	184614770	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM545T																					ENST00000334690.6:c.2266G>C	p.Val756Leu	p.V756L	ENST00000334690	NM_021942.5	756	Gta/Cta	0	validated		benign	
STOX2		inserm.fr	GRCh37	4	184931841	184931841	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC451T																					ENST00000308497.4:c.1850T>C	p.Leu617Pro	p.L617P	ENST00000308497	NM_020225.1	617	cTg/cCg	0	validated		probablydamaging	
EHHADH		inserm.fr	GRCh37	3	184936003	184936003	+	synonymous_variant	Silent	SNP	T	C	C			CHC1715T																					ENST00000231887.3:c.489A>G	p.Ala163=	p.A163=	ENST00000231887	NM_001166415.1	163	gcA/gcG	0	not done		synonymous	
MAP3K13		inserm.fr	GRCh37	3	185198199	185198199	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2141T																					ENST00000265026.3:c.2681A>C	p.Glu894Ala	p.E894A	ENST00000265026	NM_004721.4	894	gAg/gCg	0	not done		possiblydamaging	
TSG101		inserm.fr	GRCh37	11	18536347	18536347	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC889T																					ENST00000251968.3:c.235A>G	p.Thr79Ala	p.T79A	ENST00000251968	NM_006292.3	79	Aca/Gca	0	not done		probablydamaging	
TRA2B		inserm.fr	GRCh37	3	185638937	185638937	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000453386.2:c.677A>G	p.Tyr226Cys	p.Y226C	ENST00000453386	NM_004593.2	226	tAt/tGt	0	not done		possiblydamaging	
ZNF804A		inserm.fr	GRCh37	2	185800570	185800570	+	synonymous_variant	Silent	SNP	T	C	C			CHC433T																					ENST00000302277.6:c.447T>C	p.Asn149=	p.N149=	ENST00000302277	NM_194250.1	149	aaT/aaC	0	validated		synonymous	
ZNF804A		inserm.fr	GRCh37	2	185802290	185802290	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2052T																					ENST00000302277.6:c.2167T>C	p.Cys723Arg	p.C723R	ENST00000302277	NM_194250.1	723	Tgt/Cgt	0	not done		probablydamaging	
HMCN1		inserm.fr	GRCh37	1	185897765	185897765	+	synonymous_variant	Silent	SNP	T	C	C			CHC1183T																					ENST00000271588.4:c.1518T>C	p.Gly506=	p.G506=	ENST00000271588	NM_031935.2	506	ggT/ggC	0	not done		synonymous	
HMCN1		inserm.fr	GRCh37	1	185956576	185956576	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC432T																					ENST00000271588.4:c.2948T>C	p.Ile983Thr	p.I983T	ENST00000271588	NM_031935.2	983	aTt/aCt	0	not done		probablydamaging	
HMCN1		inserm.fr	GRCh37	1	186010229	186010229	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC465T									Valid												ENST00000271588.4:c.6265G>C	p.Ala2089Pro	p.A2089P	ENST00000271588	NM_031935.2	2089	Gct/Cct	0	validated		probablydamaging	
HMCN1		inserm.fr	GRCh37	1	186088426	186088426	+	synonymous_variant	Silent	SNP	T	C	C			CHC2098T																					ENST00000271588.4:c.11952T>C	p.Val3984=	p.V3984=	ENST00000271588	NM_031935.2	3984	gtT/gtC	0	not done		synonymous	
CRYGS		inserm.fr	GRCh37	3	186256754	186256754	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC798T																					ENST00000392499.2:c.268A>G	p.Ser90Gly	p.S90G	ENST00000392499	NM_017541.2	90	Agt/Ggt	0	validated		benign	
TPR		inserm.fr	GRCh37	1	186316582	186316582	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2362T																					ENST00000367478.4:c.2785A>G	p.Ser929Gly	p.S929G	ENST00000367478	NM_003292.2	929	Agc/Ggc	0	validated		benign	
UFSP2		inserm.fr	GRCh37	4	186336348	186336348	+	synonymous_variant	Silent	SNP	A	C	C			CHC961T																					ENST00000264689.6:c.645T>G	p.Pro215=	p.P215=	ENST00000264689	NM_018359.3	215	ccT/ccG	0	validated		synonymous	
UFSP2		inserm.fr	GRCh37	4	186336389	186336389	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM269T																					ENST00000264689.6:c.604T>G	p.Leu202Val	p.L202V	ENST00000264689	NM_018359.3	202	Tta/Gta	0	validated		benign	
C1orf27		inserm.fr	GRCh37	1	186355160	186355160	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2034T																					ENST00000287859.6:c.275T>C	p.Val92Ala	p.V92A	ENST00000287859	NM_017847.5	92	gTa/gCa	0	not done		possiblydamaging	
PDLIM3		inserm.fr	GRCh37	4	186446213	186446213	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T									Valid												ENST00000284770.5:c.206T>G	p.Ile69Ser	p.I69S	ENST00000284770	NM_014476.5	69	aTt/aGt	0	validated		possiblydamaging	
KNG1		inserm.fr	GRCh37	3	186456933	186456933	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1154T																					ENST00000265023.4:c.976A>C	p.Thr326Pro	p.T326P	ENST00000265023	NM_001102416.2	326	Acc/Ccc	0	not done		probablydamaging	
RFC4		inserm.fr	GRCh37	3	186510684	186510684	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2351T																					ENST00000392481.2:c.463A>G	p.Met155Val	p.M155V	ENST00000392481	NM_181573.2	155	Atg/Gtg	0	not done		probablydamaging	
SORBS2		inserm.fr	GRCh37	4	186544985	186544985	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC304T																					ENST00000355634.5:c.1886A>G	p.Asp629Gly	p.D629G	ENST00000355634	NM_001270771.1	629	gAc/gGc	0	validated		benign	
SORBS2		inserm.fr	GRCh37	4	186548093	186548093	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC609T																					ENST00000355634.5:c.1115A>G	p.Gln372Arg	p.Q372R	ENST00000355634	NM_001270771.1	372	cAa/cGa	0	validated		probablydamaging	
FSIP2		inserm.fr	GRCh37	2	186670458	186670458	+	synonymous_variant	Silent	SNP	T	C	C			CHC304T																					ENST00000343098.5:c.16692T>C	p.Phe5564=	p.F5564=	ENST00000343098	NM_173651.2	5564	ttT/ttC	0	validated		synonymous	
MASP1		inserm.fr	GRCh37	3	186953489	186953489	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM759T																					ENST00000296280.6:c.2170C>G	p.Pro724Ala	p.P724A	ENST00000296280	NM_139125.3	724	Ccc/Gcc	0	validated		benign	
MASP1		inserm.fr	GRCh37	3	186980342	186980342	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC301T									Valid												ENST00000296280.6:c.404A>G	p.Tyr135Cys	p.Y135C	ENST00000296280	NM_139125.3	135	tAc/tGc	0	validated		probablydamaging	
F11		inserm.fr	GRCh37	4	187201167	187201167	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	C	C			CHC1756T																					ENST00000403665.2:c.757A>C	p.Asn253His	p.N253H	ENST00000403665	NM_000128.3	253	Aat/Cat	0	not done		damaging	
DTD1		inserm.fr	GRCh37	20	18724856	18724856	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM759T									Valid												ENST00000377452.3:c.590G>C	p.Ser197Thr	p.S197T	ENST00000377452	NM_080820.4	197	aGc/aCc	0	validated		possiblydamaging	
PSD3		inserm.fr	GRCh37	8	18729634	18729634	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC433T									Valid												ENST00000327040.8:c.740C>G	p.Ser247Cys	p.S247C	ENST00000327040	NM_015310.3	247	tCt/tGt	0	validated		benign	
ZC3H15		inserm.fr	GRCh37	2	187368899	187368899	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1708T																					ENST00000337859.6:c.675G>C	p.Glu225Asp	p.E225D	ENST00000337859	NM_018471.2	225	gaG/gaC	0	not done		benign	
FAT1		inserm.fr	GRCh37	4	187630036	187630036	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000441802.2:c.946A>G	p.Lys316Glu	p.K316E	ENST00000441802	NM_005245.3	316	Aaa/Gaa	0	not done		possiblydamaging	
NT5C1B		inserm.fr	GRCh37	2	18765976	18765976	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC197T																					ENST00000359846.2:c.707C>G	p.Ser236Trp	p.S236W	ENST00000359846	NM_001199086.1	236	tCg/tGg	0	validated		probablydamaging	
IRX4		inserm.fr	GRCh37	5	1879800	1879800	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2113T																					ENST00000505790.1:c.554C>G	p.Thr185Ser	p.T185S	ENST00000505790	NM_001278634.1	185	aCc/aGc	0	not done		probablydamaging	
SLC5A10		inserm.fr	GRCh37	17	18872670	18872670	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1731T																					ENST00000395647.2:c.575T>C	p.Val192Ala	p.V192A	ENST00000395647	NM_152351.4	192	gTa/gCa	0	not done		probablydamaging	
FAM83G		inserm.fr	GRCh37	17	18874891	18874891	+	synonymous_variant	Silent	SNP	T	C	C			CHC2115T																					ENST00000388995.6:c.2253A>G	p.Val751=	p.V751=	ENST00000388995		751	gtA/gtG	0	not done		synonymous	
PLCZ1		inserm.fr	GRCh37	12	18889218	18889218	+	synonymous_variant	Silent	SNP	A	C	C			CHC1183T																					ENST00000266505.7:c.72T>G	p.Thr24=	p.T24=	ENST00000266505		24	acT/acG	0	not done		synonymous	
TRIML2		inserm.fr	GRCh37	4	189018489	189018489	+	stop_gained	Nonsense_Mutation	SNP	G	C	C			CHC2200T																					ENST00000512729.1:c.483C>G	p.Tyr161Ter	p.Y161*	ENST00000512729	NM_173553.1	161	taC/taG	0	not done		damaging	
TRIML2		inserm.fr	GRCh37	4	189018492	189018492	+	synonymous_variant	Silent	SNP	T	C	C			CHC432T																					ENST00000512729.1:c.480A>G	p.Lys160=	p.K160=	ENST00000512729	NM_173553.1	160	aaA/aaG	0	not done		synonymous	
ARL5B		inserm.fr	GRCh37	10	18955555	18955555	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC327T																					ENST00000377275.3:c.98T>C	p.Leu33Pro	p.L33P	ENST00000377275	NM_178815.3	33	cTt/cCt	0	validated		probablydamaging	
COL3A1		inserm.fr	GRCh37	2	189867777	189867777	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM397T																					ENST00000304636.3:c.2542T>C	p.Ser848Pro	p.S848P	ENST00000304636	NM_000090.3	848	Tct/Cct	0	validated		benign	
FAM5C		inserm.fr	GRCh37	1	190068266	190068266	+	splice_acceptor_variant	Splice_Site	SNP	T	C	C			CHC465T									Valid												ENST00000367462.3:c.1185-2A>G		p.X395_splice	ENST00000367462	NM_199051.1			0	validated		damaging	
CLDN16		inserm.fr	GRCh37	3	190126245	190126245	+	synonymous_variant	Silent	SNP	T	C	C			CHC794T																					ENST00000264734.2:c.735T>C	p.Gly245=	p.G245=	ENST00000264734	NM_006580.3	245	ggT/ggC	0	validated		synonymous	
FAM5C		inserm.fr	GRCh37	1	190234057	190234057	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC703T																					ENST00000367462.3:c.556A>G	p.Ile186Val	p.I186V	ENST00000367462	NM_199051.1	186	Att/Gtt	0	validated		possiblydamaging	
LSP1		inserm.fr	GRCh37	11	1902771	1902771	+	synonymous_variant	Silent	SNP	T	C	C			CHC884T																					ENST00000381775.1:c.685T>C	p.Leu229=	p.L229=	ENST00000381775	NM_001242932.1	229	Ttg/Ctg	0	validated		synonymous	
IL1RAP		inserm.fr	GRCh37	3	190347215	190347215	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T																					ENST00000317757.3:c.979A>C	p.Lys327Gln	p.K327Q	ENST00000317757	NM_001167931.1	327	Aag/Cag	0	validated		benign	
HOMER3		inserm.fr	GRCh37	19	19049557	19049557	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1598T																					ENST00000539827.1:c.151A>G	p.Ile51Val	p.I51V	ENST00000539827		51	Atc/Gtc	0	validated		probablydamaging	
ASNSD1		inserm.fr	GRCh37	2	190531306	190531306	+	synonymous_variant	Silent	SNP	T	C	C			CHC889T																					ENST00000260952.4:c.448T>C	p.Leu150=	p.L150=	ENST00000260952	NM_019048.2	150	Ttg/Ctg	0	not done		synonymous	
ANKAR		inserm.fr	GRCh37	2	190592767	190592767	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1603T																					ENST00000520309.1:c.2821A>C	p.Ile941Leu	p.I941L	ENST00000520309	NM_144708.3	941	Ata/Cta	0	not done		probablydamaging	
DUX2		inserm.fr	GRCh37	4	190989599	190989599	+	non_coding_transcript_exon_variant	RNA	SNP	G	C	C			CHC303T																					ENST00000536428.1:n.804G>C		*268*	ENST00000536428				0	validated		synonymous	
DUX4L4		inserm.fr	GRCh37	4	191003328	191003328	+	synonymous_variant	Silent	SNP	G	C	C			CHC912T																					ENST00000538692.1:c.1239G>C	p.Ala413=	p.A413=	ENST00000538692	NM_001177376.2	413	gcG/gcC	0	validated		synonymous	
C2orf88		inserm.fr	GRCh37	2	191064769	191064769	+	synonymous_variant	Silent	SNP	T	C	C			CHC2216T																					ENST00000340623.4:c.183T>C	p.Tyr61=	p.Y61=	ENST00000340623	NM_001042519.1	61	taT/taC	0	not done		synonymous	
MFSD6		inserm.fr	GRCh37	2	191362396	191362396	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1602T																					ENST00000392328.1:c.2123T>C	p.Met708Thr	p.M708T	ENST00000392328	NM_017694.3	708	aTg/aCg	0	not done		probablydamaging	
NAB1		inserm.fr	GRCh37	2	191537846	191537846	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC912T									Valid												ENST00000337386.5:c.973G>C	p.Asp325His	p.D325H	ENST00000337386	NM_005966.3	325	Gat/Cat	0	validated		probablydamaging	
SLC25A42		inserm.fr	GRCh37	19	19212622	19212622	+	synonymous_variant	Silent	SNP	G	C	C			CHC432T																					ENST00000318596.7:c.114G>C	p.Leu38=	p.L38=	ENST00000318596	NM_178526.4	38	ctG/ctC	0	not done		synonymous	
MYO1B		inserm.fr	GRCh37	2	192273899	192273899	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM439T																					ENST00000392318.3:c.2761T>C	p.Trp921Arg	p.W921R	ENST00000392318	NM_001130158.1	921	Tgg/Cgg	0	validated		probablydamaging	
SH2D4A		inserm.fr	GRCh37	8	19250867	19250867	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC798T									Valid												ENST00000265807.3:c.1087A>C	p.Ser363Arg	p.S363R	ENST00000265807	NM_022071.3	363	Agc/Cgc	0	validated		possiblydamaging	
SLC24A3		inserm.fr	GRCh37	20	19261606	19261606	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1594T																					ENST00000328041.6:c.146T>C	p.Leu49Pro	p.L49P	ENST00000328041	NM_020689.3	49	cTt/cCt	0	not done		benign	
ATP13A5		inserm.fr	GRCh37	3	193036884	193036884	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1035T									Valid												ENST00000342358.4:c.1929C>G	p.Phe643Leu	p.F643L	ENST00000342358	NM_198505.2	643	ttC/ttG	0	validated		possiblydamaging	
CDC73		inserm.fr	GRCh37	1	193205439	193205439	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1211T																					ENST00000367435.3:c.1370G>C	p.Trp457Ser	p.W457S	ENST00000367435	NM_024529.4	457	tGg/tCg	0	not done		probablydamaging	
NCAN		inserm.fr	GRCh37	19	19339377	19339377	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1598T																					ENST00000252575.6:c.2948T>C	p.Phe983Ser	p.F983S	ENST00000252575	NM_004386.2	983	tTc/tCc	0	not done		possiblydamaging	
DENND4C		inserm.fr	GRCh37	9	19357973	19357973	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T																					ENST00000602925.1:c.4828A>C	p.Lys1610Gln	p.K1610Q	ENST00000602925	NM_017925.5	1610	Aag/Cag	0	validated		benign	
TM6SF2		inserm.fr	GRCh37	19	19378835	19378835	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1741T																					ENST00000389363.4:c.671A>G	p.Tyr224Cys	p.Y224C	ENST00000389363	NM_001001524.2	224	tAt/tGt	0	not done		possiblydamaging	
RPS6		inserm.fr	GRCh37	9	19379607	19379607	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1205T																					ENST00000380394.4:c.16T>G	p.Ser6Ala	p.S6A	ENST00000380394	NM_001010.2	6	Tcc/Gcc	0	not done		benign	
HIRA		inserm.fr	GRCh37	22	19394726	19394726	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM759T																					ENST00000263208.5:c.283A>G	p.Met95Val	p.M95V	ENST00000263208	NM_003325.3	95	Atg/Gtg	0	validated		possiblydamaging	
LRTM2		inserm.fr	GRCh37	12	1940408	1940408	+	synonymous_variant	Silent	SNP	T	C	C			BCM723T																					ENST00000543818.1:c.375T>C	p.Asn125=	p.N125=	ENST00000543818	NM_001163926.1	125	aaT/aaC	0	validated		synonymous	
LRRC15		inserm.fr	GRCh37	3	194080760	194080760	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1041T									Valid												ENST00000439944.2:c.1031A>G	p.Asn344Ser	p.N344S	ENST00000439944	NM_001135057.2	344	aAc/aGc	0	validated		possiblydamaging	
SUGP1		inserm.fr	GRCh37	19	19416681	19416681	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1211T																					ENST00000247001.5:c.515A>G	p.Tyr172Cys	p.Y172C	ENST00000247001	NM_172231.3	172	tAt/tGt	0	not done		probablydamaging	
ACAP2		inserm.fr	GRCh37	3	195028018	195028018	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC703T																					ENST00000326793.6:c.944T>G	p.Leu315Arg	p.L315R	ENST00000326793	NM_012287.5	315	cTt/cGt	0	validated		probablydamaging	
GDE1		inserm.fr	GRCh37	16	19514800	19514800	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1534T																					ENST00000353258.3:c.988C>G	p.His330Asp	p.H330D	ENST00000353258	NM_016641.3	330	Cac/Gac	0	validated		probablydamaging	
MUC20		inserm.fr	GRCh37	3	195346046	195346046	+	non_coding_transcript_exon_variant	RNA	SNP	G	C	C			CHC1753T																					ENST00000457750.1:n.622G>C		*208*	ENST00000457750				0	not done		synonymous	
MUC4		inserm.fr	GRCh37	3	195505830	195505830	+	synonymous_variant	Silent	SNP	G	C	C			BCM643T																					ENST00000463781.3:c.12621C>G	p.Thr4207=	p.T4207=	ENST00000463781	NM_018406.6	4207	acC/acG	0	validated		synonymous	
MUC4		inserm.fr	GRCh37	3	195515727	195515727	+	synonymous_variant	Silent	SNP	G	C	C			CHC896T																					ENST00000463781.3:c.2724C>G	p.Ala908=	p.A908=	ENST00000463781	NM_018406.6	908	gcC/gcG	0	not done		synonymous	
MUC4		inserm.fr	GRCh37	3	195517613	195517613	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM567T																					ENST00000463781.3:c.838A>G	p.Thr280Ala	p.T280A	ENST00000463781	NM_018406.6	280	Aca/Gca	0	validated		possiblydamaging	
TNK2		inserm.fr	GRCh37	3	195597064	195597064	+	synonymous_variant	Silent	SNP	T	C	C			CHC313T																					ENST00000381916.2:c.1653A>G	p.Gly551=	p.G551=	ENST00000381916	NM_001010938.1	551	ggA/ggG	0	validated		synonymous	
AKR7A3		inserm.fr	GRCh37	1	19615030	19615030	+	synonymous_variant	Silent	SNP	A	C	C			CHC2034T																					ENST00000361640.4:c.174T>G	p.Leu58=	p.L58=	ENST00000361640	NM_012067.2	58	ctT/ctG	0	validated		synonymous	
WDR53		inserm.fr	GRCh37	3	196281288	196281288	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1756T																					ENST00000332629.5:c.871A>G	p.Lys291Glu	p.K291E	ENST00000332629	NM_182627.1	291	Aaa/Gaa	0	not done		possiblydamaging	
PDYN		inserm.fr	GRCh37	20	1963613	1963613	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1763T																					ENST00000217305.2:c.118A>G	p.Ile40Val	p.I40V	ENST00000217305	NM_024411.4	40	Atc/Gtc	0	not done		probablydamaging	
CFH		inserm.fr	GRCh37	1	196709797	196709797	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1148T																					ENST00000367429.4:c.2831A>C	p.His944Pro	p.H944P	ENST00000367429	NM_000186.3	944	cAc/cCc	0	not done		probablydamaging	
CFH		inserm.fr	GRCh37	1	196709815	196709815	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1148T																					ENST00000367429.4:c.2849A>C	p.Gln950Pro	p.Q950P	ENST00000367429	NM_000186.3	950	cAg/cCg	0	not done		probablydamaging	
DNAH7		inserm.fr	GRCh37	2	196718217	196718217	+	synonymous_variant	Silent	SNP	T	C	C			CHC1602T																					ENST00000312428.6:c.8631A>G	p.Glu2877=	p.E2877=	ENST00000312428	NM_018897.2	2877	gaA/gaG	0	not done		synonymous	
DNAH7		inserm.fr	GRCh37	2	196723464	196723464	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM483T									Valid												ENST00000312428.6:c.7801C>G	p.Gln2601Glu	p.Q2601E	ENST00000312428	NM_018897.2	2601	Caa/Gaa	0	validated		possiblydamaging	
DNAH7		inserm.fr	GRCh37	2	196726574	196726574	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1205T																					ENST00000312428.6:c.7603A>G	p.Lys2535Glu	p.K2535E	ENST00000312428	NM_018897.2	2535	Aaa/Gaa	0	not done		benign	
CAPZB		inserm.fr	GRCh37	1	19683153	19683153	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1715T																					ENST00000375142.1:c.564C>G	p.Asn188Lys	p.N188K	ENST00000375142	NM_001206540.1	188	aaC/aaG	0	not done		probablydamaging	
DLG1		inserm.fr	GRCh37	3	196865209	196865209	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000346964.2:c.866A>G	p.His289Arg	p.H289R	ENST00000346964	NM_004087.2	289	cAt/cGt	0	not done		probablydamaging	
DNAH7		inserm.fr	GRCh37	2	196877611	196877611	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM483T																					ENST00000312428.6:c.889A>G	p.Ile297Val	p.I297V	ENST00000312428	NM_018897.2	297	Atc/Gtc	0	validated		benign	
ASPM		inserm.fr	GRCh37	1	197071336	197071336	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1616T																					ENST00000367409.4:c.7045A>G	p.Arg2349Gly	p.R2349G	ENST00000367409	NM_018136.4	2349	Aga/Gga	0	not done		probablydamaging	
ASPM		inserm.fr	GRCh37	1	197073207	197073207	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC917T																					ENST00000367409.4:c.5174A>G	p.Tyr1725Cys	p.Y1725C	ENST00000367409	NM_018136.4	1725	tAt/tGt	0	validated		possiblydamaging	
ASPM		inserm.fr	GRCh37	1	197112453	197112453	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC314T									Valid												ENST00000367409.4:c.929A>G	p.Gln310Arg	p.Q310R	ENST00000367409	NM_018136.4	310	cAa/cGa	0	validated		possiblydamaging	
ZBTB41		inserm.fr	GRCh37	1	197160900	197160900	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1749T																					ENST00000367405.4:c.1250T>G	p.Phe417Cys	p.F417C	ENST00000367405	NM_194314.2	417	tTt/tGt	0	not done		probablydamaging	
GMIP		inserm.fr	GRCh37	19	19745647	19745647	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC879T																					ENST00000203556.4:c.1841A>G	p.Asn614Ser	p.N614S	ENST00000203556	NM_016573.2	614	aAc/aGc	0	not done		probablydamaging	
ATP13A1		inserm.fr	GRCh37	19	19758063	19758063	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC155T									Valid												ENST00000357324.6:c.2980A>G	p.Asn994Asp	p.N994D	ENST00000357324	NM_020410.2	994	Aat/Gat	0	validated		probablydamaging	
GTF3C3		inserm.fr	GRCh37	2	197643700	197643700	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2029T																					ENST00000263956.3:c.1310A>G	p.Tyr437Cys	p.Y437C	ENST00000263956	NM_012086.4	437	tAt/tGt	0	not done		probablydamaging	
GTF3C3		inserm.fr	GRCh37	2	197643730	197643730	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2029T																					ENST00000263956.3:c.1280T>G	p.Val427Gly	p.V427G	ENST00000263956	NM_012086.4	427	gTt/gGt	0	not done		probablydamaging	
PGAP1		inserm.fr	GRCh37	2	197744863	197744863	+	synonymous_variant	Silent	SNP	T	C	C			BCM545T																					ENST00000354764.4:c.1287A>G	p.Arg429=	p.R429=	ENST00000354764	NM_024989.3	429	agA/agG	0	validated		synonymous	
PGAP1		inserm.fr	GRCh37	2	197757959	197757959	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC205T																					ENST00000354764.4:c.938A>G	p.Asn313Ser	p.N313S	ENST00000354764	NM_024989.3	313	aAt/aGt	0	validated		benign	
ZNF14		inserm.fr	GRCh37	19	19823078	19823078	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1209T																					ENST00000344099.3:c.1012A>G	p.Lys338Glu	p.K338E	ENST00000344099	NM_021030.2	338	Aaa/Gaa	0	not done		probablydamaging	
SF3B1		inserm.fr	GRCh37	2	198257133	198257133	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC361TA									Valid												ENST00000335508.6:c.3809A>G	p.Asn1270Ser	p.N1270S	ENST00000335508	NM_012433.2	1270	aAc/aGc	0	validated		probablydamaging	
HSPD1		inserm.fr	GRCh37	2	198363489	198363489	+	synonymous_variant	Silent	SNP	T	C	C			CHC1207T																					ENST00000388968.3:c.84A>G	p.Lys28=	p.K28=	ENST00000388968	NM_002156.4	28	aaA/aaG	0	not done		synonymous	
MOB4		inserm.fr	GRCh37	2	198405141	198405141	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1211T																					ENST00000323303.4:c.334G>C	p.Ala112Pro	p.A112P	ENST00000323303	NM_015387.4	112	Gct/Cct	0	not done		probablydamaging	
GPRC5B		inserm.fr	GRCh37	16	19883315	19883315	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1603T																					ENST00000300571.2:c.853A>G	p.Ile285Val	p.I285V	ENST00000300571	NM_016235.1	285	Atc/Gtc	0	not done		benign	
PLCL1		inserm.fr	GRCh37	2	198950870	198950870	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC917T																					ENST00000428675.1:c.2629A>C	p.Asn877His	p.N877H	ENST00000428675	NM_006226.3	877	Aat/Cat	0	validated		benign	
PLCL1		inserm.fr	GRCh37	2	198950934	198950934	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC121T																					ENST00000428675.1:c.2693T>C	p.Ile898Thr	p.I898T	ENST00000428675	NM_006226.3	898	aTa/aCa	0	validated		benign	
EFHB		inserm.fr	GRCh37	3	19925971	19925971	+	synonymous_variant	Silent	SNP	T	C	C			CHC1624T																					ENST00000295824.9:c.2070A>G	p.Pro690=	p.P690=	ENST00000295824	NM_144715.3	690	ccA/ccG	0	validated		synonymous	
SATB2		inserm.fr	GRCh37	2	200137120	200137120	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1201T																					ENST00000417098.1:c.2016C>G	p.His672Gln	p.H672Q	ENST00000417098	NM_001172509.1	672	caC/caG	0	not done		probablydamaging	
SLC18A1		inserm.fr	GRCh37	8	20022470	20022470	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1566T																					ENST00000440926.1:c.925A>G	p.Ile309Val	p.I309V	ENST00000440926	NM_001135691.2	309	Atc/Gtc	0	not done		benign	
ZNF281		inserm.fr	GRCh37	1	200377314	200377314	+	stop_gained	Nonsense_Mutation	SNP	G	C	C			CHC1747T																					ENST00000294740.3:c.1520C>G	p.Ser507Ter	p.S507*	ENST00000294740	NM_001281293.1	507	tCa/tGa	0	not done		damaging	
DDX59		inserm.fr	GRCh37	1	200633195	200633195	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1746T																					ENST00000331314.6:c.824T>G	p.Leu275Arg	p.L275R	ENST00000331314	NM_001031725.4	275	cTc/cGc	0	not done		probablydamaging	
MAP7D2		inserm.fr	GRCh37	X	20069064	20069064	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC303T									Valid												ENST00000379643.5:c.596C>G	p.Ala199Gly	p.A199G	ENST00000379643	NM_001168465.1	199	gCt/gGt	0	validated		possiblydamaging	
C2orf69		inserm.fr	GRCh37	2	200776266	200776266	+	synonymous_variant	Silent	SNP	G	C	C			BCM671T																					ENST00000319974.5:c.105G>C	p.Pro35=	p.P35=	ENST00000319974	NM_153689.5	35	ccG/ccC	0	validated		synonymous	
C2orf69		inserm.fr	GRCh37	2	200790316	200790316	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC609T																					ENST00000319974.5:c.865T>C	p.Phe289Leu	p.F289L	ENST00000319974	NM_153689.5	289	Ttt/Ctt	0	validated		possiblydamaging	
IGFN1		inserm.fr	GRCh37	1	201168508	201168508	+	splice_donor_variant	Splice_Site	SNP	T	C	C			CHC909T																					ENST00000335211.4:c.412+2T>C		p.X138_splice	ENST00000335211	NM_001164586.1			0	not done		possiblydamaging	
IGFN1		inserm.fr	GRCh37	1	201175372	201175372	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2141T																					ENST00000335211.4:c.1351G>C	p.Ala451Pro	p.A451P	ENST00000335211	NM_001164586.1	451	Gct/Cct	0	not done			
ZNF682		inserm.fr	GRCh37	19	20117894	20117894	+	synonymous_variant	Silent	SNP	A	C	C			CHC432T																					ENST00000397165.2:c.417T>G	p.Thr139=	p.T139=	ENST00000397165	NM_033196.2	139	acT/acG	0	not done		synonymous	
KCTD18		inserm.fr	GRCh37	2	201371593	201371593	+	synonymous_variant	Silent	SNP	T	C	C			CHC794T																					ENST00000359878.3:c.147A>G	p.Lys49=	p.K49=	ENST00000359878	NM_152387.2	49	aaA/aaG	0	validated		synonymous	
SGOL2		inserm.fr	GRCh37	2	201437745	201437745	+	synonymous_variant	Silent	SNP	T	C	C			CHC1040T																					ENST00000357799.4:c.2676T>C	p.Asp892=	p.D892=	ENST00000357799	NM_152524.5	892	gaT/gaC	0	not done		synonymous	
AOX1		inserm.fr	GRCh37	2	201534366	201534366	+	synonymous_variant	Silent	SNP	A	C	C			CHC896T																					ENST00000374700.2:c.3867A>C	p.Ala1289=	p.A1289=	ENST00000374700	NM_001159.3	1289	gcA/gcC	0	not done		synonymous	
ORC2		inserm.fr	GRCh37	2	201807421	201807421	+	synonymous_variant	Silent	SNP	A	C	C			CHC327T																					ENST00000234296.2:c.408T>G	p.Pro136=	p.P136=	ENST00000234296	NM_006190.4	136	ccT/ccG	0	validated		synonymous	
RPS6KA3		inserm.fr	GRCh37	X	20181154	20181154	+	stop_gained	Nonsense_Mutation	SNP	A	C	C			CHC1053T									Valid												ENST00000379565.3:c.1769T>G	p.Leu590Ter	p.L590*	ENST00000379565	NM_004586.2	590	tTa/tGa	0	validated		damaging	
RPS6KA3		inserm.fr	GRCh37	X	20185723	20185723	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2216T																					ENST00000379565.3:c.1586A>G	p.Tyr529Cys	p.Y529C	ENST00000379565	NM_004586.2	529	tAt/tGt	0	not done		possiblydamaging	
CFLAR		inserm.fr	GRCh37	2	202013763	202013763	+	synonymous_variant	Silent	SNP	T	C	C			CHC303T																					ENST00000309955.3:c.699T>C	p.Ala233=	p.A233=	ENST00000309955	NM_003879.5	233	gcT/gcC	0	validated		synonymous	
C20orf26		inserm.fr	GRCh37	20	20209014	20209014	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2358T																					ENST00000245957.5:c.2054T>C	p.Val685Ala	p.V685A	ENST00000245957	NM_015585.3	685	gTa/gCa	0	validated		benign	
OTUD3		inserm.fr	GRCh37	1	20209135	20209135	+	synonymous_variant	Silent	SNP	T	C	C			CHC2099T																					ENST00000375120.3:c.129T>C	p.Ser43=	p.S43=	ENST00000375120	NM_015207.1	43	tcT/tcC	0	validated		synonymous	
OR4Q3		inserm.fr	GRCh37	14	20216254	20216254	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2200T																					ENST00000331723.1:c.668T>C	p.Leu223Pro	p.L223P	ENST00000331723	NM_172194.1	223	cTg/cCg	0	not done		probablydamaging	
RPS6KA3		inserm.fr	GRCh37	X	20222175	20222175	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC429T									Valid												ENST00000379565.3:c.290A>G	p.Tyr97Cys	p.Y97C	ENST00000379565	NM_004586.2	97	tAt/tGt	0	validated		probablydamaging	
LAPTM4A		inserm.fr	GRCh37	2	20232977	20232977	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC892T																					ENST00000175091.4:c.691T>G	p.Leu231Val	p.L231V	ENST00000175091	NM_014713.4	231	Tta/Gta	0	not done		benign	
OR4M1		inserm.fr	GRCh37	14	20248889	20248889	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1743T																					ENST00000315957.4:c.408G>C	p.Met136Ile	p.M136I	ENST00000315957	NM_001005500.1	136	atG/atC	0	not done		possiblydamaging	
TBL3		inserm.fr	GRCh37	16	2026824	2026824	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1746T																					ENST00000568546.1:c.1302G>C	p.Glu434Asp	p.E434D	ENST00000568546	NM_006453.2	434	gaG/gaC	0	not done		benign	
OR4N2		inserm.fr	GRCh37	14	20296068	20296068	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1736T																					ENST00000315947.1:c.461T>C	p.Val154Ala	p.V154A	ENST00000315947	NM_001004723.1	154	gTc/gCc	0	validated		benign	
GP2		inserm.fr	GRCh37	16	20330990	20330990	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1545T																					ENST00000381362.4:c.968C>G	p.Pro323Arg	p.P323R	ENST00000381362	NM_001007240.1	323	cCa/cGa	0	not done		probablydamaging	
GP2		inserm.fr	GRCh37	16	20331693	20331693	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1626T																					ENST00000381362.4:c.758T>G	p.Ile253Ser	p.I253S	ENST00000381362	NM_001007240.1	253	aTt/aGt	0	not done		benign	
UMOD		inserm.fr	GRCh37	16	20346822	20346822	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1085T																					ENST00000570689.1:c.1843A>G	p.Arg615Gly	p.R615G	ENST00000570689		615	Agg/Ggg	0	validated		benign	
MLLT3		inserm.fr	GRCh37	9	20413814	20413814	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2215T																					ENST00000380338.4:c.1030A>G	p.Thr344Ala	p.T344A	ENST00000380338	NM_004529.2	344	Aca/Gca	0	not done		benign	
ABI2		inserm.fr	GRCh37	2	204193288	204193288	+	synonymous_variant	Silent	SNP	G	C	C			CHC1594T																					ENST00000261017.5:c.51G>C	p.Arg17=	p.R17=	ENST00000261017	NM_005759.4	17	cgG/cgC	0	not done		synonymous	
PLEKHA6		inserm.fr	GRCh37	1	204236619	204236619	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC879T																					ENST00000272203.3:c.264C>G	p.Cys88Trp	p.C88W	ENST00000272203	NM_014935.4	88	tgC/tgG	0	not done		probablydamaging	
ITGB8		inserm.fr	GRCh37	7	20434548	20434548	+	synonymous_variant	Silent	SNP	T	C	C			CHC429T																					ENST00000222573.4:c.1086T>C	p.Ile362=	p.I362=	ENST00000222573	NM_002214.2	362	atT/atC	0	validated		synonymous	
ITGB8		inserm.fr	GRCh37	7	20438514	20438514	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC609T									Valid												ENST00000222573.4:c.1178A>C	p.Glu393Ala	p.E393A	ENST00000222573	NM_002214.2	393	gAa/gCa	0	validated		probablydamaging	
PIK3C2B		inserm.fr	GRCh37	1	204394850	204394850	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1602T																					ENST00000367187.3:c.4607A>G	p.Asn1536Ser	p.N1536S	ENST00000367187	NM_002646.3	1536	aAt/aGt	0	not done		benign	
PIK3C2B		inserm.fr	GRCh37	1	204401502	204401502	+	synonymous_variant	Silent	SNP	T	C	C			CHC433T																					ENST00000367187.3:c.3981A>G	p.Val1327=	p.V1327=	ENST00000367187	NM_002646.3	1327	gtA/gtG	0	validated		synonymous	
OR4K15		inserm.fr	GRCh37	14	20444136	20444136	+	synonymous_variant	Silent	SNP	T	C	C			CHC1137T																					ENST00000305051.5:c.459T>C	p.Pro153=	p.P153=	ENST00000305051	NM_001005486.1	153	ccT/ccC	0	not done		synonymous	
ZNF598		inserm.fr	GRCh37	16	2050173	2050173	+	synonymous_variant	Silent	SNP	T	C	C			CHC1192T																					ENST00000431526.1:c.1377A>G	p.Ala459=	p.A459=	ENST00000431526		459	gcA/gcG	0	validated		synonymous	
RBBP5		inserm.fr	GRCh37	1	205068922	205068922	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1601T																					ENST00000264515.6:c.925A>G	p.Ile309Val	p.I309V	ENST00000264515	NM_001193273.1	309	Atc/Gtc	0	not done		possiblydamaging	
PDE3A		inserm.fr	GRCh37	12	20523024	20523024	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1763T																					ENST00000359062.3:c.806A>C	p.Glu269Ala	p.E269A	ENST00000359062	NM_001244683.1	269	gAg/gCg	0	not done		possiblydamaging	
OR4L1		inserm.fr	GRCh37	14	20529142	20529142	+	stop_lost	Nonstop_Mutation	SNP	G	C	C			CHC1756T																					ENST00000315683.1:c.939G>C	p.Ter313TyrextTer?	p.*313Yext*?	ENST00000315683	NM_001004717.1	313	taG/taC	0	not done		damaging	
ACSM2B		inserm.fr	GRCh37	16	20557784	20557784	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1183T																					ENST00000329697.6:c.1111A>G	p.Met371Val	p.M371V	ENST00000329697	NM_001105069.1	371	Atg/Gtg	0	not done		benign	
ZMYM2		inserm.fr	GRCh37	13	20568007	20568007	+	synonymous_variant	Silent	SNP	T	C	C			BCM325T																					ENST00000382869.3:c.795T>C	p.Asn265=	p.N265=	ENST00000382869	NM_001190965.1	265	aaT/aaC	0	validated		synonymous	
RAB7L1		inserm.fr	GRCh37	1	205743996	205743996	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1180T																					ENST00000367139.3:c.89A>G	p.Asp30Gly	p.D30G	ENST00000367139	NM_003929.2	30	gAc/gGc	0	validated		benign	
PARD3B		inserm.fr	GRCh37	2	205829965	205829965	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1746T																					ENST00000358768.2:c.313G>C	p.Glu105Gln	p.E105Q	ENST00000358768		105	Gag/Cag	0	not done		probablydamaging	
OR4K17		inserm.fr	GRCh37	14	20586086	20586086	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1736T																					ENST00000315543.4:c.521T>C	p.Leu174Ser	p.L174S	ENST00000315543	NM_001004715.1	174	tTg/tCg	0	not done		probablydamaging	
ZMYM2		inserm.fr	GRCh37	13	20656271	20656271	+	splice_donor_variant	Splice_Site	SNP	G	C	C			CHC799T																					ENST00000382869.3:c.3568+1G>C		p.X1190_splice	ENST00000382869	NM_001190965.1			0	not done		possiblydamaging	
IKBKE		inserm.fr	GRCh37	1	206651505	206651505	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC1704T																					ENST00000367120.3:c.815G>C	p.Gly272Ala	p.G272A	ENST00000367120	NM_014002.3	272	gGg/gCg	0	not done		probablydamaging	
VWA5B1		inserm.fr	GRCh37	1	20669641	20669641	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1746T																					ENST00000375079.2:c.2381A>C	p.Gln794Pro	p.Q794P	ENST00000375079	NM_001039500.2	794	cAg/cCg	0	validated		benign	
INO80D		inserm.fr	GRCh37	2	206872060	206872060	+	synonymous_variant	Silent	SNP	T	C	C			CHC218T																					ENST00000403263.1:c.1866A>G	p.Ser622=	p.S622=	ENST00000403263	NM_017759.4	622	tcA/tcG	0	not done		synonymous	
NDUFS1		inserm.fr	GRCh37	2	206991486	206991486	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC912T																					ENST00000455934.2:c.2009A>G	p.Tyr670Cys	p.Y670C	ENST00000455934	NM_001199984.1	670	tAt/tGt	0	validated		benign	
IL19		inserm.fr	GRCh37	1	207010355	207010355	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1028T																					ENST00000340758.2:c.311T>C	p.Leu104Pro	p.L104P	ENST00000340758	NM_153758.2	104	cTg/cCg	0	not done		probablydamaging	
ZDBF2		inserm.fr	GRCh37	2	207173995	207173995	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T									Valid												ENST00000374423.3:c.4743A>C	p.Glu1581Asp	p.E1581D	ENST00000374423	NM_020923.1	1581	gaA/gaC	0	validated		possiblydamaging	
C1orf116		inserm.fr	GRCh37	1	207196552	207196552	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1183T																					ENST00000359470.5:c.557C>G	p.Pro186Arg	p.P186R	ENST00000359470	NM_023938.5	186	cCc/cGc	0	not done		probablydamaging	
ZNF74		inserm.fr	GRCh37	22	20761194	20761194	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1746T																					ENST00000400451.2:c.1871T>C	p.Leu624Pro	p.L624P	ENST00000400451	NM_003426.3	624	cTc/cCc	0	not done		probablydamaging	
CR1		inserm.fr	GRCh37	1	207753755	207753755	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2352T																					ENST00000367049.4:c.5107T>C	p.Cys1703Arg	p.C1703R	ENST00000367049	NM_000651.4	1703	Tgt/Cgt	0	not done		probablydamaging	
SMARCA2		inserm.fr	GRCh37	9	2077715	2077715	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1600T																					ENST00000382203.1:c.2123T>C	p.Ile708Thr	p.I708T	ENST00000382203		708	aTc/aCc	0	not done		benign	
KLF7		inserm.fr	GRCh37	2	207988806	207988806	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC051T									Valid												ENST00000309446.6:c.425C>G	p.Pro142Arg	p.P142R	ENST00000309446	NM_003709.3	142	cCt/cGt	0	validated		probablydamaging	
PDE3A		inserm.fr	GRCh37	12	20803387	20803387	+	synonymous_variant	Silent	SNP	T	C	C			CHC1616T																					ENST00000359062.3:c.2778T>C	p.Asp926=	p.D926=	ENST00000359062	NM_001244683.1	926	gaT/gaC	0	validated		synonymous	
CD34		inserm.fr	GRCh37	1	208073197	208073197	+	synonymous_variant	Silent	SNP	T	C	C			CHC801T																					ENST00000310833.7:c.231A>G	p.Gln77=	p.Q77=	ENST00000310833	NM_001025109.1	77	caA/caG	0	not done		synonymous	
SMARCA2		inserm.fr	GRCh37	9	2081983	2081983	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC798T																					ENST00000382203.1:c.2336T>C	p.Ile779Thr	p.I779T	ENST00000382203		779	aTt/aCt	0	validated		probablydamaging	
FOCAD		inserm.fr	GRCh37	9	20823116	20823116	+	splice_donor_variant	Splice_Site	SNP	T	C	C			CHC304T									Valid												ENST00000380249.1:c.1920+2T>C		p.X640_splice	ENST00000380249	NM_017794.3			0	validated		damaging	
SP8		inserm.fr	GRCh37	7	20824953	20824953	+	synonymous_variant	Silent	SNP	G	C	C			CHC197T																					ENST00000418710.2:c.483C>G	p.Gly161=	p.G161=	ENST00000418710	NM_182700.4	161	ggC/ggG	0	validated		synonymous	
CCNYL1		inserm.fr	GRCh37	2	208618316	208618316	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1566T																					ENST00000339882.5:c.821T>C	p.Ile274Thr	p.I274T	ENST00000339882	NM_001142300.1	274	aTt/aCt	0	not done		benign	
FZD5		inserm.fr	GRCh37	2	208632389	208632389	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1185T																					ENST00000295417.3:c.1075T>G	p.Tyr359Asp	p.Y359D	ENST00000295417	NM_003468.3	359	Tac/Gac	0	not done		probablydamaging	
DCUN1D3		inserm.fr	GRCh37	16	20871661	20871661	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1041T																					ENST00000324344.4:c.462A>G	p.Ile154Met	p.I154M	ENST00000324344	NM_173475.2	154	atA/atG	0	validated		benign	
POLN		inserm.fr	GRCh37	4	2087370	2087370	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC059T																					ENST00000511885.2:c.2167C>G	p.Arg723Gly	p.R723G	ENST00000511885		723	Cga/Gga	0	validated		benign	
SLCO1C1		inserm.fr	GRCh37	12	20876147	20876147	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1602T																					ENST00000381552.1:c.1145A>C	p.Gln382Pro	p.Q382P	ENST00000381552		382	cAg/cCg	0	not done		probablydamaging	
PLEKHM3		inserm.fr	GRCh37	2	208841755	208841755	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1747T																					ENST00000427836.2:c.1166T>G	p.Leu389Arg	p.L389R	ENST00000427836	NM_001080475.2	389	cTt/cGt	0	not done		probablydamaging	
C2orf80		inserm.fr	GRCh37	2	209036781	209036781	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2200T																					ENST00000341287.4:c.385C>G	p.Leu129Val	p.L129V	ENST00000341287	NM_001099334.2	129	Ctc/Gtc	0	not done		benign	
APEX1		inserm.fr	GRCh37	14	20925549	20925549	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM567T																					ENST00000216714.3:c.839G>C	p.Trp280Ser	p.W280S	ENST00000216714	NM_001244249.1	280	tGg/tCg	0	validated		probablydamaging	
PTH2R		inserm.fr	GRCh37	2	209358058	209358058	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1915T									Valid												ENST00000272847.2:c.1327T>C	p.Cys443Arg	p.C443R	ENST00000272847	NM_005048.3	443	Tgt/Cgt	0	validated		possiblydamaging	
PNP		inserm.fr	GRCh37	14	20940587	20940587	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCB231T																					ENST00000361505.5:c.132G>C	p.Gln44His	p.Q44H	ENST00000361505	NM_000270.3	44	caG/caC	0	validated		benign	
LAMB3		inserm.fr	GRCh37	1	209796454	209796454	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC912T																					ENST00000391911.1:c.2429A>G	p.Asn810Ser	p.N810S	ENST00000391911	NM_001017402.1	810	aAt/aGt	0	validated		probablydamaging	
IRF6		inserm.fr	GRCh37	1	209969782	209969782	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2029T																					ENST00000367021.3:c.290A>G	p.Tyr97Cys	p.Y97C	ENST00000367021	NM_006147.3	97	tAt/tGt	0	not done		probablydamaging	
DIEXF		inserm.fr	GRCh37	1	210003473	210003473	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1715T																					ENST00000491415.2:c.128A>C	p.Lys43Thr	p.K43T	ENST00000491415	NM_014388.6	43	aAg/aCg	0	not done		benign	
SERTAD4		inserm.fr	GRCh37	1	210411316	210411316	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1205T																					ENST00000367012.3:c.11T>C	p.Val4Ala	p.V4A	ENST00000367012	NM_019605.3	4	gTt/gCt	0	not done		benign	
UNC80		inserm.fr	GRCh37	2	210690775	210690775	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	C	C			CHC1739T																					ENST00000439458.1:c.2476A>C	p.Asn826His	p.N826H	ENST00000439458	NM_032504.1	826	Aat/Cat	0	not done		probablydamaging	
UNC80		inserm.fr	GRCh37	2	210742803	210742803	+	synonymous_variant	Silent	SNP	T	C	C			CHC1736T																					ENST00000439458.1:c.3972T>C	p.Phe1324=	p.F1324=	ENST00000439458	NM_032504.1	1324	ttT/ttC	0	not done		synonymous	
UNC80		inserm.fr	GRCh37	2	210818855	210818855	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1601T																					ENST00000439458.1:c.7120G>C	p.Val2374Leu	p.V2374L	ENST00000439458	NM_032504.1	2374	Gtt/Ctt	0	not done		possiblydamaging	
SMARCA2		inserm.fr	GRCh37	9	2110362	2110362	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2115T																					ENST00000382203.1:c.3401A>C	p.Asn1134Thr	p.N1134T	ENST00000382203		1134	aAt/aCt	0	not done		probablydamaging	
OR6S1		inserm.fr	GRCh37	14	21109517	21109517	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM689T																					ENST00000320704.3:c.334T>G	p.Ser112Ala	p.S112A	ENST00000320704	NM_001001968.1	112	Tcc/Gcc	0	validated		benign	
NPC1		inserm.fr	GRCh37	18	21113387	21113387	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC896T																					ENST00000269228.5:c.3686A>G	p.Tyr1229Cys	p.Y1229C	ENST00000269228	NM_000271.4	1229	tAt/tGt	0	not done		probablydamaging	
NPC1		inserm.fr	GRCh37	18	21116769	21116769	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T									Valid												ENST00000269228.5:c.3113T>G	p.Phe1038Cys	p.F1038C	ENST00000269228	NM_000271.4	1038	tTc/tGc	0	validated		probablydamaging	
LANCL1		inserm.fr	GRCh37	2	211305335	211305335	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1065T									Valid												ENST00000443314.1:c.677A>G	p.Tyr226Cys	p.Y226C	ENST00000443314		226	tAc/tGc	0	validated		probablydamaging	
AP3D1		inserm.fr	GRCh37	19	2114141	2114141	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000355272.6:c.2584A>G	p.Lys862Glu	p.K862E	ENST00000355272	NM_001261826.1	862	Aag/Gag	0	not done		benign	
SLC30A1		inserm.fr	GRCh37	1	211749031	211749031	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM711T																					ENST00000367001.4:c.1223A>G	p.His408Arg	p.H408R	ENST00000367001	NM_021194.2	408	cAt/cGt	0	validated		probablydamaging	
SLC30A1		inserm.fr	GRCh37	1	211751574	211751574	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC302T																					ENST00000367001.4:c.381C>G	p.Asn127Lys	p.N127K	ENST00000367001	NM_021194.2	127	aaC/aaG	0	validated		possiblydamaging	
MAP2K3		inserm.fr	GRCh37	17	21205522	21205522	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2127T																					ENST00000342679.4:c.467A>C	p.Asp156Ala	p.D156A	ENST00000342679	NM_145109.2	156	gAt/gCt	0	not done		benign	
EIF4G3		inserm.fr	GRCh37	1	21205989	21205989	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC327T									Valid												ENST00000602326.1:c.2299A>G	p.Ile767Val	p.I767V	ENST00000602326	NM_001198802.1	767	Atc/Gtc	0	validated		probablydamaging	
IFNA16		inserm.fr	GRCh37	9	21216799	21216799	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1725T																					ENST00000380216.1:c.506C>G	p.Ala169Gly	p.A169G	ENST00000380216	NM_002173.2	169	gCa/gGa	0	not done		benign	
APOB		inserm.fr	GRCh37	2	21225566	21225566	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2141T																					ENST00000233242.1:c.12728T>G	p.Phe4243Cys	p.F4243C	ENST00000233242	NM_000384.2	4243	tTt/tGt	0	not done		possiblydamaging	
APOB		inserm.fr	GRCh37	2	21230456	21230456	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1534T																					ENST00000233242.1:c.9284A>G	p.Gln3095Arg	p.Q3095R	ENST00000233242	NM_000384.2	3095	cAg/cGg	0	validated		probablydamaging	
APOB		inserm.fr	GRCh37	2	21230652	21230652	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC909T																					ENST00000233242.1:c.9088A>G	p.Ile3030Val	p.I3030V	ENST00000233242	NM_000384.2	3030	Att/Gtt	0	not done		benign	
APOB		inserm.fr	GRCh37	2	21231144	21231144	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC433T																					ENST00000233242.1:c.8596A>G	p.Thr2866Ala	p.T2866A	ENST00000233242	NM_000384.2	2866	Aca/Gca	0	validated		probablydamaging	
APOB		inserm.fr	GRCh37	2	21247926	21247926	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2127T																					ENST00000233242.1:c.2315A>G	p.Glu772Gly	p.E772G	ENST00000233242	NM_000384.2	772	gAa/gGa	0	not done		probablydamaging	
ERBB4		inserm.fr	GRCh37	2	212483903	212483903	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC898T																					ENST00000342788.4:c.2300A>G	p.Asp767Gly	p.D767G	ENST00000342788	NM_005235.2	767	gAt/gGt	0	not done		probablydamaging	
ZNF714		inserm.fr	GRCh37	19	21300127	21300127	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2052T																					ENST00000596143.1:c.657G>C	p.Lys219Asn	p.K219N	ENST00000596143	NM_182515.3	219	aaG/aaC	0	not done		probablydamaging	
XRN2		inserm.fr	GRCh37	20	21314220	21314220	+	synonymous_variant	Silent	SNP	A	C	C			CHC1053T																					ENST00000377191.3:c.897A>C	p.Gly299=	p.G299=	ENST00000377191	NM_012255.3	299	ggA/ggC	0	validated		synonymous	
TDRD15		inserm.fr	GRCh37	2	21361732	21361732	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1180T																					ENST00000405799.1:c.1393G>C	p.Gly465Arg	p.G465R	ENST00000405799		465	Ggc/Cgc	0	validated			
ZNF431		inserm.fr	GRCh37	19	21365592	21365592	+	synonymous_variant	Silent	SNP	T	C	C			CHC2141T																					ENST00000311048.7:c.486T>C	p.Asn162=	p.N162=	ENST00000311048	NM_133473.2	162	aaT/aaC	0	not done		synonymous	
ZNF431		inserm.fr	GRCh37	19	21366099	21366099	+	synonymous_variant	Silent	SNP	T	C	C			CHC121T																					ENST00000311048.7:c.993T>C	p.Leu331=	p.L331=	ENST00000311048	NM_133473.2	331	ctT/ctC	0	validated		synonymous	
PKD1		inserm.fr	GRCh37	16	2139956	2139956	+	synonymous_variant	Silent	SNP	T	C	C			CHC097T																					ENST00000262304.4:c.12684A>G	p.Arg4228=	p.R4228=	ENST00000262304	NM_001009944.2	4228	cgA/cgG	0	not done		synonymous	
SMYD2		inserm.fr	GRCh37	1	214488184	214488184	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB111T									Valid												ENST00000366957.5:c.317T>C	p.Val106Ala	p.V106A	ENST00000366957	NM_020197.2	106	gTa/gCa	0	validated		probablydamaging	
CENPF		inserm.fr	GRCh37	1	214815338	214815338	+	synonymous_variant	Silent	SNP	T	C	C			CHC1148T																					ENST00000366955.3:c.3657T>C	p.Asn1219=	p.N1219=	ENST00000366955	NM_016343.3	1219	aaT/aaC	0	not done		synonymous	
TMEM253		inserm.fr	GRCh37	14	21571374	21571374	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2099T																					ENST00000418511.2:c.611T>C	p.Val204Ala	p.V204A	ENST00000418511	NM_001146683.1	204	gTg/gCg	0	not done		benign	
KCTD3		inserm.fr	GRCh37	1	215775488	215775488	+	synonymous_variant	Silent	SNP	T	C	C			BCM423T																					ENST00000259154.4:c.1083T>C	p.His361=	p.H361=	ENST00000259154	NM_016121.3	361	caT/caC	0	validated		synonymous	
ABCA12		inserm.fr	GRCh37	2	215854073	215854073	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB301T																					ENST00000272895.7:c.3809A>G	p.Tyr1270Cys	p.Y1270C	ENST00000272895	NM_173076.2	1270	tAt/tGt	0	validated		probablydamaging	
ABCA12		inserm.fr	GRCh37	2	215910640	215910640	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC097T																					ENST00000272895.7:c.793C>G	p.Leu265Val	p.L265V	ENST00000272895	NM_173076.2	265	Ctt/Gtt	0	not done		benign	
USH2A		inserm.fr	GRCh37	1	215916541	215916541	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2127T																					ENST00000307340.3:c.11526A>G	p.Ile3842Met	p.I3842M	ENST00000307340	NM_206933.2	3842	atA/atG	0	not done		possiblydamaging	
USH2A		inserm.fr	GRCh37	1	216019205	216019205	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1739T																					ENST00000307340.3:c.9016A>G	p.Ile3006Val	p.I3006V	ENST00000307340	NM_206933.2	3006	Atc/Gtc	0	not done		possiblydamaging	
IGF2		inserm.fr	GRCh37	11	2161436	2161436	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1530T																					ENST00000434045.2:c.91A>G	p.Ile31Val	p.I31V	ENST00000434045	NM_001127598.1	31	Att/Gtt	0	not done		benign	
FN1		inserm.fr	GRCh37	2	216238083	216238083	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1600T																					ENST00000354785.4:c.6209A>G	p.Asn2070Ser	p.N2070S	ENST00000354785		2070	aAt/aGt	0	not done		benign	
USH2A		inserm.fr	GRCh37	1	216260082	216260082	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2103T																					ENST00000307340.3:c.4966A>G	p.Thr1656Ala	p.T1656A	ENST00000307340	NM_206933.2	1656	Acc/Gcc	0	not done		benign	
FN1		inserm.fr	GRCh37	2	216285439	216285439	+	synonymous_variant	Silent	SNP	T	C	C			CHC1209T																					ENST00000354785.4:c.1632A>G	p.Thr544=	p.T544=	ENST00000354785		544	acA/acG	0	not done		synonymous	
FN1		inserm.fr	GRCh37	2	216289019	216289019	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM371T																					ENST00000354785.4:c.1066A>G	p.Asn356Asp	p.N356D	ENST00000354785		356	Aat/Gat	0	validated		benign	
FN1		inserm.fr	GRCh37	2	216289939	216289939	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC799T																					ENST00000354785.4:c.914A>G	p.Tyr305Cys	p.Y305C	ENST00000354785		305	tAt/tGt	0	not done		probablydamaging	
DNAH11		inserm.fr	GRCh37	7	21631195	21631195	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC2098T																					ENST00000328843.6:c.2667G>C	p.Glu889Asp	p.E889D	ENST00000328843		889	gaG/gaC	0	not done		possiblydamaging	
DNAH11		inserm.fr	GRCh37	7	21640744	21640744	+	synonymous_variant	Silent	SNP	T	C	C			CHC1566T																					ENST00000328843.6:c.3372T>C	p.Ile1124=	p.I1124=	ENST00000328843		1124	atT/atC	0	not done		synonymous	
PECR		inserm.fr	GRCh37	2	216916176	216916176	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2029T																					ENST00000265322.7:c.599C>G	p.Ala200Gly	p.A200G	ENST00000265322	NM_018441.5	200	gCc/gGc	0	not done		probablydamaging	
GYS2		inserm.fr	GRCh37	12	21712587	21712587	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	C	C			CHC1626T																					ENST00000261195.2:c.1227A>G	p.Leu409=	p.L409=	ENST00000261195	NM_021957.3	409	ttA/ttG	0	not done		synonymous	
XPO7		inserm.fr	GRCh37	8	21847877	21847877	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1055T																					ENST00000252512.9:c.1891G>C	p.Val631Leu	p.V631L	ENST00000252512	NM_015024.4	631	Gtg/Ctg	0	validated		benign	
XPO7		inserm.fr	GRCh37	8	21856701	21856701	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2351T																					ENST00000252512.9:c.2528T>C	p.Leu843Pro	p.L843P	ENST00000252512	NM_015024.4	843	cTc/cCc	0	not done		probablydamaging	
TNS1		inserm.fr	GRCh37	2	218677154	218677154	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1053T									Valid												ENST00000171887.4:c.4657C>G	p.Leu1553Val	p.L1553V	ENST00000171887	NM_022648.4	1553	Ctg/Gtg	0	validated		probablydamaging	
CXCR2		inserm.fr	GRCh37	2	219000520	219000520	+	synonymous_variant	Silent	SNP	T	C	C			CHC1602T																					ENST00000318507.2:c.996T>C	p.His332=	p.H332=	ENST00000318507	NM_001557.3	332	caT/caC	0	not done		synonymous	
ZNF100		inserm.fr	GRCh37	19	21909804	21909804	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1569T																					ENST00000358296.6:c.1310C>G	p.Ala437Gly	p.A437G	ENST00000358296	NM_173531.3	437	gCt/gGt	0	not done		benign	
CTDSP1		inserm.fr	GRCh37	2	219263140	219263140	+	downstream_gene_variant	3'Flank	SNP	T	C	C			BCM567T																								ENST00000233202	NM_000578.3			0	validated			
ZNF142		inserm.fr	GRCh37	2	219508878	219508878	+	synonymous_variant	Silent	SNP	T	C	C			CHC2098T																					ENST00000411696.2:c.2361A>G	p.Pro787=	p.P787=	ENST00000411696		787	ccA/ccG	0	not done		synonymous	
MLLT10		inserm.fr	GRCh37	10	21959479	21959479	+	synonymous_variant	Silent	SNP	A	C	C			CHC1148T																					ENST00000307729.7:c.897A>C	p.Ala299=	p.A299=	ENST00000307729		299	gcA/gcC	0	not done		synonymous	
CYP27A1		inserm.fr	GRCh37	2	219677279	219677279	+	synonymous_variant	Silent	SNP	T	C	C			BCM399T																					ENST00000258415.4:c.651T>C	p.Ile217=	p.I217=	ENST00000258415	NM_000784.3	217	atT/atC	0	validated		synonymous	
METTL3		inserm.fr	GRCh37	14	21971483	21971483	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC798T																					ENST00000298717.4:c.556A>G	p.Thr186Ala	p.T186A	ENST00000298717	NM_019852.3	186	Aca/Gca	0	validated		benign	
SALL2		inserm.fr	GRCh37	14	21991271	21991271	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1616T																					ENST00000327430.3:c.2591A>G	p.Glu864Gly	p.E864G	ENST00000327430	NM_005407.1	864	gAa/gGa	0	not done		possiblydamaging	
ZNF43		inserm.fr	GRCh37	19	21991760	21991760	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1597T																					ENST00000354959.4:c.1079A>G	p.His360Arg	p.H360R	ENST00000354959	NM_003423.3	360	cAt/cGt	0	not done		probablydamaging	
SMS		inserm.fr	GRCh37	X	21995304	21995304	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1594T																					ENST00000404933.2:c.455T>C	p.Ile152Thr	p.I152T	ENST00000404933	NM_004595.4	152	aTt/aCt	0	not done		probablydamaging	
ABCC9		inserm.fr	GRCh37	12	21997418	21997418	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			BCM325T																					ENST00000261200.4:c.3314A>G	p.Gln1105Arg	p.Q1105R	ENST00000261200	NM_020297.2	1105	cAg/cGg	0	validated		probablydamaging	
GLB1L		inserm.fr	GRCh37	2	220102326	220102326	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1052T																					ENST00000295759.7:c.1597C>G	p.Gln533Glu	p.Q533E	ENST00000295759	NM_001286423.1	533	Caa/Gaa	0	validated		benign	
MLLT10		inserm.fr	GRCh37	10	22022437	22022437	+	synonymous_variant	Silent	SNP	T	C	C			CHC1183T																					ENST00000307729.7:c.2412T>C	p.Pro804=	p.P804=	ENST00000307729		804	ccT/ccC	0	not done		synonymous	
DNPEP		inserm.fr	GRCh37	2	220246082	220246082	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC902T																					ENST00000273075.4:c.1214C>G	p.Ala405Gly	p.A405G	ENST00000273075	NM_012100.2	405	gCc/gGc	0	not done		possiblydamaging	
SPEG		inserm.fr	GRCh37	2	220337700	220337700	+	synonymous_variant	Silent	SNP	G	C	C			CHC1712T																					ENST00000312358.7:c.4029G>C	p.Gly1343=	p.G1343=	ENST00000312358	NM_005876.4	1343	ggG/ggC	0	not done		synonymous	
GMPPA		inserm.fr	GRCh37	2	220370715	220370715	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1775T																					ENST00000358215.3:c.914T>C	p.Val305Ala	p.V305A	ENST00000358215	NM_205847.2	305	gTc/gCc	0	validated		probablydamaging	
ASIC4		inserm.fr	GRCh37	2	220399922	220399922	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM325T																					ENST00000347842.3:c.1429T>C	p.Cys477Arg	p.C477R	ENST00000347842	NM_182847.2	477	Tgc/Cgc	0	validated		probablydamaging	
SLC4A3		inserm.fr	GRCh37	2	220506381	220506381	+	synonymous_variant	Silent	SNP	G	C	C			CHC1592T																					ENST00000373762.3:c.3711G>C	p.Ser1237=	p.S1237=	ENST00000373762	NM_005070.3	1237	tcG/tcC	0	not done		synonymous	
MARK1		inserm.fr	GRCh37	1	220825366	220825366	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM683T																					ENST00000366917.4:c.1610G>C	p.Gly537Ala	p.G537A	ENST00000366917	NM_001286124.1	537	gGc/gCc	0	validated		benign	
HSPG2		inserm.fr	GRCh37	1	22161395	22161395	+	synonymous_variant	Silent	SNP	G	C	C			CHC1097T																					ENST00000374695.3:c.10497C>G	p.Thr3499=	p.T3499=	ENST00000374695	NM_005529.5	3499	acC/acG	0	validated		synonymous	
TRAF7		inserm.fr	GRCh37	16	2218103	2218103	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC451T																					ENST00000326181.6:c.165G>C	p.Gln55His	p.Q55H	ENST00000326181	NM_032271.2	55	caG/caC	0	validated		benign	
HSPG2		inserm.fr	GRCh37	1	22181200	22181200	+	synonymous_variant	Silent	SNP	T	C	C			CHC314T																					ENST00000374695.3:c.6192A>G	p.Glu2064=	p.E2064=	ENST00000374695	NM_005529.5	2064	gaA/gaG	0	validated		synonymous	
HSPG2		inserm.fr	GRCh37	1	22199122	22199122	+	synonymous_variant	Silent	SNP	T	C	C			CHC1763T																					ENST00000374695.3:c.4020A>G	p.Thr1340=	p.T1340=	ENST00000374695	NM_005529.5	1340	acA/acG	0	not done		synonymous	
DNAJC1		inserm.fr	GRCh37	10	22217453	22217453	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM275T									Valid												ENST00000376980.3:c.353A>G	p.Asp118Gly	p.D118G	ENST00000376980	NM_022365.3	118	gAt/gGt	0	validated		probablydamaging	
EPHA4		inserm.fr	GRCh37	2	222308239	222308239	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2362T																					ENST00000281821.2:c.1862T>G	p.Ile621Ser	p.I621S	ENST00000281821	NM_004438.3	621	aTt/aGt	0	validated		probablydamaging	
EPHA4		inserm.fr	GRCh37	2	222322665	222322665	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1732T																					ENST00000281821.2:c.1364A>G	p.Tyr455Cys	p.Y455C	ENST00000281821	NM_004438.3	455	tAc/tGc	0	not done		possiblydamaging	
RAPGEF5		inserm.fr	GRCh37	7	22259489	22259489	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2115T																					ENST00000344041.6:c.533A>G	p.Glu178Gly	p.E178G	ENST00000344041	NM_012294.3	178	gAa/gGa	0	not done		benign	
SLC39A14		inserm.fr	GRCh37	8	22273317	22273317	+	synonymous_variant	Silent	SNP	G	C	C			BCB151T																					ENST00000359741.5:c.786G>C	p.Ser262=	p.S262=	ENST00000359741	NM_015359.4	262	tcG/tcC	0	validated		synonymous	
CELA3B		inserm.fr	GRCh37	1	22304868	22304868	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1209T																					ENST00000337107.6:c.50G>C	p.Gly17Ala	p.G17A	ENST00000337107	NM_007352.2	17	gGc/gCc	0	not done		probablydamaging	
ZNF676		inserm.fr	GRCh37	19	22364093	22364093	+	synonymous_variant	Silent	SNP	T	C	C			CHC1091T																					ENST00000397121.2:c.426A>G	p.Lys142=	p.K142=	ENST00000397121	NM_001001411.2	142	aaA/aaG	0	validated		synonymous	
SLC17A6		inserm.fr	GRCh37	11	22399190	22399190	+	synonymous_variant	Silent	SNP	T	C	C			CHC1915T																					ENST00000263160.3:c.1653T>C	p.Asn551=	p.N551=	ENST00000263160	NM_020346.2	551	aaT/aaC	0	validated		synonymous	
GPR125		inserm.fr	GRCh37	4	22446653	22446653	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM689T																					ENST00000334304.5:c.649C>G	p.Pro217Ala	p.P217A	ENST00000334304	NM_145290.3	217	Cct/Gct	0	validated		probablydamaging	
WDR26		inserm.fr	GRCh37	1	224588766	224588766	+	synonymous_variant	Silent	SNP	T	C	C			CHC1152T																					ENST00000414423.2:c.1305A>G	p.Gly435=	p.G435=	ENST00000414423	NM_001115113.2	435	ggA/ggG	0	not done		synonymous	
WDFY1		inserm.fr	GRCh37	2	224782715	224782715	+	synonymous_variant	Silent	SNP	T	C	C			CHC909T																					ENST00000233055.4:c.150A>G	p.Val50=	p.V50=	ENST00000233055	NM_020830.3	50	gtA/gtG	0	not done		synonymous	
LOC100132247		inserm.fr	GRCh37	16	22546136	22546136	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC303T																					ENST00000424340.1:c.1832T>C	p.Leu611Pro	p.L611P	ENST00000424340	NM_001135865.1	611	cTg/cCg	0	validated			
LBR		inserm.fr	GRCh37	1	225603029	225603029	+	synonymous_variant	Silent	SNP	T	C	C			CHC2358T																					ENST00000338179.2:c.843A>G	p.Val281=	p.V281=	ENST00000338179	NM_194442.2	281	gtA/gtG	0	validated		synonymous	
ENAH		inserm.fr	GRCh37	1	225754991	225754991	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC433T																					ENST00000366844.3:c.131A>G	p.Asn44Ser	p.N44S	ENST00000366844	NM_001008493.1	44	aAc/aGc	0	validated		probablydamaging	
EPHX1		inserm.fr	GRCh37	1	226032852	226032852	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1040T																					ENST00000366837.4:c.1172A>C	p.Lys391Thr	p.K391T	ENST00000366837	NM_000120.3	391	aAg/aCg	0	not done		benign	
BMI1		inserm.fr	GRCh37	10	22617995	22617995	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2127T																					ENST00000376663.3:c.589G>C	p.Glu197Gln	p.E197Q	ENST00000376663	NM_005180.8	197	Gag/Cag	0	validated		benign	
CDC42BPA		inserm.fr	GRCh37	1	227316928	227316928	+	synonymous_variant	Silent	SNP	T	C	C			CHC1629T																					ENST00000366769.3:c.1395A>G	p.Ser465=	p.S465=	ENST00000366769	NM_003607.3	465	tcA/tcG	0	not done		synonymous	
C19orf35		inserm.fr	GRCh37	19	2276006	2276006	+	synonymous_variant	Silent	SNP	G	C	C			CHC218T																					ENST00000342063.3:c.1095C>G	p.Pro365=	p.P365=	ENST00000342063	NM_198532.2	365	ccC/ccG	0	not done		synonymous	
IRS1		inserm.fr	GRCh37	2	227662966	227662966	+	synonymous_variant	Silent	SNP	G	C	C			CHC314T																					ENST00000305123.5:c.489C>G	p.Val163=	p.V163=	ENST00000305123	NM_005544.2	163	gtC/gtG	0	validated		synonymous	
COL4A4		inserm.fr	GRCh37	2	227912258	227912258	+	synonymous_variant	Silent	SNP	T	C	C			CHC314T																					ENST00000396625.3:c.3222A>G	p.Lys1074=	p.K1074=	ENST00000396625	NM_000092.4	1074	aaA/aaG	0	validated		synonymous	
ZNF521		inserm.fr	GRCh37	18	22807485	22807485	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM371T																					ENST00000361524.3:c.397C>G	p.Leu133Val	p.L133V	ENST00000361524	NM_015461.2	133	Cta/Gta	0	validated		probablydamaging	
C1orf35		inserm.fr	GRCh37	1	228290698	228290698	+	synonymous_variant	Silent	SNP	G	C	C			CHC736T																					ENST00000272139.4:c.147C>G	p.Thr49=	p.T49=	ENST00000272139	NM_024319.2	49	acC/acG	0	validated		synonymous	
GAS2		inserm.fr	GRCh37	11	22833534	22833534	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM723T																					ENST00000454584.2:c.914G>C	p.Ser305Thr	p.S305T	ENST00000454584	NM_001143830.1	305	aGt/aCt	0	validated		benign	
GJC2		inserm.fr	GRCh37	1	228346425	228346425	+	synonymous_variant	Silent	SNP	G	C	C			CHC1568T																					ENST00000366714.2:c.966G>C	p.Ala322=	p.A322=	ENST00000366714	NM_020435.3	322	gcG/gcC	0	validated		synonymous	
ETNK1		inserm.fr	GRCh37	12	22837491	22837491	+	splice_donor_variant	Splice_Site	SNP	G	C	C			BCB111T									Valid												ENST00000266517.4:c.1286+1G>C		p.X429_splice	ENST00000266517	NM_018638.4			0	validated		damaging	
NCAM2		inserm.fr	GRCh37	21	22841052	22841052	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCB307T									Valid												ENST00000400546.1:c.1844A>C	p.Lys615Thr	p.K615T	ENST00000400546	NM_004540.3	615	aAa/aCa	0	validated		probablydamaging	
OBSCN		inserm.fr	GRCh37	1	228461882	228461882	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM791T																					ENST00000570156.2:c.6545T>C	p.Val2182Ala	p.V2182A	ENST00000570156	NM_001271223.2	2182	gTg/gCg	0	validated		possiblydamaging	
OBSCN		inserm.fr	GRCh37	1	228470775	228470775	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1201T																					ENST00000570156.2:c.9814G>C	p.Asp3272His	p.D3272H	ENST00000570156	NM_001271223.2	3272	Gac/Cac	0	not done		probablydamaging	
C2orf83		inserm.fr	GRCh37	2	228477745	228477745	+	intron_variant	Intron	SNP	T	C	C			CHC902T																					ENST00000264387.4:c.191-1373A>G		*64*	ENST00000264387	NM_020161.3			0	not done			
NCAM2		inserm.fr	GRCh37	21	22849705	22849705	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1616T																					ENST00000400546.1:c.1990G>C	p.Val664Leu	p.V664L	ENST00000400546	NM_004540.3	664	Gtt/Ctt	0	not done		probablydamaging	
NCAM2		inserm.fr	GRCh37	21	22881300	22881300	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC301T									Valid												ENST00000400546.1:c.2206A>C	p.Thr736Pro	p.T736P	ENST00000400546	NM_004540.3	736	Act/Cct	0	validated		probablydamaging	
ZNF521		inserm.fr	GRCh37	18	22902108	22902108	+	synonymous_variant	Silent	SNP	T	C	C			BCM265T																					ENST00000361524.3:c.84A>G	p.Ala28=	p.A28=	ENST00000361524	NM_015461.2	28	gcA/gcG	0	validated		synonymous	
HS3ST2		inserm.fr	GRCh37	16	22926390	22926390	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1061T									Valid												ENST00000261374.3:c.611T>C	p.Val204Ala	p.V204A	ENST00000261374	NM_006043.1	204	gTg/gCg	0	validated		probablydamaging	
ZNF99		inserm.fr	GRCh37	19	22941151	22941151	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC314T																					ENST00000596209.1:c.1560T>G	p.His520Gln	p.H520Q	ENST00000596209	NM_001080409.2	520	caT/caG	0	validated		benign	
ZNF99		inserm.fr	GRCh37	19	22941577	22941577	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1192T																					ENST00000596209.1:c.1134T>G	p.Phe378Leu	p.F378L	ENST00000596209	NM_001080409.2	378	ttT/ttG	0	not done		probablydamaging	
NUP133		inserm.fr	GRCh37	1	229599354	229599354	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC798T									Valid												ENST00000261396.3:c.2621A>G	p.Gln874Arg	p.Q874R	ENST00000261396	NM_018230.2	874	cAa/cGa	0	validated		probablydamaging	
TNFRSF10D		inserm.fr	GRCh37	8	23006066	23006066	+	splice_acceptor_variant	Splice_Site	SNP	T	C	C			CHC736T									Valid												ENST00000312584.3:c.257-2A>G		p.X86_splice	ENST00000312584	NM_003840.4			0	validated		damaging	
PGBD5		inserm.fr	GRCh37	1	230492881	230492881	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2141T																					ENST00000525115.1:c.311A>G	p.Tyr104Cys	p.Y104C	ENST00000525115		104	tAc/tGc	0	not done		benign	
ZFYVE28		inserm.fr	GRCh37	4	2306515	2306515	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM695T																					ENST00000290974.2:c.1552A>G	p.Ile518Val	p.I518V	ENST00000290974	NM_020972.2	518	Atc/Gtc	0	validated		probablydamaging	
TTC13		inserm.fr	GRCh37	1	231064692	231064692	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC736T									Valid												ENST00000366661.4:c.1448C>G	p.Pro483Arg	p.P483R	ENST00000366661	NM_024525.4	483	cCc/cGc	0	validated		probablydamaging	
TTC13		inserm.fr	GRCh37	1	231067045	231067045	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	C	C			CHC879T																					ENST00000366661.4:c.1299A>G	p.Arg433=	p.R433=	ENST00000366661	NM_024525.4	433	cgA/cgG	0	not done		possiblydamaging	
SP140		inserm.fr	GRCh37	2	231115727	231115727	+	synonymous_variant	Silent	SNP	T	C	C			CHC1603T																					ENST00000392045.3:c.1008T>C	p.Asp336=	p.D336=	ENST00000392045	NM_007237.4	336	gaT/gaC	0	not done		synonymous	
SH3YL1		inserm.fr	GRCh37	2	231129	231129	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1207T																					ENST00000356150.5:c.596A>G	p.Gln199Arg	p.Q199R	ENST00000356150	NM_015677.2	199	cAa/cGa	0	not done		benign	
HTR2B		inserm.fr	GRCh37	2	231988466	231988466	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC451T																					ENST00000258400.3:c.13T>G	p.Tyr5Asp	p.Y5D	ENST00000258400	NM_000867.4	5	Tac/Gac	0	validated		probablydamaging	
ARMC9		inserm.fr	GRCh37	2	232137710	232137710	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC891T																					ENST00000349938.4:c.1253T>C	p.Leu418Pro	p.L418P	ENST00000349938	NM_025139.4	418	cTg/cCg	0	not done		probablydamaging	
SIPA1L2		inserm.fr	GRCh37	1	232574888	232574888	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC909T																					ENST00000366630.1:c.3997A>G	p.Met1333Val	p.M1333V	ENST00000366630		1333	Atg/Gtg	0	not done		benign	
LRP10		inserm.fr	GRCh37	14	23345277	23345277	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1061T									Valid												ENST00000359591.4:c.1120T>C	p.Cys374Arg	p.C374R	ENST00000359591	NM_014045.3	374	Tgc/Cgc	0	validated		probablydamaging	
GZF1		inserm.fr	GRCh37	20	23345433	23345433	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM325T																					ENST00000338121.5:c.413T>C	p.Leu138Ser	p.L138S	ENST00000338121		138	tTg/tCg	0	validated		probablydamaging	
NAPB		inserm.fr	GRCh37	20	23360535	23360535	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM275T									Valid												ENST00000377026.4:c.704T>G	p.Phe235Cys	p.F235C	ENST00000377026	NM_022080.2	235	tTt/tGt	0	validated		probablydamaging	
GIGYF2		inserm.fr	GRCh37	2	233712244	233712244	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCB111T																					ENST00000409451.3:c.3710A>C	p.Gln1237Pro	p.Q1237P	ENST00000409451		1237	cAg/cCg	0	validated		benign	
RTDR1		inserm.fr	GRCh37	22	23406150	23406150	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM723T																					ENST00000216036.4:c.583C>G	p.Leu195Val	p.L195V	ENST00000216036	NM_014433.2	195	Ctg/Gtg	0	validated		probablydamaging	
USP40		inserm.fr	GRCh37	2	234407191	234407191	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	C	C			CHC1041T									Valid												ENST00000450966.1:c.2748+3A>G		p.X916_splice	ENST00000450966	NM_018218.2			0	validated		damaging	
TARBP1		inserm.fr	GRCh37	1	234561471	234561471	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1708T																					ENST00000040877.1:c.3392A>G	p.Asn1131Ser	p.N1131S	ENST00000040877	NM_005646.3	1131	aAt/aGt	0	validated		benign	
PRDM9		inserm.fr	GRCh37	5	23526648	23526648	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1629T																					ENST00000296682.3:c.1451T>C	p.Met484Thr	p.M484T	ENST00000296682	NM_020227.2	484	aTg/aCg	0	not done		probablydamaging	
PRDM9		inserm.fr	GRCh37	5	23527849	23527849	+	synonymous_variant	Silent	SNP	G	C	C			CHC1079T																					ENST00000296682.3:c.2652G>C	p.Gly884=	p.G884=	ENST00000296682	NM_020227.2	884	ggG/ggC	0	not done		synonymous	
ABCA3		inserm.fr	GRCh37	16	2358528	2358528	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2052T																					ENST00000301732.5:c.1208A>G	p.Gln403Arg	p.Q403R	ENST00000301732	NM_001089.2	403	cAg/cGg	0	not done		probablydamaging	
LYST		inserm.fr	GRCh37	1	235915339	235915339	+	synonymous_variant	Silent	SNP	T	C	C			CHC1700T																					ENST00000389794.3:c.7593A>G	p.Gly2531=	p.G2531=	ENST00000389794		2531	ggA/ggG	0	validated		synonymous	
LYST		inserm.fr	GRCh37	1	235922363	235922363	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM617T																					ENST00000389794.3:c.6790A>G	p.Ser2264Gly	p.S2264G	ENST00000389794		2264	Agt/Ggt	0	validated		possiblydamaging	
SS18		inserm.fr	GRCh37	18	23618612	23618612	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1592T																					ENST00000415083.2:c.787C>G	p.Gln263Glu	p.Q263E	ENST00000415083	NM_001007559.1	263	Cag/Gag	0	not done		probablydamaging	
MTR		inserm.fr	GRCh37	1	236992489	236992489	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC1148T																					ENST00000366577.5:c.996G>C	p.Arg332Ser	p.R332S	ENST00000366577	NM_000254.2	332	agG/agC	0	not done		possiblydamaging	
IQCA1		inserm.fr	GRCh37	2	237276929	237276929	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1741T																					ENST00000409907.3:c.1577T>G	p.Leu526Arg	p.L526R	ENST00000409907	NM_024726.4	526	cTg/cGg	0	not done		probablydamaging	
HOMEZ		inserm.fr	GRCh37	14	23745769	23745769	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T									Valid												ENST00000357460.5:c.668T>G	p.Leu223Arg	p.L223R	ENST00000357460	NM_020834.2	223	cTt/cGt	0	validated		benign	
RYR2		inserm.fr	GRCh37	1	237619915	237619915	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1756T																					ENST00000366574.2:c.1492G>C	p.Val498Leu	p.V498L	ENST00000366574	NM_001035.2	498	Gtg/Ctg	0	not done		benign	
RYR2		inserm.fr	GRCh37	1	237778080	237778080	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1743T																					ENST00000366574.2:c.5652G>C	p.Lys1884Asn	p.K1884N	ENST00000366574	NM_001035.2	1884	aaG/aaC	0	not done		benign	
ZP4		inserm.fr	GRCh37	1	238048827	238048827	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC304T									Valid												ENST00000366570.4:c.1024C>G	p.Leu342Val	p.L342V	ENST00000366570	NM_021186.3	342	Ctt/Gtt	0	validated		probablydamaging	
COL6A3		inserm.fr	GRCh37	2	238250706	238250706	+	splice_donor_variant	Splice_Site	SNP	A	C	C			CHC1746T																					ENST00000295550.4:c.7765+2T>G		p.X2589_splice	ENST00000295550	NM_004369.3			0	not done		damaging	
COL6A3		inserm.fr	GRCh37	2	238285449	238285449	+	synonymous_variant	Silent	SNP	G	C	C			CHC2141T																					ENST00000295550.4:c.3036C>G	p.Leu1012=	p.L1012=	ENST00000295550	NM_004369.3	1012	ctC/ctG	0	not done		synonymous	
COL6A3		inserm.fr	GRCh37	2	238285957	238285957	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB109T									Valid												ENST00000295550.4:c.2528A>G	p.Asp843Gly	p.D843G	ENST00000295550	NM_004369.3	843	gAc/gGc	0	validated		probablydamaging	
IL25		inserm.fr	GRCh37	14	23842536	23842536	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2099T																					ENST00000329715.2:c.209A>C	p.His70Pro	p.H70P	ENST00000329715	NM_022789.3	70	cAc/cCc	0	not done		benign	
E2F2		inserm.fr	GRCh37	1	23848524	23848524	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1763T																					ENST00000361729.2:c.383C>G	p.Thr128Ser	p.T128S	ENST00000361729	NM_004091.3	128	aCt/aGt	0	not done		probablydamaging	
TAF4B		inserm.fr	GRCh37	18	23866419	23866419	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1751T																					ENST00000269142.5:c.1546T>C	p.Ser516Pro	p.S516P	ENST00000269142	NM_005640.1	516	Tca/Cca	0	not done		benign	
LRRFIP1		inserm.fr	GRCh37	2	238672368	238672368	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1534T																					ENST00000392000.4:c.2012T>C	p.Leu671Pro	p.L671P	ENST00000392000	NM_001137552.1	671	cTa/cCa	0	validated		benign	
RBM44		inserm.fr	GRCh37	2	238725898	238725898	+	synonymous_variant	Silent	SNP	T	C	C			CHC1708T																					ENST00000316997.4:c.339T>C	p.Tyr113=	p.Y113=	ENST00000316997	NM_001080504.2	113	taT/taC	0	not done		synonymous	
MAGEL2		inserm.fr	GRCh37	15	23891021	23891021	+	synonymous_variant	Silent	SNP	G	C	C			CHC1725T																					ENST00000532292.1:c.60C>G	p.Pro20=	p.P20=	ENST00000532292	NM_019066.4	20	ccC/ccG	0	not done		synonymous	
ILKAP		inserm.fr	GRCh37	2	239092702	239092702	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC884T									Valid												ENST00000254654.3:c.585C>G	p.Phe195Leu	p.F195L	ENST00000254654	NM_030768.2	195	ttC/ttG	0	validated		probablydamaging	
SACS		inserm.fr	GRCh37	13	23911098	23911098	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM339T																					ENST00000382298.3:c.6917A>G	p.Asp2306Gly	p.D2306G	ENST00000382298	NM_014363.5	2306	gAt/gGt	0	validated		probablydamaging	
ZNF681		inserm.fr	GRCh37	19	23927811	23927811	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1211T																					ENST00000402377.3:c.541A>G	p.Ile181Val	p.I181V	ENST00000402377	NM_138286.2	181	Ata/Gta	0	not done		benign	
TMPRSS9		inserm.fr	GRCh37	19	2396536	2396536	+	splice_acceptor_variant	Splice_Site	SNP	G	C	C			CHC2048T																					ENST00000332578.3:c.143-1G>C		p.X48_splice	ENST00000332578	NM_182973.1			0	not done		damaging	
FMN2		inserm.fr	GRCh37	1	240341269	240341269	+	synonymous_variant	Silent	SNP	T	C	C			BCM265T																					ENST00000319653.9:c.1831T>C	p.Leu611=	p.L611=	ENST00000319653	NM_020066.4	611	Ttg/Ctg	0	validated		synonymous	
PRKCB		inserm.fr	GRCh37	16	24046847	24046847	+	synonymous_variant	Silent	SNP	A	C	C			CHC2200T																					ENST00000303531.7:c.508A>C	p.Arg170=	p.R170=	ENST00000303531	NM_002738.6	170	Agg/Cgg	0	not done		synonymous	
AC079612.1		inserm.fr	GRCh37	2	240500534	240500534	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB325T																					ENST00000358775.1:c.415T>C	p.Ser139Pro	p.S139P	ENST00000358775		139	Tca/Cca	0	validated			
OR6B2		inserm.fr	GRCh37	2	240969129	240969129	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC432T																					ENST00000402971.2:c.718A>G	p.Thr240Ala	p.T240A	ENST00000402971	NM_001005853.1	240	Acc/Gcc	0	not done		probablydamaging	
KCTD1		inserm.fr	GRCh37	18	24126697	24126697	+	intron_variant	Intron	SNP	T	C	C			CHC891T																					ENST00000408011.3:c.-16+2158A>G		*6*	ENST00000408011	NM_001136205.2			0	not done			
SMARCB1		inserm.fr	GRCh37	22	24135789	24135789	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1708T																					ENST00000263121.7:c.276A>C	p.Lys92Asn	p.K92N	ENST00000263121	NM_003073.3	92	aaA/aaC	0	not done		possiblydamaging	
HMGCL		inserm.fr	GRCh37	1	24143995	24143995	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1040T																					ENST00000374490.3:c.223A>G	p.Ser75Gly	p.S75G	ENST00000374490	NM_000191.2	75	Agc/Ggc	0	not done		probablydamaging	
NRSN1		inserm.fr	GRCh37	6	24146067	24146067	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC218T																					ENST00000378491.4:c.481A>C	p.Ile161Leu	p.I161L	ENST00000378491	NM_080723.4	161	Atc/Ctc	0	validated		benign	
RNPEPL1		inserm.fr	GRCh37	2	241516287	241516287	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1616T																					ENST00000270357.4:c.1071G>C	p.Lys357Asn	p.K357N	ENST00000270357	NM_018226.4	357	aaG/aaC	0	not done		benign	
GPR35		inserm.fr	GRCh37	2	241558400	241558400	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1211T																					ENST00000438013.2:c.41G>C	p.Gly14Ala	p.G14A	ENST00000438013		14	gGc/gCc	0	not done			
SMARCB1		inserm.fr	GRCh37	22	24175839	24175839	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC892T																					ENST00000263121.7:c.1067T>C	p.Leu356Pro	p.L356P	ENST00000263121	NM_003073.3	356	cTg/cCg	0	not done		probablydamaging	
WDR64		inserm.fr	GRCh37	1	241842806	241842806	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1592T																					ENST00000366552.2:c.503G>C	p.Gly168Ala	p.G168A	ENST00000366552	NM_144625.4	168	gGg/gCg	0	not done		probablydamaging	
WDR64		inserm.fr	GRCh37	1	241846839	241846839	+	synonymous_variant	Silent	SNP	T	C	C			CHC2113T																					ENST00000366552.2:c.645T>C	p.Cys215=	p.C215=	ENST00000366552	NM_144625.4	215	tgT/tgC	0	not done		synonymous	
THRB		inserm.fr	GRCh37	3	24188270	24188270	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC798T									Valid												ENST00000396671.2:c.428A>G	p.Tyr143Cys	p.Y143C	ENST00000396671	NM_001128176.2	143	tAt/tGt	0	validated		probablydamaging	
THRB		inserm.fr	GRCh37	3	24188277	24188277	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCB301T																					ENST00000396671.2:c.421C>G	p.Pro141Ala	p.P141A	ENST00000396671	NM_001128176.2	141	Cca/Gca	0	validated		probablydamaging	
SNED1		inserm.fr	GRCh37	2	242027816	242027816	+	stop_lost,splice_region_variant	Nonstop_Mutation	SNP	A	C	C			BCM711T																					ENST00000310397.8:c.4242A>C	p.Ter1414TyrextTer16	p.*1414Yext*16	ENST00000310397	NM_001080437.1	1414	taA/taC	0	validated		damaging	
HDLBP		inserm.fr	GRCh37	2	242174635	242174635	+	synonymous_variant	Silent	SNP	A	C	C			BCB167T																					ENST00000391975.1:c.3045T>G	p.Ser1015=	p.S1015=	ENST00000391975	NM_203346.3	1015	tcT/tcG	0	validated		synonymous	
ZFX		inserm.fr	GRCh37	X	24229375	24229375	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC051T									Valid												ENST00000379177.1:c.2300T>C	p.Ile767Thr	p.I767T	ENST00000379177	NM_003410.3	767	aTt/aCt	0	validated		probablydamaging	
TNFRSF19		inserm.fr	GRCh37	13	24234562	24234562	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC433T									Valid												ENST00000382258.4:c.669A>C	p.Arg223Ser	p.R223S	ENST00000382258	NM_018647.3	223	agA/agC	0	validated		possiblydamaging	
TSSC4		inserm.fr	GRCh37	11	2424038	2424038	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC736T																					ENST00000333256.6:c.175G>C	p.Asp59His	p.D59H	ENST00000333256		59	Gat/Cat	0	validated		probablydamaging	
PLCH2		inserm.fr	GRCh37	1	2428059	2428059	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1741T																					ENST00000449969.1:c.1768A>C	p.Lys590Gln	p.K590Q	ENST00000449969		590	Aag/Cag	0	not done		probablydamaging	
LOC285095		inserm.fr	GRCh37	2	242839338	242839338	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC902T																					ENST00000452112.1:c.172A>G	p.Lys58Glu	p.K58E	ENST00000452112		58	Aag/Gag	0	not done		damaging	
PLCH2		inserm.fr	GRCh37	1	2436341	2436341	+	3_prime_UTR_variant	3'UTR	SNP	G	C	C			BCB307T									Valid												ENST00000449969.1:c.*1275G>C		*425*	ENST00000449969				0	validated		probablydamaging	
ITSN2		inserm.fr	GRCh37	2	24432872	24432872	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1741T																					ENST00000355123.4:c.4288C>G	p.Leu1430Val	p.L1430V	ENST00000355123	NM_006277.2	1430	Ctg/Gtg	0	not done		probablydamaging	
GPLD1		inserm.fr	GRCh37	6	24454425	24454425	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1040T																					ENST00000230036.1:c.1153A>G	p.Met385Val	p.M385V	ENST00000230036	NM_001503.3	385	Atg/Gtg	0	not done		probablydamaging	
ADSS		inserm.fr	GRCh37	1	244586202	244586202	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC432T																					ENST00000366535.3:c.598A>G	p.Asn200Asp	p.N200D	ENST00000366535	NM_001126.3	200	Aac/Gac	0	not done		benign	
ITSN2		inserm.fr	GRCh37	2	24469168	24469168	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1035T																					ENST00000355123.4:c.3407A>G	p.Tyr1136Cys	p.Y1136C	ENST00000355123	NM_006277.2	1136	tAt/tGt	0	validated		probablydamaging	
ITSN2		inserm.fr	GRCh37	2	24533166	24533166	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1041T									Valid												ENST00000355123.4:c.640T>G	p.Leu214Val	p.L214V	ENST00000355123	NM_006277.2	214	Tta/Gta	0	validated		probablydamaging	
DHX15		inserm.fr	GRCh37	4	24534594	24534594	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC889T																					ENST00000336812.4:c.1993T>G	p.Ser665Ala	p.S665A	ENST00000336812	NM_001358.2	665	Tct/Gct	0	not done		benign	
CDH10		inserm.fr	GRCh37	5	24537636	24537636	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC609T									Valid												ENST00000264463.4:c.379C>G	p.Leu127Val	p.L127V	ENST00000264463	NM_006727.3	127	Cta/Gta	0	validated		probablydamaging	
RBBP6		inserm.fr	GRCh37	16	24551954	24551954	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2098T																					ENST00000319715.4:c.7T>C	p.Cys3Arg	p.C3R	ENST00000319715	NM_006910.4	3	Tgt/Cgt	0	not done		probablydamaging	
KIF26B		inserm.fr	GRCh37	1	245849660	245849660	+	synonymous_variant	Silent	SNP	T	C	C			CHC051T																					ENST00000407071.2:c.3375T>C	p.Arg1125=	p.R1125=	ENST00000407071	NM_018012.3	1125	cgT/cgC	0	validated		synonymous	
SMYD3		inserm.fr	GRCh37	1	245927356	245927356	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1052T																					ENST00000388985.4:c.1172A>G	p.Lys391Arg	p.K391R	ENST00000388985		391	aAg/aGg	0	validated		benign	
PSME2		inserm.fr	GRCh37	14	24612837	24612837	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2103T																					ENST00000216802.5:c.596A>G	p.Tyr199Cys	p.Y199C	ENST00000216802	NM_002818.2	199	tAt/tGt	0	not done		possiblydamaging	
TM9SF1		inserm.fr	GRCh37	14	24659770	24659770	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC121T																					ENST00000261789.4:c.1243C>G	p.Leu415Val	p.L415V	ENST00000261789	NM_006405.5	415	Ctt/Gtt	0	validated		benign	
TFB2M		inserm.fr	GRCh37	1	246727694	246727694	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC313T																					ENST00000366514.4:c.356A>G	p.Lys119Arg	p.K119R	ENST00000366514	NM_022366.2	119	aAa/aGa	0	validated		benign	
SPECC1L		inserm.fr	GRCh37	22	24718090	24718090	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM339T																					ENST00000314328.9:c.1142G>C	p.Arg381Pro	p.R381P	ENST00000314328	NM_015330.4	381	cGg/cCg	0	validated		probablydamaging	
TGM1		inserm.fr	GRCh37	14	24727840	24727840	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC793T									Valid												ENST00000206765.6:c.1199A>G	p.Asn400Ser	p.N400S	ENST00000206765	NM_000359.2	400	aAc/aGc	0	validated		probablydamaging	
TGM1		inserm.fr	GRCh37	14	24728338	24728338	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2029T																					ENST00000206765.6:c.1102A>G	p.Thr368Ala	p.T368A	ENST00000206765	NM_000359.2	368	Acg/Gcg	0	not done		possiblydamaging	
ZNF124		inserm.fr	GRCh37	1	247319996	247319996	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1207T																					ENST00000340684.6:c.742A>G	p.Arg248Gly	p.R248G	ENST00000340684	NM_003431.2	248	Agg/Ggg	0	not done		probablydamaging	
RABGGTA		inserm.fr	GRCh37	14	24739309	24739309	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1616T																					ENST00000399409.3:c.277C>G	p.Leu93Val	p.L93V	ENST00000399409	NM_004581.5	93	Ctg/Gtg	0	not done		probablydamaging	
DHRS1		inserm.fr	GRCh37	14	24760814	24760814	+	synonymous_variant	Silent	SNP	T	C	C			CHC2099T																					ENST00000288111.7:c.672A>G	p.Ser224=	p.S224=	ENST00000288111	NM_001136050.2	224	tcA/tcG	0	not done		synonymous	
OR2W5		inserm.fr	GRCh37	1	247654509	247654509	+	non_coding_transcript_exon_variant	RNA	SNP	T	C	C			CHC1152T																					ENST00000530852.2:n.140T>C		*47*	ENST00000530852				0	not done		probablydamaging	
OR2C3		inserm.fr	GRCh37	1	247695754	247695754	+	synonymous_variant	Silent	SNP	T	C	C			CHC805T																					ENST00000366487.3:c.60A>G	p.Thr20=	p.T20=	ENST00000366487	NM_198074.4	20	acA/acG	0	not done		synonymous	
OR14A16		inserm.fr	GRCh37	1	247978150	247978150	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1028T																					ENST00000357627.1:c.882A>G	p.Ile294Met	p.I294M	ENST00000357627	NM_001001966.1	294	atA/atG	0	not done		benign	
OR14A16		inserm.fr	GRCh37	1	247978810	247978810	+	synonymous_variant	Silent	SNP	G	C	C			CHC301T																					ENST00000357627.1:c.222C>G	p.Val74=	p.V74=	ENST00000357627	NM_001001966.1	74	gtC/gtG	0	validated		synonymous	
ADCY4		inserm.fr	GRCh37	14	24800284	24800284	+	synonymous_variant	Silent	SNP	G	C	C			CHC432T																					ENST00000310677.4:c.870C>G	p.Ser290=	p.S290=	ENST00000310677	NM_001198568.1	290	tcC/tcG	0	not done		synonymous	
TRIM58		inserm.fr	GRCh37	1	248020603	248020603	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1763T																					ENST00000366481.3:c.55T>C	p.Cys19Arg	p.C19R	ENST00000366481	NM_015431.3	19	Tgc/Cgc	0	not done		probablydamaging	
OR2T8		inserm.fr	GRCh37	1	248084447	248084447	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC896T																					ENST00000319968.4:c.128T>C	p.Met43Thr	p.M43T	ENST00000319968	NM_001005522.1	43	aTg/aCg	0	not done		probablydamaging	
OR2L5		inserm.fr	GRCh37	1	248185339	248185339	+	synonymous_variant	Silent	SNP	T	C	C			CHC1137T																					ENST00000355281.1:c.90T>C	p.Phe30=	p.F30=	ENST00000355281	NM_001258284.1	30	ttT/ttC	0	not done		synonymous	
OR2L5		inserm.fr	GRCh37	1	248185804	248185804	+	synonymous_variant	Silent	SNP	A	C	C			CHC2115T																					ENST00000355281.1:c.555A>C	p.Thr185=	p.T185=	ENST00000355281	NM_001258284.1	185	acA/acC	0	not done		synonymous	
NFATC4		inserm.fr	GRCh37	14	24839296	24839296	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2141T																					ENST00000413692.2:c.881G>C	p.Trp294Ser	p.W294S	ENST00000413692	NM_001198967.1	294	tGg/tCg	0	not done		probablydamaging	
OR2T12		inserm.fr	GRCh37	1	248458621	248458621	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1704T																					ENST00000317996.1:c.260A>G	p.Asn87Ser	p.N87S	ENST00000317996	NM_001004692.1	87	aAt/aGt	0	validated		benign	
ARHGAP21		inserm.fr	GRCh37	10	24874796	24874796	+	synonymous_variant	Silent	SNP	G	C	C			CHC1211T																					ENST00000396432.2:c.4422C>G	p.Ala1474=	p.A1474=	ENST00000396432	NM_020824.3	1474	gcC/gcG	0	not done		synonymous	
ZNF692		inserm.fr	GRCh37	1	249150093	249150093	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1044T																					ENST00000451251.1:c.727A>G	p.Lys243Glu	p.K243E	ENST00000451251	NM_001136036.2	243	Aaa/Gaa	0	not done		benign	
ARHGAP17		inserm.fr	GRCh37	16	24955158	24955158	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC327T																					ENST00000289968.6:c.1267A>G	p.Thr423Ala	p.T423A	ENST00000289968	NM_001006634.1	423	Aca/Gca	0	validated		probablydamaging	
PARP4		inserm.fr	GRCh37	13	25000660	25000660	+	synonymous_variant	Silent	SNP	T	C	C			CHC361TA																					ENST00000381989.3:c.4923A>G	p.Glu1641=	p.E1641=	ENST00000381989	NM_006437.3	1641	gaA/gaG	0	validated		synonymous	
PARP4		inserm.fr	GRCh37	13	25020832	25020832	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2211T																					ENST00000381989.3:c.3353A>G	p.Lys1118Arg	p.K1118R	ENST00000381989	NM_006437.3	1118	aAg/aGg	0	not done		probablydamaging	
CMAHP		inserm.fr	GRCh37	6	25081832	25081832	+	non_coding_transcript_exon_variant	RNA	SNP	T	C	C			CHC898T																					ENST00000377989.4:n.2230A>G		*744*	ENST00000377989				0	not done			
C12orf77		inserm.fr	GRCh37	12	25148983	25148983	+	synonymous_variant	Silent	SNP	T	C	C			CHC2099T																					ENST00000549828.1:c.165A>G	p.Thr55=	p.T55=	ENST00000549828	NM_001101339.1	55	acA/acG	0	not done		synonymous	
DOCK5		inserm.fr	GRCh37	8	25167978	25167978	+	synonymous_variant	Silent	SNP	T	C	C			CHC2034T																					ENST00000276440.7:c.1248T>C	p.Asn416=	p.N416=	ENST00000276440	NM_024940.6	416	aaT/aaC	0	not done		synonymous	
ZKSCAN2		inserm.fr	GRCh37	16	25251300	25251300	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM759T																					ENST00000328086.7:c.2741C>G	p.Pro914Arg	p.P914R	ENST00000328086	NM_001012981.4	914	cCc/cGc	0	validated		probablydamaging	
ATP12A		inserm.fr	GRCh37	13	25281233	25281233	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1754T																					ENST00000218548.6:c.2260G>C	p.Ala754Pro	p.A754P	ENST00000218548	NM_001185085.1	754	Gcc/Ccc	0	not done		probablydamaging	
MMEL1		inserm.fr	GRCh37	1	2541169	2541169	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2362T																					ENST00000378412.3:c.394A>G	p.Thr132Ala	p.T132A	ENST00000378412		132	Acc/Gcc	0	validated		probablydamaging	
RNF17		inserm.fr	GRCh37	13	25418008	25418008	+	synonymous_variant	Silent	SNP	T	C	C			CHC1741T																					ENST00000255324.5:c.2730T>C	p.Phe910=	p.F910=	ENST00000255324	NM_031277.2	910	ttT/ttC	0	not done		synonymous	
C1orf63		inserm.fr	GRCh37	1	25571709	25571709	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1624T																					ENST00000243189.7:c.604A>G	p.Arg202Gly	p.R202G	ENST00000243189	NM_020317.3	202	Aga/Gga	0	validated		probablydamaging	
SLC34A2		inserm.fr	GRCh37	4	25667767	25667767	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1052T																					ENST00000382051.3:c.397T>C	p.Phe133Leu	p.F133L	ENST00000382051	NM_006424.2	133	Ttc/Ctc	0	validated		benign	
TOP2B		inserm.fr	GRCh37	3	25673996	25673996	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000435706.2:c.1192A>G	p.Thr398Ala	p.T398A	ENST00000435706	NM_001068.3	398	Act/Gct	0	not done		probablydamaging	
SLC17A1		inserm.fr	GRCh37	6	25820089	25820089	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1736T																					ENST00000244527.4:c.262T>G	p.Ser88Ala	p.S88A	ENST00000244527	NM_005074.3	88	Tcc/Gcc	0	not done		benign	
OXSM		inserm.fr	GRCh37	3	25832515	25832515	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1717T																					ENST00000280701.3:c.4T>C	p.Ser2Pro	p.S2P	ENST00000280701	NM_017897.2	2	Tcc/Ccc	0	not done		benign	
GPR158		inserm.fr	GRCh37	10	25861750	25861750	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1738T																					ENST00000376351.3:c.1687A>C	p.Lys563Gln	p.K563Q	ENST00000376351	NM_020752.2	563	Aaa/Caa	0	not done		benign	
EBF2		inserm.fr	GRCh37	8	25890604	25890604	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM545T																					ENST00000520164.1:c.548A>G	p.Asp183Gly	p.D183G	ENST00000520164	NM_022659.3	183	gAc/gGc	0	validated		probablydamaging	
KSR1		inserm.fr	GRCh37	17	25931740	25931740	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1714T																					ENST00000398988.3:c.1255G>C	p.Ala419Pro	p.A419P	ENST00000398988	NM_014238.1	419	Gct/Cct	0	not done		benign	
ASXL2		inserm.fr	GRCh37	2	25965474	25965474	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1044T																					ENST00000435504.4:c.3732T>G	p.Ser1244Arg	p.S1244R	ENST00000435504		1244	agT/agG	0	not done		possiblydamaging	
HIST1H2BC		inserm.fr	GRCh37	6	26123925	26123925	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM723T																					ENST00000314332.5:c.208A>G	p.Ile70Val	p.I70V	ENST00000314332		70	Ata/Gta	0	validated		probablydamaging	
HS3ST4		inserm.fr	GRCh37	16	26147294	26147294	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1744T																					ENST00000331351.5:c.1096G>C	p.Gly366Arg	p.G366R	ENST00000331351	NM_006040.2	366	Ggg/Cgg	0	not done		probablydamaging	
ATP8A2		inserm.fr	GRCh37	13	26148976	26148976	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC609T									Valid												ENST00000381655.2:c.1693A>C	p.Asn565His	p.N565H	ENST00000381655	NM_016529.4	565	Aat/Cat	0	validated		probablydamaging	
HIST1H2BD		inserm.fr	GRCh37	6	26158640	26158640	+	synonymous_variant	Silent	SNP	G	C	C			CHC1704T																					ENST00000289316.2:c.243G>C	p.Leu81=	p.L81=	ENST00000289316	NM_138720.2	81	ctG/ctC	0	not done		synonymous	
HIST1H2AD		inserm.fr	GRCh37	6	26199138	26199138	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC302T																					ENST00000341023.1:c.334A>G	p.Ile112Val	p.I112V	ENST00000341023	NM_021065.3	112	Atc/Gtc	0	validated		probablydamaging	
NFE2L3		inserm.fr	GRCh37	7	26217690	26217690	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM339T																					ENST00000056233.3:c.698T>C	p.Ile233Thr	p.I233T	ENST00000056233	NM_004289.6	233	aTa/aCa	0	validated		benign	
HNRNPA2B1		inserm.fr	GRCh37	7	26235529	26235529	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			BCM759T																					ENST00000354667.4:c.695A>G	p.Asp232Gly	p.D232G	ENST00000354667	NM_031243.2	232	gAt/gGt	0	validated		damaging	
BHLHE41		inserm.fr	GRCh37	12	26275820	26275820	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM275T																					ENST00000242728.4:c.628A>G	p.Lys210Glu	p.K210E	ENST00000242728	NM_030762.2	210	Aag/Gag	0	validated		probablydamaging	
IDH3B		inserm.fr	GRCh37	20	2640183	2640183	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1201T																					ENST00000380843.4:c.1059C>G	p.Ile353Met	p.I353M	ENST00000380843	NM_006899.3	353	atC/atG	0	not done		probablydamaging	
GAREML		inserm.fr	GRCh37	2	26407706	26407706	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1708T																					ENST00000401533.2:c.989T>C	p.Leu330Pro	p.L330P	ENST00000401533	NM_001168241.1	330	cTg/cCg	0	not done			
IDH3B		inserm.fr	GRCh37	20	2640925	2640925	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM257T																					ENST00000380843.4:c.752A>G	p.Asp251Gly	p.D251G	ENST00000380843	NM_006899.3	251	gAc/gGc	0	validated		possiblydamaging	
MYO3A		inserm.fr	GRCh37	10	26442792	26442792	+	synonymous_variant	Silent	SNP	T	C	C			CHC1708T																					ENST00000265944.5:c.2649T>C	p.His883=	p.H883=	ENST00000265944	NM_017433.4	883	caT/caC	0	not done		synonymous	
ANO3		inserm.fr	GRCh37	11	26484695	26484695	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			BCM739T																					ENST00000256737.3:c.432G>C	p.Lys144Asn	p.K144N	ENST00000256737	NM_031418.2	144	aaG/aaC	0	validated		damaging	
ITPR2		inserm.fr	GRCh37	12	26551887	26551887	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC097T																					ENST00000381340.3:c.7618A>G	p.Ile2540Val	p.I2540V	ENST00000381340	NM_002223.2	2540	Atc/Gtc	0	not done		probablydamaging	
CCDC164		inserm.fr	GRCh37	2	26676290	26676290	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCB151T																					ENST00000288710.2:c.1792A>C	p.Lys598Gln	p.K598Q	ENST00000288710	NM_145038.2	598	Aag/Cag	0	validated		benign	
OTOF		inserm.fr	GRCh37	2	26684964	26684964	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1192T																					ENST00000272371.2:c.5278A>G	p.Ile1760Val	p.I1760V	ENST00000272371	NM_194248.2	1760	Atc/Gtc	0	not done		possiblydamaging	
SLC5A12		inserm.fr	GRCh37	11	26742995	26742995	+	synonymous_variant	Silent	SNP	T	C	C			CHC155T																					ENST00000396005.3:c.267A>G	p.Leu89=	p.L89=	ENST00000396005	NM_178498.3	89	ctA/ctG	0	validated		synonymous	
ITPR2		inserm.fr	GRCh37	12	26774192	26774192	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1775T																					ENST00000381340.3:c.3326A>G	p.Tyr1109Cys	p.Y1109C	ENST00000381340	NM_002223.2	1109	tAc/tGc	0	validated		probablydamaging	
SPAG5		inserm.fr	GRCh37	17	26905446	26905446	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC892T																					ENST00000321765.5:c.3299A>G	p.Asn1100Ser	p.N1100S	ENST00000321765	NM_006461.3	1100	aAc/aGc	0	not done		benign	
BLTP2		inserm.fr	GRCh37	17	26959230	26959230	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB307T									Valid												ENST00000528896.2:c.3833A>G	p.Tyr1278Cys	p.Y1278C	ENST00000528896	NM_014680.3	1278	tAt/tGt	0	validated		probablydamaging	
CDH9		inserm.fr	GRCh37	5	26988317	26988317	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC917T																					ENST00000231021.4:c.124A>G	p.Lys42Glu	p.K42E	ENST00000231021	NM_016279.3	42	Aaa/Gaa	0	validated		benign	
SLC35F6		inserm.fr	GRCh37	2	27001180	27001180	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM399T									Valid												ENST00000344420.5:c.917T>C	p.Leu306Pro	p.L306P	ENST00000344420	NM_017877.3	306	cTg/cCg	0	validated		possiblydamaging	
IFT74		inserm.fr	GRCh37	9	27056346	27056346	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC798T																					ENST00000443698.1:c.1512G>C	p.Glu504Asp	p.E504D	ENST00000443698	NM_001099222.1	504	gaG/gaC	0	validated		benign	
TM7SF3		inserm.fr	GRCh37	12	27135739	27135739	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1741T																					ENST00000343028.4:c.922A>G	p.Ile308Val	p.I308V	ENST00000343028	NM_016551.2	308	Att/Gtt	0	not done		benign	
HOXA3		inserm.fr	GRCh37	7	27147724	27147724	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM695T																					ENST00000396352.4:c.1142C>G	p.Ala381Gly	p.A381G	ENST00000396352	NM_030661.4	381	gCc/gGc	0	validated		benign	
HOXA3		inserm.fr	GRCh37	7	27150150	27150150	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1191T																					ENST00000396352.4:c.110C>G	p.Ala37Gly	p.A37G	ENST00000396352	NM_030661.4	37	gCc/gGc	0	not done		unknown	
ZDHHC18		inserm.fr	GRCh37	1	27179306	27179306	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1749T																					ENST00000374142.4:c.999A>C	p.Lys333Asn	p.K333N	ENST00000374142	NM_032283.2	333	aaA/aaC	0	not done		benign	
WASF3		inserm.fr	GRCh37	13	27239205	27239205	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCB151T																					ENST00000335327.5:c.174G>C	p.Glu58Asp	p.E58D	ENST00000335327	NM_006646.5	58	gaG/gaC	0	validated		probablydamaging	
NSMCE1		inserm.fr	GRCh37	16	27244374	27244374	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2103T																					ENST00000361439.4:c.431A>G	p.Lys144Arg	p.K144R	ENST00000361439	NM_145080.3	144	aAg/aGg	0	not done		benign	
POM121L2		inserm.fr	GRCh37	6	27278530	27278530	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB111T									Valid												ENST00000444565.1:c.1420A>G	p.Thr474Ala	p.T474A	ENST00000444565	NM_033482.3	474	Aca/Gca	0	validated		probablydamaging	
EVX1		inserm.fr	GRCh37	7	27285690	27285690	+	synonymous_variant	Silent	SNP	A	C	C			CHC1725T																					ENST00000496902.4:c.870A>C	p.Ala290=	p.A290=	ENST00000496902		290	gcA/gcC	0	validated		synonymous	
GPR12		inserm.fr	GRCh37	13	27333836	27333836	+	synonymous_variant	Silent	SNP	T	C	C			BCM265T																					ENST00000405846.3:c.129A>G	p.Val43=	p.V43=	ENST00000405846	NM_005288.3	43	gtA/gtG	0	validated		synonymous	
ZNF391		inserm.fr	GRCh37	6	27368987	27368987	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC799T																					ENST00000244576.4:c.838A>C	p.Ser280Arg	p.S280R	ENST00000244576	NM_001076781.1	280	Agt/Cgt	0	not done		benign	
ANKRD26		inserm.fr	GRCh37	10	27382347	27382347	+	synonymous_variant	Silent	SNP	G	C	C			CHC1053T																					ENST00000376087.4:c.462C>G	p.Val154=	p.V154=	ENST00000376087	NM_014915.2	154	gtC/gtG	0	validated		synonymous	
ANKRD26		inserm.fr	GRCh37	10	27389139	27389139	+	synonymous_variant	Silent	SNP	G	C	C			CHC1738T																					ENST00000376087.4:c.117C>G	p.Gly39=	p.G39=	ENST00000376087	NM_014915.2	39	ggC/ggG	0	not done		synonymous	
LGR4		inserm.fr	GRCh37	11	27393239	27393239	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1148T																					ENST00000379214.4:c.1502C>G	p.Ala501Gly	p.A501G	ENST00000379214	NM_018490.2	501	gCt/gGt	0	not done		benign	
MYO18A		inserm.fr	GRCh37	17	27424823	27424823	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1531T																					ENST00000527372.1:c.4085T>G	p.Val1362Gly	p.V1362G	ENST00000527372	NM_078471.3	1362	gTg/gGg	0	not done		possiblydamaging	
EIF2B4		inserm.fr	GRCh37	2	27590667	27590667	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2127T																					ENST00000451130.2:c.788C>G	p.Pro263Arg	p.P263R	ENST00000451130	NM_172195.3	263	cCg/cGg	0	not done		probablydamaging	
PPM1G		inserm.fr	GRCh37	2	27608712	27608712	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC917T																					ENST00000344034.4:c.311A>G	p.Lys104Arg	p.K104R	ENST00000344034	NM_177983.2	104	aAa/aGa	0	validated		benign	
NUFIP2		inserm.fr	GRCh37	17	27613156	27613156	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1053T									Valid												ENST00000225388.4:c.1856A>G	p.Tyr619Cys	p.Y619C	ENST00000225388	NM_020772.2	619	tAc/tGc	0	validated		probablydamaging	
NUFIP2		inserm.fr	GRCh37	17	27613736	27613736	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1603T																					ENST00000225388.4:c.1276A>G	p.Asn426Asp	p.N426D	ENST00000225388	NM_020772.2	426	Aat/Gat	0	not done		benign	
NRBP1		inserm.fr	GRCh37	2	27660144	27660144	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1774T																					ENST00000233557.3:c.820A>C	p.Ile274Leu	p.I274L	ENST00000233557		274	Att/Ctt	0	validated		benign	
IFT172		inserm.fr	GRCh37	2	27682293	27682293	+	synonymous_variant	Silent	SNP	T	C	C			BCM695T																					ENST00000260570.3:c.2739A>G	p.Lys913=	p.K913=	ENST00000260570	NM_015662.1	913	aaA/aaG	0	validated		synonymous	
EOMES		inserm.fr	GRCh37	3	27760085	27760085	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T									Valid												ENST00000295743.4:c.1372T>G	p.Tyr458Asp	p.Y458D	ENST00000295743	NM_005442.3	458	Tat/Gat	0	validated		probablydamaging	
EOMES		inserm.fr	GRCh37	3	27763427	27763427	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM229T																					ENST00000295743.4:c.359C>G	p.Ala120Gly	p.A120G	ENST00000295743	NM_005442.3	120	gCc/gGc	0	validated		benign	
DCAF8L2		inserm.fr	GRCh37	X	27766357	27766357	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2321T																					ENST00000451261.2:c.1345T>C	p.Phe449Leu	p.F449L	ENST00000451261	NM_001136533.1	449	Ttc/Ctc	0	validated		probablydamaging	
DCAF8L2		inserm.fr	GRCh37	X	27766800	27766800	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2141T																					ENST00000451261.2:c.1788G>C	p.Trp596Cys	p.W596C	ENST00000451261	NM_001136533.1	596	tgG/tgC	0	not done		probablydamaging	
C2orf16		inserm.fr	GRCh37	2	27801399	27801399	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM423T																					ENST00000408964.2:c.1960T>C	p.Cys654Arg	p.C654R	ENST00000408964	NM_032266.3	654	Tgt/Cgt	0	validated		benign	
C2orf16		inserm.fr	GRCh37	2	27805250	27805250	+	synonymous_variant	Silent	SNP	T	C	C			CHC1743T																					ENST00000408964.2:c.5811T>C	p.Leu1937=	p.L1937=	ENST00000408964	NM_032266.3	1937	ctT/ctC	0	not done		synonymous	
TAX1BP1		inserm.fr	GRCh37	7	27827106	27827106	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCB151T																					ENST00000396319.2:c.922G>C	p.Asp308His	p.D308H	ENST00000396319	NM_006024.6	308	Gat/Cat	0	validated		probablydamaging	
AHDC1		inserm.fr	GRCh37	1	27875244	27875244	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1209T																					ENST00000374011.2:c.3383A>G	p.Tyr1128Cys	p.Y1128C	ENST00000374011	NM_001029882.2	1128	tAc/tGc	0	not done		probablydamaging	
AHDC1		inserm.fr	GRCh37	1	27875446	27875446	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1738T																					ENST00000374011.2:c.3181A>G	p.Ser1061Gly	p.S1061G	ENST00000374011	NM_001029882.2	1061	Agc/Ggc	0	not done		benign	
AHDC1		inserm.fr	GRCh37	1	27875772	27875772	+	stop_gained	Nonsense_Mutation	SNP	G	C	C			CHC1044T																					ENST00000374011.2:c.2855C>G	p.Ser952Ter	p.S952*	ENST00000374011	NM_001029882.2	952	tCa/tGa	0	not done		damaging	
MKX		inserm.fr	GRCh37	10	27964238	27964238	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1736T																					ENST00000375790.5:c.979A>G	p.Thr327Ala	p.T327A	ENST00000375790		327	Act/Gct	0	not done		possiblydamaging	
RBKS		inserm.fr	GRCh37	2	28065985	28065985	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1207T																					ENST00000302188.3:c.463A>G	p.Ile155Val	p.I155V	ENST00000302188	NM_022128.1	155	Ata/Gta	0	not done		benign	
LNX2		inserm.fr	GRCh37	13	28136799	28136799	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1624T																					ENST00000316334.3:c.975C>G	p.His325Gln	p.H325Q	ENST00000316334	NM_153371.3	325	caC/caG	0	validated		benign	
SRRM2		inserm.fr	GRCh37	16	2815195	2815195	+	synonymous_variant	Silent	SNP	A	C	C			CHC1079T																					ENST00000301740.8:c.4666A>C	p.Arg1556=	p.R1556=	ENST00000301740	NM_016333.3	1556	Aga/Cga	0	not done		synonymous	
MN1		inserm.fr	GRCh37	22	28194912	28194912	+	synonymous_variant	Silent	SNP	T	C	C			BCM543T																					ENST00000302326.4:c.1620A>G	p.Gln540=	p.Q540=	ENST00000302326	NM_002430.2	540	caA/caG	0	validated		synonymous	
POLR1D		inserm.fr	GRCh37	13	28197265	28197265	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1186T																					ENST00000302979.3:c.280G>C	p.Glu94Gln	p.E94Q	ENST00000302979	NM_015972.3	94	Gag/Cag	0	not done		benign	
ZNF395		inserm.fr	GRCh37	8	28209252	28209252	+	synonymous_variant	Silent	SNP	T	C	C			CHC451T																					ENST00000344423.5:c.993A>G	p.Glu331=	p.E331=	ENST00000344423	NM_018660.2	331	gaA/gaG	0	not done		synonymous	
ADAMTS1		inserm.fr	GRCh37	21	28210838	28210838	+	synonymous_variant	Silent	SNP	T	C	C			BCB167T																					ENST00000284984.3:c.2124A>G	p.Lys708=	p.K708=	ENST00000284984	NM_006988.3	708	aaA/aaG	0	validated		synonymous	
ADAMTS1		inserm.fr	GRCh37	21	28217001	28217001	+	synonymous_variant	Silent	SNP	G	C	C			CHC2048T																					ENST00000284984.3:c.273C>G	p.Pro91=	p.P91=	ENST00000284984	NM_006988.3	91	ccC/ccG	0	not done		synonymous	
ARMC4		inserm.fr	GRCh37	10	28272784	28272784	+	synonymous_variant	Silent	SNP	T	C	C			CHC306T																					ENST00000305242.5:c.807A>G	p.Val269=	p.V269=	ENST00000305242	NM_018076.2	269	gtA/gtG	0	validated		synonymous	
OCA2		inserm.fr	GRCh37	15	28277217	28277217	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1708T																					ENST00000354638.3:c.320A>G	p.Glu107Gly	p.E107G	ENST00000354638	NM_000275.2	107	gAg/gGg	0	not done		benign	
ADAMTS5		inserm.fr	GRCh37	21	28296778	28296778	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1207T																					ENST00000284987.5:c.2387A>G	p.Glu796Gly	p.E796G	ENST00000284987	NM_007038.3	796	gAg/gGg	0	not done		probablydamaging	
ZSCAN31		inserm.fr	GRCh37	6	28297334	28297334	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1052T																					ENST00000414429.1:c.127A>G	p.Arg43Gly	p.R43G	ENST00000414429		43	Agg/Ggg	0	validated		probablydamaging	
ADAMTS5		inserm.fr	GRCh37	21	28302271	28302271	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1742T																					ENST00000284987.5:c.2159A>G	p.Lys720Arg	p.K720R	ENST00000284987	NM_007038.3	720	aAg/aGg	0	not done		possiblydamaging	
SERPINB1		inserm.fr	GRCh37	6	2834128	2834128	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1531T																					ENST00000380739.5:c.854A>G	p.Asn285Ser	p.N285S	ENST00000380739	NM_030666.3	285	aAc/aGc	0	not done		benign	
EFCAB5		inserm.fr	GRCh37	17	28378235	28378235	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC793T									Valid												ENST00000394835.3:c.1300T>C	p.Trp434Arg	p.W434R	ENST00000394835	NM_198529.3	434	Tgg/Cgg	0	validated		probablydamaging	
HERC2		inserm.fr	GRCh37	15	28414680	28414680	+	synonymous_variant	Silent	SNP	T	C	C			BCB109T																					ENST00000261609.7:c.10179A>G	p.Lys3393=	p.K3393=	ENST00000261609	NM_004667.5	3393	aaA/aaG	0	validated		synonymous	
SCAND3		inserm.fr	GRCh37	6	28542448	28542448	+	synonymous_variant	Silent	SNP	T	C	C			CHC1568T																					ENST00000452236.2:c.2034A>G	p.Pro678=	p.P678=	ENST00000452236	NM_052923.1	678	ccA/ccG	0	not done		synonymous	
DSC3		inserm.fr	GRCh37	18	28610997	28610997	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC912T									Valid												ENST00000360428.4:c.296C>G	p.Ser99Cys	p.S99C	ENST00000360428	NM_001941.3	99	tCt/tGt	0	validated		probablydamaging	
PHACTR4		inserm.fr	GRCh37	1	28819558	28819558	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2052T																					ENST00000373836.3:c.2078A>C	p.Lys693Thr	p.K693T	ENST00000373836	NM_023923.3	693	aAa/aCa	0	not done		probablydamaging	
BAMBI		inserm.fr	GRCh37	10	28970258	28970258	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1602T																					ENST00000375533.3:c.148G>C	p.Ala50Pro	p.A50P	ENST00000375533	NM_012342.2	50	Gcc/Ccc	0	not done		probablydamaging	
DSG4		inserm.fr	GRCh37	18	28993333	28993333	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1053T									Valid												ENST00000359747.4:c.2955G>C	p.Glu985Asp	p.E985D	ENST00000359747	NM_001134453.1	985	gaG/gaC	0	validated		probablydamaging	
DSG3		inserm.fr	GRCh37	18	29046515	29046515	+	synonymous_variant	Silent	SNP	A	C	C			CHC205T																					ENST00000257189.4:c.1434A>C	p.Thr478=	p.T478=	ENST00000257189	NM_001944.2	478	acA/acC	0	validated		synonymous	
OR2B3		inserm.fr	GRCh37	6	29054318	29054318	+	synonymous_variant	Silent	SNP	T	C	C			CHC1741T																					ENST00000377173.2:c.708A>G	p.Lys236=	p.K236=	ENST00000377173	NM_001005226.2	236	aaA/aaG	0	not done		synonymous	
SPDYA		inserm.fr	GRCh37	2	29063105	29063105	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1044T																					ENST00000334056.5:c.620T>C	p.Val207Ala	p.V207A	ENST00000334056	NM_182756.3	207	gTc/gCc	0	not done		benign	
ADD1		inserm.fr	GRCh37	4	2906823	2906823	+	synonymous_variant	Silent	SNP	T	C	C			CHC2215T																					ENST00000264758.7:c.1494T>C	p.Ile498=	p.I498=	ENST00000264758	NM_014189.3	498	atT/atC	0	not done		synonymous	
PPAP2C		inserm.fr	GRCh37	19	290990	290990	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM371T																					ENST00000327790.3:c.77C>G	p.Pro26Arg	p.P26R	ENST00000327790	NM_177543.2	26	cCg/cGg	0	validated		benign	
ATHL1		inserm.fr	GRCh37	11	291030	291030	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC798T																					ENST00000409548.2:c.823T>C	p.Tyr275His	p.Y275H	ENST00000409548	NM_025092.4	275	Tac/Cac	0	validated		benign	
OR2J2		inserm.fr	GRCh37	6	29142247	29142247	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC429T									Valid												ENST00000377167.2:c.835T>C	p.Tyr279His	p.Y279H	ENST00000377167	NM_030905.2	279	Tat/Cat	0	validated		probablydamaging	
OPRD1		inserm.fr	GRCh37	1	29189534	29189534	+	synonymous_variant	Silent	SNP	G	C	C			CHC434T																					ENST00000234961.2:c.858G>C	p.Leu286=	p.L286=	ENST00000234961	NM_000911.3	286	ctG/ctC	0	validated		synonymous	
XBP1		inserm.fr	GRCh37	22	29191402	29191402	+	3_prime_UTR_variant	3'UTR	SNP	T	C	C			CHC1741T																					ENST00000216037.6:c.*132A>G		*44*	ENST00000216037	NM_005080.3			0	not done		benign	
C2orf71		inserm.fr	GRCh37	2	29296810	29296810	+	synonymous_variant	Silent	SNP	T	C	C			BCM483T																					ENST00000331664.5:c.318A>G	p.Ser106=	p.S106=	ENST00000331664	NM_001029883.2	106	tcA/tcG	0	validated		synonymous	
OR5V1		inserm.fr	GRCh37	6	29323532	29323532	+	synonymous_variant	Silent	SNP	T	C	C			CHC1148T																					ENST00000377154.1:c.441A>G	p.Ser147=	p.S147=	ENST00000377154		147	tcA/tcG	0	not done		synonymous	
ZNRF3		inserm.fr	GRCh37	22	29446810	29446810	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM265T									Valid												ENST00000544604.2:c.2641T>C	p.Cys881Arg	p.C881R	ENST00000544604	NM_001206998.1	881	Tgc/Cgc	0	validated		possiblydamaging	
ZNRF3		inserm.fr	GRCh37	22	29446848	29446848	+	synonymous_variant	Silent	SNP	T	C	C			CHC1746T																					ENST00000544604.2:c.2679T>C	p.Pro893=	p.P893=	ENST00000544604	NM_001206998.1	893	ccT/ccC	0	not done		synonymous	
FAR2		inserm.fr	GRCh37	12	29450121	29450121	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC306T									Valid												ENST00000536681.3:c.533T>C	p.Ile178Thr	p.I178T	ENST00000536681	NM_001271783.1	178	aTt/aCt	0	validated		possiblydamaging	
TRAPPC8		inserm.fr	GRCh37	18	29451043	29451043	+	synonymous_variant	Silent	SNP	T	C	C			CHC197T																					ENST00000283351.4:c.2103A>G	p.Glu701=	p.E701=	ENST00000283351	NM_014939.3	701	gaA/gaG	0	validated		synonymous	
SRSF4		inserm.fr	GRCh37	1	29476634	29476634	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1040T																					ENST00000373795.4:c.649A>G	p.Lys217Glu	p.K217E	ENST00000373795	NM_005626.4	217	Aag/Gag	0	not done		probablydamaging	
ALK		inserm.fr	GRCh37	2	29497997	29497997	+	stop_gained	Nonsense_Mutation	SNP	G	C	C			CHC1746T																					ENST00000389048.3:c.2009C>G	p.Ser670Ter	p.S670*	ENST00000389048	NM_004304.4	670	tCa/tGa	0	not done		damaging	
ALK		inserm.fr	GRCh37	2	29498298	29498298	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM397T																					ENST00000389048.3:c.1882A>G	p.Ile628Val	p.I628V	ENST00000389048	NM_004304.4	628	Atc/Gtc	0	validated		benign	
TRAPPC8		inserm.fr	GRCh37	18	29522710	29522710	+	synonymous_variant	Silent	SNP	T	C	C			CHC326T																					ENST00000283351.4:c.18A>G	p.Gln6=	p.Q6=	ENST00000283351	NM_014939.3	6	caA/caG	0	validated		synonymous	
CHN2		inserm.fr	GRCh37	7	29552293	29552293	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM531T																					ENST00000222792.6:c.1349T>C	p.Met450Thr	p.M450T	ENST00000222792	NM_004067.2	450	aTg/aCg	0	validated		possiblydamaging	
NF1		inserm.fr	GRCh37	17	29562669	29562669	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC794T																					ENST00000358273.4:c.3749G>C	p.Arg1250Pro	p.R1250P	ENST00000358273	NM_001042492.2	1250	cGg/cCg	0	validated		probablydamaging	
NF1		inserm.fr	GRCh37	17	29588806	29588806	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC327T									Valid												ENST00000358273.4:c.4655A>C	p.Lys1552Thr	p.K1552T	ENST00000358273	NM_001042492.2	1552	aAa/aCa	0	validated		probablydamaging	
MTUS2		inserm.fr	GRCh37	13	29599279	29599279	+	synonymous_variant	Silent	SNP	T	C	C			CHC1182T																					ENST00000431530.3:c.474T>C	p.Ala158=	p.A158=	ENST00000431530	NM_001033602.2	158	gcT/gcC	0	not done		synonymous	
OMG		inserm.fr	GRCh37	17	29622556	29622556	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1205T																					ENST00000247271.4:c.794A>G	p.Asn265Ser	p.N265S	ENST00000247271	NM_002544.4	265	aAc/aGc	0	not done		benign	
RNF138		inserm.fr	GRCh37	18	29691810	29691810	+	synonymous_variant	Silent	SNP	T	C	C			CHC304T																					ENST00000261593.3:c.204T>C	p.Cys68=	p.C68=	ENST00000261593	NM_001191324.1	68	tgT/tgC	0	validated		synonymous	
GAS2L1		inserm.fr	GRCh37	22	29704533	29704533	+	synonymous_variant	Silent	SNP	T	C	C			CHC469T																					ENST00000341313.6:c.438T>C	p.Arg146=	p.R146=	ENST00000341313		146	cgT/cgC	0	validated		synonymous	
AP1B1		inserm.fr	GRCh37	22	29745302	29745302	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC320T									Valid												ENST00000357586.2:c.1342A>G	p.Met448Val	p.M448V	ENST00000357586	NM_001127.3	448	Atg/Gtg	0	validated		probablydamaging	
HLA-G		inserm.fr	GRCh37	6	29796563	29796563	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1611T																					ENST00000428701.1:c.587T>C	p.Leu196Pro	p.L196P	ENST00000428701	NM_002127.5	196	cTg/cCg	0	not done		probablydamaging	
SVIL		inserm.fr	GRCh37	10	29812604	29812604	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB109T																					ENST00000375398.2:c.2939A>G	p.Asn980Ser	p.N980S	ENST00000375398		980	aAc/aGc	0	validated		benign	
FLYWCH1		inserm.fr	GRCh37	16	2983719	2983719	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC2029T																					ENST00000416288.2:c.1249G>C	p.Gly417Arg	p.G417R	ENST00000416288	NM_032296.2	417	Ggc/Cgc	0	not done		probablydamaging	
GAREM		inserm.fr	GRCh37	18	29848062	29848062	+	synonymous_variant	Silent	SNP	T	C	C			CHC614T																					ENST00000269209.6:c.2403A>G	p.Pro801=	p.P801=	ENST00000269209		801	ccA/ccG	0	validated		synonymous	
GAREM		inserm.fr	GRCh37	18	29868021	29868021	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC218T																					ENST00000269209.6:c.539A>G	p.Lys180Arg	p.K180R	ENST00000269209		180	aAg/aGg	0	validated		benign	
RBMS3		inserm.fr	GRCh37	3	29922282	29922282	+	intron_variant	Intron	SNP	A	C	C			CHC1700T																					ENST00000383767.2:c.745-3371A>C		*249*	ENST00000383767				0	not done		synonymous	
VSTM2B		inserm.fr	GRCh37	19	30021094	30021094	+	synonymous_variant	Silent	SNP	G	C	C			CHC2213T																					ENST00000335523.7:c.666G>C	p.Ser222=	p.S222=	ENST00000335523	NM_001146339.1	222	tcG/tcC	0	validated		synonymous	
KCNA4		inserm.fr	GRCh37	11	30034064	30034064	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2358T																					ENST00000328224.6:c.162C>G	p.Ser54Arg	p.S54R	ENST00000328224	NM_002233.3	54	agC/agG	0	validated		benign	
TJP1		inserm.fr	GRCh37	15	30054595	30054595	+	synonymous_variant	Silent	SNP	T	C	C			CHC2098T																					ENST00000346128.6:c.636A>G	p.Ser212=	p.S212=	ENST00000346128	NM_175610.2	212	tcA/tcG	0	not done		synonymous	
GDPD3		inserm.fr	GRCh37	16	30124371	30124371	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM483T									Valid												ENST00000406256.3:c.154C>G	p.Leu52Val	p.L52V	ENST00000406256	NM_024307.2	52	Ctg/Gtg	0	validated		possiblydamaging	
ALK		inserm.fr	GRCh37	2	30143020	30143020	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2103T																					ENST00000389048.3:c.506A>G	p.Asn169Ser	p.N169S	ENST00000389048	NM_004304.4	169	aAt/aGt	0	not done		probablydamaging	
TRIM26		inserm.fr	GRCh37	6	30166683	30166683	+	synonymous_variant	Silent	SNP	T	C	C			CHC1742T																					ENST00000454678.2:c.198A>G	p.Arg66=	p.R66=	ENST00000454678	NM_003449.4	66	cgA/cgG	0	not done		synonymous	
NQO2		inserm.fr	GRCh37	6	3017182	3017182	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1749T																					ENST00000338130.2:c.482T>C	p.Val161Ala	p.V161A	ENST00000338130		161	gTc/gCc	0	not done		benign	
C19orf12		inserm.fr	GRCh37	19	30193686	30193686	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1742T																					ENST00000392278.2:c.392A>G	p.Gln131Arg	p.Q131R	ENST00000392278	NM_001031726.3	131	cAg/cGg	0	not done		benign	
MRPS26		inserm.fr	GRCh37	20	3028438	3028438	+	synonymous_variant	Silent	SNP	T	C	C			CHC1600T																					ENST00000380325.3:c.541T>C	p.Leu181=	p.L181=	ENST00000380325	NM_030811.3	181	Ttg/Ctg	0	not done		synonymous	
LTN1		inserm.fr	GRCh37	21	30338898	30338898	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM399T																					ENST00000389194.2:c.2053C>G	p.Gln685Glu	p.Q685E	ENST00000389194	NM_015565.2	685	Cag/Gag	0	validated		benign	
LTN1		inserm.fr	GRCh37	21	30342918	30342918	+	synonymous_variant	Silent	SNP	T	C	C			CHC1041T																					ENST00000389194.2:c.1269A>G	p.Pro423=	p.P423=	ENST00000389194	NM_015565.2	423	ccA/ccG	0	validated		synonymous	
CCT8		inserm.fr	GRCh37	21	30439250	30439250	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC197T																					ENST00000286788.4:c.524A>G	p.Asn175Ser	p.N175S	ENST00000286788	NM_006585.2	175	aAt/aGt	0	validated		benign	
DUSP15		inserm.fr	GRCh37	20	30449447	30449447	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1192T																					ENST00000339738.5:c.467A>G	p.Glu156Gly	p.E156G	ENST00000339738	NM_080611.3	156	gAg/gGg	0	validated		benign	
NOD1		inserm.fr	GRCh37	7	30472794	30472794	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			BCM325T																					ENST00000222823.4:c.2623C>G	p.Leu875Val	p.L875V	ENST00000222823	NM_006092.2	875	Ctg/Gtg	0	validated		possiblydamaging	
ITGAL		inserm.fr	GRCh37	16	30490491	30490491	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1530T																					ENST00000356798.6:c.407T>C	p.Leu136Pro	p.L136P	ENST00000356798	NM_002209.2	136	cTg/cCg	0	not done		possiblydamaging	
GGCT		inserm.fr	GRCh37	7	30537404	30537404	+	intron_variant	Intron	SNP	G	C	C			CHC432T																					ENST00000275428.4:c.424-553C>G		*142*	ENST00000275428	NM_024051.3			0	not done			
CCM2L		inserm.fr	GRCh37	20	30616891	30616891	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC327T																					ENST00000262659.8:c.1163T>C	p.Val388Ala	p.V388A	ENST00000262659	NM_080625.3	388	gTc/gCc	0	validated		benign	
AES		inserm.fr	GRCh37	19	3062771	3062771	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1756T																					ENST00000221561.8:c.155C>G	p.Pro52Arg	p.P52R	ENST00000221561	NM_198969.1	52	cCg/cGg	0	not done		benign	
MTPAP		inserm.fr	GRCh37	10	30630537	30630537	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM275T																					ENST00000263063.4:c.190T>G	p.Ser64Ala	p.S64A	ENST00000263063	NM_018109.3	64	Tct/Gct	0	validated		benign	
MDC1		inserm.fr	GRCh37	6	30675948	30675948	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1182T																					ENST00000376406.3:c.2408A>G	p.Gln803Arg	p.Q803R	ENST00000376406	NM_014641.2	803	cAa/cGa	0	not done		possiblydamaging	
TEX15		inserm.fr	GRCh37	8	30700102	30700102	+	synonymous_variant	Silent	SNP	T	C	C			CHC429T																					ENST00000256246.2:c.6432A>G	p.Lys2144=	p.K2144=	ENST00000256246	NM_031271.3	2144	aaA/aaG	0	validated		synonymous	
BACH1		inserm.fr	GRCh37	21	30714789	30714789	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM695T																					ENST00000399921.1:c.1846A>C	p.Asn616His	p.N616H	ENST00000399921	NM_206866.1	616	Aac/Cac	0	validated		possiblydamaging	
SRCAP		inserm.fr	GRCh37	16	30715397	30715397	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1191T																					ENST00000262518.4:c.67G>C	p.Gly23Arg	p.G23R	ENST00000262518	NM_006662.2	23	Ggc/Cgc	0	not done		benign	
PCDH7		inserm.fr	GRCh37	4	30724105	30724105	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1152T																					ENST00000543491.1:c.1061T>C	p.Val354Ala	p.V354A	ENST00000543491		354	gTg/gCg	0	validated		probablydamaging	
PCDH7		inserm.fr	GRCh37	4	30724344	30724344	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1192T																					ENST00000543491.1:c.1300G>C	p.Glu434Gln	p.E434Q	ENST00000543491		434	Gag/Cag	0	not done		probablydamaging	
PCDH7		inserm.fr	GRCh37	4	30724437	30724437	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC889T																					ENST00000543491.1:c.1393G>C	p.Asp465His	p.D465H	ENST00000543491		465	Gac/Cac	0	not done		probablydamaging	
SRCAP		inserm.fr	GRCh37	16	30735222	30735222	+	synonymous_variant	Silent	SNP	T	C	C			CHC1756T																					ENST00000262518.4:c.4477T>C	p.Leu1493=	p.L1493=	ENST00000262518	NM_006662.2	1493	Ttg/Ctg	0	not done		synonymous	
CCDC157		inserm.fr	GRCh37	22	30762093	30762093	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1744T																					ENST00000405659.1:c.104T>C	p.Val35Ala	p.V35A	ENST00000405659		35	gTg/gCg	0	not done		possiblydamaging	
RNF40		inserm.fr	GRCh37	16	30780014	30780014	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1700T																					ENST00000324685.6:c.2054A>C	p.Asp685Ala	p.D685A	ENST00000324685	NM_014771.3	685	gAt/gCt	0	not done		probablydamaging	
ZNF629		inserm.fr	GRCh37	16	30793350	30793350	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1731T																					ENST00000262525.4:c.2299C>G	p.Pro767Ala	p.P767A	ENST00000262525	NM_001080417.1	767	Ccc/Gcc	0	not done		probablydamaging	
ZNF629		inserm.fr	GRCh37	16	30793353	30793353	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1731T																					ENST00000262525.4:c.2296A>G	p.Arg766Gly	p.R766G	ENST00000262525	NM_001080417.1	766	Aga/Gga	0	not done		probablydamaging	
ZNF629		inserm.fr	GRCh37	16	30794629	30794629	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2128T																					ENST00000262525.4:c.1020C>G	p.His340Gln	p.H340Q	ENST00000262525	NM_001080417.1	340	caC/caG	0	not done		probablydamaging	
CCDC64B		inserm.fr	GRCh37	16	3079612	3079612	+	synonymous_variant	Silent	SNP	T	C	C			CHC1741T																					ENST00000572449.1:c.891A>G	p.Ser297=	p.S297=	ENST00000572449		297	tcA/tcG	0	not done		synonymous	
IPO8		inserm.fr	GRCh37	12	30814080	30814080	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1738T																					ENST00000256079.4:c.1876A>G	p.Lys626Glu	p.K626E	ENST00000256079	NM_006390.3	626	Aaa/Gaa	0	not done		benign	
IPO8		inserm.fr	GRCh37	12	30818156	30818156	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC909T																					ENST00000256079.4:c.1426A>G	p.Arg476Gly	p.R476G	ENST00000256079	NM_006390.3	476	Aga/Gga	0	not done		probablydamaging	
MYO1D		inserm.fr	GRCh37	17	30821906	30821906	+	synonymous_variant	Silent	SNP	G	C	C			BCM711T																					ENST00000318217.5:c.2892C>G	p.Val964=	p.V964=	ENST00000318217	NM_015194.1	964	gtC/gtG	0	validated		synonymous	
GADL1		inserm.fr	GRCh37	3	30842546	30842546	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1209T																					ENST00000282538.5:c.1085C>G	p.Ser362Cys	p.S362C	ENST00000282538	NM_207359.2	362	tCt/tGt	0	not done		possiblydamaging	
CCDC178		inserm.fr	GRCh37	18	30847217	30847217	+	synonymous_variant	Silent	SNP	T	C	C			CHC1192T																					ENST00000383096.3:c.1221A>G	p.Gln407=	p.Q407=	ENST00000383096		407	caA/caG	0	not done		synonymous	
DCDC5		inserm.fr	GRCh37	11	30902818	30902818	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	C	C			CHC205T									Valid												ENST00000444572.2:c.2214A>G	p.His739Arg	p.H739R	ENST00000444572		739	cAc/cGc	0	validated			
CCDC178		inserm.fr	GRCh37	18	30913330	30913330	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC703T									Valid												ENST00000383096.3:c.687A>G	p.Ile229Met	p.I229M	ENST00000383096		229	atA/atG	0	validated		probablydamaging	
FAM188B		inserm.fr	GRCh37	7	30931613	30931613	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1209T																					ENST00000265299.6:c.2267T>C	p.Ile756Thr	p.I756T	ENST00000265299	NM_032222.2	756	aTc/aCc	0	not done		probablydamaging	
SEC14L6		inserm.fr	GRCh37	22	30934851	30934851	+	synonymous_variant	Silent	SNP	G	C	C			CHC218T																					ENST00000402034.2:c.93C>G	p.Pro31=	p.P31=	ENST00000402034	NM_001193336.2	31	ccC/ccG	0	not done		synonymous	
ASXL1		inserm.fr	GRCh37	20	30954244	30954244	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC912T																					ENST00000375687.4:c.115G>C	p.Glu39Gln	p.E39Q	ENST00000375687	NM_015338.5	39	Gag/Cag	0	validated		possiblydamaging	
ZNF536		inserm.fr	GRCh37	19	31039315	31039315	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1720T																					ENST00000355537.3:c.2789T>C	p.Leu930Ser	p.L930S	ENST00000355537	NM_014717.1	930	tTg/tCg	0	not done		possiblydamaging	
GRIK1		inserm.fr	GRCh37	21	31062236	31062236	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1592T																					ENST00000399907.1:c.356T>G	p.Val119Gly	p.V119G	ENST00000399907	NM_000830.3	119	gTg/gGg	0	not done		probablydamaging	
C6orf15		inserm.fr	GRCh37	6	31079350	31079350	+	synonymous_variant	Silent	SNP	T	C	C			BCM371T																					ENST00000259870.3:c.786A>G	p.Gly262=	p.G262=	ENST00000259870	NM_014070.2	262	ggA/ggG	0	validated		synonymous	
ZNF646		inserm.fr	GRCh37	16	31092070	31092070	+	synonymous_variant	Silent	SNP	T	C	C			BCM723T																					ENST00000300850.5:c.4425T>C	p.Ser1475=	p.S1475=	ENST00000300850	NM_014699.3	1475	agT/agC	0	validated		synonymous	
ADCYAP1R1		inserm.fr	GRCh37	7	31125052	31125052	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC155T									Valid												ENST00000396211.2:c.664T>C	p.Ser222Pro	p.S222P	ENST00000396211		222	Tcc/Ccc	0	validated		probablydamaging	
MTMR10		inserm.fr	GRCh37	15	31251313	31251313	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2321T																					ENST00000435680.1:c.770A>G	p.Tyr257Cys	p.Y257C	ENST00000435680	NM_017762.2	257	tAc/tGc	0	validated		probablydamaging	
FASTKD5		inserm.fr	GRCh37	20	3127921	3127921	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC205T																					ENST00000380266.3:c.1796A>G	p.Lys599Arg	p.K599R	ENST00000380266	NM_021826.4	599	aAg/aGg	0	validated		benign	
MORC2		inserm.fr	GRCh37	22	31322847	31322847	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1626T																					ENST00000215862.4:c.2856C>G	p.Ile952Met	p.I952M	ENST00000215862	NM_014941.1	952	atC/atG	0	not done		probablydamaging	
ASXL3		inserm.fr	GRCh37	18	31323455	31323455	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1085T																					ENST00000269197.5:c.3643A>C	p.Lys1215Gln	p.K1215Q	ENST00000269197	NM_030632.1	1215	Aaa/Caa	0	validated		probablydamaging	
MORC2		inserm.fr	GRCh37	22	31337499	31337499	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1775T																					ENST00000215862.4:c.559A>G	p.Ile187Val	p.I187V	ENST00000215862	NM_014941.1	187	Att/Gtt	0	validated		probablydamaging	
TRPM1		inserm.fr	GRCh37	15	31362062	31362062	+	intron_variant	Intron	SNP	T	C	C			CHC1211T																					ENST00000542188.1:c.330+172A>G		*110*	ENST00000542188	NM_001252020.1			0	not done			
DNMT3B		inserm.fr	GRCh37	20	31390207	31390207	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM783T																					ENST00000328111.2:c.2162T>C	p.Ile721Thr	p.I721T	ENST00000328111	NM_006892.3	721	aTt/aCt	0	validated		probablydamaging	
ITGAD		inserm.fr	GRCh37	16	31413480	31413480	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM531T																					ENST00000389202.2:c.472T>C	p.Ser158Pro	p.S158P	ENST00000389202	NM_005353.2	158	Tct/Cct	0	validated		probablydamaging	
ITGAD		inserm.fr	GRCh37	16	31422671	31422671	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1775T																					ENST00000389202.2:c.1540G>C	p.Gly514Arg	p.G514R	ENST00000389202	NM_005353.2	514	Ggc/Cgc	0	validated		probablydamaging	
DNAJC24		inserm.fr	GRCh37	11	31447883	31447883	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2052T																					ENST00000465995.1:c.300A>C	p.Glu100Asp	p.E100D	ENST00000465995	NM_181706.4	100	gaA/gaC	0	not done		benign	
NOL4		inserm.fr	GRCh37	18	31463256	31463256	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2351T																					ENST00000261592.5:c.1675A>G	p.Arg559Gly	p.R559G	ENST00000261592	NM_001198546.1	559	Aga/Gga	0	not done		benign	
MEDAG		inserm.fr	GRCh37	13	31495869	31495869	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC798T																					ENST00000380482.4:c.673T>C	p.Ser225Pro	p.S225P	ENST00000380482	NM_032849.3	225	Tca/Cca	0	validated		possiblydamaging	
SLC5A2		inserm.fr	GRCh37	16	31500364	31500364	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM325T																					ENST00000330498.3:c.1444G>C	p.Glu482Gln	p.E482Q	ENST00000330498	NM_003041.3	482	Gag/Cag	0	validated		probablydamaging	
INPP5J		inserm.fr	GRCh37	22	31529921	31529921	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1717T																					ENST00000404390.3:c.1433T>C	p.Leu478Ser	p.L478S	ENST00000404390	NM_001002837.1	478	tTg/tCg	0	not done		benign	
TEX26		inserm.fr	GRCh37	13	31543022	31543022	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			BCM399T									Valid												ENST00000380473.3:c.647T>C	p.Val216Ala	p.V216A	ENST00000380473	NM_152325.1	216	gTg/gCg	0	validated		possiblydamaging	
PRRC2A		inserm.fr	GRCh37	6	31605097	31605097	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1602T																					ENST00000376033.2:c.6329A>C	p.Gln2110Pro	p.Q2110P	ENST00000376033	NM_004638.3	2110	cAg/cCg	0	not done		benign	
BPIFB2		inserm.fr	GRCh37	20	31606132	31606132	+	synonymous_variant	Silent	SNP	T	C	C			CHC912T																					ENST00000170150.3:c.645T>C	p.Ser215=	p.S215=	ENST00000170150	NM_025227.2	215	agT/agC	0	validated		synonymous	
PFKP		inserm.fr	GRCh37	10	3161039	3161039	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000381125.4:c.1508T>C	p.Leu503Pro	p.L503P	ENST00000381125	NM_002627.4	503	cTg/cCg	0	not done		probablydamaging	
BPIFB6		inserm.fr	GRCh37	20	31622696	31622696	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM567T																					ENST00000349552.1:c.430G>C	p.Val144Leu	p.V144L	ENST00000349552	NM_174897.2	144	Gtg/Ctg	0	validated		probablydamaging	
KLF13		inserm.fr	GRCh37	15	31664311	31664311	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1756T																					ENST00000307145.3:c.676A>C	p.Lys226Gln	p.K226Q	ENST00000307145	NM_015995.2	226	Aag/Cag	0	not done		benign	
BPIFB4		inserm.fr	GRCh37	20	31677361	31677361	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1148T																					ENST00000375483.3:c.1048G>C	p.Asp350His	p.D350H	ENST00000375483	NM_182519.2	350	Gat/Cat	0	not done		probablydamaging	
CCDC129		inserm.fr	GRCh37	7	31682670	31682670	+	synonymous_variant	Silent	SNP	T	C	C			CHC1148T																					ENST00000451887.2:c.1764T>C	p.Tyr588=	p.Y588=	ENST00000451887	NM_001257968.1	588	taT/taC	0	not done		synonymous	
PIK3IP1		inserm.fr	GRCh37	22	31687276	31687276	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM723T																					ENST00000215912.5:c.77T>G	p.Phe26Cys	p.F26C	ENST00000215912	NM_052880.4	26	tTc/tGc	0	validated		probablydamaging	
KRTAP26-1		inserm.fr	GRCh37	21	31692087	31692087	+	synonymous_variant	Silent	SNP	G	C	C			CHC1626T																					ENST00000360542.3:c.267C>G	p.Pro89=	p.P89=	ENST00000360542	NM_203405.1	89	ccC/ccG	0	not done		synonymous	
DDRGK1		inserm.fr	GRCh37	20	3171878	3171878	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC218T																					ENST00000354488.3:c.736A>G	p.Ile246Val	p.I246V	ENST00000354488	NM_023935.1	246	Ata/Gta	0	validated		probablydamaging	
PFKP		inserm.fr	GRCh37	10	3175470	3175470	+	synonymous_variant	Silent	SNP	T	C	C			CHC1592T																					ENST00000381125.4:c.1986T>C	p.Phe662=	p.F662=	ENST00000381125	NM_002627.4	662	ttT/ttC	0	not done		synonymous	
VARS		inserm.fr	GRCh37	6	31760881	31760881	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T									Valid												ENST00000375663.3:c.404T>G	p.Leu135Arg	p.L135R	ENST00000375663	NM_006295.2	135	cTg/cGg	0	validated		probablydamaging	
EIF4ENIF1		inserm.fr	GRCh37	22	31836830	31836830	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2206T																					ENST00000397525.1:c.2576T>G	p.Leu859Trp	p.L859W	ENST00000397525	NM_001164501.1	859	tTg/tGg	0	not done		probablydamaging	
CFB		inserm.fr	GRCh37	6	31917310	31917310	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1712T																					ENST00000425368.2:c.1384G>C	p.Glu462Gln	p.E462Q	ENST00000425368	NM_001710.5	462	Gaa/Caa	0	not done		probablydamaging	
SKIC2		inserm.fr	GRCh37	6	31936730	31936730	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1207T																					ENST00000375394.2:c.3263A>C	p.Glu1088Ala	p.E1088A	ENST00000375394	NM_006929.4	1088	gAg/gCg	0	not done		probablydamaging	
OR3A1		inserm.fr	GRCh37	17	3194929	3194929	+	stop_lost	Nonstop_Mutation	SNP	T	C	C			CHC303T																					ENST00000323404.1:c.948A>G	p.Ter316TrpextTer?	p.*316Wext*?	ENST00000323404	NM_002550.2	316	tgA/tgG	0	validated		possiblydamaging	
KRTAP6-2		inserm.fr	GRCh37	21	31971150	31971150	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1154T																					ENST00000334897.3:c.44A>G	p.Tyr15Cys	p.Y15C	ENST00000334897	NM_181604.1	15	tAt/tGt	0	not done		benign	
CYP21A2		inserm.fr	GRCh37	6	31975054	31975054	+	non_coding_transcript_exon_variant	RNA	SNP	G	C	C			BCB301T																					ENST00000342991.6:n.1177G>C		*393*	ENST00000342991				0	validated			
IFITM3		inserm.fr	GRCh37	11	319861	319861	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC917T																					ENST00000399808.4:c.379C>G	p.Leu127Val	p.L127V	ENST00000399808	NM_021034.2	127	Ctg/Gtg	0	validated		benign	
KRTAP20-1		inserm.fr	GRCh37	21	31988823	31988823	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM265T									Valid												ENST00000334664.2:c.50G>C	p.Gly17Ala	p.G17A	ENST00000334664	NM_181615.1	17	gGc/gCc	0	validated		probablydamaging	
PITRM1		inserm.fr	GRCh37	10	3200237	3200237	+	synonymous_variant	Silent	SNP	T	C	C			CHC1597T																					ENST00000380989.2:c.1245A>G	p.Val415=	p.V415=	ENST00000380989	NM_014889.3	415	gtA/gtG	0	not done		synonymous	
PITRM1		inserm.fr	GRCh37	10	3208466	3208466	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2208T																					ENST00000380989.2:c.373A>G	p.Lys125Glu	p.K125E	ENST00000380989	NM_014889.3	125	Aaa/Gaa	0	not done		probablydamaging	
HCRTR1		inserm.fr	GRCh37	1	32087115	32087115	+	synonymous_variant	Silent	SNP	T	C	C			CHC051T																					ENST00000403528.2:c.660T>C	p.Phe220=	p.F220=	ENST00000403528	NM_001525.2	220	ttT/ttC	0	validated		synonymous	
HCRTR1		inserm.fr	GRCh37	1	32089268	32089268	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC736T									Valid												ENST00000403528.2:c.883A>C	p.Lys295Gln	p.K295Q	ENST00000403528	NM_001525.2	295	Aag/Cag	0	validated		probablydamaging	
PDZD2		inserm.fr	GRCh37	5	32090325	32090325	+	synonymous_variant	Silent	SNP	T	C	C			CHC902T																					ENST00000438447.1:c.6771T>C	p.Val2257=	p.V2257=	ENST00000438447		2257	gtT/gtC	0	not done		synonymous	
BAI2		inserm.fr	GRCh37	1	32203072	32203072	+	synonymous_variant	Silent	SNP	G	C	C			CHC1745T																					ENST00000373658.3:c.2937C>G	p.Ser979=	p.S979=	ENST00000373658	NM_001703.2	979	tcC/tcG	0	not done		synonymous	
MTMR12		inserm.fr	GRCh37	5	32230424	32230424	+	synonymous_variant	Silent	SNP	T	C	C			CHC923T																					ENST00000382142.3:c.1704A>G	p.Thr568=	p.T568=	ENST00000382142	NM_001040446.1	568	acA/acG	0	not done		synonymous	
SPOCD1		inserm.fr	GRCh37	1	32256282	32256282	+	synonymous_variant	Silent	SNP	G	C	C			CHC794T																					ENST00000360482.2:c.3573C>G	p.Pro1191=	p.P1191=	ENST00000360482	NM_144569.4	1191	ccC/ccG	0	validated		synonymous	
RXFP2		inserm.fr	GRCh37	13	32360726	32360726	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1148T																					ENST00000298386.2:c.1025T>C	p.Met342Thr	p.M342T	ENST00000298386	NM_130806.3	342	aTg/aCg	0	not done		benign	
RXFP2		inserm.fr	GRCh37	13	32366037	32366037	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM759T																					ENST00000298386.2:c.1240G>C	p.Ala414Pro	p.A414P	ENST00000298386	NM_130806.3	414	Gct/Cct	0	validated		probablydamaging	
BTNL2		inserm.fr	GRCh37	6	32372903	32372903	+	synonymous_variant	Silent	SNP	T	C	C			CHC1736T																					ENST00000454136.3:c.240A>G	p.Gly80=	p.G80=	ENST00000454136		80	ggA/ggG	0	not done		synonymous	
ZFR		inserm.fr	GRCh37	5	32406983	32406983	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC609T									Valid												ENST00000265069.8:c.928A>G	p.Lys310Glu	p.K310E	ENST00000265069	NM_016107.3	310	Aaa/Gaa	0	validated		probablydamaging	
DMD		inserm.fr	GRCh37	X	32407723	32407723	+	synonymous_variant	Silent	SNP	T	C	C			CHC1757T																					ENST00000357033.4:c.4413A>G	p.Leu1471=	p.L1471=	ENST00000357033	NM_004007.2	1471	ctA/ctG	0	not done		synonymous	
WT1		inserm.fr	GRCh37	11	32414296	32414296	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1717T																					ENST00000332351.3:c.1255A>G	p.Lys419Glu	p.K419E	ENST00000332351	NM_024426.4	419	Aaa/Gaa	0	not done		probablydamaging	
RIGI		inserm.fr	GRCh37	9	32457323	32457323	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1044T																					ENST00000379883.2:c.2575A>G	p.Arg859Gly	p.R859G	ENST00000379883	NM_014314.3	859	Aga/Gga	0	not done		benign	
DMD		inserm.fr	GRCh37	X	32490300	32490300	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC614T																					ENST00000357033.4:c.2930A>G	p.Gln977Arg	p.Q977R	ENST00000357033	NM_004007.2	977	cAg/cGg	0	validated		benign	
MRGPRE		inserm.fr	GRCh37	11	3249317	3249317	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2052T																					ENST00000436689.2:c.710T>G	p.Leu237Arg	p.L237R	ENST00000436689	NM_001039165.2	237	cTg/cGg	0	not done		probablydamaging	
ARHGAP5		inserm.fr	GRCh37	14	32561320	32561320	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1601T																					ENST00000345122.3:c.1445T>C	p.Ile482Thr	p.I482T	ENST00000345122	NM_001030055.1	482	aTa/aCa	0	not done		benign	
DYNC1LI1		inserm.fr	GRCh37	3	32578550	32578550	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1137T																					ENST00000273130.4:c.785A>G	p.Glu262Gly	p.E262G	ENST00000273130	NM_016141.3	262	gAa/gGa	0	not done		probablydamaging	
BIRC6		inserm.fr	GRCh37	2	32626235	32626235	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1595T																					ENST00000421745.2:c.1039G>C	p.Glu347Gln	p.E347Q	ENST00000421745	NM_016252.3	347	Gaa/Caa	0	validated		probablydamaging	
CCDC73		inserm.fr	GRCh37	11	32635164	32635164	+	synonymous_variant	Silent	SNP	T	C	C			CHC902T																					ENST00000335185.5:c.2700A>G	p.Val900=	p.V900=	ENST00000335185	NM_001008391.3	900	gtA/gtG	0	not done		synonymous	
SLC5A4		inserm.fr	GRCh37	22	32651186	32651186	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1720T																					ENST00000266086.4:c.131T>G	p.Leu44Arg	p.L44R	ENST00000266086	NM_014227.2	44	cTg/cGg	0	not done		probablydamaging	
CCDC73		inserm.fr	GRCh37	11	32676468	32676468	+	synonymous_variant	Silent	SNP	T	C	C			BCM703T																					ENST00000335185.5:c.696A>G	p.Gln232=	p.Q232=	ENST00000335185	NM_001008391.3	232	caA/caG	0	validated		synonymous	
BIRC6		inserm.fr	GRCh37	2	32702585	32702585	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM791T																					ENST00000421745.2:c.7002A>C	p.Lys2334Asn	p.K2334N	ENST00000421745	NM_016252.3	2334	aaA/aaC	0	validated		probablydamaging	
C20orf194		inserm.fr	GRCh37	20	3270813	3270813	+	synonymous_variant	Silent	SNP	G	C	C			CHC1611T																					ENST00000252032.9:c.2289C>G	p.Leu763=	p.L763=	ENST00000252032	NM_001009984.2	763	ctC/ctG	0	not done		synonymous	
HLA-DQA2		inserm.fr	GRCh37	6	32713771	32713771	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2141T																					ENST00000374940.3:c.535T>C	p.Phe179Leu	p.F179L	ENST00000374940	NM_020056.4	179	Ttc/Ctc	0	not done		benign	
RFPL3		inserm.fr	GRCh37	22	32756364	32756364	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC912T																					ENST00000249007.4:c.499G>C	p.Val167Leu	p.V167L	ENST00000249007	NM_001098535.1	167	Gtt/Ctt	0	validated		benign	
MIER2		inserm.fr	GRCh37	19	327984	327984	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2206T																					ENST00000264819.4:c.249C>G	p.Asn83Lys	p.N83K	ENST00000264819	NM_017550.1	83	aaC/aaG	0	not done		benign	
TAP1		inserm.fr	GRCh37	6	32821460	32821460	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM337T																					ENST00000354258.4:c.134C>G	p.Ala45Gly	p.A45G	ENST00000354258	NM_000593.5	45	gCg/gGg	0	validated		benign	
DMD		inserm.fr	GRCh37	X	32827632	32827632	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1192T																					ENST00000357033.4:c.627A>G	p.Ile209Met	p.I209M	ENST00000357033	NM_004007.2	209	atA/atG	0	not done		possiblydamaging	
AHCY		inserm.fr	GRCh37	20	32880181	32880181	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1191T																					ENST00000217426.2:c.428A>G	p.Tyr143Cys	p.Y143C	ENST00000217426	NM_000687.2	143	tAc/tGc	0	not done		probablydamaging	
YARS2		inserm.fr	GRCh37	12	32903767	32903767	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2098T																					ENST00000324868.8:c.989A>G	p.Asp330Gly	p.D330G	ENST00000324868	NM_001040436.2	330	gAt/gGt	0	not done		benign	
CELF5		inserm.fr	GRCh37	19	3293385	3293385	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1611T																					ENST00000292672.2:c.1399G>C	p.Gly467Arg	p.G467R	ENST00000292672	NM_021938.3	467	Ggc/Cgc	0	not done		probablydamaging	
BRD2		inserm.fr	GRCh37	6	32944634	32944634	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1597T																					ENST00000395289.2:c.1121A>C	p.Lys374Thr	p.K374T	ENST00000395289		374	aAa/aCa	0	not done		possiblydamaging	
BRD2		inserm.fr	GRCh37	6	32947859	32947859	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000395289.2:c.2201T>C	p.Leu734Pro	p.L734P	ENST00000395289		734	cTt/cCt	0	not done		probablydamaging	
PKP2		inserm.fr	GRCh37	12	32975544	32975544	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2110Tbis																					ENST00000070846.6:c.1828A>G	p.Ile610Val	p.I610V	ENST00000070846	NM_004572.3	610	Att/Gtt	0	not done		possiblydamaging	
TTC27		inserm.fr	GRCh37	2	32983427	32983427	+	synonymous_variant	Silent	SNP	T	C	C			CHC1624T																					ENST00000317907.4:c.1521T>C	p.Asp507=	p.D507=	ENST00000317907	NM_017735.4	507	gaT/gaC	0	validated		synonymous	
CCR4		inserm.fr	GRCh37	3	32995985	32995985	+	synonymous_variant	Silent	SNP	T	C	C			CHC327T																					ENST00000330953.5:c.1071T>C	p.His357=	p.H357=	ENST00000330953	NM_005508.4	357	caT/caC	0	validated		synonymous	
PKP2		inserm.fr	GRCh37	12	33031030	33031030	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC218T																					ENST00000070846.6:c.784C>G	p.Leu262Val	p.L262V	ENST00000070846	NM_004572.3	262	Ctg/Gtg	0	validated		benign	
TTC27		inserm.fr	GRCh37	2	33037636	33037636	+	synonymous_variant	Silent	SNP	T	C	C			CHC258T																					ENST00000317907.4:c.2262T>C	p.Ile754=	p.I754=	ENST00000317907	NM_017735.4	754	atT/atC	0	validated		synonymous	
SOD1		inserm.fr	GRCh37	21	33039601	33039601	+	synonymous_variant	Silent	SNP	T	C	C			CHC1598T																					ENST00000270142.6:c.270T>C	p.Ala90=	p.A90=	ENST00000270142	NM_000454.4	90	gcT/gcC	0	not done		synonymous	
SCAF4		inserm.fr	GRCh37	21	33078660	33078660	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM723T																					ENST00000286835.7:c.41T>G	p.Leu14Arg	p.L14R	ENST00000286835	NM_020706.2	14	cTt/cGt	0	validated		probablydamaging	
RBBP4		inserm.fr	GRCh37	1	33123041	33123041	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1712T																					ENST00000373493.5:c.178G>C	p.Asp60His	p.D60H	ENST00000373493	NM_005610.2	60	Gat/Cat	0	not done		possiblydamaging	
ITGB1		inserm.fr	GRCh37	10	33197354	33197354	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC451T																					ENST00000396033.2:c.2273A>G	p.His758Arg	p.H758R	ENST00000396033	NM_133376.2	758	cAt/cGt	0	validated		probablydamaging	
ITGB1		inserm.fr	GRCh37	10	33218888	33218888	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC121T																					ENST00000396033.2:c.238A>G	p.Ile80Val	p.I80V	ENST00000396033	NM_133376.2	80	Ata/Gta	0	validated		benign	
WDR46		inserm.fr	GRCh37	6	33254885	33254885	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1763T																					ENST00000374617.4:c.998A>G	p.His333Arg	p.H333R	ENST00000374617	NM_005452.5	333	cAt/cGt	0	not done		probablydamaging	
TAPBP		inserm.fr	GRCh37	6	33281488	33281488	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM337T									Valid												ENST00000426633.2:c.191T>G	p.Leu64Arg	p.L64R	ENST00000426633	NM_172208.2	64	cTc/cGc	0	validated		possiblydamaging	
PDS5B		inserm.fr	GRCh37	13	33284148	33284148	+	synonymous_variant	Silent	SNP	T	C	C			CHC1566T																					ENST00000315596.10:c.2028T>C	p.Cys676=	p.C676=	ENST00000315596	NM_015032.3	676	tgT/tgC	0	not done		synonymous	
DAXX		inserm.fr	GRCh37	6	33288003	33288003	+	splice_acceptor_variant	Splice_Site	SNP	T	C	C			CHC1756T																					ENST00000374542.5:c.1252-2A>G		p.X418_splice	ENST00000374542	NM_001141970.1			0	not done		damaging	
TDRD12		inserm.fr	GRCh37	19	33288764	33288764	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2208T																					ENST00000444215.2:c.1597G>C	p.Glu533Gln	p.E533Q	ENST00000444215		533	Gag/Cag	0	not done		benign	
NCOA6		inserm.fr	GRCh37	20	33331129	33331129	+	synonymous_variant	Silent	SNP	T	C	C			CHC1205T																					ENST00000374796.2:c.2931A>G	p.Pro977=	p.P977=	ENST00000374796		977	ccA/ccG	0	not done		synonymous	
HIPK3		inserm.fr	GRCh37	11	33358653	33358653	+	synonymous_variant	Silent	SNP	A	C	C			CHC902T																					ENST00000303296.4:c.1254A>C	p.Pro418=	p.P418=	ENST00000303296	NM_005734.4	418	ccA/ccC	0	not done		synonymous	
HIPK3		inserm.fr	GRCh37	11	33370358	33370358	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC884T									Valid												ENST00000303296.4:c.2660T>C	p.Leu887Pro	p.L887P	ENST00000303296	NM_005734.4	887	cTc/cCc	0	validated		benign	
RNF19B		inserm.fr	GRCh37	1	33408051	33408051	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1745T																					ENST00000373456.7:c.1415C>G	p.Ala472Gly	p.A472G	ENST00000373456	NM_153341.2	472	gCc/gGc	0	not done		probablydamaging	
RNF122		inserm.fr	GRCh37	8	33416202	33416202	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC703T																					ENST00000256257.1:c.113A>G	p.Tyr38Cys	p.Y38C	ENST00000256257	NM_024787.3	38	tAt/tGt	0	validated		probablydamaging	
CEP89		inserm.fr	GRCh37	19	33424438	33424438	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1148T																					ENST00000305768.5:c.805A>G	p.Lys269Glu	p.K269E	ENST00000305768	NM_032816.3	269	Aaa/Gaa	0	not done		probablydamaging	
UNC45B		inserm.fr	GRCh37	17	33498344	33498344	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1040T																					ENST00000268876.5:c.1699A>C	p.Ser567Arg	p.S567R	ENST00000268876	NM_173167.2	567	Agt/Cgt	0	not done		benign	
GSS		inserm.fr	GRCh37	20	33530800	33530800	+	synonymous_variant	Silent	SNP	T	C	C			CHC1568T																					ENST00000216951.2:c.285A>G	p.Lys95=	p.K95=	ENST00000216951	NM_000178.2	95	aaA/aaG	0	not done		synonymous	
ANKRD18B		inserm.fr	GRCh37	9	33541216	33541216	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM321T																					ENST00000290943.6:c.880G>C	p.Gly294Arg	p.G294R	ENST00000290943	NM_001244752.1	294	Ggt/Cgt	0	validated			
MYH7B		inserm.fr	GRCh37	20	33584520	33584520	+	synonymous_variant	Silent	SNP	T	C	C			CHC1152T																					ENST00000262873.7:c.3351T>C	p.Asp1117=	p.D1117=	ENST00000262873	NM_020884.3	1117	gaT/gaC	0	not done		synonymous	
ITPR3		inserm.fr	GRCh37	6	33648200	33648200	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1591T																					ENST00000374316.5:c.4319T>C	p.Leu1440Pro	p.L1440P	ENST00000374316		1440	cTc/cCc	0	not done		benign	
MIS18A		inserm.fr	GRCh37	21	33651138	33651138	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC434T																					ENST00000290130.3:c.188A>G	p.Asp63Gly	p.D63G	ENST00000290130	NM_018944.2	63	gAc/gGc	0	validated		benign	
SLFN11		inserm.fr	GRCh37	17	33689783	33689783	+	synonymous_variant	Silent	SNP	T	C	C			CHC796T																					ENST00000394566.1:c.1044A>G	p.Val348=	p.V348=	ENST00000394566	NM_001104587.1	348	gtA/gtG	0	validated		synonymous	
SLC39A6		inserm.fr	GRCh37	18	33703604	33703604	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC320T									Valid												ENST00000269187.5:c.994A>G	p.Ile332Val	p.I332V	ENST00000269187	NM_012319.3	332	Att/Gtt	0	validated		possiblydamaging	
CLASP2		inserm.fr	GRCh37	3	33728604	33728604	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM567T																					ENST00000468888.2:c.494T>G	p.Ile165Ser	p.I165S	ENST00000468888		165	aTc/aGc	0	validated		benign	
ELP2		inserm.fr	GRCh37	18	33747146	33747146	+	synonymous_variant	Silent	SNP	T	C	C			BCB307T																					ENST00000442325.2:c.2232T>C	p.Pro744=	p.P744=	ENST00000442325	NM_001242875.1	744	ccT/ccC	0	validated		synonymous	
FBXO3		inserm.fr	GRCh37	11	33780081	33780081	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC432T																					ENST00000265651.3:c.425A>G	p.Tyr142Cys	p.Y142C	ENST00000265651	NM_012175.3	142	tAt/tGt	0	not done		probablydamaging	
RP11-598D12.4		inserm.fr	GRCh37	16	33784339	33784339	+	non_coding_transcript_exon_variant	RNA	SNP	G	C	C			CHC2052T																					ENST00000568600.1:n.1344G>C		*448*	ENST00000568600				0	validated		synonymous	
PHC2		inserm.fr	GRCh37	1	33794500	33794500	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC433T									Valid												ENST00000257118.5:c.2393A>G	p.Asp798Gly	p.D798G	ENST00000257118	NM_198040.2	798	gAc/gGc	0	validated		probablydamaging	
EIF6		inserm.fr	GRCh37	20	33872015	33872015	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM791T																					ENST00000374450.3:c.157A>G	p.Ile53Val	p.I53V	ENST00000374450	NM_002212.3	53	Atc/Gtc	0	validated		benign	
LMO2		inserm.fr	GRCh37	11	33880916	33880916	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM723T																					ENST00000257818.2:c.670A>G	p.Asn224Asp	p.N224D	ENST00000257818	NM_005574.3	224	Aat/Gat	0	validated		possiblydamaging	
RYR3		inserm.fr	GRCh37	15	33945019	33945019	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1148T																					ENST00000389232.4:c.4243G>C	p.Val1415Leu	p.V1415L	ENST00000389232	NM_001036.3	1415	Gtg/Ctg	0	not done		benign	
LARGE		inserm.fr	GRCh37	22	33960983	33960983	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1602T																					ENST00000354992.2:c.638A>G	p.Asn213Ser	p.N213S	ENST00000354992	NM_004737.4	213	aAt/aGt	0	not done		probablydamaging	
CSMD2		inserm.fr	GRCh37	1	34038189	34038189	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	C	C			CHC1611T																					ENST00000241312.4:c.7685A>G	p.His2562Arg	p.H2562R	ENST00000241312		2562	cAc/cGc	0	not done		benign	
CSMD2		inserm.fr	GRCh37	1	34080128	34080128	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	C	C			CHC1602T																					ENST00000241312.4:c.5989A>G	p.Lys1997Glu	p.K1997E	ENST00000241312		1997	Aaa/Gaa	0	not done		benign	
C17orf50		inserm.fr	GRCh37	17	34091257	34091257	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM545T																					ENST00000285023.4:c.245T>C	p.Val82Ala	p.V82A	ENST00000285023	NM_145272.3	82	gTg/gCg	0	validated		benign	
PAXBP1		inserm.fr	GRCh37	21	34116010	34116010	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM567T																					ENST00000331923.4:c.2246T>G	p.Phe749Cys	p.F749C	ENST00000331923	NM_016631.3	749	tTt/tGt	0	validated		probablydamaging	
PAXBP1		inserm.fr	GRCh37	21	34120881	34120881	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1191T																					ENST00000331923.4:c.1852A>G	p.Ile618Val	p.I618V	ENST00000331923	NM_016631.3	618	Att/Gtt	0	not done		probablydamaging	
RYR3		inserm.fr	GRCh37	15	34123210	34123210	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC801T																					ENST00000389232.4:c.11381T>C	p.Ile3794Thr	p.I3794T	ENST00000389232	NM_001036.3	3794	aTt/aCt	0	not done		probablydamaging	
RYR3		inserm.fr	GRCh37	15	34130871	34130871	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCB109T																					ENST00000389232.4:c.12690G>C	p.Lys4230Asn	p.K4230N	ENST00000389232	NM_001036.3	4230	aaG/aaC	0	validated		benign	
FAM47A		inserm.fr	GRCh37	X	34149975	34149975	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1774T																					ENST00000346193.3:c.421A>G	p.Met141Val	p.M141V	ENST00000346193	NM_203408.3	141	Atg/Gtg	0	validated		probablydamaging	
RYR3		inserm.fr	GRCh37	15	34151853	34151853	+	synonymous_variant	Silent	SNP	T	C	C			BCB325T																					ENST00000389232.4:c.14220T>C	p.Asp4740=	p.D4740=	ENST00000389232	NM_001036.3	4740	gaT/gaC	0	validated		synonymous	
ABTB2		inserm.fr	GRCh37	11	34174115	34174115	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2103T																					ENST00000435224.2:c.2897A>G	p.Glu966Gly	p.E966G	ENST00000435224	NM_145804.2	966	gAa/gGa	0	not done		probablydamaging	
FHOD3		inserm.fr	GRCh37	18	34238054	34238054	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2098T																					ENST00000257209.4:c.1213A>C	p.Asn405His	p.N405H	ENST00000257209	NM_025135.2	405	Aat/Cat	0	not done		possiblydamaging	
UBAP1		inserm.fr	GRCh37	9	34249906	34249906	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC258T																					ENST00000545103.1:c.1405T>C	p.Ser469Pro	p.S469P	ENST00000545103	NM_001171201.1	469	Tcg/Ccg	0	validated		probablydamaging	
MEGF6		inserm.fr	GRCh37	1	3425255	3425255	+	splice_acceptor_variant	Splice_Site	SNP	T	C	C			BCM695T									Valid												ENST00000356575.4:c.1529-2A>G		p.X510_splice	ENST00000356575	NM_001409.3			0	validated		damaging	
KIF24		inserm.fr	GRCh37	9	34256399	34256399	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1055T									Valid												ENST00000379166.2:c.3206A>G	p.Glu1069Gly	p.E1069G	ENST00000379166	NM_194313.2	1069	gAg/gGg	0	validated		probablydamaging	
NPAS3		inserm.fr	GRCh37	14	34269351	34269351	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1137T																					ENST00000356141.4:c.1838G>C	p.Ser613Thr	p.S613T	ENST00000356141		613	aGc/aCc	0	not done		benign	
NPAS3		inserm.fr	GRCh37	14	34269527	34269527	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2352T																					ENST00000356141.4:c.2014G>C	p.Glu672Gln	p.E672Q	ENST00000356141		672	Gag/Cag	0	not done		probablydamaging	
CSMD1		inserm.fr	GRCh37	8	3443718	3443718	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2208T																					ENST00000537824.1:c.1162A>G	p.Thr388Ala	p.T388A	ENST00000537824	NM_033225.5	388	Acc/Gcc	0	not done		possiblydamaging	
ZNF174		inserm.fr	GRCh37	16	3452169	3452169	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM265T									Valid												ENST00000268655.4:c.165A>C	p.Gln55His	p.Q55H	ENST00000268655	NM_003450.2	55	caA/caC	0	validated		probablydamaging	
SLC12A6		inserm.fr	GRCh37	15	34610846	34610846	+	intron_variant	Intron	SNP	G	C	C			CHC912T																					ENST00000354181.3:c.271+17765C>G		*91*	ENST00000354181				0	validated			
IL11RA		inserm.fr	GRCh37	9	34656903	34656903	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC1207T																					ENST00000555003.1:c.329G>C	p.Gly110Ala	p.G110A	ENST00000555003		110	gGc/gCc	0	not done		probablydamaging	
C1orf94		inserm.fr	GRCh37	1	34666456	34666456	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM265T																					ENST00000488417.1:c.1093T>C	p.Cys365Arg	p.C365R	ENST00000488417	NM_001134734.1	365	Tgt/Cgt	0	validated		probablydamaging	
LSM14A		inserm.fr	GRCh37	19	34685458	34685458	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC917T																					ENST00000544216.3:c.197T>C	p.Ile66Thr	p.I66T	ENST00000544216	NM_015578.2	66	aTa/aCa	0	validated		probablydamaging	
NPSR1		inserm.fr	GRCh37	7	34698112	34698112	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1207T																					ENST00000359791.1:c.88G>C	p.Val30Leu	p.V30L	ENST00000359791	NM_207173.1	30	Gtg/Ctg	0	not done		benign	
DONSON		inserm.fr	GRCh37	21	34950660	34950660	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC796T									Valid												ENST00000303071.5:c.1654T>G	p.Leu552Val	p.L552V	ENST00000303071	NM_017613.3	552	Tta/Gta	0	validated		probablydamaging	
DONSON		inserm.fr	GRCh37	21	34955900	34955900	+	stop_gained	Nonsense_Mutation	SNP	A	C	C			CHC429T									Valid												ENST00000303071.5:c.858T>G	p.Tyr286Ter	p.Y286*	ENST00000303071	NM_017613.3	286	taT/taG	0	validated		damaging	
DNAJB5		inserm.fr	GRCh37	9	34990718	34990718	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC805T																					ENST00000453597.3:c.217G>C	p.Gly73Arg	p.G73R	ENST00000453597	NM_001135004.2	73	Gga/Cga	0	not done		probablydamaging	
CELF4		inserm.fr	GRCh37	18	35065556	35065556	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1152T																					ENST00000420428.2:c.301A>G	p.Thr101Ala	p.T101A	ENST00000420428	NM_020180.3	101	Acc/Gcc	0	validated		probablydamaging	
ATOSB		inserm.fr	GRCh37	9	35107960	35107960	+	synonymous_variant	Silent	SNP	T	C	C			CHC614T																					ENST00000378561.1:c.312A>G	p.Pro104=	p.P104=	ENST00000378561		104	ccA/ccG	0	validated		synonymous	
AQR		inserm.fr	GRCh37	15	35174822	35174822	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCB157T																					ENST00000156471.5:c.3046T>G	p.Leu1016Val	p.L1016V	ENST00000156471	NM_014691.2	1016	Ttg/Gtg	0	validated		probablydamaging	
CFL2		inserm.fr	GRCh37	14	35182538	35182538	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB111T																					ENST00000341223.3:c.233A>G	p.Asn78Ser	p.N78S	ENST00000341223	NM_021914.7	78	aAt/aGt	0	validated		benign	
CD44		inserm.fr	GRCh37	11	35219768	35219768	+	synonymous_variant	Silent	SNP	T	C	C			CHC2200T																					ENST00000428726.2:c.897T>C	p.Asp299=	p.D299=	ENST00000428726	NM_000610.3	299	gaT/gaC	0	not done		synonymous	
AATF		inserm.fr	GRCh37	17	35348132	35348132	+	synonymous_variant	Silent	SNP	T	C	C			BCM723T																					ENST00000225402.5:c.1374T>C	p.Phe458=	p.F458=	ENST00000225402	NM_012138.3	458	ttT/ttC	0	validated		synonymous	
CUL2		inserm.fr	GRCh37	10	35360147	35360147	+	synonymous_variant	Silent	SNP	T	C	C			CHC1052T																					ENST00000537177.1:c.156A>G	p.Ala52=	p.A52=	ENST00000537177	NM_001198779.1	52	gcA/gcG	0	validated		synonymous	
PPARD		inserm.fr	GRCh37	6	35392508	35392508	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC302T									Valid												ENST00000311565.4:c.1030G>C	p.Asp344His	p.D344H	ENST00000311565	NM_001171818.1	344	Gat/Cat	0	validated		probablydamaging	
PAMR1		inserm.fr	GRCh37	11	35456118	35456118	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC917T																					ENST00000278360.3:c.1619T>G	p.Val540Gly	p.V540G	ENST00000278360	NM_015430.2	540	gTt/gGt	0	validated		probablydamaging	
SLC5A3		inserm.fr	GRCh37	21	35467898	35467898	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1531T																					ENST00000381151.3:c.401A>C	p.Tyr134Ser	p.Y134S	ENST00000381151		134	tAt/tCt	0	not done		probablydamaging	
WRAP73		inserm.fr	GRCh37	1	3555345	3555345	+	synonymous_variant	Silent	SNP	A	C	C			BCM275T																					ENST00000270708.7:c.381T>G	p.Ser127=	p.S127=	ENST00000270708	NM_017818.3	127	tcT/tcG	0	validated		synonymous	
SAMHD1		inserm.fr	GRCh37	20	35559227	35559227	+	synonymous_variant	Silent	SNP	T	C	C			CHC2034T																					ENST00000262878.4:c.561A>G	p.Pro187=	p.P187=	ENST00000262878	NM_015474.3	187	ccA/ccG	0	not done		synonymous	
RUSC2		inserm.fr	GRCh37	9	35561316	35561316	+	synonymous_variant	Silent	SNP	G	C	C			CHC1601T																					ENST00000455600.1:c.4488G>C	p.Val1496=	p.V1496=	ENST00000455600	NM_001135999.1	1496	gtG/gtC	0	not done		synonymous	
PPP2R3C		inserm.fr	GRCh37	14	35577421	35577421	+	synonymous_variant	Silent	SNP	G	C	C			CHC902T																					ENST00000261475.5:c.426C>G	p.Val142=	p.V142=	ENST00000261475	NM_017917.2	142	gtC/gtG	0	not done		synonymous	
NBEA		inserm.fr	GRCh37	13	35716432	35716432	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1566T																					ENST00000400445.3:c.2363A>C	p.His788Pro	p.H788P	ENST00000400445	NM_015678.4	788	cAt/cCt	0	not done		possiblydamaging	
LOC388820		inserm.fr	GRCh37	21	35791721	35791721	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2034T																					ENST00000450895.1:c.215T>G	p.Ile72Ser	p.I72S	ENST00000450895		72	aTc/aGc	0	not done			
SPEF2		inserm.fr	GRCh37	5	35792469	35792469	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC912T									Valid												ENST00000356031.3:c.4475A>C	p.Asp1492Ala	p.D1492A	ENST00000356031	NM_024867.3	1492	gAc/gCc	0	validated		probablydamaging	
TADA2A		inserm.fr	GRCh37	17	35825539	35825539	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC059T																					ENST00000394395.2:c.717G>C	p.Met239Ile	p.M239I	ENST00000394395	NM_001166105.1	239	atG/atC	0	validated		benign	
CD22		inserm.fr	GRCh37	19	35828785	35828785	+	synonymous_variant	Silent	SNP	T	C	C			CHC327T																					ENST00000085219.5:c.846T>C	p.Asp282=	p.D282=	ENST00000085219	NM_001771.3	282	gaT/gaC	0	validated		synonymous	
NFKBIA		inserm.fr	GRCh37	14	35871259	35871259	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1035T									Valid												ENST00000216797.5:c.914A>G	p.Tyr305Cys	p.Y305C	ENST00000216797	NM_020529.2	305	tAt/tGt	0	validated		probablydamaging	
NFKBIA		inserm.fr	GRCh37	14	35873759	35873759	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2358T																					ENST00000216797.5:c.92A>G	p.Asp31Gly	p.D31G	ENST00000216797	NM_020529.2	31	gAc/gGc	0	validated		probablydamaging	
NLRC3		inserm.fr	GRCh37	16	3592248	3592248	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1209T																					ENST00000448023.2:c.3188A>G	p.Asp1063Gly	p.D1063G	ENST00000448023		1063	gAc/gGc	0	not done		benign	
SLC26A8		inserm.fr	GRCh37	6	35959501	35959501	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM703T																					ENST00000490799.1:c.877A>G	p.Ile293Val	p.I293V	ENST00000490799	NM_052961.3	293	Atc/Gtc	0	validated		benign	
ATP4A		inserm.fr	GRCh37	19	36041526	36041526	+	synonymous_variant	Silent	SNP	G	C	C			BCM791T																					ENST00000262623.3:c.3099C>G	p.Leu1033=	p.L1033=	ENST00000262623	NM_000704.2	1033	ctC/ctG	0	validated		synonymous	
HNF1B		inserm.fr	GRCh37	17	36093629	36093629	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1745T																					ENST00000225893.4:c.730C>G	p.Gln244Glu	p.Q244E	ENST00000225893	NM_001165923.1	244	Caa/Gaa	0	not done		benign	
NBEA		inserm.fr	GRCh37	13	36129171	36129171	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1207T																					ENST00000400445.3:c.6854T>C	p.Met2285Thr	p.M2285T	ENST00000400445	NM_015678.4	2285	aTg/aCg	0	not done		possiblydamaging	
BRPF3		inserm.fr	GRCh37	6	36178164	36178164	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1186T																					ENST00000357641.6:c.2038G>C	p.Val680Leu	p.V680L	ENST00000357641	NM_015695.2	680	Gtc/Ctc	0	not done		benign	
NADK2		inserm.fr	GRCh37	5	36225714	36225714	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1052T																					ENST00000381937.4:c.490A>G	p.Met164Val	p.M164V	ENST00000381937	NM_001085411.1	164	Atg/Gtg	0	validated		possiblydamaging	
RALGAPA1		inserm.fr	GRCh37	14	36244263	36244263	+	splice_acceptor_variant	Splice_Site	SNP	T	C	C			CHC1600T																					ENST00000307138.6:c.218-2A>G		p.X73_splice	ENST00000307138	NM_194301.2			0	not done		possiblydamaging	
C19orf55		inserm.fr	GRCh37	19	36255799	36255799	+	synonymous_variant	Silent	SNP	G	C	C			CHC1594T																					ENST00000544099.1:c.588G>C	p.Leu196=	p.L196=	ENST00000544099		196	ctG/ctC	0	not done		synonymous	
AGO4		inserm.fr	GRCh37	1	36291037	36291037	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1591T																					ENST00000373210.3:c.430G>C	p.Val144Leu	p.V144L	ENST00000373210	NM_017629.3	144	Gtc/Ctc	0	not done		benign	
KIRREL2		inserm.fr	GRCh37	19	36352049	36352049	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC155T									Valid												ENST00000360202.5:c.1082G>C	p.Arg361Pro	p.R361P	ENST00000360202	NM_032123.5	361	cGt/cCt	0	validated		probablydamaging	
RNF38		inserm.fr	GRCh37	9	36352771	36352771	+	synonymous_variant	Silent	SNP	G	C	C			BCM375T																					ENST00000259605.6:c.1146C>G	p.Pro382=	p.P382=	ENST00000259605	NM_022781.4	382	ccC/ccG	0	validated		synonymous	
APLP1		inserm.fr	GRCh37	19	36359176	36359176	+	upstream_gene_variant	5'Flank	SNP	G	C	C			CHC1594T																								ENST00000221891	NM_001024807.1			0	not done		damaging	
NFKBID		inserm.fr	GRCh37	19	36387013	36387013	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB109T																					ENST00000396901.1:c.475A>G	p.Thr159Ala	p.T159A	ENST00000396901	NM_139239.1	159	Acg/Gcg	0	validated		benign	
SLX4		inserm.fr	GRCh37	16	3644467	3644467	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1742T																					ENST00000294008.3:c.2147T>G	p.Leu716Arg	p.L716R	ENST00000294008	NM_032444.2	716	cTc/cGc	0	not done		possiblydamaging	
SLX4		inserm.fr	GRCh37	16	3646315	3646315	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC805T																					ENST00000294008.3:c.1763A>G	p.His588Arg	p.H588R	ENST00000294008	NM_032444.2	588	cAc/cGc	0	not done		possiblydamaging	
GPR179		inserm.fr	GRCh37	17	36482712	36482712	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1739T																					ENST00000342292.4:c.6740C>G	p.Thr2247Ser	p.T2247S	ENST00000342292	NM_001004334.2	2247	aCt/aGt	0	not done		benign	
GPR179		inserm.fr	GRCh37	17	36489878	36489878	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM791T																					ENST00000342292.4:c.1828C>G	p.Leu610Val	p.L610V	ENST00000342292	NM_001004334.2	610	Ctc/Gtc	0	validated		probablydamaging	
SLX4		inserm.fr	GRCh37	16	3650987	3650987	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2048T																					ENST00000294008.3:c.1156A>G	p.Met386Val	p.M386V	ENST00000294008	NM_032444.2	386	Atg/Gtg	0	not done		benign	
RAG2		inserm.fr	GRCh37	11	36615620	36615620	+	synonymous_variant	Silent	SNP	T	C	C			CHC1205T																					ENST00000311485.3:c.99A>G	p.Gln33=	p.Q33=	ENST00000311485	NM_000536.3	33	caA/caG	0	not done		synonymous	
CDKN1A		inserm.fr	GRCh37	6	36652023	36652023	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC303T									Valid												ENST00000244741.5:c.145T>C	p.Trp49Arg	p.W49R	ENST00000244741	NM_000389.4	49	Tgg/Cgg	0	validated		probablydamaging	
RPRD1B		inserm.fr	GRCh37	20	36694618	36694618	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T																					ENST00000373433.4:c.791A>C	p.Asn264Thr	p.N264T	ENST00000373433	NM_021215.3	264	aAt/aCt	0	validated		benign	
KCNU1		inserm.fr	GRCh37	8	36767012	36767012	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1595T																					ENST00000399881.3:c.2290T>C	p.Trp764Arg	p.W764R	ENST00000399881	NM_001031836.2	764	Tgg/Cgg	0	validated		possiblydamaging	
SH3D21		inserm.fr	GRCh37	1	36786266	36786266	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1183T																					ENST00000453908.2:c.2002G>C	p.Glu668Gln	p.E668Q	ENST00000453908	NM_001162530.1	668	Gag/Cag	0	not done		possiblydamaging	
NAMPTL		inserm.fr	GRCh37	10	36812046	36812046	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000440465.1:c.1117A>G	p.Arg373Gly	p.R373G	ENST00000440465		373	Aga/Gga	0	not done			
ZFP14		inserm.fr	GRCh37	19	36831568	36831568	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1148T																					ENST00000270001.7:c.1160A>G	p.Gln387Arg	p.Q387R	ENST00000270001	NM_020917.2	387	cAg/cGg	0	not done		probablydamaging	
ZFP14		inserm.fr	GRCh37	19	36831571	36831571	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1148T																					ENST00000270001.7:c.1157A>G	p.His386Arg	p.H386R	ENST00000270001	NM_020917.2	386	cAt/cGt	0	not done		probablydamaging	
TRANK1		inserm.fr	GRCh37	3	36874904	36874904	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2351T																					ENST00000429976.2:c.6038A>G	p.Asn2013Ser	p.N2013S	ENST00000429976		2013	aAc/aGc	0	not done		possiblydamaging	
TRANK1		inserm.fr	GRCh37	3	36875112	36875112	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC923T																					ENST00000429976.2:c.5830C>G	p.Gln1944Glu	p.Q1944E	ENST00000429976		1944	Cag/Gag	0	not done		possiblydamaging	
C15orf41		inserm.fr	GRCh37	15	36983894	36983894	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC433T																					ENST00000566621.1:c.355T>C	p.Ser119Pro	p.S119P	ENST00000566621	NM_001130010.1	119	Tct/Cct	0	validated		benign	
ZNF260		inserm.fr	GRCh37	19	37005195	37005195	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1592T																					ENST00000523638.1:c.946A>G	p.Ile316Val	p.I316V	ENST00000523638	NM_001166038.1	316	Atc/Gtc	0	not done		benign	
EPM2AIP1		inserm.fr	GRCh37	3	37032925	37032925	+	synonymous_variant	Silent	SNP	T	C	C			CHC1720T																					ENST00000322716.5:c.1644A>G	p.Ala548=	p.A548=	ENST00000322716	NM_014805.3	548	gcA/gcG	0	not done		synonymous	
ZNF529		inserm.fr	GRCh37	19	37038527	37038527	+	synonymous_variant	Silent	SNP	T	C	C			CHC1595T																					ENST00000591340.1:c.933A>G	p.Lys311=	p.K311=	ENST00000591340	NM_020951.4	311	aaA/aaG	0	validated		synonymous	
C5orf42		inserm.fr	GRCh37	5	37107873	37107873	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM617T																					ENST00000425232.2:c.9425C>G	p.Ser3142Cys	p.S3142C	ENST00000425232	NM_023073.3	3142	tCt/tGt	0	validated		probablydamaging	
LRRFIP2		inserm.fr	GRCh37	3	37149582	37149582	+	synonymous_variant	Silent	SNP	T	C	C			CHC1750T																					ENST00000421307.1:c.696A>G	p.Ser232=	p.S232=	ENST00000421307	NM_006309.2	232	tcA/tcG	0	not done		synonymous	
C5orf42		inserm.fr	GRCh37	5	37183072	37183072	+	synonymous_variant	Silent	SNP	T	C	C			CHC1192T																					ENST00000425232.2:c.5211A>G	p.Leu1737=	p.L1737=	ENST00000425232	NM_023073.3	1737	ctA/ctG	0	not done		synonymous	
NCF4		inserm.fr	GRCh37	22	37271836	37271836	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1598T																					ENST00000397147.4:c.769T>C	p.Trp257Arg	p.W257R	ENST00000397147	NM_013416.3	257	Tgg/Cgg	0	not done			
HEATR5B		inserm.fr	GRCh37	2	37306323	37306323	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC327T									Valid												ENST00000233099.5:c.278A>G	p.Asp93Gly	p.D93G	ENST00000233099	NM_019024.1	93	gAt/gGt	0	validated		possiblydamaging	
CEP104		inserm.fr	GRCh37	1	3732882	3732882	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1744T																					ENST00000378230.3:c.2624A>G	p.Lys875Arg	p.K875R	ENST00000378230	NM_014704.3	875	aAg/aGg	0	not done		benign	
GRIK3		inserm.fr	GRCh37	1	37337812	37337812	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC197T																					ENST00000373091.3:c.709A>G	p.Met237Val	p.M237V	ENST00000373091	NM_000831.3	237	Atg/Gtg	0	validated		benign	
CACNB1		inserm.fr	GRCh37	17	37342248	37342248	+	intron_variant	Intron	SNP	G	C	C			CHC1183T																					ENST00000394303.3:c.628+501C>G		*210*	ENST00000394303	NM_000723.4			0	not done		synonymous	
NUP98		inserm.fr	GRCh37	11	3744608	3744608	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC796T									Valid												ENST00000324932.7:c.1925A>G	p.Tyr642Cys	p.Y642C	ENST00000324932	NM_139132.3	642	tAt/tGt	0	validated		probablydamaging	
CEBPZ		inserm.fr	GRCh37	2	37458710	37458710	+	start_lost	Translation_Start_Site	SNP	T	C	C			CHC1081T																					ENST00000234170.5:c.1A>G	p.Met1?	p.M1?	ENST00000234170	NM_005760.2	1	Atg/Gtg	0	validated		probablydamaging	
CEP104		inserm.fr	GRCh37	1	3746443	3746443	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1154T																					ENST00000378230.3:c.1955A>G	p.Asp652Gly	p.D652G	ENST00000378230	NM_014704.3	652	gAc/gGc	0	not done		probablydamaging	
ANKRD30A		inserm.fr	GRCh37	10	37506772	37506772	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1209T																					ENST00000361713.1:c.3065T>C	p.Ile1022Thr	p.I1022T	ENST00000361713	NM_052997.2	1022	aTa/aCa	0	not done		benign	
PPP1R16B		inserm.fr	GRCh37	20	37518238	37518238	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC1091T																					ENST00000299824.1:c.251T>C	p.Val84Ala	p.V84A	ENST00000299824	NM_015568.2	84	gTa/gCa	0	validated		damaging	
FBXO10		inserm.fr	GRCh37	9	37541699	37541699	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2200T																					ENST00000432825.2:c.67C>G	p.Leu23Val	p.L23V	ENST00000432825	NM_012166.2	23	Ctg/Gtg	0	not done		probablydamaging	
ITGA9		inserm.fr	GRCh37	3	37544755	37544755	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2128T																					ENST00000264741.5:c.699A>C	p.Lys233Asn	p.K233N	ENST00000264741	NM_002207.2	233	aaA/aaC	0	not done		benign	
MED1		inserm.fr	GRCh37	17	37564163	37564163	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2206T																					ENST00000300651.6:c.4311T>G	p.Ser1437Arg	p.S1437R	ENST00000300651	NM_004774.3	1437	agT/agG	0	not done		probablydamaging	
SUPT20H		inserm.fr	GRCh37	13	37596212	37596212	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC303T									Valid												ENST00000350612.6:c.1597A>G	p.Thr533Ala	p.T533A	ENST00000350612	NM_001014286.2	533	Acg/Gcg	0	validated		benign	
APBA3		inserm.fr	GRCh37	19	3759702	3759702	+	synonymous_variant	Silent	SNP	T	C	C			CHC059T																					ENST00000316757.3:c.561A>G	p.Pro187=	p.P187=	ENST00000316757	NM_004886.3	187	ccA/ccG	0	validated		synonymous	
ERLIN2		inserm.fr	GRCh37	8	37601911	37601911	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1741T																					ENST00000276461.5:c.275T>C	p.Val92Ala	p.V92A	ENST00000276461	NM_007175.6	92	gTg/gCg	0	not done		probablydamaging	
ZNF420		inserm.fr	GRCh37	19	37618107	37618107	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1209T																					ENST00000337995.3:c.214A>C	p.Met72Leu	p.M72L	ENST00000337995	NM_144689.3	72	Atg/Ctg	0	not done		benign	
CDK12		inserm.fr	GRCh37	17	37687052	37687052	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2208T																					ENST00000447079.4:c.3956A>C	p.Glu1319Ala	p.E1319A	ENST00000447079	NM_015083.1	1319	gAg/gCg	0	not done		probablydamaging	
DYNLT3		inserm.fr	GRCh37	X	37706763	37706763	+	start_lost	Translation_Start_Site	SNP	T	C	C			BCM769T																					ENST00000378578.4:c.1A>G	p.Met1?	p.M1?	ENST00000378578	NM_006520.2	1	Atg/Gtg	0	validated		probablydamaging	
RAB11FIP1		inserm.fr	GRCh37	8	37729121	37729121	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1604T																					ENST00000330843.4:c.3199C>G	p.Pro1067Ala	p.P1067A	ENST00000330843	NM_001002814.2	1067	Cca/Gca	0	not done		possiblydamaging	
STARD3		inserm.fr	GRCh37	17	37815304	37815304	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC1737T																					ENST00000336308.5:c.647G>C	p.Gly216Ala	p.G216A	ENST00000336308	NM_006804.3	216	gGg/gCg	0	validated		damaging	
NUP98		inserm.fr	GRCh37	11	3781801	3781801	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1915T									Valid												ENST00000324932.7:c.1142C>G	p.Pro381Arg	p.P381R	ENST00000324932	NM_139132.3	381	cCt/cGt	0	validated		probablydamaging	
CAMKK1		inserm.fr	GRCh37	17	3785571	3785571	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC303T																					ENST00000158166.5:c.779C>G	p.Ser260Cys	p.S260C	ENST00000158166	NM_172207.2	260	tCc/tGc	0	validated			
MIEN1		inserm.fr	GRCh37	17	37885939	37885939	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC896T																					ENST00000394231.3:c.263A>G	p.Asp88Gly	p.D88G	ENST00000394231		88	gAt/gGt	0	not done		probablydamaging	
CREBBP		inserm.fr	GRCh37	16	3789702	3789702	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC304T																					ENST00000262367.5:c.4157C>G	p.Ser1386Cys	p.S1386C	ENST00000262367	NM_004380.2	1386	tCt/tGt	0	validated		probablydamaging	
NME8		inserm.fr	GRCh37	7	37936604	37936604	+	synonymous_variant	Silent	SNP	T	C	C			BCM711T																					ENST00000199447.4:c.1677T>C	p.Ser559=	p.S559=	ENST00000199447	NM_016616.4	559	agT/agC	0	validated		synonymous	
SYTL5		inserm.fr	GRCh37	X	37965993	37965993	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM739T																					ENST00000456733.2:c.1369A>C	p.Ile457Leu	p.I457L	ENST00000456733	NM_001163334.1	457	Ata/Cta	0	validated		benign	
ZNF793		inserm.fr	GRCh37	19	38028004	38028004	+	synonymous_variant	Silent	SNP	T	C	C			CHC2098T																					ENST00000445217.1:c.444T>C	p.His148=	p.H148=	ENST00000445217		148	caT/caC	0	not done		synonymous	
SH3BP1		inserm.fr	GRCh37	22	38039651	38039651	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC1712T																					ENST00000357436.4:c.474G>C	p.Arg158Ser	p.R158S	ENST00000357436	NM_018957.3	158	agG/agC	0	not done		damaging	
SH3BP1		inserm.fr	GRCh37	22	38046624	38046624	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC614T																					ENST00000357436.4:c.1490A>C	p.Glu497Ala	p.E497A	ENST00000357436	NM_018957.3	497	gAg/gCg	0	validated		possiblydamaging	
ZNF248		inserm.fr	GRCh37	10	38120724	38120724	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1741T																					ENST00000395867.3:c.1559A>G	p.Tyr520Cys	p.Y520C	ENST00000395867	NM_001267606.1	520	tAt/tGt	0	not done		probablydamaging	
RPGR		inserm.fr	GRCh37	X	38134369	38134369	+	intron_variant	Intron	SNP	T	C	C			BCM617T																					ENST00000465127.1:c.172-391006T>C		*58*	ENST00000465127				0	validated			
TBC1D1		inserm.fr	GRCh37	4	38134802	38134802	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1594T																					ENST00000261439.4:c.3230A>C	p.Asn1077Thr	p.N1077T	ENST00000261439	NM_015173.3	1077	aAc/aCc	0	not done		benign	
RPGR		inserm.fr	GRCh37	X	38178239	38178239	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	C	C			CHC304T									Valid												ENST00000378505.2:c.312A>G	p.Glu104=	p.E104=	ENST00000378505	NM_001034853.1	104	gaA/gaG	0	validated		possiblydamaging	
OXSR1		inserm.fr	GRCh37	3	38207378	38207378	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM399T																					ENST00000311806.3:c.11A>C	p.Asp4Ala	p.D4A	ENST00000311806	NM_005109.2	4	gAc/gCc	0	validated		benign	
GALR3		inserm.fr	GRCh37	22	38219640	38219640	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1041T									Valid												ENST00000249041.2:c.227T>C	p.Val76Ala	p.V76A	ENST00000249041	NM_003614.1	76	gTg/gCg	0	validated		probablydamaging	
EPHA10		inserm.fr	GRCh37	1	38227068	38227068	+	intron_variant	Intron	SNP	A	C	C			CHC898T																					ENST00000373048.4:c.850+9T>G		*284*	ENST00000373048	NM_001099439.1			0	not done			
ZNF25		inserm.fr	GRCh37	10	38241986	38241986	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1725T																					ENST00000302609.7:c.440A>G	p.Asp147Gly	p.D147G	ENST00000302609	NM_145011.2	147	gAc/gGc	0	not done		benign	
ZFR2		inserm.fr	GRCh37	19	3827599	3827599	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC923T																					ENST00000262961.4:c.905A>G	p.Gln302Arg	p.Q302R	ENST00000262961	NM_015174.1	302	cAg/cGg	0	not done		possiblydamaging	
CASC3		inserm.fr	GRCh37	17	38297845	38297845	+	synonymous_variant	Silent	SNP	T	C	C			CHC736T																					ENST00000264645.7:c.282T>C	p.Ser94=	p.S94=	ENST00000264645	NM_007359.4	94	agT/agC	0	validated		synonymous	
WDR87		inserm.fr	GRCh37	19	38376087	38376087	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM695T																					ENST00000303868.5:c.8107T>G	p.Phe2703Val	p.F2703V	ENST00000303868	NM_031951.3	2703	Ttt/Gtt	0	validated		probablydamaging	
WDR87		inserm.fr	GRCh37	19	38382325	38382325	+	synonymous_variant	Silent	SNP	A	C	C			CHC361TA																					ENST00000303868.5:c.3144T>G	p.Ala1048=	p.A1048=	ENST00000303868	NM_031951.3	1048	gcT/gcG	0	validated		synonymous	
EGFLAM		inserm.fr	GRCh37	5	38418306	38418306	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1720T																					ENST00000354891.3:c.1633A>C	p.Ile545Leu	p.I545L	ENST00000354891	NM_001205301.1	545	Att/Ctt	0	not done		benign	
SLC16A8		inserm.fr	GRCh37	22	38474507	38474507	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1183T																					ENST00000320521.5:c.1403T>G	p.Val468Gly	p.V468G	ENST00000320521	NM_013356.2	468	gTt/gGt	0	not done		benign	
LIFR		inserm.fr	GRCh37	5	38502864	38502864	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC798T									Valid												ENST00000263409.4:c.1475A>G	p.Tyr492Cys	p.Y492C	ENST00000263409	NM_002310.5	492	tAt/tGt	0	validated		probablydamaging	
TTC3		inserm.fr	GRCh37	21	38536415	38536415	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1052T																					ENST00000399017.2:c.3233A>C	p.Glu1078Ala	p.E1078A	ENST00000399017	NM_003316.3	1078	gAa/gCa	0	validated		probablydamaging	
TNS4		inserm.fr	GRCh37	17	38652629	38652629	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1712T																					ENST00000254051.6:c.49A>G	p.Ser17Gly	p.S17G	ENST00000254051	NM_032865.5	17	Agc/Ggc	0	not done		benign	
FAM183B		inserm.fr	GRCh37	7	38725274	38725274	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1775T																					ENST00000409072.3:c.332A>G	p.His111Arg	p.H111R	ENST00000409072		111	cAc/cGc	0	validated			
DNAH8		inserm.fr	GRCh37	6	38749035	38749035	+	synonymous_variant	Silent	SNP	T	C	C			CHC805T																					ENST00000359357.3:c.1494T>C	p.Tyr498=	p.Y498=	ENST00000359357		498	taT/taC	0	not done		synonymous	
TLR1		inserm.fr	GRCh37	4	38798642	38798642	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1629T																					ENST00000308979.2:c.1811T>G	p.Leu604Trp	p.L604W	ENST00000308979	NM_003263.3	604	tTg/tGg	0	not done		probablydamaging	
KCNJ4		inserm.fr	GRCh37	22	38823630	38823630	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2113T																					ENST00000303592.3:c.508A>G	p.Thr170Ala	p.T170A	ENST00000303592	NM_152868.2	170	Acc/Gcc	0	not done		benign	
TLR6		inserm.fr	GRCh37	4	38829133	38829133	+	synonymous_variant	Silent	SNP	G	C	C			CHC155T																					ENST00000436693.2:c.1962C>G	p.Ala654=	p.A654=	ENST00000436693	NM_006068.4	654	gcC/gcG	0	validated		synonymous	
TLR6		inserm.fr	GRCh37	4	38830454	38830454	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1592T																					ENST00000436693.2:c.641A>G	p.Asn214Ser	p.N214S	ENST00000436693	NM_006068.4	214	aAc/aGc	0	not done		benign	
ADAM9		inserm.fr	GRCh37	8	38874932	38874932	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC2099T																					ENST00000487273.2:c.605G>C	p.Arg202Pro	p.R202P	ENST00000487273	NM_003816.2	202	cGa/cCa	0	not done		probablydamaging	
KRT25		inserm.fr	GRCh37	17	38911264	38911264	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1708T																					ENST00000312150.4:c.260A>G	p.Asn87Ser	p.N87S	ENST00000312150	NM_181534.3	87	aAt/aGt	0	not done		probablydamaging	
KRT28		inserm.fr	GRCh37	17	38948680	38948680	+	stop_lost	Nonstop_Mutation	SNP	T	C	C			CHC1616T																					ENST00000306658.7:c.1394A>G	p.Ter465TrpextTer4	p.*465Wext*4	ENST00000306658	NM_181535.3	465	tAg/tGg	0	not done			
KRT28		inserm.fr	GRCh37	17	38954496	38954496	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM275T									Valid												ENST00000306658.7:c.681C>G	p.Asn227Lys	p.N227K	ENST00000306658	NM_181535.3	227	aaC/aaG	0	validated		probablydamaging	
C15orf53		inserm.fr	GRCh37	15	38990622	38990622	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC197T																					ENST00000318792.1:c.416T>C	p.Leu139Pro	p.L139P	ENST00000318792	NM_207444.2	139	cTg/cCg	0	validated		benign	
KRT20		inserm.fr	GRCh37	17	39036128	39036128	+	synonymous_variant	Silent	SNP	T	C	C			CHC1065T																					ENST00000167588.3:c.855A>G	p.Gln285=	p.Q285=	ENST00000167588	NM_019010.2	285	caA/caG	0	validated		synonymous	
DHX57		inserm.fr	GRCh37	2	39085968	39085968	+	synonymous_variant	Silent	SNP	T	C	C			CHC736T																					ENST00000295373.6:c.1422A>G	p.Ala474=	p.A474=	ENST00000295373	NM_198963.1	474	gcA/gcG	0	validated		synonymous	
NPTXR		inserm.fr	GRCh37	22	39224502	39224502	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1040T																					ENST00000333039.2:c.640C>G	p.Arg214Gly	p.R214G	ENST00000333039	NM_014293.3	214	Cgt/Ggt	0	not done		probablydamaging	
XIRP1		inserm.fr	GRCh37	3	39230092	39230092	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1186T																					ENST00000340369.3:c.845A>G	p.Asn282Ser	p.N282S	ENST00000340369	NM_194293.2	282	aAc/aGc	0	not done		probablydamaging	
ZZEF1		inserm.fr	GRCh37	17	3926047	3926047	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM371T																					ENST00000381638.2:c.7168A>G	p.Lys2390Glu	p.K2390E	ENST00000381638	NM_015113.3	2390	Aaa/Gaa	0	validated		possiblydamaging	
FREM2		inserm.fr	GRCh37	13	39263115	39263115	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM723T																					ENST00000280481.7:c.1634T>C	p.Val545Ala	p.V545A	ENST00000280481	NM_207361.4	545	gTa/gCa	0	validated		probablydamaging	
FREM2		inserm.fr	GRCh37	13	39264666	39264666	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1531T																					ENST00000280481.7:c.3185T>C	p.Val1062Ala	p.V1062A	ENST00000280481	NM_207361.4	1062	gTt/gCt	0	not done		possiblydamaging	
KCNK17		inserm.fr	GRCh37	6	39267420	39267420	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM695T																					ENST00000373231.4:c.782A>G	p.Lys261Arg	p.K261R	ENST00000373231	NM_031460.3	261	aAa/aGa	0	validated		possiblydamaging	
KRTAP4-11		inserm.fr	GRCh37	17	39274006	39274006	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM423T																					ENST00000391413.2:c.562T>G	p.Leu188Val	p.L188V	ENST00000391413	NM_033059.3	188	Ttg/Gtg	0	validated		benign	
SOS1		inserm.fr	GRCh37	2	39294810	39294810	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1715T																					ENST00000402219.2:c.172A>G	p.Met58Val	p.M58V	ENST00000402219	NM_005633.3	58	Atg/Gtg	0	not done		possiblydamaging	
RFC1		inserm.fr	GRCh37	4	39304157	39304157	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1207T																					ENST00000381897.1:c.2402A>G	p.Asn801Ser	p.N801S	ENST00000381897	NM_002913.4	801	aAt/aGt	0	not done		possiblydamaging	
HNRNPL		inserm.fr	GRCh37	19	39336324	39336324	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1601T																					ENST00000221419.5:c.676A>G	p.Ile226Val	p.I226V	ENST00000221419	NM_001533.2	226	Att/Gtt	0	not done		possiblydamaging	
FREM2		inserm.fr	GRCh37	13	39343741	39343741	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1745T																					ENST00000280481.7:c.5437G>C	p.Glu1813Gln	p.E1813Q	ENST00000280481	NM_207361.4	1813	Gaa/Caa	0	not done		benign	
KRTAP9-3		inserm.fr	GRCh37	17	39389199	39389199	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1604T																					ENST00000411528.2:c.446G>C	p.Cys149Ser	p.C149S	ENST00000411528	NM_031962.2	149	tGt/tCt	0	not done			
NMRK2		inserm.fr	GRCh37	19	3941167	3941167	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1751T																					ENST00000168977.2:c.494T>C	p.Val165Ala	p.V165A	ENST00000168977	NM_170678.2	165	gTg/gCg	0	not done		possiblydamaging	
LIAS		inserm.fr	GRCh37	4	39466772	39466772	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM257T																					ENST00000261434.3:c.500T>C	p.Ile167Thr	p.I167T	ENST00000261434	NM_006859.3	167	aTt/aCt	0	validated		probablydamaging	
POU6F2		inserm.fr	GRCh37	7	39472709	39472709	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1065T																					ENST00000403058.1:c.1060G>C	p.Gly354Arg	p.G354R	ENST00000403058	NM_001166018.1	354	Ggg/Cgg	0	validated		possiblydamaging	
UGDH		inserm.fr	GRCh37	4	39510184	39510184	+	splice_donor_variant	Splice_Site	SNP	A	C	C			CHC1594T																					ENST00000316423.6:c.906+2T>G		p.X302_splice	ENST00000316423	NM_001184701.1			0	not done		damaging	
KRT31		inserm.fr	GRCh37	17	39550362	39550362	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM275T																					ENST00000251645.2:c.1157T>G	p.Leu386Arg	p.L386R	ENST00000251645	NM_002277.2	386	cTc/cGc	0	validated		benign	
PROSER1		inserm.fr	GRCh37	13	39596486	39596486	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC320T																					ENST00000352251.3:c.707A>G	p.Tyr236Cys	p.Y236C	ENST00000352251	NM_025138.4	236	tAt/tGt	0	validated		probablydamaging	
ADAM2		inserm.fr	GRCh37	8	39604009	39604009	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2029T																					ENST00000265708.4:c.2156A>G	p.Glu719Gly	p.E719G	ENST00000265708	NM_001464.4	719	gAg/gGg	0	not done		probablydamaging	
KRT35		inserm.fr	GRCh37	17	39635154	39635154	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2034T																					ENST00000393989.1:c.805A>G	p.Met269Val	p.M269V	ENST00000393989	NM_002280.4	269	Atg/Gtg	0	not done		probablydamaging	
PNN		inserm.fr	GRCh37	14	39646855	39646855	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1201T																					ENST00000216832.4:c.386T>C	p.Ile129Thr	p.I129T	ENST00000216832	NM_002687.3	129	aTc/aCc	0	not done		possiblydamaging	
PNN		inserm.fr	GRCh37	14	39646872	39646872	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM769T									Valid												ENST00000216832.4:c.403G>C	p.Asp135His	p.D135H	ENST00000216832	NM_002687.3	135	Gat/Cat	0	validated		probablydamaging	
DAAM2		inserm.fr	GRCh37	6	39869788	39869788	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1148T																					ENST00000398904.2:c.3182G>C	p.Arg1061Pro	p.R1061P	ENST00000398904		1061	cGg/cCg	0	not done		probablydamaging	
PAF1		inserm.fr	GRCh37	19	39876633	39876633	+	stop_lost	Nonstop_Mutation	SNP	A	C	C			CHC1182T																					ENST00000221265.3:c.1594T>G	p.Ter532GlyextTer14	p.*532Gext*14	ENST00000221265	NM_019088.3	532	Tga/Gga	0	not done		synonymous	
THBS1		inserm.fr	GRCh37	15	39884923	39884923	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCB301T																					ENST00000260356.5:c.2687A>C	p.His896Pro	p.H896P	ENST00000260356	NM_003246.2	896	cAc/cCc	0	validated		probablydamaging	
HAP1		inserm.fr	GRCh37	17	39890535	39890535	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM723T																					ENST00000347901.4:c.352A>G	p.Thr118Ala	p.T118A	ENST00000347901	NM_177977.2	118	Act/Gct	0	validated		benign	
PDS5A		inserm.fr	GRCh37	4	39900126	39900126	+	synonymous_variant	Silent	SNP	T	C	C			CHC1207T																					ENST00000303538.8:c.1653A>G	p.Lys551=	p.K551=	ENST00000303538	NM_001100399.1	551	aaA/aaG	0	not done		synonymous	
JUP		inserm.fr	GRCh37	17	39912076	39912076	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1741T																					ENST00000393931.3:c.2158A>G	p.Met720Val	p.M720V	ENST00000393931	NM_002230.2	720	Atg/Gtg	0	not done		benign	
SDK1		inserm.fr	GRCh37	7	3991489	3991489	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC884T									Valid												ENST00000404826.2:c.1087G>C	p.Glu363Gln	p.E363Q	ENST00000404826	NM_152744.3	363	Gag/Cag	0	validated		probablydamaging	
LHFP		inserm.fr	GRCh37	13	39952632	39952632	+	stop_gained	Nonsense_Mutation	SNP	G	C	C			CHC1065T									Valid												ENST00000379589.3:c.417C>G	p.Tyr139Ter	p.Y139*	ENST00000379589	NM_005780.2	139	taC/taG	0	validated		damaging	
PABPC4		inserm.fr	GRCh37	1	40031047	40031047	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC306T									Valid												ENST00000372858.3:c.976A>G	p.Met326Val	p.M326V	ENST00000372858	NM_001135653.1	326	Atg/Gtg	0	validated		probablydamaging	
PABPC4		inserm.fr	GRCh37	1	40038238	40038238	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC736T																					ENST00000372858.3:c.214A>G	p.Met72Val	p.M72V	ENST00000372858	NM_001135653.1	72	Atg/Gtg	0	validated		probablydamaging	
SDK1		inserm.fr	GRCh37	7	4007019	4007019	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1148T																					ENST00000404826.2:c.1499G>C	p.Arg500Thr	p.R500T	ENST00000404826	NM_152744.3	500	aGg/aCg	0	not done		benign	
GPR176		inserm.fr	GRCh37	15	40094446	40094446	+	synonymous_variant	Silent	SNP	T	C	C			CHC798T																					ENST00000561100.1:c.435A>G	p.Ser145=	p.S145=	ENST00000561100	NM_007223.2	145	tcA/tcG	0	validated		synonymous	
CDK13		inserm.fr	GRCh37	7	40102656	40102656	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2215T																					ENST00000181839.4:c.2737A>C	p.Ile913Leu	p.I913L	ENST00000181839	NM_031267.3	913	Ata/Cta	0	not done		benign	
N4BP2		inserm.fr	GRCh37	4	40123919	40123919	+	synonymous_variant	Silent	SNP	T	C	C			CHC796T																					ENST00000261435.6:c.4188T>C	p.Gly1396=	p.G1396=	ENST00000261435	NM_018177.4	1396	ggT/ggC	0	validated		synonymous	
DNAJC7		inserm.fr	GRCh37	17	40152559	40152559	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1044T																					ENST00000457167.4:c.107A>G	p.Asn36Ser	p.N36S	ENST00000457167	NM_003315.3	36	aAt/aGt	0	not done		probablydamaging	
COG6		inserm.fr	GRCh37	13	40229986	40229986	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1763T																					ENST00000455146.3:c.123G>C	p.Lys41Asn	p.K41N	ENST00000455146	NM_020751.2	41	aaG/aaC	0	not done		probablydamaging	
COG6		inserm.fr	GRCh37	13	40233578	40233578	+	synonymous_variant	Silent	SNP	A	C	C			CHC1594T																					ENST00000455146.3:c.231A>C	p.Gly77=	p.G77=	ENST00000455146	NM_020751.2	77	ggA/ggC	0	not done		synonymous	
DYRK1B		inserm.fr	GRCh37	19	40318981	40318981	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC961T																					ENST00000593685.1:c.763A>G	p.Ile255Val	p.I255V	ENST00000593685		255	Atc/Gtc	0	validated		possiblydamaging	
FCGBP		inserm.fr	GRCh37	19	40377082	40377082	+	synonymous_variant	Silent	SNP	G	C	C			CHC1052T																					ENST00000221347.6:c.11340C>G	p.Val3780=	p.V3780=	ENST00000221347	NM_003890.2	3780	gtC/gtG	0	validated		synonymous	
SLC2A13		inserm.fr	GRCh37	12	40422184	40422184	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1611T																					ENST00000280871.4:c.844A>G	p.Met282Val	p.M282V	ENST00000280871	NM_052885.3	282	Atg/Gtg	0	not done		benign	
RBM47		inserm.fr	GRCh37	4	40428151	40428151	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC197T									Valid												ENST00000381793.2:c.1552A>G	p.Ile518Val	p.I518V	ENST00000381793		518	Ata/Gta	0	validated		possiblydamaging	
BRWD1		inserm.fr	GRCh37	21	40571534	40571534	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC301T									Valid												ENST00000333229.2:c.4808A>G	p.Tyr1603Cys	p.Y1603C	ENST00000333229	NM_018963.4	1603	tAt/tGt	0	validated		probablydamaging	
ANKRD63		inserm.fr	GRCh37	15	40574774	40574774	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1028T																					ENST00000434396.1:c.14A>G	p.Lys5Arg	p.K5R	ENST00000434396	NM_001190479.1	5	aAg/aGg	0	not done			
LRRK2		inserm.fr	GRCh37	12	40626100	40626100	+	synonymous_variant	Silent	SNP	T	C	C			CHC301T																					ENST00000298910.7:c.262T>C	p.Leu88=	p.L88=	ENST00000298910	NM_198578.3	88	Tta/Cta	0	validated		synonymous	
LRRK2		inserm.fr	GRCh37	12	40626154	40626154	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM783T																					ENST00000298910.7:c.316G>C	p.Gly106Arg	p.G106R	ENST00000298910	NM_198578.3	106	Gga/Cga	0	validated		possiblydamaging	
SLC8A1		inserm.fr	GRCh37	2	40655722	40655722	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1028T																					ENST00000403092.1:c.1699C>G	p.Arg567Gly	p.R567G	ENST00000403092		567	Cga/Gga	0	not done		probablydamaging	
IVD		inserm.fr	GRCh37	15	40707638	40707638	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB157T																					ENST00000487418.2:c.926T>C	p.Leu309Pro	p.L309P	ENST00000487418		309	cTg/cCg	0	validated		probablydamaging	
MLX		inserm.fr	GRCh37	17	40721302	40721302	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1600T																					ENST00000246912.4:c.519A>C	p.Lys173Asn	p.K173N	ENST00000246912	NM_170607.2	173	aaA/aaC	0	not done		possiblydamaging	
PTPRT		inserm.fr	GRCh37	20	40747128	40747128	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC429T									Valid												ENST00000373198.4:c.2954A>G	p.Glu985Gly	p.E985G	ENST00000373198	NM_133170.3	985	gAg/gGg	0	not done		probablydamaging	
ZNF658		inserm.fr	GRCh37	9	40773947	40773947	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1040T																					ENST00000602553.1:c.1328A>G	p.Asn443Ser	p.N443S	ENST00000602553		443	aAt/aGt	0	validated		possiblydamaging	
NSUN7		inserm.fr	GRCh37	4	40796450	40796450	+	synonymous_variant	Silent	SNP	T	C	C			CHC2358T																					ENST00000381782.2:c.1239T>C	p.Val413=	p.V413=	ENST00000381782	NM_024677.4	413	gtT/gtC	0	validated		synonymous	
SGSM3		inserm.fr	GRCh37	22	40803534	40803534	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2113T																					ENST00000248929.9:c.1486G>C	p.Asp496His	p.D496H	ENST00000248929	NM_015705.4	496	Gac/Cac	0	not done		probablydamaging	
SYT4		inserm.fr	GRCh37	18	40853584	40853584	+	synonymous_variant	Silent	SNP	T	C	C			CHC2052T																					ENST00000255224.3:c.810A>G	p.Lys270=	p.K270=	ENST00000255224	NM_020783.3	270	aaA/aaG	0	not done		synonymous	
CASC5		inserm.fr	GRCh37	15	40917627	40917627	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM723T																					ENST00000346991.5:c.5243A>C	p.Glu1748Ala	p.E1748A	ENST00000346991		1748	gAg/gCg	0	validated		probablydamaging	
ANKFY1		inserm.fr	GRCh37	17	4092684	4092684	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1714T																					ENST00000570535.1:c.1589A>G	p.Asn530Ser	p.N530S	ENST00000570535	NM_001257999.1	530	aAc/aGc	0	not done		probablydamaging	
SERTAD3		inserm.fr	GRCh37	19	40947555	40947555	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM567T																					ENST00000322354.3:c.433T>G	p.Ser145Ala	p.S145A	ENST00000322354	NM_203344.2	145	Tct/Gct	0	validated		benign	
SERTAD3		inserm.fr	GRCh37	19	40947698	40947698	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1725T																					ENST00000322354.3:c.290C>G	p.Ser97Cys	p.S97C	ENST00000322354	NM_203344.2	97	tCt/tGt	0	not done		probablydamaging	
CASC5		inserm.fr	GRCh37	15	40949269	40949269	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM543T																					ENST00000346991.5:c.6592G>C	p.Val2198Leu	p.V2198L	ENST00000346991		2198	Gtt/Ctt	0	validated		probablydamaging	
UNC5CL		inserm.fr	GRCh37	6	41000632	41000632	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1568T																					ENST00000244565.3:c.940A>G	p.Ile314Val	p.I314V	ENST00000244565	NM_173561.2	314	Atc/Gtc	0	not done		benign	
APBB2		inserm.fr	GRCh37	4	41016051	41016051	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1736T																					ENST00000508593.1:c.384C>G	p.Ile128Met	p.I128M	ENST00000508593		128	atC/atG	0	not done		benign	
MROH2B		inserm.fr	GRCh37	5	41048560	41048560	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM371T																					ENST00000399564.4:c.1550C>G	p.Ser517Cys	p.S517C	ENST00000399564	NM_173489.4	517	tCt/tGt	0	validated		probablydamaging	
SPTBN4		inserm.fr	GRCh37	19	41074117	41074117	+	synonymous_variant	Silent	SNP	G	C	C			CHC1595T																					ENST00000352632.3:c.6885G>C	p.Arg2295=	p.R2295=	ENST00000352632		2295	cgG/cgC	0	validated		synonymous	
ZFYVE19		inserm.fr	GRCh37	15	41102940	41102940	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2216T																					ENST00000355341.4:c.811A>C	p.Lys271Gln	p.K271Q	ENST00000355341	NM_001077268.1	271	Aaa/Caa	0	not done		benign	
ECI2		inserm.fr	GRCh37	6	4117638	4117638	+	synonymous_variant	Silent	SNP	T	C	C			BCB111T																					ENST00000380118.3:c.933A>G	p.Ala311=	p.A311=	ENST00000380118		311	gcA/gcG	0	validated		synonymous	
FOXO1		inserm.fr	GRCh37	13	41240285	41240285	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1745T																					ENST00000379561.5:c.65C>G	p.Ser22Trp	p.S22W	ENST00000379561	NM_002015.3	22	tCg/tGg	0	not done		probablydamaging	
BRCA1		inserm.fr	GRCh37	17	41242991	41242991	+	synonymous_variant	Silent	SNP	T	C	C			CHC469T																					ENST00000357654.3:c.4155A>G	p.Leu1385=	p.L1385=	ENST00000357654	NM_007294.3	1385	ctA/ctG	0	validated		synonymous	
CTNNB1		inserm.fr	GRCh37	3	41266097	41266097	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1154T									Valid												ENST00000349496.5:c.94G>C	p.Asp32His	p.D32H	ENST00000349496	NM_001904.3	32	Gac/Cac	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266097	41266097	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1715T									Valid												ENST00000349496.5:c.94G>C	p.Asp32His	p.D32H	ENST00000349496	NM_001904.3	32	Gac/Cac	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1152T									Valid												ENST00000349496.5:c.95A>C	p.Asp32Ala	p.D32A	ENST00000349496	NM_001904.3	32	gAc/gCc	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266100	41266100	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC051T									Valid												ENST00000349496.5:c.97T>C	p.Ser33Pro	p.S33P	ENST00000349496	NM_001904.3	33	Tct/Cct	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266110	41266110	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1566T									Valid												ENST00000349496.5:c.107A>C	p.His36Pro	p.H36P	ENST00000349496	NM_001904.3	36	cAt/cCt	0	not done		possiblydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266110	41266110	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2098T									Valid												ENST00000349496.5:c.107A>C	p.His36Pro	p.H36P	ENST00000349496	NM_001904.3	36	cAt/cCt	0	not done		possiblydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266110	41266110	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T									Valid												ENST00000349496.5:c.107A>C	p.His36Pro	p.H36P	ENST00000349496	NM_001904.3	36	cAt/cCt	0	validated		possiblydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266110	41266110	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1915T									Valid												ENST00000349496.5:c.107A>C	p.His36Pro	p.H36P	ENST00000349496	NM_001904.3	36	cAt/cCt	0	validated		possiblydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266110	41266110	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC801T									Valid												ENST00000349496.5:c.107A>C	p.His36Pro	p.H36P	ENST00000349496	NM_001904.3	36	cAt/cCt	0	not done		possiblydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266112	41266112	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1598T									Valid												ENST00000349496.5:c.109T>C	p.Ser37Pro	p.S37P	ENST00000349496	NM_001904.3	37	Tct/Cct	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266136	41266136	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC097T									Valid												ENST00000349496.5:c.133T>C	p.Ser45Pro	p.S45P	ENST00000349496	NM_001904.3	45	Tct/Cct	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266136	41266136	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1040T									Valid												ENST00000349496.5:c.133T>C	p.Ser45Pro	p.S45P	ENST00000349496	NM_001904.3	45	Tct/Cct	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266136	41266136	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1209T									Valid												ENST00000349496.5:c.133T>C	p.Ser45Pro	p.S45P	ENST00000349496	NM_001904.3	45	Tct/Cct	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266136	41266136	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1531T									Valid												ENST00000349496.5:c.133T>C	p.Ser45Pro	p.S45P	ENST00000349496	NM_001904.3	45	Tct/Cct	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266136	41266136	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2099T									Valid												ENST00000349496.5:c.133T>C	p.Ser45Pro	p.S45P	ENST00000349496	NM_001904.3	45	Tct/Cct	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266136	41266136	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2113T									Valid												ENST00000349496.5:c.133T>C	p.Ser45Pro	p.S45P	ENST00000349496	NM_001904.3	45	Tct/Cct	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266136	41266136	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC799T									Valid												ENST00000349496.5:c.133T>C	p.Ser45Pro	p.S45P	ENST00000349496	NM_001904.3	45	Tct/Cct	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266136	41266136	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM695T									Valid												ENST00000349496.5:c.133T>C	p.Ser45Pro	p.S45P	ENST00000349496	NM_001904.3	45	Tct/Cct	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266136	41266136	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2052T									Valid												ENST00000349496.5:c.133T>C	p.Ser45Pro	p.S45P	ENST00000349496	NM_001904.3	45	Tct/Cct	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266209	41266209	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC432T									Valid												ENST00000349496.5:c.206G>C	p.Gly69Ala	p.G69A	ENST00000349496	NM_001904.3	69	gGa/gCa	0	not done		benign	
CTNNB1		inserm.fr	GRCh37	3	41268766	41268766	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2029T									Valid												ENST00000349496.5:c.1004A>C	p.Lys335Thr	p.K335T	ENST00000349496	NM_001904.3	335	aAa/aCa	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41268766	41268766	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2200T									Valid												ENST00000349496.5:c.1004A>C	p.Lys335Thr	p.K335T	ENST00000349496	NM_001904.3	335	aAa/aCa	0	not done		probablydamaging	
XPNPEP3		inserm.fr	GRCh37	22	41278082	41278082	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCB109T									Valid												ENST00000357137.4:c.490G>C	p.Asp164His	p.D164H	ENST00000357137	NM_022098.3	164	Gat/Cat	0	validated		probablydamaging	
PTPRT		inserm.fr	GRCh37	20	41306605	41306605	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1035T									Valid												ENST00000373198.4:c.1054C>G	p.Pro352Ala	p.P352A	ENST00000373198	NM_133170.3	352	Ccc/Gcc	0	validated		probablydamaging	
ELF1		inserm.fr	GRCh37	13	41507889	41507889	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC051T																					ENST00000239882.3:c.1532A>G	p.Asn511Ser	p.N511S	ENST00000239882	NM_172373.3	511	aAt/aGt	0	validated		benign	
CYP2F1		inserm.fr	GRCh37	19	41622095	41622095	+	start_lost	Translation_Start_Site	SNP	T	C	C			BCM483T																					ENST00000331105.2:c.2T>C	p.Met1?	p.M1?	ENST00000331105	NM_000774.3	1	aTg/aCg	0	validated		probablydamaging	
L3MBTL2		inserm.fr	GRCh37	22	41622722	41622722	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1044T																					ENST00000216237.5:c.1561G>C	p.Ala521Pro	p.A521P	ENST00000216237	NM_031488.4	521	Gcc/Ccc	0	not done		benign	
CYP2F1		inserm.fr	GRCh37	19	41628015	41628015	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC197T									Valid												ENST00000331105.2:c.799T>C	p.Cys267Arg	p.C267R	ENST00000331105	NM_000774.3	267	Tgc/Cgc	0	validated		possiblydamaging	
CHADL		inserm.fr	GRCh37	22	41631289	41631289	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1566T																					ENST00000216241.9:c.2122C>G	p.Arg708Gly	p.R708G	ENST00000216241	NM_138481.1	708	Cgt/Ggt	0	validated		possiblydamaging	
ADCY9		inserm.fr	GRCh37	16	4165296	4165296	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM545T																					ENST00000294016.3:c.148A>G	p.Ile50Val	p.I50V	ENST00000294016	NM_001116.3	50	Atc/Gtc	0	validated		probablydamaging	
LIMCH1		inserm.fr	GRCh37	4	41682029	41682029	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM501T																					ENST00000313860.7:c.2374T>C	p.Tyr792His	p.Y792H	ENST00000313860	NM_014988.2	792	Tac/Cac	0	validated		probablydamaging	
DSCAM		inserm.fr	GRCh37	21	41684178	41684178	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1591T																					ENST00000400454.1:c.1892A>G	p.Gln631Arg	p.Q631R	ENST00000400454	NM_001271534.1	631	cAg/cGg	0	not done		possiblydamaging	
CYP2S1		inserm.fr	GRCh37	19	41703690	41703690	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1185T																					ENST00000310054.4:c.350T>C	p.Phe117Ser	p.F117S	ENST00000310054	NM_030622.6	117	tTc/tCc	0	not done		benign	
KBTBD6		inserm.fr	GRCh37	13	41705355	41705355	+	synonymous_variant	Silent	SNP	T	C	C			CHC1148T																					ENST00000379485.1:c.1293A>G	p.Ala431=	p.A431=	ENST00000379485	NM_152903.4	431	gcA/gcG	0	not done		synonymous	
PRICKLE4		inserm.fr	GRCh37	6	41753238	41753238	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T									Valid												ENST00000458694.1:c.542A>C	p.His181Pro	p.H181P	ENST00000458694	NM_013397.5	181	cAt/cCt	0	validated		probablydamaging	
AXL		inserm.fr	GRCh37	19	41763426	41763426	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1915T									Valid												ENST00000301178.4:c.2225T>C	p.Ile742Thr	p.I742T	ENST00000301178	NM_021913.4	742	aTt/aCt	0	validated		probablydamaging	
USP49		inserm.fr	GRCh37	6	41773455	41773455	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1754T																					ENST00000373006.1:c.1267C>G	p.Arg423Gly	p.R423G	ENST00000373006	NM_018561.3	423	Cgg/Ggg	0	not done		possiblydamaging	
LTK		inserm.fr	GRCh37	15	41805004	41805004	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1205T																					ENST00000263800.6:c.260A>G	p.Asp87Gly	p.D87G	ENST00000263800	NM_002344.5	87	gAc/gGc	0	not done		possiblydamaging	
RIMOC1		inserm.fr	GRCh37	5	41909916	41909916	+	synonymous_variant	Silent	SNP	T	C	C			BCM375T																					ENST00000381647.2:c.276T>C	p.Ser92=	p.S92=	ENST00000381647	NM_175921.4	92	tcT/tcC	0	validated		synonymous	
UBE2G1		inserm.fr	GRCh37	17	4192694	4192694	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1715T																					ENST00000396981.2:c.257A>G	p.Asn86Ser	p.N86S	ENST00000396981	NM_003342.4	86	aAt/aGt	0	not done		benign	
SLC30A9		inserm.fr	GRCh37	4	42003696	42003696	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC451T																					ENST00000264451.7:c.173T>C	p.Ile58Thr	p.I58T	ENST00000264451	NM_006345.3	58	aTt/aCt	0	validated		benign	
C6orf132		inserm.fr	GRCh37	6	42077992	42077992	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC892T																					ENST00000341865.4:c.290C>G	p.Pro97Arg	p.P97R	ENST00000341865	NM_001164446.1	97	cCc/cGc	0	not done			
PLA2G4B		inserm.fr	GRCh37	15	42137414	42137414	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC891T																					ENST00000382448.4:c.1946A>C	p.Lys649Thr	p.K649T	ENST00000382448		649	aAg/aCg	0	not done		benign	
VWA8		inserm.fr	GRCh37	13	42144698	42144698	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC097T																					ENST00000379310.3:c.5515A>G	p.Ile1839Val	p.I1839V	ENST00000379310	NM_015058.1	1839	Ata/Gta	0	not done		possiblydamaging	
HDAC5		inserm.fr	GRCh37	17	42171057	42171057	+	synonymous_variant	Silent	SNP	G	C	C			BCM229T																					ENST00000225983.6:c.243C>G	p.Leu81=	p.L81=	ENST00000225983		81	ctC/ctG	0	validated		synonymous	
ASB16		inserm.fr	GRCh37	17	42248221	42248221	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC121T									Valid												ENST00000293414.1:c.64T>C	p.Trp22Arg	p.W22R	ENST00000293414	NM_080863.4	22	Tgg/Cgg	0	validated		probablydamaging	
TRAK1		inserm.fr	GRCh37	3	42251457	42251457	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB231T																					ENST00000327628.5:c.1943T>C	p.Val648Ala	p.V648A	ENST00000327628	NM_001042646.2	648	gTt/gCt	0	validated		benign	
VWA8		inserm.fr	GRCh37	13	42265552	42265552	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC451T																					ENST00000379310.3:c.3770A>G	p.Glu1257Gly	p.E1257G	ENST00000379310	NM_015058.1	1257	gAa/gGa	0	validated		probablydamaging	
VWA8		inserm.fr	GRCh37	13	42265561	42265561	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC451T																					ENST00000379310.3:c.3761A>G	p.Asp1254Gly	p.D1254G	ENST00000379310	NM_015058.1	1254	gAt/gGt	0	validated		probablydamaging	
VWA8		inserm.fr	GRCh37	13	42273305	42273305	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1603T																					ENST00000379310.3:c.3466A>G	p.Ile1156Val	p.I1156V	ENST00000379310	NM_015058.1	1156	Atc/Gtc	0	not done		benign	
PLA2G4E		inserm.fr	GRCh37	15	42276723	42276723	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB231T																					ENST00000399518.3:c.2297A>G	p.Tyr766Cys	p.Y766C	ENST00000399518	NM_001206670.1	766	tAc/tGc	0	validated		probablydamaging	
VWA8		inserm.fr	GRCh37	13	42277533	42277533	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1044T																					ENST00000379310.3:c.3131A>G	p.Glu1044Gly	p.E1044G	ENST00000379310	NM_015058.1	1044	gAa/gGa	0	not done		benign	
ADRA1D		inserm.fr	GRCh37	20	4229142	4229142	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1028T																					ENST00000379453.4:c.463A>G	p.Thr155Ala	p.T155A	ENST00000379453	NM_000678.3	155	Acc/Gcc	0	not done		possiblydamaging	
UBTF		inserm.fr	GRCh37	17	42293998	42293998	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1616T																					ENST00000302904.4:c.133A>G	p.Lys45Glu	p.K45E	ENST00000302904		45	Aag/Gag	0	not done		possiblydamaging	
SLC4A1		inserm.fr	GRCh37	17	42330597	42330597	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1568T																					ENST00000262418.6:c.2200C>G	p.His734Asp	p.H734D	ENST00000262418	NM_000342.3	734	Cat/Gat	0	not done		probablydamaging	
ATP1A3		inserm.fr	GRCh37	19	42474375	42474375	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC121T									Valid												ENST00000545399.1:c.2543T>G	p.Val848Gly	p.V848G	ENST00000545399	NM_001256214.1	848	gTc/gGc	0	validated		probablydamaging	
GPATCH8		inserm.fr	GRCh37	17	42501814	42501814	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1717T																					ENST00000591680.1:c.395T>G	p.Leu132Arg	p.L132R	ENST00000591680	NM_001002909.2	132	cTc/cGc	0	not done		probablydamaging	
CYP2D7P1		inserm.fr	GRCh37	22	42538748	42538748	+	downstream_gene_variant	3'Flank	SNP	G	C	C			CHC1209T																								ENST00000416037				0	not done		synonymous	
GANC		inserm.fr	GRCh37	15	42618609	42618609	+	synonymous_variant	Silent	SNP	G	C	C			CHC2127T																					ENST00000318010.8:c.1407G>C	p.Gly469=	p.G469=	ENST00000318010	NM_198141.2	469	ggG/ggC	0	not done		synonymous	
GUCA2A		inserm.fr	GRCh37	1	42629199	42629199	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC197T																					ENST00000357001.2:c.158T>G	p.Leu53Arg	p.L53R	ENST00000357001	NM_033553.2	53	cTc/cGc	0	validated		benign	
YAF2		inserm.fr	GRCh37	12	42629611	42629611	+	intron_variant	Intron	SNP	A	C	C			CHC909T																					ENST00000442791.3:c.152+1790T>G		*51*	ENST00000442791	NM_001190979.1			0	not done		damaging	
NKTR		inserm.fr	GRCh37	3	42676752	42676752	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB167T									Valid												ENST00000232978.8:c.1057T>C	p.Ser353Pro	p.S353P	ENST00000232978	NM_005385.3	353	Tca/Cca	0	validated		probablydamaging	
KLHL40		inserm.fr	GRCh37	3	42730203	42730203	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1753T																					ENST00000287777.4:c.1415G>C	p.Ser472Thr	p.S472T	ENST00000287777	NM_152393.3	472	aGt/aCt	0	not done		benign	
ZNF106		inserm.fr	GRCh37	15	42731276	42731276	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC304T									Valid												ENST00000263805.4:c.4430C>G	p.Ser1477Cys	p.S1477C	ENST00000263805	NM_022473.1	1477	tCt/tGt	0	validated		probablydamaging	
ZNF106		inserm.fr	GRCh37	15	42740310	42740310	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC304T																					ENST00000263805.4:c.3026A>G	p.Asn1009Ser	p.N1009S	ENST00000263805	NM_022473.1	1009	aAt/aGt	0	validated		possiblydamaging	
C17orf104		inserm.fr	GRCh37	17	42746791	42746791	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1708T																					ENST00000409122.2:c.2363T>C	p.Val788Ala	p.V788A	ENST00000409122	NM_001145080.2	788	gTa/gCa	0	not done		possiblydamaging	
MX2		inserm.fr	GRCh37	21	42749771	42749771	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1209T																					ENST00000330714.3:c.305A>C	p.Asp102Ala	p.D102A	ENST00000330714	NM_002463.1	102	gAc/gCc	0	not done		probablydamaging	
ERF		inserm.fr	GRCh37	19	42753775	42753775	+	synonymous_variant	Silent	SNP	T	C	C			CHC465T																					ENST00000222329.4:c.489A>G	p.Pro163=	p.P163=	ENST00000222329	NM_006494.2	163	ccA/ccG	0	validated		synonymous	
CCDC152		inserm.fr	GRCh37	5	42797036	42797036	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1598T																					ENST00000361970.5:c.536A>C	p.Glu179Ala	p.E179A	ENST00000361970	NM_001134848.1	179	gAa/gCa	0	not done		probablydamaging	
PRR19		inserm.fr	GRCh37	19	42814307	42814307	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1180T																					ENST00000499536.2:c.571G>C	p.Val191Leu	p.V191L	ENST00000499536		191	Gtg/Ctg	0	validated		probablydamaging	
LIPE		inserm.fr	GRCh37	19	42931111	42931111	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1568T																					ENST00000244289.4:c.191C>G	p.Pro64Arg	p.P64R	ENST00000244289	NM_005357.2	64	cCt/cGt	0	not done		benign	
ZNF662		inserm.fr	GRCh37	3	42954772	42954772	+	intron_variant	Intron	SNP	G	C	C			CHC912T																					ENST00000328199.6:c.332-1047G>C		*111*	ENST00000328199	NM_001134656.1			0	validated		benign	
KLHDC3		inserm.fr	GRCh37	6	42986622	42986622	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1148T																					ENST00000326974.4:c.842T>C	p.Ile281Thr	p.I281T	ENST00000326974	NM_057161.3	281	aTt/aCt	0	not done		benign	
POLDIP3		inserm.fr	GRCh37	22	42992212	42992212	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1720T																					ENST00000252115.5:c.793A>G	p.Lys265Glu	p.K265E	ENST00000252115	NM_001278657.1	265	Aaa/Gaa	0	not done		probablydamaging	
CUL7		inserm.fr	GRCh37	6	43013768	43013768	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC059T																					ENST00000535468.1:c.2974T>G	p.Cys992Gly	p.C992G	ENST00000535468	NM_014780.4	992	Tgc/Ggc	0	validated		benign	
PTK7		inserm.fr	GRCh37	6	43106883	43106883	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM397T									Valid												ENST00000481273.1:c.1396T>C	p.Phe466Leu	p.F466L	ENST00000481273	NM_001270398.1	466	Ttc/Ctc	0	validated		possiblydamaging	
CHL1		inserm.fr	GRCh37	3	431098	431098	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC614T																					ENST00000256509.2:c.2411T>C	p.Ile804Thr	p.I804T	ENST00000256509	NM_001253388.1	804	aTc/aCc	0	validated		benign	
CHL1		inserm.fr	GRCh37	3	431102	431102	+	synonymous_variant	Silent	SNP	T	C	C			CHC1601T																					ENST00000256509.2:c.2415T>C	p.Asn805=	p.N805=	ENST00000256509	NM_001253388.1	805	aaT/aaC	0	not done		synonymous	
FSD1		inserm.fr	GRCh37	19	4311932	4311932	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC805T																					ENST00000221856.6:c.584T>C	p.Ile195Thr	p.I195T	ENST00000221856	NM_024333.2	195	aTt/aCt	0	not done		probablydamaging	
ZNF318		inserm.fr	GRCh37	6	43316106	43316106	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2215T																					ENST00000361428.2:c.3028A>G	p.Ser1010Gly	p.S1010G	ENST00000361428	NM_014345.2	1010	Agc/Ggc	0	not done		probablydamaging	
FMNL1		inserm.fr	GRCh37	17	43316394	43316394	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC734T																					ENST00000331495.3:c.1042T>C	p.Tyr348His	p.Y348H	ENST00000331495	NM_005892.3	348	Tat/Cat	0	not done		probablydamaging	
SNRK		inserm.fr	GRCh37	3	43344704	43344704	+	synonymous_variant	Silent	SNP	A	C	C			CHC1763T																					ENST00000296088.7:c.9A>C	p.Gly3=	p.G3=	ENST00000296088	NM_017719.4	3	ggA/ggC	0	not done		synonymous	
TTC17		inserm.fr	GRCh37	11	43429090	43429090	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1035T																					ENST00000039989.4:c.2027A>C	p.Lys676Thr	p.K676T	ENST00000039989	NM_018259.5	676	aAg/aCg	0	validated		benign	
C5orf28		inserm.fr	GRCh37	5	43446377	43446377	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1569T																					ENST00000500337.2:c.595A>G	p.Thr199Ala	p.T199A	ENST00000500337		199	Aca/Gca	0	not done		probablydamaging	
TTLL1		inserm.fr	GRCh37	22	43465761	43465761	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1600T																					ENST00000266254.7:c.203A>G	p.His68Arg	p.H68R	ENST00000266254	NM_012263.4	68	cAc/cGc	0	not done		probablydamaging	
ARHGAP27		inserm.fr	GRCh37	17	43480112	43480112	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM703T																					ENST00000376922.2:c.688A>G	p.Lys230Glu	p.K230E	ENST00000376922	NM_199282.2	230	Aaa/Gaa	0	validated		probablydamaging	
TGM5		inserm.fr	GRCh37	15	43531069	43531069	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM695T																					ENST00000220420.5:c.1291A>G	p.Ser431Gly	p.S431G	ENST00000220420	NM_201631.3	431	Agc/Ggc	0	validated		benign	
TTLL12		inserm.fr	GRCh37	22	43564115	43564115	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC258T																					ENST00000216129.6:c.1834T>G	p.Cys612Gly	p.C612G	ENST00000216129	NM_015140.3	612	Tgt/Ggt	0	validated		probablydamaging	
PSG2		inserm.fr	GRCh37	19	43570726	43570726	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2112T																					ENST00000406487.1:c.991C>G	p.Leu331Val	p.L331V	ENST00000406487	NM_031246.3	331	Ctc/Gtc	0	not done		benign	
PSTPIP2		inserm.fr	GRCh37	18	43585476	43585476	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2208T																					ENST00000409746.5:c.376A>G	p.Ile126Val	p.I126V	ENST00000409746	NM_024430.3	126	Atc/Gtc	0	not done		benign	
NNT		inserm.fr	GRCh37	5	43609382	43609382	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC433T									Valid												ENST00000264663.5:c.85A>C	p.Lys29Gln	p.K29Q	ENST00000264663	NM_012343.3	29	Aag/Cag	0	validated		benign	
LCMT2		inserm.fr	GRCh37	15	43620927	43620927	+	stop_gained	Nonsense_Mutation	SNP	G	C	C			CHC1035T									Valid												ENST00000305641.5:c.1761C>G	p.Tyr587Ter	p.Y587*	ENST00000305641	NM_014793.4	587	taC/taG	0	validated		damaging	
LCMT2		inserm.fr	GRCh37	15	43621609	43621609	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000305641.5:c.1079A>G	p.His360Arg	p.H360R	ENST00000305641	NM_014793.4	360	cAc/cGc	0	not done		probablydamaging	
MAOB		inserm.fr	GRCh37	X	43655031	43655031	+	synonymous_variant	Silent	SNP	T	C	C			CHC1185T																					ENST00000378069.4:c.723A>G	p.Thr241=	p.T241=	ENST00000378069	NM_000898.4	241	acA/acG	0	not done		synonymous	
MAOB		inserm.fr	GRCh37	X	43656443	43656443	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2321T									Valid												ENST00000378069.4:c.547C>G	p.Leu183Val	p.L183V	ENST00000378069	NM_000898.4	183	Ctc/Gtc	0	validated		probablydamaging	
CSGALNACT2		inserm.fr	GRCh37	10	43662485	43662485	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC303T																					ENST00000374466.3:c.1193T>C	p.Leu398Pro	p.L398P	ENST00000374466	NM_018590.4	398	cTt/cCt	0	validated		probablydamaging	
CSGALNACT2		inserm.fr	GRCh37	10	43678926	43678926	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2034T																					ENST00000374466.3:c.1565G>C	p.Arg522Thr	p.R522T	ENST00000374466	NM_018590.4	522	aGg/aCg	0	not done		probablydamaging	
TUBGCP4		inserm.fr	GRCh37	15	43687803	43687803	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1148T																					ENST00000564079.1:c.1088T>C	p.Leu363Pro	p.L363P	ENST00000564079	NM_014444.2	363	cTg/cCg	0	not done		probablydamaging	
KCNS1		inserm.fr	GRCh37	20	43726976	43726976	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC736T																					ENST00000306117.1:c.437A>G	p.Asn146Ser	p.N146S	ENST00000306117	NM_002251.3	146	aAc/aGc	0	validated		benign	
TMPRSS3		inserm.fr	GRCh37	21	43795972	43795972	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1566T																					ENST00000291532.3:c.1200C>G	p.Asp400Glu	p.D400E	ENST00000291532	NM_032404.2	400	gaC/gaG	0	not done		probablydamaging	
THADA		inserm.fr	GRCh37	2	43798911	43798911	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC304T																					ENST00000405006.4:c.1999A>G	p.Ile667Val	p.I667V	ENST00000405006	NM_001083953.1	667	Att/Gtt	0	validated		benign	
THADA		inserm.fr	GRCh37	2	43802132	43802132	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC798T									Valid												ENST00000405006.4:c.1072A>G	p.Arg358Gly	p.R358G	ENST00000405006	NM_001083953.1	358	Aga/Gga	0	validated		possiblydamaging	
SEMG1		inserm.fr	GRCh37	20	43837077	43837077	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1611T																					ENST00000372781.3:c.1139A>C	p.Lys380Thr	p.K380T	ENST00000372781	NM_003007.3	380	aAg/aCg	0	not done		benign	
SEMG2		inserm.fr	GRCh37	20	43851218	43851218	+	synonymous_variant	Silent	SNP	T	C	C			CHC429T																					ENST00000372769.3:c.945T>C	p.Ser315=	p.S315=	ENST00000372769	NM_003008.2	315	tcT/tcC	0	validated		synonymous	
SEMG2		inserm.fr	GRCh37	20	43851567	43851567	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1148T																					ENST00000372769.3:c.1294G>C	p.Gly432Arg	p.G432R	ENST00000372769	NM_003008.2	432	Ggc/Cgc	0	not done		probablydamaging	
GLIS2		inserm.fr	GRCh37	16	4386772	4386772	+	synonymous_variant	Silent	SNP	T	C	C			BCM325T																					ENST00000262366.3:c.822T>C	p.Tyr274=	p.Y274=	ENST00000262366		274	taT/taC	0	validated		synonymous	
HNRNPF		inserm.fr	GRCh37	10	43882086	43882086	+	stop_lost	Nonstop_Mutation	SNP	T	C	C			CHC1035T																					ENST00000443950.2:c.1247A>G	p.Ter416TrpextTer3	p.*416Wext*3	ENST00000443950	NM_001098208.1	416	tAg/tGg	0	validated		damaging	
HNRNPF		inserm.fr	GRCh37	10	43882879	43882879	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC303T									Valid												ENST00000443950.2:c.454A>G	p.Thr152Ala	p.T152A	ENST00000443950	NM_001098208.1	152	Aca/Gca	0	validated		probablydamaging	
RSPH1		inserm.fr	GRCh37	21	43896027	43896027	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1704T																					ENST00000291536.3:c.858C>G	p.Phe286Leu	p.F286L	ENST00000291536	NM_080860.2	286	ttC/ttG	0	not done		benign	
EFCAB6		inserm.fr	GRCh37	22	44083439	44083439	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1731T																					ENST00000262726.7:c.1054A>G	p.Lys352Glu	p.K352E	ENST00000262726	NM_022785.3	352	Aaa/Gaa	0	not done		possiblydamaging	
MFAP1		inserm.fr	GRCh37	15	44102005	44102005	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC097T																					ENST00000267812.3:c.995A>G	p.Lys332Arg	p.K332R	ENST00000267812	NM_005926.2	332	aAg/aGg	0	not done		probablydamaging	
TMEM63B		inserm.fr	GRCh37	6	44116562	44116562	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1044T																					ENST00000259746.9:c.1293G>C	p.Trp431Cys	p.W431C	ENST00000259746		431	tgG/tgC	0	not done		probablydamaging	
KDM4A		inserm.fr	GRCh37	1	44132208	44132208	+	synonymous_variant	Silent	SNP	T	C	C			CHC1600T																					ENST00000372396.3:c.759T>C	p.Tyr253=	p.Y253=	ENST00000372396	NM_014663.2	253	taT/taC	0	not done		synonymous	
POLD2		inserm.fr	GRCh37	7	44155775	44155775	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC314T																					ENST00000406581.2:c.958A>G	p.Thr320Ala	p.T320A	ENST00000406581	NM_001256879.1	320	Act/Gct	0	validated		benign	
KDM4A		inserm.fr	GRCh37	1	44157982	44157982	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			BCM257T																					ENST00000372396.3:c.2375G>C	p.Arg792Thr	p.R792T	ENST00000372396	NM_014663.2	792	aGg/aCg	0	validated		possiblydamaging	
KDM4A		inserm.fr	GRCh37	1	44163676	44163676	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1207T																					ENST00000372396.3:c.2833G>C	p.Asp945His	p.D945H	ENST00000372396	NM_014663.2	945	Gac/Cac	0	not done		probablydamaging	
GCK		inserm.fr	GRCh37	7	44186145	44186145	+	synonymous_variant	Silent	SNP	T	C	C			CHC2362T																					ENST00000345378.2:c.939A>G	p.Glu313=	p.E313=	ENST00000345378	NM_033507.1	313	gaA/gaG	0	validated		synonymous	
LRPPRC		inserm.fr	GRCh37	2	44201369	44201369	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1201T																					ENST00000260665.7:c.1075C>G	p.Leu359Val	p.L359V	ENST00000260665	NM_133259.3	359	Cta/Gta	0	not done		benign	
SMG9		inserm.fr	GRCh37	19	44241829	44241829	+	synonymous_variant	Silent	SNP	G	C	C			CHC1186T																					ENST00000270066.6:c.915C>G	p.Leu305=	p.L305=	ENST00000270066	NM_019108.2	305	ctC/ctG	0	not done		synonymous	
STX18		inserm.fr	GRCh37	4	4425248	4425248	+	synonymous_variant	Silent	SNP	T	C	C			CHC1749T																					ENST00000306200.2:c.828A>G	p.Gln276=	p.Q276=	ENST00000306200	NM_016930.2	276	caA/caG	0	not done		synonymous	
TOPAZ1		inserm.fr	GRCh37	3	44284662	44284662	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1079T																					ENST00000309765.4:c.664T>C	p.Ser222Pro	p.S222P	ENST00000309765	NM_001145030.1	222	Tcc/Ccc	0	not done		benign	
SPATS1		inserm.fr	GRCh37	6	44336166	44336166	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2099T																					ENST00000288390.2:c.625T>C	p.Tyr209His	p.Y209H	ENST00000288390		209	Tat/Cat	0	not done		probablydamaging	
ZNF45		inserm.fr	GRCh37	19	44417561	44417561	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB111T																					ENST00000269973.5:c.2027A>G	p.Asp676Gly	p.D676G	ENST00000269973	NM_003425.3	676	gAt/gGt	0	validated		benign	
SNX21		inserm.fr	GRCh37	20	44469777	44469777	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2052T																					ENST00000491381.1:c.947A>C	p.Lys316Thr	p.K316T	ENST00000491381		316	aAg/aCg	0	not done		benign	
PIAS2		inserm.fr	GRCh37	18	44470924	44470924	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM617T																					ENST00000585916.1:c.118A>G	p.Arg40Gly	p.R40G	ENST00000585916	NM_004671.3	40	Agg/Ggg	0	validated		probablydamaging	
ZNF445		inserm.fr	GRCh37	3	44490081	44490081	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC314T																					ENST00000425708.2:c.1082A>G	p.Gln361Arg	p.Q361R	ENST00000425708		361	cAg/cGg	0	validated		benign	
ZNF222		inserm.fr	GRCh37	19	44536936	44536936	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1597T																					ENST00000391960.3:c.1229A>C	p.Asn410Thr	p.N410T	ENST00000391960	NM_001129996.1	410	aAc/aCc	0	not done		probablydamaging	
NPC1L1		inserm.fr	GRCh37	7	44578887	44578887	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1566T																					ENST00000289547.4:c.1109T>G	p.Leu370Arg	p.L370R	ENST00000289547	NM_013389.2	370	cTg/cGg	0	not done		probablydamaging	
ZNF284		inserm.fr	GRCh37	19	44590908	44590908	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM723T																					ENST00000421176.3:c.1277T>C	p.Leu426Pro	p.L426P	ENST00000421176	NM_001037813.2	426	cTg/cCg	0	validated		benign	
ZNF35		inserm.fr	GRCh37	3	44700400	44700400	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC322T									Valid												ENST00000396056.2:c.545G>C	p.Cys182Ser	p.C182S	ENST00000396056	NM_003420.3	182	tGt/tCt	0	validated		possiblydamaging	
ZMIZ2		inserm.fr	GRCh37	7	44806036	44806036	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1756T																					ENST00000309315.4:c.2429A>C	p.His810Pro	p.H810P	ENST00000309315	NM_031449.3	810	cAc/cCc	0	not done		possiblydamaging	
SIK1		inserm.fr	GRCh37	21	44839797	44839797	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM501T																					ENST00000270162.6:c.1061C>G	p.Ala354Gly	p.A354G	ENST00000270162	NM_173354.3	354	gCc/gGc	0	validated		benign	
KIF15		inserm.fr	GRCh37	3	44844342	44844342	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM703T																					ENST00000326047.4:c.1546G>C	p.Glu516Gln	p.E516Q	ENST00000326047	NM_020242.2	516	Gaa/Caa	0	validated		probablydamaging	
SPG11		inserm.fr	GRCh37	15	44918707	44918707	+	splice_acceptor_variant	Splice_Site	SNP	T	C	C			CHC1148T																					ENST00000261866.7:c.2068-2A>G		p.X690_splice	ENST00000261866	NM_025137.3			0	not done		possiblydamaging	
PATL2		inserm.fr	GRCh37	15	44958685	44958685	+	synonymous_variant	Silent	SNP	A	C	C			CHC1190T																					ENST00000434130.1:c.1518T>G	p.Ser506=	p.S506=	ENST00000434130	NM_001145112.1	506	tcT/tcG	0	validated		synonymous	
ELMO2		inserm.fr	GRCh37	20	45003269	45003269	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2112T																					ENST00000290246.6:c.1076A>G	p.Asn359Ser	p.N359S	ENST00000290246	NM_133171.3	359	aAt/aGt	0	not done		benign	
MYO1G		inserm.fr	GRCh37	7	45006340	45006340	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1592T																					ENST00000258787.7:c.1880T>G	p.Leu627Arg	p.L627R	ENST00000258787	NM_033054.2	627	cTg/cGg	0	not done		probablydamaging	
MYO1G		inserm.fr	GRCh37	7	45016579	45016579	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2034T																					ENST00000258787.7:c.187A>G	p.Ile63Val	p.I63V	ENST00000258787	NM_033054.2	63	Atc/Gtc	0	not done		benign	
CXorf36		inserm.fr	GRCh37	X	45051085	45051085	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM617T																					ENST00000398000.2:c.409A>G	p.Lys137Glu	p.K137E	ENST00000398000	NM_176819.3	137	Aag/Gag	0	validated		possiblydamaging	
CDCP1		inserm.fr	GRCh37	3	45152010	45152010	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCB301T																					ENST00000296129.1:c.979C>G	p.Arg327Gly	p.R327G	ENST00000296129	NM_022842.4	327	Cgg/Ggg	0	validated		probablydamaging	
NELL2		inserm.fr	GRCh37	12	45209865	45209865	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1595T																					ENST00000437801.2:c.389A>G	p.Lys130Arg	p.K130R	ENST00000437801	NM_001145107.1	130	aAg/aGg	0	validated		probablydamaging	
RPS8		inserm.fr	GRCh37	1	45242381	45242381	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1738T																					ENST00000396651.3:c.146G>C	p.Arg49Pro	p.R49P	ENST00000396651		49	cGg/cCg	0	not done		probablydamaging	
ITGB3		inserm.fr	GRCh37	17	45369740	45369740	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2321T																					ENST00000559488.1:c.1496G>C	p.Cys499Ser	p.C499S	ENST00000559488	NM_000212.2	499	tGc/tCc	0	validated		probablydamaging	
LRG1		inserm.fr	GRCh37	19	4538318	4538318	+	synonymous_variant	Silent	SNP	T	C	C			CHC469T																					ENST00000306390.6:c.678A>G	p.Val226=	p.V226=	ENST00000306390	NM_052972.2	226	gtA/gtG	0	validated		synonymous	
RUNX2		inserm.fr	GRCh37	6	45405740	45405740	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1742T																					ENST00000371438.1:c.637T>C	p.Tyr213His	p.Y213H	ENST00000371438	NM_001024630.3	213	Tat/Cat	0	not done		probablydamaging	
APOC2		inserm.fr	GRCh37	19	45451761	45451761	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2208T																					ENST00000590360.1:c.26T>C	p.Leu9Pro	p.L9P	ENST00000590360		9	cTg/cCg	0	not done		probablydamaging	
NUFIP1		inserm.fr	GRCh37	13	45556262	45556262	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1774T																					ENST00000379161.4:c.440A>G	p.Tyr147Cys	p.Y147C	ENST00000379161	NM_012345.2	147	tAt/tGt	0	validated		probablydamaging	
ZNF296		inserm.fr	GRCh37	19	45575780	45575780	+	synonymous_variant	Silent	SNP	G	C	C			CHC884T																					ENST00000303809.2:c.507C>G	p.Ala169=	p.A169=	ENST00000303809	NM_145288.1	169	gcC/gcG	0	validated		synonymous	
NUP50		inserm.fr	GRCh37	22	45579345	45579345	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1081T																					ENST00000347635.4:c.1148T>C	p.Leu383Ser	p.L383S	ENST00000347635	NM_007172.3	383	tTa/tCa	0	validated		probablydamaging	
SRBD1		inserm.fr	GRCh37	2	45616700	45616700	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2110Tbis																					ENST00000263736.4:c.2737C>G	p.Leu913Val	p.L913V	ENST00000263736	NM_018079.4	913	Ctg/Gtg	0	not done		benign	
FANCM		inserm.fr	GRCh37	14	45644425	45644425	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1148T																					ENST00000267430.5:c.2468A>C	p.Gln823Pro	p.Q823P	ENST00000267430	NM_020937.2	823	cAa/cCa	0	not done		possiblydamaging	
ADCY1		inserm.fr	GRCh37	7	45719334	45719334	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1720T																					ENST00000297323.7:c.1925T>C	p.Val642Ala	p.V642A	ENST00000297323	NM_021116.2	642	gTa/gCa	0	not done		probablydamaging	
KPNB1		inserm.fr	GRCh37	17	45738490	45738490	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC898T																					ENST00000290158.4:c.642A>C	p.Glu214Asp	p.E214D	ENST00000290158	NM_002265.5	214	gaA/gaC	0	not done		probablydamaging	
SLC30A4		inserm.fr	GRCh37	15	45777467	45777467	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM483T																					ENST00000261867.4:c.1184A>G	p.His395Arg	p.H395R	ENST00000261867	NM_013309.4	395	cAt/cGt	0	validated		benign	
SLC30A4		inserm.fr	GRCh37	15	45781057	45781057	+	synonymous_variant	Silent	SNP	T	C	C			CHC314T																					ENST00000261867.4:c.876A>G	p.Ala292=	p.A292=	ENST00000261867	NM_013309.4	292	gcA/gcG	0	validated		synonymous	
HPDL		inserm.fr	GRCh37	1	45793030	45793030	+	synonymous_variant	Silent	SNP	T	C	C			CHC1597T																					ENST00000334815.3:c.210T>C	p.Asp70=	p.D70=	ENST00000334815	NM_032756.2	70	gaT/gaC	0	not done		synonymous	
TRPM2		inserm.fr	GRCh37	21	45811319	45811319	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1747T																					ENST00000397928.1:c.1605G>C	p.Lys535Asn	p.K535N	ENST00000397928	NM_003307.3	535	aaG/aaC	0	not done		probablydamaging	
TBX21		inserm.fr	GRCh37	17	45822334	45822334	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC917T																					ENST00000177694.1:c.1210A>C	p.Met404Leu	p.M404L	ENST00000177694	NM_013351.1	404	Atg/Ctg	0	validated		benign	
SLC6A20		inserm.fr	GRCh37	3	45837883	45837883	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM567T																					ENST00000358525.4:c.29A>G	p.Asn10Ser	p.N10S	ENST00000358525	NM_020208.3	10	aAc/aGc	0	validated		benign	
PELP1		inserm.fr	GRCh37	17	4586245	4586245	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	C	C			CHC059T																					ENST00000574876.1:c.423C>G	p.Thr141=	p.T141=	ENST00000574876		141	acC/acG	0	validated		synonymous	
PPP1R13L		inserm.fr	GRCh37	19	45889109	45889109	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1191T																					ENST00000418234.2:c.2054A>G	p.Asn685Ser	p.N685S	ENST00000418234	NM_001142502.1	685	aAt/aGt	0	not done		probablydamaging	
ZMYND8		inserm.fr	GRCh37	20	45915987	45915987	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC805T																					ENST00000461685.1:c.790A>G	p.Ile264Val	p.I264V	ENST00000461685		264	Atc/Gtc	0	not done		possiblydamaging	
FAM110C		inserm.fr	GRCh37	2	45924	45924	+	synonymous_variant	Silent	SNP	G	C	C			CHC1775T																					ENST00000327669.4:c.462C>G	p.Thr154=	p.T154=	ENST00000327669	NM_001077710.2	154	acC/acG	0	validated		synonymous	
SP6		inserm.fr	GRCh37	17	45925371	45925371	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC218T																					ENST00000536300.1:c.425C>G	p.Pro142Arg	p.P142R	ENST00000536300	NM_001258248.1	142	cCt/cGt	0	validated		benign	
SQRDL		inserm.fr	GRCh37	15	45962144	45962144	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM501T																					ENST00000260324.7:c.424A>C	p.Ile142Leu	p.I142L	ENST00000260324	NM_021199.3	142	Att/Ctt	0	validated		probablydamaging	
KRTAP10-4		inserm.fr	GRCh37	21	45993935	45993935	+	synonymous_variant	Silent	SNP	T	C	C			CHC793T																					ENST00000400374.3:c.300T>C	p.Cys100=	p.C100=	ENST00000400374	NM_198687.1	100	tgT/tgC	0	validated		synonymous	
KRTAP10-10		inserm.fr	GRCh37	21	46057625	46057625	+	synonymous_variant	Silent	SNP	T	C	C			CHC2103T																					ENST00000380095.1:c.291T>C	p.Pro97=	p.P97=	ENST00000380095	NM_181688.1	97	ccT/ccC	0	not done		synonymous	
NASP		inserm.fr	GRCh37	1	46073470	46073470	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1201T																					ENST00000350030.3:c.887A>C	p.Glu296Ala	p.E296A	ENST00000350030	NM_002482.3	296	gAa/gCa	0	not done		probablydamaging	
DMWD		inserm.fr	GRCh37	19	46289327	46289327	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2115T																					ENST00000270223.6:c.1427C>G	p.Ser476Trp	p.S476W	ENST00000270223	NM_004943.1	476	tCg/tGg	0	validated		probablydamaging	
SCAF11		inserm.fr	GRCh37	12	46355497	46355497	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM683T									Valid												ENST00000369367.3:c.205C>G	p.Leu69Val	p.L69V	ENST00000369367	NM_004719.2	69	Ctt/Gtt	0	validated		probablydamaging	
ODF3L2		inserm.fr	GRCh37	19	463884	463884	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1600T																					ENST00000315489.4:c.830C>G	p.Ser277Cys	p.S277C	ENST00000315489	NM_182577.2	277	tCc/tGc	0	validated		probablydamaging	
CHST7		inserm.fr	GRCh37	X	46433708	46433708	+	synonymous_variant	Silent	SNP	G	C	C			CHC302T																					ENST00000276055.3:c.342G>C	p.Ser114=	p.S114=	ENST00000276055	NM_019886.2	114	tcG/tcC	0	validated		synonymous	
SMAD7		inserm.fr	GRCh37	18	46447803	46447803	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1085T																					ENST00000262158.2:c.1220A>G	p.Tyr407Cys	p.Y407C	ENST00000262158	NM_001190821.1	407	tAc/tGc	0	validated		probablydamaging	
AMBRA1		inserm.fr	GRCh37	11	46568722	46568722	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC320T									Valid												ENST00000314845.3:c.319A>G	p.Ile107Val	p.I107V	ENST00000314845	NM_017749.3	107	Atc/Gtc	0	validated		possiblydamaging	
CPB2		inserm.fr	GRCh37	13	46632373	46632373	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1065T									Valid												ENST00000181383.4:c.940C>G	p.Gln314Glu	p.Q314E	ENST00000181383	NM_001872.4	314	Cag/Gag	0	validated		probablydamaging	
CPB2		inserm.fr	GRCh37	13	46653002	46653002	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC961T																					ENST00000181383.4:c.419A>G	p.His140Arg	p.H140R	ENST00000181383	NM_001872.4	140	cAt/cGt	0	validated		benign	
TDRD6		inserm.fr	GRCh37	6	46661741	46661741	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1152T																					ENST00000316081.6:c.5876T>C	p.Leu1959Pro	p.L1959P	ENST00000316081	NM_001010870.2	1959	cTa/cCa	0	not done		benign	
PLA2G7		inserm.fr	GRCh37	6	46684717	46684717	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1747T																					ENST00000274793.7:c.226A>G	p.Asn76Asp	p.N76D	ENST00000274793	NM_005084.3	76	Aat/Gat	0	not done		benign	
VPS35		inserm.fr	GRCh37	16	46694560	46694560	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1715T																					ENST00000299138.7:c.2215A>G	p.Thr739Ala	p.T739A	ENST00000299138	NM_018206.4	739	Aca/Gca	0	not done		benign	
ORC6		inserm.fr	GRCh37	16	46724946	46724946	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2115T																					ENST00000219097.2:c.109G>C	p.Gly37Arg	p.G37R	ENST00000219097	NM_014321.3	37	Ggc/Cgc	0	not done		probablydamaging	
OR51E1		inserm.fr	GRCh37	11	4674232	4674232	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC794T																					ENST00000396952.5:c.476T>C	p.Met159Thr	p.M159T	ENST00000396952	NM_152430.3	159	aTg/aCg	0	validated		possiblydamaging	
SLC38A2		inserm.fr	GRCh37	12	46756343	46756343	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC304T																					ENST00000256689.5:c.1258A>G	p.Ile420Val	p.I420V	ENST00000256689	NM_018976.4	420	Atc/Gtc	0	validated		benign	
DYM		inserm.fr	GRCh37	18	46784833	46784833	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1626T																					ENST00000269445.6:c.1282C>G	p.Arg428Gly	p.R428G	ENST00000269445	NM_017653.3	428	Cga/Gga	0	not done		probablydamaging	
FAAH		inserm.fr	GRCh37	1	46879133	46879133	+	synonymous_variant	Silent	SNP	T	C	C			CHC2110Tbis																					ENST00000243167.8:c.1626T>C	p.Ser542=	p.S542=	ENST00000243167	NM_001441.2	542	agT/agC	0	not done		synonymous	
PPP5C		inserm.fr	GRCh37	19	46893365	46893365	+	synonymous_variant	Silent	SNP	T	C	C			CHC1154T																					ENST00000012443.4:c.1413T>C	p.Pro471=	p.P471=	ENST00000012443	NM_006247.3	471	ccT/ccC	0	not done		synonymous	
CDC37L1		inserm.fr	GRCh37	9	4697136	4697136	+	synonymous_variant	Silent	SNP	T	C	C			CHC1626T																					ENST00000381854.3:c.549T>C	p.Ser183=	p.S183=	ENST00000381854	NM_017913.2	183	tcT/tcC	0	not done		synonymous	
SOCS5		inserm.fr	GRCh37	2	46985776	46985776	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC798T																					ENST00000306503.5:c.107G>C	p.Arg36Thr	p.R36T	ENST00000306503	NM_014011.4	36	aGa/aCa	0	validated		benign	
PNMAL2		inserm.fr	GRCh37	19	46997720	46997720	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC433T																					ENST00000599531.1:c.1003A>G	p.Ile335Val	p.I335V	ENST00000599531	NM_020709.1	335	Att/Gtt	0	validated		benign	
OR51E2		inserm.fr	GRCh37	11	4703058	4703058	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM567T																					ENST00000396950.3:c.884C>G	p.Thr295Ser	p.T295S	ENST00000396950	NM_030774.3	295	aCc/aGc	0	validated		probablydamaging	
CERK		inserm.fr	GRCh37	22	47106988	47106988	+	stop_gained	Nonsense_Mutation	SNP	G	C	C			CHC1629T																					ENST00000216264.8:c.564C>G	p.Tyr188Ter	p.Y188*	ENST00000216264	NM_022766.5	188	taC/taG	0	not done		damaging	
MCFD2		inserm.fr	GRCh37	2	47132678	47132678	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2103T																					ENST00000409105.1:c.365A>G	p.Asp122Gly	p.D122G	ENST00000409105	NM_001171506.2	122	gAt/gGt	0	not done		probablydamaging	
DPP9		inserm.fr	GRCh37	19	4714169	4714169	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC891T																					ENST00000262960.9:c.237C>G	p.Asn79Lys	p.N79K	ENST00000262960	NM_139159.4	79	aaC/aaG	0	not done		possiblydamaging	
SETD2		inserm.fr	GRCh37	3	47163600	47163600	+	synonymous_variant	Silent	SNP	T	C	C			BCB109T																					ENST00000409792.3:c.2526A>G	p.Thr842=	p.T842=	ENST00000409792	NM_014159.6	842	acA/acG	0	validated		synonymous	
EFCAB14		inserm.fr	GRCh37	1	47183713	47183713	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC703T																					ENST00000371933.3:c.47A>G	p.Asp16Gly	p.D16G	ENST00000371933	NM_014774.2	16	gAc/gGc	0	validated		probablydamaging	
SLC38A4		inserm.fr	GRCh37	12	47186820	47186820	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1531T																					ENST00000447411.1:c.35A>G	p.Glu12Gly	p.E12G	ENST00000447411	NM_001143824.1	12	gAa/gGa	0	not done		benign	
ARFGAP2		inserm.fr	GRCh37	11	47196636	47196636	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1603T																					ENST00000524782.1:c.410A>G	p.Asn137Ser	p.N137S	ENST00000524782	NM_032389.4	137	aAc/aGc	0	not done		benign	
PACSIN3		inserm.fr	GRCh37	11	47199516	47199516	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC303T									Valid												ENST00000539589.1:c.1241A>G	p.Tyr414Cys	p.Y414C	ENST00000539589	NM_001184975.1	414	tAc/tGc	0	validated		probablydamaging	
B4GALNT2		inserm.fr	GRCh37	17	47210411	47210411	+	synonymous_variant	Silent	SNP	G	C	C			CHC1148T																					ENST00000300404.2:c.24G>C	p.Val8=	p.V8=	ENST00000300404	NM_153446.2	8	gtG/gtC	0	not done		synonymous	
B4GALNT2		inserm.fr	GRCh37	17	47237988	47237988	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC314T									Valid												ENST00000300404.2:c.931T>C	p.Tyr311His	p.Y311H	ENST00000300404	NM_153446.2	311	Tac/Cac	0	validated		probablydamaging	
TNFRSF21		inserm.fr	GRCh37	6	47251944	47251944	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC327T																					ENST00000296861.2:c.973A>G	p.Ser325Gly	p.S325G	ENST00000296861	NM_014452.4	325	Agc/Ggc	0	validated		benign	
KIF9		inserm.fr	GRCh37	3	47286298	47286298	+	synonymous_variant	Silent	SNP	T	C	C			CHC1741T																					ENST00000335044.2:c.1497A>G	p.Thr499=	p.T499=	ENST00000335044	NM_001134878.1	499	acA/acG	0	not done		synonymous	
ACAA2		inserm.fr	GRCh37	18	47317852	47317852	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC912T																					ENST00000285093.10:c.871A>G	p.Ile291Val	p.I291V	ENST00000285093	NM_006111.2	291	Atc/Gtc	0	validated		benign	
ITFG1		inserm.fr	GRCh37	16	47409831	47409831	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM695T																					ENST00000320640.6:c.676A>G	p.Asn226Asp	p.N226D	ENST00000320640	NM_030790.3	226	Aat/Gat	0	validated		benign	
SYN1		inserm.fr	GRCh37	X	47434662	47434662	+	synonymous_variant	Silent	SNP	G	C	C			CHC197T																					ENST00000295987.7:c.1170C>G	p.Ser390=	p.S390=	ENST00000295987	NM_006950.3	390	tcC/tcG	0	validated		synonymous	
PTPN23		inserm.fr	GRCh37	3	47451204	47451204	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2103T																					ENST00000265562.4:c.2009A>C	p.Lys670Thr	p.K670T	ENST00000265562	NM_015466.2	670	aAg/aCg	0	not done		probablydamaging	
PTPN23		inserm.fr	GRCh37	3	47453892	47453892	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2141T																					ENST00000265562.4:c.4298A>C	p.Lys1433Thr	p.K1433T	ENST00000265562	NM_015466.2	1433	aAg/aCg	0	not done		probablydamaging	
PTPN23		inserm.fr	GRCh37	3	47454419	47454419	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB231T																					ENST00000265562.4:c.4655T>C	p.Leu1552Pro	p.L1552P	ENST00000265562	NM_015466.2	1552	cTa/cCa	0	validated		benign	
SCAP		inserm.fr	GRCh37	3	47455507	47455507	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC892T																					ENST00000265565.5:c.3677A>G	p.Asp1226Gly	p.D1226G	ENST00000265565	NM_012235.2	1226	gAc/gGc	0	not done		probablydamaging	
SYN1		inserm.fr	GRCh37	X	47464739	47464739	+	synonymous_variant	Silent	SNP	G	C	C			BCB167T																					ENST00000295987.7:c.567C>G	p.Ala189=	p.A189=	ENST00000295987	NM_006950.3	189	gcC/gcG	0	validated		synonymous	
RAPSN		inserm.fr	GRCh37	11	47470455	47470455	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2200T																					ENST00000298854.2:c.62A>G	p.Gln21Arg	p.Q21R	ENST00000298854	NM_005055.4	21	cAg/cGg	0	not done		probablydamaging	
MYO5B		inserm.fr	GRCh37	18	47488764	47488764	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC361TA									Valid												ENST00000285039.7:c.1417C>G	p.Leu473Val	p.L473V	ENST00000285039	NM_001080467.2	473	Ctg/Gtg	0	validated		probablydamaging	
PHB1		inserm.fr	GRCh37	17	47490595	47490595	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM501T																					ENST00000300408.3:c.32A>G	p.Lys11Arg	p.K11R	ENST00000300408	NM_002634.3	11	aAg/aGg	0	validated		benign	
CELF1		inserm.fr	GRCh37	11	47504386	47504386	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2352T																					ENST00000532048.1:c.626T>G	p.Val209Gly	p.V209G	ENST00000532048	NM_001172639.1	209	gTa/gGa	0	not done		probablydamaging	
COL6A2		inserm.fr	GRCh37	21	47548826	47548826	+	intron_variant	Intron	SNP	G	C	C			CHC1600T																					ENST00000300527.4:c.2461+2371G>C		*821*	ENST00000300527	NM_001849.3			0	not done			
FTCD		inserm.fr	GRCh37	21	47575407	47575407	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1534T																					ENST00000291670.5:c.31T>G	p.Phe11Val	p.F11V	ENST00000291670	NM_006657.2	11	Ttt/Gtt	0	validated		probablydamaging	
ATP10D		inserm.fr	GRCh37	4	47578814	47578814	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1041T									Valid												ENST00000273859.3:c.3391T>C	p.Tyr1131His	p.Y1131H	ENST00000273859	NM_020453.3	1131	Tac/Cac	0	validated		probablydamaging	
ZC3H4		inserm.fr	GRCh37	19	47593426	47593426	+	synonymous_variant	Silent	SNP	T	C	C			CHC1712T																					ENST00000253048.5:c.513A>G	p.Pro171=	p.P171=	ENST00000253048	NM_015168.1	171	ccA/ccG	0	not done		synonymous	
CSPG5		inserm.fr	GRCh37	3	47614315	47614315	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1741T																					ENST00000383738.2:c.1243A>G	p.Ile415Val	p.I415V	ENST00000383738	NM_001206945.1	415	Atc/Gtc	0	not done		benign	
LSS		inserm.fr	GRCh37	21	47615640	47615640	+	synonymous_variant	Silent	SNP	G	C	C			CHC097T																					ENST00000397728.3:c.1767C>G	p.Thr589=	p.T589=	ENST00000397728	NM_002340.5	589	acC/acG	0	not done		synonymous	
CSPG5		inserm.fr	GRCh37	3	47619177	47619177	+	synonymous_variant	Silent	SNP	T	C	C			CHC2052T																					ENST00000383738.2:c.339A>G	p.Ala113=	p.A113=	ENST00000383738	NM_001206945.1	113	gcA/gcG	0	not done		synonymous	
LSS		inserm.fr	GRCh37	21	47626662	47626662	+	synonymous_variant	Silent	SNP	T	C	C			CHC1747T																					ENST00000397728.3:c.1488A>G	p.Pro496=	p.P496=	ENST00000397728	NM_002340.5	496	ccA/ccG	0	not done		synonymous	
MSH2		inserm.fr	GRCh37	2	47639568	47639568	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1207T																					ENST00000233146.2:c.661G>C	p.Gly221Arg	p.G221R	ENST00000233146	NM_000251.2	221	Gga/Cga	0	not done		probablydamaging	
SPOP		inserm.fr	GRCh37	17	47696415	47696415	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC306T									Valid												ENST00000347630.2:c.408C>G	p.Phe136Leu	p.F136L	ENST00000347630	NM_001007230.1	136	ttC/ttG	0	validated		probablydamaging	
PHKB		inserm.fr	GRCh37	16	47703155	47703155	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2127T																					ENST00000323584.5:c.2457A>C	p.Glu819Asp	p.E819D	ENST00000323584	NM_000293.2	819	gaA/gaC	0	not done		possiblydamaging	
SMARCC1		inserm.fr	GRCh37	3	47716988	47716988	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2216T																					ENST00000254480.5:c.1816T>G	p.Tyr606Asp	p.Y606D	ENST00000254480	NM_003074.3	606	Tac/Gac	0	not done		probablydamaging	
STAU1		inserm.fr	GRCh37	20	47734596	47734596	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC121T									Valid												ENST00000371856.2:c.1227T>G	p.Ser409Arg	p.S409R	ENST00000371856	NM_017453.2	409	agT/agG	0	validated		probablydamaging	
CCDC9		inserm.fr	GRCh37	19	47767888	47767888	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1137T																					ENST00000221922.6:c.491T>C	p.Ile164Thr	p.I164T	ENST00000221922	NM_015603.2	164	aTt/aCt	0	not done		probablydamaging	
ITPR1		inserm.fr	GRCh37	3	4776847	4776847	+	splice_acceptor_variant	Splice_Site	SNP	G	C	C			BCB307T									Valid												ENST00000302640.8:c.5309-1G>C		p.X1770_splice	ENST00000302640	NM_001168272.1			0	validated		damaging	
FAM117A		inserm.fr	GRCh37	17	47793592	47793592	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1081T																					ENST00000240364.2:c.996T>G	p.His332Gln	p.H332Q	ENST00000240364	NM_030802.3	332	caT/caG	0	validated		probablydamaging	
NUP160		inserm.fr	GRCh37	11	47813541	47813541	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC1591T																					ENST00000378460.2:c.3452A>G	p.Tyr1151Cys	p.Y1151C	ENST00000378460	NM_015231.1	1151	tAt/tGt	0	not done		damaging	
ZNF182		inserm.fr	GRCh37	X	47836465	47836465	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC801T																					ENST00000396965.1:c.1021A>G	p.Thr341Ala	p.T341A	ENST00000396965	NM_001178099.1	341	Act/Gct	0	not done		probablydamaging	
PTCHD4		inserm.fr	GRCh37	6	47846067	47846067	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1192T																					ENST00000339488.4:c.2513A>G	p.Glu838Gly	p.E838G	ENST00000339488	NM_001013732.3	838	gAg/gGg	0	not done		probablydamaging	
NFXL1		inserm.fr	GRCh37	4	47853910	47853910	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1763T																					ENST00000507489.1:c.2471A>G	p.Asp824Gly	p.D824G	ENST00000507489	NM_001278624.1	824	gAc/gGc	0	not done		probablydamaging	
C16orf71		inserm.fr	GRCh37	16	4790185	4790185	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC465T									Valid												ENST00000299320.5:c.308A>C	p.Glu103Ala	p.E103A	ENST00000299320	NM_139170.2	103	gAa/gCa	0	validated		possiblydamaging	
FEM1A		inserm.fr	GRCh37	19	4793829	4793829	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1708T																					ENST00000269856.3:c.1963A>C	p.Lys655Gln	p.K655Q	ENST00000269856	NM_018708.2	655	Aag/Cag	0	not done		benign	
CNGA1		inserm.fr	GRCh37	4	47938466	47938466	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC322T																					ENST00000402813.3:c.2252C>G	p.Ala751Gly	p.A751G	ENST00000402813		751	gCg/gGg	0	validated		benign	
DIP2A		inserm.fr	GRCh37	21	47974522	47974522	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC801T																					ENST00000417564.2:c.3189G>C	p.Leu1063Phe	p.L1063F	ENST00000417564		1063	ttG/ttC	0	not done		probablydamaging	
KCNB1		inserm.fr	GRCh37	20	47989865	47989865	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC433T									Valid												ENST00000371741.4:c.2232A>G	p.Ile744Met	p.I744M	ENST00000371741	NM_004975.2	744	atA/atG	0	validated		probablydamaging	
HUS1		inserm.fr	GRCh37	7	48016433	48016433	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	C	C			CHC614T									Valid												ENST00000258774.5:c.359T>G	p.Leu120Ter	p.L120*	ENST00000258774	NM_004507.3	120	tTa/tGa	0	validated		damaging	
MSH6		inserm.fr	GRCh37	2	48026357	48026357	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1598T																					ENST00000234420.5:c.1235A>C	p.Lys412Thr	p.K412T	ENST00000234420	NM_000179.2	412	aAg/aCg	0	not done		possiblydamaging	
MSH6		inserm.fr	GRCh37	2	48027710	48027710	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1207T																					ENST00000234420.5:c.2588A>C	p.Glu863Ala	p.E863A	ENST00000234420	NM_000179.2	863	gAa/gCa	0	not done		probablydamaging	
ZNF541		inserm.fr	GRCh37	19	48036226	48036226	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC703T																					ENST00000314121.4:c.3155A>G	p.Gln1052Arg	p.Q1052R	ENST00000314121		1052	cAa/cGa	0	validated		probablydamaging	
SEMA6D		inserm.fr	GRCh37	15	48056387	48056387	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC805T																					ENST00000316364.5:c.982G>C	p.Val328Leu	p.V328L	ENST00000316364	NM_153618.1	328	Gtc/Ctc	0	not done		probablydamaging	
SEMA6D		inserm.fr	GRCh37	15	48056987	48056987	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC902T																					ENST00000316364.5:c.1250T>C	p.Val417Ala	p.V417A	ENST00000316364	NM_153618.1	417	gTc/gCc	0	not done		benign	
C7orf57		inserm.fr	GRCh37	7	48083109	48083109	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1148T																					ENST00000348904.3:c.273G>C	p.Arg91Ser	p.R91S	ENST00000348904	NM_001100159.2	91	agG/agC	0	not done		benign	
PRMT2		inserm.fr	GRCh37	21	48084209	48084209	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	C	C			CHC307T																					ENST00000397637.1:c.1272T>C	p.Val424=	p.V424=	ENST00000397637		424	gtT/gtC	0	validated		synonymous	
RAPGEF3		inserm.fr	GRCh37	12	48151686	48151686	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1763T																					ENST00000449771.2:c.182A>G	p.Glu61Gly	p.E61G	ENST00000449771		61	gAg/gGg	0	not done		benign	
TICAM1		inserm.fr	GRCh37	19	4817552	4817552	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM529T																					ENST00000248244.5:c.838C>G	p.Pro280Ala	p.P280A	ENST00000248244	NM_182919.3	280	Cca/Gca	0	validated		benign	
TICAM1		inserm.fr	GRCh37	19	4817786	4817786	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1611T																					ENST00000248244.5:c.604T>G	p.Ser202Ala	p.S202A	ENST00000248244	NM_182919.3	202	Tcc/Gcc	0	not done		probablydamaging	
PPP1R9B		inserm.fr	GRCh37	17	48227567	48227567	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM689T									Valid												ENST00000316878.6:c.308A>G	p.Glu103Gly	p.E103G	ENST00000316878	NM_032595.3	103	gAg/gGg	0	validated		possiblydamaging	
ABCC11		inserm.fr	GRCh37	16	48264477	48264477	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2362T																					ENST00000394747.1:c.107A>G	p.Tyr36Cys	p.Y36C	ENST00000394747	NM_033151.3	36	tAt/tGt	0	validated		benign	
LONP2		inserm.fr	GRCh37	16	48286176	48286176	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T																					ENST00000285737.4:c.368A>C	p.Glu123Ala	p.E123A	ENST00000285737	NM_031490.2	123	gAa/gCa	0	validated		benign	
ABCA13		inserm.fr	GRCh37	7	48312227	48312227	+	synonymous_variant	Silent	SNP	T	C	C			CHC1192T																					ENST00000435803.1:c.2964T>C	p.Leu988=	p.L988=	ENST00000435803	NM_152701.3	988	ctT/ctC	0	not done		synonymous	
ABCA13		inserm.fr	GRCh37	7	48313020	48313020	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1211T																					ENST00000435803.1:c.3757G>C	p.Val1253Leu	p.V1253L	ENST00000435803	NM_152701.3	1253	Gtg/Ctg	0	not done		benign	
ABCA13		inserm.fr	GRCh37	7	48315950	48315950	+	synonymous_variant	Silent	SNP	T	C	C			BCM275T																					ENST00000435803.1:c.6687T>C	p.Asp2229=	p.D2229=	ENST00000435803	NM_152701.3	2229	gaT/gaC	0	validated		synonymous	
SLAIN2		inserm.fr	GRCh37	4	48344069	48344069	+	synonymous_variant	Silent	SNP	T	C	C			BCB151T																					ENST00000264313.6:c.313T>C	p.Leu105=	p.L105=	ENST00000264313	NM_020846.1	105	Ttg/Ctg	0	validated		synonymous	
COL2A1		inserm.fr	GRCh37	12	48386671	48386671	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1603T																					ENST00000380518.3:c.1013C>G	p.Ala338Gly	p.A338G	ENST00000380518	NM_033150.2	338	gCt/gGt	0	not done		benign	
SIAH1		inserm.fr	GRCh37	16	48395599	48395599	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1052T																					ENST00000356721.3:c.834T>G	p.Ile278Met	p.I278M	ENST00000356721	NM_001006610.1	278	atT/atG	0	validated		possiblydamaging	
TBC1D25		inserm.fr	GRCh37	X	48418087	48418087	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1738T																					ENST00000376771.4:c.791A>C	p.Glu264Ala	p.E264A	ENST00000376771	NM_002536.2	264	gAg/gCg	0	not done		possiblydamaging	
SLC24A5		inserm.fr	GRCh37	15	48428910	48428910	+	synonymous_variant	Silent	SNP	T	C	C			CHC1601T																					ENST00000341459.3:c.621T>C	p.Tyr207=	p.Y207=	ENST00000341459	NM_205850.2	207	taT/taC	0	not done		synonymous	
OR51F2		inserm.fr	GRCh37	11	4842943	4842943	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC793T									Valid												ENST00000322110.5:c.328G>C	p.Ala110Pro	p.A110P	ENST00000322110	NM_001004753.1	110	Gcc/Ccc	0	validated		possiblydamaging	
PFKM		inserm.fr	GRCh37	12	48535842	48535842	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB151T									Valid												ENST00000340802.6:c.1859T>C	p.Ile620Thr	p.I620T	ENST00000340802	NM_001166686.1	620	aTc/aCc	0	validated		possiblydamaging	
ASB8		inserm.fr	GRCh37	12	48543181	48543181	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2103T																					ENST00000317697.3:c.835T>G	p.Ser279Ala	p.S279A	ENST00000317697	NM_024095.3	279	Tct/Gct	0	not done		benign	
FOXN2		inserm.fr	GRCh37	2	48602110	48602110	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1040T																					ENST00000340553.3:c.824G>C	p.Gly275Ala	p.G275A	ENST00000340553	NM_002158.3	275	gGc/gCc	0	not done		benign	
EPN3		inserm.fr	GRCh37	17	48619355	48619355	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1028T																					ENST00000268933.3:c.1736T>C	p.Leu579Pro	p.L579P	ENST00000268933	NM_017957.2	579	cTg/cCg	0	validated		probablydamaging	
CELSR3		inserm.fr	GRCh37	3	48677161	48677161	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC451T																					ENST00000164024.4:c.9857C>G	p.Ser3286Cys	p.S3286C	ENST00000164024	NM_001407.2	3286	tCc/tGc	0	validated		probablydamaging	
CELSR3		inserm.fr	GRCh37	3	48699195	48699195	+	synonymous_variant	Silent	SNP	G	C	C			CHC1061T																					ENST00000164024.4:c.873C>G	p.Pro291=	p.P291=	ENST00000164024	NM_001407.2	291	ccC/ccG	0	validated		synonymous	
H1FNT		inserm.fr	GRCh37	12	48723295	48723295	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1186T																					ENST00000335017.1:c.221T>C	p.Leu74Pro	p.L74P	ENST00000335017	NM_181788.1	74	cTg/cCg	0	not done		probablydamaging	
FBN1		inserm.fr	GRCh37	15	48726862	48726862	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC793T																					ENST00000316623.5:c.6545A>G	p.Lys2182Arg	p.K2182R	ENST00000316623	NM_000138.4	2182	aAg/aGg	0	validated		benign	
PRKDC		inserm.fr	GRCh37	8	48736457	48736457	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB109T																					ENST00000314191.2:c.8881A>G	p.Arg2961Gly	p.R2961G	ENST00000314191	NM_006904.6	2961	Aga/Gga	0	validated		probablydamaging	
ABCC3		inserm.fr	GRCh37	17	48741358	48741358	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T									Valid												ENST00000285238.8:c.1224A>C	p.Glu408Asp	p.E408D	ENST00000285238	NM_003786.3	408	gaA/gaC	0	validated		probablydamaging	
PRKDC		inserm.fr	GRCh37	8	48749865	48749865	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1569T																					ENST00000314191.2:c.7666T>G	p.Leu2556Val	p.L2556V	ENST00000314191	NM_006904.6	2556	Tta/Gta	0	not done		synonymous	
ANKRD40		inserm.fr	GRCh37	17	48776816	48776816	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC314T									Valid												ENST00000285243.6:c.722C>G	p.Pro241Arg	p.P241R	ENST00000285243	NM_052855.3	241	cCa/cGa	0	validated		possiblydamaging	
CCDC114		inserm.fr	GRCh37	19	48800910	48800910	+	synonymous_variant	Silent	SNP	A	C	C			CHC451T																					ENST00000315396.7:c.1407T>G	p.Gly469=	p.G469=	ENST00000315396	NM_144577.3	469	ggT/ggG	0	not done		synonymous	
OR51H1P		inserm.fr	GRCh37	11	4881415	4881415	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2206T																					ENST00000322059.1:c.380C>G	p.Ala127Gly	p.A127G	ENST00000322059		127	gCc/gGc	0	not done			
LUC7L3		inserm.fr	GRCh37	17	48822077	48822077	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM791T																					ENST00000505658.1:c.596T>C	p.Leu199Ser	p.L199S	ENST00000505658		199	tTa/tCa	0	validated		probablydamaging	
PRKDC		inserm.fr	GRCh37	8	48852172	48852172	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1569T																					ENST00000314191.2:c.1052A>G	p.Asn351Ser	p.N351S	ENST00000314191	NM_006904.6	351	aAt/aGt	0	not done		benign	
GRIN2D		inserm.fr	GRCh37	19	48919368	48919368	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2200T																					ENST00000263269.3:c.1691T>C	p.Met564Thr	p.M564T	ENST00000263269	NM_000836.2	564	aTg/aCg	0	not done		probablydamaging	
KCNJ14		inserm.fr	GRCh37	19	48967947	48967947	+	synonymous_variant	Silent	SNP	T	C	C			CHC1611T																					ENST00000391884.1:c.1224T>C	p.Thr408=	p.T408=	ENST00000391884		408	acT/acC	0	not done		synonymous	
GPKOW		inserm.fr	GRCh37	X	48974070	48974070	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1594T																					ENST00000156109.5:c.661T>G	p.Ser221Ala	p.S221A	ENST00000156109	NM_015698.4	221	Tcc/Gcc	0	not done		benign	
LPAR6		inserm.fr	GRCh37	13	48986075	48986075	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2206T																					ENST00000378434.4:c.485A>G	p.Asn162Ser	p.N162S	ENST00000378434	NM_005767.5	162	aAc/aGc	0	not done		benign	
SPAG9		inserm.fr	GRCh37	17	49064593	49064593	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM723T																					ENST00000262013.7:c.2819A>G	p.Asp940Gly	p.D940G	ENST00000262013	NM_001130528.2	940	gAc/gGc	0	validated		benign	
RCBTB2		inserm.fr	GRCh37	13	49077046	49077046	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC205T																					ENST00000344532.3:c.931A>G	p.Ile311Val	p.I311V	ENST00000344532	NM_001268.2	311	Atc/Gtc	0	validated		benign	
CEP152		inserm.fr	GRCh37	15	49090215	49090215	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC917T																					ENST00000380950.2:c.121A>G	p.Met41Val	p.M41V	ENST00000380950	NM_001194998.1	41	Atg/Gtg	0	validated		probablydamaging	
SHC4		inserm.fr	GRCh37	15	49135633	49135633	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC902T																					ENST00000332408.4:c.1456C>G	p.Pro486Ala	p.P486A	ENST00000332408	NM_203349.3	486	Cca/Gca	0	not done		benign	
SHC4		inserm.fr	GRCh37	15	49143401	49143401	+	synonymous_variant	Silent	SNP	T	C	C			CHC793T																					ENST00000332408.4:c.1287A>G	p.Glu429=	p.E429=	ENST00000332408	NM_203349.3	429	gaA/gaG	0	validated		synonymous	
USP19		inserm.fr	GRCh37	3	49155467	49155467	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM489T																					ENST00000434032.2:c.211A>G	p.Ile71Val	p.I71V	ENST00000434032	NM_001199160.1	71	Atc/Gtc	0	validated		benign	
NTN5		inserm.fr	GRCh37	19	49165157	49165157	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1060T																					ENST00000270235.4:c.1247T>G	p.Leu416Arg	p.L416R	ENST00000270235	NM_145807.1	416	cTg/cGg	0	validated		probablydamaging	
CCDC71		inserm.fr	GRCh37	3	49201459	49201459	+	synonymous_variant	Silent	SNP	T	C	C			CHC304T																					ENST00000321895.6:c.183A>G	p.Gln61=	p.Q61=	ENST00000321895	NM_022903.3	61	caA/caG	0	validated		synonymous	
MAMSTR		inserm.fr	GRCh37	19	49222259	49222259	+	synonymous_variant	Silent	SNP	G	C	C			CHC2052T																					ENST00000318083.6:c.30C>G	p.Ser10=	p.S10=	ENST00000318083		10	tcC/tcG	0	not done		synonymous	
FGF21		inserm.fr	GRCh37	19	49259552	49259552	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM683T																					ENST00000593756.1:c.59G>C	p.Gly20Ala	p.G20A	ENST00000593756		20	gGt/gCt	0	validated		benign	
MBTD1		inserm.fr	GRCh37	17	49284290	49284290	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1201T																					ENST00000586178.1:c.563C>G	p.Pro188Arg	p.P188R	ENST00000586178	NM_017643.2	188	cCt/cGt	0	not done		possiblydamaging	
OR51A7		inserm.fr	GRCh37	11	4928736	4928736	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1756T																					ENST00000359350.4:c.137T>C	p.Leu46Pro	p.L46P	ENST00000359350	NM_001004749.1	46	cTc/cCc	0	not done		probablydamaging	
FRMPD2		inserm.fr	GRCh37	10	49371691	49371691	+	synonymous_variant	Silent	SNP	T	C	C			CHC301T																					ENST00000374201.3:c.3561A>G	p.Lys1187=	p.K1187=	ENST00000374201	NM_001018071.3	1187	aaA/aaG	0	validated		synonymous	
PPP1R15A		inserm.fr	GRCh37	19	49377724	49377724	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM543T																					ENST00000200453.5:c.1234G>C	p.Asp412His	p.D412H	ENST00000200453	NM_014330.3	412	Gat/Cat	0	validated		probablydamaging	
C16orf78		inserm.fr	GRCh37	16	49407854	49407854	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1629T																					ENST00000299191.3:c.4T>C	p.Ser2Pro	p.S2P	ENST00000299191	NM_144602.2	2	Tca/Cca	0	not done		possiblydamaging	
MLL2		inserm.fr	GRCh37	12	49420350	49420350	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM759T																					ENST00000301067.7:c.15399T>G	p.Cys5133Trp	p.C5133W	ENST00000301067	NM_003482.3	5133	tgT/tgG	0	validated		probablydamaging	
MLL2		inserm.fr	GRCh37	12	49444282	49444282	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2103T																					ENST00000301067.7:c.3089A>G	p.His1030Arg	p.H1030R	ENST00000301067	NM_003482.3	1030	cAt/cGt	0	not done		benign	
ADNP		inserm.fr	GRCh37	20	49509497	49509497	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2115T																					ENST00000396029.3:c.1754A>G	p.Asn585Ser	p.N585S	ENST00000396029	NM_015339.2	585	aAt/aGt	0	not done		possiblydamaging	
KCNA7		inserm.fr	GRCh37	19	49575488	49575488	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1052T																					ENST00000221444.1:c.355C>G	p.Pro119Ala	p.P119A	ENST00000221444	NM_031886.2	119	Ccc/Gcc	0	validated		benign	
MADCAM1		inserm.fr	GRCh37	19	496505	496505	+	synonymous_variant	Silent	SNP	T	C	C			CHC909T																					ENST00000215637.3:c.6T>C	p.Asp2=	p.D2=	ENST00000215637	NM_130760.2	2	gaT/gaC	0	not done		synonymous	
PCDH11Y		inserm.fr	GRCh37	Y	4968081	4968081	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC734T																					ENST00000362095.5:c.2462G>C	p.Ser821Thr	p.S821T	ENST00000362095	NM_032972.2	821	aGc/aCc	0	validated		benign	
APEH		inserm.fr	GRCh37	3	49719163	49719163	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC909T																					ENST00000296456.5:c.1447G>C	p.Asp483His	p.D483H	ENST00000296456	NM_001640.3	483	Gac/Cac	0	not done		probablydamaging	
MST1		inserm.fr	GRCh37	3	49721862	49721862	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1712T																					ENST00000449682.2:c.1901A>G	p.Asn634Ser	p.N634S	ENST00000449682	NM_020998.3	634	aAt/aGt	0	not done		probablydamaging	
EXOC2		inserm.fr	GRCh37	6	497483	497483	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC796T																					ENST00000230449.4:c.2443A>G	p.Thr815Ala	p.T815A	ENST00000230449	NM_018303.5	815	Acc/Gcc	0	validated		benign	
OR51A2		inserm.fr	GRCh37	11	4976175	4976175	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1530T																					ENST00000380371.1:c.769A>G	p.Ile257Val	p.I257V	ENST00000380371	NM_001004748.1	257	Atc/Gtc	0	not done		benign	
FAM227B		inserm.fr	GRCh37	15	49800425	49800425	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM723T																					ENST00000299338.6:c.995A>G	p.Gln332Arg	p.Q332R	ENST00000299338	NM_152647.2	332	cAa/cGa	0	validated		probablydamaging	
SNAI2		inserm.fr	GRCh37	8	49831458	49831458	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC917T																					ENST00000396822.1:c.715A>G	p.Lys239Glu	p.K239E	ENST00000396822		239	Aag/Gag	0	validated		possiblydamaging	
FAM227B		inserm.fr	GRCh37	15	49880220	49880220	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2099T																					ENST00000299338.6:c.398A>G	p.Lys133Arg	p.K133R	ENST00000299338	NM_152647.2	133	aAg/aGg	0	not done		probablydamaging	
CCDC155		inserm.fr	GRCh37	19	49897749	49897749	+	synonymous_variant	Silent	SNP	G	C	C			BCM397T																					ENST00000447857.3:c.60G>C	p.Arg20=	p.R20=	ENST00000447857	NM_144688.4	20	cgG/cgC	0	validated		synonymous	
MON1A		inserm.fr	GRCh37	3	49948209	49948209	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1725T																					ENST00000296473.3:c.1013A>G	p.Tyr338Cys	p.Y338C	ENST00000296473	NM_032355.3	338	tAc/tGc	0	not done		probablydamaging	
ALDH16A1		inserm.fr	GRCh37	19	49961818	49961818	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC879T																					ENST00000293350.4:c.166T>C	p.Ser56Pro	p.S56P	ENST00000293350	NM_153329.3	56	Tca/Cca	0	not done		benign	
OR4C12		inserm.fr	GRCh37	11	50003880	50003880	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1749T																					ENST00000335238.4:c.158T>G	p.Leu53Arg	p.L53R	ENST00000335238	NM_001005270.2	53	cTg/cGg	0	not done		probablydamaging	
SETDB2		inserm.fr	GRCh37	13	50051042	50051042	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1205T																					ENST00000317257.8:c.772T>C	p.Cys258Arg	p.C258R	ENST00000317257	NM_031915.2	258	Tgt/Cgt	0	not done		probablydamaging	
LRR1		inserm.fr	GRCh37	14	50074550	50074550	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2110Tbis																					ENST00000298288.6:c.715A>C	p.Lys239Gln	p.K239Q	ENST00000298288	NM_152329.3	239	Aag/Cag	0	not done		benign	
NFATC2		inserm.fr	GRCh37	20	50092128	50092128	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM695T																					ENST00000396009.3:c.1402C>G	p.Leu468Val	p.L468V	ENST00000396009	NM_001258297.1	468	Ctt/Gtt	0	validated		probablydamaging	
SEC14L5		inserm.fr	GRCh37	16	5009365	5009365	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1209T																					ENST00000251170.7:c.41A>C	p.Tyr14Ser	p.Y14S	ENST00000251170	NM_014692.1	14	tAc/tCc	0	not done		possiblydamaging	
RCBTB1		inserm.fr	GRCh37	13	50126417	50126417	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2127T																					ENST00000378302.2:c.608A>G	p.Tyr203Cys	p.Y203C	ENST00000378302	NM_018191.3	203	tAt/tGt	0	not done		probablydamaging	
DGKK		inserm.fr	GRCh37	X	50127184	50127184	+	non_coding_transcript_exon_variant	RNA	SNP	T	C	C			CHC1756T																					ENST00000376025.2:n.2591A>G		*864*	ENST00000376025				0	not done		probablydamaging	
DGKK		inserm.fr	GRCh37	X	50129546	50129546	+	non_coding_transcript_exon_variant	RNA	SNP	A	C	C			CHC465T									Valid												ENST00000376025.2:n.2217T>G		*739*	ENST00000376025				0	validated		probablydamaging	
NFATC2		inserm.fr	GRCh37	20	50140575	50140575	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1205T																					ENST00000396009.3:c.205C>G	p.Leu69Val	p.L69V	ENST00000396009	NM_001258297.1	69	Ctc/Gtc	0	not done		probablydamaging	
RCBTB1		inserm.fr	GRCh37	13	50141355	50141355	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC326T																					ENST00000378302.2:c.61A>G	p.Ile21Val	p.I21V	ENST00000378302	NM_018191.3	21	Att/Gtt	0	validated		benign	
BRD1		inserm.fr	GRCh37	22	50187740	50187740	+	synonymous_variant	Silent	SNP	T	C	C			CHC1626T																					ENST00000216267.8:c.2301A>G	p.Pro767=	p.P767=	ENST00000216267	NM_014577.1	767	ccA/ccG	0	not done		synonymous	
CPT1C		inserm.fr	GRCh37	19	50204789	50204789	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2052T																					ENST00000392518.4:c.591G>C	p.Glu197Asp	p.E197D	ENST00000392518	NM_001199752.1	197	gaG/gaC	0	not done		benign	
GNAI2		inserm.fr	GRCh37	3	50290615	50290615	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC155T									Valid												ENST00000313601.6:c.463T>C	p.Tyr155His	p.Y155H	ENST00000313601	NM_002070.2	155	Tac/Cac	0	validated		probablydamaging	
NEMF		inserm.fr	GRCh37	14	50295058	50295058	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC205T									Valid												ENST00000298310.5:c.1439A>G	p.Lys480Arg	p.K480R	ENST00000298310		480	aAg/aGg	0	validated		probablydamaging	
NEMF		inserm.fr	GRCh37	14	50304914	50304914	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1148T																					ENST00000298310.5:c.517A>G	p.Ile173Val	p.I173V	ENST00000298310		173	Ata/Gta	0	not done		benign	
NEMF		inserm.fr	GRCh37	14	50318552	50318552	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1629T																					ENST00000298310.5:c.101A>G	p.Asn34Ser	p.N34S	ENST00000298310		34	aAt/aGt	0	not done		benign	
C3orf45		inserm.fr	GRCh37	3	50324207	50324207	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2048T																					ENST00000316436.3:c.275T>C	p.Val92Ala	p.V92A	ENST00000316436	NM_153215.1	92	gTg/gCg	0	not done		benign	
SHROOM4		inserm.fr	GRCh37	X	50350843	50350843	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1602T																					ENST00000376020.2:c.3299C>G	p.Pro1100Arg	p.P1100R	ENST00000376020	NM_020717.3	1100	cCt/cGt	0	not done		probablydamaging	
BRD7		inserm.fr	GRCh37	16	50357570	50357570	+	stop_gained	Nonsense_Mutation	SNP	A	C	C			CHC1738T																					ENST00000394689.2:c.1371T>G	p.Tyr457Ter	p.Y457*	ENST00000394689	NM_001173984.2	457	taT/taG	0	not done		damaging	
PNKP		inserm.fr	GRCh37	19	50365855	50365855	+	synonymous_variant	Silent	SNP	T	C	C			CHC1185T																					ENST00000322344.3:c.876A>G	p.Gly292=	p.G292=	ENST00000322344	NM_007254.3	292	ggA/ggG	0	validated		synonymous	
AQP6		inserm.fr	GRCh37	12	50368241	50368241	+	synonymous_variant	Silent	SNP	T	C	C			CHC1746T																					ENST00000315520.5:c.537T>C	p.Ser179=	p.S179=	ENST00000315520	NM_001652.3	179	tcT/tcC	0	not done		synonymous	
KDM4B		inserm.fr	GRCh37	19	5039902	5039902	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC794T																					ENST00000159111.4:c.197T>C	p.Val66Ala	p.V66A	ENST00000159111	NM_015015.2	66	gTg/gCg	0	validated		benign	
AKR1C2		inserm.fr	GRCh37	10	5042772	5042772	+	synonymous_variant	Silent	SNP	G	C	C			CHC1192T																					ENST00000380753.4:c.339C>G	p.Leu113=	p.L113=	ENST00000380753	NM_205845.2	113	ctC/ctG	0	not done		synonymous	
TTLL8		inserm.fr	GRCh37	22	50468905	50468905	+	synonymous_variant	Silent	SNP	G	C	C			CHC2103T																					ENST00000433387.1:c.2205C>G	p.Gly735=	p.G735=	ENST00000433387		735	ggC/ggG	0	not done		synonymous	
LIMA1		inserm.fr	GRCh37	12	50598400	50598400	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1531T																					ENST00000394943.3:c.799A>G	p.Ile267Val	p.I267V	ENST00000394943		267	Ata/Gta	0	not done		probablydamaging	
PANX2		inserm.fr	GRCh37	22	50616264	50616264	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM321T																					ENST00000395842.2:c.1123T>C	p.Tyr375His	p.Y375H	ENST00000395842	NM_052839.3	375	Tac/Cac	0	validated		probablydamaging	
SELO		inserm.fr	GRCh37	22	50644787	50644787	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM689T									Valid												ENST00000380903.2:c.596A>C	p.Glu199Ala	p.E199A	ENST00000380903	NM_031454.1	199	gAg/gCg	0	validated		probablydamaging	
TUBGCP6		inserm.fr	GRCh37	22	50660253	50660253	+	synonymous_variant	Silent	SNP	A	C	C			BCM759T																					ENST00000248846.5:c.2535T>G	p.Ser845=	p.S845=	ENST00000248846		845	tcT/tcG	0	validated		synonymous	
ERCC6		inserm.fr	GRCh37	10	50666942	50666942	+	synonymous_variant	Silent	SNP	T	C	C			CHC703T																					ENST00000355832.5:c.4401A>G	p.Arg1467=	p.R1467=	ENST00000355832	NM_000124.3	1467	cgA/cgG	0	not done		synonymous	
MAPKAPK3		inserm.fr	GRCh37	3	50683630	50683630	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC879T																					ENST00000446044.1:c.764A>C	p.Lys255Thr	p.K255T	ENST00000446044	NM_001243926.1	255	aAg/aCg	0	not done		possiblydamaging	
DCC		inserm.fr	GRCh37	18	50683796	50683796	+	synonymous_variant	Silent	SNP	T	C	C			BCM723T																					ENST00000442544.2:c.1332T>C	p.Phe444=	p.F444=	ENST00000442544	NM_005215.3	444	ttT/ttC	0	validated		synonymous	
OR52J3		inserm.fr	GRCh37	11	5068492	5068492	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2110Tbis																					ENST00000380370.1:c.737T>C	p.Val246Ala	p.V246A	ENST00000380370	NM_001001916.2	246	gTt/gCt	0	not done		benign	
OR52J3		inserm.fr	GRCh37	11	5068594	5068594	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1629T																					ENST00000380370.1:c.839T>C	p.Leu280Pro	p.L280P	ENST00000380370	NM_001001916.2	280	cTc/cCc	0	not done		probablydamaging	
MAPK12		inserm.fr	GRCh37	22	50693926	50693926	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC304T																					ENST00000215659.8:c.806A>G	p.Glu269Gly	p.E269G	ENST00000215659	NM_002969.3	269	gAg/gGg	0	validated		benign	
NRXN1		inserm.fr	GRCh37	2	50699555	50699555	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1209T																					ENST00000404971.1:c.3245T>G	p.Leu1082Arg	p.L1082R	ENST00000404971	NM_001135659.1	1082	cTt/cGt	0	not done		probablydamaging	
ZFP64		inserm.fr	GRCh37	20	50701639	50701639	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC465T																					ENST00000361387.2:c.1395C>G	p.His465Gln	p.H465Q	ENST00000361387	NM_199427.2	465	caC/caG	0	validated		probablydamaging	
PLXNB2		inserm.fr	GRCh37	22	50717101	50717101	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM371T																					ENST00000449103.1:c.4571A>G	p.Gln1524Arg	p.Q1524R	ENST00000449103		1524	cAg/cGg	0	validated		probablydamaging	
PGBD3		inserm.fr	GRCh37	10	50724089	50724089	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC218T																					ENST00000374127.3:c.1072A>G	p.Ile358Val	p.I358V	ENST00000374127	NM_170753.3	358	Att/Gtt	0	validated		benign	
PLXNB2		inserm.fr	GRCh37	22	50727239	50727239	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB111T																					ENST00000449103.1:c.1313A>G	p.Lys438Arg	p.K438R	ENST00000449103		438	aAg/aGg	0	validated		probablydamaging	
ZFP64		inserm.fr	GRCh37	20	50803536	50803536	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC429T																					ENST00000216923.4:c.121A>G	p.Asn41Asp	p.N41D	ENST00000216923	NM_199426.1	41	Aac/Gac	0	validated		possiblydamaging	
SLC18A3		inserm.fr	GRCh37	10	50819565	50819565	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2200T																					ENST00000374115.3:c.779T>C	p.Leu260Pro	p.L260P	ENST00000374115	NM_003055.2	260	cTg/cCg	0	not done		probablydamaging	
USP50		inserm.fr	GRCh37	15	50835801	50835801	+	synonymous_variant	Silent	SNP	T	C	C			BCM265T																					ENST00000532404.1:c.438A>G	p.Leu146=	p.L146=	ENST00000532404	NM_203494.4	146	ctA/ctG	0	validated		synonymous	
ZNF594		inserm.fr	GRCh37	17	5085545	5085545	+	synonymous_variant	Silent	SNP	T	C	C			CHC1594T																					ENST00000399604.4:c.2007A>G	p.Thr669=	p.T669=	ENST00000399604		669	acA/acG	0	not done		synonymous	
TRPM7		inserm.fr	GRCh37	15	50885859	50885859	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC703T																					ENST00000313478.7:c.3563A>G	p.Lys1188Arg	p.K1188R	ENST00000313478	NM_017672.4	1188	aAa/aGa	0	validated		possiblydamaging	
C10orf53		inserm.fr	GRCh37	10	50887762	50887762	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM321T																					ENST00000374112.3:c.19G>C	p.Val7Leu	p.V7L	ENST00000374112	NM_182554.2	7	Gtc/Ctc	0	validated		probablydamaging	
MIOX		inserm.fr	GRCh37	22	50926358	50926358	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2208T																					ENST00000216075.6:c.221T>C	p.Met74Thr	p.M74T	ENST00000216075	NM_017584.5	74	aTg/aCg	0	not done		probablydamaging	
LMF2		inserm.fr	GRCh37	22	50944629	50944629	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1154T																					ENST00000474879.2:c.609C>G	p.His203Gln	p.H203Q	ENST00000474879	NM_033200.2	203	caC/caG	0	not done		probablydamaging	
CHKB		inserm.fr	GRCh37	22	51020694	51020694	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC429T									Valid												ENST00000406938.2:c.317A>G	p.Tyr106Cys	p.Y106C	ENST00000406938	NM_005198.4	106	tAc/tGc	0	validated		probablydamaging	
CHKB		inserm.fr	GRCh37	22	51020695	51020695	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC429T									Valid												ENST00000406938.2:c.316T>G	p.Tyr106Asp	p.Y106D	ENST00000406938	NM_005198.4	106	Tac/Gac	0	validated		probablydamaging	
FAF1		inserm.fr	GRCh37	1	51032888	51032888	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2216T																					ENST00000396153.2:c.1129A>G	p.Ile377Val	p.I377V	ENST00000396153	NM_007051.2	377	Atc/Gtc	0	not done		probablydamaging	
NUDT10		inserm.fr	GRCh37	X	51076035	51076035	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2351T																					ENST00000376006.3:c.218A>C	p.Lys73Thr	p.K73T	ENST00000376006	NM_153183.2	73	aAg/aCg	0	not done		benign	
DIP2B		inserm.fr	GRCh37	12	51118629	51118629	+	synonymous_variant	Silent	SNP	A	C	C			CHC912T																					ENST00000301180.5:c.3360A>C	p.Ala1120=	p.A1120=	ENST00000301180	NM_173602.2	1120	gcA/gcC	0	validated		synonymous	
SALL1		inserm.fr	GRCh37	16	51174008	51174008	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1603T																					ENST00000251020.4:c.2125A>G	p.Ile709Val	p.I709V	ENST00000251020	NM_002968.2	709	Atc/Gtc	0	not done		benign	
SHANK1		inserm.fr	GRCh37	19	51200864	51200864	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1600T									Valid												ENST00000293441.1:c.1919A>G	p.Asp640Gly	p.D640G	ENST00000293441	NM_016148.2	640	gAc/gGc	0	validated		probablydamaging	
DOCK3		inserm.fr	GRCh37	3	51263084	51263084	+	synonymous_variant	Silent	SNP	T	C	C			CHC879T																					ENST00000266037.9:c.1257T>C	p.Asp419=	p.D419=	ENST00000266037	NM_004947.4	419	gaT/gaC	0	not done		synonymous	
PYGL		inserm.fr	GRCh37	14	51378727	51378727	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1209T																					ENST00000216392.7:c.1796T>G	p.Phe599Cys	p.F599C	ENST00000216392	NM_002863.4	599	tTc/tGc	0	not done		benign	
PYGL		inserm.fr	GRCh37	14	51387307	51387307	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1616T																					ENST00000216392.7:c.807C>G	p.Asp269Glu	p.D269E	ENST00000216392	NM_002863.4	269	gaC/gaG	0	not done		benign	
VPRBP		inserm.fr	GRCh37	3	51466900	51466900	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1207T																					ENST00000423656.1:c.203A>G	p.Asn68Ser	p.N68S	ENST00000423656		68	aAt/aGt	0	not done		probablydamaging	
KLK13		inserm.fr	GRCh37	19	51563284	51563284	+	synonymous_variant	Silent	SNP	T	C	C			CHC059T																					ENST00000595793.1:c.306A>G	p.Glu102=	p.E102=	ENST00000595793	NM_015596.1	102	gaA/gaG	0	validated		synonymous	
C1orf185		inserm.fr	GRCh37	1	51613182	51613182	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC451T																					ENST00000371759.2:c.339A>C	p.Lys113Asn	p.K113N	ENST00000371759	NM_001136508.1	113	aaA/aaC	0	validated		benign	
STK32B		inserm.fr	GRCh37	4	5170078	5170078	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC902T																					ENST00000282908.5:c.161T>C	p.Met54Thr	p.M54T	ENST00000282908	NM_018401.1	54	aTg/aCg	0	not done		probablydamaging	
PKHD1		inserm.fr	GRCh37	6	51892978	51892978	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM399T									Valid												ENST00000371117.3:c.3536A>G	p.Asn1179Ser	p.N1179S	ENST00000371117	NM_138694.3	1179	aAt/aGt	0	validated		possiblydamaging	
PKHD1		inserm.fr	GRCh37	6	51900439	51900439	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2052T																					ENST00000371117.3:c.3178A>G	p.Asn1060Asp	p.N1060D	ENST00000371117	NM_138694.3	1060	Aat/Gat	0	not done		benign	
SERPINE3		inserm.fr	GRCh37	13	51921312	51921312	+	synonymous_variant	Silent	SNP	T	C	C			CHC1137T																					ENST00000521255.1:c.642T>C	p.Cys214=	p.C214=	ENST00000521255	NM_001101320.1	214	tgT/tgC	0	not done		synonymous	
PKHD1		inserm.fr	GRCh37	6	51930875	51930875	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			BCB301T									Valid												ENST00000371117.3:c.779A>G	p.Glu260Gly	p.E260G	ENST00000371117	NM_138694.3	260	gAa/gGa	0	validated		probablydamaging	
SIGLEC8		inserm.fr	GRCh37	19	51955889	51955889	+	splice_acceptor_variant	Splice_Site	SNP	T	C	C			CHC1055T									Valid												ENST00000321424.3:c.1246-2A>G		p.X416_splice	ENST00000321424	NM_014442.2			0	validated		damaging	
RRP9		inserm.fr	GRCh37	3	51968542	51968542	+	synonymous_variant	Silent	SNP	A	C	C			CHC306T																					ENST00000232888.6:c.1206T>G	p.Leu402=	p.L402=	ENST00000232888	NM_004704.4	402	ctT/ctG	0	validated		synonymous	
PCBP4		inserm.fr	GRCh37	3	51993971	51993971	+	synonymous_variant	Silent	SNP	T	C	C			CHC433T																					ENST00000461554.1:c.456A>G	p.Val152=	p.V152=	ENST00000461554	NM_001174100.1	152	gtA/gtG	0	validated		synonymous	
SGMS1		inserm.fr	GRCh37	10	52067818	52067818	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC304T									Valid												ENST00000361781.2:c.986A>G	p.Tyr329Cys	p.Y329C	ENST00000361781	NM_147156.3	329	tAc/tGc	0	validated		probablydamaging	
SGMS1		inserm.fr	GRCh37	10	52103814	52103814	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1600T																					ENST00000361781.2:c.61A>G	p.Met21Val	p.M21V	ENST00000361781	NM_147156.3	21	Atg/Gtg	0	not done		benign	
MCM3		inserm.fr	GRCh37	6	52141975	52141975	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM399T									Valid												ENST00000596288.1:c.1190C>G	p.Ser397Cys	p.S397C	ENST00000596288	NM_002388.4	397	tCt/tGt	0	validated		probablydamaging	
ARL8B		inserm.fr	GRCh37	3	5214362	5214362	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2358T																					ENST00000256496.3:c.309G>C	p.Lys103Asn	p.K103N	ENST00000256496	NM_018184.2	103	aaG/aaC	0	validated		probablydamaging	
ZNF217		inserm.fr	GRCh37	20	52192568	52192568	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2202T																					ENST00000371471.2:c.2735T>G	p.Phe912Cys	p.F912C	ENST00000371471		912	tTt/tGt	0	not done		possiblydamaging	
HAS1		inserm.fr	GRCh37	19	52217194	52217194	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2098T																					ENST00000222115.1:c.1223C>G	p.Ser408Cys	p.S408C	ENST00000222115	NM_001523.2	408	tCc/tGc	0	not done		probablydamaging	
ANKRD33		inserm.fr	GRCh37	12	52283259	52283259	+	synonymous_variant	Silent	SNP	G	C	C			CHC796T																					ENST00000301190.6:c.630G>C	p.Arg210=	p.R210=	ENST00000301190	NM_001130015.1	210	cgG/cgC	0	validated		synonymous	
PXDNL		inserm.fr	GRCh37	8	52321002	52321002	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM723T																					ENST00000356297.4:c.3182A>G	p.Asn1061Ser	p.N1061S	ENST00000356297	NM_144651.4	1061	aAt/aGt	0	validated		probablydamaging	
PXDNL		inserm.fr	GRCh37	8	52321735	52321735	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM783T																					ENST00000356297.4:c.2449A>G	p.Thr817Ala	p.T817A	ENST00000356297	NM_144651.4	817	Aca/Gca	0	validated		benign	
PXDNL		inserm.fr	GRCh37	8	52322066	52322066	+	synonymous_variant	Silent	SNP	T	C	C			CHC1700T																					ENST00000356297.4:c.2118A>G	p.Leu706=	p.L706=	ENST00000356297	NM_144651.4	706	ttA/ttG	0	not done		synonymous	
ITGA2		inserm.fr	GRCh37	5	52367791	52367791	+	synonymous_variant	Silent	SNP	T	C	C			CHC896T																					ENST00000296585.5:c.2259T>C	p.Ser753=	p.S753=	ENST00000296585	NM_002203.3	753	tcT/tcC	0	not done		synonymous	
ITGA2		inserm.fr	GRCh37	5	52377439	52377439	+	synonymous_variant	Silent	SNP	T	C	C			BCM545T																					ENST00000296585.5:c.3057T>C	p.Cys1019=	p.C1019=	ENST00000296585	NM_002203.3	1019	tgT/tgC	0	validated		synonymous	
NR4A1		inserm.fr	GRCh37	12	52451267	52451267	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC469T									Valid												ENST00000360284.3:c.1532T>C	p.Val511Ala	p.V511A	ENST00000360284	NM_001202233.1	511	gTc/gCc	0	validated		possiblydamaging	
PXDNL		inserm.fr	GRCh37	8	52469406	52469406	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2048T																					ENST00000356297.4:c.374A>G	p.Glu125Gly	p.E125G	ENST00000356297	NM_144651.4	125	gAa/gGa	0	not done		probablydamaging	
ZNF432		inserm.fr	GRCh37	19	52537268	52537268	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC320T									Valid												ENST00000594154.1:c.1664A>G	p.Tyr555Cys	p.Y555C	ENST00000594154		555	tAt/tGt	0	validated		probablydamaging	
ZNF432		inserm.fr	GRCh37	19	52538193	52538193	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC879T																					ENST00000594154.1:c.739A>G	p.Arg247Gly	p.R247G	ENST00000594154		247	Agg/Ggg	0	not done		probablydamaging	
STAB1		inserm.fr	GRCh37	3	52540864	52540864	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			BCM375T																					ENST00000321725.6:c.1987G>C	p.Ala663Pro	p.A663P	ENST00000321725	NM_015136.2	663	Gcg/Ccg	0	validated		benign	
ATP7B		inserm.fr	GRCh37	13	52548449	52548449	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2034T																					ENST00000242839.4:c.907C>G	p.Pro303Ala	p.P303A	ENST00000242839	NM_000053.3	303	Cct/Gct	0	not done		probablydamaging	
HBD	3045	inserm.fr	GRCh37	11	5255283	5255283	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1545T																					ENST00000380299.3:c.253A>G	p.Thr85Ala	p.T85A	ENST00000380299	NM_000519.3	85	Act/Gct	0	not done		benign	
RAB27B		inserm.fr	GRCh37	18	52556467	52556467	+	synonymous_variant	Silent	SNP	T	C	C			CHC794T																					ENST00000262094.5:c.480T>C	p.Phe160=	p.F160=	ENST00000262094	NM_004163.4	160	ttT/ttC	0	validated		synonymous	
A1CF		inserm.fr	GRCh37	10	52595897	52595897	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1745T																					ENST00000373995.3:c.565T>G	p.Phe189Val	p.F189V	ENST00000373995	NM_138933.2	189	Ttt/Gtt	0	not done		probablydamaging	
CCDC68		inserm.fr	GRCh37	18	52605330	52605330	+	splice_acceptor_variant	Splice_Site	SNP	T	C	C			CHC304T									Valid												ENST00000591504.1:c.205-2A>G		p.X69_splice	ENST00000591504	NM_025214.2			0	validated		damaging	
NEK5		inserm.fr	GRCh37	13	52686454	52686454	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC912T									Valid												ENST00000355568.4:c.262C>G	p.Leu88Val	p.L88V	ENST00000355568	NM_199289.1	88	Ctc/Gtc	0	validated		probablydamaging	
MYO5A		inserm.fr	GRCh37	15	52725386	52725386	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2358T																					ENST00000399231.3:c.124C>G	p.Leu42Val	p.L42V	ENST00000399231	NM_000259.3	42	Ctc/Gtc	0	validated		possiblydamaging	
MYO5A		inserm.fr	GRCh37	15	52725446	52725446	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2043T																					ENST00000399231.3:c.64T>G	p.Trp22Gly	p.W22G	ENST00000399231	NM_000259.3	22	Tgg/Ggg	0	not done		probablydamaging	
NEK3		inserm.fr	GRCh37	13	52726792	52726792	+	synonymous_variant	Silent	SNP	T	C	C			BCB151T																					ENST00000400357.2:c.345A>G	p.Val115=	p.V115=	ENST00000400357		115	gtA/gtG	0	validated		synonymous	
KRT84		inserm.fr	GRCh37	12	52774295	52774295	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1192T																					ENST00000257951.3:c.1276A>G	p.Lys426Glu	p.K426E	ENST00000257951	NM_033045.3	426	Aag/Gag	0	not done		probablydamaging	
DCUN1D4		inserm.fr	GRCh37	4	52779518	52779518	+	synonymous_variant	Silent	SNP	A	C	C			BCM489T																					ENST00000334635.5:c.783A>C	p.Thr261=	p.T261=	ENST00000334635	NM_001040402.1	261	acA/acC	0	validated		synonymous	
DCUN1D4		inserm.fr	GRCh37	4	52779554	52779554	+	synonymous_variant	Silent	SNP	A	C	C			BCM759T																					ENST00000334635.5:c.819A>C	p.Gly273=	p.G273=	ENST00000334635	NM_001040402.1	273	ggA/ggC	0	validated		synonymous	
ZNF480		inserm.fr	GRCh37	19	52824851	52824851	+	synonymous_variant	Silent	SNP	A	C	C			CHC1745T																					ENST00000595962.1:c.348A>C	p.Gly116=	p.G116=	ENST00000595962	NM_144684.2	116	ggA/ggC	0	not done		synonymous	
GSTA4		inserm.fr	GRCh37	6	52850298	52850298	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1597T																					ENST00000370963.4:c.223A>G	p.Ile75Val	p.I75V	ENST00000370963	NM_001512.3	75	Ata/Gta	0	not done		benign	
KRT6C		inserm.fr	GRCh37	12	52867416	52867416	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1137T																					ENST00000252250.6:c.106A>G	p.Ile36Val	p.I36V	ENST00000252250	NM_173086.4	36	Atc/Gtc	0	not done		benign	
ZNF610		inserm.fr	GRCh37	19	52869309	52869309	+	synonymous_variant	Silent	SNP	T	C	C			CHC1534T																					ENST00000403906.3:c.678T>C	p.His226=	p.H226=	ENST00000403906	NM_001161425.1	226	caT/caC	0	validated		synonymous	
SFMBT1		inserm.fr	GRCh37	3	52941110	52941110	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2098T																					ENST00000394752.3:c.2306A>G	p.Asp769Gly	p.D769G	ENST00000394752	NM_016329.3	769	gAt/gGt	0	not done		benign	
ZNF534		inserm.fr	GRCh37	19	52942621	52942621	+	synonymous_variant	Silent	SNP	T	C	C			CHC1207T																					ENST00000332323.6:c.1947T>C	p.Cys649=	p.C649=	ENST00000332323	NM_001143939.1	649	tgT/tgC	0	not done		synonymous	
VPS36		inserm.fr	GRCh37	13	53001172	53001172	+	synonymous_variant	Silent	SNP	T	C	C			BCM735T																					ENST00000378060.4:c.591A>G	p.Ser197=	p.S197=	ENST00000378060	NM_016075.2	197	tcA/tcG	0	validated		synonymous	
ST18		inserm.fr	GRCh37	8	53028920	53028920	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC798T									Valid												ENST00000276480.7:c.2918A>G	p.Gln973Arg	p.Q973R	ENST00000276480	NM_014682.2	973	cAg/cGg	0	validated		probablydamaging	
KRT2		inserm.fr	GRCh37	12	53039107	53039107	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1700T																					ENST00000309680.3:c.1616A>G	p.Tyr539Cys	p.Y539C	ENST00000309680	NM_000423.2	539	tAt/tGt	0	not done		benign	
CKAP2		inserm.fr	GRCh37	13	53049243	53049243	+	synonymous_variant	Silent	SNP	G	C	C			CHC432T																					ENST00000378037.5:c.2019G>C	p.Leu673=	p.L673=	ENST00000378037	NM_018204.3	673	ctG/ctC	0	not done		synonymous	
ZNF808		inserm.fr	GRCh37	19	53058297	53058297	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1182T																					ENST00000359798.4:c.2128A>C	p.Asn710His	p.N710H	ENST00000359798	NM_001039886.3	710	Aat/Cat	0	not done		probablydamaging	
GPR173		inserm.fr	GRCh37	X	53106471	53106471	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM423T																					ENST00000332582.4:c.668T>C	p.Val223Ala	p.V223A	ENST00000332582	NM_018969.5	223	gTg/gCg	0	validated		probablydamaging	
KRT79		inserm.fr	GRCh37	12	53218088	53218088	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC961T									Valid												ENST00000330553.5:c.914A>G	p.Asn305Ser	p.N305S	ENST00000330553	NM_175834.2	305	aAc/aGc	0	validated		probablydamaging	
KDM5C		inserm.fr	GRCh37	X	53222686	53222686	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM371T																					ENST00000375401.3:c.4250A>G	p.His1417Arg	p.H1417R	ENST00000375401	NM_004187.3	1417	cAc/cGc	0	validated		possiblydamaging	
ZYG11B		inserm.fr	GRCh37	1	53236749	53236749	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1209T																					ENST00000294353.6:c.254G>C	p.Arg85Pro	p.R85P	ENST00000294353	NM_024646.2	85	cGa/cCa	0	not done		probablydamaging	
TCF4		inserm.fr	GRCh37	18	53303016	53303016	+	stop_gained	Nonsense_Mutation	SNP	G	C	C			CHC1598T																					ENST00000398339.1:c.113C>G	p.Ser38Ter	p.S38*	ENST00000398339	NM_001243226.1	38	tCa/tGa	0	not done		damaging	
GCLC		inserm.fr	GRCh37	6	53373399	53373399	+	synonymous_variant	Silent	SNP	T	C	C			CHC1751T																					ENST00000229416.6:c.939A>G	p.Gly313=	p.G313=	ENST00000229416	NM_001197115.1	313	ggA/ggG	0	not done		synonymous	
SLC29A4		inserm.fr	GRCh37	7	5342513	5342513	+	synonymous_variant	Silent	SNP	T	C	C			CHC1041T																					ENST00000396872.3:c.1536T>C	p.Ala512=	p.A512=	ENST00000396872		512	gcT/gcC	0	validated		synonymous	
EIF4B		inserm.fr	GRCh37	12	53433464	53433464	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1566T																					ENST00000262056.9:c.1733A>C	p.Lys578Thr	p.K578T	ENST00000262056	NM_001417.4	578	aAa/aCa	0	not done		possiblydamaging	
ZNF816		inserm.fr	GRCh37	19	53453752	53453752	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC884T									Valid												ENST00000357666.4:c.1276A>G	p.Lys426Glu	p.K426E	ENST00000357666	NM_001031665.2	426	Aaa/Gaa	0	validated		probablydamaging	
USP46		inserm.fr	GRCh37	4	53470735	53470735	+	synonymous_variant	Silent	SNP	T	C	C			CHC2099T																					ENST00000441222.3:c.654A>G	p.Thr218=	p.T218=	ENST00000441222	NM_022832.3	218	acA/acG	0	not done		synonymous	
TNRC18		inserm.fr	GRCh37	7	5352949	5352949	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1597T																					ENST00000430969.1:c.7573C>G	p.Leu2525Val	p.L2525V	ENST00000430969	NM_001080495.2	2525	Ctc/Gtc	0	validated		possiblydamaging	
PRKG1		inserm.fr	GRCh37	10	53564411	53564411	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1085T																					ENST00000373980.4:c.659G>C	p.Gly220Ala	p.G220A	ENST00000373980	NM_006258.3	220	gGa/gCa	0	validated		probablydamaging	
ZNF160		inserm.fr	GRCh37	19	53572562	53572562	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1534T																					ENST00000429604.1:c.1225C>G	p.Arg409Gly	p.R409G	ENST00000429604	NM_198893.2	409	Cgt/Ggt	0	validated		probablydamaging	
ZNF740		inserm.fr	GRCh37	12	53579851	53579851	+	synonymous_variant	Silent	SNP	T	C	C			CHC303T																					ENST00000416904.3:c.363T>C	p.Leu121=	p.L121=	ENST00000416904	NM_001004304.3	121	ctT/ctC	0	validated		synonymous	
HUWE1		inserm.fr	GRCh37	X	53581856	53581856	+	stop_gained	Nonsense_Mutation	SNP	G	C	C			CHC1061T									Valid												ENST00000342160.3:c.8232C>G	p.Tyr2744Ter	p.Y2744*	ENST00000342160		2744	taC/taG	0	validated		damaging	
OLFM4		inserm.fr	GRCh37	13	53608589	53608589	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC891T																					ENST00000219022.2:c.311T>C	p.Phe104Ser	p.F104S	ENST00000219022	NM_006418.4	104	tTc/tCc	0	not done		benign	
PLGRKT		inserm.fr	GRCh37	9	5361132	5361132	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2128T																					ENST00000223864.2:c.268A>G	p.Ile90Val	p.I90V	ENST00000223864	NM_018465.3	90	Atc/Gtc	0	not done		benign	
DDHD1		inserm.fr	GRCh37	14	53619053	53619053	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC205T									Valid												ENST00000323669.5:c.764A>G	p.Glu255Gly	p.E255G	ENST00000323669	NM_001160148.1	255	gAg/gGg	0	validated		probablydamaging	
RARG		inserm.fr	GRCh37	12	53621268	53621268	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1205T																					ENST00000425354.2:c.62C>G	p.Pro21Arg	p.P21R	ENST00000425354	NM_000966.5	21	cCa/cGa	0	not done		probablydamaging	
HUWE1		inserm.fr	GRCh37	X	53644075	53644075	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC429T									Valid												ENST00000342160.3:c.1813C>G	p.Pro605Ala	p.P605A	ENST00000342160		605	Cca/Gca	0	validated		probablydamaging	
LRP8		inserm.fr	GRCh37	1	53741360	53741360	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM759T																					ENST00000306052.6:c.949C>G	p.His317Asp	p.H317D	ENST00000306052	NM_004631.4	317	Cac/Gac	0	validated		probablydamaging	
HSPB3		inserm.fr	GRCh37	5	53751621	53751621	+	start_lost	Translation_Start_Site	SNP	T	C	C			CHC2048T																					ENST00000302005.1:c.2T>C	p.Met1?	p.M1?	ENST00000302005	NM_006308.2	1	aTg/aCg	0	not done		possiblydamaging	
PCBP2		inserm.fr	GRCh37	12	53853094	53853094	+	synonymous_variant	Silent	SNP	T	C	C			CHC2141T																					ENST00000359462.5:c.282T>C	p.Ser94=	p.S94=	ENST00000359462		94	agT/agC	0	not done		synonymous	
MAP3K12		inserm.fr	GRCh37	12	53880962	53880962	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM257T																					ENST00000547035.1:c.214C>G	p.Pro72Ala	p.P72A	ENST00000547035		72	Ccc/Gcc	0	validated			
ACTR8		inserm.fr	GRCh37	3	53908281	53908281	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1185T																					ENST00000335754.3:c.1022T>G	p.Leu341Arg	p.L341R	ENST00000335754	NM_022899.4	341	cTt/cGt	0	not done		benign	
ACTR8		inserm.fr	GRCh37	3	53911723	53911723	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1044T																					ENST00000335754.3:c.461A>G	p.Asn154Ser	p.N154S	ENST00000335754	NM_022899.4	154	aAt/aGt	0	not done		benign	
ASB3		inserm.fr	GRCh37	2	53927535	53927535	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2029T																					ENST00000352846.3:c.1225T>G	p.Leu409Val	p.L409V	ENST00000352846	NM_001164165.1	409	Ttg/Gtg	0	not done		benign	
ZNF761		inserm.fr	GRCh37	19	53952785	53952785	+	non_coding_transcript_exon_variant	RNA	SNP	T	C	C			CHC051T																					ENST00000454407.1:n.489T>C		*163*	ENST00000454407				0	validated		synonymous	
GLIS1		inserm.fr	GRCh37	1	54060324	54060324	+	synonymous_variant	Silent	SNP	G	C	C			CHC2213T																					ENST00000312233.2:c.252C>G	p.Ser84=	p.S84=	ENST00000312233	NM_147193.2	84	tcC/tcG	0	validated		synonymous	
ATP5G2		inserm.fr	GRCh37	12	54062972	54062972	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2034T																					ENST00000394349.3:c.442A>G	p.Ile148Val	p.I148V	ENST00000394349	NM_005176.5	148	Att/Gtt	0	not done		possiblydamaging	
EPB41L3		inserm.fr	GRCh37	18	5406876	5406876	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCB231T																					ENST00000341928.2:c.2249C>G	p.Ala750Gly	p.A750G	ENST00000341928	NM_012307.3	750	gCc/gGc	0	validated		possiblydamaging	
PHF8		inserm.fr	GRCh37	X	54069251	54069251	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC1044T																					ENST00000357988.5:c.19A>G	p.Ile7Val	p.I7V	ENST00000357988	NM_001184896.1	7	Atc/Gtc	0	not done		unknown	
PSME4		inserm.fr	GRCh37	2	54093918	54093918	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM275T									Valid												ENST00000404125.1:c.5363T>G	p.Leu1788Arg	p.L1788R	ENST00000404125	NM_014614.2	1788	cTc/cGc	0	validated		probablydamaging	
PSME4		inserm.fr	GRCh37	2	54147388	54147388	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2208T																					ENST00000404125.1:c.2362C>G	p.Leu788Val	p.L788V	ENST00000404125	NM_014614.2	788	Ctt/Gtt	0	not done		probablydamaging	
FIP1L1		inserm.fr	GRCh37	4	54248473	54248473	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM529T																					ENST00000337488.6:c.199G>C	p.Glu67Gln	p.E67Q	ENST00000337488	NM_030917.3	67	Gaa/Caa	0	validated			
NDC1		inserm.fr	GRCh37	1	54262728	54262728	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1182T																					ENST00000371429.3:c.1312T>G	p.Leu438Val	p.L438V	ENST00000371429	NM_001168551.1	438	Tta/Gta	0	not done		benign	
WNK3		inserm.fr	GRCh37	X	54319427	54319427	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T									Valid												ENST00000354646.2:c.1931T>G	p.Leu644Trp	p.L644W	ENST00000354646	NM_020922.4	644	tTg/tGg	0	validated		probablydamaging	
TUBAL3		inserm.fr	GRCh37	10	5436245	5436245	+	stop_gained	Nonsense_Mutation	SNP	A	C	C			BCM543T																					ENST00000380419.3:c.576T>G	p.Tyr192Ter	p.Y192*	ENST00000380419	NM_024803.2	192	taT/taG	0	validated		damaging	
MCIDAS		inserm.fr	GRCh37	5	54518026	54518026	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2052T																					ENST00000513312.1:c.584A>G	p.Asp195Gly	p.D195G	ENST00000513312	NM_001190787.1	195	gAc/gGc	0	validated			
VSTM1		inserm.fr	GRCh37	19	54561696	54561696	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM265T																					ENST00000338372.2:c.219C>G	p.Ser73Arg	p.S73R	ENST00000338372	NM_198481.3	73	agC/agG	0	validated		benign	
CDCP2		inserm.fr	GRCh37	1	54605224	54605224	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1708T																					ENST00000371330.1:c.1319A>G	p.His440Arg	p.H440R	ENST00000371330	NM_201546.3	440	cAc/cGc	0	not done		benign	
ATP6V1H		inserm.fr	GRCh37	8	54708398	54708398	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC2052T																					ENST00000359530.2:c.679A>G	p.Ile227Val	p.I227V	ENST00000359530	NM_015941.3	227	Ata/Gta	0	not done		possiblydamaging	
FAM83B		inserm.fr	GRCh37	6	54805887	54805887	+	synonymous_variant	Silent	SNP	T	C	C			CHC2115T																					ENST00000306858.7:c.2118T>C	p.Ser706=	p.S706=	ENST00000306858	NM_001010872.2	706	agT/agC	0	not done		synonymous	
NLRP1		inserm.fr	GRCh37	17	5485266	5485266	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC961T									Valid												ENST00000572272.1:c.565C>G	p.Pro189Ala	p.P189A	ENST00000572272		189	Cca/Gca	0	validated		possiblydamaging	
SPTBN1		inserm.fr	GRCh37	2	54856370	54856370	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1183T																					ENST00000356805.4:c.2099A>C	p.Glu700Ala	p.E700A	ENST00000356805	NM_003128.2	700	gAa/gCa	0	not done		benign	
CGRRF1		inserm.fr	GRCh37	14	54996874	54996874	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM339T																					ENST00000216420.7:c.352T>C	p.Phe118Leu	p.F118L	ENST00000216420	NM_006568.2	118	Ttc/Ctc	0	validated		benign	
CACNA2D3		inserm.fr	GRCh37	3	55003868	55003868	+	synonymous_variant	Silent	SNP	T	C	C			BCM735T																					ENST00000474759.1:c.2553T>C	p.Asp851=	p.D851=	ENST00000474759	NM_018398.2	851	gaT/gaC	0	validated		synonymous	
LILRA2		inserm.fr	GRCh37	19	55087525	55087525	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC432T																					ENST00000251377.3:c.1204A>C	p.Asn402His	p.N402H	ENST00000251377		402	Aac/Cac	0	not done		benign	
EML6		inserm.fr	GRCh37	2	55096321	55096321	+	synonymous_variant	Silent	SNP	T	C	C			CHC1211T																					ENST00000356458.6:c.2055T>C	p.Tyr685=	p.Y685=	ENST00000356458	NM_001039753.2	685	taT/taC	0	not done		synonymous	
OR4A15		inserm.fr	GRCh37	11	55135694	55135694	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC923T																					ENST00000314706.3:c.335A>C	p.Asp112Ala	p.D112A	ENST00000314706	NM_001005275.1	112	gAc/gCc	0	not done		probablydamaging	
PDGFRA		inserm.fr	GRCh37	4	55146610	55146610	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM529T																					ENST00000257290.5:c.2284T>C	p.Tyr762His	p.Y762H	ENST00000257290	NM_006206.4	762	Tat/Cat	0	validated		probablydamaging	
FAM104B		inserm.fr	GRCh37	X	55185572	55185572	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC703T																					ENST00000425133.2:c.110A>G	p.Gln37Arg	p.Q37R	ENST00000425133	NM_001166701.1	37	cAa/cGa	0	validated		probablydamaging	
FBXL18		inserm.fr	GRCh37	7	5521528	5521528	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2099T																					ENST00000382368.3:c.2035A>G	p.Ile679Val	p.I679V	ENST00000382368	NM_024963.4	679	Atc/Gtc	0	not done		benign	
EGFR		inserm.fr	GRCh37	7	55249166	55249166	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1598T																					ENST00000275493.2:c.2464G>C	p.Ala822Pro	p.A822P	ENST00000275493	NM_005228.3	822	Gca/Cca	0	not done		probablydamaging	
TTC22		inserm.fr	GRCh37	1	55266778	55266778	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1756T																					ENST00000371276.4:c.59A>G	p.Tyr20Cys	p.Y20C	ENST00000371276	NM_001114108.1	20	tAc/tGc	0	not done		probablydamaging	
UBQLN3		inserm.fr	GRCh37	11	5529613	5529613	+	synonymous_variant	Silent	SNP	T	C	C			BCM739T																					ENST00000311659.4:c.1176A>G	p.Ser392=	p.S392=	ENST00000311659	NM_017481.2	392	tcA/tcG	0	validated		synonymous	
DHCR24		inserm.fr	GRCh37	1	55317936	55317936	+	stop_gained	Nonsense_Mutation	SNP	G	C	C			BCM739T																					ENST00000371269.3:c.1521C>G	p.Tyr507Ter	p.Y507*	ENST00000371269	NM_014762.3	507	taC/taG	0	validated		damaging	
DHCR24		inserm.fr	GRCh37	1	55341714	55341714	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC429T									Valid												ENST00000371269.3:c.394C>G	p.Arg132Gly	p.R132G	ENST00000371269	NM_014762.3	132	Cgt/Ggt	0	validated		probablydamaging	
KIR3DL2		inserm.fr	GRCh37	19	55377348	55377348	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1757T																					ENST00000326321.3:c.1089G>C	p.Trp363Cys	p.W363C	ENST00000326321	NM_006737.3	363	tgG/tgC	0	not done		probablydamaging	
KIR3DL2		inserm.fr	GRCh37	19	55378031	55378031	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM567T																					ENST00000326321.3:c.1213G>C	p.Val405Leu	p.V405L	ENST00000326321	NM_006737.3	405	Gtt/Ctt	0	validated		probablydamaging	
OR4P4		inserm.fr	GRCh37	11	55406392	55406392	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2358T																					ENST00000314612.2:c.559T>C	p.Cys187Arg	p.C187R	ENST00000314612	NM_001004124.1	187	Tgt/Cgt	0	validated		possiblydamaging	
ANKRD55		inserm.fr	GRCh37	5	55407594	55407594	+	synonymous_variant	Silent	SNP	T	C	C			CHC798T																					ENST00000341048.4:c.981A>G	p.Arg327=	p.R327=	ENST00000341048	NM_024669.2	327	cgA/cgG	0	validated		synonymous	
WDHD1		inserm.fr	GRCh37	14	55408332	55408332	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB109T																					ENST00000360586.3:c.3266A>G	p.Glu1089Gly	p.E1089G	ENST00000360586	NM_007086.3	1089	gAa/gGa	0	validated		benign	
OR4S2		inserm.fr	GRCh37	11	55419179	55419179	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM769T																					ENST00000312422.2:c.800A>C	p.Lys267Thr	p.K267T	ENST00000312422	NM_001004059.2	267	aAg/aCg	0	validated		probablydamaging	
WDHD1		inserm.fr	GRCh37	14	55423757	55423757	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2034T																					ENST00000360586.3:c.2911A>G	p.Lys971Glu	p.K971E	ENST00000360586	NM_007086.3	971	Aag/Gag	0	not done		probablydamaging	
OR4C6		inserm.fr	GRCh37	11	55432800	55432800	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1205T																					ENST00000314259.3:c.158T>C	p.Leu53Pro	p.L53P	ENST00000314259	NM_001004704.1	53	cTg/cCg	0	not done		probablydamaging	
NLRP7		inserm.fr	GRCh37	19	55449523	55449523	+	stop_gained	Nonsense_Mutation	SNP	G	C	C			BCM703T																					ENST00000588756.1:c.2018C>G	p.Ser673Ter	p.S673*	ENST00000588756		673	tCa/tGa	0	validated		damaging	
PCSK9		inserm.fr	GRCh37	1	55524200	55524200	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1055T									Valid												ENST00000302118.5:c.1383G>C	p.Trp461Cys	p.W461C	ENST00000302118	NM_174936.3	461	tgG/tgC	0	validated		probablydamaging	
OR5D14		inserm.fr	GRCh37	11	55563855	55563855	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC798T									Valid												ENST00000335605.1:c.824T>C	p.Val275Ala	p.V275A	ENST00000335605	NM_001004735.1	275	gTg/gCg	0	validated		probablydamaging	
PCDH15		inserm.fr	GRCh37	10	55568942	55568942	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC902T																					ENST00000395440.1:c.1670A>G	p.Glu557Gly	p.E557G	ENST00000395440		557	gAa/gGa	0	not done			
OR5D16		inserm.fr	GRCh37	11	55606242	55606242	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1736T																					ENST00000378396.1:c.15G>C	p.Glu5Asp	p.E5D	ENST00000378396	NM_001005496.1	5	gaG/gaC	0	not done		benign	
LPCAT2		inserm.fr	GRCh37	16	55613158	55613158	+	splice_donor_variant	Splice_Site	SNP	T	C	C			CHC1603T																					ENST00000262134.5:c.1450+2T>C		p.X484_splice	ENST00000262134	NM_017839.4			0	not done		possiblydamaging	
TNNT1		inserm.fr	GRCh37	19	55649403	55649403	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC798T									Valid												ENST00000588981.1:c.427C>G	p.Arg143Gly	p.R143G	ENST00000588981	NM_003283.4	143	Cgg/Ggg	0	validated		possiblydamaging	
OR52H1		inserm.fr	GRCh37	11	5566354	5566354	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM265T									Valid												ENST00000322653.4:c.400A>G	p.Ile134Val	p.I134V	ENST00000322653	NM_001005289.1	134	Atc/Gtc	0	validated		probablydamaging	
OR5W2		inserm.fr	GRCh37	11	55681515	55681515	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2112T																					ENST00000344514.1:c.544C>G	p.Pro182Ala	p.P182A	ENST00000344514	NM_001001960.1	182	Cct/Gct	0	not done		benign	
PTPRH		inserm.fr	GRCh37	19	55696883	55696883	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC059T									Valid												ENST00000376350.3:c.3049A>G	p.Ile1017Val	p.I1017V	ENST00000376350	NM_002842.3	1017	Att/Gtt	0	validated		possiblydamaging	
OR6C1		inserm.fr	GRCh37	12	55714811	55714811	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1035T									Valid												ENST00000379668.2:c.428T>C	p.Val143Ala	p.V143A	ENST00000379668	NM_001005182.1	143	gTt/gCt	0	validated		possiblydamaging	
PCDH15		inserm.fr	GRCh37	10	55782799	55782799	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC891T																					ENST00000361849.3:c.2379T>G	p.Asp793Glu	p.D793E	ENST00000361849	NM_001142768.1	793	gaT/gaG	0	not done		probablydamaging	
ATG14		inserm.fr	GRCh37	14	55836427	55836427	+	synonymous_variant	Silent	SNP	T	C	C			BCM371T																					ENST00000247178.5:c.1389A>G	p.Pro463=	p.P463=	ENST00000247178	NM_014924.4	463	ccA/ccG	0	validated		synonymous	
OR8H2		inserm.fr	GRCh37	11	55873047	55873047	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2127T																					ENST00000313503.1:c.529T>C	p.Phe177Leu	p.F177L	ENST00000313503	NM_001005200.1	177	Ttt/Ctt	0	not done		possiblydamaging	
OR8J3		inserm.fr	GRCh37	11	55904522	55904522	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2206T																					ENST00000301529.1:c.673A>G	p.Ile225Val	p.I225V	ENST00000301529	NM_001004064.1	225	Att/Gtt	0	not done		benign	
PCDH15		inserm.fr	GRCh37	10	55955482	55955482	+	synonymous_variant	Silent	SNP	T	C	C			CHC1534T																					ENST00000361849.3:c.1266A>G	p.Ser422=	p.S422=	ENST00000361849	NM_001142768.1	422	tcA/tcG	0	validated		synonymous	
PRTG		inserm.fr	GRCh37	15	55967863	55967863	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1035T									Valid												ENST00000389286.4:c.1400A>G	p.Tyr467Cys	p.Y467C	ENST00000389286	NM_173814.4	467	tAt/tGt	0	validated		probablydamaging	
SBK2		inserm.fr	GRCh37	19	56041188	56041188	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1601T																					ENST00000413299.1:c.959C>G	p.Ala320Gly	p.A320G	ENST00000413299	NM_001101401.2	320	gCc/gGc	0	not done		benign	
SBK2		inserm.fr	GRCh37	19	56041637	56041637	+	synonymous_variant	Silent	SNP	G	C	C			BCB307T																					ENST00000413299.1:c.510C>G	p.Ala170=	p.A170=	ENST00000413299	NM_001101401.2	170	gcC/gcG	0	validated		synonymous	
OR8H1		inserm.fr	GRCh37	11	56057851	56057851	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000313022.2:c.688A>G	p.Thr230Ala	p.T230A	ENST00000313022	NM_001005199.1	230	Act/Gct	0	not done		benign	
OR8H1		inserm.fr	GRCh37	11	56058143	56058143	+	synonymous_variant	Silent	SNP	T	C	C			BCM337T																					ENST00000313022.2:c.396A>G	p.Pro132=	p.P132=	ENST00000313022	NM_001005199.1	132	ccA/ccG	0	validated		synonymous	
SRSF1		inserm.fr	GRCh37	17	56084455	56084455	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC879T																					ENST00000258962.4:c.44A>G	p.Asp15Gly	p.D15G	ENST00000258962	NM_006924.4	15	gAt/gGt	0	not done		probablydamaging	
OR8J1		inserm.fr	GRCh37	11	56127979	56127979	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM337T																					ENST00000303039.3:c.257T>C	p.Leu86Ser	p.L86S	ENST00000303039	NM_001005205.2	86	tTa/tCa	0	validated		probablydamaging	
PCDH15		inserm.fr	GRCh37	10	56128927	56128927	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC429T									Valid												ENST00000361849.3:c.427A>G	p.Asn143Asp	p.N143D	ENST00000361849	NM_001142768.1	143	Aac/Gac	0	not done		probablydamaging	
PCK1		inserm.fr	GRCh37	20	56140188	56140188	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1747T																					ENST00000319441.4:c.1411A>C	p.Lys471Gln	p.K471Q	ENST00000319441	NM_002591.3	471	Aaa/Caa	0	not done		benign	
MAP3K1		inserm.fr	GRCh37	5	56179361	56179361	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2141T																					ENST00000399503.3:c.3674A>C	p.Glu1225Ala	p.E1225A	ENST00000399503	NM_005921.1	1225	gAg/gCg	0	not done		probablydamaging	
MIER3		inserm.fr	GRCh37	5	56231307	56231307	+	synonymous_variant	Silent	SNP	T	C	C			BCB307T																					ENST00000381213.3:c.543A>G	p.Gln181=	p.Q181=	ENST00000381213	NM_152622.3	181	caA/caG	0	validated		synonymous	
MIER3		inserm.fr	GRCh37	5	56233410	56233410	+	stop_gained	Nonsense_Mutation	SNP	A	C	C			CHC1053T									Valid												ENST00000381213.3:c.431T>G	p.Leu144Ter	p.L144*	ENST00000381213	NM_152622.3	144	tTa/tGa	0	validated		damaging	
MIER3		inserm.fr	GRCh37	5	56242884	56242884	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCB111T									Valid												ENST00000381213.3:c.49T>G	p.Ser17Ala	p.S17A	ENST00000381213	NM_152622.3	17	Tct/Gct	0	validated		probablydamaging	
TRIM6		inserm.fr	GRCh37	11	5624849	5624849	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1594T																					ENST00000354852.5:c.391A>C	p.Lys131Gln	p.K131Q	ENST00000354852	NM_001003819.3	131	Aaa/Caa	0	not done		probablydamaging	
EPX		inserm.fr	GRCh37	17	56271390	56271390	+	synonymous_variant	Silent	SNP	T	C	C			BCM683T																					ENST00000225371.5:c.531T>C	p.Asp177=	p.D177=	ENST00000225371	NM_000502.4	177	gaT/gaC	0	validated		synonymous	
WIBG		inserm.fr	GRCh37	12	56295972	56295972	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2034T																					ENST00000408946.2:c.299A>G	p.Gln100Arg	p.Q100R	ENST00000408946	NM_032345.2	100	cAg/cGg	0	not done		probablydamaging	
OR5M11		inserm.fr	GRCh37	11	56310359	56310359	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1763T																					ENST00000528616.2:c.375A>G	p.Ile125Met	p.I125M	ENST00000528616	NM_001005245.1	125	atA/atG	0	not done		probablydamaging	
DST		inserm.fr	GRCh37	6	56357805	56357805	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC917T																					ENST00000244364.6:c.12608A>G	p.Glu4203Gly	p.E4203G	ENST00000244364	NM_015548.4	4203	gAa/gGa	0	validated		probablydamaging	
DST		inserm.fr	GRCh37	6	56394441	56394441	+	synonymous_variant	Silent	SNP	T	C	C			CHC433T																					ENST00000244364.6:c.9531A>G	p.Val3177=	p.V3177=	ENST00000244364	NM_015548.4	3177	gtA/gtG	0	validated		synonymous	
RFX7		inserm.fr	GRCh37	15	56395811	56395811	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1211T																					ENST00000423270.1:c.459C>G	p.Ile153Met	p.I153M	ENST00000423270	NM_022841.5	153	atC/atG	0	not done		possiblydamaging	
OR5AP2		inserm.fr	GRCh37	11	56409161	56409161	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1746T																					ENST00000302981.1:c.755T>G	p.Met252Arg	p.M252R	ENST00000302981	NM_001002925.1	252	aTg/aGg	0	not done		possiblydamaging	
DST		inserm.fr	GRCh37	6	56472942	56472942	+	intron_variant	Intron	SNP	A	C	C			CHC1704T																					ENST00000244364.6:c.3672+2283T>G		*1224*	ENST00000244364	NM_015548.4			0	not done			
DST		inserm.fr	GRCh37	6	56481232	56481232	+	intron_variant	Intron	SNP	T	C	C			CHC798T																					ENST00000244364.6:c.3319-1950A>G		*1107*	ENST00000244364	NM_015548.4			0	validated			
DST		inserm.fr	GRCh37	6	56484400	56484400	+	intron_variant	Intron	SNP	G	C	C			CHC2200T																					ENST00000244364.6:c.3318+4928C>G		*1106*	ENST00000244364	NM_015548.4			0	not done			
OR9G4		inserm.fr	GRCh37	11	56510351	56510351	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1081T																					ENST00000302957.3:c.937A>G	p.Lys313Glu	p.K313E	ENST00000302957	NM_001005284.1	313	Aaa/Gaa	0	validated		probablydamaging	
ESYT1		inserm.fr	GRCh37	12	56537052	56537052	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC304T									Valid												ENST00000541590.1:c.3190A>C	p.Lys1064Gln	p.K1064Q	ENST00000541590		1064	Aag/Cag	0	validated		possiblydamaging	
CCDC85A		inserm.fr	GRCh37	2	56599525	56599525	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC798T																					ENST00000407595.2:c.1364T>C	p.Met455Thr	p.M455T	ENST00000407595	NM_001080433.1	455	aTg/aCg	0	validated		benign	
SEPT4		inserm.fr	GRCh37	17	56603117	56603117	+	synonymous_variant	Silent	SNP	T	C	C			CHC1629T																					ENST00000457347.2:c.522A>G	p.Thr174=	p.T174=	ENST00000457347	NM_001256782.1	174	acA/acG	0	not done		synonymous	
CS		inserm.fr	GRCh37	12	56668599	56668599	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1186T																					ENST00000351328.3:c.982T>G	p.Leu328Val	p.L328V	ENST00000351328	NM_004077.2	328	Tta/Gta	0	not done		benign	
FAM208A		inserm.fr	GRCh37	3	56674151	56674151	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC320T																					ENST00000493960.2:c.2627A>G	p.Asn876Ser	p.N876S	ENST00000493960	NM_001112736.1	876	aAt/aGt	0	validated		benign	
TEX14		inserm.fr	GRCh37	17	56676580	56676580	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC794T																					ENST00000240361.8:c.2144C>G	p.Thr715Ser	p.T715S	ENST00000240361		715	aCc/aGc	0	validated		benign	
PAN2		inserm.fr	GRCh37	12	56720433	56720433	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1053T									Valid												ENST00000425394.2:c.1230T>G	p.Asp410Glu	p.D410E	ENST00000425394	NM_001127460.2	410	gaT/gaG	0	validated		probablydamaging	
MNS1		inserm.fr	GRCh37	15	56726470	56726470	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM791T																					ENST00000260453.3:c.1135A>G	p.Met379Val	p.M379V	ENST00000260453	NM_018365.2	379	Atg/Gtg	0	validated		probablydamaging	
ZNF582		inserm.fr	GRCh37	19	56896268	56896268	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1597T																					ENST00000301310.4:c.518A>G	p.Tyr173Cys	p.Y173C	ENST00000301310	NM_144690.1	173	tAt/tGt	0	not done		benign	
ZNF280D		inserm.fr	GRCh37	15	56923827	56923827	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB325T																					ENST00000267807.7:c.2809A>G	p.Lys937Glu	p.K937E	ENST00000267807	NM_017661.2	937	Aaa/Gaa	0	validated		benign	
ZNF280D		inserm.fr	GRCh37	15	56924277	56924277	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC912T																					ENST00000267807.7:c.2359A>G	p.Asn787Asp	p.N787D	ENST00000267807	NM_017661.2	787	Aat/Gat	0	validated		benign	
PPAP2B		inserm.fr	GRCh37	1	56977667	56977667	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1743T																					ENST00000371250.3:c.791C>G	p.Ala264Gly	p.A264G	ENST00000371250	NM_003713.4	264	gCc/gGc	0	not done		benign	
EVC2		inserm.fr	GRCh37	4	5699342	5699342	+	synonymous_variant	Silent	SNP	T	C	C			BCM257T																					ENST00000344408.5:c.261A>G	p.Glu87=	p.E87=	ENST00000344408	NM_147127.4	87	gaA/gaG	0	validated		synonymous	
BAZ2A		inserm.fr	GRCh37	12	56994997	56994997	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2048T																					ENST00000551812.1:c.4267C>G	p.Leu1423Val	p.L1423V	ENST00000551812	NM_013449.3	1423	Cta/Gta	0	not done		probablydamaging	
BAZ2A		inserm.fr	GRCh37	12	56998064	56998064	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1556T																					ENST00000551812.1:c.2981A>G	p.Lys994Arg	p.K994R	ENST00000551812	NM_013449.3	994	aAg/aGg	0	not done		benign	
LMAN1		inserm.fr	GRCh37	18	57000339	57000339	+	stop_gained	Nonsense_Mutation	SNP	A	C	C			BCM689T																					ENST00000251047.5:c.1358T>G	p.Leu453Ter	p.L453*	ENST00000251047	NM_005570.3	453	tTa/tGa	0	validated		damaging	
LMAN1		inserm.fr	GRCh37	18	57006027	57006027	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1736T																					ENST00000251047.5:c.1114A>G	p.Lys372Glu	p.K372E	ENST00000251047	NM_005570.3	372	Aaa/Gaa	0	not done		benign	
ZNF451		inserm.fr	GRCh37	6	57013310	57013310	+	synonymous_variant	Silent	SNP	T	C	C			CHC1598T																					ENST00000370706.4:c.2427T>C	p.His809=	p.H809=	ENST00000370706	NM_001031623.2	809	caT/caC	0	not done		synonymous	
ATP5B		inserm.fr	GRCh37	12	57032984	57032984	+	synonymous_variant	Silent	SNP	A	C	C			CHC796T																					ENST00000262030.3:c.1395T>G	p.Ser465=	p.S465=	ENST00000262030	NM_001686.3	465	tcT/tcG	0	validated		synonymous	
ATP5B		inserm.fr	GRCh37	12	57037281	57037281	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T									Valid												ENST00000262030.3:c.698T>G	p.Phe233Cys	p.F233C	ENST00000262030	NM_001686.3	233	tTt/tGt	0	validated		probablydamaging	
ATP5B		inserm.fr	GRCh37	12	57039014	57039014	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC614T																					ENST00000262030.3:c.251A>G	p.Asn84Ser	p.N84S	ENST00000262030	NM_001686.3	84	aAt/aGt	0	validated		benign	
NLRC5		inserm.fr	GRCh37	16	57060769	57060769	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC923T																					ENST00000262510.6:c.1914A>C	p.Gln638His	p.Q638H	ENST00000262510	NM_032206.4	638	caA/caC	0	not done		benign	
ZFP28		inserm.fr	GRCh37	19	57065295	57065295	+	synonymous_variant	Silent	SNP	A	C	C			CHC303T																					ENST00000301318.3:c.1141A>C	p.Arg381=	p.R381=	ENST00000301318	NM_020828.1	381	Aga/Cga	0	validated		synonymous	
TNKS1BP1		inserm.fr	GRCh37	11	57068423	57068423	+	synonymous_variant	Silent	SNP	T	C	C			CHC1738T																					ENST00000532437.1:c.5064A>G	p.Lys1688=	p.K1688=	ENST00000532437		1688	aaA/aaG	0	not done		synonymous	
PRG2		inserm.fr	GRCh37	11	57156620	57156620	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC433T									Valid												ENST00000311862.5:c.229A>G	p.Ile77Val	p.I77V	ENST00000311862	NM_002728.4	77	Atc/Gtc	0	validated		benign	
KIAA1211		inserm.fr	GRCh37	4	57181221	57181221	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1137T																					ENST00000504228.1:c.1553A>C	p.Lys518Thr	p.K518T	ENST00000504228		518	aAg/aCg	0	not done		probablydamaging	
SKA2		inserm.fr	GRCh37	17	57196831	57196831	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC614T									Valid												ENST00000330137.7:c.146A>G	p.Glu49Gly	p.E49G	ENST00000330137	NM_182620.3	49	gAa/gGa	0	validated		probablydamaging	
PRR11		inserm.fr	GRCh37	17	57262836	57262836	+	synonymous_variant	Silent	SNP	T	C	C			CHC1747T																					ENST00000262293.4:c.315T>C	p.Ser105=	p.S105=	ENST00000262293	NM_018304.3	105	tcT/tcC	0	not done		synonymous	
APPL1		inserm.fr	GRCh37	3	57283575	57283575	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	C	C			BCM529T																					ENST00000288266.3:c.1051A>C	p.Lys351Gln	p.K351Q	ENST00000288266	NM_012096.2	351	Aaa/Caa	0	validated		damaging	
SMG8		inserm.fr	GRCh37	17	57287629	57287629	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCB151T																					ENST00000543872.2:c.217G>C	p.Asp73His	p.D73H	ENST00000543872		73	Gac/Cac	0	validated		probablydamaging	
SMTNL1		inserm.fr	GRCh37	11	57313763	57313763	+	synonymous_variant	Silent	SNP	T	C	C			CHC2141T																					ENST00000457912.1:c.1185T>C	p.Ile395=	p.I395=	ENST00000457912		395	atT/atC	0	not done		synonymous	
PEG3		inserm.fr	GRCh37	19	57326589	57326589	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC469T																					ENST00000326441.9:c.3221A>G	p.His1074Arg	p.H1074R	ENST00000326441	NM_006210.2	1074	cAc/cGc	0	validated		possiblydamaging	
PEG3		inserm.fr	GRCh37	19	57328089	57328089	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1736T																					ENST00000326441.9:c.1721A>G	p.His574Arg	p.H574R	ENST00000326441	NM_006210.2	574	cAt/cGt	0	not done		probablydamaging	
CATSPERD		inserm.fr	GRCh37	19	5733952	5733952	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2034T																					ENST00000381624.3:c.362A>C	p.Tyr121Ser	p.Y121S	ENST00000381624	NM_152784.3	121	tAt/tCt	0	not done		probablydamaging	
DNAH12		inserm.fr	GRCh37	3	57343815	57343815	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1624T																					ENST00000344804.4:c.1121T>G	p.Leu374Arg	p.L374R	ENST00000344804		374	cTt/cGt	0	validated		possiblydamaging	
DNAH12		inserm.fr	GRCh37	3	57394029	57394029	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1732T																					ENST00000351747.2:c.6197A>G	p.Gln2066Arg	p.Q2066R	ENST00000351747	NM_178504.4	2066	cAg/cGg	0	not done		probablydamaging	
ZBTB39		inserm.fr	GRCh37	12	57397291	57397291	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1712T																					ENST00000300101.2:c.1411A>G	p.Ile471Val	p.I471V	ENST00000300101	NM_014830.2	471	Atc/Gtc	0	not done		benign	
THEGL		inserm.fr	GRCh37	4	57425611	57425611	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1148T																					ENST00000512175.2:c.647T>C	p.Leu216Ser	p.L216S	ENST00000512175	NM_001256475.1	216	tTg/tCg	0	not done			
CLP1		inserm.fr	GRCh37	11	57428596	57428596	+	synonymous_variant	Silent	SNP	A	C	C			BCB231T																					ENST00000533682.1:c.966A>C	p.Ser322=	p.S322=	ENST00000533682		322	tcA/tcC	0	validated		synonymous	
DNAH12		inserm.fr	GRCh37	3	57458308	57458308	+	upstream_gene_variant	5'Flank	SNP	T	C	C			CHC2351T																								ENST00000459308				0	not done		benign	
STAT6		inserm.fr	GRCh37	12	57501498	57501498	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1763T																					ENST00000300134.3:c.145T>G	p.Cys49Gly	p.C49G	ENST00000300134	NM_001178078.1	49	Tgc/Ggc	0	not done		probablydamaging	
RNF216		inserm.fr	GRCh37	7	5754790	5754790	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1569T																					ENST00000389902.3:c.1727A>G	p.Tyr576Cys	p.Y576C	ENST00000389902		576	tAt/tGt	0	not done		possiblydamaging	
LRP1		inserm.fr	GRCh37	12	57550649	57550649	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1592T																					ENST00000243077.3:c.1507A>C	p.Thr503Pro	p.T503P	ENST00000243077	NM_002332.2	503	Acc/Ccc	0	not done		probablydamaging	
NELFCD		inserm.fr	GRCh37	20	57561895	57561895	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1700T																					ENST00000602795.1:c.317T>C	p.Leu106Pro	p.L106P	ENST00000602795	NM_198976.2	106	cTg/cCg	0	not done		probablydamaging	
LRP1		inserm.fr	GRCh37	12	57579619	57579619	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC314T																					ENST00000243077.3:c.6769T>C	p.Phe2257Leu	p.F2257L	ENST00000243077	NM_002332.2	2257	Ttc/Ctc	0	validated		benign	
DUXA		inserm.fr	GRCh37	19	57672104	57672104	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1545T																					ENST00000554048.2:c.87C>G	p.Ile29Met	p.I29M	ENST00000554048	NM_001012729.1	29	atC/atG	0	not done		probablydamaging	
R3HDM2		inserm.fr	GRCh37	12	57674237	57674237	+	synonymous_variant	Silent	SNP	A	C	C			CHC303T																					ENST00000347140.3:c.1206T>G	p.Thr402=	p.T402=	ENST00000347140		402	acT/acG	0	validated		synonymous	
SPINK2		inserm.fr	GRCh37	4	57687782	57687782	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2110Tbis																					ENST00000248701.4:c.47C>G	p.Thr16Ser	p.T16S	ENST00000248701	NM_021114.3	16	aCc/aGc	0	not done		benign	
KIAA1432		inserm.fr	GRCh37	9	5768971	5768971	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC314T									Valid												ENST00000414202.2:c.3139T>C	p.Trp1047Arg	p.W1047R	ENST00000414202	NM_001206557.1	1047	Tgg/Cgg	0	validated		probablydamaging	
ZNF831		inserm.fr	GRCh37	20	57769401	57769401	+	synonymous_variant	Silent	SNP	T	C	C			CHC1534T																					ENST00000371030.2:c.3327T>C	p.Asn1109=	p.N1109=	ENST00000371030	NM_178457.2	1109	aaT/aaC	0	validated		synonymous	
OR6Q1		inserm.fr	GRCh37	11	57798580	57798580	+	synonymous_variant	Silent	SNP	T	C	C			CHC898T																					ENST00000302622.3:c.156T>C	p.Gly52=	p.G52=	ENST00000302622	NM_001005186.2	52	ggT/ggC	0	not done		synonymous	
CGNL1		inserm.fr	GRCh37	15	57838421	57838421	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1207T																					ENST00000281282.5:c.3757A>C	p.Met1253Leu	p.M1253L	ENST00000281282	NM_032866.4	1253	Atg/Ctg	0	not done		benign	
ZNF543		inserm.fr	GRCh37	19	57840358	57840358	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1774T																					ENST00000321545.4:c.1528A>C	p.Ile510Leu	p.I510L	ENST00000321545	NM_213598.3	510	Atc/Ctc	0	validated		benign	
ZNF543		inserm.fr	GRCh37	19	57840469	57840469	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1749T																					ENST00000321545.4:c.1639G>C	p.Gly547Arg	p.G547R	ENST00000321545	NM_213598.3	547	Ggc/Cgc	0	not done		benign	
INHBE		inserm.fr	GRCh37	12	57849444	57849444	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1749T																					ENST00000266646.2:c.125T>C	p.Leu42Pro	p.L42P	ENST00000266646	NM_031479.3	42	cTg/cCg	0	not done		probablydamaging	
POLR2B		inserm.fr	GRCh37	4	57865824	57865824	+	synonymous_variant	Silent	SNP	T	C	C			BCM337T																					ENST00000381227.1:c.777T>C	p.Thr259=	p.T259=	ENST00000381227		259	acT/acC	0	validated		synonymous	
NAA30		inserm.fr	GRCh37	14	57876217	57876217	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1207T																					ENST00000556492.1:c.1072A>C	p.Lys358Gln	p.K358Q	ENST00000556492	NM_001011713.2	358	Aaa/Caa	0	not done		probablydamaging	
DUS3L		inserm.fr	GRCh37	19	5788385	5788385	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1556T																					ENST00000309061.7:c.925C>G	p.Leu309Val	p.L309V	ENST00000309061	NM_020175.2	309	Ctg/Gtg	0	not done		probablydamaging	
C14orf105		inserm.fr	GRCh37	14	57938100	57938100	+	synonymous_variant	Silent	SNP	A	C	C			CHC1566T																					ENST00000216445.3:c.864T>G	p.Leu288=	p.L288=	ENST00000216445	NM_018168.2	288	ctT/ctG	0	not done		synonymous	
SLC26A10P		inserm.fr	GRCh37	12	58015496	58015496	+	synonymous_variant	Silent	SNP	G	C	C			BCM423T																					ENST00000320442.4:c.579G>C	p.Ala193=	p.A193=	ENST00000320442	NM_133489.2	193	gcG/gcC	0	validated		synonymous	
OR10W1		inserm.fr	GRCh37	11	58035100	58035100	+	synonymous_variant	Silent	SNP	T	C	C			CHC1207T																					ENST00000395079.2:c.231A>G	p.Leu77=	p.L77=	ENST00000395079	NM_207374.3	77	ctA/ctG	0	not done		synonymous	
ERMP1		inserm.fr	GRCh37	9	5810113	5810113	+	synonymous_variant	Silent	SNP	G	C	C			CHC1205T																					ENST00000339450.5:c.1446C>G	p.Leu482=	p.L482=	ENST00000339450	NM_024896.2	482	ctC/ctG	0	not done		synonymous	
OR5B17		inserm.fr	GRCh37	11	58126250	58126250	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM711T																					ENST00000357377.3:c.293A>G	p.Gln98Arg	p.Q98R	ENST00000357377	NM_001005489.1	98	cAg/cGg	0	validated		probablydamaging	
HEATR6		inserm.fr	GRCh37	17	58148154	58148154	+	synonymous_variant	Silent	SNP	T	C	C			CHC2110Tbis																					ENST00000184956.6:c.714A>G	p.Ala238=	p.A238=	ENST00000184956	NM_022070.4	238	gcA/gcG	0	not done		synonymous	
OR5B2		inserm.fr	GRCh37	11	58190594	58190594	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1182T																					ENST00000302581.2:c.141C>G	p.Ile47Met	p.I47M	ENST00000302581	NM_001005566.2	47	atC/atG	0	not done		probablydamaging	
PCDH17		inserm.fr	GRCh37	13	58208490	58208490	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1725T																					ENST00000377918.3:c.1810G>C	p.Gly604Arg	p.G604R	ENST00000377918	NM_001040429.2	604	Ggc/Cgc	0	not done		probablydamaging	
USP32		inserm.fr	GRCh37	17	58282831	58282831	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1052T									Valid												ENST00000300896.4:c.3226A>G	p.Ile1076Val	p.I1076V	ENST00000300896	NM_032582.3	1076	Atc/Gtc	0	validated		benign	
PXK		inserm.fr	GRCh37	3	58380735	58380735	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1592T																					ENST00000356151.2:c.626T>C	p.Ile209Thr	p.I209T	ENST00000356151	NM_017771.3	209	aTc/aCc	0	not done		benign	
PDHB		inserm.fr	GRCh37	3	58417486	58417486	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1739T																					ENST00000302746.6:c.239A>G	p.Lys80Arg	p.K80R	ENST00000302746	NM_000925.3	80	aAg/aGg	0	not done		benign	
SYCP2		inserm.fr	GRCh37	20	58475232	58475232	+	synonymous_variant	Silent	SNP	T	C	C			CHC2206T																					ENST00000357552.3:c.1365A>G	p.Lys455=	p.K455=	ENST00000357552		455	aaA/aaG	0	not done		synonymous	
ZNF606		inserm.fr	GRCh37	19	58490038	58490038	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1531T																					ENST00000341164.4:c.2010T>G	p.His670Gln	p.H670Q	ENST00000341164	NM_025027.3	670	caT/caG	0	validated		probablydamaging	
ZNF606		inserm.fr	GRCh37	19	58491600	58491600	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM339T																					ENST00000341164.4:c.448A>G	p.Ile150Val	p.I150V	ENST00000341164	NM_025027.3	150	Att/Gtt	0	validated		benign	
PDE4D		inserm.fr	GRCh37	5	58511700	58511700	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2048T																					ENST00000340635.6:c.550C>G	p.His184Asp	p.H184D	ENST00000340635	NM_001104631.1	184	Cac/Gac	0	not done		possiblydamaging	
FAM217B		inserm.fr	GRCh37	20	58519749	58519749	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC258T																					ENST00000358293.3:c.751G>C	p.Ala251Pro	p.A251P	ENST00000358293	NM_001190826.1	251	Gct/Cct	0	validated		benign	
FAM217B		inserm.fr	GRCh37	20	58520026	58520026	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T																					ENST00000358293.3:c.1028A>C	p.Lys343Thr	p.K343T	ENST00000358293	NM_001190826.1	343	aAa/aCa	0	validated		possiblydamaging	
APPBP2		inserm.fr	GRCh37	17	58531789	58531789	+	synonymous_variant	Silent	SNP	T	C	C			CHC2052T																					ENST00000083182.3:c.1212A>G	p.Gln404=	p.Q404=	ENST00000083182	NM_006380.2	404	caA/caG	0	not done		synonymous	
CNOT1		inserm.fr	GRCh37	16	58572144	58572144	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC205T																					ENST00000317147.5:c.5162A>G	p.Tyr1721Cys	p.Y1721C	ENST00000317147	NM_016284.4	1721	tAt/tGt	0	validated		benign	
CNOT1		inserm.fr	GRCh37	16	58594130	58594130	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1592T																					ENST00000317147.5:c.2116A>G	p.Ile706Val	p.I706V	ENST00000317147	NM_016284.4	706	Att/Gtt	0	not done		benign	
GLYATL2		inserm.fr	GRCh37	11	58602017	58602017	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC879T																					ENST00000287275.1:c.770A>G	p.Tyr257Cys	p.Y257C	ENST00000287275	NM_145016.3	257	tAt/tGt	0	not done		probablydamaging	
CNOT1		inserm.fr	GRCh37	16	58615382	58615382	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC898T																					ENST00000317147.5:c.1082T>G	p.Leu361Arg	p.L361R	ENST00000317147	NM_016284.4	361	cTg/cGg	0	not done		probablydamaging	
CNOT1		inserm.fr	GRCh37	16	58621278	58621278	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000317147.5:c.349A>G	p.Lys117Glu	p.K117E	ENST00000317147	NM_016284.4	117	Aaa/Gaa	0	not done		possiblydamaging	
ZNF329		inserm.fr	GRCh37	19	58639507	58639507	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2052T																					ENST00000598312.1:c.1364A>G	p.Tyr455Cys	p.Y455C	ENST00000598312	NM_024620.3	455	tAt/tGt	0	not done		probablydamaging	
C3orf67		inserm.fr	GRCh37	3	58853558	58853558	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1597T																					ENST00000295966.7:c.745A>G	p.Thr249Ala	p.T249A	ENST00000295966	NM_198463.2	249	Aca/Gca	0	not done		possiblydamaging	
OMA1		inserm.fr	GRCh37	1	58992980	58992980	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1053T																					ENST00000371226.3:c.1168A>G	p.Lys390Glu	p.K390E	ENST00000371226	NM_145243.3	390	Aaa/Gaa	0	validated		benign	
OMA1		inserm.fr	GRCh37	1	59004604	59004604	+	synonymous_variant	Silent	SNP	T	C	C			CHC1079T																					ENST00000371226.3:c.363A>G	p.Val121=	p.V121=	ENST00000371226	NM_145243.3	121	gtA/gtG	0	not done		synonymous	
CHGB		inserm.fr	GRCh37	20	5903495	5903495	+	synonymous_variant	Silent	SNP	T	C	C			CHC1591T																					ENST00000378961.4:c.705T>C	p.Ser235=	p.S235=	ENST00000378961	NM_001819.2	235	agT/agC	0	not done		synonymous	
TRIM28		inserm.fr	GRCh37	19	59057207	59057207	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC805T																					ENST00000253024.5:c.530G>C	p.Cys177Ser	p.C177S	ENST00000253024	NM_005762.2	177	tGt/tCt	0	not done		probablydamaging	
LRIG3		inserm.fr	GRCh37	12	59280641	59280641	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1763T																					ENST00000320743.3:c.1123A>G	p.Ile375Val	p.I375V	ENST00000320743	NM_153377.4	375	Att/Gtt	0	not done		probablydamaging	
CYP7A1		inserm.fr	GRCh37	8	59409280	59409280	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC304T									Valid												ENST00000301645.3:c.791A>G	p.Asn264Ser	p.N264S	ENST00000301645	NM_000780.3	264	aAt/aGt	0	validated		probablydamaging	
OR10V1		inserm.fr	GRCh37	11	59481184	59481184	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM257T																					ENST00000307552.2:c.135T>G	p.Ile45Met	p.I45M	ENST00000307552	NM_001005324.1	45	atT/atG	0	validated		probablydamaging	
MYO1E		inserm.fr	GRCh37	15	59564623	59564623	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC361TA									Valid												ENST00000288235.4:c.29A>G	p.His10Arg	p.H10R	ENST00000288235	NM_004998.3	10	cAc/cGc	0	validated		probablydamaging	
MRPL16		inserm.fr	GRCh37	11	59573821	59573821	+	stop_lost	Nonstop_Mutation	SNP	T	C	C			CHC320T									Valid												ENST00000300151.4:c.755A>G	p.Ter252TrpextTer1	p.*252Wext*1	ENST00000300151	NM_017840.3	252	tAg/tGg	0	validated		damaging	
GIF		inserm.fr	GRCh37	11	59599220	59599220	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC798T									Valid												ENST00000257248.2:c.1123A>G	p.Asn375Asp	p.N375D	ENST00000257248	NM_005142.2	375	Aat/Gat	0	validated		benign	
PIGN		inserm.fr	GRCh37	18	59755989	59755989	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	C	C			CHC902T																					ENST00000357637.5:c.2370T>G	p.Leu790=	p.L790=	ENST00000357637	NM_176787.4	790	ctT/ctG	0	not done		damaging	
BRIP1		inserm.fr	GRCh37	17	59761070	59761070	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC902T																					ENST00000259008.2:c.3337A>G	p.Lys1113Glu	p.K1113E	ENST00000259008	NM_032043.2	1113	Aaa/Gaa	0	not done		benign	
FAM81A		inserm.fr	GRCh37	15	59799535	59799535	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC912T																					ENST00000288228.5:c.537G>C	p.Glu179Asp	p.E179D	ENST00000288228	NM_152450.2	179	gaG/gaC	0	validated		probablydamaging	
MS4A2		inserm.fr	GRCh37	11	59856271	59856271	+	synonymous_variant	Silent	SNP	T	C	C			CHC1915T																					ENST00000278888.3:c.33T>C	p.Leu11=	p.L11=	ENST00000278888	NM_000139.4	11	ctT/ctC	0	validated		synonymous	
BRIP1		inserm.fr	GRCh37	17	59876576	59876576	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1602T																					ENST00000259008.2:c.1225A>G	p.Ser409Gly	p.S409G	ENST00000259008	NM_032043.2	409	Agt/Ggt	0	not done		benign	
IPMK		inserm.fr	GRCh37	10	59959069	59959069	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1747T																					ENST00000373935.3:c.560A>G	p.His187Arg	p.H187R	ENST00000373935	NM_152230.4	187	cAt/cGt	0	validated		benign	
INTS2		inserm.fr	GRCh37	17	59971126	59971126	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	C	C			BCM397T									Valid												ENST00000444766.3:c.1722A>G	p.Lys574=	p.K574=	ENST00000444766	NM_020748.2	574	aaA/aaG	0	validated		damaging	
CCDC175		inserm.fr	GRCh37	14	60030479	60030479	+	synonymous_variant	Silent	SNP	T	C	C			CHC1725T																					ENST00000537690.2:c.819A>G	p.Lys273=	p.K273=	ENST00000537690	NM_001164399.1	273	aaA/aaG	0	validated		synonymous	
MS4A4A		inserm.fr	GRCh37	11	60064726	60064726	+	synonymous_variant	Silent	SNP	T	C	C			CHC429T																					ENST00000337908.4:c.258T>C	p.Cys86=	p.C86=	ENST00000337908	NM_148975.2	86	tgT/tgC	0	validated		synonymous	
MS4A4A		inserm.fr	GRCh37	11	60073592	60073592	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1040T																					ENST00000337908.4:c.566T>C	p.Leu189Pro	p.L189P	ENST00000337908	NM_148975.2	189	cTc/cCc	0	not done		probablydamaging	
PMS2		inserm.fr	GRCh37	7	6017367	6017367	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1186T																					ENST00000265849.7:c.2297A>G	p.Lys766Arg	p.K766R	ENST00000265849	NM_000535.5	766	aAa/aGa	0	validated		probablydamaging	
FOXB1		inserm.fr	GRCh37	15	60298111	60298111	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB157T																					ENST00000396057.4:c.949T>C	p.Ser317Pro	p.S317P	ENST00000396057	NM_012182.2	317	Tcc/Ccc	0	validated		benign	
CDH4		inserm.fr	GRCh37	20	60318673	60318673	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1708T																					ENST00000360469.5:c.224T>C	p.Met75Thr	p.M75T	ENST00000360469	NM_001794.3	75	aTg/aCg	0	not done		benign	
TAF4		inserm.fr	GRCh37	20	60551337	60551337	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC912T									Valid												ENST00000252996.4:c.3145C>G	p.Gln1049Glu	p.Q1049E	ENST00000252996	NM_003185.3	1049	Cag/Gag	0	validated		probablydamaging	
CCDC86		inserm.fr	GRCh37	11	60609901	60609901	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1052T									Valid												ENST00000227520.5:c.304T>C	p.Ser102Pro	p.S102P	ENST00000227520	NM_024098.3	102	Tcg/Ccg	0	validated		probablydamaging	
ZP1		inserm.fr	GRCh37	11	60637201	60637201	+	synonymous_variant	Silent	SNP	T	C	C			CHC1211T																					ENST00000278853.5:c.510T>C	p.His170=	p.H170=	ENST00000278853	NM_207341.2	170	caT/caC	0	not done		synonymous	
ANXA2		inserm.fr	GRCh37	15	60674636	60674636	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2110Tbis																					ENST00000332680.4:c.107C>G	p.Ser36Cys	p.S36C	ENST00000332680	NM_001002858.2	36	tCt/tGt	0	not done		probablydamaging	
TLK2		inserm.fr	GRCh37	17	60679446	60679446	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC301T									Valid												ENST00000346027.5:c.1764A>C	p.Lys588Asn	p.K588N	ENST00000346027	NM_006852.3	588	aaA/aaC	0	validated		probablydamaging	
CD6		inserm.fr	GRCh37	11	60775084	60775084	+	synonymous_variant	Silent	SNP	G	C	C			CHC1736T																					ENST00000313421.7:c.171G>C	p.Thr57=	p.T57=	ENST00000313421	NM_006725.4	57	acG/acC	0	not done		synonymous	
MARCH10		inserm.fr	GRCh37	17	60813698	60813698	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1211T																					ENST00000311269.5:c.1531C>G	p.Gln511Glu	p.Q511E	ENST00000311269	NM_152598.2	511	Caa/Gaa	0	not done		benign	
VPS4B		inserm.fr	GRCh37	18	61064443	61064443	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1739T																					ENST00000238497.5:c.916C>G	p.Arg306Gly	p.R306G	ENST00000238497	NM_004869.3	306	Cga/Gga	0	not done		probablydamaging	
PPP1R32		inserm.fr	GRCh37	11	61257290	61257290	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1754T																					ENST00000338608.2:c.1080A>C	p.Glu360Asp	p.E360D	ENST00000338608	NM_145017.2	360	gaA/gaC	0	not done		probablydamaging	
PPP1R32		inserm.fr	GRCh37	11	61258005	61258005	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1749T																					ENST00000338608.2:c.1241A>C	p.Asn414Thr	p.N414T	ENST00000338608	NM_145017.2	414	aAc/aCc	0	not done		benign	
HCN2		inserm.fr	GRCh37	19	613966	613966	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC433T																					ENST00000251287.2:c.1940T>C	p.Met647Thr	p.M647T	ENST00000251287	NM_001194.3	647	aTg/aCg	0	validated		benign	
SLC16A9		inserm.fr	GRCh37	10	61414182	61414182	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1592T																					ENST00000395348.3:c.602A>G	p.Lys201Arg	p.K201R	ENST00000395348	NM_194298.2	201	aAa/aGa	0	not done		benign	
TRMT5		inserm.fr	GRCh37	14	61442329	61442329	+	synonymous_variant	Silent	SNP	T	C	C			CHC1736T																					ENST00000261249.6:c.1308A>G	p.Gly436=	p.G436=	ENST00000261249	NM_020810.2	436	ggA/ggG	0	not done		synonymous	
SERPINB7		inserm.fr	GRCh37	18	61471566	61471566	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1182T																					ENST00000398019.2:c.840G>C	p.Lys280Asn	p.K280N	ENST00000398019	NM_003784.3	280	aaG/aaC	0	not done		probablydamaging	
DAGLA		inserm.fr	GRCh37	11	61490434	61490434	+	splice_donor_variant	Splice_Site	SNP	T	C	C			CHC197T									Valid												ENST00000257215.5:c.409+2T>C		p.X137_splice	ENST00000257215	NM_006133.2			0	validated		damaging	
CYB561		inserm.fr	GRCh37	17	61513421	61513421	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1731T																					ENST00000392976.1:c.295C>G	p.Leu99Val	p.L99V	ENST00000392976	NM_001017916.1	99	Ctg/Gtg	0	not done		benign	
DIDO1		inserm.fr	GRCh37	20	61527931	61527931	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1545T																					ENST00000266070.4:c.2006A>G	p.Gln669Arg	p.Q669R	ENST00000266070	NM_033081.2	669	cAa/cGa	0	not done		probablydamaging	
RBM17		inserm.fr	GRCh37	10	6154224	6154224	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC465T									Valid												ENST00000446108.1:c.756G>C	p.Gln252His	p.Q252H	ENST00000446108	NM_001145547.1	252	caG/caC	0	validated		probablydamaging	
USP34		inserm.fr	GRCh37	2	61571030	61571030	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2052T																					ENST00000398571.2:c.2420A>G	p.Asn807Ser	p.N807S	ENST00000398571	NM_014709.3	807	aAt/aGt	0	not done		possiblydamaging	
KIF2A		inserm.fr	GRCh37	5	61659042	61659042	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC218T																					ENST00000407818.3:c.1157T>C	p.Val386Ala	p.V386A	ENST00000407818	NM_001098511.2	386	gTt/gCt	0	validated		probablydamaging	
DIMT1		inserm.fr	GRCh37	5	61689787	61689787	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2098T																					ENST00000199320.4:c.658T>G	p.Phe220Val	p.F220V	ENST00000199320	NM_014473.2	220	Ttt/Gtt	0	not done		possiblydamaging	
CHD7		inserm.fr	GRCh37	8	61732618	61732618	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T									Valid												ENST00000423902.2:c.2666A>C	p.Asp889Ala	p.D889A	ENST00000423902	NM_017780.3	889	gAc/gCc	0	validated		possiblydamaging	
CHD7		inserm.fr	GRCh37	8	61736403	61736403	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2321T																					ENST00000423902.2:c.3206G>C	p.Arg1069Pro	p.R1069P	ENST00000423902	NM_017780.3	1069	cGa/cCa	0	validated		benign	
CHD7		inserm.fr	GRCh37	8	61750394	61750394	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	C	C			CHC794T									Valid												ENST00000423902.2:c.4353G>C	p.Gly1451=	p.G1451=	ENST00000423902	NM_017780.3	1451	ggG/ggC	0	validated		possiblydamaging	
CDH8		inserm.fr	GRCh37	16	61761084	61761084	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1545T																					ENST00000577390.1:c.1450A>G	p.Ile484Val	p.I484V	ENST00000577390	NM_001796.4	484	Att/Gtt	0	not done		possiblydamaging	
ANK3		inserm.fr	GRCh37	10	61815618	61815618	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC432T																					ENST00000280772.2:c.12863A>G	p.His4288Arg	p.H4288R	ENST00000280772	NM_020987.3	4288	cAt/cGt	0	not done		benign	
YTHDF1		inserm.fr	GRCh37	20	61833912	61833912	+	synonymous_variant	Silent	SNP	G	C	C			CHC609T																					ENST00000370339.3:c.1380C>G	p.Thr460=	p.T460=	ENST00000370339	NM_017798.3	460	acC/acG	0	validated		synonymous	
CDH8		inserm.fr	GRCh37	16	61854997	61854997	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC205T									Valid												ENST00000577390.1:c.856C>G	p.Pro286Ala	p.P286A	ENST00000577390	NM_001796.4	286	Ccg/Gcg	0	validated		benign	
COL20A1		inserm.fr	GRCh37	20	61951434	61951434	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM321T																					ENST00000358894.6:c.2960A>C	p.Asp987Ala	p.D987A	ENST00000358894	NM_020882.2	987	gAc/gCc	0	validated		probablydamaging	
COL20A1		inserm.fr	GRCh37	20	61956820	61956820	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1744T																					ENST00000358894.6:c.3322G>C	p.Gly1108Arg	p.G1108R	ENST00000358894	NM_020882.2	1108	Gga/Cga	0	validated		probablydamaging	
CHRNA4		inserm.fr	GRCh37	20	61992509	61992509	+	synonymous_variant	Silent	SNP	T	C	C			CHC1097T																					ENST00000370263.4:c.9A>G	p.Leu3=	p.L3=	ENST00000370263	NM_000744.6	3	ctA/ctG	0	validated		synonymous	
KCNQ2		inserm.fr	GRCh37	20	62044812	62044812	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC433T									Valid												ENST00000359125.2:c.1754T>G	p.Leu585Arg	p.L585R	ENST00000359125	NM_172107.2	585	cTg/cGg	0	validated		probablydamaging	
CCT4		inserm.fr	GRCh37	2	62106116	62106116	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM337T																					ENST00000394440.3:c.410T>G	p.Phe137Cys	p.F137C	ENST00000394440	NM_006430.3	137	tTc/tGc	0	validated		probablydamaging	
ERN1		inserm.fr	GRCh37	17	62132151	62132151	+	synonymous_variant	Silent	SNP	G	C	C			CHC1708T																					ENST00000433197.3:c.1710C>G	p.Ser570=	p.S570=	ENST00000433197	NM_001433.3	570	tcC/tcG	0	not done		synonymous	
HELZ2		inserm.fr	GRCh37	20	62200087	62200087	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC796T									Valid												ENST00000467148.1:c.1354C>G	p.Arg452Gly	p.R452G	ENST00000467148	NM_001037335.2	452	Cgc/Ggc	0	validated		possiblydamaging	
HELZ2		inserm.fr	GRCh37	20	62202180	62202180	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1715T																					ENST00000467148.1:c.320A>G	p.His107Arg	p.H107R	ENST00000467148	NM_001037335.2	107	cAc/cGc	0	not done		probablydamaging	
HIF1A		inserm.fr	GRCh37	14	62204823	62204823	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC433T																					ENST00000539097.1:c.1340A>C	p.Gln447Pro	p.Q447P	ENST00000539097	NM_001243084.1	447	cAg/cCg	0	validated		benign	
VPS13C		inserm.fr	GRCh37	15	62208205	62208205	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC218T																					ENST00000261517.5:c.8072A>G	p.His2691Arg	p.H2691R	ENST00000261517	NM_020821.2	2691	cAt/cGt	0	validated		benign	
VPS13C		inserm.fr	GRCh37	15	62250849	62250849	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC451T																					ENST00000261517.5:c.4123A>G	p.Thr1375Ala	p.T1375A	ENST00000261517	NM_020821.2	1375	Act/Gct	0	validated		benign	
VPS13C		inserm.fr	GRCh37	15	62265658	62265658	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC314T																					ENST00000261517.5:c.2612A>G	p.Glu871Gly	p.E871G	ENST00000261517	NM_020821.2	871	gAa/gGa	0	validated		benign	
AHNAK		inserm.fr	GRCh37	11	62292802	62292802	+	synonymous_variant	Silent	SNP	T	C	C			CHC2362T																					ENST00000378024.4:c.9087A>G	p.Lys3029=	p.K3029=	ENST00000378024	NM_001620.2	3029	aaA/aaG	0	validated		synonymous	
AHNAK		inserm.fr	GRCh37	11	62297587	62297587	+	synonymous_variant	Silent	SNP	T	C	C			CHC1079T																					ENST00000378024.4:c.4302A>G	p.Leu1434=	p.L1434=	ENST00000378024	NM_001620.2	1434	ctA/ctG	0	not done		synonymous	
POLRMT		inserm.fr	GRCh37	19	623568	623568	+	synonymous_variant	Silent	SNP	G	C	C			CHC1626T																					ENST00000588649.2:c.1176C>G	p.Pro392=	p.P392=	ENST00000588649	NM_005035.3	392	ccC/ccG	0	not done		synonymous	
MTA2		inserm.fr	GRCh37	11	62364796	62364796	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2200T																					ENST00000278823.2:c.685A>G	p.Ile229Val	p.I229V	ENST00000278823	NM_004739.3	229	Atc/Gtc	0	not done		possiblydamaging	
EML3		inserm.fr	GRCh37	11	62378406	62378406	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1611T																					ENST00000394773.2:c.511T>G	p.Ser171Ala	p.S171A	ENST00000394773	NM_153265.2	171	Tcc/Gcc	0	not done		benign	
METTL12		inserm.fr	GRCh37	11	62434125	62434125	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM723T																					ENST00000532971.1:c.325T>C	p.Ser109Pro	p.S109P	ENST00000532971	NM_001043229.1	109	Tct/Cct	0	validated		probablydamaging	
KHDRBS2		inserm.fr	GRCh37	6	62442629	62442629	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2358T																					ENST00000281156.4:c.851C>G	p.Thr284Ser	p.T284S	ENST00000281156	NM_152688.2	284	aCc/aGc	0	validated		benign	
ASPH		inserm.fr	GRCh37	8	62465629	62465629	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC469T									Valid												ENST00000379454.4:c.1587C>G	p.Phe529Leu	p.F529L	ENST00000379454	NM_004318.3	529	ttC/ttG	0	validated		probablydamaging	
CDHR5		inserm.fr	GRCh37	11	624682	624682	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM501T																					ENST00000358353.3:c.136A>G	p.Thr46Ala	p.T46A	ENST00000358353		46	Acc/Gcc	0	validated		benign	
RPL22		inserm.fr	GRCh37	1	6246874	6246874	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC1137T																					ENST00000234875.4:c.245A>G	p.Tyr82Cys	p.Y82C	ENST00000234875	NM_000983.3	82	tAt/tGt	0	not done		probablydamaging	
RP11-299H22.3		inserm.fr	GRCh37	15	62539525	62539525	+	non_coding_transcript_exon_variant	RNA	SNP	T	C	C			BCM695T																					ENST00000429274.2:n.348A>G		*116*	ENST00000429274				0	validated			
PFKFB3		inserm.fr	GRCh37	10	6255709	6255709	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	C	C			CHC433T									Valid												ENST00000379775.4:c.200A>C	p.Lys67Thr	p.K67T	ENST00000379775	NM_004566.3	67	aAa/aCa	0	validated		probablydamaging	
ASPH		inserm.fr	GRCh37	8	62557193	62557193	+	splice_acceptor_variant	Splice_Site	SNP	T	C	C			CHC1774T																					ENST00000379454.4:c.620-2A>G		p.X207_splice	ENST00000379454	NM_004318.3			0	validated		damaging	
TMEM223		inserm.fr	GRCh37	11	62559154	62559154	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB157T																					ENST00000307366.7:c.313A>G	p.Ile105Val	p.I105V	ENST00000307366	NM_001080501.2	105	Atc/Gtc	0	validated		benign	
NXF1		inserm.fr	GRCh37	11	62561816	62561816	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1915T									Valid												ENST00000532297.1:c.1674C>G	p.Ser558Arg	p.S558R	ENST00000532297		558	agC/agG	0	validated		probablydamaging	
UCKL1		inserm.fr	GRCh37	20	62571803	62571803	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1741T																					ENST00000354216.6:c.1338T>G	p.Asp446Glu	p.D446E	ENST00000354216	NM_017859.3	446	gaT/gaG	0	not done		benign	
ASPH		inserm.fr	GRCh37	8	62588657	62588657	+	intron_variant	Intron	SNP	T	C	C			CHC805T																					ENST00000379454.4:c.322+4870A>G		*108*	ENST00000379454	NM_004318.3			0	not done			
SAMD10		inserm.fr	GRCh37	20	62608438	62608438	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC898T																					ENST00000369886.3:c.331C>G	p.Leu111Val	p.L111V	ENST00000369886	NM_080621.4	111	Ctg/Gtg	0	not done		probablydamaging	
L1TD1		inserm.fr	GRCh37	1	62676571	62676571	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2115T																					ENST00000498273.1:c.2125G>C	p.Glu709Gln	p.E709Q	ENST00000498273	NM_019079.4	709	Gaa/Caa	0	not done		probablydamaging	
LPHN3		inserm.fr	GRCh37	4	62778477	62778477	+	splice_donor_variant	Splice_Site	SNP	T	C	C			CHC794T									Valid												ENST00000514591.1:c.1908+2T>C		p.X636_splice	ENST00000514591				0	validated		damaging	
F13A1		inserm.fr	GRCh37	6	6305697	6305697	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1148T																					ENST00000264870.3:c.206A>G	p.Lys69Arg	p.K69R	ENST00000264870	NM_000129.3	69	aAg/aGg	0	not done		benign	
FAM123B		inserm.fr	GRCh37	X	63412401	63412401	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1082T																					ENST00000330258.3:c.766A>G	p.Lys256Glu	p.K256E	ENST00000330258	NM_152424.3	256	Aaa/Gaa	0	validated		probablydamaging	
CDH7		inserm.fr	GRCh37	18	63481770	63481770	+	synonymous_variant	Silent	SNP	T	C	C			CHC1148T																					ENST00000397968.2:c.555T>C	p.Tyr185=	p.Y185=	ENST00000397968	NM_004361.2	185	taT/taC	0	not done		synonymous	
RNF180		inserm.fr	GRCh37	5	63513201	63513201	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2141T																					ENST00000389100.4:c.1205G>C	p.Gly402Ala	p.G402A	ENST00000389100	NM_001113561.1	402	gGa/gCa	0	not done		benign	
ZNF727		inserm.fr	GRCh37	7	63538768	63538768	+	synonymous_variant	Silent	SNP	T	C	C			CHC1741T																					ENST00000550760.3:c.1341T>C	p.Thr447=	p.T447=	ENST00000550760	NM_001159522.1	447	acT/acC	0	not done		synonymous	
CDH7		inserm.fr	GRCh37	18	63547971	63547971	+	synonymous_variant	Silent	SNP	T	C	C			CHC314T																					ENST00000397968.2:c.2199T>C	p.Tyr733=	p.Y733=	ENST00000397968	NM_004361.2	733	taT/taC	0	validated		synonymous	
RHOJ		inserm.fr	GRCh37	14	63671753	63671753	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2112T																					ENST00000316754.3:c.166G>C	p.Asp56His	p.D56H	ENST00000316754	NM_020663.4	56	Gac/Cac	0	not done		probablydamaging	
ZNF679		inserm.fr	GRCh37	7	63726522	63726522	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2103T																					ENST00000421025.1:c.511T>C	p.Ser171Pro	p.S171P	ENST00000421025	NM_153363.2	171	Tcc/Ccc	0	not done		benign	
HERC1		inserm.fr	GRCh37	15	63932428	63932428	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM275T																					ENST00000443617.2:c.11824A>G	p.Asn3942Asp	p.N3942D	ENST00000443617	NM_003922.3	3942	Aat/Gat	0	validated		benign	
CEP112		inserm.fr	GRCh37	17	63957627	63957627	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1010T																					ENST00000392769.2:c.1826A>G	p.Gln609Arg	p.Q609R	ENST00000392769	NM_145036.3	609	cAg/cGg	0	not done		possiblydamaging	
LGSN		inserm.fr	GRCh37	6	63990654	63990654	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC796T																					ENST00000370657.4:c.802A>G	p.Ile268Val	p.I268V	ENST00000370657		268	Atc/Gtc	0	validated		benign	
HERC1		inserm.fr	GRCh37	15	64005647	64005647	+	synonymous_variant	Silent	SNP	T	C	C			BCB109T																					ENST00000443617.2:c.4368A>G	p.Val1456=	p.V1456=	ENST00000443617	NM_003922.3	1456	gtA/gtG	0	validated		synonymous	
HERC1		inserm.fr	GRCh37	15	64017593	64017593	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1756T																					ENST00000443617.2:c.3466A>G	p.Met1156Val	p.M1156V	ENST00000443617	NM_003922.3	1156	Atg/Gtg	0	not done		possiblydamaging	
PRICKLE2		inserm.fr	GRCh37	3	64085571	64085571	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1746T																					ENST00000295902.6:c.1691A>G	p.Gln564Arg	p.Q564R	ENST00000295902	NM_198859.3	564	cAg/cGg	0	not done		possiblydamaging	
UGP2		inserm.fr	GRCh37	2	64111176	64111176	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1207T																					ENST00000337130.5:c.524T>C	p.Leu175Pro	p.L175P	ENST00000337130	NM_006759.3	175	cTa/cCa	0	not done		probablydamaging	
VPS54		inserm.fr	GRCh37	2	64161082	64161082	+	synonymous_variant	Silent	SNP	T	C	C			CHC1708T																					ENST00000272322.4:c.1464A>G	p.Glu488=	p.E488=	ENST00000272322		488	gaA/gaG	0	not done		synonymous	
CDH19		inserm.fr	GRCh37	18	64212076	64212076	+	synonymous_variant	Silent	SNP	T	C	C			CHC1626T																					ENST00000262150.2:c.840A>G	p.Ala280=	p.A280=	ENST00000262150	NM_021153.3	280	gcA/gcG	0	not done		synonymous	
SLC25A41		inserm.fr	GRCh37	19	6433585	6433585	+	synonymous_variant	Silent	SNP	T	C	C			CHC314T																					ENST00000321510.6:c.120A>G	p.Pro40=	p.P40=	ENST00000321510	NM_173637.3	40	ccA/ccG	0	validated		synonymous	
UHRF2		inserm.fr	GRCh37	9	6434150	6434150	+	synonymous_variant	Silent	SNP	T	C	C			CHC1209T																					ENST00000276893.5:c.621T>C	p.Val207=	p.V207=	ENST00000276893	NM_152896.2	207	gtT/gtC	0	not done		synonymous	
PLEKHG6		inserm.fr	GRCh37	12	6436704	6436704	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1211T																					ENST00000396988.3:c.1955G>C	p.Gly652Ala	p.G652A	ENST00000396988	NM_001144856.1	652	gGa/gCa	0	not done		benign	
SNX1		inserm.fr	GRCh37	15	64430269	64430269	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM423T																					ENST00000261889.5:c.1547G>C	p.Gly516Ala	p.G516A	ENST00000261889	NM_001242933.1	516	gGa/gCa	0	validated			
SNX22		inserm.fr	GRCh37	15	64446683	64446683	+	synonymous_variant	Silent	SNP	T	C	C			CHC1747T																					ENST00000325881.4:c.558T>C	p.Pro186=	p.P186=	ENST00000325881	NM_024798.2	186	ccT/ccC	0	not done		synonymous	
NRXN2		inserm.fr	GRCh37	11	64480880	64480880	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1744T																					ENST00000265459.6:c.292C>G	p.Pro98Ala	p.P98A	ENST00000265459	NM_015080.3	98	Ccg/Gcg	0	not done		benign	
HPX		inserm.fr	GRCh37	11	6461414	6461414	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1603T																					ENST00000265983.3:c.317A>G	p.Asn106Ser	p.N106S	ENST00000265983	NM_000613.2	106	aAc/aGc	0	not done		benign	
ROR1		inserm.fr	GRCh37	1	64643768	64643768	+	synonymous_variant	Silent	SNP	T	C	C			CHC879T																					ENST00000371079.1:c.2044T>C	p.Leu682=	p.L682=	ENST00000371079	NM_005012.3	682	Ttg/Ctg	0	not done		synonymous	
SCNN1A		inserm.fr	GRCh37	12	6465044	6465044	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC205T									Valid												ENST00000360168.3:c.1055A>G	p.Asn352Ser	p.N352S	ENST00000360168	NM_001159576.1	352	aAt/aGt	0	validated		possiblydamaging	
ATG2A		inserm.fr	GRCh37	11	64664961	64664961	+	synonymous_variant	Silent	SNP	A	C	C			CHC923T																					ENST00000377264.3:c.5073T>G	p.Thr1691=	p.T1691=	ENST00000377264	NM_015104.2	1691	acT/acG	0	not done		synonymous	
SYNE2		inserm.fr	GRCh37	14	64682022	64682022	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC917T																					ENST00000358025.3:c.19352A>C	p.Asn6451Thr	p.N6451T	ENST00000358025	NM_182914.2	6451	aAt/aCt	0	validated		probablydamaging	
ESR2		inserm.fr	GRCh37	14	64701769	64701769	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1192T																					ENST00000341099.4:c.1325C>G	p.Ala442Gly	p.A442G	ENST00000341099	NM_001437.2	442	gCc/gGc	0	not done		benign	
SAC3D1		inserm.fr	GRCh37	11	64809109	64809109	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1534T																					ENST00000398846.1:c.345G>C	p.Gln115His	p.Q115H	ENST00000398846	NM_013299.3	115	caG/caC	0	validated		probablydamaging	
PRKCQ		inserm.fr	GRCh37	10	6483910	6483910	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1152T																					ENST00000263125.5:c.1781A>G	p.Asp594Gly	p.D594G	ENST00000263125	NM_006257.3	594	gAc/gGc	0	not done		probablydamaging	
TBK1		inserm.fr	GRCh37	12	64891452	64891452	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC912T																					ENST00000331710.5:c.1984A>C	p.Met662Leu	p.M662L	ENST00000331710	NM_013254.3	662	Atg/Ctg	0	validated		benign	
JMJD1C		inserm.fr	GRCh37	10	64936061	64936061	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1741T																					ENST00000399262.2:c.7397A>G	p.His2466Arg	p.H2466R	ENST00000399262	NM_032776.1	2466	cAt/cGt	0	not done		probablydamaging	
JMJD1C		inserm.fr	GRCh37	10	64953148	64953148	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB301T																					ENST00000399262.2:c.5819A>G	p.Asn1940Ser	p.N1940S	ENST00000399262	NM_032776.1	1940	aAt/aGt	0	validated		benign	
ZNF609		inserm.fr	GRCh37	15	64967762	64967762	+	synonymous_variant	Silent	SNP	T	C	C			CHC218T																					ENST00000326648.3:c.2709T>C	p.Tyr903=	p.Y903=	ENST00000326648	NM_015042.1	903	taT/taC	0	not done		synonymous	
SLC22A20		inserm.fr	GRCh37	11	64981718	64981718	+	non_coding_transcript_exon_variant	RNA	SNP	G	C	C			CHC313T																					ENST00000525264.1:n.400G>C		*134*	ENST00000525264				0	validated		synonymous	
PPP1R36		inserm.fr	GRCh37	14	65031467	65031467	+	splice_acceptor_variant	Splice_Site	SNP	A	C	C			CHC1566T																					ENST00000298705.1:c.183-2A>C		p.X61_splice	ENST00000298705	NM_172365.1			0	not done		possiblydamaging	
RBPMS2		inserm.fr	GRCh37	15	65041214	65041214	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1774T																					ENST00000300069.4:c.403A>G	p.Ile135Val	p.I135V	ENST00000300069	NM_194272.1	135	Atc/Gtc	0	validated		benign	
HELZ		inserm.fr	GRCh37	17	65103783	65103783	+	synonymous_variant	Silent	SNP	T	C	C			BCM325T																					ENST00000358691.5:c.4743A>G	p.Arg1581=	p.R1581=	ENST00000358691	NM_014877.3	1581	agA/agG	0	validated		synonymous	
ANKDD1A		inserm.fr	GRCh37	15	65235696	65235696	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB231T																					ENST00000380230.3:c.983T>C	p.Leu328Pro	p.L328P	ENST00000380230	NM_182703.3	328	cTt/cCt	0	validated		probablydamaging	
ANKDD1A		inserm.fr	GRCh37	15	65242180	65242180	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC301T									Valid												ENST00000380230.3:c.1470G>C	p.Arg490Ser	p.R490S	ENST00000380230	NM_182703.3	490	agG/agC	0	validated		probablydamaging	
VSIG4		inserm.fr	GRCh37	X	65242334	65242334	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1746T																					ENST00000374737.4:c.971C>G	p.Ala324Gly	p.A324G	ENST00000374737	NM_001257403.1	324	gCc/gGc	0	not done		benign	
RAVER2		inserm.fr	GRCh37	1	65255178	65255178	+	synonymous_variant	Silent	SNP	T	C	C			CHC801T																					ENST00000371072.4:c.1086T>C	p.Cys362=	p.C362=	ENST00000371072	NM_018211.3	362	tgT/tgC	0	not done		synonymous	
SCYL1		inserm.fr	GRCh37	11	65304500	65304500	+	synonymous_variant	Silent	SNP	A	C	C			CHC793T																					ENST00000270176.5:c.1860A>C	p.Thr620=	p.T620=	ENST00000270176	NM_020680.3	620	acA/acC	0	validated		synonymous	
MAGI1		inserm.fr	GRCh37	3	65367586	65367586	+	synonymous_variant	Silent	SNP	G	C	C			CHC2029T																					ENST00000402939.2:c.2667C>G	p.Val889=	p.V889=	ENST00000402939	NM_001033057.1	889	gtC/gtG	0	not done		synonymous	
SREK1		inserm.fr	GRCh37	5	65459686	65459686	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC314T									Valid												ENST00000334121.6:c.822G>C	p.Glu274Asp	p.E274D	ENST00000334121	NM_001270492.1	274	gaG/gaC	0	validated		probablydamaging	
BHLHE22		inserm.fr	GRCh37	8	65493673	65493673	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1568T																					ENST00000321870.1:c.326G>C	p.Gly109Ala	p.G109A	ENST00000321870	NM_152414.4	109	gGc/gCc	0	not done		probablydamaging	
SPRED2		inserm.fr	GRCh37	2	65543881	65543881	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM617T									Valid												ENST00000356388.4:c.575A>G	p.Tyr192Cys	p.Y192C	ENST00000356388	NM_181784.2	192	tAt/tGt	0	validated		possiblydamaging	
EYS		inserm.fr	GRCh37	6	65596681	65596681	+	synonymous_variant	Silent	SNP	T	C	C			BCB111T																					ENST00000503581.1:c.2901A>G	p.Val967=	p.V967=	ENST00000503581	NM_001142800.1	967	gtA/gtG	0	validated		synonymous	
DNHD1		inserm.fr	GRCh37	11	6568805	6568805	+	synonymous_variant	Silent	SNP	A	C	C			CHC1746T																					ENST00000254579.6:c.6636A>C	p.Ala2212=	p.A2212=	ENST00000254579	NM_144666.2	2212	gcA/gcC	0	not done		synonymous	
DPP8		inserm.fr	GRCh37	15	65759530	65759530	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM489T																					ENST00000341861.5:c.1616A>G	p.Tyr539Cys	p.Y539C	ENST00000341861	NM_197960.2	539	tAt/tGt	0	validated		possiblydamaging	
CATSPER1		inserm.fr	GRCh37	11	65792960	65792960	+	synonymous_variant	Silent	SNP	T	C	C			CHC1738T																					ENST00000312106.5:c.891A>G	p.Arg297=	p.R297=	ENST00000312106	NM_053054.3	297	cgA/cgG	0	not done		synonymous	
CATSPER1		inserm.fr	GRCh37	11	65793830	65793830	+	synonymous_variant	Silent	SNP	A	C	C			CHC1598T																					ENST00000312106.5:c.21T>G	p.Pro7=	p.P7=	ENST00000312106	NM_053054.3	7	ccT/ccG	0	not done		synonymous	
EDA2R		inserm.fr	GRCh37	X	65819400	65819400	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM545T																					ENST00000450752.1:c.883T>G	p.Leu295Val	p.L295V	ENST00000450752		295	Ttg/Gtg	0	validated		benign	
C15orf44		inserm.fr	GRCh37	15	65892262	65892262	+	synonymous_variant	Silent	SNP	G	C	C			CHC301T																					ENST00000420799.2:c.165C>G	p.Val55=	p.V55=	ENST00000420799	NM_001207059.1	55	gtC/gtG	0	validated		synonymous	
DNHD1		inserm.fr	GRCh37	11	6591561	6591561	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM423T																					ENST00000254579.6:c.13040G>C	p.Ser4347Thr	p.S4347T	ENST00000254579	NM_144666.2	4347	aGt/aCt	0	validated		benign	
SLC13A5		inserm.fr	GRCh37	17	6604324	6604324	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC301T																					ENST00000433363.2:c.838A>G	p.Asn280Asp	p.N280D	ENST00000433363	NM_177550.3	280	Aat/Gat	0	validated		damaging	
GLDC		inserm.fr	GRCh37	9	6610291	6610291	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM257T																					ENST00000321612.6:c.536A>G	p.Tyr179Cys	p.Y179C	ENST00000321612	NM_000170.2	179	tAc/tGc	0	validated		probablydamaging	
ZDHHC4		inserm.fr	GRCh37	7	6621715	6621715	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2358T																					ENST00000396706.2:c.203T>C	p.Phe68Ser	p.F68S	ENST00000396706		68	tTc/tCc	0	validated		probablydamaging	
HMGA2		inserm.fr	GRCh37	12	66219059	66219059	+	synonymous_variant	Silent	SNP	A	C	C			BCB151T																					ENST00000403681.2:c.9A>C	p.Ala3=	p.A3=	ENST00000403681	NM_003483.4	3	gcA/gcC	0	validated		synonymous	
BBS1		inserm.fr	GRCh37	11	66278161	66278161	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1083T																					ENST00000318312.7:c.31G>C	p.Ala11Pro	p.A11P	ENST00000318312	NM_024649.4	11	Gcc/Ccc	0	validated		benign	
NCAPD2		inserm.fr	GRCh37	12	6630962	6630962	+	splice_acceptor_variant	Splice_Site	SNP	A	C	C			CHC1603T																					ENST00000315579.5:c.1715-2A>C		p.X572_splice	ENST00000315579	NM_014865.3			0	not done		possiblydamaging	
TMX3		inserm.fr	GRCh37	18	66364503	66364503	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1545T																					ENST00000299608.2:c.530A>G	p.Tyr177Cys	p.Y177C	ENST00000299608	NM_019022.3	177	tAt/tGt	0	not done		probablydamaging	
NCAPD2		inserm.fr	GRCh37	12	6639868	6639868	+	synonymous_variant	Silent	SNP	T	C	C			CHC155T																					ENST00000315579.5:c.3849T>C	p.Asp1283=	p.D1283=	ENST00000315579	NM_014865.3	1283	gaT/gaC	0	validated		synonymous	
NCAPD2		inserm.fr	GRCh37	12	6639872	6639872	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC155T																					ENST00000315579.5:c.3853T>C	p.Phe1285Leu	p.F1285L	ENST00000315579	NM_014865.3	1285	Ttt/Ctt	0	validated		benign	
WIPI1		inserm.fr	GRCh37	17	66432603	66432603	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM791T																					ENST00000262139.5:c.448A>G	p.Ile150Val	p.I150V	ENST00000262139	NM_017983.5	150	Atc/Gtc	0	validated		benign	
WIPI1		inserm.fr	GRCh37	17	66432618	66432618	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			BCM791T																					ENST00000262139.5:c.433C>G	p.Leu145Val	p.L145V	ENST00000262139	NM_017983.5	145	Cta/Gta	0	validated		possiblydamaging	
CD180		inserm.fr	GRCh37	5	66479290	66479290	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1061T									Valid												ENST00000256447.4:c.1381A>G	p.Asn461Asp	p.N461D	ENST00000256447	NM_005582.2	461	Aat/Gat	0	validated		possiblydamaging	
FAM20A		inserm.fr	GRCh37	17	66538842	66538842	+	synonymous_variant	Silent	SNP	G	C	C			CHC433T																					ENST00000592554.1:c.921C>G	p.Val307=	p.V307=	ENST00000592554	NM_001243746.1	307	gtC/gtG	0	validated		synonymous	
SRD5A1		inserm.fr	GRCh37	5	6656241	6656241	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC923T																					ENST00000274192.5:c.511A>C	p.Ile171Leu	p.I171L	ENST00000274192	NM_001047.2	171	Atc/Ctc	0	not done		benign	
SRD5A1		inserm.fr	GRCh37	5	6656250	6656250	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC923T																					ENST00000274192.5:c.520A>C	p.Asn174His	p.N174H	ENST00000274192	NM_001047.2	174	Aat/Cat	0	not done		benign	
NOP2		inserm.fr	GRCh37	12	6666277	6666277	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC884T																					ENST00000382421.3:c.2420A>G	p.Asn807Ser	p.N807S	ENST00000382421	NM_001258309.1	807	aAt/aGt	0	validated		benign	
CMTM4		inserm.fr	GRCh37	16	66670361	66670361	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2127T																					ENST00000330687.4:c.310A>G	p.Met104Val	p.M104V	ENST00000330687	NM_181521.2	104	Atg/Gtg	0	not done		benign	
SRD5A1		inserm.fr	GRCh37	5	6668349	6668349	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC884T																					ENST00000274192.5:c.748T>C	p.Phe250Leu	p.F250L	ENST00000274192	NM_001047.2	250	Ttc/Ctc	0	validated		benign	
SRD5A1		inserm.fr	GRCh37	5	6668358	6668358	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM501T									Valid												ENST00000274192.5:c.757A>C	p.Ile253Leu	p.I253L	ENST00000274192	NM_001047.2	253	Att/Ctt	0	validated		possiblydamaging	
RPL4		inserm.fr	GRCh37	15	66793745	66793745	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM739T																					ENST00000307961.6:c.644A>G	p.Asn215Ser	p.N215S	ENST00000307961	NM_000968.3	215	aAt/aGt	0	validated		benign	
ZWILCH		inserm.fr	GRCh37	15	66813414	66813414	+	synonymous_variant	Silent	SNP	T	C	C			CHC1566T																					ENST00000307897.5:c.618T>C	p.Tyr206=	p.Y206=	ENST00000307897	NM_017975.3	206	taT/taC	0	not done		synonymous	
GRIP1		inserm.fr	GRCh37	12	66849234	66849234	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM269T									Valid												ENST00000398016.3:c.1153A>G	p.Thr385Ala	p.T385A	ENST00000398016	NM_021150.3	385	Acc/Gcc	0	validated		possiblydamaging	
ABCA8		inserm.fr	GRCh37	17	66890434	66890434	+	synonymous_variant	Silent	SNP	T	C	C			CHC1715T																					ENST00000269080.2:c.2796A>G	p.Leu932=	p.L932=	ENST00000269080	NM_007168.2	932	ttA/ttG	0	not done		synonymous	
GRIP1		inserm.fr	GRCh37	12	66909409	66909409	+	synonymous_variant	Silent	SNP	G	C	C			CHC909T																					ENST00000398016.3:c.714C>G	p.Val238=	p.V238=	ENST00000398016	NM_021150.3	238	gtC/gtG	0	not done		synonymous	
KDM2A		inserm.fr	GRCh37	11	66983419	66983419	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	C	C			CHC917T																					ENST00000529006.2:c.686A>C	p.Lys229Thr	p.K229T	ENST00000529006	NM_012308.2	229	aAg/aCg	0	validated		probablydamaging	
MRPL17		inserm.fr	GRCh37	11	6704486	6704486	+	synonymous_variant	Silent	SNP	T	C	C			CHC891T																					ENST00000288937.6:c.42A>G	p.Val14=	p.V14=	ENST00000288937	NM_022061.3	14	gtA/gtG	0	not done		synonymous	
SMAD6		inserm.fr	GRCh37	15	67073567	67073567	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC097T																					ENST00000288840.5:c.1185G>C	p.Lys395Asn	p.K395N	ENST00000288840	NM_005585.4	395	aaG/aaC	0	not done		probablydamaging	
TYMS		inserm.fr	GRCh37	18	670741	670741	+	synonymous_variant	Silent	SNP	T	C	C			CHC1041T																					ENST00000323274.10:c.606T>C	p.Tyr202=	p.Y202=	ENST00000323274	NM_001071.2	202	taT/taC	0	validated		synonymous	
SSH3		inserm.fr	GRCh37	11	67075149	67075149	+	synonymous_variant	Silent	SNP	T	C	C			CHC433T																					ENST00000308127.4:c.732T>C	p.Asn244=	p.N244=	ENST00000308127	NM_017857.3	244	aaT/aaC	0	validated		synonymous	
ABCA6		inserm.fr	GRCh37	17	67079042	67079042	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1774T																					ENST00000284425.2:c.4588C>G	p.Leu1530Val	p.L1530V	ENST00000284425	NM_080284.2	1530	Ctt/Gtt	0	validated		benign	
TRIM55		inserm.fr	GRCh37	8	67086768	67086768	+	synonymous_variant	Silent	SNP	T	C	C			CHC320T																					ENST00000315962.4:c.1587T>C	p.Ala529=	p.A529=	ENST00000315962	NM_184085.1	529	gcT/gcC	0	validated		synonymous	
CHD4		inserm.fr	GRCh37	12	6709000	6709000	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2362T																					ENST00000357008.2:c.1421A>G	p.His474Arg	p.H474R	ENST00000357008	NM_001273.2	474	cAc/cGc	0	validated		probablydamaging	
TBC1D10C		inserm.fr	GRCh37	11	67172875	67172875	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1598T																					ENST00000312390.5:c.258G>C	p.Lys86Asn	p.K86N	ENST00000312390	NM_198517.3	86	aaG/aaC	0	not done		probablydamaging	
WDR78		inserm.fr	GRCh37	1	67292560	67292560	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1611T																					ENST00000371026.3:c.2282A>G	p.Tyr761Cys	p.Y761C	ENST00000371026	NM_024763.4	761	tAt/tGt	0	not done		benign	
WDR78		inserm.fr	GRCh37	1	67303436	67303436	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM275T									Valid												ENST00000371026.3:c.1538A>G	p.Gln513Arg	p.Q513R	ENST00000371026	NM_024763.4	513	cAa/cGa	0	validated		probablydamaging	
ABCA5		inserm.fr	GRCh37	17	67309350	67309350	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM275T																					ENST00000392676.3:c.190A>G	p.Ile64Val	p.I64V	ENST00000392676		64	Ata/Gta	0	validated		benign	
SMAD3		inserm.fr	GRCh37	15	67358637	67358637	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC304T									Valid												ENST00000327367.4:c.145G>C	p.Asp49His	p.D49H	ENST00000327367	NM_005902.3	49	Gac/Cac	0	validated		possiblydamaging	
TRIP10		inserm.fr	GRCh37	19	6744824	6744824	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC433T									Valid												ENST00000313285.8:c.803T>C	p.Leu268Pro	p.L268P	ENST00000313285	NM_004240.2	268	cTt/cCt	0	validated		probablydamaging	
SH2D3A		inserm.fr	GRCh37	19	6754420	6754420	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM769T									Valid												ENST00000245908.6:c.1114C>G	p.Leu372Val	p.L372V	ENST00000245908	NM_005490.2	372	Ctg/Gtg	0	validated		possiblydamaging	
ACRBP		inserm.fr	GRCh37	12	6754496	6754496	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2141T																					ENST00000229243.2:c.365T>G	p.Leu122Arg	p.L122R	ENST00000229243	NM_032489.2	122	cTg/cGg	0	not done		benign	
CD226		inserm.fr	GRCh37	18	67563245	67563245	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2215T																					ENST00000280200.4:c.419T>G	p.Ile140Ser	p.I140S	ENST00000280200	NM_006566.2	140	aTt/aGt	0	not done		possiblydamaging	
PIK3R1		inserm.fr	GRCh37	5	67576440	67576440	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM783T																					ENST00000274335.5:c.719T>C	p.Leu240Pro	p.L240P	ENST00000274335		240	cTt/cCt	0	validated		possiblydamaging	
VCPIP1		inserm.fr	GRCh37	8	67577653	67577653	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1597T																					ENST00000310421.4:c.1541A>G	p.Asn514Ser	p.N514S	ENST00000310421	NM_025054.4	514	aAt/aGt	0	not done		benign	
CAND1		inserm.fr	GRCh37	12	67675695	67675695	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB111T									Valid												ENST00000545606.1:c.74T>C	p.Met25Thr	p.M25T	ENST00000545606	NM_018448.3	25	aTg/aCg	0	validated		probablydamaging	
CAND1		inserm.fr	GRCh37	12	67700013	67700013	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1731T																					ENST00000545606.1:c.2565G>C	p.Leu855Phe	p.L855F	ENST00000545606	NM_018448.3	855	ttG/ttC	0	not done		benign	
MPP5		inserm.fr	GRCh37	14	67784173	67784173	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1594T																					ENST00000261681.4:c.1346T>C	p.Leu449Ser	p.L449S	ENST00000261681	NM_022474.3	449	tTa/tCa	0	not done		benign	
RTTN		inserm.fr	GRCh37	18	67812943	67812943	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC097T																					ENST00000255674.6:c.2386A>G	p.Ile796Val	p.I796V	ENST00000255674	NM_173630.3	796	Ata/Gta	0	not done		benign	
ATP6V1D		inserm.fr	GRCh37	14	67826391	67826391	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC155T																					ENST00000216442.7:c.25A>G	p.Ile9Val	p.I9V	ENST00000216442	NM_015994.3	9	Atc/Gtc	0	validated		benign	
SUV420H1		inserm.fr	GRCh37	11	67925639	67925639	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC909T																					ENST00000304363.4:c.2174A>G	p.Asp725Gly	p.D725G	ENST00000304363	NM_017635.3	725	gAt/gGt	0	not done		probablydamaging	
ANKRD20A1		inserm.fr	GRCh37	9	67934749	67934749	+	synonymous_variant	Silent	SNP	T	C	C			CHC1052T																					ENST00000377477.2:c.519T>C	p.Ala173=	p.A173=	ENST00000377477	NM_032250.3	173	gcT/gcC	0	validated		synonymous	
SLC12A4		inserm.fr	GRCh37	16	67980243	67980243	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC205T									Valid												ENST00000422611.2:c.2444A>G	p.Asp815Gly	p.D815G	ENST00000422611	NM_001145962.1	815	gAc/gGc	0	validated		damaging	
C11orf24		inserm.fr	GRCh37	11	68029888	68029888	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM735T																					ENST00000304271.6:c.575T>G	p.Leu192Arg	p.L192R	ENST00000304271	NM_022338.3	192	cTc/cGc	0	validated		probablydamaging	
ARG2		inserm.fr	GRCh37	14	68086780	68086780	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM739T																					ENST00000261783.3:c.86T>C	p.Ile29Thr	p.I29T	ENST00000261783	NM_001172.3	29	aTa/aCa	0	validated		possiblydamaging	
KCNJ16		inserm.fr	GRCh37	17	68128777	68128777	+	synonymous_variant	Silent	SNP	T	C	C			CHC1602T																					ENST00000392670.1:c.549T>C	p.Arg183=	p.R183=	ENST00000392670		183	cgT/cgC	0	not done		synonymous	
ARFGEF1		inserm.fr	GRCh37	8	68145160	68145160	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1531T																					ENST00000262215.3:c.3310A>G	p.Lys1104Glu	p.K1104E	ENST00000262215	NM_006421.4	1104	Aaa/Gaa	0	not done		benign	
OR6A2		inserm.fr	GRCh37	11	6815999	6815999	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1751T																					ENST00000332601.3:c.941A>G	p.Gln314Arg	p.Q314R	ENST00000332601	NM_003696.2	314	cAg/cGg	0	not done		benign	
OR6A2		inserm.fr	GRCh37	11	6816122	6816122	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T									Valid												ENST00000332601.3:c.818T>G	p.Phe273Cys	p.F273C	ENST00000332601	NM_003696.2	273	tTt/tGt	0	validated		probablydamaging	
SLC7A6		inserm.fr	GRCh37	16	68308960	68308960	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1743T																					ENST00000566454.1:c.331A>C	p.Ser111Arg	p.S111R	ENST00000566454	NM_001076785.2	111	Agc/Cgc	0	not done		probablydamaging	
MTL5		inserm.fr	GRCh37	11	68475800	68475800	+	synonymous_variant	Silent	SNP	T	C	C			CHC1725T																					ENST00000255087.5:c.1503A>G	p.Lys501=	p.K501=	ENST00000255087	NM_004923.3	501	aaA/aaG	0	not done		synonymous	
UBA6		inserm.fr	GRCh37	4	68488931	68488931	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1738T																					ENST00000322244.5:c.2850A>G	p.Ile950Met	p.I950M	ENST00000322244	NM_018227.5	950	atA/atG	0	not done		possiblydamaging	
CPT1A		inserm.fr	GRCh37	11	68542831	68542831	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM483T																					ENST00000265641.5:c.1528C>G	p.Pro510Ala	p.P510A	ENST00000265641	NM_001876.3	510	Ccg/Gcg	0	validated		benign	
WLS		inserm.fr	GRCh37	1	68564384	68564384	+	synonymous_variant	Silent	SNP	T	C	C			CHC155T																					ENST00000354777.2:c.1563A>G	p.Glu521=	p.E521=	ENST00000354777	NM_001002292.3	521	gaA/gaG	0	validated		synonymous	
MLF2		inserm.fr	GRCh37	12	6859417	6859417	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1598T																					ENST00000203630.5:c.325T>G	p.Ser109Ala	p.S109A	ENST00000203630		109	Tcc/Gcc	0	not done		probablydamaging	
RAD17		inserm.fr	GRCh37	5	68689247	68689247	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM265T									Valid												ENST00000509734.1:c.1375G>C	p.Asp459His	p.D459H	ENST00000509734		459	Gat/Cat	0	validated		probablydamaging	
CDH3		inserm.fr	GRCh37	16	68712082	68712082	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1052T																					ENST00000264012.4:c.292T>C	p.Ser98Pro	p.S98P	ENST00000264012	NM_001793.4	98	Tcc/Ccc	0	validated		benign	
CDH1		inserm.fr	GRCh37	16	68862189	68862189	+	synonymous_variant	Silent	SNP	A	C	C			CHC798T																					ENST00000261769.5:c.2277A>C	p.Gly759=	p.G759=	ENST00000261769	NM_004360.3	759	ggA/ggC	0	validated		synonymous	
KDM4C		inserm.fr	GRCh37	9	6888034	6888034	+	synonymous_variant	Silent	SNP	T	C	C			CHC2098T																					ENST00000381309.3:c.754T>C	p.Leu252=	p.L252=	ENST00000381309	NM_015061.3	252	Ttg/Ctg	0	not done		synonymous	
OR10A2		inserm.fr	GRCh37	11	6891216	6891216	+	synonymous_variant	Silent	SNP	A	C	C			CHC1154T																					ENST00000307322.4:c.231A>C	p.Thr77=	p.T77=	ENST00000307322	NM_001004460.1	77	acA/acC	0	not done		synonymous	
PREX2		inserm.fr	GRCh37	8	68965367	68965367	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC197T									Valid												ENST00000288368.4:c.979G>C	p.Gly327Arg	p.G327R	ENST00000288368	NM_024870.2	327	Gga/Cga	0	validated		probablydamaging	
PREX2		inserm.fr	GRCh37	8	68982116	68982116	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1192T																					ENST00000288368.4:c.1490T>C	p.Ile497Thr	p.I497T	ENST00000288368	NM_024870.2	497	aTa/aCa	0	not done		benign	
PREX2		inserm.fr	GRCh37	8	68992812	68992812	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC898T																					ENST00000288368.4:c.1777T>C	p.Ser593Pro	p.S593P	ENST00000288368	NM_024870.2	593	Tca/Cca	0	not done		benign	
PREX2		inserm.fr	GRCh37	8	69033183	69033183	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC303T																					ENST00000288368.4:c.3623T>C	p.Leu1208Pro	p.L1208P	ENST00000288368	NM_024870.2	1208	cTg/cCg	0	validated		probablydamaging	
ARHGAP25		inserm.fr	GRCh37	2	69049947	69049947	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1081T																					ENST00000409202.3:c.1676A>C	p.Gln559Pro	p.Q559P	ENST00000409202		559	cAa/cCa	0	validated		probablydamaging	
TMPRSS11B		inserm.fr	GRCh37	4	69101914	69101914	+	synonymous_variant	Silent	SNP	T	C	C			CHC1568T																					ENST00000332644.5:c.195A>G	p.Ala65=	p.A65=	ENST00000332644	NM_182502.3	65	gcA/gcG	0	not done		synonymous	
UBA3		inserm.fr	GRCh37	3	69111309	69111309	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC303T																					ENST00000361055.4:c.715A>G	p.Ile239Val	p.I239V	ENST00000361055	NM_003968.3	239	Att/Gtt	0	validated		probablydamaging	
EMR1		inserm.fr	GRCh37	19	6921838	6921838	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC891T																					ENST00000312053.4:c.1735T>C	p.Cys579Arg	p.C579R	ENST00000312053	NM_001974.4	579	Tgc/Cgc	0	not done		probablydamaging	
FRMD4B		inserm.fr	GRCh37	3	69265497	69265497	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1775T																					ENST00000398540.3:c.793A>G	p.Lys265Glu	p.K265E	ENST00000398540	NM_015123.1	265	Aag/Gag	0	validated		probablydamaging	
ANTXR1		inserm.fr	GRCh37	2	69329995	69329995	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2127T																					ENST00000303714.4:c.725G>C	p.Arg242Thr	p.R242T	ENST00000303714	NM_032208.2	242	aGa/aCa	0	not done		possiblydamaging	
TMED6		inserm.fr	GRCh37	16	69385472	69385472	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC303T																					ENST00000288025.3:c.185A>G	p.Gln62Arg	p.Q62R	ENST00000288025	NM_144676.3	62	cAg/cGg	0	validated		benign	
SLC16A13		inserm.fr	GRCh37	17	6939742	6939742	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1736T																					ENST00000308027.6:c.41G>C	p.Trp14Ser	p.W14S	ENST00000308027	NM_201566.2	14	tGg/tCg	0	not done		probablydamaging	
OR2D3		inserm.fr	GRCh37	11	6942451	6942451	+	synonymous_variant	Silent	SNP	T	C	C			BCM265T																					ENST00000317834.3:c.219T>C	p.Thr73=	p.T73=	ENST00000317834	NM_001004684.1	73	acT/acC	0	validated		synonymous	
FRMD4B		inserm.fr	GRCh37	3	69435086	69435086	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1207T																					ENST00000398540.3:c.55T>G	p.Phe19Val	p.F19V	ENST00000398540	NM_015123.1	19	Ttc/Gtc	0	not done		benign	
GFPT1		inserm.fr	GRCh37	2	69554093	69554093	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2352T																					ENST00000357308.4:c.2008C>G	p.Pro670Ala	p.P670A	ENST00000357308	NM_001244710.1	670	Cct/Gct	0	not done		probablydamaging	
UGT2B10		inserm.fr	GRCh37	4	69682144	69682144	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1192T																					ENST00000265403.7:c.407T>C	p.Met136Thr	p.M136T	ENST00000265403	NM_001075.4	136	aTg/aCg	0	not done		possiblydamaging	
AUTS2		inserm.fr	GRCh37	7	69755406	69755406	+	intron_variant	Intron	SNP	A	C	C			CHC1704T																					ENST00000342771.4:c.661-145332A>C		*221*	ENST00000342771	NM_015570.2			0	not done			
UGT2A3		inserm.fr	GRCh37	4	69816842	69816842	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC205T																					ENST00000251566.4:c.637A>G	p.Met213Val	p.M213V	ENST00000251566	NM_024743.3	213	Atg/Gtg	0	validated		benign	
UGT2A3		inserm.fr	GRCh37	4	69817340	69817340	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1751T																					ENST00000251566.4:c.139A>G	p.Ile47Val	p.I47V	ENST00000251566	NM_024743.3	47	Ata/Gta	0	not done		benign	
UGT2B10		inserm.fr	GRCh37	4	69875687	69875687	+	non_coding_transcript_exon_variant	RNA	SNP	G	C	C			CHC793T																					ENST00000505092.1:n.1074C>G		*358*	ENST00000505092				0	validated		benign	
PLEKHD1		inserm.fr	GRCh37	14	69951801	69951801	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC801T																					ENST00000322564.7:c.119T>C	p.Phe40Ser	p.F40S	ENST00000322564	NM_001161498.1	40	tTc/tCc	0	not done		probablydamaging	
FRS2		inserm.fr	GRCh37	12	69968147	69968147	+	synonymous_variant	Silent	SNP	T	C	C			CHC1736T																					ENST00000299293.2:c.939T>C	p.Ser313=	p.S313=	ENST00000299293	NM_001278353.1	313	tcT/tcC	0	not done		synonymous	
PBLD		inserm.fr	GRCh37	10	70043944	70043944	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1207T																					ENST00000358769.2:c.857T>G	p.Leu286Arg	p.L286R	ENST00000358769	NM_022129.3	286	cTg/cGg	0	not done		probablydamaging	
KDM4C		inserm.fr	GRCh37	9	7013887	7013887	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB325T									Valid												ENST00000381309.3:c.2068T>C	p.Cys690Arg	p.C690R	ENST00000381309	NM_015061.3	690	Tgt/Cgt	0	validated		probablydamaging	
PDPR		inserm.fr	GRCh37	16	70190444	70190444	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC796T																					ENST00000288050.4:c.2302A>C	p.Thr768Pro	p.T768P	ENST00000288050	NM_017990.3	768	Acc/Ccc	0	validated		benign	
AUTS2		inserm.fr	GRCh37	7	70227940	70227940	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC433T									Valid												ENST00000342771.4:c.827G>C	p.Arg276Thr	p.R276T	ENST00000342771	NM_015570.2	276	aGa/aCa	0	validated		probablydamaging	
LRRC23		inserm.fr	GRCh37	12	7023120	7023120	+	3_prime_UTR_variant	3'UTR	SNP	G	C	C			CHC1148T																					ENST00000007969.8:c.*90G>C		*30*	ENST00000007969	NM_201650.2			0	not done			
SRSF5		inserm.fr	GRCh37	14	70235934	70235934	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC614T																					ENST00000553521.1:c.332T>C	p.Ile111Thr	p.I111T	ENST00000553521		111	aTa/aCa	0	validated		probablydamaging	
SLC25A16		inserm.fr	GRCh37	10	70246936	70246936	+	synonymous_variant	Silent	SNP	T	C	C			CHC1592T																					ENST00000609923.1:c.807A>G	p.Gln269=	p.Q269=	ENST00000609923	NM_152707.3	269	caA/caG	0	not done		synonymous	
ENO2		inserm.fr	GRCh37	12	7025667	7025667	+	synonymous_variant	Silent	SNP	T	C	C			CHC1602T																					ENST00000535366.1:c.172T>C	p.Leu58=	p.L58=	ENST00000535366		58	Tta/Cta	0	not done		synonymous	
EXOSC6		inserm.fr	GRCh37	16	70285793	70285793	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1207T																					ENST00000435634.1:c.11A>G	p.Asp4Gly	p.D4G	ENST00000435634	NM_058219.2	4	gAt/gGt	0	not done		probablydamaging	
TET1		inserm.fr	GRCh37	10	70332707	70332707	+	synonymous_variant	Silent	SNP	T	C	C			CHC469T																					ENST00000373644.4:c.612T>C	p.Pro204=	p.P204=	ENST00000373644	NM_030625.2	204	ccT/ccC	0	validated		synonymous	
MED12		inserm.fr	GRCh37	X	70343473	70343473	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1738T																					ENST00000374080.3:c.1647G>C	p.Glu549Asp	p.E549D	ENST00000374080		549	gaG/gaC	0	not done		probablydamaging	
DDX19B		inserm.fr	GRCh37	16	70349889	70349889	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1600T																					ENST00000288071.6:c.178T>C	p.Ser60Pro	p.S60P	ENST00000288071	NM_007242.5	60	Tcc/Ccc	0	not done		probablydamaging	
LRRC7		inserm.fr	GRCh37	1	70503971	70503971	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2127T																					ENST00000035383.5:c.2350A>C	p.Thr784Pro	p.T784P	ENST00000035383	NM_020794.2	784	Acc/Ccc	0	not done		benign	
LRRC7		inserm.fr	GRCh37	1	70504906	70504906	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1741T																					ENST00000035383.5:c.3285G>C	p.Glu1095Asp	p.E1095D	ENST00000035383	NM_020794.2	1095	gaG/gaC	0	not done		probablydamaging	
COL19A1		inserm.fr	GRCh37	6	70610161	70610161	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC909T																					ENST00000322773.4:c.197G>C	p.Arg66Thr	p.R66T	ENST00000322773	NM_001858.4	66	aGa/aCa	0	validated		possiblydamaging	
TAF1		inserm.fr	GRCh37	X	70612566	70612566	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	C	C			BCB231T																					ENST00000276072.3:c.2989A>C	p.Lys997Gln	p.K997Q	ENST00000276072		997	Aag/Cag	0	validated		possiblydamaging	
NLRP14		inserm.fr	GRCh37	11	7064933	7064933	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM337T																					ENST00000299481.4:c.1676A>C	p.Lys559Thr	p.K559T	ENST00000299481	NM_176822.3	559	aAg/aCg	0	validated		benign	
MTSS1L		inserm.fr	GRCh37	16	70698552	70698552	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC614T									Valid												ENST00000338779.6:c.1420A>G	p.Ser474Gly	p.S474G	ENST00000338779	NM_138383.2	474	Agc/Ggc	0	validated		possiblydamaging	
NLRP14		inserm.fr	GRCh37	11	7070981	7070981	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1763T																					ENST00000299481.4:c.2203G>C	p.Asp735His	p.D735H	ENST00000299481	NM_176822.3	735	Gac/Cac	0	not done		probablydamaging	
KIAA1279		inserm.fr	GRCh37	10	70760273	70760273	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1601T																					ENST00000361983.4:c.520A>C	p.Lys174Gln	p.K174Q	ENST00000361983	NM_015634.3	174	Aaa/Caa	0	not done		probablydamaging	
OGT		inserm.fr	GRCh37	X	70767822	70767822	+	synonymous_variant	Silent	SNP	T	C	C			CHC121T																					ENST00000373719.3:c.597T>C	p.Cys199=	p.C199=	ENST00000373719	NM_181673.2	199	tgT/tgC	0	validated		synonymous	
KCNMB4		inserm.fr	GRCh37	12	70794044	70794044	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2216T																					ENST00000258111.4:c.392T>C	p.Met131Thr	p.M131T	ENST00000258111	NM_014505.5	131	aTg/aCg	0	not done		benign	
SHANK2		inserm.fr	GRCh37	11	70803581	70803581	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1597T																					ENST00000338508.4:c.799C>G	p.Pro267Ala	p.P267A	ENST00000338508		267	Ccg/Gcg	0	not done		possiblydamaging	
ACRC		inserm.fr	GRCh37	X	70824010	70824010	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC609T																					ENST00000373695.1:c.883T>C	p.Ser295Pro	p.S295P	ENST00000373695		295	Tcc/Ccc	0	validated		benign	
LPCAT3		inserm.fr	GRCh37	12	7090338	7090338	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1743T																					ENST00000261407.4:c.505T>G	p.Leu169Val	p.L169V	ENST00000261407	NM_005768.5	169	Ttg/Gtg	0	not done		benign	
UACA		inserm.fr	GRCh37	15	70959319	70959319	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1915T									Valid												ENST00000322954.6:c.3704A>G	p.Asp1235Gly	p.D1235G	ENST00000322954	NM_018003.2	1235	gAt/gGt	0	validated		possiblydamaging	
SUPV3L1		inserm.fr	GRCh37	10	70960145	70960145	+	synonymous_variant	Silent	SNP	A	C	C			CHC1148T																					ENST00000359655.4:c.1408A>C	p.Arg470=	p.R470=	ENST00000359655	NM_003171.3	470	Aga/Cga	0	not done		synonymous	
SUPV3L1		inserm.fr	GRCh37	10	70968643	70968643	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC794T																					ENST00000359655.4:c.2213T>C	p.Val738Ala	p.V738A	ENST00000359655	NM_003171.3	738	gTg/gCg	0	validated		possiblydamaging	
PGM5		inserm.fr	GRCh37	9	71002385	71002385	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1052T									Valid												ENST00000396396.1:c.578T>C	p.Ile193Thr	p.I193T	ENST00000396396	NM_021965.3	193	aTa/aCa	0	validated		probablydamaging	
COL9A1		inserm.fr	GRCh37	6	71004130	71004130	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1211T																					ENST00000357250.6:c.436A>G	p.Ile146Val	p.I146V	ENST00000357250	NM_001851.4	146	Att/Gtt	0	not done		benign	
NCOA2		inserm.fr	GRCh37	8	71037020	71037020	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1061T																					ENST00000452400.2:c.3997A>G	p.Thr1333Ala	p.T1333A	ENST00000452400	NM_006540.2	1333	Aca/Gca	0	validated		benign	
CLEC4F		inserm.fr	GRCh37	2	71044082	71044082	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1182T																					ENST00000272367.2:c.431A>G	p.Asn144Ser	p.N144S	ENST00000272367	NM_001258027.1	144	aAc/aGc	0	not done		possiblydamaging	
PTPRR		inserm.fr	GRCh37	12	71077951	71077951	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2110Tbis																					ENST00000283228.2:c.1453A>G	p.Ser485Gly	p.S485G	ENST00000283228	NM_002849.3	485	Agc/Ggc	0	not done		possiblydamaging	
PTPRR		inserm.fr	GRCh37	12	71095092	71095092	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1148T																					ENST00000283228.2:c.1019A>G	p.Asn340Ser	p.N340S	ENST00000283228	NM_002849.3	340	aAc/aGc	0	not done		probablydamaging	
FAM135A		inserm.fr	GRCh37	6	71138086	71138086	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM783T																					ENST00000418814.2:c.41T>C	p.Leu14Pro	p.L14P	ENST00000418814	NM_001162529.1	14	cTa/cCa	0	validated		probablydamaging	
WDR90		inserm.fr	GRCh37	16	711737	711737	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2052T																					ENST00000293879.4:c.3814A>C	p.Thr1272Pro	p.T1272P	ENST00000293879		1272	Act/Cct	0	not done		possiblydamaging	
TACR2		inserm.fr	GRCh37	10	71175754	71175754	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM543T																					ENST00000373306.4:c.326A>G	p.Gln109Arg	p.Q109R	ENST00000373306	NM_001057.2	109	cAg/cGg	0	validated		probablydamaging	
MAP3K9		inserm.fr	GRCh37	14	71197108	71197108	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1531T																					ENST00000555993.2:c.3346T>G	p.Phe1116Val	p.F1116V	ENST00000555993	NM_033141.2	1116	Ttc/Gtc	0	not done		probablydamaging	
KRTAP5-10		inserm.fr	GRCh37	11	71276681	71276681	+	synonymous_variant	Silent	SNP	T	C	C			CHC1714T																					ENST00000398531.1:c.48T>C	p.Gly16=	p.G16=	ENST00000398531	NM_001012710.1	16	ggT/ggC	0	not done		synonymous	
KRTAP5-10		inserm.fr	GRCh37	11	71276681	71276681	+	synonymous_variant	Silent	SNP	T	C	C			CHC1738T																					ENST00000398531.1:c.48T>C	p.Gly16=	p.G16=	ENST00000398531	NM_001012710.1	16	ggT/ggC	0	not done		synonymous	
SDK2		inserm.fr	GRCh37	17	71431603	71431603	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2034T																					ENST00000392650.3:c.1181A>G	p.Tyr394Cys	p.Y394C	ENST00000392650	NM_001144952.1	394	tAc/tGc	0	not done		possiblydamaging	
MAP1B		inserm.fr	GRCh37	5	71491350	71491350	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCB111T									Valid												ENST00000296755.7:c.2168A>C	p.Lys723Thr	p.K723T	ENST00000296755	NM_005909.3	723	aAg/aCg	0	validated		probablydamaging	
MAP1B		inserm.fr	GRCh37	5	71491640	71491640	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC794T																					ENST00000296755.7:c.2458G>C	p.Ala820Pro	p.A820P	ENST00000296755	NM_005909.3	820	Gcc/Ccc	0	validated		benign	
MAP1B		inserm.fr	GRCh37	5	71494895	71494895	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1192T																					ENST00000296755.7:c.5713T>C	p.Tyr1905His	p.Y1905H	ENST00000296755	NM_005909.3	1905	Tac/Cac	0	not done		possiblydamaging	
ZRANB2		inserm.fr	GRCh37	1	71544241	71544241	+	synonymous_variant	Silent	SNP	T	C	C			CHC429T																					ENST00000370920.3:c.117A>G	p.Thr39=	p.T39=	ENST00000370920	NM_203350.2	39	acA/acG	0	validated		synonymous	
XKR9		inserm.fr	GRCh37	8	71593349	71593349	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC197T									Valid												ENST00000408926.3:c.56T>C	p.Val19Ala	p.V19A	ENST00000408926	NM_001011720.1	19	gTa/gCa	0	validated		possiblydamaging	
ZNF638		inserm.fr	GRCh37	2	71597096	71597096	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1568T																					ENST00000409544.1:c.2226A>C	p.Lys742Asn	p.K742N	ENST00000409544	NM_001252612.1	742	aaA/aaC	0	not done		probablydamaging	
COL13A1		inserm.fr	GRCh37	10	71695135	71695135	+	synonymous_variant	Silent	SNP	T	C	C			CHC1211T																					ENST00000398978.3:c.1725T>C	p.Pro575=	p.P575=	ENST00000398978	NM_001130103.1	575	ccT/ccC	0	not done		synonymous	
PHLPP2		inserm.fr	GRCh37	16	71715725	71715725	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1741T																					ENST00000568954.1:c.819T>G	p.Asp273Glu	p.D273E	ENST00000568954		273	gaT/gaG	0	not done		probablydamaging	
NUMA1		inserm.fr	GRCh37	11	71717169	71717169	+	synonymous_variant	Silent	SNP	T	C	C			CHC1035T																					ENST00000393695.3:c.5604A>G	p.Ser1868=	p.S1868=	ENST00000393695	NM_006185.2	1868	tcA/tcG	0	validated		synonymous	
C1S		inserm.fr	GRCh37	12	7173179	7173179	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC303T																					ENST00000406697.1:c.776T>C	p.Leu259Pro	p.L259P	ENST00000406697		259	cTa/cCa	0	validated		benign	
ZNF366		inserm.fr	GRCh37	5	71757019	71757019	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC961T																					ENST00000318442.5:c.305A>G	p.Glu102Gly	p.E102G	ENST00000318442	NM_152625.1	102	gAg/gGg	0	validated		benign	
AIFM2		inserm.fr	GRCh37	10	71874022	71874022	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1183T																					ENST00000307864.1:c.1034A>G	p.Tyr345Cys	p.Y345C	ENST00000307864	NM_032797.5	345	tAt/tGt	0	not done		probablydamaging	
C1R		inserm.fr	GRCh37	12	7187840	7187840	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC902T																					ENST00000542285.1:c.1958A>G	p.Asp653Gly	p.D653G	ENST00000542285		653	gAc/gGc	0	not done		benign	
TYSND1		inserm.fr	GRCh37	10	71899684	71899684	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1053T									Valid												ENST00000287078.6:c.1697T>G	p.Leu566Arg	p.L566R	ENST00000287078	NM_173555.3	566	cTc/cGc	0	validated		probablydamaging	
IST1		inserm.fr	GRCh37	16	71950993	71950993	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2112T																					ENST00000535424.1:c.352T>C	p.Trp118Arg	p.W118R	ENST00000535424		118	Tgg/Cgg	0	not done		probablydamaging	
ZFC3H1		inserm.fr	GRCh37	12	72051059	72051059	+	synonymous_variant	Silent	SNP	T	C	C			CHC902T																					ENST00000378743.3:c.621A>G	p.Pro207=	p.P207=	ENST00000378743	NM_144982.4	207	ccA/ccG	0	not done		synonymous	
TMEM19		inserm.fr	GRCh37	12	72083424	72083424	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM339T																					ENST00000266673.5:c.184G>C	p.Val62Leu	p.V62L	ENST00000266673	NM_018279.3	62	Gtt/Ctt	0	validated		benign	
SIPA1L1		inserm.fr	GRCh37	14	72085523	72085523	+	synonymous_variant	Silent	SNP	G	C	C			BCB109T																					ENST00000555818.1:c.1548G>C	p.Val516=	p.V516=	ENST00000555818	NM_015556.1	516	gtG/gtC	0	validated		synonymous	
HP		inserm.fr	GRCh37	16	72090498	72090498	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1715T																					ENST00000355906.5:c.158A>C	p.Lys53Thr	p.K53T	ENST00000355906	NM_005143.3	53	aAg/aCg	0	validated		benign	
HP		inserm.fr	GRCh37	16	72094122	72094122	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM325T																					ENST00000355906.5:c.554T>C	p.Leu185Pro	p.L185P	ENST00000355906	NM_005143.3	185	cTc/cCc	0	validated		probablydamaging	
EIF5A		inserm.fr	GRCh37	17	7214690	7214690	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1626T																					ENST00000336452.7:c.382T>C	p.Tyr128His	p.Y128H	ENST00000336452	NM_001143760.1	128	Tac/Cac	0	not done		probablydamaging	
CNDP2		inserm.fr	GRCh37	18	72168585	72168585	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC304T									Valid												ENST00000324262.4:c.82A>C	p.Ile28Leu	p.I28L	ENST00000324262	NM_018235.2	28	Atc/Ctc	0	validated		possiblydamaging	
TNPO1		inserm.fr	GRCh37	5	72189037	72189037	+	synonymous_variant	Silent	SNP	T	C	C			CHC1743T																					ENST00000337273.5:c.1860T>C	p.Cys620=	p.C620=	ENST00000337273	NM_002270.3	620	tgT/tgC	0	not done		synonymous	
LRRC30		inserm.fr	GRCh37	18	7231173	7231173	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2115T																					ENST00000383467.2:c.37A>C	p.Lys13Gln	p.K13Q	ENST00000383467	NM_001105581.1	13	Aag/Cag	0	not done		benign	
MYO9A		inserm.fr	GRCh37	15	72338353	72338353	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC451T																					ENST00000356056.5:c.552A>G	p.Ile184Met	p.I184M	ENST00000356056	NM_006901.3	184	atA/atG	0	validated		probablydamaging	
PTAR1		inserm.fr	GRCh37	9	72365741	72365741	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1600T																					ENST00000340434.4:c.212A>G	p.Lys71Arg	p.K71R	ENST00000340434	NM_001099666.1	71	aAg/aGg	0	not done		probablydamaging	
NEGR1		inserm.fr	GRCh37	1	72400886	72400886	+	synonymous_variant	Silent	SNP	T	C	C			CHC805T																					ENST00000357731.5:c.285A>G	p.Thr95=	p.T95=	ENST00000357731	NM_173808.2	95	acA/acG	0	not done		synonymous	
ARAP1		inserm.fr	GRCh37	11	72408377	72408377	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1591T																					ENST00000393609.3:c.2944A>G	p.Thr982Ala	p.T982A	ENST00000393609	NM_001040118.2	982	Acg/Gcg	0	not done		probablydamaging	
TMEM174		inserm.fr	GRCh37	5	72469485	72469485	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1603T																					ENST00000296776.5:c.415T>C	p.Tyr139His	p.Y139H	ENST00000296776	NM_153217.2	139	Tac/Cac	0	not done		probablydamaging	
CD300A		inserm.fr	GRCh37	17	72480246	72480246	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2099T																					ENST00000360141.3:c.881G>C	p.Ser294Thr	p.S294T	ENST00000360141	NM_007261.3	294	aGt/aCt	0	not done		possiblydamaging	
ADAMTS14		inserm.fr	GRCh37	10	72517964	72517964	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC051T																					ENST00000373208.1:c.3110T>C	p.Val1037Ala	p.V1037A	ENST00000373208	NM_139155.2	1037	gTc/gCc	0	validated		benign	
PARP6		inserm.fr	GRCh37	15	72556958	72556958	+	synonymous_variant	Silent	SNP	T	C	C			CHC314T																					ENST00000569795.1:c.333A>G	p.Pro111=	p.P111=	ENST00000569795		111	ccA/ccG	0	validated		synonymous	
RHBDL1		inserm.fr	GRCh37	16	726120	726120	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM339T																					ENST00000219551.2:c.19G>C	p.Gly7Arg	p.G7R	ENST00000219551		7	Ggg/Cgg	0	validated		benign	
SFMBT2		inserm.fr	GRCh37	10	7262379	7262379	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1600T																					ENST00000361972.4:c.1324C>G	p.Leu442Val	p.L442V	ENST00000361972	NM_001018039.1	442	Ctg/Gtg	0	not done		possiblydamaging	
SGPL1		inserm.fr	GRCh37	10	72633273	72633273	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2098T																					ENST00000373202.3:c.1225A>C	p.Met409Leu	p.M409L	ENST00000373202	NM_003901.3	409	Atg/Ctg	0	not done		benign	
MSC		inserm.fr	GRCh37	8	72756290	72756290	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2048T																					ENST00000325509.4:c.124A>G	p.Ser42Gly	p.S42G	ENST00000325509	NM_005098.3	42	Agt/Ggt	0	not done		probablydamaging	
ZFHX3		inserm.fr	GRCh37	16	72822484	72822484	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC912T																					ENST00000268489.5:c.9691C>G	p.Gln3231Glu	p.Q3231E	ENST00000268489	NM_006885.3	3231	Caa/Gaa	0	validated		benign	
ZFHX3		inserm.fr	GRCh37	16	72830016	72830016	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC805T																					ENST00000268489.5:c.6565A>G	p.Ile2189Val	p.I2189V	ENST00000268489	NM_006885.3	2189	Atc/Gtc	0	not done		possiblydamaging	
FDXR		inserm.fr	GRCh37	17	72860076	72860076	+	synonymous_variant	Silent	SNP	G	C	C			CHC2351T																					ENST00000442102.2:c.1245C>G	p.Pro415=	p.P415=	ENST00000442102	NM_001258012.1	415	ccC/ccG	0	not done		synonymous	
EXOC6B		inserm.fr	GRCh37	2	72945306	72945306	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC326T																					ENST00000272427.6:c.595A>G	p.Met199Val	p.M199V	ENST00000272427	NM_015189.1	199	Atg/Gtg	0	validated		probablydamaging	
OTOP3		inserm.fr	GRCh37	17	72945468	72945468	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC889T																					ENST00000328801.4:c.1748T>C	p.Met583Thr	p.M583T	ENST00000328801	NM_001272005.1	583	aTg/aCg	0	not done		probablydamaging	
TRPA1		inserm.fr	GRCh37	8	72964990	72964990	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1591T																					ENST00000262209.4:c.1655T>G	p.Leu552Arg	p.L552R	ENST00000262209	NM_007332.2	552	cTt/cGt	0	not done		probablydamaging	
ZFHX3		inserm.fr	GRCh37	16	72992468	72992468	+	stop_gained	Nonsense_Mutation	SNP	G	C	C			CHC320T									Valid												ENST00000268489.5:c.1577C>G	p.Ser526Ter	p.S526*	ENST00000268489	NM_006885.3	526	tCa/tGa	0	validated		damaging	
NPFFR2		inserm.fr	GRCh37	4	73003778	73003778	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1747T																					ENST00000308744.6:c.656T>C	p.Met219Thr	p.M219T	ENST00000308744	NM_004885.2	219	aTg/aCg	0	not done		possiblydamaging	
MLXIPL		inserm.fr	GRCh37	7	73010184	73010184	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1079T																					ENST00000313375.3:c.2174A>G	p.Asn725Ser	p.N725S	ENST00000313375	NM_032953.2	725	aAt/aGt	0	not done		probablydamaging	
C18orf62		inserm.fr	GRCh37	18	73130754	73130754	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB109T																					ENST00000579022.1:c.247A>G	p.Ser83Gly	p.S83G	ENST00000579022	NM_001037331.2	83	Agc/Ggc	0	validated		benign	
C18orf62		inserm.fr	GRCh37	18	73130853	73130853	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM711T																					ENST00000579022.1:c.148A>G	p.Ile50Val	p.I50V	ENST00000579022	NM_001037331.2	50	Att/Gtt	0	validated		benign	
ADAMTS3		inserm.fr	GRCh37	4	73186464	73186464	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC892T																					ENST00000286657.4:c.1069A>G	p.Thr357Ala	p.T357A	ENST00000286657	NM_014243.2	357	Acc/Gcc	0	not done		probablydamaging	
GGA3		inserm.fr	GRCh37	17	73235516	73235516	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1035T																					ENST00000245541.6:c.1720C>G	p.Pro574Ala	p.P574A	ENST00000245541	NM_138619.2	574	Ccg/Gcg	0	validated		benign	
GGA3		inserm.fr	GRCh37	17	73257647	73257647	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000245541.6:c.22A>G	p.Ser8Gly	p.S8G	ENST00000245541	NM_138619.2	8	Agc/Ggc	0	not done		possiblydamaging	
SFXN5		inserm.fr	GRCh37	2	73268055	73268055	+	synonymous_variant	Silent	SNP	A	C	C			BCB111T																					ENST00000272433.2:c.177T>G	p.Arg59=	p.R59=	ENST00000272433	NM_144579.2	59	cgT/cgG	0	validated		synonymous	
DCAF4		inserm.fr	GRCh37	14	73404698	73404698	+	synonymous_variant	Silent	SNP	T	C	C			CHC314T																					ENST00000358377.2:c.12T>C	p.Ser4=	p.S4=	ENST00000358377	NM_001163509.1	4	agT/agC	0	validated		synonymous	
ZFYVE1		inserm.fr	GRCh37	14	73444888	73444888	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1205T																					ENST00000556143.1:c.1474A>G	p.Thr492Ala	p.T492A	ENST00000556143	NM_021260.2	492	Act/Gct	0	not done		benign	
ZFYVE1		inserm.fr	GRCh37	14	73444937	73444937	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC805T																					ENST00000556143.1:c.1425C>G	p.Cys475Trp	p.C475W	ENST00000556143	NM_021260.2	475	tgC/tgG	0	not done		probablydamaging	
ZFYVE1		inserm.fr	GRCh37	14	73448507	73448507	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2208T																					ENST00000556143.1:c.1300C>G	p.Leu434Val	p.L434V	ENST00000556143	NM_021260.2	434	Ctc/Gtc	0	not done		probablydamaging	
CCT7		inserm.fr	GRCh37	2	73471841	73471841	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC614T																					ENST00000258091.5:c.616G>C	p.Glu206Gln	p.E206Q	ENST00000258091	NM_006429.3	206	Gag/Cag	0	validated		benign	
RECQL5		inserm.fr	GRCh37	17	73625825	73625825	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2034T																					ENST00000317905.5:c.1910A>G	p.Asn637Ser	p.N637S	ENST00000317905	NM_004259.6	637	aAt/aGt	0	not done		benign	
ALMS1		inserm.fr	GRCh37	2	73680309	73680309	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC451T																					ENST00000264448.6:c.6652A>C	p.Asn2218His	p.N2218H	ENST00000264448	NM_015120.4	2218	Aat/Cat	0	validated		possiblydamaging	
WDR24		inserm.fr	GRCh37	16	737603	737603	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1052T																					ENST00000293883.4:c.618C>G	p.His206Gln	p.H206Q	ENST00000293883	NM_032259.2	206	caC/caG	0	validated		probablydamaging	
H3F3B		inserm.fr	GRCh37	17	73774738	73774738	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1568T																					ENST00000254810.4:c.349A>G	p.Arg117Gly	p.R117G	ENST00000254810	NM_005324.3	117	Aga/Gga	0	not done		possiblydamaging	
UNK		inserm.fr	GRCh37	17	73805853	73805853	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM397T									Valid												ENST00000589666.1:c.117A>C	p.Glu39Asp	p.E39D	ENST00000589666	NM_001080419.2	39	gaA/gaC	0	validated		probablydamaging	
C2CD3		inserm.fr	GRCh37	11	73817496	73817496	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC879T																					ENST00000313663.7:c.2005A>G	p.Ile669Val	p.I669V	ENST00000313663	NM_015531.4	669	Att/Gtt	0	not done		benign	
KCNB2		inserm.fr	GRCh37	8	73848194	73848194	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1148T																					ENST00000523207.1:c.604T>C	p.Phe202Leu	p.F202L	ENST00000523207	NM_004770.2	202	Ttc/Ctc	0	not done		possiblydamaging	
KCNB2		inserm.fr	GRCh37	8	73849905	73849905	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2052T																					ENST00000523207.1:c.2315A>C	p.Glu772Ala	p.E772A	ENST00000523207	NM_004770.2	772	gAg/gCg	0	not done		benign	
RIOK1		inserm.fr	GRCh37	6	7393464	7393464	+	synonymous_variant	Silent	SNP	T	C	C			CHC302T																					ENST00000379834.2:c.204T>C	p.Asp68=	p.D68=	ENST00000379834	NM_031480.2	68	gaT/gaC	0	validated		synonymous	
C14orf169		inserm.fr	GRCh37	14	73957983	73957983	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	G	C	C			CHC1191T																					ENST00000304061.5:n.338G>C		p.X113_splice	ENST00000304061				0	not done		synonymous	
ACOX1		inserm.fr	GRCh37	17	73974744	73974744	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1750T																					ENST00000293217.5:c.140A>G	p.Gln47Arg	p.Q47R	ENST00000293217	NM_004035.6	47	cAg/cGg	0	not done		benign	
COL28A1		inserm.fr	GRCh37	7	7398304	7398304	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC197T									Valid												ENST00000399429.3:c.3338A>G	p.Asn1113Ser	p.N1113S	ENST00000399429	NM_001037763.2	1113	aAc/aGc	0	validated		benign	
CD276		inserm.fr	GRCh37	15	74000726	74000726	+	synonymous_variant	Silent	SNP	G	C	C			CHC1745T																					ENST00000318443.5:c.1416G>C	p.Gly472=	p.G472=	ENST00000318443	NM_001024736.1	472	ggG/ggC	0	not done		synonymous	
HEXB		inserm.fr	GRCh37	5	74014164	74014164	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2358T																					ENST00000261416.7:c.1218G>C	p.Gln406His	p.Q406H	ENST00000261416	NM_000521.3	406	caG/caC	0	validated		probablydamaging	
C2orf78		inserm.fr	GRCh37	2	74042433	74042433	+	synonymous_variant	Silent	SNP	T	C	C			BCM695T																					ENST00000409561.1:c.1083T>C	p.Asn361=	p.N361=	ENST00000409561	NM_001080474.1	361	aaT/aaC	0	validated		synonymous	
PGM2L1		inserm.fr	GRCh37	11	74053558	74053558	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2048T																					ENST00000298198.4:c.1580A>G	p.His527Arg	p.H527R	ENST00000298198	NM_173582.3	527	cAt/cGt	0	not done		benign	
DDX43		inserm.fr	GRCh37	6	74104759	74104759	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC327T																					ENST00000370336.4:c.131G>C	p.Ser44Thr	p.S44T	ENST00000370336	NM_018665.2	44	aGt/aCt	0	validated		benign	
DNAL1		inserm.fr	GRCh37	14	74125600	74125600	+	synonymous_variant	Silent	SNP	T	C	C			BCM739T																					ENST00000553645.2:c.93T>C	p.Tyr31=	p.Y31=	ENST00000553645	NM_031427.3	31	taT/taC	0	validated		synonymous	
MB21D1		inserm.fr	GRCh37	6	74150113	74150113	+	synonymous_variant	Silent	SNP	A	C	C			CHC1756T																					ENST00000370315.3:c.933T>G	p.Leu311=	p.L311=	ENST00000370315	NM_138441.2	311	ctT/ctG	0	not done		synonymous	
KCNE3		inserm.fr	GRCh37	11	74168344	74168344	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1545T																					ENST00000310128.4:c.265A>G	p.Ser89Gly	p.S89G	ENST00000310128	NM_005472.4	89	Agt/Ggt	0	not done		probablydamaging	
ELMSAN1		inserm.fr	GRCh37	14	74206685	74206685	+	synonymous_variant	Silent	SNP	A	C	C			CHC1545T																					ENST00000286523.5:c.27T>G	p.Ala9=	p.A9=	ENST00000286523	NM_194278.3	9	gcT/gcG	0	not done		synonymous	
EEF1A1		inserm.fr	GRCh37	6	74228947	74228947	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1754T																					ENST00000316292.9:c.329A>G	p.Asp110Gly	p.D110G	ENST00000316292	NM_001402.5	110	gAc/gGc	0	not done		possiblydamaging	
ALB		inserm.fr	GRCh37	4	74272446	74272446	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM723T																					ENST00000295897.4:c.238G>C	p.Asp80His	p.D80H	ENST00000295897	NM_000477.5	80	Gat/Cat	0	validated		possiblydamaging	
ALB		inserm.fr	GRCh37	4	74275079	74275079	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1742T																					ENST00000295897.4:c.490T>C	p.Tyr164His	p.Y164H	ENST00000295897	NM_000477.5	164	Tat/Cat	0	not done		probablydamaging	
STOML1		inserm.fr	GRCh37	15	74276437	74276437	+	synonymous_variant	Silent	SNP	G	C	C			CHC437T																					ENST00000316900.5:c.1038C>G	p.Gly346=	p.G346=	ENST00000316900	NM_001256675.1	346	ggC/ggG	0	not done		synonymous	
ALB		inserm.fr	GRCh37	4	74279322	74279322	+	synonymous_variant	Silent	SNP	T	C	C			CHC304T																					ENST00000295897.4:c.1029T>C	p.Tyr343=	p.Y343=	ENST00000295897	NM_000477.5	343	taT/taC	0	validated		synonymous	
ALB		inserm.fr	GRCh37	4	74283387	74283387	+	splice_donor_variant	Splice_Site	SNP	G	C	C			CHC879T																					ENST00000295897.4:c.1428+1G>C		p.X476_splice	ENST00000295897	NM_000477.5			0	not done		possiblydamaging	
ALB		inserm.fr	GRCh37	4	74283986	74283986	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1600T																					ENST00000295897.4:c.1610T>C	p.Ile537Thr	p.I537T	ENST00000295897	NM_000477.5	537	aTa/aCa	0	not done		benign	
ALB		inserm.fr	GRCh37	4	74285303	74285303	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC437T																					ENST00000295897.4:c.1732T>C	p.Phe578Leu	p.F578L	ENST00000295897	NM_000477.5	578	Ttt/Ctt	0	not done		benign	
QRICH2		inserm.fr	GRCh37	17	74287413	74287413	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1739T																					ENST00000262765.5:c.2897A>G	p.Asn966Ser	p.N966S	ENST00000262765	NM_032134.1	966	aAt/aGt	0	not done		benign	
ABCB7		inserm.fr	GRCh37	X	74288947	74288947	+	synonymous_variant	Silent	SNP	T	C	C			CHC1040T																					ENST00000253577.3:c.1557A>G	p.Leu519=	p.L519=	ENST00000253577	NM_001271696.1	519	ttA/ttG	0	not done		synonymous	
TMEM2		inserm.fr	GRCh37	9	74300188	74300188	+	synonymous_variant	Silent	SNP	T	C	C			CHC1191T																					ENST00000377044.4:c.4077A>G	p.Glu1359=	p.E1359=	ENST00000377044	NM_013390.2	1359	gaA/gaG	0	not done		synonymous	
PRPSAP1		inserm.fr	GRCh37	17	74309946	74309946	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC703T																					ENST00000446526.3:c.808A>G	p.Ile270Val	p.I270V	ENST00000446526	NM_002766.2	270	Ata/Gta	0	validated		possiblydamaging	
SLC17A5		inserm.fr	GRCh37	6	74354253	74354253	+	synonymous_variant	Silent	SNP	T	C	C			CHC2098T																					ENST00000355773.5:c.168A>G	p.Leu56=	p.L56=	ENST00000355773	NM_012434.4	56	ttA/ttG	0	not done		synonymous	
TMEM2		inserm.fr	GRCh37	9	74360011	74360011	+	synonymous_variant	Silent	SNP	A	C	C			CHC304T																					ENST00000377044.4:c.957T>G	p.Ala319=	p.A319=	ENST00000377044	NM_013390.2	319	gcT/gcG	0	validated		synonymous	
MOB1A		inserm.fr	GRCh37	2	74383771	74383771	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC909T																					ENST00000396049.4:c.575A>G	p.Glu192Gly	p.E192G	ENST00000396049	NM_018221.3	192	gAg/gGg	0	not done		probablydamaging	
RASSF6		inserm.fr	GRCh37	4	74442356	74442356	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1148T																					ENST00000342081.3:c.910A>G	p.Lys304Glu	p.K304E	ENST00000342081	NM_201431.2	304	Aaa/Gaa	0	not done		benign	
ANKRD31		inserm.fr	GRCh37	5	74442683	74442683	+	synonymous_variant	Silent	SNP	A	C	C			BCB231T																					ENST00000506364.2:c.2553T>G	p.Val851=	p.V851=	ENST00000506364		851	gtT/gtG	0	validated		synonymous	
UBE2O		inserm.fr	GRCh37	17	74448975	74448975	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1569T																					ENST00000319380.7:c.249C>G	p.His83Gln	p.H83Q	ENST00000319380	NM_022066.3	83	caC/caG	0	not done		possiblydamaging	
WBSCR16		inserm.fr	GRCh37	7	74489392	74489392	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1597T																					ENST00000329959.4:c.182T>G	p.Val61Gly	p.V61G	ENST00000329959	NM_030798.4	61	gTc/gGc	0	not done		probablydamaging	
FAM108B1		inserm.fr	GRCh37	9	74489963	74489963	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM337T																					ENST00000377041.2:c.34C>G	p.Leu12Val	p.L12V	ENST00000377041	NM_016014.2	12	Ctc/Gtc	0	validated		possiblydamaging	
LRRIQ3		inserm.fr	GRCh37	1	74492513	74492513	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC301T																					ENST00000354431.4:c.1859A>G	p.Asn620Ser	p.N620S	ENST00000354431	NM_001105659.1	620	aAt/aGt	0	validated		benign	
GLG1		inserm.fr	GRCh37	16	74501670	74501670	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC051T																					ENST00000205061.5:c.2513A>G	p.Gln838Arg	p.Q838R	ENST00000205061	NM_012201.5	838	cAa/cGa	0	validated		probablydamaging	
CD109		inserm.fr	GRCh37	6	74519725	74519725	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC891T																					ENST00000287097.5:c.3374T>C	p.Val1125Ala	p.V1125A	ENST00000287097		1125	gTg/gCg	0	not done		benign	
LRRIQ3		inserm.fr	GRCh37	1	74575167	74575167	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2111T																					ENST00000354431.4:c.778A>G	p.Ile260Val	p.I260V	ENST00000354431	NM_001105659.1	260	Ata/Gta	0	not done		benign	
HMGCR		inserm.fr	GRCh37	5	74656123	74656123	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC909T																					ENST00000287936.4:c.2623A>C	p.Asn875His	p.N875H	ENST00000287936	NM_000859.2	875	Aat/Cat	0	not done		probablydamaging	
OIT3		inserm.fr	GRCh37	10	74690322	74690322	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC205T									Valid												ENST00000334011.5:c.1394A>C	p.Gln465Pro	p.Q465P	ENST00000334011	NM_152635.1	465	cAg/cCg	0	validated		probablydamaging	
MOGS		inserm.fr	GRCh37	2	74692030	74692030	+	synonymous_variant	Silent	SNP	G	C	C			CHC1010T																					ENST00000233616.4:c.345C>G	p.Leu115=	p.L115=	ENST00000233616	NM_006302.2	115	ctC/ctG	0	not done		synonymous	
MBP		inserm.fr	GRCh37	18	74701987	74701987	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC432T																					ENST00000355994.2:c.606C>G	p.His202Gln	p.H202Q	ENST00000355994	NM_001025101.1	202	caC/caG	0	not done		probablydamaging	
JMJD6		inserm.fr	GRCh37	17	74717979	74717979	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC097T																					ENST00000445478.2:c.842C>G	p.Thr281Ser	p.T281S	ENST00000445478	NM_001081461.1	281	aCt/aGt	0	not done		benign	
GALR1		inserm.fr	GRCh37	18	74962918	74962918	+	synonymous_variant	Silent	SNP	G	C	C			CHC1594T																					ENST00000299727.3:c.414G>C	p.Val138=	p.V138=	ENST00000299727	NM_001480.3	138	gtG/gtC	0	not done		synonymous	
FAM149B1		inserm.fr	GRCh37	10	74999111	74999111	+	synonymous_variant	Silent	SNP	T	C	C			CHC1148T																					ENST00000242505.6:c.1644T>C	p.Pro548=	p.P548=	ENST00000242505	NM_173348.1	548	ccT/ccC	0	not done		synonymous	
CYP1A2		inserm.fr	GRCh37	15	75045570	75045570	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM269T																					ENST00000343932.4:c.1212A>C	p.Lys404Asn	p.K404N	ENST00000343932	NM_000761.3	404	aaA/aaC	0	validated		benign	
OLFML1		inserm.fr	GRCh37	11	7507181	7507181	+	synonymous_variant	Silent	SNP	T	C	C			BCM723T																					ENST00000329293.3:c.75T>C	p.Cys25=	p.C25=	ENST00000329293	NM_198474.3	25	tgT/tgC	0	validated		synonymous	
HK2		inserm.fr	GRCh37	2	75106007	75106007	+	synonymous_variant	Silent	SNP	T	C	C			BCB111T																					ENST00000290573.2:c.1224T>C	p.Ser408=	p.S408=	ENST00000290573	NM_000189.4	408	tcT/tcC	0	validated		synonymous	
YLPM1		inserm.fr	GRCh37	14	75265708	75265708	+	synonymous_variant	Silent	SNP	T	C	C			CHC303T																					ENST00000325680.7:c.3708T>C	p.Asp1236=	p.D1236=	ENST00000325680	NM_019589.2	1236	gaT/gaC	0	validated		synonymous	
BCAR1		inserm.fr	GRCh37	16	75268806	75268806	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1044T																					ENST00000418647.3:c.2129A>G	p.Tyr710Cys	p.Y710C	ENST00000418647	NM_001170714.1	710	tAt/tGt	0	not done		probablydamaging	
GDAP1		inserm.fr	GRCh37	8	75275191	75275191	+	synonymous_variant	Silent	SNP	T	C	C			CHC1152T																					ENST00000220822.7:c.597T>C	p.His199=	p.H199=	ENST00000220822	NM_001040875.2	199	caT/caC	0	not done		synonymous	
OLFML1		inserm.fr	GRCh37	11	7531341	7531341	+	synonymous_variant	Silent	SNP	T	C	C			CHC879T																					ENST00000329293.3:c.1131T>C	p.Asp377=	p.D377=	ENST00000329293	NM_198474.3	377	gaT/gaC	0	not done		synonymous	
ARHGEF18		inserm.fr	GRCh37	19	7532323	7532323	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC703T																					ENST00000359920.6:c.2669A>C	p.His890Pro	p.H890P	ENST00000359920	NM_001130955.1	890	cAc/cCc	0	validated		benign	
RPS6KL1		inserm.fr	GRCh37	14	75373288	75373288	+	3_prime_UTR_variant	3'UTR	SNP	G	C	C			CHC1061T									Valid												ENST00000555647.1:c.*429C>G		*143*	ENST00000555647				0	validated		possiblydamaging	
RPS6KL1		inserm.fr	GRCh37	14	75388023	75388023	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1083T																					ENST00000555647.1:c.222C>G	p.Asn74Lys	p.N74K	ENST00000555647		74	aaC/aaG	0	validated		probablydamaging	
EIF2B2		inserm.fr	GRCh37	14	75475762	75475762	+	synonymous_variant	Silent	SNP	T	C	C			CHC1085T																					ENST00000266126.5:c.927T>C	p.His309=	p.H309=	ENST00000266126	NM_014239.3	309	caT/caC	0	validated		synonymous	
FUT11		inserm.fr	GRCh37	10	75532684	75532684	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1741T																					ENST00000372841.3:c.593T>C	p.Met198Thr	p.M198T	ENST00000372841	NM_173540.2	198	aTg/aCg	0	not done		benign	
ALDH1A1		inserm.fr	GRCh37	9	75533731	75533731	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2048T																					ENST00000297785.3:c.755A>G	p.Lys252Arg	p.K252R	ENST00000297785	NM_000689.4	252	aAg/aGg	0	not done		benign	
NDST2		inserm.fr	GRCh37	10	75567642	75567642	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1774T																					ENST00000309979.6:c.505A>G	p.Ile169Val	p.I169V	ENST00000309979		169	Att/Gtt	0	validated		benign	
NDST2		inserm.fr	GRCh37	10	75567752	75567752	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2321T																					ENST00000309979.6:c.395A>G	p.His132Arg	p.H132R	ENST00000309979		132	cAt/cGt	0	validated		benign	
TMEM231		inserm.fr	GRCh37	16	75573915	75573915	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC917T																					ENST00000568377.1:c.1015T>G	p.Leu339Val	p.L339V	ENST00000568377	NM_001077416.2	339	Ttg/Gtg	0	validated		benign	
POR		inserm.fr	GRCh37	7	75608842	75608842	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC912T									Valid												ENST00000461988.1:c.311A>C	p.Asp104Ala	p.D104A	ENST00000461988	NM_000941.2	104	gAc/gCc	0	validated		probablydamaging	
POR		inserm.fr	GRCh37	7	75610883	75610883	+	synonymous_variant	Silent	SNP	G	C	C			CHC798T																					ENST00000461988.1:c.690G>C	p.Val230=	p.V230=	ENST00000461988	NM_000941.2	230	gtG/gtC	0	validated		synonymous	
POR		inserm.fr	GRCh37	7	75612888	75612888	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1545T																					ENST00000461988.1:c.881A>C	p.Lys294Thr	p.K294T	ENST00000461988	NM_000941.2	294	aAg/aCg	0	not done		benign	
TMED10		inserm.fr	GRCh37	14	75643269	75643269	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1744T																					ENST00000303575.4:c.14C>G	p.Ser5Cys	p.S5C	ENST00000303575	NM_006827.5	5	tCt/tGt	0	not done		benign	
TP53		inserm.fr	GRCh37	17	7577109	7577109	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1152T									Valid												ENST00000269305.4:c.829T>G	p.Cys277Gly	p.C277G	ENST00000269305	NM_001126112.2	277	Tgt/Ggt	0	not done		possiblydamaging	
TP53		inserm.fr	GRCh37	17	7577536	7577536	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1616T									Valid												ENST00000269305.4:c.745A>G	p.Arg249Gly	p.R249G	ENST00000269305	NM_001126112.2	249	Agg/Ggg	0	not done		probablydamaging	
TP53		inserm.fr	GRCh37	17	7577545	7577545	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC327T									Valid												ENST00000269305.4:c.736A>G	p.Met246Val	p.M246V	ENST00000269305	NM_001126112.2	246	Atg/Gtg	0	validated		damaging	
TP53		inserm.fr	GRCh37	17	7578190	7578190	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1530T																					ENST00000269305.4:c.659A>G	p.Tyr220Cys	p.Y220C	ENST00000269305	NM_001126112.2	220	tAt/tGt	0	validated		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578206	7578206	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM783T									Valid												ENST00000269305.4:c.643A>G	p.Ser215Gly	p.S215G	ENST00000269305	NM_001126112.2	215	Agt/Ggt	0	validated		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578271	7578271	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM739T																					ENST00000269305.4:c.578A>G	p.His193Arg	p.H193R	ENST00000269305	NM_001126112.2	193	cAt/cGt	0	validated		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578445	7578445	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2052T									Valid												ENST00000269305.4:c.485T>G	p.Ile162Ser	p.I162S	ENST00000269305	NM_001126112.2	162	aTc/aGc	0	not done		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578507	7578507	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1626T									Valid												ENST00000269305.4:c.423C>G	p.Cys141Trp	p.C141W	ENST00000269305	NM_001126112.2	141	tgC/tgG	0	not done		probablydamaging	
ZNF717		inserm.fr	GRCh37	3	75786899	75786899	+	synonymous_variant	Silent	SNP	T	C	C			CHC1717T																					ENST00000422325.1:c.1875A>G	p.Gly625=	p.G625=	ENST00000422325	NM_001128223.1	625	ggA/ggG	0	not done		synonymous	
DSP		inserm.fr	GRCh37	6	7579741	7579741	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC304T																					ENST00000379802.3:c.3318A>C	p.Glu1106Asp	p.E1106D	ENST00000379802	NM_004415.2	1106	gaA/gaC	0	validated		benign	
COL12A1		inserm.fr	GRCh37	6	75887628	75887628	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM397T																					ENST00000322507.8:c.2188A>G	p.Lys730Glu	p.K730E	ENST00000322507	NM_004370.5	730	Aag/Gag	0	validated		benign	
F2RL2		inserm.fr	GRCh37	5	75919054	75919054	+	start_lost	Translation_Start_Site	SNP	A	C	C			BCM371T																					ENST00000296641.4:c.2T>G	p.Met1?	p.M1?	ENST00000296641	NM_004101.3	1	aTg/aGg	0	validated		probablydamaging	
IMP3		inserm.fr	GRCh37	15	75932221	75932221	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2200T																					ENST00000314852.2:c.289C>G	p.Leu97Val	p.L97V	ENST00000314852		97	Ctc/Gtc	0	not done		benign	
CRISPLD1		inserm.fr	GRCh37	8	75937783	75937783	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			BCM723T																					ENST00000262207.4:c.1247T>C	p.Val416Ala	p.V416A	ENST00000262207	NM_031461.5	416	gTa/gCa	0	validated		probablydamaging	
TMEM30A		inserm.fr	GRCh37	6	75969103	75969103	+	synonymous_variant	Silent	SNP	T	C	C			CHC1715T																					ENST00000230461.6:c.645A>G	p.Arg215=	p.R215=	ENST00000230461	NM_018247.3	215	agA/agG	0	not done		synonymous	
CSPG4		inserm.fr	GRCh37	15	75982596	75982596	+	synonymous_variant	Silent	SNP	G	C	C			CHC2112T																					ENST00000308508.5:c.810C>G	p.Thr270=	p.T270=	ENST00000308508	NM_001897.4	270	acC/acG	0	not done		synonymous	
FILIP1		inserm.fr	GRCh37	6	76022409	76022409	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1185T																					ENST00000237172.7:c.3139C>G	p.Pro1047Ala	p.P1047A	ENST00000237172	NM_015687.2	1047	Cca/Gca	0	not done		possiblydamaging	
NRG4		inserm.fr	GRCh37	15	76254200	76254200	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCB157T																					ENST00000394907.3:c.220C>G	p.Leu74Val	p.L74V	ENST00000394907	NM_138573.3	74	Ctt/Gtt	0	validated		probablydamaging	
CD163		inserm.fr	GRCh37	12	7632590	7632590	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC1209T																					ENST00000359156.4:c.3346A>G	p.Asn1116Asp	p.N1116D	ENST00000359156	NM_004244.5	1116	Aat/Gat	0	not done		benign	
RBFOX1		inserm.fr	GRCh37	16	7645577	7645577	+	synonymous_variant	Silent	SNP	T	C	C			CHC1028T																					ENST00000311745.5:c.555T>C	p.Asn185=	p.N185=	ENST00000311745	NM_145891.2	185	aaT/aaC	0	not done		synonymous	
DNAH17		inserm.fr	GRCh37	17	76456079	76456079	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM735T																					ENST00000389840.5:c.9398A>G	p.Asn3133Ser	p.N3133S	ENST00000389840		3133	aAc/aGc	0	validated			
DNAH17		inserm.fr	GRCh37	17	76570863	76570863	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM791T																					ENST00000389840.5:c.277A>G	p.Arg93Gly	p.R93G	ENST00000389840		93	Agg/Ggg	0	validated			
GPATCH2L		inserm.fr	GRCh37	14	76620807	76620807	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1741T																					ENST00000261530.7:c.101A>C	p.Gln34Pro	p.Q34P	ENST00000261530	NM_017926.2	34	cAg/cCg	0	not done		probablydamaging	
OSBPL8		inserm.fr	GRCh37	12	76750434	76750434	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1040T																					ENST00000261183.3:c.2509A>G	p.Ile837Val	p.I837V	ENST00000261183	NM_020841.4	837	Ata/Gta	0	not done		probablydamaging	
CAMSAP3		inserm.fr	GRCh37	19	7675451	7675451	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1182T																					ENST00000446248.2:c.931G>C	p.Gly311Arg	p.G311R	ENST00000446248	NM_001080429.2	311	Ggc/Cgc	0	not done		probablydamaging	
KAT6B		inserm.fr	GRCh37	10	76788876	76788876	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1186T																					ENST00000287239.4:c.4294A>C	p.Ser1432Arg	p.S1432R	ENST00000287239	NM_001256468.1	1432	Agc/Cgc	0	not done		probablydamaging	
CCDC146		inserm.fr	GRCh37	7	76797036	76797036	+	synonymous_variant	Silent	SNP	T	C	C			BCB151T																					ENST00000285871.4:c.51T>C	p.Asp17=	p.D17=	ENST00000285871	NM_020879.2	17	gaT/gaC	0	validated		synonymous	
XAB2		inserm.fr	GRCh37	19	7685260	7685260	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB111T									Valid												ENST00000358368.4:c.2167A>G	p.Met723Val	p.M723V	ENST00000358368	NM_020196.2	723	Atg/Gtg	0	validated		probablydamaging	
MYO7A		inserm.fr	GRCh37	11	76867078	76867078	+	synonymous_variant	Silent	SNP	T	C	C			BCM257T																					ENST00000409709.3:c.411T>C	p.Ile137=	p.I137=	ENST00000409709	NM_000260.3	137	atT/atC	0	validated		synonymous	
PION		inserm.fr	GRCh37	7	76959602	76959602	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2206T																					ENST00000257626.7:c.1628A>G	p.Asn543Ser	p.N543S	ENST00000257626	NM_017439.3	543	aAc/aGc	0	not done		benign	
ENGASE		inserm.fr	GRCh37	17	77079646	77079646	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1736T																					ENST00000579016.1:c.1225G>C	p.Gly409Arg	p.G409R	ENST00000579016	NM_001042573.2	409	Ggt/Cgt	0	not done		probablydamaging	
SCAPER		inserm.fr	GRCh37	15	77087732	77087732	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC465T									Valid												ENST00000563290.1:c.661A>G	p.Ser221Gly	p.S221G	ENST00000563290		221	Agt/Ggt	0	validated		probablydamaging	
SCARB2		inserm.fr	GRCh37	4	77089570	77089570	+	synonymous_variant	Silent	SNP	T	C	C			CHC1629T																					ENST00000264896.2:c.1173A>G	p.Lys391=	p.K391=	ENST00000264896	NM_005506.3	391	aaA/aaG	0	not done		synonymous	
RBFOX3		inserm.fr	GRCh37	17	77097698	77097698	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1731T																					ENST00000415831.1:c.536C>G	p.Thr179Ser	p.T179S	ENST00000415831		179	aCc/aGc	0	not done		probablydamaging	
MAGT1		inserm.fr	GRCh37	X	77150821	77150821	+	synonymous_variant	Silent	SNP	G	C	C			CHC433T																					ENST00000358075.6:c.183C>G	p.Ala61=	p.A61=	ENST00000358075	NM_032121.5	61	gcC/gcG	0	validated		synonymous	
OVCH2		inserm.fr	GRCh37	11	7723323	7723323	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1205T																					ENST00000454689.1:c.499C>G	p.Arg167Gly	p.R167G	ENST00000454689	NM_198185.3	167	Cgg/Ggg	0	not done		benign	
ADAMTS18		inserm.fr	GRCh37	16	77327084	77327084	+	synonymous_variant	Silent	SNP	G	C	C			CHC2321T																					ENST00000282849.5:c.3078C>G	p.Leu1026=	p.L1026=	ENST00000282849	NM_199355.2	1026	ctC/ctG	0	validated		synonymous	
ADAMTS18		inserm.fr	GRCh37	16	77356314	77356314	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1044T																					ENST00000282849.5:c.2082T>G	p.Phe694Leu	p.F694L	ENST00000282849	NM_199355.2	694	ttT/ttG	0	not done		possiblydamaging	
PGK1		inserm.fr	GRCh37	X	77373669	77373669	+	splice_donor_variant	Splice_Site	SNP	T	C	C			BCB157T																					ENST00000373316.4:c.641+2T>C		p.X214_splice	ENST00000373316	NM_000291.3			0	validated		damaging	
E2F7		inserm.fr	GRCh37	12	77421761	77421761	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1595T																					ENST00000322886.7:c.2042A>G	p.Asn681Ser	p.N681S	ENST00000322886	NM_203394.2	681	aAt/aGt	0	validated		benign	
CTDP1		inserm.fr	GRCh37	18	77440160	77440160	+	synonymous_variant	Silent	SNP	G	C	C			CHC322T																					ENST00000299543.7:c.213G>C	p.Gly71=	p.G71=	ENST00000299543	NM_001202504.1	71	ggG/ggC	0	validated		synonymous	
TRPM6		inserm.fr	GRCh37	9	77470448	77470448	+	synonymous_variant	Silent	SNP	T	C	C			BCB307T																					ENST00000360774.1:c.147A>G	p.Leu49=	p.L49=	ENST00000360774	NM_017662.4	49	ttA/ttG	0	validated		synonymous	
PHTF2		inserm.fr	GRCh37	7	77549670	77549670	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1566T																					ENST00000416283.2:c.749A>C	p.Lys250Thr	p.K250T	ENST00000416283	NM_020432.4	250	aAg/aCg	0	not done		benign	
FBXL3		inserm.fr	GRCh37	13	77581690	77581690	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC909T																					ENST00000355619.5:c.877T>G	p.Phe293Val	p.F293V	ENST00000355619	NM_012158.2	293	Ttt/Gtt	0	not done		probablydamaging	
MYCBP2		inserm.fr	GRCh37	13	77655628	77655628	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1192T																					ENST00000544440.2:c.11238C>G	p.Ile3746Met	p.I3746M	ENST00000544440		3746	atC/atG	0	not done		probablydamaging	
MYCBP2		inserm.fr	GRCh37	13	77779515	77779515	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1742T																					ENST00000544440.2:c.3605A>G	p.His1202Arg	p.H1202R	ENST00000544440		1202	cAt/cGt	0	not done		possiblydamaging	
SOWAHB		inserm.fr	GRCh37	4	77816846	77816846	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2103T																					ENST00000334306.2:c.2157A>G	p.Ile719Met	p.I719M	ENST00000334306	NM_001029870.1	719	atA/atG	0	not done		probablydamaging	
MYCBP2		inserm.fr	GRCh37	13	77835364	77835364	+	synonymous_variant	Silent	SNP	T	C	C			CHC2206T																					ENST00000544440.2:c.1680A>G	p.Ala560=	p.A560=	ENST00000544440		560	gcA/gcG	0	not done		synonymous	
MYCBP2		inserm.fr	GRCh37	13	77842047	77842047	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1085T																					ENST00000544440.2:c.1172A>G	p.Asn391Ser	p.N391S	ENST00000544440		391	aAt/aGt	0	validated		benign	
ISM2		inserm.fr	GRCh37	14	77951109	77951109	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1534T																					ENST00000342219.4:c.295A>G	p.Thr99Ala	p.T99A	ENST00000342219	NM_199296.2	99	Acc/Gcc	0	validated		benign	
ZZZ3		inserm.fr	GRCh37	1	78031850	78031850	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1040T																					ENST00000370801.3:c.2483T>G	p.Ile828Arg	p.I828R	ENST00000370801	NM_015534.4	828	aTa/aGa	0	not done		possiblydamaging	
CARD14		inserm.fr	GRCh37	17	78166311	78166311	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1601T																					ENST00000573882.1:c.1249G>C	p.Glu417Gln	p.E417Q	ENST00000573882		417	Gaa/Caa	0	not done		possiblydamaging	
SCEL		inserm.fr	GRCh37	13	78176260	78176260	+	splice_donor_variant	Splice_Site	SNP	G	C	C			CHC1754T																					ENST00000349847.3:c.977+1G>C		p.X326_splice	ENST00000349847	NM_144777.2			0	not done		damaging	
USP33		inserm.fr	GRCh37	1	78205087	78205087	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1747T																					ENST00000370793.1:c.307C>G	p.Leu103Val	p.L103V	ENST00000370793	NM_015017.4	103	Cta/Gta	0	not done		possiblydamaging	
RNF213		inserm.fr	GRCh37	17	78314125	78314125	+	synonymous_variant	Silent	SNP	T	C	C			CHC051T																					ENST00000582970.1:c.5958T>C	p.Val1986=	p.V1986=	ENST00000582970	NM_001256071.1	1986	gtT/gtC	0	validated		synonymous	
RNF213		inserm.fr	GRCh37	17	78319332	78319332	+	synonymous_variant	Silent	SNP	T	C	C			CHC1207T																					ENST00000582970.1:c.7197T>C	p.Asn2399=	p.N2399=	ENST00000582970	NM_001256071.1	2399	aaT/aaC	0	not done		synonymous	
RNF213		inserm.fr	GRCh37	17	78367193	78367193	+	synonymous_variant	Silent	SNP	T	C	C			CHC1185T																					ENST00000582970.1:c.15519T>C	p.Ile5173=	p.I5173=	ENST00000582970	NM_001256071.1	5173	atT/atC	0	not done		synonymous	
TENM4		inserm.fr	GRCh37	11	78369393	78369393	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCB109T																					ENST00000278550.7:c.8020T>G	p.Cys2674Gly	p.C2674G	ENST00000278550	NM_001098816.2	2674	Tgc/Ggc	0	validated		benign	
NEXN		inserm.fr	GRCh37	1	78395049	78395049	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC314T																					ENST00000334785.7:c.913T>C	p.Tyr305His	p.Y305H	ENST00000334785	NM_144573.3	305	Tac/Cac	0	validated		possiblydamaging	
NAV3		inserm.fr	GRCh37	12	78401126	78401126	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC258T																					ENST00000536525.2:c.1808A>C	p.Gln603Pro	p.Q603P	ENST00000536525	NM_014903.4	603	cAa/cCa	0	validated		benign	
GPR174		inserm.fr	GRCh37	X	78427087	78427087	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1775T																					ENST00000276077.1:c.583G>C	p.Val195Leu	p.V195L	ENST00000276077	NM_032553.1	195	Gta/Cta	0	validated		benign	
NPTX1		inserm.fr	GRCh37	17	78449963	78449963	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1566T																					ENST00000306773.4:c.284T>G	p.Leu95Arg	p.L95R	ENST00000306773	NM_002522.3	95	cTg/cGg	0	not done		possiblydamaging	
EDNRB		inserm.fr	GRCh37	13	78493648	78493648	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC917T																					ENST00000377211.4:c.103T>G	p.Cys35Gly	p.C35G	ENST00000377211	NM_001201397.1	35	Tgc/Ggc	0	validated			
NAV3		inserm.fr	GRCh37	12	78513171	78513171	+	synonymous_variant	Silent	SNP	T	C	C			BCB167T																					ENST00000536525.2:c.3195T>C	p.Phe1065=	p.F1065=	ENST00000536525	NM_014903.4	1065	ttT/ttC	0	validated		synonymous	
NAV3		inserm.fr	GRCh37	12	78574716	78574716	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC429T									Valid												ENST00000536525.2:c.5517G>C	p.Lys1839Asn	p.K1839N	ENST00000536525	NM_014903.4	1839	aaG/aaC	0	validated		probablydamaging	
FASTKD3		inserm.fr	GRCh37	5	7867364	7867364	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC433T									Valid												ENST00000264669.5:c.833A>G	p.Asn278Ser	p.N278S	ENST00000264669	NM_024091.3	278	aAt/aGt	0	validated		possiblydamaging	
FASTKD3		inserm.fr	GRCh37	5	7867485	7867485	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1531T																					ENST00000264669.5:c.712C>G	p.Leu238Val	p.L238V	ENST00000264669	NM_024091.3	238	Ctc/Gtc	0	not done		benign	
FASTKD3		inserm.fr	GRCh37	5	7867711	7867711	+	synonymous_variant	Silent	SNP	T	C	C			CHC1756T																					ENST00000264669.5:c.486A>G	p.Leu162=	p.L162=	ENST00000264669	NM_024091.3	162	ttA/ttG	0	not done		synonymous	
CNOT6L		inserm.fr	GRCh37	4	78678039	78678039	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM683T																					ENST00000264903.4:c.467A>G	p.Asn156Ser	p.N156S	ENST00000264903	NM_144571.2	156	aAc/aGc	0	validated		benign	
PCSK5		inserm.fr	GRCh37	9	78953327	78953327	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1041T									Valid												ENST00000545128.1:c.4849T>C	p.Cys1617Arg	p.C1617R	ENST00000545128	NM_001190482.1	1617	Tgt/Cgt	0	validated			
ADAMTS7		inserm.fr	GRCh37	15	79083031	79083031	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2127T																					ENST00000388820.4:c.1009A>G	p.Thr337Ala	p.T337A	ENST00000388820	NM_014272.3	337	Act/Gct	0	not done		benign	
CMYA5		inserm.fr	GRCh37	5	79095206	79095206	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC793T																					ENST00000446378.2:c.11977T>C	p.Tyr3993His	p.Y3993H	ENST00000446378	NM_153610.3	3993	Tac/Cac	0	validated		possiblydamaging	
KCNMA1		inserm.fr	GRCh37	10	79163699	79163699	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC304T																					ENST00000404857.1:c.461C>G	p.Ala154Gly	p.A154G	ENST00000404857	NM_001161353.1	154	gCc/gGc	0	validated		benign	
POU4F1		inserm.fr	GRCh37	13	79175860	79175860	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC896T																					ENST00000377208.5:c.950T>G	p.Leu317Arg	p.L317R	ENST00000377208	NM_006237.3	317	cTc/cGc	0	not done		probablydamaging	
NRXN3		inserm.fr	GRCh37	14	79181378	79181378	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCB111T									Valid												ENST00000554719.1:c.821G>C	p.Cys274Ser	p.C274S	ENST00000554719	NM_004796.5	274	tGt/tCt	0	validated		probablydamaging	
RNF219		inserm.fr	GRCh37	13	79190186	79190186	+	synonymous_variant	Silent	SNP	T	C	C			CHC258T																					ENST00000282003.6:c.1710A>G	p.Ser570=	p.S570=	ENST00000282003	NM_024546.3	570	tcA/tcG	0	validated		synonymous	
ENTHD2		inserm.fr	GRCh37	17	79210523	79210523	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM325T																					ENST00000300714.3:c.292A>G	p.Ile98Val	p.I98V	ENST00000300714	NM_144679.2	98	Atc/Gtc	0	validated		benign	
REG3G		inserm.fr	GRCh37	2	79255030	79255030	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1746T																					ENST00000272324.5:c.431G>C	p.Gly144Ala	p.G144A	ENST00000272324	NM_001008387.2	144	gGc/gCc	0	not done		possiblydamaging	
REG3G		inserm.fr	GRCh37	2	79255045	79255045	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC909T																					ENST00000272324.5:c.446T>C	p.Leu149Pro	p.L149P	ENST00000272324	NM_001008387.2	149	cTg/cCg	0	not done		probablydamaging	
TBX22		inserm.fr	GRCh37	X	79282799	79282799	+	synonymous_variant	Silent	SNP	T	C	C			BCM723T																					ENST00000373294.5:c.843T>C	p.Phe281=	p.F281=	ENST00000373294	NM_016954.2	281	ttT/ttC	0	validated		synonymous	
FRAS1		inserm.fr	GRCh37	4	79334140	79334140	+	synonymous_variant	Silent	SNP	T	C	C			CHC805T																					ENST00000264895.6:c.4326T>C	p.Asn1442=	p.N1442=	ENST00000264895	NM_025074.6	1442	aaT/aaC	0	not done		synonymous	
REG1A		inserm.fr	GRCh37	2	79348687	79348687	+	splice_acceptor_variant	Splice_Site	SNP	G	C	C			CHC1749T																					ENST00000233735.1:c.65-1G>C		p.X22_splice	ENST00000233735	NM_002909.4			0	not done		damaging	
REG3A		inserm.fr	GRCh37	2	79385786	79385786	+	synonymous_variant	Silent	SNP	T	C	C			CHC1734T																					ENST00000393878.1:c.186A>G	p.Thr62=	p.T62=	ENST00000393878	NM_138938.2	62	acA/acG	0	not done		synonymous	
REG3A		inserm.fr	GRCh37	2	79385786	79385786	+	synonymous_variant	Silent	SNP	T	C	C			CHC2034T																					ENST00000393878.1:c.186A>G	p.Thr62=	p.T62=	ENST00000393878	NM_138938.2	62	acA/acG	0	not done		synonymous	
REG3A		inserm.fr	GRCh37	2	79385786	79385786	+	synonymous_variant	Silent	SNP	T	C	C			CHC2113T																					ENST00000393878.1:c.186A>G	p.Thr62=	p.T62=	ENST00000393878	NM_138938.2	62	acA/acG	0	not done		synonymous	
FRAS1		inserm.fr	GRCh37	4	79403104	79403104	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1626T																					ENST00000264895.6:c.8590G>C	p.Gly2864Arg	p.G2864R	ENST00000264895	NM_025074.6	2864	Ggt/Cgt	0	not done		probablydamaging	
PRUNE2		inserm.fr	GRCh37	9	79465439	79465439	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC155T																					ENST00000376718.3:c.284A>G	p.His95Arg	p.H95R	ENST00000376718	NM_015225.2	95	cAt/cGt	0	validated		possiblydamaging	
OR10A6		inserm.fr	GRCh37	11	7949717	7949717	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1148T																					ENST00000309838.2:c.493A>G	p.Ser165Gly	p.S165G	ENST00000309838	NM_001004461.1	165	Agt/Ggt	0	not done		possiblydamaging	
PKIA		inserm.fr	GRCh37	8	79510637	79510637	+	synonymous_variant	Silent	SNP	T	C	C			CHC205T																					ENST00000396418.2:c.18T>C	p.Thr6=	p.T6=	ENST00000396418	NM_006823.3	6	acT/acC	0	validated		synonymous	
C17orf70		inserm.fr	GRCh37	17	79514516	79514516	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1534T																					ENST00000327787.8:c.1592A>G	p.Asn531Ser	p.N531S	ENST00000327787		531	aAc/aGc	0	validated		possiblydamaging	
FOXB2		inserm.fr	GRCh37	9	79635715	79635715	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1754T																					ENST00000376708.1:c.1145T>C	p.Leu382Pro	p.L382P	ENST00000376708	NM_001013735.1	382	cTc/cCc	0	not done		probablydamaging	
IL7		inserm.fr	GRCh37	8	79648748	79648748	+	synonymous_variant	Silent	SNP	T	C	C			CHC1720T																					ENST00000263851.4:c.375A>G	p.Lys125=	p.K125=	ENST00000263851	NM_001199886.1	125	aaA/aaG	0	not done		synonymous	
MRPL12		inserm.fr	GRCh37	17	79671724	79671724	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1185T																					ENST00000333676.3:c.323T>C	p.Val108Ala	p.V108A	ENST00000333676	NM_002949.3	108	gTc/gCc	0	not done			
MAP2K7		inserm.fr	GRCh37	19	7974998	7974998	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1186T																					ENST00000397979.3:c.317T>C	p.Leu106Pro	p.L106P	ENST00000397979	NM_145185.2	106	cTg/cCg	0	not done		probablydamaging	
PAWR		inserm.fr	GRCh37	12	79988139	79988139	+	synonymous_variant	Silent	SNP	T	C	C			CHC892T																					ENST00000328827.4:c.906A>G	p.Lys302=	p.K302=	ENST00000328827	NM_002583.2	302	aaA/aaG	0	not done		synonymous	
LRRC45		inserm.fr	GRCh37	17	79988219	79988219	+	synonymous_variant	Silent	SNP	A	C	C			CHC796T																					ENST00000306688.3:c.1693A>C	p.Arg565=	p.R565=	ENST00000306688	NM_144999.2	565	Agg/Cgg	0	validated		synonymous	
BRWD3		inserm.fr	GRCh37	X	79991491	79991491	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC799T																					ENST00000373275.4:c.910T>G	p.Phe304Val	p.F304V	ENST00000373275	NM_153252.4	304	Ttt/Gtt	0	not done		possiblydamaging	
VPS13A		inserm.fr	GRCh37	9	79996908	79996908	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1148T																					ENST00000360280.3:c.9094G>C	p.Glu3032Gln	p.E3032Q	ENST00000360280	NM_033305.2	3032	Gaa/Caa	0	not done		possiblydamaging	
ALOXE3		inserm.fr	GRCh37	17	8007479	8007479	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2099T																					ENST00000318227.3:c.2135T>G	p.Ile712Ser	p.I712S	ENST00000318227	NM_001165960.1	712	aTc/aGc	0	not done		possiblydamaging	
GNAT3		inserm.fr	GRCh37	7	80091576	80091576	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1601T																					ENST00000398291.3:c.773A>G	p.Tyr258Cys	p.Y258C	ENST00000398291	NM_001102386.1	258	tAt/tGt	0	not done		benign	
MTHFS		inserm.fr	GRCh37	15	80137655	80137655	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1626T																					ENST00000258874.3:c.509C>G	p.Thr170Ser	p.T170S	ENST00000258874	NM_006441.3	170	aCc/aGc	0	not done		probablydamaging	
PPP1R12A		inserm.fr	GRCh37	12	80184248	80184248	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC1594T																					ENST00000450142.2:c.2665A>G	p.Arg889Gly	p.R889G	ENST00000450142	NM_002480.2	889	Aga/Gga	0	not done		damaging	
CSNK1D		inserm.fr	GRCh37	17	80213307	80213307	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC1568T																					ENST00000314028.6:c.334A>G	p.Met112Val	p.M112V	ENST00000314028	NM_001893.4	112	Atg/Gtg	0	not done		possiblydamaging	
SEMA3C		inserm.fr	GRCh37	7	80374553	80374553	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC902T																					ENST00000265361.3:c.1913A>G	p.Gln638Arg	p.Q638R	ENST00000265361	NM_006379.3	638	cAa/cGa	0	not done		benign	
NARF		inserm.fr	GRCh37	17	80422289	80422289	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC432T																					ENST00000309794.11:c.235G>C	p.Val79Leu	p.V79L	ENST00000309794	NM_031968.2	79	Gtt/Ctt	0	not done		possiblydamaging	
ZCCHC9		inserm.fr	GRCh37	5	80607092	80607092	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1601T																					ENST00000254037.2:c.691A>C	p.Asn231His	p.N231H	ENST00000254037		231	Aat/Cat	0	not done		benign	
PTPRQ		inserm.fr	GRCh37	12	80862498	80862498	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1207T																					ENST00000266688.5:c.908G>C	p.Gly303Ala	p.G303A	ENST00000266688		303	gGa/gCa	0	not done		possiblydamaging	
SLC2A3		inserm.fr	GRCh37	12	8086462	8086462	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC433T																					ENST00000075120.7:c.52A>G	p.Thr18Ala	p.T18A	ENST00000075120	NM_006931.2	18	Aca/Gca	0	validated		benign	
PTPRQ		inserm.fr	GRCh37	12	81004381	81004381	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2048T																					ENST00000266688.5:c.4883T>C	p.Met1628Thr	p.M1628T	ENST00000266688		1628	aTg/aCg	0	not done		benign	
PTPRQ		inserm.fr	GRCh37	12	81064142	81064142	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM489T									Valid												ENST00000266688.5:c.6461T>C	p.Val2154Ala	p.V2154A	ENST00000266688		2154	gTt/gCt	0	validated		possiblydamaging	
GCSH		inserm.fr	GRCh37	16	81121219	81121219	+	synonymous_variant	Silent	SNP	T	C	C			CHC303T																					ENST00000315467.3:c.279A>G	p.Lys93=	p.K93=	ENST00000315467	NM_004483.4	93	aaA/aaG	0	validated		synonymous	
RPLP2		inserm.fr	GRCh37	11	811610	811610	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1598T																					ENST00000321153.4:c.137T>C	p.Leu46Pro	p.L46P	ENST00000321153	NM_001004.3	46	cTg/cCg	0	not done		probablydamaging	
HGF		inserm.fr	GRCh37	7	81350101	81350101	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1629T																					ENST00000222390.5:c.1231A>G	p.Thr411Ala	p.T411A	ENST00000222390	NM_000601.4	411	Aca/Gca	0	not done		probablydamaging	
ZBTB10		inserm.fr	GRCh37	8	81398097	81398097	+	5_prime_UTR_variant	5'UTR	SNP	T	C	C			CHC902T																					ENST00000430430.1:c.-584T>C		*195*	ENST00000430430				0	not done			
LPPR3		inserm.fr	GRCh37	19	814981	814981	+	synonymous_variant	Silent	SNP	G	C	C			CHC609T																					ENST00000359894.2:c.504C>G	p.Pro168=	p.P168=	ENST00000359894	NM_024888.2	168	ccC/ccG	0	validated		synonymous	
RIC3		inserm.fr	GRCh37	11	8159016	8159016	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			BCM265T																					ENST00000309737.6:c.430A>G	p.Ser144Gly	p.S144G	ENST00000309737		144	Agt/Ggt	0	validated		benign	
TMC3		inserm.fr	GRCh37	15	81648078	81648078	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC794T																					ENST00000359440.5:c.923A>G	p.Lys308Arg	p.K308R	ENST00000359440	NM_001080532.1	308	aAa/aGa	0	validated		benign	
PLCG2		inserm.fr	GRCh37	16	81819760	81819760	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1747T																					ENST00000359376.3:c.166A>C	p.Lys56Gln	p.K56Q	ENST00000359376	NM_002661.3	56	Aag/Cag	0	not done		possiblydamaging	
FBN3		inserm.fr	GRCh37	19	8182169	8182169	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC892T																					ENST00000600128.1:c.3470A>G	p.Asn1157Ser	p.N1157S	ENST00000600128		1157	aAc/aGc	0	not done		benign	
STON2		inserm.fr	GRCh37	14	81837394	81837394	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB325T									Valid												ENST00000555447.1:c.509A>G	p.Asp170Gly	p.D170G	ENST00000555447	NM_001256430.1	170	gAt/gGt	0	validated		probablydamaging	
STON2		inserm.fr	GRCh37	14	81862393	81862393	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1715T																					ENST00000555447.1:c.218A>G	p.Glu73Gly	p.E73G	ENST00000555447	NM_001256430.1	73	gAa/gGa	0	not done		possiblydamaging	
PLCG2		inserm.fr	GRCh37	16	81965175	81965175	+	synonymous_variant	Silent	SNP	G	C	C			CHC1185T																					ENST00000359376.3:c.2655G>C	p.Pro885=	p.P885=	ENST00000359376	NM_002661.3	885	ccG/ccC	0	not done		synonymous	
DYDC2		inserm.fr	GRCh37	10	82122768	82122768	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC121T																					ENST00000372198.1:c.251T>C	p.Met84Thr	p.M84T	ENST00000372198	NM_001270042.1	84	aTg/aCg	0	validated		benign	
HSD17B2		inserm.fr	GRCh37	16	82124603	82124603	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC326T									Valid												ENST00000199936.4:c.761G>C	p.Gly254Ala	p.G254A	ENST00000199936	NM_002153.2	254	gGa/gCa	0	validated		probablydamaging	
SH2D4B		inserm.fr	GRCh37	10	82298115	82298115	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1629T																					ENST00000339284.2:c.28T>C	p.Tyr10His	p.Y10H	ENST00000339284	NM_207372.2	10	Tac/Cac	0	not done		probablydamaging	
TMEM167A		inserm.fr	GRCh37	5	82357720	82357720	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2113T																					ENST00000502346.1:c.124A>G	p.Ile42Val	p.I42V	ENST00000502346	NM_174909.4	42	Ata/Gta	0	not done		benign	
RASGEF1B		inserm.fr	GRCh37	4	82366994	82366994	+	splice_acceptor_variant	Splice_Site	SNP	T	C	C			BCM321T									Valid												ENST00000264400.2:c.730-2A>G		p.X244_splice	ENST00000264400	NM_152545.1			0	validated		damaging	
EFTUD1		inserm.fr	GRCh37	15	82532878	82532878	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1717T																					ENST00000268206.7:c.397C>G	p.Gln133Glu	p.Q133E	ENST00000268206	NM_024580.5	133	Caa/Gaa	0	not done		probablydamaging	
PCLO		inserm.fr	GRCh37	7	82545405	82545405	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC793T																					ENST00000333891.9:c.11897C>G	p.Thr3966Ser	p.T3966S	ENST00000333891	NM_033026.5	3966	aCt/aGt	0	validated		benign	
PCLO		inserm.fr	GRCh37	7	82545647	82545647	+	stop_gained	Nonsense_Mutation	SNP	G	C	C			CHC1743T																					ENST00000333891.9:c.11655C>G	p.Tyr3885Ter	p.Y3885*	ENST00000333891	NM_033026.5	3885	taC/taG	0	not done		damaging	
PCLO		inserm.fr	GRCh37	7	82583993	82583993	+	synonymous_variant	Silent	SNP	T	C	C			BCB111T																					ENST00000333891.9:c.6276A>G	p.Thr2092=	p.T2092=	ENST00000333891	NM_033026.5	2092	acA/acG	0	validated		synonymous	
SLC10A5		inserm.fr	GRCh37	8	82607137	82607137	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1209T																					ENST00000518568.1:c.71T>G	p.Leu24Arg	p.L24R	ENST00000518568	NM_001010893.2	24	cTc/cGc	0	not done		probablydamaging	
GOLGA6L10		inserm.fr	GRCh37	15	82637460	82637460	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC361TA																					ENST00000439287.4:c.626A>G	p.His209Arg	p.H209R	ENST00000439287	NM_001164465.2	209	cAt/cGt	0	validated			
VCAN		inserm.fr	GRCh37	5	82817409	82817409	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1055T																					ENST00000265077.3:c.3284T>C	p.Val1095Ala	p.V1095A	ENST00000265077	NM_004385.4	1095	gTt/gCt	0	validated		probablydamaging	
VCAN		inserm.fr	GRCh37	5	82836135	82836135	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1137T																					ENST00000265077.3:c.7313T>C	p.Ile2438Thr	p.I2438T	ENST00000265077	NM_004385.4	2438	aTt/aCt	0	not done		benign	
VCAN		inserm.fr	GRCh37	5	82837449	82837449	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM543T																					ENST00000265077.3:c.8627T>C	p.Phe2876Ser	p.F2876S	ENST00000265077	NM_004385.4	2876	tTc/tCc	0	validated		benign	
PCF11		inserm.fr	GRCh37	11	82877707	82877707	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2215T																					ENST00000298281.4:c.1768A>C	p.Ser590Arg	p.S590R	ENST00000298281	NM_015885.3	590	Agt/Cgt	0	not done		benign	
PCF11		inserm.fr	GRCh37	11	82877707	82877707	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC314T									Valid												ENST00000298281.4:c.1768A>C	p.Ser590Arg	p.S590R	ENST00000298281	NM_015885.3	590	Agt/Cgt	0	validated		benign	
PCF11		inserm.fr	GRCh37	11	82877707	82877707	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T									Valid												ENST00000298281.4:c.1768A>C	p.Ser590Arg	p.S590R	ENST00000298281	NM_015885.3	590	Agt/Cgt	0	validated		benign	
ANKRD42		inserm.fr	GRCh37	11	82956642	82956642	+	intron_variant	Intron	SNP	A	C	C			CHC2034T																					ENST00000393392.2:c.1112-2343A>C		*371*	ENST00000393392	NM_182603.2			0	not done			
SEMA3E		inserm.fr	GRCh37	7	82996936	82996936	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC794T																					ENST00000307792.3:c.2294A>G	p.His765Arg	p.H765R	ENST00000307792	NM_012431.2	765	cAt/cGt	0	validated		probablydamaging	
TMTC2		inserm.fr	GRCh37	12	83290176	83290176	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1603T																					ENST00000321196.3:c.1234T>C	p.Phe412Leu	p.F412L	ENST00000321196	NM_152588.1	412	Ttt/Ctt	0	not done		probablydamaging	
BTBD1		inserm.fr	GRCh37	15	83686871	83686871	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC909T																					ENST00000261721.4:c.1397A>G	p.Asn466Ser	p.N466S	ENST00000261721	NM_001011885.1	466	aAt/aGt	0	not done		probablydamaging	
HDX		inserm.fr	GRCh37	X	83724319	83724319	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2115T																					ENST00000297977.5:c.412A>G	p.Ile138Val	p.I138V	ENST00000297977	NM_001177479.1	138	Att/Gtt	0	not done		benign	
CD151		inserm.fr	GRCh37	11	837335	837335	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1592T																					ENST00000397420.3:c.437T>C	p.Val146Ala	p.V146A	ENST00000397420		146	gTg/gCg	0	not done		possiblydamaging	
SEC31A		inserm.fr	GRCh37	4	83772638	83772638	+	synonymous_variant	Silent	SNP	T	C	C			CHC097T																					ENST00000395310.2:c.2274A>G	p.Ala758=	p.A758=	ENST00000395310	NM_001077207.2	758	gcA/gcG	0	not done		synonymous	
TM6SF1		inserm.fr	GRCh37	15	83796223	83796223	+	synonymous_variant	Silent	SNP	G	C	C			BCM543T																					ENST00000322019.9:c.915G>C	p.Leu305=	p.L305=	ENST00000322019		305	ctG/ctC	0	validated		synonymous	
DLG2		inserm.fr	GRCh37	11	83810015	83810015	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC798T																					ENST00000376104.2:c.700A>G	p.Ile234Val	p.I234V	ENST00000376104	NM_001142699.1	234	Att/Gtt	0	validated		possiblydamaging	
SEMA3A		inserm.fr	GRCh37	7	83823849	83823849	+	synonymous_variant	Silent	SNP	T	C	C			BCM371T																					ENST00000265362.4:c.54A>G	p.Ala18=	p.A18=	ENST00000265362	NM_006080.2	18	gcA/gcG	0	validated		synonymous	
PGM3		inserm.fr	GRCh37	6	83900561	83900561	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1704T																					ENST00000506587.1:c.255A>G	p.Ile85Met	p.I85M	ENST00000506587	NM_001199917.1	85	atA/atG	0	not done		probablydamaging	
SLC35B3		inserm.fr	GRCh37	6	8413794	8413794	+	synonymous_variant	Silent	SNP	T	C	C			CHC1205T																					ENST00000379660.4:c.1194A>G	p.Ala398=	p.A398=	ENST00000379660	NM_015948.3	398	gcA/gcG	0	not done		synonymous	
STK33		inserm.fr	GRCh37	11	8414254	8414254	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1708T																					ENST00000447869.1:c.1348A>G	p.Thr450Ala	p.T450A	ENST00000447869		450	Act/Gct	0	not done		benign	
ACOX3		inserm.fr	GRCh37	4	8416067	8416067	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1611T																					ENST00000356406.5:c.495T>G	p.Ser165Arg	p.S165R	ENST00000356406	NM_003501.2	165	agT/agG	0	not done		probablydamaging	
COQ2		inserm.fr	GRCh37	4	84200103	84200103	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC1629T																					ENST00000311469.4:c.568A>G	p.Lys190Glu	p.K190E	ENST00000311469	NM_015697.7	190	Aag/Gag	0	not done		possiblydamaging	
HELQ		inserm.fr	GRCh37	4	84368159	84368159	+	synonymous_variant	Silent	SNP	T	C	C			CHC2358T																					ENST00000295488.3:c.1221A>G	p.Glu407=	p.E407=	ENST00000295488	NM_133636.2	407	gaA/gaG	0	validated		synonymous	
ZNF711		inserm.fr	GRCh37	X	84526673	84526673	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1010T																					ENST00000373165.3:c.2125T>C	p.Cys709Arg	p.C709R	ENST00000373165	NM_021998.4	709	Tgt/Cgt	0	not done		probablydamaging	
RIPPLY2		inserm.fr	GRCh37	6	84566984	84566984	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1192T																					ENST00000369689.1:c.263G>C	p.Cys88Ser	p.C88S	ENST00000369689	NM_001009994.2	88	tGt/tCt	0	not done		probablydamaging	
SEMA3D		inserm.fr	GRCh37	7	84649576	84649576	+	synonymous_variant	Silent	SNP	T	C	C			CHC2099T																					ENST00000284136.6:c.1476A>G	p.Val492=	p.V492=	ENST00000284136	NM_152754.2	492	gtA/gtG	0	not done		synonymous	
ADAMTSL3		inserm.fr	GRCh37	15	84651681	84651681	+	synonymous_variant	Silent	SNP	A	C	C			BCM337T																					ENST00000286744.5:c.3301A>C	p.Arg1101=	p.R1101=	ENST00000286744	NM_207517.2	1101	Aga/Cga	0	validated		synonymous	
NRG3		inserm.fr	GRCh37	10	84744955	84744955	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2200T																					ENST00000372141.2:c.1685A>C	p.Asp562Ala	p.D562A	ENST00000372141	NM_001165972.1	562	gAc/gCc	0	not done		possiblydamaging	
DNASE2B		inserm.fr	GRCh37	1	84880325	84880325	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC798T									Valid												ENST00000370665.3:c.860A>C	p.Asn287Thr	p.N287T	ENST00000370665	NM_021233.2	287	aAt/aCt	0	validated		probablydamaging	
ZNF592		inserm.fr	GRCh37	15	85341828	85341828	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCB231T																					ENST00000299927.3:c.2746G>C	p.Gly916Arg	p.G916R	ENST00000299927		916	Ggt/Cgt	0	validated		probablydamaging	
TMEM126B		inserm.fr	GRCh37	11	85347122	85347122	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2127T																					ENST00000358867.6:c.542G>C	p.Arg181Thr	p.R181T	ENST00000358867	NM_018480.4	181	aGg/aCg	0	not done		probablydamaging	
TMEM126A		inserm.fr	GRCh37	11	85361320	85361320	+	synonymous_variant	Silent	SNP	T	C	C			BCB111T																					ENST00000304511.2:c.21T>C	p.Asn7=	p.N7=	ENST00000304511	NM_032273.3	7	aaT/aaC	0	validated		synonymous	
TSPAN19		inserm.fr	GRCh37	12	85409737	85409737	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC796T									Valid												ENST00000532498.2:c.608A>G	p.Lys203Arg	p.K203R	ENST00000532498	NM_001100917.1	203	aAa/aGa	0	validated		possiblydamaging	
TBX18		inserm.fr	GRCh37	6	85446896	85446896	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1154T																					ENST00000369663.5:c.1331A>G	p.Gln444Arg	p.Q444R	ENST00000369663	NM_001080508.2	444	cAg/cGg	0	not done		possiblydamaging	
SYDE2		inserm.fr	GRCh37	1	85656003	85656003	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB109T																					ENST00000341460.5:c.1178A>G	p.Asp393Gly	p.D393G	ENST00000341460	NM_032184.1	393	gAc/gGc	0	validated		benign	
PDE8A		inserm.fr	GRCh37	15	85679873	85679873	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1754T																					ENST00000310298.4:c.2362G>C	p.Asp788His	p.D788H	ENST00000310298		788	Gac/Cac	0	not done		probablydamaging	
GSE1		inserm.fr	GRCh37	16	85690006	85690006	+	synonymous_variant	Silent	SNP	T	C	C			CHC1601T																					ENST00000253458.7:c.1047T>C	p.Arg349=	p.R349=	ENST00000253458	NM_014615.3	349	cgT/cgC	0	not done		synonymous	
ZNF595		inserm.fr	GRCh37	4	85778	85778	+	non_coding_transcript_exon_variant	RNA	SNP	G	C	C			CHC892T																					ENST00000380882.5:n.158G>C		*53*	ENST00000380882				0	not done			
GPR78		inserm.fr	GRCh37	4	8584370	8584370	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	C	C			CHC303T																					ENST00000382487.4:c.781A>C	p.Arg261=	p.R261=	ENST00000382487	NM_080819.4	261	Agg/Cgg	0	validated		possiblydamaging	
GHITM		inserm.fr	GRCh37	10	85904722	85904722	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2048T																					ENST00000372134.3:c.433A>C	p.Ile145Leu	p.I145L	ENST00000372134	NM_014394.2	145	Atc/Ctc	0	not done		benign	
LRIT2		inserm.fr	GRCh37	10	85982301	85982301	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1598T																					ENST00000372113.4:c.1028A>G	p.His343Arg	p.H343R	ENST00000372113	NM_001017924.2	343	cAt/cGt	0	not done		benign	
LRIT2		inserm.fr	GRCh37	10	85984825	85984825	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1207T																					ENST00000372113.4:c.156C>G	p.Asn52Lys	p.N52K	ENST00000372113	NM_001017924.2	52	aaC/aaG	0	not done		possiblydamaging	
GAK		inserm.fr	GRCh37	4	860265	860265	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC205T																					ENST00000314167.4:c.2930A>G	p.Asn977Ser	p.N977S	ENST00000314167	NM_005255.2	977	aAt/aGt	0	validated		benign	
LRRCC1		inserm.fr	GRCh37	8	86044192	86044192	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2362T																					ENST00000360375.3:c.1964A>C	p.Gln655Pro	p.Q655P	ENST00000360375	NM_033402.4	655	cAa/cCa	0	validated		benign	
DACH2		inserm.fr	GRCh37	X	86067968	86067968	+	synonymous_variant	Silent	SNP	T	C	C			CHC1725T																					ENST00000373125.4:c.1350T>C	p.Asp450=	p.D450=	ENST00000373125	NM_053281.3	450	gaT/gaC	0	not done		synonymous	
FLRT2		inserm.fr	GRCh37	14	86088321	86088321	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC912T									Valid												ENST00000330753.4:c.463T>C	p.Phe155Leu	p.F155L	ENST00000330753	NM_013231.4	155	Ttc/Ctc	0	validated		probablydamaging	
E2F5		inserm.fr	GRCh37	8	86119691	86119691	+	synonymous_variant	Silent	SNP	T	C	C			CHC898T																					ENST00000416274.2:c.582T>C	p.Ser194=	p.S194=	ENST00000416274	NM_001083588.1	194	tcT/tcC	0	not done		synonymous	
ZNHIT6		inserm.fr	GRCh37	1	86144451	86144451	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1154T																					ENST00000370574.3:c.1102A>G	p.Lys368Glu	p.K368E	ENST00000370574		368	Aaa/Gaa	0	not done		possiblydamaging	
NT5E		inserm.fr	GRCh37	6	86194993	86194993	+	synonymous_variant	Silent	SNP	A	C	C			CHC303T																					ENST00000257770.3:c.792A>C	p.Pro264=	p.P264=	ENST00000257770	NM_002526.3	264	ccA/ccC	0	validated		synonymous	
POLR1A		inserm.fr	GRCh37	2	86292429	86292429	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1545T																					ENST00000263857.6:c.2026C>G	p.Leu676Val	p.L676V	ENST00000263857		676	Ctg/Gtg	0	not done		benign	
SNX14		inserm.fr	GRCh37	6	86303367	86303367	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC451T																					ENST00000314673.3:c.70A>G	p.Ile24Val	p.I24V	ENST00000314673	NM_153816.3	24	Atc/Gtc	0	validated		benign	
KLHL25		inserm.fr	GRCh37	15	86312473	86312473	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1591T																					ENST00000337975.5:c.569A>G	p.Lys190Arg	p.K190R	ENST00000337975	NM_022480.3	190	aAg/aGg	0	not done		benign	
SYNCRIP		inserm.fr	GRCh37	6	86324563	86324563	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC912T																					ENST00000369622.3:c.1783C>G	p.Leu595Val	p.L595V	ENST00000369622	NM_001159675.1	595	Ctc/Gtc	0	validated		possiblydamaging	
SLITRK6		inserm.fr	GRCh37	13	86368728	86368728	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM711T																					ENST00000400286.2:c.1916A>G	p.Tyr639Cys	p.Y639C	ENST00000400286	NM_032229.2	639	tAc/tGc	0	validated		benign	
MGAT4C		inserm.fr	GRCh37	12	86373793	86373793	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM337T																					ENST00000604798.1:c.711C>G	p.Ile237Met	p.I237M	ENST00000604798		237	atC/atG	0	validated		possiblydamaging	
IMMT		inserm.fr	GRCh37	2	86398386	86398386	+	synonymous_variant	Silent	SNP	A	C	C			CHC917T																					ENST00000410111.3:c.504T>G	p.Ser168=	p.S168=	ENST00000410111	NM_001100169.1	168	tcT/tcG	0	validated		synonymous	
GKAP1		inserm.fr	GRCh37	9	86414181	86414181	+	synonymous_variant	Silent	SNP	T	C	C			CHC923T																					ENST00000376371.2:c.279A>G	p.Gln93=	p.Q93=	ENST00000376371	NM_025211.3	93	caA/caG	0	not done		synonymous	
KIAA1324L		inserm.fr	GRCh37	7	86568270	86568270	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1704T																					ENST00000450689.2:c.854C>G	p.Ala285Gly	p.A285G	ENST00000450689	NM_001142749.2	285	gCg/gGg	0	not done		probablydamaging	
FOXC2		inserm.fr	GRCh37	16	86601142	86601142	+	synonymous_variant	Silent	SNP	T	C	C			CHC2110Tbis																					ENST00000320354.4:c.201T>C	p.Pro67=	p.P67=	ENST00000320354	NM_005251.2	67	ccT/ccC	0	not done		synonymous	
TRIM66		inserm.fr	GRCh37	11	8671361	8671361	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1534T																					ENST00000402157.2:c.83C>G	p.Ser28Cys	p.S28C	ENST00000402157		28	tCt/tGt	0	validated		probablydamaging	
AGBL1		inserm.fr	GRCh37	15	86807888	86807888	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM325T																					ENST00000441037.2:c.1348G>C	p.Asp450His	p.D450H	ENST00000441037	NM_152336.2	450	Gat/Cat	0	validated		benign	
ODF2L		inserm.fr	GRCh37	1	86842011	86842011	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1731T																					ENST00000359242.3:c.715A>G	p.Thr239Ala	p.T239A	ENST00000359242	NM_001007022.2	239	Act/Gct	0	not done		benign	
ARHGAP24		inserm.fr	GRCh37	4	86863328	86863328	+	synonymous_variant	Silent	SNP	G	C	C			CHC432T																					ENST00000395184.1:c.501G>C	p.Gly167=	p.G167=	ENST00000395184	NM_001025616.2	167	ggG/ggC	0	not done		synonymous	
KLHL4		inserm.fr	GRCh37	X	86887381	86887381	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC896T																					ENST00000373114.4:c.1496T>C	p.Val499Ala	p.V499A	ENST00000373114	NM_057162.2	499	gTt/gCt	0	not done		benign	
SLC28A3		inserm.fr	GRCh37	9	86903072	86903072	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2208T																					ENST00000376238.4:c.1171A>G	p.Thr391Ala	p.T391A	ENST00000376238	NM_001199633.1	391	Aca/Gca	0	not done		possiblydamaging	
CROT		inserm.fr	GRCh37	7	87021903	87021903	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T																					ENST00000419147.2:c.1531A>C	p.Met511Leu	p.M511L	ENST00000419147	NM_001143935.1	511	Atg/Ctg	0	validated		probablydamaging	
SAMD11		inserm.fr	GRCh37	1	871217	871217	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC320T																					ENST00000342066.3:c.371A>C	p.Glu124Ala	p.E124A	ENST00000342066	NM_152486.2	124	gAg/gCg	0	validated		possiblydamaging	
ABCB1		inserm.fr	GRCh37	7	87160810	87160810	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM257T																					ENST00000265724.3:c.2485A>G	p.Ile829Val	p.I829V	ENST00000265724	NM_000927.4	829	Ata/Gta	0	validated		benign	
PIK3R6		inserm.fr	GRCh37	17	8722507	8722507	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1595T									Valid												ENST00000311434.9:c.1886C>G	p.Ser629Cys	p.S629C	ENST00000311434	NM_001010855.2	629	tCt/tGt	0	validated		possiblydamaging	
RUNDC3B		inserm.fr	GRCh37	7	87329853	87329853	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1747T																					ENST00000338056.3:c.406A>C	p.Ser136Arg	p.S136R	ENST00000338056	NM_138290.2	136	Agt/Cgt	0	not done		benign	
SLC25A40		inserm.fr	GRCh37	7	87466110	87466110	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC433T																					ENST00000341119.5:c.839A>G	p.His280Arg	p.H280R	ENST00000341119	NM_018843.3	280	cAt/cGt	0	validated		benign	
GRID1		inserm.fr	GRCh37	10	87484338	87484338	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1734T																					ENST00000327946.7:c.1629T>G	p.Ile543Met	p.I543M	ENST00000327946	NM_017551.2	543	atT/atG	0	not done		probablydamaging	
TMEM161B		inserm.fr	GRCh37	5	87498855	87498855	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1738T																					ENST00000296595.6:c.838A>G	p.Met280Val	p.M280V	ENST00000296595	NM_153354.3	280	Atg/Gtg	0	not done		possiblydamaging	
LOC100129637		inserm.fr	GRCh37	16	87735870	87735870	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1603T																					ENST00000446344.1:c.251A>G	p.Tyr84Cys	p.Y84C	ENST00000446344		84	tAt/tGt	0	not done			
ADAM22		inserm.fr	GRCh37	7	87737505	87737505	+	synonymous_variant	Silent	SNP	T	C	C			CHC1601T																					ENST00000265727.7:c.405T>C	p.Cys135=	p.C135=	ENST00000265727		135	tgT/tgC	0	not done		synonymous	
GAK		inserm.fr	GRCh37	4	877850	877850	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000314167.4:c.1230A>G	p.Ile410Met	p.I410M	ENST00000314167	NM_005255.2	410	atA/atG	0	not done		probablydamaging	
KLHDC4		inserm.fr	GRCh37	16	87790022	87790022	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1594T																					ENST00000270583.5:c.253T>G	p.Tyr85Asp	p.Y85D	ENST00000270583	NM_017566.3	85	Tat/Gat	0	not done		probablydamaging	
ZNF292		inserm.fr	GRCh37	6	87928338	87928338	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC097T																					ENST00000369577.3:c.427A>C	p.Asn143His	p.N143H	ENST00000369577	NM_015021.1	143	Aat/Cat	0	not done		benign	
ZNF292		inserm.fr	GRCh37	6	87969216	87969216	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM711T																					ENST00000369577.3:c.5869A>C	p.Thr1957Pro	p.T1957P	ENST00000369577	NM_015021.1	1957	Aca/Cca	0	validated		probablydamaging	
BANP		inserm.fr	GRCh37	16	88061238	88061238	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM723T																					ENST00000393207.1:c.1021T>C	p.Ser341Pro	p.S341P	ENST00000393207	NM_001173543.1	341	Tcc/Ccc	0	validated		possiblydamaging	
MEF2C		inserm.fr	GRCh37	5	88100609	88100609	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1616T																					ENST00000340208.5:c.64A>G	p.Thr22Ala	p.T22A	ENST00000340208	NM_001193347.1	22	Aca/Gca	0	not done		probablydamaging	
C6orf165		inserm.fr	GRCh37	6	88119620	88119620	+	synonymous_variant	Silent	SNP	T	C	C			CHC909T																					ENST00000369562.4:c.63T>C	p.Cys21=	p.C21=	ENST00000369562	NM_001031743.2	21	tgT/tgC	0	not done		synonymous	
C3orf38		inserm.fr	GRCh37	3	88199294	88199294	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1602T																					ENST00000318887.3:c.92A>C	p.Asp31Ala	p.D31A	ENST00000318887	NM_173824.3	31	gAc/gCc	0	not done		probablydamaging	
SLITRK5		inserm.fr	GRCh37	13	88327689	88327689	+	synonymous_variant	Silent	SNP	A	C	C			CHC451T																					ENST00000325089.6:c.46A>C	p.Arg16=	p.R16=	ENST00000325089	NM_015567.1	16	Aga/Cga	0	not done		synonymous	
C12orf50		inserm.fr	GRCh37	12	88379757	88379757	+	synonymous_variant	Silent	SNP	T	C	C			CHC1148T																					ENST00000298699.2:c.996A>G	p.Ala332=	p.A332=	ENST00000298699	NM_152589.1	332	gcA/gcG	0	not done		synonymous	
LDB3		inserm.fr	GRCh37	10	88451743	88451743	+	synonymous_variant	Silent	SNP	T	C	C			CHC302T																					ENST00000429277.2:c.984T>C	p.Ala328=	p.A328=	ENST00000429277	NM_001171610.1	328	gcT/gcC	0	validated		synonymous	
CEP290		inserm.fr	GRCh37	12	88476990	88476990	+	synonymous_variant	Silent	SNP	A	C	C			CHC805T																					ENST00000552810.1:c.4830T>G	p.Ser1610=	p.S1610=	ENST00000552810	NM_025114.3	1610	tcT/tcG	0	not done		synonymous	
CEP290		inserm.fr	GRCh37	12	88483000	88483000	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1053T									Valid												ENST00000552810.1:c.3838T>G	p.Leu1280Val	p.L1280V	ENST00000552810	NM_025114.3	1280	Ttg/Gtg	0	validated		probablydamaging	
ZNF469		inserm.fr	GRCh37	16	88505708	88505708	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2098T																					ENST00000437464.1:c.11746A>C	p.Lys3916Gln	p.K3916Q	ENST00000437464	NM_001127464.1	3916	Aaa/Caa	0	not done		probablydamaging	
NTRK3		inserm.fr	GRCh37	15	88576233	88576233	+	synonymous_variant	Silent	SNP	T	C	C			CHC1744T																					ENST00000360948.2:c.1440A>G	p.Pro480=	p.P480=	ENST00000360948	NM_001012338.2	480	ccA/ccG	0	not done		synonymous	
FLJ50766		inserm.fr	GRCh37	16	88632998	88632998	+	upstream_gene_variant	5'Flank	SNP	T	C	C			CHC1205T																								ENST00000301011	NM_144604.3			0	not done			
GOLM1		inserm.fr	GRCh37	9	88651420	88651420	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	C	C			BCM695T																					ENST00000388712.3:c.600C>G	p.Leu200=	p.L200=	ENST00000388712	NM_016548.3	200	ctC/ctG	0	validated		synonymous	
FOXI3		inserm.fr	GRCh37	2	88748123	88748123	+	non_coding_transcript_exon_variant	RNA	SNP	T	C	C			CHC1749T																					ENST00000398142.3:n.943A>G		*315*	ENST00000398142				0	not done		probablydamaging	
CTU2		inserm.fr	GRCh37	16	88780119	88780119	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1708T																					ENST00000453996.2:c.938A>C	p.Lys313Thr	p.K313T	ENST00000453996	NM_001012759.1	313	aAg/aCg	0	not done		probablydamaging	
APRT		inserm.fr	GRCh37	16	88876116	88876116	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC302T									Valid												ENST00000378364.3:c.533A>G	p.Gln178Arg	p.Q178R	ENST00000378364	NM_000485.2	178	cAg/cGg	0	validated		probablydamaging	
KITLG		inserm.fr	GRCh37	12	88900157	88900157	+	splice_acceptor_variant	Splice_Site	SNP	T	C	C			CHC432T																					ENST00000228280.5:c.715-2A>G		p.X239_splice	ENST00000228280	NM_000899.4			0	not done		damaging	
GALNS		inserm.fr	GRCh37	16	88904066	88904066	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1148T																					ENST00000268695.5:c.530A>G	p.Asn177Ser	p.N177S	ENST00000268695	NM_000512.4	177	aAc/aGc	0	not done		probablydamaging	
ZCCHC6		inserm.fr	GRCh37	9	88924865	88924865	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC322T									Valid												ENST00000375963.3:c.3446A>G	p.Tyr1149Cys	p.Y1149C	ENST00000375963	NM_001185059.1	1149	tAt/tGt	0	validated		probablydamaging	
MRPS11		inserm.fr	GRCh37	15	89011235	89011235	+	synonymous_variant	Silent	SNP	T	C	C			CHC121T																					ENST00000325844.4:c.162T>C	p.Ala54=	p.A54=	ENST00000325844	NM_022839.3	54	gcT/gcC	0	validated		synonymous	
ZC3H14		inserm.fr	GRCh37	14	89029499	89029499	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM567T																					ENST00000251038.5:c.22A>C	p.Ser8Arg	p.S8R	ENST00000251038	NM_024824.4	8	Agc/Cgc	0	validated		possiblydamaging	
EPHA3		inserm.fr	GRCh37	3	89391043	89391043	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000336596.2:c.1109T>C	p.Ile370Thr	p.I370T	ENST00000336596	NM_005233.5	370	aTa/aCa	0	not done		benign	
ACAN		inserm.fr	GRCh37	15	89400937	89400937	+	synonymous_variant	Silent	SNP	T	C	C			CHC1774T																					ENST00000439576.2:c.5121T>C	p.Ser1707=	p.S1707=	ENST00000439576	NM_013227.3	1707	agT/agC	0	validated		synonymous	
KIDINS220		inserm.fr	GRCh37	2	8940621	8940621	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1079T																					ENST00000256707.3:c.809A>G	p.Asp270Gly	p.D270G	ENST00000256707	NM_020738.2	270	gAt/gGt	0	not done		probablydamaging	
ACAN		inserm.fr	GRCh37	15	89415246	89415246	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM501T																					ENST00000439576.2:c.7118A>C	p.Asp2373Ala	p.D2373A	ENST00000439576	NM_013227.3	2373	gAc/gCc	0	validated		probablydamaging	
ATAD1		inserm.fr	GRCh37	10	89574351	89574351	+	synonymous_variant	Silent	SNP	T	C	C			BCM529T																					ENST00000308448.7:c.6A>G	p.Val2=	p.V2=	ENST00000308448	NM_032810.2	2	gtA/gtG	0	validated		synonymous	
GBP7		inserm.fr	GRCh37	1	89597834	89597834	+	stop_lost	Nonstop_Mutation	SNP	A	C	C			BCM325T																					ENST00000294671.2:c.1915T>G	p.Ter639GlyextTer5	p.*639Gext*5	ENST00000294671	NM_207398.2	639	Tga/Gga	0	validated			
R3HDM4		inserm.fr	GRCh37	19	897488	897488	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2216T																					ENST00000361574.5:c.756T>G	p.Asp252Glu	p.D252E	ENST00000361574	NM_138774.3	252	gaT/gaG	0	not done		probablydamaging	
SRSF12		inserm.fr	GRCh37	6	89808573	89808573	+	synonymous_variant	Silent	SNP	T	C	C			CHC1743T																					ENST00000452027.2:c.510A>G	p.Pro170=	p.P170=	ENST00000452027	NM_080743.4	170	ccA/ccG	0	not done		synonymous	
LYSMD3		inserm.fr	GRCh37	5	89820854	89820854	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC1154T																					ENST00000315948.6:c.253A>G	p.Thr85Ala	p.T85A	ENST00000315948	NM_198273.1	85	Acg/Gcg	0	not done		possiblydamaging	
C7orf63		inserm.fr	GRCh37	7	89874826	89874826	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1725T																					ENST00000389297.4:c.88G>C	p.Val30Leu	p.V30L	ENST00000389297	NM_001039706.2	30	Gtt/Ctt	0	not done		benign	
C7orf63		inserm.fr	GRCh37	7	89891316	89891316	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1604T																					ENST00000389297.4:c.302T>C	p.Ile101Thr	p.I101T	ENST00000389297	NM_001039706.2	101	aTa/aCa	0	not done		possiblydamaging	
NAALAD2		inserm.fr	GRCh37	11	89896201	89896201	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	C	C			CHC2052T																					ENST00000534061.1:c.1074T>C	p.Pro358=	p.P358=	ENST00000534061	NM_005467.3	358	ccT/ccC	0	not done		damaging	
RAD18		inserm.fr	GRCh37	3	8990238	8990238	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM671T																					ENST00000264926.2:c.150A>G	p.Ile50Met	p.I50M	ENST00000264926	NM_020165.3	50	atA/atG	0	validated		probablydamaging	
SPIRE2		inserm.fr	GRCh37	16	89924751	89924751	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC794T									Valid												ENST00000378247.3:c.1108G>C	p.Gly370Arg	p.G370R	ENST00000378247	NM_032451.1	370	Ggc/Cgc	0	validated		probablydamaging	
GPR98		inserm.fr	GRCh37	5	89948265	89948265	+	synonymous_variant	Silent	SNP	A	C	C			BCM371T																					ENST00000405460.2:c.3519A>C	p.Ser1173=	p.S1173=	ENST00000405460	NM_032119.3	1173	tcA/tcC	0	validated		synonymous	
GPR98		inserm.fr	GRCh37	5	89990479	89990479	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC736T									Valid												ENST00000405460.2:c.7906G>C	p.Asp2636His	p.D2636H	ENST00000405460	NM_032119.3	2636	Gat/Cat	0	validated		probablydamaging	
RHCG		inserm.fr	GRCh37	15	90020040	90020040	+	synonymous_variant	Silent	SNP	T	C	C			CHC796T																					ENST00000268122.4:c.1257A>G	p.Pro419=	p.P419=	ENST00000268122	NM_016321.1	419	ccA/ccG	0	validated		synonymous	
TIGD2		inserm.fr	GRCh37	4	90034899	90034899	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC923T																					ENST00000317005.2:c.774A>C	p.Glu258Asp	p.E258D	ENST00000317005	NM_145715.2	258	gaA/gaC	0	not done		benign	
GPR98		inserm.fr	GRCh37	5	90072286	90072286	+	synonymous_variant	Silent	SNP	T	C	C			CHC1725T																					ENST00000405460.2:c.12420T>C	p.Ile4140=	p.I4140=	ENST00000405460	NM_032119.3	4140	atT/atC	0	not done		synonymous	
GPR98		inserm.fr	GRCh37	5	90079728	90079728	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCB111T									Valid												ENST00000405460.2:c.13507A>C	p.Ser4503Arg	p.S4503R	ENST00000405460	NM_032119.3	4503	Agc/Cgc	0	validated		possiblydamaging	
NRIP3		inserm.fr	GRCh37	11	9009732	9009732	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM375T																					ENST00000309166.3:c.272T>G	p.Leu91Arg	p.L91R	ENST00000309166	NM_020645.2	91	cTc/cGc	0	validated		benign	
GPR98		inserm.fr	GRCh37	5	90136691	90136691	+	synonymous_variant	Silent	SNP	T	C	C			CHC1079T																					ENST00000405460.2:c.16908T>C	p.His5636=	p.H5636=	ENST00000405460	NM_032119.3	5636	caT/caC	0	not done		synonymous	
A2ML1		inserm.fr	GRCh37	12	9020527	9020527	+	synonymous_variant	Silent	SNP	T	C	C			BCM567T																					ENST00000299698.7:c.3807T>C	p.Thr1269=	p.T1269=	ENST00000299698	NM_144670.4	1269	acT/acC	0	validated		synonymous	
PEX11A		inserm.fr	GRCh37	15	90226665	90226665	+	synonymous_variant	Silent	SNP	G	C	C			CHC314T																					ENST00000300056.3:c.687C>G	p.Ser229=	p.S229=	ENST00000300056	NM_001271572.1	229	tcC/tcG	0	validated		synonymous	
WDR93		inserm.fr	GRCh37	15	90260173	90260173	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC155T									Valid												ENST00000268130.7:c.788T>C	p.Leu263Ser	p.L263S	ENST00000268130	NM_020212.1	263	tTa/tCa	0	validated		benign	
DAPK1		inserm.fr	GRCh37	9	90315132	90315132	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC794T																					ENST00000408954.3:c.2851A>C	p.Ile951Leu	p.I951L	ENST00000408954	NM_004938.2	951	Ata/Cta	0	validated		benign	
MDN1		inserm.fr	GRCh37	6	90421889	90421889	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC205T																					ENST00000369393.3:c.7517A>G	p.Asn2506Ser	p.N2506S	ENST00000369393		2506	aAt/aGt	0	validated		benign	
SCUBE2		inserm.fr	GRCh37	11	9043424	9043424	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC121T									Valid												ENST00000520467.1:c.2762A>G	p.Lys921Arg	p.K921R	ENST00000520467	NM_020974.2	921	aAg/aGg	0	validated		probablydamaging	
MUC16		inserm.fr	GRCh37	19	9046572	9046572	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC465T																					ENST00000397910.4:c.35059A>G	p.Met11687Val	p.M11687V	ENST00000397910	NM_024690.2	11687	Atg/Gtg	0	validated		benign	
MDN1		inserm.fr	GRCh37	6	90494780	90494780	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1629T																					ENST00000369393.3:c.1400A>G	p.Tyr467Cys	p.Y467C	ENST00000369393		467	tAt/tGt	0	not done		benign	
ANKRD22		inserm.fr	GRCh37	10	90588379	90588379	+	synonymous_variant	Silent	SNP	G	C	C			CHC1183T																					ENST00000371930.4:c.258C>G	p.Thr86=	p.T86=	ENST00000371930	NM_144590.2	86	acC/acG	0	not done		synonymous	
ZNF710		inserm.fr	GRCh37	15	90611070	90611070	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1085T																					ENST00000268154.4:c.701T>C	p.Met234Thr	p.M234T	ENST00000268154	NM_198526.2	234	aTg/aCg	0	validated		probablydamaging	
IDH2		inserm.fr	GRCh37	15	90631886	90631886	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1616T																					ENST00000330062.3:c.467A>G	p.Asn156Ser	p.N156S	ENST00000330062	NM_002168.2	156	aAc/aGc	0	not done		benign	
IDH2		inserm.fr	GRCh37	15	90634814	90634814	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC889T																					ENST00000330062.3:c.178C>G	p.Arg60Gly	p.R60G	ENST00000330062	NM_002168.2	60	Cgt/Ggt	0	not done		probablydamaging	
MUC16		inserm.fr	GRCh37	19	9068544	9068544	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1626T																					ENST00000397910.4:c.18902C>G	p.Thr6301Arg	p.T6301R	ENST00000397910	NM_024690.2	6301	aCa/aGa	0	not done		benign	
MUC16		inserm.fr	GRCh37	19	9073077	9073077	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC320T																					ENST00000397910.4:c.14369T>G	p.Val4790Gly	p.V4790G	ENST00000397910	NM_024690.2	4790	gTg/gGg	0	validated		possiblydamaging	
MUC16		inserm.fr	GRCh37	19	9073647	9073647	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC794T																					ENST00000397910.4:c.13799C>G	p.Thr4600Ser	p.T4600S	ENST00000397910	NM_024690.2	4600	aCt/aGt	0	validated		benign	
MUC16		inserm.fr	GRCh37	19	9077395	9077395	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC429T									Valid												ENST00000397910.4:c.10051A>G	p.Thr3351Ala	p.T3351A	ENST00000397910	NM_024690.2	3351	Act/Gct	0	not done		possiblydamaging	
MUC16		inserm.fr	GRCh37	19	9088801	9088801	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2206T																					ENST00000397910.4:c.3014C>G	p.Ala1005Gly	p.A1005G	ENST00000397910	NM_024690.2	1005	gCa/gGa	0	not done		possiblydamaging	
CALB1		inserm.fr	GRCh37	8	91078129	91078129	+	synonymous_variant	Silent	SNP	T	C	C			CHC789T																					ENST00000265431.3:c.447A>G	p.Leu149=	p.L149=	ENST00000265431	NM_004929.2	149	ctA/ctG	0	not done		synonymous	
CRTC3		inserm.fr	GRCh37	15	91169206	91169206	+	synonymous_variant	Silent	SNP	G	C	C			CHC1704T																					ENST00000268184.6:c.948G>C	p.Leu316=	p.L316=	ENST00000268184		316	ctG/ctC	0	not done		synonymous	
CCSER1		inserm.fr	GRCh37	4	91229454	91229454	+	synonymous_variant	Silent	SNP	A	C	C			CHC1209T																					ENST00000509176.1:c.19A>C	p.Arg7=	p.R7=	ENST00000509176	NM_001145065.1	7	Aga/Cga	0	not done		synonymous	
CCSER1		inserm.fr	GRCh37	4	91234085	91234085	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1192T																					ENST00000509176.1:c.1396G>C	p.Gly466Arg	p.G466R	ENST00000509176	NM_001145065.1	466	Ggc/Cgc	0	not done		probablydamaging	
MAP3K7		inserm.fr	GRCh37	6	91261830	91261830	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1568T																					ENST00000369329.3:c.805A>G	p.Lys269Glu	p.K269E	ENST00000369329	NM_145331.2	269	Aaa/Gaa	0	not done		benign	
RPS6KA5		inserm.fr	GRCh37	14	91340085	91340085	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2113T																					ENST00000261991.3:c.2051A>G	p.Asn684Ser	p.N684S	ENST00000261991	NM_004755.2	684	aAt/aGt	0	not done		benign	
BLM		inserm.fr	GRCh37	15	91346929	91346929	+	synonymous_variant	Silent	SNP	T	C	C			CHC304T																					ENST00000355112.3:c.3537T>C	p.Thr1179=	p.T1179=	ENST00000355112	NM_000057.2	1179	acT/acC	0	validated		synonymous	
PANK1		inserm.fr	GRCh37	10	91359243	91359243	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1749T																					ENST00000307534.4:c.1076A>G	p.His359Arg	p.H359R	ENST00000307534	NM_148977.2	359	cAt/cGt	0	not done		benign	
ZNF644		inserm.fr	GRCh37	1	91383647	91383647	+	synonymous_variant	Silent	SNP	T	C	C			CHC1152T																					ENST00000370440.1:c.3753A>G	p.Leu1251=	p.L1251=	ENST00000370440		1251	ttA/ttG	0	not done		synonymous	
EPYC		inserm.fr	GRCh37	12	91396245	91396245	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1148T																					ENST00000261172.3:c.98A>G	p.Tyr33Cys	p.Y33C	ENST00000261172	NM_004950.4	33	tAt/tGt	0	not done		probablydamaging	
RPS6KA5		inserm.fr	GRCh37	14	91444799	91444799	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1534T																					ENST00000261991.3:c.245T>G	p.Val82Gly	p.V82G	ENST00000261991	NM_004755.2	82	gTt/gGt	0	validated		probablydamaging	
KERA		inserm.fr	GRCh37	12	91449612	91449612	+	synonymous_variant	Silent	SNP	T	C	C			CHC1591T																					ENST00000266719.3:c.447A>G	p.Leu149=	p.L149=	ENST00000266719	NM_007035.3	149	ttA/ttG	0	not done		synonymous	
S1PR3		inserm.fr	GRCh37	9	91616645	91616645	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM501T																					ENST00000375846.3:c.530A>C	p.Asn177Thr	p.N177T	ENST00000375846		177	aAc/aCc	0	validated		probablydamaging	
TMEM64		inserm.fr	GRCh37	8	91657539	91657539	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC307T																					ENST00000458549.2:c.595A>G	p.Met199Val	p.M199V	ENST00000458549	NM_001008495.3	199	Atg/Gtg	0	validated		benign	
CCDC88C		inserm.fr	GRCh37	14	91739456	91739456	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1209T																					ENST00000389857.6:c.5600C>G	p.Ala1867Gly	p.A1867G	ENST00000389857	NM_001080414.3	1867	gCt/gGt	0	not done		benign	
LRRD1		inserm.fr	GRCh37	7	91793685	91793685	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM791T																					ENST00000458448.1:c.832A>G	p.Ser278Gly	p.S278G	ENST00000458448		278	Agt/Ggt	0	validated		benign	
HFM1		inserm.fr	GRCh37	1	91841205	91841205	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2052T																					ENST00000370425.3:c.1475A>G	p.Gln492Arg	p.Q492R	ENST00000370425	NM_001017975.3	492	cAg/cGg	0	not done		benign	
SMEK1		inserm.fr	GRCh37	14	91942277	91942277	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1741T																					ENST00000554684.1:c.1144A>G	p.Thr382Ala	p.T382A	ENST00000554684	NM_001284280.1	382	Act/Gct	0	not done		benign	
ANKIB1		inserm.fr	GRCh37	7	92019319	92019319	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC2206T																					ENST00000265742.3:c.1941A>C	p.Glu647Asp	p.E647D	ENST00000265742	NM_019004.1	647	gaA/gaC	0	not done		probablydamaging	
TMEM55A		inserm.fr	GRCh37	8	92033482	92033482	+	splice_donor_variant	Splice_Site	SNP	A	C	C			CHC1040T																					ENST00000285419.3:c.255+2T>G		p.X85_splice	ENST00000285419	NM_018710.2			0	not done		possiblydamaging	
TGFBR3		inserm.fr	GRCh37	1	92195374	92195374	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2216T																					ENST00000212355.4:c.725C>G	p.Ser242Cys	p.S242C	ENST00000212355	NM_001195683.1	242	tCt/tGt	0	not done		probablydamaging	
SLCO3A1		inserm.fr	GRCh37	15	92397215	92397215	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC889T																					ENST00000318445.6:c.77A>C	p.Asn26Thr	p.N26T	ENST00000318445	NM_013272.3	26	aAc/aCc	0	not done		probablydamaging	
TRIP11		inserm.fr	GRCh37	14	92470233	92470233	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1185T																					ENST00000267622.4:c.4087A>G	p.Ile1363Val	p.I1363V	ENST00000267622	NM_004239.3	1363	Att/Gtt	0	not done		probablydamaging	
TRIP11		inserm.fr	GRCh37	14	92471877	92471877	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC902T																					ENST00000267622.4:c.2443A>G	p.Ile815Val	p.I815V	ENST00000267622	NM_004239.3	815	Att/Gtt	0	not done		benign	
HTR7		inserm.fr	GRCh37	10	92508849	92508849	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM275T																					ENST00000336152.3:c.1042A>G	p.Thr348Ala	p.T348A	ENST00000336152	NM_019859.3	348	Aca/Gca	0	validated		probablydamaging	
A2M		inserm.fr	GRCh37	12	9251283	9251283	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC361TA									Valid												ENST00000318602.7:c.1771C>G	p.Pro591Ala	p.P591A	ENST00000318602	NM_000014.4	591	Cct/Gct	0	validated		possiblydamaging	
A2M		inserm.fr	GRCh37	12	9251284	9251284	+	synonymous_variant	Silent	SNP	A	C	C			CHC361TA																					ENST00000318602.7:c.1770T>G	p.Ala590=	p.A590=	ENST00000318602	NM_000014.4	590	gcT/gcG	0	validated		synonymous	
CCSER1		inserm.fr	GRCh37	4	92519871	92519871	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC2113T																					ENST00000509176.1:c.2366G>C	p.Cys789Ser	p.C789S	ENST00000509176	NM_001145065.1	789	tGt/tCt	0	not done		probablydamaging	
FAT3		inserm.fr	GRCh37	11	92531851	92531851	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1774T																					ENST00000298047.6:c.5672T>C	p.Ile1891Thr	p.I1891T	ENST00000298047		1891	aTc/aCc	0	validated		benign	
ANKRD12		inserm.fr	GRCh37	18	9254655	9254655	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC434T																					ENST00000262126.4:c.1390G>C	p.Gly464Arg	p.G464R	ENST00000262126	NM_015208.4	464	Ggt/Cgt	0	validated		benign	
A2M		inserm.fr	GRCh37	12	9256925	9256925	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC793T																					ENST00000318602.7:c.1176C>G	p.Asn392Lys	p.N392K	ENST00000318602	NM_000014.4	392	aaC/aaG	0	validated		benign	
SAMD9		inserm.fr	GRCh37	7	92732701	92732701	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC909T																					ENST00000379958.2:c.2710A>G	p.Ile904Val	p.I904V	ENST00000379958	NM_017654.3	904	Atc/Gtc	0	not done		possiblydamaging	
SAMD9L		inserm.fr	GRCh37	7	92761509	92761509	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB307T																					ENST00000318238.4:c.3776A>G	p.Asn1259Ser	p.N1259S	ENST00000318238	NM_152703.2	1259	aAt/aGt	0	validated		probablydamaging	
SAMD9L		inserm.fr	GRCh37	7	92763107	92763107	+	synonymous_variant	Silent	SNP	T	C	C			BCM671T																					ENST00000318238.4:c.2178A>G	p.Ala726=	p.A726=	ENST00000318238	NM_152703.2	726	gcA/gcG	0	validated		synonymous	
SAMD9L		inserm.fr	GRCh37	7	92764281	92764281	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1629T																					ENST00000318238.4:c.1004A>G	p.Gln335Arg	p.Q335R	ENST00000318238	NM_152703.2	335	cAa/cGa	0	not done		benign	
CLLU1		inserm.fr	GRCh37	12	92818587	92818587	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1545T																					ENST00000378485.1:c.131T>C	p.Ile44Thr	p.I44T	ENST00000378485	NM_001025233.1	44	aTa/aCa	0	not done			
HEPACAM2		inserm.fr	GRCh37	7	92825160	92825160	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC432T																					ENST00000394468.2:c.1256A>G	p.Asp419Gly	p.D419G	ENST00000394468	NM_001039372.1	419	gAt/gGt	0	not done		benign	
HEPACAM2		inserm.fr	GRCh37	7	92838107	92838107	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1616T																					ENST00000394468.2:c.798C>G	p.Ile266Met	p.I266M	ENST00000394468	NM_001039372.1	266	atC/atG	0	not done		possiblydamaging	
SLC36A4		inserm.fr	GRCh37	11	92916023	92916023	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC902T																					ENST00000326402.4:c.308C>G	p.Ser103Cys	p.S103C	ENST00000326402	NM_152313.2	103	tCt/tGt	0	not done		benign	
RUNX1T1		inserm.fr	GRCh37	8	93026994	93026994	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1041T																					ENST00000436581.2:c.314C>G	p.Pro105Arg	p.P105R	ENST00000436581		105	cCc/cGc	0	validated		probablydamaging	
C12orf74		inserm.fr	GRCh37	12	93100629	93100629	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC879T																					ENST00000397833.3:c.222G>C	p.Trp74Cys	p.W74C	ENST00000397833	NM_001178097.2	74	tgG/tgC	0	not done		probablydamaging	
CCDC67		inserm.fr	GRCh37	11	93104330	93104330	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1148T																					ENST00000298050.3:c.673T>C	p.Phe225Leu	p.F225L	ENST00000298050	NM_181645.3	225	Ttc/Ctc	0	not done		benign	
PZP		inserm.fr	GRCh37	12	9313033	9313033	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCM325T																					ENST00000261336.2:c.2926T>G	p.Tyr976Asp	p.Y976D	ENST00000261336	NM_002864.2	976	Tat/Gat	0	validated		probablydamaging	
CCDC67		inserm.fr	GRCh37	11	93170843	93170843	+	synonymous_variant	Silent	SNP	T	C	C			CHC1725T																					ENST00000298050.3:c.1773T>C	p.Thr591=	p.T591=	ENST00000298050	NM_181645.3	591	acT/acC	0	not done		synonymous	
FAM172A		inserm.fr	GRCh37	5	93217257	93217257	+	synonymous_variant	Silent	SNP	T	C	C			CHC433T																					ENST00000395965.3:c.705A>G	p.Lys235=	p.K235=	ENST00000395965	NM_032042.5	235	aaA/aaG	0	validated		synonymous	
OR7E24		inserm.fr	GRCh37	19	9362102	9362102	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1715T																					ENST00000456448.1:c.383T>C	p.Met128Thr	p.M128T	ENST00000456448	NM_001079935.1	128	aTg/aCg	0	not done		probablydamaging	
PROS1		inserm.fr	GRCh37	3	93624745	93624745	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2052T																					ENST00000394236.3:c.484A>G	p.Lys162Glu	p.K162E	ENST00000394236	NM_000313.3	162	Aaa/Gaa	0	not done		benign	
PLCB4		inserm.fr	GRCh37	20	9370557	9370557	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC301T									Valid												ENST00000378501.2:c.1190T>C	p.Phe397Ser	p.F397S	ENST00000378501	NM_000933.3	397	tTt/tCt	0	validated		probablydamaging	
GPR83		inserm.fr	GRCh37	11	94113422	94113422	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1700T																					ENST00000243673.2:c.1165A>G	p.Asn389Asp	p.N389D	ENST00000243673	NM_016540.3	389	Aat/Gat	0	not done		benign	
GRID2		inserm.fr	GRCh37	4	94128601	94128601	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2362T																					ENST00000282020.4:c.782T>C	p.Ile261Thr	p.I261T	ENST00000282020	NM_001510.2	261	aTa/aCa	0	validated		benign	
CASD1		inserm.fr	GRCh37	7	94183829	94183829	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC451T																					ENST00000297273.4:c.2069G>C	p.Gly690Ala	p.G690A	ENST00000297273	NM_022900.4	690	gGa/gCa	0	validated		probablydamaging	
MCTP1		inserm.fr	GRCh37	5	94207078	94207078	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB231T																					ENST00000515393.1:c.2081A>G	p.Asp694Gly	p.D694G	ENST00000515393	NM_024717.4	694	gAt/gGt	0	validated		probablydamaging	
IDE		inserm.fr	GRCh37	10	94247062	94247062	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1210T																					ENST00000265986.6:c.1547C>G	p.Ala516Gly	p.A516G	ENST00000265986	NM_004969.3	516	gCt/gGt	0	validated		possiblydamaging	
PLCB4		inserm.fr	GRCh37	20	9424884	9424884	+	synonymous_variant	Silent	SNP	T	C	C			CHC1704T																					ENST00000378501.2:c.2838T>C	p.His946=	p.H946=	ENST00000378501	NM_000933.3	946	caT/caC	0	not done		synonymous	
PEG10		inserm.fr	GRCh37	7	94294057	94294057	+	3_prime_UTR_variant	3'UTR	SNP	T	C	C			CHC1594T																					ENST00000482108.1:c.*211T>C		*71*	ENST00000482108	NM_001172437.1			0	not done		benign	
DNTTIP2		inserm.fr	GRCh37	1	94341923	94341923	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1601T																					ENST00000436063.2:c.1568A>G	p.Glu523Gly	p.E523G	ENST00000436063	NM_014597.4	523	gAa/gGa	0	not done		benign	
ASB2		inserm.fr	GRCh37	14	94405926	94405926	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC891T																					ENST00000555019.1:c.1145A>G	p.Asp382Gly	p.D382G	ENST00000555019	NM_001202429.1	382	gAc/gGc	0	not done		probablydamaging	
HHEX		inserm.fr	GRCh37	10	94450080	94450080	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1704T																					ENST00000282728.5:c.337G>C	p.Ala113Pro	p.A113P	ENST00000282728	NM_002729.4	113	Gcc/Ccc	0	not done		probablydamaging	
ABCA4		inserm.fr	GRCh37	1	94564364	94564364	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM723T																					ENST00000370225.3:c.754A>G	p.Lys252Glu	p.K252E	ENST00000370225	NM_000350.2	252	Aag/Gag	0	validated		probablydamaging	
PLXNC1		inserm.fr	GRCh37	12	94654484	94654484	+	synonymous_variant	Silent	SNP	A	C	C			CHC1182T																					ENST00000258526.4:c.3318A>C	p.Leu1106=	p.L1106=	ENST00000258526	NM_005761.2	1106	ctA/ctC	0	not done		synonymous	
PLXNC1		inserm.fr	GRCh37	12	94654557	94654557	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM723T																					ENST00000258526.4:c.3391T>C	p.Ser1131Pro	p.S1131P	ENST00000258526	NM_005761.2	1131	Tcc/Ccc	0	validated		probablydamaging	
RBM12B		inserm.fr	GRCh37	8	94746398	94746398	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC796T																					ENST00000399300.2:c.2241T>G	p.Phe747Leu	p.F747L	ENST00000399300	NM_203390.2	747	ttT/ttG	0	validated		benign	
RBM12B		inserm.fr	GRCh37	8	94747176	94747176	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCB167T																					ENST00000399300.2:c.1463C>G	p.Ser488Cys	p.S488C	ENST00000399300	NM_203390.2	488	tCt/tGt	0	validated		probablydamaging	
TMEM67		inserm.fr	GRCh37	8	94817074	94817074	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1180T																					ENST00000453321.3:c.2407G>C	p.Glu803Gln	p.E803Q	ENST00000453321	NM_153704.5	803	Gaa/Caa	0	validated		possiblydamaging	
SPTLC1		inserm.fr	GRCh37	9	94843162	94843162	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCB151T																					ENST00000262554.2:c.344C>G	p.Pro115Arg	p.P115R	ENST00000262554	NM_001281303.1	115	cCt/cGt	0	validated		benign	
SESN3		inserm.fr	GRCh37	11	94918567	94918567	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC432T																					ENST00000536441.1:c.615C>G	p.Ser205Arg	p.S205R	ENST00000536441	NM_144665.3	205	agC/agG	0	not done		probablydamaging	
WDR16		inserm.fr	GRCh37	17	9503398	9503398	+	synonymous_variant	Silent	SNP	T	C	C			CHC892T																					ENST00000352665.5:c.651T>C	p.Asp217=	p.D217=	ENST00000352665	NM_145054.4	217	gaT/gaC	0	not done		synonymous	
SERPINA5		inserm.fr	GRCh37	14	95057168	95057168	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T																					ENST00000329597.7:c.973A>C	p.Asn325His	p.N325H	ENST00000329597	NM_000624.5	325	Aac/Cac	0	validated		probablydamaging	
PDK4		inserm.fr	GRCh37	7	95216389	95216389	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1065T									Valid												ENST00000005178.5:c.1028A>G	p.Tyr343Cys	p.Y343C	ENST00000005178	NM_002612.3	343	tAc/tGc	0	validated		probablydamaging	
ASPN		inserm.fr	GRCh37	9	95219746	95219746	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1747T																					ENST00000375544.3:c.967T>G	p.Ser323Ala	p.S323A	ENST00000375544	NM_017680.4	323	Tca/Gca	0	not done		benign	
ASPN		inserm.fr	GRCh37	9	95232989	95232989	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1736T																					ENST00000375544.3:c.349A>G	p.Ile117Val	p.I117V	ENST00000375544	NM_017680.4	117	Atc/Gtc	0	not done		benign	
ECM2		inserm.fr	GRCh37	9	95256390	95256390	+	intron_variant	Intron	SNP	G	C	C			CHC121T									Valid												ENST00000375587.3:c.564+114249G>C		*188*	ENST00000375587	NM_001012267.1			0	validated		damaging	
GPR180		inserm.fr	GRCh37	13	95264469	95264469	+	synonymous_variant	Silent	SNP	T	C	C			CHC2099T																					ENST00000376958.4:c.330T>C	p.Asn110=	p.N110=	ENST00000376958	NM_180989.5	110	aaT/aaC	0	not done		synonymous	
ECM2		inserm.fr	GRCh37	9	95272301	95272301	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2111T																					ENST00000344604.5:c.1186A>G	p.Met396Val	p.M396V	ENST00000344604	NM_001393.3	396	Atg/Gtg	0	validated		probablydamaging	
CNN3		inserm.fr	GRCh37	1	95367726	95367726	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2215T																					ENST00000370206.4:c.335A>G	p.Asn112Ser	p.N112S	ENST00000370206	NM_001839.3	112	aAt/aGt	0	not done		benign	
FSBP		inserm.fr	GRCh37	8	95444638	95444638	+	synonymous_variant	Silent	SNP	T	C	C			CHC1601T																					ENST00000481490.2:c.621A>G	p.Pro207=	p.P207=	ENST00000481490	NM_001256141.1	207	ccA/ccG	0	not done		synonymous	
KIAA1429		inserm.fr	GRCh37	8	95524239	95524239	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM501T																					ENST00000297591.5:c.2830C>G	p.Pro944Ala	p.P944A	ENST00000297591	NM_015496.4	944	Cca/Gca	0	validated		probablydamaging	
DICER1		inserm.fr	GRCh37	14	95562837	95562837	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC614T																					ENST00000343455.3:c.4420A>G	p.Thr1474Ala	p.T1474A	ENST00000343455	NM_177438.2	1474	Acc/Gcc	0	validated		benign	
ESRP1		inserm.fr	GRCh37	8	95653655	95653655	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1732T																					ENST00000433389.2:c.109G>C	p.Val37Leu	p.V37L	ENST00000433389	NM_001034915.2	37	Gtc/Ctc	0	not done		benign	
VEZT		inserm.fr	GRCh37	12	95663853	95663853	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1591T																					ENST00000436874.1:c.737A>C	p.Lys246Thr	p.K246T	ENST00000436874	NM_017599.3	246	aAa/aCa	0	not done		probablydamaging	
SLC25A13		inserm.fr	GRCh37	7	95818689	95818689	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	C	C			CHC2115T																					ENST00000416240.2:c.850C>G	p.Arg284Gly	p.R284G	ENST00000416240	NM_014251.2	284	Cgt/Ggt	0	not done		possiblydamaging	
ZNF514		inserm.fr	GRCh37	2	95818972	95818972	+	synonymous_variant	Silent	SNP	T	C	C			BCB109T																					ENST00000295208.2:c.27A>G	p.Glu9=	p.E9=	ENST00000295208	NM_032788.1	9	gaA/gaG	0	validated		synonymous	
ABCC4		inserm.fr	GRCh37	13	95860107	95860107	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC796T									Valid												ENST00000376887.4:c.858A>G	p.Ile286Met	p.I286M	ENST00000376887	NM_005845.3	286	atA/atG	0	validated		possiblydamaging	
MANEA		inserm.fr	GRCh37	6	96052781	96052781	+	splice_donor_variant	Splice_Site	SNP	T	C	C			CHC1052T									Valid												ENST00000358812.4:c.731+2T>C		p.X244_splice	ENST00000358812	NM_024641.3			0	validated		damaging	
JRKL		inserm.fr	GRCh37	11	96124104	96124104	+	synonymous_variant	Silent	SNP	A	C	C			CHC1743T																					ENST00000458427.1:c.291A>C	p.Ile97=	p.I97=	ENST00000458427	NM_003772.3	97	atA/atC	0	not done		synonymous	
AMDHD1		inserm.fr	GRCh37	12	96337302	96337302	+	synonymous_variant	Silent	SNP	G	C	C			CHC1754T																					ENST00000266736.2:c.126G>C	p.Leu42=	p.L42=	ENST00000266736	NM_152435.2	42	ctG/ctC	0	not done		synonymous	
PHF2		inserm.fr	GRCh37	9	96411395	96411395	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC793T																					ENST00000359246.4:c.503A>C	p.Lys168Thr	p.K168T	ENST00000359246	NM_005392.3	168	aAg/aCg	0	validated		probablydamaging	
UGGT2		inserm.fr	GRCh37	13	96601670	96601670	+	synonymous_variant	Silent	SNP	T	C	C			CHC432T																					ENST00000376747.3:c.1374A>G	p.Thr458=	p.T458=	ENST00000376747	NM_020121.3	458	acA/acG	0	validated		synonymous	
HS6ST3		inserm.fr	GRCh37	13	96743139	96743139	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCB111T																					ENST00000376705.2:c.23G>C	p.Trp8Ser	p.W8S	ENST00000376705	NM_153456.3	8	tGg/tCg	0	validated		benign	
PDHA2		inserm.fr	GRCh37	4	96761318	96761318	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM337T																					ENST00000295266.4:c.17T>C	p.Ile6Thr	p.I6T	ENST00000295266	NM_005390.4	6	aTc/aCc	0	validated		benign	
STARD7		inserm.fr	GRCh37	2	96858897	96858897	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	C	C			CHC1207T																					ENST00000337288.5:c.662A>G	p.Tyr221Cys	p.Y221C	ENST00000337288	NM_020151.3	221	tAt/tGt	0	not done		probablydamaging	
NR2F2		inserm.fr	GRCh37	15	96877413	96877413	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC303T																					ENST00000394166.3:c.551T>C	p.Leu184Pro	p.L184P	ENST00000394166	NM_021005.3	184	cTg/cCg	0	validated		probablydamaging	
C12orf55		inserm.fr	GRCh37	12	96897735	96897735	+	synonymous_variant	Silent	SNP	T	C	C			CHC1097T																					ENST00000524981.4:c.495T>C	p.Asn165=	p.N165=	ENST00000524981		165	aaT/aaC	0	validated		synonymous	
C12orf55		inserm.fr	GRCh37	12	96941714	96941714	+	synonymous_variant	Silent	SNP	T	C	C			CHC2098T																					ENST00000524981.4:c.2112T>C	p.Pro704=	p.P704=	ENST00000524981		704	ccT/ccC	0	not done		synonymous	
EPHA6		inserm.fr	GRCh37	3	96945135	96945135	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC155T																					ENST00000389672.5:c.1142T>C	p.Phe381Ser	p.F381S	ENST00000389672	NM_001080448.2	381	tTt/tCt	0	validated		benign	
PDLIM1		inserm.fr	GRCh37	10	97031457	97031457	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC2029T																					ENST00000329399.6:c.181A>G	p.Met61Val	p.M61V	ENST00000329399	NM_020992.3	61	Atg/Gtg	0	not done		probablydamaging	
FAM22F		inserm.fr	GRCh37	9	97082748	97082748	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC614T																					ENST00000253262.4:c.1110C>G	p.Asn370Lys	p.N370K	ENST00000253262	NM_017561.1	370	aaC/aaG	0	validated		benign	
EPHA6		inserm.fr	GRCh37	3	97251304	97251304	+	missense_variant	Missense_Mutation	SNP	G	C	C			BCM275T									Valid												ENST00000389672.5:c.2303G>C	p.Arg768Thr	p.R768T	ENST00000389672	NM_001080448.2	768	aGa/aCa	0	validated		possiblydamaging	
KANSL3		inserm.fr	GRCh37	2	97274637	97274637	+	synonymous_variant	Silent	SNP	T	C	C			CHC1720T																					ENST00000431828.1:c.1548A>G	p.Pro516=	p.P516=	ENST00000431828		516	ccA/ccG	0	not done		synonymous	
KANSL3		inserm.fr	GRCh37	2	97278269	97278269	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1600T																					ENST00000431828.1:c.944A>G	p.Asn315Ser	p.N315S	ENST00000431828		315	aAt/aGt	0	not done		benign	
KANSL3		inserm.fr	GRCh37	2	97302800	97302800	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1595T																					ENST00000431828.1:c.73C>G	p.Leu25Val	p.L25V	ENST00000431828		25	Ctt/Gtt	0	validated		probablydamaging	
HS6ST3		inserm.fr	GRCh37	13	97485442	97485442	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1747T																					ENST00000376705.2:c.1406T>C	p.Val469Ala	p.V469A	ENST00000376705	NM_153456.3	469	gTg/gCg	0	not done		benign	
DPYD		inserm.fr	GRCh37	1	97544626	97544626	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC303T									Valid												ENST00000370192.3:c.2984T>G	p.Val995Gly	p.V995G	ENST00000370192	NM_000110.3	995	gTt/gGt	0	validated		probablydamaging	
FAM178B		inserm.fr	GRCh37	2	97626062	97626062	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1751T																					ENST00000490605.2:c.850C>G	p.Leu284Val	p.L284V	ENST00000490605		284	Ctg/Gtg	0	not done		possiblydamaging	
CRYBG3		inserm.fr	GRCh37	3	97662156	97662156	+	stop_lost	Nonstop_Mutation	SNP	T	C	C			CHC1720T																					ENST00000182096.4:c.3067T>C	p.Ter1023ArgextTer6	p.*1023Rext*6	ENST00000182096	NM_153605.3	1023	Tga/Cga	0	not done			
GABRR3		inserm.fr	GRCh37	3	97711733	97711733	+	downstream_gene_variant	3'Flank	SNP	G	C	C			CHC051T																								ENST00000470589				0	validated		probablydamaging	
GABRR3		inserm.fr	GRCh37	3	97753826	97753826	+	non_coding_transcript_exon_variant	RNA	SNP	G	C	C			CHC1211T																					ENST00000470589.1:n.123C>G		*41*	ENST00000470589				0	not done		synonymous	
TECPR1		inserm.fr	GRCh37	7	97847014	97847014	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1568T																					ENST00000447648.2:c.3374A>G	p.Tyr1125Cys	p.Y1125C	ENST00000447648	NM_015395.2	1125	tAc/tGc	0	not done		possiblydamaging	
OR5H15		inserm.fr	GRCh37	3	97887597	97887597	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1915T																					ENST00000356526.2:c.54A>C	p.Leu18Phe	p.L18F	ENST00000356526	NM_001005515.1	18	ttA/ttC	0	validated		benign	
OR5H15		inserm.fr	GRCh37	3	97887732	97887732	+	synonymous_variant	Silent	SNP	T	C	C			CHC1731T																					ENST00000356526.2:c.189T>C	p.Leu63=	p.L63=	ENST00000356526	NM_001005515.1	63	ctT/ctC	0	not done		synonymous	
OR5H2		inserm.fr	GRCh37	3	98002256	98002256	+	synonymous_variant	Silent	SNP	T	C	C			CHC1751T																					ENST00000355273.2:c.525T>C	p.Asn175=	p.N175=	ENST00000355273	NM_001005482.1	175	aaT/aaC	0	not done		synonymous	
OR5K4		inserm.fr	GRCh37	3	98073469	98073469	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1185T																					ENST00000354924.2:c.772T>C	p.Tyr258His	p.Y258H	ENST00000354924	NM_001005517.1	258	Tat/Cat	0	not done		probablydamaging	
GAS7		inserm.fr	GRCh37	17	9821334	9821334	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1624T																					ENST00000432992.2:c.1301A>G	p.Asp434Gly	p.D434G	ENST00000432992	NM_201433.1	434	gAc/gGc	0	validated		probablydamaging	
CHD1		inserm.fr	GRCh37	5	98216872	98216872	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1191T																					ENST00000284049.3:c.2968A>G	p.Met990Val	p.M990V	ENST00000284049	NM_001270.2	990	Atg/Gtg	0	not done		benign	
CLEC2D		inserm.fr	GRCh37	12	9845493	9845493	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC121T																					ENST00000261340.7:c.427T>C	p.Trp143Arg	p.W143R	ENST00000261340	NM_001004419.4	143	Tgg/Cgg	0	validated		probablydamaging	
ARRDC4		inserm.fr	GRCh37	15	98514365	98514365	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1715T																					ENST00000268042.6:c.1205A>C	p.Asp402Ala	p.D402A	ENST00000268042	NM_183376.2	402	gAc/gCc	0	not done		probablydamaging	
VWA3B		inserm.fr	GRCh37	2	98709565	98709565	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1598T																					ENST00000477737.1:c.10T>C	p.Ser4Pro	p.S4P	ENST00000477737	NM_144992.4	4	Tca/Cca	0	not done		benign	
TXNDC2		inserm.fr	GRCh37	18	9887746	9887746	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1186T																					ENST00000306084.6:c.1270G>C	p.Glu424Gln	p.E424Q	ENST00000306084	NM_001098529.1	424	Gaa/Caa	0	not done		probablydamaging	
WNK1		inserm.fr	GRCh37	12	989086	989086	+	synonymous_variant	Silent	SNP	A	C	C			CHC912T																					ENST00000315939.6:c.2721A>C	p.Pro907=	p.P907=	ENST00000315939	NM_018979.3	907	ccA/ccC	0	validated		synonymous	
ARPC1B		inserm.fr	GRCh37	7	98984368	98984368	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC433T									Valid												ENST00000451682.1:c.125G>C	p.Trp42Ser	p.W42S	ENST00000451682		42	tGg/tCg	0	validated		probablydamaging	
CPSF4		inserm.fr	GRCh37	7	99042442	99042442	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1743T																					ENST00000292476.5:c.134T>C	p.Leu45Ser	p.L45S	ENST00000292476		45	tTg/tCg	0	not done		benign	
APAF1		inserm.fr	GRCh37	12	99126338	99126338	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC1602T																					ENST00000551964.1:c.3741A>C	p.Leu1247Phe	p.L1247F	ENST00000551964	NM_181861.1	1247	ttA/ttC	0	not done		possiblydamaging	
RRP12		inserm.fr	GRCh37	10	99130483	99130483	+	missense_variant	Missense_Mutation	SNP	A	C	C			BCB325T									Valid												ENST00000370992.4:c.2573T>G	p.Leu858Arg	p.L858R	ENST00000370992	NM_015179.3	858	cTc/cGc	0	validated		probablydamaging	
LINC02914		inserm.fr	GRCh37	14	99182597	99182597	+	synonymous_variant	Silent	SNP	A	C	C			CHC1545T																					ENST00000325812.2:c.69A>C	p.Gly23=	p.G23=	ENST00000325812	NM_182560.2	23	ggA/ggC	0	not done		synonymous	
CYP3A5		inserm.fr	GRCh37	7	99250303	99250303	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1746T																					ENST00000222982.4:c.1126A>G	p.Thr376Ala	p.T376A	ENST00000222982	NM_000777.3	376	Act/Gct	0	not done		benign	
MMS19		inserm.fr	GRCh37	10	99258094	99258094	+	synonymous_variant	Silent	SNP	T	C	C			CHC469T																					ENST00000438925.2:c.48A>G	p.Leu16=	p.L16=	ENST00000438925	NM_022362.4	16	ctA/ctG	0	validated		synonymous	
POU3F2		inserm.fr	GRCh37	6	99283707	99283707	+	missense_variant	Missense_Mutation	SNP	A	C	C			CHC451T																					ENST00000328345.5:c.958A>C	p.Asn320His	p.N320H	ENST00000328345	NM_005604.3	320	Aac/Cac	0	validated		probablydamaging	
WNK1		inserm.fr	GRCh37	12	993294	993294	+	synonymous_variant	Silent	SNP	T	C	C			CHC798T																					ENST00000315939.6:c.3729T>C	p.Pro1243=	p.P1243=	ENST00000315939	NM_018979.3	1243	ccT/ccC	0	validated		synonymous	
PGPEP1L		inserm.fr	GRCh37	15	99511903	99511903	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC879T																					ENST00000378919.6:c.395A>G	p.Tyr132Cys	p.Y132C	ENST00000378919	NM_001102612.2	132	tAc/tGc	0	not done		probablydamaging	
ZNF510		inserm.fr	GRCh37	9	99525479	99525479	+	synonymous_variant	Silent	SNP	T	C	C			CHC2127T																					ENST00000375231.1:c.273A>G	p.Lys91=	p.K91=	ENST00000375231		91	aaA/aaG	0	not done		synonymous	
ZNF782		inserm.fr	GRCh37	9	99580785	99580785	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCM397T																					ENST00000481138.1:c.1520A>G	p.Lys507Arg	p.K507R	ENST00000481138	NM_001001662.1	507	aAa/aGa	0	validated		benign	
ZNF782		inserm.fr	GRCh37	9	99581268	99581268	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1594T																					ENST00000481138.1:c.1037C>G	p.Thr346Arg	p.T346R	ENST00000481138	NM_001001662.1	346	aCa/aGa	0	not done		benign	
TTC23		inserm.fr	GRCh37	15	99678309	99678309	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC097T																					ENST00000394132.2:c.1250C>G	p.Pro417Arg	p.P417R	ENST00000394132	NM_001288615.1	417	cCa/cGa	0	validated		benign	
CNPY4		inserm.fr	GRCh37	7	99720002	99720002	+	missense_variant	Missense_Mutation	SNP	G	C	C			CHC1028T																					ENST00000262932.3:c.239G>C	p.Ser80Thr	p.S80T	ENST00000262932	NM_152755.1	80	aGc/aCc	0	not done		probablydamaging	
LPPR4		inserm.fr	GRCh37	1	99762425	99762425	+	splice_donor_variant	Splice_Site	SNP	T	C	C			CHC326T																					ENST00000370185.3:c.538+2T>C		p.X180_splice	ENST00000370185	NM_014839.4			0	validated		damaging	
TTC23		inserm.fr	GRCh37	15	99768807	99768807	+	synonymous_variant	Silent	SNP	T	C	C			CHC2052T																					ENST00000394132.2:c.111A>G	p.Leu37=	p.L37=	ENST00000394132	NM_001288615.1	37	ctA/ctG	0	not done		synonymous	
MITD1		inserm.fr	GRCh37	2	99788094	99788094	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1624T																					ENST00000289359.2:c.269A>G	p.Lys90Arg	p.K90R	ENST00000289359	NM_138798.1	90	aAg/aGg	0	validated		benign	
EIF4E		inserm.fr	GRCh37	4	99808333	99808333	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC303T									Valid												ENST00000280892.6:c.356A>G	p.Glu119Gly	p.E119G	ENST00000280892	NM_001130678.1	119	gAg/gGg	0	validated		possiblydamaging	
PNISR		inserm.fr	GRCh37	6	99849294	99849294	+	missense_variant	Missense_Mutation	SNP	T	C	C			BCB109T									Valid												ENST00000369239.5:c.1540A>G	p.Ser514Gly	p.S514G	ENST00000369239	NM_032870.2	514	Agt/Ggt	0	validated		possiblydamaging	
STK3		inserm.fr	GRCh37	8	99895895	99895895	+	synonymous_variant	Silent	SNP	T	C	C			BCM683T																					ENST00000523601.1:c.90A>G	p.Gly30=	p.G30=	ENST00000523601	NM_001256312.1	30	ggA/ggG	0	validated		synonymous	
CCNC		inserm.fr	GRCh37	6	99993074	99993074	+	synonymous_variant	Silent	SNP	T	C	C			CHC303T																					ENST00000520429.1:c.711A>G	p.Leu237=	p.L237=	ENST00000520429	NM_005190.3	237	ctA/ctG	0	validated		synonymous	
CCNC		inserm.fr	GRCh37	6	99998157	99998157	+	missense_variant	Missense_Mutation	SNP	T	C	C			CHC1569T																					ENST00000520429.1:c.467A>G	p.Tyr156Cys	p.Y156C	ENST00000520429	NM_005190.3	156	tAt/tGt	0	not done		probablydamaging	
TBC1D23		inserm.fr	GRCh37	3	100002576	100002576	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1052T																					ENST00000394144.4:c.397A>G	p.Lys133Glu	p.K133E	ENST00000394144	NM_001199198.2	133	Aaa/Gaa	0	validated		benign	
EIF5B		inserm.fr	GRCh37	2	100015246	100015246	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC121T																					ENST00000289371.6:c.3429A>G	p.Ile1143Met	p.I1143M	ENST00000289371	NM_015904.3	1143	atA/atG	0	validated		benign	
C9orf174		inserm.fr	GRCh37	9	100092984	100092984	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1704T																					ENST00000375202.2:c.2341A>G	p.Lys781Glu	p.K781E	ENST00000375202		781	Aag/Gag	0	not done		benign	
C9orf174		inserm.fr	GRCh37	9	100139146	100139146	+	synonymous_variant	Silent	SNP	C	G	G			CHC2052T																					ENST00000375202.2:c.5076C>G	p.Ser1692=	p.S1692=	ENST00000375202		1692	tcC/tcG	0	not done		synonymous	
PALMD		inserm.fr	GRCh37	1	100152278	100152278	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC879T																					ENST00000263174.4:c.298T>G	p.Ser100Ala	p.S100A	ENST00000263174	NM_017734.4	100	Tca/Gca	0	not done		probablydamaging	
HPS1		inserm.fr	GRCh37	10	100183582	100183582	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC197T									Valid												ENST00000325103.6:c.1460T>C	p.Leu487Pro	p.L487P	ENST00000325103	NM_000195.3	487	cTg/cCg	0	validated		probablydamaging	
HPS1		inserm.fr	GRCh37	10	100183591	100183591	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC197T																					ENST00000325103.6:c.1451T>C	p.Leu484Pro	p.L484P	ENST00000325103	NM_000195.3	484	cTg/cCg	0	validated		possiblydamaging	
MEF2A		inserm.fr	GRCh37	15	100185929	100185929	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC361TA									Valid												ENST00000354410.5:c.218A>G	p.Asn73Ser	p.N73S	ENST00000354410	NM_005587.2	73	aAt/aGt	0	validated		possiblydamaging	
TDRD7		inserm.fr	GRCh37	9	100222930	100222930	+	synonymous_variant	Silent	SNP	T	G	G			CHC1137T																					ENST00000355295.4:c.1326T>G	p.Ala442=	p.A442=	ENST00000355295	NM_014290.2	442	gcT/gcG	0	not done		synonymous	
ADH1B		inserm.fr	GRCh37	4	100239943	100239943	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	G	G			CHC218T																					ENST00000305046.8:c.119A>C	p.Lys40Thr	p.K40T	ENST00000305046		40	aAg/aCg	0	validated		probablydamaging	
GPR128		inserm.fr	GRCh37	3	100328802	100328802	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC429T									Valid												ENST00000273352.3:c.102C>G	p.Ile34Met	p.I34M	ENST00000273352	NM_032787.2	34	atC/atG	0	validated		possiblydamaging	
AGL		inserm.fr	GRCh37	1	100350227	100350227	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM269T																					ENST00000294724.4:c.2649T>G	p.Asn883Lys	p.N883K	ENST00000294724	NM_000028.2	883	aaT/aaG	0	validated		benign	
MCHR2		inserm.fr	GRCh37	6	100368844	100368844	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1756T																					ENST00000281806.2:c.995T>C	p.Met332Thr	p.M332T	ENST00000281806	NM_001040179.1	332	aTg/aCg	0	not done		benign	
CENPI		inserm.fr	GRCh37	X	100416554	100416554	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1753T																					ENST00000372927.1:c.2132T>G	p.Ile711Ser	p.I711S	ENST00000372927	NM_006733.2	711	aTt/aGt	0	not done		probablydamaging	
SLC35A3		inserm.fr	GRCh37	1	100464865	100464865	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1207T																					ENST00000370155.3:c.236A>G	p.Asn79Ser	p.N79S	ENST00000370155	NM_012243.2	79	aAt/aGt	0	not done		benign	
DRP2		inserm.fr	GRCh37	X	100509877	100509877	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2128T																					ENST00000395209.3:c.2144C>G	p.Ala715Gly	p.A715G	ENST00000395209	NM_001939.2	715	gCc/gGc	0	not done		benign	
MUC12		inserm.fr	GRCh37	7	100634879	100634879	+	synonymous_variant	Silent	SNP	A	G	G			CHC2048T																					ENST00000536621.1:c.1035A>G	p.Pro345=	p.P345=	ENST00000536621	NM_001164462.1	345	ccA/ccG	0	not done		synonymous	
ZIC2		inserm.fr	GRCh37	13	100635295	100635295	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC302T									Valid												ENST00000376335.3:c.977T>G	p.Val326Gly	p.V326G	ENST00000376335	NM_007129.3	326	gTg/gGg	0	validated		probablydamaging	
HNRNPH2		inserm.fr	GRCh37	X	100667895	100667895	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC923T																					ENST00000316594.5:c.919A>G	p.Asn307Asp	p.N307D	ENST00000316594	NM_001199974.1	307	Aat/Gat	0	not done		benign	
MUC17		inserm.fr	GRCh37	7	100679324	100679324	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1055T																					ENST00000306151.4:c.4627A>G	p.Thr1543Ala	p.T1543A	ENST00000306151	NM_001040105.1	1543	Aca/Gca	0	validated		probablydamaging	
MUC17		inserm.fr	GRCh37	7	100681106	100681106	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC736T																					ENST00000306151.4:c.6409A>G	p.Thr2137Ala	p.T2137A	ENST00000306151	NM_001040105.1	2137	Act/Gct	0	validated		benign	
MUC17		inserm.fr	GRCh37	7	100683782	100683782	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1736T																					ENST00000306151.4:c.9085A>G	p.Thr3029Ala	p.T3029A	ENST00000306151	NM_001040105.1	3029	Aca/Gca	0	not done		possiblydamaging	
SCYL2		inserm.fr	GRCh37	12	100709362	100709362	+	synonymous_variant	Silent	SNP	T	G	G			CHC097T																					ENST00000360820.2:c.1122T>G	p.Pro374=	p.P374=	ENST00000360820	NM_017988.4	374	ccT/ccG	0	not done		synonymous	
TRIM56		inserm.fr	GRCh37	7	100731230	100731230	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1566T																					ENST00000306085.6:c.637A>G	p.Arg213Gly	p.R213G	ENST00000306085	NM_030961.1	213	Agg/Ggg	0	not done		possiblydamaging	
SCYL2		inserm.fr	GRCh37	12	100731279	100731279	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T																					ENST00000360820.2:c.2140A>G	p.Lys714Glu	p.K714E	ENST00000360820	NM_017988.4	714	Aaa/Gaa	0	validated		benign	
TRIM56		inserm.fr	GRCh37	7	100732135	100732135	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1626T																					ENST00000306085.6:c.1542T>G	p.Cys514Trp	p.C514W	ENST00000306085	NM_030961.1	514	tgT/tgG	0	not done		probablydamaging	
YY1		inserm.fr	GRCh37	14	100743917	100743917	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1061T									Valid												ENST00000262238.4:c.1225A>G	p.Lys409Glu	p.K409E	ENST00000262238	NM_003403.4	409	Aag/Gag	0	validated		probablydamaging	
NAT16		inserm.fr	GRCh37	7	100818016	100818016	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1568T																					ENST00000300303.2:c.73G>C	p.Ala25Pro	p.A25P	ENST00000300303	NM_198571.2	25	Gca/Cca	0	not done		probablydamaging	
TRIM14		inserm.fr	GRCh37	9	100854257	100854257	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1081T																					ENST00000341469.2:c.727T>C	p.Ser243Pro	p.S243P	ENST00000341469	NM_014788.2	243	Tcc/Ccc	0	validated		possiblydamaging	
TMEM133		inserm.fr	GRCh37	11	100863116	100863116	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1566T																					ENST00000303130.2:c.77A>G	p.Tyr26Cys	p.Y26C	ENST00000303130	NM_032021.2	26	tAt/tGt	0	not done		benign	
PCCA		inserm.fr	GRCh37	13	100955249	100955249	+	synonymous_variant	Silent	SNP	T	G	G			CHC1775T																					ENST00000376285.1:c.1281T>G	p.Pro427=	p.P427=	ENST00000376285	NM_000282.3	427	ccT/ccG	0	validated		synonymous	
CDC14A		inserm.fr	GRCh37	1	100983834	100983834	+	stop_lost	Nonstop_Mutation	SNP	T	G	G			CHC1594T																					ENST00000336454.3:c.1783T>G	p.Ter595GluextTer41	p.*595Eext*41	ENST00000336454	NM_003672.3	595	Taa/Gaa	0	not done			
PGR		inserm.fr	GRCh37	11	100999781	100999781	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1154T																					ENST00000325455.5:c.21G>C	p.Lys7Asn	p.K7N	ENST00000325455	NM_001202474.3	7	aaG/aaC	0	validated		probablydamaging	
GPR88		inserm.fr	GRCh37	1	101005132	101005132	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1715T																					ENST00000315033.4:c.610C>G	p.Gln204Glu	p.Q204E	ENST00000315033	NM_022049.2	204	Cag/Gag	0	not done		benign	
GAS2L3		inserm.fr	GRCh37	12	101018134	101018134	+	synonymous_variant	Silent	SNP	C	G	G			BCM265T																					ENST00000539410.1:c.1551C>G	p.Ser517=	p.S517=	ENST00000539410		517	tcC/tcG	0	validated		synonymous	
RGS22		inserm.fr	GRCh37	8	101020644	101020644	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2358T																					ENST00000360863.6:c.2320T>C	p.Trp774Arg	p.W774R	ENST00000360863	NM_015668.3	774	Tgg/Cgg	0	validated		probablydamaging	
SENP7		inserm.fr	GRCh37	3	101056419	101056419	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCB111T									Valid												ENST00000394095.2:c.2414G>C	p.Ser805Thr	p.S805T	ENST00000394095	NM_020654.3	805	aGt/aCt	0	validated		possiblydamaging	
LINS		inserm.fr	GRCh37	15	101114012	101114012	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1739T																					ENST00000314742.8:c.1066T>C	p.Tyr356His	p.Y356H	ENST00000314742	NM_001040616.2	356	Tat/Cat	0	not done		benign	
VCAM1		inserm.fr	GRCh37	1	101190326	101190326	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1040T																					ENST00000294728.2:c.808C>G	p.Leu270Val	p.L270V	ENST00000294728	NM_001078.3	270	Ctt/Gtt	0	not done		probablydamaging	
DLK1		inserm.fr	GRCh37	14	101193426	101193426	+	synonymous_variant	Silent	SNP	C	G	G			CHC1745T																					ENST00000341267.4:c.21C>G	p.Leu7=	p.L7=	ENST00000341267	NM_003836.5	7	ctC/ctG	0	not done		synonymous	
ZBTB11		inserm.fr	GRCh37	3	101390183	101390183	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM265T									Valid												ENST00000312938.4:c.569A>C	p.Lys190Thr	p.K190T	ENST00000312938	NM_014415.3	190	aAa/aCa	0	validated		possiblydamaging	
ZBTB11		inserm.fr	GRCh37	3	101395559	101395559	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2127T																					ENST00000312938.4:c.200A>C	p.Gln67Pro	p.Q67P	ENST00000312938	NM_014415.3	67	cAg/cCg	0	not done		probablydamaging	
SLC30A7		inserm.fr	GRCh37	1	101431431	101431431	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1545T																					ENST00000370112.4:c.1040A>G	p.Asp347Gly	p.D347G	ENST00000370112	NM_133496.4	347	gAt/gGt	0	not done		probablydamaging	
NXPE3		inserm.fr	GRCh37	3	101540341	101540341	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1083T																					ENST00000422132.1:c.1223A>G	p.His408Arg	p.H408R	ENST00000422132		408	cAt/cGt	0	validated		probablydamaging	
ABCC2		inserm.fr	GRCh37	10	101553691	101553691	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2113T																					ENST00000370449.4:c.511T>G	p.Ser171Ala	p.S171A	ENST00000370449	NM_000392.3	171	Tcc/Gcc	0	not done		possiblydamaging	
UTP20		inserm.fr	GRCh37	12	101679389	101679389	+	synonymous_variant	Silent	SNP	A	G	G			CHC433T																					ENST00000261637.4:c.168A>G	p.Arg56=	p.R56=	ENST00000261637	NM_014503.2	56	agA/agG	0	validated		synonymous	
UTP20		inserm.fr	GRCh37	12	101736814	101736814	+	synonymous_variant	Silent	SNP	A	G	G			CHC1629T																					ENST00000261637.4:c.4392A>G	p.Gln1464=	p.Q1464=	ENST00000261637	NM_014503.2	1464	caA/caG	0	not done		synonymous	
COL15A1		inserm.fr	GRCh37	9	101787169	101787169	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1211T																					ENST00000375001.3:c.1868C>G	p.Pro623Arg	p.P623R	ENST00000375001	NM_001855.4	623	cCc/cGc	0	not done		probablydamaging	
RNF149		inserm.fr	GRCh37	2	101898456	101898456	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2111T																					ENST00000295317.3:c.1024G>C	p.Ala342Pro	p.A342P	ENST00000295317	NM_173647.3	342	Gca/Cca	0	not done		benign	
KLF11		inserm.fr	GRCh37	2	10192572	10192572	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM671T																					ENST00000305883.1:c.1477A>G	p.Asn493Asp	p.N493D	ENST00000305883	NM_003597.4	493	Aac/Gac	0	validated		probablydamaging	
C11orf70		inserm.fr	GRCh37	11	101953874	101953874	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC313T																					ENST00000434758.2:c.748A>G	p.Ile250Val	p.I250V	ENST00000434758	NM_032930.2	250	Atc/Gtc	0	validated		benign	
GPRASP2		inserm.fr	GRCh37	X	101972196	101972196	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2200T																					ENST00000543253.1:c.2399A>G	p.Asp800Gly	p.D800G	ENST00000543253	NM_001184874.2	800	gAt/gGt	0	not done		probablydamaging	
C19orf66		inserm.fr	GRCh37	19	10197721	10197721	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC218T																					ENST00000253110.11:c.138C>G	p.Ile46Met	p.I46M	ENST00000253110	NM_018381.2	46	atC/atG	0	validated		probablydamaging	
NALCN		inserm.fr	GRCh37	13	102051476	102051476	+	start_lost	Translation_Start_Site	SNP	A	G	G			CHC1061T									Valid												ENST00000251127.6:c.2T>C	p.Met1?	p.M1?	ENST00000251127	NM_052867.2	1	aTg/aCg	0	validated		probablydamaging	
YAP1		inserm.fr	GRCh37	11	102056805	102056805	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM759T																					ENST00000282441.5:c.745A>G	p.Ile249Val	p.I249V	ENST00000282441	NM_001130145.2	249	Ata/Gta	0	validated		probablydamaging	
YAP1		inserm.fr	GRCh37	11	102100554	102100554	+	synonymous_variant	Silent	SNP	A	G	G			CHC1185T																					ENST00000282441.5:c.1398A>G	p.Glu466=	p.E466=	ENST00000282441	NM_001130145.2	466	gaA/gaG	0	not done		synonymous	
MYH13		inserm.fr	GRCh37	17	10210288	10210288	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC884T									Valid												ENST00000418404.3:c.5263G>C	p.Ala1755Pro	p.A1755P	ENST00000418404		1755	Gca/Cca	0	validated		probablydamaging	
CHPT1		inserm.fr	GRCh37	12	102117528	102117528	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC465T																					ENST00000229266.3:c.968A>G	p.Tyr323Cys	p.Y323C	ENST00000229266	NM_020244.2	323	tAt/tGt	0	validated		benign	
SYCP3		inserm.fr	GRCh37	12	102131673	102131673	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1065T																					ENST00000392927.3:c.41A>C	p.Lys14Thr	p.K14T	ENST00000392927	NM_001177948.1	14	aAg/aCg	0	validated		possiblydamaging	
GNPTAB		inserm.fr	GRCh37	12	102158996	102158996	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM375T									Valid												ENST00000299314.7:c.1699A>C	p.Ser567Arg	p.S567R	ENST00000299314	NM_024312.4	567	Agc/Cgc	0	validated		probablydamaging	
GNPTAB		inserm.fr	GRCh37	12	102179806	102179806	+	synonymous_variant	Silent	SNP	A	G	G			CHC2098T																					ENST00000299314.7:c.555T>C	p.Phe185=	p.F185=	ENST00000299314	NM_024312.4	185	ttT/ttC	0	not done		synonymous	
BIRC2		inserm.fr	GRCh37	11	102248780	102248780	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC306T									Valid												ENST00000227758.2:c.1723A>G	p.Met575Val	p.M575V	ENST00000227758	NM_001166.4	575	Atg/Gtg	0	validated		probablydamaging	
PAM		inserm.fr	GRCh37	5	102260700	102260700	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1182T																					ENST00000304400.7:c.396T>G	p.Ile132Met	p.I132M	ENST00000304400		132	atT/atG	0	not done		possiblydamaging	
OR4F6		inserm.fr	GRCh37	15	102346181	102346181	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2358T																					ENST00000328882.4:c.259A>G	p.Arg87Gly	p.R87G	ENST00000328882	NM_001005326.1	87	Agg/Ggg	0	validated		probablydamaging	
DYNC1H1		inserm.fr	GRCh37	14	102442087	102442087	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1717T																					ENST00000360184.4:c.295A>G	p.Ile99Val	p.I99V	ENST00000360184	NM_001376.4	99	Att/Gtt	0	not done		benign	
DYNC1H1		inserm.fr	GRCh37	14	102446135	102446135	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1756T																					ENST00000360184.4:c.598A>G	p.Ile200Val	p.I200V	ENST00000360184	NM_001376.4	200	Att/Gtt	0	not done		benign	
DYNC1H1		inserm.fr	GRCh37	14	102446204	102446204	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1185T																					ENST00000360184.4:c.667C>G	p.Arg223Gly	p.R223G	ENST00000360184	NM_001376.4	223	Cgt/Ggt	0	not done		benign	
DYNC1H1		inserm.fr	GRCh37	14	102453925	102453925	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1205T																					ENST00000360184.4:c.2674T>G	p.Ser892Ala	p.S892A	ENST00000360184	NM_001376.4	892	Tcc/Gcc	0	not done		benign	
BEX4		inserm.fr	GRCh37	X	102471187	102471187	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1763T																					ENST00000372695.5:c.106C>G	p.Arg36Gly	p.R36G	ENST00000372695	NM_001080425.3	36	Cgc/Ggc	0	not done		probablydamaging	
DYNC1H1		inserm.fr	GRCh37	14	102482760	102482760	+	synonymous_variant	Silent	SNP	A	G	G			CHC614T																					ENST00000360184.4:c.7548A>G	p.Glu2516=	p.E2516=	ENST00000360184	NM_001376.4	2516	gaA/gaG	0	validated		synonymous	
MYH13		inserm.fr	GRCh37	17	10248566	10248566	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1731T																					ENST00000418404.3:c.1537A>C	p.Ile513Leu	p.I513L	ENST00000418404		513	Att/Ctt	0	not done		probablydamaging	
DYNC1H1		inserm.fr	GRCh37	14	102494344	102494344	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC307T																					ENST00000360184.4:c.9334A>G	p.Lys3112Glu	p.K3112E	ENST00000360184	NM_001376.4	3112	Aag/Gag	0	validated		benign	
PARPBP		inserm.fr	GRCh37	12	102559607	102559607	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1598T																					ENST00000358383.5:c.767T>G	p.Phe256Cys	p.F256C	ENST00000358383		256	tTt/tGt	0	not done		probablydamaging	
MMP10		inserm.fr	GRCh37	11	102645969	102645969	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1065T									Valid												ENST00000279441.4:c.1016T>C	p.Leu339Ser	p.L339S	ENST00000279441	NM_002425.2	339	tTg/tCg	0	validated		probablydamaging	
MYH13		inserm.fr	GRCh37	17	10265701	10265701	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1207T																					ENST00000418404.3:c.324G>C	p.Glu108Asp	p.E108D	ENST00000418404		108	gaG/gaC	0	not done		benign	
SFXN3		inserm.fr	GRCh37	10	102797143	102797143	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2141T																					ENST00000224807.5:c.738C>G	p.Ile246Met	p.I246M	ENST00000224807	NM_030971.3	246	atC/atG	0	not done		possiblydamaging	
TECPR2		inserm.fr	GRCh37	14	102873700	102873700	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM265T									Valid												ENST00000359520.7:c.245T>G	p.Val82Gly	p.V82G	ENST00000359520	NM_014844.3	82	gTg/gGg	0	validated		probablydamaging	
TECPR2		inserm.fr	GRCh37	14	102904431	102904431	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM671T																					ENST00000359520.7:c.2467A>G	p.Ile823Val	p.I823V	ENST00000359520	NM_014844.3	823	Atc/Gtc	0	validated		benign	
BANK1		inserm.fr	GRCh37	4	102946562	102946562	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1040T																					ENST00000322953.4:c.1490A>G	p.Glu497Gly	p.E497G	ENST00000322953	NM_017935.4	497	gAa/gGa	0	not done		probablydamaging	
IL1RL1		inserm.fr	GRCh37	2	102959831	102959831	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC805T																					ENST00000233954.1:c.926A>G	p.His309Arg	p.H309R	ENST00000233954	NM_016232.4	309	cAt/cGt	0	not done		probablydamaging	
SLC26A5		inserm.fr	GRCh37	7	103014957	103014957	+	synonymous_variant	Silent	SNP	A	G	G			BCM321T																					ENST00000306312.3:c.2124T>C	p.Asp708=	p.D708=	ENST00000306312	NM_198999.2	708	gaT/gaC	0	validated		synonymous	
RELN		inserm.fr	GRCh37	7	103276763	103276763	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2115T																					ENST00000428762.1:c.2222T>C	p.Leu741Ser	p.L741S	ENST00000428762	NM_005045.3	741	tTg/tCg	0	not done		probablydamaging	
TPP2		inserm.fr	GRCh37	13	103279448	103279448	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC469T									Valid												ENST00000376065.4:c.871A>G	p.Ile291Val	p.I291V	ENST00000376065	NM_003291.2	291	Att/Gtt	0	validated		benign	
COL11A1		inserm.fr	GRCh37	1	103343581	103343581	+	synonymous_variant	Silent	SNP	A	G	G			BCM723T																					ENST00000370096.3:c.5415T>C	p.Leu1805=	p.L1805=	ENST00000370096	NM_001854.3	1805	ctT/ctC	0	validated		synonymous	
COL11A1		inserm.fr	GRCh37	1	103345459	103345459	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2128T																					ENST00000370096.3:c.5054A>C	p.Asp1685Ala	p.D1685A	ENST00000370096	NM_001854.3	1685	gAt/gCt	0	not done		probablydamaging	
CCDC168		inserm.fr	GRCh37	13	103386073	103386073	+	synonymous_variant	Silent	SNP	A	G	G			CHC2321T																					ENST00000322527.2:c.3087T>C	p.Asp1029=	p.D1029=	ENST00000322527	NM_001146197.1	1029	gaT/gaC	0	validated		synonymous	
AMN		inserm.fr	GRCh37	14	103389034	103389034	+	synonymous_variant	Silent	SNP	C	G	G			CHC302T																					ENST00000299155.5:c.9C>G	p.Val3=	p.V3=	ENST00000299155	NM_030943.3	3	gtC/gtG	0	validated		synonymous	
TMEM182		inserm.fr	GRCh37	2	103414444	103414444	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2141T																					ENST00000412401.2:c.454T>G	p.Ser152Ala	p.S152A	ENST00000412401	NM_144632.3	152	Tca/Gca	0	not done		benign	
NFKB1		inserm.fr	GRCh37	4	103488282	103488282	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2141T																					ENST00000226574.4:c.397A>G	p.Met133Val	p.M133V	ENST00000226574	NM_003998.3	133	Atg/Gtg	0	not done		probablydamaging	
ERCC5		inserm.fr	GRCh37	13	103504597	103504597	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1182T																					ENST00000355739.4:c.218T>G	p.Ile73Ser	p.I73S	ENST00000355739	NM_000123.3	73	aTt/aGt	0	not done		possiblydamaging	
COL11A1		inserm.fr	GRCh37	1	103544229	103544229	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM759T																					ENST00000370096.3:c.473A>C	p.Asn158Thr	p.N158T	ENST00000370096	NM_001854.3	158	aAc/aCc	0	validated		possiblydamaging	
EXOC3L4		inserm.fr	GRCh37	14	103574096	103574096	+	synonymous_variant	Silent	SNP	C	G	G			CHC1055T																					ENST00000380069.3:c.1830C>G	p.Ala610=	p.A610=	ENST00000380069	NM_001077594.1	610	gcC/gcG	0	validated		synonymous	
MRPL4		inserm.fr	GRCh37	19	10363287	10363287	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC059T									Valid												ENST00000253099.6:c.185T>G	p.Val62Gly	p.V62G	ENST00000253099	NM_146388.1	62	gTg/gGg	0	validated		possiblydamaging	
MANBA		inserm.fr	GRCh37	4	103645018	103645018	+	splice_donor_variant	Splice_Site	SNP	C	G	G			CHC2358T																					ENST00000226578.4:c.378+1G>C		p.X126_splice	ENST00000226578	NM_005908.3			0	validated		damaging	
MRPL4		inserm.fr	GRCh37	19	10365313	10365313	+	synonymous_variant	Silent	SNP	A	G	G			CHC307T																					ENST00000253099.6:c.324A>G	p.Arg108=	p.R108=	ENST00000253099	NM_146388.1	108	agA/agG	0	validated		synonymous	
C10orf76		inserm.fr	GRCh37	10	103753342	103753342	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1192T																					ENST00000370033.4:c.1228T>C	p.Phe410Leu	p.F410L	ENST00000370033	NM_024541.2	410	Ttt/Ctt	0	not done		benign	
PDGFD		inserm.fr	GRCh37	11	103780472	103780472	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC961T									Valid												ENST00000393158.2:c.1063G>C	p.Asp355His	p.D355H	ENST00000393158		355	Gat/Cat	0	validated		probablydamaging	
EIF5		inserm.fr	GRCh37	14	103805192	103805192	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC799T																					ENST00000216554.3:c.706A>G	p.Ile236Val	p.I236V	ENST00000216554	NM_001969.4	236	Att/Gtt	0	not done		benign	
HPS6		inserm.fr	GRCh37	10	103826550	103826550	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1742T																					ENST00000299238.5:c.1319C>G	p.Ser440Cys	p.S440C	ENST00000299238	NM_024747.5	440	tCc/tGc	0	not done		probablydamaging	
ATP2B2		inserm.fr	GRCh37	3	10392166	10392166	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC891T																					ENST00000360273.2:c.2232G>C	p.Lys744Asn	p.K744N	ENST00000360273	NM_001001331.2	744	aaG/aaC	0	not done		possiblydamaging	
CENPE		inserm.fr	GRCh37	4	104032051	104032051	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM501T																					ENST00000265148.3:c.7658A>C	p.Glu2553Ala	p.E2553A	ENST00000265148	NM_001813.2	2553	gAa/gCa	0	validated		probablydamaging	
CENPE		inserm.fr	GRCh37	4	104097154	104097154	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC892T																					ENST00000265148.3:c.1442A>C	p.Glu481Ala	p.E481A	ENST00000265148	NM_001813.2	481	gAg/gCg	0	not done		probablydamaging	
STAB2		inserm.fr	GRCh37	12	104107514	104107514	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC313T									Valid												ENST00000388887.2:c.4505C>G	p.Ala1502Gly	p.A1502G	ENST00000388887	NM_017564.9	1502	gCa/gGa	0	validated		possiblydamaging	
TMEM180		inserm.fr	GRCh37	10	104230633	104230633	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1201T																					ENST00000238936.4:c.463T>G	p.Ser155Ala	p.S155A	ENST00000238936	NM_024789.3	155	Tca/Gca	0	not done		probablydamaging	
RAVER1		inserm.fr	GRCh37	19	10429859	10429859	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1598T																					ENST00000293677.6:c.1879G>C	p.Gly627Arg	p.G627R	ENST00000293677	NM_133452.2	627	Gga/Cga	0	not done		benign	
MYH2		inserm.fr	GRCh37	17	10438634	10438634	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2034T																					ENST00000245503.5:c.2023T>C	p.Phe675Leu	p.F675L	ENST00000245503	NM_017534.5	675	Ttt/Ctt	0	not done		possiblydamaging	
IL1RAPL2		inserm.fr	GRCh37	X	104440304	104440304	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1745T																					ENST00000372582.1:c.230A>G	p.Tyr77Cys	p.Y77C	ENST00000372582	NM_017416.1	77	tAc/tGc	0	not done		probablydamaging	
TDRD9		inserm.fr	GRCh37	14	104473147	104473147	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC302T																					ENST00000409874.4:c.1972A>G	p.Lys658Glu	p.K658E	ENST00000409874	NM_153046.2	658	Aag/Gag	0	validated		benign	
SFXN2		inserm.fr	GRCh37	10	104491503	104491503	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC301T									Valid												ENST00000369893.5:c.617T>G	p.Val206Gly	p.V206G	ENST00000369893	NM_178858.4	206	gTg/gGg	0	validated		probablydamaging	
TXNRD1		inserm.fr	GRCh37	12	104682728	104682728	+	synonymous_variant	Silent	SNP	A	G	G			CHC2098T																					ENST00000525566.1:c.324A>G	p.Glu108=	p.E108=	ENST00000525566	NM_001093771.2	108	gaA/gaG	0	not done		synonymous	
MLL5		inserm.fr	GRCh37	7	104752415	104752415	+	synonymous_variant	Silent	SNP	A	G	G			CHC1148T																					ENST00000311117.3:c.4212A>G	p.Leu1404=	p.L1404=	ENST00000311117	NM_182931.2	1404	ctA/ctG	0	not done		synonymous	
CASP5		inserm.fr	GRCh37	11	104872924	104872924	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC909T																					ENST00000393141.2:c.587A>C	p.Tyr196Ser	p.Y196S	ENST00000393141	NM_004347.3	196	tAt/tCt	0	not done		probablydamaging	
RIMS2		inserm.fr	GRCh37	8	104928733	104928733	+	synonymous_variant	Silent	SNP	A	G	G			CHC121T																					ENST00000406091.3:c.2004A>G	p.Pro668=	p.P668=	ENST00000406091	NM_001100117.2	668	ccA/ccG	0	validated		synonymous	
PUS7		inserm.fr	GRCh37	7	105122857	105122857	+	synonymous_variant	Silent	SNP	A	G	G			CHC736T																					ENST00000356362.2:c.951T>C	p.Asn317=	p.N317=	ENST00000356362	NM_019042.3	317	aaT/aaC	0	validated		synonymous	
TAF5		inserm.fr	GRCh37	10	105147776	105147776	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1763T																					ENST00000369839.3:c.2199T>G	p.Asn733Lys	p.N733K	ENST00000369839	NM_006951.3	733	aaT/aaG	0	not done		probablydamaging	
RINT1		inserm.fr	GRCh37	7	105187512	105187512	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1566T																					ENST00000257700.2:c.671T>G	p.Leu224Arg	p.L224R	ENST00000257700	NM_021930.4	224	cTc/cGc	0	not done		probablydamaging	
PDE4A		inserm.fr	GRCh37	19	10528346	10528346	+	upstream_gene_variant	5'Flank	SNP	A	G	G			BCM371T																								ENST00000352831	NM_001111307.1			0	validated			
CXXC4		inserm.fr	GRCh37	4	105412927	105412927	+	synonymous_variant	Silent	SNP	C	G	G			CHC1192T																					ENST00000394767.2:c.33G>C	p.Pro11=	p.P11=	ENST00000394767	NM_025212.2	11	ccG/ccC	0	not done		synonymous	
AHNAK2		inserm.fr	GRCh37	14	105415607	105415607	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1714T																					ENST00000333244.5:c.6181G>C	p.Val2061Leu	p.V2061L	ENST00000333244	NM_138420.2	2061	Gtg/Ctg	0	not done		possiblydamaging	
MYH3		inserm.fr	GRCh37	17	10541677	10541677	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM339T																					ENST00000583535.1:c.3412A>C	p.Ser1138Arg	p.S1138R	ENST00000583535	NM_002470.3	1138	Agc/Cgc	0	validated		possiblydamaging	
MUM1L1		inserm.fr	GRCh37	X	105450529	105450529	+	synonymous_variant	Silent	SNP	A	G	G			CHC1081T																					ENST00000337685.2:c.1104A>G	p.Leu368=	p.L368=	ENST00000337685	NM_152423.4	368	ctA/ctG	0	validated		synonymous	
KIAA1033		inserm.fr	GRCh37	12	105540899	105540899	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1741T																					ENST00000332180.5:c.2489A>G	p.His830Arg	p.H830R	ENST00000332180	NM_015275.1	830	cAt/cGt	0	not done		probablydamaging	
KIAA1033		inserm.fr	GRCh37	12	105543395	105543395	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	G	G			BCM529T																					ENST00000332180.5:c.2517T>G	p.Val839=	p.V839=	ENST00000332180	NM_015275.1	839	gtT/gtG	0	validated		synonymous	
KIAA1033		inserm.fr	GRCh37	12	105543430	105543430	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC304T																					ENST00000332180.5:c.2552A>G	p.Tyr851Cys	p.Y851C	ENST00000332180	NM_015275.1	851	tAt/tGt	0	validated		probablydamaging	
KIAA1033		inserm.fr	GRCh37	12	105543432	105543432	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1611T																					ENST00000332180.5:c.2554A>G	p.Ile852Val	p.I852V	ENST00000332180	NM_015275.1	852	Ata/Gta	0	not done		benign	
DMRT2		inserm.fr	GRCh37	9	1056809	1056809	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1616T																					ENST00000382251.3:c.1222C>G	p.Pro408Ala	p.P408A	ENST00000382251		408	Cct/Gct	0	not done		benign	
GRIA4		inserm.fr	GRCh37	11	105797648	105797648	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2128T																					ENST00000282499.5:c.2029A>G	p.Thr677Ala	p.T677A	ENST00000282499	NM_000829.3	677	Aca/Gca	0	not done		probablydamaging	
PACS2		inserm.fr	GRCh37	14	105849233	105849233	+	synonymous_variant	Silent	SNP	C	G	G			CHC432T																					ENST00000458164.2:c.1608C>G	p.Val536=	p.V536=	ENST00000458164	NM_001100913.2	536	gtC/gtG	0	not done		synonymous	
C14orf80		inserm.fr	GRCh37	14	105958034	105958034	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2213T																					ENST00000392522.3:c.223C>G	p.Leu75Val	p.L75V	ENST00000392522	NM_001134875.1	75	Ctg/Gtg	0	validated		benign	
C14orf80		inserm.fr	GRCh37	14	105958611	105958611	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1595T																					ENST00000392522.3:c.394C>G	p.Arg132Gly	p.R132G	ENST00000392522	NM_001134875.1	132	Cga/Gga	0	validated		probablydamaging	
KEAP1		inserm.fr	GRCh37	19	10597400	10597400	+	synonymous_variant	Silent	SNP	C	G	G			CHC1205T									Valid												ENST00000171111.5:c.1803G>C	p.Arg601=	p.R601=	ENST00000171111	NM_203500.1	601	cgG/cgC	0	validated		synonymous	
SLX4IP		inserm.fr	GRCh37	20	10602051	10602051	+	synonymous_variant	Silent	SNP	T	G	G			CHC2098T																					ENST00000334534.5:c.495T>G	p.Ala165=	p.A165=	ENST00000334534	NM_001009608.1	165	gcT/gcG	0	not done		synonymous	
TBC1D8B		inserm.fr	GRCh37	X	106069340	106069340	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC703T																					ENST00000357242.5:c.908A>G	p.His303Arg	p.H303R	ENST00000357242	NM_017752.2	303	cAt/cGt	0	validated		probablydamaging	
ITPRIP		inserm.fr	GRCh37	10	106075076	106075076	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC614T									Valid												ENST00000278071.2:c.734T>C	p.Val245Ala	p.V245A	ENST00000278071	NM_033397.3	245	gTg/gCg	0	validated		possiblydamaging	
TBC1D8B		inserm.fr	GRCh37	X	106116943	106116943	+	synonymous_variant	Silent	SNP	A	G	G			CHC303T																					ENST00000357242.5:c.3111A>G	p.Thr1037=	p.T1037=	ENST00000357242	NM_017752.2	1037	acA/acG	0	validated		synonymous	
TET2		inserm.fr	GRCh37	4	106155848	106155848	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2112T																					ENST00000380013.4:c.749A>G	p.Asn250Ser	p.N250S	ENST00000380013	NM_001127208.2	250	aAt/aGt	0	not done		benign	
CCDC147		inserm.fr	GRCh37	10	106207470	106207470	+	synonymous_variant	Silent	SNP	C	G	G			CHC2208T																					ENST00000369704.3:c.2271C>G	p.Leu757=	p.L757=	ENST00000369704	NM_001008723.1	757	ctC/ctG	0	not done		synonymous	
GCNT6		inserm.fr	GRCh37	6	10634567	10634567	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCB301T																					ENST00000417671.1:c.575C>G	p.Thr192Ser	p.T192S	ENST00000417671		192	aCt/aGt	0	validated			
ZFPM2		inserm.fr	GRCh37	8	106815608	106815608	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC917T																					ENST00000407775.2:c.3298C>G	p.Gln1100Glu	p.Q1100E	ENST00000407775	NM_012082.3	1100	Cag/Gag	0	validated		benign	
CASZ1		inserm.fr	GRCh37	1	10703248	10703248	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000377022.3:c.3989G>C	p.Gly1330Ala	p.G1330A	ENST00000377022	NM_001079843.2	1330	gGg/gCg	0	not done		probablydamaging	
DUS4L		inserm.fr	GRCh37	7	107207543	107207543	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1044T																					ENST00000265720.3:c.28A>G	p.Ile10Val	p.I10V	ENST00000265720	NM_001270419.1	10	Ata/Gta	0	not done		benign	
CWF19L2		inserm.fr	GRCh37	11	107260880	107260880	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1185T																					ENST00000282251.5:c.1792A>C	p.Ser598Arg	p.S598R	ENST00000282251	NM_152434.2	598	Agc/Cgc	0	not done		probablydamaging	
OR13F1		inserm.fr	GRCh37	9	107267141	107267141	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1137T																					ENST00000334726.2:c.598C>G	p.Leu200Val	p.L200V	ENST00000334726	NM_001004485.1	200	Ctg/Gtg	0	not done		probablydamaging	
RP11-778D12.2		inserm.fr	GRCh37	8	107277793	107277793	+	non_coding_transcript_exon_variant	RNA	SNP	A	G	G			CHC1743T																					ENST00000517318.1:n.359T>C		*120*	ENST00000517318				0	not done		synonymous	
CWF19L2		inserm.fr	GRCh37	11	107288951	107288951	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2321T																					ENST00000282251.5:c.1496A>C	p.Lys499Thr	p.K499T	ENST00000282251	NM_152434.2	499	aAg/aCg	0	validated		probablydamaging	
TMEM14C		inserm.fr	GRCh37	6	10730878	10730878	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC794T																					ENST00000541412.1:c.318T>G	p.Ser106Arg	p.S106R	ENST00000541412	NM_001165258.1	106	agT/agG	0	validated		benign	
DLD		inserm.fr	GRCh37	7	107545914	107545914	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM337T																					ENST00000205402.5:c.547A>G	p.Thr183Ala	p.T183A	ENST00000205402	NM_000108.3	183	Acg/Gcg	0	validated		benign	
LAMB1		inserm.fr	GRCh37	7	107600995	107600995	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1751T																					ENST00000222399.6:c.2209T>C	p.Tyr737His	p.Y737H	ENST00000222399	NM_002291.2	737	Tac/Cac	0	not done		probablydamaging	
LAMB1		inserm.fr	GRCh37	7	107616179	107616179	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC314T																					ENST00000222399.6:c.1144T>C	p.Tyr382His	p.Y382H	ENST00000222399	NM_002291.2	382	Tac/Cac	0	validated		benign	
FBXL17		inserm.fr	GRCh37	5	107684116	107684116	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC320T									Valid												ENST00000542267.1:c.1490T>C	p.Met497Thr	p.M497T	ENST00000542267	NM_001163315.2	497	aTg/aCg	0	validated		probablydamaging	
LAMB4		inserm.fr	GRCh37	7	107706943	107706943	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC361TA									Valid												ENST00000388781.3:c.2549G>C	p.Cys850Ser	p.C850S	ENST00000388781	NM_007356.2	850	tGc/tCc	0	validated		benign	
OXR1		inserm.fr	GRCh37	8	107718616	107718616	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC917T																					ENST00000442977.2:c.870A>G	p.Ile290Met	p.I290M	ENST00000442977	NM_001198532.1	290	atA/atG	0	validated		possiblydamaging	
LAMB4		inserm.fr	GRCh37	7	107732799	107732799	+	synonymous_variant	Silent	SNP	T	G	G			BCM337T																					ENST00000388781.3:c.1533A>C	p.Gly511=	p.G511=	ENST00000388781	NM_007356.2	511	ggA/ggC	0	validated		synonymous	
OXR1		inserm.fr	GRCh37	8	107754530	107754530	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC798T																					ENST00000442977.2:c.2400C>G	p.Phe800Leu	p.F800L	ENST00000442977	NM_001198532.1	800	ttC/ttG	0	validated		possiblydamaging	
CUL5		inserm.fr	GRCh37	11	107904574	107904574	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1775T																					ENST00000393094.2:c.71C>G	p.Pro24Arg	p.P24R	ENST00000393094	NM_003478.3	24	cCg/cGg	0	validated		probablydamaging	
COL4A5		inserm.fr	GRCh37	X	107923942	107923942	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1708T																					ENST00000328300.6:c.3976A>G	p.Lys1326Glu	p.K1326E	ENST00000328300	NM_033380.2	1326	Aaa/Gaa	0	not done		probablydamaging	
CUL5		inserm.fr	GRCh37	11	107943181	107943181	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1040T																					ENST00000393094.2:c.997A>G	p.Ile333Val	p.I333V	ENST00000393094	NM_003478.3	333	Att/Gtt	0	not done		possiblydamaging	
NPAT		inserm.fr	GRCh37	11	108043422	108043422	+	synonymous_variant	Silent	SNP	A	G	G			CHC303T																					ENST00000278612.8:c.2289T>C	p.Ile763=	p.I763=	ENST00000278612	NM_002519.2	763	atT/atC	0	validated		synonymous	
MYH15		inserm.fr	GRCh37	3	108107851	108107851	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1568T																					ENST00000273353.3:c.5561G>C	p.Arg1854Thr	p.R1854T	ENST00000273353	NM_014981.1	1854	aGa/aCa	0	not done		possiblydamaging	
ATM		inserm.fr	GRCh37	11	108117736	108117736	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC314T									Valid												ENST00000278616.4:c.947A>G	p.Tyr316Cys	p.Y316C	ENST00000278616	NM_000051.3	316	tAt/tGt	0	validated		probablydamaging	
SLC44A1		inserm.fr	GRCh37	9	108123512	108123512	+	synonymous_variant	Silent	SNP	A	G	G			CHC1192T																					ENST00000374720.3:c.801A>G	p.Arg267=	p.R267=	ENST00000374720	NM_080546.3	267	agA/agG	0	not done		synonymous	
ATM		inserm.fr	GRCh37	11	108190769	108190769	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1603T																					ENST00000278616.4:c.6436A>G	p.Ser2146Gly	p.S2146G	ENST00000278616	NM_000051.3	2146	Agt/Ggt	0	not done		benign	
VAV3		inserm.fr	GRCh37	1	108298049	108298049	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			BCB307T									Valid												ENST00000370056.4:c.1173G>C	p.Leu391Phe	p.L391F	ENST00000370056	NM_006113.4	391	ttG/ttC	0	validated		possiblydamaging	
C11orf65		inserm.fr	GRCh37	11	108332215	108332215	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC794T																					ENST00000393084.1:c.72A>C	p.Lys24Asn	p.K24N	ENST00000393084	NM_152587.3	24	aaA/aaC	0	validated		possiblydamaging	
SORCS1		inserm.fr	GRCh37	10	108439041	108439041	+	synonymous_variant	Silent	SNP	A	G	G			CHC1754T																					ENST00000344440.6:c.1713T>C	p.Ser571=	p.S571=	ENST00000344440	NM_001206571.1	571	tcT/tcC	0	not done		synonymous	
MUC2		inserm.fr	GRCh37	11	1085818	1085818	+	synonymous_variant	Silent	SNP	C	G	G			CHC1154T																					ENST00000441003.2:c.2739C>G	p.Gly913=	p.G913=	ENST00000441003	NM_002457.2	913	ggC/ggG	0	not done		synonymous	
DDX10		inserm.fr	GRCh37	11	108590537	108590537	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM683T																					ENST00000322536.3:c.1424A>G	p.Tyr475Cys	p.Y475C	ENST00000322536	NM_004398.2	475	tAt/tGt	0	validated		probablydamaging	
ACSL4		inserm.fr	GRCh37	X	108902700	108902700	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1209T																					ENST00000340800.2:c.1861A>C	p.Lys621Gln	p.K621Q	ENST00000340800	NM_022977.2	621	Aaa/Caa	0	not done		probablydamaging	
SULT1C2		inserm.fr	GRCh37	2	108922022	108922022	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC799T																					ENST00000326853.5:c.782A>G	p.Asp261Gly	p.D261G	ENST00000326853	NM_176825.2	261	gAc/gGc	0	not done		probablydamaging	
TNFSF13B		inserm.fr	GRCh37	13	108955680	108955680	+	synonymous_variant	Silent	SNP	C	G	G			CHC1035T																					ENST00000375887.4:c.561C>G	p.Val187=	p.V187=	ENST00000375887	NM_006573.4	187	gtC/gtG	0	validated		synonymous	
GCC2		inserm.fr	GRCh37	2	109086660	109086660	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM265T																					ENST00000309863.6:c.875A>G	p.Gln292Arg	p.Q292R	ENST00000309863	NM_181453.3	292	cAg/cGg	0	validated		benign	
GCC2		inserm.fr	GRCh37	2	109087869	109087869	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1052T																					ENST00000309863.6:c.2084A>G	p.Asn695Ser	p.N695S	ENST00000309863	NM_181453.3	695	aAt/aGt	0	validated		benign	
STXBP3		inserm.fr	GRCh37	1	109321967	109321967	+	synonymous_variant	Silent	SNP	C	G	G			CHC1600T																					ENST00000370008.3:c.744C>G	p.Val248=	p.V248=	ENST00000370008	NM_007269.2	248	gtC/gtG	0	not done		synonymous	
RANBP2		inserm.fr	GRCh37	2	109380420	109380420	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1041T																					ENST00000283195.6:c.3425T>G	p.Phe1142Cys	p.F1142C	ENST00000283195	NM_006267.4	1142	tTt/tGt	0	validated		probablydamaging	
RANBP2		inserm.fr	GRCh37	2	109400202	109400202	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM325T																					ENST00000283195.6:c.9520A>G	p.Ile3174Val	p.I3174V	ENST00000283195	NM_006267.4	3174	Ata/Gta	0	validated		probablydamaging	
SESN1		inserm.fr	GRCh37	6	109415157	109415157	+	synonymous_variant	Silent	SNP	A	G	G			CHC1597T																					ENST00000436639.2:c.120T>C	p.Arg40=	p.R40=	ENST00000436639	NM_014454.2	40	cgT/cgC	0	not done		synonymous	
ALKBH2		inserm.fr	GRCh37	12	109526120	109526120	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC432T																					ENST00000429722.2:c.677T>C	p.Met226Thr	p.M226T	ENST00000429722	NM_001145374.1	226	aTg/aCg	0	not done		probablydamaging	
UNG		inserm.fr	GRCh37	12	109547662	109547662	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC793T									Valid												ENST00000242576.2:c.830A>G	p.His277Arg	p.H277R	ENST00000242576	NM_080911.2	277	cAt/cGt	0	validated		probablydamaging	
AKD1		inserm.fr	GRCh37	6	109954388	109954388	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	G	G			CHC2351T																					ENST00000424296.2:c.1072A>C	p.Ser358Arg	p.S358R	ENST00000424296	NM_001145128.2	358	Agt/Cgt	0	not done		damaging	
ZC3H12C		inserm.fr	GRCh37	11	110036299	110036299	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB111T																					ENST00000278590.3:c.2489A>G	p.Asp830Gly	p.D830G	ENST00000278590	NM_033390.1	830	gAt/gGt	0	validated		benign	
SH3RF3		inserm.fr	GRCh37	2	110053599	110053599	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1186T																					ENST00000309415.6:c.1825A>G	p.Thr609Ala	p.T609A	ENST00000309415	NM_001099289.1	609	Aca/Gca	0	not done		benign	
FIG4		inserm.fr	GRCh37	6	110064451	110064451	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1736T																					ENST00000230124.3:c.1015A>G	p.Met339Val	p.M339V	ENST00000230124	NM_014845.5	339	Atg/Gtg	0	not done		benign	
C1orf127		inserm.fr	GRCh37	1	11008569	11008569	+	synonymous_variant	Silent	SNP	A	G	G			CHC1052T																					ENST00000377004.4:c.1623T>C	p.Thr541=	p.T541=	ENST00000377004	NM_001170754.1	541	acT/acC	0	validated		synonymous	
GPR61		inserm.fr	GRCh37	1	110086640	110086640	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1756T																					ENST00000527748.1:c.996T>G	p.Phe332Leu	p.F332L	ENST00000527748	NM_031936.4	332	ttT/ttG	0	not done		probablydamaging	
AMPD2		inserm.fr	GRCh37	1	110172087	110172087	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM371T																					ENST00000256578.3:c.1999A>G	p.Met667Val	p.M667V	ENST00000256578	NM_004037.7	667	Atg/Gtg	0	validated		probablydamaging	
TRPV4		inserm.fr	GRCh37	12	110231371	110231371	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC889T									Valid												ENST00000418703.2:c.1619T>C	p.Val540Ala	p.V540A	ENST00000418703	NM_001177431.1	540	gTg/gCg	0	validated		possiblydamaging	
FDX1		inserm.fr	GRCh37	11	110333166	110333166	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1715T																					ENST00000260270.2:c.529T>G	p.Ser177Ala	p.S177A	ENST00000260270	NM_004109.4	177	Tcc/Gcc	0	not done		benign	
YIPF2		inserm.fr	GRCh37	19	11034298	11034298	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC432T																					ENST00000586748.1:c.707T>C	p.Leu236Pro	p.L236P	ENST00000586748		236	cTg/cCg	0	not done		probablydamaging	
PAK3		inserm.fr	GRCh37	X	110406235	110406235	+	synonymous_variant	Silent	SNP	A	G	G			CHC1616T																					ENST00000360648.4:c.669A>G	p.Pro223=	p.P223=	ENST00000360648	NM_001128168.1	223	ccA/ccG	0	not done		synonymous	
SEC24B		inserm.fr	GRCh37	4	110415985	110415985	+	synonymous_variant	Silent	SNP	A	G	G			CHC1915T																					ENST00000265175.5:c.1461A>G	p.Val487=	p.V487=	ENST00000265175	NM_006323.2	487	gtA/gtG	0	validated		synonymous	
WDR36		inserm.fr	GRCh37	5	110448824	110448824	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1743T																					ENST00000506538.2:c.1936A>G	p.Ile646Val	p.I646V	ENST00000506538	NM_139281.2	646	Att/Gtt	0	not done		benign	
PKHD1L1		inserm.fr	GRCh37	8	110454361	110454361	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1186T																					ENST00000378402.5:c.4330A>G	p.Ser1444Gly	p.S1444G	ENST00000378402	NM_177531.4	1444	Agt/Ggt	0	not done		probablydamaging	
SEC24B		inserm.fr	GRCh37	4	110454823	110454823	+	synonymous_variant	Silent	SNP	A	G	G			CHC2216T																					ENST00000265175.5:c.3570A>G	p.Ala1190=	p.A1190=	ENST00000265175	NM_006323.2	1190	gcA/gcG	0	not done		synonymous	
PKHD1L1		inserm.fr	GRCh37	8	110465003	110465003	+	synonymous_variant	Silent	SNP	A	G	G			BCB157T																					ENST00000378402.5:c.6564A>G	p.Gly2188=	p.G2188=	ENST00000378402	NM_177531.4	2188	ggA/ggG	0	validated		synonymous	
CSF1		inserm.fr	GRCh37	1	110465940	110465940	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1629T																					ENST00000329608.6:c.697T>G	p.Ser233Ala	p.S233A	ENST00000329608	NM_000757.5	233	Tcc/Gcc	0	not done		probablydamaging	
PKHD1L1		inserm.fr	GRCh37	8	110498956	110498956	+	synonymous_variant	Silent	SNP	A	G	G			CHC1556T																					ENST00000378402.5:c.9786A>G	p.Lys3262=	p.K3262=	ENST00000378402	NM_177531.4	3262	aaA/aaG	0	not done		synonymous	
CDC40		inserm.fr	GRCh37	6	110530311	110530311	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2098T																					ENST00000368932.1:c.515A>G	p.Gln172Arg	p.Q172R	ENST00000368932		172	cAg/cGg	0	not done		benign	
SLC6A1		inserm.fr	GRCh37	3	11070471	11070471	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC314T																					ENST00000287766.4:c.1129A>G	p.Ile377Val	p.I377V	ENST00000287766	NM_003042.3	377	Atc/Gtc	0	validated		benign	
SLC6A17		inserm.fr	GRCh37	1	110714683	110714683	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	G	G			CHC892T																					ENST00000331565.4:c.288T>G	p.Gly96=	p.G96=	ENST00000331565	NM_001010898.2	96	ggT/ggG	0	not done		damaging	
PHF14		inserm.fr	GRCh37	7	11076271	11076271	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC314T									Valid												ENST00000403050.3:c.1829A>G	p.His610Arg	p.H610R	ENST00000403050	NM_014660.3	610	cAt/cGt	0	validated		possiblydamaging	
KCNC4		inserm.fr	GRCh37	1	110765914	110765914	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC301T									Valid												ENST00000369787.3:c.1007C>G	p.Ser336Cys	p.S336C	ENST00000369787	NM_004978.4	336	tCc/tGc	0	validated		probablydamaging	
ATP2A2		inserm.fr	GRCh37	12	110783162	110783162	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T																					ENST00000539276.2:c.2716A>G	p.Ile906Val	p.I906V	ENST00000539276		906	Ata/Gta	0	validated		benign	
NPHP1		inserm.fr	GRCh37	2	110904391	110904391	+	synonymous_variant	Silent	SNP	A	G	G			CHC2034T																					ENST00000316534.4:c.1459T>C	p.Leu487=	p.L487=	ENST00000316534		487	Tta/Cta	0	not done		synonymous	
NPHP1		inserm.fr	GRCh37	2	110905532	110905532	+	synonymous_variant	Silent	SNP	A	G	G			CHC884T																					ENST00000316534.4:c.1398T>C	p.Leu466=	p.L466=	ENST00000316534		466	ctT/ctC	0	validated		synonymous	
SLC16A4		inserm.fr	GRCh37	1	110919675	110919675	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1738T																					ENST00000369779.4:c.1139A>C	p.Asn380Thr	p.N380T	ENST00000369779	NM_001201547.1	380	aAc/aCc	0	not done		probablydamaging	
BAGE3		inserm.fr	GRCh37	21	11098709	11098709	+	non_coding_transcript_exon_variant	RNA	SNP	A	G	G			CHC2200T																					ENST00000470054.1:n.217T>C		*73*	ENST00000470054				0	not done		synonymous	
ERVFRD-1		inserm.fr	GRCh37	6	11105338	11105338	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1743T																					ENST00000472091.1:c.206A>C	p.Glu69Ala	p.E69A	ENST00000472091	NM_207582.2	69	gAg/gCg	0	not done		benign	
COL4A2		inserm.fr	GRCh37	13	111102123	111102123	+	synonymous_variant	Silent	SNP	C	G	G			CHC912T																					ENST00000360467.5:c.1176C>G	p.Ser392=	p.S392=	ENST00000360467	NM_001846.2	392	tcC/tcG	0	validated		synonymous	
KCNA2		inserm.fr	GRCh37	1	111144672	111144672	+	3_prime_UTR_variant	3'UTR	SNP	A	G	G			BCM723T																					ENST00000485317.1:c.*1233T>C		*411*	ENST00000485317				0	validated			
BUB1		inserm.fr	GRCh37	2	111406869	111406869	+	synonymous_variant	Silent	SNP	A	G	G			CHC2034T																					ENST00000302759.6:c.2289T>C	p.Asn763=	p.N763=	ENST00000302759	NM_004336.4	763	aaT/aaC	0	not done		synonymous	
TAS2R20		inserm.fr	GRCh37	12	11150290	11150290	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2215T																					ENST00000538986.1:c.185T>C	p.Ile62Thr	p.I62T	ENST00000538986	NM_176889.2	62	aTa/aCa	0	not done		benign	
KIAA1919		inserm.fr	GRCh37	6	111588056	111588056	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1741T																					ENST00000368847.4:c.1291A>G	p.Ser431Gly	p.S431G	ENST00000368847	NM_153369.2	431	Agc/Ggc	0	not done		benign	
KIAA1919		inserm.fr	GRCh37	6	111588109	111588109	+	synonymous_variant	Silent	SNP	A	G	G			CHC1040T																					ENST00000368847.4:c.1344A>G	p.Lys448=	p.K448=	ENST00000368847	NM_153369.2	448	aaA/aaG	0	not done		synonymous	
SIK2		inserm.fr	GRCh37	11	111592585	111592585	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM543T																					ENST00000304987.3:c.1976C>G	p.Ser659Cys	p.S659C	ENST00000304987	NM_015191.1	659	tCc/tGc	0	validated		benign	
FAM206A		inserm.fr	GRCh37	9	111701879	111701879	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM695T																					ENST00000322940.6:c.459T>G	p.Ser153Arg	p.S153R	ENST00000322940	NM_017832.3	153	agT/agG	0	validated		probablydamaging	
FDXACB1		inserm.fr	GRCh37	11	111746678	111746678	+	synonymous_variant	Silent	SNP	A	G	G			CHC2206T																					ENST00000260257.4:c.843T>C	p.Asn281=	p.N281=	ENST00000260257	NM_138378.2	281	aaT/aaC	0	not done		synonymous	
TMPRSS7		inserm.fr	GRCh37	3	111768770	111768770	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1148T																					ENST00000419127.1:c.661A>G	p.Ile221Val	p.I221V	ENST00000419127	NM_001042575.2	221	Ata/Gta	0	not done		benign	
ZNF277		inserm.fr	GRCh37	7	111981043	111981043	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM735T																					ENST00000361822.3:c.1126A>G	p.Met376Val	p.M376V	ENST00000361822	NM_021994.2	376	Atg/Gtg	0	validated		benign	
CTNND2		inserm.fr	GRCh37	5	11199716	11199716	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1741T																					ENST00000304623.8:c.1819G>C	p.Glu607Gln	p.E607Q	ENST00000304623	NM_001332.2	607	Gaa/Caa	0	not done		probablydamaging	
FYN		inserm.fr	GRCh37	6	112017548	112017548	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2099T																					ENST00000368678.4:c.965A>C	p.Lys322Thr	p.K322T	ENST00000368678		322	aAg/aCg	0	not done		probablydamaging	
MXI1		inserm.fr	GRCh37	10	112038986	112038986	+	synonymous_variant	Silent	SNP	A	G	G			CHC1065T																					ENST00000332674.5:c.486A>G	p.Pro162=	p.P162=	ENST00000332674	NM_130439.3	162	ccA/ccG	0	validated		synonymous	
CD200		inserm.fr	GRCh37	3	112054850	112054850	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2128T																					ENST00000473539.1:c.73A>G	p.Ile25Val	p.I25V	ENST00000473539	NM_001004196.2	25	Atc/Gtc	0	not done		benign	
PHF14		inserm.fr	GRCh37	7	11209071	11209071	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC805T																					ENST00000445996.2:c.1946A>G	p.Asn649Ser	p.N649S	ENST00000445996		649	aAt/aGt	0	not done		benign	
BRAP		inserm.fr	GRCh37	12	112097068	112097068	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1597T																					ENST00000419234.4:c.1054A>C	p.Thr352Pro	p.T352P	ENST00000419234	NM_006768.3	352	Acg/Ccg	0	not done		probablydamaging	
IFRD1		inserm.fr	GRCh37	7	112098966	112098966	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1569T																					ENST00000403825.3:c.460A>G	p.Ile154Val	p.I154V	ENST00000403825	NM_001550.3	154	Att/Gtt	0	not done		benign	
TAS2R46		inserm.fr	GRCh37	12	11214601	11214601	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB301T																					ENST00000533467.1:c.293T>C	p.Leu98Pro	p.L98P	ENST00000533467	NM_176887.2	98	cTt/cCt	0	validated		benign	
TAS2R46		inserm.fr	GRCh37	12	11214601	11214601	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM257T																					ENST00000533467.1:c.293T>C	p.Leu98Pro	p.L98P	ENST00000533467	NM_176887.2	98	cTt/cCt	0	validated		benign	
APC		inserm.fr	GRCh37	5	112179184	112179184	+	synonymous_variant	Silent	SNP	C	G	G			BCM783T									Valid												ENST00000257430.4:c.7893C>G	p.Ser2631=	p.S2631=	ENST00000257430	NM_000038.5	2631	tcC/tcG	0	validated		synonymous	
ALDH2		inserm.fr	GRCh37	12	112227735	112227735	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC734T																					ENST00000261733.2:c.549T>G	p.Ile183Met	p.I183M	ENST00000261733	NM_000690.3	183	atT/atG	0	validated		probablydamaging	
SMC3		inserm.fr	GRCh37	10	112343232	112343232	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1743T																					ENST00000361804.4:c.895A>G	p.Ile299Val	p.I299V	ENST00000361804	NM_005445.3	299	Att/Gtt	0	not done		benign	
SMC3		inserm.fr	GRCh37	10	112356222	112356222	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC302T																					ENST00000361804.4:c.2030A>G	p.Glu677Gly	p.E677G	ENST00000361804	NM_005445.3	677	gAa/gGa	0	validated		probablydamaging	
SMC3		inserm.fr	GRCh37	10	112360195	112360195	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC2211T																					ENST00000361804.4:c.2428-2A>G		p.X810_splice	ENST00000361804	NM_005445.3			0	not done		damaging	
SMC3		inserm.fr	GRCh37	10	112364019	112364019	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM567T																					ENST00000361804.4:c.3613A>G	p.Met1205Val	p.M1205V	ENST00000361804	NM_005445.3	1205	Atg/Gtg	0	validated		benign	
HECTD4		inserm.fr	GRCh37	12	112600193	112600193	+	stop_lost	Nonstop_Mutation	SNP	A	G	G			BCM723T																					ENST00000550722.1:c.12817T>C	p.Ter4273ArgextTer11	p.*4273Rext*11	ENST00000550722	NM_001109662.3	4273	Tga/Cga	0	validated			
PALM2AKAP2		inserm.fr	GRCh37	9	112705403	112705403	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2351T																					ENST00000314527.4:c.934A>G	p.Met312Val	p.M312V	ENST00000314527	NM_053016.5	312	Atg/Gtg	0	not done			
MTOR		inserm.fr	GRCh37	1	11270957	11270957	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC433T																					ENST00000361445.4:c.3568A>C	p.Ile1190Leu	p.I1190L	ENST00000361445	NM_004958.3	1190	Att/Ctt	0	validated		possiblydamaging	
SOX1		inserm.fr	GRCh37	13	112722240	112722240	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC051T																					ENST00000330949.1:c.268A>G	p.Lys90Glu	p.K90E	ENST00000330949	NM_005986.2	90	Aag/Gag	0	validated		probablydamaging	
MTOR		inserm.fr	GRCh37	1	11293486	11293486	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1603T																					ENST00000361445.4:c.2390A>C	p.Asn797Thr	p.N797T	ENST00000361445	NM_004958.3	797	aAt/aCt	0	not done		benign	
KANK2		inserm.fr	GRCh37	19	11304354	11304354	+	synonymous_variant	Silent	SNP	A	G	G			CHC801T																					ENST00000432929.2:c.402T>C	p.Arg134=	p.R134=	ENST00000432929	NM_001136191.2	134	cgT/cgC	0	not done		synonymous	
ZC3H6		inserm.fr	GRCh37	2	113082085	113082085	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000409871.1:c.1697A>G	p.Glu566Gly	p.E566G	ENST00000409871	NM_198581.2	566	gAg/gGg	0	not done		possiblydamaging	
DOCK6		inserm.fr	GRCh37	19	11311474	11311474	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1081T																					ENST00000294618.7:c.5857T>C	p.Phe1953Leu	p.F1953L	ENST00000294618	NM_020812.3	1953	Ttt/Ctt	0	validated		probablydamaging	
SPICE1		inserm.fr	GRCh37	3	113172642	113172642	+	synonymous_variant	Silent	SNP	T	G	G			CHC1741T																					ENST00000295872.4:c.1813A>C	p.Arg605=	p.R605=	ENST00000295872	NM_144718.3	605	Aga/Cga	0	not done		synonymous	
SPICE1		inserm.fr	GRCh37	3	113212907	113212907	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1186T																					ENST00000295872.4:c.374G>C	p.Arg125Pro	p.R125P	ENST00000295872	NM_144718.3	125	cGt/cCt	0	not done		possiblydamaging	
TTC12		inserm.fr	GRCh37	11	113233172	113233172	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM257T									Valid												ENST00000529221.1:c.1664T>G	p.Val555Gly	p.V555G	ENST00000529221	NM_017868.3	555	gTt/gGt	0	validated		possiblydamaging	
SVEP1		inserm.fr	GRCh37	9	113234469	113234469	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC059T																					ENST00000401783.2:c.2734T>C	p.Tyr912His	p.Y912H	ENST00000401783	NM_153366.3	912	Tat/Cat	0	validated		benign	
MOV10		inserm.fr	GRCh37	1	113236738	113236738	+	stop_gained	Nonsense_Mutation	SNP	T	G	G			CHC799T																					ENST00000413052.2:c.1239T>G	p.Tyr413Ter	p.Y413*	ENST00000413052	NM_001130079.1	413	taT/taG	0	not done		damaging	
TTC12		inserm.fr	GRCh37	11	113239240	113239240	+	non_coding_transcript_exon_variant	RNA	SNP	A	G	G			CHC1629T																					ENST00000602900.1:n.41A>G		*14*	ENST00000602900				0	not done			
MOV10		inserm.fr	GRCh37	1	113240654	113240654	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC465T									Valid												ENST00000413052.2:c.2237A>G	p.Tyr746Cys	p.Y746C	ENST00000413052	NM_001130079.1	746	tAt/tGt	0	validated		probablydamaging	
CSMD3		inserm.fr	GRCh37	8	113267554	113267554	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2048T																					ENST00000297405.5:c.9965T>C	p.Ile3322Thr	p.I3322T	ENST00000297405	NM_198123.1	3322	aTa/aCa	0	not done		probablydamaging	
ANKK1		inserm.fr	GRCh37	11	113269795	113269795	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1061T																					ENST00000303941.3:c.1104C>G	p.Phe368Leu	p.F368L	ENST00000303941	NM_178510.1	368	ttC/ttG	0	validated		benign	
CSMD3		inserm.fr	GRCh37	8	113293513	113293513	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC361TA									Valid												ENST00000297405.5:c.9398T>C	p.Phe3133Ser	p.F3133S	ENST00000297405	NM_198123.1	3133	tTt/tCt	0	validated		probablydamaging	
CSMD3		inserm.fr	GRCh37	8	113293522	113293522	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1753T																					ENST00000297405.5:c.9389G>C	p.Gly3130Ala	p.G3130A	ENST00000297405	NM_198123.1	3130	gGc/gCc	0	not done		possiblydamaging	
SVEP1		inserm.fr	GRCh37	9	113312370	113312370	+	synonymous_variant	Silent	SNP	A	G	G			CHC1591T																					ENST00000401783.2:c.546T>C	p.His182=	p.H182=	ENST00000401783	NM_153366.3	182	caT/caC	0	not done		synonymous	
POLR1B		inserm.fr	GRCh37	2	113333183	113333183	+	synonymous_variant	Silent	SNP	A	G	G			CHC051T																					ENST00000263331.5:c.3285A>G	p.Lys1095=	p.K1095=	ENST00000263331	NM_019014.4	1095	aaA/aaG	0	validated		synonymous	
CSMD3		inserm.fr	GRCh37	8	113364712	113364712	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC051T									Valid												ENST00000297405.5:c.6188A>C	p.Lys2063Thr	p.K2063T	ENST00000297405	NM_198123.1	2063	aAa/aCa	0	validated		benign	
KIAA2018		inserm.fr	GRCh37	3	113373813	113373813	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC889T																					ENST00000316407.4:c.6716A>C	p.His2239Pro	p.H2239P	ENST00000316407	NM_001009899.2	2239	cAt/cCt	0	not done		probablydamaging	
OAS3		inserm.fr	GRCh37	12	113407417	113407417	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM325T																					ENST00000228928.7:c.3109A>G	p.Ile1037Val	p.I1037V	ENST00000228928	NM_006187.2	1037	Atc/Gtc	0	validated		benign	
SLC20A1		inserm.fr	GRCh37	2	113418007	113418007	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC326T																					ENST00000272542.3:c.1651A>G	p.Thr551Ala	p.T551A	ENST00000272542	NM_005415.4	551	Aca/Gca	0	validated		benign	
CSMD3		inserm.fr	GRCh37	8	113504812	113504812	+	synonymous_variant	Silent	SNP	A	G	G			CHC1205T																					ENST00000297405.5:c.5184T>C	p.Asp1728=	p.D1728=	ENST00000297405	NM_198123.1	1728	gaT/gaC	0	not done		synonymous	
PPP1R3A		inserm.fr	GRCh37	7	113517925	113517925	+	synonymous_variant	Silent	SNP	A	G	G			CHC2358T																					ENST00000284601.3:c.3222T>C	p.Ser1074=	p.S1074=	ENST00000284601	NM_002711.3	1074	tcT/tcC	0	validated		synonymous	
ROCK2		inserm.fr	GRCh37	2	11351830	11351830	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM543T																					ENST00000315872.6:c.2180A>C	p.Glu727Ala	p.E727A	ENST00000315872	NM_004850.3	727	gAa/gCa	0	validated		possiblydamaging	
PPP1R3A		inserm.fr	GRCh37	7	113520138	113520138	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1052T									Valid												ENST00000284601.3:c.1009G>C	p.Asp337His	p.D337H	ENST00000284601	NM_002711.3	337	Gat/Cat	0	validated		probablydamaging	
RASAL1		inserm.fr	GRCh37	12	113554885	113554885	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2098T																					ENST00000546530.1:c.724G>C	p.Asp242His	p.D242H	ENST00000546530	NM_004658.2	242	Gat/Cat	0	not done		probablydamaging	
CSMD3		inserm.fr	GRCh37	8	113599456	113599456	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1717T																					ENST00000297405.5:c.3724G>C	p.Gly1242Arg	p.G1242R	ENST00000297405	NM_198123.1	1242	Ggt/Cgt	0	not done		probablydamaging	
ATG7		inserm.fr	GRCh37	3	11372900	11372900	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	G	G			BCM617T																					ENST00000354449.3:c.765A>G	p.Arg255=	p.R255=	ENST00000354449	NM_006395.2	255	agA/agG	0	validated		synonymous	
F7		inserm.fr	GRCh37	13	113761210	113761210	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC361TA																					ENST00000375581.3:c.116C>G	p.Pro39Arg	p.P39R	ENST00000375581	NM_000131.4	39	cCg/cGg	0	validated		benign	
PROZ		inserm.fr	GRCh37	13	113824844	113824844	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	G	G			CHC1545T																					ENST00000342783.4:c.757T>G	p.Tyr253Asp	p.Y253D	ENST00000342783	NM_001256134.1	253	Tat/Gat	0	validated		damaging	
SDS		inserm.fr	GRCh37	12	113830791	113830791	+	synonymous_variant	Silent	SNP	C	G	G			CHC469T																					ENST00000257549.4:c.942G>C	p.Arg314=	p.R314=	ENST00000257549	NM_006843.2	314	cgG/cgC	0	validated		synonymous	
ATG7		inserm.fr	GRCh37	3	11383687	11383687	+	synonymous_variant	Silent	SNP	T	G	G			CHC736T																					ENST00000354449.3:c.1059T>G	p.Val353=	p.V353=	ENST00000354449	NM_006395.2	353	gtT/gtG	0	validated		synonymous	
ATG7		inserm.fr	GRCh37	3	11383692	11383692	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC736T									Valid												ENST00000354449.3:c.1064C>G	p.Ser355Cys	p.S355C	ENST00000354449	NM_006395.2	355	tCt/tGt	0	validated		probablydamaging	
CUL4A		inserm.fr	GRCh37	13	113864303	113864303	+	synonymous_variant	Silent	SNP	C	G	G			BCM257T																					ENST00000375440.4:c.165C>G	p.Pro55=	p.P55=	ENST00000375440	NM_001008895.2	55	ccC/ccG	0	validated		synonymous	
GPAM		inserm.fr	GRCh37	10	113915733	113915733	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1624T																					ENST00000348367.4:c.2200T>C	p.Ser734Pro	p.S734P	ENST00000348367		734	Tct/Cct	0	validated		possiblydamaging	
GPAM		inserm.fr	GRCh37	10	113923500	113923500	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1594T																					ENST00000348367.4:c.1382G>C	p.Arg461Pro	p.R461P	ENST00000348367		461	cGa/cCa	0	not done		probablydamaging	
TSPAN16		inserm.fr	GRCh37	19	11417282	11417282	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	G	G			BCM439T																					ENST00000316737.1:c.453A>G	p.Leu151=	p.L151=	ENST00000316737	NM_012466.2	151	ctA/ctG	0	validated		synonymous	
MARCKS		inserm.fr	GRCh37	6	114181262	114181262	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC327T																					ENST00000368635.4:c.506T>G	p.Phe169Cys	p.F169C	ENST00000368635	NM_002356.5	169	tTc/tGc	0	validated		probablydamaging	
IL13RA2		inserm.fr	GRCh37	X	114250299	114250299	+	synonymous_variant	Silent	SNP	A	G	G			CHC2127T																					ENST00000371936.1:c.180T>C	p.Asp60=	p.D60=	ENST00000371936		60	gaT/gaC	0	not done		synonymous	
ANK2		inserm.fr	GRCh37	4	114280399	114280399	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1747T																					ENST00000357077.4:c.10625C>G	p.Ser3542Cys	p.S3542C	ENST00000357077	NM_001148.4	3542	tCt/tGt	0	not done		probablydamaging	
ANK2		inserm.fr	GRCh37	4	114294443	114294443	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	G	G			CHC1624T																					ENST00000357077.4:c.11697T>G	p.Val3899=	p.V3899=	ENST00000357077	NM_001148.4	3899	gtT/gtG	0	validated		synonymous	
PTPN22		inserm.fr	GRCh37	1	114400391	114400391	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC912T									Valid												ENST00000359785.5:c.377T>C	p.Val126Ala	p.V126A	ENST00000359785	NM_015967.5	126	gTt/gCt	0	validated		probablydamaging	
RBMXL3		inserm.fr	GRCh37	X	114424570	114424570	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC892T																					ENST00000424776.3:c.566A>G	p.Asp189Gly	p.D189G	ENST00000424776	NM_001145346.1	189	gAt/gGt	0	not done		possiblydamaging	
RBMXL3		inserm.fr	GRCh37	X	114425801	114425801	+	synonymous_variant	Silent	SNP	C	G	G			CHC1751T																					ENST00000424776.3:c.1797C>G	p.Leu599=	p.L599=	ENST00000424776	NM_001145346.1	599	ctC/ctG	0	not done		synonymous	
NXPE4		inserm.fr	GRCh37	11	114450943	114450943	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC097T																					ENST00000375478.3:c.1010T>C	p.Met337Thr	p.M337T	ENST00000375478	NM_001077639.1	337	aTg/aCg	0	not done		benign	
C9orf84		inserm.fr	GRCh37	9	114490034	114490034	+	synonymous_variant	Silent	SNP	A	G	G			CHC2351T																					ENST00000374287.3:c.1521T>C	p.Ser507=	p.S507=	ENST00000374287		507	tcT/tcC	0	not done		synonymous	
TRIM36		inserm.fr	GRCh37	5	114499407	114499407	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM783T																					ENST00000282369.3:c.106T>C	p.Cys36Arg	p.C36R	ENST00000282369	NM_018700.3	36	Tgc/Cgc	0	validated		probablydamaging	
PGGT1B		inserm.fr	GRCh37	5	114572150	114572150	+	synonymous_variant	Silent	SNP	A	G	G			CHC304T																					ENST00000419445.1:c.549T>C	p.Tyr183=	p.Y183=	ENST00000419445	NM_005023.3	183	taT/taC	0	validated		synonymous	
NXPE2		inserm.fr	GRCh37	11	114578230	114578230	+	downstream_gene_variant	3'Flank	SNP	A	G	G			CHC1148T																								ENST00000389586	NM_182495.5			0	not done			
TBX5		inserm.fr	GRCh37	12	114793472	114793472	+	synonymous_variant	Silent	SNP	A	G	G			CHC155T																					ENST00000310346.4:c.1422T>C	p.Thr474=	p.T474=	ENST00000310346	NM_000192.3	474	acT/acC	0	validated		synonymous	
TCF7L2		inserm.fr	GRCh37	10	114925445	114925445	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC361TA									Valid												ENST00000543371.1:c.1523A>G	p.Lys508Arg	p.K508R	ENST00000543371	NM_001198531.1	508	aAg/aGg	0	validated		probablydamaging	
CDC16		inserm.fr	GRCh37	13	115012466	115012466	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1053T									Valid												ENST00000360383.3:c.958A>G	p.Arg320Gly	p.R320G	ENST00000360383	NM_001078645.1	320	Aga/Gga	0	validated		probablydamaging	
DENND2C		inserm.fr	GRCh37	1	115167829	115167829	+	synonymous_variant	Silent	SNP	A	G	G			CHC304T																					ENST00000393274.1:c.777T>C	p.Tyr259=	p.Y259=	ENST00000393274	NM_001256404.1	259	taT/taC	0	validated		synonymous	
KIAA1958		inserm.fr	GRCh37	9	115408086	115408086	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1010T																					ENST00000337530.6:c.1328A>G	p.His443Arg	p.H443R	ENST00000337530	NM_001287038.1	443	cAc/cGc	0	not done		benign	
SYCP1		inserm.fr	GRCh37	1	115486958	115486958	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC469T									Valid												ENST00000369522.3:c.1927-2A>G		p.X643_splice	ENST00000369522	NM_003176.2			0	validated		damaging	
PRKCSH		inserm.fr	GRCh37	19	11548757	11548757	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1715T																					ENST00000252455.2:c.257A>G	p.Tyr86Cys	p.Y86C	ENST00000252455	NM_002743.2	86	tAt/tGt	0	not done		probablydamaging	
TFEC		inserm.fr	GRCh37	7	115624376	115624376	+	synonymous_variant	Silent	SNP	T	G	G			BCM703T																					ENST00000265440.7:c.120A>C	p.Thr40=	p.T40=	ENST00000265440	NM_012252.3	40	acA/acC	0	validated		synonymous	
DNAH9		inserm.fr	GRCh37	17	11572447	11572447	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM739T																					ENST00000262442.4:c.2798T>G	p.Phe933Cys	p.F933C	ENST00000262442	NM_001372.3	933	tTc/tGc	0	validated		probablydamaging	
SEMA6A		inserm.fr	GRCh37	5	115837942	115837942	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC218T																					ENST00000343348.6:c.182T>C	p.Ile61Thr	p.I61T	ENST00000343348	NM_020796.3	61	aTt/aCt	0	validated		possiblydamaging	
PTCHD2		inserm.fr	GRCh37	1	11595647	11595647	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC889T																					ENST00000294484.6:c.3762C>G	p.His1254Gln	p.H1254Q	ENST00000294484	NM_020780.1	1254	caC/caG	0	not done		probablydamaging	
PTCHD2		inserm.fr	GRCh37	1	11596506	11596506	+	synonymous_variant	Silent	SNP	A	G	G			CHC2052T																					ENST00000294484.6:c.3942A>G	p.Pro1314=	p.P1314=	ENST00000294484	NM_020780.1	1314	ccA/ccG	0	not done		synonymous	
SLC31A1		inserm.fr	GRCh37	9	116018434	116018434	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2113T																					ENST00000374212.4:c.6T>G	p.Asp2Glu	p.D2E	ENST00000374212	NM_001859.3	2	gaT/gaG	0	not done		benign	
WDR31		inserm.fr	GRCh37	9	116094195	116094195	+	synonymous_variant	Silent	SNP	A	G	G			CHC1568T																					ENST00000374193.4:c.108T>C	p.Tyr36=	p.Y36=	ENST00000374193	NM_145241.3	36	taT/taC	0	not done		synonymous	
BSPRY		inserm.fr	GRCh37	9	116132010	116132010	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2048T																					ENST00000374183.4:c.797C>G	p.Pro266Arg	p.P266R	ENST00000374183	NM_017688.2	266	cCg/cGg	0	not done		probablydamaging	
MET		inserm.fr	GRCh37	7	116339584	116339584	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC197T																					ENST00000397752.3:c.446A>G	p.Asn149Ser	p.N149S	ENST00000397752	NM_000245.2	149	aAt/aGt	0	validated		benign	
ZNF259		inserm.fr	GRCh37	11	116656515	116656515	+	synonymous_variant	Silent	SNP	A	G	G			CHC798T																					ENST00000227322.3:c.579T>C	p.Thr193=	p.T193=	ENST00000227322	NM_003904.3	193	acT/acC	0	validated		synonymous	
MAB21L3		inserm.fr	GRCh37	1	116666906	116666906	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000369500.3:c.409A>G	p.Ile137Val	p.I137V	ENST00000369500	NM_152367.2	137	Att/Gtt	0	not done		probablydamaging	
APOA4		inserm.fr	GRCh37	11	116692180	116692180	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1749T																					ENST00000357780.3:c.594G>C	p.Lys198Asn	p.K198N	ENST00000357780	NM_000482.3	198	aaG/aaC	0	not done		probablydamaging	
APOC3		inserm.fr	GRCh37	11	116701611	116701611	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC1044T																					ENST00000227667.3:c.178A>G	p.Arg60Gly	p.R60G	ENST00000227667	NM_000040.1	60	Agg/Ggg	0	not done		probablydamaging	
TRUB1		inserm.fr	GRCh37	10	116710891	116710891	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC793T																					ENST00000298746.3:c.424A>G	p.Met142Val	p.M142V	ENST00000298746	NM_139169.4	142	Atg/Gtg	0	validated		probablydamaging	
SIK3		inserm.fr	GRCh37	11	116728933	116728933	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2351T																					ENST00000292055.4:c.2930G>C	p.Gly977Ala	p.G977A	ENST00000292055	NM_025164.3	977	gGg/gCg	0	not done		benign	
ZUFSP		inserm.fr	GRCh37	6	116988250	116988250	+	synonymous_variant	Silent	SNP	A	G	G			CHC1763T																					ENST00000368576.3:c.106T>C	p.Leu36=	p.L36=	ENST00000368576	NM_145062.2	36	Ttg/Ctg	0	not done		synonymous	
COL27A1		inserm.fr	GRCh37	9	117066890	117066890	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	G	G			CHC218T																					ENST00000356083.3:c.4875A>G	p.Gln1625=	p.Q1625=	ENST00000356083	NM_032888.2	1625	caA/caG	0	not done		synonymous	
BACE1		inserm.fr	GRCh37	11	117160415	117160415	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1624T																					ENST00000313005.6:c.1373T>C	p.Ile458Thr	p.I458T	ENST00000313005	NM_138971.3	458	aTa/aCa	0	validated		benign	
DFNB31		inserm.fr	GRCh37	9	117185789	117185789	+	synonymous_variant	Silent	SNP	A	G	G			CHC1591T																					ENST00000362057.3:c.1431T>C	p.Ser477=	p.S477=	ENST00000362057	NM_001173425.1	477	tcT/tcC	0	not done		synonymous	
ATRNL1		inserm.fr	GRCh37	10	117221496	117221496	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB157T																					ENST00000355044.3:c.3368A>G	p.Glu1123Gly	p.E1123G	ENST00000355044	NM_207303.2	1123	gAa/gGa	0	validated		probablydamaging	
CEP164		inserm.fr	GRCh37	11	117261882	117261882	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1137T																					ENST00000278935.3:c.2234A>G	p.Glu745Gly	p.E745G	ENST00000278935	NM_014956.4	745	gAg/gGg	0	not done		probablydamaging	
ZNF627		inserm.fr	GRCh37	19	11728231	11728231	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM543T																					ENST00000361113.5:c.913A>G	p.Lys305Glu	p.K305E	ENST00000361113	NM_145295.3	305	Aaa/Gaa	0	validated		probablydamaging	
GREB1		inserm.fr	GRCh37	2	11738881	11738881	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1209T																					ENST00000381486.2:c.2228A>G	p.Asp743Gly	p.D743G	ENST00000381486	NM_014668.3	743	gAc/gGc	0	not done		probablydamaging	
ROS1		inserm.fr	GRCh37	6	117674159	117674159	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2103T																					ENST00000368508.3:c.4315T>C	p.Phe1439Leu	p.F1439L	ENST00000368508	NM_002944.2	1439	Ttt/Ctt	0	not done		benign	
DOCK11		inserm.fr	GRCh37	X	117775228	117775228	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1626T																					ENST00000276202.7:c.4220C>G	p.Thr1407Arg	p.T1407R	ENST00000276202	NM_144658.3	1407	aCa/aGa	0	validated		probablydamaging	
DCBLD1		inserm.fr	GRCh37	6	117846584	117846584	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM689T									Valid												ENST00000296955.8:c.572A>G	p.Asp191Gly	p.D191G	ENST00000296955	NM_173674.1	191	gAt/gGt	0	validated		possiblydamaging	
ANKRD7		inserm.fr	GRCh37	7	117864934	117864934	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2112T																					ENST00000265224.4:c.50A>G	p.Gln17Arg	p.Q17R	ENST00000265224	NM_019644.3	17	cAg/cGg	0	not done		benign	
LOC100526771		inserm.fr	GRCh37	11	117899616	117899616	+	intron_variant,non_coding_transcript_variant	Intron	SNP	A	G	G			CHC2052T																					ENST00000606951.1:n.344+2920T>C		*115*	ENST00000606951				0	not done			
LOC100526771		inserm.fr	GRCh37	11	117900403	117900403	+	intron_variant,non_coding_transcript_variant	Intron	SNP	A	G	G			CHC2112T																					ENST00000606951.1:n.344+2133T>C		*115*	ENST00000606951				0	not done			
LONRF3		inserm.fr	GRCh37	X	118109247	118109247	+	synonymous_variant	Silent	SNP	C	G	G			CHC1743T																					ENST00000371628.3:c.504C>G	p.Pro168=	p.P168=	ENST00000371628	NM_001031855.1	168	ccC/ccG	0	not done		synonymous	
LONRF3		inserm.fr	GRCh37	X	118151569	118151569	+	synonymous_variant	Silent	SNP	C	G	G			BCM723T																					ENST00000371628.3:c.2196C>G	p.Leu732=	p.L732=	ENST00000371628	NM_001031855.1	732	ctC/ctG	0	validated		synonymous	
KIAA1210		inserm.fr	GRCh37	X	118222161	118222161	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM397T																					ENST00000402510.2:c.3032T>C	p.Val1011Ala	p.V1011A	ENST00000402510	NM_020721.1	1011	gTc/gCc	0	validated		benign	
PNLIPRP3		inserm.fr	GRCh37	10	118236615	118236615	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC889T																					ENST00000369230.3:c.1354A>G	p.Ser452Gly	p.S452G	ENST00000369230	NM_001011709.2	452	Agc/Ggc	0	not done		benign	
UBE4A		inserm.fr	GRCh37	11	118243394	118243394	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC205T																					ENST00000431736.2:c.734A>G	p.Asn245Ser	p.N245S	ENST00000431736		245	aAc/aGc	0	validated		benign	
PNLIP		inserm.fr	GRCh37	10	118307955	118307955	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC121T									Valid												ENST00000369221.2:c.285A>G	p.Ile95Met	p.I95M	ENST00000369221	NM_000936.2	95	atA/atG	0	validated		possiblydamaging	
KMT2A		inserm.fr	GRCh37	11	118352550	118352550	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC805T																					ENST00000534358.1:c.3755C>G	p.Pro1252Arg	p.P1252R	ENST00000534358	NM_005933.3	1252	cCt/cGt	0	not done		benign	
DMXL1		inserm.fr	GRCh37	5	118456820	118456820	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T									Valid												ENST00000311085.8:c.1088T>G	p.Ile363Ser	p.I363S	ENST00000311085	NM_005509.4	363	aTc/aGc	0	validated		probablydamaging	
RFC5		inserm.fr	GRCh37	12	118462806	118462806	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC609T																					ENST00000454402.2:c.572A>G	p.Glu191Gly	p.E191G	ENST00000454402	NM_007370.5	191	gAa/gGa	0	validated		benign	
DMXL1		inserm.fr	GRCh37	5	118503353	118503353	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1595T									Valid												ENST00000311085.8:c.5192A>G	p.Tyr1731Cys	p.Y1731C	ENST00000311085	NM_005509.4	1731	tAt/tGt	0	validated		probablydamaging	
CCDC93		inserm.fr	GRCh37	2	118716036	118716036	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM489T																					ENST00000376300.2:c.910G>C	p.Glu304Gln	p.E304Q	ENST00000376300	NM_019044.4	304	Gaa/Caa	0	validated		benign	
EXT1		inserm.fr	GRCh37	8	118830723	118830723	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000378204.2:c.1583G>C	p.Arg528Pro	p.R528P	ENST00000378204	NM_000127.2	528	cGc/cCc	0	not done		probablydamaging	
SUDS3		inserm.fr	GRCh37	12	118839806	118839806	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2098T																					ENST00000543473.1:c.694C>G	p.Pro232Ala	p.P232A	ENST00000543473	NM_022491.2	232	Cca/Gca	0	not done		benign	
FOXR1		inserm.fr	GRCh37	11	118850218	118850218	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2099T																					ENST00000317011.3:c.451A>G	p.Lys151Glu	p.K151E	ENST00000317011	NM_181721.2	151	Aaa/Gaa	0	not done		possiblydamaging	
PDZD8		inserm.fr	GRCh37	10	119042975	119042975	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1601T																					ENST00000334464.5:c.3269T>C	p.Leu1090Pro	p.L1090P	ENST00000334464	NM_173791.3	1090	cTt/cCt	0	not done		probablydamaging	
NDST3		inserm.fr	GRCh37	4	119148044	119148044	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2141T																					ENST00000296499.5:c.1726C>G	p.Pro576Ala	p.P576A	ENST00000296499	NM_004784.2	576	Cct/Gct	0	not done		probablydamaging	
USP2		inserm.fr	GRCh37	11	119244058	119244058	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2321T																					ENST00000260187.2:c.133G>C	p.Glu45Gln	p.E45Q	ENST00000260187	NM_004205.4	45	Gag/Cag	0	validated		possiblydamaging	
FAM184A		inserm.fr	GRCh37	6	119327700	119327700	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC801T																					ENST00000338891.7:c.1727T>C	p.Leu576Pro	p.L576P	ENST00000338891	NM_024581.4	576	cTt/cCt	0	not done		probablydamaging	
ASTN2		inserm.fr	GRCh37	9	119858359	119858359	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2034T																					ENST00000361209.2:c.1087T>C	p.Tyr363His	p.Y363H	ENST00000361209	NM_014010.4	363	Tac/Cac	0	not done		probablydamaging	
C1QL2		inserm.fr	GRCh37	2	119915432	119915432	+	synonymous_variant	Silent	SNP	T	G	G			CHC510T																					ENST00000272520.3:c.414A>C	p.Val138=	p.V138=	ENST00000272520	NM_182528.3	138	gtA/gtC	0	validated		synonymous	
HAO2		inserm.fr	GRCh37	1	119923831	119923831	+	synonymous_variant	Silent	SNP	A	G	G			CHC884T																					ENST00000325945.3:c.123A>G	p.Ala41=	p.A41=	ENST00000325945	NM_016527.2	41	gcA/gcG	0	validated		synonymous	
HSD3B1		inserm.fr	GRCh37	1	120056718	120056718	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1185T																					ENST00000369413.3:c.572A>G	p.Tyr191Cys	p.Y191C	ENST00000369413		191	tAt/tGt	0	not done		probablydamaging	
ETV6		inserm.fr	GRCh37	12	12006397	12006397	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC912T									Valid												ENST00000396373.4:c.365A>G	p.Lys122Arg	p.K122R	ENST00000396373	NM_001987.4	122	aAg/aGg	0	validated		probablydamaging	
GLUD2		inserm.fr	GRCh37	X	120182642	120182642	+	synonymous_variant	Silent	SNP	A	G	G			CHC2206T																					ENST00000328078.1:c.1104A>G	p.Glu368=	p.E368=	ENST00000328078	NM_012084.3	368	gaA/gaG	0	not done		synonymous	
ARHGEF12		inserm.fr	GRCh37	11	120207974	120207974	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC614T																					ENST00000397843.2:c.22A>G	p.Ile8Val	p.I8V	ENST00000397843	NM_015313.2	8	Atc/Gtc	0	validated		benign	
HMGCS2		inserm.fr	GRCh37	1	120295962	120295962	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM543T									Valid												ENST00000369406.3:c.1235A>C	p.Tyr412Ser	p.Y412S	ENST00000369406	NM_005518.3	412	tAt/tCt	0	validated		probablydamaging	
HMGCS2		inserm.fr	GRCh37	1	120301802	120301802	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM617T																					ENST00000369406.3:c.789G>C	p.Leu263Phe	p.L263F	ENST00000369406	NM_005518.3	263	ttG/ttC	0	validated		benign	
HMGCS2		inserm.fr	GRCh37	1	120306934	120306934	+	synonymous_variant	Silent	SNP	A	G	G			CHC798T																					ENST00000369406.3:c.420T>C	p.Ala140=	p.A140=	ENST00000369406	NM_005518.3	140	gcT/gcC	0	validated		synonymous	
PRLHR		inserm.fr	GRCh37	10	120353875	120353875	+	synonymous_variant	Silent	SNP	C	G	G			CHC1704T																					ENST00000239032.2:c.882G>C	p.Leu294=	p.L294=	ENST00000239032	NM_004248.2	294	ctG/ctC	0	not done		synonymous	
FAM86B1		inserm.fr	GRCh37	8	12042960	12042960	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC301T																					ENST00000448228.2:c.715A>C	p.Lys239Gln	p.K239Q	ENST00000448228	NM_001083537.1	239	Aag/Cag	0	validated		benign	
TLR4		inserm.fr	GRCh37	9	120475662	120475662	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCB307T									Valid												ENST00000355622.6:c.1256T>G	p.Leu419Trp	p.L419W	ENST00000355622	NM_138557.2	419	tTg/tGg	0	validated		probablydamaging	
TLR4		inserm.fr	GRCh37	9	120476743	120476743	+	synonymous_variant	Silent	SNP	C	G	G			CHC1746T																					ENST00000355622.6:c.2337C>G	p.Leu779=	p.L779=	ENST00000355622	NM_138557.2	779	ctC/ctG	0	not done		synonymous	
MFN2		inserm.fr	GRCh37	1	12052699	12052699	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC051T									Valid												ENST00000235329.5:c.263T>G	p.Ile88Ser	p.I88S	ENST00000235329	NM_014874.3	88	aTc/aGc	0	validated		probablydamaging	
CCDC64		inserm.fr	GRCh37	12	120530841	120530841	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC614T									Valid												ENST00000397558.2:c.1598A>G	p.Asp533Gly	p.D533G	ENST00000397558	NM_207311.2	533	gAc/gGc	0	validated		probablydamaging	
GCN1L1		inserm.fr	GRCh37	12	120597804	120597804	+	synonymous_variant	Silent	SNP	C	G	G			CHC1704T																					ENST00000300648.6:c.2574G>C	p.Ala858=	p.A858=	ENST00000300648	NM_006836.1	858	gcG/gcC	0	not done		synonymous	
ZNF700		inserm.fr	GRCh37	19	12060334	12060334	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2216T																					ENST00000254321.5:c.1495A>G	p.Ile499Val	p.I499V	ENST00000254321	NM_144566.2	499	Ata/Gta	0	not done		benign	
MFN2		inserm.fr	GRCh37	1	12065809	12065809	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1205T																					ENST00000235329.5:c.1537A>G	p.Ile513Val	p.I513V	ENST00000235329	NM_014874.3	513	Ata/Gta	0	not done		benign	
EIF3A		inserm.fr	GRCh37	10	120817635	120817635	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC304T																					ENST00000369144.3:c.1810G>C	p.Val604Leu	p.V604L	ENST00000369144	NM_003750.2	604	Gtg/Ctg	0	validated		possiblydamaging	
FAM72B		inserm.fr	GRCh37	1	120854557	120854557	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1055T																					ENST00000369390.3:c.421A>G	p.Asn141Asp	p.N141D	ENST00000369390	NM_001100910.1	141	Aat/Gat	0	validated		benign	
ZNF763		inserm.fr	GRCh37	19	12089912	12089912	+	synonymous_variant	Silent	SNP	A	G	G			CHC1624T																					ENST00000343949.5:c.1182A>G	p.Arg394=	p.R394=	ENST00000343949	NM_001012753.1	394	agA/agG	0	validated		synonymous	
RNF10		inserm.fr	GRCh37	12	121000822	121000822	+	synonymous_variant	Silent	SNP	A	G	G			BCB111T																					ENST00000325954.4:c.1203A>G	p.Gln401=	p.Q401=	ENST00000325954	NM_014868.4	401	caA/caG	0	validated		synonymous	
POP5		inserm.fr	GRCh37	12	121017386	121017386	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC902T																					ENST00000357500.4:c.328T>C	p.Cys110Arg	p.C110R	ENST00000357500	NM_015918.3	110	Tgt/Cgt	0	not done		probablydamaging	
ZNF433		inserm.fr	GRCh37	19	12129024	12129024	+	synonymous_variant	Silent	SNP	A	G	G			BCB111T																					ENST00000344980.6:c.96T>C	p.Cys32=	p.C32=	ENST00000344980	NM_001080411.1	32	tgT/tgC	0	validated		synonymous	
TIAL1		inserm.fr	GRCh37	10	121337183	121337183	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1055T									Valid												ENST00000369093.2:c.673T>C	p.Tyr225His	p.Y225H	ENST00000369093	NM_001033925.1	225	Tac/Cac	0	validated		probablydamaging	
GOLGB1		inserm.fr	GRCh37	3	121410195	121410195	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC327T									Valid												ENST00000393667.3:c.8016G>C	p.Lys2672Asn	p.K2672N	ENST00000393667	NM_001256486.1	2672	aaG/aaC	0	validated		possiblydamaging	
GOLGB1		inserm.fr	GRCh37	3	121413124	121413124	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC197T									Valid												ENST00000393667.3:c.6246A>C	p.Leu2082Phe	p.L2082F	ENST00000393667	NM_001256486.1	2082	ttA/ttC	0	validated		probablydamaging	
HNF1A		inserm.fr	GRCh37	12	121416583	121416583	+	synonymous_variant	Silent	SNP	A	G	G			CHC923T																					ENST00000257555.6:c.12A>G	p.Lys4=	p.K4=	ENST00000257555		4	aaA/aaG	0	not done		synonymous	
SORL1		inserm.fr	GRCh37	11	121424661	121424661	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC314T																					ENST00000260197.7:c.2282T>G	p.Ile761Ser	p.I761S	ENST00000260197	NM_003105.5	761	aTt/aGt	0	validated		possiblydamaging	
SORL1		inserm.fr	GRCh37	11	121430234	121430234	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM337T																					ENST00000260197.7:c.2917A>G	p.Ile973Val	p.I973V	ENST00000260197	NM_003105.5	973	Atc/Gtc	0	validated		benign	
HNF1A		inserm.fr	GRCh37	12	121431321	121431321	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC798T									Valid												ENST00000257555.6:c.527-2A>G		p.X176_splice	ENST00000257555				0	validated		damaging	
C12orf43		inserm.fr	GRCh37	12	121444123	121444123	+	splice_donor_variant	Splice_Site	SNP	C	G	G			CHC1725T																					ENST00000288757.3:c.361+1G>C		p.X121_splice	ENST00000288757	NM_022895.1			0	not done		possiblydamaging	
DHTKD1		inserm.fr	GRCh37	10	12155051	12155051	+	synonymous_variant	Silent	SNP	A	G	G			CHC2141T																					ENST00000263035.4:c.2307A>G	p.Leu769=	p.L769=	ENST00000263035	NM_018706.6	769	ttA/ttG	0	not done		synonymous	
MCMBP		inserm.fr	GRCh37	10	121595050	121595050	+	splice_donor_variant	Splice_Site	SNP	A	G	G			CHC2103T																					ENST00000360003.3:c.1713+2T>C		p.X571_splice	ENST00000360003	NM_001256378.1			0	not done		damaging	
DHTKD1		inserm.fr	GRCh37	10	12159726	12159726	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1732T																					ENST00000263035.4:c.2374A>G	p.Ile792Val	p.I792V	ENST00000263035	NM_018706.6	792	Att/Gtt	0	not done		benign	
P2RX4		inserm.fr	GRCh37	12	121655039	121655039	+	synonymous_variant	Silent	SNP	T	G	G			CHC892T																					ENST00000359949.7:c.285T>G	p.Leu95=	p.L95=	ENST00000359949	NM_001256796.1	95	ctT/ctG	0	not done		synonymous	
CAMKK2		inserm.fr	GRCh37	12	121693372	121693372	+	synonymous_variant	Silent	SNP	C	G	G			CHC1568T																					ENST00000324774.5:c.888G>C	p.Leu296=	p.L296=	ENST00000324774	NM_006549.3	296	ctG/ctC	0	not done		synonymous	
GJA1		inserm.fr	GRCh37	6	121768131	121768131	+	synonymous_variant	Silent	SNP	A	G	G			BCM275T																					ENST00000282561.3:c.138A>G	p.Gly46=	p.G46=	ENST00000282561	NM_000165.3	46	ggA/ggG	0	validated		synonymous	
MORN3		inserm.fr	GRCh37	12	122090688	122090688	+	synonymous_variant	Silent	SNP	C	G	G			BCM375T																					ENST00000355329.3:c.675G>C	p.Val225=	p.V225=	ENST00000355329	NM_173855.4	225	gtG/gtC	0	validated		synonymous	
RHOF		inserm.fr	GRCh37	12	122219032	122219032	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1592T																					ENST00000267205.2:c.293A>C	p.Tyr98Ser	p.Y98S	ENST00000267205	NM_019034.2	98	tAt/tCt	0	not done		probablydamaging	
QRFPR		inserm.fr	GRCh37	4	122250805	122250805	+	synonymous_variant	Silent	SNP	A	G	G			BCM375T																					ENST00000394427.2:c.960T>C	p.Ile320=	p.I320=	ENST00000394427	NM_198179.2	320	atT/atC	0	validated		synonymous	
SETD1B		inserm.fr	GRCh37	12	122257756	122257756	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC703T																					ENST00000267197.5:c.3736A>G	p.Lys1246Glu	p.K1246E	ENST00000267197	NM_015048.1	1246	Aag/Gag	0	validated		benign	
NUDT5		inserm.fr	GRCh37	10	12226907	12226907	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM325T																					ENST00000491614.1:c.112G>C	p.Asp38His	p.D38H	ENST00000491614		38	Gat/Cat	0	validated		probablydamaging	
MICAL2		inserm.fr	GRCh37	11	12229656	12229656	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1052T																					ENST00000256194.4:c.559C>G	p.Leu187Val	p.L187V	ENST00000256194	NM_014632.2	187	Cta/Gta	0	validated		benign	
PARP15		inserm.fr	GRCh37	3	122350936	122350936	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2362T																					ENST00000464300.2:c.1442A>G	p.Asn481Ser	p.N481S	ENST00000464300	NM_001113523.1	481	aAt/aGt	0	validated		benign	
PARP14		inserm.fr	GRCh37	3	122411318	122411318	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC889T																					ENST00000474629.2:c.526T>G	p.Ser176Ala	p.S176A	ENST00000474629	NM_017554.2	176	Tct/Gct	0	not done		benign	
PRDM6		inserm.fr	GRCh37	5	122425866	122425866	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1568T																					ENST00000407847.4:c.157C>G	p.Pro53Ala	p.P53A	ENST00000407847	NM_001136239.1	53	Ccg/Gcg	0	validated		benign	
ZNF625		inserm.fr	GRCh37	19	12251090	12251090	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	G	G			CHC1148T																					ENST00000430024.1:c.317T>C	p.Leu106Pro	p.L106P	ENST00000430024		106	cTg/cCg	0	not done			
HAS2		inserm.fr	GRCh37	8	122626718	122626718	+	synonymous_variant	Silent	SNP	A	G	G			CHC1756T																					ENST00000303924.4:c.1290T>C	p.Asn430=	p.N430=	ENST00000303924	NM_005328.2	430	aaT/aaC	0	not done		synonymous	
HAS2		inserm.fr	GRCh37	8	122641099	122641099	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC805T																					ENST00000303924.4:c.482A>C	p.Asp161Ala	p.D161A	ENST00000303924	NM_005328.2	161	gAt/gCt	0	not done		benign	
DIABLO		inserm.fr	GRCh37	12	122709173	122709173	+	synonymous_variant	Silent	SNP	A	G	G			CHC2103T																					ENST00000443649.3:c.69T>C	p.Cys23=	p.C23=	ENST00000443649	NM_019887.5	23	tgT/tgC	0	not done		synonymous	
HSF2		inserm.fr	GRCh37	6	122753152	122753152	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM339T																					ENST00000368455.4:c.1398T>G	p.Ser466Arg	p.S466R	ENST00000368455	NM_004506.3	466	agT/agG	0	validated		benign	
THOC2		inserm.fr	GRCh37	X	122759875	122759875	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1915T									Valid												ENST00000245838.8:c.2945T>C	p.Ile982Thr	p.I982T	ENST00000245838	NM_001081550.1	982	aTa/aCa	0	validated		possiblydamaging	
THOC2		inserm.fr	GRCh37	X	122761787	122761787	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCB167T																					ENST00000245838.8:c.2514G>C	p.Lys838Asn	p.K838N	ENST00000245838	NM_001081550.1	838	aaG/aaC	0	validated		probablydamaging	
TRPC3		inserm.fr	GRCh37	4	122836057	122836057	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000379645.3:c.1219T>C	p.Trp407Arg	p.W407R	ENST00000379645	NM_001130698.1	407	Tgg/Cgg	0	validated		possiblydamaging	
ADARB2		inserm.fr	GRCh37	10	1229208	1229208	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM257T																					ENST00000381312.1:c.2145G>C	p.Lys715Asn	p.K715N	ENST00000381312	NM_018702.3	715	aaG/aaC	0	validated		benign	
HSPA8		inserm.fr	GRCh37	11	122930485	122930485	+	synonymous_variant	Silent	SNP	A	G	G			CHC796T																					ENST00000534624.1:c.816T>C	p.Arg272=	p.R272=	ENST00000534624	NM_006597.5	272	cgT/cgC	0	validated		synonymous	
CLMP		inserm.fr	GRCh37	11	122953901	122953901	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC798T									Valid												ENST00000448775.2:c.571G>C	p.Gly191Arg	p.G191R	ENST00000448775	NM_024769.2	191	Gga/Cga	0	validated		probablydamaging	
ZNF136		inserm.fr	GRCh37	19	12298799	12298799	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1052T																					ENST00000343979.4:c.1606A>G	p.Met536Val	p.M536V	ENST00000343979	NM_003437.3	536	Atg/Gtg	0	validated		benign	
RSRC2		inserm.fr	GRCh37	12	122990162	122990162	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2208T																					ENST00000331738.7:c.1217A>C	p.Gln406Pro	p.Q406P	ENST00000331738	NM_023012.5	406	cAg/cCg	0	not done		probablydamaging	
IQUB		inserm.fr	GRCh37	7	123097435	123097435	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC793T																					ENST00000466202.1:c.2193G>C	p.Glu731Asp	p.E731D	ENST00000466202	NM_001282855.1	731	gaG/gaC	0	validated		damaging	
SMPDL3A		inserm.fr	GRCh37	6	123127393	123127393	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM783T																					ENST00000368440.4:c.935C>G	p.Ser312Cys	p.S312C	ENST00000368440	NM_006714.3	312	tCt/tGt	0	validated		probablydamaging	
BLTP1		inserm.fr	GRCh37	4	123159305	123159305	+	synonymous_variant	Silent	SNP	A	G	G			CHC197T																					ENST00000264501.4:c.3633A>G	p.Val1211=	p.V1211=	ENST00000264501		1211	gtA/gtG	0	validated		synonymous	
HCAR2		inserm.fr	GRCh37	12	123186747	123186747	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC917T																					ENST00000328880.5:c.1084T>C	p.Ser362Pro	p.S362P	ENST00000328880	NM_177551.3	362	Tct/Cct	0	validated		benign	
BLTP1		inserm.fr	GRCh37	4	123195557	123195557	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000264501.4:c.8506A>G	p.Ile2836Val	p.I2836V	ENST00000264501		2836	Att/Gtt	0	validated		possiblydamaging	
HCAR1		inserm.fr	GRCh37	12	123214731	123214731	+	synonymous_variant	Silent	SNP	A	G	G			CHC2098T																					ENST00000432564.1:c.156T>C	p.Val52=	p.V52=	ENST00000432564	NM_032554.3	52	gtT/gtC	0	not done		synonymous	
BLTP1		inserm.fr	GRCh37	4	123236823	123236823	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1600T																					ENST00000264501.4:c.10519A>G	p.Met3507Val	p.M3507V	ENST00000264501		3507	Atg/Gtg	0	not done		probablydamaging	
BLTP1		inserm.fr	GRCh37	4	123239411	123239411	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1192T																					ENST00000264501.4:c.10780A>G	p.Arg3594Gly	p.R3594G	ENST00000264501		3594	Agg/Ggg	0	not done		probablydamaging	
CCDC62		inserm.fr	GRCh37	12	123285739	123285739	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1751T																					ENST00000253079.6:c.1046A>G	p.Gln349Arg	p.Q349R	ENST00000253079	NM_201435.4	349	cAg/cGg	0	not done		possiblydamaging	
VPS37B		inserm.fr	GRCh37	12	123380574	123380574	+	synonymous_variant	Silent	SNP	C	G	G			CHC1704T																					ENST00000267202.2:c.36G>C	p.Gly12=	p.G12=	ENST00000267202	NM_024667.2	12	ggG/ggC	0	not done		synonymous	
IL21		inserm.fr	GRCh37	4	123542011	123542011	+	synonymous_variant	Silent	SNP	A	G	G			CHC1745T																					ENST00000264497.3:c.156T>C	p.Tyr52=	p.Y52=	ENST00000264497	NM_021803.3	52	taT/taC	0	not done		synonymous	
CCDC14		inserm.fr	GRCh37	3	123633953	123633953	+	synonymous_variant	Silent	SNP	A	G	G			CHC1209T																					ENST00000433542.2:c.2412T>C	p.Leu804=	p.L804=	ENST00000433542	NM_022757.4	804	ctT/ctC	0	not done		synonymous	
OR6M1		inserm.fr	GRCh37	11	123676630	123676630	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC703T																					ENST00000309154.2:c.428T>C	p.Val143Ala	p.V143A	ENST00000309154	NM_001005325.1	143	gTt/gCt	0	validated		probablydamaging	
TRDN		inserm.fr	GRCh37	6	123824819	123824819	+	intron_variant	Intron	SNP	A	G	G			CHC1531T																					ENST00000398178.3:c.793+45T>C		*265*	ENST00000398178	NM_006073.3			0	not done		synonymous	
VWDE		inserm.fr	GRCh37	7	12383900	12383900	+	synonymous_variant	Silent	SNP	A	G	G			CHC2103T																					ENST00000275358.3:c.3999T>C	p.Asp1333=	p.D1333=	ENST00000275358	NM_001135924.1	1333	gaT/gaC	0	not done		synonymous	
OR10G8		inserm.fr	GRCh37	11	123901107	123901107	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC703T																					ENST00000431524.1:c.778A>G	p.Arg260Gly	p.R260G	ENST00000431524	NM_001004464.1	260	Agg/Ggg	0	validated		probablydamaging	
CNTRL		inserm.fr	GRCh37	9	123911028	123911028	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM371T																					ENST00000373855.1:c.3538C>G	p.Pro1180Ala	p.P1180A	ENST00000373855		1180	Cca/Gca	0	validated		benign	
SNRNP35		inserm.fr	GRCh37	12	123950110	123950110	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1148T																					ENST00000412157.2:c.38C>G	p.Ala13Gly	p.A13G	ENST00000412157	NM_180699.3	13	gCc/gGc	0	not done		probablydamaging	
RAB14		inserm.fr	GRCh37	9	123954500	123954500	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC1040T																					ENST00000373840.4:c.55G>C	p.Asp19His	p.D19H	ENST00000373840	NM_016322.3	19	Gac/Cac	0	not done		probablydamaging	
VWDE		inserm.fr	GRCh37	7	12395906	12395906	+	synonymous_variant	Silent	SNP	A	G	G			CHC1616T																					ENST00000275358.3:c.3576T>C	p.Asp1192=	p.D1192=	ENST00000275358	NM_001135924.1	1192	gaT/gaC	0	not done		synonymous	
ZNF608		inserm.fr	GRCh37	5	124079828	124079828	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC614T																					ENST00000306315.5:c.855A>C	p.Glu285Asp	p.E285D	ENST00000306315	NM_020747.2	285	gaA/gaC	0	validated		benign	
VPS13D		inserm.fr	GRCh37	1	12409249	12409249	+	synonymous_variant	Silent	SNP	A	G	G			CHC1747T																					ENST00000358136.3:c.9249A>G	p.Pro3083=	p.P3083=	ENST00000358136	NM_015378.2	3083	ccA/ccG	0	not done		synonymous	
PPARG		inserm.fr	GRCh37	3	12422962	12422962	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1531T																					ENST00000287820.6:c.452A>G	p.Tyr151Cys	p.Y151C	ENST00000287820	NM_015869.4	151	tAt/tGt	0	validated		probablydamaging	
DNAH10		inserm.fr	GRCh37	12	124359894	124359894	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T									Valid												ENST00000409039.3:c.7701T>G	p.Phe2567Leu	p.F2567L	ENST00000409039	NM_207437.3	2567	ttT/ttG	0	validated		probablydamaging	
TBRG1		inserm.fr	GRCh37	11	124501169	124501169	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC798T									Valid												ENST00000441174.3:c.948-2A>G		p.X316_splice	ENST00000441174	NM_032811.2			0	validated		damaging	
CACNA1H		inserm.fr	GRCh37	16	1245457	1245457	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1205T																					ENST00000348261.5:c.437T>G	p.Phe146Cys	p.F146C	ENST00000348261	NM_021098.2	146	tTt/tGt	0	not done		probablydamaging	
VPS13D		inserm.fr	GRCh37	1	12464004	12464004	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1715T																					ENST00000358136.3:c.12008A>G	p.Asn4003Ser	p.N4003S	ENST00000358136	NM_015378.2	4003	aAc/aGc	0	not done		benign	
BUB3		inserm.fr	GRCh37	10	124922229	124922229	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM399T																					ENST00000368865.4:c.856A>G	p.Asn286Asp	p.N286D	ENST00000368865	NM_004725.3	286	Aat/Gat	0	validated		benign	
TMEM218		inserm.fr	GRCh37	11	124972545	124972545	+	intron_variant	Intron	SNP	A	G	G			CHC1148T																					ENST00000455225.1:c.-77+85T>C		*26*	ENST00000455225				0	not done			
MRRF		inserm.fr	GRCh37	9	125042769	125042769	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2127T																					ENST00000344641.3:c.232T>G	p.Leu78Val	p.L78V	ENST00000344641	NM_138777.3	78	Ttg/Gtg	0	not done		benign	
FER1L6		inserm.fr	GRCh37	8	125082825	125082825	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM325T																					ENST00000522917.1:c.3952A>G	p.Ile1318Val	p.I1318V	ENST00000522917	NM_001039112.2	1318	Ata/Gta	0	validated		benign	
OR1J4		inserm.fr	GRCh37	9	125282185	125282185	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC155T																					ENST00000340750.1:c.766A>G	p.Ile256Val	p.I256V	ENST00000340750	NM_001004452.1	256	Att/Gtt	0	validated		benign	
OR1B1		inserm.fr	GRCh37	9	125391063	125391063	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2113T																					ENST00000304833.3:c.752T>C	p.Leu251Pro	p.L251P	ENST00000304833	NM_001004450.1	251	cTc/cCc	0	not done		probablydamaging	
EI24		inserm.fr	GRCh37	11	125448950	125448950	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC434T																					ENST00000278903.6:c.547C>G	p.Leu183Val	p.L183V	ENST00000278903	NM_004879.3	183	Ctt/Gtt	0	validated		probablydamaging	
EI24		inserm.fr	GRCh37	11	125452269	125452269	+	synonymous_variant	Silent	SNP	T	G	G			CHC1052T																					ENST00000278903.6:c.813T>G	p.Pro271=	p.P271=	ENST00000278903	NM_004879.3	271	ccT/ccG	0	validated		synonymous	
OR5C1		inserm.fr	GRCh37	9	125551827	125551827	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC798T																					ENST00000373680.2:c.616A>G	p.Ile206Val	p.I206V	ENST00000373680	NM_001001923.1	206	Atc/Gtc	0	validated		benign	
DCAF12L1		inserm.fr	GRCh37	X	125686309	125686309	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1597T																					ENST00000371126.1:c.283G>C	p.Gly95Arg	p.G95R	ENST00000371126	NM_178470.4	95	Ggc/Cgc	0	not done		probablydamaging	
DCAF12L1		inserm.fr	GRCh37	X	125686310	125686310	+	synonymous_variant	Silent	SNP	C	G	G			CHC1597T																					ENST00000371126.1:c.282G>C	p.Leu94=	p.L94=	ENST00000371126	NM_178470.4	94	ctG/ctC	0	not done		synonymous	
RABGAP1		inserm.fr	GRCh37	9	125782613	125782613	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2115T																					ENST00000373647.4:c.1669A>G	p.Lys557Glu	p.K557E	ENST00000373647	NM_012197.3	557	Aag/Gag	0	not done		benign	
C3orf83		inserm.fr	GRCh37	3	12583494	12583494	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1534T																					ENST00000564146.3:c.296G>C	p.Gly99Ala	p.G99A	ENST00000564146	NM_001195279.1	99	gGt/gCt	0	validated			
CDON		inserm.fr	GRCh37	11	125851222	125851222	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC1603T																					ENST00000392693.3:c.2998T>C	p.Tyr1000His	p.Y1000H	ENST00000392693	NM_001243597.1	1000	Tat/Cat	0	not done		probablydamaging	
ALDH7A1		inserm.fr	GRCh37	5	125882035	125882035	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM735T																					ENST00000409134.3:c.1546T>C	p.Tyr516His	p.Y516H	ENST00000409134	NM_001201377.1	516	Tac/Cac	0	validated		probablydamaging	
KLF15		inserm.fr	GRCh37	3	126071535	126071535	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1209T																					ENST00000296233.3:c.231G>C	p.Leu77Phe	p.L77F	ENST00000296233	NM_014079.3	77	ttG/ttC	0	not done		probablydamaging	
MKRN2		inserm.fr	GRCh37	3	12611685	12611685	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1629T																					ENST00000170447.7:c.271A>G	p.Ile91Val	p.I91V	ENST00000170447	NM_014160.4	91	Att/Gtt	0	not done		benign	
CRB2		inserm.fr	GRCh37	9	126118562	126118562	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2098T																					ENST00000373631.3:c.23C>G	p.Thr8Ser	p.T8S	ENST00000373631	NM_173689.5	8	aCc/aGc	0	not done		benign	
MKRN2		inserm.fr	GRCh37	3	12616344	12616344	+	synonymous_variant	Silent	SNP	A	G	G			CHC1756T																					ENST00000170447.7:c.696A>G	p.Ala232=	p.A232=	ENST00000170447	NM_014160.4	232	gcA/gcG	0	not done		synonymous	
MKRN2		inserm.fr	GRCh37	3	12623715	12623715	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC805T																					ENST00000170447.7:c.1214T>G	p.Phe405Cys	p.F405C	ENST00000170447	NM_014160.4	405	tTc/tGc	0	not done		probablydamaging	
FAT4		inserm.fr	GRCh37	4	126237783	126237783	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2115T																					ENST00000394329.3:c.217A>G	p.Arg73Gly	p.R73G	ENST00000394329	NM_024582.4	73	Agg/Ggg	0	not done		probablydamaging	
FAT4		inserm.fr	GRCh37	4	126239610	126239610	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC798T																					ENST00000394329.3:c.2044A>G	p.Ile682Val	p.I682V	ENST00000394329	NM_024582.4	682	Ata/Gta	0	validated		benign	
ST3GAL4		inserm.fr	GRCh37	11	126277213	126277213	+	synonymous_variant	Silent	SNP	T	G	G			CHC2052T																					ENST00000526727.1:c.249T>G	p.Ala83=	p.A83=	ENST00000526727		83	gcT/gcG	0	not done		synonymous	
ZRANB1		inserm.fr	GRCh37	10	126655189	126655189	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1717T																					ENST00000359653.4:c.841A>G	p.Ile281Val	p.I281V	ENST00000359653	NM_017580.2	281	Ata/Gta	0	not done		benign	
MYOCD		inserm.fr	GRCh37	17	12666879	12666879	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC302T									Valid												ENST00000425538.1:c.2879C>G	p.Pro960Arg	p.P960R	ENST00000425538	NM_001146312.1	960	cCc/cGc	0	validated		probablydamaging	
CTBP2		inserm.fr	GRCh37	10	126691588	126691588	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000309035.6:c.1919T>C	p.Val640Ala	p.V640A	ENST00000309035	NM_022802.2	640	gTg/gCg	0	not done		possiblydamaging	
PRRC1		inserm.fr	GRCh37	5	126887577	126887577	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM375T									Valid												ENST00000296666.8:c.1307A>G	p.Tyr436Cys	p.Y436C	ENST00000296666	NM_130809.3	436	tAt/tGt	0	validated		probablydamaging	
CNTN6		inserm.fr	GRCh37	3	1269575	1269575	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1052T																					ENST00000446702.2:c.256A>G	p.Ile86Val	p.I86V	ENST00000446702		86	Atc/Gtc	0	validated		probablydamaging	
TERT		inserm.fr	GRCh37	5	1271232	1271232	+	splice_donor_variant	Splice_Site	SNP	A	G	G			CHC432T																					ENST00000310581.5:c.2468+2T>C		p.X823_splice	ENST00000310581	NM_198253.2			0	validated		damaging	
ACTRT1		inserm.fr	GRCh37	X	127185547	127185547	+	synonymous_variant	Silent	SNP	A	G	G			CHC304T																					ENST00000371124.3:c.639T>C	p.Asn213=	p.N213=	ENST00000371124	NM_138289.3	213	aaT/aaC	0	validated		synonymous	
GPR144		inserm.fr	GRCh37	9	127214891	127214891	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1531T																					ENST00000334810.1:c.227A>G	p.Gln76Arg	p.Q76R	ENST00000334810	NM_001161808.1	76	cAg/cGg	0	not done		benign	
FRMPD4		inserm.fr	GRCh37	X	12725703	12725703	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM265T																					ENST00000380682.1:c.1403A>G	p.Asn468Ser	p.N468S	ENST00000380682	NM_014728.3	468	aAc/aGc	0	validated		benign	
TPSG1		inserm.fr	GRCh37	16	1272652	1272652	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC2103T									Valid												ENST00000234798.4:c.511G>C	p.Glu171Gln	p.E171Q	ENST00000234798	NM_012467.3	171	Gag/Cag	0	validated		possiblydamaging	
SLC12A2		inserm.fr	GRCh37	5	127510342	127510342	+	synonymous_variant	Silent	SNP	A	G	G			CHC1629T																					ENST00000262461.2:c.2913A>G	p.Lys971=	p.K971=	ENST00000262461	NM_001046.2	971	aaA/aaG	0	not done		synonymous	
BCCIP		inserm.fr	GRCh37	10	127516141	127516141	+	synonymous_variant	Silent	SNP	T	G	G			CHC909T																					ENST00000368759.5:c.255T>G	p.Ala85=	p.A85=	ENST00000368759	NM_016567.3	85	gcT/gcG	0	not done		synonymous	
RNF146		inserm.fr	GRCh37	6	127608269	127608269	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000368314.1:c.511A>G	p.Ile171Val	p.I171V	ENST00000368314	NM_001242850.1	171	Ata/Gta	0	not done		benign	
ECHDC1		inserm.fr	GRCh37	6	127611345	127611345	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2321T																					ENST00000531967.1:c.593G>C	p.Arg198Pro	p.R198P	ENST00000531967	NM_001139510.1	198	cGg/cCg	0	validated		probablydamaging	
FBN2		inserm.fr	GRCh37	5	127611788	127611788	+	synonymous_variant	Silent	SNP	A	G	G			CHC898T																					ENST00000508053.1:c.7536T>C	p.Ser2512=	p.S2512=	ENST00000508053		2512	agT/agC	0	not done		synonymous	
SEC61A1		inserm.fr	GRCh37	3	127785830	127785830	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC805T																					ENST00000243253.3:c.811C>G	p.Arg271Gly	p.R271G	ENST00000243253	NM_013336.3	271	Cgc/Ggc	0	not done		possiblydamaging	
RABEPK		inserm.fr	GRCh37	9	127995965	127995965	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC1040T																					ENST00000373538.3:c.827-2A>G		p.X276_splice	ENST00000373538	NM_005833.3			0	not done		possiblydamaging	
FBXW9		inserm.fr	GRCh37	19	12800444	12800444	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC2098T																					ENST00000393261.3:c.1147T>C	p.Ser383Pro	p.S383P	ENST00000393261	NM_032301.2	383	Tcc/Ccc	0	validated		damaging	
GAPVD1		inserm.fr	GRCh37	9	128070034	128070034	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1715T																					ENST00000394105.2:c.1316A>G	p.Asn439Ser	p.N439S	ENST00000394105	NM_015635.2	439	aAt/aGt	0	not done		possiblydamaging	
GATA2		inserm.fr	GRCh37	3	128204799	128204799	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC892T																					ENST00000341105.2:c.642G>C	p.Gln214His	p.Q214H	ENST00000341105	NM_032638.4	214	caG/caC	0	not done		benign	
PRPS2		inserm.fr	GRCh37	X	12828223	12828223	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC097T																					ENST00000398491.2:c.497A>G	p.Lys166Arg	p.K166R	ENST00000398491		166	aAg/aGg	0	not done		benign	
SLC27A6		inserm.fr	GRCh37	5	128301846	128301846	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC451T																					ENST00000262462.4:c.16C>G	p.Leu6Val	p.L6V	ENST00000262462		6	Cta/Gta	0	validated		benign	
PTPRK		inserm.fr	GRCh37	6	128385936	128385936	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2141T																					ENST00000368213.5:c.2161A>C	p.Thr721Pro	p.T721P	ENST00000368213	NM_001135648.1	721	Act/Cct	0	not done		probablydamaging	
CALU		inserm.fr	GRCh37	7	128398955	128398955	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2127T																					ENST00000542996.2:c.470A>G	p.Tyr157Cys	p.Y157C	ENST00000542996	NM_001199672.1	157	tAt/tGt	0	not done		probablydamaging	
CAND2		inserm.fr	GRCh37	3	12851569	12851569	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM617T																					ENST00000456430.2:c.503C>G	p.Pro168Arg	p.P168R	ENST00000456430	NM_001162499.1	168	cCg/cGg	0	validated		benign	
RAB7A		inserm.fr	GRCh37	3	128525328	128525328	+	synonymous_variant	Silent	SNP	C	G	G			CHC2358T																					ENST00000265062.3:c.294C>G	p.Thr98=	p.T98=	ENST00000265062	NM_004637.5	98	acC/acG	0	validated		synonymous	
ACAD9		inserm.fr	GRCh37	3	128628196	128628196	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC892T																					ENST00000308982.7:c.1495A>G	p.Asn499Asp	p.N499D	ENST00000308982	NM_014049.4	499	Aac/Gac	0	not done		benign	
TNPO3		inserm.fr	GRCh37	7	128645186	128645186	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1148T																					ENST00000265388.5:c.580G>C	p.Asp194His	p.D194H	ENST00000265388		194	Gat/Cat	0	not done		possiblydamaging	
PLK4		inserm.fr	GRCh37	4	128814920	128814920	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC302T																					ENST00000270861.5:c.2446T>G	p.Leu816Val	p.L816V	ENST00000270861	NM_014264.4	816	Tta/Gta	0	validated		benign	
SMO		inserm.fr	GRCh37	7	128829066	128829066	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM275T																					ENST00000249373.3:c.74A>G	p.Asp25Gly	p.D25G	ENST00000249373	NM_005631.4	25	gAc/gGc	0	validated		benign	
SMO		inserm.fr	GRCh37	7	128829066	128829066	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM543T																					ENST00000249373.3:c.74A>G	p.Asp25Gly	p.D25G	ENST00000249373	NM_005631.4	25	gAc/gGc	0	validated		benign	
SMO		inserm.fr	GRCh37	7	128829216	128829216	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1028T																					ENST00000249373.3:c.224A>G	p.Tyr75Cys	p.Y75C	ENST00000249373	NM_005631.4	75	tAc/tGc	0	validated		probablydamaging	
ADAMTS19		inserm.fr	GRCh37	5	128864324	128864324	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2206T																					ENST00000274487.4:c.1264T>G	p.Trp422Gly	p.W422G	ENST00000274487	NM_133638.3	422	Tgg/Ggg	0	not done		benign	
UGGT1		inserm.fr	GRCh37	2	128900781	128900781	+	synonymous_variant	Silent	SNP	T	G	G			CHC1041T																					ENST00000259253.6:c.1833T>G	p.Ala611=	p.A611=	ENST00000259253	NM_020120.3	611	gcT/gcG	0	validated		synonymous	
ZDHHC9		inserm.fr	GRCh37	X	128946788	128946788	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC451T																					ENST00000357166.6:c.683A>C	p.Glu228Ala	p.E228A	ENST00000357166	NM_016032.3	228	gAa/gCa	0	validated		benign	
ADAMTS19		inserm.fr	GRCh37	5	128983479	128983479	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC801T																					ENST00000274487.4:c.1876A>G	p.Thr626Ala	p.T626A	ENST00000274487	NM_133638.3	626	Acc/Gcc	0	not done		possiblydamaging	
LARP1B		inserm.fr	GRCh37	4	129028292	129028292	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC1545T																					ENST00000326639.6:c.814-2A>G		p.X272_splice	ENST00000326639	NM_018078.3			0	not done		damaging	
JUNB		inserm.fr	GRCh37	19	12902995	12902995	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC923T																					ENST00000302754.4:c.410A>G	p.Asp137Gly	p.D137G	ENST00000302754	NM_002229.2	137	gAc/gGc	0	not done		probablydamaging	
BCORL1		inserm.fr	GRCh37	X	129148813	129148813	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC805T																					ENST00000540052.1:c.2065A>G	p.Ile689Val	p.I689V	ENST00000540052	NM_021946.4	689	Atc/Gtc	0	not done		possiblydamaging	
BCORL1		inserm.fr	GRCh37	X	129162646	129162646	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2362T																					ENST00000540052.1:c.4115A>G	p.Gln1372Arg	p.Q1372R	ENST00000540052	NM_021946.4	1372	cAa/cGa	0	validated		probablydamaging	
TPSAB1		inserm.fr	GRCh37	16	1292095	1292095	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1152T																					ENST00000338844.3:c.682C>G	p.Leu228Val	p.L228V	ENST00000338844	NM_003294.3	228	Ctg/Gtg	0	not done		probablydamaging	
DOCK1		inserm.fr	GRCh37	10	129242450	129242450	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1629T																					ENST00000280333.6:c.5257A>G	p.Arg1753Gly	p.R1753G	ENST00000280333	NM_001380.3	1753	Agg/Ggg	0	not done		probablydamaging	
AIFM1		inserm.fr	GRCh37	X	129271128	129271128	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC429T									Valid												ENST00000287295.3:c.1000T>C	p.Phe334Leu	p.F334L	ENST00000287295	NM_004208.3	334	Ttc/Ctc	0	validated		possiblydamaging	
NPS		inserm.fr	GRCh37	10	129350833	129350833	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC805T																					ENST00000398023.1:c.200T>G	p.Val67Gly	p.V67G	ENST00000398023	NM_001030013.1	67	gTg/gGg	0	not done		benign	
LMX1B		inserm.fr	GRCh37	9	129458584	129458584	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC879T																					ENST00000355497.5:c.1075A>G	p.Ile359Val	p.I359V	ENST00000355497	NM_001174146.1	359	Atc/Gtc	0	not done		benign	
DLC1		inserm.fr	GRCh37	8	12946126	12946126	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1754T																					ENST00000276297.4:c.4162G>C	p.Glu1388Gln	p.E1388Q	ENST00000276297	NM_182643.2	1388	Gaa/Caa	0	not done		probablydamaging	
TERT		inserm.fr	GRCh37	5	1295161	1295161	+	5_prime_UTR_variant	5'UTR	SNP	T	G	G			CHC1751T									Valid												ENST00000310581.5:c.-57A>C		*19*	ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295161	1295161	+	5_prime_UTR_variant	5'UTR	SNP	T	G	G			CHC1081T									Valid												ENST00000310581.5:c.-57A>C		*19*	ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295161	1295161	+	5_prime_UTR_variant	5'UTR	SNP	T	G	G			CHC1629T									Valid												ENST00000310581.5:c.-57A>C		*19*	ENST00000310581	NM_198253.2			0	no detection		damaging	
TERT		inserm.fr	GRCh37	5	1295161	1295161	+	5_prime_UTR_variant	5'UTR	SNP	T	G	G			CHC902T									Valid												ENST00000310581.5:c.-57A>C		*19*	ENST00000310581	NM_198253.2			0	no detection		damaging	
MAST1		inserm.fr	GRCh37	19	12951839	12951839	+	synonymous_variant	Silent	SNP	C	G	G			CHC1044T																					ENST00000251472.4:c.207C>G	p.Ser69=	p.S69=	ENST00000251472	NM_014975.2	69	tcC/tcG	0	not done		synonymous	
CHSY3		inserm.fr	GRCh37	5	129521029	129521029	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1743T																					ENST00000305031.4:c.2194A>G	p.Arg732Gly	p.R732G	ENST00000305031	NM_175856.4	732	Aga/Gga	0	not done		probablydamaging	
RBMX2		inserm.fr	GRCh37	X	129546368	129546368	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1041T									Valid												ENST00000305536.6:c.515A>G	p.Lys172Arg	p.K172R	ENST00000305536	NM_016024.2	172	aAa/aGa	0	validated		probablydamaging	
LAMA2		inserm.fr	GRCh37	6	129637290	129637290	+	synonymous_variant	Silent	SNP	T	G	G			CHC1211T																					ENST00000421865.2:c.4032T>G	p.Thr1344=	p.T1344=	ENST00000421865	NM_001079823.1	1344	acT/acG	0	not done		synonymous	
LAMA2		inserm.fr	GRCh37	6	129723587	129723587	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1763T																					ENST00000421865.2:c.5681A>G	p.Glu1894Gly	p.E1894G	ENST00000421865	NM_001079823.1	1894	gAg/gGg	0	not done		probablydamaging	
COL6A5		inserm.fr	GRCh37	3	130103677	130103677	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1182T																					ENST00000265379.6:c.1331A>G	p.His444Arg	p.H444R	ENST00000265379	NM_001278298.1	444	cAc/cGc	0	not done		benign	
COL6A5		inserm.fr	GRCh37	3	130104041	130104041	+	synonymous_variant	Silent	SNP	A	G	G			CHC898T																					ENST00000265379.6:c.1695A>G	p.Arg565=	p.R565=	ENST00000265379	NM_001278298.1	565	agA/agG	0	not done		synonymous	
COL6A5		inserm.fr	GRCh37	3	130119940	130119940	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM567T																					ENST00000265379.6:c.4057T>G	p.Phe1353Val	p.F1353V	ENST00000265379	NM_001278298.1	1353	Ttt/Gtt	0	validated		probablydamaging	
ZBTB44		inserm.fr	GRCh37	11	130130946	130130946	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC798T																					ENST00000525842.1:c.823A>C	p.Thr275Pro	p.T275P	ENST00000525842	NM_014155.4	275	Aca/Cca	0	validated		benign	
RPL12		inserm.fr	GRCh37	9	130213023	130213023	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM723T																					ENST00000361436.5:c.98G>C	p.Gly33Ala	p.G33A	ENST00000361436	NM_000976.3	33	gGc/gCc	0	validated		benign	
ARHGAP36		inserm.fr	GRCh37	X	130218653	130218653	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC2358T																					ENST00000276211.5:c.802C>G	p.Gln268Glu	p.Q268E	ENST00000276211	NM_144967.3	268	Cag/Gag	0	validated		benign	
ADAMTS8		inserm.fr	GRCh37	11	130297768	130297768	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1754T																					ENST00000257359.6:c.414G>C	p.Gln138His	p.Q138H	ENST00000257359	NM_007037.4	138	caG/caC	0	not done		possiblydamaging	
COL6A6		inserm.fr	GRCh37	3	130317222	130317222	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC736T																					ENST00000358511.6:c.4547T>G	p.Val1516Gly	p.V1516G	ENST00000358511	NM_001102608.1	1516	gTt/gGt	0	validated		benign	
PIK3R4		inserm.fr	GRCh37	3	130409474	130409474	+	synonymous_variant	Silent	SNP	A	G	G			CHC1712T																					ENST00000356763.3:c.3123T>C	p.Ile1041=	p.I1041=	ENST00000356763	NM_014602.2	1041	atT/atC	0	not done		synonymous	
IGSF1		inserm.fr	GRCh37	X	130410127	130410127	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1041T																					ENST00000370903.3:c.2719A>C	p.Met907Leu	p.M907L	ENST00000370903	NM_001555.4	907	Atg/Ctg	0	validated		possiblydamaging	
SLC25A25		inserm.fr	GRCh37	9	130869636	130869636	+	synonymous_variant	Silent	SNP	C	G	G			CHC1717T																					ENST00000373068.2:c.1425C>G	p.Pro475=	p.P475=	ENST00000373068	NM_001006641.3	475	ccC/ccG	0	not done		synonymous	
CEP192		inserm.fr	GRCh37	18	13099484	13099484	+	synonymous_variant	Silent	SNP	A	G	G			CHC1053T																					ENST00000506447.1:c.6567A>G	p.Leu2189=	p.L2189=	ENST00000506447	NM_032142.3	2189	ctA/ctG	0	validated		synonymous	
FNIP1		inserm.fr	GRCh37	5	131007203	131007203	+	synonymous_variant	Silent	SNP	A	G	G			CHC303T																					ENST00000510461.1:c.2934T>C	p.Phe978=	p.F978=	ENST00000510461	NM_133372.2	978	ttT/ttC	0	validated		synonymous	
SLC27A4		inserm.fr	GRCh37	9	131122688	131122688	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2115T																					ENST00000300456.4:c.1850A>G	p.Tyr617Cys	p.Y617C	ENST00000300456	NM_005094.3	617	tAt/tGt	0	not done		possiblydamaging	
EPB41L2		inserm.fr	GRCh37	6	131190709	131190709	+	synonymous_variant	Silent	SNP	A	G	G			BCM399T																					ENST00000337057.3:c.2601T>C	p.Cys867=	p.C867=	ENST00000337057	NM_001431.3	867	tgT/tgC	0	validated		synonymous	
MRPL3		inserm.fr	GRCh37	3	131206546	131206546	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC891T																					ENST00000264995.3:c.607T>C	p.Tyr203His	p.Y203H	ENST00000264995	NM_007208.3	203	Tat/Cat	0	not done		possiblydamaging	
ODF2		inserm.fr	GRCh37	9	131256869	131256869	+	synonymous_variant	Silent	SNP	T	G	G			CHC303T																					ENST00000434106.3:c.1833T>G	p.Ala611=	p.A611=	ENST00000434106	NM_153433.1	611	gcT/gcG	0	validated		synonymous	
ACSL6		inserm.fr	GRCh37	5	131324502	131324502	+	synonymous_variant	Silent	SNP	A	G	G			CHC1053T																					ENST00000379264.2:c.648T>C	p.Asn216=	p.N216=	ENST00000379264	NM_001009185.2	216	aaT/aaC	0	validated		synonymous	
WDR34		inserm.fr	GRCh37	9	131397127	131397127	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1079T																					ENST00000372715.2:c.1055T>C	p.Leu352Pro	p.L352P	ENST00000372715	NM_052844.3	352	cTg/cCg	0	not done		probablydamaging	
FOXQ1		inserm.fr	GRCh37	6	1313980	1313980	+	synonymous_variant	Silent	SNP	C	G	G			BCM483T																					ENST00000296839.2:c.1041C>G	p.Pro347=	p.P347=	ENST00000296839	NM_033260.3	347	ccC/ccG	0	validated		synonymous	
FOXQ1		inserm.fr	GRCh37	6	1313980	1313980	+	synonymous_variant	Silent	SNP	C	G	G			BCM545T																					ENST00000296839.2:c.1041C>G	p.Pro347=	p.P347=	ENST00000296839	NM_033260.3	347	ccC/ccG	0	validated		synonymous	
MBNL3		inserm.fr	GRCh37	X	131540323	131540323	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2215T																					ENST00000370853.3:c.275A>C	p.Lys92Thr	p.K92T	ENST00000370853	NM_018388.3	92	aAg/aCg	0	not done		probablydamaging	
C9orf114		inserm.fr	GRCh37	9	131591027	131591027	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1598T																					ENST00000361256.5:c.195G>C	p.Glu65Asp	p.E65D	ENST00000361256	NM_016390.3	65	gaG/gaC	0	not done		benign	
LRRC8A		inserm.fr	GRCh37	9	131671054	131671054	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1745T																					ENST00000259324.5:c.1611C>G	p.Ile537Met	p.I537M	ENST00000259324	NM_001127244.1	537	atC/atG	0	not done		possiblydamaging	
EBF3		inserm.fr	GRCh37	10	131676032	131676032	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			BCM325T																					ENST00000368648.3:c.636G>C	p.Gln212His	p.Q212H	ENST00000368648	NM_001005463.2	212	caG/caC	0	validated		probablydamaging	
PHYHD1		inserm.fr	GRCh37	9	131700043	131700043	+	intron_variant	Intron	SNP	A	G	G			CHC1035T																					ENST00000308941.5:c.435+1119A>G		*145*	ENST00000308941	NM_174933.3			0	validated		benign	
ARHGEF4		inserm.fr	GRCh37	2	131704255	131704255	+	intron_variant	Intron	SNP	A	G	G			BCM723T																					ENST00000326016.5:c.427+47A>G		*143*	ENST00000326016	NM_015320.3			0	validated		synonymous	
SLC22A5		inserm.fr	GRCh37	5	131714086	131714086	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC432T																					ENST00000245407.3:c.410A>G	p.Glu137Gly	p.E137G	ENST00000245407	NM_003060.3	137	gAg/gGg	0	not done		benign	
NUP188		inserm.fr	GRCh37	9	131748926	131748926	+	synonymous_variant	Silent	SNP	C	G	G			BCM791T																					ENST00000372577.2:c.2166C>G	p.Arg722=	p.R722=	ENST00000372577	NM_015354.2	722	cgC/cgG	0	validated		synonymous	
LOC440563		inserm.fr	GRCh37	1	13183359	13183359	+	non_coding_transcript_exon_variant	RNA	SNP	A	G	G			CHC1602T																					ENST00000449855.2:n.757T>C		*253*	ENST00000449855				0	not done		benign	
SFSWAP		inserm.fr	GRCh37	12	132283603	132283603	+	synonymous_variant	Silent	SNP	A	G	G			CHC303T																					ENST00000541286.1:c.2895A>G	p.Glu965=	p.E965=	ENST00000541286	NM_001261411.1	965	gaA/gaG	0	validated		synonymous	
OPCML		inserm.fr	GRCh37	11	132306035	132306035	+	synonymous_variant	Silent	SNP	A	G	G			CHC205T																					ENST00000331898.7:c.882T>C	p.Tyr294=	p.Y294=	ENST00000331898	NM_002545.3	294	taT/taC	0	validated		synonymous	
UBA5		inserm.fr	GRCh37	3	132379419	132379419	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1148T																					ENST00000356232.4:c.38A>G	p.Gln13Arg	p.Q13R	ENST00000356232	NM_024818.3	13	cAg/cGg	0	not done		benign	
UBA5		inserm.fr	GRCh37	3	132387660	132387660	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC303T									Valid												ENST00000356232.4:c.298-2A>G		p.X100_splice	ENST00000356232	NM_024818.3			0	validated		possiblydamaging	
UBA5		inserm.fr	GRCh37	3	132395324	132395324	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC313T									Valid												ENST00000356232.4:c.1169C>G	p.Ser390Cys	p.S390C	ENST00000356232	NM_024818.3	390	tCt/tGt	0	validated		probablydamaging	
NPHP3		inserm.fr	GRCh37	3	132423210	132423210	+	synonymous_variant	Silent	SNP	T	G	G			CHC1741T																					ENST00000337331.5:c.1356A>C	p.Ile452=	p.I452=	ENST00000337331	NM_153240.4	452	atA/atC	0	not done		synonymous	
EP400		inserm.fr	GRCh37	12	132445285	132445285	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC912T																					ENST00000389561.2:c.121C>G	p.Pro41Ala	p.P41A	ENST00000389561	NM_015409.4	41	Ccc/Gcc	0	validated		benign	
PTGES		inserm.fr	GRCh37	9	132501904	132501904	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1717T																					ENST00000340607.4:c.445G>C	p.Ala149Pro	p.A149P	ENST00000340607	NM_004878.4	149	Gcc/Ccc	0	not done		possiblydamaging	
PTGES		inserm.fr	GRCh37	9	132515167	132515167	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	G	G			CHC451T																					ENST00000340607.4:c.125A>C	p.Lys42Thr	p.K42T	ENST00000340607	NM_004878.4	42	aAg/aCg	0	validated		probablydamaging	
EP400		inserm.fr	GRCh37	12	132547093	132547093	+	synonymous_variant	Silent	SNP	A	G	G			CHC1545T																					ENST00000389561.2:c.8181A>G	p.Gln2727=	p.Q2727=	ENST00000389561	NM_015409.4	2727	caA/caG	0	not done		synonymous	
STX7		inserm.fr	GRCh37	6	132785152	132785152	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC051T									Valid												ENST00000367941.2:c.673T>C	p.Ser225Pro	p.S225P	ENST00000367941	NM_003569.2	225	Tca/Cca	0	validated		possiblydamaging	
TAAR2		inserm.fr	GRCh37	6	132938935	132938935	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC097T																					ENST00000367931.1:c.410T>C	p.Val137Ala	p.V137A	ENST00000367931		137	gTg/gCg	0	not done		possiblydamaging	
OC90		inserm.fr	GRCh37	8	133041370	133041370	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM439T																					ENST00000254627.3:c.1088T>C	p.Leu363Pro	p.L363P	ENST00000254627	NM_001080399.2	363	cTt/cCt	0	validated		benign	
KCNQ3		inserm.fr	GRCh37	8	133141634	133141634	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB109T																					ENST00000388996.4:c.2494T>C	p.Tyr832His	p.Y832H	ENST00000388996	NM_004519.3	832	Tac/Cac	0	validated		probablydamaging	
CACNA1A		inserm.fr	GRCh37	19	13318274	13318274	+	synonymous_variant	Silent	SNP	C	G	G			CHC805T																					ENST00000360228.5:c.7374G>C	p.Ser2458=	p.S2458=	ENST00000360228	NM_001127222.1	2458	tcG/tcC	0	not done		synonymous	
KCNQ3		inserm.fr	GRCh37	8	133187705	133187705	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2039Tbis																					ENST00000388996.4:c.928G>C	p.Gly310Arg	p.G310R	ENST00000388996	NM_004519.3	310	Ggc/Cgc	0	not done		probablydamaging	
PXMP2		inserm.fr	GRCh37	12	133272505	133272505	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC614T									Valid												ENST00000317479.3:c.272A>G	p.Tyr91Cys	p.Y91C	ENST00000317479	NM_018663.1	91	tAc/tGc	0	validated		probablydamaging	
PXMP2		inserm.fr	GRCh37	12	133281219	133281219	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC879T																					ENST00000317479.3:c.534C>G	p.Phe178Leu	p.F178L	ENST00000317479	NM_018663.1	178	ttC/ttG	0	not done		probablydamaging	
HMCN2		inserm.fr	GRCh37	9	133308979	133308979	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM321T																					ENST00000428715.1:c.2269C>G	p.Leu757Val	p.L757V	ENST00000428715		757	Ctc/Gtc	0	validated			
TF		inserm.fr	GRCh37	3	133494444	133494444	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1568T																					ENST00000402696.3:c.1855A>G	p.Ile619Val	p.I619V	ENST00000402696	NM_001063.3	619	Ata/Gta	0	not done		benign	
PPP2CA		inserm.fr	GRCh37	5	133537579	133537579	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC961T																					ENST00000481195.1:c.446T>C	p.Leu149Pro	p.L149P	ENST00000481195	NM_002715.2	149	cTt/cCt	0	validated		probablydamaging	
ZNF84		inserm.fr	GRCh37	12	133635038	133635038	+	synonymous_variant	Silent	SNP	T	G	G			BCM269T																					ENST00000327668.7:c.1737T>G	p.Ala579=	p.A579=	ENST00000327668		579	gcT/gcG	0	validated		synonymous	
TMEM71		inserm.fr	GRCh37	8	133764082	133764082	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1715T																					ENST00000356838.3:c.263T>C	p.Ile88Thr	p.I88T	ENST00000356838	NM_144649.2	88	aTa/aCa	0	not done		probablydamaging	
ZNF268		inserm.fr	GRCh37	12	133768187	133768187	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC306T									Valid												ENST00000536435.2:c.347A>G	p.Asn116Ser	p.N116S	ENST00000536435	NM_003415.2	116	aAc/aGc	0	validated		possiblydamaging	
ZNF268		inserm.fr	GRCh37	12	133780516	133780516	+	synonymous_variant	Silent	SNP	A	G	G			CHC465T																					ENST00000536435.2:c.2244A>G	p.Gly748=	p.G748=	ENST00000536435	NM_003415.2	748	ggA/ggG	0	validated		synonymous	
PHF20L1		inserm.fr	GRCh37	8	133823289	133823289	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			BCM617T																					ENST00000395386.2:c.848-2A>G		p.X283_splice	ENST00000395386	NM_016018.4			0	validated		damaging	
PHF20L1		inserm.fr	GRCh37	8	133851653	133851653	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC902T																					ENST00000395386.2:c.2213A>G	p.Tyr738Cys	p.Y738C	ENST00000395386	NM_016018.4	738	tAt/tGt	0	not done		probablydamaging	
PHF20L1		inserm.fr	GRCh37	8	133851755	133851755	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1742T																					ENST00000395386.2:c.2315A>G	p.His772Arg	p.H772R	ENST00000395386	NM_016018.4	772	cAt/cGt	0	not done		probablydamaging	
TG		inserm.fr	GRCh37	8	133885380	133885380	+	synonymous_variant	Silent	SNP	T	G	G			CHC798T																					ENST00000220616.4:c.552T>G	p.Ser184=	p.S184=	ENST00000220616	NM_003235.4	184	tcT/tcG	0	validated		synonymous	
PHF15		inserm.fr	GRCh37	5	133898043	133898043	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1712T																					ENST00000395003.1:c.838C>G	p.Leu280Val	p.L280V	ENST00000395003	NM_015288.4	280	Cta/Gta	0	not done		probablydamaging	
LAMC3		inserm.fr	GRCh37	9	133943529	133943529	+	synonymous_variant	Silent	SNP	A	G	G			CHC2110Tbis																					ENST00000361069.4:c.2658A>G	p.Gln886=	p.Q886=	ENST00000361069	NM_006059.3	886	caA/caG	0	not done		synonymous	
TG		inserm.fr	GRCh37	8	133973301	133973301	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC912T																					ENST00000220616.4:c.5450A>G	p.Gln1817Arg	p.Q1817R	ENST00000220616	NM_003235.4	1817	cAg/cGg	0	validated		benign	
NUP214		inserm.fr	GRCh37	9	134019793	134019793	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2141T																					ENST00000359428.5:c.1421C>G	p.Pro474Arg	p.P474R	ENST00000359428	NM_005085.3	474	cCt/cGt	0	not done		possiblydamaging	
PCDH10		inserm.fr	GRCh37	4	134072010	134072010	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000264360.5:c.715C>G	p.Arg239Gly	p.R239G	ENST00000264360	NM_032961.1	239	Cga/Gga	0	not done		possiblydamaging	
PCDH10		inserm.fr	GRCh37	4	134072077	134072077	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1028T																					ENST00000264360.5:c.782A>G	p.Glu261Gly	p.E261G	ENST00000264360	NM_032961.1	261	gAg/gGg	0	not done		probablydamaging	
AMOTL2		inserm.fr	GRCh37	3	134090136	134090136	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM501T																					ENST00000249883.5:c.140G>C	p.Gly47Ala	p.G47A	ENST00000249883	NM_016201.3	47	gGt/gCt	0	validated		benign	
ACAD8		inserm.fr	GRCh37	11	134123597	134123597	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC805T																					ENST00000281182.4:c.103A>G	p.Ile35Val	p.I35V	ENST00000281182	NM_014384.2	35	Atc/Gtc	0	not done		benign	
CEP63		inserm.fr	GRCh37	3	134266251	134266251	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1152T																					ENST00000337090.3:c.1004A>G	p.Gln335Arg	p.Q335R	ENST00000337090		335	cAg/cGg	0	not done		benign	
CEP63		inserm.fr	GRCh37	3	134280329	134280329	+	synonymous_variant	Silent	SNP	A	G	G			CHC2099T																					ENST00000337090.3:c.2064A>G	p.Leu688=	p.L688=	ENST00000337090		688	ctA/ctG	0	not done		synonymous	
BPGM		inserm.fr	GRCh37	7	134346791	134346791	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC258T																					ENST00000393132.2:c.532T>G	p.Leu178Val	p.L178V	ENST00000393132	NM_199186.2	178	Tta/Gta	0	validated		benign	
PRRC2B		inserm.fr	GRCh37	9	134351427	134351427	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM617T																					ENST00000357304.4:c.3911C>G	p.Pro1304Arg	p.P1304R	ENST00000357304	NM_013318.3	1304	cCc/cGc	0	validated		probablydamaging	
PRRC2B		inserm.fr	GRCh37	9	134358138	134358138	+	synonymous_variant	Silent	SNP	A	G	G			CHC1763T																					ENST00000357304.4:c.5217A>G	p.Pro1739=	p.P1739=	ENST00000357304	NM_013318.3	1739	ccA/ccG	0	not done		synonymous	
PRRC2B		inserm.fr	GRCh37	9	134367604	134367604	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC097T																					ENST00000357304.4:c.6430A>G	p.Asn2144Asp	p.N2144D	ENST00000357304	NM_013318.3	2144	Aat/Gat	0	not done		possiblydamaging	
BTBD10		inserm.fr	GRCh37	11	13438759	13438759	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1751T																					ENST00000278174.5:c.633A>C	p.Lys211Asn	p.K211N	ENST00000278174	NM_032320.5	211	aaA/aaC	0	not done		probablydamaging	
RAPGEF1		inserm.fr	GRCh37	9	134501766	134501766	+	synonymous_variant	Silent	SNP	A	G	G			CHC909T																					ENST00000372190.3:c.1248T>C	p.Ser416=	p.S416=	ENST00000372190	NM_198679.1	416	tcT/tcC	0	not done		synonymous	
TTC40		inserm.fr	GRCh37	10	134680920	134680920	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC432T																					ENST00000368586.5:c.4702G>C	p.Val1568Leu	p.V1568L	ENST00000368586	NM_001200049.2	1568	Gtc/Ctc	0	not done		benign	
NEUROG1		inserm.fr	GRCh37	5	134870906	134870906	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2200T																					ENST00000314744.4:c.475G>C	p.Gly159Arg	p.G159R	ENST00000314744	NM_006161.2	159	Ggt/Cgt	0	not done		possiblydamaging	
KNDC1		inserm.fr	GRCh37	10	135012579	135012579	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC805T																					ENST00000304613.3:c.2567A>G	p.Asp856Gly	p.D856G	ENST00000304613		856	gAt/gGt	0	not done		benign	
KNDC1		inserm.fr	GRCh37	10	135033521	135033521	+	synonymous_variant	Silent	SNP	C	G	G			CHC912T																					ENST00000304613.3:c.4923C>G	p.Thr1641=	p.T1641=	ENST00000304613		1641	acC/acG	0	validated		synonymous	
NUP205		inserm.fr	GRCh37	7	135279433	135279433	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1061T									Valid												ENST00000285968.6:c.1969C>G	p.Pro657Ala	p.P657A	ENST00000285968	NM_015135.2	657	Cct/Gct	0	validated		probablydamaging	
NUP205		inserm.fr	GRCh37	7	135287699	135287699	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC429T									Valid												ENST00000285968.6:c.2659A>G	p.Asn887Asp	p.N887D	ENST00000285968	NM_015135.2	887	Aat/Gat	0	validated		probablydamaging	
MAP7D3		inserm.fr	GRCh37	X	135303028	135303028	+	synonymous_variant	Silent	SNP	A	G	G			CHC789T																					ENST00000316077.9:c.2382T>C	p.Gly794=	p.G794=	ENST00000316077	NM_024597.3	794	ggT/ggC	0	not done		synonymous	
TMEM163		inserm.fr	GRCh37	2	135308184	135308184	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1708T																					ENST00000281924.6:c.415T>C	p.Tyr139His	p.Y139H	ENST00000281924	NM_030923.4	139	Tac/Cac	0	not done		probablydamaging	
TGFBI		inserm.fr	GRCh37	5	135364853	135364853	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM783T																					ENST00000442011.2:c.109A>G	p.Ser37Gly	p.S37G	ENST00000442011	NM_000358.2	37	Agc/Ggc	0	validated		possiblydamaging	
TGFBI		inserm.fr	GRCh37	5	135388781	135388781	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM339T																					ENST00000442011.2:c.1099A>G	p.Ile367Val	p.I367V	ENST00000442011	NM_000358.2	367	Att/Gtt	0	validated		benign	
GPR112		inserm.fr	GRCh37	X	135453554	135453554	+	synonymous_variant	Silent	SNP	A	G	G			CHC1732T																					ENST00000394143.1:c.7464A>G	p.Glu2488=	p.E2488=	ENST00000394143	NM_153834.3	2488	gaA/gaG	0	validated		synonymous	
ANKRD65		inserm.fr	GRCh37	1	1354798	1354798	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM257T																					ENST00000537107.1:c.882G>C	p.Glu294Asp	p.E294D	ENST00000537107	NM_001145210.2	294	gaG/gaC	0	validated		benign	
ZFAT		inserm.fr	GRCh37	8	135622856	135622856	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC434T																					ENST00000377838.3:c.491A>C	p.Asp164Ala	p.D164A	ENST00000377838	NM_020863.3	164	gAt/gCt	0	validated		probablydamaging	
TSC1		inserm.fr	GRCh37	9	135787761	135787761	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM783T																					ENST00000298552.3:c.821G>C	p.Gly274Ala	p.G274A	ENST00000298552	NM_001162426.1	274	gGc/gCc	0	validated		probablydamaging	
AHI1		inserm.fr	GRCh37	6	135811821	135811821	+	synonymous_variant	Silent	SNP	A	G	G			CHC884T																					ENST00000367800.4:c.75T>C	p.Asp25=	p.D25=	ENST00000367800	NM_001134830.1	25	gaT/gaC	0	validated		synonymous	
GTF3C5		inserm.fr	GRCh37	9	135929874	135929874	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	G	G			BCM275T									Valid												ENST00000372108.5:c.1068A>G	p.Thr356=	p.T356=	ENST00000372108	NM_001122823.1	356	acA/acG	0	validated		damaging	
RBMX		inserm.fr	GRCh37	X	135954467	135954467	+	downstream_gene_variant	3'Flank	SNP	A	G	G			CHC2112T																								ENST00000320676	NM_002139.3			0	not done			
ZRANB3		inserm.fr	GRCh37	2	135960509	135960509	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC314T									Valid												ENST00000264159.6:c.3034G>C	p.Gly1012Arg	p.G1012R	ENST00000264159	NM_032143.2	1012	Ggg/Cgg	0	validated		possiblydamaging	
SURF1		inserm.fr	GRCh37	9	136218963	136218963	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T									Valid												ENST00000371974.3:c.786A>C	p.Gln262His	p.Q262H	ENST00000371974	NM_001280787.1	262	caA/caC	0	validated		probablydamaging	
SURF2		inserm.fr	GRCh37	9	136227284	136227284	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC794T									Valid												ENST00000371964.4:c.661C>G	p.Arg221Gly	p.R221G	ENST00000371964	NM_001278928.1	221	Cga/Gga	0	validated		probablydamaging	
STAG1		inserm.fr	GRCh37	3	136349715	136349715	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1754T																					ENST00000383202.2:c.26T>C	p.Leu9Ser	p.L9S	ENST00000383202	NM_005862.2	9	tTa/tCa	0	not done		possiblydamaging	
SPOCK1		inserm.fr	GRCh37	5	136403414	136403414	+	synonymous_variant	Silent	SNP	T	G	G			CHC1534T																					ENST00000394945.1:c.579A>C	p.Ala193=	p.A193=	ENST00000394945	NM_004598.3	193	gcA/gcC	0	validated		synonymous	
PRPF18		inserm.fr	GRCh37	10	13653636	13653636	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC961T																					ENST00000378572.3:c.532A>G	p.Lys178Glu	p.K178E	ENST00000378572	NM_003675.3	178	Aaa/Gaa	0	validated		benign	
CXCR4		inserm.fr	GRCh37	2	136873324	136873324	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1747T																					ENST00000241393.3:c.174G>C	p.Leu58Phe	p.L58F	ENST00000241393	NM_003467.2	58	ttG/ttC	0	not done		probablydamaging	
CNTN6		inserm.fr	GRCh37	3	1369155	1369155	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1715T																					ENST00000446702.2:c.1098A>G	p.Ile366Met	p.I366M	ENST00000446702		366	atA/atG	0	not done		possiblydamaging	
GRIN2B		inserm.fr	GRCh37	12	13716331	13716331	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC155T									Valid												ENST00000609686.1:c.3841T>C	p.Tyr1281His	p.Y1281H	ENST00000609686	NM_000834.3	1281	Tac/Cac	0	validated		probablydamaging	
DGKI		inserm.fr	GRCh37	7	137257543	137257543	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1148T																					ENST00000288490.5:c.1803G>C	p.Lys601Asn	p.K601N	ENST00000288490	NM_004717.2	601	aaG/aaC	0	not done		probablydamaging	
FAR1		inserm.fr	GRCh37	11	13743393	13743393	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC736T									Valid												ENST00000354817.3:c.1244C>G	p.Pro415Arg	p.P415R	ENST00000354817	NM_032228.5	415	cCt/cGt	0	validated		possiblydamaging	
OFD1		inserm.fr	GRCh37	X	13764569	13764569	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC892T																					ENST00000340096.6:c.649C>G	p.Gln217Glu	p.Q217E	ENST00000340096	NM_003611.2	217	Caa/Gaa	0	not done		benign	
FCN2		inserm.fr	GRCh37	9	137779218	137779218	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000291744.6:c.899A>G	p.Asn300Ser	p.N300S	ENST00000291744	NM_004108.2	300	aAt/aGt	0	validated		benign	
EGR1		inserm.fr	GRCh37	5	137803136	137803136	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1207T																					ENST00000239938.4:c.998C>G	p.Pro333Arg	p.P333R	ENST00000239938	NM_001964.2	333	cCc/cGc	0	not done		probablydamaging	
HSPA9		inserm.fr	GRCh37	5	137892479	137892479	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC465T									Valid												ENST00000297185.3:c.1805A>C	p.Gln602Pro	p.Q602P	ENST00000297185	NM_004134.6	602	cAa/cCa	0	validated		probablydamaging	
ESYT3		inserm.fr	GRCh37	3	138153690	138153690	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1598T																					ENST00000389567.4:c.50C>G	p.Ala17Gly	p.A17G	ENST00000389567	NM_031913.3	17	gCc/gGc	0	not done		benign	
DNAH5		inserm.fr	GRCh37	5	13829773	13829773	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM567T																					ENST00000265104.4:c.6290T>C	p.Leu2097Ser	p.L2097S	ENST00000265104	NM_001369.2	2097	tTg/tCg	0	validated		probablydamaging	
FAIM		inserm.fr	GRCh37	3	138340296	138340296	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC432T																					ENST00000338446.4:c.128A>G	p.Asp43Gly	p.D43G	ENST00000338446	NM_001033030.1	43	gAt/gGt	0	not done		benign	
KIAA1549		inserm.fr	GRCh37	7	138566317	138566317	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1746T																					ENST00000422774.1:c.4046G>C	p.Ser1349Thr	p.S1349T	ENST00000422774		1349	aGt/aCt	0	not done		probablydamaging	
KIAA1549		inserm.fr	GRCh37	7	138583871	138583871	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2141T																					ENST00000422774.1:c.3677A>C	p.Asn1226Thr	p.N1226T	ENST00000422774		1226	aAt/aCt	0	not done		probablydamaging	
KIAA1549		inserm.fr	GRCh37	7	138603185	138603185	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1763T																					ENST00000422774.1:c.1187A>C	p.Asn396Thr	p.N396T	ENST00000422774		396	aAt/aCt	0	not done		benign	
KIAA1244		inserm.fr	GRCh37	6	138608242	138608242	+	synonymous_variant	Silent	SNP	C	G	G			CHC322T																					ENST00000251691.4:c.2817C>G	p.Ala939=	p.A939=	ENST00000251691	NM_020340.4	939	gcC/gcG	0	validated		synonymous	
SEL1L2		inserm.fr	GRCh37	20	13866970	13866970	+	synonymous_variant	Silent	SNP	A	G	G			CHC703T																					ENST00000378072.5:c.864T>C	p.Tyr288=	p.Y288=	ENST00000378072	NM_001271539.1	288	taT/taC	0	not done		synonymous	
YJU2B		inserm.fr	GRCh37	19	13870033	13870033	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM337T																					ENST00000586600.1:c.520A>G	p.Ser174Gly	p.S174G	ENST00000586600		174	Agc/Ggc	0	validated		benign	
CAMSAP1		inserm.fr	GRCh37	9	138703410	138703410	+	synonymous_variant	Silent	SNP	A	G	G			CHC1061T																					ENST00000389532.4:c.4554T>C	p.Asp1518=	p.D1518=	ENST00000389532	NM_015447.3	1518	gaT/gaC	0	validated		synonymous	
DNAH5		inserm.fr	GRCh37	5	13876914	13876914	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1611T																					ENST00000265104.4:c.3275T>C	p.Ile1092Thr	p.I1092T	ENST00000265104	NM_001369.2	1092	aTa/aCa	0	not done		benign	
TTC26		inserm.fr	GRCh37	7	138819492	138819492	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000464848.1:c.95A>G	p.Glu32Gly	p.E32G	ENST00000464848	NM_001287513.1	32	gAg/gGg	0	not done		benign	
TTC26		inserm.fr	GRCh37	7	138863033	138863033	+	stop_gained	Nonsense_Mutation	SNP	C	G	G			CHC1602T																					ENST00000464848.1:c.1143C>G	p.Tyr381Ter	p.Y381*	ENST00000464848	NM_001287513.1	381	taC/taG	0	not done		damaging	
CXorf66		inserm.fr	GRCh37	X	139038369	139038369	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2048T																					ENST00000370540.1:c.772T>C	p.Ser258Pro	p.S258P	ENST00000370540	NM_001013403.2	258	Tcc/Ccc	0	not done		benign	
CXXC5		inserm.fr	GRCh37	5	139060510	139060510	+	synonymous_variant	Silent	SNP	A	G	G			CHC1097T																					ENST00000302517.3:c.402A>G	p.Ser134=	p.S134=	ENST00000302517	NM_016463.7	134	tcA/tcG	0	validated		synonymous	
COPB2		inserm.fr	GRCh37	3	139085480	139085480	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1201T																					ENST00000333188.5:c.1814T>C	p.Met605Thr	p.M605T	ENST00000333188	NM_004766.2	605	aTg/aCg	0	not done		benign	
CCDC28A		inserm.fr	GRCh37	6	139113939	139113939	+	stop_retained_variant	Silent	SNP	A	G	G			CHC736T																					ENST00000332797.6:c.824A>G	p.Ter275=	p.*275=	ENST00000332797	NM_015439.2	275	tAa/tGa	0	validated		synonymous	
NRG2		inserm.fr	GRCh37	5	139232544	139232544	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2358T																					ENST00000361474.1:c.1361T>C	p.Leu454Ser	p.L454S	ENST00000361474	NM_004883.2	454	tTg/tCg	0	validated		probablydamaging	
PMPCA		inserm.fr	GRCh37	9	139307314	139307314	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC923T																					ENST00000371717.3:c.407A>G	p.His136Arg	p.H136R	ENST00000371717	NM_015160.1	136	cAt/cGt	0	not done		benign	
ANKHD1		inserm.fr	GRCh37	5	139889315	139889315	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1741T																					ENST00000297183.6:c.3859C>G	p.Pro1287Ala	p.P1287A	ENST00000297183	NM_020690.5	1287	Cct/Gct	0	not done		probablydamaging	
CLIC3		inserm.fr	GRCh37	9	139890105	139890105	+	synonymous_variant	Silent	SNP	C	G	G			CHC304T																					ENST00000494426.1:c.138G>C	p.Thr46=	p.T46=	ENST00000494426	NM_004669.2	46	acG/acC	0	validated		synonymous	
ABCA2		inserm.fr	GRCh37	9	139910777	139910777	+	synonymous_variant	Silent	SNP	A	G	G			CHC1152T																					ENST00000341511.6:c.3070T>C	p.Leu1024=	p.L1024=	ENST00000341511	NM_212533.2	1024	Ttg/Ctg	0	not done		synonymous	
ABCA2		inserm.fr	GRCh37	9	139912290	139912290	+	synonymous_variant	Silent	SNP	C	G	G			CHC1704T																					ENST00000341511.6:c.2160G>C	p.Val720=	p.V720=	ENST00000341511	NM_212533.2	720	gtG/gtC	0	not done		synonymous	
ABCA2		inserm.fr	GRCh37	9	139916377	139916377	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM375T																					ENST00000341511.6:c.644G>C	p.Ser215Thr	p.S215T	ENST00000341511	NM_212533.2	215	aGc/aCc	0	validated		benign	
SLC35A4		inserm.fr	GRCh37	5	139946946	139946946	+	synonymous_variant	Silent	SNP	A	G	G			CHC1207T																					ENST00000514199.1:c.192A>G	p.Leu64=	p.L64=	ENST00000514199		64	ttA/ttG	0	not done		synonymous	
MAN1B1		inserm.fr	GRCh37	9	139992294	139992294	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC051T																					ENST00000371589.4:c.635T>G	p.Val212Gly	p.V212G	ENST00000371589	NM_016219.4	212	gTg/gGg	0	validated		benign	
MAN1B1		inserm.fr	GRCh37	9	140003024	140003024	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC433T									Valid												ENST00000371589.4:c.2081C>G	p.Pro694Arg	p.P694R	ENST00000371589	NM_016219.4	694	cCt/cGt	0	validated		probablydamaging	
LRRC26		inserm.fr	GRCh37	9	140064025	140064025	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1207T																					ENST00000371542.3:c.371T>C	p.Leu124Pro	p.L124P	ENST00000371542	NM_001013653.2	124	cTg/cCg	0	not done		probablydamaging	
ANAPC2		inserm.fr	GRCh37	9	140079425	140079425	+	synonymous_variant	Silent	SNP	T	G	G			CHC304T																					ENST00000323927.2:c.988A>C	p.Arg330=	p.R330=	ENST00000323927	NM_013366.3	330	Agg/Cgg	0	validated		synonymous	
C9orf169		inserm.fr	GRCh37	9	140120147	140120147	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1152T																					ENST00000359069.2:c.74A>G	p.Asp25Gly	p.D25G	ENST00000359069	NM_199001.2	25	gAc/gGc	0	validated		probablydamaging	
SLC34A3		inserm.fr	GRCh37	9	140127294	140127294	+	synonymous_variant	Silent	SNP	A	G	G			CHC306T																					ENST00000538474.1:c.363A>G	p.Gly121=	p.G121=	ENST00000538474	NM_001177317.1	121	ggA/ggG	0	validated		synonymous	
PCDHA11		inserm.fr	GRCh37	5	140250205	140250205	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC898T																					ENST00000398640.2:c.1517A>G	p.Tyr506Cys	p.Y506C	ENST00000398640	NM_018902.3	506	tAc/tGc	0	not done		probablydamaging	
PCDHA12		inserm.fr	GRCh37	5	140255946	140255946	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1720T																					ENST00000398631.2:c.889C>G	p.Pro297Ala	p.P297A	ENST00000398631	NM_018903.2	297	Cca/Gca	0	not done		benign	
PCDHA13		inserm.fr	GRCh37	5	140262576	140262576	+	synonymous_variant	Silent	SNP	A	G	G			CHC1534T																					ENST00000289272.2:c.723A>G	p.Glu241=	p.E241=	ENST00000289272	NM_018904.2	241	gaA/gaG	0	validated		synonymous	
CLSTN2		inserm.fr	GRCh37	3	140277644	140277644	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1185T																					ENST00000458420.3:c.1986C>G	p.Ile662Met	p.I662M	ENST00000458420	NM_022131.2	662	atC/atG	0	not done		possiblydamaging	
NAA15		inserm.fr	GRCh37	4	140281044	140281044	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC155T									Valid												ENST00000296543.5:c.1405A>G	p.Thr469Ala	p.T469A	ENST00000296543	NM_057175.3	469	Aca/Gca	0	validated		probablydamaging	
PCDHAC2		inserm.fr	GRCh37	5	140346593	140346593	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1598T																					ENST00000289269.5:c.242A>G	p.His81Arg	p.H81R	ENST00000289269	NM_018899.5	81	cAt/cGt	0	not done		probablydamaging	
ATAD3C		inserm.fr	GRCh37	1	1403762	1403762	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			BCM529T									Valid												ENST00000378785.2:c.1090-2A>G		p.X364_splice	ENST00000378785	NM_001039211.2			0	validated		damaging	
TRIM42		inserm.fr	GRCh37	3	140401829	140401829	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM375T																					ENST00000286349.3:c.867C>G	p.Ile289Met	p.I289M	ENST00000286349	NM_152616.4	289	atC/atG	0	validated		benign	
PCDHB1		inserm.fr	GRCh37	5	140433406	140433406	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC051T																					ENST00000306549.3:c.2351C>G	p.Thr784Ser	p.T784S	ENST00000306549	NM_013340.2	784	aCt/aGt	0	validated		benign	
SETD7		inserm.fr	GRCh37	4	140439169	140439169	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC703T																					ENST00000274031.3:c.790G>C	p.Gly264Arg	p.G264R	ENST00000274031	NM_030648.2	264	Ggg/Cgg	0	validated		probablydamaging	
PCDHB4		inserm.fr	GRCh37	5	140502830	140502830	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1081T																					ENST00000194152.1:c.1250A>G	p.Asn417Ser	p.N417S	ENST00000194152	NM_018938.2	417	aAc/aGc	0	validated		probablydamaging	
ARRDC1		inserm.fr	GRCh37	9	140508854	140508854	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC205T									Valid												ENST00000371421.4:c.722A>G	p.Gln241Arg	p.Q241R	ENST00000371421	NM_152285.2	241	cAg/cGg	0	validated		probablydamaging	
PCDHB5		inserm.fr	GRCh37	5	140515957	140515957	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC303T									Valid												ENST00000231134.5:c.941A>G	p.Tyr314Cys	p.Y314C	ENST00000231134	NM_015669.2	314	tAt/tGt	0	validated		probablydamaging	
PCDHB5		inserm.fr	GRCh37	5	140516834	140516834	+	synonymous_variant	Silent	SNP	C	G	G			CHC326T																					ENST00000231134.5:c.1818C>G	p.Leu606=	p.L606=	ENST00000231134	NM_015669.2	606	ctC/ctG	0	validated		synonymous	
PCDHB9		inserm.fr	GRCh37	5	140567930	140567930	+	non_coding_transcript_exon_variant	RNA	SNP	A	G	G			CHC1556T																					ENST00000316105.4:n.1038A>G		*346*	ENST00000316105				0	not done		synonymous	
PCDHB10		inserm.fr	GRCh37	5	140574103	140574103	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC361TA																					ENST00000239446.4:c.1978T>G	p.Leu660Val	p.L660V	ENST00000239446	NM_018930.3	660	Ttg/Gtg	0	validated		benign	
PCDHB11		inserm.fr	GRCh37	5	140580511	140580511	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM375T																					ENST00000354757.3:c.1164C>G	p.Asp388Glu	p.D388E	ENST00000354757	NM_018931.2	388	gaC/gaG	0	validated		benign	
PCDHGA3		inserm.fr	GRCh37	5	140724839	140724839	+	synonymous_variant	Silent	SNP	A	G	G			BCM399T																					ENST00000253812.6:c.1239A>G	p.Glu413=	p.E413=	ENST00000253812	NM_018916.3	413	gaA/gaG	0	validated		synonymous	
PCDHGA7		inserm.fr	GRCh37	5	140764130	140764130	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM275T																					ENST00000518325.1:c.1664A>G	p.Gln555Arg	p.Q555R	ENST00000518325	NM_018920.2	555	cAg/cGg	0	validated		benign	
PCDHGB4		inserm.fr	GRCh37	5	140769822	140769822	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC432T																					ENST00000519479.1:c.2371A>G	p.Asn791Asp	p.N791D	ENST00000519479	NM_003736.2	791	Aat/Gat	0	not done		benign	
MAML3		inserm.fr	GRCh37	4	140811408	140811408	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC609T																					ENST00000509479.2:c.1182A>C	p.Leu394Phe	p.L394F	ENST00000509479	NM_018717.4	394	ttA/ttC	0	validated		possiblydamaging	
PCDHGA12		inserm.fr	GRCh37	5	140811533	140811533	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC302T																					ENST00000252085.3:c.1207A>G	p.Ser403Gly	p.S403G	ENST00000252085	NM_003735.2	403	Agt/Ggt	0	validated		benign	
PCDHGA12		inserm.fr	GRCh37	5	140812528	140812528	+	synonymous_variant	Silent	SNP	A	G	G			CHC1052T																					ENST00000252085.3:c.2202A>G	p.Gly734=	p.G734=	ENST00000252085	NM_003735.2	734	ggA/ggG	0	validated		synonymous	
PCDHGC3		inserm.fr	GRCh37	5	140857777	140857777	+	synonymous_variant	Silent	SNP	A	G	G			BCM375T																					ENST00000308177.3:c.2094A>G	p.Leu698=	p.L698=	ENST00000308177	NM_002588.2	698	ctA/ctG	0	validated		synonymous	
CACNA1B		inserm.fr	GRCh37	9	140901261	140901261	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1183T																					ENST00000371372.1:c.2017A>G	p.Ile673Val	p.I673V	ENST00000371372	NM_001243812.1	673	Atc/Gtc	0	not done		probablydamaging	
MAGEC1		inserm.fr	GRCh37	X	140995423	140995423	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM397T																					ENST00000285879.4:c.2233A>G	p.Ser745Gly	p.S745G	ENST00000285879	NM_005462.4	745	Agt/Ggt	0	validated		benign	
ACPL2		inserm.fr	GRCh37	3	141011573	141011573	+	synonymous_variant	Silent	SNP	A	G	G			BCM723T																					ENST00000286353.4:c.969A>G	p.Val323=	p.V323=	ENST00000286353	NM_001037172.1	323	gtA/gtG	0	validated		synonymous	
CACNA1B		inserm.fr	GRCh37	9	141016093	141016093	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC889T																					ENST00000371372.1:c.6662C>G	p.Pro2221Arg	p.P2221R	ENST00000371372	NM_001243812.1	2221	cCt/cGt	0	not done		probablydamaging	
FCHSD1		inserm.fr	GRCh37	5	141022656	141022656	+	splice_acceptor_variant	Splice_Site	SNP	C	G	G			BCM723T																					ENST00000435817.2:c.1864-1G>C		p.X622_splice	ENST00000435817	NM_033449.2			0	validated		damaging	
ARAP3		inserm.fr	GRCh37	5	141039002	141039002	+	synonymous_variant	Silent	SNP	A	G	G			CHC2358T																					ENST00000239440.4:c.3309T>C	p.Ser1103=	p.S1103=	ENST00000239440	NM_022481.5	1103	agT/agC	0	validated		synonymous	
LRP1B		inserm.fr	GRCh37	2	141200113	141200113	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC433T									Valid												ENST00000389484.3:c.10374G>C	p.Glu3458Asp	p.E3458D	ENST00000389484	NM_018557.2	3458	gaG/gaC	0	validated		possiblydamaging	
LRP1B		inserm.fr	GRCh37	2	141294169	141294169	+	synonymous_variant	Silent	SNP	A	G	G			CHC2127T																					ENST00000389484.3:c.7623T>C	p.Asp2541=	p.D2541=	ENST00000389484	NM_018557.2	2541	gaT/gaC	0	not done		synonymous	
KIAA0141		inserm.fr	GRCh37	5	141313906	141313906	+	synonymous_variant	Silent	SNP	T	G	G			BCM671T																					ENST00000432126.2:c.999T>G	p.Pro333=	p.P333=	ENST00000432126	NM_014773.3	333	ccT/ccG	0	validated		synonymous	
KIAA0141		inserm.fr	GRCh37	5	141316797	141316797	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC097T																					ENST00000432126.2:c.1184A>G	p.Tyr395Cys	p.Y395C	ENST00000432126	NM_014773.3	395	tAt/tGt	0	not done		probablydamaging	
CD83		inserm.fr	GRCh37	6	14131941	14131941	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1725T																					ENST00000379153.3:c.344A>G	p.Gln115Arg	p.Q115R	ENST00000379153	NM_001040280.1	115	cAg/cGg	0	not done		probablydamaging	
RASA2		inserm.fr	GRCh37	3	141328797	141328797	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC469T									Valid												ENST00000286364.3:c.2408C>G	p.Ser803Cys	p.S803C	ENST00000286364		803	tCt/tGt	0	validated		probablydamaging	
UCP1		inserm.fr	GRCh37	4	141483383	141483383	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM483T																					ENST00000262999.3:c.773T>C	p.Val258Ala	p.V258A	ENST00000262999	NM_021833.4	258	gTg/gCg	0	validated		benign	
TAS2R5		inserm.fr	GRCh37	7	141490910	141490910	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1081T																					ENST00000247883.4:c.749A>G	p.Asp250Gly	p.D250G	ENST00000247883	NM_018980.2	250	gAt/gGt	0	validated		benign	
EIF2C2		inserm.fr	GRCh37	8	141569520	141569520	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1602T																					ENST00000220592.5:c.764G>C	p.Arg255Thr	p.R255T	ENST00000220592	NM_012154.3	255	aGg/aCg	0	not done		probablydamaging	
PALM3		inserm.fr	GRCh37	19	14166213	14166213	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCB151T																					ENST00000340790.4:c.379A>C	p.Ile127Leu	p.I127L	ENST00000340790	NM_001145028.1	127	Att/Ctt	0	validated		benign	
TAS2R38		inserm.fr	GRCh37	7	141672636	141672636	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC796T									Valid												ENST00000547270.1:c.854T>C	p.Ile285Thr	p.I285T	ENST00000547270	NM_176817.4	285	aTa/aCa	0	validated		possiblydamaging	
LRP1B		inserm.fr	GRCh37	2	141773310	141773310	+	synonymous_variant	Silent	SNP	A	G	G			CHC1209T																					ENST00000389484.3:c.2145T>C	p.Tyr715=	p.Y715=	ENST00000389484	NM_018557.2	715	taT/taC	0	not done		synonymous	
ATR		inserm.fr	GRCh37	3	142231106	142231106	+	synonymous_variant	Silent	SNP	T	G	G			CHC1211T																					ENST00000350721.4:c.4848A>C	p.Ser1616=	p.S1616=	ENST00000350721	NM_001184.3	1616	tcA/tcC	0	not done		synonymous	
SLC45A4		inserm.fr	GRCh37	8	142264097	142264097	+	upstream_gene_variant	5'Flank	SNP	A	G	G			BCB109T																								ENST00000517658				0	validated		synonymous	
GPR20		inserm.fr	GRCh37	8	142367410	142367410	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1591T																					ENST00000377741.3:c.614T>C	p.Phe205Ser	p.F205S	ENST00000377741	NM_005293.2	205	tTc/tCc	0	not done		possiblydamaging	
VTA1		inserm.fr	GRCh37	6	142468439	142468439	+	synonymous_variant	Silent	SNP	A	G	G			CHC155T																					ENST00000367630.4:c.15A>G	p.Ala5=	p.A5=	ENST00000367630	NM_016485.3	5	gcA/gcG	0	validated		synonymous	
PCOLCE2		inserm.fr	GRCh37	3	142548540	142548540	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1746T																					ENST00000295992.3:c.859A>C	p.Thr287Pro	p.T287P	ENST00000295992	NM_013363.3	287	Acc/Ccc	0	not done		benign	
TRPV6		inserm.fr	GRCh37	7	142574898	142574898	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC121T																					ENST00000359396.3:c.484T>C	p.Phe162Leu	p.F162L	ENST00000359396	NM_018646.4	162	Ttt/Ctt	0	validated		benign	
TRPV5		inserm.fr	GRCh37	7	142612697	142612697	+	synonymous_variant	Silent	SNP	C	G	G			BCM545T																					ENST00000265310.1:c.1164G>C	p.Gly388=	p.G388=	ENST00000265310	NM_019841.4	388	ggG/ggC	0	validated		synonymous	
KEL		inserm.fr	GRCh37	7	142640124	142640124	+	synonymous_variant	Silent	SNP	A	G	G			CHC1915T																					ENST00000355265.2:c.1779T>C	p.Pro593=	p.P593=	ENST00000355265	NM_000420.2	593	ccT/ccC	0	validated		synonymous	
IL15		inserm.fr	GRCh37	4	142651087	142651087	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1734T																					ENST00000296545.7:c.328A>G	p.Thr110Ala	p.T110A	ENST00000296545		110	Aca/Gca	0	not done		benign	
PAQR9		inserm.fr	GRCh37	3	142681284	142681284	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC884T																					ENST00000340634.3:c.895A>C	p.Ile299Leu	p.I299L	ENST00000340634	NM_198504.2	299	Atc/Ctc	0	validated		benign	
SPON1		inserm.fr	GRCh37	11	14281097	14281097	+	non_coding_transcript_exon_variant	RNA	SNP	A	G	G			BCB307T																					ENST00000310358.7:n.2216A>G		*739*	ENST00000310358				0	validated		benign	
EPHA1		inserm.fr	GRCh37	7	143095787	143095787	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM321T																					ENST00000275815.3:c.1243T>C	p.Tyr415His	p.Y415H	ENST00000275815	NM_005232.4	415	Tac/Cac	0	validated		probablydamaging	
OR6B1		inserm.fr	GRCh37	7	143701980	143701980	+	synonymous_variant	Silent	SNP	A	G	G			CHC1185T																					ENST00000408922.2:c.891A>G	p.Glu297=	p.E297=	ENST00000408922	NM_001005281.1	297	gaA/gaG	0	not done		synonymous	
JRK		inserm.fr	GRCh37	8	143746297	143746297	+	non_coding_transcript_exon_variant	RNA	SNP	C	G	G			CHC892T																					ENST00000507178.2:n.1514G>C		*505*	ENST00000507178				0	not done		possiblydamaging	
TPK1		inserm.fr	GRCh37	7	144320305	144320305	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2029T																					ENST00000360057.3:c.308A>C	p.Lys103Thr	p.K103T	ENST00000360057	NM_022445.3	103	aAg/aCg	0	validated		probablydamaging	
FREM3		inserm.fr	GRCh37	4	144614287	144614287	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2034T																					ENST00000329798.5:c.5254T>C	p.Tyr1752His	p.Y1752H	ENST00000329798	NM_001168235.1	1752	Tat/Cat	0	not done			
FREM3		inserm.fr	GRCh37	4	144614334	144614334	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2128T																					ENST00000329798.5:c.5207T>C	p.Ile1736Thr	p.I1736T	ENST00000329798	NM_001168235.1	1736	aTa/aCa	0	not done			
UTRN		inserm.fr	GRCh37	6	144783825	144783825	+	synonymous_variant	Silent	SNP	A	G	G			CHC1736T																					ENST00000367545.3:c.2889A>G	p.Ala963=	p.A963=	ENST00000367545	NM_007124.2	963	gcA/gcG	0	not done		synonymous	
CCDC166		inserm.fr	GRCh37	8	144789963	144789963	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1725T																					ENST00000542437.1:c.317A>C	p.His106Pro	p.H106P	ENST00000542437	NM_001162914.1	106	cAc/cCc	0	not done		probablydamaging	
UTRN		inserm.fr	GRCh37	6	144820486	144820486	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC798T									Valid												ENST00000367545.3:c.4687A>G	p.Thr1563Ala	p.T1563A	ENST00000367545	NM_007124.2	1563	Act/Gct	0	validated		probablydamaging	
UTRN		inserm.fr	GRCh37	6	144837988	144837988	+	synonymous_variant	Silent	SNP	A	G	G			BCM325T																					ENST00000367545.3:c.5445A>G	p.Arg1815=	p.R1815=	ENST00000367545	NM_007124.2	1815	agA/agG	0	validated		synonymous	
SPATC1		inserm.fr	GRCh37	8	145094825	145094825	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1152T																					ENST00000377470.3:c.227C>G	p.Pro76Arg	p.P76R	ENST00000377470	NM_198572.2	76	cCg/cGg	0	validated		probablydamaging	
ZEB2		inserm.fr	GRCh37	2	145147393	145147393	+	synonymous_variant	Silent	SNP	C	G	G			BCM543T																					ENST00000558170.2:c.3270G>C	p.Ala1090=	p.A1090=	ENST00000558170	NM_014795.3	1090	gcG/gcC	0	validated		synonymous	
COPB1		inserm.fr	GRCh37	11	14520469	14520469	+	synonymous_variant	Silent	SNP	C	G	G			BCM275T																					ENST00000249923.3:c.6G>C	p.Thr2=	p.T2=	ENST00000249923	NM_016451.4	2	acG/acC	0	validated		synonymous	
GRXCR2		inserm.fr	GRCh37	5	145252343	145252343	+	synonymous_variant	Silent	SNP	A	G	G			CHC1185T																					ENST00000377976.1:c.189T>C	p.Gly63=	p.G63=	ENST00000377976	NM_001080516.1	63	ggT/ggC	0	not done		synonymous	
MROH1		inserm.fr	GRCh37	8	145254069	145254069	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC609T									Valid												ENST00000528919.1:c.993C>G	p.Asn331Lys	p.N331K	ENST00000528919	NM_032450.2	331	aaC/aaG	0	validated		probablydamaging	
POTEC		inserm.fr	GRCh37	18	14543062	14543062	+	synonymous_variant	Silent	SNP	A	G	G			CHC2215T																					ENST00000358970.5:c.84T>C	p.Phe28=	p.F28=	ENST00000358970	NM_001137671.1	28	ttT/ttC	0	not done		synonymous	
GLRA2		inserm.fr	GRCh37	X	14550387	14550387	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1052T																					ENST00000218075.4:c.95C>G	p.Ser32Cys	p.S32C	ENST00000218075	NM_002063.3	32	tCc/tGc	0	validated		benign	
PEX11B		inserm.fr	GRCh37	1	145516652	145516652	+	intron_variant	Intron	SNP	A	G	G			BCM703T																					ENST00000369306.3:c.56+196A>G		*19*	ENST00000369306	NM_003846.2			0	validated		synonymous	
FBXL6		inserm.fr	GRCh37	8	145581950	145581950	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1725T																					ENST00000331890.5:c.158G>C	p.Gly53Ala	p.G53A	ENST00000331890	NM_012162.3	53	gGc/gCc	0	validated		benign	
FBXL6		inserm.fr	GRCh37	8	145581950	145581950	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC432T																					ENST00000331890.5:c.158G>C	p.Gly53Ala	p.G53A	ENST00000331890	NM_012162.3	53	gGc/gCc	0	validated		benign	
CPSF1		inserm.fr	GRCh37	8	145624670	145624670	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1209T																					ENST00000349769.3:c.1388T>C	p.Phe463Ser	p.F463S	ENST00000349769	NM_013291.2	463	tTt/tCt	0	not done		probablydamaging	
POU4F3		inserm.fr	GRCh37	5	145719123	145719123	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM791T																					ENST00000230732.4:c.133A>G	p.Ile45Val	p.I45V	ENST00000230732	NM_002700.2	45	Ata/Gta	0	validated		possiblydamaging	
PPP1R16A		inserm.fr	GRCh37	8	145726567	145726567	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000292539.4:c.1093C>G	p.His365Asp	p.H365D	ENST00000292539		365	Cac/Gac	0	not done		possiblydamaging	
ATF7IP		inserm.fr	GRCh37	12	14578214	14578214	+	synonymous_variant	Silent	SNP	A	G	G			BCM783T																					ENST00000261168.4:c.1365A>G	p.Thr455=	p.T455=	ENST00000261168	NM_018179.3	455	acA/acG	0	validated		synonymous	
FAM105A		inserm.fr	GRCh37	5	14582058	14582058	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM791T																					ENST00000274217.3:c.55C>G	p.Pro19Ala	p.P19A	ENST00000274217	NM_019018.2	19	Ccc/Gcc	0	validated		benign	
ZNF251		inserm.fr	GRCh37	8	145979160	145979160	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1183T																					ENST00000292562.7:c.185A>C	p.Glu62Ala	p.E62A	ENST00000292562	NM_138367.1	62	gAg/gCg	0	not done		possiblydamaging	
ZNF7		inserm.fr	GRCh37	8	146067591	146067591	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T									Valid												ENST00000528372.1:c.1099T>G	p.Cys367Gly	p.C367G	ENST00000528372		367	Tgt/Ggt	0	validated		probablydamaging	
OTUD4		inserm.fr	GRCh37	4	146071812	146071812	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1746T																					ENST00000454497.2:c.917T>C	p.Ile306Thr	p.I306T	ENST00000454497	NM_001102653.1	306	aTa/aCa	0	not done		possiblydamaging	
FBXO30		inserm.fr	GRCh37	6	146127094	146127094	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM375T																					ENST00000237281.4:c.448T>C	p.Ser150Pro	p.S150P	ENST00000237281	NM_032145.4	150	Tcc/Ccc	0	validated		benign	
GRM1		inserm.fr	GRCh37	6	146673416	146673416	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC801T																					ENST00000361719.2:c.1217A>G	p.Gln406Arg	p.Q406R	ENST00000361719		406	cAg/cGg	0	not done		possiblydamaging	
DPYSL3		inserm.fr	GRCh37	5	146795328	146795328	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC301T									Valid												ENST00000343218.5:c.764T>C	p.Ile255Thr	p.I255T	ENST00000343218	NM_001197294.1	255	aTc/aCc	0	validated		probablydamaging	
APC2		inserm.fr	GRCh37	19	1469530	1469530	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1725T																					ENST00000535453.1:c.6230C>G	p.Thr2077Ser	p.T2077S	ENST00000535453		2077	aCc/aGc	0	validated		benign	
FMR1		inserm.fr	GRCh37	X	147022162	147022162	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1040T																					ENST00000370475.4:c.1256A>G	p.Tyr419Cys	p.Y419C	ENST00000370475	NM_002024.5	419	tAt/tGt	0	not done		probablydamaging	
UQCC4		inserm.fr	GRCh37	16	1470361	1470361	+	synonymous_variant	Silent	SNP	C	G	G			CHC1746T																					ENST00000310355.1:c.756G>C	p.Leu252=	p.L252=	ENST00000310355		252	ctG/ctC	0	not done		synonymous	
LPCAT1		inserm.fr	GRCh37	5	1471009	1471009	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB231T																					ENST00000283415.3:c.1210T>C	p.Cys404Arg	p.C404R	ENST00000283415	NM_024830.3	404	Tgt/Cgt	0	validated		benign	
PARN		inserm.fr	GRCh37	16	14721147	14721147	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1209T																					ENST00000437198.2:c.224A>C	p.Lys75Thr	p.K75T	ENST00000437198	NM_002582.3	75	aAg/aCg	0	not done		benign	
FREM1		inserm.fr	GRCh37	9	14746997	14746997	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1717T																					ENST00000422223.2:c.6062T>C	p.Phe2021Ser	p.F2021S	ENST00000422223	NM_144966.5	2021	tTc/tCc	0	not done		benign	
STXBP5		inserm.fr	GRCh37	6	147648347	147648347	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC798T									Valid												ENST00000321680.6:c.2015A>G	p.Tyr672Cys	p.Y672C	ENST00000321680	NM_001127715.2	672	tAt/tGt	0	validated		probablydamaging	
AFF2		inserm.fr	GRCh37	X	147743564	147743564	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1010T																					ENST00000370460.2:c.316C>G	p.Pro106Ala	p.P106A	ENST00000370460	NM_002025.3	106	Ccc/Gcc	0	not done		possiblydamaging	
CNTNAP2		inserm.fr	GRCh37	7	147914448	147914448	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1566T																					ENST00000361727.3:c.3079A>G	p.Arg1027Gly	p.R1027G	ENST00000361727	NM_014141.5	1027	Aga/Gga	0	not done		benign	
PDE3B		inserm.fr	GRCh37	11	14810659	14810659	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB231T																					ENST00000282096.4:c.1286A>G	p.Asn429Ser	p.N429S	ENST00000282096	NM_000922.3	429	aAt/aGt	0	validated		benign	
FREM1		inserm.fr	GRCh37	9	14813034	14813034	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2216T																					ENST00000422223.2:c.2669T>C	p.Val890Ala	p.V890A	ENST00000422223	NM_144966.5	890	gTc/gCc	0	not done		benign	
ADRB2		inserm.fr	GRCh37	5	148207097	148207097	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1741T																					ENST00000305988.4:c.703A>G	p.Lys235Glu	p.K235E	ENST00000305988	NM_000024.5	235	Aaa/Gaa	0	not done		benign	
C7orf33		inserm.fr	GRCh37	7	148288194	148288194	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1594T																					ENST00000307003.2:c.177C>G	p.Asn59Lys	p.N59K	ENST00000307003	NM_145304.2	59	aaC/aaG	0	not done		benign	
ZNF333		inserm.fr	GRCh37	19	14830048	14830048	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC805T																					ENST00000292530.6:c.1909A>G	p.Lys637Glu	p.K637E	ENST00000292530	NM_032433.2	637	Aaa/Gaa	0	not done		benign	
EDNRA		inserm.fr	GRCh37	4	148457094	148457094	+	synonymous_variant	Silent	SNP	T	G	G			CHC703T																					ENST00000324300.5:c.813T>G	p.Thr271=	p.T271=	ENST00000324300	NM_001957.3	271	acT/acG	0	not done		synonymous	
CUL1		inserm.fr	GRCh37	7	148495096	148495096	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM325T									Valid												ENST00000325222.4:c.2015A>G	p.Tyr672Cys	p.Y672C	ENST00000325222	NM_003592.2	672	tAt/tGt	0	validated		possiblydamaging	
PRMT10		inserm.fr	GRCh37	4	148559759	148559759	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1207T																					ENST00000322396.6:c.2462A>C	p.Gln821Pro	p.Q821P	ENST00000322396	NM_138364.2	821	cAg/cCg	0	not done		benign	
ACVR2A		inserm.fr	GRCh37	2	148657041	148657041	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2034T																					ENST00000241416.7:c.278A>G	p.Glu93Gly	p.E93G	ENST00000241416	NM_001616.4	93	gAa/gGa	0	not done		benign	
ACVR2A		inserm.fr	GRCh37	2	148676075	148676075	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC801T																					ENST00000241416.7:c.876T>G	p.Ile292Met	p.I292M	ENST00000241416	NM_001616.4	292	atT/atG	0	not done		possiblydamaging	
ARHGAP10		inserm.fr	GRCh37	4	148744095	148744095	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2208T																					ENST00000336498.3:c.299A>G	p.Gln100Arg	p.Q100R	ENST00000336498	NM_024605.3	100	cAg/cGg	0	not done		probablydamaging	
GYG1		inserm.fr	GRCh37	3	148744661	148744661	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1040T																					ENST00000345003.4:c.994T>G	p.Tyr332Asp	p.Y332D	ENST00000345003	NM_004130.3	332	Tat/Gat	0	not done		probablydamaging	
PCYOX1L		inserm.fr	GRCh37	5	148748021	148748021	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1749T																					ENST00000274569.4:c.1289C>G	p.Ser430Cys	p.S430C	ENST00000274569	NM_024028.3	430	tCc/tGc	0	not done		probablydamaging	
PDE3B		inserm.fr	GRCh37	11	14880655	14880655	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1629T																					ENST00000282096.4:c.2587C>G	p.Leu863Val	p.L863V	ENST00000282096	NM_000922.3	863	Ctt/Gtt	0	not done		probablydamaging	
SASH1		inserm.fr	GRCh37	6	148854907	148854907	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC1746T									Valid												ENST00000367467.3:c.1735A>G	p.Lys579Glu	p.K579E	ENST00000367467	NM_015278.3	579	Aaa/Gaa	0	validated		probablydamaging	
ARHGAP10		inserm.fr	GRCh37	4	148886278	148886278	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	G	G			CHC1081T																					ENST00000336498.3:c.1554A>G	p.Thr518=	p.T518=	ENST00000336498	NM_024605.3	518	acA/acG	0	validated		synonymous	
CYP2R1		inserm.fr	GRCh37	11	14900967	14900967	+	synonymous_variant	Silent	SNP	A	G	G			BCM695T																					ENST00000334636.5:c.1023T>C	p.Asp341=	p.D341=	ENST00000334636	NM_024514.4	341	gaT/gaC	0	validated		synonymous	
TM4SF1		inserm.fr	GRCh37	3	149095167	149095167	+	synonymous_variant	Silent	SNP	A	G	G			CHC736T																					ENST00000305366.3:c.168T>C	p.Gly56=	p.G56=	ENST00000305366	NM_014220.2	56	ggT/ggC	0	validated		synonymous	
MBD5		inserm.fr	GRCh37	2	149226479	149226479	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1148T																					ENST00000407073.1:c.967A>G	p.Ile323Val	p.I323V	ENST00000407073	NM_018328.4	323	Ata/Gta	0	not done		benign	
HMGXB3		inserm.fr	GRCh37	5	149425215	149425215	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1595T																					ENST00000502717.1:c.2917A>G	p.Lys973Glu	p.K973E	ENST00000502717	NM_014983.2	973	Aaa/Gaa	0	validated		probablydamaging	
CSF1R		inserm.fr	GRCh37	5	149439349	149439349	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1611T																					ENST00000286301.3:c.2046G>C	p.Met682Ile	p.M682I	ENST00000286301	NM_005211.3	682	atG/atC	0	not done		benign	
ANKUB1		inserm.fr	GRCh37	3	149485454	149485454	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1717T																					ENST00000446160.1:c.995A>C	p.Gln332Pro	p.Q332P	ENST00000446160	NM_001144960.1	332	cAg/cCg	0	not done		possiblydamaging	
SSPO		inserm.fr	GRCh37	7	149500173	149500173	+	non_coding_transcript_exon_variant	RNA	SNP	A	G	G			BCB151T																					ENST00000378016.2:n.7799A>G		*2600*	ENST00000378016				0	validated		possiblydamaging	
SSPO		inserm.fr	GRCh37	7	149509205	149509205	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	C	G	G			CHC1598T																					ENST00000378016.2:n.9751C>G		p.X3251_splice	ENST00000378016				0	validated		possiblydamaging	
EPC2		inserm.fr	GRCh37	2	149543916	149543916	+	synonymous_variant	Silent	SNP	A	G	G			CHC1209T																					ENST00000258484.6:c.2394A>G	p.Ala798=	p.A798=	ENST00000258484	NM_015630.3	798	gcA/gcG	0	not done		synonymous	
TAB2		inserm.fr	GRCh37	6	149700482	149700482	+	synonymous_variant	Silent	SNP	A	G	G			CHC1065T																					ENST00000367456.1:c.1431A>G	p.Ser477=	p.S477=	ENST00000367456		477	tcA/tcG	0	validated		synonymous	
TCOF1		inserm.fr	GRCh37	5	149758872	149758872	+	synonymous_variant	Silent	SNP	C	G	G			CHC736T																					ENST00000504761.2:c.2559C>G	p.Ala853=	p.A853=	ENST00000504761		853	gcC/gcG	0	validated		synonymous	
DLGAP2		inserm.fr	GRCh37	8	1497701	1497701	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC218T																					ENST00000421627.2:c.842C>G	p.Pro281Arg	p.P281R	ENST00000421627	NM_004745.4	281	cCc/cGc	0	validated		probablydamaging	
HIST2H2AB		inserm.fr	GRCh37	1	149859409	149859409	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC912T																					ENST00000331128.3:c.58T>C	p.Ser20Pro	p.S20P	ENST00000331128	NM_175065.2	20	Tcc/Ccc	0	validated		possiblydamaging	
MTMR1		inserm.fr	GRCh37	X	149901125	149901125	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2115T																					ENST00000544228.1:c.979A>G	p.Ile327Val	p.I327V	ENST00000544228		327	Ata/Gta	0	not done		possiblydamaging	
NDST1		inserm.fr	GRCh37	5	149901315	149901315	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1712T																					ENST00000261797.6:c.499A>G	p.Ile167Val	p.I167V	ENST00000261797	NM_001543.4	167	Att/Gtt	0	not done		benign	
GINM1		inserm.fr	GRCh37	6	149911917	149911917	+	synonymous_variant	Silent	SNP	A	G	G			BCM723T																					ENST00000367419.5:c.936A>G	p.Leu312=	p.L312=	ENST00000367419	NM_138785.3	312	ttA/ttG	0	validated		synonymous	
NDST1		inserm.fr	GRCh37	5	149919738	149919738	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM339T																					ENST00000261797.6:c.1661C>G	p.Thr554Arg	p.T554R	ENST00000261797	NM_001543.4	554	aCg/aGg	0	validated		probablydamaging	
ACTR3C		inserm.fr	GRCh37	7	149983515	149983515	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC303T									Valid												ENST00000539352.1:c.412T>C	p.Phe138Leu	p.F138L	ENST00000539352	NM_001164458.1	138	Ttt/Ctt	0	validated		probablydamaging	
EIF2A		inserm.fr	GRCh37	3	150290209	150290209	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1743T																					ENST00000460851.1:c.1276A>G	p.Ile426Val	p.I426V	ENST00000460851		426	Ata/Gta	0	not done		benign	
EIF2A		inserm.fr	GRCh37	3	150299454	150299454	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC301T																					ENST00000460851.1:c.1547A>G	p.Gln516Arg	p.Q516R	ENST00000460851		516	cAg/cGg	0	validated		probablydamaging	
RAET1L		inserm.fr	GRCh37	6	150342293	150342293	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1731T																					ENST00000367341.1:c.379T>C	p.Cys127Arg	p.C127R	ENST00000367341		127	Tgt/Cgt	0	not done		probablydamaging	
TNIP1		inserm.fr	GRCh37	5	150416384	150416384	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC909T																					ENST00000389378.2:c.1362G>C	p.Glu454Asp	p.E454D	ENST00000389378	NM_001252385.1	454	gaG/gaC	0	not done		probablydamaging	
TMEM176A		inserm.fr	GRCh37	7	150500900	150500900	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T																					ENST00000484928.1:c.535T>G	p.Ser179Ala	p.S179A	ENST00000484928		179	Tcc/Gcc	0	validated		benign	
ADAMTSL4		inserm.fr	GRCh37	1	150525399	150525399	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC314T									Valid												ENST00000271643.4:c.104C>G	p.Thr35Arg	p.T35R	ENST00000271643	NM_019032.4	35	aCa/aGa	0	validated		possiblydamaging	
ADAMTSL4		inserm.fr	GRCh37	1	150528829	150528829	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1183T																					ENST00000271643.4:c.1563C>G	p.Ser521Arg	p.S521R	ENST00000271643	NM_019032.4	521	agC/agG	0	not done		probablydamaging	
CCDC69		inserm.fr	GRCh37	5	150581147	150581147	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2048T																					ENST00000355417.2:c.227A>C	p.Gln76Pro	p.Q76P	ENST00000355417	NM_015621.2	76	cAa/cCa	0	not done		possiblydamaging	
NOS3		inserm.fr	GRCh37	7	150695507	150695507	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2127T																					ENST00000297494.3:c.645C>G	p.Ile215Met	p.I215M	ENST00000297494	NM_000603.4	215	atC/atG	0	not done		probablydamaging	
NOS3		inserm.fr	GRCh37	7	150707701	150707701	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2351T																					ENST00000297494.3:c.2702A>G	p.Glu901Gly	p.E901G	ENST00000297494	NM_000603.4	901	gAg/gGg	0	not done		benign	
SLC36A2		inserm.fr	GRCh37	5	150712884	150712884	+	splice_acceptor_variant	Splice_Site	SNP	C	G	G			CHC1732T																					ENST00000335244.4:c.745-1G>C		p.X249_splice	ENST00000335244	NM_181776.2			0	not done		possiblydamaging	
SLC36A2		inserm.fr	GRCh37	5	150726899	150726899	+	synonymous_variant	Silent	SNP	A	G	G			CHC2321T																					ENST00000335244.4:c.123T>C	p.Ser41=	p.S41=	ENST00000335244	NM_181776.2	41	agT/agC	0	validated		synonymous	
FASTK		inserm.fr	GRCh37	7	150774405	150774405	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2127T																					ENST00000297532.6:c.1283A>C	p.Tyr428Ser	p.Y428S	ENST00000297532	NM_006712.4	428	tAc/tCc	0	not done		probablydamaging	
SETDB1		inserm.fr	GRCh37	1	150900388	150900388	+	synonymous_variant	Silent	SNP	A	G	G			CHC437T																					ENST00000271640.5:c.198A>G	p.Thr66=	p.T66=	ENST00000271640	NM_001145415.1	66	acA/acG	0	not done		synonymous	
SETDB1		inserm.fr	GRCh37	1	150936058	150936058	+	synonymous_variant	Silent	SNP	A	G	G			CHC2103T																					ENST00000271640.5:c.3510A>G	p.Lys1170=	p.K1170=	ENST00000271640	NM_001145415.1	1170	aaA/aaG	0	not done		synonymous	
FAT2		inserm.fr	GRCh37	5	150946130	150946130	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2128T																					ENST00000261800.5:c.2363T>C	p.Leu788Pro	p.L788P	ENST00000261800	NM_001447.2	788	cTc/cCc	0	not done		probablydamaging	
C1orf56		inserm.fr	GRCh37	1	151021294	151021294	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC205T																					ENST00000368926.5:c.971A>G	p.Asn324Ser	p.N324S	ENST00000368926	NM_017860.3	324	aAt/aGt	0	validated		probablydamaging	
IGSF10		inserm.fr	GRCh37	3	151164546	151164546	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1601T																					ENST00000282466.3:c.3223G>C	p.Ala1075Pro	p.A1075P	ENST00000282466	NM_178822.4	1075	Gcc/Ccc	0	not done		benign	
IGSF10		inserm.fr	GRCh37	3	151166829	151166829	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1629T																					ENST00000282466.3:c.940G>C	p.Gly314Arg	p.G314R	ENST00000282466	NM_178822.4	314	Ggc/Cgc	0	not done		probablydamaging	
G3BP1		inserm.fr	GRCh37	5	151173733	151173733	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM739T																					ENST00000394123.3:c.365A>G	p.Asn122Ser	p.N122S	ENST00000394123		122	aAt/aGt	0	validated		probablydamaging	
ZNF687		inserm.fr	GRCh37	1	151262598	151262598	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	G	G			CHC1566T																					ENST00000324048.5:c.2965T>G	p.Ser989Ala	p.S989A	ENST00000324048		989	Tca/Gca	0	not done		possiblydamaging	
PRKAG2		inserm.fr	GRCh37	7	151262916	151262916	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1720T																					ENST00000287878.4:c.1289T>C	p.Ile430Thr	p.I430T	ENST00000287878	NM_016203.3	430	aTa/aCa	0	not done		probablydamaging	
PDXDC1		inserm.fr	GRCh37	16	15126778	15126778	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC912T									Valid												ENST00000396410.4:c.1632C>G	p.Ile544Met	p.I544M	ENST00000396410	NM_015027.2	544	atC/atG	0	validated		probablydamaging	
PMP22		inserm.fr	GRCh37	17	15134282	15134282	+	synonymous_variant	Silent	SNP	C	G	G			CHC1531T																					ENST00000395938.2:c.435G>C	p.Leu145=	p.L145=	ENST00000395938	NM_153321.2	145	ctG/ctC	0	not done		synonymous	
CGN		inserm.fr	GRCh37	1	151492724	151492724	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2321T																					ENST00000271636.7:c.956A>G	p.Tyr319Cys	p.Y319C	ENST00000271636	NM_020770.2	319	tAt/tGt	0	validated		benign	
CGN		inserm.fr	GRCh37	1	151502476	151502476	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1211T																					ENST00000271636.7:c.2198A>G	p.Asp733Gly	p.D733G	ENST00000271636	NM_020770.2	733	gAc/gGc	0	not done		probablydamaging	
AKAP12		inserm.fr	GRCh37	6	151670488	151670488	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM423T																					ENST00000402676.2:c.962T>G	p.Val321Gly	p.V321G	ENST00000402676	NM_005100.3	321	gTg/gGg	0	validated		benign	
MLL3		inserm.fr	GRCh37	7	151846124	151846124	+	synonymous_variant	Silent	SNP	T	G	G			CHC796T																					ENST00000262189.6:c.12888A>C	p.Pro4296=	p.P4296=	ENST00000262189	NM_170606.2	4296	ccA/ccC	0	validated		synonymous	
CCDC170		inserm.fr	GRCh37	6	151936666	151936666	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB301T																					ENST00000239374.7:c.1799A>G	p.Lys600Arg	p.K600R	ENST00000239374	NM_025059.3	600	aAg/aGg	0	validated		probablydamaging	
RPS3A		inserm.fr	GRCh37	4	152020822	152020822	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM769T																					ENST00000274065.4:c.18C>G	p.Asn6Lys	p.N6K	ENST00000274065	NM_001006.4	6	aaC/aaG	0	validated		probablydamaging	
HRNR		inserm.fr	GRCh37	1	152189917	152189917	+	synonymous_variant	Silent	SNP	A	G	G			CHC197T																					ENST00000368801.2:c.4188T>C	p.Gly1396=	p.G1396=	ENST00000368801	NM_001009931.2	1396	ggT/ggC	0	validated		synonymous	
TNFAIP6		inserm.fr	GRCh37	2	152230100	152230100	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1737T																					ENST00000243347.3:c.661A>G	p.Thr221Ala	p.T221A	ENST00000243347	NM_007115.3	221	Aca/Gca	0	validated		possiblydamaging	
FLG		inserm.fr	GRCh37	1	152281297	152281297	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1148T																					ENST00000368799.1:c.6065T>C	p.Ile2022Thr	p.I2022T	ENST00000368799	NM_002016.1	2022	aTt/aCt	0	not done		benign	
FLG2		inserm.fr	GRCh37	1	152326638	152326638	+	synonymous_variant	Silent	SNP	A	G	G			CHC1717T																					ENST00000388718.5:c.3624T>C	p.Tyr1208=	p.Y1208=	ENST00000388718	NM_001014342.2	1208	taT/taC	0	not done		synonymous	
RIF1		inserm.fr	GRCh37	2	152331375	152331375	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC796T																					ENST00000243326.5:c.7209A>G	p.Ile2403Met	p.I2403M	ENST00000243326		2403	atA/atG	0	validated		benign	
FAM160A1		inserm.fr	GRCh37	4	152487503	152487503	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC909T																					ENST00000435205.1:c.92A>G	p.Asn31Ser	p.N31S	ENST00000435205	NM_001109977.1	31	aAc/aGc	0	not done		benign	
NEB		inserm.fr	GRCh37	2	152515603	152515603	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM703T																					ENST00000397345.3:c.6051G>C	p.Lys2017Asn	p.K2017N	ENST00000397345	NM_001164508.1	2017	aaG/aaC	0	validated		probablydamaging	
LCE2B		inserm.fr	GRCh37	1	152659336	152659336	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC898T																					ENST00000368780.3:c.17A>G	p.Asn6Ser	p.N6S	ENST00000368780	NM_014357.4	6	aAc/aGc	0	not done		benign	
SYNE1		inserm.fr	GRCh37	6	152671349	152671349	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1708T																					ENST00000367255.5:c.11855A>C	p.Glu3952Ala	p.E3952A	ENST00000367255	NM_182961.3	3952	gAg/gCg	0	not done		possiblydamaging	
C1orf68		inserm.fr	GRCh37	1	152692098	152692098	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1747T																					ENST00000368775.2:c.101C>G	p.Pro34Arg	p.P34R	ENST00000368775	NM_001024679.2	34	cCa/cGa	0	not done		possiblydamaging	
C1orf68		inserm.fr	GRCh37	1	152692131	152692131	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1717T																					ENST00000368775.2:c.134C>G	p.Thr45Arg	p.T45R	ENST00000368775	NM_001024679.2	45	aCa/aGa	0	not done		benign	
NOTCH3		inserm.fr	GRCh37	19	15291042	15291042	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC303T																					ENST00000263388.2:c.3168G>C	p.Gln1056His	p.Q1056H	ENST00000263388	NM_000435.2	1056	caG/caC	0	validated		benign	
BCAP31		inserm.fr	GRCh37	X	152986426	152986426	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			BCB167T																					ENST00000458587.2:c.295T>C	p.Trp99Arg	p.W99R	ENST00000458587	NM_001139441.1	99	Tgg/Cgg	0	validated		probablydamaging	
MYCT1		inserm.fr	GRCh37	6	153043379	153043379	+	synonymous_variant	Silent	SNP	A	G	G			CHC1207T																					ENST00000367245.5:c.699A>G	p.Pro233=	p.P233=	ENST00000367245	NM_025107.2	233	ccA/ccG	0	not done		synonymous	
SRPK3		inserm.fr	GRCh37	X	153046763	153046763	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC892T																					ENST00000370101.3:c.152A>G	p.Asp51Gly	p.D51G	ENST00000370101	NM_001170760.1	51	gAc/gGc	0	not done		probablydamaging	
L1CAM		inserm.fr	GRCh37	X	153129918	153129918	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1154T																					ENST00000370060.1:c.3181G>C	p.Ala1061Pro	p.A1061P	ENST00000370060	NM_001278116.1	1061	Gct/Cct	0	not done		benign	
FBXW7		inserm.fr	GRCh37	4	153251904	153251904	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC301T																					ENST00000281708.4:c.1102G>C	p.Gly368Arg	p.G368R	ENST00000281708	NM_033632.3	368	Gga/Cga	0	validated		benign	
GALNT10		inserm.fr	GRCh37	5	153760013	153760013	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC432T																					ENST00000297107.6:c.760A>G	p.Ile254Val	p.I254V	ENST00000297107	NM_198321.3	254	Att/Gtt	0	not done		possiblydamaging	
ARHGEF26		inserm.fr	GRCh37	3	153847505	153847505	+	synonymous_variant	Silent	SNP	T	G	G			CHC1731T																					ENST00000356448.4:c.1266T>G	p.Ser422=	p.S422=	ENST00000356448	NM_001251962.1	422	tcT/tcG	0	not done		synonymous	
FHDC1		inserm.fr	GRCh37	4	153897444	153897444	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC429T									Valid												ENST00000511601.1:c.3001A>G	p.Lys1001Glu	p.K1001E	ENST00000511601		1001	Aag/Gag	0	validated		probablydamaging	
ARHGEF26		inserm.fr	GRCh37	3	153958204	153958204	+	synonymous_variant	Silent	SNP	A	G	G			CHC433T																					ENST00000356448.4:c.2136A>G	p.Leu712=	p.L712=	ENST00000356448	NM_001251962.1	712	ctA/ctG	0	validated		synonymous	
MPP1		inserm.fr	GRCh37	X	154014574	154014574	+	synonymous_variant	Silent	SNP	A	G	G			CHC1044T																					ENST00000369534.3:c.582T>C	p.Ile194=	p.I194=	ENST00000369534	NM_001166461.1	194	atT/atC	0	not done		synonymous	
TPM3		inserm.fr	GRCh37	1	154131504	154131504	+	upstream_gene_variant	5'Flank	SNP	C	G	G			CHC1708T																								ENST00000368559	NM_207308.2			0	not done			
F8		inserm.fr	GRCh37	X	154159885	154159885	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1717T																					ENST00000360256.4:c.2180T>C	p.Val727Ala	p.V727A	ENST00000360256	NM_000132.3	727	gTt/gCt	0	not done		probablydamaging	
ATP8B2		inserm.fr	GRCh37	1	154315312	154315312	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2141T																					ENST00000368489.3:c.1427A>G	p.Asp476Gly	p.D476G	ENST00000368489	NM_020452.3	476	gAc/gGc	0	not done		probablydamaging	
KIF4B		inserm.fr	GRCh37	5	154393889	154393889	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC205T									Valid												ENST00000435029.4:c.470A>G	p.Glu157Gly	p.E157G	ENST00000435029	NM_001099293.1	157	gAg/gGg	0	validated		benign	
IL6R		inserm.fr	GRCh37	1	154402985	154402985	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1915T									Valid												ENST00000368485.3:c.361T>G	p.Cys121Gly	p.C121G	ENST00000368485	NM_000565.3	121	Tgc/Ggc	0	validated		probablydamaging	
KIAA0922		inserm.fr	GRCh37	4	154502049	154502049	+	synonymous_variant	Silent	SNP	A	G	G			BCM339T																					ENST00000409959.3:c.732A>G	p.Gln244=	p.Q244=	ENST00000409959	NM_001131007.1	244	caA/caG	0	validated		synonymous	
KIAA0922		inserm.fr	GRCh37	4	154507445	154507445	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2098T																					ENST00000409959.3:c.1396A>G	p.Ile466Val	p.I466V	ENST00000409959	NM_001131007.1	466	Ata/Gta	0	not done		benign	
ADAR		inserm.fr	GRCh37	1	154561096	154561096	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1592T																					ENST00000368474.4:c.2816T>C	p.Ile939Thr	p.I939T	ENST00000368474	NM_001111.4	939	aTa/aCa	0	not done		probablydamaging	
DPP6		inserm.fr	GRCh37	7	154593104	154593104	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC884T									Valid												ENST00000377770.3:c.1339T>G	p.Phe447Val	p.F447V	ENST00000377770		447	Ttc/Gtc	0	validated		probablydamaging	
EAF1		inserm.fr	GRCh37	3	15471509	15471509	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2127T																					ENST00000396842.2:c.193A>G	p.Ile65Val	p.I65V	ENST00000396842	NM_033083.6	65	Atc/Gtc	0	not done		possiblydamaging	
PAXIP1		inserm.fr	GRCh37	7	154752789	154752789	+	splice_acceptor_variant	Splice_Site	SNP	T	G	G			CHC1185T																					ENST00000404141.1:c.2250-2A>C		p.X750_splice	ENST00000404141				0	not done		damaging	
MME		inserm.fr	GRCh37	3	154890341	154890341	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1545T																					ENST00000460393.1:c.2093A>G	p.Tyr698Cys	p.Y698C	ENST00000460393	NM_007287.2	698	tAt/tGt	0	not done		possiblydamaging	
FLAD1		inserm.fr	GRCh37	1	154960545	154960545	+	intron_variant	Intron	SNP	A	G	G			CHC1715T																					ENST00000292180.3:c.373-36A>G		*125*	ENST00000292180	NM_025207.4			0	not done			
FLAD1		inserm.fr	GRCh37	1	154965378	154965378	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	G	G			CHC1611T																					ENST00000292180.3:c.1629A>G	p.Gly543=	p.G543=	ENST00000292180	NM_025207.4	543	ggA/ggG	0	not done		damaging	
JARID2		inserm.fr	GRCh37	6	15497300	15497300	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1597T																					ENST00000341776.2:c.1844A>G	p.His615Arg	p.H615R	ENST00000341776	NM_004973.3	615	cAc/cGc	0	not done		possiblydamaging	
DCST2		inserm.fr	GRCh37	1	154991223	154991223	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM695T																					ENST00000368424.3:c.2119G>C	p.Glu707Gln	p.E707Q	ENST00000368424	NM_144622.2	707	Gag/Cag	0	validated		benign	
SCAF8		inserm.fr	GRCh37	6	155153749	155153749	+	synonymous_variant	Silent	SNP	A	G	G			CHC1775T																					ENST00000367178.3:c.3036A>G	p.Gly1012=	p.G1012=	ENST00000367178	NM_014892.3	1012	ggA/ggG	0	validated		synonymous	
LIPI		inserm.fr	GRCh37	21	15535738	15535738	+	splice_donor_variant	Splice_Site	SNP	A	G	G			CHC301T									Valid												ENST00000344577.2:c.1069+2T>C		p.X357_splice	ENST00000344577	NM_198996.2			0	validated		damaging	
TRIM16		inserm.fr	GRCh37	17	15539387	15539387	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1052T																					ENST00000455584.2:c.812G>C	p.Arg271Thr	p.R271T	ENST00000455584		271	aGg/aCg	0	validated		probablydamaging	
FGA		inserm.fr	GRCh37	4	155506730	155506730	+	synonymous_variant	Silent	SNP	A	G	G			CHC205T																					ENST00000302053.3:c.1851T>C	p.His617=	p.H617=	ENST00000302053	NM_000508.3	617	caT/caC	0	validated		synonymous	
YY1AP1		inserm.fr	GRCh37	1	155631101	155631101	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1704T																					ENST00000368339.5:c.1407A>C	p.Leu469Phe	p.L469F	ENST00000368339	NM_001198903.1	469	ttA/ttC	0	not done		probablydamaging	
LIPI		inserm.fr	GRCh37	21	15579237	15579237	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB157T																					ENST00000344577.2:c.8T>C	p.Leu3Pro	p.L3P	ENST00000344577	NM_198996.2	3	cTc/cCc	0	validated		possiblydamaging	
FHAD1		inserm.fr	GRCh37	1	15598954	15598954	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM275T																					ENST00000358897.4:c.229A>G	p.Ile77Val	p.I77V	ENST00000358897	NM_052929.1	77	Atc/Gtc	0	validated		benign	
SEMA4A		inserm.fr	GRCh37	1	156146579	156146579	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T																					ENST00000368285.3:c.2077T>G	p.Leu693Val	p.L693V	ENST00000368285	NM_001193300.1	693	Tta/Gta	0	validated		benign	
FHAD1		inserm.fr	GRCh37	1	15623286	15623286	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM529T																					ENST00000358897.4:c.675C>G	p.Asp225Glu	p.D225E	ENST00000358897	NM_052929.1	225	gaC/gaG	0	validated		benign	
SMG5		inserm.fr	GRCh37	1	156247788	156247788	+	synonymous_variant	Silent	SNP	C	G	G			CHC898T																					ENST00000361813.5:c.225G>C	p.Gly75=	p.G75=	ENST00000361813	NM_015327.2	75	ggG/ggC	0	not done		synonymous	
SSR3		inserm.fr	GRCh37	3	156271486	156271486	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1601T																					ENST00000265044.2:c.218T>C	p.Val73Ala	p.V73A	ENST00000265044	NM_007107.3	73	gTa/gCa	0	not done		possiblydamaging	
DTNBP1		inserm.fr	GRCh37	6	15627698	15627698	+	synonymous_variant	Silent	SNP	A	G	G			CHC1594T																					ENST00000344537.5:c.231T>C	p.Asp77=	p.D77=	ENST00000344537	NM_001271667.1	77	gaT/gaC	0	not done		synonymous	
TIMD4		inserm.fr	GRCh37	5	156353282	156353282	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1616T																					ENST00000274532.2:c.886A>C	p.Thr296Pro	p.T296P	ENST00000274532	NM_138379.2	296	Aca/Cca	0	not done		probablydamaging	
GPATCH4		inserm.fr	GRCh37	1	156566233	156566233	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1598T																					ENST00000438976.2:c.386A>C	p.Lys129Thr	p.K129T	ENST00000438976		129	aAa/aCa	0	not done		probablydamaging	
HAPLN2		inserm.fr	GRCh37	1	156595137	156595137	+	synonymous_variant	Silent	SNP	A	G	G			CHC889T																					ENST00000255039.1:c.984A>G	p.Gln328=	p.Q328=	ENST00000255039	NM_021817.2	328	caA/caG	0	not done		synonymous	
BCAN		inserm.fr	GRCh37	1	156622044	156622044	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T																					ENST00000329117.5:c.1302T>G	p.Phe434Leu	p.F434L	ENST00000329117	NM_021948.4	434	ttT/ttG	0	validated		probablydamaging	
BCAN		inserm.fr	GRCh37	1	156622442	156622442	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM275T																					ENST00000329117.5:c.1700A>G	p.Glu567Gly	p.E567G	ENST00000329117	NM_021948.4	567	gAg/gGg	0	validated		benign	
CCDC171		inserm.fr	GRCh37	9	15666209	15666209	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1744T																					ENST00000380701.3:c.964C>G	p.Gln322Glu	p.Q322E	ENST00000380701	NM_173550.2	322	Caa/Gaa	0	not done		possiblydamaging	
CYFIP2		inserm.fr	GRCh37	5	156712487	156712487	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC1148T																					ENST00000521420.1:c.116A>G	p.Gln39Arg	p.Q39R	ENST00000521420		39	cAg/cGg	0	not done		possiblydamaging	
INSRR		inserm.fr	GRCh37	1	156811205	156811205	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1040T																					ENST00000368195.3:c.3643G>C	p.Glu1215Gln	p.E1215Q	ENST00000368195	NM_014215.2	1215	Gag/Cag	0	not done		possiblydamaging	
CCNL1		inserm.fr	GRCh37	3	156867854	156867854	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC1028T																					ENST00000295926.3:c.879G>C	p.Lys293Asn	p.K293N	ENST00000295926	NM_020307.2	293	aaG/aaC	0	not done		probablydamaging	
CCNL1		inserm.fr	GRCh37	3	156877698	156877698	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1211T																					ENST00000295926.3:c.186G>C	p.Glu62Asp	p.E62D	ENST00000295926	NM_020307.2	62	gaG/gaC	0	not done		benign	
ADAM19		inserm.fr	GRCh37	5	156940500	156940500	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM501T									Valid												ENST00000257527.4:c.680G>C	p.Arg227Pro	p.R227P	ENST00000257527	NM_033274.4	227	cGa/cCa	0	validated		possiblydamaging	
UBE3C		inserm.fr	GRCh37	7	156967647	156967647	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1044T																					ENST00000348165.5:c.377C>G	p.Ser126Cys	p.S126C	ENST00000348165	NM_014671.2	126	tCt/tGt	0	not done		benign	
UBE3C		inserm.fr	GRCh37	7	156976670	156976670	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCB157T																					ENST00000348165.5:c.1090T>G	p.Ser364Ala	p.S364A	ENST00000348165	NM_014671.2	364	Tca/Gca	0	validated		benign	
KIAA0430		inserm.fr	GRCh37	16	15719626	15719626	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1545T																					ENST00000396368.3:c.1556T>C	p.Leu519Pro	p.L519P	ENST00000396368	NM_001184998.1	519	cTa/cCa	0	not done		probablydamaging	
GPD2		inserm.fr	GRCh37	2	157436287	157436287	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB231T																					ENST00000310454.6:c.2045A>G	p.Asn682Ser	p.N682S	ENST00000310454	NM_001083112.2	682	aAt/aGt	0	validated		benign	
PTPRN2		inserm.fr	GRCh37	7	157475435	157475435	+	synonymous_variant	Silent	SNP	A	G	G			CHC1052T																					ENST00000389418.4:c.1983T>C	p.Asp661=	p.D661=	ENST00000389418	NM_002847.3	661	gaT/gaC	0	validated		synonymous	
CA5B		inserm.fr	GRCh37	X	15790642	15790642	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM269T																					ENST00000318636.3:c.364C>G	p.His122Asp	p.H122D	ENST00000318636	NM_007220.3	122	Cac/Gac	0	validated		benign	
GLRB		inserm.fr	GRCh37	4	158043501	158043501	+	synonymous_variant	Silent	SNP	A	G	G			CHC896T																					ENST00000264428.4:c.249A>G	p.Val83=	p.V83=	ENST00000264428	NM_000824.4	83	gtA/gtG	0	not done		synonymous	
CD1D		inserm.fr	GRCh37	1	158152775	158152775	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC703T																					ENST00000368171.3:c.715A>G	p.Met239Val	p.M239V	ENST00000368171	NM_001766.3	239	Atg/Gtg	0	validated		probablydamaging	
GALNT5		inserm.fr	GRCh37	2	158165126	158165126	+	synonymous_variant	Silent	SNP	A	G	G			CHC1742T																					ENST00000259056.4:c.2568A>G	p.Glu856=	p.E856=	ENST00000259056	NM_014568.1	856	gaA/gaG	0	not done		synonymous	
EPS8		inserm.fr	GRCh37	12	15822698	15822698	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2215T																					ENST00000281172.5:c.266G>C	p.Arg89Thr	p.R89T	ENST00000281172	NM_004447.5	89	aGg/aCg	0	not done		probablydamaging	
GRIA2		inserm.fr	GRCh37	4	158257657	158257657	+	synonymous_variant	Silent	SNP	A	G	G			CHC1751T																					ENST00000296526.7:c.1602A>G	p.Gly534=	p.G534=	ENST00000296526	NM_000826.3	534	ggA/ggG	0	not done		synonymous	
CD1B		inserm.fr	GRCh37	1	158299265	158299265	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2127T																					ENST00000368168.3:c.781T>C	p.Trp261Arg	p.W261R	ENST00000368168	NM_001764.2	261	Tgg/Cgg	0	not done		probablydamaging	
ZRSR2		inserm.fr	GRCh37	X	15838351	15838351	+	synonymous_variant	Silent	SNP	C	G	G			CHC892T																					ENST00000307771.7:c.849C>G	p.Ala283=	p.A283=	ENST00000307771	NM_005089.3	283	gcC/gcG	0	not done		synonymous	
NCAPG2		inserm.fr	GRCh37	7	158437058	158437058	+	synonymous_variant	Silent	SNP	C	G	G			CHC1053T																					ENST00000409423.1:c.3303G>C	p.Val1101=	p.V1101=	ENST00000409423	NM_001281932.1	1101	gtG/gtC	0	validated		synonymous	
SYNJ2		inserm.fr	GRCh37	6	158502504	158502504	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1763T																					ENST00000355585.4:c.2827C>G	p.His943Asp	p.H943D	ENST00000355585	NM_001178088.1	943	Cac/Gac	0	not done		possiblydamaging	
ESYT2		inserm.fr	GRCh37	7	158531784	158531784	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1201T																					ENST00000251527.5:c.2278G>C	p.Gly760Arg	p.G760R	ENST00000251527	NM_020728.2	760	Ggg/Cgg	0	not done		probablydamaging	
SPTA1		inserm.fr	GRCh37	1	158627474	158627474	+	synonymous_variant	Silent	SNP	A	G	G			CHC2115T																					ENST00000368147.4:c.2598T>C	p.Ala866=	p.A866=	ENST00000368147	NM_003126.2	866	gcT/gcC	0	not done		synonymous	
SPTA1		inserm.fr	GRCh37	1	158636156	158636156	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC155T									Valid												ENST00000368147.4:c.2170A>C	p.Asn724His	p.N724H	ENST00000368147	NM_003126.2	724	Aat/Cat	0	validated		probablydamaging	
SPTA1		inserm.fr	GRCh37	1	158650417	158650417	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC902T																					ENST00000368147.4:c.634G>C	p.Gly212Arg	p.G212R	ENST00000368147	NM_003126.2	212	Ggg/Cgg	0	not done		benign	
DNAJC16		inserm.fr	GRCh37	1	15871029	15871029	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1592T																					ENST00000375847.3:c.710A>G	p.Asn237Ser	p.N237S	ENST00000375847	NM_015291.2	237	aAt/aGt	0	not done		probablydamaging	
TMEM181		inserm.fr	GRCh37	6	158957772	158957772	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1566T																					ENST00000367090.3:c.294C>G	p.Asp98Glu	p.D98E	ENST00000367090	NM_020823.1	98	gaC/gaG	0	not done		benign	
IFI16		inserm.fr	GRCh37	1	158988276	158988276	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2103T																					ENST00000368131.4:c.807T>G	p.Ser269Arg	p.S269R	ENST00000368131	NM_005531.2	269	agT/agG	0	not done		possiblydamaging	
RSPH3		inserm.fr	GRCh37	6	159420998	159420998	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1209T																					ENST00000252655.1:c.11A>C	p.Lys4Thr	p.K4T	ENST00000252655	NM_031924.4	4	aAg/aCg	0	not done		benign	
TTC1		inserm.fr	GRCh37	5	159476614	159476614	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T									Valid												ENST00000231238.5:c.635A>G	p.Tyr212Cys	p.Y212C	ENST00000231238	NM_003314.1	212	tAt/tGt	0	validated		probablydamaging	
FGFBP2		inserm.fr	GRCh37	4	15964432	15964432	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1736T																					ENST00000259989.6:c.321G>C	p.Gln107His	p.Q107H	ENST00000259989	NM_031950.3	107	caG/caC	0	not done		probablydamaging	
CCDC171		inserm.fr	GRCh37	9	15971800	15971800	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1545T																					ENST00000380701.3:c.3947C>G	p.Ala1316Gly	p.A1316G	ENST00000380701	NM_173550.2	1316	gCt/gGt	0	not done		benign	
DUSP23		inserm.fr	GRCh37	1	159751056	159751056	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1757T																					ENST00000368107.1:c.166C>G	p.Leu56Val	p.L56V	ENST00000368107		56	Ctc/Gtc	0	not done		benign	
CCDC19		inserm.fr	GRCh37	1	159857790	159857790	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC793T																					ENST00000368099.4:c.429G>C	p.Met143Ile	p.M143I	ENST00000368099	NM_012337.2	143	atG/atC	0	validated		benign	
PROM1		inserm.fr	GRCh37	4	16000009	16000009	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	G	G			BCB307T									Valid												ENST00000510224.1:c.1681A>C	p.Ser561Arg	p.S561R	ENST00000510224		561	Agt/Cgt	0	validated		damaging	
TANC1		inserm.fr	GRCh37	2	160019880	160019880	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1712T																					ENST00000263635.6:c.769C>G	p.Gln257Glu	p.Q257E	ENST00000263635	NM_033394.2	257	Cag/Gag	0	not done		benign	
TANC1		inserm.fr	GRCh37	2	160027231	160027231	+	synonymous_variant	Silent	SNP	A	G	G			CHC451T																					ENST00000263635.6:c.1266A>G	p.Ala422=	p.A422=	ENST00000263635	NM_033394.2	422	gcA/gcG	0	not done		synonymous	
ATP10B		inserm.fr	GRCh37	5	160042942	160042942	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM337T																					ENST00000327245.5:c.2556G>C	p.Trp852Cys	p.W852C	ENST00000327245	NM_025153.2	852	tgG/tgC	0	validated		probablydamaging	
WDSUB1		inserm.fr	GRCh37	2	160092703	160092703	+	splice_acceptor_variant	Splice_Site	SNP	T	G	G			CHC703T																					ENST00000409990.3:c.1274-2A>C		p.X425_splice	ENST00000409990	NM_001128213.1			0	validated		possiblydamaging	
PROM1		inserm.fr	GRCh37	4	16020060	16020060	+	synonymous_variant	Silent	SNP	A	G	G			CHC703T																					ENST00000510224.1:c.888T>C	p.Thr296=	p.T296=	ENST00000510224		296	acT/acC	0	validated		synonymous	
KPNA4		inserm.fr	GRCh37	3	160243857	160243857	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM339T									Valid												ENST00000334256.4:c.595G>C	p.Gly199Arg	p.G199R	ENST00000334256	NM_002268.4	199	Gga/Cga	0	validated		probablydamaging	
BAZ2B		inserm.fr	GRCh37	2	160253881	160253881	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2098T																					ENST00000392783.2:c.2984A>C	p.Gln995Pro	p.Q995P	ENST00000392783	NM_013450.2	995	cAa/cCa	0	not done		probablydamaging	
BAZ2B		inserm.fr	GRCh37	2	160289605	160289605	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T																					ENST00000392783.2:c.1563A>C	p.Glu521Asp	p.E521D	ENST00000392783	NM_013450.2	521	gaA/gaC	0	validated		benign	
IGF2R		inserm.fr	GRCh37	6	160453607	160453607	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1742T																					ENST00000356956.1:c.907A>G	p.Lys303Glu	p.K303E	ENST00000356956	NM_000876.2	303	Aaa/Gaa	0	not done		benign	
IGF2R		inserm.fr	GRCh37	6	160525950	160525950	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1725T																					ENST00000356956.1:c.7310A>G	p.Asn2437Ser	p.N2437S	ENST00000356956	NM_000876.2	2437	aAc/aGc	0	not done		benign	
MARCH7		inserm.fr	GRCh37	2	160604636	160604636	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM695T																					ENST00000259050.4:c.835A>G	p.Thr279Ala	p.T279A	ENST00000259050	NM_022826.2	279	Acg/Gcg	0	validated		probablydamaging	
MARCH11		inserm.fr	GRCh37	5	16067780	16067780	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM711T																					ENST00000332432.8:c.1009G>C	p.Glu337Gln	p.E337Q	ENST00000332432	NM_001102562.1	337	Gag/Cag	0	validated		benign	
GABRB2		inserm.fr	GRCh37	5	160721354	160721354	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCB301T																					ENST00000274547.2:c.1273G>C	p.Gly425Arg	p.G425R	ENST00000274547	NM_000813.2	425	Gga/Cga	0	validated		possiblydamaging	
LY75		inserm.fr	GRCh37	2	160755392	160755392	+	synonymous_variant	Silent	SNP	C	G	G			CHC891T																					ENST00000504764.1:c.273G>C	p.Ser91=	p.S91=	ENST00000504764	NM_001198759.1	91	tcG/tcC	0	not done		synonymous	
NMD3		inserm.fr	GRCh37	3	160968076	160968076	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2351T																					ENST00000460469.1:c.1343A>G	p.Glu448Gly	p.E448G	ENST00000460469		448	gAa/gGa	0	not done		possiblydamaging	
USF1		inserm.fr	GRCh37	1	161011193	161011193	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC258T																					ENST00000368021.3:c.481T>C	p.Phe161Leu	p.F161L	ENST00000368021	NM_007122.4	161	Ttt/Ctt	0	validated		probablydamaging	
LPA		inserm.fr	GRCh37	6	161026125	161026125	+	synonymous_variant	Silent	SNP	A	G	G			CHC1598T																					ENST00000447678.1:c.2898T>C	p.Ser966=	p.S966=	ENST00000447678	NM_005577.2	966	tcT/tcC	0	not done		synonymous	
TLCD2		inserm.fr	GRCh37	17	1611277	1611277	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1148T																					ENST00000330676.6:c.582G>C	p.Gln194His	p.Q194H	ENST00000330676	NM_001164407.1	194	caG/caC	0	not done			
FCGR3B		inserm.fr	GRCh37	1	161596074	161596074	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC451T																					ENST00000531221.1:c.546A>C	p.Lys182Asn	p.K182N	ENST00000531221		182	aaA/aaC	0	validated		possiblydamaging	
TAPT1		inserm.fr	GRCh37	4	16215389	16215389	+	splice_donor_variant	Splice_Site	SNP	A	G	G			CHC898T																					ENST00000405303.2:c.330+2T>C		p.X110_splice	ENST00000405303	NM_153365.2			0	not done		possiblydamaging	
ABCC1		inserm.fr	GRCh37	16	16225766	16225766	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1601T																					ENST00000399410.3:c.3940A>G	p.Asn1314Asp	p.N1314D	ENST00000399410	NM_004996.3	1314	Aat/Gat	0	not done		benign	
TBR1		inserm.fr	GRCh37	2	162274726	162274726	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2127T																					ENST00000389554.3:c.862A>G	p.Met288Val	p.M288V	ENST00000389554	NM_006593.2	288	Atg/Gtg	0	not done		probablydamaging	
SPEN		inserm.fr	GRCh37	1	16245524	16245524	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2362T																					ENST00000375759.3:c.1499A>G	p.Tyr500Cys	p.Y500C	ENST00000375759	NM_015001.2	500	tAt/tGt	0	validated		probablydamaging	
SPEN		inserm.fr	GRCh37	1	16255520	16255520	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2115T																					ENST00000375759.3:c.2785T>G	p.Leu929Val	p.L929V	ENST00000375759	NM_015001.2	929	Ttg/Gtg	0	not done		benign	
POTEH		inserm.fr	GRCh37	22	16269885	16269885	+	synonymous_variant	Silent	SNP	A	G	G			CHC1915T																					ENST00000343518.6:c.1296T>C	p.Asn432=	p.N432=	ENST00000343518	NM_001136213.1	432	aaT/aaC	0	validated		synonymous	
DDR2		inserm.fr	GRCh37	1	162729767	162729767	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC469T																					ENST00000367921.3:c.853A>G	p.Lys285Glu	p.K285E	ENST00000367921	NM_006182.2	285	Aag/Gag	0	validated		possiblydamaging	
SLC4A10		inserm.fr	GRCh37	2	162761340	162761340	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCB325T									Valid												ENST00000446997.1:c.1672T>G	p.Phe558Val	p.F558V	ENST00000446997	NM_001178015.1	558	Ttt/Gtt	0	validated		probablydamaging	
HSD17B7		inserm.fr	GRCh37	1	162762627	162762627	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1182T																					ENST00000254521.3:c.214C>G	p.Arg72Gly	p.R72G	ENST00000254521	NM_016371.2	72	Cgg/Ggg	0	not done		benign	
POTEH		inserm.fr	GRCh37	22	16287394	16287394	+	synonymous_variant	Silent	SNP	A	G	G			CHC961T																					ENST00000343518.6:c.492T>C	p.Ala164=	p.A164=	ENST00000343518	NM_001136213.1	164	gcT/gcC	0	validated		synonymous	
FAP		inserm.fr	GRCh37	2	163059623	163059623	+	synonymous_variant	Silent	SNP	A	G	G			CHC2098T																					ENST00000188790.4:c.1080T>C	p.Asp360=	p.D360=	ENST00000188790	NM_004460.2	360	gaT/gaC	0	not done		synonymous	
CLCNKA		inserm.fr	GRCh37	1	16352644	16352644	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1741T																					ENST00000331433.4:c.400A>G	p.Ile134Val	p.I134V	ENST00000331433		134	Atc/Gtc	0	validated		benign	
CLCNKB		inserm.fr	GRCh37	1	16378261	16378261	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000375679.4:c.1354A>G	p.Ile452Val	p.I452V	ENST00000375679	NM_000085.4	452	Atc/Gtc	0	validated		possiblydamaging	
NPY1R		inserm.fr	GRCh37	4	164247328	164247328	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1715T																					ENST00000296533.2:c.379T>C	p.Ser127Pro	p.S127P	ENST00000296533	NM_000909.5	127	Tcc/Ccc	0	not done		possiblydamaging	
FIGN		inserm.fr	GRCh37	2	164450291	164450291	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCB307T																					ENST00000409634.1:c.41G>C	p.Cys14Ser	p.C14S	ENST00000409634		14	tGt/tCt	0	validated			
ANP32C		inserm.fr	GRCh37	4	165118855	165118855	+	non_coding_transcript_exon_variant	RNA	SNP	C	G	G			CHC1085T																					ENST00000512835.1:n.9G>C		*3*	ENST00000512835				0	validated		probablydamaging	
SCN2A		inserm.fr	GRCh37	2	166153538	166153538	+	synonymous_variant	Silent	SNP	A	G	G			CHC1041T																					ENST00000357398.3:c.279A>G	p.Val93=	p.V93=	ENST00000357398		93	gtA/gtG	0	validated		synonymous	
FAM134B		inserm.fr	GRCh37	5	16617063	16617063	+	synonymous_variant	Silent	SNP	A	G	G			BCM501T																					ENST00000306320.9:c.18T>C	p.Pro6=	p.P6=	ENST00000306320	NM_001034850.2	6	ccT/ccC	0	validated		synonymous	
ANKMY2		inserm.fr	GRCh37	7	16649371	16649371	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2351T																					ENST00000306999.2:c.766T>C	p.Ser256Pro	p.S256P	ENST00000306999	NM_020319.2	256	Tct/Cct	0	not done		benign	
GALNT3		inserm.fr	GRCh37	2	166626935	166626935	+	synonymous_variant	Silent	SNP	A	G	G			CHC1041T																					ENST00000392701.3:c.276T>C	p.Ala92=	p.A92=	ENST00000392701	NM_004482.3	92	gcT/gcC	0	validated		synonymous	
ILDR2		inserm.fr	GRCh37	1	166927041	166927041	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC432T																					ENST00000271417.3:c.344A>C	p.Asp115Ala	p.D115A	ENST00000271417	NM_199351.2	115	gAt/gCt	0	not done		possiblydamaging	
ZBBX		inserm.fr	GRCh37	3	167086329	167086329	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1148T																					ENST00000455345.2:c.102G>C	p.Gln34His	p.Q34H	ENST00000455345		34	caG/caC	0	not done		probablydamaging	
OTOR		inserm.fr	GRCh37	20	16729567	16729567	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC433T									Valid												ENST00000246081.2:c.171C>G	p.Phe57Leu	p.F57L	ENST00000246081	NM_020157.3	57	ttC/ttG	0	validated		probablydamaging	
TENM2		inserm.fr	GRCh37	5	167303054	167303054	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1603T																					ENST00000518659.1:c.566A>G	p.His189Arg	p.H189R	ENST00000518659	NM_001122679.1	189	cAt/cGt	0	not done		possiblydamaging	
WWC1		inserm.fr	GRCh37	5	167841570	167841570	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1749T																					ENST00000521089.1:c.1159A>G	p.Thr387Ala	p.T387A	ENST00000521089		387	Acc/Gcc	0	not done		benign	
RARS		inserm.fr	GRCh37	5	167929040	167929040	+	synonymous_variant	Silent	SNP	T	G	G			BCM423T																					ENST00000231572.3:c.987T>G	p.Ser329=	p.S329=	ENST00000231572	NM_002887.3	329	tcT/tcG	0	validated		synonymous	
SLIT3		inserm.fr	GRCh37	5	168098318	168098318	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM269T									Valid												ENST00000519560.1:c.4012T>C	p.Cys1338Arg	p.C1338R	ENST00000519560	NM_003062.3	1338	Tgc/Cgc	0	validated		probablydamaging	
XIRP2		inserm.fr	GRCh37	2	168104918	168104918	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T									Valid												ENST00000409195.1:c.7016A>G	p.Glu2339Gly	p.E2339G	ENST00000409195	NM_152381.5	2339	gAa/gGa	0	validated		probablydamaging	
XIRP2		inserm.fr	GRCh37	2	168105272	168105272	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM483T																					ENST00000409195.1:c.7370T>G	p.Ile2457Ser	p.I2457S	ENST00000409195	NM_152381.5	2457	aTt/aGt	0	validated		benign	
XIRP2		inserm.fr	GRCh37	2	168105556	168105556	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000409195.1:c.7654A>G	p.Arg2552Gly	p.R2552G	ENST00000409195	NM_152381.5	2552	Aga/Gga	0	validated		probablydamaging	
XIRP2		inserm.fr	GRCh37	2	168105636	168105636	+	synonymous_variant	Silent	SNP	A	G	G			CHC051T																					ENST00000409195.1:c.7734A>G	p.Gln2578=	p.Q2578=	ENST00000409195	NM_152381.5	2578	caA/caG	0	validated		synonymous	
XIRP2		inserm.fr	GRCh37	2	168107513	168107513	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1736T																					ENST00000409195.1:c.9611C>G	p.Pro3204Arg	p.P3204R	ENST00000409195	NM_152381.5	3204	cCg/cGg	0	not done		possiblydamaging	
MECOM		inserm.fr	GRCh37	3	168830640	168830640	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1741T																					ENST00000264674.3:c.2143G>C	p.Asp715His	p.D715H	ENST00000264674	NM_001105077.3	715	Gac/Cac	0	not done		probablydamaging	
MECOM		inserm.fr	GRCh37	3	168845688	168845688	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1182T																					ENST00000264674.3:c.402G>C	p.Glu134Asp	p.E134D	ENST00000264674	NM_001105077.3	134	gaG/gaC	0	not done		benign	
SPDL1		inserm.fr	GRCh37	5	169025512	169025512	+	synonymous_variant	Silent	SNP	A	G	G			CHC796T																					ENST00000265295.4:c.1065A>G	p.Ser355=	p.S355=	ENST00000265295	NM_017785.4	355	tcA/tcG	0	validated		synonymous	
PXDN		inserm.fr	GRCh37	2	1691411	1691411	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1044T																					ENST00000252804.4:c.409G>C	p.Glu137Gln	p.E137Q	ENST00000252804	NM_012293.1	137	Gag/Cag	0	not done		probablydamaging	
DOCK2		inserm.fr	GRCh37	5	169141397	169141397	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1616T																					ENST00000256935.8:c.1877A>G	p.Lys626Arg	p.K626R	ENST00000256935	NM_004946.2	626	aAg/aGg	0	not done		benign	
DDX60L		inserm.fr	GRCh37	4	169322114	169322114	+	synonymous_variant	Silent	SNP	A	G	G			CHC1154T																					ENST00000260184.7:c.3354T>C	p.Asp1118=	p.D1118=	ENST00000260184	NM_001012967.1	1118	gaT/gaC	0	not done		synonymous	
DDX60L		inserm.fr	GRCh37	4	169337875	169337875	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC609T									Valid												ENST00000260184.7:c.2684T>C	p.Leu895Ser	p.L895S	ENST00000260184	NM_001012967.1	895	tTg/tCg	0	validated		probablydamaging	
BLZF1		inserm.fr	GRCh37	1	169346180	169346180	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1556T																					ENST00000367808.3:c.431A>G	p.Lys144Arg	p.K144R	ENST00000367808		144	aAa/aGa	0	not done		benign	
NLGN4Y		inserm.fr	GRCh37	Y	16942087	16942087	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC303T																					ENST00000355905.2:c.1289A>G	p.Lys430Arg	p.K430R	ENST00000355905	NM_014893.4	430	aAg/aGg	0	validated		benign	
NLGN4Y		inserm.fr	GRCh37	Y	16952444	16952444	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC361TA																					ENST00000355905.2:c.1753A>G	p.Thr585Ala	p.T585A	ENST00000355905	NM_014893.4	585	Acg/Gcg	0	validated		benign	
CERS6		inserm.fr	GRCh37	2	169551512	169551512	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1183T																					ENST00000392687.4:c.560C>G	p.Ser187Trp	p.S187W	ENST00000392687	NM_001256126.1	187	tCg/tGg	0	not done		probablydamaging	
CERS6		inserm.fr	GRCh37	2	169571580	169571580	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC304T																					ENST00000392687.4:c.679A>G	p.Met227Val	p.M227V	ENST00000392687	NM_001256126.1	227	Atg/Gtg	0	validated		possiblydamaging	
SAMD7		inserm.fr	GRCh37	3	169642907	169642907	+	synonymous_variant	Silent	SNP	A	G	G			CHC304T																					ENST00000428432.2:c.273A>G	p.Gln91=	p.Q91=	ENST00000428432	NM_182610.2	91	caA/caG	0	validated		synonymous	
CUBN		inserm.fr	GRCh37	10	16975181	16975181	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC314T									Valid												ENST00000377833.4:c.6029T>C	p.Ile2010Thr	p.I2010T	ENST00000377833	NM_001081.3	2010	aTc/aCc	0	validated		probablydamaging	
ABCB11		inserm.fr	GRCh37	2	169847436	169847436	+	splice_acceptor_variant	Splice_Site	SNP	C	G	G			BCM257T																					ENST00000263817.6:c.784-1G>C		p.X262_splice	ENST00000263817	NM_003742.2			0	validated		damaging	
ABCB11		inserm.fr	GRCh37	2	169853234	169853234	+	splice_acceptor_variant	Splice_Site	SNP	T	G	G			BCB109T									Valid												ENST00000263817.6:c.390-2A>C		p.X130_splice	ENST00000263817	NM_003742.2			0	validated		damaging	
KIFAP3		inserm.fr	GRCh37	1	169993636	169993636	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1629T																					ENST00000361580.2:c.943G>C	p.Asp315His	p.D315H	ENST00000361580	NM_014970.3	315	Gac/Cac	0	not done		probablydamaging	
PRKCI		inserm.fr	GRCh37	3	170002341	170002341	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1604T																					ENST00000295797.4:c.1160A>G	p.Asp387Gly	p.D387G	ENST00000295797	NM_002740.5	387	gAc/gGc	0	not done		probablydamaging	
ZDHHC2		inserm.fr	GRCh37	8	17014282	17014282	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1082T																					ENST00000262096.8:c.50T>G	p.Val17Gly	p.V17G	ENST00000262096	NM_016353.4	17	gTg/gGg	0	validated		benign	
TCTE3		inserm.fr	GRCh37	6	170143297	170143297	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1739T																					ENST00000366774.3:c.365T>C	p.Phe122Ser	p.F122S	ENST00000366774	NM_174910.1	122	tTc/tCc	0	not done		benign	
KCNIP1		inserm.fr	GRCh37	5	170148850	170148850	+	stop_gained	Nonsense_Mutation	SNP	T	G	G			CHC1010T																					ENST00000411494.1:c.303T>G	p.Tyr101Ter	p.Y101*	ENST00000411494		101	taT/taG	0	not done		damaging	
BBS5		inserm.fr	GRCh37	2	170350306	170350306	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2200T																					ENST00000295240.3:c.578T>G	p.Met193Arg	p.M193R	ENST00000295240	NM_152384.2	193	aTg/aGg	0	not done			
NEK1		inserm.fr	GRCh37	4	170354810	170354810	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1545T																					ENST00000507142.1:c.2771A>C	p.Asp924Ala	p.D924A	ENST00000507142	NM_001199397.1	924	gAt/gCt	0	not done		probablydamaging	
PLCL2		inserm.fr	GRCh37	3	17052195	17052195	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC326T									Valid												ENST00000418129.2:c.979C>G	p.Pro327Ala	p.P327A	ENST00000418129	NM_001144382.1	327	Ccc/Gcc	0	validated		probablydamaging	
SLC2A2		inserm.fr	GRCh37	3	170723204	170723204	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1775T																					ENST00000314251.3:c.833A>C	p.Lys278Thr	p.K278T	ENST00000314251	NM_001278659.1	278	aAa/aCa	0	validated		probablydamaging	
CCT8L2		inserm.fr	GRCh37	22	17072407	17072407	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1061T									Valid												ENST00000359963.3:c.1034G>C	p.Gly345Ala	p.G345A	ENST00000359963	NM_014406.4	345	gGc/gCc	0	validated		probablydamaging	
MROH9		inserm.fr	GRCh37	1	170934326	170934326	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1052T																					ENST00000367759.4:c.410A>G	p.Tyr137Cys	p.Y137C	ENST00000367759	NM_001163629.1	137	tAt/tGt	0	validated		probablydamaging	
FMO4		inserm.fr	GRCh37	1	171310897	171310897	+	synonymous_variant	Silent	SNP	A	G	G			BCM739T																					ENST00000367749.3:c.1596A>G	p.Lys532=	p.K532=	ENST00000367749	NM_002022.1	532	aaA/aaG	0	validated		synonymous	
SP5		inserm.fr	GRCh37	2	171573478	171573478	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM325T									Valid												ENST00000375281.3:c.761T>G	p.Ile254Ser	p.I254S	ENST00000375281	NM_001003845.2	254	aTc/aGc	0	validated		probablydamaging	
FNDC3B		inserm.fr	GRCh37	3	171851299	171851299	+	synonymous_variant	Silent	SNP	A	G	G			CHC1148T																					ENST00000336824.4:c.150A>G	p.Thr50=	p.T50=	ENST00000336824	NM_001135095.1	50	acA/acG	0	not done		synonymous	
TLK1		inserm.fr	GRCh37	2	171863026	171863026	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC302T									Valid												ENST00000431350.2:c.1726A>C	p.Asn576His	p.N576H	ENST00000431350		576	Aat/Cat	0	validated		probablydamaging	
FNDC3B		inserm.fr	GRCh37	3	172080439	172080439	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1595T																					ENST00000336824.4:c.2812A>G	p.Ile938Val	p.I938V	ENST00000336824	NM_001135095.1	938	Ata/Gta	0	validated		benign	
USP25		inserm.fr	GRCh37	21	17214800	17214800	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1545T																					ENST00000285679.6:c.2278A>G	p.Ile760Val	p.I760V	ENST00000285679	NM_013396.3	760	Ata/Gta	0	not done		benign	
PIGC		inserm.fr	GRCh37	1	172411455	172411455	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2098T																					ENST00000367728.1:c.308T>C	p.Ile103Thr	p.I103T	ENST00000367728		103	aTt/aCt	0	not done		benign	
CROCC		inserm.fr	GRCh37	1	17249237	17249237	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM545T									Valid												ENST00000375541.5:c.140T>G	p.Leu47Arg	p.L47R	ENST00000375541	NM_014675.3	47	cTg/cGg	0	validated		probablydamaging	
SUCO		inserm.fr	GRCh37	1	172571223	172571223	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2103T																					ENST00000263688.3:c.3038A>G	p.Tyr1013Cys	p.Y1013C	ENST00000263688	NM_014283.3	1013	tAt/tGt	0	not done		probablydamaging	
FASLG		inserm.fr	GRCh37	1	172633498	172633498	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1717T																					ENST00000367721.2:c.419A>G	p.Lys140Arg	p.K140R	ENST00000367721	NM_000639.1	140	aAa/aGa	0	not done		probablydamaging	
STC2		inserm.fr	GRCh37	5	172755151	172755151	+	synonymous_variant	Silent	SNP	A	G	G			BCM399T																					ENST00000265087.4:c.46T>C	p.Leu16=	p.L16=	ENST00000265087	NM_003714.2	16	Ttg/Ctg	0	validated		synonymous	
VIM		inserm.fr	GRCh37	10	17277300	17277300	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC433T									Valid												ENST00000544301.1:c.1141C>G	p.Arg381Gly	p.R381G	ENST00000544301	NM_003380.3	381	Cgt/Ggt	0	validated		possiblydamaging	
HAT1		inserm.fr	GRCh37	2	172809443	172809443	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM739T																					ENST00000264108.4:c.233A>G	p.Tyr78Cys	p.Y78C	ENST00000264108	NM_003642.3	78	tAt/tGt	0	validated		probablydamaging	
HAT1		inserm.fr	GRCh37	2	172823364	172823364	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	G	G			CHC051T									Valid												ENST00000264108.4:c.717T>G	p.Ser239Arg	p.S239R	ENST00000264108	NM_003642.3	239	agT/agG	0	validated		probablydamaging	
MYO9B		inserm.fr	GRCh37	19	17298846	17298846	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC793T																					ENST00000595618.1:c.2680A>G	p.Thr894Ala	p.T894A	ENST00000595618	NM_001130065.1	894	Acg/Gcg	0	validated		possiblydamaging	
NUCB2		inserm.fr	GRCh37	11	17323308	17323308	+	synonymous_variant	Silent	SNP	A	G	G			CHC1611T																					ENST00000529010.1:c.270A>G	p.Lys90=	p.K90=	ENST00000529010	NM_005013.2	90	aaA/aaG	0	not done		synonymous	
ST8SIA6		inserm.fr	GRCh37	10	17360702	17360702	+	downstream_gene_variant	3'Flank	SNP	T	G	G			CHC1725T																								ENST00000377602	NM_001004470.1			0	not done			
KLHL20		inserm.fr	GRCh37	1	173744872	173744872	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2362T																					ENST00000209884.4:c.1529A>G	p.Tyr510Cys	p.Y510C	ENST00000209884	NM_014458.3	510	tAt/tGt	0	validated		probablydamaging	
ABCC8		inserm.fr	GRCh37	11	17418778	17418778	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1602T																					ENST00000389817.3:c.3950T>C	p.Leu1317Pro	p.L1317P	ENST00000389817		1317	cTc/cCc	0	not done		probablydamaging	
GPR52		inserm.fr	GRCh37	1	174417727	174417727	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC805T																					ENST00000367685.2:c.478A>G	p.Ile160Val	p.I160V	ENST00000367685	NM_005684.4	160	Att/Gtt	0	not done		benign	
RABGAP1L		inserm.fr	GRCh37	1	174959011	174959011	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1751T																					ENST00000325589.5:c.950T>G	p.Leu317Arg	p.L317R	ENST00000325589		317	cTt/cGt	0	not done			
HRH2		inserm.fr	GRCh37	5	175110759	175110759	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1148T																					ENST00000377291.2:c.523A>G	p.Lys175Glu	p.K175E	ENST00000377291	NM_001131055.1	175	Aaa/Gaa	0	not done		benign	
BFSP1		inserm.fr	GRCh37	20	17511929	17511929	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM545T																					ENST00000377873.3:c.46G>C	p.Glu16Gln	p.E16Q	ENST00000377873	NM_001195.3	16	Gag/Cag	0	validated		probablydamaging	
CIR1		inserm.fr	GRCh37	2	175215436	175215436	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1750T																					ENST00000342016.3:c.629T>C	p.Val210Ala	p.V210A	ENST00000342016	NM_004882.3	210	gTt/gCt	0	not done		probablydamaging	
GLRA3		inserm.fr	GRCh37	4	175710056	175710056	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC912T																					ENST00000274093.3:c.110G>C	p.Arg37Pro	p.R37P	ENST00000274093	NM_006529.2	37	cGa/cCa	0	validated		possiblydamaging	
OTOG		inserm.fr	GRCh37	11	17598120	17598120	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1774T																					ENST00000399391.2:c.2540A>G	p.His847Arg	p.H847R	ENST00000399391	NM_001277269.1	847	cAc/cGc	0	validated			
NUP153		inserm.fr	GRCh37	6	17629242	17629242	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2351T																					ENST00000262077.2:c.3188T>C	p.Phe1063Ser	p.F1063S	ENST00000262077	NM_001278210.1	1063	tTc/tCc	0	not done		possiblydamaging	
ZNF346		inserm.fr	GRCh37	5	176468166	176468166	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1085T																					ENST00000358149.3:c.215A>G	p.Asn72Ser	p.N72S	ENST00000358149	NM_012279.2	72	aAc/aGc	0	validated		benign	
NSD1		inserm.fr	GRCh37	5	176638291	176638291	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1725T																					ENST00000439151.2:c.2891A>G	p.Asn964Ser	p.N964S	ENST00000439151	NM_022455.4	964	aAt/aGt	0	not done		benign	
PAPPA2		inserm.fr	GRCh37	1	176679208	176679208	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC909T																					ENST00000367662.3:c.3547A>G	p.Thr1183Ala	p.T1183A	ENST00000367662	NM_020318.2	1183	Act/Gct	0	not done		possiblydamaging	
NSD1		inserm.fr	GRCh37	5	176710822	176710822	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2103T																					ENST00000439151.2:c.6044A>G	p.Tyr2015Cys	p.Y2015C	ENST00000439151	NM_022455.4	2015	tAt/tGt	0	not done		probablydamaging	
DBN1		inserm.fr	GRCh37	5	176885333	176885333	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2113T																					ENST00000292385.5:c.1508G>C	p.Gly503Ala	p.G503A	ENST00000292385	NM_080881.2	503	gGt/gCt	0	not done		probablydamaging	
DDX41		inserm.fr	GRCh37	5	176942705	176942705	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC917T																					ENST00000507955.1:c.552G>C	p.Lys184Asn	p.K184N	ENST00000507955	NM_016222.2	184	aaG/aaC	0	validated		benign	
B4GALT7		inserm.fr	GRCh37	5	177031360	177031360	+	synonymous_variant	Silent	SNP	A	G	G			BCM759T																					ENST00000029410.5:c.231A>G	p.Pro77=	p.P77=	ENST00000029410	NM_007255.2	77	ccA/ccG	0	validated		synonymous	
UNC13A		inserm.fr	GRCh37	19	17756526	17756526	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2141T																					ENST00000519716.2:c.2313G>C	p.Glu771Asp	p.E771D	ENST00000519716	NM_001080421.2	771	gaG/gaC	0	not done		benign	
AGXT2L2		inserm.fr	GRCh37	5	177651701	177651701	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1725T																					ENST00000308158.5:c.443T>C	p.Ile148Thr	p.I148T	ENST00000308158	NM_001278346.1	148	aTt/aCt	0	not done		possiblydamaging	
KCNC1		inserm.fr	GRCh37	11	17793251	17793251	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1052T																					ENST00000265969.6:c.610A>G	p.Ile204Val	p.I204V	ENST00000265969	NM_001112741.1	204	Atc/Gtc	0	validated		possiblydamaging	
KCNC1		inserm.fr	GRCh37	11	17793743	17793743	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000265969.6:c.1102A>G	p.Arg368Gly	p.R368G	ENST00000265969	NM_001112741.1	368	Agg/Ggg	0	validated		probablydamaging	
NFE2L2		inserm.fr	GRCh37	2	178098789	178098789	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC614T									Valid												ENST00000397062.3:c.256A>C	p.Ile86Leu	p.I86L	ENST00000397062	NM_006164.4	86	Att/Ctt	0	validated		benign	
NFE2L2		inserm.fr	GRCh37	2	178098799	178098799	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1040T									Valid												ENST00000397062.3:c.246A>C	p.Glu82Asp	p.E82D	ENST00000397062	NM_006164.4	82	gaA/gaC	0	not done		probablydamaging	
NFE2L2		inserm.fr	GRCh37	2	178098807	178098807	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1041T									Valid												ENST00000397062.3:c.238A>C	p.Thr80Pro	p.T80P	ENST00000397062	NM_006164.4	80	Aca/Cca	0	validated		probablydamaging	
NFE2L2		inserm.fr	GRCh37	2	178098960	178098960	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1190T									Valid												ENST00000397062.3:c.85G>C	p.Asp29His	p.D29H	ENST00000397062	NM_006164.4	29	Gat/Cat	0	validated		damaging	
NEIL3		inserm.fr	GRCh37	4	178256867	178256867	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1741T																					ENST00000264596.3:c.304A>G	p.Ile102Val	p.I102V	ENST00000264596	NM_018248.2	102	Atc/Gtc	0	not done		benign	
ZFP2		inserm.fr	GRCh37	5	178358703	178358703	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC961T									Valid												ENST00000361362.2:c.389A>G	p.Tyr130Cys	p.Y130C	ENST00000361362	NM_030613.2	130	tAt/tGt	0	validated		probablydamaging	
ZNF454		inserm.fr	GRCh37	5	178392593	178392593	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T									Valid												ENST00000320129.3:c.1188T>G	p.Asn396Lys	p.N396K	ENST00000320129	NM_182594.2	396	aaT/aaG	0	validated		benign	
TTC30A		inserm.fr	GRCh37	2	178482661	178482661	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1715T																					ENST00000355689.5:c.769A>C	p.Lys257Gln	p.K257Q	ENST00000355689	NM_152275.3	257	Aag/Cag	0	not done		possiblydamaging	
ADAMTS2		inserm.fr	GRCh37	5	178567029	178567029	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM375T									Valid												ENST00000251582.7:c.1637T>C	p.Phe546Ser	p.F546S	ENST00000251582	NM_014244.4	546	tTt/tCt	0	validated		probablydamaging	
PDE11A		inserm.fr	GRCh37	2	178936473	178936473	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1715T																					ENST00000286063.6:c.692T>C	p.Leu231Pro	p.L231P	ENST00000286063	NM_016953.3	231	cTt/cCt	0	not done		probablydamaging	
PIK3CA		inserm.fr	GRCh37	3	178943781	178943781	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2110Tbis																					ENST00000263967.3:c.2448T>G	p.Ile816Met	p.I816M	ENST00000263967	NM_006218.2	816	atT/atG	0	not done		benign	
PIK3CA		inserm.fr	GRCh37	3	178952085	178952085	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000263967.3:c.3140A>G	p.His1047Arg	p.H1047R	ENST00000263967	NM_006218.2	1047	cAt/cGt	0	validated		possiblydamaging	
PIK3CA		inserm.fr	GRCh37	3	178952085	178952085	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1708T									Valid												ENST00000263967.3:c.3140A>G	p.His1047Arg	p.H1047R	ENST00000263967	NM_006218.2	1047	cAt/cGt	0	not done		damaging	
RUFY1		inserm.fr	GRCh37	5	179025756	179025756	+	synonymous_variant	Silent	SNP	A	G	G			BCM759T																					ENST00000319449.4:c.1695A>G	p.Leu565=	p.L565=	ENST00000319449	NM_025158.4	565	ttA/ttG	0	validated		synonymous	
HNRNPH1		inserm.fr	GRCh37	5	179046337	179046337	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000356731.5:c.469G>C	p.Val157Leu	p.V157L	ENST00000356731		157	Gtg/Ctg	0	not done		probablydamaging	
MFN1		inserm.fr	GRCh37	3	179085851	179085851	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC912T																					ENST00000471841.1:c.935C>G	p.Ala312Gly	p.A312G	ENST00000471841	NM_033540.2	312	gCa/gGa	0	validated		benign	
MFN1		inserm.fr	GRCh37	3	179094895	179094895	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC794T																					ENST00000471841.1:c.1163A>G	p.Asn388Ser	p.N388S	ENST00000471841	NM_033540.2	388	aAc/aGc	0	validated		benign	
ACTL6A		inserm.fr	GRCh37	3	179298434	179298434	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1603T																					ENST00000429709.2:c.775A>G	p.Ile259Val	p.I259V	ENST00000429709	NM_004301.3	259	Atc/Gtc	0	not done		benign	
PRKRA		inserm.fr	GRCh37	2	179301040	179301040	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1595T																					ENST00000325748.4:c.616G>C	p.Val206Leu	p.V206L	ENST00000325748	NM_003690.4	206	Gta/Cta	0	validated		benign	
SNX13		inserm.fr	GRCh37	7	17933033	17933033	+	synonymous_variant	Silent	SNP	A	G	G			BCM397T																					ENST00000428135.3:c.150T>C	p.Phe50=	p.F50=	ENST00000428135	NM_015132.4	50	ttT/ttC	0	validated		synonymous	
PLEKHA3		inserm.fr	GRCh37	2	179355387	179355387	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	G	G			CHC1756T																					ENST00000234453.5:c.159T>G	p.Val53=	p.V53=	ENST00000234453	NM_019091.3	53	gtT/gtG	0	not done		damaging	
TTN		inserm.fr	GRCh37	2	179410819	179410819	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1569T																					ENST00000589042.1:c.95144T>C	p.Leu31715Pro	p.L31715P	ENST00000589042	NM_001267550.1	31715	cTc/cCc	0	not done		probablydamaging	
TTN		inserm.fr	GRCh37	2	179412154	179412154	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1040T																					ENST00000589042.1:c.94199T>C	p.Ile31400Thr	p.I31400T	ENST00000589042	NM_001267550.1	31400	aTa/aCa	0	not done		probablydamaging	
TTN		inserm.fr	GRCh37	2	179412583	179412583	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM501T																					ENST00000589042.1:c.93770A>C	p.Lys31257Thr	p.K31257T	ENST00000589042	NM_001267550.1	31257	aAa/aCa	0	validated		probablydamaging	
TTN		inserm.fr	GRCh37	2	179422139	179422139	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T																					ENST00000589042.1:c.87850T>C	p.Trp29284Arg	p.W29284R	ENST00000589042	NM_001267550.1	29284	Tgg/Cgg	0	validated		probablydamaging	
TTN		inserm.fr	GRCh37	2	179424737	179424737	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM337T																					ENST00000589042.1:c.86122A>C	p.Thr28708Pro	p.T28708P	ENST00000589042	NM_001267550.1	28708	Aca/Cca	0	validated		probablydamaging	
TTN		inserm.fr	GRCh37	2	179427248	179427248	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2206T																					ENST00000589042.1:c.83611A>C	p.Thr27871Pro	p.T27871P	ENST00000589042	NM_001267550.1	27871	Act/Cct	0	not done		possiblydamaging	
TTN		inserm.fr	GRCh37	2	179438472	179438472	+	synonymous_variant	Silent	SNP	A	G	G			BCM375T																					ENST00000589042.1:c.72387T>C	p.Pro24129=	p.P24129=	ENST00000589042	NM_001267550.1	24129	ccT/ccC	0	validated		synonymous	
TTN		inserm.fr	GRCh37	2	179438553	179438553	+	synonymous_variant	Silent	SNP	A	G	G			BCM723T																					ENST00000589042.1:c.72306T>C	p.Leu24102=	p.L24102=	ENST00000589042	NM_001267550.1	24102	ctT/ctC	0	validated		synonymous	
JAK3		inserm.fr	GRCh37	19	17945445	17945445			NA		A	G				CHC327T									Valid																				validated			
TTN		inserm.fr	GRCh37	2	179454520	179454520	+	synonymous_variant	Silent	SNP	T	G	G			CHC1715T																					ENST00000589042.1:c.61932A>C	p.Ala20644=	p.A20644=	ENST00000589042	NM_001267550.1	20644	gcA/gcC	0	not done		synonymous	
TTN		inserm.fr	GRCh37	2	179463707	179463707	+	synonymous_variant	Silent	SNP	A	G	G			CHC1775T																					ENST00000589042.1:c.56730T>C	p.Tyr18910=	p.Y18910=	ENST00000589042	NM_001267550.1	18910	taT/taC	0	validated		synonymous	
AXDND1		inserm.fr	GRCh37	1	179478468	179478468	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC301T																					ENST00000367618.3:c.2426T>G	p.Leu809Arg	p.L809R	ENST00000367618	NM_144696.5	809	cTc/cGc	0	validated		probablydamaging	
TTN		inserm.fr	GRCh37	2	179486406	179486406	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC794T																					ENST00000589042.1:c.45145A>C	p.Lys15049Gln	p.K15049Q	ENST00000589042	NM_001267550.1	15049	Aaa/Caa	0	validated		probablydamaging	
TTN		inserm.fr	GRCh37	2	179486730	179486730	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1743T																					ENST00000589042.1:c.44919G>C	p.Lys14973Asn	p.K14973N	ENST00000589042	NM_001267550.1	14973	aaG/aaC	0	not done		benign	
USP13		inserm.fr	GRCh37	3	179499571	179499571	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1148T																					ENST00000263966.3:c.2458A>G	p.Met820Val	p.M820V	ENST00000263966	NM_003940.2	820	Atg/Gtg	0	not done		probablydamaging	
TTN		inserm.fr	GRCh37	2	179511214	179511214	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	G	G			CHC2358T																					ENST00000589042.1:c.40295A>C	p.Lys13432Thr	p.K13432T	ENST00000589042	NM_001267550.1	13432	aAa/aCa	0	validated		benign	
TTN		inserm.fr	GRCh37	2	179590501	179590501	+	synonymous_variant	Silent	SNP	A	G	G			CHC1041T																					ENST00000589042.1:c.20548T>C	p.Leu6850=	p.L6850=	ENST00000589042	NM_001267550.1	6850	Ttg/Ctg	0	validated		synonymous	
TTN		inserm.fr	GRCh37	2	179594646	179594646	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1568T																					ENST00000589042.1:c.18334A>C	p.Ser6112Arg	p.S6112R	ENST00000589042	NM_001267550.1	6112	Agt/Cgt	0	not done		possiblydamaging	
TTN		inserm.fr	GRCh37	2	179597830	179597830	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1700T																					ENST00000589042.1:c.16073T>C	p.Phe5358Ser	p.F5358S	ENST00000589042	NM_001267550.1	5358	tTt/tCt	0	not done		benign	
TTN		inserm.fr	GRCh37	2	179612394	179612394	+	intron_variant	Intron	SNP	A	G	G			CHC1569T																					ENST00000589042.1:c.11311+5457T>C		*3771*	ENST00000589042	NM_001267550.1			0	not done		synonymous	
GEN1		inserm.fr	GRCh37	2	17961938	17961938	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC898T																					ENST00000381254.2:c.1459T>G	p.Phe487Val	p.F487V	ENST00000381254	NM_001130009.1	487	Ttt/Gtt	0	not done		benign	
MYT1L		inserm.fr	GRCh37	2	1796202	1796202	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC218T																					ENST00000428368.2:c.3305A>C	p.Glu1102Ala	p.E1102A	ENST00000428368		1102	gAa/gCa	0	validated		probablydamaging	
GEN1		inserm.fr	GRCh37	2	17962594	17962594	+	synonymous_variant	Silent	SNP	A	G	G			BCM275T																					ENST00000381254.2:c.2115A>G	p.Glu705=	p.E705=	ENST00000381254	NM_001130009.1	705	gaA/gaG	0	validated		synonymous	
TTN		inserm.fr	GRCh37	2	179629008	179629008			NA		A	G				CHC609T																													validated			
TTN		inserm.fr	GRCh37	2	179643675	179643675	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1629T																					ENST00000589042.1:c.4134A>C	p.Lys1378Asn	p.K1378N	ENST00000589042	NM_001267550.1	1378	aaA/aaC	0	not done		probablydamaging	
TTN		inserm.fr	GRCh37	2	179666918	179666918	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1731T																					ENST00000589042.1:c.242A>C	p.Lys81Thr	p.K81T	ENST00000589042	NM_001267550.1	81	aAa/aCa	0	not done		benign	
MGME1		inserm.fr	GRCh37	20	17968829	17968829	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC909T																					ENST00000377710.5:c.752A>G	p.Asp251Gly	p.D251G	ENST00000377710	NM_052865.2	251	gAt/gGt	0	not done		probablydamaging	
CCDC141		inserm.fr	GRCh37	2	179721003	179721003	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC304T																					ENST00000420890.2:c.2846T>C	p.Met949Thr	p.M949T	ENST00000420890	NM_173648.3	949	aTg/aCg	0	validated		benign	
CCDC141		inserm.fr	GRCh37	2	179721076	179721076	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1708T																					ENST00000420890.2:c.2773T>C	p.Phe925Leu	p.F925L	ENST00000420890	NM_173648.3	925	Ttt/Ctt	0	not done		probablydamaging	
TOR1AIP1		inserm.fr	GRCh37	1	179883149	179883149	+	synonymous_variant	Silent	SNP	A	G	G			BCM399T																					ENST00000606911.2:c.924A>G	p.Lys308=	p.K308=	ENST00000606911		308	aaA/aaG	0	validated		synonymous	
CECR2		inserm.fr	GRCh37	22	18022348	18022348	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC793T									Valid												ENST00000262608.8:c.2453A>G	p.Tyr818Cys	p.Y818C	ENST00000262608	NM_031413.3	818	tAc/tGc	0	validated		probablydamaging	
PRPS1L1		inserm.fr	GRCh37	7	18066499	18066499	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T									Valid												ENST00000506618.2:c.907A>C	p.Thr303Pro	p.T303P	ENST00000506618	NM_175886.2	303	Act/Cct	0	validated		probablydamaging	
ALKBH5		inserm.fr	GRCh37	17	18111543	18111543	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC302T									Valid												ENST00000399138.4:c.1018C>G	p.Leu340Val	p.L340V	ENST00000399138	NM_017758.3	340	Ctg/Gtg	0	validated		probablydamaging	
UBE2E3		inserm.fr	GRCh37	2	181846881	181846881	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC909T																					ENST00000410062.4:c.112A>G	p.Arg38Gly	p.R38G	ENST00000410062	NM_006357.3	38	Aga/Gga	0	not done		possiblydamaging	
MAST3		inserm.fr	GRCh37	19	18255431	18255431	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC805T																					ENST00000262811.6:c.2653A>G	p.Ser885Gly	p.S885G	ENST00000262811	NM_015016.1	885	Agt/Ggt	0	not done		benign	
RNASEL		inserm.fr	GRCh37	1	182555729	182555729	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM759T																					ENST00000367559.3:c.213G>C	p.Arg71Ser	p.R71S	ENST00000367559	NM_021133.3	71	agG/agC	0	validated		benign	
ATP11B		inserm.fr	GRCh37	3	182576989	182576989	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1053T									Valid												ENST00000323116.5:c.1042C>G	p.Leu348Val	p.L348V	ENST00000323116	NM_014616.2	348	Ctc/Gtc	0	validated		probablydamaging	
SSFA2		inserm.fr	GRCh37	2	182757389	182757389	+	splice_donor_variant	Splice_Site	SNP	T	G	G			CHC1205T																					ENST00000431877.2:c.257+2T>G		p.X86_splice	ENST00000431877	NM_001130445.1			0	not done		possiblydamaging	
SLC39A12		inserm.fr	GRCh37	10	18282197	18282197	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM339T																					ENST00000377369.2:c.1510A>G	p.Lys504Glu	p.K504E	ENST00000377369	NM_001145195.1	504	Aaa/Gaa	0	validated		possiblydamaging	
DHX9		inserm.fr	GRCh37	1	182827980	182827980	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2215T																					ENST00000367549.3:c.1013A>G	p.Asn338Ser	p.N338S	ENST00000367549	NM_001357.4	338	aAc/aGc	0	not done		probablydamaging	
DHX9		inserm.fr	GRCh37	1	182853755	182853755	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1744T																					ENST00000367549.3:c.3268C>G	p.Leu1090Val	p.L1090V	ENST00000367549	NM_001357.4	1090	Ctg/Gtg	0	not done		possiblydamaging	
SLC39A12		inserm.fr	GRCh37	10	18289690	18289690	+	synonymous_variant	Silent	SNP	A	G	G			CHC1531T																					ENST00000377369.2:c.1695A>G	p.Ser565=	p.S565=	ENST00000377369	NM_001145195.1	565	tcA/tcG	0	not done		synonymous	
MPV17L2		inserm.fr	GRCh37	19	18305843	18305843	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2127T																					ENST00000599612.2:c.511A>G	p.Ile171Val	p.I171V	ENST00000599612	NM_032683.2	171	Atc/Gtc	0	not done		benign	
LAMC1		inserm.fr	GRCh37	1	183072566	183072566	+	synonymous_variant	Silent	SNP	T	G	G			CHC1061T																					ENST00000258341.4:c.522T>G	p.Pro174=	p.P174=	ENST00000258341	NM_002293.3	174	ccT/ccG	0	validated		synonymous	
NMNAT2		inserm.fr	GRCh37	1	183247761	183247761	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000287713.6:c.578T>C	p.Leu193Pro	p.L193P	ENST00000287713	NM_015039.3	193	cTa/cCa	0	not done		probablydamaging	
TENM3		inserm.fr	GRCh37	4	183601797	183601797	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC892T																					ENST00000511685.1:c.1741C>G	p.Gln581Glu	p.Q581E	ENST00000511685		581	Cag/Gag	0	not done		benign	
EIF2B5		inserm.fr	GRCh37	3	183861894	183861894	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2113T																					ENST00000273783.3:c.1877A>G	p.Lys626Arg	p.K626R	ENST00000273783	NM_003907.2	626	aAg/aGg	0	not done		benign	
TRAPPC11		inserm.fr	GRCh37	4	184614244	184614244	+	synonymous_variant	Silent	SNP	T	G	G			CHC313T																					ENST00000334690.6:c.2181T>G	p.Pro727=	p.P727=	ENST00000334690	NM_021942.5	727	ccT/ccG	0	validated		synonymous	
TRAPPC11		inserm.fr	GRCh37	4	184615758	184615758	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	G	G			CHC1756T																					ENST00000334690.6:c.2510T>G	p.Leu837Arg	p.L837R	ENST00000334690	NM_021942.5	837	cTg/cGg	0	not done		damaging	
PIK3C2G		inserm.fr	GRCh37	12	18496266	18496266	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2029T																					ENST00000266497.5:c.1401T>G	p.Phe467Leu	p.F467L	ENST00000266497		467	ttT/ttG	0	not done		benign	
LDHAL6A		inserm.fr	GRCh37	11	18497172	18497172	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC432T																					ENST00000280706.2:c.578A>G	p.His193Arg	p.H193R	ENST00000280706	NM_144972.4	193	cAt/cGt	0	not done		probablydamaging	
MAP3K13		inserm.fr	GRCh37	3	185165731	185165731	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC314T																					ENST00000265026.3:c.1006A>G	p.Ile336Val	p.I336V	ENST00000265026	NM_004721.4	336	Ata/Gta	0	validated		benign	
ZNF286B		inserm.fr	GRCh37	17	18566107	18566107	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1624T																					ENST00000545289.1:c.712T>C	p.Tyr238His	p.Y238H	ENST00000545289	NM_001145045.1	238	Tat/Cat	0	validated		benign	
ADAMTSL1		inserm.fr	GRCh37	9	18574050	18574050	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC121T									Valid												ENST00000380548.4:c.260A>G	p.Asp87Gly	p.D87G	ENST00000380548	NM_001040272.5	87	gAt/gGt	0	validated		probablydamaging	
ZNF804A		inserm.fr	GRCh37	2	185801622	185801622	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC703T																					ENST00000302277.6:c.1499A>G	p.Tyr500Cys	p.Y500C	ENST00000302277	NM_194250.1	500	tAc/tGc	0	validated		benign	
HMCN1		inserm.fr	GRCh37	1	185894216	185894216	+	synonymous_variant	Silent	SNP	A	G	G			CHC1747T																					ENST00000271588.4:c.1323A>G	p.Gly441=	p.G441=	ENST00000271588	NM_031935.2	441	ggA/ggG	0	not done		synonymous	
HMCN1		inserm.fr	GRCh37	1	185970496	185970496	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2029T																					ENST00000271588.4:c.4136A>G	p.Asn1379Ser	p.N1379S	ENST00000271588	NM_031935.2	1379	aAt/aGt	0	not done		benign	
HMCN1		inserm.fr	GRCh37	1	185985311	185985311	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB109T																					ENST00000271588.4:c.5131A>G	p.Ile1711Val	p.I1711V	ENST00000271588	NM_031935.2	1711	Ata/Gta	0	validated		benign	
HMCN1		inserm.fr	GRCh37	1	186044003	186044003	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC197T																					ENST00000271588.4:c.8270A>G	p.Asp2757Gly	p.D2757G	ENST00000271588	NM_031935.2	2757	gAt/gGt	0	validated		probablydamaging	
TRIM16L		inserm.fr	GRCh37	17	18630861	18630861	+	5_prime_UTR_variant	5'UTR	SNP	A	G	G			CHC1177T																					ENST00000449552.2:c.-10A>G		*4*	ENST00000449552				0	not done		synonymous	
AHSG		inserm.fr	GRCh37	3	186334265	186334265	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM337T																					ENST00000411641.2:c.358A>G	p.Lys120Glu	p.K120E	ENST00000411641		120	Aaa/Gaa	0	validated		probablydamaging	
C1orf27		inserm.fr	GRCh37	1	186367531	186367531	+	synonymous_variant	Silent	SNP	T	G	G			BCB111T																					ENST00000287859.6:c.867T>G	p.Ala289=	p.A289=	ENST00000287859	NM_017847.5	289	gcT/gcG	0	validated		synonymous	
FSIP2		inserm.fr	GRCh37	2	186671141	186671141	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM399T																					ENST00000343098.5:c.17375T>G	p.Leu5792Arg	p.L5792R	ENST00000343098	NM_173651.2	5792	cTc/cGc	0	validated			
FSIP2		inserm.fr	GRCh37	2	186671751	186671751	+	synonymous_variant	Silent	SNP	A	G	G			CHC1741T																					ENST00000343098.5:c.17985A>G	p.Pro5995=	p.P5995=	ENST00000343098	NM_173651.2	5995	ccA/ccG	0	not done		synonymous	
PLA2G4A		inserm.fr	GRCh37	1	186863249	186863249	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC891T																					ENST00000367466.3:c.284A>G	p.Asn95Ser	p.N95S	ENST00000367466	NM_024420.2	95	aAt/aGt	0	not done		probablydamaging	
TLR3		inserm.fr	GRCh37	4	187003993	187003993	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC465T																					ENST00000296795.3:c.1153A>G	p.Ser385Gly	p.S385G	ENST00000296795	NM_003265.2	385	Agt/Ggt	0	validated		benign	
CRLF1		inserm.fr	GRCh37	19	18707539	18707539	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2200T																					ENST00000392386.3:c.917T>C	p.Val306Ala	p.V306A	ENST00000392386	NM_004750.4	306	gTg/gCg	0	not done		probablydamaging	
FAM149A		inserm.fr	GRCh37	4	187077343	187077343	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	G	G			BCM723T									Valid												ENST00000227065.4:c.573A>G	p.Thr191=	p.T191=	ENST00000227065	NM_015398.2	191	acA/acG	0	validated		damaging	
FAT1		inserm.fr	GRCh37	4	187516967	187516967	+	synonymous_variant	Silent	SNP	A	G	G			CHC891T																					ENST00000441802.2:c.13014T>C	p.Asp4338=	p.D4338=	ENST00000441802	NM_005245.3	4338	gaT/gaC	0	not done		synonymous	
FAM171B		inserm.fr	GRCh37	2	187618715	187618715	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC121T																					ENST00000304698.5:c.951C>G	p.Ile317Met	p.I317M	ENST00000304698	NM_177454.3	317	atC/atG	0	validated		benign	
FAM171B		inserm.fr	GRCh37	2	187626999	187626999	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1568T																					ENST00000304698.5:c.1930A>G	p.Thr644Ala	p.T644A	ENST00000304698	NM_177454.3	644	Act/Gct	0	not done		possiblydamaging	
FAM171B		inserm.fr	GRCh37	2	187627429	187627429	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1600T																					ENST00000304698.5:c.2360A>G	p.Glu787Gly	p.E787G	ENST00000304698	NM_177454.3	787	gAa/gGa	0	not done		benign	
PTPN5		inserm.fr	GRCh37	11	18765648	18765648	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2029T																					ENST00000358540.2:c.196T>C	p.Ser66Pro	p.S66P	ENST00000358540	NM_006906.1	66	Tca/Cca	0	validated		benign	
ARHGEF10		inserm.fr	GRCh37	8	1876734	1876734	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC432T																					ENST00000349830.3:c.2839C>G	p.Pro947Ala	p.P947A	ENST00000349830	NM_014629.2	947	Cct/Gct	0	not done		benign	
KLHL26		inserm.fr	GRCh37	19	18779665	18779665	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1744T																					ENST00000300976.4:c.1458C>G	p.Asp486Glu	p.D486E	ENST00000300976	NM_018316.1	486	gaC/gaG	0	not done		probablydamaging	
CALCRL		inserm.fr	GRCh37	2	188210998	188210998	+	synonymous_variant	Silent	SNP	A	G	G			CHC432T																					ENST00000409998.1:c.1299T>C	p.Ser433=	p.S433=	ENST00000409998		433	agT/agC	0	not done		synonymous	
PLCZ1		inserm.fr	GRCh37	12	18847967	18847967	+	synonymous_variant	Silent	SNP	A	G	G			CHC1148T																					ENST00000266505.7:c.1338T>C	p.Asn446=	p.N446=	ENST00000266505		446	aaT/aaC	0	not done		synonymous	
SMG1		inserm.fr	GRCh37	16	18849752	18849752	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC902T																					ENST00000446231.2:c.7121G>C	p.Arg2374Pro	p.R2374P	ENST00000446231		2374	cGa/cCa	0	not done		probablydamaging	
PLCZ1		inserm.fr	GRCh37	12	18854433	18854433	+	splice_donor_variant	Splice_Site	SNP	A	G	G			CHC889T																					ENST00000266505.7:c.1017+2T>C		p.X339_splice	ENST00000266505				0	not done		possiblydamaging	
CAPZA3		inserm.fr	GRCh37	12	18891203	18891203	+	start_lost	Translation_Start_Site	SNP	A	G	G			CHC1082T																					ENST00000317658.3:c.1A>G	p.Met1?	p.M1?	ENST00000317658	NM_033328.2	1	Atg/Gtg	0	validated		probablydamaging	
ADAMTSL1		inserm.fr	GRCh37	9	18906883	18906883	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1602T																					ENST00000380548.4:c.5155C>G	p.Arg1719Gly	p.R1719G	ENST00000380548	NM_001040272.5	1719	Cgc/Ggc	0	not done		probablydamaging	
PHKA2		inserm.fr	GRCh37	X	18924900	18924900	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000379942.4:c.2630T>C	p.Ile877Thr	p.I877T	ENST00000379942	NM_000292.2	877	aTc/aCc	0	validated		probablydamaging	
UPF1		inserm.fr	GRCh37	19	18975014	18975014	+	synonymous_variant	Silent	SNP	C	G	G			CHC2141T																					ENST00000262803.5:c.2811C>G	p.Ala937=	p.A937=	ENST00000262803	NM_002911.3	937	gcC/gcG	0	not done		synonymous	
GREB1L		inserm.fr	GRCh37	18	18983934	18983934	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2215T																					ENST00000580732.2:c.811A>G	p.Lys271Glu	p.K271E	ENST00000580732		271	Aaa/Gaa	0	not done		probablydamaging	
COL3A1		inserm.fr	GRCh37	2	189868734	189868734	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000304636.3:c.2688C>G	p.Ser896Arg	p.S896R	ENST00000304636	NM_000090.3	896	agC/agG	0	not done		benign	
ARHGEF10		inserm.fr	GRCh37	8	1905288	1905288	+	synonymous_variant	Silent	SNP	C	G	G			CHC909T																					ENST00000349830.3:c.3894C>G	p.Ala1298=	p.A1298=	ENST00000349830	NM_014629.2	1298	gcC/gcG	0	not done		synonymous	
ANKAR		inserm.fr	GRCh37	2	190584453	190584453	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC434T																					ENST00000520309.1:c.2380T>G	p.Cys794Gly	p.C794G	ENST00000520309	NM_144708.3	794	Tgt/Ggt	0	validated		benign	
OSTN		inserm.fr	GRCh37	3	190930350	190930350	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1915T																					ENST00000339051.1:c.29A>G	p.His10Arg	p.H10R	ENST00000339051	NM_198184.1	10	cAt/cGt	0	validated		benign	
CCDC50		inserm.fr	GRCh37	3	191074884	191074884	+	synonymous_variant	Silent	SNP	A	G	G			CHC609T																					ENST00000392456.3:c.57A>G	p.Arg19=	p.R19=	ENST00000392456	NM_178335.2	19	cgA/cgG	0	validated		synonymous	
MFSD6		inserm.fr	GRCh37	2	191302100	191302100	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM723T																					ENST00000392328.1:c.1345T>G	p.Ser449Ala	p.S449A	ENST00000392328	NM_017694.3	449	Tca/Gca	0	validated		benign	
TAS1R2		inserm.fr	GRCh37	1	19175965	19175965	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1154T																					ENST00000375371.3:c.1337T>C	p.Leu446Pro	p.L446P	ENST00000375371	NM_152232.2	446	cTg/cCg	0	not done		probablydamaging	
STAT4		inserm.fr	GRCh37	2	191895729	191895729	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC361TA									Valid												ENST00000392320.2:c.2189A>C	p.Glu730Ala	p.E730A	ENST00000392320	NM_003151.3	730	gAa/gCa	0	validated		possiblydamaging	
CLTCL1		inserm.fr	GRCh37	22	19208932	19208932	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1207T																					ENST00000263200.10:c.2764G>C	p.Glu922Gln	p.E922Q	ENST00000263200	NM_007098.3	922	Gag/Cag	0	not done		probablydamaging	
MYO1B		inserm.fr	GRCh37	2	192228586	192228586	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2115T																					ENST00000392318.3:c.898A>G	p.Ile300Val	p.I300V	ENST00000392318	NM_001130158.1	300	Atc/Gtc	0	not done		benign	
MYO1B		inserm.fr	GRCh37	2	192252082	192252082	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1566T																					ENST00000392318.3:c.1687A>G	p.Asn563Asp	p.N563D	ENST00000392318	NM_001130158.1	563	Aac/Gac	0	not done		probablydamaging	
E2F8		inserm.fr	GRCh37	11	19252308	19252308	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1738T																					ENST00000527884.1:c.1140A>C	p.Lys380Asn	p.K380N	ENST00000527884	NM_001256372.1	380	aaA/aaC	0	not done		probablydamaging	
DENND4C		inserm.fr	GRCh37	9	19300207	19300207	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1065T									Valid												ENST00000602925.1:c.1189C>G	p.Leu397Val	p.L397V	ENST00000602925	NM_017925.5	397	Cta/Gta	0	validated		probablydamaging	
B3GALT2		inserm.fr	GRCh37	1	193150049	193150049	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1207T																					ENST00000367434.4:c.644T>C	p.Ile215Thr	p.I215T	ENST00000367434	NM_003783.3	215	aTa/aCa	0	not done		probablydamaging	
OPA1		inserm.fr	GRCh37	3	193332575	193332575	+	synonymous_variant	Silent	SNP	A	G	G			CHC302T																					ENST00000361908.3:c.96A>G	p.Lys32=	p.K32=	ENST00000361908	NM_130836.2	32	aaA/aaG	0	validated		synonymous	
OPA1		inserm.fr	GRCh37	3	193353263	193353263	+	synonymous_variant	Silent	SNP	A	G	G			CHC1749T																					ENST00000361908.3:c.846A>G	p.Lys282=	p.K282=	ENST00000361908	NM_130836.2	282	aaA/aaG	0	not done		synonymous	
OPA1		inserm.fr	GRCh37	3	193361323	193361323	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC896T																					ENST00000361908.3:c.1330A>G	p.Thr444Ala	p.T444A	ENST00000361908	NM_130836.2	444	Aca/Gca	0	not done		probablydamaging	
OPA1		inserm.fr	GRCh37	3	193361787	193361787	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2208T																					ENST00000361908.3:c.1447A>G	p.Ser483Gly	p.S483G	ENST00000361908	NM_130836.2	483	Agt/Ggt	0	not done		probablydamaging	
OPA1		inserm.fr	GRCh37	3	193363543	193363543	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2216T																					ENST00000361908.3:c.1654A>G	p.Ile552Val	p.I552V	ENST00000361908	NM_130836.2	552	Ata/Gta	0	not done		probablydamaging	
HAPLN4		inserm.fr	GRCh37	19	19371775	19371775	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC304T																					ENST00000291481.7:c.331A>C	p.Ser111Arg	p.S111R	ENST00000291481	NM_023002.2	111	Agc/Cgc	0	validated		benign	
RPS6		inserm.fr	GRCh37	9	19378868	19378868	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1534T																					ENST00000380394.4:c.187A>C	p.Met63Leu	p.M63L	ENST00000380394	NM_001010.2	63	Atg/Ctg	0	validated		probablydamaging	
HES1		inserm.fr	GRCh37	3	193854411	193854411	+	synonymous_variant	Silent	SNP	A	G	G			CHC1717T																					ENST00000232424.3:c.114A>G	p.Ser38=	p.S38=	ENST00000232424	NM_005524.3	38	tcA/tcG	0	not done		synonymous	
UBR4		inserm.fr	GRCh37	1	19426127	19426127	+	synonymous_variant	Silent	SNP	A	G	G			CHC1097T																					ENST00000375254.3:c.13266T>C	p.Ala4422=	p.A4422=	ENST00000375254	NM_020765.2	4422	gcT/gcC	0	validated		synonymous	
MIB1		inserm.fr	GRCh37	18	19444546	19444546	+	synonymous_variant	Silent	SNP	A	G	G			CHC1148T																					ENST00000261537.6:c.2940A>G	p.Gly980=	p.G980=	ENST00000261537	NM_020774.3	980	ggA/ggG	0	not done		synonymous	
TMC5		inserm.fr	GRCh37	16	19451554	19451554	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2141T																					ENST00000396229.2:c.194A>G	p.Tyr65Cys	p.Y65C	ENST00000396229	NM_001105248.1	65	tAt/tGt	0	not done		probablydamaging	
UBR4		inserm.fr	GRCh37	1	19468160	19468160	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC433T									Valid												ENST00000375254.3:c.8291A>C	p.His2764Pro	p.H2764P	ENST00000375254	NM_020765.2	2764	cAt/cCt	0	validated		probablydamaging	
CDC45		inserm.fr	GRCh37	22	19468519	19468519	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC898T																					ENST00000437685.2:c.155T>G	p.Val52Gly	p.V52G	ENST00000437685	NM_001178010.2	52	gTt/gGt	0	not done		probablydamaging	
SLC47A1		inserm.fr	GRCh37	17	19476144	19476144	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1044T																					ENST00000270570.4:c.1456T>G	p.Ser486Ala	p.S486A	ENST00000270570	NM_018242.2	486	Tct/Gct	0	not done		benign	
CDH18		inserm.fr	GRCh37	5	19483614	19483614	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1763T																					ENST00000507958.1:c.1678G>C	p.Val560Leu	p.V560L	ENST00000507958		560	Gtt/Ctt	0	not done		benign	
MUC20		inserm.fr	GRCh37	3	195452759	195452759	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1704T																					ENST00000447234.2:c.1285A>G	p.Ile429Val	p.I429V	ENST00000447234	NM_001282506.1	429	Ata/Gta	0	not done		benign	
CCP110		inserm.fr	GRCh37	16	19547913	19547913	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2034T																					ENST00000381396.5:c.922C>G	p.Gln308Glu	p.Q308E	ENST00000381396	NM_001199022.1	308	Caa/Gaa	0	not done		probablydamaging	
MUC4		inserm.fr	GRCh37	3	195512713	195512713	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC917T																					ENST00000463781.3:c.5738T>C	p.Val1913Ala	p.V1913A	ENST00000463781	NM_018406.6	1913	gTa/gCa	0	validated		benign	
MUC4		inserm.fr	GRCh37	3	195515676	195515676	+	synonymous_variant	Silent	SNP	C	G	G			CHC303T																					ENST00000463781.3:c.2775G>C	p.Ala925=	p.A925=	ENST00000463781	NM_018406.6	925	gcG/gcC	0	validated		synonymous	
KCNH8		inserm.fr	GRCh37	3	19575279	19575279	+	synonymous_variant	Silent	SNP	T	G	G			CHC437T																					ENST00000328405.2:c.3012T>G	p.Gly1004=	p.G1004=	ENST00000328405	NM_144633.2	1004	ggT/ggG	0	not done		synonymous	
GATAD2A		inserm.fr	GRCh37	19	19605164	19605164	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB231T																					ENST00000360315.3:c.596A>G	p.Asn199Ser	p.N199S	ENST00000360315	NM_017660.3	199	aAc/aGc	0	validated		probablydamaging	
HIC1		inserm.fr	GRCh37	17	1961661	1961661	+	synonymous_variant	Silent	SNP	C	G	G			CHC1148T																					ENST00000322941.3:c.1734C>G	p.Leu578=	p.L578=	ENST00000322941	NM_001098202.1	578	ctC/ctG	0	not done		synonymous	
RNF168		inserm.fr	GRCh37	3	196199486	196199486	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T																					ENST00000318037.3:c.920A>C	p.Glu307Ala	p.E307A	ENST00000318037	NM_152617.3	307	gAa/gCa	0	validated		possiblydamaging	
ALDH3A1		inserm.fr	GRCh37	17	19641664	19641664	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1712T																					ENST00000457500.2:c.1319A>C	p.Lys440Thr	p.K440T	ENST00000457500	NM_001135168.1	440	aAg/aCg	0	not done		benign	
PAK2		inserm.fr	GRCh37	3	196529930	196529930	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC205T									Valid												ENST00000327134.3:c.331A>G	p.Ile111Val	p.I111V	ENST00000327134	NM_002577.4	111	Atc/Gtc	0	validated		possiblydamaging	
DNAH7		inserm.fr	GRCh37	2	196737163	196737163	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM337T																					ENST00000312428.6:c.6444G>C	p.Leu2148Phe	p.L2148F	ENST00000312428	NM_018897.2	2148	ttG/ttC	0	validated		benign	
MFI2		inserm.fr	GRCh37	3	196744099	196744099	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1209T																					ENST00000296350.5:c.775G>C	p.Asp259His	p.D259H	ENST00000296350	NM_005929.5	259	Gat/Cat	0	not done		probablydamaging	
DNAH7		inserm.fr	GRCh37	2	196756380	196756380	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			BCM337T																					ENST00000312428.6:c.5045T>C	p.Val1682Ala	p.V1682A	ENST00000312428	NM_018897.2	1682	gTg/gCg	0	validated		damaging	
CFHR4		inserm.fr	GRCh37	1	196871596	196871596	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1148T																					ENST00000367416.2:c.104A>G	p.Tyr35Cys	p.Y35C	ENST00000367416	NM_001201551.1	35	tAt/tGt	0	not done		probablydamaging	
CFHR4		inserm.fr	GRCh37	1	196871615	196871615	+	synonymous_variant	Silent	SNP	A	G	G			CHC884T																					ENST00000367416.2:c.123A>G	p.Leu41=	p.L41=	ENST00000367416	NM_001201551.1	41	ctA/ctG	0	validated		synonymous	
CFHR5		inserm.fr	GRCh37	1	196963214	196963214	+	synonymous_variant	Silent	SNP	A	G	G			CHC1035T																					ENST00000256785.4:c.435A>G	p.Gly145=	p.G145=	ENST00000256785		145	ggA/ggG	0	validated		synonymous	
SH3KBP1		inserm.fr	GRCh37	X	19702113	19702113	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1594T																					ENST00000397821.3:c.554G>C	p.Gly185Ala	p.G185A	ENST00000397821	NM_031892.2	185	gGg/gCg	0	not done		probablydamaging	
ASPM		inserm.fr	GRCh37	1	197071452	197071452	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2112T																					ENST00000367409.4:c.6929A>C	p.Gln2310Pro	p.Q2310P	ENST00000367409	NM_018136.4	2310	cAg/cCg	0	not done		benign	
TMPRSS15		inserm.fr	GRCh37	21	19726038	19726038	+	splice_donor_variant	Splice_Site	SNP	A	G	G			CHC432T																					ENST00000284885.3:c.1021+2T>C		p.X341_splice	ENST00000284885	NM_002772.2			0	not done		damaging	
IQCK		inserm.fr	GRCh37	16	19729702	19729702	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1534T																					ENST00000320394.6:c.74C>G	p.Thr25Ser	p.T25S	ENST00000320394	NM_153208.1	25	aCc/aGc	0	validated		probablydamaging	
CRB1		inserm.fr	GRCh37	1	197407733	197407733	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1081T																					ENST00000367400.3:c.3806A>G	p.Tyr1269Cys	p.Y1269C	ENST00000367400	NM_201253.2	1269	tAc/tGc	0	validated		possiblydamaging	
ATP13A1		inserm.fr	GRCh37	19	19758027	19758027	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC614T									Valid												ENST00000357324.6:c.3016T>C	p.Tyr1006His	p.Y1006H	ENST00000357324	NM_020410.2	1006	Tac/Cac	0	validated		possiblydamaging	
CCDC150		inserm.fr	GRCh37	2	197594520	197594520	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1704T																					ENST00000389175.4:c.2755A>G	p.Ile919Val	p.I919V	ENST00000389175	NM_001080539.1	919	Ata/Gta	0	not done		benign	
MARS2		inserm.fr	GRCh37	2	198571289	198571289	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2141T																					ENST00000282276.6:c.1160A>G	p.Tyr387Cys	p.Y387C	ENST00000282276	NM_138395.3	387	tAt/tGt	0	not done		possiblydamaging	
PTPRC		inserm.fr	GRCh37	1	198711374	198711374	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC307T																					ENST00000442510.2:c.2575C>G	p.Arg859Gly	p.R859G	ENST00000442510		859	Cgc/Ggc	0	validated		probablydamaging	
ZNF506		inserm.fr	GRCh37	19	19906303	19906303	+	synonymous_variant	Silent	SNP	A	G	G			CHC1091T																					ENST00000443905.2:c.393T>C	p.Asn131=	p.N131=	ENST00000443905		131	aaT/aaC	0	validated		synonymous	
ZNF506		inserm.fr	GRCh37	19	19906400	19906400	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T																					ENST00000443905.2:c.296T>C	p.Ile99Thr	p.I99T	ENST00000443905		99	aTa/aCa	0	validated		benign	
MINOS1		inserm.fr	GRCh37	1	19952079	19952079	+	intron_variant	Intron	SNP	A	G	G			CHC1738T																					ENST00000322753.6:c.223-802A>G		*75*	ENST00000322753	NM_001032363.3			0	not done			
NAV2		inserm.fr	GRCh37	11	19955124	19955124	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1715T																					ENST00000396087.3:c.1403C>G	p.Ala468Gly	p.A468G	ENST00000396087	NM_001244963.1	468	gCc/gGc	0	not done		benign	
SLC18A1		inserm.fr	GRCh37	8	20022380	20022380	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			BCM423T																					ENST00000440926.1:c.1015G>C	p.Gly339Arg	p.G339R	ENST00000440926	NM_001135691.2	339	Ggt/Cgt	0	validated		probablydamaging	
KIF14		inserm.fr	GRCh37	1	200587536	200587536	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1629T																					ENST00000367350.4:c.316G>C	p.Glu106Gln	p.E106Q	ENST00000367350	NM_014875.2	106	Gag/Cag	0	not done		benign	
C2orf69		inserm.fr	GRCh37	2	200790224	200790224	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2099T																					ENST00000319974.5:c.773T>G	p.Phe258Cys	p.F258C	ENST00000319974	NM_153689.5	258	tTt/tGt	0	not done		probablydamaging	
KIF21B		inserm.fr	GRCh37	1	200974450	200974450	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1725T																					ENST00000422435.2:c.718A>C	p.Thr240Pro	p.T240P	ENST00000422435	NM_001252100.1	240	Acc/Ccc	0	not done		benign	
LZTS1		inserm.fr	GRCh37	8	20112691	20112691	+	start_lost	Translation_Start_Site	SNP	A	G	G			CHC2127T																					ENST00000381569.1:c.2T>C	p.Met1?	p.M1?	ENST00000381569		1	aTg/aCg	0	not done		probablydamaging	
IGFN1		inserm.fr	GRCh37	1	201165054	201165054	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM229T																					ENST00000335211.4:c.215C>G	p.Ser72Cys	p.S72C	ENST00000335211	NM_001164586.1	72	tCc/tGc	0	validated			
TNNT2		inserm.fr	GRCh37	1	201328756	201328756	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC121T									Valid												ENST00000509001.1:c.816G>C	p.Gln272His	p.Q272H	ENST00000509001	NM_001276347.1	272	caG/caC	0	validated		probablydamaging	
LOC388849		inserm.fr	GRCh37	22	20136299	20136299	+	synonymous_variant	Silent	SNP	C	G	G			BCM543T																					ENST00000439765.2:c.937G>C	p.Leu313=	p.L313=	ENST00000439765		313	ctG/ctC	0	validated		synonymous	
AOX1		inserm.fr	GRCh37	2	201492074	201492074	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC912T									Valid												ENST00000374700.2:c.2125-2A>G		p.X709_splice	ENST00000374700	NM_001159.3			0	validated		damaging	
BZW1		inserm.fr	GRCh37	2	201680457	201680457	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1531T																					ENST00000452790.2:c.405T>G	p.Asp135Glu	p.D135E	ENST00000452790	NM_001207068.1	135	gaT/gaG	0	not done		possiblydamaging	
MACC1		inserm.fr	GRCh37	7	20180572	20180572	+	synonymous_variant	Silent	SNP	T	G	G			CHC923T																					ENST00000400331.5:c.2556A>C	p.Val852=	p.V852=	ENST00000400331	NM_182762.3	852	gtA/gtC	0	not done		synonymous	
IPO9		inserm.fr	GRCh37	1	201825033	201825033	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC432T																					ENST00000361565.4:c.1093A>G	p.Ile365Val	p.I365V	ENST00000361565	NM_018085.4	365	Atc/Gtc	0	not done		benign	
LMOD1		inserm.fr	GRCh37	1	201868607	201868607	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC197T									Valid												ENST00000367288.4:c.1534T>C	p.Ser512Pro	p.S512P	ENST00000367288	NM_012134.2	512	Tca/Cca	0	validated		probablydamaging	
MACC1		inserm.fr	GRCh37	7	20198387	20198387	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC306T																					ENST00000400331.5:c.1597T>C	p.Ser533Pro	p.S533P	ENST00000400331	NM_182762.3	533	Tca/Cca	0	validated		benign	
CASP10		inserm.fr	GRCh37	2	202082426	202082426	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC912T									Valid												ENST00000286186.6:c.1531C>G	p.Leu511Val	p.L511V	ENST00000286186	NM_032977.3	511	Cta/Gta	0	validated		possiblydamaging	
ZNF90		inserm.fr	GRCh37	19	20228787	20228787	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM339T																					ENST00000418063.2:c.424A>G	p.Ser142Gly	p.S142G	ENST00000418063	NM_007138.1	142	Agc/Ggc	0	validated		possiblydamaging	
ZNF90		inserm.fr	GRCh37	19	20229889	20229889	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2351T																					ENST00000418063.2:c.1526A>G	p.Tyr509Cys	p.Y509C	ENST00000418063	NM_007138.1	509	tAc/tGc	0	not done		probablydamaging	
STRADB		inserm.fr	GRCh37	2	202337686	202337686	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM321T									Valid												ENST00000194530.3:c.202T>G	p.Phe68Val	p.F68V	ENST00000194530	NM_001206864.1	68	Ttt/Gtt	0	validated		probablydamaging	
ALS2CR11		inserm.fr	GRCh37	2	202357079	202357079	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2127T																					ENST00000439140.1:c.3985T>C	p.Phe1329Leu	p.F1329L	ENST00000439140	NM_001168221.1	1329	Ttt/Ctt	0	not done		possiblydamaging	
MPP4		inserm.fr	GRCh37	2	202539972	202539972	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC917T																					ENST00000409474.3:c.952T>C	p.Ser318Pro	p.S318P	ENST00000409474	NM_033066.2	318	Tct/Cct	0	validated		possiblydamaging	
MPP4		inserm.fr	GRCh37	2	202539981	202539981	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB301T																					ENST00000409474.3:c.943T>C	p.Phe315Leu	p.F315L	ENST00000409474	NM_033066.2	315	Ttc/Ctc	0	validated		benign	
KDM5B		inserm.fr	GRCh37	1	202731913	202731913	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1594T																					ENST00000367265.3:c.832A>C	p.Lys278Gln	p.K278Q	ENST00000367265	NM_006618.3	278	Aag/Cag	0	not done		possiblydamaging	
PLA2G2A		inserm.fr	GRCh37	1	20304511	20304511	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC909T																					ENST00000375111.3:c.289T>C	p.Cys97Arg	p.C97R	ENST00000375111	NM_001161727.1	97	Tgt/Cgt	0	not done		probablydamaging	
ZNF486		inserm.fr	GRCh37	19	20308282	20308282	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1154T																					ENST00000335117.8:c.763A>G	p.Thr255Ala	p.T255A	ENST00000335117	NM_052852.3	255	Aca/Gca	0	not done		benign	
FAM117B		inserm.fr	GRCh37	2	203630425	203630425	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC313T									Valid												ENST00000392238.2:c.1708A>G	p.Thr570Ala	p.T570A	ENST00000392238		570	Aca/Gca	0	validated		possiblydamaging	
ICA1L		inserm.fr	GRCh37	2	203693629	203693629	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1183T																					ENST00000392237.2:c.104G>C	p.Gly35Ala	p.G35A	ENST00000392237	NM_138468.4	35	gGa/gCa	0	not done		probablydamaging	
WDR12		inserm.fr	GRCh37	2	203757417	203757417	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1052T									Valid												ENST00000261015.4:c.664G>C	p.Asp222His	p.D222H	ENST00000261015	NM_018256.3	222	Gat/Cat	0	validated		possiblydamaging	
ZMYM5		inserm.fr	GRCh37	13	20399005	20399005	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1041T																					ENST00000337963.4:c.1622T>C	p.Val541Ala	p.V541A	ENST00000337963	NM_001142684.1	541	gTt/gCt	0	validated		benign	
MLLT3		inserm.fr	GRCh37	9	20414298	20414298	+	synonymous_variant	Silent	SNP	A	G	G			CHC2141T																					ENST00000380338.4:c.546T>C	p.Ser182=	p.S182=	ENST00000380338	NM_004529.2	182	agT/agC	0	validated		synonymous	
ABI2		inserm.fr	GRCh37	2	204193299	204193299	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1148T																					ENST00000261017.5:c.62A>G	p.Asp21Gly	p.D21G	ENST00000261017	NM_005759.4	21	gAc/gGc	0	not done		benign	
ABI2		inserm.fr	GRCh37	2	204231700	204231700	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC205T									Valid												ENST00000261017.5:c.218T>G	p.Leu73Arg	p.L73R	ENST00000261017	NM_005759.4	73	cTg/cGg	0	validated		probablydamaging	
ITGB8		inserm.fr	GRCh37	7	20431062	20431062	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC451T																					ENST00000222573.4:c.997A>G	p.Ile333Val	p.I333V	ENST00000222573	NM_002214.2	333	Ata/Gta	0	validated		probablydamaging	
PIK3C2B		inserm.fr	GRCh37	1	204438863	204438863	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM375T									Valid												ENST00000367187.3:c.68A>C	p.Glu23Ala	p.E23A	ENST00000367187	NM_002646.3	23	gAg/gCg	0	validated		probablydamaging	
LRRN2		inserm.fr	GRCh37	1	204588258	204588258	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1065T									Valid												ENST00000367175.1:c.863A>C	p.Lys288Thr	p.K288T	ENST00000367175		288	aAg/aCg	0	validated		probablydamaging	
MYOM2		inserm.fr	GRCh37	8	2054175	2054175	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1205T																					ENST00000262113.4:c.2878A>G	p.Thr960Ala	p.T960A	ENST00000262113	NM_003970.2	960	Acc/Gcc	0	not done		benign	
RBBP8		inserm.fr	GRCh37	18	20562192	20562192	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1738T																					ENST00000399722.2:c.440A>G	p.Gln147Arg	p.Q147R	ENST00000399722	NM_203291.1	147	cAg/cGg	0	not done		benign	
SLIT2		inserm.fr	GRCh37	4	20570547	20570547	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC898T																					ENST00000504154.1:c.3008A>G	p.Glu1003Gly	p.E1003G	ENST00000504154	NM_004787.1	1003	gAa/gGa	0	not done		probablydamaging	
ACSM1		inserm.fr	GRCh37	16	20648161	20648161	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			BCB325T									Valid												ENST00000307493.4:c.1199T>C	p.Val400Ala	p.V400A	ENST00000307493	NM_052956.2	400	gTc/gCc	0	validated		damaging	
NRP2		inserm.fr	GRCh37	2	206641036	206641036	+	intron_variant	Intron	SNP	A	G	G			CHC798T																					ENST00000360409.3:c.2440+9494A>G		*814*	ENST00000360409	NM_003872.2			0	validated			
EIF2D		inserm.fr	GRCh37	1	206776548	206776548	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC197T																					ENST00000271764.2:c.541A>C	p.Asn181His	p.N181H	ENST00000271764	NM_006893.2	181	Aac/Cac	0	validated		benign	
C1orf116		inserm.fr	GRCh37	1	207195389	207195389	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2141T																					ENST00000359470.5:c.1720T>C	p.Cys574Arg	p.C574R	ENST00000359470	NM_023938.5	574	Tgt/Cgt	0	not done		probablydamaging	
C4BPA		inserm.fr	GRCh37	1	207297631	207297631	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC306T																					ENST00000367070.3:c.626T>G	p.Leu209Arg	p.L209R	ENST00000367070	NM_000715.3	209	cTc/cGc	0	validated		probablydamaging	
SP8		inserm.fr	GRCh37	7	20824956	20824956	+	synonymous_variant	Silent	SNP	C	G	G			CHC197T																					ENST00000418710.2:c.480G>C	p.Gly160=	p.G160=	ENST00000418710	NM_182700.4	160	ggG/ggC	0	validated		synonymous	
CDKAL1		inserm.fr	GRCh37	6	20846337	20846337	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1600T																					ENST00000274695.4:c.670A>G	p.Lys224Glu	p.K224E	ENST00000274695	NM_017774.3	224	Aaa/Gaa	0	not done		probablydamaging	
SLCO1C1		inserm.fr	GRCh37	12	20852604	20852604	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1600T																					ENST00000381552.1:c.94T>G	p.Ser32Ala	p.S32A	ENST00000381552		32	Tca/Gca	0	not done		benign	
LOC81691		inserm.fr	GRCh37	16	20856035	20856035	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM275T																					ENST00000261377.6:c.1804A>G	p.Ile602Val	p.I602V	ENST00000261377	NM_030941.2	602	Ata/Gta	0	validated		probablydamaging	
CRYGA		inserm.fr	GRCh37	2	209025673	209025673	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM269T									Valid												ENST00000304502.4:c.380T>C	p.Leu127Pro	p.L127P	ENST00000304502	NM_014617.3	127	cTg/cCg	0	validated		possiblydamaging	
CDA		inserm.fr	GRCh37	1	20915726	20915726	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1616T																					ENST00000375071.3:c.104A>G	p.His35Arg	p.H35R	ENST00000375071	NM_001785.2	35	cAc/cGc	0	not done		benign	
PIKFYVE		inserm.fr	GRCh37	2	209190908	209190908	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC429T																					ENST00000264380.4:c.3373A>G	p.Ile1125Val	p.I1125V	ENST00000264380	NM_015040.3	1125	Att/Gtt	0	validated		benign	
PIKFYVE		inserm.fr	GRCh37	2	209198112	209198112	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC451T																					ENST00000264380.4:c.4037A>G	p.Tyr1346Cys	p.Y1346C	ENST00000264380	NM_015040.3	1346	tAt/tGt	0	validated		probablydamaging	
C2orf43		inserm.fr	GRCh37	2	20974651	20974651	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000237822.3:c.387G>C	p.Lys129Asn	p.K129N	ENST00000237822	NM_021925.2	129	aaG/aaC	0	not done		benign	
DNAH3		inserm.fr	GRCh37	16	20975310	20975310	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM325T																					ENST00000261383.3:c.9896T>C	p.Val3299Ala	p.V3299A	ENST00000261383	NM_017539.1	3299	gTg/gCg	0	validated		benign	
STK35		inserm.fr	GRCh37	20	2097579	2097579	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC433T									Valid												ENST00000381482.3:c.1160T>G	p.Val387Gly	p.V387G	ENST00000381482		387	gTc/gGc	0	validated		probablydamaging	
DIEXF		inserm.fr	GRCh37	1	210008464	210008464	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM695T																					ENST00000491415.2:c.607A>G	p.Ile203Val	p.I203V	ENST00000491415	NM_014388.6	203	Att/Gtt	0	validated		benign	
PRKCZ		inserm.fr	GRCh37	1	2103782	2103782	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC898T																					ENST00000378567.3:c.1240A>G	p.Thr414Ala	p.T414A	ENST00000378567	NM_002744.4	414	Acc/Gcc	0	not done		possiblydamaging	
MAP2		inserm.fr	GRCh37	2	210558229	210558229	+	synonymous_variant	Silent	SNP	A	G	G			CHC121T																					ENST00000360351.4:c.1335A>G	p.Glu445=	p.E445=	ENST00000360351	NM_002374.3	445	gaA/gaG	0	validated		synonymous	
MAP2		inserm.fr	GRCh37	2	210559491	210559491	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1741T																					ENST00000360351.4:c.2597A>G	p.Asp866Gly	p.D866G	ENST00000360351	NM_002374.3	866	gAc/gGc	0	not done		probablydamaging	
MAP2		inserm.fr	GRCh37	2	210561301	210561301	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC736T									Valid												ENST00000360351.4:c.4216A>G	p.Thr1406Ala	p.T1406A	ENST00000360351	NM_002374.3	1406	Act/Gct	0	validated		possiblydamaging	
MAP2		inserm.fr	GRCh37	2	210561772	210561772	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1602T																					ENST00000360351.4:c.4519A>G	p.Thr1507Ala	p.T1507A	ENST00000360351	NM_002374.3	1507	Aca/Gca	0	not done		probablydamaging	
MAP2		inserm.fr	GRCh37	2	210569233	210569233	+	intron_variant	Intron	SNP	C	G	G			CHC1742T																					ENST00000360351.4:c.4585-1071C>G		*1529*	ENST00000360351	NM_002374.3			0	not done			
DNAH3		inserm.fr	GRCh37	16	21060959	21060959	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1192T																					ENST00000261383.3:c.4392G>C	p.Met1464Ile	p.M1464I	ENST00000261383	NM_017539.1	1464	atG/atC	0	not done		probablydamaging	
UNC80		inserm.fr	GRCh37	2	210683737	210683737	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1154T																					ENST00000439458.1:c.1714A>G	p.Ile572Val	p.I572V	ENST00000439458	NM_032504.1	572	Atc/Gtc	0	not done		possiblydamaging	
NEBL		inserm.fr	GRCh37	10	21076239	21076239	+	splice_acceptor_variant	Splice_Site	SNP	T	G	G			CHC2200T																					ENST00000377122.4:c.2762-2A>C		p.X921_splice	ENST00000377122	NM_006393.2			0	not done		damaging	
TSC2		inserm.fr	GRCh37	16	2108855	2108855	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1597T																					ENST00000219476.3:c.956T>G	p.Val319Gly	p.V319G	ENST00000219476	NM_000548.3	319	gTg/gGg	0	not done		probablydamaging	
SMARCA2		inserm.fr	GRCh37	9	2110413	2110413	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1601T																					ENST00000382203.1:c.3452A>G	p.His1151Arg	p.H1151R	ENST00000382203		1151	cAt/cGt	0	not done		probablydamaging	
SERPIND1		inserm.fr	GRCh37	22	21141223	21141223	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM791T																					ENST00000215727.5:c.1369A>G	p.Thr457Ala	p.T457A	ENST00000215727	NM_000185.3	457	Acg/Gcg	0	validated		benign	
CPS1		inserm.fr	GRCh37	2	211523394	211523394	+	synonymous_variant	Silent	SNP	C	G	G			CHC2200T																					ENST00000430249.2:c.3756C>G	p.Val1252=	p.V1252=	ENST00000430249	NM_001122633.2	1252	gtC/gtG	0	not done		synonymous	
PI4KA		inserm.fr	GRCh37	22	21153437	21153437	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2128T																					ENST00000255882.6:c.1948T>C	p.Ser650Pro	p.S650P	ENST00000255882	NM_058004.3	650	Tcc/Ccc	0	not done		probablydamaging	
CPS1		inserm.fr	GRCh37	2	211541852	211541852	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1624T																					ENST00000430249.2:c.4414A>G	p.Asn1472Asp	p.N1472D	ENST00000430249	NM_001122633.2	1472	Aat/Gat	0	validated		probablydamaging	
SLCO1B7		inserm.fr	GRCh37	12	21175888	21175888	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2103T																					ENST00000421593.2:c.445A>G	p.Ile149Val	p.I149V	ENST00000421593	NM_001009562.4	149	Att/Gtt	0	not done			
IFT88		inserm.fr	GRCh37	13	21212574	21212574	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2103T																					ENST00000319980.6:c.1517A>G	p.Asn506Ser	p.N506S	ENST00000319980	NM_175605.3	506	aAt/aGt	0	not done		benign	
INTS7		inserm.fr	GRCh37	1	212148672	212148672	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2052T																					ENST00000366994.3:c.1651A>C	p.Thr551Pro	p.T551P	ENST00000366994	NM_001199811.1	551	Act/Cct	0	not done		probablydamaging	
ZP2		inserm.fr	GRCh37	16	21215656	21215656	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB167T																					ENST00000574002.1:c.763T>C	p.Phe255Leu	p.F255L	ENST00000574002		255	Ttc/Ctc	0	validated		benign	
ERBB4		inserm.fr	GRCh37	2	212288952	212288952	+	synonymous_variant	Silent	SNP	A	G	G			CHC303T																					ENST00000342788.4:c.2794T>C	p.Leu932=	p.L932=	ENST00000342788	NM_005235.2	932	Tta/Cta	0	validated		synonymous	
APOB		inserm.fr	GRCh37	2	21251397	21251397	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC302T									Valid												ENST00000233242.1:c.1631T>C	p.Leu544Pro	p.L544P	ENST00000233242	NM_000384.2	544	cTt/cCt	0	validated		probablydamaging	
ZNF714		inserm.fr	GRCh37	19	21300226	21300226	+	synonymous_variant	Silent	SNP	A	G	G			CHC155T																					ENST00000596143.1:c.756A>G	p.Gly252=	p.G252=	ENST00000596143	NM_182515.3	252	ggA/ggG	0	validated		synonymous	
FLVCR1		inserm.fr	GRCh37	1	213031892	213031892	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000366971.4:c.98A>G	p.Lys33Arg	p.K33R	ENST00000366971	NM_014053.3	33	aAg/aGg	0	validated		benign	
IFNA6		inserm.fr	GRCh37	9	21350499	21350499	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC923T																					ENST00000380210.1:c.388G>C	p.Gly130Arg	p.G130R	ENST00000380210	NM_021002.2	130	Gga/Cga	0	not done		benign	
TDRD15		inserm.fr	GRCh37	2	21360449	21360449	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2115T																					ENST00000405799.1:c.110A>G	p.Asn37Ser	p.N37S	ENST00000405799		37	aAt/aGt	0	not done			
IKZF2		inserm.fr	GRCh37	2	213872579	213872579	+	synonymous_variant	Silent	SNP	A	G	G			CHC1035T																					ENST00000457361.1:c.1086T>C	p.Asn362=	p.N362=	ENST00000457361	NM_016260.2	362	aaT/aaC	0	validated		synonymous	
PROX1		inserm.fr	GRCh37	1	214170622	214170622	+	synonymous_variant	Silent	SNP	A	G	G			CHC799T																					ENST00000366958.4:c.744A>G	p.Lys248=	p.K248=	ENST00000366958	NM_001270616.1	248	aaA/aaG	0	not done		synonymous	
PROX1		inserm.fr	GRCh37	1	214184916	214184916	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1091T																					ENST00000366958.4:c.1886A>G	p.Glu629Gly	p.E629G	ENST00000366958	NM_001270616.1	629	gAg/gGg	0	validated		probablydamaging	
PROX1		inserm.fr	GRCh37	1	214184916	214184916	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC805T																					ENST00000366958.4:c.1886A>G	p.Glu629Gly	p.E629G	ENST00000366958	NM_001270616.1	629	gAg/gGg	0	not done		probablydamaging	
PROX1		inserm.fr	GRCh37	1	214184916	214184916	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC465T									Valid												ENST00000366958.4:c.1886A>G	p.Glu629Gly	p.E629G	ENST00000366958	NM_001270616.1	629	gAg/gGg	0	validated		probablydamaging	
SP4		inserm.fr	GRCh37	7	21469898	21469898	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2112T																					ENST00000222584.3:c.1115C>G	p.Ala372Gly	p.A372G	ENST00000222584	NM_003112.3	372	gCc/gGc	0	not done		possiblydamaging	
CENPF		inserm.fr	GRCh37	1	214813706	214813706	+	synonymous_variant	Silent	SNP	A	G	G			CHC1186T																					ENST00000366955.3:c.2025A>G	p.Leu675=	p.L675=	ENST00000366955	NM_016343.3	675	ctA/ctG	0	not done		synonymous	
CENPF		inserm.fr	GRCh37	1	214814912	214814912	+	synonymous_variant	Silent	SNP	A	G	G			CHC1595T																					ENST00000366955.3:c.3231A>G	p.Ala1077=	p.A1077=	ENST00000366955	NM_016343.3	1077	gcA/gcG	0	validated		synonymous	
CENPF		inserm.fr	GRCh37	1	214815574	214815574	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC898T																					ENST00000366955.3:c.3893A>G	p.Asn1298Ser	p.N1298S	ENST00000366955	NM_016343.3	1298	aAc/aGc	0	not done		benign	
KCTD3		inserm.fr	GRCh37	1	215793427	215793427	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1596T																					ENST00000259154.4:c.1915C>G	p.His639Asp	p.H639D	ENST00000259154	NM_016121.3	639	Cat/Gat	0	validated		probablydamaging	
USH2A		inserm.fr	GRCh37	1	215799174	215799174	+	synonymous_variant	Silent	SNP	A	G	G			BCM723T																					ENST00000307340.3:c.15558T>C	p.Asp5186=	p.D5186=	ENST00000307340	NM_206933.2	5186	gaT/gaC	0	validated		synonymous	
PKD1		inserm.fr	GRCh37	16	2159060	2159060	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1736T																					ENST00000262304.4:c.6108G>C	p.Leu2036Phe	p.L2036F	ENST00000262304	NM_001009944.2	2036	ttG/ttC	0	not done		probablydamaging	
SOX4		inserm.fr	GRCh37	6	21595777	21595777	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC736T																					ENST00000244745.1:c.1012A>G	p.Ser338Gly	p.S338G	ENST00000244745	NM_003107.2	338	Agc/Ggc	0	validated		benign	
DNAH11		inserm.fr	GRCh37	7	21600747	21600747	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1081T																					ENST00000328843.6:c.941A>G	p.Tyr314Cys	p.Y314C	ENST00000328843		314	tAt/tGt	0	validated		probablydamaging	
SKI		inserm.fr	GRCh37	1	2160942	2160942	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB307T									Valid												ENST00000378536.4:c.737A>G	p.Gln246Arg	p.Q246R	ENST00000378536	NM_003036.3	246	cAg/cGg	0	validated		possiblydamaging	
USH2A		inserm.fr	GRCh37	1	216144106	216144106	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2103T																					ENST00000307340.3:c.6818G>C	p.Ser2273Thr	p.S2273T	ENST00000307340	NM_206933.2	2273	aGt/aCt	0	not done		benign	
FN1		inserm.fr	GRCh37	2	216236679	216236679	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC801T																					ENST00000354785.4:c.6667T>C	p.Tyr2223His	p.Y2223H	ENST00000354785		2223	Tac/Cac	0	not done		probablydamaging	
METTL9		inserm.fr	GRCh37	16	21624099	21624099	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM265T									Valid												ENST00000358154.3:c.299A>G	p.Tyr100Cys	p.Y100C	ENST00000358154	NM_016025.3	100	tAt/tGt	0	validated		probablydamaging	
USH2A		inserm.fr	GRCh37	1	216420184	216420184	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC451T																					ENST00000307340.3:c.2552A>C	p.Lys851Thr	p.K851T	ENST00000307340	NM_206933.2	851	aAg/aCg	0	validated		benign	
USH2A		inserm.fr	GRCh37	1	216424301	216424301	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2206T																					ENST00000307340.3:c.2111G>C	p.Gly704Ala	p.G704A	ENST00000307340	NM_206933.2	704	gGa/gCa	0	not done		probablydamaging	
USH2A		inserm.fr	GRCh37	1	216465686	216465686	+	synonymous_variant	Silent	SNP	A	G	G			BCM567T																					ENST00000307340.3:c.1671T>C	p.Asn557=	p.N557=	ENST00000307340	NM_206933.2	557	aaT/aaC	0	validated		synonymous	
SAP18		inserm.fr	GRCh37	13	21714785	21714785	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC303T																					ENST00000382533.4:c.94A>G	p.Lys32Glu	p.K32E	ENST00000382533	NM_005870.4	32	Aag/Gag	0	validated		benign	
ZNF429		inserm.fr	GRCh37	19	21719451	21719451	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM545T																					ENST00000358491.4:c.596A>G	p.Asn199Ser	p.N199S	ENST00000358491	NM_001001415.2	199	aAt/aGt	0	validated		possiblydamaging	
SMARCAL1		inserm.fr	GRCh37	2	217303162	217303162	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000357276.4:c.1664A>G	p.Lys555Arg	p.K555R	ENST00000357276	NM_014140.3	555	aAa/aGa	0	not done		probablydamaging	
NBPF3		inserm.fr	GRCh37	1	21771666	21771666	+	synonymous_variant	Silent	SNP	A	G	G			CHC1624T																					ENST00000318249.5:c.87A>G	p.Ala29=	p.A29=	ENST00000318249	NM_032264.4	29	gcA/gcG	0	validated		synonymous	
GPATCH2		inserm.fr	GRCh37	1	217783696	217783696	+	synonymous_variant	Silent	SNP	A	G	G			CHC2351T																					ENST00000366935.3:c.1065T>C	p.Asn355=	p.N355=	ENST00000366935	NM_018040.2	355	aaT/aaC	0	not done		synonymous	
GPATCH2		inserm.fr	GRCh37	1	217783696	217783696	+	synonymous_variant	Silent	SNP	A	G	G			CHC2351T																					ENST00000366935.3:c.1065T>C	p.Asn355=	p.N355=	ENST00000366935	NM_018040.2	355	aaT/aaC	0	not done		synonymous	
NBPF3		inserm.fr	GRCh37	1	21798156	21798156	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1744T																					ENST00000318249.5:c.541C>G	p.Gln181Glu	p.Q181E	ENST00000318249	NM_032264.4	181	Cag/Gag	0	validated		benign	
HIC2		inserm.fr	GRCh37	22	21799539	21799539	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM735T																					ENST00000443632.2:c.355C>G	p.Leu119Val	p.L119V	ENST00000443632		119	Ctc/Gtc	0	validated		probablydamaging	
TGFB2		inserm.fr	GRCh37	1	218610825	218610825	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1137T																					ENST00000366929.4:c.1157C>G	p.Thr386Ser	p.T386S	ENST00000366929	NM_001135599.2	386	aCt/aGt	0	not done		possiblydamaging	
MBTPS2		inserm.fr	GRCh37	X	21896775	21896775	+	stop_gained	Nonsense_Mutation	SNP	T	G	G			BCM735T																					ENST00000379484.5:c.1226T>G	p.Leu409Ter	p.L409*	ENST00000379484	NM_015884.3	409	tTa/tGa	0	validated		damaging	
OSBPL1A		inserm.fr	GRCh37	18	21912924	21912924	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM371T																					ENST00000319481.3:c.607A>C	p.Asn203His	p.N203H	ENST00000319481	NM_080597.3	203	Aat/Cat	0	validated		possiblydamaging	
C2orf62		inserm.fr	GRCh37	2	219232533	219232533	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1629T																					ENST00000289388.3:c.1010T>G	p.Leu337Arg	p.L337R	ENST00000289388	NM_198559.1	337	cTg/cGg	0	not done		probablydamaging	
SLC11A1		inserm.fr	GRCh37	2	219251883	219251883	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	G	G			CHC1061T									Valid												ENST00000233202.6:c.501A>G	p.Arg167=	p.R167=	ENST00000233202	NM_000578.3	167	cgA/cgG	0	validated		possiblydamaging	
RQCD1		inserm.fr	GRCh37	2	219445327	219445327	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1531T																					ENST00000273064.6:c.68A>G	p.Tyr23Cys	p.Y23C	ENST00000273064	NM_005444.2	23	tAt/tGt	0	not done		probablydamaging	
BCS1L		inserm.fr	GRCh37	2	219528018	219528018	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1629T																					ENST00000431802.1:c.1169A>G	p.Gln390Arg	p.Q390R	ENST00000431802		390	cAg/cGg	0	not done		benign	
TTLL4		inserm.fr	GRCh37	2	219616455	219616455	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM791T																					ENST00000392102.1:c.2902C>G	p.Arg968Gly	p.R968G	ENST00000392102	NM_014640.4	968	Cga/Gga	0	validated		benign	
CYP27A1		inserm.fr	GRCh37	2	219679136	219679136	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1148T																					ENST00000258415.4:c.1218C>G	p.Ile406Met	p.I406M	ENST00000258415	NM_000784.3	406	atC/atG	0	not done		possiblydamaging	
CDKN2A		inserm.fr	GRCh37	9	21974756	21974756	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1205T									Valid												ENST00000304494.5:c.71G>C	p.Arg24Pro	p.R24P	ENST00000304494	NM_000077.4	24	cGg/cCg	0	validated		probablydamaging	
CNPPD1		inserm.fr	GRCh37	2	220038072	220038072	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC1746T																					ENST00000409789.1:c.690G>C	p.Lys230Asn	p.K230N	ENST00000409789		230	aaG/aaC	0	not done		possiblydamaging	
CNPPD1		inserm.fr	GRCh37	2	220039536	220039536	+	synonymous_variant	Silent	SNP	A	G	G			CHC909T																					ENST00000409789.1:c.474T>C	p.Thr158=	p.T158=	ENST00000409789		158	acT/acC	0	not done		synonymous	
ABCB6		inserm.fr	GRCh37	2	220082968	220082968	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC912T																					ENST00000265316.3:c.428A>C	p.Lys143Thr	p.K143T	ENST00000265316	NM_005689.2	143	aAg/aCg	0	validated		benign	
PTPRN		inserm.fr	GRCh37	2	220167543	220167543	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1083T																					ENST00000295718.2:c.394A>C	p.Lys132Gln	p.K132Q	ENST00000295718	NM_002846.3	132	Aag/Cag	0	validated		benign	
IARS2		inserm.fr	GRCh37	1	220275601	220275601	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC432T																					ENST00000302637.5:c.681T>G	p.Phe227Leu	p.F227L	ENST00000302637	NM_018060.3	227	ttT/ttG	0	not done		probablydamaging	
SMG6		inserm.fr	GRCh37	17	2202976	2202976	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM397T																					ENST00000263073.6:c.1071A>C	p.Glu357Asp	p.E357D	ENST00000263073	NM_017575.4	357	gaA/gaC	0	validated		benign	
STK11IP		inserm.fr	GRCh37	2	220480875	220480875	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2098T																					ENST00000295641.10:c.3260T>G	p.Leu1087Arg	p.L1087R	ENST00000295641	NM_052902.2	1087	cTc/cGc	0	not done		probablydamaging	
HRH4		inserm.fr	GRCh37	18	22056871	22056871	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1736T																					ENST00000256906.4:c.518A>G	p.Tyr173Cys	p.Y173C	ENST00000256906	NM_021624.3	173	tAc/tGc	0	not done		probablydamaging	
USP48		inserm.fr	GRCh37	1	22062959	22062959	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1148T																					ENST00000308271.9:c.1151T>C	p.Leu384Pro	p.L384P	ENST00000308271	NM_032236.5	384	cTa/cCa	0	not done		probablydamaging	
POLR3D		inserm.fr	GRCh37	8	22107618	22107618	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1028T																					ENST00000397802.4:c.952C>G	p.Leu318Val	p.L318V	ENST00000397802		318	Ctg/Gtg	0	not done		probablydamaging	
PHEX		inserm.fr	GRCh37	X	22108560	22108560	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM735T																					ENST00000379374.4:c.677C>G	p.Thr226Arg	p.T226R	ENST00000379374	NM_000444.4	226	aCa/aGa	0	validated		benign	
ZNF208		inserm.fr	GRCh37	19	22156621	22156621	+	synonymous_variant	Silent	SNP	A	G	G			CHC912T																					ENST00000397126.4:c.1215T>C	p.Gly405=	p.G405=	ENST00000397126	NM_007153.3	405	ggT/ggC	0	validated		synonymous	
ZNF208		inserm.fr	GRCh37	19	22156815	22156815	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T									Valid												ENST00000397126.4:c.1021T>C	p.Tyr341His	p.Y341H	ENST00000397126	NM_007153.3	341	Tac/Cac	0	validated		benign	
HSPG2		inserm.fr	GRCh37	1	22157717	22157717	+	synonymous_variant	Silent	SNP	C	G	G			CHC1154T																					ENST00000374695.3:c.11553G>C	p.Arg3851=	p.R3851=	ENST00000374695	NM_005529.5	3851	cgG/cgC	0	not done		synonymous	
CMAS		inserm.fr	GRCh37	12	22214295	22214295	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1209T																					ENST00000229329.2:c.869A>G	p.His290Arg	p.H290R	ENST00000229329	NM_018686.4	290	cAc/cGc	0	not done		benign	
CMAS		inserm.fr	GRCh37	12	22215254	22215254	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC434T																					ENST00000229329.2:c.1000C>G	p.Leu334Val	p.L334V	ENST00000229329	NM_018686.4	334	Ctg/Gtg	0	validated		benign	
CMAS		inserm.fr	GRCh37	12	22215322	22215322	+	synonymous_variant	Silent	SNP	A	G	G			CHC205T																					ENST00000229329.2:c.1068A>G	p.Glu356=	p.E356=	ENST00000229329	NM_018686.4	356	gaA/gaG	0	validated		synonymous	
EPHA4		inserm.fr	GRCh37	2	222294773	222294773	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2052T																					ENST00000281821.2:c.2595G>C	p.Arg865Ser	p.R865S	ENST00000281821	NM_004438.3	865	agG/agC	0	not done		probablydamaging	
HHIPL2		inserm.fr	GRCh37	1	222713540	222713540	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB151T																					ENST00000343410.6:c.1262T>C	p.Met421Thr	p.M421T	ENST00000343410	NM_024746.3	421	aTg/aCg	0	validated		probablydamaging	
DISP1		inserm.fr	GRCh37	1	223177144	223177144	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1715T																					ENST00000284476.6:c.2405T>G	p.Leu802Arg	p.L802R	ENST00000284476	NM_032890.3	802	cTa/cGa	0	not done		probablydamaging	
FARSB		inserm.fr	GRCh37	2	223498024	223498024	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	G	G			CHC361TA																					ENST00000281828.6:c.609T>C	p.Thr203=	p.T203=	ENST00000281828	NM_005687.3	203	acT/acC	0	validated		synonymous	
GPR125		inserm.fr	GRCh37	4	22422596	22422596	+	synonymous_variant	Silent	SNP	A	G	G			CHC432T																					ENST00000334304.5:c.1722T>C	p.Tyr574=	p.Y574=	ENST00000334304	NM_145290.3	574	taT/taC	0	not done		synonymous	
ZNF729		inserm.fr	GRCh37	19	22469346	22469346	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000601693.1:c.19A>G	p.Ser7Gly	p.S7G	ENST00000601693		7	Agc/Ggc	0	not done			
ZNF729		inserm.fr	GRCh37	19	22486667	22486667	+	stop_gained	Nonsense_Mutation	SNP	C	G	G			BCM375T									Valid												ENST00000601693.1:c.138C>G	p.Tyr46Ter	p.Y46*	ENST00000601693		46	taC/taG	0	validated		damaging	
DNAH14		inserm.fr	GRCh37	1	225152229	225152229	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1010T																					ENST00000400952.3:c.416A>G	p.Lys139Arg	p.K139R	ENST00000400952	NM_001145154.1	139	aAg/aGg	0	not done		benign	
STEAP1B		inserm.fr	GRCh37	7	22533119	22533119	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC917T																					ENST00000404369.4:c.421G>C	p.Val141Leu	p.V141L	ENST00000404369	NM_001164460.1	141	Gtt/Ctt	0	validated		benign	
LBR		inserm.fr	GRCh37	1	225594536	225594536	+	splice_acceptor_variant	Splice_Site	SNP	T	G	G			CHC303T									Valid												ENST00000338179.2:c.1315-2A>C		p.X439_splice	ENST00000338179	NM_194442.2			0	validated		possiblydamaging	
DOCK10		inserm.fr	GRCh37	2	225698935	225698935	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1747T																					ENST00000258390.7:c.2896G>C	p.Glu966Gln	p.E966Q	ENST00000258390	NM_014689.2	966	Gaa/Caa	0	not done		benign	
LEFTY1		inserm.fr	GRCh37	1	226074509	226074509	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1028T																					ENST00000272134.5:c.1019T>C	p.Val340Ala	p.V340A	ENST00000272134	NM_020997.3	340	gTg/gCg	0	not done		probablydamaging	
NCAM2		inserm.fr	GRCh37	21	22652954	22652954	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC432T																					ENST00000400546.1:c.112A>G	p.Lys38Glu	p.K38E	ENST00000400546	NM_004540.3	38	Aaa/Gaa	0	not done		probablydamaging	
ITPKB		inserm.fr	GRCh37	1	226925119	226925119	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1137T																					ENST00000429204.1:c.41T>C	p.Met14Thr	p.M14T	ENST00000429204	NM_002221.3	14	aTg/aCg	0	not done		probablydamaging	
GAS2		inserm.fr	GRCh37	11	22696477	22696477	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1185T																					ENST00000454584.2:c.62A>G	p.Tyr21Cys	p.Y21C	ENST00000454584	NM_001143830.1	21	tAt/tGt	0	not done		probablydamaging	
NCAM2		inserm.fr	GRCh37	21	22696714	22696714	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM711T																					ENST00000400546.1:c.631A>G	p.Ile211Val	p.I211V	ENST00000400546	NM_004540.3	211	Atc/Gtc	0	validated		benign	
RHBDD1		inserm.fr	GRCh37	2	227729518	227729518	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1602T																					ENST00000392062.2:c.109C>G	p.Leu37Val	p.L37V	ENST00000392062	NM_001167608.1	37	Ctc/Gtc	0	not done		benign	
RHBDD1		inserm.fr	GRCh37	2	227771574	227771574	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC451T																					ENST00000392062.2:c.632A>G	p.Lys211Arg	p.K211R	ENST00000392062	NM_001167608.1	211	aAg/aGg	0	validated		probablydamaging	
JMJD4		inserm.fr	GRCh37	1	227920614	227920614	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1148T																					ENST00000366758.3:c.1075G>C	p.Asp359His	p.D359H	ENST00000366758	NM_023007.2	359	Gac/Cac	0	not done		probablydamaging	
ZNF521		inserm.fr	GRCh37	18	22806023	22806023	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1712T																					ENST00000361524.3:c.1859T>C	p.Met620Thr	p.M620T	ENST00000361524	NM_015461.2	620	aTg/aCg	0	not done		benign	
TM4SF20		inserm.fr	GRCh37	2	228228629	228228629	+	synonymous_variant	Silent	SNP	C	G	G			CHC155T																					ENST00000304568.3:c.501G>C	p.Ala167=	p.A167=	ENST00000304568	NM_024795.3	167	gcG/gcC	0	validated		synonymous	
GAS2		inserm.fr	GRCh37	11	22833405	22833405	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC218T																					ENST00000454584.2:c.785A>G	p.Tyr262Cys	p.Y262C	ENST00000454584	NM_001143830.1	262	tAt/tGt	0	validated		probablydamaging	
OBSCN		inserm.fr	GRCh37	1	228412277	228412277	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000570156.2:c.3047A>G	p.Tyr1016Cys	p.Y1016C	ENST00000570156	NM_001271223.2	1016	tAc/tGc	0	not done		probablydamaging	
NUDT1		inserm.fr	GRCh37	7	2284203	2284203	+	synonymous_variant	Silent	SNP	A	G	G			CHC1531T																					ENST00000397049.1:c.63A>G	p.Pro21=	p.P21=	ENST00000397049	NM_198948.1	21	ccA/ccG	0	not done		synonymous	
ZNF492		inserm.fr	GRCh37	19	22846793	22846793	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1148T																					ENST00000456783.2:c.322A>G	p.Thr108Ala	p.T108A	ENST00000456783	NM_020855.2	108	Acc/Gcc	0	not done		benign	
OBSCN		inserm.fr	GRCh37	1	228475763	228475763	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	G	G			CHC1742T																					ENST00000570156.2:c.11100C>G	p.Ala3700=	p.A3700=	ENST00000570156	NM_001271223.2	3700	gcC/gcG	0	not done		damaging	
NCAM2		inserm.fr	GRCh37	21	22849789	22849789	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB109T																					ENST00000400546.1:c.2074A>G	p.Lys692Glu	p.K692E	ENST00000400546	NM_004540.3	692	Aaa/Gaa	0	validated		benign	
OBSCN		inserm.fr	GRCh37	1	228547980	228547980	+	intron_variant	Intron	SNP	A	G	G			CHC302T																					ENST00000570156.2:c.21533-2297A>G		*7178*	ENST00000570156	NM_001271223.2			0	validated			
TUBGCP5		inserm.fr	GRCh37	15	22855085	22855085	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC799T																					ENST00000283645.4:c.1546A>G	p.Ser516Gly	p.S516G	ENST00000283645	NM_052903.4	516	Agc/Ggc	0	not done		possiblydamaging	
ZNF99		inserm.fr	GRCh37	19	22941968	22941968	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2048T																					ENST00000596209.1:c.743A>C	p.Lys248Thr	p.K248T	ENST00000596209	NM_001080409.2	248	aAg/aCg	0	validated			
FBXO36		inserm.fr	GRCh37	2	230875497	230875497	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1010T																					ENST00000283946.3:c.464A>G	p.Asp155Gly	p.D155G	ENST00000283946	NM_174899.4	155	gAc/gGc	0	not done		probablydamaging	
USP31		inserm.fr	GRCh37	16	23116814	23116814	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000219689.7:c.1037T>C	p.Val346Ala	p.V346A	ENST00000219689	NM_020718.3	346	gTc/gCc	0	not done		probablydamaging	
PSMD1		inserm.fr	GRCh37	2	231931772	231931772	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T																					ENST00000308696.6:c.457A>G	p.Ile153Val	p.I153V	ENST00000308696	NM_002807.3	153	Att/Gtt	0	validated		possiblydamaging	
PSMD1		inserm.fr	GRCh37	2	231934868	231934868	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC097T																					ENST00000308696.6:c.640A>G	p.Ile214Val	p.I214V	ENST00000308696	NM_002807.3	214	Atc/Gtc	0	not done		benign	
UBE2E2		inserm.fr	GRCh37	3	23258751	23258751	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC1915T									Valid												ENST00000396703.1:c.177-2A>G		p.X59_splice	ENST00000396703	NM_152653.3			0	validated		damaging	
COPS7B		inserm.fr	GRCh37	2	232660874	232660874	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB111T									Valid												ENST00000350033.3:c.386A>G	p.Glu129Gly	p.E129G	ENST00000350033	NM_022730.1	129	gAa/gGa	0	validated		probablydamaging	
ALPP		inserm.fr	GRCh37	2	233244937	233244937	+	synonymous_variant	Silent	SNP	A	G	G			CHC2029T																					ENST00000392027.2:c.699A>G	p.Gly233=	p.G233=	ENST00000392027	NM_001632.3	233	ggA/ggG	0	not done		synonymous	
ZNF730		inserm.fr	GRCh37	19	23328324	23328324	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC879T																					ENST00000597761.2:c.478T>G	p.Ser160Ala	p.S160A	ENST00000597761	NM_001277403.1	160	Tca/Gca	0	not done			
ZNF730		inserm.fr	GRCh37	19	23328754	23328754	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2208T																					ENST00000597761.2:c.908A>G	p.Lys303Arg	p.K303R	ENST00000597761	NM_001277403.1	303	aAg/aGg	0	not done			
MALSU1		inserm.fr	GRCh37	7	23339015	23339015	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM683T																					ENST00000466681.1:c.44T>G	p.Met15Arg	p.M15R	ENST00000466681	NM_138446.1	15	aTg/aGg	0	validated		probablydamaging	
LRP10		inserm.fr	GRCh37	14	23344996	23344996	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1566T																					ENST00000359591.4:c.839C>G	p.Ser280Cys	p.S280C	ENST00000359591	NM_014045.3	280	tCt/tGt	0	not done		probablydamaging	
SCNN1B		inserm.fr	GRCh37	16	23391461	23391461	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1736T																					ENST00000343070.2:c.1513C>G	p.Arg505Gly	p.R505G	ENST00000343070	NM_000336.2	505	Cgc/Ggc	0	not done		probablydamaging	
KDM1A		inserm.fr	GRCh37	1	23395045	23395045	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1152T																					ENST00000400181.4:c.1193A>G	p.Lys398Arg	p.K398R	ENST00000400181	NM_001009999.2	398	aAa/aGa	0	not done		possiblydamaging	
CST11		inserm.fr	GRCh37	20	23431190	23431190	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC703T																					ENST00000377009.3:c.370T>C	p.Trp124Arg	p.W124R	ENST00000377009	NM_130794.1	124	Tgg/Cgg	0	validated		probablydamaging	
GNAZ		inserm.fr	GRCh37	22	23438108	23438108	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1568T																					ENST00000248996.4:c.226A>G	p.Asn76Asp	p.N76D	ENST00000248996	NM_002073.2	76	Aat/Gat	0	not done		possiblydamaging	
TARBP1		inserm.fr	GRCh37	1	234565173	234565173	+	synonymous_variant	Silent	SNP	A	G	G			CHC1611T																					ENST00000040877.1:c.2860T>C	p.Leu954=	p.L954=	ENST00000040877	NM_005646.3	954	Ttg/Ctg	0	not done		synonymous	
UGT1A7		inserm.fr	GRCh37	2	234590816	234590816	+	stop_gained	Nonsense_Mutation	SNP	C	G	G			CHC2351T																					ENST00000373426.3:c.233C>G	p.Ser78Ter	p.S78*	ENST00000373426	NM_019077.2	78	tCa/tGa	0	not done		damaging	
UGT1A1		inserm.fr	GRCh37	2	234669289	234669289	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC451T																					ENST00000305208.5:c.356A>G	p.Asp119Gly	p.D119G	ENST00000305208	NM_000463.2	119	gAc/gGc	0	validated		benign	
IRF2BP2		inserm.fr	GRCh37	1	234743450	234743450	+	synonymous_variant	Silent	SNP	A	G	G			CHC303T																					ENST00000366609.3:c.1197T>C	p.Ser399=	p.S399=	ENST00000366609	NM_182972.2	399	tcT/tcC	0	validated		synonymous	
HJURP		inserm.fr	GRCh37	2	234763091	234763091	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2113T																					ENST00000411486.2:c.56T>C	p.Leu19Pro	p.L19P	ENST00000411486	NM_018410.3	19	cTg/cCg	0	not done		probablydamaging	
PSMB5		inserm.fr	GRCh37	14	23502797	23502797	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCB307T																					ENST00000361611.6:c.285G>C	p.Glu95Asp	p.E95D	ENST00000361611	NM_002797.3	95	gaG/gaC	0	validated		probablydamaging	
PRDM9		inserm.fr	GRCh37	5	23527473	23527473	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC307T																					ENST00000296682.3:c.2276A>G	p.Asp759Gly	p.D759G	ENST00000296682	NM_020227.2	759	gAt/gGt	0	validated		benign	
EARS2		inserm.fr	GRCh37	16	23541091	23541091	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC433T																					ENST00000449606.1:c.1195G>C	p.Val399Leu	p.V399L	ENST00000449606	NM_001083614.1	399	Gtg/Ctg	0	validated		benign	
ZNF91		inserm.fr	GRCh37	19	23544135	23544135	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC917T																					ENST00000300619.7:c.1646A>C	p.Lys549Thr	p.K549T	ENST00000300619	NM_003430.2	549	aAa/aCa	0	validated		benign	
SLC7A8		inserm.fr	GRCh37	14	23624444	23624444	+	intron_variant	Intron	SNP	C	G	G			CHC2200T																					ENST00000316902.7:c.508+10050G>C		*170*	ENST00000316902	NM_012244.3			0	not done			
GPR137B		inserm.fr	GRCh37	1	236306067	236306067	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2128T																					ENST00000366592.3:c.145T>G	p.Tyr49Asp	p.Y49D	ENST00000366592	NM_003272.3	49	Tac/Gac	0	not done		probablydamaging	
C10orf67		inserm.fr	GRCh37	10	23633660	23633660	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC314T																					ENST00000323327.4:c.47T>C	p.Ile16Thr	p.I16T	ENST00000323327	NM_153714.2	16	aTa/aCa	0	validated		benign	
PLK1		inserm.fr	GRCh37	16	23691433	23691433	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC218T																					ENST00000300093.4:c.437A>G	p.Lys146Arg	p.K146R	ENST00000300093	NM_005030.3	146	aAa/aGa	0	validated		benign	
ABCA3		inserm.fr	GRCh37	16	2369582	2369582	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC1041T									Valid												ENST00000301732.5:c.873G>C	p.Lys291Asn	p.K291N	ENST00000301732	NM_001089.2	291	aaG/aaC	0	validated		probablydamaging	
PRDX4		inserm.fr	GRCh37	X	23697350	23697350	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1725T																					ENST00000379341.4:c.545A>G	p.His182Arg	p.H182R	ENST00000379341	NM_006406.1	182	cAt/cGt	0	not done		probablydamaging	
ERN2		inserm.fr	GRCh37	16	23702288	23702288	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM543T																					ENST00000256797.4:c.2789T>C	p.Phe930Ser	p.F930S	ENST00000256797	NM_033266.3	930	tTc/tCc	0	validated		probablydamaging	
MTR		inserm.fr	GRCh37	1	237044074	237044074	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1751T																					ENST00000366577.5:c.2614A>G	p.Ile872Val	p.I872V	ENST00000366577	NM_000254.2	872	Ata/Gta	0	not done		possiblydamaging	
RYR2		inserm.fr	GRCh37	1	237753112	237753112	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1211T																					ENST00000366574.2:c.3618C>G	p.Ser1206Arg	p.S1206R	ENST00000366574	NM_001035.2	1206	agC/agG	0	not done		benign	
RYR2		inserm.fr	GRCh37	1	237798222	237798222	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM489T																					ENST00000366574.2:c.6722A>G	p.Asp2241Gly	p.D2241G	ENST00000366574	NM_001035.2	2241	gAt/gGt	0	validated		probablydamaging	
RYR2		inserm.fr	GRCh37	1	237863655	237863655	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM397T																					ENST00000366574.2:c.9255C>G	p.Asn3085Lys	p.N3085K	ENST00000366574	NM_001035.2	3085	aaC/aaG	0	validated		benign	
RYR2		inserm.fr	GRCh37	1	237972301	237972301	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1629T																					ENST00000366574.2:c.14399A>G	p.Asp4800Gly	p.D4800G	ENST00000366574	NM_001035.2	4800	gAt/gGt	0	not done		possiblydamaging	
PPARGC1A		inserm.fr	GRCh37	4	23803412	23803412	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1731T																					ENST00000264867.2:c.2234A>C	p.Asp745Ala	p.D745A	ENST00000264867	NM_013261.3	745	gAc/gCc	0	not done		possiblydamaging	
MKRN3		inserm.fr	GRCh37	15	23812087	23812087	+	synonymous_variant	Silent	SNP	A	G	G			BCM275T																					ENST00000314520.3:c.1158A>G	p.Lys386=	p.K386=	ENST00000314520	NM_005664.3	386	aaA/aaG	0	validated		synonymous	
EFS		inserm.fr	GRCh37	14	23826508	23826508	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1598T																					ENST00000216733.3:c.1613T>C	p.Met538Thr	p.M538T	ENST00000216733	NM_005864.3	538	aTg/aCg	0	not done		possiblydamaging	
COL6A3		inserm.fr	GRCh37	2	238277326	238277326	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM567T																					ENST00000295550.4:c.4780T>C	p.Phe1594Leu	p.F1594L	ENST00000295550	NM_004369.3	1594	Ttc/Ctc	0	validated		benign	
COL6A3		inserm.fr	GRCh37	2	238303239	238303239	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1629T																					ENST00000295550.4:c.700G>C	p.Asp234His	p.D234H	ENST00000295550	NM_004369.3	234	Gac/Cac	0	not done		probablydamaging	
LRRFIP1		inserm.fr	GRCh37	2	238672487	238672487	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC703T																					ENST00000392000.4:c.2131A>G	p.Thr711Ala	p.T711A	ENST00000392000	NM_001137552.1	711	Act/Gct	0	validated		benign	
MYH7		inserm.fr	GRCh37	14	23894510	23894510	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1600T																					ENST00000355349.3:c.2404A>C	p.Lys802Gln	p.K802Q	ENST00000355349	NM_000257.2	802	Aaa/Caa	0	not done		benign	
NDN		inserm.fr	GRCh37	15	23931514	23931514	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC451T																					ENST00000331837.4:c.851A>C	p.Lys284Thr	p.K284T	ENST00000331837	NM_002487.2	284	aAg/aCg	0	validated		probablydamaging	
NDN		inserm.fr	GRCh37	15	23932015	23932015	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1531T																					ENST00000331837.4:c.350T>C	p.Met117Thr	p.M117T	ENST00000331837	NM_002487.2	117	aTg/aCg	0	not done		possiblydamaging	
SACS		inserm.fr	GRCh37	13	23945251	23945251	+	synonymous_variant	Silent	SNP	A	G	G			CHC2208T																					ENST00000382298.3:c.225T>C	p.Phe75=	p.F75=	ENST00000382298	NM_014363.5	75	ttT/ttC	0	not done		synonymous	
CHRM3		inserm.fr	GRCh37	1	240072066	240072066	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1028T																					ENST00000255380.4:c.1315A>G	p.Lys439Glu	p.K439E	ENST00000255380	NM_000740.2	439	Aag/Gag	0	not done		benign	
THTPA		inserm.fr	GRCh37	14	24026085	24026085	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC303T									Valid												ENST00000288014.6:c.119A>G	p.Tyr40Cys	p.Y40C	ENST00000288014		40	tAt/tGt	0	validated		probablydamaging	
FMN2		inserm.fr	GRCh37	1	240601453	240601453	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1183T																					ENST00000319653.9:c.5003T>G	p.Phe1668Cys	p.F1668C	ENST00000319653	NM_020066.4	1668	tTc/tGc	0	not done		probablydamaging	
NDUFA10		inserm.fr	GRCh37	2	240958042	240958042	+	synonymous_variant	Silent	SNP	A	G	G			CHC097T																					ENST00000252711.2:c.475T>C	p.Leu159=	p.L159=	ENST00000252711	NM_004544.3	159	Ttg/Ctg	0	not done		synonymous	
PRR21		inserm.fr	GRCh37	2	240982019	240982019	+	synonymous_variant	Silent	SNP	A	G	G			CHC794T																					ENST00000408934.1:c.381T>C	p.His127=	p.H127=	ENST00000408934	NM_001080835.1	127	caT/caC	0	validated		synonymous	
AQP12B		inserm.fr	GRCh37	2	241622009	241622009	+	synonymous_variant	Silent	SNP	C	G	G			BCM269T																					ENST00000407834.3:c.246G>C	p.Ala82=	p.A82=	ENST00000407834	NM_001102467.1	82	gcG/gcC	0	validated		synonymous	
KIF1A		inserm.fr	GRCh37	2	241664820	241664820	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC1747T																					ENST00000498729.2:c.4124T>C	p.Met1375Thr	p.M1375T	ENST00000498729	NM_001244008.1	1375	aTg/aCg	0	not done		possiblydamaging	
KIF1A		inserm.fr	GRCh37	2	241683472	241683472	+	synonymous_variant	Silent	SNP	T	G	G			CHC433T																					ENST00000498729.2:c.3471A>C	p.Ala1157=	p.A1157=	ENST00000498729	NM_001244008.1	1157	gcA/gcC	0	validated		synonymous	
ADAM28		inserm.fr	GRCh37	8	24190228	24190228	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1775T																					ENST00000265769.4:c.1337A>G	p.Gln446Arg	p.Q446R	ENST00000265769	NM_014265.4	446	cAa/cGa	0	validated		possiblydamaging	
WDR64		inserm.fr	GRCh37	1	241904958	241904958	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1052T																					ENST00000366552.2:c.1432A>G	p.Ile478Val	p.I478V	ENST00000366552	NM_144625.4	478	Ata/Gta	0	validated		benign	
PRKCB		inserm.fr	GRCh37	16	24192248	24192248	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC097T																					ENST00000303531.7:c.1532A>G	p.Glu511Gly	p.E511G	ENST00000303531	NM_002738.6	511	gAg/gGg	0	not done		possiblydamaging	
UBXN2A		inserm.fr	GRCh37	2	24199849	24199849	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1207T																					ENST00000309033.4:c.191A>G	p.Asn64Ser	p.N64S	ENST00000309033	NM_181713.3	64	aAt/aGt	0	not done		benign	
SNED1		inserm.fr	GRCh37	2	242002301	242002301	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2098T																					ENST00000310397.8:c.2351A>G	p.Glu784Gly	p.E784G	ENST00000310397	NM_001080437.1	784	gAg/gGg	0	not done		benign	
PLCH2		inserm.fr	GRCh37	1	2420652	2420652	+	synonymous_variant	Silent	SNP	A	G	G			CHC2141T																					ENST00000449969.1:c.1161A>G	p.Pro387=	p.P387=	ENST00000449969		387	ccA/ccG	0	not done		synonymous	
ANO7		inserm.fr	GRCh37	2	242163165	242163165	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC796T									Valid												ENST00000274979.8:c.2663A>G	p.Tyr888Cys	p.Y888C	ENST00000274979	NM_001001891.3	888	tAc/tGc	0	validated		probablydamaging	
ATG4B		inserm.fr	GRCh37	2	242590677	242590677	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC304T									Valid												ENST00000404914.3:c.113-2A>G		p.X38_splice	ENST00000404914	NM_013325.4			0	validated		damaging	
DTYMK		inserm.fr	GRCh37	2	242615552	242615552	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC218T																					ENST00000305784.2:c.629T>C	p.Leu210Pro	p.L210P	ENST00000305784	NM_001165031.1	210	cTa/cCa	0	validated		probablydamaging	
D2HGDH		inserm.fr	GRCh37	2	242680453	242680453	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1591T																					ENST00000321264.4:c.298A>G	p.Ser100Gly	p.S100G	ENST00000321264	NM_152783.3	100	Agc/Ggc	0	not done		benign	
ZNF254		inserm.fr	GRCh37	19	24310029	24310029	+	synonymous_variant	Silent	SNP	A	G	G			CHC1185T																					ENST00000357002.4:c.1227A>G	p.Glu409=	p.E409=	ENST00000357002	NM_203282.3	409	gaA/gaG	0	not done		synonymous	
FAM48B1		inserm.fr	GRCh37	X	24382429	24382429	+	non_coding_transcript_exon_variant	RNA	SNP	C	G	G			CHC1719T																					ENST00000436466.1:n.1552C>G		*518*	ENST00000436466				0	not done			
FAM228A		inserm.fr	GRCh37	2	24406448	24406448	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB109T									Valid												ENST00000295150.3:c.335A>G	p.His112Arg	p.H112R	ENST00000295150	NM_001040710.1	112	cAc/cGc	0	validated		probablydamaging	
CDH10		inserm.fr	GRCh37	5	24498625	24498625	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1191T																					ENST00000264463.4:c.1397A>C	p.Asn466Thr	p.N466T	ENST00000264463	NM_006727.3	466	aAt/aCt	0	not done		probablydamaging	
DHRS4L1		inserm.fr	GRCh37	14	24517997	24517997	+	non_coding_transcript_exon_variant	RNA	SNP	A	G	G			CHC433T									Valid												ENST00000606840.1:n.652A>G		*218*	ENST00000606840				0	validated		possiblydamaging	
CDH10		inserm.fr	GRCh37	5	24537701	24537701	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC703T																					ENST00000264463.4:c.314A>C	p.Asp105Ala	p.D105A	ENST00000264463	NM_006727.3	105	gAt/gCt	0	validated		probablydamaging	
KIF26B		inserm.fr	GRCh37	1	245582928	245582928	+	synonymous_variant	Silent	SNP	A	G	G			CHC1712T																					ENST00000407071.2:c.1047A>G	p.Ala349=	p.A349=	ENST00000407071	NM_018012.3	349	gcA/gcG	0	not done		synonymous	
RBBP6		inserm.fr	GRCh37	16	24582634	24582634	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM703T																					ENST00000319715.4:c.4247C>G	p.Pro1416Arg	p.P1416R	ENST00000319715	NM_006910.4	1416	cCt/cGt	0	validated		probablydamaging	
MPP6		inserm.fr	GRCh37	7	24703282	24703282	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1201T																					ENST00000222644.5:c.725A>G	p.Lys242Arg	p.K242R	ENST00000222644		242	aAg/aGg	0	not done		benign	
ZNF669		inserm.fr	GRCh37	1	247264025	247264025	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1763T																					ENST00000343381.6:c.1046T>C	p.Leu349Pro	p.L349P	ENST00000343381	NM_024804.2	349	cTt/cCt	0	not done		probablydamaging	
POLA1		inserm.fr	GRCh37	X	24750496	24750496	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC909T																					ENST00000379059.3:c.1678A>G	p.Met560Val	p.M560V	ENST00000379059	NM_016937.3	560	Atg/Gtg	0	not done		benign	
NOP9		inserm.fr	GRCh37	14	24771238	24771238	+	synonymous_variant	Silent	SNP	T	G	G			CHC1744T																					ENST00000267425.3:c.876T>G	p.Leu292=	p.L292=	ENST00000267425	NM_174913.1	292	ctT/ctG	0	not done		synonymous	
OR13G1		inserm.fr	GRCh37	1	247835538	247835538	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC884T									Valid												ENST00000359688.2:c.806A>C	p.Lys269Thr	p.K269T	ENST00000359688	NM_001005487.1	269	aAg/aCg	0	validated		probablydamaging	
RIPK3		inserm.fr	GRCh37	14	24807461	24807461	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM483T																					ENST00000216274.5:c.658G>C	p.Val220Leu	p.V220L	ENST00000216274	NM_006871.3	220	Gtt/Ctt	0	validated		benign	
RIPK3		inserm.fr	GRCh37	14	24808371	24808371	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM567T																					ENST00000216274.5:c.321G>C	p.Gln107His	p.Q107H	ENST00000216274	NM_006871.3	107	caG/caC	0	validated		probablydamaging	
OR2L13		inserm.fr	GRCh37	1	248263168	248263168	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1568T																					ENST00000366478.2:c.491A>G	p.His164Arg	p.H164R	ENST00000366478	NM_175911.2	164	cAt/cGt	0	not done		probablydamaging	
OR2L13		inserm.fr	GRCh37	1	248263224	248263224	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1742T																					ENST00000366478.2:c.547A>G	p.Met183Val	p.M183V	ENST00000366478	NM_175911.2	183	Atg/Gtg	0	not done		probablydamaging	
OR2M3		inserm.fr	GRCh37	1	248367160	248367160	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1598T																					ENST00000456743.1:c.791C>G	p.Ser264Cys	p.S264C	ENST00000456743	NM_001004689.1	264	tCt/tGt	0	not done		probablydamaging	
OR14C36		inserm.fr	GRCh37	1	248512663	248512663	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC469T																					ENST00000317861.1:c.587T>G	p.Met196Arg	p.M196R	ENST00000317861	NM_001001918.1	196	aTg/aGg	0	validated		benign	
OR14C36		inserm.fr	GRCh37	1	248512710	248512710	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1052T									Valid												ENST00000317861.1:c.634A>G	p.Ile212Val	p.I212V	ENST00000317861	NM_001001918.1	212	Atc/Gtc	0	validated		probablydamaging	
OR2T4		inserm.fr	GRCh37	1	248525849	248525849	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1915T									Valid												ENST00000366475.1:c.967A>G	p.Ser323Gly	p.S323G	ENST00000366475	NM_001004696.1	323	Agt/Ggt	0	validated		probablydamaging	
SLC5A11		inserm.fr	GRCh37	16	24887025	24887025	+	synonymous_variant	Silent	SNP	A	G	G			CHC1738T																					ENST00000347898.3:c.450A>G	p.Leu150=	p.L150=	ENST00000347898	NM_052944.3	150	ctA/ctG	0	not done		synonymous	
NPAP1		inserm.fr	GRCh37	15	24921026	24921026	+	synonymous_variant	Silent	SNP	A	G	G			CHC923T																					ENST00000329468.2:c.12A>G	p.Leu4=	p.L4=	ENST00000329468	NM_018958.2	4	ttA/ttG	0	not done		synonymous	
NPAP1		inserm.fr	GRCh37	15	24922875	24922875	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC097T																					ENST00000329468.2:c.1861A>G	p.Thr621Ala	p.T621A	ENST00000329468	NM_018958.2	621	Aca/Gca	0	not done		benign	
NPAP1		inserm.fr	GRCh37	15	24924244	24924244	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM375T									Valid												ENST00000329468.2:c.3230C>G	p.Pro1077Arg	p.P1077R	ENST00000329468	NM_018958.2	1077	cCt/cGt	0	validated		probablydamaging	
APMAP		inserm.fr	GRCh37	20	24964617	24964617	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1010T																					ENST00000217456.2:c.134T>C	p.Met45Thr	p.M45T	ENST00000217456	NM_020531.2	45	aTg/aCg	0	not done		benign	
BCAT1		inserm.fr	GRCh37	12	25047325	25047325	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1211T																					ENST00000539282.1:c.199G>C	p.Asp67His	p.D67H	ENST00000539282	NM_001178093.1	67	Gat/Cat	0	not done		probablydamaging	
RUNX3		inserm.fr	GRCh37	1	25229008	25229008	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1738T																					ENST00000399916.1:c.895T>C	p.Ser299Pro	p.S299P	ENST00000399916	NM_001031680.2	299	Tcg/Ccg	0	not done		probablydamaging	
PI4K2B		inserm.fr	GRCh37	4	25254089	25254089	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC432T																					ENST00000264864.6:c.415C>G	p.Pro139Ala	p.P139A	ENST00000264864	NM_018323.3	139	Cct/Gct	0	not done		benign	
CASC1		inserm.fr	GRCh37	12	25261636	25261636	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2113T																					ENST00000395987.3:c.2015T>C	p.Leu672Pro	p.L672P	ENST00000395987	NM_018272.3	672	cTt/cCt	0	not done		probablydamaging	
PYGB		inserm.fr	GRCh37	20	25262719	25262719	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM265T									Valid												ENST00000216962.4:c.1454A>G	p.Asn485Ser	p.N485S	ENST00000216962	NM_002862.3	485	aAt/aGt	0	validated		probablydamaging	
SGSM1		inserm.fr	GRCh37	22	25263122	25263122	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC805T																					ENST00000400359.4:c.989A>G	p.Gln330Arg	p.Q330R	ENST00000400359	NM_133454.2	330	cAg/cGg	0	not done		probablydamaging	
ZKSCAN2		inserm.fr	GRCh37	16	25264302	25264302	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2127T																					ENST00000328086.7:c.643G>C	p.Glu215Gln	p.E215Q	ENST00000328086	NM_001012981.4	215	Gaa/Caa	0	not done		probablydamaging	
CASC1		inserm.fr	GRCh37	12	25264860	25264860	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1041T									Valid												ENST00000395987.3:c.1625T>C	p.Met542Thr	p.M542T	ENST00000395987	NM_018272.3	542	aTg/aCg	0	validated		probablydamaging	
ATP12A		inserm.fr	GRCh37	13	25281419	25281419	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC1746T																					ENST00000218548.6:c.2359C>G	p.Arg787Gly	p.R787G	ENST00000218548	NM_001185085.1	787	Cgc/Ggc	0	not done		probablydamaging	
ABHD12		inserm.fr	GRCh37	20	25304040	25304040	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC205T									Valid												ENST00000376542.3:c.343A>C	p.Lys115Gln	p.K115Q	ENST00000376542	NM_015600.4	115	Aaa/Caa	0	validated		probablydamaging	
CDCA2		inserm.fr	GRCh37	8	25364820	25364820	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000330560.3:c.2638A>G	p.Thr880Ala	p.T880A	ENST00000330560	NM_152562.2	880	Acc/Gcc	0	validated		benign	
GPR158		inserm.fr	GRCh37	10	25510025	25510025	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC909T																					ENST00000376351.3:c.947A>G	p.Asp316Gly	p.D316G	ENST00000376351	NM_020752.2	316	gAc/gGc	0	not done		probablydamaging	
WSB1		inserm.fr	GRCh37	17	25638580	25638580	+	synonymous_variant	Silent	SNP	T	G	G			CHC1545T																					ENST00000262394.2:c.1044T>G	p.Val348=	p.V348=	ENST00000262394	NM_015626.8	348	gtT/gtG	0	not done		synonymous	
ZNF337		inserm.fr	GRCh37	20	25656257	25656257	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1741T																					ENST00000376436.1:c.1667A>C	p.Lys556Thr	p.K556T	ENST00000376436		556	aAg/aCg	0	not done		possiblydamaging	
GPR158		inserm.fr	GRCh37	10	25701207	25701207	+	synonymous_variant	Silent	SNP	A	G	G			BCB109T																					ENST00000376351.3:c.1140A>G	p.Gly380=	p.G380=	ENST00000376351	NM_020752.2	380	ggA/ggG	0	validated		synonymous	
AMER2		inserm.fr	GRCh37	13	25745382	25745382	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1603T																					ENST00000515384.1:c.376G>C	p.Gly126Arg	p.G126R	ENST00000515384		126	Ggg/Cgg	0	not done		possiblydamaging	
PAFAH1B1		inserm.fr	GRCh37	17	2579797	2579797	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC2113T									Valid												ENST00000397195.5:c.901-2A>G		p.X301_splice	ENST00000397195	NM_000430.3			0	validated		damaging	
TMEM57		inserm.fr	GRCh37	1	25818070	25818070	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1081T																					ENST00000374343.4:c.1787C>G	p.Ala596Gly	p.A596G	ENST00000374343	NM_018202.4	596	gCc/gGc	0	validated		possiblydamaging	
MTMR6		inserm.fr	GRCh37	13	25828023	25828023	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1192T																					ENST00000381801.5:c.1225G>C	p.Glu409Gln	p.E409Q	ENST00000381801	NM_004685.3	409	Gaa/Caa	0	not done		benign	
NUPL1		inserm.fr	GRCh37	13	25882023	25882023	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1600T																					ENST00000381736.3:c.187T>G	p.Phe63Val	p.F63V	ENST00000381736	NM_014089.3	63	Ttt/Gtt	0	not done		probablydamaging	
NDC80		inserm.fr	GRCh37	18	2589249	2589249	+	synonymous_variant	Silent	SNP	A	G	G			BCM723T																					ENST00000261597.4:c.810A>G	p.Ala270=	p.A270=	ENST00000261597	NM_006101.2	270	gcA/gcG	0	validated		synonymous	
TMC2		inserm.fr	GRCh37	20	2591216	2591216	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2200T																					ENST00000358864.1:c.1565T>G	p.Leu522Trp	p.L522W	ENST00000358864	NM_080751.2	522	tTg/tGg	0	not done		probablydamaging	
ATP10A		inserm.fr	GRCh37	15	25940017	25940017	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1010T																					ENST00000356865.6:c.3037A>C	p.Met1013Leu	p.M1013L	ENST00000356865	NM_024490.3	1013	Atg/Ctg	0	not done		benign	
KCNQ1		inserm.fr	GRCh37	11	2594171	2594171	+	synonymous_variant	Silent	SNP	C	G	G			CHC1717T																					ENST00000155840.5:c.876C>G	p.Gly292=	p.G292=	ENST00000155840	NM_000218.2	292	ggC/ggG	0	not done		synonymous	
ATP10A		inserm.fr	GRCh37	15	25959134	25959134	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2358T																					ENST00000356865.6:c.2031G>C	p.Trp677Cys	p.W677C	ENST00000356865	NM_024490.3	677	tgG/tgC	0	validated		probablydamaging	
ATP10A		inserm.fr	GRCh37	15	25972366	25972366	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1044T																					ENST00000356865.6:c.788T>C	p.Leu263Pro	p.L263P	ENST00000356865	NM_024490.3	263	cTg/cCg	0	not done		probablydamaging	
MAN1C1		inserm.fr	GRCh37	1	26012935	26012935	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM269T									Valid												ENST00000374332.4:c.545T>G	p.Met182Arg	p.M182R	ENST00000374332	NM_020379.2	182	aTg/aGg	0	validated		probablydamaging	
ATP10A		inserm.fr	GRCh37	15	26108079	26108079	+	synonymous_variant	Silent	SNP	A	G	G			BCM783T																					ENST00000356865.6:c.165T>C	p.Cys55=	p.C55=	ENST00000356865	NM_024490.3	55	tgT/tgC	0	validated		synonymous	
HIST1H2AC		inserm.fr	GRCh37	6	26124682	26124682	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM783T																					ENST00000602637.1:c.222C>G	p.Asn74Lys	p.N74K	ENST00000602637		74	aaC/aaG	0	validated		probablydamaging	
ATP8A2		inserm.fr	GRCh37	13	26148977	26148977	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC889T																					ENST00000381655.2:c.1694A>G	p.Asn565Ser	p.N565S	ENST00000381655	NM_016529.4	565	aAt/aGt	0	not done		probablydamaging	
MYO18B		inserm.fr	GRCh37	22	26168334	26168334	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC301T									Valid												ENST00000335473.7:c.1726C>G	p.Leu576Val	p.L576V	ENST00000335473	NM_032608.5	576	Ctg/Gtg	0	validated		probablydamaging	
HIST1H2BF		inserm.fr	GRCh37	6	26199992	26199992	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC614T									Valid												ENST00000359985.1:c.206A>G	p.Asp69Gly	p.D69G	ENST00000359985	NM_003522.3	69	gAt/gGt	0	validated		possiblydamaging	
MAGEB6		inserm.fr	GRCh37	X	26213009	26213009	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1712T																					ENST00000379034.1:c.1046A>G	p.Asn349Ser	p.N349S	ENST00000379034	NM_173523.2	349	aAc/aGc	0	not done		benign	
VLDLR		inserm.fr	GRCh37	9	2644838	2644838	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1053T																					ENST00000382100.3:c.1171A>G	p.Arg391Gly	p.R391G	ENST00000382100	NM_003383.3	391	Agg/Ggg	0	validated		probablydamaging	
DPYSL2		inserm.fr	GRCh37	8	26505174	26505174	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC736T									Valid												ENST00000311151.5:c.1139T>G	p.Phe380Cys	p.F380C	ENST00000311151	NM_001386.5	380	tTt/tGt	0	validated		probablydamaging	
DPYSL2		inserm.fr	GRCh37	8	26513149	26513149	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1591T																					ENST00000311151.5:c.1646A>G	p.Asn549Ser	p.N549S	ENST00000311151	NM_001386.5	549	aAc/aGc	0	not done		possiblydamaging	
KIAA0087		inserm.fr	GRCh37	7	26576510	26576510	+	synonymous_variant	Silent	SNP	A	G	G			CHC451T																					ENST00000242109.3:c.279T>C	p.His93=	p.H93=	ENST00000242109		93	caT/caC	0	not done		synonymous	
CEP85		inserm.fr	GRCh37	1	26584654	26584654	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1602T																					ENST00000252992.4:c.1058A>G	p.Gln353Arg	p.Q353R	ENST00000252992	NM_022778.3	353	cAg/cGg	0	not done		possiblydamaging	
AIM1L		inserm.fr	GRCh37	1	26671625	26671625	+	upstream_gene_variant	5'Flank	SNP	A	G	G			BCB167T																								ENST00000527815	NM_001039775.3			0	validated		synonymous	
AIM1L		inserm.fr	GRCh37	1	26671625	26671625	+	upstream_gene_variant	5'Flank	SNP	A	G	G			CHC1060T																								ENST00000527815	NM_001039775.3			0	not done		synonymous	
AIM1L		inserm.fr	GRCh37	1	26671625	26671625	+	upstream_gene_variant	5'Flank	SNP	A	G	G			CHC465T																								ENST00000527815	NM_001039775.3			0	validated		synonymous	
POLDIP2		inserm.fr	GRCh37	17	26684314	26684314	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC1736T																					ENST00000540200.1:c.158G>C	p.Arg53Pro	p.R53P	ENST00000540200	NM_015584.3	53	cGa/cCa	0	not done		probablydamaging	
SMCHD1		inserm.fr	GRCh37	18	2673354	2673354	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM689T									Valid												ENST00000320876.6:c.499A>G	p.Ile167Val	p.I167V	ENST00000320876	NM_015295.2	167	Atc/Gtc	0	validated		possiblydamaging	
SKAP2		inserm.fr	GRCh37	7	26765540	26765540	+	splice_donor_variant	Splice_Site	SNP	A	G	G			BCB307T									Valid												ENST00000345317.2:c.658+2T>C		p.X220_splice	ENST00000345317	NM_003930.3			0	validated		damaging	
MYLK4		inserm.fr	GRCh37	6	2679519	2679519	+	synonymous_variant	Silent	SNP	A	G	G			CHC805T																					ENST00000274643.7:c.882T>C	p.Tyr294=	p.Y294=	ENST00000274643	NM_001012418.3	294	taT/taC	0	not done		synonymous	
DHDDS		inserm.fr	GRCh37	1	26795506	26795506	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1600T																					ENST00000360009.2:c.889A>G	p.Arg297Gly	p.R297G	ENST00000360009	NM_024887.3	297	Agg/Ggg	0	not done		benign	
RPS6KA1		inserm.fr	GRCh37	1	26873373	26873373	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC121T																					ENST00000531382.1:c.151A>G	p.Lys51Glu	p.K51E	ENST00000531382	NM_001006665.1	51	Aag/Gag	0	validated		benign	
TFIP11		inserm.fr	GRCh37	22	26890136	26890136	+	synonymous_variant	Silent	SNP	A	G	G			CHC2215T																					ENST00000407690.1:c.2127T>C	p.Asp709=	p.D709=	ENST00000407690	NM_012143.2	709	gaT/gaC	0	not done		synonymous	
PIGS		inserm.fr	GRCh37	17	26897875	26897875	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1743T																					ENST00000308360.7:c.281T>C	p.Leu94Pro	p.L94P	ENST00000308360	NM_033198.3	94	cTg/cCg	0	not done		probablydamaging	
CDH9		inserm.fr	GRCh37	5	26988300	26988300	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2113T																					ENST00000231021.4:c.141G>C	p.Met47Ile	p.M47I	ENST00000231021	NM_016279.3	47	atG/atC	0	not done		benign	
SUPT6H		inserm.fr	GRCh37	17	27024992	27024992	+	synonymous_variant	Silent	SNP	C	G	G			CHC429T																					ENST00000314616.6:c.4392C>G	p.Ala1464=	p.A1464=	ENST00000314616	NM_003170.3	1464	gcC/gcG	0	validated		synonymous	
ARID1A		inserm.fr	GRCh37	1	27057945	27057945	+	stop_gained	Nonsense_Mutation	SNP	C	G	G			BCM265T									Valid												ENST00000324856.7:c.1653C>G	p.Tyr551Ter	p.Y551*	ENST00000324856	NM_006015.4	551	taC/taG	0	validated		damaging	
ARID1A		inserm.fr	GRCh37	1	27059281	27059281	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC1534T									Valid												ENST00000324856.7:c.1918C>G	p.Pro640Ala	p.P640A	ENST00000324856	NM_006015.4	640	Cct/Gct	0	validated		probablydamaging	
ASUN		inserm.fr	GRCh37	12	27075574	27075574	+	synonymous_variant	Silent	SNP	A	G	G			CHC2029T																					ENST00000261191.7:c.864T>C	p.Asp288=	p.D288=	ENST00000261191	NM_018164.2	288	gaT/gaC	0	not done		synonymous	
ARID1A		inserm.fr	GRCh37	1	27097665	27097665	+	stop_gained	Nonsense_Mutation	SNP	C	G	G			BCM703T									Valid												ENST00000324856.7:c.3254C>G	p.Ser1085Ter	p.S1085*	ENST00000324856	NM_006015.4	1085	tCa/tGa	0	validated		damaging	
ARID1A		inserm.fr	GRCh37	1	27099964	27099964	+	stop_gained	Nonsense_Mutation	SNP	T	G	G			CHC205T									Valid												ENST00000324856.7:c.3843T>G	p.Tyr1281Ter	p.Y1281*	ENST00000324856	NM_006015.4	1281	taT/taG	0	validated		damaging	
ARID1A		inserm.fr	GRCh37	1	27105893	27105893	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1629T									Valid												ENST00000324856.7:c.5504A>G	p.Gln1835Arg	p.Q1835R	ENST00000324856	NM_006015.4	1835	cAg/cGg	0	not done		probablydamaging	
DIRAS1		inserm.fr	GRCh37	19	2717675	2717675	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM275T									Valid												ENST00000323469.4:c.130T>C	p.Tyr44His	p.Y44H	ENST00000323469	NM_145173.3	44	Tac/Cac	0	validated		probablydamaging	
NEK10		inserm.fr	GRCh37	3	27183048	27183048	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1600T																					ENST00000295720.6:c.1002G>C	p.Gln334His	p.Q334H	ENST00000295720		334	caG/caC	0	not done		probablydamaging	
HOXA10		inserm.fr	GRCh37	7	27211688	27211688	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1704T																					ENST00000283921.4:c.1063T>C	p.Phe355Leu	p.F355L	ENST00000283921	NM_018951.3	355	Ttt/Ctt	0	not done		probablydamaging	
SEZ6		inserm.fr	GRCh37	17	27286100	27286100	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC798T																					ENST00000317338.12:c.2050T>C	p.Ser684Pro	p.S684P	ENST00000317338		684	Tcg/Ccg	0	validated		probablydamaging	
AGBL5		inserm.fr	GRCh37	2	27290508	27290508	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC923T																					ENST00000360131.4:c.2236A>G	p.Ile746Val	p.I746V	ENST00000360131	NM_021831.5	746	Ata/Gta	0	not done		benign	
ABHD1		inserm.fr	GRCh37	2	27351366	27351366	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC805T																					ENST00000316470.4:c.172A>G	p.Ile58Val	p.I58V	ENST00000316470	NM_032604.3	58	Atc/Gtc	0	not done		benign	
SLC4A7		inserm.fr	GRCh37	3	27431423	27431423	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			BCM439T																					ENST00000295736.5:c.3332T>C	p.Met1111Thr	p.M1111T	ENST00000295736	NM_003615.4	1111	aTg/aCg	0	validated		probablydamaging	
SLC9A1		inserm.fr	GRCh37	1	27434217	27434217	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1041T									Valid												ENST00000263980.3:c.1204A>C	p.Thr402Pro	p.T402P	ENST00000263980	NM_003047.4	402	Acg/Ccg	0	validated		probablydamaging	
SMCHD1		inserm.fr	GRCh37	18	2743858	2743858	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T																					ENST00000320876.6:c.3733A>G	p.Ile1245Val	p.I1245V	ENST00000320876	NM_015295.2	1245	Att/Gtt	0	validated		benign	
GTF3C1		inserm.fr	GRCh37	16	27499566	27499566	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM723T																					ENST00000356183.4:c.3682A>C	p.Ile1228Leu	p.I1228L	ENST00000356183	NM_001520.3	1228	Atc/Ctc	0	validated		benign	
IFT172		inserm.fr	GRCh37	2	27668691	27668691	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1028T																					ENST00000260570.3:c.4835T>C	p.Leu1612Pro	p.L1612P	ENST00000260570	NM_015662.1	1612	cTa/cCa	0	not done		probablydamaging	
KIAA0556		inserm.fr	GRCh37	16	27689190	27689190	+	synonymous_variant	Silent	SNP	A	G	G			CHC1044T																					ENST00000261588.4:c.681A>G	p.Arg227=	p.R227=	ENST00000261588	NM_015202.2	227	agA/agG	0	not done		synonymous	
SMCHD1		inserm.fr	GRCh37	18	2770035	2770035	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2110Tbis																					ENST00000320876.6:c.4895A>G	p.Gln1632Arg	p.Q1632R	ENST00000320876	NM_015295.2	1632	cAa/cGa	0	not done		benign	
PTCHD3		inserm.fr	GRCh37	10	27702733	27702733	+	synonymous_variant	Silent	SNP	T	G	G			CHC703T																					ENST00000438700.3:c.447A>C	p.Thr149=	p.T149=	ENST00000438700	NM_001034842.3	149	acA/acC	0	not done		synonymous	
EOMES		inserm.fr	GRCh37	3	27759014	27759014	+	synonymous_variant	Silent	SNP	A	G	G			CHC1616T																					ENST00000295743.4:c.1608T>C	p.Tyr536=	p.Y536=	ENST00000295743	NM_005442.3	536	taT/taC	0	not done		synonymous	
DCAF8L2		inserm.fr	GRCh37	X	27765798	27765798	+	synonymous_variant	Silent	SNP	A	G	G			CHC1629T																					ENST00000451261.2:c.786A>G	p.Pro262=	p.P262=	ENST00000451261	NM_001136533.1	262	ccA/ccG	0	not done		synonymous	
ZNF512		inserm.fr	GRCh37	2	27822517	27822517	+	synonymous_variant	Silent	SNP	A	G	G			CHC314T																					ENST00000355467.4:c.345A>G	p.Glu115=	p.E115=	ENST00000355467	NM_001271289.1	115	gaA/gaG	0	validated		synonymous	
ZNF512		inserm.fr	GRCh37	2	27826141	27826141	+	synonymous_variant	Silent	SNP	A	G	G			CHC1602T																					ENST00000355467.4:c.903A>G	p.Gly301=	p.G301=	ENST00000355467	NM_001271289.1	301	ggA/ggG	0	not done		synonymous	
MANSC4		inserm.fr	GRCh37	12	27924201	27924201	+	synonymous_variant	Silent	SNP	C	G	G			BCM375T																					ENST00000381273.3:c.9G>C	p.Val3=	p.V3=	ENST00000381273	NM_001146221.1	3	gtG/gtC	0	validated		synonymous	
KLHL42		inserm.fr	GRCh37	12	27944670	27944670	+	stop_gained	Nonsense_Mutation	SNP	C	G	G			CHC1040T																					ENST00000381271.2:c.902C>G	p.Ser301Ter	p.S301*	ENST00000381271	NM_020782.1	301	tCa/tGa	0	not done		damaging	
CORO6		inserm.fr	GRCh37	17	27946683	27946683	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1720T																					ENST00000345068.5:c.307G>C	p.Asp103His	p.D103H	ENST00000345068		103	Gac/Cac	0	not done		probablydamaging	
MTIF3		inserm.fr	GRCh37	13	28010023	28010023	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1600T																					ENST00000381116.1:c.626T>C	p.Ile209Thr	p.I209T	ENST00000381116		209	aTa/aCa	0	validated		probablydamaging	
RBKS		inserm.fr	GRCh37	2	28070962	28070962	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	G	G			CHC1055T																					ENST00000302188.3:c.225T>C	p.Val75=	p.V75=	ENST00000302188	NM_022128.1	75	gtT/gtC	0	validated		synonymous	
ZSCAN16		inserm.fr	GRCh37	6	28093259	28093259	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1207T																					ENST00000340487.4:c.38T>G	p.Leu13Arg	p.L13R	ENST00000340487	NM_025231.1	13	cTt/cGt	0	not done		probablydamaging	
SRRM2		inserm.fr	GRCh37	16	2814596	2814596	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1091T																					ENST00000301740.8:c.4067A>G	p.Asn1356Ser	p.N1356S	ENST00000301740	NM_016333.3	1356	aAt/aGt	0	validated		benign	
ZNF554		inserm.fr	GRCh37	19	2823070	2823070	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1053T									Valid												ENST00000317243.5:c.86A>G	p.Glu29Gly	p.E29G	ENST00000317243	NM_001102651.1	29	gAg/gGg	0	validated		possiblydamaging	
PGBD1		inserm.fr	GRCh37	6	28268710	28268710	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1595T																					ENST00000405948.2:c.1079C>G	p.Ser360Cys	p.S360C	ENST00000405948	NM_001184743.1	360	tCt/tGt	0	validated		probablydamaging	
AZI2		inserm.fr	GRCh37	3	28365878	28365878	+	synonymous_variant	Silent	SNP	A	G	G			BCM759T																					ENST00000479665.1:c.834T>C	p.Phe278=	p.F278=	ENST00000479665	NM_022461.4	278	ttT/ttC	0	validated		synonymous	
HERC2		inserm.fr	GRCh37	15	28389034	28389034	+	synonymous_variant	Silent	SNP	C	G	G			CHC884T																					ENST00000261609.7:c.11403G>C	p.Gly3801=	p.G3801=	ENST00000261609	NM_004667.5	3801	ggG/ggC	0	validated		synonymous	
VPS16		inserm.fr	GRCh37	20	2842304	2842304	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC097T																					ENST00000380445.3:c.853T>G	p.Trp285Gly	p.W285G	ENST00000380445	NM_022575.2	285	Tgg/Ggg	0	not done		probablydamaging	
HERC2		inserm.fr	GRCh37	15	28517430	28517430	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC796T									Valid												ENST00000261609.7:c.1014G>C	p.Leu338Phe	p.L338F	ENST00000261609	NM_004667.5	338	ttG/ttC	0	validated		probablydamaging	
ZMYND11		inserm.fr	GRCh37	10	285406	285406	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1183T																					ENST00000397962.3:c.638A>G	p.Tyr213Cys	p.Y213C	ENST00000397962		213	tAt/tGt	0	not done		probablydamaging	
SLC6A4		inserm.fr	GRCh37	17	28548823	28548823	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1594T																					ENST00000401766.2:c.154A>C	p.Ser52Arg	p.S52R	ENST00000401766		52	Agt/Cgt	0	not done		benign	
CCDC91		inserm.fr	GRCh37	12	28603321	28603321	+	synonymous_variant	Silent	SNP	A	G	G			CHC059T																					ENST00000545336.1:c.894A>G	p.Arg298=	p.R298=	ENST00000545336		298	agA/agG	0	validated		synonymous	
SESN2		inserm.fr	GRCh37	1	28607265	28607265	+	synonymous_variant	Silent	SNP	A	G	G			CHC1207T																					ENST00000253063.3:c.1395A>G	p.Gln465=	p.Q465=	ENST00000253063	NM_031459.4	465	caA/caG	0	not done		synonymous	
ATXN2L		inserm.fr	GRCh37	16	28841271	28841271	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB231T																					ENST00000395547.2:c.926A>G	p.Tyr309Cys	p.Y309C	ENST00000395547	NM_148414.2	309	tAc/tGc	0	validated		probablydamaging	
EMILIN2		inserm.fr	GRCh37	18	2892076	2892076	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC121T									Valid												ENST00000254528.3:c.1951A>G	p.Arg651Gly	p.R651G	ENST00000254528	NM_032048.2	651	Agg/Ggg	0	validated		benign	
RAP1GAP2		inserm.fr	GRCh37	17	2901613	2901613	+	synonymous_variant	Silent	SNP	A	G	G			CHC465T																					ENST00000254695.8:c.1143A>G	p.Leu381=	p.L381=	ENST00000254695	NM_015085.4	381	ttA/ttG	0	validated		synonymous	
CPVL		inserm.fr	GRCh37	7	29035390	29035390	+	stop_lost	Nonstop_Mutation	SNP	A	G	G			CHC1592T																					ENST00000409850.1:c.1429T>C	p.Ter477GlnextTer14	p.*477Qext*14	ENST00000409850		477	Taa/Caa	0	not done			
OR2B3		inserm.fr	GRCh37	6	29054772	29054772	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC304T									Valid												ENST00000377173.2:c.254T>C	p.Ile85Thr	p.I85T	ENST00000377173	NM_001005226.2	85	aTt/aCt	0	validated		benign	
OR2J1		inserm.fr	GRCh37	6	29069466	29069466	+	synonymous_variant	Silent	SNP	A	G	G			CHC1743T																					ENST00000377171.3:c.747A>G	p.Val249=	p.V249=	ENST00000377171		249	gtA/gtG	0	not done		synonymous	
SLC22A18AS		inserm.fr	GRCh37	11	2909779	2909779	+	synonymous_variant	Silent	SNP	T	G	G			CHC1201T																					ENST00000533594.1:c.393A>C	p.Ala131=	p.A131=	ENST00000533594	NM_007105.2	131	gcA/gcC	0	not done		synonymous	
B4GALT6		inserm.fr	GRCh37	18	29205584	29205584	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCB301T																					ENST00000306851.5:c.1142A>C	p.Asp381Ala	p.D381A	ENST00000306851	NM_004775.3	381	gAc/gCc	0	validated		possiblydamaging	
FOXG1		inserm.fr	GRCh37	14	29237708	29237708	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1591T																					ENST00000382535.3:c.1223A>G	p.Asn408Ser	p.N408S	ENST00000382535		408	aAc/aGc	0	not done		possiblydamaging	
C2orf71		inserm.fr	GRCh37	2	29294919	29294919	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM723T																					ENST00000331664.5:c.2209A>C	p.Thr737Pro	p.T737P	ENST00000331664	NM_001029883.2	737	Act/Cct	0	validated		probablydamaging	
OR5V1		inserm.fr	GRCh37	6	29323870	29323870	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1205T																					ENST00000377154.1:c.103T>C	p.Tyr35His	p.Y35H	ENST00000377154		35	Tat/Cat	0	not done		probablydamaging	
ZNF77		inserm.fr	GRCh37	19	2934038	2934038	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC302T																					ENST00000314531.4:c.1087T>C	p.Tyr363His	p.Y363H	ENST00000314531	NM_021217.2	363	Tac/Cac	0	validated		probablydamaging	
APBA2		inserm.fr	GRCh37	15	29346198	29346198	+	synonymous_variant	Silent	SNP	C	G	G			CHC1746T																					ENST00000558402.1:c.111C>G	p.Pro37=	p.P37=	ENST00000558402		37	ccC/ccG	0	not done		synonymous	
OR12D2		inserm.fr	GRCh37	6	29364536	29364536	+	synonymous_variant	Silent	SNP	A	G	G			CHC1591T																					ENST00000383555.2:c.60A>G	p.Glu20=	p.E20=	ENST00000383555	NM_013936.3	20	gaA/gaG	0	not done		synonymous	
CNTN4		inserm.fr	GRCh37	3	2942492	2942492	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM337T																					ENST00000397461.1:c.1064C>G	p.Pro355Arg	p.P355R	ENST00000397461	NM_001206955.1	355	cCt/cGt	0	validated		benign	
ZNRF3		inserm.fr	GRCh37	22	29439420	29439420	+	splice_donor_variant	Splice_Site	SNP	T	G	G			CHC1742T																					ENST00000544604.2:c.633+2T>G		p.X211_splice	ENST00000544604	NM_001206998.1			0	not done		damaging	
ZNRF3		inserm.fr	GRCh37	22	29446410	29446410	+	synonymous_variant	Silent	SNP	T	G	G			CHC301T																					ENST00000544604.2:c.2241T>G	p.Gly747=	p.G747=	ENST00000544604	NM_001206998.1	747	ggT/ggG	0	validated		synonymous	
ZNRF3		inserm.fr	GRCh37	22	29446850	29446850	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM371T																					ENST00000544604.2:c.2681C>G	p.Pro894Arg	p.P894R	ENST00000544604	NM_001206998.1	894	cCg/cGg	0	validated		possiblydamaging	
PTPRA		inserm.fr	GRCh37	20	2945717	2945717	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1041T																					ENST00000380393.3:c.284A>G	p.Asn95Ser	p.N95S	ENST00000380393	NM_002836.3	95	aAt/aGt	0	validated		benign	
ATHL1		inserm.fr	GRCh37	11	294716	294716	+	synonymous_variant	Silent	SNP	C	G	G			BCM325T																					ENST00000409548.2:c.2181C>G	p.Thr727=	p.T727=	ENST00000409548	NM_025092.4	727	acC/acG	0	validated		synonymous	
RBMS3		inserm.fr	GRCh37	3	29476282	29476282	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2141T																					ENST00000383767.2:c.124A>G	p.Thr42Ala	p.T42A	ENST00000383767		42	Aca/Gca	0	validated		benign	
CSMD1		inserm.fr	GRCh37	8	2949177	2949177	+	synonymous_variant	Silent	SNP	A	G	G			CHC1534T																					ENST00000537824.1:c.7146T>C	p.Ser2382=	p.S2382=	ENST00000537824	NM_033225.5	2382	tcT/tcC	0	validated		synonymous	
NF1		inserm.fr	GRCh37	17	29541542	29541542	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1531T																					ENST00000358273.4:c.1466A>G	p.Tyr489Cys	p.Y489C	ENST00000358273	NM_001042492.2	489	tAt/tGt	0	validated		probablydamaging	
OMG		inserm.fr	GRCh37	17	29623141	29623141	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM617T																					ENST00000247271.4:c.209T>C	p.Leu70Pro	p.L70P	ENST00000247271	NM_002544.4	70	cTg/cCg	0	validated		probablydamaging	
OMG		inserm.fr	GRCh37	17	29623158	29623158	+	synonymous_variant	Silent	SNP	A	G	G			CHC451T																					ENST00000247271.4:c.192T>C	p.Tyr64=	p.Y64=	ENST00000247271	NM_002544.4	64	taT/taC	0	not done		synonymous	
EVI2B		inserm.fr	GRCh37	17	29632541	29632541	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC303T									Valid												ENST00000330927.4:c.87G>C	p.Glu29Asp	p.E29D	ENST00000330927	NM_006495.3	29	gaG/gaC	0	validated		possiblydamaging	
EVI2A		inserm.fr	GRCh37	17	29645740	29645740	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC051T									Valid												ENST00000247270.3:c.361T>C	p.Ser121Pro	p.S121P	ENST00000247270	NM_001003927.2	121	Tct/Cct	0	validated		probablydamaging	
SPN		inserm.fr	GRCh37	16	29675765	29675765	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1704T																					ENST00000360121.3:c.716A>G	p.Asn239Ser	p.N239S	ENST00000360121	NM_001030288.2	239	aAc/aGc	0	not done		benign	
NF1		inserm.fr	GRCh37	17	29684049	29684049	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1209T																					ENST00000358273.4:c.7810C>G	p.Leu2604Val	p.L2604V	ENST00000358273	NM_001042492.2	2604	Ctc/Gtc	0	not done		probablydamaging	
CARD11		inserm.fr	GRCh37	7	2974112	2974112	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1205T																					ENST00000396946.4:c.1493G>C	p.Arg498Pro	p.R498P	ENST00000396946	NM_032415.4	498	cGc/cCc	0	not done		benign	
MAZ		inserm.fr	GRCh37	16	29821429	29821429	+	3_prime_UTR_variant	3'UTR	SNP	A	G	G			CHC917T																					ENST00000219782.6:c.*54A>G		*18*	ENST00000219782	NM_001042539.2			0	validated		synonymous	
MVP		inserm.fr	GRCh37	16	29848155	29848155	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1079T																					ENST00000357402.5:c.785A>G	p.Asp262Gly	p.D262G	ENST00000357402	NM_017458.3	262	gAt/gGt	0	not done		benign	
PTPRA		inserm.fr	GRCh37	20	2987998	2987998	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1708T																					ENST00000380393.3:c.838T>G	p.Ser280Ala	p.S280A	ENST00000380393	NM_002836.3	280	Tct/Gct	0	not done		probablydamaging	
KCNA4		inserm.fr	GRCh37	11	30033524	30033524	+	synonymous_variant	Silent	SNP	A	G	G			CHC1041T																					ENST00000328224.6:c.702T>C	p.Tyr234=	p.Y234=	ENST00000328224	NM_002233.3	234	taT/taC	0	validated		synonymous	
NF2		inserm.fr	GRCh37	22	30077471	30077471	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC798T									Valid												ENST00000338641.4:c.1618A>G	p.Asn540Asp	p.N540D	ENST00000338641	NM_000268.3	540	Aat/Gat	0	validated		possiblydamaging	
GRK4		inserm.fr	GRCh37	4	3021553	3021553	+	synonymous_variant	Silent	SNP	A	G	G			CHC1751T																					ENST00000398052.4:c.927A>G	p.Val309=	p.V309=	ENST00000398052	NM_182982.2	309	gtA/gtG	0	not done		synonymous	
PKMYT1		inserm.fr	GRCh37	16	3025345	3025345	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2103T																					ENST00000262300.8:c.847T>C	p.Tyr283His	p.Y283H	ENST00000262300	NM_001258450.1	283	Tat/Cat	0	not done		benign	
KLHL14		inserm.fr	GRCh37	18	30260202	30260202	+	synonymous_variant	Silent	SNP	T	G	G			CHC307T																					ENST00000359358.4:c.1518A>C	p.Thr506=	p.T506=	ENST00000359358	NM_020805.1	506	acA/acC	0	validated		synonymous	
OR1G1		inserm.fr	GRCh37	17	3030658	3030658	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1569T																					ENST00000328890.2:c.188T>C	p.Leu63Pro	p.L63P	ENST00000328890	NM_003555.1	63	cTa/cCa	0	not done		probablydamaging	
SUZ12		inserm.fr	GRCh37	17	30315463	30315463	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC303T									Valid												ENST00000322652.5:c.1148A>G	p.Glu383Gly	p.E383G	ENST00000322652	NM_015355.2	383	gAg/gGg	0	validated		benign	
KIAA1462		inserm.fr	GRCh37	10	30317195	30317195	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC796T																					ENST00000375377.1:c.1882T>C	p.Ser628Pro	p.S628P	ENST00000375377	NM_020848.2	628	Tct/Cct	0	validated		probablydamaging	
SUZ12		inserm.fr	GRCh37	17	30323846	30323846	+	synonymous_variant	Silent	SNP	A	G	G			CHC909T																					ENST00000322652.5:c.1824A>G	p.Glu608=	p.E608=	ENST00000322652	NM_015355.2	608	gaA/gaG	0	not done		synonymous	
LRRC37B		inserm.fr	GRCh37	17	30348953	30348953	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1744T																					ENST00000341671.7:c.788A>G	p.Glu263Gly	p.E263G	ENST00000341671	NM_052888.2	263	gAg/gGg	0	not done		probablydamaging	
ARL14EP		inserm.fr	GRCh37	11	30352682	30352682	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2362T																					ENST00000282032.3:c.187A>G	p.Ile63Val	p.I63V	ENST00000282032	NM_152316.1	63	Att/Gtt	0	validated		probablydamaging	
SEPT1		inserm.fr	GRCh37	16	30389992	30389992	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2099T																					ENST00000321367.3:c.1097T>C	p.Ile366Thr	p.I366T	ENST00000321367	NM_052838.4	366	aTc/aCc	0	not done		benign	
ZNRF2		inserm.fr	GRCh37	7	30395436	30395436	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC923T																					ENST00000323037.4:c.658A>G	p.Ile220Val	p.I220V	ENST00000323037	NM_147128.3	220	Ata/Gta	0	not done		benign	
GNL1		inserm.fr	GRCh37	6	30523935	30523935	+	synonymous_variant	Silent	SNP	A	G	G			CHC304T																					ENST00000376621.3:c.46T>C	p.Leu16=	p.L16=	ENST00000376621	NM_005275.3	16	Ttg/Ctg	0	validated		synonymous	
GSR		inserm.fr	GRCh37	8	30546801	30546801	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC302T																					ENST00000221130.5:c.918A>C	p.Glu306Asp	p.E306D	ENST00000221130	NM_000637.3	306	gaA/gaC	0	validated		benign	
ABCF1		inserm.fr	GRCh37	6	30550267	30550267	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM683T																					ENST00000326195.8:c.775A>G	p.Lys259Glu	p.K259E	ENST00000326195	NM_001025091.1	259	Aaa/Gaa	0	validated		probablydamaging	
CSMD1		inserm.fr	GRCh37	8	3063144	3063144	+	splice_acceptor_variant	Splice_Site	SNP	T	G	G			CHC1183T																					ENST00000537824.1:c.4868-2A>C		p.X1623_splice	ENST00000537824	NM_033225.5			0	not done		damaging	
C17orf75		inserm.fr	GRCh37	17	30658871	30658871	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1720T																					ENST00000577809.1:c.1102A>C	p.Lys368Gln	p.K368Q	ENST00000577809	NM_022344.3	368	Aaa/Caa	0	not done		probablydamaging	
MDC1		inserm.fr	GRCh37	6	30673177	30673177	+	synonymous_variant	Silent	SNP	A	G	G			CHC1568T																					ENST00000376406.3:c.3783T>C	p.Thr1261=	p.T1261=	ENST00000376406	NM_014641.2	1261	acT/acC	0	not done		synonymous	
HCK		inserm.fr	GRCh37	20	30689310	30689310	+	synonymous_variant	Silent	SNP	A	G	G			CHC891T																					ENST00000375852.2:c.1569A>G	p.Gln523=	p.Q523=	ENST00000375852		523	caA/caG	0	not done		synonymous	
TGFBR2		inserm.fr	GRCh37	3	30713215	30713215	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000359013.4:c.615A>G	p.Ile205Met	p.I205M	ENST00000359013	NM_001024847.2	205	atA/atG	0	validated		possiblydamaging	
TGFBR2		inserm.fr	GRCh37	3	30713329	30713329	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2110Tbis																					ENST00000359013.4:c.729C>G	p.Ile243Met	p.I243M	ENST00000359013	NM_001024847.2	243	atC/atG	0	not done		benign	
PCDH7		inserm.fr	GRCh37	4	30724965	30724965	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC437T																					ENST00000543491.1:c.1921C>G	p.Gln641Glu	p.Q641E	ENST00000543491		641	Cag/Gag	0	not done		probablydamaging	
SRCAP		inserm.fr	GRCh37	16	30732165	30732165	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1185T																					ENST00000262518.4:c.3119C>G	p.Pro1040Arg	p.P1040R	ENST00000262518	NM_006662.2	1040	cCa/cGa	0	not done		benign	
SRCAP		inserm.fr	GRCh37	16	30748827	30748827	+	stop_gained	Nonsense_Mutation	SNP	C	G	G			CHC1745T																					ENST00000262518.4:c.7466C>G	p.Ser2489Ter	p.S2489*	ENST00000262518	NM_006662.2	2489	tCa/tGa	0	not done		damaging	
SRCAP		inserm.fr	GRCh37	16	30750209	30750209	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1774T																					ENST00000262518.4:c.8848A>G	p.Ile2950Val	p.I2950V	ENST00000262518	NM_006662.2	2950	Atc/Gtc	0	validated		benign	
PHKG2		inserm.fr	GRCh37	16	30764615	30764615	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2052T																					ENST00000563588.1:c.389C>G	p.Thr130Ser	p.T130S	ENST00000563588	NM_000294.2	130	aCc/aGc	0	not done		benign	
INMT		inserm.fr	GRCh37	7	30793376	30793376	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1749T																					ENST00000013222.5:c.184A>G	p.Ile62Val	p.I62V	ENST00000013222	NM_006774.4	62	Att/Gtt	0	not done		benign	
INMT		inserm.fr	GRCh37	7	30793394	30793394	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1629T																					ENST00000013222.5:c.202A>G	p.Ile68Val	p.I68V	ENST00000013222	NM_006774.4	68	Atc/Gtc	0	not done		possiblydamaging	
PURG		inserm.fr	GRCh37	8	30854117	30854117	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC793T																					ENST00000339382.2:c.961G>C	p.Glu321Gln	p.E321Q	ENST00000339382	NM_001015508.1	321	Gag/Cag	0	validated			
PURG		inserm.fr	GRCh37	8	30889943	30889943	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC469T									Valid												ENST00000475541.1:c.356T>C	p.Leu119Pro	p.L119P	ENST00000475541	NM_013357.2	119	cTa/cCa	0	validated		probablydamaging	
GADL1		inserm.fr	GRCh37	3	30891587	30891587	+	synonymous_variant	Silent	SNP	A	G	G			CHC1742T																					ENST00000282538.5:c.552T>C	p.Asn184=	p.N184=	ENST00000282538	NM_207359.2	184	aaT/aaC	0	not done		synonymous	
KIF3B		inserm.fr	GRCh37	20	30898067	30898067	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC429T									Valid												ENST00000375712.3:c.487A>G	p.Arg163Gly	p.R163G	ENST00000375712	NM_004798.3	163	Agg/Ggg	0	not done		probablydamaging	
ASXL1		inserm.fr	GRCh37	20	30956816	30956816	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC1719T																					ENST00000375687.4:c.144-2A>G		p.X48_splice	ENST00000375687	NM_015338.5			0	not done		damaging	
GRIK1		inserm.fr	GRCh37	21	30968868	30968868	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC322T																					ENST00000399907.1:c.1229A>C	p.His410Pro	p.H410P	ENST00000399907	NM_000830.3	410	cAc/cCc	0	validated		probablydamaging	
SETD1A		inserm.fr	GRCh37	16	30976118	30976118	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1566T																					ENST00000262519.8:c.1055C>G	p.Ser352Cys	p.S352C	ENST00000262519	NM_014712.1	352	tCt/tGt	0	not done		probablydamaging	
CAPN13		inserm.fr	GRCh37	2	30987113	30987113	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC703T																					ENST00000295055.8:c.584T>C	p.Leu195Pro	p.L195P	ENST00000295055	NM_144575.2	195	cTc/cCc	0	validated		probablydamaging	
MUC22		inserm.fr	GRCh37	6	30994125	30994125	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC218T																					ENST00000561890.1:c.917A>G	p.Gln306Arg	p.Q306R	ENST00000561890	NM_001198815.1	306	cAg/cGg	0	validated			
ZNF536		inserm.fr	GRCh37	19	31039282	31039282	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC304T									Valid												ENST00000355537.3:c.2756A>G	p.Gln919Arg	p.Q919R	ENST00000355537	NM_014717.1	919	cAa/cGa	0	validated		probablydamaging	
G2E3		inserm.fr	GRCh37	14	31074896	31074896	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM769T																					ENST00000206595.6:c.1196A>G	p.Asp399Gly	p.D399G	ENST00000206595	NM_017769.3	399	gAt/gGt	0	validated		possiblydamaging	
ZNF646		inserm.fr	GRCh37	16	31088045	31088045	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC703T																					ENST00000300850.5:c.400A>G	p.Ser134Gly	p.S134G	ENST00000300850	NM_014699.3	134	Agt/Ggt	0	validated		benign	
OR1A1		inserm.fr	GRCh37	17	3119627	3119627	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2127T																					ENST00000304094.1:c.713C>G	p.Ser238Cys	p.S238C	ENST00000304094	NM_014565.2	238	tCc/tGc	0	not done		benign	
OR1A1		inserm.fr	GRCh37	17	3119630	3119630	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1763T																					ENST00000304094.1:c.716C>G	p.Thr239Ser	p.T239S	ENST00000304094	NM_014565.2	239	aCc/aGc	0	not done		probablydamaging	
FAN1		inserm.fr	GRCh37	15	31196867	31196867	+	start_lost	Translation_Start_Site	SNP	A	G	G			CHC1763T																					ENST00000362065.4:c.1A>G	p.Met1?	p.M1?	ENST00000362065	NM_014967.4	1	Atg/Gtg	0	not done		benign	
USPL1		inserm.fr	GRCh37	13	31205573	31205573	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC432T																					ENST00000255304.4:c.830A>G	p.Asn277Ser	p.N277S	ENST00000255304	NM_005800.4	277	aAt/aGt	0	not done		benign	
GNA11		inserm.fr	GRCh37	19	3121154	3121154	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2358T																					ENST00000078429.4:c.1057C>G	p.Leu353Val	p.L353V	ENST00000078429	NM_002067.2	353	Ctc/Gtc	0	validated		probablydamaging	
DDX11		inserm.fr	GRCh37	12	31255227	31255227	+	synonymous_variant	Silent	SNP	A	G	G			CHC1183T																					ENST00000407793.2:c.2253A>G	p.Ala751=	p.A751=	ENST00000407793	NM_030653.3	751	gcA/gcG	0	not done		synonymous	
CDH6		inserm.fr	GRCh37	5	31317559	31317559	+	synonymous_variant	Silent	SNP	A	G	G			CHC794T																					ENST00000265071.2:c.1590A>G	p.Glu530=	p.E530=	ENST00000265071	NM_004932.3	530	gaA/gaG	0	validated		synonymous	
ASIC2		inserm.fr	GRCh37	17	31355319	31355319	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM399T									Valid												ENST00000225823.2:c.1079T>C	p.Ile360Thr	p.I360T	ENST00000225823	NM_183377.1	360	aTt/aCt	0	validated		probablydamaging	
ITGAD		inserm.fr	GRCh37	16	31421804	31421804	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1756T																					ENST00000389202.2:c.1172A>G	p.Asn391Ser	p.N391S	ENST00000389202	NM_005353.2	391	aAc/aGc	0	not done		probablydamaging	
ZSCAN10		inserm.fr	GRCh37	16	3142688	3142688	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1712T																					ENST00000252463.2:c.86T>C	p.Leu29Pro	p.L29P	ENST00000252463	NM_032805.1	29	cTg/cCg	0	not done		possiblydamaging	
ITGAD		inserm.fr	GRCh37	16	31429802	31429802	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	G	G			CHC429T									Valid												ENST00000389202.2:c.2697T>G	p.Ser899Arg	p.S899R	ENST00000389202	NM_005353.2	899	agT/agG	0	validated		probablydamaging	
MICB		inserm.fr	GRCh37	6	31474898	31474898	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCB307T																					ENST00000252229.6:c.713C>G	p.Thr238Ser	p.T238S	ENST00000252229	NM_005931.3	238	aCc/aGc	0	validated		benign	
TGFB1I1		inserm.fr	GRCh37	16	31487485	31487485	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2208T																					ENST00000394863.3:c.867C>G	p.Phe289Leu	p.F289L	ENST00000394863	NM_001042454.2	289	ttC/ttG	0	not done		benign	
ELP4		inserm.fr	GRCh37	11	31541630	31541630	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC889T																					ENST00000350638.5:c.251T>G	p.Leu84Arg	p.L84R	ENST00000350638	NM_019040.3	84	cTt/cGt	0	not done		possiblydamaging	
SUN5		inserm.fr	GRCh37	20	31584158	31584158	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM325T																					ENST00000356173.3:c.397A>C	p.Ser133Arg	p.S133R	ENST00000356173	NM_080675.3	133	Agc/Cgc	0	validated		possiblydamaging	
BPIFB2		inserm.fr	GRCh37	20	31606624	31606624	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1756T																					ENST00000170150.3:c.851A>G	p.Gln284Arg	p.Q284R	ENST00000170150	NM_025227.2	284	cAg/cGg	0	not done		probablydamaging	
BPIFB2		inserm.fr	GRCh37	20	31607439	31607439	+	synonymous_variant	Silent	SNP	T	G	G			CHC301T																					ENST00000170150.3:c.963T>G	p.Gly321=	p.G321=	ENST00000170150	NM_025227.2	321	ggT/ggG	0	validated		synonymous	
LIMK2		inserm.fr	GRCh37	22	31671196	31671196	+	synonymous_variant	Silent	SNP	C	G	G			CHC1624T																					ENST00000340552.4:c.1611C>G	p.Leu537=	p.L537=	ENST00000340552	NM_001031801.1	537	ctC/ctG	0	validated		synonymous	
TRNT1		inserm.fr	GRCh37	3	3170741	3170741	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1629T																					ENST00000251607.6:c.17A>G	p.Tyr6Cys	p.Y6C	ENST00000251607	NM_182916.2	6	tAt/tGt	0	not done		benign	
PPP1R17		inserm.fr	GRCh37	7	31746886	31746886	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1725T																					ENST00000342032.3:c.457A>G	p.Ile153Val	p.I153V	ENST00000342032	NM_006658.4	153	Ata/Gta	0	not done		benign	
OTUD7A		inserm.fr	GRCh37	15	31776580	31776580	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC794T																					ENST00000307050.4:c.1698G>C	p.Lys566Asn	p.K566N	ENST00000307050	NM_130901.1	566	aaG/aaC	0	validated		probablydamaging	
HSPA1B		inserm.fr	GRCh37	6	31797508	31797508	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1747T																					ENST00000375650.3:c.1781A>G	p.His594Arg	p.H594R	ENST00000375650	NM_005346.4	594	cAc/cGc	0	validated		probablydamaging	
KRTAP13-4		inserm.fr	GRCh37	21	31802860	31802860	+	synonymous_variant	Silent	SNP	C	G	G			CHC798T																					ENST00000334068.2:c.267C>G	p.Ser89=	p.S89=	ENST00000334068	NM_181600.1	89	tcC/tcG	0	validated		synonymous	
PAX6		inserm.fr	GRCh37	11	31823260	31823260	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1010T																					ENST00000419022.1:c.248G>C	p.Arg83Thr	p.R83T	ENST00000419022	NM_001258462.1	83	aGg/aCg	0	not done		probablydamaging	
SLC44A4		inserm.fr	GRCh37	6	31838681	31838681	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC902T																					ENST00000229729.6:c.845T>C	p.Val282Ala	p.V282A	ENST00000229729	NM_025257.2	282	gTg/gCg	0	not done		benign	
C2		inserm.fr	GRCh37	6	31903833	31903833	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC301T																					ENST00000299367.5:c.983A>G	p.Tyr328Cys	p.Y328C	ENST00000299367	NM_000063.4	328	tAt/tGt	0	validated		probablydamaging	
HTT		inserm.fr	GRCh37	4	3190760	3190760	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1744T																					ENST00000355072.5:c.5308A>G	p.Thr1770Ala	p.T1770A	ENST00000355072	NM_002111.6	1770	Act/Gct	0	not done		probablydamaging	
ZNF213		inserm.fr	GRCh37	16	3190814	3190814	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC320T																					ENST00000396878.3:c.846C>G	p.Ser282Arg	p.S282R	ENST00000396878	NM_001134655.1	282	agC/agG	0	validated		benign	
STK19		inserm.fr	GRCh37	6	31948477	31948477	+	synonymous_variant	Silent	SNP	A	G	G			CHC2029T																					ENST00000375331.2:c.948A>G	p.Glu316=	p.E316=	ENST00000375331	NM_004197.1	316	gaA/gaG	0	validated		synonymous	
STK19		inserm.fr	GRCh37	6	31948477	31948477	+	synonymous_variant	Silent	SNP	A	G	G			CHC2216T																					ENST00000375331.2:c.948A>G	p.Glu316=	p.E316=	ENST00000375331	NM_004197.1	316	gaA/gaG	0	validated		synonymous	
KRTAP6-2		inserm.fr	GRCh37	21	31971142	31971142	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1209T																					ENST00000334897.3:c.52T>C	p.Cys18Arg	p.C18R	ENST00000334897	NM_181604.1	18	Tgt/Cgt	0	not done		probablydamaging	
PITRM1		inserm.fr	GRCh37	10	3201158	3201158	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2099T																					ENST00000380989.2:c.1084T>C	p.Tyr362His	p.Y362H	ENST00000380989	NM_014889.3	362	Tac/Cac	0	not done		probablydamaging	
TNXB		inserm.fr	GRCh37	6	32020465	32020465	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1915T									Valid												ENST00000375244.3:c.9097T>C	p.Ser3033Pro	p.S3033P	ENST00000375244		3033	Tcc/Ccc	0	validated		probablydamaging	
PITRM1		inserm.fr	GRCh37	10	3207524	3207524	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	G	G			CHC889T																					ENST00000380989.2:c.536A>C	p.Gln179Pro	p.Q179P	ENST00000380989	NM_014889.3	179	cAg/cCg	0	not done		probablydamaging	
COL16A1		inserm.fr	GRCh37	1	32134410	32134410	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM545T																					ENST00000373672.3:c.3242G>C	p.Gly1081Ala	p.G1081A	ENST00000373672	NM_001856.3	1081	gGg/gCg	0	validated		probablydamaging	
KIAA1551		inserm.fr	GRCh37	12	32137213	32137213	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1531T																					ENST00000312561.4:c.3324A>G	p.Ile1108Met	p.I1108M	ENST00000312561	NM_018169.3	1108	atA/atG	0	not done		benign	
COL16A1		inserm.fr	GRCh37	1	32145272	32145272	+	synonymous_variant	Silent	SNP	A	G	G			CHC2103T																					ENST00000373672.3:c.2733T>C	p.Ile911=	p.I911=	ENST00000373672	NM_001856.3	911	atT/atC	0	not done		synonymous	
RNF5		inserm.fr	GRCh37	6	32147657	32147657	+	synonymous_variant	Silent	SNP	A	G	G			BCM265T																					ENST00000375094.3:c.276A>G	p.Leu92=	p.L92=	ENST00000375094	NM_006913.3	92	ttA/ttG	0	validated		synonymous	
E2F1		inserm.fr	GRCh37	20	32266014	32266014	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM325T									Valid												ENST00000343380.5:c.718A>C	p.Ser240Arg	p.S240R	ENST00000343380	NM_005225.2	240	Agc/Cgc	0	validated		possiblydamaging	
RXFP2		inserm.fr	GRCh37	13	32363267	32363267	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2103T																					ENST00000298386.2:c.1082A>G	p.Glu361Gly	p.E361G	ENST00000298386	NM_130806.3	361	gAa/gGa	0	not done		benign	
BTNL2		inserm.fr	GRCh37	6	32364111	32364111	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1743T																					ENST00000454136.3:c.783A>C	p.Glu261Asp	p.E261D	ENST00000454136		261	gaA/gaC	0	not done		probablydamaging	
RXFP2		inserm.fr	GRCh37	13	32367056	32367056	+	synonymous_variant	Silent	SNP	A	G	G			CHC1616T																					ENST00000298386.2:c.1617A>G	p.Ser539=	p.S539=	ENST00000298386	NM_130806.3	539	tcA/tcG	0	not done		synonymous	
MXRA5		inserm.fr	GRCh37	X	3239260	3239260	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1556T																					ENST00000217939.6:c.4466A>C	p.Lys1489Thr	p.K1489T	ENST00000217939	NM_015419.3	1489	aAg/aCg	0	not done		benign	
ACO1		inserm.fr	GRCh37	9	32421005	32421005	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1082T																					ENST00000309951.6:c.950T>G	p.Ile317Ser	p.I317S	ENST00000309951	NM_002197.2	317	aTc/aGc	0	validated		benign	
C11orf36		inserm.fr	GRCh37	11	3243067	3243067	+	non_coding_transcript_exon_variant	RNA	SNP	C	G	G			CHC1708T																					ENST00000420873.2:n.529C>G		*177*	ENST00000420873				0	not done			
RFX3		inserm.fr	GRCh37	9	3248007	3248007	+	intron_variant	Intron	SNP	T	G	G			CHC051T																					ENST00000382004.3:c.1968+25A>C		*656*	ENST00000382004	NM_134428.1			0	validated			
SLC5A1		inserm.fr	GRCh37	22	32480488	32480488	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1205T																					ENST00000266088.4:c.727A>G	p.Ile243Val	p.I243V	ENST00000266088	NM_000343.3	243	Ata/Gta	0	not done		benign	
MXRA5		inserm.fr	GRCh37	X	3248780	3248780	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1601T																					ENST00000217939.6:c.223T>C	p.Phe75Leu	p.F75L	ENST00000217939	NM_015419.3	75	Ttt/Ctt	0	not done		possiblydamaging	
KHDRBS1		inserm.fr	GRCh37	1	32497197	32497197	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1531T																					ENST00000327300.7:c.580A>G	p.Lys194Glu	p.K194E	ENST00000327300	NM_006559.2	194	Aag/Gag	0	not done		probablydamaging	
HLA-DRB5		inserm.fr	GRCh37	6	32497934	32497934	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC805T																					ENST00000374975.3:c.68G>C	p.Ser23Thr	p.S23T	ENST00000374975	NM_002125.3	23	aGc/aCc	0	validated		probablydamaging	
CSMD1		inserm.fr	GRCh37	8	3253870	3253870	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000537824.1:c.2439G>C	p.Glu813Asp	p.E813D	ENST00000537824	NM_033225.5	813	gaG/gaC	0	not done		probablydamaging	
ARHGAP5		inserm.fr	GRCh37	14	32562847	32562847	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1185T																					ENST00000345122.3:c.2972A>G	p.Tyr991Cys	p.Y991C	ENST00000345122	NM_001030055.1	991	tAt/tGt	0	not done		probablydamaging	
ARHGAP5		inserm.fr	GRCh37	14	32621729	32621729	+	synonymous_variant	Silent	SNP	A	G	G			BCM489T																					ENST00000345122.3:c.4176A>G	p.Leu1392=	p.L1392=	ENST00000345122	NM_001030055.1	1392	ctA/ctG	0	validated		synonymous	
TAF1L		inserm.fr	GRCh37	9	32631637	32631637	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC218T																					ENST00000242310.4:c.3941T>C	p.Met1314Thr	p.M1314T	ENST00000242310	NM_153809.2	1314	aTg/aCg	0	validated		probablydamaging	
TXLNA		inserm.fr	GRCh37	1	32646113	32646113	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			BCB151T																					ENST00000373609.1:c.167A>G	p.Glu56Gly	p.E56G	ENST00000373609		56	gAg/gGg	0	validated		benign	
BIRC6		inserm.fr	GRCh37	2	32800396	32800396	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1600T																					ENST00000421745.2:c.13318A>G	p.Met4440Val	p.M4440V	ENST00000421745	NM_016252.3	4440	Atg/Gtg	0	not done		possiblydamaging	
DMD		inserm.fr	GRCh37	X	32834622	32834622	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC301T									Valid												ENST00000357033.4:c.493G>C	p.Asp165His	p.D165H	ENST00000357033	NM_004007.2	165	Gat/Cat	0	validated		probablydamaging	
FBXO7		inserm.fr	GRCh37	22	32879961	32879961	+	synonymous_variant	Silent	SNP	C	G	G			CHC1035T																					ENST00000266087.7:c.495C>G	p.Pro165=	p.P165=	ENST00000266087	NM_012179.3	165	ccC/ccG	0	validated		synonymous	
FBXO7		inserm.fr	GRCh37	22	32894291	32894291	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2216T																					ENST00000266087.7:c.1343A>G	p.Tyr448Cys	p.Y448C	ENST00000266087	NM_012179.3	448	tAt/tGt	0	not done		probablydamaging	
BRCA2		inserm.fr	GRCh37	13	32911413	32911413	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC469T																					ENST00000380152.3:c.2921A>G	p.Asp974Gly	p.D974G	ENST00000380152		974	gAc/gGc	0	validated		benign	
BRCA2		inserm.fr	GRCh37	13	32931911	32931911	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000380152.3:c.7650A>G	p.Ile2550Met	p.I2550M	ENST00000380152		2550	atA/atG	0	not done		benign	
ZBTB8B		inserm.fr	GRCh37	1	32936372	32936372	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	G	G			BCM275T									Valid												ENST00000480336.1:c.147C>G	p.Phe49Leu	p.F49L	ENST00000480336		49	ttC/ttG	0	validated		probablydamaging	
QSER1		inserm.fr	GRCh37	11	32955116	32955116	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM543T																					ENST00000399302.2:c.1925T>G	p.Leu642Arg	p.L642R	ENST00000399302	NM_001076786.1	642	cTt/cGt	0	validated		probablydamaging	
GREM1		inserm.fr	GRCh37	15	33023432	33023432	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1611T																					ENST00000300177.4:c.541A>G	p.Ile181Val	p.I181V	ENST00000300177	NM_001191322.1	181	Atc/Gtc	0	not done		benign	
ITCH		inserm.fr	GRCh37	20	33026327	33026327	+	synonymous_variant	Silent	SNP	A	G	G			CHC2351T																					ENST00000262650.6:c.693A>G	p.Glu231=	p.E231=	ENST00000262650		231	gaA/gaG	0	not done		synonymous	
DNAJA1		inserm.fr	GRCh37	9	33036620	33036620	+	synonymous_variant	Silent	SNP	A	G	G			CHC2052T																					ENST00000330899.4:c.807A>G	p.Ala269=	p.A269=	ENST00000330899	NM_001539.2	269	gcA/gcG	0	not done		synonymous	
ITCH		inserm.fr	GRCh37	20	33049998	33049998	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1081T																					ENST00000262650.6:c.1519A>G	p.Ile507Val	p.I507V	ENST00000262650		507	Ata/Gta	0	validated		benign	
DEPDC7		inserm.fr	GRCh37	11	33050151	33050151	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC1595T																					ENST00000241051.3:c.595A>G	p.Ile199Val	p.I199V	ENST00000241051	NM_001077242.1	199	Att/Gtt	0	validated		benign	
MEFV		inserm.fr	GRCh37	16	3306471	3306471	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1731T																					ENST00000219596.1:c.117G>C	p.Arg39Ser	p.R39S	ENST00000219596	NM_000243.2	39	agG/agC	0	not done		probablydamaging	
CSTF3		inserm.fr	GRCh37	11	33106700	33106700	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM723T																					ENST00000323959.4:c.2087A>C	p.Glu696Ala	p.E696A	ENST00000323959	NM_001326.2	696	gAa/gCa	0	validated		benign	
CSTF3		inserm.fr	GRCh37	11	33118463	33118463	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1207T																					ENST00000323959.4:c.1190T>C	p.Ile397Thr	p.I397T	ENST00000323959	NM_001326.2	397	aTa/aCa	0	not done		possiblydamaging	
COL11A2		inserm.fr	GRCh37	6	33156954	33156954	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1569T																					ENST00000374708.4:c.244A>C	p.Lys82Gln	p.K82Q	ENST00000374708	NM_080681.2	82	Aaa/Caa	0	not done		benign	
SLC39A7		inserm.fr	GRCh37	6	33169893	33169893	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM703T																					ENST00000374677.3:c.625T>G	p.Ser209Ala	p.S209A	ENST00000374677	NM_006979.2	209	Tcc/Gcc	0	validated		benign	
SUSD5		inserm.fr	GRCh37	3	33216540	33216540	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1186T																					ENST00000309558.3:c.436T>C	p.Phe146Leu	p.F146L	ENST00000309558	NM_015551.1	146	Ttc/Ctc	0	not done		probablydamaging	
KIAA1522		inserm.fr	GRCh37	1	33236007	33236007	+	synonymous_variant	Silent	SNP	A	G	G			CHC1731T																					ENST00000401073.2:c.1227A>G	p.Pro409=	p.P409=	ENST00000401073	NM_020888.2	409	ccA/ccG	0	not done		synonymous	
ZNF830		inserm.fr	GRCh37	17	33289670	33289670	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC205T									Valid												ENST00000361952.3:c.1085C>G	p.Ser362Cys	p.S362C	ENST00000361952	NM_052857.3	362	tCt/tGt	0	validated		probablydamaging	
AKAP6		inserm.fr	GRCh37	14	33293406	33293406	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1152T																					ENST00000280979.4:c.6387A>G	p.Ile2129Met	p.I2129M	ENST00000280979	NM_004274.4	2129	atA/atG	0	not done		possiblydamaging	
HIPK3		inserm.fr	GRCh37	11	33309053	33309053	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1053T									Valid												ENST00000303296.4:c.1093T>G	p.Tyr365Asp	p.Y365D	ENST00000303296	NM_005734.4	365	Tac/Gac	0	validated		probablydamaging	
OR1E2		inserm.fr	GRCh37	17	3337106	3337106	+	synonymous_variant	Silent	SNP	T	G	G			BCM269T																					ENST00000248384.1:c.30A>C	p.Ser10=	p.S10=	ENST00000248384	NM_003554.1	10	tcA/tcC	0	validated		synonymous	
HIPK3		inserm.fr	GRCh37	11	33373152	33373152	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC320T									Valid												ENST00000303296.4:c.2808-2A>G		p.X936_splice	ENST00000303296	NM_005734.4			0	validated		damaging	
ACSS2		inserm.fr	GRCh37	20	33509145	33509145	+	synonymous_variant	Silent	SNP	A	G	G			CHC361TA																					ENST00000253382.5:c.1329A>G	p.Ala443=	p.A443=	ENST00000253382	NM_001076552.2	443	gcA/gcG	0	validated		synonymous	
ACSS2		inserm.fr	GRCh37	20	33509626	33509626	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1594T																					ENST00000253382.5:c.1544A>G	p.Asn515Ser	p.N515S	ENST00000253382	NM_001076552.2	515	aAt/aGt	0	not done		benign	
ELP2		inserm.fr	GRCh37	18	33710012	33710012	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1746T																					ENST00000442325.2:c.116C>G	p.Ser39Cys	p.S39C	ENST00000442325	NM_001242875.1	39	tCc/tGc	0	not done		probablydamaging	
RASGRP3		inserm.fr	GRCh37	2	33741662	33741662	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1044T																					ENST00000403687.3:c.124C>G	p.His42Asp	p.H42D	ENST00000403687	NM_001139488.1	42	Cac/Gac	0	not done		probablydamaging	
FBXO3		inserm.fr	GRCh37	11	33790487	33790487	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1085T																					ENST00000265651.3:c.268A>C	p.Ile90Leu	p.I90L	ENST00000265651	NM_012175.3	90	Att/Ctt	0	validated		benign	
MOCOS		inserm.fr	GRCh37	18	33795641	33795641	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2052T																					ENST00000261326.5:c.1498C>G	p.Gln500Glu	p.Q500E	ENST00000261326	NM_017947.2	500	Cag/Gag	0	not done		benign	
PRSS3		inserm.fr	GRCh37	9	33796777	33796777	+	synonymous_variant	Silent	SNP	A	G	G			CHC917T																					ENST00000361005.5:c.348A>G	p.Val116=	p.V116=	ENST00000361005	NM_007343.3	116	gtA/gtG	0	validated		synonymous	
RYR3		inserm.fr	GRCh37	15	33905420	33905420	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000389232.4:c.2201A>G	p.His734Arg	p.H734R	ENST00000389232	NM_001036.3	734	cAc/cGc	0	validated		probablydamaging	
RYR3		inserm.fr	GRCh37	15	33922220	33922220	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1629T																					ENST00000389232.4:c.2759T>G	p.Leu920Arg	p.L920R	ENST00000389232	NM_001036.3	920	cTg/cGg	0	not done		probablydamaging	
AP2B1		inserm.fr	GRCh37	17	33925278	33925278	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1534T																					ENST00000312678.8:c.67A>G	p.Asn23Asp	p.N23D	ENST00000312678	NM_001030006.1	23	Aac/Gac	0	validated		benign	
AP2B1		inserm.fr	GRCh37	17	33951504	33951504	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1531T																					ENST00000312678.8:c.614A>G	p.Asn205Ser	p.N205S	ENST00000312678	NM_001030006.1	205	aAt/aGt	0	not done		benign	
AP2B1		inserm.fr	GRCh37	17	33977709	33977709	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1745T																					ENST00000312678.8:c.1697A>G	p.His566Arg	p.H566R	ENST00000312678	NM_001030006.1	566	cAc/cGc	0	not done		possiblydamaging	
RYR3		inserm.fr	GRCh37	15	33993260	33993260	+	synonymous_variant	Silent	SNP	A	G	G			BCM531T																					ENST00000389232.4:c.6462A>G	p.Leu2154=	p.L2154=	ENST00000389232	NM_001036.3	2154	ttA/ttG	0	validated		synonymous	
CEP250		inserm.fr	GRCh37	20	34061764	34061764	+	synonymous_variant	Silent	SNP	A	G	G			CHC1035T																					ENST00000397527.1:c.1458A>G	p.Ala486=	p.A486=	ENST00000397527	NM_007186.3	486	gcA/gcG	0	validated		synonymous	
GAS2L2		inserm.fr	GRCh37	17	34073307	34073307	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2099T																					ENST00000254466.6:c.1209G>C	p.Arg403Ser	p.R403S	ENST00000254466	NM_139285.3	403	agG/agC	0	not done		probablydamaging	
CAPRIN1		inserm.fr	GRCh37	11	34119314	34119314	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	G	G			CHC1602T																					ENST00000341394.4:c.2065+6A>G		p.X689_splice	ENST00000341394	NM_005898.4			0	not done			
FAM47A		inserm.fr	GRCh37	X	34149419	34149419	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1754T																					ENST00000346193.3:c.977G>C	p.Arg326Pro	p.R326P	ENST00000346193	NM_203408.3	326	cGc/cCc	0	not done		possiblydamaging	
ABTB2		inserm.fr	GRCh37	11	34181491	34181491	+	synonymous_variant	Silent	SNP	A	G	G			BCM567T																					ENST00000435224.2:c.2568T>C	p.Phe856=	p.F856=	ENST00000435224	NM_145804.2	856	ttT/ttC	0	validated		synonymous	
RGS12		inserm.fr	GRCh37	4	3418818	3418818	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC898T																					ENST00000344733.5:c.2606A>G	p.Lys869Arg	p.K869R	ENST00000344733	NM_198229.2	869	aAg/aGg	0	not done		possiblydamaging	
FHOD3		inserm.fr	GRCh37	18	34238040	34238040	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC794T									Valid												ENST00000257209.4:c.1199A>G	p.Tyr400Cys	p.Y400C	ENST00000257209	NM_025135.2	400	tAc/tGc	0	validated		probablydamaging	
RGS12		inserm.fr	GRCh37	4	3424661	3424661	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2029T																					ENST00000344733.5:c.3063C>G	p.Ile1021Met	p.I1021M	ENST00000344733	NM_198229.2	1021	atC/atG	0	not done		probablydamaging	
NPAS3		inserm.fr	GRCh37	14	34263230	34263230	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC097T																					ENST00000356141.4:c.1281C>G	p.Ile427Met	p.I427M	ENST00000356141		427	atC/atG	0	not done		probablydamaging	
MEGF6		inserm.fr	GRCh37	1	3428244	3428244	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM723T																					ENST00000356575.4:c.984G>C	p.Glu328Asp	p.E328D	ENST00000356575	NM_001409.3	328	gaG/gaC	0	validated		probablydamaging	
HMGB4		inserm.fr	GRCh37	1	34330225	34330225	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1044T																					ENST00000522796.1:c.433A>G	p.Arg145Gly	p.R145G	ENST00000522796		145	Aga/Gga	0	not done		possiblydamaging	
NUDT2		inserm.fr	GRCh37	9	34343353	34343353	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC793T																					ENST00000379158.2:c.359A>G	p.Glu120Gly	p.E120G	ENST00000379158	NM_001161.4	120	gAg/gGg	0	validated		benign	
KIAA1161		inserm.fr	GRCh37	9	34372838	34372838	+	start_lost	Translation_Start_Site	SNP	A	G	G			CHC1738T																					ENST00000297625.7:c.2T>C	p.Met1?	p.M1?	ENST00000297625	NM_020702.3	1	aTg/aCg	0	not done		possiblydamaging	
EMC7		inserm.fr	GRCh37	15	34382616	34382616	+	synonymous_variant	Silent	SNP	T	G	G			BCM529T																					ENST00000256545.4:c.397A>C	p.Arg133=	p.R133=	ENST00000256545	NM_020154.2	133	Aga/Cga	0	validated		synonymous	
DNAI1		inserm.fr	GRCh37	9	34490059	34490059	+	synonymous_variant	Silent	SNP	A	G	G			CHC2358T																					ENST00000242317.4:c.438A>G	p.Glu146=	p.E146=	ENST00000242317	NM_012144.3	146	gaA/gaG	0	validated		synonymous	
C21orf54		inserm.fr	GRCh37	21	34542444	34542444	+	splice_donor_variant	Splice_Site	SNP	A	G	G			CHC1044T																					ENST00000451980.2:c.29+2T>C		p.X10_splice	ENST00000451980				0	not done		damaging	
TGIF1		inserm.fr	GRCh37	18	3457753	3457753	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM711T																					ENST00000330513.5:c.1021T>G	p.Ser341Ala	p.S341A	ENST00000330513	NM_170695.3	341	Tct/Gct	0	validated		benign	
IFNAR2		inserm.fr	GRCh37	21	34634921	34634921	+	intron_variant	Intron	SNP	A	G	G			CHC1601T																					ENST00000342136.4:c.841-177A>G		*281*	ENST00000342136				0	not done			
IL10RB		inserm.fr	GRCh37	21	34652126	34652126	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1742T																					ENST00000290200.2:c.401C>G	p.Pro134Arg	p.P134R	ENST00000290200	NM_000628.4	134	cCt/cGt	0	not done		probablydamaging	
FAM205A		inserm.fr	GRCh37	9	34728612	34728612	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000378788.3:c.184T>C	p.Ser62Pro	p.S62P	ENST00000378788	NM_001141917.1	62	Tca/Cca	0	not done		probablydamaging	
EPB41L1		inserm.fr	GRCh37	20	34783267	34783267	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1603T																					ENST00000338074.2:c.1466C>G	p.Thr489Arg	p.T489R	ENST00000338074	NM_012156.2	489	aCg/aGg	0	not done		probablydamaging	
RAI14		inserm.fr	GRCh37	5	34823695	34823695	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC218T																					ENST00000515799.1:c.1757A>G	p.Tyr586Cys	p.Y586C	ENST00000515799	NM_001145525.1	586	tAt/tGt	0	validated		probablydamaging	
BLTP3A		inserm.fr	GRCh37	6	34826918	34826918	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1595T																					ENST00000192788.5:c.2785C>G	p.Pro929Ala	p.P929A	ENST00000192788	NM_017754.3	929	Cct/Gct	0	validated		probablydamaging	
AAR2		inserm.fr	GRCh37	20	34832763	34832763	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1010T																					ENST00000373932.3:c.902T>G	p.Ile301Ser	p.I301S	ENST00000373932	NM_015511.4	301	aTc/aGc	0	not done		probablydamaging	
TAF11		inserm.fr	GRCh37	6	34848108	34848108	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1719T																					ENST00000361288.4:c.366A>C	p.Glu122Asp	p.E122D	ENST00000361288	NM_005643.3	122	gaA/gaC	0	not done		probablydamaging	
TTC23L		inserm.fr	GRCh37	5	34850338	34850338	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM703T																					ENST00000505624.1:c.304A>G	p.Ile102Val	p.I102V	ENST00000505624	NM_144725.3	102	Att/Gtt	0	validated		benign	
CELF4		inserm.fr	GRCh37	18	34854408	34854408	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC892T																					ENST00000420428.2:c.667T>C	p.Ser223Pro	p.S223P	ENST00000420428	NM_020180.3	223	Tcc/Ccc	0	not done		benign	
GART		inserm.fr	GRCh37	21	34876449	34876449	+	synonymous_variant	Silent	SNP	A	G	G			CHC1531T																					ENST00000381831.3:c.3015T>C	p.Cys1005=	p.C1005=	ENST00000381831	NM_001136005.1	1005	tgT/tgC	0	not done		synonymous	
NPSR1		inserm.fr	GRCh37	7	34884506	34884506	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC1741T																					ENST00000359791.1:c.758-2A>G		p.X253_splice	ENST00000359791	NM_207173.1			0	not done		damaging	
PIGW		inserm.fr	GRCh37	17	34893791	34893791	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC326T									Valid												ENST00000592983.1:c.841C>G	p.Leu281Val	p.L281V	ENST00000592983		281	Ctg/Gtg	0	validated		probablydamaging	
SON		inserm.fr	GRCh37	21	34926552	34926552	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1600T																					ENST00000356577.4:c.5015A>G	p.Asn1672Ser	p.N1672S	ENST00000356577	NM_138927.2	1672	aAt/aGt	0	not done		probablydamaging	
GGNBP2		inserm.fr	GRCh37	17	34945772	34945772	+	synonymous_variant	Silent	SNP	A	G	G			BCM337T																					ENST00000304718.4:c.2025A>G	p.Lys675=	p.K675=	ENST00000304718	NM_024835.4	675	aaA/aaG	0	validated		synonymous	
UBA2		inserm.fr	GRCh37	19	34959955	34959955	+	synonymous_variant	Silent	SNP	A	G	G			CHC437T																					ENST00000246548.4:c.1752A>G	p.Gln584=	p.Q584=	ENST00000246548	NM_005499.2	584	caA/caG	0	not done		synonymous	
FAM47B		inserm.fr	GRCh37	X	34962253	34962253	+	synonymous_variant	Silent	SNP	A	G	G			CHC2215T																					ENST00000329357.5:c.1305A>G	p.Leu435=	p.L435=	ENST00000329357	NM_152631.2	435	ctA/ctG	0	not done		synonymous	
BAZ1A		inserm.fr	GRCh37	14	35240721	35240721	+	synonymous_variant	Silent	SNP	T	G	G			CHC1720T																					ENST00000360310.1:c.3297A>C	p.Pro1099=	p.P1099=	ENST00000360310	NM_013448.2	1099	ccA/ccC	0	not done		synonymous	
BAZ1A		inserm.fr	GRCh37	14	35240756	35240756	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1738T																					ENST00000360310.1:c.3262G>C	p.Glu1088Gln	p.E1088Q	ENST00000360310	NM_013448.2	1088	Gag/Cag	0	not done		possiblydamaging	
BAZ1A		inserm.fr	GRCh37	14	35245224	35245224	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1186T																					ENST00000360310.1:c.2734G>C	p.Gly912Arg	p.G912R	ENST00000360310	NM_013448.2	912	Gga/Cga	0	not done		probablydamaging	
CUL2		inserm.fr	GRCh37	10	35324141	35324141	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1731T																					ENST00000537177.1:c.1018G>C	p.Asp340His	p.D340H	ENST00000537177	NM_001198779.1	340	Gat/Cat	0	not done		benign	
FZR1		inserm.fr	GRCh37	19	3533382	3533382	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC320T									Valid												ENST00000395095.3:c.1333C>G	p.Arg445Gly	p.R445G	ENST00000395095	NM_001136198.1	445	Cgc/Ggc	0	validated		probablydamaging	
RPL10A		inserm.fr	GRCh37	6	35436620	35436620	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM439T																					ENST00000322203.6:c.50T>G	p.Val17Gly	p.V17G	ENST00000322203	NM_007104.4	17	gTc/gGc	0	validated		possiblydamaging	
SAMHD1		inserm.fr	GRCh37	20	35533889	35533889	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1700T																					ENST00000262878.4:c.1288A>C	p.Ile430Leu	p.I430L	ENST00000262878	NM_015474.3	430	Att/Ctt	0	not done		possiblydamaging	
ZMYM1		inserm.fr	GRCh37	1	35579508	35579508	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM275T																					ENST00000373330.1:c.2077T>G	p.Leu693Val	p.L693V	ENST00000373330		693	Tta/Gta	0	validated		benign	
LGI4		inserm.fr	GRCh37	19	35617469	35617469	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1081T																					ENST00000310123.3:c.1004A>C	p.Asp335Ala	p.D335A	ENST00000310123	NM_139284.2	335	gAt/gCt	0	validated		probablydamaging	
SPEF2		inserm.fr	GRCh37	5	35644455	35644455	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC1616T																					ENST00000356031.3:c.415-2A>G		p.X139_splice	ENST00000356031	NM_024867.3			0	not done		possiblydamaging	
RBL1		inserm.fr	GRCh37	20	35649099	35649099	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2216T																					ENST00000373664.3:c.2594T>C	p.Met865Thr	p.M865T	ENST00000373664	NM_002895.3	865	aTg/aCg	0	not done		possiblydamaging	
SPEF2		inserm.fr	GRCh37	5	35692682	35692682	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1629T																					ENST00000356031.3:c.1755A>G	p.Ile585Met	p.I585M	ENST00000356031	NM_024867.3	585	atA/atG	0	not done		benign	
TLN1		inserm.fr	GRCh37	9	35707744	35707744	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1763T																					ENST00000314888.9:c.4616T>C	p.Leu1539Pro	p.L1539P	ENST00000314888	NM_006289.3	1539	cTt/cCt	0	not done		probablydamaging	
GBA2		inserm.fr	GRCh37	9	35741732	35741732	+	synonymous_variant	Silent	SNP	A	G	G			CHC1756T																					ENST00000378103.3:c.723T>C	p.Leu241=	p.L241=	ENST00000378103	NM_020944.2	241	ctT/ctC	0	not done		synonymous	
SPAG8		inserm.fr	GRCh37	9	35811508	35811508	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1079T																					ENST00000340291.2:c.535T>C	p.Ser179Pro	p.S179P	ENST00000340291	NM_172312.1	179	Tct/Cct	0	not done		benign	
SPAG8		inserm.fr	GRCh37	9	35811508	35811508	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1154T																					ENST00000340291.2:c.535T>C	p.Ser179Pro	p.S179P	ENST00000340291	NM_172312.1	179	Tct/Cct	0	not done		benign	
ZMYM4		inserm.fr	GRCh37	1	35824699	35824699	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2098T																					ENST00000314607.6:c.259A>G	p.Ser87Gly	p.S87G	ENST00000314607	NM_005095.2	87	Agt/Ggt	0	not done		possiblydamaging	
SYNRG		inserm.fr	GRCh37	17	35896194	35896194	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1715T																					ENST00000339208.6:c.3553G>C	p.Glu1185Gln	p.E1185Q	ENST00000339208	NM_001163544.1	1185	Gag/Cag	0	not done		probablydamaging	
SYNRG		inserm.fr	GRCh37	17	35913586	35913586	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1531T																					ENST00000339208.6:c.2239G>C	p.Val747Leu	p.V747L	ENST00000339208	NM_001163544.1	747	Gtc/Ctc	0	not done		possiblydamaging	
NBEA		inserm.fr	GRCh37	13	35926393	35926393	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000400445.3:c.6112C>G	p.Gln2038Glu	p.Q2038E	ENST00000400445	NM_015678.4	2038	Cag/Gag	0	not done		probablydamaging	
FZD8		inserm.fr	GRCh37	10	35930141	35930141	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1595T																					ENST00000374694.1:c.217T>C	p.Trp73Arg	p.W73R	ENST00000374694	NM_031866.2	73	Tgg/Cgg	0	validated		probablydamaging	
UGT3A1		inserm.fr	GRCh37	5	35965767	35965767	+	synonymous_variant	Silent	SNP	A	G	G			CHC1566T																					ENST00000274278.3:c.564T>C	p.Pro188=	p.P188=	ENST00000274278	NM_152404.3	188	ccT/ccC	0	not done		synonymous	
KIAA0319L		inserm.fr	GRCh37	1	36020038	36020038	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1183T																					ENST00000325722.3:c.55T>C	p.Tyr19His	p.Y19H	ENST00000325722	NM_024874.4	19	Tat/Cat	0	not done		benign	
GAPDHS		inserm.fr	GRCh37	19	36027765	36027765	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1154T																					ENST00000222286.4:c.118C>G	p.Pro40Ala	p.P40A	ENST00000222286	NM_014364.4	40	Cca/Gca	0	not done		probablydamaging	
TMEM147		inserm.fr	GRCh37	19	36038099	36038099	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1915T																					ENST00000222284.5:c.508C>G	p.Leu170Val	p.L170V	ENST00000222284	NM_032635.3	170	Ctc/Gtc	0	validated		benign	
ATP4A		inserm.fr	GRCh37	19	36050929	36050929	+	synonymous_variant	Silent	SNP	A	G	G			CHC1603T																					ENST00000262623.3:c.834T>C	p.Ile278=	p.I278=	ENST00000262623	NM_000704.2	278	atT/atC	0	not done		synonymous	
RECK		inserm.fr	GRCh37	9	36091256	36091256	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1205T																					ENST00000377966.3:c.1001C>G	p.Ser334Cys	p.S334C	ENST00000377966	NM_021111.2	334	tCc/tGc	0	not done		probablydamaging	
LOC402481		inserm.fr	GRCh37	7	36124317	36124317	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000381493.2:c.319C>G	p.His107Asp	p.H107D	ENST00000381493		107	Cat/Gat	0	not done			
ETV2		inserm.fr	GRCh37	19	36134420	36134420	+	synonymous_variant	Silent	SNP	C	G	G			CHC909T																					ENST00000402764.2:c.480C>G	p.Pro160=	p.P160=	ENST00000402764	NM_014209.2	160	ccC/ccG	0	not done		synonymous	
CCIN		inserm.fr	GRCh37	9	36169747	36169747	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC320T									Valid												ENST00000335119.2:c.248A>G	p.Asp83Gly	p.D83G	ENST00000335119	NM_005893.2	83	gAc/gGc	0	validated		probablydamaging	
CLTA		inserm.fr	GRCh37	9	36198983	36198983	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC465T																					ENST00000242285.6:c.263A>G	p.Asn88Ser	p.N88S	ENST00000242285		88	aAt/aGt	0	validated		benign	
MLL4		inserm.fr	GRCh37	19	36219722	36219722	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2103T																					ENST00000222270.7:c.4619A>G	p.Tyr1540Cys	p.Y1540C	ENST00000222270	NM_014727.1	1540	tAt/tGt	0	not done		probablydamaging	
MLL4		inserm.fr	GRCh37	19	36228158	36228158	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1186T																					ENST00000222270.7:c.7544A>G	p.Tyr2515Cys	p.Y2515C	ENST00000222270	NM_014727.1	2515	tAt/tGt	0	not done		probablydamaging	
ARHGAP33		inserm.fr	GRCh37	19	36273321	36273321	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1085T																					ENST00000314737.5:c.1132T>G	p.Phe378Val	p.F378V	ENST00000314737	NM_052948.3	378	Ttc/Gtc	0	validated		probablydamaging	
SLX4		inserm.fr	GRCh37	16	3634806	3634806	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB157T																					ENST00000294008.3:c.4703T>C	p.Ile1568Thr	p.I1568T	ENST00000294008	NM_032444.2	1568	aTt/aCt	0	validated		possiblydamaging	
KIRREL2		inserm.fr	GRCh37	19	36352048	36352048	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000360202.5:c.1081C>G	p.Arg361Gly	p.R361G	ENST00000360202	NM_032123.5	361	Cgt/Ggt	0	not done		possiblydamaging	
KIRREL2		inserm.fr	GRCh37	19	36352446	36352446	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000360202.5:c.1193C>G	p.Pro398Arg	p.P398R	ENST00000360202	NM_032123.5	398	cCc/cGc	0	not done		probablydamaging	
EIF2C1		inserm.fr	GRCh37	1	36354201	36354201	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1738T																					ENST00000373204.4:c.199A>G	p.Arg67Gly	p.R67G	ENST00000373204	NM_012199.2	67	Aga/Gga	0	not done		benign	
RP11-1407O15.2		inserm.fr	GRCh37	17	36357181	36357181	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000520237.1:c.1072T>C	p.Trp358Arg	p.W358R	ENST00000520237		358	Tgg/Cgg	0	not done			
EIF2C1		inserm.fr	GRCh37	1	36384688	36384688	+	synonymous_variant	Silent	SNP	T	G	G			BCM339T																					ENST00000373204.4:c.2298T>G	p.Leu766=	p.L766=	ENST00000373204	NM_012199.2	766	ctT/ctG	0	validated		synonymous	
SLX4		inserm.fr	GRCh37	16	3640582	3640582	+	synonymous_variant	Silent	SNP	A	G	G			CHC1148T																					ENST00000294008.3:c.3057T>C	p.Ser1019=	p.S1019=	ENST00000294008	NM_032444.2	1019	tcT/tcC	0	not done		synonymous	
LRFN3		inserm.fr	GRCh37	19	36430433	36430433	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1081T																					ENST00000588831.1:c.106A>G	p.Thr36Ala	p.T36A	ENST00000588831		36	Aca/Gca	0	validated		benign	
STK38		inserm.fr	GRCh37	6	36492138	36492138	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC923T																					ENST00000229812.7:c.286G>C	p.Gly96Arg	p.G96R	ENST00000229812	NM_007271.2	96	Ggc/Cgc	0	not done		probablydamaging	
EIF2C3		inserm.fr	GRCh37	1	36505935	36505935	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC326T									Valid												ENST00000373191.4:c.2065C>G	p.Arg689Gly	p.R689G	ENST00000373191	NM_024852.3	689	Cga/Gga	0	validated		probablydamaging	
DCLK1		inserm.fr	GRCh37	13	36521495	36521495	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC1185T																					ENST00000255448.4:c.823G>C	p.Glu275Gln	p.E275Q	ENST00000255448	NM_004734.4	275	Gaa/Caa	0	not done		possiblydamaging	
STAC		inserm.fr	GRCh37	3	36587700	36587700	+	synonymous_variant	Silent	SNP	A	G	G			CHC097T																					ENST00000273183.3:c.1128A>G	p.Glu376=	p.E376=	ENST00000273183	NM_003149.1	376	gaA/gaG	0	not done		synonymous	
TTI1		inserm.fr	GRCh37	20	36631048	36631048	+	synonymous_variant	Silent	SNP	A	G	G			CHC1741T																					ENST00000373448.2:c.2634T>C	p.Asn878=	p.N878=	ENST00000373448	NM_014657.1	878	aaT/aaC	0	not done		synonymous	
TTI1		inserm.fr	GRCh37	20	36642037	36642037	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC307T									Valid												ENST00000373448.2:c.182A>C	p.Lys61Thr	p.K61T	ENST00000373448	NM_014657.1	61	aAg/aCg	0	validated		probablydamaging	
CDKN1A		inserm.fr	GRCh37	6	36651879	36651879	+	start_lost	Translation_Start_Site	SNP	A	G	G			CHC1601T																					ENST00000244741.5:c.1A>G	p.Met1?	p.M1?	ENST00000244741	NM_000389.4	1	Atg/Gtg	0	not done		benign	
CDKN1A		inserm.fr	GRCh37	6	36651921	36651921	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1201T																					ENST00000244741.5:c.43A>G	p.Ser15Gly	p.S15G	ENST00000244741	NM_000389.4	15	Agc/Ggc	0	not done		benign	
CPNE5		inserm.fr	GRCh37	6	36712929	36712929	+	splice_acceptor_variant	Splice_Site	SNP	T	G	G			CHC1915T									Valid												ENST00000244751.2:c.1329-2A>C		p.X443_splice	ENST00000244751	NM_020939.1			0	validated		damaging	
KCNU1		inserm.fr	GRCh37	8	36790539	36790539	+	synonymous_variant	Silent	SNP	A	G	G			CHC433T																					ENST00000399881.3:c.3033A>G	p.Pro1011=	p.P1011=	ENST00000399881	NM_001031836.2	1011	ccA/ccG	0	validated		synonymous	
RP11-419C23.1		inserm.fr	GRCh37	8	36925203	36925203	+	non_coding_transcript_exon_variant	RNA	SNP	C	G	G			CHC1040T																					ENST00000523411.1:n.395G>C		*132*	ENST00000523411				0	not done			
ZNF566		inserm.fr	GRCh37	19	36940452	36940452	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC314T									Valid												ENST00000454319.1:c.687A>C	p.Glu229Asp	p.E229D	ENST00000454319	NM_001145343.1	229	gaA/gaC	0	validated		probablydamaging	
CCNA1		inserm.fr	GRCh37	13	37006783	37006783	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000255465.4:c.25A>G	p.Met9Val	p.M9V	ENST00000255465		9	Atg/Gtg	0	validated		benign	
NUP98		inserm.fr	GRCh37	11	3700784	3700784	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC2103T																					ENST00000324932.7:c.5073G>C	p.Gln1691His	p.Q1691H	ENST00000324932	NM_139132.3	1691	caG/caC	0	not done		probablydamaging	
STRN		inserm.fr	GRCh37	2	37088360	37088360	+	synonymous_variant	Silent	SNP	A	G	G			CHC1534T																					ENST00000263918.4:c.1584T>C	p.Gly528=	p.G528=	ENST00000263918	NM_003162.3	528	ggT/ggC	0	validated		synonymous	
C5orf42		inserm.fr	GRCh37	5	37182956	37182956	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1746T																					ENST00000425232.2:c.5327G>C	p.Arg1776Pro	p.R1776P	ENST00000425232	NM_023073.3	1776	cGt/cCt	0	not done		probablydamaging	
RALGAPB		inserm.fr	GRCh37	20	37199435	37199435	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC051T																					ENST00000262879.6:c.4087A>G	p.Met1363Val	p.M1363V	ENST00000262879		1363	Atg/Gtg	0	validated		benign	
NCF4		inserm.fr	GRCh37	22	37271874	37271874	+	synonymous_variant	Silent	SNP	A	G	G			CHC796T																					ENST00000397147.4:c.807A>G	p.Leu269=	p.L269=	ENST00000397147	NM_013416.3	269	ctA/ctG	0	validated		synonymous	
PRRG1		inserm.fr	GRCh37	X	37312567	37312567	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1749T																					ENST00000542554.1:c.350A>G	p.Glu117Gly	p.E117G	ENST00000542554	NM_001173489.1	117	gAa/gGa	0	not done		benign	
RP11-706O15.1		inserm.fr	GRCh37	X	3736509	3736509	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1531T																					ENST00000425492.2:c.204A>C	p.Arg68Ser	p.R68S	ENST00000425492		68	agA/agC	0	not done			
GOLGA4		inserm.fr	GRCh37	3	37367288	37367288	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM703T																					ENST00000356847.4:c.3977A>G	p.Asn1326Ser	p.N1326S	ENST00000356847	NM_001172713.1	1326	aAt/aGt	0	validated		benign	
ZNF345		inserm.fr	GRCh37	19	37368124	37368124	+	stop_gained	Nonsense_Mutation	SNP	C	G	G			CHC326T																					ENST00000529555.1:c.392C>G	p.Ser131Ter	p.S131*	ENST00000529555		131	tCa/tGa	0	validated		damaging	
GOLGA4		inserm.fr	GRCh37	3	37368374	37368374	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000356847.4:c.5063A>G	p.Tyr1688Cys	p.Y1688C	ENST00000356847	NM_001172713.1	1688	tAt/tGt	0	validated		benign	
CEP104		inserm.fr	GRCh37	1	3742954	3742954	+	synonymous_variant	Silent	SNP	C	G	G			CHC1185T																					ENST00000378230.3:c.2235G>C	p.Pro745=	p.P745=	ENST00000378230	NM_014704.3	745	ccG/ccC	0	not done		synonymous	
SMAD9		inserm.fr	GRCh37	13	37439738	37439738	+	synonymous_variant	Silent	SNP	A	G	G			BCM337T																					ENST00000379826.4:c.939T>C	p.Leu313=	p.L313=	ENST00000379826	NM_001127217.2	313	ctT/ctC	0	validated		synonymous	
RP1-153P14.8		inserm.fr	GRCh37	6	37475453	37475453	+	non_coding_transcript_exon_variant	RNA	SNP	C	G	G			CHC1731T																					ENST00000570443.2:n.330C>G		*110*	ENST00000570443				0	not done			
FBXO10		inserm.fr	GRCh37	9	37512582	37512582	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC609T									Valid												ENST00000432825.2:c.2833T>C	p.Tyr945His	p.Y945H	ENST00000432825	NM_012166.2	945	Tac/Cac	0	validated		possiblydamaging	
CDK12		inserm.fr	GRCh37	17	37627289	37627289	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1591T																					ENST00000447079.4:c.1204A>G	p.Lys402Glu	p.K402E	ENST00000447079	NM_015083.1	402	Aaa/Gaa	0	not done		probablydamaging	
DHX35		inserm.fr	GRCh37	20	37647515	37647515	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1207T																					ENST00000252011.3:c.1471A>G	p.Met491Val	p.M491V	ENST00000252011	NM_021931.3	491	Atg/Gtg	0	not done		probablydamaging	
MORC3		inserm.fr	GRCh37	21	37709238	37709238	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC205T																					ENST00000400485.1:c.179A>G	p.His60Arg	p.H60R	ENST00000400485	NM_015358.2	60	cAt/cGt	0	validated		benign	
MORC3		inserm.fr	GRCh37	21	37709240	37709240	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1205T																					ENST00000400485.1:c.181A>G	p.Ile61Val	p.I61V	ENST00000400485	NM_015358.2	61	Ata/Gta	0	not done		benign	
MORC3		inserm.fr	GRCh37	21	37709292	37709292	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM269T									Valid												ENST00000400485.1:c.233A>G	p.His78Arg	p.H78R	ENST00000400485	NM_015358.2	78	cAt/cGt	0	validated		probablydamaging	
RAX2		inserm.fr	GRCh37	19	3771580	3771580	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1611T																					ENST00000555633.1:c.161T>C	p.Val54Ala	p.V54A	ENST00000555633		54	gTg/gCg	0	not done		benign	
ZNF383		inserm.fr	GRCh37	19	37733503	37733503	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC218T																					ENST00000589413.1:c.365A>G	p.Glu122Gly	p.E122G	ENST00000589413		122	gAa/gGa	0	validated		benign	
ELFN2		inserm.fr	GRCh37	22	37769858	37769858	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC429T																					ENST00000402918.2:c.1717G>C	p.Glu573Gln	p.E573Q	ENST00000402918	NM_052906.3	573	Gag/Cag	0	validated		benign	
GPR141		inserm.fr	GRCh37	7	37780260	37780260	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T									Valid												ENST00000447769.1:c.265A>G	p.Lys89Glu	p.K89E	ENST00000447769		89	Aaa/Gaa	0	validated		probablydamaging	
EXOSC3		inserm.fr	GRCh37	9	37780787	37780787	+	synonymous_variant	Silent	SNP	A	G	G			CHC1207T																					ENST00000327304.5:c.717T>C	p.Val239=	p.V239=	ENST00000327304	NM_016042.3	239	gtT/gtC	0	not done		synonymous	
GDNF		inserm.fr	GRCh37	5	37834879	37834879	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM371T																					ENST00000427982.1:c.71T>C	p.Val24Ala	p.V24A	ENST00000427982	NM_001190468.1	24	gTg/gCg	0	validated		benign	
CAMKK1		inserm.fr	GRCh37	17	3783720	3783720	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1010T																					ENST00000158166.5:c.830T>C	p.Met277Thr	p.M277T	ENST00000158166	NM_172207.2	277	aTg/aCg	0	not done		probablydamaging	
HKR1		inserm.fr	GRCh37	19	37853396	37853396	+	synonymous_variant	Silent	SNP	A	G	G			CHC1148T																					ENST00000324411.4:c.699A>G	p.Val233=	p.V233=	ENST00000324411	NM_181786.2	233	gtA/gtG	0	not done		synonymous	
MIEN1		inserm.fr	GRCh37	17	37885994	37885994	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM695T									Valid												ENST00000394231.3:c.208A>C	p.Asn70His	p.N70H	ENST00000394231		70	Aat/Cat	0	validated		probablydamaging	
CREBBP		inserm.fr	GRCh37	16	3789646	3789646	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM325T																					ENST00000262367.5:c.4213G>C	p.Val1405Leu	p.V1405L	ENST00000262367	NM_004380.2	1405	Gtg/Ctg	0	validated		possiblydamaging	
GGA1		inserm.fr	GRCh37	22	38017655	38017655	+	synonymous_variant	Silent	SNP	C	G	G			BCB109T																					ENST00000343632.4:c.561C>G	p.Pro187=	p.P187=	ENST00000343632	NM_013365.4	187	ccC/ccG	0	validated		synonymous	
ZNF793		inserm.fr	GRCh37	19	38028301	38028301	+	synonymous_variant	Silent	SNP	A	G	G			BCM723T																					ENST00000445217.1:c.741A>G	p.Arg247=	p.R247=	ENST00000445217		247	agA/agG	0	validated		synonymous	
SRPX		inserm.fr	GRCh37	X	38031225	38031225	+	synonymous_variant	Silent	SNP	A	G	G			CHC1061T																					ENST00000378533.3:c.435T>C	p.Tyr145=	p.Y145=	ENST00000378533	NM_006307.4	145	taT/taC	0	validated		synonymous	
TBC1D1		inserm.fr	GRCh37	4	38051475	38051475	+	synonymous_variant	Silent	SNP	T	G	G			CHC303T																					ENST00000261439.4:c.1866T>G	p.Leu622=	p.L622=	ENST00000261439	NM_015173.3	622	ctT/ctG	0	validated		synonymous	
BAG4		inserm.fr	GRCh37	8	38067796	38067796	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC097T																					ENST00000287322.4:c.1159C>G	p.Leu387Val	p.L387V	ENST00000287322	NM_004874.3	387	Ctg/Gtg	0	not done		probablydamaging	
TTC6		inserm.fr	GRCh37	14	38091625	38091625	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1192T																					ENST00000553443.1:c.356A>G	p.Asp119Gly	p.D119G	ENST00000553443		119	gAc/gGc	0	not done			
ZNF540		inserm.fr	GRCh37	19	38103665	38103665	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM339T																					ENST00000592533.1:c.1484A>G	p.Tyr495Cys	p.Y495C	ENST00000592533	NM_152606.4	495	tAc/tGc	0	validated		probablydamaging	
DLEC1		inserm.fr	GRCh37	3	38149117	38149117	+	stop_gained	Nonsense_Mutation	SNP	C	G	G			CHC1207T																					ENST00000308059.6:c.2907C>G	p.Tyr969Ter	p.Y969*	ENST00000308059		969	taC/taG	0	not done		damaging	
TRIOBP		inserm.fr	GRCh37	22	38153826	38153826	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC898T																					ENST00000406386.3:c.5894C>G	p.Thr1965Ser	p.T1965S	ENST00000406386	NM_001039141.2	1965	aCt/aGt	0	not done		benign	
C1orf174		inserm.fr	GRCh37	1	3816750	3816750	+	start_lost	Translation_Start_Site	SNP	T	G	G			CHC1209T																					ENST00000361605.3:c.1A>C	p.Met1?	p.M1?	ENST00000361605	NM_207356.2	1	Atg/Ctg	0	not done		probablydamaging	
MED24		inserm.fr	GRCh37	17	38192015	38192015	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1629T																					ENST00000394128.2:c.286G>C	p.Ala96Pro	p.A96P	ENST00000394128	NM_014815.3	96	Gca/Cca	0	not done		probablydamaging	
WHSC1L1		inserm.fr	GRCh37	8	38194933	38194933	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC326T									Valid												ENST00000317025.8:c.800A>C	p.Lys267Thr	p.K267T	ENST00000317025	NM_023034.1	267	aAg/aCg	0	validated		benign	
WHSC1L1		inserm.fr	GRCh37	8	38194933	38194933	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC326T																					ENST00000317025.8:c.800A>C	p.Lys267Thr	p.K267T	ENST00000317025	NM_023034.1	267	aAg/aCg	0	validated		benign	
ZNF573		inserm.fr	GRCh37	19	38230055	38230055	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC429T									Valid												ENST00000590414.2:c.1336G>C	p.Glu446Gln	p.E446Q	ENST00000590414		446	Gag/Cag	0	validated		probablydamaging	
ZNF25		inserm.fr	GRCh37	10	38242677	38242677	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC884T																					ENST00000302609.7:c.248G>C	p.Trp83Ser	p.W83S	ENST00000302609	NM_145011.2	83	tGg/tCg	0	validated		probablydamaging	
LOC100652860		inserm.fr	GRCh37	14	38286850	38286850	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2352T																					ENST00000553443.1:c.4757A>G	p.His1586Arg	p.H1586R	ENST00000553443		1586	cAt/cGt	0	not done			
CASC3		inserm.fr	GRCh37	17	38320017	38320017	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1738T																					ENST00000264645.7:c.1069A>G	p.Thr357Ala	p.T357A	ENST00000264645	NM_007359.4	357	Act/Gct	0	not done		benign	
LIFR		inserm.fr	GRCh37	5	38486026	38486026	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1065T									Valid												ENST00000263409.4:c.2392A>C	p.Ile798Leu	p.I798L	ENST00000263409	NM_002310.5	798	Att/Ctt	0	validated		probablydamaging	
RARA		inserm.fr	GRCh37	17	38511614	38511614	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM321T																					ENST00000254066.5:c.1112C>G	p.Pro371Arg	p.P371R	ENST00000254066	NM_000964.3	371	cCc/cGc	0	validated		probablydamaging	
SPRED1		inserm.fr	GRCh37	15	38591687	38591687	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM375T																					ENST00000299084.4:c.146A>G	p.His49Arg	p.H49R	ENST00000299084	NM_152594.2	49	cAt/cGt	0	validated		benign	
SCN5A		inserm.fr	GRCh37	3	38648262	38648262	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC884T																					ENST00000413689.1:c.1038G>C	p.Glu346Asp	p.E346D	ENST00000413689	NM_001160160.1	346	gaG/gaC	0	validated		benign	
SCN5A		inserm.fr	GRCh37	3	38674610	38674610	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC469T									Valid												ENST00000413689.1:c.189G>C	p.Lys63Asn	p.K63N	ENST00000413689	NM_001160160.1	63	aaG/aaC	0	validated		benign	
ALG10B		inserm.fr	GRCh37	12	38714754	38714754	+	synonymous_variant	Silent	SNP	A	G	G			CHC1712T																					ENST00000308742.4:c.1161A>G	p.Ser387=	p.S387=	ENST00000308742	NM_001013620.3	387	tcA/tcG	0	not done		synonymous	
CLEC14A		inserm.fr	GRCh37	14	38725041	38725041	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC794T									Valid												ENST00000342213.2:c.187A>C	p.Thr63Pro	p.T63P	ENST00000342213	NM_175060.2	63	Acc/Ccc	0	validated		benign	
HNRPLL		inserm.fr	GRCh37	2	38800570	38800570	+	splice_acceptor_variant	Splice_Site	SNP	C	G	G			CHC2127T																					ENST00000409636.1:c.860-1G>C		p.X287_splice	ENST00000409636				0	not done		damaging	
TM2D2		inserm.fr	GRCh37	8	38852968	38852968	+	intron_variant	Intron	SNP	T	G	G			CHC451T																					ENST00000456397.2:c.228-44A>C		*76*	ENST00000456397	NM_078473.2			0	validated			
DYRK1A		inserm.fr	GRCh37	21	38877758	38877758	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1185T																					ENST00000398960.2:c.1412A>G	p.Tyr471Cys	p.Y471C	ENST00000398960	NM_001396.3	471	tAt/tGt	0	not done		probablydamaging	
ADAM9		inserm.fr	GRCh37	8	38899569	38899569	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB231T																					ENST00000487273.2:c.1235A>G	p.Tyr412Cys	p.Y412C	ENST00000487273	NM_003816.2	412	tAt/tGt	0	validated		probablydamaging	
RYR1		inserm.fr	GRCh37	19	38946346	38946346	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1746T																					ENST00000359596.3:c.1746C>G	p.Ile582Met	p.I582M	ENST00000359596		582	atC/atG	0	not done		probablydamaging	
RYR1		inserm.fr	GRCh37	19	38951139	38951139	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1757T																					ENST00000359596.3:c.2485C>G	p.Arg829Gly	p.R829G	ENST00000359596		829	Cga/Gga	0	not done		possiblydamaging	
DNAH8		inserm.fr	GRCh37	6	38998051	38998051	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC794T																					ENST00000359357.3:c.13356T>G	p.Ile4452Met	p.I4452M	ENST00000359357		4452	atT/atG	0	validated		possiblydamaging	
KCNJ6		inserm.fr	GRCh37	21	39086738	39086738	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1603T																					ENST00000609713.1:c.722T>C	p.Leu241Ser	p.L241S	ENST00000609713	NM_002240.3	241	tTg/tCg	0	not done		probablydamaging	
GTPBP1		inserm.fr	GRCh37	22	39104939	39104939	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1148T																					ENST00000216044.5:c.282A>G	p.Ile94Met	p.I94M	ENST00000216044	NM_004286.4	94	atA/atG	0	not done		probablydamaging	
GTPBP1		inserm.fr	GRCh37	22	39111924	39111924	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC197T																					ENST00000216044.5:c.317A>G	p.Tyr106Cys	p.Y106C	ENST00000216044	NM_004286.4	106	tAt/tGt	0	validated		benign	
MORN2		inserm.fr	GRCh37	2	39117082	39117082	+	5_prime_UTR_variant	5'UTR	SNP	A	G	G			CHC1545T																					ENST00000409978.1:c.-204A>G		*68*	ENST00000409978				0	not done			
GTPBP1		inserm.fr	GRCh37	22	39117806	39117806	+	synonymous_variant	Silent	SNP	A	G	G			CHC1624T																					ENST00000216044.5:c.894A>G	p.Ala298=	p.A298=	ENST00000216044	NM_004286.4	298	gcA/gcG	0	validated		synonymous	
KRTAP1-5		inserm.fr	GRCh37	17	39183145	39183145	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1180T																					ENST00000361883.5:c.263T>C	p.Ile88Thr	p.I88T	ENST00000361883	NM_031957.1	88	aTc/aCc	0	validated		benign	
SOS1		inserm.fr	GRCh37	2	39262420	39262420	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1081T																					ENST00000402219.2:c.1007A>C	p.Gln336Pro	p.Q336P	ENST00000402219	NM_005633.3	336	cAa/cCa	0	validated		probablydamaging	
KRTAP4-11		inserm.fr	GRCh37	17	39273998	39273998	+	synonymous_variant	Silent	SNP	A	G	G			BCM423T																					ENST00000391413.2:c.570T>C	p.Cys190=	p.C190=	ENST00000391413	NM_033059.3	190	tgT/tgC	0	validated		synonymous	
KRTAP4-3		inserm.fr	GRCh37	17	39324229	39324229	+	synonymous_variant	Silent	SNP	T	G	G			CHC1010T																					ENST00000391356.2:c.196A>C	p.Arg66=	p.R66=	ENST00000391356	NM_033187.1	66	Agg/Cgg	0	not done		synonymous	
GJA9		inserm.fr	GRCh37	1	39341578	39341578	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC902T																					ENST00000357771.3:c.193T>C	p.Cys65Arg	p.C65R	ENST00000357771	NM_030772.4	65	Tgc/Cgc	0	not done		probablydamaging	
KRTAP9-2		inserm.fr	GRCh37	17	39382949	39382949	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC912T																					ENST00000377721.3:c.43A>G	p.Arg15Gly	p.R15G	ENST00000377721	NM_031961.2	15	Agg/Ggg	0	validated		benign	
FREM2		inserm.fr	GRCh37	13	39454721	39454721	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1591T																					ENST00000280481.7:c.9307A>G	p.Asn3103Asp	p.N3103D	ENST00000280481	NM_207361.4	3103	Aac/Gac	0	not done		benign	
SEC23A		inserm.fr	GRCh37	14	39502521	39502521	+	synonymous_variant	Silent	SNP	T	G	G			CHC1747T																					ENST00000307712.6:c.2220A>C	p.Ala740=	p.A740=	ENST00000307712	NM_006364.2	740	gcA/gcC	0	not done		synonymous	
KRT34		inserm.fr	GRCh37	17	39535836	39535836	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2127T																					ENST00000394001.1:c.862T>C	p.Trp288Arg	p.W288R	ENST00000394001	NM_021013.3	288	Tgg/Cgg	0	not done		probablydamaging	
MAP4K3		inserm.fr	GRCh37	2	39552770	39552770	+	splice_acceptor_variant	Splice_Site	SNP	C	G	G			CHC909T																					ENST00000263881.3:c.808-1G>C		p.X270_splice	ENST00000263881	NM_003618.3			0	not done		possiblydamaging	
YAE1D1		inserm.fr	GRCh37	7	39606079	39606079	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2200T																					ENST00000223273.2:c.62A>G	p.Asp21Gly	p.D21G	ENST00000223273	NM_020192.3	21	gAc/gGc	0	not done		probablydamaging	
KRT35		inserm.fr	GRCh37	17	39633770	39633770	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	G	G			CHC2216T																					ENST00000393989.1:c.1220A>C	p.Lys407Thr	p.K407T	ENST00000393989	NM_002280.4	407	aAg/aCg	0	validated		damaging	
YAE1D1		inserm.fr	GRCh37	7	39649568	39649568	+	non_coding_transcript_exon_variant	RNA	SNP	A	G	G			CHC2141T																					ENST00000446267.1:n.253A>G		*85*	ENST00000446267				0	not done			
AXIN1		inserm.fr	GRCh37	16	397014	397014	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1052T									Valid												ENST00000262320.3:c.12A>C	p.Gln4His	p.Q4H	ENST00000262320	NM_003502.3	4	caA/caC	0	validated		possiblydamaging	
KRT9		inserm.fr	GRCh37	17	39723589	39723589	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1154T																					ENST00000246662.4:c.1808G>C	p.Gly603Ala	p.G603A	ENST00000246662	NM_000226.3	603	gGt/gCt	0	not done		benign	
MACF1		inserm.fr	GRCh37	1	39750018	39750018	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM683T																					ENST00000545844.1:c.1064A>G	p.Gln355Arg	p.Q355R	ENST00000545844		355	cAa/cGa	0	validated		probablydamaging	
PLCG1		inserm.fr	GRCh37	20	39792091	39792091	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2034T																					ENST00000373272.2:c.863T>G	p.Ile288Ser	p.I288S	ENST00000373272	NM_002660.2	288	aTc/aGc	0	not done		benign	
GMFG		inserm.fr	GRCh37	19	39820183	39820183	+	splice_donor_variant	Splice_Site	SNP	C	G	G			CHC1035T									Valid												ENST00000597595.1:c.283+1G>C		p.X95_splice	ENST00000597595	NM_004877.2			0	validated		damaging	
GMFG		inserm.fr	GRCh37	19	39825944	39825944	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC197T									Valid												ENST00000597595.1:c.107T>C	p.Val36Ala	p.V36A	ENST00000597595	NM_004877.2	36	gTg/gCg	0	validated		possiblydamaging	
PDS5A		inserm.fr	GRCh37	4	39843664	39843664	+	synonymous_variant	Silent	SNP	T	G	G			CHC703T																					ENST00000303538.8:c.3561A>C	p.Ser1187=	p.S1187=	ENST00000303538	NM_001100399.1	1187	tcA/tcC	0	not done		synonymous	
MACF1		inserm.fr	GRCh37	1	39851370	39851370	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM567T																					ENST00000545844.1:c.7927C>G	p.Arg2643Gly	p.R2643G	ENST00000545844		2643	Cgg/Ggg	0	validated		possiblydamaging	
SAMD4B		inserm.fr	GRCh37	19	39868415	39868415	+	synonymous_variant	Silent	SNP	C	G	G			BCM695T																					ENST00000314471.6:c.1395C>G	p.Pro465=	p.P465=	ENST00000314471	NM_018028.2	465	ccC/ccG	0	validated		synonymous	
PDS5A		inserm.fr	GRCh37	4	39905765	39905765	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1720T																					ENST00000303538.8:c.1280A>C	p.Lys427Thr	p.K427T	ENST00000303538	NM_001100399.1	427	aAg/aCg	0	not done		probablydamaging	
BCOR		inserm.fr	GRCh37	X	39913552	39913552	+	synonymous_variant	Silent	SNP	A	G	G			BCB111T																					ENST00000378444.4:c.4776T>C	p.Asp1592=	p.D1592=	ENST00000378444	NM_001123385.1	1592	gaT/gaC	0	validated		synonymous	
PLEKHG2		inserm.fr	GRCh37	19	39914543	39914543	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T																					ENST00000409794.3:c.2770A>G	p.Lys924Glu	p.K924E	ENST00000409794	NM_022835.2	924	Aag/Gag	0	validated		benign	
BMP8A		inserm.fr	GRCh37	1	39957669	39957669	+	synonymous_variant	Silent	SNP	C	G	G			BCM269T																					ENST00000331593.5:c.6C>G	p.Ala2=	p.A2=	ENST00000331593	NM_181809.3	2	gcC/gcG	0	validated		synonymous	
PKP3		inserm.fr	GRCh37	11	400026	400026	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC451T									Valid												ENST00000331563.2:c.1333C>G	p.Leu445Val	p.L445V	ENST00000331563	NM_007183.2	445	Ctg/Gtg	0	validated		probablydamaging	
FSIP1		inserm.fr	GRCh37	15	40030344	40030344	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2127T																					ENST00000350221.3:c.839T>C	p.Val280Ala	p.V280A	ENST00000350221	NM_152597.4	280	gTt/gCt	0	not done		benign	
PABPC4		inserm.fr	GRCh37	1	40030976	40030976	+	synonymous_variant	Silent	SNP	T	G	G			CHC805T																					ENST00000372858.3:c.1047A>C	p.Ala349=	p.A349=	ENST00000372858	NM_001135653.1	349	gcA/gcC	0	not done		synonymous	
C12orf40		inserm.fr	GRCh37	12	40040163	40040163	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1041T																					ENST00000324616.5:c.235A>G	p.Asn79Asp	p.N79D	ENST00000324616	NM_001031748.2	79	Aat/Gat	0	validated		possiblydamaging	
CACNA1I		inserm.fr	GRCh37	22	40058155	40058155	+	synonymous_variant	Silent	SNP	C	G	G			CHC1739T																					ENST00000402142.3:c.3087C>G	p.Ala1029=	p.A1029=	ENST00000402142	NM_021096.3	1029	gcC/gcG	0	not done		synonymous	
N4BP2		inserm.fr	GRCh37	4	40122370	40122370	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC302T																					ENST00000261435.6:c.2639A>G	p.Asn880Ser	p.N880S	ENST00000261435	NM_018177.4	880	aAc/aGc	0	validated		benign	
N4BP2		inserm.fr	GRCh37	4	40122951	40122951	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC205T									Valid												ENST00000261435.6:c.3220A>G	p.Lys1074Glu	p.K1074E	ENST00000261435	NM_018177.4	1074	Aaa/Gaa	0	validated		probablydamaging	
ETS2		inserm.fr	GRCh37	21	40193543	40193543	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1545T																					ENST00000360214.3:c.1109T>G	p.Leu370Arg	p.L370R	ENST00000360214	NM_001256295.1	370	cTg/cGg	0	not done		probablydamaging	
BMP8B		inserm.fr	GRCh37	1	40226145	40226145	+	synonymous_variant	Silent	SNP	A	G	G			BCM791T																					ENST00000372827.3:c.1155T>C	p.Asn385=	p.N385=	ENST00000372827	NM_001720.3	385	aaT/aaC	0	validated		synonymous	
EIF2AK4		inserm.fr	GRCh37	15	40303484	40303484	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	G	G			CHC884T																					ENST00000263791.5:c.3696A>G	p.Thr1232=	p.T1232=	ENST00000263791	NM_001013703.2	1232	acA/acG	0	validated		synonymous	
PRPF4B		inserm.fr	GRCh37	6	4031816	4031816	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1742T																					ENST00000337659.6:c.65A>G	p.Lys22Arg	p.K22R	ENST00000337659	NM_003913.4	22	aAg/aGg	0	not done		probablydamaging	
EIF2AK4		inserm.fr	GRCh37	15	40324985	40324985	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC909T																					ENST00000263791.5:c.4756C>G	p.Gln1586Glu	p.Q1586E	ENST00000263791	NM_001013703.2	1586	Cag/Gag	0	not done		benign	
FBL		inserm.fr	GRCh37	19	40325202	40325202	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC902T																					ENST00000221801.3:c.942G>C	p.Arg314Ser	p.R314S	ENST00000221801	NM_001436.3	314	agG/agC	0	not done		damaging	
SRP14		inserm.fr	GRCh37	15	40328639	40328639	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM723T																					ENST00000267884.6:c.306A>C	p.Lys102Asn	p.K102N	ENST00000267884	NM_003134.4	102	aaA/aaC	0	validated		probablydamaging	
C7orf10		inserm.fr	GRCh37	7	40356378	40356378	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1079T																					ENST00000309930.5:c.761T>G	p.Ile254Arg	p.I254R	ENST00000309930	NM_024728.2	254	aTa/aGa	0	not done		probablydamaging	
FCGBP		inserm.fr	GRCh37	19	40364344	40364344	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC218T																					ENST00000221347.6:c.14298G>C	p.Glu4766Asp	p.E4766D	ENST00000221347	NM_003890.2	4766	gaG/gaC	0	validated		probablydamaging	
FCGBP		inserm.fr	GRCh37	19	40366095	40366095	+	synonymous_variant	Silent	SNP	A	G	G			CHC1753T																					ENST00000221347.6:c.14139T>C	p.Ala4713=	p.A4713=	ENST00000221347	NM_003890.2	4713	gcT/gcC	0	not done		synonymous	
SLC8A1		inserm.fr	GRCh37	2	40366760	40366760	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC614T									Valid												ENST00000403092.1:c.2326T>C	p.Tyr776His	p.Y776H	ENST00000403092		776	Tac/Cac	0	validated		probablydamaging	
PRPF4B		inserm.fr	GRCh37	6	4037731	4037731	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1611T																					ENST00000337659.6:c.1339A>G	p.Ile447Val	p.I447V	ENST00000337659	NM_003913.4	447	Att/Gtt	0	not done		benign	
LRFN2		inserm.fr	GRCh37	6	40400030	40400030	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC884T																					ENST00000338305.6:c.823T>C	p.Tyr275His	p.Y275H	ENST00000338305	NM_020737.1	275	Tac/Cac	0	validated		probablydamaging	
SLC8A1		inserm.fr	GRCh37	2	40405550	40405550	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1725T																					ENST00000403092.1:c.1892T>C	p.Leu631Pro	p.L631P	ENST00000403092		631	cTg/cCg	0	not done		possiblydamaging	
ATP6AP2		inserm.fr	GRCh37	X	40457973	40457973	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1629T																					ENST00000378438.4:c.575A>G	p.Asp192Gly	p.D192G	ENST00000378438	NM_005765.2	192	gAt/gGt	0	not done		probablydamaging	
BUB1B		inserm.fr	GRCh37	15	40462740	40462740	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC429T									Valid												ENST00000287598.6:c.242A>G	p.Tyr81Cys	p.Y81C	ENST00000287598	NM_001211.5	81	tAt/tGt	0	validated		probablydamaging	
PSMC4		inserm.fr	GRCh37	19	40486216	40486216	+	synonymous_variant	Silent	SNP	A	G	G			CHC1743T																					ENST00000157812.2:c.942A>G	p.Ala314=	p.A314=	ENST00000157812	NM_006503.3	314	gcA/gcG	0	not done		synonymous	
PRPF4B		inserm.fr	GRCh37	6	4056624	4056624	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB231T																					ENST00000337659.6:c.2536A>G	p.Ile846Val	p.I846V	ENST00000337659	NM_003913.4	846	Ata/Gta	0	validated		possiblydamaging	
BRWD1		inserm.fr	GRCh37	21	40571427	40571427	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1600T																					ENST00000333229.2:c.4915A>C	p.Lys1639Gln	p.K1639Q	ENST00000333229	NM_018963.4	1639	Aaa/Caa	0	not done		probablydamaging	
BRWD1		inserm.fr	GRCh37	21	40646392	40646392	+	synonymous_variant	Silent	SNP	T	G	G			CHC1053T																					ENST00000333229.2:c.1152A>C	p.Leu384=	p.L384=	ENST00000333229	NM_018963.4	384	ctA/ctC	0	validated		synonymous	
LRRK2		inserm.fr	GRCh37	12	40668448	40668448	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1592T																					ENST00000298910.7:c.1720C>G	p.Pro574Ala	p.P574A	ENST00000298910	NM_198578.3	574	Cct/Gct	0	not done		benign	
LRRK2		inserm.fr	GRCh37	12	40696648	40696648	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1725T																					ENST00000298910.7:c.3554T>G	p.Phe1185Cys	p.F1185C	ENST00000298910	NM_198578.3	1185	tTt/tGt	0	not done		probablydamaging	
RLF		inserm.fr	GRCh37	1	40704223	40704223	+	synonymous_variant	Silent	SNP	A	G	G			BCB111T																					ENST00000372771.4:c.3849A>G	p.Glu1283=	p.E1283=	ENST00000372771	NM_012421.3	1283	gaA/gaG	0	validated		synonymous	
FAM134C		inserm.fr	GRCh37	17	40734222	40734222	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1742T																					ENST00000309428.5:c.1010A>C	p.Asn337Thr	p.N337T	ENST00000309428	NM_178126.3	337	aAt/aCt	0	not done		possiblydamaging	
ADSL		inserm.fr	GRCh37	22	40760898	40760898	+	synonymous_variant	Silent	SNP	A	G	G			BCM723T																					ENST00000216194.7:c.1206A>G	p.Lys402=	p.K402=	ENST00000216194	NM_000026.2	402	aaA/aaG	0	validated		synonymous	
TUBG1		inserm.fr	GRCh37	17	40766940	40766940	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM275T																					ENST00000251413.3:c.1237A>G	p.Met413Val	p.M413V	ENST00000251413	NM_001070.4	413	Atg/Gtg	0	validated		benign	
TUBG2		inserm.fr	GRCh37	17	40815044	40815044	+	synonymous_variant	Silent	SNP	C	G	G			CHC1714T																					ENST00000251412.7:c.453C>G	p.Ser151=	p.S151=	ENST00000251412	NM_016437.2	151	tcC/tcG	0	not done		synonymous	
PLD3		inserm.fr	GRCh37	19	40877707	40877707	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC155T									Valid												ENST00000409587.1:c.806A>G	p.Tyr269Cys	p.Y269C	ENST00000409587		269	tAt/tGt	0	validated		possiblydamaging	
ZFP69B		inserm.fr	GRCh37	1	40922717	40922717	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1749T																					ENST00000411995.2:c.314A>G	p.Glu105Gly	p.E105G	ENST00000411995	NM_023070.2	105	gAg/gGg	0	not done		probablydamaging	
SERTAD3		inserm.fr	GRCh37	19	40947527	40947527	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM265T									Valid												ENST00000322354.3:c.461T>C	p.Ile154Thr	p.I154T	ENST00000322354	NM_203344.2	154	aTt/aCt	0	validated		possiblydamaging	
BECN1		inserm.fr	GRCh37	17	40963709	40963709	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2216T																					ENST00000361523.4:c.1148T>C	p.Val383Ala	p.V383A	ENST00000361523	NM_003766.3	383	gTt/gCt	0	not done		probablydamaging	
PSME3		inserm.fr	GRCh37	17	40986889	40986889	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2128T																					ENST00000293362.3:c.239A>G	p.Asp80Gly	p.D80G	ENST00000293362	NM_176863.2	80	gAt/gGt	0	not done		possiblydamaging	
USP9X		inserm.fr	GRCh37	X	41002563	41002563	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1626T																					ENST00000324545.8:c.1181A>G	p.Asn394Ser	p.N394S	ENST00000324545	NM_001039590.2	394	aAt/aGt	0	not done		benign	
MROH2B		inserm.fr	GRCh37	5	41004980	41004980	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1154T																					ENST00000399564.4:c.3907A>C	p.Asn1303His	p.N1303H	ENST00000399564	NM_173489.4	1303	Aat/Cat	0	not done		benign	
MROH2B		inserm.fr	GRCh37	5	41018834	41018834	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC320T									Valid												ENST00000399564.4:c.2632T>C	p.Trp878Arg	p.W878R	ENST00000399564	NM_173489.4	878	Tgg/Cgg	0	validated		probablydamaging	
MROH2B		inserm.fr	GRCh37	5	41019037	41019037	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC892T																					ENST00000399564.4:c.2525T>C	p.Leu842Pro	p.L842P	ENST00000399564	NM_173489.4	842	cTg/cCg	0	not done		probablydamaging	
USP9X		inserm.fr	GRCh37	X	41055929	41055929	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1603T																					ENST00000324545.8:c.4171A>G	p.Ile1391Val	p.I1391V	ENST00000324545	NM_001039590.2	1391	Att/Gtt	0	not done		benign	
MCHR1		inserm.fr	GRCh37	22	41077487	41077487	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC889T																					ENST00000249016.4:c.824A>G	p.Tyr275Cys	p.Y275C	ENST00000249016	NM_005297.3	275	tAc/tGc	0	not done		possiblydamaging	
TREML2		inserm.fr	GRCh37	6	41165921	41165921	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1717T																					ENST00000483722.1:c.302G>C	p.Gly101Ala	p.G101A	ENST00000483722	NM_024807.2	101	gGc/gCc	0	not done		probablydamaging	
SLC25A17		inserm.fr	GRCh37	22	41188623	41188623	+	synonymous_variant	Silent	SNP	A	G	G			CHC433T																					ENST00000435456.2:c.240T>C	p.Phe80=	p.F80=	ENST00000435456	NM_006358.2	80	ttT/ttC	0	validated		synonymous	
DDX3X		inserm.fr	GRCh37	X	41203024	41203024	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC432T																					ENST00000399959.2:c.714C>G	p.Ile238Met	p.I238M	ENST00000399959	NM_001193417.1	238	atC/atG	0	not done		possiblydamaging	
BRCA1		inserm.fr	GRCh37	17	41246399	41246399	+	synonymous_variant	Silent	SNP	A	G	G			CHC433T																					ENST00000357654.3:c.1149T>C	p.Asn383=	p.N383=	ENST00000357654	NM_007294.3	383	aaT/aaC	0	validated		synonymous	
SNRPA		inserm.fr	GRCh37	19	41265366	41265366	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2113T																					ENST00000243563.3:c.277A>G	p.Ile93Val	p.I93V	ENST00000243563	NM_004596.4	93	Atc/Gtc	0	not done		benign	
CTNNB1		inserm.fr	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1545T									Valid												ENST00000349496.5:c.95A>G	p.Asp32Gly	p.D32G	ENST00000349496	NM_001904.3	32	gAc/gGc	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1717T									Valid												ENST00000349496.5:c.95A>G	p.Asp32Gly	p.D32G	ENST00000349496	NM_001904.3	32	gAc/gGc	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T									Valid												ENST00000349496.5:c.95A>G	p.Asp32Gly	p.D32G	ENST00000349496	NM_001904.3	32	gAc/gGc	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266100	41266100	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC898T									Valid												ENST00000349496.5:c.97T>G	p.Ser33Ala	p.S33A	ENST00000349496	NM_001904.3	33	Tct/Gct	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC429T									Valid												ENST00000349496.5:c.98C>G	p.Ser33Cys	p.S33C	ENST00000349496	NM_001904.3	33	tCt/tGt	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC798T									Valid												ENST00000349496.5:c.98C>G	p.Ser33Cys	p.S33C	ENST00000349496	NM_001904.3	33	tCt/tGt	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC912T									Valid												ENST00000349496.5:c.98C>G	p.Ser33Cys	p.S33C	ENST00000349496	NM_001904.3	33	tCt/tGt	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266107	41266107	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC301T									Valid												ENST00000349496.5:c.104T>G	p.Ile35Ser	p.I35S	ENST00000349496	NM_001904.3	35	aTc/aGc	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266107	41266107	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC451T									Valid												ENST00000349496.5:c.104T>G	p.Ile35Ser	p.I35S	ENST00000349496	NM_001904.3	35	aTc/aGc	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266113	41266113	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC320T									Valid												ENST00000349496.5:c.110C>G	p.Ser37Cys	p.S37C	ENST00000349496	NM_001904.3	37	tCt/tGt	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266113	41266113	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC609T									Valid												ENST00000349496.5:c.110C>G	p.Ser37Cys	p.S37C	ENST00000349496	NM_001904.3	37	tCt/tGt	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC059T									Valid												ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	validated		possiblydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1081T									Valid												ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	validated		possiblydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1148T									Valid												ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	not done		possiblydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1183T									Valid												ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	not done		possiblydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1207T									Valid												ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	not done		possiblydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1751T									Valid												ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	not done		possiblydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2103T									Valid												ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	not done		possiblydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2216T									Valid												ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	not done		possiblydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC437T									Valid												ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	not done		possiblydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC510T									Valid												ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	validated		possiblydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM617T																					ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	validated		possiblydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T									Valid												ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	validated		possiblydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2034T									Valid												ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	not done		possiblydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266136	41266136	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC121T									Valid												ENST00000349496.5:c.133T>G	p.Ser45Ala	p.S45A	ENST00000349496	NM_001904.3	45	Tct/Gct	0	validated		possiblydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266137	41266137	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1044T									Valid												ENST00000349496.5:c.134C>G	p.Ser45Cys	p.S45C	ENST00000349496	NM_001904.3	45	tCt/tGt	0	not done		probablydamaging	
SNRPA		inserm.fr	GRCh37	19	41269537	41269537	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1209T																					ENST00000243563.3:c.646C>G	p.Pro216Ala	p.P216A	ENST00000243563	NM_004596.4	216	Cca/Gca	0	not done		probablydamaging	
INO80		inserm.fr	GRCh37	15	41289799	41289799	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC794T									Valid												ENST00000361937.3:c.3498G>C	p.Arg1166Ser	p.R1166S	ENST00000361937		1166	agG/agC	0	validated		probablydamaging	
BRCA1		inserm.fr	GRCh37	17	41291970	41291970	+	non_coding_transcript_exon_variant	RNA	SNP	C	G	G			CHC2115T																					ENST00000356906.3:n.598C>G		*200*	ENST00000356906				0	not done		synonymous	
NCR2		inserm.fr	GRCh37	6	41318577	41318577	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC798T																					ENST00000373089.5:c.806A>G	p.Asp269Gly	p.D269G	ENST00000373089	NM_004828.3	269	gAt/gGt	0	validated		benign	
NKX6-3		inserm.fr	GRCh37	8	41504141	41504141	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1154T																					ENST00000524115.2:c.235G>C	p.Ala79Pro	p.A79P	ENST00000524115	NM_152568.2	79	Gcc/Ccc	0	not done		probablydamaging	
EP300		inserm.fr	GRCh37	22	41525894	41525894	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	G	G			CHC1055T									Valid												ENST00000263253.7:c.1169T>G	p.Val390Gly	p.V390G	ENST00000263253	NM_001429.3	390	gTg/gGg	0	validated		probablydamaging	
EP300		inserm.fr	GRCh37	22	41527510	41527510	+	synonymous_variant	Silent	SNP	C	G	G			CHC1704T																					ENST00000263253.7:c.1401C>G	p.Ala467=	p.A467=	ENST00000263253	NM_001429.3	467	gcC/gcG	0	not done		synonymous	
ANK1		inserm.fr	GRCh37	8	41559648	41559648	+	synonymous_variant	Silent	SNP	A	G	G			CHC912T																					ENST00000265709.8:c.2409T>C	p.Pro803=	p.P803=	ENST00000265709	NM_001142446.1	803	ccT/ccC	0	validated		synonymous	
ANK1		inserm.fr	GRCh37	8	41571696	41571696	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1154T																					ENST00000265709.8:c.1877G>C	p.Gly626Ala	p.G626A	ENST00000265709	NM_001142446.1	626	gGc/gCc	0	not done		benign	
DHX8		inserm.fr	GRCh37	17	41594558	41594558	+	synonymous_variant	Silent	SNP	C	G	G			CHC306T																					ENST00000262415.3:c.2667C>G	p.Gly889=	p.G889=	ENST00000262415	NM_004941.1	889	ggC/ggG	0	validated		synonymous	
MDFI		inserm.fr	GRCh37	6	41617362	41617362	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC155T									Valid												ENST00000230321.6:c.265C>G	p.Pro89Ala	p.P89A	ENST00000230321	NM_005586.3	89	Cct/Gct	0	validated		probablydamaging	
L3MBTL2		inserm.fr	GRCh37	22	41626222	41626222	+	synonymous_variant	Silent	SNP	C	G	G			BCM723T																					ENST00000216237.5:c.2085C>G	p.Ser695=	p.S695=	ENST00000216237	NM_031488.4	695	tcC/tcG	0	validated		synonymous	
CYP2F1		inserm.fr	GRCh37	19	41628767	41628767	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC909T																					ENST00000331105.2:c.863T>G	p.Leu288Arg	p.L288R	ENST00000331105	NM_000774.3	288	cTg/cGg	0	not done		probablydamaging	
NUSAP1		inserm.fr	GRCh37	15	41634625	41634625	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2351T																					ENST00000559596.1:c.135T>G	p.His45Gln	p.H45Q	ENST00000559596		45	caT/caG	0	not done		benign	
RANGAP1		inserm.fr	GRCh37	22	41645419	41645419	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1720T																					ENST00000455915.2:c.1609G>C	p.Gly537Arg	p.G537R	ENST00000455915		537	Ggc/Cgc	0	not done		probablydamaging	
RTF1		inserm.fr	GRCh37	15	41709451	41709451	+	synonymous_variant	Silent	SNP	A	G	G			CHC2115T																					ENST00000389629.4:c.138A>G	p.Lys46=	p.K46=	ENST00000389629	NM_015138.4	46	aaA/aaG	0	validated		synonymous	
ZC3H7B		inserm.fr	GRCh37	22	41751805	41751805	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1539T																					ENST00000352645.4:c.2213A>G	p.Lys738Arg	p.K738R	ENST00000352645	NM_017590.5	738	aAg/aGg	0	validated		benign	
ZC3H7B		inserm.fr	GRCh37	22	41751977	41751977	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM371T																					ENST00000352645.4:c.2294A>G	p.Asn765Ser	p.N765S	ENST00000352645	NM_017590.5	765	aAc/aGc	0	validated		benign	
KBTBD7		inserm.fr	GRCh37	13	41767234	41767234	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC322T																					ENST00000379483.3:c.1160T>C	p.Val387Ala	p.V387A	ENST00000379483	NM_032138.4	387	gTc/gCc	0	validated		possiblydamaging	
HNRNPUL1		inserm.fr	GRCh37	19	41778119	41778119	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2103T																					ENST00000392006.3:c.551T>G	p.Phe184Cys	p.F184C	ENST00000392006	NM_007040.3	184	tTt/tGt	0	not done		probablydamaging	
LTK		inserm.fr	GRCh37	15	41799783	41799783	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC326T																					ENST00000263800.6:c.1322T>C	p.Met441Thr	p.M441T	ENST00000263800	NM_002344.5	441	aTg/aCg	0	validated		probablydamaging	
TGFB1		inserm.fr	GRCh37	19	41838086	41838086	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB157T																					ENST00000221930.5:c.961T>C	p.Phe321Leu	p.F321L	ENST00000221930	NM_000660.4	321	Ttc/Ctc	0	validated		probablydamaging	
MPP3		inserm.fr	GRCh37	17	41898301	41898301	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM501T																					ENST00000398389.4:c.810G>C	p.Trp270Cys	p.W270C	ENST00000398389	NM_001932.4	270	tgG/tgC	0	validated		probablydamaging	
NAA16		inserm.fr	GRCh37	13	41943340	41943340	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2098T																					ENST00000379406.3:c.1868A>G	p.Asn623Ser	p.N623S	ENST00000379406	NM_024561.4	623	aAt/aGt	0	not done		benign	
ULK4		inserm.fr	GRCh37	3	41949373	41949373	+	synonymous_variant	Silent	SNP	A	G	G			CHC889T																					ENST00000301831.4:c.1146T>C	p.Thr382=	p.T382=	ENST00000301831	NM_017886.2	382	acT/acC	0	not done		synonymous	
GLI3		inserm.fr	GRCh37	7	42012030	42012030	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2048T																					ENST00000395925.3:c.2009A>C	p.Gln670Pro	p.Q670P	ENST00000395925	NM_000168.5	670	cAg/cCg	0	not done		probablydamaging	
PLAT		inserm.fr	GRCh37	8	42033564	42033564	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC794T									Valid												ENST00000220809.4:c.1636T>C	p.Tyr546His	p.Y546H	ENST00000220809	NM_000930.3	546	Tac/Cac	0	validated		probablydamaging	
HIVEP3		inserm.fr	GRCh37	1	42041246	42041246	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1754T																					ENST00000372583.1:c.5176G>C	p.Glu1726Gln	p.E1726Q	ENST00000372583	NM_024503.4	1726	Gag/Cag	0	not done		probablydamaging	
MGA		inserm.fr	GRCh37	15	42042751	42042751	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC469T																					ENST00000219905.7:c.6946A>G	p.Ile2316Val	p.I2316V	ENST00000219905	NM_001164273.1	2316	Att/Gtt	0	validated		benign	
XRCC6		inserm.fr	GRCh37	22	42059694	42059694	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC909T																					ENST00000359308.4:c.1705A>G	p.Ser569Gly	p.S569G	ENST00000359308		569	Agc/Ggc	0	not done		benign	
SPTBN5		inserm.fr	GRCh37	15	42172363	42172363	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1745T																					ENST00000320955.6:c.2806T>C	p.Tyr936His	p.Y936H	ENST00000320955	NM_016642.3	936	Tat/Cat	0	not done		probablydamaging	
SPTBN5		inserm.fr	GRCh37	15	42185532	42185532	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2110Tbis																					ENST00000320955.6:c.164T>C	p.Met55Thr	p.M55T	ENST00000320955	NM_016642.3	55	aTg/aCg	0	not done		possiblydamaging	
TRERF1		inserm.fr	GRCh37	6	42224810	42224810	+	synonymous_variant	Silent	SNP	T	G	G			CHC1725T																					ENST00000372922.4:c.2367A>C	p.Ala789=	p.A789=	ENST00000372922	NM_033502.2	789	gcA/gcC	0	not done		synonymous	
VDAC3		inserm.fr	GRCh37	8	42259452	42259452	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC798T									Valid												ENST00000521158.1:c.473T>G	p.Phe158Cys	p.F158C	ENST00000521158		158	tTt/tGt	0	validated		probablydamaging	
TRAK1		inserm.fr	GRCh37	3	42265117	42265117	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1749T																					ENST00000327628.5:c.2750A>G	p.Asn917Ser	p.N917S	ENST00000327628	NM_001042646.2	917	aAt/aGt	0	not done		probablydamaging	
TRAK1		inserm.fr	GRCh37	3	42265198	42265198	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1624T																					ENST00000327628.5:c.2831C>G	p.Ala944Gly	p.A944G	ENST00000327628	NM_001042646.2	944	gCt/gGt	0	validated		benign	
PLA2G4E		inserm.fr	GRCh37	15	42287583	42287583	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC097T																					ENST00000399518.3:c.1222A>C	p.Ile408Leu	p.I408L	ENST00000399518	NM_001206670.1	408	Atc/Ctc	0	not done		benign	
PLA2G4E		inserm.fr	GRCh37	15	42298305	42298305	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC451T																					ENST00000399518.3:c.408G>C	p.Leu136Phe	p.L136F	ENST00000399518	NM_001206670.1	136	ttG/ttC	0	validated		possiblydamaging	
SLC4A1		inserm.fr	GRCh37	17	42335866	42335866	+	synonymous_variant	Silent	SNP	A	G	G			CHC2362T																					ENST00000262418.6:c.1002T>C	p.Ser334=	p.S334=	ENST00000262418	NM_000342.3	334	agT/agC	0	validated		synonymous	
PLA2G4E		inserm.fr	GRCh37	15	42342825	42342825	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2103T																					ENST00000399518.3:c.77A>C	p.Glu26Ala	p.E26A	ENST00000399518	NM_001206670.1	26	gAa/gCa	0	not done			
LYPD4		inserm.fr	GRCh37	19	42342993	42342993	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM375T																					ENST00000330743.3:c.173A>C	p.Gln58Pro	p.Q58P	ENST00000330743	NM_173506.4	58	cAa/cCa	0	validated		benign	
RABAC1		inserm.fr	GRCh37	19	42462515	42462515	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1137T																					ENST00000222008.6:c.290T>C	p.Leu97Pro	p.L97P	ENST00000222008	NM_006423.2	97	cTg/cCg	0	not done		probablydamaging	
RABAC1		inserm.fr	GRCh37	19	42462522	42462522	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1731T																					ENST00000222008.6:c.283A>C	p.Met95Leu	p.M95L	ENST00000222008	NM_006423.2	95	Atg/Ctg	0	not done		probablydamaging	
GPATCH8		inserm.fr	GRCh37	17	42475497	42475497	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1708T																					ENST00000591680.1:c.3948G>C	p.Glu1316Asp	p.E1316D	ENST00000591680	NM_001002909.2	1316	gaG/gaC	0	not done		probablydamaging	
GRIK5		inserm.fr	GRCh37	19	42546751	42546751	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC205T									Valid												ENST00000262895.3:c.1426G>C	p.Glu476Gln	p.E476Q	ENST00000262895	NM_002088.4	476	Gag/Cag	0	validated		probablydamaging	
ZNF574		inserm.fr	GRCh37	19	42583648	42583648	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB167T																					ENST00000600245.1:c.890A>G	p.Asn297Ser	p.N297S	ENST00000600245		297	aAc/aGc	0	validated		benign	
GANC		inserm.fr	GRCh37	15	42602648	42602648	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1192T																					ENST00000318010.8:c.890A>G	p.Glu297Gly	p.E297G	ENST00000318010	NM_198141.2	297	gAg/gGg	0	not done		benign	
CHRNA6		inserm.fr	GRCh37	8	42608388	42608388	+	synonymous_variant	Silent	SNP	A	G	G			CHC205T																					ENST00000276410.2:c.1419T>C	p.Ile473=	p.I473=	ENST00000276410	NM_004198.3	473	atT/atC	0	validated		synonymous	
BACE2		inserm.fr	GRCh37	21	42609549	42609549	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM783T																					ENST00000330333.6:c.511A>G	p.Thr171Ala	p.T171A	ENST00000330333	NM_012105.4	171	Act/Gct	0	validated		benign	
POU2F2		inserm.fr	GRCh37	19	42621077	42621077	+	intron_variant	Intron	SNP	C	G	G			CHC889T																					ENST00000526816.2:c.303+325G>C		*101*	ENST00000526816				0	not done			
GHR		inserm.fr	GRCh37	5	42629151	42629151	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC805T																					ENST00000230882.4:c.82A>G	p.Ile28Val	p.I28V	ENST00000230882	NM_001242406.2	28	Atc/Gtc	0	not done		benign	
GANC		inserm.fr	GRCh37	15	42644254	42644254	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM337T																					ENST00000318010.8:c.2662A>G	p.Thr888Ala	p.T888A	ENST00000318010	NM_198141.2	888	Acg/Gcg	0	validated		benign	
GHR		inserm.fr	GRCh37	5	42718732	42718732	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2043T																					ENST00000230882.4:c.1123A>G	p.Ser375Gly	p.S375G	ENST00000230882	NM_001242406.2	375	Agt/Ggt	0	not done		benign	
GHR		inserm.fr	GRCh37	5	42718904	42718904	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T																					ENST00000230882.4:c.1295A>G	p.Asn432Ser	p.N432S	ENST00000230882	NM_001242406.2	432	aAt/aGt	0	validated		benign	
ZNF526		inserm.fr	GRCh37	19	42730388	42730388	+	synonymous_variant	Silent	SNP	T	G	G			CHC433T																					ENST00000301215.3:c.1833T>G	p.Pro611=	p.P611=	ENST00000301215	NM_133444.1	611	ccT/ccG	0	validated		synonymous	
ZNF106		inserm.fr	GRCh37	15	42731968	42731968	+	synonymous_variant	Silent	SNP	A	G	G			CHC1052T																					ENST00000263805.4:c.3738T>C	p.Ala1246=	p.A1246=	ENST00000263805	NM_022473.1	1246	gcT/gcC	0	validated		synonymous	
GSK3A		inserm.fr	GRCh37	19	42738713	42738713	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000222330.3:c.784T>C	p.Cys262Arg	p.C262R	ENST00000222330	NM_019884.2	262	Tgc/Cgc	0	validated		probablydamaging	
DGKH		inserm.fr	GRCh37	13	42739508	42739508	+	synonymous_variant	Silent	SNP	A	G	G			CHC303T																					ENST00000337343.4:c.897A>G	p.Pro299=	p.P299=	ENST00000337343	NM_178009.3	299	ccA/ccG	0	validated		synonymous	
ZNF106		inserm.fr	GRCh37	15	42743629	42743629	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1209T																					ENST00000263805.4:c.772G>C	p.Asp258His	p.D258H	ENST00000263805	NM_022473.1	258	Gac/Cac	0	not done		probablydamaging	
LYAR		inserm.fr	GRCh37	4	4276373	4276373	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1714T																					ENST00000343470.4:c.553A>C	p.Lys185Gln	p.K185Q	ENST00000343470	NM_017816.2	185	Aag/Cag	0	not done		possiblydamaging	
DGKH		inserm.fr	GRCh37	13	42793439	42793439	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM703T																					ENST00000337343.4:c.3287C>G	p.Thr1096Arg	p.T1096R	ENST00000337343	NM_178009.3	1096	aCa/aGa	0	validated		benign	
GLTSCR1L		inserm.fr	GRCh37	6	42797772	42797772	+	synonymous_variant	Silent	SNP	A	G	G			CHC703T																					ENST00000314073.5:c.1701A>G	p.Thr567=	p.T567=	ENST00000314073		567	acA/acG	0	not done		synonymous	
PRR19		inserm.fr	GRCh37	19	42814058	42814058	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1700T																					ENST00000499536.2:c.322C>G	p.Pro108Ala	p.P108A	ENST00000499536		108	Cca/Gca	0	not done		probablydamaging	
GLTSCR1L		inserm.fr	GRCh37	6	42832985	42832985	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1209T																					ENST00000314073.5:c.3041T>G	p.Ile1014Ser	p.I1014S	ENST00000314073		1014	aTc/aGc	0	not done		possiblydamaging	
LRRC57		inserm.fr	GRCh37	15	42837281	42837281	+	synonymous_variant	Silent	SNP	A	G	G			CHC1763T																					ENST00000323443.2:c.672T>C	p.Tyr224=	p.Y224=	ENST00000323443		224	taT/taC	0	not done		synonymous	
LRRC57		inserm.fr	GRCh37	15	42837368	42837368	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC798T																					ENST00000323443.2:c.585G>C	p.Gln195His	p.Q195H	ENST00000323443		195	caG/caC	0	validated		benign	
MEGF8		inserm.fr	GRCh37	19	42841257	42841257	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC891T																					ENST00000334370.4:c.1412A>G	p.Tyr471Cys	p.Y471C	ENST00000334370	NM_001410.2	471	tAc/tGc	0	not done		probablydamaging	
RPL7L1		inserm.fr	GRCh37	6	42851238	42851238	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1749T																					ENST00000493763.1:c.170A>G	p.His57Arg	p.H57R	ENST00000493763	NM_198486.2	57	cAt/cGt	0	not done		benign	
ADAM11		inserm.fr	GRCh37	17	42852104	42852104	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC197T									Valid												ENST00000200557.6:c.1207A>G	p.Met403Val	p.M403V	ENST00000200557	NM_002390.4	403	Atg/Gtg	0	validated		probablydamaging	
AKAP11		inserm.fr	GRCh37	13	42876485	42876485	+	synonymous_variant	Silent	SNP	A	G	G			CHC097T																					ENST00000025301.2:c.3603A>G	p.Ala1201=	p.A1201=	ENST00000025301	NM_016248.3	1201	gcA/gcG	0	not done		synonymous	
TMPRSS2		inserm.fr	GRCh37	21	42879910	42879910	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC879T																					ENST00000398585.3:c.22G>C	p.Gly8Arg	p.G8R	ENST00000398585	NM_001135099.1	8	Ggt/Cgt	0	validated		benign	
CCBP2		inserm.fr	GRCh37	3	42906482	42906482	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC793T									Valid												ENST00000422265.1:c.488T>G	p.Leu163Arg	p.L163R	ENST00000422265	NM_001296.4	163	cTc/cGc	0	validated		probablydamaging	
EFTUD2		inserm.fr	GRCh37	17	42930996	42930996	+	synonymous_variant	Silent	SNP	C	G	G			BCB325T																					ENST00000426333.2:c.2355G>C	p.Arg785=	p.R785=	ENST00000426333	NM_001142605.1	785	cgG/cgC	0	validated		synonymous	
STARD9		inserm.fr	GRCh37	15	42977150	42977150	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1534T																					ENST00000290607.7:c.3374A>G	p.Lys1125Arg	p.K1125R	ENST00000290607	NM_020759.2	1125	aAg/aGg	0	validated			
POMK		inserm.fr	GRCh37	8	42977962	42977962	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1594T																					ENST00000331373.5:c.995A>G	p.Gln332Arg	p.Q332R	ENST00000331373	NM_032237.4	332	cAg/cGg	0	not done		benign	
MEA1		inserm.fr	GRCh37	6	42980891	42980891	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1746T																					ENST00000244711.3:c.265G>C	p.Asp89His	p.D89H	ENST00000244711	NM_014623.2	89	Gat/Cat	0	not done		possiblydamaging	
OXER1		inserm.fr	GRCh37	2	42990512	42990512	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1040T																					ENST00000378661.2:c.808T>C	p.Phe270Leu	p.F270L	ENST00000378661	NM_148962.4	270	Ttt/Ctt	0	not done		probablydamaging	
RRP36		inserm.fr	GRCh37	6	42992829	42992829	+	synonymous_variant	Silent	SNP	T	G	G			CHC303T																					ENST00000244496.5:c.237T>G	p.Ser79=	p.S79=	ENST00000244496	NM_033112.2	79	tcT/tcG	0	validated		synonymous	
HNF4A		inserm.fr	GRCh37	20	43048427	43048427	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2358T																					ENST00000316099.4:c.803T>G	p.Ile268Ser	p.I268S	ENST00000316099	NM_001258355.1	268	aTc/aGc	0	validated		probablydamaging	
CHL1		inserm.fr	GRCh37	3	430984	430984	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC303T																					ENST00000256509.2:c.2297C>G	p.Thr766Ser	p.T766S	ENST00000256509	NM_001253388.1	766	aCc/aGc	0	validated		benign	
TTBK2		inserm.fr	GRCh37	15	43102925	43102925	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1600T																					ENST00000267890.6:c.709T>C	p.Ser237Pro	p.S237P	ENST00000267890	NM_173500.3	237	Tct/Cct	0	not done		probablydamaging	
SRF		inserm.fr	GRCh37	6	43143609	43143609	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB109T																					ENST00000265354.4:c.946A>G	p.Ser316Gly	p.S316G	ENST00000265354	NM_003131.2	316	Agc/Ggc	0	validated		benign	
POTEA		inserm.fr	GRCh37	8	43152598	43152598	+	non_coding_transcript_exon_variant	RNA	SNP	A	G	G			CHC2110Tbis																					ENST00000519951.2:n.586A>G		*196*	ENST00000519951				0	not done		probablydamaging	
CUL9		inserm.fr	GRCh37	6	43164549	43164549	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC917T																					ENST00000252050.4:c.2752A>G	p.Met918Val	p.M918V	ENST00000252050	NM_015089.2	918	Atg/Gtg	0	validated		benign	
RIPK4		inserm.fr	GRCh37	21	43165970	43165970	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1596T																					ENST00000332512.3:c.885A>C	p.Lys295Asn	p.K295N	ENST00000332512	NM_020639.2	295	aaA/aaC	0	validated		benign	
ARFGAP3		inserm.fr	GRCh37	22	43213825	43213825	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC789T																					ENST00000263245.5:c.851T>C	p.Ile284Thr	p.I284T	ENST00000263245	NM_014570.4	284	aTt/aCt	0	not done		probablydamaging	
ZBTB49		inserm.fr	GRCh37	4	4322717	4322717	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC301T																					ENST00000337872.4:c.1972A>G	p.Met658Val	p.M658V	ENST00000337872	NM_145291.3	658	Atg/Gtg	0	validated		benign	
LEPRE1		inserm.fr	GRCh37	1	43228073	43228073	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC879T																					ENST00000236040.4:c.539A>C	p.Gln180Pro	p.Q180P	ENST00000236040	NM_001243246.1	180	cAg/cCg	0	not done		probablydamaging	
TTBK1		inserm.fr	GRCh37	6	43251799	43251799	+	synonymous_variant	Silent	SNP	A	G	G			BCM723T																					ENST00000259750.4:c.3321A>G	p.Ser1107=	p.S1107=	ENST00000259750	NM_032538.1	1107	tcA/tcG	0	validated		synonymous	
LOC100129924		inserm.fr	GRCh37	1	43260244	43260244	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1601T																					ENST00000421630.1:c.529C>G	p.Ile177Met	p.I177M	ENST00000421630	NM_001242750.1	177	atC/atG	0	not done			
CRIP3		inserm.fr	GRCh37	6	43273819	43273819	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1774T																					ENST00000372569.3:c.539T>C	p.Leu180Pro	p.L180P	ENST00000372569	NM_206922.2	180	cTg/cCg	0	validated		probablydamaging	
BMS1		inserm.fr	GRCh37	10	43292565	43292565	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM483T																					ENST00000374518.5:c.1873A>G	p.Ser625Gly	p.S625G	ENST00000374518	NM_014753.3	625	Agt/Ggt	0	validated		benign	
SLC14A1		inserm.fr	GRCh37	18	43311051	43311051	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1604T																					ENST00000436407.3:c.391C>G	p.Pro131Ala	p.P131A	ENST00000436407	NM_001146037.1	131	Ccc/Gcc	0	not done		possiblydamaging	
SPATA32		inserm.fr	GRCh37	17	43333145	43333145	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC793T																					ENST00000331780.4:c.404G>C	p.Ser135Thr	p.S135T	ENST00000331780	NM_152343.2	135	aGt/aCt	0	validated		possiblydamaging	
SNRK		inserm.fr	GRCh37	3	43344873	43344873	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC121T									Valid												ENST00000296088.7:c.178C>G	p.Leu60Val	p.L60V	ENST00000296088	NM_017719.4	60	Ctt/Gtt	0	validated		probablydamaging	
TMEM62		inserm.fr	GRCh37	15	43426123	43426123	+	synonymous_variant	Silent	SNP	C	G	G			CHC1566T																					ENST00000260403.2:c.123C>G	p.Pro41=	p.P41=	ENST00000260403	NM_024956.3	41	ccC/ccG	0	validated		synonymous	
TMEM62		inserm.fr	GRCh37	15	43426123	43426123	+	synonymous_variant	Silent	SNP	C	G	G			CHC793T																					ENST00000260403.2:c.123C>G	p.Pro41=	p.P41=	ENST00000260403	NM_024956.3	41	ccC/ccG	0	validated		synonymous	
ZFP36L2		inserm.fr	GRCh37	2	43451929	43451929	+	synonymous_variant	Silent	SNP	C	G	G			CHC1704T																					ENST00000282388.3:c.1014G>C	p.Gly338=	p.G338=	ENST00000282388	NM_006887.4	338	ggG/ggC	0	not done		synonymous	
TMEM62		inserm.fr	GRCh37	15	43476549	43476549	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1148T																					ENST00000260403.2:c.1697A>G	p.Gln566Arg	p.Q566R	ENST00000260403	NM_024956.3	566	cAa/cGa	0	not done		benign	
HECW1		inserm.fr	GRCh37	7	43495977	43495977	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1207T																					ENST00000395891.2:c.2582C>G	p.Thr861Arg	p.T861R	ENST00000395891	NM_015052.3	861	aCg/aGg	0	not done		possiblydamaging	
MAOA		inserm.fr	GRCh37	X	43591043	43591043	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC303T									Valid												ENST00000338702.3:c.898A>G	p.Met300Val	p.M300V	ENST00000338702	NM_000240.3	300	Atg/Gtg	0	validated		possiblydamaging	
LCMT2		inserm.fr	GRCh37	15	43621058	43621058	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1192T																					ENST00000305641.5:c.1630G>C	p.Gly544Arg	p.G544R	ENST00000305641	NM_014793.4	544	Ggg/Cgg	0	not done		probablydamaging	
LCMT2		inserm.fr	GRCh37	15	43622382	43622382	+	synonymous_variant	Silent	SNP	C	G	G			CHC1010T																					ENST00000305641.5:c.306G>C	p.Ala102=	p.A102=	ENST00000305641	NM_014793.4	102	gcG/gcC	0	not done		synonymous	
WDR65		inserm.fr	GRCh37	1	43647469	43647469	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1205T																					ENST00000528956.1:c.422A>G	p.Gln141Arg	p.Q141R	ENST00000528956	NM_152498.3	141	cAg/cGg	0	not done		benign	
STK17A		inserm.fr	GRCh37	7	43659224	43659224	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1712T																					ENST00000319357.5:c.593C>G	p.Ser198Cys	p.S198C	ENST00000319357	NM_004760.2	198	tCt/tGt	0	not done		benign	
NNT		inserm.fr	GRCh37	5	43659294	43659294	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1010T																					ENST00000264663.5:c.2476A>G	p.Ile826Val	p.I826V	ENST00000264663	NM_012343.3	826	Att/Gtt	0	not done		probablydamaging	
ABHD5		inserm.fr	GRCh37	3	43759311	43759311	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC432T																					ENST00000458276.2:c.922A>G	p.Ile308Val	p.I308V	ENST00000458276	NM_016006.4	308	Atc/Gtc	0	not done		benign	
TIE1		inserm.fr	GRCh37	1	43772885	43772885	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1534T																					ENST00000372476.3:c.713A>G	p.His238Arg	p.H238R	ENST00000372476	NM_005424.4	238	cAc/cGc	0	validated		possiblydamaging	
TIE1		inserm.fr	GRCh37	1	43779607	43779607	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM257T																					ENST00000372476.3:c.2377C>G	p.Arg793Gly	p.R793G	ENST00000372476	NM_005424.4	793	Cgg/Ggg	0	validated		possiblydamaging	
THADA		inserm.fr	GRCh37	2	43814037	43814037	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1591T																					ENST00000405006.4:c.407A>C	p.Lys136Thr	p.K136T	ENST00000405006	NM_001083953.1	136	aAa/aCa	0	not done		probablydamaging	
ADAMTS20		inserm.fr	GRCh37	12	43826149	43826149	+	synonymous_variant	Silent	SNP	A	G	G			CHC2200T																					ENST00000389420.3:c.3054T>C	p.Asn1018=	p.N1018=	ENST00000389420	NM_025003.3	1018	aaT/aaC	0	not done		synonymous	
OR52B4		inserm.fr	GRCh37	11	4389267	4389267	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC961T									Valid												ENST00000408920.2:c.259T>C	p.Phe87Leu	p.F87L	ENST00000408920	NM_001005161.3	87	Ttc/Ctc	0	validated		probablydamaging	
LOC728819		inserm.fr	GRCh37	2	43902817	43902817	+	non_coding_transcript_exon_variant	RNA	SNP	A	G	G			CHC1745T																					ENST00000542399.1:n.645T>C		*215*	ENST00000542399				0	not done		synonymous	
URGCP		inserm.fr	GRCh37	7	43917594	43917594	+	synonymous_variant	Silent	SNP	T	G	G			CHC433T																					ENST00000453200.1:c.1468A>C	p.Arg490=	p.R490=	ENST00000453200		490	Aga/Cga	0	validated		synonymous	
UBE2D4		inserm.fr	GRCh37	7	43966132	43966132	+	start_lost	Translation_Start_Site	SNP	A	G	G			BCM683T																					ENST00000222402.3:c.1A>G	p.Met1?	p.M1?	ENST00000222402	NM_015983.3	1	Atg/Gtg	0	validated		probablydamaging	
LINC03040		inserm.fr	GRCh37	6	43970421	43970421	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1732T																					ENST00000336600.5:c.287A>G	p.His96Arg	p.H96R	ENST00000336600	NM_001171992.1	96	cAc/cGc	0	validated		probablydamaging	
UBE2D4		inserm.fr	GRCh37	7	43988251	43988251	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2098T																					ENST00000222402.3:c.219T>G	p.Ile73Met	p.I73M	ENST00000222402	NM_015983.3	73	atT/atG	0	not done		possiblydamaging	
RNF165		inserm.fr	GRCh37	18	44030312	44030312	+	synonymous_variant	Silent	SNP	C	G	G			CHC1744T																					ENST00000269439.7:c.669C>G	p.Leu223=	p.L223=	ENST00000269439	NM_152470.2	223	ctC/ctG	0	not done		synonymous	
ABCG5		inserm.fr	GRCh37	2	44064988	44064988	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T									Valid												ENST00000260645.1:c.250A>C	p.Ile84Leu	p.I84L	ENST00000260645	NM_022436.2	84	Atc/Ctc	0	validated		probablydamaging	
ACCSL		inserm.fr	GRCh37	11	44077823	44077823	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2351T																					ENST00000378832.1:c.1274A>G	p.His425Arg	p.H425R	ENST00000378832	NM_001031854.2	425	cAc/cGc	0	not done		possiblydamaging	
LOXHD1		inserm.fr	GRCh37	18	44113182	44113182	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1545T																					ENST00000300591.6:c.985T>C	p.Tyr329His	p.Y329H	ENST00000300591	NM_001145472.2	329	Tac/Cac	0	not done		probablydamaging	
EXT2		inserm.fr	GRCh37	11	44129339	44129339	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000395673.3:c.176A>G	p.Tyr59Cys	p.Y59C	ENST00000395673	NM_000401.3	59	tAt/tGt	0	not done		probablydamaging	
KDM4A		inserm.fr	GRCh37	1	44134797	44134797	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2103T																					ENST00000372396.3:c.1190A>G	p.Lys397Arg	p.K397R	ENST00000372396	NM_014663.2	397	aAg/aGg	0	not done		probablydamaging	
PDE9A		inserm.fr	GRCh37	21	44153517	44153517	+	synonymous_variant	Silent	SNP	C	G	G			CHC1704T																					ENST00000291539.6:c.549C>G	p.Val183=	p.V183=	ENST00000291539	NM_002606.2	183	gtC/gtG	0	not done		synonymous	
POLD2		inserm.fr	GRCh37	7	44157324	44157324	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC889T																					ENST00000406581.2:c.360G>C	p.Gln120His	p.Q120H	ENST00000406581	NM_001256879.1	120	caG/caC	0	not done		probablydamaging	
PDE9A		inserm.fr	GRCh37	21	44174121	44174121	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1629T																					ENST00000291539.6:c.757A>G	p.Ile253Val	p.I253V	ENST00000291539	NM_002606.2	253	Atc/Gtc	0	not done		benign	
WFDC10A		inserm.fr	GRCh37	20	44258460	44258460	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1744T																					ENST00000372643.3:c.8C>G	p.Pro3Arg	p.P3R	ENST00000372643	NM_080753.2	3	cCc/cGc	0	not done		benign	
TOPAZ1		inserm.fr	GRCh37	3	44312215	44312215	+	synonymous_variant	Silent	SNP	A	G	G			BCM739T																					ENST00000309765.4:c.3285A>G	p.Lys1095=	p.K1095=	ENST00000309765	NM_001145030.1	1095	aaA/aaG	0	validated		synonymous	
TOPAZ1		inserm.fr	GRCh37	3	44323489	44323489	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM711T																					ENST00000309765.4:c.3402A>G	p.Ile1134Met	p.I1134M	ENST00000309765	NM_001145030.1	1134	atA/atG	0	validated		probablydamaging	
SPATS1		inserm.fr	GRCh37	6	44344152	44344152	+	synonymous_variant	Silent	SNP	T	G	G			CHC1534T																					ENST00000288390.2:c.816T>G	p.Val272=	p.V272=	ENST00000288390		272	gtT/gtG	0	validated		synonymous	
ZNF221		inserm.fr	GRCh37	19	44470692	44470692	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC121T																					ENST00000251269.5:c.1038C>G	p.Asn346Lys	p.N346K	ENST00000251269	NM_013359.2	346	aaC/aaG	0	validated		benign	
ZNF445		inserm.fr	GRCh37	3	44492894	44492894	+	synonymous_variant	Silent	SNP	A	G	G			CHC909T																					ENST00000425708.2:c.510T>C	p.Ala170=	p.A170=	ENST00000425708		170	gcT/gcC	0	not done		synonymous	
ZSWIM1		inserm.fr	GRCh37	20	44511309	44511309	+	synonymous_variant	Silent	SNP	C	G	G			CHC1185T																					ENST00000372523.1:c.78C>G	p.Pro26=	p.P26=	ENST00000372523	NM_080603.4	26	ccC/ccG	0	not done		synonymous	
ZNF230		inserm.fr	GRCh37	19	44515561	44515561	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1148T																					ENST00000429154.2:c.1370A>G	p.Tyr457Cys	p.Y457C	ENST00000429154	NM_006300.3	457	tAc/tGc	0	not done		probablydamaging	
TCEB3B		inserm.fr	GRCh37	18	44560361	44560361	+	synonymous_variant	Silent	SNP	A	G	G			CHC2029T																					ENST00000332567.4:c.1275T>C	p.Asp425=	p.D425=	ENST00000332567	NM_016427.2	425	gaT/gaC	0	not done		synonymous	
ZNF284		inserm.fr	GRCh37	19	44589881	44589881	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC796T									Valid												ENST00000421176.3:c.250A>G	p.Thr84Ala	p.T84A	ENST00000421176	NM_001037813.2	84	Act/Gct	0	validated		probablydamaging	
ZNF284		inserm.fr	GRCh37	19	44590755	44590755	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM375T																					ENST00000421176.3:c.1124T>G	p.Val375Gly	p.V375G	ENST00000421176	NM_001037813.2	375	gTa/gGa	0	validated		benign	
CRYAA		inserm.fr	GRCh37	21	44592179	44592179	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			BCM723T																					ENST00000291554.2:c.313-2A>G		p.X105_splice	ENST00000291554	NM_000394.2			0	validated		damaging	
ZNF226		inserm.fr	GRCh37	19	44681028	44681028	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1611T																					ENST00000590089.1:c.1613A>G	p.Lys538Arg	p.K538R	ENST00000590089		538	aAg/aGg	0	not done		probablydamaging	
ZNF35		inserm.fr	GRCh37	3	44692750	44692750	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC1592T																					ENST00000396056.2:c.191A>G	p.Lys64Arg	p.K64R	ENST00000396056	NM_003420.3	64	aAg/aGg	0	not done		damaging	
OGDH		inserm.fr	GRCh37	7	44735645	44735645	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM371T																					ENST00000222673.5:c.1690A>G	p.Lys564Glu	p.K564E	ENST00000222673	NM_002541.3	564	Aag/Gag	0	validated		benign	
KIAA1143		inserm.fr	GRCh37	3	44803075	44803075	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC798T									Valid												ENST00000296121.4:c.20T>C	p.Val7Ala	p.V7A	ENST00000296121	NM_020696.3	7	gTa/gCa	0	validated		probablydamaging	
NSF		inserm.fr	GRCh37	17	44833173	44833173	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM371T																					ENST00000398238.4:c.2219C>G	p.Pro740Arg	p.P740R	ENST00000398238	NM_006178.3	740	cCc/cGc	0	validated		benign	
FSCB		inserm.fr	GRCh37	14	44975246	44975246	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T									Valid												ENST00000340446.4:c.945A>C	p.Lys315Asn	p.K315N	ENST00000340446	NM_032135.3	315	aaA/aaC	0	validated		possiblydamaging	
ZNF180		inserm.fr	GRCh37	19	44981184	44981184	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1744T																					ENST00000221327.4:c.1514G>C	p.Ser505Thr	p.S505T	ENST00000221327	NM_013256.4	505	aGt/aCt	0	validated		probablydamaging	
ELMO2		inserm.fr	GRCh37	20	44999144	44999144	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC429T									Valid												ENST00000290246.6:c.1822G>C	p.Ala608Pro	p.A608P	ENST00000290246	NM_133171.3	608	Gcc/Ccc	0	not done		possiblydamaging	
CCM2		inserm.fr	GRCh37	7	45067373	45067373	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T									Valid												ENST00000381112.3:c.70A>G	p.Thr24Ala	p.T24A	ENST00000381112	NM_001029835.2	24	Aca/Gca	0	validated			
RRP1B		inserm.fr	GRCh37	21	45107410	45107410	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1747T																					ENST00000340648.4:c.1155T>G	p.Phe385Leu	p.F385L	ENST00000340648	NM_015056.2	385	ttT/ttG	0	not done		benign	
PLIN4		inserm.fr	GRCh37	19	4511575	4511575	+	synonymous_variant	Silent	SNP	C	G	G			CHC1736T																					ENST00000301286.3:c.2355G>C	p.Val785=	p.V785=	ENST00000301286	NM_001080400.1	785	gtG/gtC	0	not done		synonymous	
CEACAM16		inserm.fr	GRCh37	19	45211344	45211344	+	synonymous_variant	Silent	SNP	C	G	G			CHC1569T																					ENST00000587331.1:c.1152C>G	p.Pro384=	p.P384=	ENST00000587331	NM_001039213.2	384	ccC/ccG	0	not done		synonymous	
KIF2C		inserm.fr	GRCh37	1	45221840	45221840	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1148T																					ENST00000372224.4:c.908A>G	p.Tyr303Cys	p.Y303C	ENST00000372224	NM_006845.3	303	tAt/tGt	0	not done		probablydamaging	
CDC27		inserm.fr	GRCh37	17	45258971	45258971	+	synonymous_variant	Silent	SNP	A	G	G			CHC1756T																					ENST00000531206.1:c.60T>C	p.Ala20=	p.A20=	ENST00000531206		20	gcT/gcC	0	not done		synonymous	
CDC27		inserm.fr	GRCh37	17	45258971	45258971	+	synonymous_variant	Silent	SNP	A	G	G			CHC2211T																					ENST00000531206.1:c.60T>C	p.Ala20=	p.A20=	ENST00000531206		20	gcT/gcC	0	not done		synonymous	
CBLC		inserm.fr	GRCh37	19	45287640	45287640	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC155T																					ENST00000270279.3:c.899A>G	p.Glu300Gly	p.E300G	ENST00000270279	NM_012116.3	300	gAg/gGg	0	validated		probablydamaging	
ITGB3		inserm.fr	GRCh37	17	45384875	45384875	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCB325T																					ENST00000559488.1:c.2173T>G	p.Ser725Ala	p.S725A	ENST00000559488	NM_000212.2	725	Tca/Gca	0	validated		benign	
SMAD2		inserm.fr	GRCh37	18	45391473	45391473	+	synonymous_variant	Silent	SNP	A	G	G			CHC1568T																					ENST00000262160.6:c.687T>C	p.Asp229=	p.D229=	ENST00000262160	NM_005901.5	229	gaT/gaC	0	not done		synonymous	
DUOX2		inserm.fr	GRCh37	15	45394056	45394056	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC451T																					ENST00000603300.1:c.2786G>C	p.Arg929Pro	p.R929P	ENST00000603300	NM_014080.4	929	cGg/cCg	0	validated		probablydamaging	
AGPAT3		inserm.fr	GRCh37	21	45402266	45402266	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC909T																					ENST00000398063.2:c.1124A>G	p.Lys375Arg	p.K375R	ENST00000398063	NM_001037553.1	375	aAg/aGg	0	not done		benign	
UROD		inserm.fr	GRCh37	1	45478997	45478997	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC912T									Valid												ENST00000246337.4:c.247A>G	p.Ile83Val	p.I83V	ENST00000246337	NM_000374.4	83	Att/Gtt	0	validated		possiblydamaging	
PPP1R37		inserm.fr	GRCh37	19	45649135	45649135	+	synonymous_variant	Silent	SNP	C	G	G			BCM735T																					ENST00000221462.4:c.1821C>G	p.Ala607=	p.A607=	ENST00000221462	NM_019121.1	607	gcC/gcG	0	validated		synonymous	
FANCM		inserm.fr	GRCh37	14	45665451	45665451	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1601T																					ENST00000267430.5:c.5417A>G	p.His1806Arg	p.H1806R	ENST00000267430	NM_020937.2	1806	cAt/cGt	0	not done		possiblydamaging	
MIS18BP1		inserm.fr	GRCh37	14	45693892	45693892	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2362T																					ENST00000310806.4:c.1898T>C	p.Phe633Ser	p.F633S	ENST00000310806	NM_018353.4	633	tTc/tCc	0	validated		benign	
MIS18BP1		inserm.fr	GRCh37	14	45705112	45705112	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM711T																					ENST00000310806.4:c.1253T>C	p.Ile418Thr	p.I418T	ENST00000310806	NM_018353.4	418	aTt/aCt	0	validated		probablydamaging	
SPATA5L1		inserm.fr	GRCh37	15	45706845	45706845	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1569T																					ENST00000305560.6:c.1511A>G	p.Tyr504Cys	p.Y504C	ENST00000305560	NM_024063.2	504	tAt/tGt	0	not done		benign	
SACM1L		inserm.fr	GRCh37	3	45780317	45780317	+	synonymous_variant	Silent	SNP	A	G	G			CHC912T																					ENST00000389061.5:c.1521A>G	p.Leu507=	p.L507=	ENST00000389061	NM_014016.3	507	ttA/ttG	0	validated		synonymous	
TRPM2		inserm.fr	GRCh37	21	45784044	45784044	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1749T																					ENST00000397928.1:c.302A>G	p.Glu101Gly	p.E101G	ENST00000397928	NM_003307.3	101	gAg/gGg	0	not done		benign	
TRPM2		inserm.fr	GRCh37	21	45795869	45795869	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC703T																					ENST00000397928.1:c.925A>G	p.Ile309Val	p.I309V	ENST00000397928	NM_003307.3	309	Ata/Gta	0	validated		possiblydamaging	
ERCC2		inserm.fr	GRCh37	19	45855600	45855600	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCB109T									Valid												ENST00000391945.4:c.2057G>C	p.Arg686Pro	p.R686P	ENST00000391945	NM_000400.3	686	cGt/cCt	0	validated		probablydamaging	
OSBPL7		inserm.fr	GRCh37	17	45885902	45885902	+	splice_donor_variant	Splice_Site	SNP	A	G	G			CHC1207T																					ENST00000007414.3:c.2420+2T>C		p.X807_splice	ENST00000007414	NM_145798.2			0	not done		damaging	
ERCC1		inserm.fr	GRCh37	19	45922378	45922378	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1717T																					ENST00000013807.5:c.503T>C	p.Val168Ala	p.V168A	ENST00000013807	NM_202001.2	168	gTc/gCc	0	not done		probablydamaging	
KRTAP10-1		inserm.fr	GRCh37	21	45959535	45959535	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC796T																					ENST00000400375.1:c.499T>C	p.Ser167Pro	p.S167P	ENST00000400375	NM_198691.2	167	Tct/Cct	0	validated		probablydamaging	
KRTAP10-1		inserm.fr	GRCh37	21	45959974	45959974	+	synonymous_variant	Silent	SNP	A	G	G			CHC2211T																					ENST00000400375.1:c.60T>C	p.Asp20=	p.D20=	ENST00000400375	NM_198691.2	20	gaT/gaC	0	validated		synonymous	
SQRDL		inserm.fr	GRCh37	15	45968306	45968306	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1757T																					ENST00000260324.7:c.662A>G	p.Lys221Arg	p.K221R	ENST00000260324	NM_021199.3	221	aAg/aGg	0	not done		probablydamaging	
MMACHC		inserm.fr	GRCh37	1	45973908	45973908	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC609T																					ENST00000401061.4:c.301A>G	p.Ile101Val	p.I101V	ENST00000401061	NM_015506.2	101	Atc/Gtc	0	validated		benign	
VASP		inserm.fr	GRCh37	19	46020962	46020962	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1545T																					ENST00000245932.6:c.47A>G	p.Tyr16Cys	p.Y16C	ENST00000245932	NM_003370.3	16	tAt/tGt	0	not done		probablydamaging	
PNPO		inserm.fr	GRCh37	17	46023754	46023754	+	synonymous_variant	Silent	SNP	A	G	G			CHC1191T																					ENST00000225573.4:c.612A>G	p.Lys204=	p.K204=	ENST00000225573	NM_018129.3	204	aaA/aaG	0	not done		synonymous	
CDK5RAP3		inserm.fr	GRCh37	17	46056260	46056260	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCB307T									Valid												ENST00000338399.4:c.1054C>G	p.Gln352Glu	p.Q352E	ENST00000338399	NM_001278217.1	352	Cag/Gag	0	validated		probablydamaging	
NASP		inserm.fr	GRCh37	1	46073720	46073720	+	synonymous_variant	Silent	SNP	A	G	G			CHC097T																					ENST00000350030.3:c.1137A>G	p.Ala379=	p.A379=	ENST00000350030	NM_002482.3	379	gcA/gcG	0	not done		synonymous	
NASP		inserm.fr	GRCh37	1	46073720	46073720	+	synonymous_variant	Silent	SNP	A	G	G			CHC1185T																					ENST00000350030.3:c.1137A>G	p.Ala379=	p.A379=	ENST00000350030	NM_002482.3	379	gcA/gcG	0	not done		synonymous	
NASP		inserm.fr	GRCh37	1	46073720	46073720	+	synonymous_variant	Silent	SNP	A	G	G			CHC437T																					ENST00000350030.3:c.1137A>G	p.Ala379=	p.A379=	ENST00000350030	NM_002482.3	379	gcA/gcG	0	not done		synonymous	
NASP		inserm.fr	GRCh37	1	46073720	46073720	+	synonymous_variant	Silent	SNP	A	G	G			CHC902T																					ENST00000350030.3:c.1137A>G	p.Ala379=	p.A379=	ENST00000350030	NM_002482.3	379	gcA/gcG	0	not done		synonymous	
ATXN10		inserm.fr	GRCh37	22	46136332	46136332	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1714T																					ENST00000252934.5:c.1087A>G	p.Ile363Val	p.I363V	ENST00000252934	NM_013236.3	363	Atc/Gtc	0	not done		benign	
C16orf96		inserm.fr	GRCh37	16	4621596	4621596	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1545T																					ENST00000444310.4:c.455T>G	p.Leu152Arg	p.L152R	ENST00000444310	NM_001145011.1	152	cTt/cGt	0	not done		benign	
ARID2		inserm.fr	GRCh37	12	46231153	46231153	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1044T									Valid												ENST00000334344.6:c.1073C>G	p.Thr358Ser	p.T358S	ENST00000334344	NM_152641.2	358	aCt/aGt	0	not done		probablydamaging	
ARRB2		inserm.fr	GRCh37	17	4623914	4623914	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC121T									Valid												ENST00000412477.3:c.1178A>G	p.Asn393Ser	p.N393S	ENST00000412477		393	aAc/aGc	0	validated		possiblydamaging	
ARID2		inserm.fr	GRCh37	12	46243361	46243361	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC429T									Valid												ENST00000334344.6:c.1716-2A>G		p.X572_splice	ENST00000334344	NM_152641.2			0	validated		damaging	
ARID2		inserm.fr	GRCh37	12	46254582	46254582	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC796T									Valid												ENST00000334344.6:c.4774-2A>G		p.X1592_splice	ENST00000334344	NM_152641.2			0	validated		damaging	
NCOA3		inserm.fr	GRCh37	20	46264633	46264633	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC1616T																					ENST00000371998.3:c.1505-2A>G		p.X502_splice	ENST00000371998				0	not done		possiblydamaging	
PTTG1IP		inserm.fr	GRCh37	21	46271544	46271544	+	splice_acceptor_variant	Splice_Site	SNP	T	G	G			BCB151T																					ENST00000330938.3:c.497-2A>C		p.X166_splice	ENST00000330938	NM_004339.3			0	validated		damaging	
ARID2		inserm.fr	GRCh37	12	46285561	46285561	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC1180T																					ENST00000334344.6:c.4923-2A>G		p.X1641_splice	ENST00000334344	NM_152641.2			0	validated		damaging	
ARID2		inserm.fr	GRCh37	12	46287229	46287229	+	stop_gained	Nonsense_Mutation	SNP	C	G	G			CHC614T									Valid												ENST00000334344.6:c.5174C>G	p.Ser1725Ter	p.S1725*	ENST00000334344	NM_152641.2	1725	tCa/tGa	0	validated		damaging	
CCR3		inserm.fr	GRCh37	3	46307243	46307243	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC799T																					ENST00000545097.1:c.657C>G	p.Phe219Leu	p.F219L	ENST00000545097	NM_001164680.1	219	ttC/ttG	0	not done		probablydamaging	
SCAF11		inserm.fr	GRCh37	12	46316838	46316838	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2034T																					ENST00000369367.3:c.4006A>C	p.Ser1336Arg	p.S1336R	ENST00000369367	NM_004719.2	1336	Agt/Cgt	0	not done		possiblydamaging	
SYMPK		inserm.fr	GRCh37	19	46330834	46330834	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1743T																					ENST00000245934.7:c.2115G>C	p.Lys705Asn	p.K705N	ENST00000245934	NM_004819.2	705	aaG/aaC	0	not done		benign	
MED11		inserm.fr	GRCh37	17	4635144	4635144	+	synonymous_variant	Silent	SNP	C	G	G			CHC432T																					ENST00000293777.5:c.159C>G	p.Thr53=	p.T53=	ENST00000293777	NM_001001683.2	53	acC/acG	0	not done		synonymous	
MAST2		inserm.fr	GRCh37	1	46501345	46501345	+	synonymous_variant	Silent	SNP	A	G	G			CHC1749T																					ENST00000361297.2:c.5004A>G	p.Ala1668=	p.A1668=	ENST00000361297	NM_015112.2	1668	gcA/gcG	0	not done		synonymous	
MAST2		inserm.fr	GRCh37	1	46501537	46501537	+	synonymous_variant	Silent	SNP	A	G	G			CHC155T																					ENST00000361297.2:c.5196A>G	p.Ala1732=	p.A1732=	ENST00000361297	NM_015112.2	1732	gcA/gcG	0	validated		synonymous	
RAD51AP1		inserm.fr	GRCh37	12	4657900	4657900	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1531T																					ENST00000228843.9:c.505A>G	p.Lys169Glu	p.K169E	ENST00000228843	NM_001130862.1	169	Aaa/Gaa	0	not done		probablydamaging	
UBALD1		inserm.fr	GRCh37	16	4659850	4659850	+	synonymous_variant	Silent	SNP	T	G	G			CHC1604T																					ENST00000283474.7:c.318A>C	p.Ser106=	p.S106=	ENST00000283474	NM_145253.2	106	tcA/tcC	0	not done		synonymous	
IGFL3		inserm.fr	GRCh37	19	46627575	46627575	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1137T																					ENST00000341415.2:c.29T>C	p.Leu10Pro	p.L10P	ENST00000341415	NM_207393.1	10	cTt/cCt	0	not done		benign	
PPAPDC2		inserm.fr	GRCh37	9	4663263	4663263	+	stop_lost	Nonstop_Mutation	SNP	A	G	G			CHC1704T																					ENST00000381883.2:c.888A>G	p.Ter296TrpextTer18	p.*296Wext*18	ENST00000381883	NM_203453.3	296	tgA/tgG	0	not done			
TSPAN1		inserm.fr	GRCh37	1	46649984	46649984	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1209T																					ENST00000372003.1:c.179T>G	p.Leu60Arg	p.L60R	ENST00000372003	NM_005727.3	60	cTc/cGc	0	not done		probablydamaging	
GTSE1		inserm.fr	GRCh37	22	46708196	46708196	+	synonymous_variant	Silent	SNP	A	G	G			CHC429T																					ENST00000454366.1:c.921A>G	p.Pro307=	p.P307=	ENST00000454366	NM_016426.6	307	ccA/ccG	0	validated		synonymous	
LCP1		inserm.fr	GRCh37	13	46716485	46716485	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC923T																					ENST00000398576.2:c.1444G>C	p.Asp482His	p.D482H	ENST00000398576		482	Gat/Cat	0	not done		probablydamaging	
MYLK3		inserm.fr	GRCh37	16	46762984	46762984	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC801T																					ENST00000394809.4:c.1724T>C	p.Leu575Pro	p.L575P	ENST00000394809	NM_182493.2	575	cTc/cCc	0	not done		probablydamaging	
CKAP5		inserm.fr	GRCh37	11	46772912	46772912	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC798T									Valid												ENST00000529230.1:c.5306A>C	p.Lys1769Thr	p.K1769T	ENST00000529230		1769	aAa/aCa	0	validated		possiblydamaging	
DPP9		inserm.fr	GRCh37	19	4682716	4682716	+	synonymous_variant	Silent	SNP	C	G	G			CHC1611T																					ENST00000262960.9:c.2466G>C	p.Leu822=	p.L822=	ENST00000262960	NM_139159.4	822	ctG/ctC	0	not done		synonymous	
GPR116		inserm.fr	GRCh37	6	46832844	46832844	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC793T									Valid												ENST00000283296.7:c.1925G>C	p.Cys642Ser	p.C642S	ENST00000283296	NM_001098518.1	642	tGt/tCt	0	validated		possiblydamaging	
CDC37L1		inserm.fr	GRCh37	9	4697101	4697101	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1626T																					ENST00000381854.3:c.514T>G	p.Leu172Val	p.L172V	ENST00000381854	NM_017913.2	172	Ttg/Gtg	0	not done		benign	
GABRB1		inserm.fr	GRCh37	4	47163351	47163351	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC879T																					ENST00000295454.3:c.326A>G	p.Asp109Gly	p.D109G	ENST00000295454	NM_000812.3	109	gAc/gGc	0	not done		probablydamaging	
SETD2		inserm.fr	GRCh37	3	47164206	47164206	+	synonymous_variant	Silent	SNP	A	G	G			CHC1915T																					ENST00000409792.3:c.1920T>C	p.Phe640=	p.F640=	ENST00000409792	NM_014159.6	640	ttT/ttC	0	validated		synonymous	
TTC7A		inserm.fr	GRCh37	2	47177580	47177580	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1207T																					ENST00000319190.5:c.263C>G	p.Ser88Cys	p.S88C	ENST00000319190	NM_020458.2	88	tCc/tGc	0	not done		benign	
PACSIN3		inserm.fr	GRCh37	11	47202049	47202049	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000539589.1:c.404G>C	p.Gly135Ala	p.G135A	ENST00000539589	NM_001184975.1	135	gGc/gCc	0	not done		benign	
PREX1		inserm.fr	GRCh37	20	47269933	47269933	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2200T																					ENST00000371941.3:c.2312T>C	p.Phe771Ser	p.F771S	ENST00000371941	NM_020820.3	771	tTc/tCc	0	not done		probablydamaging	
MADD		inserm.fr	GRCh37	11	47297635	47297635	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM759T																					ENST00000311027.5:c.845T>G	p.Phe282Cys	p.F282C	ENST00000311027	NM_003682.3	282	tTt/tGt	0	validated		probablydamaging	
PCBP3		inserm.fr	GRCh37	21	47320913	47320913	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	G	G			BCB151T																					ENST00000400314.1:c.225T>G	p.Ser75Arg	p.S75R	ENST00000400314		75	agT/agG	0	validated		probablydamaging	
ACAA2		inserm.fr	GRCh37	18	47329216	47329216	+	synonymous_variant	Silent	SNP	A	G	G			CHC1531T																					ENST00000285093.10:c.24T>C	p.Phe8=	p.F8=	ENST00000285093	NM_006111.2	8	ttT/ttC	0	not done		synonymous	
MYBPC3		inserm.fr	GRCh37	11	47373030	47373030	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM545T									Valid												ENST00000545968.1:c.52T>C	p.Ser18Pro	p.S18P	ENST00000545968	NM_000256.3	18	Tca/Cca	0	validated		probablydamaging	
CYP4A11		inserm.fr	GRCh37	1	47398493	47398493	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1749T																					ENST00000310638.4:c.1304G>C	p.Arg435Pro	p.R435P	ENST00000310638	NM_000778.3	435	cGt/cCt	0	not done		possiblydamaging	
ARHGAP35		inserm.fr	GRCh37	19	47422907	47422907	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1044T																					ENST00000404338.3:c.975C>G	p.Ile325Met	p.I325M	ENST00000404338	NM_004491.4	325	atC/atG	0	not done		benign	
ARHGAP35		inserm.fr	GRCh37	19	47423850	47423850	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM739T																					ENST00000404338.3:c.1918A>G	p.Ile640Val	p.I640V	ENST00000404338	NM_004491.4	640	Ata/Gta	0	validated		probablydamaging	
SYN1		inserm.fr	GRCh37	X	47464380	47464380	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1739T																					ENST00000295987.7:c.771A>C	p.Glu257Asp	p.E257D	ENST00000295987	NM_006950.3	257	gaA/gaC	0	not done		benign	
CFP		inserm.fr	GRCh37	X	47485793	47485793	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1010T																					ENST00000247153.3:c.1066G>C	p.Asp356His	p.D356H	ENST00000247153	NM_002621.2	356	Gac/Cac	0	not done		possiblydamaging	
CYP4X1		inserm.fr	GRCh37	1	47504336	47504336	+	synonymous_variant	Silent	SNP	A	G	G			CHC1712T																					ENST00000371901.3:c.780A>G	p.Thr260=	p.T260=	ENST00000371901	NM_178033.1	260	acA/acG	0	not done		synonymous	
PHKB		inserm.fr	GRCh37	16	47545606	47545606	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2029T																					ENST00000323584.5:c.436A>G	p.Thr146Ala	p.T146A	ENST00000323584	NM_000293.2	146	Aca/Gca	0	not done		benign	
COL6A2		inserm.fr	GRCh37	21	47549155	47549155	+	intron_variant	Intron	SNP	C	G	G			CHC2052T																					ENST00000300527.4:c.2461+2700C>G		*821*	ENST00000300527	NM_001849.3			0	not done			
TMEM160		inserm.fr	GRCh37	19	47549402	47549402	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1624T																					ENST00000253047.6:c.410T>C	p.Val137Ala	p.V137A	ENST00000253047	NM_017854.1	137	gTg/gCg	0	validated		benign	
ARFGEF2		inserm.fr	GRCh37	20	47557754	47557754	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM791T																					ENST00000371917.4:c.140T>G	p.Ile47Arg	p.I47R	ENST00000371917	NM_006420.2	47	aTa/aGa	0	validated		benign	
MYO5B		inserm.fr	GRCh37	18	47566557	47566557	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1079T																					ENST00000285039.7:c.266T>C	p.Leu89Ser	p.L89S	ENST00000285039	NM_001080467.2	89	tTg/tCg	0	not done		probablydamaging	
ARFGEF2		inserm.fr	GRCh37	20	47570100	47570100	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC898T																					ENST00000371917.4:c.611A>G	p.Glu204Gly	p.E204G	ENST00000371917	NM_006420.2	204	gAg/gGg	0	not done		possiblydamaging	
CD2AP		inserm.fr	GRCh37	6	47580224	47580224	+	synonymous_variant	Silent	SNP	A	G	G			CHC1591T																					ENST00000359314.5:c.1830A>G	p.Lys610=	p.K610=	ENST00000359314	NM_012120.2	610	aaA/aaG	0	not done		synonymous	
ATP10D		inserm.fr	GRCh37	4	47584074	47584074	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB157T																					ENST00000273859.3:c.3746A>G	p.Lys1249Arg	p.K1249R	ENST00000273859	NM_020453.3	1249	aAg/aGg	0	validated		benign	
MCM3AP		inserm.fr	GRCh37	21	47660737	47660737	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM711T																					ENST00000397708.1:c.5621A>C	p.Glu1874Ala	p.E1874A	ENST00000397708		1874	gAa/gCa	0	validated		probablydamaging	
CSE1L		inserm.fr	GRCh37	20	47675045	47675045	+	synonymous_variant	Silent	SNP	A	G	G			CHC1041T																					ENST00000262982.2:c.45A>G	p.Leu15=	p.L15=	ENST00000262982	NM_001316.3	15	ttA/ttG	0	validated		synonymous	
SMARCC1		inserm.fr	GRCh37	3	47716995	47716995	+	synonymous_variant	Silent	SNP	A	G	G			CHC2216T																					ENST00000254480.5:c.1809T>C	p.Thr603=	p.T603=	ENST00000254480	NM_003074.3	603	acT/acC	0	not done		synonymous	
ANXA8L2		inserm.fr	GRCh37	10	47758889	47758889	+	synonymous_variant	Silent	SNP	C	G	G			CHC614T																					ENST00000374277.5:c.786C>G	p.Leu262=	p.L262=	ENST00000374277	NM_001630.2	262	ctC/ctG	0	validated		synonymous	
CCDC9		inserm.fr	GRCh37	19	47763581	47763581	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1763T																					ENST00000221922.6:c.112A>G	p.Ile38Val	p.I38V	ENST00000221922	NM_015603.2	38	Att/Gtt	0	not done		probablydamaging	
PCNT		inserm.fr	GRCh37	21	47851726	47851726	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB109T									Valid												ENST00000359568.5:c.8348A>G	p.Asp2783Gly	p.D2783G	ENST00000359568	NM_006031.5	2783	gAc/gGc	0	validated		possiblydamaging	
ZNFX1		inserm.fr	GRCh37	20	47864126	47864126	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM711T																					ENST00000396105.1:c.5435A>C	p.Lys1812Thr	p.K1812T	ENST00000396105	NM_021035.2	1812	aAg/aCg	0	validated		possiblydamaging	
NUP160		inserm.fr	GRCh37	11	47869901	47869901	+	synonymous_variant	Silent	SNP	A	G	G			CHC1743T																					ENST00000378460.2:c.72T>C	p.Cys24=	p.C24=	ENST00000378460	NM_015231.1	24	tgT/tgC	0	not done		synonymous	
DHX30		inserm.fr	GRCh37	3	47888279	47888279	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1209T																					ENST00000445061.1:c.1717A>G	p.Ile573Val	p.I573V	ENST00000445061	NM_138615.2	573	Atc/Gtc	0	not done		benign	
C16orf71		inserm.fr	GRCh37	16	4790593	4790593	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1061T																					ENST00000299320.5:c.716A>G	p.Glu239Gly	p.E239G	ENST00000299320	NM_139170.2	239	gAg/gGg	0	validated		probablydamaging	
CNGA1		inserm.fr	GRCh37	4	47938533	47938533	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T																					ENST00000402813.3:c.2185A>C	p.Thr729Pro	p.T729P	ENST00000402813		729	Acc/Ccc	0	validated		probablydamaging	
KPTN		inserm.fr	GRCh37	19	47986774	47986774	+	synonymous_variant	Silent	SNP	C	G	G			CHC433T																					ENST00000338134.3:c.294G>C	p.Gly98=	p.G98=	ENST00000338134	NM_007059.2	98	ggG/ggC	0	validated		synonymous	
ZNF500		inserm.fr	GRCh37	16	4802464	4802464	+	synonymous_variant	Silent	SNP	C	G	G			CHC1205T																					ENST00000219478.6:c.1356G>C	p.Leu452=	p.L452=	ENST00000219478		452	ctG/ctC	0	not done		synonymous	
MSH6		inserm.fr	GRCh37	2	48028190	48028190	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1531T																					ENST00000234420.5:c.3068A>G	p.Glu1023Gly	p.E1023G	ENST00000234420	NM_000179.2	1023	gAa/gGa	0	not done		benign	
PRMT2		inserm.fr	GRCh37	21	48068448	48068448	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1763T																					ENST00000397637.1:c.406C>G	p.Leu136Val	p.L136V	ENST00000397637		136	Ctg/Gtg	0	not done		probablydamaging	
PTPRJ		inserm.fr	GRCh37	11	48161309	48161309	+	synonymous_variant	Silent	SNP	C	G	G			CHC1055T																					ENST00000418331.2:c.2424C>G	p.Thr808=	p.T808=	ENST00000418331	NM_002843.3	808	acC/acG	0	validated		synonymous	
ABCC12		inserm.fr	GRCh37	16	48162571	48162571	+	synonymous_variant	Silent	SNP	A	G	G			CHC1545T																					ENST00000311303.3:c.1314T>C	p.Asn438=	p.N438=	ENST00000311303	NM_033226.2	438	aaT/aaC	0	not done		synonymous	
PTPRJ		inserm.fr	GRCh37	11	48168461	48168461	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM739T																					ENST00000418331.2:c.2945T>G	p.Phe982Cys	p.F982C	ENST00000418331	NM_002843.3	982	tTt/tGt	0	validated		probablydamaging	
TMEM106C		inserm.fr	GRCh37	12	48360509	48360509	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC891T																					ENST00000429772.2:c.596A>G	p.Tyr199Cys	p.Y199C	ENST00000429772	NM_001143842.1	199	tAt/tGt	0	not done		probablydamaging	
OR4C45		inserm.fr	GRCh37	11	48367499	48367499	+	non_coding_transcript_exon_variant	RNA	SNP	A	G	G			CHC2039Tbis																					ENST00000415304.1:n.338T>C		*113*	ENST00000415304				0	not done		benign	
COL2A1		inserm.fr	GRCh37	12	48377493	48377493	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2099T																					ENST00000380518.3:c.1968G>C	p.Gln656His	p.Q656H	ENST00000380518	NM_033150.2	656	caG/caC	0	not done		possiblydamaging	
GDF2		inserm.fr	GRCh37	10	48414362	48414362	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1754T																					ENST00000249598.1:c.506G>C	p.Ser169Thr	p.S169T	ENST00000249598	NM_016204.1	169	aGc/aCc	0	not done		benign	
MYEF2		inserm.fr	GRCh37	15	48444431	48444431	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC2127T																					ENST00000324324.7:c.1138G>C	p.Gly380Arg	p.G380R	ENST00000324324	NM_016132.3	380	Gga/Cga	0	not done		probablydamaging	
EME1		inserm.fr	GRCh37	17	48453434	48453434	+	synonymous_variant	Silent	SNP	A	G	G			CHC1611T																					ENST00000393271.2:c.783A>G	p.Leu261=	p.L261=	ENST00000393271	NM_001166131.1	261	ttA/ttG	0	not done		synonymous	
SLC10A4		inserm.fr	GRCh37	4	48490504	48490504	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM567T																					ENST00000273861.4:c.862T>G	p.Leu288Val	p.L288V	ENST00000273861	NM_152679.3	288	Tta/Gta	0	validated		probablydamaging	
ITPR1		inserm.fr	GRCh37	3	4856837	4856837	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1720T																					ENST00000302640.8:c.7757T>G	p.Phe2586Cys	p.F2586C	ENST00000302640	NM_001168272.1	2586	tTt/tGt	0	not done		probablydamaging	
FOXN2		inserm.fr	GRCh37	2	48573742	48573742	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1774T																					ENST00000340553.3:c.389A>G	p.Asn130Ser	p.N130S	ENST00000340553	NM_002158.3	130	aAt/aGt	0	validated		possiblydamaging	
SMAD4		inserm.fr	GRCh37	18	48581149	48581149	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC1629T																					ENST00000342988.3:c.455-2A>G		p.X152_splice	ENST00000342988	NM_005359.5			0	not done		possiblydamaging	
KIAA0146		inserm.fr	GRCh37	8	48625251	48625251	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM337T																					ENST00000297423.4:c.2005A>G	p.Arg669Gly	p.R669G	ENST00000297423	NM_001080394.2	669	Agg/Ggg	0	validated		possiblydamaging	
HDAC6		inserm.fr	GRCh37	X	48666452	48666452	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM399T									Valid												ENST00000334136.5:c.645T>G	p.His215Gln	p.H215Q	ENST00000334136		215	caT/caG	0	validated		probablydamaging	
CACNA1G		inserm.fr	GRCh37	17	48692854	48692854	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1742T																					ENST00000359106.5:c.4892A>G	p.Glu1631Gly	p.E1631G	ENST00000359106	NM_018896.4	1631	gAg/gGg	0	not done		probablydamaging	
FBN1		inserm.fr	GRCh37	15	48776017	48776017	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC2216T																					ENST00000316623.5:c.3836T>C	p.Val1279Ala	p.V1279A	ENST00000316623	NM_000138.4	1279	gTa/gCa	0	not done		probablydamaging	
CCDC114		inserm.fr	GRCh37	19	48800509	48800509	+	synonymous_variant	Silent	SNP	A	G	G			BCM723T																					ENST00000315396.7:c.1737T>C	p.Gly579=	p.G579=	ENST00000315396	NM_144577.3	579	ggT/ggC	0	validated		synonymous	
PRKDC		inserm.fr	GRCh37	8	48801592	48801592	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1603T																					ENST00000314191.2:c.4260G>C	p.Glu1420Asp	p.E1420D	ENST00000314191	NM_006904.6	1420	gaG/gaC	0	not done		possiblydamaging	
STON1		inserm.fr	GRCh37	2	48872191	48872191	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1052T									Valid												ENST00000394754.1:c.2435C>G	p.Ala812Gly	p.A812G	ENST00000394754	NM_172311.2	812	gCa/gGa	0	validated		possiblydamaging	
TFE3		inserm.fr	GRCh37	X	48896705	48896705	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1734T																					ENST00000315869.7:c.461T>C	p.Val154Ala	p.V154A	ENST00000315869	NM_006521.4	154	gTg/gCg	0	not done		benign	
CCDC120		inserm.fr	GRCh37	X	48922166	48922166	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2352T																					ENST00000422185.2:c.590T>G	p.Leu197Arg	p.L197R	ENST00000422185	NM_001163322.2	197	cTg/cGg	0	not done		probablydamaging	
RB1		inserm.fr	GRCh37	13	48947589	48947589	+	synonymous_variant	Silent	SNP	A	G	G			CHC884T																					ENST00000267163.4:c.1176A>G	p.Ala392=	p.A392=	ENST00000267163	NM_000321.2	392	gcA/gcG	0	validated		synonymous	
UBE2V2		inserm.fr	GRCh37	8	48962435	48962435	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1148T																					ENST00000523111.2:c.188A>G	p.Tyr63Cys	p.Y63C	ENST00000523111	NM_003350.2	63	tAt/tGt	0	not done		probablydamaging	
GPKOW		inserm.fr	GRCh37	X	48973518	48973518	+	splice_acceptor_variant	Splice_Site	SNP	T	G	G			CHC1629T																					ENST00000156109.5:c.781-2A>C		p.X261_splice	ENST00000156109	NM_015698.4			0	not done		possiblydamaging	
ARIH2		inserm.fr	GRCh37	3	49004597	49004597	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1566T																					ENST00000356401.4:c.427A>G	p.Met143Val	p.M143V	ENST00000356401	NM_006321.2	143	Atg/Gtg	0	not done		benign	
BEND5		inserm.fr	GRCh37	1	49208308	49208308	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1207T																					ENST00000371833.3:c.881T>C	p.Leu294Pro	p.L294P	ENST00000371833	NM_024603.2	294	cTa/cCa	0	not done		probablydamaging	
HSD17B14		inserm.fr	GRCh37	19	49316711	49316711	+	splice_donor_variant	Splice_Site	SNP	A	G	G			CHC2141T																					ENST00000263278.4:c.639+2T>C		p.X213_splice	ENST00000263278	NM_016246.2			0	not done		damaging	
PPL		inserm.fr	GRCh37	16	4933389	4933389	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC155T																					ENST00000345988.2:c.5267A>C	p.Lys1756Thr	p.K1756T	ENST00000345988	NM_002705.4	1756	aAg/aCg	0	validated		probablydamaging	
PPL		inserm.fr	GRCh37	16	4934049	4934049	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCB109T									Valid												ENST00000345988.2:c.4607A>C	p.Glu1536Ala	p.E1536A	ENST00000345988	NM_002705.4	1536	gAg/gCg	0	validated		possiblydamaging	
USP4		inserm.fr	GRCh37	3	49362134	49362134	+	splice_donor_variant	Splice_Site	SNP	C	G	G			BCM321T																					ENST00000265560.4:c.695+1G>C		p.X232_splice	ENST00000265560	NM_003363.3			0	validated		damaging	
MLL2		inserm.fr	GRCh37	12	49416479	49416479	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1148T																					ENST00000301067.7:c.16232T>C	p.Leu5411Pro	p.L5411P	ENST00000301067	NM_003482.3	5411	cTc/cCc	0	not done		probablydamaging	
PAGE1		inserm.fr	GRCh37	X	49454045	49454045	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1629T																					ENST00000376150.3:c.394G>C	p.Glu132Gln	p.E132Q	ENST00000376150	NM_003785.3	132	Gag/Cag	0	not done		probablydamaging	
GALK2		inserm.fr	GRCh37	15	49462568	49462568	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1732T																					ENST00000560031.1:c.49C>G	p.Pro17Ala	p.P17A	ENST00000560031		17	Cct/Gct	0	not done		benign	
PPL		inserm.fr	GRCh37	16	4949258	4949258	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC923T																					ENST00000345988.2:c.734A>C	p.Asn245Thr	p.N245T	ENST00000345988	NM_002705.4	245	aAc/aCc	0	not done		possiblydamaging	
GALK2		inserm.fr	GRCh37	15	49528110	49528110	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC429T									Valid												ENST00000560031.1:c.329A>G	p.Tyr110Cys	p.Y110C	ENST00000560031		110	tAt/tGt	0	validated		probablydamaging	
SNRNP70		inserm.fr	GRCh37	19	49593762	49593762	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB231T																					ENST00000598441.1:c.250A>G	p.Thr84Ala	p.T84A	ENST00000598441		84	Aca/Gca	0	validated		benign	
PPFIA3		inserm.fr	GRCh37	19	49639178	49639178	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC2103T																					ENST00000334186.4:c.1663A>G	p.Lys555Glu	p.K555E	ENST00000334186	NM_003660.3	555	Aag/Gag	0	not done		probablydamaging	
EMB		inserm.fr	GRCh37	5	49701557	49701557	+	splice_donor_variant	Splice_Site	SNP	A	G	G			CHC304T									Valid												ENST00000303221.5:c.600+2T>C		p.X200_splice	ENST00000303221	NM_198449.2			0	validated		damaging	
FNDC3A		inserm.fr	GRCh37	13	49705481	49705481	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2362T																					ENST00000492622.2:c.461A>G	p.Tyr154Cys	p.Y154C	ENST00000492622	NM_001079673.1	154	tAt/tGt	0	validated		probablydamaging	
CA10		inserm.fr	GRCh37	17	49731024	49731024	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM739T																					ENST00000451037.2:c.539T>C	p.Val180Ala	p.V180A	ENST00000451037	NM_020178.4	180	gTg/gCg	0	validated		benign	
RNF123		inserm.fr	GRCh37	3	49737708	49737708	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM783T																					ENST00000327697.6:c.1033A>G	p.Ile345Val	p.I345V	ENST00000327697	NM_022064.3	345	Atc/Gtc	0	validated		benign	
FNDC3A		inserm.fr	GRCh37	13	49752724	49752724	+	synonymous_variant	Silent	SNP	A	G	G			CHC1154T																					ENST00000492622.2:c.1551A>G	p.Lys517=	p.K517=	ENST00000492622	NM_001079673.1	517	aaA/aaG	0	not done		synonymous	
IP6K1		inserm.fr	GRCh37	3	49770340	49770340	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1065T									Valid												ENST00000321599.4:c.500T>C	p.Leu167Pro	p.L167P	ENST00000321599	NM_153273.3	167	cTa/cCa	0	validated		probablydamaging	
FNDC3A		inserm.fr	GRCh37	13	49777314	49777314	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1600T																					ENST00000492622.2:c.3176A>G	p.Asn1059Ser	p.N1059S	ENST00000492622	NM_001079673.1	1059	aAt/aGt	0	not done		probablydamaging	
CAB39L		inserm.fr	GRCh37	13	49885092	49885092	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC703T																					ENST00000355854.4:c.872T>C	p.Val291Ala	p.V291A	ENST00000355854	NM_030925.2	291	gTg/gCg	0	validated		benign	
SLC17A7		inserm.fr	GRCh37	19	49933937	49933937	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2208T																					ENST00000221485.3:c.1522T>C	p.Cys508Arg	p.C508R	ENST00000221485	NM_020309.3	508	Tgt/Cgt	0	not done		probablydamaging	
MON1A		inserm.fr	GRCh37	3	49947659	49947659	+	synonymous_variant	Silent	SNP	C	G	G			CHC2351T																					ENST00000296473.3:c.1563G>C	p.Leu521=	p.L521=	ENST00000296473	NM_032355.3	521	ctG/ctC	0	not done		synonymous	
ZFP3		inserm.fr	GRCh37	17	4994975	4994975	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC121T																					ENST00000318833.3:c.176T>G	p.Ile59Arg	p.I59R	ENST00000318833	NM_153018.2	59	aTa/aGa	0	validated		benign	
DEFB112		inserm.fr	GRCh37	6	50011434	50011434	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1743T																					ENST00000322246.4:c.196G>C	p.Asp66His	p.D66H	ENST00000322246	NM_001037498.1	66	Gat/Cat	0	not done		probablydamaging	
SETDB2		inserm.fr	GRCh37	13	50050818	50050818	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1611T																					ENST00000317257.8:c.548A>G	p.His183Arg	p.H183R	ENST00000317257	NM_031915.2	183	cAt/cGt	0	not done		possiblydamaging	
PHF11		inserm.fr	GRCh37	13	50097363	50097363	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1611T																					ENST00000378319.3:c.623A>G	p.His208Arg	p.H208R	ENST00000378319	NM_001040443.1	208	cAt/cGt	0	not done		benign	
BRD1		inserm.fr	GRCh37	22	50191582	50191582	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM531T									Valid												ENST00000216267.8:c.1969G>C	p.Asp657His	p.D657H	ENST00000216267	NM_014577.1	657	Gat/Cat	0	validated		probablydamaging	
GNAT1		inserm.fr	GRCh37	3	50232060	50232060	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000232461.3:c.835C>G	p.Leu279Val	p.L279V	ENST00000232461	NM_144499.2	279	Ctc/Gtc	0	not done		possiblydamaging	
KLHDC2		inserm.fr	GRCh37	14	50241286	50241286	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2098T																					ENST00000298307.5:c.241A>G	p.Ile81Val	p.I81V	ENST00000298307	NM_014315.2	81	Atc/Gtc	0	not done		benign	
AP2A1		inserm.fr	GRCh37	19	50285211	50285211	+	synonymous_variant	Silent	SNP	A	G	G			CHC805T																					ENST00000359032.5:c.144A>G	p.Lys48=	p.K48=	ENST00000359032	NM_014203.2	48	aaA/aaG	0	not done		synonymous	
ATP8B4		inserm.fr	GRCh37	15	50303105	50303105	+	synonymous_variant	Silent	SNP	A	G	G			BCB325T																					ENST00000284509.6:c.372T>C	p.Asn124=	p.N124=	ENST00000284509	NM_024837.3	124	aaT/aaC	0	validated		synonymous	
AKR1C2		inserm.fr	GRCh37	10	5032212	5032212	+	synonymous_variant	Silent	SNP	A	G	G			BCB109T																					ENST00000380753.4:c.948T>C	p.Asn316=	p.N316=	ENST00000380753	NM_205845.2	316	aaT/aaC	0	validated		synonymous	
ATP8B4		inserm.fr	GRCh37	15	50336834	50336834	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1749T																					ENST00000284509.6:c.257T>C	p.Leu86Pro	p.L86P	ENST00000284509	NM_024837.3	86	cTg/cCg	0	not done		probablydamaging	
SHROOM4		inserm.fr	GRCh37	X	50341442	50341442	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM483T									Valid												ENST00000376020.2:c.4036G>C	p.Gly1346Arg	p.G1346R	ENST00000376020	NM_020717.3	1346	Ggg/Cgg	0	validated		probablydamaging	
ZMYND10		inserm.fr	GRCh37	3	50379485	50379485	+	synonymous_variant	Silent	SNP	A	G	G			BCM229T																					ENST00000231749.3:c.960T>C	p.Thr320=	p.T320=	ENST00000231749	NM_015896.2	320	acT/acC	0	validated		synonymous	
AKR1C2		inserm.fr	GRCh37	10	5037962	5037962	+	synonymous_variant	Silent	SNP	A	G	G			CHC2029T																					ENST00000380753.4:c.666T>C	p.His222=	p.H222=	ENST00000380753	NM_205845.2	222	caT/caC	0	validated		synonymous	
TBC1D17		inserm.fr	GRCh37	19	50387805	50387805	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2034T																					ENST00000221543.5:c.1333A>G	p.Met445Val	p.M445V	ENST00000221543	NM_024682.2	445	Atg/Gtg	0	not done		probablydamaging	
SALL4		inserm.fr	GRCh37	20	50408821	50408821	+	synonymous_variant	Silent	SNP	A	G	G			CHC2052T																					ENST00000217086.4:c.201T>C	p.Arg67=	p.R67=	ENST00000217086	NM_020436.3	67	cgT/cgC	0	not done		synonymous	
AKR1C2		inserm.fr	GRCh37	10	5043795	5043795	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1137T																					ENST00000380753.4:c.163T>C	p.Tyr55His	p.Y55H	ENST00000380753	NM_205845.2	55	Tac/Cac	0	not done		probablydamaging	
SIGLEC16		inserm.fr	GRCh37	19	50473580	50473580	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	C	G	G			CHC1534T																					ENST00000602139.1:n.450C>G		p.X150_splice	ENST00000602139				0	validated			
SMARCD1		inserm.fr	GRCh37	12	50480560	50480560	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1743T																					ENST00000394963.4:c.430T>G	p.Ser144Ala	p.S144A	ENST00000394963	NM_003076.4	144	Tcc/Gcc	0	not done		benign	
USP6		inserm.fr	GRCh37	17	5050484	5050484	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1715T																					ENST00000574788.1:c.2426A>G	p.Gln809Arg	p.Q809R	ENST00000574788		809	cAa/cGa	0	not done		possiblydamaging	
ZNF473		inserm.fr	GRCh37	19	50550122	50550122	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2048T																					ENST00000595661.1:c.2422C>G	p.His808Asp	p.H808D	ENST00000595661		808	Cac/Gac	0	not done		probablydamaging	
KCNRG		inserm.fr	GRCh37	13	50590005	50590005	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM711T																					ENST00000312942.1:c.376T>G	p.Phe126Val	p.F126V	ENST00000312942	NM_173605.1	126	Ttt/Gtt	0	validated		probablydamaging	
TRABD		inserm.fr	GRCh37	22	50635960	50635960	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC121T									Valid												ENST00000303434.4:c.614C>G	p.Ser205Cys	p.S205C	ENST00000303434	NM_025204.2	205	tCc/tGc	0	validated		probablydamaging	
SELO		inserm.fr	GRCh37	22	50644794	50644794	+	synonymous_variant	Silent	SNP	A	G	G			CHC320T																					ENST00000380903.2:c.603A>G	p.Leu201=	p.L201=	ENST00000380903	NM_031454.1	201	ctA/ctG	0	validated		synonymous	
BMP15		inserm.fr	GRCh37	X	50658922	50658922	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1211T																					ENST00000252677.3:c.494C>G	p.Pro165Arg	p.P165R	ENST00000252677	NM_005448.2	165	cCt/cGt	0	not done		probablydamaging	
OR52J3		inserm.fr	GRCh37	11	5068089	5068089	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1186T																					ENST00000380370.1:c.334A>G	p.Met112Val	p.M112V	ENST00000380370	NM_001001916.2	112	Atg/Gtg	0	not done		probablydamaging	
NRXN1		inserm.fr	GRCh37	2	50765584	50765584	+	synonymous_variant	Silent	SNP	A	G	G			BCM739T																					ENST00000404971.1:c.2070T>C	p.Asp690=	p.D690=	ENST00000404971	NM_001135659.1	690	gaT/gaC	0	validated		synonymous	
L2HGDH		inserm.fr	GRCh37	14	50768817	50768817	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM617T									Valid												ENST00000267436.4:c.326A>C	p.Lys109Thr	p.K109T	ENST00000267436		109	aAa/aCa	0	validated		probablydamaging	
USP8		inserm.fr	GRCh37	15	50786350	50786350	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC361TA									Valid												ENST00000433963.1:c.2531A>G	p.Tyr844Cys	p.Y844C	ENST00000433963	NM_001128611.1	844	tAt/tGt	0	validated		benign	
CYLD		inserm.fr	GRCh37	16	50810105	50810105	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1182T																					ENST00000398568.2:c.929A>G	p.Glu310Gly	p.E310G	ENST00000398568	NM_001042412.1	310	gAa/gGa	0	not done		possiblydamaging	
LARP4		inserm.fr	GRCh37	12	50822761	50822761	+	synonymous_variant	Silent	SNP	A	G	G			CHC1739T																					ENST00000398473.2:c.210A>G	p.Val70=	p.V70=	ENST00000398473	NM_199188.2	70	gtA/gtG	0	not done		synonymous	
LARP4		inserm.fr	GRCh37	12	50847310	50847310	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2113T																					ENST00000398473.2:c.872A>G	p.Tyr291Cys	p.Y291C	ENST00000398473	NM_199188.2	291	tAt/tGt	0	not done		probablydamaging	
LARP4		inserm.fr	GRCh37	12	50869451	50869451	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1052T									Valid												ENST00000398473.2:c.1979C>G	p.Ser660Cys	p.S660C	ENST00000398473	NM_199188.2	660	tCc/tGc	0	validated		possiblydamaging	
PPP6R2		inserm.fr	GRCh37	22	50882353	50882353	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000395741.3:c.2560A>G	p.Thr854Ala	p.T854A	ENST00000395741		854	Act/Gct	0	validated		probablydamaging	
EMC10		inserm.fr	GRCh37	19	50983929	50983929	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC801T																					ENST00000334976.6:c.494C>G	p.Pro165Arg	p.P165R	ENST00000334976	NM_206538.2	165	cCc/cGc	0	not done		probablydamaging	
LRRC4B		inserm.fr	GRCh37	19	51020853	51020853	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1192T																					ENST00000599957.1:c.2117A>C	p.Glu706Ala	p.E706A	ENST00000599957		706	gAg/gCg	0	validated		probablydamaging	
RBAK		inserm.fr	GRCh37	7	5103707	5103707	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC097T																					ENST00000396912.1:c.620A>G	p.Tyr207Cys	p.Y207C	ENST00000396912	NM_021163.3	207	tAt/tGt	0	not done		probablydamaging	
DIP2B		inserm.fr	GRCh37	12	51065006	51065006	+	synonymous_variant	Silent	SNP	A	G	G			CHC1183T																					ENST00000301180.5:c.465A>G	p.Arg155=	p.R155=	ENST00000301180	NM_173602.2	155	agA/agG	0	not done		synonymous	
DIP2B		inserm.fr	GRCh37	12	51069139	51069139	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC432T																					ENST00000301180.5:c.824C>G	p.Thr275Arg	p.T275R	ENST00000301180	NM_173602.2	275	aCa/aGa	0	not done		possiblydamaging	
SHANK3		inserm.fr	GRCh37	22	51169387	51169387	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1700T																					ENST00000262795.3:c.4891T>G	p.Ser1631Ala	p.S1631A	ENST00000262795	NM_033517.1	1631	Tcc/Gcc	0	validated		probablydamaging	
SHANK1		inserm.fr	GRCh37	19	51170707	51170707	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000293441.1:c.4510G>C	p.Val1504Leu	p.V1504L	ENST00000293441	NM_016148.2	1504	Gtg/Ctg	0	not done		benign	
DOCK3		inserm.fr	GRCh37	3	51251558	51251558	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1207T																					ENST00000266037.9:c.1132A>G	p.Ile378Val	p.I378V	ENST00000266037	NM_004947.4	378	Atc/Gtc	0	not done		benign	
AP4E1		inserm.fr	GRCh37	15	51289543	51289543	+	synonymous_variant	Silent	SNP	C	G	G			CHC1602T																					ENST00000261842.5:c.2367C>G	p.Val789=	p.V789=	ENST00000261842	NM_001252127.1	789	gtC/gtG	0	not done		synonymous	
SNTG1		inserm.fr	GRCh37	8	51314890	51314890	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1044T																					ENST00000522124.1:c.148C>G	p.Pro50Ala	p.P50A	ENST00000522124	NM_018967.2	50	Cct/Gct	0	not done		possiblydamaging	
DOCK3		inserm.fr	GRCh37	3	51315088	51315088	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1186T																					ENST00000266037.9:c.2726A>G	p.Asp909Gly	p.D909G	ENST00000266037	NM_004947.4	909	gAc/gGc	0	not done		benign	
ABHD12B		inserm.fr	GRCh37	14	51368564	51368564	+	synonymous_variant	Silent	SNP	A	G	G			CHC902T																					ENST00000337334.2:c.798A>G	p.Pro266=	p.P266=	ENST00000337334	NM_001206673.1	266	ccA/ccG	0	not done		synonymous	
KDM4B		inserm.fr	GRCh37	19	5137646	5137646	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1745T																					ENST00000159111.4:c.2400C>G	p.Cys800Trp	p.C800W	ENST00000159111	NM_015015.2	800	tgC/tgG	0	not done		probablydamaging	
SLC11A2		inserm.fr	GRCh37	12	51390673	51390673	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2029T																					ENST00000394904.3:c.845T>C	p.Ile282Thr	p.I282T	ENST00000394904	NM_001174125.1	282	aTt/aCt	0	not done		benign	
KLK4		inserm.fr	GRCh37	19	51410260	51410260	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1041T									Valid												ENST00000324041.1:c.695G>C	p.Gly232Ala	p.G232A	ENST00000324041	NM_004917.3	232	gGc/gCc	0	validated		possiblydamaging	
KLK5		inserm.fr	GRCh37	19	51452254	51452254	+	synonymous_variant	Silent	SNP	A	G	G			BCM703T																					ENST00000336334.3:c.453T>C	p.Ser151=	p.S151=	ENST00000336334	NM_012427.4	151	tcT/tcC	0	validated		synonymous	
KLK13		inserm.fr	GRCh37	19	51559981	51559981	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1738T																					ENST00000595793.1:c.697T>C	p.Ser233Pro	p.S233P	ENST00000595793	NM_015596.1	233	Tcc/Ccc	0	not done		probablydamaging	
CTU1		inserm.fr	GRCh37	19	51602338	51602338	+	synonymous_variant	Silent	SNP	C	G	G			BCB111T																					ENST00000421832.2:c.567G>C	p.Ala189=	p.A189=	ENST00000421832	NM_145232.3	189	gcG/gcC	0	validated		synonymous	
SIGLEC17P		inserm.fr	GRCh37	19	51671452	51671452	+	non_coding_transcript_exon_variant	RNA	SNP	C	G	G			CHC1205T																					ENST00000341811.4:n.531C>G		*177*	ENST00000341811				0	not done		synonymous	
GALNT6		inserm.fr	GRCh37	12	51754582	51754582	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC302T																					ENST00000543196.2:c.1090T>C	p.Ser364Pro	p.S364P	ENST00000543196		364	Tcc/Ccc	0	validated		possiblydamaging	
STARD6		inserm.fr	GRCh37	18	51851064	51851064	+	stop_lost	Nonstop_Mutation	SNP	A	G	G			CHC1734T																					ENST00000581310.1:c.661T>C	p.Ter221ArgextTer6	p.*221Rext*6	ENST00000581310		221	Tga/Cga	0	not done			
C18orf54		inserm.fr	GRCh37	18	51888101	51888101	+	synonymous_variant	Silent	SNP	A	G	G			CHC1715T																					ENST00000300091.5:c.372A>G	p.Thr124=	p.T124=	ENST00000300091	NM_173529.4	124	acA/acG	0	not done		synonymous	
C18orf54		inserm.fr	GRCh37	18	51898859	51898859	+	synonymous_variant	Silent	SNP	A	G	G			CHC433T																					ENST00000300091.5:c.867A>G	p.Lys289=	p.K289=	ENST00000300091	NM_173529.4	289	aaA/aaG	0	validated		synonymous	
KIF2B		inserm.fr	GRCh37	17	51900693	51900693	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM543T																					ENST00000268919.4:c.299T>G	p.Leu100Arg	p.L100R	ENST00000268919	NM_032559.4	100	cTg/cGg	0	validated		benign	
ADAMTS16		inserm.fr	GRCh37	5	5191842	5191842	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2103T																					ENST00000274181.7:c.1252A>G	p.Thr418Ala	p.T418A	ENST00000274181	NM_139056.2	418	Acg/Gcg	0	not done		probablydamaging	
ADAMTS16		inserm.fr	GRCh37	5	5191878	5191878	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC218T																					ENST00000274181.7:c.1288A>G	p.Thr430Ala	p.T430A	ENST00000274181	NM_139056.2	430	Acc/Gcc	0	validated		probablydamaging	
INTS6		inserm.fr	GRCh37	13	51943247	51943247	+	synonymous_variant	Silent	SNP	A	G	G			CHC1700T																					ENST00000311234.4:c.2304T>C	p.Gly768=	p.G768=	ENST00000311234	NM_012141.2	768	ggT/ggC	0	not done		synonymous	
PARP3		inserm.fr	GRCh37	3	51978855	51978855	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1775T																					ENST00000398755.3:c.584C>G	p.Ala195Gly	p.A195G	ENST00000398755		195	gCc/gGc	0	validated		possiblydamaging	
PCBP4		inserm.fr	GRCh37	3	51993383	51993383	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC798T									Valid												ENST00000461554.1:c.636G>C	p.Glu212Asp	p.E212D	ENST00000461554	NM_001174100.1	212	gaG/gaC	0	validated		damaging	
ACY1		inserm.fr	GRCh37	3	52019872	52019872	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T																					ENST00000404366.2:c.269A>G	p.His90Arg	p.H90R	ENST00000404366	NM_000666.2	90	cAt/cGt	0	validated		probablydamaging	
SCN8A		inserm.fr	GRCh37	12	52056873	52056873	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1712T																					ENST00000354534.6:c.272A>G	p.Gln91Arg	p.Q91R	ENST00000354534	NM_014191.3	91	cAg/cGg	0	not done		benign	
PIGG		inserm.fr	GRCh37	4	520836	520836	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1741T																					ENST00000453061.2:c.2078A>G	p.His693Arg	p.H693R	ENST00000453061	NM_001127178.1	693	cAc/cGc	0	not done		probablydamaging	
CCDC77		inserm.fr	GRCh37	12	521063	521063	+	synonymous_variant	Silent	SNP	A	G	G			CHC1738T																					ENST00000239830.4:c.189A>G	p.Gln63=	p.Q63=	ENST00000239830	NM_032358.3	63	caA/caG	0	not done		synonymous	
SCN8A		inserm.fr	GRCh37	12	52115501	52115501	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2200T																					ENST00000354534.6:c.1807A>G	p.Ile603Val	p.I603V	ENST00000354534	NM_014191.3	603	Atc/Gtc	0	not done		benign	
ITGA1		inserm.fr	GRCh37	5	52177754	52177754	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1738T																					ENST00000282588.6:c.674A>G	p.Asn225Ser	p.N225S	ENST00000282588	NM_181501.1	225	aAt/aGt	0	not done		benign	
TMOD3		inserm.fr	GRCh37	15	52179889	52179889	+	synonymous_variant	Silent	SNP	A	G	G			CHC2043T																					ENST00000308580.7:c.387A>G	p.Thr129=	p.T129=	ENST00000308580	NM_014547.4	129	acA/acG	0	not done		synonymous	
ITGA1		inserm.fr	GRCh37	5	52201725	52201725	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1717T																					ENST00000282588.6:c.1442T>G	p.Leu481Arg	p.L481R	ENST00000282588	NM_181501.1	481	cTc/cGc	0	not done		possiblydamaging	
FIGNL2		inserm.fr	GRCh37	12	52215016	52215016	+	non_coding_transcript_exon_variant	RNA	SNP	C	G	G			BCB301T																					ENST00000564840.1:n.1184G>C		*395*	ENST00000564840				0	validated		synonymous	
HAS1		inserm.fr	GRCh37	19	52216759	52216759	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM783T																					ENST00000222115.1:c.1658T>C	p.Val553Ala	p.V553A	ENST00000222115	NM_001523.2	553	gTg/gCg	0	validated		benign	
OSBPL9		inserm.fr	GRCh37	1	52249993	52249993	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1763T																					ENST00000447887.1:c.1712A>G	p.Tyr571Cys	p.Y571C	ENST00000447887		571	tAt/tGt	0	not done		probablydamaging	
OSBPL9		inserm.fr	GRCh37	1	52250172	52250172	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1611T																					ENST00000447887.1:c.1777A>G	p.Lys593Glu	p.K593E	ENST00000447887		593	Aaa/Gaa	0	not done		possiblydamaging	
FPR3		inserm.fr	GRCh37	19	52327238	52327238	+	synonymous_variant	Silent	SNP	A	G	G			CHC1010T																					ENST00000339223.4:c.237A>G	p.Pro79=	p.P79=	ENST00000339223	NM_002030.3	79	ccA/ccG	0	not done		synonymous	
PXDNL		inserm.fr	GRCh37	8	52366280	52366280	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1602T																					ENST00000356297.4:c.1048G>C	p.Glu350Gln	p.E350Q	ENST00000356297	NM_144651.4	350	Gaa/Caa	0	not done		possiblydamaging	
BAP1		inserm.fr	GRCh37	3	52443591	52443591	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM375T									Valid												ENST00000460680.1:c.101A>C	p.Asp34Ala	p.D34A	ENST00000460680	NM_004656.3	34	gAc/gCc	0	validated		probablydamaging	
ZNF613		inserm.fr	GRCh37	19	52448414	52448414	+	synonymous_variant	Silent	SNP	A	G	G			BCM325T																					ENST00000293471.6:c.1278A>G	p.Lys426=	p.K426=	ENST00000293471	NM_001031721.3	426	aaA/aaG	0	validated		synonymous	
C12orf44		inserm.fr	GRCh37	12	52467495	52467495	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2215T																					ENST00000336854.4:c.61A>G	p.Met21Val	p.M21V	ENST00000336854	NM_021934.4	21	Atg/Gtg	0	not done		benign	
SEMA3G		inserm.fr	GRCh37	3	52474415	52474415	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM689T									Valid												ENST00000231721.2:c.1121T>C	p.Val374Ala	p.V374A	ENST00000231721	NM_020163.1	374	gTg/gCg	0	validated		probablydamaging	
HBB		inserm.fr	GRCh37	11	5247999	5247999	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1598T																					ENST00000335295.4:c.123G>C	p.Arg41Ser	p.R41S	ENST00000335295	NM_000518.4	41	agG/agC	0	not done		probablydamaging	
MYO5C		inserm.fr	GRCh37	15	52521391	52521391	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1201T																					ENST00000261839.7:c.3146G>C	p.Gly1049Ala	p.G1049A	ENST00000261839	NM_018728.3	1049	gGg/gCg	0	not done		benign	
ZNF432		inserm.fr	GRCh37	19	52537106	52537106	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC451T																					ENST00000594154.1:c.1826A>C	p.Lys609Thr	p.K609T	ENST00000594154		609	aAg/aCg	0	validated		probablydamaging	
STAB1		inserm.fr	GRCh37	3	52548460	52548460	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1568T																					ENST00000321725.6:c.3626A>G	p.Asn1209Ser	p.N1209S	ENST00000321725	NM_015136.2	1209	aAc/aGc	0	not done		possiblydamaging	
ZNF841		inserm.fr	GRCh37	19	52568392	52568392	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC465T									Valid												ENST00000389534.4:c.2743G>C	p.Asp915His	p.D915H	ENST00000389534	NM_001136499.1	915	Gat/Cat	0	validated		possiblydamaging	
EDEM1		inserm.fr	GRCh37	3	5257566	5257566	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM545T																					ENST00000256497.4:c.1937A>G	p.Tyr646Cys	p.Y646C	ENST00000256497	NM_014674.2	646	tAc/tGc	0	validated		probablydamaging	
WIPI2		inserm.fr	GRCh37	7	5270467	5270467	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	G	G			CHC1915T									Valid												ENST00000288828.4:c.1254C>G	p.Ala418=	p.A418=	ENST00000288828	NM_001278299.1	418	gcC/gcG	0	validated		damaging	
ZFYVE9		inserm.fr	GRCh37	1	52705017	52705017	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1743T																					ENST00000287727.3:c.1928A>G	p.Asp643Gly	p.D643G	ENST00000287727	NM_004799.3	643	gAt/gGt	0	not done		benign	
GSTA5		inserm.fr	GRCh37	6	52705589	52705589	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1747T																					ENST00000370989.2:c.23A>C	p.His8Pro	p.H8P	ENST00000370989		8	cAc/cCc	0	not done		probablydamaging	
NEK4		inserm.fr	GRCh37	3	52777375	52777375	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC434T																					ENST00000233027.5:c.1997T>C	p.Val666Ala	p.V666A	ENST00000233027	NM_001193533.1	666	gTc/gCc	0	validated		benign	
ITIH1		inserm.fr	GRCh37	3	52812391	52812391	+	synonymous_variant	Silent	SNP	C	G	G			BCM257T																					ENST00000273283.2:c.174C>G	p.Val58=	p.V58=	ENST00000273283	NM_002215.3	58	gtC/gtG	0	validated		synonymous	
KRT75		inserm.fr	GRCh37	12	52818312	52818312	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1596T																					ENST00000252245.5:c.1645T>C	p.Tyr549His	p.Y549H	ENST00000252245	NM_004693.2	549	Tac/Cac	0	validated		probablydamaging	
ITIH3		inserm.fr	GRCh37	3	52835047	52835047	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1207T																					ENST00000449956.2:c.1268A>G	p.Tyr423Cys	p.Y423C	ENST00000449956	NM_002217.3	423	tAt/tGt	0	not done		probablydamaging	
ITIH3		inserm.fr	GRCh37	3	52840354	52840354	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM257T																					ENST00000449956.2:c.1988A>G	p.Asp663Gly	p.D663G	ENST00000449956	NM_002217.3	663	gAt/gGt	0	validated		possiblydamaging	
LRRC66		inserm.fr	GRCh37	4	52860703	52860703	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCB111T									Valid												ENST00000343457.3:c.2485G>C	p.Ala829Pro	p.A829P	ENST00000343457	NM_001024611.1	829	Gct/Cct	0	validated		probablydamaging	
ZNF610		inserm.fr	GRCh37	19	52869830	52869830	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC301T									Valid												ENST00000403906.3:c.1199A>G	p.Tyr400Cys	p.Y400C	ENST00000403906	NM_001161425.1	400	tAc/tGc	0	validated		probablydamaging	
ATOSA		inserm.fr	GRCh37	15	52901069	52901069	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1556T																					ENST00000261844.7:c.2042A>C	p.Asn681Thr	p.N681T	ENST00000261844	NM_019600.2	681	aAt/aCt	0	not done		benign	
PRKG1		inserm.fr	GRCh37	10	52913002	52913002	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCB301T																					ENST00000373980.4:c.390T>G	p.Ile130Met	p.I130M	ENST00000373980	NM_006258.3	130	atT/atG	0	validated		benign	
TCF4		inserm.fr	GRCh37	18	52937096	52937096	+	synonymous_variant	Silent	SNP	A	G	G			CHC2103T																					ENST00000398339.1:c.1194T>C	p.Cys398=	p.C398=	ENST00000398339	NM_001243226.1	398	tgT/tgC	0	not done		synonymous	
ZNF534		inserm.fr	GRCh37	19	52942143	52942143	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2103T																					ENST00000332323.6:c.1469A>G	p.Gln490Arg	p.Q490R	ENST00000332323	NM_001143939.1	490	cAg/cGg	0	not done		benign	
PROKR2		inserm.fr	GRCh37	20	5294732	5294732	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC205T									Valid												ENST00000546004.1:c.284T>C	p.Leu95Pro	p.L95P	ENST00000546004		95	cTg/cCg	0	validated		probablydamaging	
TSPYL2		inserm.fr	GRCh37	X	53117054	53117054	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1207T																					ENST00000375442.4:c.2015A>G	p.Asp672Gly	p.D672G	ENST00000375442	NM_022117.3	672	gAc/gGc	0	not done		possiblydamaging	
RFT1		inserm.fr	GRCh37	3	53133403	53133403	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB325T									Valid												ENST00000296292.3:c.1202T>C	p.Val401Ala	p.V401A	ENST00000296292	NM_052859.3	401	gTc/gCc	0	validated		probablydamaging	
ELOVL5		inserm.fr	GRCh37	6	53139970	53139970	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2112T																					ENST00000541407.1:c.495G>C	p.Gln165His	p.Q165H	ENST00000541407		165	caG/caC	0	not done		benign	
RPAIN		inserm.fr	GRCh37	17	5324756	5324756	+	synonymous_variant	Silent	SNP	A	G	G			CHC798T																					ENST00000405578.4:c.222A>G	p.Ser74=	p.S74=	ENST00000405578	NM_001160243.1	74	tcA/tcG	0	validated		synonymous	
ZNF468		inserm.fr	GRCh37	19	53344013	53344013	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB167T																					ENST00000595646.1:c.1534T>C	p.Tyr512His	p.Y512H	ENST00000595646		512	Tac/Cac	0	validated		possiblydamaging	
ZNF468		inserm.fr	GRCh37	19	53344369	53344369	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC465T																					ENST00000595646.1:c.1178G>C	p.Ser393Thr	p.S393T	ENST00000595646		393	aGt/aCt	0	validated		benign	
IQSEC2		inserm.fr	GRCh37	X	53349808	53349808	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC891T																					ENST00000396435.3:c.514G>C	p.Gly172Arg	p.G172R	ENST00000396435	NM_001111125.2	172	Ggg/Cgg	0	validated		possiblydamaging	
DDHD1		inserm.fr	GRCh37	14	53513519	53513519	+	synonymous_variant	Silent	SNP	A	G	G			CHC326T																					ENST00000323669.5:c.2670T>C	p.Asp890=	p.D890=	ENST00000323669	NM_001160148.1	890	gaT/gaC	0	validated		synonymous	
ITGB7		inserm.fr	GRCh37	12	53594041	53594041	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1148T																					ENST00000267082.5:c.187T>C	p.Trp63Arg	p.W63R	ENST00000267082	NM_000889.1	63	Tgg/Cgg	0	not done		probablydamaging	
ZNF347		inserm.fr	GRCh37	19	53645297	53645297	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1742T																					ENST00000452676.2:c.787A>C	p.Lys263Gln	p.K263Q	ENST00000452676	NM_001172674.1	263	Aaa/Caa	0	not done		benign	
PRKG1		inserm.fr	GRCh37	10	53667277	53667277	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2127T																					ENST00000373980.4:c.709T>G	p.Phe237Val	p.F237V	ENST00000373980	NM_006258.3	237	Ttc/Gtc	0	not done		probablydamaging	
ZNF665		inserm.fr	GRCh37	19	53668346	53668346	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1602T																					ENST00000396424.3:c.1397T>C	p.Val466Ala	p.V466A	ENST00000396424	NM_024733.3	466	gTc/gCc	0	not done		benign	
AAAS		inserm.fr	GRCh37	12	53701478	53701478	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC891T																					ENST00000209873.4:c.1436T>C	p.Ile479Thr	p.I479T	ENST00000209873	NM_015665.5	479	aTt/aCt	0	not done		possiblydamaging	
VN1R4		inserm.fr	GRCh37	19	53770304	53770304	+	synonymous_variant	Silent	SNP	T	G	G			CHC2211T																					ENST00000311170.4:c.615A>C	p.Ile205=	p.I205=	ENST00000311170	NM_173857.2	205	atA/atC	0	validated		synonymous	
VN1R4		inserm.fr	GRCh37	19	53770304	53770304	+	synonymous_variant	Silent	SNP	T	G	G			BCM703T																					ENST00000311170.4:c.615A>C	p.Ile205=	p.I205=	ENST00000311170	NM_173857.2	205	atA/atC	0	validated		synonymous	
BIRC8		inserm.fr	GRCh37	19	53793264	53793264	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC303T									Valid												ENST00000426466.1:c.364G>C	p.Gly122Arg	p.G122R	ENST00000426466	NM_033341.4	122	Gga/Cga	0	validated		probablydamaging	
SNX18		inserm.fr	GRCh37	5	53839211	53839211	+	synonymous_variant	Silent	SNP	A	G	G			CHC2351T																					ENST00000381410.4:c.1824A>G	p.Gln608=	p.Q608=	ENST00000381410	NM_001102575.1	608	caA/caG	0	not done		synonymous	
TARBP2		inserm.fr	GRCh37	12	53899880	53899880	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC437T																					ENST00000266987.2:c.1049A>G	p.Glu350Gly	p.E350G	ENST00000266987	NM_134323.1	350	gAg/gGg	0	not done		benign	
ZNF765		inserm.fr	GRCh37	19	53912070	53912070	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC320T																					ENST00000396408.3:c.1262A>G	p.Asn421Ser	p.N421S	ENST00000396408	NM_001040185.1	421	aAt/aGt	0	validated		benign	
DMRTB1		inserm.fr	GRCh37	1	53927179	53927179	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T									Valid												ENST00000371445.3:c.611T>G	p.Leu204Arg	p.L204R	ENST00000371445	NM_033067.1	204	cTg/cGg	0	validated		probablydamaging	
ZNF761		inserm.fr	GRCh37	19	53959896	53959896	+	non_coding_transcript_exon_variant	RNA	SNP	A	G	G			CHC1603T																					ENST00000454407.1:n.2588A>G		*863*	ENST00000454407				0	not done		probablydamaging	
ERLEC1		inserm.fr	GRCh37	2	54021521	54021521	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1137T																					ENST00000185150.4:c.202A>G	p.Ile68Val	p.I68V	ENST00000185150	NM_015701.4	68	Atc/Gtc	0	not done		benign	
ATP5G2		inserm.fr	GRCh37	12	54069854	54069854	+	synonymous_variant	Silent	SNP	A	G	G			CHC327T																					ENST00000394349.3:c.123T>C	p.Leu41=	p.L41=	ENST00000394349	NM_005176.5	41	ctT/ctC	0	validated		synonymous	
ZNF331		inserm.fr	GRCh37	19	54080386	54080386	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1534T																					ENST00000253144.9:c.572A>G	p.Asp191Gly	p.D191G	ENST00000253144	NM_018555.5	191	gAc/gGc	0	validated		possiblydamaging	
PSME4		inserm.fr	GRCh37	2	54101574	54101574	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC801T																					ENST00000404125.1:c.5002A>C	p.Met1668Leu	p.M1668L	ENST00000404125	NM_014614.2	1668	Atg/Ctg	0	not done		benign	
FAM120C		inserm.fr	GRCh37	X	54117851	54117851	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB325T																					ENST00000375180.2:c.2321T>C	p.Val774Ala	p.V774A	ENST00000375180	NM_017848.4	774	gTt/gCt	0	validated		benign	
WNK3		inserm.fr	GRCh37	X	54275179	54275179	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1081T																					ENST00000354646.2:c.3602A>C	p.Lys1201Thr	p.K1201T	ENST00000354646	NM_020922.4	1201	aAa/aCa	0	validated		possiblydamaging	
UNC13C		inserm.fr	GRCh37	15	54306423	54306423	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000260323.11:c.1323C>G	p.Ile441Met	p.I441M	ENST00000260323	NM_001080534.1	441	atC/atG	0	not done		benign	
IRX3		inserm.fr	GRCh37	16	54319761	54319761	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC437T																					ENST00000329734.3:c.202G>C	p.Ala68Pro	p.A68P	ENST00000329734	NM_024336.2	68	Gcc/Ccc	0	not done		probablydamaging	
NLRP1		inserm.fr	GRCh37	17	5433907	5433907	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM617T																					ENST00000572272.1:c.3414G>C	p.Glu1138Asp	p.E1138D	ENST00000572272		1138	gaG/gaC	0	validated		possiblydamaging	
LNX1		inserm.fr	GRCh37	4	54373545	54373545	+	synonymous_variant	Silent	SNP	A	G	G			CHC1207T																					ENST00000263925.7:c.714T>C	p.Ser238=	p.S238=	ENST00000263925	NM_001126328.2	238	agT/agC	0	not done		synonymous	
OR51Q1		inserm.fr	GRCh37	11	5444052	5444052	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1041T									Valid												ENST00000300778.4:c.622A>G	p.Ile208Val	p.I208V	ENST00000300778	NM_001004757.2	208	Att/Gtt	0	validated		probablydamaging	
OR51Q1		inserm.fr	GRCh37	11	5444303	5444303	+	synonymous_variant	Silent	SNP	C	G	G			CHC433T																					ENST00000300778.4:c.873C>G	p.Pro291=	p.P291=	ENST00000300778	NM_001004757.2	291	ccC/ccG	0	validated		synonymous	
GNL3L		inserm.fr	GRCh37	X	54567820	54567820	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC917T																					ENST00000336470.4:c.304A>G	p.Lys102Glu	p.K102E	ENST00000336470	NM_019067.5	102	Aag/Gag	0	validated		possiblydamaging	
CDCP2		inserm.fr	GRCh37	1	54605446	54605446	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2103T																					ENST00000371330.1:c.1097T>C	p.Phe366Ser	p.F366S	ENST00000371330	NM_201546.3	366	tTc/tCc	0	not done		probablydamaging	
PRPF31		inserm.fr	GRCh37	19	54621662	54621662	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC451T																					ENST00000321030.4:c.4T>G	p.Ser2Ala	p.S2A	ENST00000321030	NM_015629.3	2	Tct/Gct	0	validated		possiblydamaging	
NLRP1		inserm.fr	GRCh37	17	5462823	5462823	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1205T																					ENST00000572272.1:c.1193T>C	p.Ile398Thr	p.I398T	ENST00000572272		398	aTc/aCc	0	not done		probablydamaging	
MRPL37		inserm.fr	GRCh37	1	54666230	54666230	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T									Valid												ENST00000360840.5:c.314A>G	p.Tyr105Cys	p.Y105C	ENST00000360840	NM_016491.3	105	tAt/tGt	0	validated		probablydamaging	
TMC4		inserm.fr	GRCh37	19	54666406	54666406	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	G	G			CHC1594T																					ENST00000376591.4:c.1520A>C	p.Lys507Thr	p.K507T	ENST00000376591	NM_001145303.1	507	aAg/aCg	0	not done		probablydamaging	
HNRNPA1		inserm.fr	GRCh37	12	54677647	54677647	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2029T																					ENST00000340913.6:c.959A>G	p.Asn320Ser	p.N320S	ENST00000340913	NM_002136.2	320	aAt/aGt	0	not done		benign	
SKIV2L2		inserm.fr	GRCh37	5	54683887	54683887	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1746T																					ENST00000230640.5:c.2138A>G	p.Glu713Gly	p.E713G	ENST00000230640	NM_015360.4	713	gAa/gGa	0	not done		benign	
TSEN34		inserm.fr	GRCh37	19	54696175	54696175	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1190T																					ENST00000396383.1:c.696C>G	p.Phe232Leu	p.F232L	ENST00000396383		232	ttC/ttG	0	validated		possiblydamaging	
SKIV2L2		inserm.fr	GRCh37	5	54718746	54718746	+	synonymous_variant	Silent	SNP	T	G	G			CHC320T																					ENST00000230640.5:c.3012T>G	p.Leu1004=	p.L1004=	ENST00000230640	NM_015360.4	1004	ctT/ctG	0	validated		synonymous	
LILRA6		inserm.fr	GRCh37	19	54744993	54744993	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC051T																					ENST00000396365.2:c.669G>C	p.Arg223Ser	p.R223S	ENST00000396365	NM_024318.2	223	agG/agC	0	validated		probablydamaging	
LILRA3		inserm.fr	GRCh37	19	54803053	54803053	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1085T																					ENST00000251390.3:c.624G>C	p.Trp208Cys	p.W208C	ENST00000251390	NM_006865.3	208	tgG/tgC	0	validated		probablydamaging	
NET1		inserm.fr	GRCh37	10	5488765	5488765	+	intron_variant	Intron	SNP	A	G	G			CHC1089T																					ENST00000355029.4:c.256-5028A>G		*86*	ENST00000355029	NM_001047160.2			0	validated			
TTYH1		inserm.fr	GRCh37	19	54932548	54932548	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1738T																					ENST00000376531.3:c.403A>G	p.Thr135Ala	p.T135A	ENST00000376531	NM_001005367.2	135	Acc/Gcc	0	not done		benign	
GMFB		inserm.fr	GRCh37	14	54950479	54950479	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC301T									Valid												ENST00000358056.3:c.10T>C	p.Ser4Pro	p.S4P	ENST00000358056	NM_004124.2	4	Tct/Cct	0	validated		possiblydamaging	
GSX2		inserm.fr	GRCh37	4	54968068	54968068	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM265T																					ENST00000326902.2:c.894C>G	p.Asp298Glu	p.D298E	ENST00000326902	NM_133267.2	298	gaC/gaG	0	validated		benign	
LENG8		inserm.fr	GRCh37	19	54971968	54971968	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2141T																					ENST00000326764.5:c.2263T>G	p.Ser755Ala	p.S755A	ENST00000326764	NM_052925.2	755	Tcc/Gcc	0	not done		benign	
DDX4		inserm.fr	GRCh37	5	55082398	55082398	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1741T																					ENST00000505374.1:c.917C>G	p.Ala306Gly	p.A306G	ENST00000505374	NM_024415.2	306	gCt/gGt	0	not done		probablydamaging	
LILRA2		inserm.fr	GRCh37	19	55087346	55087346	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC433T																					ENST00000251377.3:c.1025T>G	p.Leu342Arg	p.L342R	ENST00000251377		342	cTg/cGg	0	validated		probablydamaging	
EML6		inserm.fr	GRCh37	2	55122158	55122158	+	stop_gained	Nonsense_Mutation	SNP	C	G	G			CHC1081T																					ENST00000356458.6:c.2849C>G	p.Ser950Ter	p.S950*	ENST00000356458	NM_001039753.2	950	tCa/tGa	0	validated		damaging	
PDGFRA		inserm.fr	GRCh37	4	55133463	55133463	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC465T																					ENST00000257290.5:c.767A>G	p.Lys256Arg	p.K256R	ENST00000257290	NM_006206.4	256	aAa/aGa	0	validated		benign	
EML6		inserm.fr	GRCh37	2	55138156	55138156	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC801T																					ENST00000356458.6:c.3475C>G	p.Arg1159Gly	p.R1159G	ENST00000356458	NM_001039753.2	1159	Cgg/Ggg	0	not done		possiblydamaging	
TFAP2C		inserm.fr	GRCh37	20	55211686	55211686	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1757T																					ENST00000201031.2:c.943A>G	p.Arg315Gly	p.R315G	ENST00000201031	NM_003222.3	315	Agg/Ggg	0	not done		probablydamaging	
GFRAL		inserm.fr	GRCh37	6	55216362	55216362	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1720T																					ENST00000340465.2:c.682C>G	p.Gln228Glu	p.Q228E	ENST00000340465	NM_207410.2	228	Caa/Gaa	0	not done		benign	
EGFR		inserm.fr	GRCh37	7	55219033	55219033	+	synonymous_variant	Silent	SNP	A	G	G			CHC451T																					ENST00000275493.2:c.606A>G	p.Ala202=	p.A202=	ENST00000275493	NM_005228.3	202	gcA/gcG	0	not done		synonymous	
KIR2DL3		inserm.fr	GRCh37	19	55255448	55255448	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC307T																					ENST00000342376.3:c.576C>G	p.His192Gln	p.H192Q	ENST00000342376	NM_015868.2	192	caC/caG	0	validated		benign	
UBQLN3		inserm.fr	GRCh37	11	5529900	5529900	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC313T									Valid												ENST00000311659.4:c.889G>C	p.Glu297Gln	p.E297Q	ENST00000311659	NM_017481.2	297	Gag/Cag	0	validated		benign	
KIR2DL4		inserm.fr	GRCh37	19	55317541	55317541	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC155T									Valid												ENST00000345540.5:c.497T>G	p.Leu166Arg	p.L166R	ENST00000345540	NM_001080770.1	166	cTt/cGt	0	validated		benign	
OR4C15		inserm.fr	GRCh37	11	55322823	55322823	+	synonymous_variant	Silent	SNP	A	G	G			CHC1763T																					ENST00000314644.2:c.1041A>G	p.Val347=	p.V347=	ENST00000314644	NM_001001920.1	347	gtA/gtG	0	not done		synonymous	
OR4C16		inserm.fr	GRCh37	11	55340268	55340268	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1211T																					ENST00000314634.3:c.665C>G	p.Ser222Cys	p.S222C	ENST00000314634	NM_001004701.2	222	tCt/tGt	0	not done		probablydamaging	
ATP8B1		inserm.fr	GRCh37	18	55355614	55355614	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1747T																					ENST00000536015.1:c.1346A>C	p.His449Pro	p.H449P	ENST00000536015	NM_005603.4	449	cAt/cCt	0	not done		possiblydamaging	
ANKRD55		inserm.fr	GRCh37	5	55398321	55398321	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000341048.4:c.1723T>C	p.Phe575Leu	p.F575L	ENST00000341048	NM_024669.2	575	Ttt/Ctt	0	validated		damaging	
ANKRD55		inserm.fr	GRCh37	5	55412548	55412548	+	synonymous_variant	Silent	SNP	A	G	G			CHC1741T																					ENST00000341048.4:c.859T>C	p.Leu287=	p.L287=	ENST00000341048	NM_024669.2	287	Ttg/Ctg	0	not done		synonymous	
NLRP7		inserm.fr	GRCh37	19	55452823	55452823	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000588756.1:c.257T>C	p.Met86Thr	p.M86T	ENST00000588756		86	aTg/aCg	0	validated		probablydamaging	
SOCS4		inserm.fr	GRCh37	14	55510041	55510041	+	synonymous_variant	Silent	SNP	A	G	G			CHC313T																					ENST00000395472.2:c.282A>G	p.Lys94=	p.K94=	ENST00000395472	NM_080867.2	94	aaA/aaG	0	validated		synonymous	
RP1		inserm.fr	GRCh37	8	55538753	55538753	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC798T									Valid												ENST00000220676.1:c.2311C>G	p.Gln771Glu	p.Q771E	ENST00000220676	NM_006269.1	771	Caa/Gaa	0	validated		possiblydamaging	
OR5D14		inserm.fr	GRCh37	11	55563462	55563462	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1744T																					ENST00000335605.1:c.431C>G	p.Ala144Gly	p.A144G	ENST00000335605	NM_001004735.1	144	gCc/gGc	0	not done		benign	
PCDH15		inserm.fr	GRCh37	10	55570325	55570325	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1191T																					ENST00000373965.2:c.4494G>C	p.Glu1498Asp	p.E1498D	ENST00000373965	NM_001142772.1	1498	gaG/gaC	0	not done			
LPCAT2		inserm.fr	GRCh37	16	55583268	55583268	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1192T																					ENST00000262134.5:c.1015A>G	p.Met339Val	p.M339V	ENST00000262134	NM_017839.4	339	Atg/Gtg	0	not done		possiblydamaging	
OR5L2		inserm.fr	GRCh37	11	55595347	55595347	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1616T																					ENST00000378397.1:c.653A>G	p.Tyr218Cys	p.Y218C	ENST00000378397	NM_001004739.1	218	tAc/tGc	0	not done		probablydamaging	
EPS8L1		inserm.fr	GRCh37	19	55597273	55597273	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC302T																					ENST00000201647.6:c.1450C>G	p.Leu484Val	p.L484V	ENST00000201647	NM_133180.2	484	Ctg/Gtg	0	validated		possiblydamaging	
USP24		inserm.fr	GRCh37	1	55625285	55625285	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	G	G			CHC1746T																					ENST00000294383.6:c.1067A>C	p.Lys356Thr	p.K356T	ENST00000294383	NM_015306.2	356	aAg/aCg	0	not done		possiblydamaging	
PCDH15		inserm.fr	GRCh37	10	55626591	55626591	+	synonymous_variant	Silent	SNP	A	G	G			CHC1154T																					ENST00000361849.3:c.3528T>C	p.Tyr1176=	p.Y1176=	ENST00000361849	NM_001142768.1	1176	taT/taC	0	not done		synonymous	
PIGB		inserm.fr	GRCh37	15	55647563	55647563	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC218T																					ENST00000164305.5:c.1598T>G	p.Ile533Ser	p.I533S	ENST00000164305	NM_004855.4	533	aTt/aGt	0	validated		benign	
PTPRH		inserm.fr	GRCh37	19	55708534	55708534	+	synonymous_variant	Silent	SNP	T	G	G			CHC2099T																					ENST00000376350.3:c.1941A>C	p.Ala647=	p.A647=	ENST00000376350	NM_002842.3	647	gcA/gcC	0	not done		synonymous	
PTPRH		inserm.fr	GRCh37	19	55708768	55708768	+	synonymous_variant	Silent	SNP	T	G	G			CHC2048T																					ENST00000376350.3:c.1707A>C	p.Thr569=	p.T569=	ENST00000376350	NM_002842.3	569	acA/acC	0	not done		synonymous	
HSPBP1		inserm.fr	GRCh37	19	55789165	55789165	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM695T																					ENST00000255631.5:c.260G>C	p.Arg87Pro	p.R87P	ENST00000255631	NM_012267.4	87	cGg/cCg	0	validated		probablydamaging	
SMEK2		inserm.fr	GRCh37	2	55816053	55816053	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC614T									Valid												ENST00000345102.5:c.961A>C	p.Thr321Pro	p.T321P	ENST00000345102	NM_001122964.1	321	Aca/Cca	0	validated		probablydamaging	
PYGO1		inserm.fr	GRCh37	15	55838818	55838818	+	synonymous_variant	Silent	SNP	A	G	G			CHC2110Tbis																					ENST00000302000.6:c.663T>C	p.Ser221=	p.S221=	ENST00000302000	NM_015617.2	221	tcT/tcC	0	not done		synonymous	
SEPT14		inserm.fr	GRCh37	7	55872991	55872991	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1192T																					ENST00000388975.3:c.1079T>C	p.Val360Ala	p.V360A	ENST00000388975	NM_207366.2	360	gTc/gCc	0	not done		probablydamaging	
OR6C4		inserm.fr	GRCh37	12	55945317	55945317	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1597T																					ENST00000394256.2:c.307A>G	p.Ile103Val	p.I103V	ENST00000394256	NM_001005494.1	103	Ata/Gta	0	not done		possiblydamaging	
RAE1		inserm.fr	GRCh37	20	55948621	55948621	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM783T																					ENST00000395841.2:c.733A>G	p.Ile245Val	p.I245V	ENST00000395841	NM_003610.3	245	Atc/Gtc	0	validated		benign	
CUEDC1		inserm.fr	GRCh37	17	55962682	55962682	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM501T																					ENST00000577830.1:c.244G>C	p.Asp82His	p.D82H	ENST00000577830	NM_001271875.1	82	Gac/Cac	0	validated		probablydamaging	
KDR		inserm.fr	GRCh37	4	55980378	55980378	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1209T																					ENST00000263923.4:c.713T>C	p.Val238Ala	p.V238A	ENST00000263923	NM_002253.2	238	gTt/gCt	0	not done		benign	
ZNF713		inserm.fr	GRCh37	7	56007392	56007392	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1192T																					ENST00000429591.2:c.986A>G	p.Tyr329Cys	p.Y329C	ENST00000429591	NM_182633.1	329	tAt/tGt	0	not done		probablydamaging	
SSC5D		inserm.fr	GRCh37	19	56029790	56029790	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCB325T																					ENST00000389623.6:c.4147T>G	p.Leu1383Val	p.L1383V	ENST00000389623	NM_001144950.1	1383	Tta/Gta	0	validated		benign	
OR8K3		inserm.fr	GRCh37	11	56086321	56086321	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1065T									Valid												ENST00000312711.1:c.539A>G	p.Asp180Gly	p.D180G	ENST00000312711	NM_001005202.1	180	gAc/gGc	0	validated		possiblydamaging	
PCDH15		inserm.fr	GRCh37	10	56089394	56089394	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1205T																					ENST00000361849.3:c.667G>C	p.Glu223Gln	p.E223Q	ENST00000361849	NM_001142768.1	223	Gaa/Caa	0	not done		probablydamaging	
KTN1		inserm.fr	GRCh37	14	56105920	56105920	+	synonymous_variant	Silent	SNP	A	G	G			BCM735T																					ENST00000395314.3:c.1803A>G	p.Leu601=	p.L601=	ENST00000395314	NM_001079521.1	601	ctA/ctG	0	validated		synonymous	
OR8J1		inserm.fr	GRCh37	11	56127945	56127945	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000303039.3:c.223A>G	p.Thr75Ala	p.T75A	ENST00000303039	NM_001005205.2	75	Act/Gct	0	validated		possiblydamaging	
PCK1		inserm.fr	GRCh37	20	56138624	56138624	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2034T																					ENST00000319441.4:c.802C>G	p.Leu268Val	p.L268V	ENST00000319441	NM_002591.3	268	Ctg/Gtg	0	not done		possiblydamaging	
CHCHD2		inserm.fr	GRCh37	7	56170586	56170586	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC301T																					ENST00000395422.3:c.419T>C	p.Val140Ala	p.V140A	ENST00000395422	NM_016139.2	140	gTg/gCg	0	validated		probablydamaging	
ALPK2		inserm.fr	GRCh37	18	56203507	56203507	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM339T																					ENST00000361673.3:c.3912G>C	p.Glu1304Asp	p.E1304D	ENST00000361673	NM_052947.3	1304	gaG/gaC	0	validated		benign	
EPN1		inserm.fr	GRCh37	19	56204138	56204138	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM683T									Valid												ENST00000411543.2:c.1411A>G	p.Lys471Glu	p.K471E	ENST00000411543	NM_001130071.1	471	Aag/Gag	0	validated		probablydamaging	
NEDD4		inserm.fr	GRCh37	15	56207923	56207923	+	synonymous_variant	Silent	SNP	T	G	G			CHC1028T																					ENST00000338963.2:c.1107A>C	p.Ser369=	p.S369=	ENST00000338963	NM_198400.2	369	tcA/tcC	0	not done		synonymous	
NLRP9		inserm.fr	GRCh37	19	56228254	56228254	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2216T																					ENST00000332836.2:c.2170T>C	p.Cys724Arg	p.C724R	ENST00000332836	NM_176820.2	724	Tgt/Cgt	0	not done		probablydamaging	
ALPK2		inserm.fr	GRCh37	18	56247375	56247375	+	synonymous_variant	Silent	SNP	A	G	G			CHC703T																					ENST00000361673.3:c.633T>C	p.Ile211=	p.I211=	ENST00000361673	NM_052947.3	211	atT/atC	0	not done		synonymous	
OR4D2		inserm.fr	GRCh37	17	56247590	56247590	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1744T																					ENST00000545221.1:c.574A>G	p.Thr192Ala	p.T192A	ENST00000545221	NM_001004707.3	192	Acc/Gcc	0	not done		benign	
OR5M8		inserm.fr	GRCh37	11	56258127	56258127	+	synonymous_variant	Silent	SNP	A	G	G			CHC361TA																					ENST00000327216.2:c.720T>C	p.Cys240=	p.C240=	ENST00000327216	NM_001005282.1	240	tgT/tgC	0	validated		synonymous	
MKS1		inserm.fr	GRCh37	17	56290387	56290387	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000393119.2:c.814G>C	p.Ala272Pro	p.A272P	ENST00000393119	NM_017777.3	272	Gca/Cca	0	not done		benign	
DGKA		inserm.fr	GRCh37	12	56333001	56333001	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM275T																					ENST00000331886.5:c.506A>G	p.Tyr169Cys	p.Y169C	ENST00000331886	NM_001345.4	169	tAt/tGt	0	validated		benign	
PMEL		inserm.fr	GRCh37	12	56350733	56350733	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC2098T																					ENST00000449260.2:c.1354G>C	p.Gly452Arg	p.G452R	ENST00000449260	NM_001200054.1	452	Ggt/Cgt	0	not done		damaging	
PMEL		inserm.fr	GRCh37	12	56351406	56351406	+	synonymous_variant	Silent	SNP	T	G	G			CHC437T																					ENST00000449260.2:c.681A>C	p.Gly227=	p.G227=	ENST00000449260	NM_001200054.1	227	ggA/ggC	0	not done		synonymous	
DST		inserm.fr	GRCh37	6	56376134	56376134	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2141T																					ENST00000244364.6:c.10772A>C	p.Gln3591Pro	p.Q3591P	ENST00000244364	NM_015548.4	3591	cAg/cCg	0	not done		probablydamaging	
OR5M1		inserm.fr	GRCh37	11	56380107	56380107	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC218T																					ENST00000526538.1:c.872G>C	p.Ser291Thr	p.S291T	ENST00000526538	NM_001004740.1	291	aGc/aCc	0	validated		possiblydamaging	
OR5M1		inserm.fr	GRCh37	11	56380941	56380941	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1154T																					ENST00000526538.1:c.38T>C	p.Ile13Thr	p.I13T	ENST00000526538	NM_001004740.1	13	aTt/aCt	0	not done		possiblydamaging	
RAB5B		inserm.fr	GRCh37	12	56384584	56384584	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC197T									Valid												ENST00000360299.5:c.434A>G	p.Tyr145Cys	p.Y145C	ENST00000360299	NM_002868.3	145	tAt/tGt	0	validated		benign	
NLRP13		inserm.fr	GRCh37	19	56413480	56413480	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1747T																					ENST00000342929.3:c.2710A>C	p.Lys904Gln	p.K904Q	ENST00000342929	NM_176810.2	904	Aag/Cag	0	not done		possiblydamaging	
OR5AR1		inserm.fr	GRCh37	11	56431698	56431698	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000302969.2:c.537C>G	p.Cys179Trp	p.C179W	ENST00000302969	NM_001004730.1	179	tgC/tgG	0	not done		probablydamaging	
AMFR		inserm.fr	GRCh37	16	56441908	56441908	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1774T																					ENST00000290649.5:c.634G>C	p.Gly212Arg	p.G212R	ENST00000290649	NM_001144.5	212	Gga/Cga	0	validated		probablydamaging	
OGFOD1		inserm.fr	GRCh37	16	56501155	56501155	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2099T																					ENST00000566157.1:c.736C>G	p.Pro246Ala	p.P246A	ENST00000566157	NM_018233.3	246	Ccc/Gcc	0	not done		benign	
ESYT1		inserm.fr	GRCh37	12	56522309	56522309	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC912T																					ENST00000541590.1:c.206A>G	p.Tyr69Cys	p.Y69C	ENST00000541590		69	tAt/tGt	0	validated		probablydamaging	
ESYT1		inserm.fr	GRCh37	12	56526006	56526006	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC794T									Valid												ENST00000541590.1:c.874A>G	p.Thr292Ala	p.T292A	ENST00000541590		292	Acc/Gcc	0	validated		probablydamaging	
BBS2		inserm.fr	GRCh37	16	56533743	56533743	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2321T																					ENST00000245157.5:c.1474G>C	p.Ala492Pro	p.A492P	ENST00000245157	NM_031885.3	492	Gcc/Ccc	0	validated		benign	
SAFB		inserm.fr	GRCh37	19	5654122	5654122	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T																					ENST00000588852.1:c.1577A>G	p.Lys526Arg	p.K526R	ENST00000588852		526	aAg/aGg	0	validated		benign	
ZNF787		inserm.fr	GRCh37	19	56599455	56599455	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2111T																					ENST00000270459.3:c.1086G>C	p.Glu362Asp	p.E362D	ENST00000270459	NM_001002836.2	362	gaG/gaC	0	validated		benign	
ANKRD52		inserm.fr	GRCh37	12	56647865	56647865	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1602T																					ENST00000267116.7:c.892G>C	p.Asp298His	p.D298H	ENST00000267116	NM_173595.3	298	Gac/Cac	0	not done		probablydamaging	
CS		inserm.fr	GRCh37	12	56668598	56668598	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC805T																					ENST00000351328.3:c.983T>C	p.Leu328Ser	p.L328S	ENST00000351328	NM_004077.2	328	tTa/tCa	0	not done		probablydamaging	
PAN2		inserm.fr	GRCh37	12	56717126	56717126	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM337T																					ENST00000425394.2:c.2326T>C	p.Ser776Pro	p.S776P	ENST00000425394	NM_001127460.2	776	Tcc/Ccc	0	validated		benign	
OR5AK2		inserm.fr	GRCh37	11	56756871	56756871	+	synonymous_variant	Silent	SNP	T	G	G			CHC2200T																					ENST00000326855.2:c.483T>G	p.Gly161=	p.G161=	ENST00000326855	NM_001005323.1	161	ggT/ggG	0	not done		synonymous	
EXOC1		inserm.fr	GRCh37	4	56759736	56759736	+	synonymous_variant	Silent	SNP	A	G	G			CHC1190T																					ENST00000381295.2:c.1743A>G	p.Gln581=	p.Q581=	ENST00000381295	NM_001024924.1	581	caA/caG	0	validated		synonymous	
EXOC1		inserm.fr	GRCh37	4	56770602	56770602	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1763T																					ENST00000381295.2:c.2626A>G	p.Met876Val	p.M876V	ENST00000381295	NM_001024924.1	876	Atg/Gtg	0	not done		probablydamaging	
CEP135		inserm.fr	GRCh37	4	56818369	56818369	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC892T																					ENST00000257287.4:c.73C>G	p.Leu25Val	p.L25V	ENST00000257287	NM_025009.4	25	Ctg/Gtg	0	not done		probablydamaging	
PPM1E		inserm.fr	GRCh37	17	56833359	56833359	+	start_lost	Translation_Start_Site	SNP	A	G	G			BCB307T									Valid												ENST00000308249.2:c.1A>G	p.Met1?	p.M1?	ENST00000308249	NM_014906.4	1	Atg/Gtg	0	validated		possiblydamaging	
CEP135		inserm.fr	GRCh37	4	56841124	56841124	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC327T																					ENST00000257287.4:c.1462A>G	p.Thr488Ala	p.T488A	ENST00000257287	NM_025009.4	488	Aca/Gca	0	validated		benign	
EVC2		inserm.fr	GRCh37	4	5687159	5687159	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1743T																					ENST00000344408.5:c.754G>C	p.Asp252His	p.D252H	ENST00000344408	NM_147127.4	252	Gac/Cac	0	not done		benign	
LYN		inserm.fr	GRCh37	8	56922623	56922623	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2206T																					ENST00000519728.1:c.1493A>G	p.Asp498Gly	p.D498G	ENST00000519728	NM_002350.3	498	gAt/gGt	0	not done		benign	
ZNF667		inserm.fr	GRCh37	19	56969615	56969615	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	G	G			CHC898T																					ENST00000504904.3:c.162T>C	p.Gly54=	p.G54=	ENST00000504904		54	ggT/ggC	0	not done		possiblydamaging	
TRIM5		inserm.fr	GRCh37	11	5700379	5700379	+	synonymous_variant	Silent	SNP	C	G	G			CHC1708T																					ENST00000380034.3:c.438G>C	p.Leu146=	p.L146=	ENST00000380034	NM_033034.2	146	ctG/ctC	0	not done		synonymous	
ZNF471		inserm.fr	GRCh37	19	57027719	57027719	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCB301T																					ENST00000308031.5:c.109C>G	p.Arg37Gly	p.R37G	ENST00000308031	NM_020813.2	37	Cgt/Ggt	0	validated		benign	
TNKS1BP1		inserm.fr	GRCh37	11	57080142	57080142	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1085T																					ENST00000532437.1:c.2020G>C	p.Glu674Gln	p.E674Q	ENST00000532437		674	Gag/Cag	0	validated		probablydamaging	
P2RX3		inserm.fr	GRCh37	11	57116169	57116169	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM711T																					ENST00000263314.2:c.554A>G	p.Asn185Ser	p.N185S	ENST00000263314	NM_002559.3	185	aAc/aGc	0	validated		possiblydamaging	
IL17RD		inserm.fr	GRCh37	3	57132553	57132553	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1747T																					ENST00000296318.7:c.1178T>C	p.Leu393Pro	p.L393P	ENST00000296318	NM_017563.3	393	cTg/cCg	0	not done		possiblydamaging	
SLC43A1		inserm.fr	GRCh37	11	57263621	57263621	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2098T																					ENST00000278426.3:c.575G>C	p.Gly192Ala	p.G192A	ENST00000278426	NM_003627.5	192	gGt/gCt	0	not done		probablydamaging	
OTX2		inserm.fr	GRCh37	14	57268573	57268573	+	synonymous_variant	Silent	SNP	A	G	G			CHC1742T																					ENST00000339475.5:c.774T>C	p.Phe258=	p.F258=	ENST00000339475	NM_001270524.1	258	ttT/ttC	0	not done		synonymous	
PEG3		inserm.fr	GRCh37	19	57326307	57326307	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM783T																					ENST00000326441.9:c.3503G>C	p.Cys1168Ser	p.C1168S	ENST00000326441	NM_006210.2	1168	tGt/tCt	0	validated		probablydamaging	
PEG3		inserm.fr	GRCh37	19	57329204	57329204	+	splice_acceptor_variant	Splice_Site	SNP	C	G	G			BCM337T																					ENST00000326441.9:c.773-1G>C		p.X258_splice	ENST00000326441	NM_006210.2			0	validated		damaging	
C8A		inserm.fr	GRCh37	1	57333332	57333332	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM695T																					ENST00000361249.3:c.128A>G	p.Asn43Ser	p.N43S	ENST00000361249	NM_000562.2	43	aAc/aGc	0	validated		benign	
SRP72		inserm.fr	GRCh37	4	57337912	57337912	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC205T									Valid												ENST00000342756.5:c.257A>G	p.Tyr86Cys	p.Y86C	ENST00000342756	NM_006947.3	86	tAt/tGt	0	validated		probablydamaging	
CX3CL1		inserm.fr	GRCh37	16	57413662	57413662	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC302T																					ENST00000006053.6:c.187A>G	p.Ile63Val	p.I63V	ENST00000006053	NM_002996.3	63	Atc/Gtc	0	validated		benign	
TCF12		inserm.fr	GRCh37	15	57484397	57484397	+	synonymous_variant	Silent	SNP	A	G	G			CHC1594T																					ENST00000438423.2:c.432A>G	p.Ala144=	p.A144=	ENST00000438423	NM_207037.1	144	gcA/gcG	0	not done		synonymous	
GNAS		inserm.fr	GRCh37	20	57485041	57485041	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2216T																					ENST00000371085.3:c.875A>G	p.Asn292Ser	p.N292S	ENST00000371085	NM_000516.4	292	aAc/aGc	0	not done		probablydamaging	
C20orf196		inserm.fr	GRCh37	20	5753512	5753512	+	start_lost	Translation_Start_Site	SNP	A	G	G			CHC2099T																					ENST00000303142.6:c.1A>G	p.Met1?	p.M1?	ENST00000303142	NM_152504.2	1	Atg/Gtg	0	not done		probablydamaging	
CTNND1		inserm.fr	GRCh37	11	57558951	57558951	+	start_lost	Translation_Start_Site	SNP	A	G	G			CHC1715T																					ENST00000399050.4:c.1A>G	p.Met1?	p.M1?	ENST00000399050	NM_001085458.1	1	Atg/Gtg	0	not done		possiblydamaging	
TCF12		inserm.fr	GRCh37	15	57565407	57565407	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1566T																					ENST00000438423.2:c.1925T>G	p.Leu642Arg	p.L642R	ENST00000438423	NM_207037.1	642	cTt/cGt	0	not done		probablydamaging	
SHMT2		inserm.fr	GRCh37	12	57626053	57626053	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC051T									Valid												ENST00000328923.3:c.572A>G	p.Glu191Gly	p.E191G	ENST00000328923	NM_005412.5	191	gAg/gGg	0	validated		probablydamaging	
STAC3		inserm.fr	GRCh37	12	57642990	57642990	+	synonymous_variant	Silent	SNP	C	G	G			BCM703T																					ENST00000332782.2:c.168G>C	p.Gly56=	p.G56=	ENST00000332782	NM_145064.1	56	ggG/ggC	0	validated		synonymous	
ZNF264		inserm.fr	GRCh37	19	57723862	57723862	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1594T																					ENST00000263095.6:c.1397A>G	p.Asn466Ser	p.N466S	ENST00000263095	NM_003417.4	466	aAt/aGt	0	not done		benign	
CLTC		inserm.fr	GRCh37	17	57733342	57733342	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1601T																					ENST00000269122.3:c.923C>G	p.Pro308Arg	p.P308R	ENST00000269122	NM_004859.3	308	cCt/cGt	0	not done		benign	
CLTC		inserm.fr	GRCh37	17	57758757	57758757	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2351T																					ENST00000269122.3:c.3167C>G	p.Ala1056Gly	p.A1056G	ENST00000269122	NM_004859.3	1056	gCc/gGc	0	not done		probablydamaging	
ZNF543		inserm.fr	GRCh37	19	57839956	57839956	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC912T									Valid												ENST00000321545.4:c.1126T>G	p.Phe376Val	p.F376V	ENST00000321545	NM_213598.3	376	Ttt/Gtt	0	validated		probablydamaging	
INHBC		inserm.fr	GRCh37	12	57843732	57843732	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC306T									Valid												ENST00000309668.2:c.986A>G	p.Tyr329Cys	p.Y329C	ENST00000309668	NM_005538.2	329	tAt/tGt	0	validated		probablydamaging	
FAM208B		inserm.fr	GRCh37	10	5784430	5784430	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1040T																					ENST00000328090.5:c.2698A>G	p.Arg900Gly	p.R900G	ENST00000328090	NM_017782.4	900	Aga/Gga	0	not done		benign	
INHBE		inserm.fr	GRCh37	12	57849334	57849334	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC879T																					ENST00000266646.2:c.15T>G	p.Asp5Glu	p.D5E	ENST00000266646	NM_031479.3	5	gaT/gaG	0	not done		benign	
GLI1		inserm.fr	GRCh37	12	57858634	57858634	+	synonymous_variant	Silent	SNP	C	G	G			CHC1600T																					ENST00000228682.2:c.372C>G	p.Leu124=	p.L124=	ENST00000228682	NM_005269.2	124	ctC/ctG	0	not done		synonymous	
NAA30		inserm.fr	GRCh37	14	57866561	57866561	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1183T																					ENST00000556492.1:c.911A>G	p.Lys304Arg	p.K304R	ENST00000556492	NM_001011713.2	304	aAg/aGg	0	not done		benign	
IMPAD1		inserm.fr	GRCh37	8	57892686	57892686	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1741T																					ENST00000262644.4:c.458A>C	p.Asp153Ala	p.D153A	ENST00000262644	NM_017813.4	153	gAt/gCt	0	not done		possiblydamaging	
SLMAP		inserm.fr	GRCh37	3	57898209	57898209	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC923T																					ENST00000295951.3:c.1699A>G	p.Ile567Val	p.I567V	ENST00000295951		567	Att/Gtt	0	not done		probablydamaging	
ZNF548		inserm.fr	GRCh37	19	57910665	57910665	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC609T									Valid												ENST00000336128.7:c.1046A>G	p.Tyr349Cys	p.Y349C	ENST00000336128	NM_001172773.1	349	tAt/tGt	0	validated		probablydamaging	
MBD6		inserm.fr	GRCh37	12	57919581	57919581	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T																					ENST00000355673.3:c.830A>G	p.Asn277Ser	p.N277S	ENST00000355673	NM_052897.3	277	aAt/aGt	0	validated		possiblydamaging	
OR9Q1		inserm.fr	GRCh37	11	57947246	57947246	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1180T																					ENST00000335397.3:c.330C>G	p.Ile110Met	p.I110M	ENST00000335397	NM_001005212.3	110	atC/atG	0	validated		possiblydamaging	
OR9Q1		inserm.fr	GRCh37	11	57947318	57947318	+	synonymous_variant	Silent	SNP	C	G	G			CHC1700T																					ENST00000335397.3:c.402C>G	p.Thr134=	p.T134=	ENST00000335397	NM_001005212.3	134	acC/acG	0	not done		synonymous	
FAM208B		inserm.fr	GRCh37	10	5798691	5798691	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000328090.5:c.6722A>G	p.His2241Arg	p.H2241R	ENST00000328090	NM_017782.4	2241	cAt/cGt	0	not done		benign	
OR52N5		inserm.fr	GRCh37	11	5799467	5799467	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1763T																					ENST00000317093.2:c.398T>C	p.Val133Ala	p.V133A	ENST00000317093	NM_001001922.2	133	gTa/gCa	0	not done		benign	
SLC26A10P		inserm.fr	GRCh37	12	58016818	58016818	+	synonymous_variant	Silent	SNP	A	G	G			CHC314T																					ENST00000320442.4:c.951A>G	p.Ala317=	p.A317=	ENST00000320442	NM_133489.2	317	gcA/gcG	0	validated		synonymous	
B4GALNT1		inserm.fr	GRCh37	12	58021597	58021597	+	synonymous_variant	Silent	SNP	A	G	G			CHC614T																					ENST00000341156.4:c.1188T>C	p.Tyr396=	p.Y396=	ENST00000341156	NM_001478.4	396	taT/taC	0	validated		synonymous	
POLR2M		inserm.fr	GRCh37	15	58027678	58027678	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM339T																					ENST00000380563.2:c.977A>G	p.Tyr326Cys	p.Y326C	ENST00000380563		326	tAc/tGc	0	validated			
MC4R		inserm.fr	GRCh37	18	58038652	58038652	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1052T									Valid												ENST00000299766.3:c.931A>C	p.Lys311Gln	p.K311Q	ENST00000299766	NM_005912.2	311	Aaa/Caa	0	validated		possiblydamaging	
ZNF549		inserm.fr	GRCh37	19	58048590	58048590	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC320T																					ENST00000376233.3:c.218A>G	p.Glu73Gly	p.E73G	ENST00000376233	NM_001199295.1	73	gAg/gGg	0	validated		benign	
ERMP1		inserm.fr	GRCh37	9	5805619	5805619	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2115T																					ENST00000339450.5:c.1715A>C	p.Lys572Thr	p.K572T	ENST00000339450	NM_024896.2	572	aAg/aCg	0	not done		possiblydamaging	
GDI2		inserm.fr	GRCh37	10	5807974	5807974	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC703T																					ENST00000380191.4:c.1333G>C	p.Asp445His	p.D445H	ENST00000380191	NM_001494.3	445	Gac/Cac	0	validated		possiblydamaging	
OS9		inserm.fr	GRCh37	12	58089784	58089784	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1180T																					ENST00000315970.7:c.443A>G	p.Tyr148Cys	p.Y148C	ENST00000315970	NM_006812.3	148	tAc/tGc	0	validated		probablydamaging	
FLNB		inserm.fr	GRCh37	3	58117738	58117738	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1568T																					ENST00000490882.1:c.4475A>G	p.Asn1492Ser	p.N1492S	ENST00000490882	NM_001164317.1	1492	aAt/aGt	0	not done			
ZNF134		inserm.fr	GRCh37	19	58132733	58132733	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2098T																					ENST00000396161.5:c.1246A>G	p.Asn416Asp	p.N416D	ENST00000396161	NM_003435.3	416	Aat/Gat	0	not done		benign	
FLNB		inserm.fr	GRCh37	3	58140516	58140516	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC2113T																					ENST00000490882.1:c.6728-2A>G		p.X2243_splice	ENST00000490882	NM_001164317.1			0	not done		damaging	
OR5B3		inserm.fr	GRCh37	11	58170701	58170701	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1715T																					ENST00000309403.2:c.182T>C	p.Leu61Pro	p.L61P	ENST00000309403	NM_001005469.1	61	cTc/cCc	0	not done		probablydamaging	
ZSCAN4		inserm.fr	GRCh37	19	58189906	58189906	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC302T									Valid												ENST00000318203.5:c.935A>G	p.Tyr312Cys	p.Y312C	ENST00000318203	NM_152677.2	312	tAc/tGc	0	validated		probablydamaging	
ZNF154		inserm.fr	GRCh37	19	58213065	58213065	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM371T																					ENST00000512439.2:c.1252T>C	p.Cys418Arg	p.C418R	ENST00000512439		418	Tgt/Cgt	0	validated		probablydamaging	
ZNF776		inserm.fr	GRCh37	19	58265482	58265482	+	synonymous_variant	Silent	SNP	T	G	G			CHC1743T																					ENST00000317178.5:c.984T>G	p.Ser328=	p.S328=	ENST00000317178	NM_173632.3	328	tcT/tcG	0	not done		synonymous	
ABHD6		inserm.fr	GRCh37	3	58279477	58279477	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2112T																					ENST00000478253.1:c.999C>G	p.Asn333Lys	p.N333K	ENST00000478253		333	aaC/aaG	0	not done		benign	
PDE4D		inserm.fr	GRCh37	5	58285703	58285703	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM695T																					ENST00000340635.6:c.1331T>C	p.Leu444Ser	p.L444S	ENST00000340635	NM_001104631.1	444	tTa/tCa	0	validated		probablydamaging	
SOX11		inserm.fr	GRCh37	2	5833291	5833291	+	synonymous_variant	Silent	SNP	C	G	G			CHC437T																					ENST00000322002.3:c.438C>G	p.Gly146=	p.G146=	ENST00000322002	NM_003108.3	146	ggC/ggG	0	not done		synonymous	
GINS3		inserm.fr	GRCh37	16	58426688	58426688	+	synonymous_variant	Silent	SNP	A	G	G			CHC1040T																					ENST00000426538.2:c.183A>G	p.Pro61=	p.P61=	ENST00000426538	NM_001126129.1	61	ccA/ccG	0	not done		synonymous	
SYCP2		inserm.fr	GRCh37	20	58455485	58455485	+	synonymous_variant	Silent	SNP	A	G	G			BCB301T																					ENST00000357552.3:c.2814T>C	p.Thr938=	p.T938=	ENST00000357552		938	acT/acC	0	validated		synonymous	
CRMP1		inserm.fr	GRCh37	4	5851159	5851159	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM567T																					ENST00000324989.7:c.923T>C	p.Val308Ala	p.V308A	ENST00000324989	NM_001014809.1	308	gTg/gCg	0	validated		probablydamaging	
TCF15		inserm.fr	GRCh37	20	585299	585299	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM483T									Valid												ENST00000246080.3:c.536G>C	p.Arg179Pro	p.R179P	ENST00000246080	NM_004609.3	179	cGt/cCt	0	validated		probablydamaging	
SETD6		inserm.fr	GRCh37	16	58552917	58552917	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM275T									Valid												ENST00000219315.4:c.1406T>G	p.Leu469Trp	p.L469W	ENST00000219315		469	tTg/tGg	0	validated		probablydamaging	
CNOT1		inserm.fr	GRCh37	16	58562455	58562455	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM439T																					ENST00000317147.5:c.6377T>C	p.Ile2126Thr	p.I2126T	ENST00000317147	NM_016284.4	2126	aTc/aCc	0	validated		possiblydamaging	
CNOT1		inserm.fr	GRCh37	16	58572101	58572101	+	synonymous_variant	Silent	SNP	A	G	G			CHC1061T																					ENST00000317147.5:c.5205T>C	p.His1735=	p.H1735=	ENST00000317147	NM_016284.4	1735	caT/caC	0	validated		synonymous	
ZNF135		inserm.fr	GRCh37	19	58573055	58573055	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1055T									Valid												ENST00000401053.4:c.177C>G	p.Phe59Leu	p.F59L	ENST00000401053	NM_001164529.1	59	ttC/ttG	0	validated		benign	
ZSCAN18		inserm.fr	GRCh37	19	58596066	58596066	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC902T																					ENST00000600404.1:c.1687G>C	p.Glu563Gln	p.E563Q	ENST00000600404	NM_001145542.1	563	Gag/Cag	0	not done		probablydamaging	
FAM3D		inserm.fr	GRCh37	3	58622061	58622061	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2034T																					ENST00000358781.2:c.545T>C	p.Ile182Thr	p.I182T	ENST00000358781	NM_138805.2	182	aTa/aCa	0	not done		benign	
CNOT1		inserm.fr	GRCh37	16	58633173	58633173	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC909T																					ENST00000317147.5:c.69A>C	p.Lys23Asn	p.K23N	ENST00000317147	NM_016284.4	23	aaA/aaC	0	not done		probablydamaging	
ARID4A		inserm.fr	GRCh37	14	58832828	58832828	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1629T																					ENST00000355431.3:c.3403C>G	p.Gln1135Glu	p.Q1135E	ENST00000355431	NM_002892.3	1135	Cag/Gag	0	not done		probablydamaging	
TIMM9		inserm.fr	GRCh37	14	58875789	58875789	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC304T									Valid												ENST00000395159.2:c.233T>C	p.Leu78Pro	p.L78P	ENST00000395159	NM_012460.2	78	cTg/cCg	0	validated		probablydamaging	
RPS5		inserm.fr	GRCh37	19	58904401	58904401	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1594T																					ENST00000596046.1:c.167A>G	p.Tyr56Cys	p.Y56C	ENST00000596046		56	tAt/tGt	0	not done		probablydamaging	
CRMP1		inserm.fr	GRCh37	4	5894398	5894398	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1600T																					ENST00000324989.7:c.299G>C	p.Gly100Ala	p.G100A	ENST00000324989	NM_001014809.1	100	gGa/gCa	0	validated		benign	
OMA1		inserm.fr	GRCh37	1	59002184	59002184	+	splice_donor_variant	Splice_Site	SNP	C	G	G			CHC1035T									Valid												ENST00000371226.3:c.729+1G>C		p.X243_splice	ENST00000371226	NM_145243.3			0	validated		damaging	
CHGB		inserm.fr	GRCh37	20	5903217	5903217	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1601T																					ENST00000378961.4:c.427C>G	p.Pro143Ala	p.P143A	ENST00000378961	NM_001819.2	143	Ccc/Gcc	0	not done		benign	
OR52E4		inserm.fr	GRCh37	11	5905592	5905592	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC432T																					ENST00000316987.2:c.70A>G	p.Thr24Ala	p.T24A	ENST00000316987	NM_001005165.1	24	Act/Gct	0	not done		benign	
OR5A1		inserm.fr	GRCh37	11	59210708	59210708	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1743T																					ENST00000302030.2:c.67C>G	p.His23Asp	p.H23D	ENST00000302030	NM_001004728.1	23	Cat/Gat	0	not done		benign	
ANKRD16		inserm.fr	GRCh37	10	5925035	5925035	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T																					ENST00000380094.5:c.783A>C	p.Glu261Asp	p.E261D	ENST00000380094	NM_019046.2	261	gaA/gaC	0	validated		benign	
ANKRD16		inserm.fr	GRCh37	10	5925042	5925042	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1185T																					ENST00000380094.5:c.776T>C	p.Val259Ala	p.V259A	ENST00000380094	NM_019046.2	259	gTc/gCc	0	not done		probablydamaging	
C17orf82		inserm.fr	GRCh37	17	59489676	59489676	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCB109T																					ENST00000335108.2:c.340C>G	p.Leu114Val	p.L114V	ENST00000335108	NM_203425.1	114	Ctt/Gtt	0	validated		benign	
FBXO18		inserm.fr	GRCh37	10	5958348	5958348	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC892T																					ENST00000379999.5:c.1870A>G	p.Ile624Val	p.I624V	ENST00000379999	NM_032807.4	624	Att/Gtt	0	not done		benign	
MCM8		inserm.fr	GRCh37	20	5966586	5966586	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC609T																					ENST00000378896.3:c.1972A>G	p.Ile658Val	p.I658V	ENST00000378896	NM_001281520.1	658	Ata/Gta	0	validated		benign	
CAPN15		inserm.fr	GRCh37	16	597229	597229	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC902T																					ENST00000219611.2:c.391A>G	p.Lys131Glu	p.K131E	ENST00000219611	NM_005632.2	131	Aag/Gag	0	not done		benign	
DAAM1		inserm.fr	GRCh37	14	59826177	59826177	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1601T																					ENST00000395125.1:c.2618A>G	p.Asn873Ser	p.N873S	ENST00000395125	NM_014992.2	873	aAt/aGt	0	not done		benign	
C4orf50		inserm.fr	GRCh37	4	5990393	5990393	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2216T																					ENST00000531445.1:c.1106T>C	p.Met369Thr	p.M369T	ENST00000531445		369	aTg/aCg	0	not done			
GCNT3		inserm.fr	GRCh37	15	59911515	59911515	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC892T																					ENST00000396065.1:c.1078A>G	p.Ile360Val	p.I360V	ENST00000396065	NM_004751.2	360	Att/Gtt	0	not done		benign	
MS4A6A		inserm.fr	GRCh37	11	59939691	59939691	+	downstream_gene_variant	3'Flank	SNP	A	G	G			CHC1744T																								ENST00000412309	NM_022349.3			0	not done		synonymous	
MS4A7		inserm.fr	GRCh37	11	60156927	60156927	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC433T									Valid												ENST00000300184.3:c.404T>G	p.Leu135Arg	p.L135R	ENST00000300184	NM_206939.1	135	cTt/cGt	0	validated		probablydamaging	
MS4A14		inserm.fr	GRCh37	11	60183231	60183231	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC879T																					ENST00000531783.1:c.889T>G	p.Ser297Ala	p.S297A	ENST00000531783	NM_001261828.1	297	Tcc/Gcc	0	not done		benign	
RTN1		inserm.fr	GRCh37	14	60212524	60212524	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC432T																					ENST00000267484.5:c.917T>C	p.Ile306Thr	p.I306T	ENST00000267484	NM_021136.2	306	aTa/aCa	0	not done		benign	
MS4A12		inserm.fr	GRCh37	11	60268597	60268597	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1201T																					ENST00000016913.4:c.356T>G	p.Val119Gly	p.V119G	ENST00000016913	NM_017716.2	119	gTa/gGa	0	not done		probablydamaging	
C1orf87		inserm.fr	GRCh37	1	60506661	60506661	+	splice_donor_variant	Splice_Site	SNP	A	G	G			CHC2141T																					ENST00000371201.3:c.483+2T>C		p.X161_splice	ENST00000371201	NM_152377.2			0	not done		damaging	
PHLPP1		inserm.fr	GRCh37	18	60527720	60527720	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1715T																					ENST00000262719.5:c.1952A>G	p.His651Arg	p.H651R	ENST00000262719		651	cAt/cGt	0	not done		benign	
BICC1		inserm.fr	GRCh37	10	60559984	60559984	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM337T																					ENST00000373886.3:c.1756A>G	p.Thr586Ala	p.T586A	ENST00000373886	NM_001080512.1	586	Act/Gct	0	validated		benign	
AIMP2		inserm.fr	GRCh37	7	6057645	6057645	+	stop_gained	Nonsense_Mutation	SNP	T	G	G			CHC051T									Valid												ENST00000223029.3:c.543T>G	p.Tyr181Ter	p.Y181*	ENST00000223029	NM_006303.3	181	taT/taG	0	validated		damaging	
DIAPH3		inserm.fr	GRCh37	13	60590247	60590247	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1743T																					ENST00000400324.4:c.659G>C	p.Gly220Ala	p.G220A	ENST00000400324	NM_001042517.1	220	gGa/gCa	0	not done		probablydamaging	
PCNXL4		inserm.fr	GRCh37	14	60591578	60591578	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1736T																					ENST00000317623.4:c.1987A>G	p.Ile663Val	p.I663V	ENST00000317623	NM_022495.5	663	Att/Gtt	0	not done		benign	
VWF		inserm.fr	GRCh37	12	6062743	6062743	+	synonymous_variant	Silent	SNP	A	G	G			CHC1148T																					ENST00000261405.5:c.7905T>C	p.Asn2635=	p.N2635=	ENST00000261405	NM_000552.3	2635	aaT/aaC	0	not done		synonymous	
BCL11A		inserm.fr	GRCh37	2	60688526	60688526	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2029T																					ENST00000335712.6:c.1521G>C	p.Glu507Asp	p.E507D	ENST00000335712	NM_022893.3	507	gaG/gaC	0	not done		probablydamaging	
BCL11A		inserm.fr	GRCh37	2	60688657	60688657	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1148T																					ENST00000335712.6:c.1390A>C	p.Lys464Gln	p.K464Q	ENST00000335712	NM_022893.3	464	Aag/Cag	0	not done		possiblydamaging	
NLGN4X		inserm.fr	GRCh37	X	6069471	6069471	+	synonymous_variant	Silent	SNP	A	G	G			CHC1744T																					ENST00000381095.3:c.37T>C	p.Leu13=	p.L13=	ENST00000381095	NM_181332.1	13	Ttg/Ctg	0	not done		synonymous	
SLC15A3		inserm.fr	GRCh37	11	60704770	60704770	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1545T																					ENST00000227880.3:c.1667T>C	p.Phe556Ser	p.F556S	ENST00000227880	NM_016582.2	556	tTt/tCt	0	not done		possiblydamaging	
SS18L1		inserm.fr	GRCh37	20	60737846	60737846	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC303T																					ENST00000331758.3:c.415A>G	p.Thr139Ala	p.T139A	ENST00000331758	NM_198935.1	139	Acg/Gcg	0	validated		probablydamaging	
MRC2		inserm.fr	GRCh37	17	60744211	60744211	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1545T																					ENST00000303375.5:c.953A>G	p.Lys318Arg	p.K318R	ENST00000303375	NM_006039.4	318	aAg/aGg	0	not done		probablydamaging	
RORA		inserm.fr	GRCh37	15	60849095	60849095	+	synonymous_variant	Silent	SNP	A	G	G			CHC303T																					ENST00000261523.5:c.252T>C	p.Tyr84=	p.Y84=	ENST00000261523	NM_134260.2	84	taT/taC	0	validated		synonymous	
LAMA5		inserm.fr	GRCh37	20	60886346	60886346	+	synonymous_variant	Silent	SNP	A	G	G			BCB301T																					ENST00000252999.3:c.9960T>C	p.Arg3320=	p.R3320=	ENST00000252999	NM_005560.4	3320	cgT/cgC	0	validated		synonymous	
PHRF1		inserm.fr	GRCh37	11	609109	609109	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC059T																					ENST00000416188.2:c.3650C>G	p.Thr1217Ser	p.T1217S	ENST00000416188		1217	aCc/aGc	0	validated		benign	
PHYHIPL		inserm.fr	GRCh37	10	61005035	61005035	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1052T									Valid												ENST00000373880.4:c.815A>G	p.Tyr272Cys	p.Y272C	ENST00000373880	NM_032439.3	272	tAc/tGc	0	validated		probablydamaging	
TDRD3		inserm.fr	GRCh37	13	61103302	61103302	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCB325T																					ENST00000535286.1:c.1943T>G	p.Met648Arg	p.M648R	ENST00000535286	NM_001146070.1	648	aTg/aGg	0	validated		benign	
PEX13		inserm.fr	GRCh37	2	61258687	61258687	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC898T																					ENST00000295030.5:c.226A>G	p.Ser76Gly	p.S76G	ENST00000295030	NM_002618.3	76	Agt/Ggt	0	not done		benign	
SERPINB13		inserm.fr	GRCh37	18	61259703	61259703	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1010T																					ENST00000344731.5:c.347T>G	p.Phe116Cys	p.F116C	ENST00000344731	NM_012397.3	116	tTc/tGc	0	not done		probablydamaging	
SERPINB13		inserm.fr	GRCh37	18	61264307	61264307	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2110Tbis																					ENST00000344731.5:c.886C>G	p.Leu296Val	p.L296V	ENST00000344731	NM_012397.3	296	Cta/Gta	0	not done		probablydamaging	
SANBR		inserm.fr	GRCh37	2	61304099	61304099	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC314T									Valid												ENST00000402291.1:c.476A>G	p.Lys159Arg	p.K159R	ENST00000402291	NM_001129993.1	159	aAa/aGa	0	validated		probablydamaging	
SLC38A6		inserm.fr	GRCh37	14	61518838	61518838	+	synonymous_variant	Silent	SNP	A	G	G			CHC1744T																					ENST00000354886.2:c.1275A>G	p.Ser425=	p.S425=	ENST00000354886	NM_001172702.1	425	tcA/tcG	0	not done		synonymous	
DIDO1		inserm.fr	GRCh37	20	61525160	61525160	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1207T																					ENST00000266070.4:c.2959G>C	p.Asp987His	p.D987H	ENST00000266070	NM_033081.2	987	Gac/Cac	0	not done		benign	
SLC17A9		inserm.fr	GRCh37	20	61598751	61598751	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1741T																					ENST00000370351.4:c.1210T>G	p.Phe404Val	p.F404V	ENST00000370351	NM_022082.3	404	Ttc/Gtc	0	not done		probablydamaging	
CHD7		inserm.fr	GRCh37	8	61655115	61655115	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000423902.2:c.1124A>G	p.Gln375Arg	p.Q375R	ENST00000423902	NM_017780.3	375	cAa/cGa	0	not done		probablydamaging	
DCAF7		inserm.fr	GRCh37	17	61657264	61657264	+	intron_variant	Intron	SNP	C	G	G			CHC1629T																					ENST00000415273.2:c.139-5309C>G		*47*	ENST00000415273				0	not done		possiblydamaging	
TMEM30B		inserm.fr	GRCh37	14	61747314	61747314	+	synonymous_variant	Silent	SNP	C	G	G			BCM703T																					ENST00000555868.1:c.552G>C	p.Gly184=	p.G184=	ENST00000555868	NM_001017970.2	184	ggG/ggC	0	validated		synonymous	
STRADA		inserm.fr	GRCh37	17	61784056	61784056	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC121T									Valid												ENST00000336174.6:c.797G>C	p.Gly266Ala	p.G266A	ENST00000336174	NM_001003787.2	266	gGa/gCa	0	validated		probablydamaging	
F13A1		inserm.fr	GRCh37	6	6182252	6182252	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2200T																					ENST00000264870.3:c.1428G>C	p.Met476Ile	p.M476I	ENST00000264870	NM_000129.3	476	atG/atC	0	not done		benign	
ANK3		inserm.fr	GRCh37	10	61844378	61844378	+	synonymous_variant	Silent	SNP	T	G	G			CHC1720T																					ENST00000280772.2:c.4056A>C	p.Ala1352=	p.A1352=	ENST00000280772	NM_020987.3	1352	gcA/gcC	0	not done		synonymous	
CDH8		inserm.fr	GRCh37	16	61855012	61855012	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC429T									Valid												ENST00000577390.1:c.841T>C	p.Tyr281His	p.Y281H	ENST00000577390	NM_001796.4	281	Tat/Cat	0	validated		probablydamaging	
FTSJ3		inserm.fr	GRCh37	17	61897207	61897207	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1715T																					ENST00000427159.2:c.2499A>C	p.Arg833Ser	p.R833S	ENST00000427159	NM_017647.3	833	agA/agC	0	not done		probablydamaging	
OR52B2		inserm.fr	GRCh37	11	6191235	6191235	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1736T																					ENST00000530810.1:c.322A>C	p.Met108Leu	p.M108L	ENST00000530810	NM_001004052.1	108	Atg/Ctg	0	not done		benign	
CSH2		inserm.fr	GRCh37	17	61949509	61949509	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC313T																					ENST00000392886.2:c.631G>C	p.Val211Leu	p.V211L	ENST00000392886	NM_020991.3	211	Gta/Cta	0	validated		possiblydamaging	
COL20A1		inserm.fr	GRCh37	20	61952377	61952377	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM703T																					ENST00000358894.6:c.3166A>G	p.Thr1056Ala	p.T1056A	ENST00000358894	NM_020882.2	1056	Acc/Gcc	0	validated		possiblydamaging	
ANK3		inserm.fr	GRCh37	10	62021650	62021650	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC879T																					ENST00000280772.2:c.765A>C	p.Leu255Phe	p.L255F	ENST00000280772	NM_020987.3	255	ttA/ttC	0	not done		probablydamaging	
CCT4		inserm.fr	GRCh37	2	62095837	62095837	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC798T																					ENST00000394440.3:c.1610A>C	p.Asn537Thr	p.N537T	ENST00000394440	NM_006430.3	537	aAc/aCc	0	validated		benign	
EEF1A2		inserm.fr	GRCh37	20	62121876	62121876	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1747T																					ENST00000217182.3:c.985A>C	p.Ser329Arg	p.S329R	ENST00000217182	NM_001958.3	329	Agc/Cgc	0	not done		probablydamaging	
HELZ2		inserm.fr	GRCh37	20	62195218	62195218	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000467148.1:c.4957G>C	p.Gly1653Arg	p.G1653R	ENST00000467148	NM_001037335.2	1653	Ggc/Cgc	0	not done		possiblydamaging	
VWF		inserm.fr	GRCh37	12	6220096	6220096	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1154T																					ENST00000261405.5:c.259T>C	p.Tyr87His	p.Y87H	ENST00000261405	NM_000552.3	87	Tat/Cat	0	not done		probablydamaging	
HIF1A		inserm.fr	GRCh37	14	62203689	62203689	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC801T																					ENST00000539097.1:c.1183A>G	p.Met395Val	p.M395V	ENST00000539097	NM_001243084.1	395	Atg/Gtg	0	not done		probablydamaging	
AHNAK		inserm.fr	GRCh37	11	62286071	62286071	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC609T									Valid												ENST00000378024.4:c.15818T>C	p.Leu5273Pro	p.L5273P	ENST00000378024	NM_001620.2	5273	cTc/cCc	0	validated		probablydamaging	
TUT1		inserm.fr	GRCh37	11	62344430	62344430	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1085T																					ENST00000308436.7:c.1444A>C	p.Thr482Pro	p.T482P	ENST00000308436	NM_022830.2	482	Acc/Ccc	0	validated		probablydamaging	
C11orf83		inserm.fr	GRCh37	11	62439312	62439312	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM543T																					ENST00000531323.1:c.95A>G	p.Glu32Gly	p.E32G	ENST00000531323		32	gAg/gGg	0	validated		probablydamaging	
CADPS		inserm.fr	GRCh37	3	62459873	62459873	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1720T																					ENST00000383710.4:c.3452T>C	p.Leu1151Pro	p.L1151P	ENST00000383710	NM_003716.3	1151	cTt/cCt	0	not done		probablydamaging	
TPD52L2		inserm.fr	GRCh37	20	62521379	62521379	+	3_prime_UTR_variant	3'UTR	SNP	C	G	G			CHC889T																					ENST00000217121.5:c.*81C>G		*27*	ENST00000217121	NM_199360.2			0	not done			
UCKL1		inserm.fr	GRCh37	20	62572166	62572166	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1715T																					ENST00000354216.6:c.1160A>C	p.Lys387Thr	p.K387T	ENST00000354216	NM_017859.3	387	aAg/aCg	0	not done		benign	
ASPH		inserm.fr	GRCh37	8	62577855	62577855	+	intron_variant	Intron	SNP	T	G	G			CHC1624T																					ENST00000379454.4:c.323-11636A>C		*108*	ENST00000379454	NM_004318.3			0	validated			
INADL		inserm.fr	GRCh37	1	62588701	62588701	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000371158.2:c.5014A>G	p.Met1672Val	p.M1672V	ENST00000371158	NM_176877.2	1672	Atg/Gtg	0	validated		benign	
WDR74		inserm.fr	GRCh37	11	62606991	62606991	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC253T									Valid												ENST00000525239.1:c.52G>C	p.Gly18Arg	p.G18R	ENST00000525239		18	Ggg/Cgg	0	validated		probablydamaging	
PIGQ		inserm.fr	GRCh37	16	626135	626135	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC2127T																					ENST00000026218.5:c.823A>G	p.Lys275Glu	p.K275E	ENST00000026218	NM_148920.2	275	Aag/Gag	0	not done		probablydamaging	
PFKFB3		inserm.fr	GRCh37	10	6261583	6261583	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1742T																					ENST00000379775.4:c.550A>G	p.Met184Val	p.M184V	ENST00000379775	NM_004566.3	184	Atg/Gtg	0	not done		benign	
PRPF6		inserm.fr	GRCh37	20	62630960	62630960	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000266079.4:c.871A>G	p.Ile291Val	p.I291V	ENST00000266079	NM_012469.3	291	Atc/Gtc	0	validated		benign	
CADPS		inserm.fr	GRCh37	3	62636587	62636587	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC437T																					ENST00000383710.4:c.1138G>C	p.Asp380His	p.D380H	ENST00000383710	NM_003716.3	380	Gac/Cac	0	not done		probablydamaging	
RHOBTB1		inserm.fr	GRCh37	10	62648171	62648171	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC465T									Valid												ENST00000337910.5:c.1255T>C	p.Tyr419His	p.Y419H	ENST00000337910	NM_001242359.1	419	Tat/Cat	0	validated		probablydamaging	
CHRM1		inserm.fr	GRCh37	11	62677592	62677592	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC437T																					ENST00000306960.3:c.981G>C	p.Lys327Asn	p.K327N	ENST00000306960	NM_000738.2	327	aaG/aaC	0	not done		possiblydamaging	
SLC22A6		inserm.fr	GRCh37	11	62744299	62744299	+	synonymous_variant	Silent	SNP	C	G	G			BCM439T																					ENST00000377871.3:c.1659G>C	p.Leu553=	p.L553=	ENST00000377871	NM_153278.2	553	ctG/ctC	0	validated		synonymous	
SLC22A6		inserm.fr	GRCh37	11	62751980	62751980	+	synonymous_variant	Silent	SNP	C	G	G			BCM703T																					ENST00000377871.3:c.183G>C	p.Gly61=	p.G61=	ENST00000377871	NM_153278.2	61	ggG/ggC	0	validated		synonymous	
USP15		inserm.fr	GRCh37	12	62785010	62785010	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1010T																					ENST00000280377.5:c.2034T>G	p.Ser678Arg	p.S678R	ENST00000280377	NM_001252078.1	678	agT/agG	0	not done		possiblydamaging	
LPHN3		inserm.fr	GRCh37	4	62800651	62800651	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1746T																					ENST00000514591.1:c.2002A>G	p.Met668Val	p.M668V	ENST00000514591		668	Atg/Gtg	0	not done		benign	
LRRC37A3		inserm.fr	GRCh37	17	62856193	62856193	+	synonymous_variant	Silent	SNP	C	G	G			CHC060T																					ENST00000584306.1:c.4071G>C	p.Gly1357=	p.G1357=	ENST00000584306	NM_199340.2	1357	ggG/ggC	0	validated		synonymous	
PCMTD2		inserm.fr	GRCh37	20	62895865	62895865	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1747T																					ENST00000308824.6:c.391A>G	p.Thr131Ala	p.T131A	ENST00000308824	NM_018257.2	131	Aca/Gca	0	not done		benign	
MON2		inserm.fr	GRCh37	12	62926423	62926423	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM399T																					ENST00000393632.2:c.1606A>G	p.Thr536Ala	p.T536A	ENST00000393632	NM_001278472.1	536	Aca/Gca	0	validated		benign	
CCKBR		inserm.fr	GRCh37	11	6292644	6292644	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC609T																					ENST00000334619.2:c.1215C>G	p.Cys405Trp	p.C405W	ENST00000334619	NM_176875.3	405	tgC/tgG	0	validated		probablydamaging	
SLC22A25		inserm.fr	GRCh37	11	62931452	62931452	+	synonymous_variant	Silent	SNP	C	G	G			CHC306T																					ENST00000306494.6:c.1488G>C	p.Leu496=	p.L496=	ENST00000306494	NM_199352.3	496	ctG/ctC	0	validated		synonymous	
EHBP1		inserm.fr	GRCh37	2	63176084	63176084	+	synonymous_variant	Silent	SNP	A	G	G			CHC1751T																					ENST00000263991.5:c.2208A>G	p.Lys736=	p.K736=	ENST00000263991	NM_015252.3	736	aaA/aaG	0	not done		synonymous	
KCNH5		inserm.fr	GRCh37	14	63246477	63246477	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1035T																					ENST00000322893.7:c.1988A>C	p.Asn663Thr	p.N663T	ENST00000322893	NM_139318.4	663	aAt/aCt	0	validated		possiblydamaging	
AIPL1		inserm.fr	GRCh37	17	6329135	6329135	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1186T																					ENST00000381129.3:c.800A>C	p.Tyr267Ser	p.Y267S	ENST00000381129	NM_014336.3	267	tAc/tCc	0	not done		probablydamaging	
CLUL1		inserm.fr	GRCh37	18	633410	633410	+	synonymous_variant	Silent	SNP	A	G	G			CHC1626T																					ENST00000400606.2:c.969A>G	p.Gln323=	p.Q323=	ENST00000400606	NM_014410.4	323	caA/caG	0	not done		synonymous	
PRKCDBP		inserm.fr	GRCh37	11	6340474	6340474	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC097T																					ENST00000303927.3:c.705G>C	p.Glu235Asp	p.E235D	ENST00000303927	NM_145040.2	235	gaG/gaC	0	not done		benign	
LACTB		inserm.fr	GRCh37	15	63419836	63419836	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1601T																					ENST00000261893.4:c.900T>G	p.Asn300Lys	p.N300K	ENST00000261893	NM_032857.3	300	aaT/aaG	0	not done		benign	
NAA40		inserm.fr	GRCh37	11	63713394	63713394	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2141T																					ENST00000377793.4:c.89A>G	p.Asp30Gly	p.D30G	ENST00000377793	NM_024771.2	30	gAc/gGc	0	not done		probablydamaging	
RHOJ		inserm.fr	GRCh37	14	63757734	63757734	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000316754.3:c.637A>G	p.Ile213Val	p.I213V	ENST00000316754	NM_020663.4	213	Att/Gtt	0	not done		benign	
OTUB1		inserm.fr	GRCh37	11	63765011	63765011	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1747T																					ENST00000538426.1:c.809A>G	p.Tyr270Cys	p.Y270C	ENST00000538426	NM_017670.2	270	tAc/tGc	0	not done		probablydamaging	
ANGPT2		inserm.fr	GRCh37	8	6385074	6385074	+	splice_donor_variant	Splice_Site	SNP	A	G	G			CHC892T																					ENST00000325203.5:c.566+2T>C		p.X189_splice	ENST00000325203				0	not done		damaging	
HERC1		inserm.fr	GRCh37	15	63916477	63916477	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC433T									Valid												ENST00000443617.2:c.13325A>C	p.Gln4442Pro	p.Q4442P	ENST00000443617	NM_003922.3	4442	cAa/cCa	0	validated		probablydamaging	
ATXN7		inserm.fr	GRCh37	3	63975960	63975960	+	synonymous_variant	Silent	SNP	A	G	G			CHC320T																					ENST00000398590.3:c.1470A>G	p.Leu490=	p.L490=	ENST00000398590	NM_001177387.1	490	ttA/ttG	0	validated		synonymous	
EFCAB7		inserm.fr	GRCh37	1	63999843	63999843	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1741T																					ENST00000371088.4:c.760A>G	p.Asn254Asp	p.N254D	ENST00000371088	NM_032437.2	254	Aat/Gat	0	not done		benign	
PLCB3		inserm.fr	GRCh37	11	64028894	64028894	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1616T																					ENST00000540288.1:c.1754A>G	p.Asn585Ser	p.N585S	ENST00000540288	NM_000932.2	585	aAt/aGt	0	not done		benign	
GPR137		inserm.fr	GRCh37	11	64056094	64056094	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM671T																					ENST00000411458.1:c.1106A>G	p.Asn369Ser	p.N369S	ENST00000411458	NM_001170726.1	369	aAt/aGt	0	validated		benign	
HERC1		inserm.fr	GRCh37	15	64056295	64056295	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC2052T																					ENST00000443617.2:c.1026G>C	p.Glu342Asp	p.E342D	ENST00000443617	NM_003922.3	342	gaG/gaC	0	not done		probablydamaging	
CEP72		inserm.fr	GRCh37	5	640566	640566	+	synonymous_variant	Silent	SNP	A	G	G			CHC1594T																					ENST00000264935.5:c.1386A>G	p.Ala462=	p.A462=	ENST00000264935	NM_018140.3	462	gcA/gcG	0	not done		synonymous	
VPS54		inserm.fr	GRCh37	2	64126619	64126619	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCB307T																					ENST00000272322.4:c.2722G>C	p.Glu908Gln	p.E908Q	ENST00000272322		908	Gaa/Caa	0	validated		probablydamaging	
VPS54		inserm.fr	GRCh37	2	64139774	64139774	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2127T																					ENST00000272322.4:c.2444A>C	p.Gln815Pro	p.Q815P	ENST00000272322		815	cAg/cCg	0	not done		probablydamaging	
KHSRP		inserm.fr	GRCh37	19	6416761	6416761	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000398148.3:c.1315G>C	p.Val439Leu	p.V439L	ENST00000398148	NM_003685.2	439	Gtc/Ctc	0	not done		probablydamaging	
ZNF107		inserm.fr	GRCh37	7	64168489	64168489	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000395391.1:c.1807A>G	p.Thr603Ala	p.T603A	ENST00000395391		603	Act/Gct	0	validated		benign	
TMEM5		inserm.fr	GRCh37	12	64202588	64202588	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1545T																					ENST00000261234.6:c.1048A>G	p.Ile350Val	p.I350V	ENST00000261234	NM_014254.2	350	Att/Gtt	0	not done		benign	
PTP4A1		inserm.fr	GRCh37	6	64290071	64290071	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2352T																					ENST00000370651.3:c.514A>G	p.Ile172Val	p.I172V	ENST00000370651	NM_003463.4	172	Att/Gtt	0	not done		benign	
ZNF365		inserm.fr	GRCh37	10	64415327	64415327	+	intron_variant	Intron	SNP	A	G	G			CHC909T																					ENST00000410046.3:c.1130-829A>G		*377*	ENST00000410046	NM_199451.2			0	not done		synonymous	
RAC1		inserm.fr	GRCh37	7	6441628	6441628	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC432T																					ENST00000356142.4:c.475C>G	p.Pro159Ala	p.P159A	ENST00000356142	NM_018890.3	159	Ccg/Gcg	0	not done		benign	
PHF3		inserm.fr	GRCh37	6	64419118	64419118	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1744T																					ENST00000262043.3:c.3783A>G	p.Ile1261Met	p.I1261M	ENST00000262043		1261	atA/atG	0	not done		possiblydamaging	
PPIB		inserm.fr	GRCh37	15	64452342	64452342	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM617T																					ENST00000300026.3:c.304A>C	p.Ile102Leu	p.I102L	ENST00000300026	NM_000942.4	102	Atc/Ctc	0	validated		benign	
SYNE2		inserm.fr	GRCh37	14	64486777	64486777	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2043T																					ENST00000358025.3:c.5117T>G	p.Leu1706Trp	p.L1706W	ENST00000358025	NM_182914.2	1706	tTg/tGg	0	not done		probablydamaging	
SYNE2		inserm.fr	GRCh37	14	64519238	64519238	+	synonymous_variant	Silent	SNP	A	G	G			CHC1708T																					ENST00000358025.3:c.8607A>G	p.Glu2869=	p.E2869=	ENST00000358025	NM_182914.2	2869	gaA/gaG	0	not done		synonymous	
VCX3A		inserm.fr	GRCh37	X	6451946	6451946	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC326T																					ENST00000381089.3:c.401T>C	p.Leu134Pro	p.L134P	ENST00000381089	NM_016379.3	134	cTg/cCg	0	validated		probablydamaging	
SYNE2		inserm.fr	GRCh37	14	64522932	64522932	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1757T																					ENST00000358025.3:c.10015A>G	p.Lys3339Glu	p.K3339E	ENST00000358025	NM_182914.2	3339	Aag/Gag	0	not done		possiblydamaging	
EGR2		inserm.fr	GRCh37	10	64574194	64574194	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM735T									Valid												ENST00000242480.3:c.204G>C	p.Lys68Asn	p.K68N	ENST00000242480	NM_001136177.1	68	aaG/aaC	0	validated		probablydamaging	
MEN1		inserm.fr	GRCh37	11	64575541	64575541	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1604T																					ENST00000337652.1:c.491T>C	p.Phe164Ser	p.F164S	ENST00000337652	NM_130803.2	164	tTt/tCt	0	not done		probablydamaging	
CDC42BPG		inserm.fr	GRCh37	11	64601927	64601927	+	synonymous_variant	Silent	SNP	C	G	G			CHC253T																					ENST00000342711.5:c.2298G>C	p.Val766=	p.V766=	ENST00000342711	NM_017525.2	766	gtG/gtC	0	validated		synonymous	
ADAMTS9		inserm.fr	GRCh37	3	64619549	64619549	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1185T																					ENST00000498707.1:c.1863A>C	p.Lys621Asn	p.K621N	ENST00000498707	NM_182920.1	621	aaA/aaC	0	not done		benign	
HPX		inserm.fr	GRCh37	11	6462116	6462116	+	synonymous_variant	Silent	SNP	A	G	G			BCM617T																					ENST00000265983.3:c.78T>C	p.Leu26=	p.L26=	ENST00000265983	NM_000613.2	26	ctT/ctC	0	validated		synonymous	
SYNE2		inserm.fr	GRCh37	14	64692130	64692130	+	synonymous_variant	Silent	SNP	C	G	G			BCM337T																					ENST00000358025.3:c.20610C>G	p.Leu6870=	p.L6870=	ENST00000358025	NM_182914.2	6870	ctC/ctG	0	validated		synonymous	
BATF2		inserm.fr	GRCh37	11	64764386	64764386	+	start_lost	Translation_Start_Site	SNP	T	G	G			CHC1052T									Valid												ENST00000301887.4:c.1A>C	p.Met1?	p.M1?	ENST00000301887	NM_138456.3	1	Atg/Ctg	0	validated		probablydamaging	
TRIM3		inserm.fr	GRCh37	11	6477923	6477923	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1211T																					ENST00000525074.1:c.1033G>C	p.Val345Leu	p.V345L	ENST00000525074	NM_001248006.1	345	Gtc/Ctc	0	not done		benign	
PRKCA		inserm.fr	GRCh37	17	64783029	64783029	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1148T																					ENST00000413366.3:c.1650C>G	p.Ile550Met	p.I550M	ENST00000413366	NM_002737.2	550	atC/atG	0	not done		probablydamaging	
EYS		inserm.fr	GRCh37	6	64791781	64791781	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM423T																					ENST00000503581.1:c.6539A>C	p.Lys2180Thr	p.K2180T	ENST00000503581	NM_001142800.1	2180	aAa/aCa	0	validated		possiblydamaging	
AFTPH		inserm.fr	GRCh37	2	64800173	64800173	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC892T																					ENST00000238855.7:c.2365A>G	p.Met789Val	p.M789V	ENST00000238855	NM_203437.3	789	Atg/Gtg	0	not done		benign	
NAALADL1		inserm.fr	GRCh37	11	64822069	64822069	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC805T																					ENST00000358658.3:c.745T>C	p.Tyr249His	p.Y249H	ENST00000358658	NM_005468.2	249	Tac/Cac	0	not done		probablydamaging	
ZFPL1		inserm.fr	GRCh37	11	64853965	64853965	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC796T									Valid												ENST00000294258.3:c.293C>G	p.Pro98Arg	p.P98R	ENST00000294258	NM_006782.3	98	cCc/cGc	0	validated		probablydamaging	
JMJD1C		inserm.fr	GRCh37	10	64936106	64936106	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1725T																					ENST00000399262.2:c.7352T>C	p.Ile2451Thr	p.I2451T	ENST00000399262	NM_032776.1	2451	aTt/aCt	0	not done		benign	
ZNF609		inserm.fr	GRCh37	15	64966378	64966378	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB307T																					ENST00000326648.3:c.1325A>G	p.Asn442Ser	p.N442S	ENST00000326648	NM_015042.1	442	aAc/aGc	0	validated		benign	
JMJD1C		inserm.fr	GRCh37	10	64966629	64966629	+	synonymous_variant	Silent	SNP	A	G	G			CHC1616T																					ENST00000399262.2:c.4800T>C	p.Ser1600=	p.S1600=	ENST00000399262	NM_032776.1	1600	agT/agC	0	not done		synonymous	
GEMIN4		inserm.fr	GRCh37	17	649719	649719	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB231T																					ENST00000319004.5:c.1564T>C	p.Phe522Leu	p.F522L	ENST00000319004	NM_015721.2	522	Ttt/Ctt	0	validated		benign	
ZNF609		inserm.fr	GRCh37	15	64972429	64972429	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1566T																					ENST00000326648.3:c.3815A>G	p.Lys1272Arg	p.K1272R	ENST00000326648	NM_015042.1	1272	aAg/aGg	0	not done		probablydamaging	
CAPN1		inserm.fr	GRCh37	11	64978330	64978330	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC801T																					ENST00000527323.1:c.2105T>G	p.Phe702Cys	p.F702C	ENST00000527323		702	tTt/tGt	0	not done		possiblydamaging	
ZBTB1		inserm.fr	GRCh37	14	64989362	64989362	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB325T																					ENST00000394712.2:c.1140A>G	p.Ile380Met	p.I380M	ENST00000394712	NM_001123329.1	380	atA/atG	0	validated		benign	
ARFIP2		inserm.fr	GRCh37	11	6499281	6499281	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC614T									Valid												ENST00000254584.2:c.685G>C	p.Glu229Gln	p.E229Q	ENST00000254584	NM_012402.3	229	Gag/Cag	0	validated		probablydamaging	
CDH11		inserm.fr	GRCh37	16	65015978	65015978	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1708T																					ENST00000268603.4:c.1226A>C	p.Asp409Ala	p.D409A	ENST00000268603	NM_001797.2	409	gAc/gCc	0	not done		probablydamaging	
TIMM10B		inserm.fr	GRCh37	11	6503040	6503040	+	synonymous_variant	Silent	SNP	C	G	G			CHC1712T																					ENST00000254616.6:c.93C>G	p.Arg31=	p.R31=	ENST00000254616	NM_012192.3	31	cgC/cgG	0	not done		synonymous	
CACHD1		inserm.fr	GRCh37	1	65099812	65099812	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC805T																					ENST00000290039.5:c.722A>G	p.Glu241Gly	p.E241G	ENST00000290039	NM_020925.2	241	gAg/gGg	0	not done		probablydamaging	
NLN		inserm.fr	GRCh37	5	65108161	65108161	+	synonymous_variant	Silent	SNP	A	G	G			CHC1028T																					ENST00000380985.5:c.1923A>G	p.Val641=	p.V641=	ENST00000380985	NM_020726.4	641	gtA/gtG	0	not done		synonymous	
ESPN		inserm.fr	GRCh37	1	6511911	6511911	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2110Tbis																					ENST00000377828.1:c.2080T>G	p.Ser694Ala	p.S694A	ENST00000377828	NM_031475.2	694	Tct/Gct	0	not done		benign	
CACHD1		inserm.fr	GRCh37	1	65141123	65141123	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC437T																					ENST00000290039.5:c.2614A>G	p.Lys872Glu	p.K872E	ENST00000290039	NM_020925.2	872	Aaa/Gaa	0	not done		possiblydamaging	
TBC1D30		inserm.fr	GRCh37	12	65258552	65258552	+	synonymous_variant	Silent	SNP	A	G	G			CHC432T																					ENST00000539867.1:c.1143A>G	p.Ser381=	p.S381=	ENST00000539867	NM_015279.1	381	tcA/tcG	0	not done		synonymous	
TBC1D30		inserm.fr	GRCh37	12	65269155	65269155	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1744T																					ENST00000539867.1:c.1873C>G	p.Pro625Ala	p.P625A	ENST00000539867	NM_015279.1	625	Cct/Gct	0	not done			
EYS		inserm.fr	GRCh37	6	65301542	65301542	+	synonymous_variant	Silent	SNP	T	G	G			CHC1545T																					ENST00000503581.1:c.4218A>C	p.Thr1406=	p.T1406=	ENST00000503581	NM_001142800.1	1406	acA/acC	0	not done		synonymous	
EHBP1L1		inserm.fr	GRCh37	11	65348834	65348834	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC798T																					ENST00000309295.4:c.856C>G	p.Pro286Ala	p.P286A	ENST00000309295	NM_001099409.1	286	Cca/Gca	0	validated		probablydamaging	
ERBB2IP		inserm.fr	GRCh37	5	65370865	65370865	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1191T																					ENST00000506030.1:c.3791A>G	p.Asn1264Ser	p.N1264S	ENST00000506030		1264	aAt/aGt	0	not done		probablydamaging	
GRID2IP		inserm.fr	GRCh37	7	6542646	6542646	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM483T									Valid												ENST00000457091.2:c.3056T>C	p.Ile1019Thr	p.I1019T	ENST00000457091	NM_001145118.1	1019	aTc/aCc	0	validated		probablydamaging	
BHLHE22		inserm.fr	GRCh37	8	65494014	65494014	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM543T																					ENST00000321870.1:c.667A>G	p.Ser223Gly	p.S223G	ENST00000321870	NM_152414.4	223	Agc/Ggc	0	validated		benign	
DNHD1		inserm.fr	GRCh37	11	6566663	6566663	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2127T																					ENST00000254579.6:c.4494C>G	p.His1498Gln	p.H1498Q	ENST00000254579	NM_144666.2	1498	caC/caG	0	not done		benign	
IGDCC4		inserm.fr	GRCh37	15	65684309	65684309	+	synonymous_variant	Silent	SNP	C	G	G			CHC1715T																					ENST00000352385.2:c.2133G>C	p.Arg711=	p.R711=	ENST00000352385	NM_020962.1	711	cgG/cgC	0	not done		synonymous	
NOL11		inserm.fr	GRCh37	17	65714074	65714074	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC798T									Valid												ENST00000253247.4:c.11T>G	p.Leu4Arg	p.L4R	ENST00000253247	NM_015462.3	4	cTg/cGg	0	validated		probablydamaging	
NOL11		inserm.fr	GRCh37	17	65714077	65714077	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC798T									Valid												ENST00000253247.4:c.14A>G	p.Glu5Gly	p.E5G	ENST00000253247	NM_015462.3	5	gAg/gGg	0	validated		probablydamaging	
BPTF		inserm.fr	GRCh37	17	65850085	65850085	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC703T																					ENST00000306378.6:c.643C>G	p.Arg215Gly	p.R215G	ENST00000306378	NM_182641.3	215	Cgt/Ggt	0	validated		probablydamaging	
BPTF		inserm.fr	GRCh37	17	65916255	65916255	+	synonymous_variant	Silent	SNP	A	G	G			CHC2029T																					ENST00000306378.6:c.5553A>G	p.Pro1851=	p.P1851=	ENST00000306378	NM_182641.3	1851	ccA/ccG	0	not done		synonymous	
NCAPD2		inserm.fr	GRCh37	12	6604371	6604371	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM783T																					ENST00000315579.5:c.107A>G	p.His36Arg	p.H36R	ENST00000315579	NM_014865.3	36	cAt/cGt	0	validated		probablydamaging	
CD248		inserm.fr	GRCh37	11	66082978	66082978	+	synonymous_variant	Silent	SNP	T	G	G			BCB301T																					ENST00000311330.3:c.1521A>C	p.Ala507=	p.A507=	ENST00000311330	NM_020404.2	507	gcA/gcC	0	validated		synonymous	
B3GNT1		inserm.fr	GRCh37	11	66114716	66114716	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2115T																					ENST00000311181.4:c.301G>C	p.Ala101Pro	p.A101P	ENST00000311181	NM_006876.2	101	Gcc/Ccc	0	not done		probablydamaging	
EYS		inserm.fr	GRCh37	6	66204773	66204773	+	synonymous_variant	Silent	SNP	A	G	G			CHC327T																					ENST00000503581.1:c.531T>C	p.Ser177=	p.S177=	ENST00000503581	NM_001142800.1	177	tcT/tcC	0	validated		synonymous	
ZDHHC24		inserm.fr	GRCh37	11	66311328	66311328	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1182T																					ENST00000310442.3:c.406T>C	p.Tyr136His	p.Y136H	ENST00000310442	NM_207340.1	136	Tac/Cac	0	not done		probablydamaging	
TAS1R1		inserm.fr	GRCh37	1	6636500	6636500	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1192T																					ENST00000333172.6:c.1286A>G	p.His429Arg	p.H429R	ENST00000333172	NM_138697.3	429	cAt/cGt	0	not done		benign	
CCS		inserm.fr	GRCh37	11	66373210	66373210	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2351T																					ENST00000533244.1:c.709T>G	p.Phe237Val	p.F237V	ENST00000533244	NM_005125.1	237	Ttc/Gtc	0	not done		probablydamaging	
MAST4		inserm.fr	GRCh37	5	66391445	66391445	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1180T																					ENST00000403625.2:c.854C>G	p.Ser285Trp	p.S285W	ENST00000403625	NM_001164664.1	285	tCg/tGg	0	validated		probablydamaging	
MAST4		inserm.fr	GRCh37	5	66400197	66400197	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1568T																					ENST00000403625.2:c.1150A>G	p.Thr384Ala	p.T384A	ENST00000403625	NM_001164664.1	384	Aca/Gca	0	not done		probablydamaging	
MAST4		inserm.fr	GRCh37	5	66414510	66414510	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000403625.2:c.1592A>G	p.Glu531Gly	p.E531G	ENST00000403625	NM_001164664.1	531	gAa/gGa	0	not done		damaging	
WIPI1		inserm.fr	GRCh37	17	66432619	66432619	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	G	G			CHC889T																					ENST00000262139.5:c.432T>C	p.Gly144=	p.G144=	ENST00000262139	NM_017983.5	144	ggT/ggC	0	not done		possiblydamaging	
SPTBN2		inserm.fr	GRCh37	11	66466143	66466143	+	synonymous_variant	Silent	SNP	A	G	G			CHC432T																					ENST00000533211.1:c.3981T>C	p.Ala1327=	p.A1327=	ENST00000533211		1327	gcT/gcC	0	not done		synonymous	
DCHS1		inserm.fr	GRCh37	11	6651418	6651418	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM275T									Valid												ENST00000299441.3:c.4607T>C	p.Val1536Ala	p.V1536A	ENST00000299441	NM_003737.2	1536	gTc/gCc	0	validated		probablydamaging	
DIS3L		inserm.fr	GRCh37	15	66607535	66607535	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC451T																					ENST00000319212.4:c.976A>G	p.Ser326Gly	p.S326G	ENST00000319212	NM_001143688.1	326	Agt/Ggt	0	validated		benign	
DIS3L		inserm.fr	GRCh37	15	66615136	66615136	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC314T																					ENST00000319212.4:c.1438A>G	p.Lys480Glu	p.K480E	ENST00000319212	NM_001143688.1	480	Aaa/Gaa	0	validated		benign	
GRIP1		inserm.fr	GRCh37	12	66773089	66773089	+	synonymous_variant	Silent	SNP	A	G	G			CHC1715T																					ENST00000398016.3:c.2436T>C	p.Tyr812=	p.Y812=	ENST00000398016	NM_021150.3	812	taT/taC	0	not done		synonymous	
CDH16		inserm.fr	GRCh37	16	66944383	66944383	+	synonymous_variant	Silent	SNP	A	G	G			BCM265T																					ENST00000299752.4:c.1947T>C	p.Ser649=	p.S649=	ENST00000299752	NM_001204744.1	649	tcT/tcC	0	validated		synonymous	
CES2		inserm.fr	GRCh37	16	66974180	66974180	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC121T									Valid												ENST00000317091.4:c.671A>G	p.Asp224Gly	p.D224G	ENST00000317091	NM_003869.5	224	gAt/gGt	0	validated		probablydamaging	
ABCA9		inserm.fr	GRCh37	17	66986999	66986999	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1568T																					ENST00000340001.4:c.3816G>C	p.Met1272Ile	p.M1272I	ENST00000340001	NM_080283.3	1272	atG/atC	0	not done		benign	
DNAJC5B		inserm.fr	GRCh37	8	66992748	66992748	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1717T																					ENST00000276570.5:c.470A>G	p.Asp157Gly	p.D157G	ENST00000276570	NM_033105.4	157	gAt/gGt	0	not done		probablydamaging	
ABCA9		inserm.fr	GRCh37	17	67039769	67039769	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCB301T																					ENST00000340001.4:c.661G>C	p.Val221Leu	p.V221L	ENST00000340001	NM_080283.3	221	Gtt/Ctt	0	validated		benign	
RAD9A		inserm.fr	GRCh37	11	67161009	67161009	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC805T																					ENST00000307980.2:c.277A>G	p.Thr93Ala	p.T93A	ENST00000307980	NM_004584.2	93	Acg/Gcg	0	not done		benign	
SGIP1		inserm.fr	GRCh37	1	67184996	67184996	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2052T																					ENST00000371037.4:c.1650C>G	p.Ser550Arg	p.S550R	ENST00000371037	NM_032291.2	550	agC/agG	0	not done		possiblydamaging	
HSF4		inserm.fr	GRCh37	16	67201411	67201411	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC609T																					ENST00000264009.8:c.763C>G	p.His255Asp	p.H255D	ENST00000264009	NM_001040667.2	255	Cac/Gac	0	validated		probablydamaging	
EXOC3L1		inserm.fr	GRCh37	16	67223556	67223556	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM371T																					ENST00000314586.6:c.24G>C	p.Glu8Asp	p.E8D	ENST00000314586	NM_178516.3	8	gaG/gaC	0	validated		possiblydamaging	
CABP2		inserm.fr	GRCh37	11	67289427	67289427	+	synonymous_variant	Silent	SNP	A	G	G			BCM337T																					ENST00000294288.4:c.240T>C	p.Ile80=	p.I80=	ENST00000294288	NM_016366.2	80	atT/atC	0	validated		synonymous	
WDR78		inserm.fr	GRCh37	1	67293545	67293545	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM269T									Valid												ENST00000371026.3:c.2062T>C	p.Cys688Arg	p.C688R	ENST00000371026	NM_024763.4	688	Tgt/Cgt	0	validated		probablydamaging	
PLEKHG4		inserm.fr	GRCh37	16	67322186	67322186	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC314T									Valid												ENST00000360461.5:c.3337A>G	p.Asn1113Asp	p.N1113D	ENST00000360461	NM_001129727.1	1113	Aac/Gac	0	validated		possiblydamaging	
NDUFV1-DT		inserm.fr	GRCh37	11	67372241	67372241	+	synonymous_variant	Silent	SNP	A	G	G			CHC805T																					ENST00000333139.3:c.300T>C	p.Gly100=	p.G100=	ENST00000333139		100	ggT/ggC	0	not done		synonymous	
MIER1		inserm.fr	GRCh37	1	67450450	67450450	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1756T																					ENST00000401041.1:c.1565A>G	p.Asp522Gly	p.D522G	ENST00000401041	NM_001077700.2	522	gAt/gGt	0	not done		possiblydamaging	
HSD11B2		inserm.fr	GRCh37	16	67470705	67470705	+	stop_gained	Nonsense_Mutation	SNP	C	G	G			CHC614T									Valid												ENST00000326152.5:c.1017C>G	p.Tyr339Ter	p.Y339*	ENST00000326152	NM_000196.3	339	taC/taG	0	validated		damaging	
GPHN		inserm.fr	GRCh37	14	67576862	67576862	+	synonymous_variant	Silent	SNP	T	G	G			CHC1566T																					ENST00000478722.1:c.1299T>G	p.Thr433=	p.T433=	ENST00000478722	NM_020806.4	433	acT/acG	0	not done		synonymous	
FAM65A		inserm.fr	GRCh37	16	67580331	67580331	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1751T																					ENST00000422602.2:c.3685T>G	p.Phe1229Val	p.F1229V	ENST00000422602	NM_001193523.1	1229	Ttt/Gtt	0	not done		probablydamaging	
RLTPR		inserm.fr	GRCh37	16	67680633	67680633	+	synonymous_variant	Silent	SNP	A	G	G			BCM543T																					ENST00000334583.6:c.483A>G	p.Thr161=	p.T161=	ENST00000334583	NM_001013838.1	161	acA/acG	0	validated		synonymous	
IL23R		inserm.fr	GRCh37	1	67724232	67724232	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC429T									Valid												ENST00000347310.5:c.1311A>G	p.Ile437Met	p.I437M	ENST00000347310	NM_144701.2	437	atA/atG	0	validated		probablydamaging	
IQCH		inserm.fr	GRCh37	15	67757581	67757581	+	synonymous_variant	Silent	SNP	C	G	G			CHC1531T																					ENST00000335894.4:c.2622C>G	p.Arg874=	p.R874=	ENST00000335894	NM_001031715.2	874	cgC/cgG	0	not done		synonymous	
ALDH3B1		inserm.fr	GRCh37	11	67782855	67782855	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1594T																					ENST00000539229.1:c.88C>G	p.Leu30Val	p.L30V	ENST00000539229	NM_001161473.1	30	Ctc/Gtc	0	validated		probablydamaging	
PCDH9		inserm.fr	GRCh37	13	67801377	67801377	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC912T									Valid												ENST00000544246.1:c.1196T>C	p.Val399Ala	p.V399A	ENST00000544246	NM_203487.2	399	gTg/gCg	0	validated		probablydamaging	
CHKA		inserm.fr	GRCh37	11	67833926	67833926	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM483T									Valid												ENST00000265689.4:c.986T>C	p.Ile329Thr	p.I329T	ENST00000265689	NM_001277.2	329	aTt/aCt	0	validated		probablydamaging	
THAP11		inserm.fr	GRCh37	16	67876823	67876823	+	synonymous_variant	Silent	SNP	A	G	G			BCB231T																					ENST00000303596.1:c.366A>G	p.Gln122=	p.Q122=	ENST00000303596	NM_020457.2	122	caA/caG	0	validated		synonymous	
SUV420H1		inserm.fr	GRCh37	11	67926226	67926226	+	synonymous_variant	Silent	SNP	C	G	G			CHC1754T																					ENST00000304363.4:c.1587G>C	p.Gly529=	p.G529=	ENST00000304363	NM_017635.3	529	ggG/ggC	0	not done		synonymous	
CSPP1		inserm.fr	GRCh37	8	67976697	67976697	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T																					ENST00000262210.5:c.64T>G	p.Cys22Gly	p.C22G	ENST00000262210	NM_024790.6	22	Tgt/Ggt	0	validated		benign	
CSPP1		inserm.fr	GRCh37	8	68074131	68074131	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC218T																					ENST00000262210.5:c.2609T>G	p.Ile870Ser	p.I870S	ENST00000262210	NM_024790.6	870	aTc/aGc	0	validated		probablydamaging	
LRP5		inserm.fr	GRCh37	11	68115494	68115494	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC327T																					ENST00000294304.7:c.271T>G	p.Tyr91Asp	p.Y91D	ENST00000294304	NM_002335.2	91	Tac/Gac	0	validated		benign	
NFATC3		inserm.fr	GRCh37	16	68225050	68225050	+	synonymous_variant	Silent	SNP	A	G	G			CHC917T																					ENST00000346183.3:c.2478A>G	p.Glu826=	p.E826=	ENST00000346183	NM_173165.2	826	gaA/gaG	0	validated		synonymous	
PLA2G15		inserm.fr	GRCh37	16	68289816	68289816	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2103T																					ENST00000219345.5:c.650A>G	p.Asp217Gly	p.D217G	ENST00000219345	NM_012320.3	217	gAc/gGc	0	not done		possiblydamaging	
PLA2G15		inserm.fr	GRCh37	16	68293066	68293066	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2052T																					ENST00000219345.5:c.745C>G	p.Pro249Ala	p.P249A	ENST00000219345	NM_012320.3	249	Cca/Gca	0	not done		possiblydamaging	
PPP6R3		inserm.fr	GRCh37	11	68337232	68337232	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T									Valid												ENST00000393801.3:c.1145A>G	p.Tyr382Cys	p.Y382C	ENST00000393801	NM_001164160.1	382	tAt/tGt	0	validated		probablydamaging	
CENPC1		inserm.fr	GRCh37	4	68370992	68370992	+	synonymous_variant	Silent	SNP	T	G	G			CHC1751T																					ENST00000273853.6:c.2062A>C	p.Arg688=	p.R688=	ENST00000273853	NM_001812.2	688	Agg/Cgg	0	not done		synonymous	
PRMT7		inserm.fr	GRCh37	16	68373689	68373689	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC1598T																					ENST00000339507.5:c.747-2A>G		p.X249_splice	ENST00000339507				0	not done		possiblydamaging	
PPP6R3		inserm.fr	GRCh37	11	68380555	68380555	+	synonymous_variant	Silent	SNP	A	G	G			CHC059T																					ENST00000393801.3:c.2610A>G	p.Pro870=	p.P870=	ENST00000393801	NM_001164160.1	870	ccA/ccG	0	validated		synonymous	
MTL5		inserm.fr	GRCh37	11	68480839	68480839	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM371T																					ENST00000255087.5:c.1057A>C	p.Lys353Gln	p.K353Q	ENST00000255087	NM_004923.3	353	Aaa/Caa	0	validated		probablydamaging	
WLS		inserm.fr	GRCh37	1	68611555	68611555	+	synonymous_variant	Silent	SNP	A	G	G			CHC796T																					ENST00000354777.2:c.1269T>C	p.Tyr423=	p.Y423=	ENST00000354777	NM_001002292.3	423	taT/taC	0	validated		synonymous	
WLS		inserm.fr	GRCh37	1	68614314	68614314	+	synonymous_variant	Silent	SNP	C	G	G			BCM375T																					ENST00000354777.2:c.996G>C	p.Gly332=	p.G332=	ENST00000354777	NM_001002292.3	332	ggG/ggC	0	validated		synonymous	
IL26		inserm.fr	GRCh37	12	68619364	68619364	+	splice_donor_variant	Splice_Site	SNP	A	G	G			CHC1745T																					ENST00000229134.4:c.171+2T>C		p.X57_splice	ENST00000229134	NM_018402.1			0	not done		damaging	
RAD17		inserm.fr	GRCh37	5	68706357	68706357	+	synonymous_variant	Silent	SNP	T	G	G			CHC1629T																					ENST00000509734.1:c.1764T>G	p.Pro588=	p.P588=	ENST00000509734		588	ccT/ccG	0	not done		synonymous	
IGHMBP2		inserm.fr	GRCh37	11	68707120	68707120	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM265T									Valid												ENST00000255078.3:c.2903A>G	p.Gln968Arg	p.Q968R	ENST00000255078	NM_002180.2	968	cAg/cGg	0	validated		possiblydamaging	
CDH3		inserm.fr	GRCh37	16	68713795	68713795	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1201T																					ENST00000264012.4:c.785C>G	p.Pro262Arg	p.P262R	ENST00000264012	NM_001793.4	262	cCa/cGa	0	not done		probablydamaging	
CDH3		inserm.fr	GRCh37	16	68729163	68729163	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2048T																					ENST00000264012.4:c.2008C>G	p.Leu670Val	p.L670V	ENST00000264012	NM_001793.4	670	Ctg/Gtg	0	not done		benign	
APLF		inserm.fr	GRCh37	2	68729883	68729883	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC301T									Valid												ENST00000303795.4:c.189T>G	p.Phe63Leu	p.F63L	ENST00000303795	NM_173545.2	63	ttT/ttG	0	validated		possiblydamaging	
ARHGAP28		inserm.fr	GRCh37	18	6873742	6873742	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM567T									Valid												ENST00000419673.2:c.703C>G	p.Pro235Ala	p.P235A	ENST00000419673	NM_001010000.2	235	Cct/Gct	0	validated		possiblydamaging	
OCLN		inserm.fr	GRCh37	5	68805063	68805063	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1044T																					ENST00000355237.2:c.146A>G	p.Glu49Gly	p.E49G	ENST00000355237	NM_002538.3	49	gAa/gGa	0	not done		benign	
KDM4C		inserm.fr	GRCh37	9	6888023	6888023	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC912T									Valid												ENST00000381309.3:c.743C>G	p.Ser248Cys	p.S248C	ENST00000381309	NM_015061.3	248	tCt/tGt	0	validated		probablydamaging	
CORO2B		inserm.fr	GRCh37	15	69003149	69003149	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1750T																					ENST00000566799.1:c.412C>G	p.Arg138Gly	p.R138G	ENST00000566799		138	Cgg/Ggg	0	not done		probablydamaging	
BMP10		inserm.fr	GRCh37	2	69092999	69092999	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000295379.1:c.1039T>C	p.Tyr347His	p.Y347H	ENST00000295379	NM_014482.1	347	Tac/Cac	0	validated		probablydamaging	
UBA3		inserm.fr	GRCh37	3	69105965	69105965	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	G	G			CHC1604T																					ENST00000361055.4:c.966T>C	p.Ala322=	p.A322=	ENST00000361055	NM_003968.3	322	gcT/gcC	0	not done		possiblydamaging	
ARHGAP28		inserm.fr	GRCh37	18	6912142	6912142	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1708T																					ENST00000419673.2:c.1702C>G	p.Gln568Glu	p.Q568E	ENST00000419673	NM_001010000.2	568	Caa/Gaa	0	not done		benign	
MDM2		inserm.fr	GRCh37	12	69214109	69214109	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC304T																					ENST00000462284.1:c.313A>G	p.Ile105Val	p.I105V	ENST00000462284	NM_002392.5	105	Ata/Gta	0	validated		benign	
ZFP36L1		inserm.fr	GRCh37	14	69259701	69259701	+	5_prime_UTR_variant	5'UTR	SNP	A	G	G			CHC1209T																					ENST00000439696.2:c.-46T>C		*16*	ENST00000439696	NM_004926.3			0	not done		synonymous	
FRMD4B		inserm.fr	GRCh37	3	69299220	69299220	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1207T																					ENST00000398540.3:c.532T>C	p.Phe178Leu	p.F178L	ENST00000398540	NM_015123.1	178	Ttc/Ctc	0	not done		possiblydamaging	
BAI3		inserm.fr	GRCh37	6	69349319	69349319	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC794T																					ENST00000370598.1:c.752A>G	p.Lys251Arg	p.K251R	ENST00000370598	NM_001704.2	251	aAa/aGa	0	validated		possiblydamaging	
COG8		inserm.fr	GRCh37	16	69369210	69369210	+	synonymous_variant	Silent	SNP	C	G	G			BCM423T																					ENST00000306875.4:c.627G>C	p.Leu209=	p.L209=	ENST00000306875	NM_032382.4	209	ctG/ctC	0	validated		synonymous	
SLC16A13		inserm.fr	GRCh37	17	6942016	6942016	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC798T									Valid												ENST00000308027.6:c.889C>G	p.Leu297Val	p.L297V	ENST00000308027	NM_201566.2	297	Ctg/Gtg	0	validated		possiblydamaging	
LAMA1		inserm.fr	GRCh37	18	6948492	6948492	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCB301T																					ENST00000389658.3:c.8620G>C	p.Asp2874His	p.D2874H	ENST00000389658	NM_005559.3	2874	Gac/Cac	0	validated		possiblydamaging	
DEAF1		inserm.fr	GRCh37	11	694949	694949	+	synonymous_variant	Silent	SNP	T	G	G			CHC2208T																					ENST00000382409.3:c.99A>C	p.Ala33=	p.A33=	ENST00000382409	NM_021008.2	33	gcA/gcC	0	validated		synonymous	
KIF4A		inserm.fr	GRCh37	X	69561703	69561703	+	synonymous_variant	Silent	SNP	A	G	G			CHC1568T																					ENST00000374403.3:c.1188A>G	p.Val396=	p.V396=	ENST00000374403	NM_012310.4	396	gtA/gtG	0	not done		synonymous	
GFPT1		inserm.fr	GRCh37	2	69597229	69597229	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1611T																					ENST00000357308.4:c.127G>C	p.Asp43His	p.D43H	ENST00000357308	NM_001244710.1	43	Gat/Cat	0	not done		probablydamaging	
NFAT5		inserm.fr	GRCh37	16	69687142	69687142	+	synonymous_variant	Silent	SNP	A	G	G			CHC805T																					ENST00000432919.1:c.816A>G	p.Thr272=	p.T272=	ENST00000432919	NM_138713.3	272	acA/acG	0	not done		synonymous	
DLG3		inserm.fr	GRCh37	X	69699066	69699066	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1626T																					ENST00000374360.3:c.1472C>G	p.Ser491Cys	p.S491C	ENST00000374360	NM_021120.3	491	tCt/tGt	0	not done		probablydamaging	
AAK1		inserm.fr	GRCh37	2	69704079	69704079	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1731T																					ENST00000409085.4:c.2724G>C	p.Glu908Asp	p.E908D	ENST00000409085	NM_014911.3	908	gaG/gaC	0	not done		benign	
KIF23		inserm.fr	GRCh37	15	69729002	69729002	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1209T																					ENST00000260363.4:c.1496A>G	p.Glu499Gly	p.E499G	ENST00000260363	NM_138555.3	499	gAa/gGa	0	not done		benign	
YEATS4		inserm.fr	GRCh37	12	69784036	69784036	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC304T									Valid												ENST00000247843.2:c.624A>G	p.Ile208Met	p.I208M	ENST00000247843	NM_006530.2	208	atA/atG	0	validated		probablydamaging	
KDM4C		inserm.fr	GRCh37	9	6986412	6986412	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1055T																					ENST00000381309.3:c.1423A>G	p.Arg475Gly	p.R475G	ENST00000381309	NM_015061.3	475	Aga/Gga	0	validated		benign	
TEX11		inserm.fr	GRCh37	X	69890243	69890243	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000395889.2:c.1409T>C	p.Leu470Ser	p.L470S	ENST00000395889	NM_001003811.1	470	tTg/tCg	0	validated		probablydamaging	
SLC39A9		inserm.fr	GRCh37	14	69908799	69908799	+	synonymous_variant	Silent	SNP	A	G	G			CHC896T																					ENST00000336643.5:c.219A>G	p.Gln73=	p.Q73=	ENST00000336643	NM_018375.4	73	caA/caG	0	not done		synonymous	
MITF		inserm.fr	GRCh37	3	69915446	69915446	+	intron_variant	Intron	SNP	A	G	G			CHC1741T																					ENST00000352241.4:c.105-12839A>G		*35*	ENST00000352241	NM_198159.2			0	not done			
MYPN		inserm.fr	GRCh37	10	69918384	69918384	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC1725T																					ENST00000358913.5:c.1459A>G	p.Lys487Glu	p.K487E	ENST00000358913	NM_032578.3	487	Aaa/Gaa	0	not done		probablydamaging	
BAI3		inserm.fr	GRCh37	6	69949086	69949086	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1082T																					ENST00000370598.1:c.2782A>G	p.Ile928Val	p.I928V	ENST00000370598	NM_001704.2	928	Ata/Gta	0	validated		probablydamaging	
ANO1		inserm.fr	GRCh37	11	70011676	70011676	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC1775T																					ENST00000355303.5:c.2051C>G	p.Pro684Arg	p.P684R	ENST00000355303	NM_018043.5	684	cCg/cGg	0	validated		damaging	
PCBP1		inserm.fr	GRCh37	2	70315375	70315375	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2321T																					ENST00000303577.5:c.500T>G	p.Leu167Arg	p.L167R	ENST00000303577	NM_006196.3	167	cTg/cGg	0	validated		benign	
IL2RG		inserm.fr	GRCh37	X	70329144	70329144	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC912T									Valid												ENST00000374202.2:c.691T>C	p.Cys231Arg	p.C231R	ENST00000374202	NM_000206.2	231	Tgt/Cgt	0	validated		probablydamaging	
TET1		inserm.fr	GRCh37	10	70333249	70333249	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC302T									Valid												ENST00000373644.4:c.1154A>G	p.His385Arg	p.H385R	ENST00000373644	NM_030625.2	385	cAt/cGt	0	validated		probablydamaging	
TET1		inserm.fr	GRCh37	10	70333274	70333274	+	synonymous_variant	Silent	SNP	A	G	G			CHC302T																					ENST00000373644.4:c.1179A>G	p.Pro393=	p.P393=	ENST00000373644	NM_030625.2	393	ccA/ccG	0	validated		synonymous	
TLE3		inserm.fr	GRCh37	15	70344760	70344760	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1719T																					ENST00000558939.1:c.2087T>C	p.Leu696Pro	p.L696P	ENST00000558939	NM_001282979.1	696	cTg/cCg	0	not done		probablydamaging	
MED12		inserm.fr	GRCh37	X	70354284	70354284	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC703T																					ENST00000374080.3:c.4695C>G	p.Ile1565Met	p.I1565M	ENST00000374080		1565	atC/atG	0	validated		possiblydamaging	
TLE3		inserm.fr	GRCh37	15	70358447	70358447	+	synonymous_variant	Silent	SNP	C	G	G			CHC898T																					ENST00000558939.1:c.483G>C	p.Gly161=	p.G161=	ENST00000558939	NM_001282979.1	161	ggG/ggC	0	validated		synonymous	
ST3GAL2		inserm.fr	GRCh37	16	70432303	70432303	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC961T									Valid												ENST00000393640.4:c.131G>C	p.Gly44Ala	p.G44A	ENST00000393640		44	gGg/gCg	0	validated		benign	
GJB1		inserm.fr	GRCh37	X	70444166	70444166	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1209T																					ENST00000374022.3:c.609C>G	p.Ile203Met	p.I203M	ENST00000374022	NM_001097642.2	203	atC/atG	0	not done		benign	
KLHL1		inserm.fr	GRCh37	13	70456452	70456452	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM739T																					ENST00000377844.4:c.1190T>C	p.Leu397Pro	p.L397P	ENST00000377844	NM_020866.2	397	cTt/cCt	0	validated		probablydamaging	
NETO1		inserm.fr	GRCh37	18	70461398	70461398	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1028T																					ENST00000327305.6:c.593A>C	p.Glu198Ala	p.E198A	ENST00000327305	NM_138966.3	198	gAg/gCg	0	not done		possiblydamaging	
ZMYM3		inserm.fr	GRCh37	X	70467248	70467248	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1629T																					ENST00000353904.2:c.2261A>C	p.Gln754Pro	p.Q754P	ENST00000353904	NM_005096.3	754	cAg/cCg	0	not done		probablydamaging	
NETO1		inserm.fr	GRCh37	18	70526178	70526178	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC884T									Valid												ENST00000327305.6:c.352T>C	p.Cys118Arg	p.C118R	ENST00000327305	NM_138966.3	118	Tgt/Cgt	0	validated		probablydamaging	
NLRP14		inserm.fr	GRCh37	11	7060071	7060071	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1028T																					ENST00000299481.4:c.254A>G	p.Lys85Arg	p.K85R	ENST00000299481	NM_176822.3	85	aAg/aGg	0	not done		benign	
SRSF11		inserm.fr	GRCh37	1	70703226	70703226	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC302T																					ENST00000370950.3:c.709A>G	p.Ile237Val	p.I237V	ENST00000370950		237	Ata/Gta	0	validated		possiblydamaging	
OGT		inserm.fr	GRCh37	X	70756182	70756182	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T									Valid												ENST00000373719.3:c.192A>G	p.Ile64Met	p.I64M	ENST00000373719	NM_181673.2	64	atA/atG	0	validated		possiblydamaging	
BDP1		inserm.fr	GRCh37	5	70779712	70779712	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2103T																					ENST00000358731.4:c.1058A>G	p.Asp353Gly	p.D353G	ENST00000358731	NM_018429.2	353	gAc/gGc	0	not done		probablydamaging	
ACRC		inserm.fr	GRCh37	X	70832373	70832373	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2358T																					ENST00000373695.1:c.1919A>G	p.Tyr640Cys	p.Y640C	ENST00000373695		640	tAc/tGc	0	validated		probablydamaging	
BDP1		inserm.fr	GRCh37	5	70855966	70855966	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1592T																					ENST00000358731.4:c.7398T>G	p.Asp2466Glu	p.D2466E	ENST00000358731	NM_018429.2	2466	gaT/gaG	0	not done		benign	
BDP1		inserm.fr	GRCh37	5	70858265	70858265	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1081T																					ENST00000358731.4:c.7661A>G	p.Lys2554Arg	p.K2554R	ENST00000358731	NM_018429.2	2554	aAa/aGa	0	validated		probablydamaging	
CTH		inserm.fr	GRCh37	1	70897827	70897827	+	synonymous_variant	Silent	SNP	A	G	G			CHC465T																					ENST00000370938.3:c.786A>G	p.Leu262=	p.L262=	ENST00000370938	NM_001902.5	262	ctA/ctG	0	validated		synonymous	
PTPRB		inserm.fr	GRCh37	12	70918372	70918372	+	splice_acceptor_variant	Splice_Site	SNP	C	G	G			CHC2103T																					ENST00000334414.6:c.6505-1G>C		p.X2169_splice	ENST00000334414	NM_001109754.2			0	not done		damaging	
HYDIN		inserm.fr	GRCh37	16	70954718	70954718	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1604T																					ENST00000393567.2:c.7561A>C	p.Thr2521Pro	p.T2521P	ENST00000393567	NM_001270974.1	2521	Acg/Ccg	0	not done		possiblydamaging	
SUPV3L1		inserm.fr	GRCh37	10	70968552	70968552	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1183T																					ENST00000359655.4:c.2122A>G	p.Arg708Gly	p.R708G	ENST00000359655	NM_003171.3	708	Aga/Gga	0	not done		benign	
HYDIN		inserm.fr	GRCh37	16	70972601	70972601	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1152T																					ENST00000393567.2:c.6911A>C	p.Glu2304Ala	p.E2304A	ENST00000393567	NM_001270974.1	2304	gAg/gCg	0	validated		probablydamaging	
PTPRB		inserm.fr	GRCh37	12	70980942	70980942	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1595T																					ENST00000334414.6:c.2156T>C	p.Leu719Pro	p.L719P	ENST00000334414	NM_001109754.2	719	cTa/cCa	0	validated		probablydamaging	
HYDIN		inserm.fr	GRCh37	16	71009089	71009089	+	synonymous_variant	Silent	SNP	A	G	G			CHC1712T																					ENST00000393567.2:c.4722T>C	p.Asp1574=	p.D1574=	ENST00000393567	NM_001270974.1	1574	gaT/gaC	0	not done		synonymous	
PTPRR		inserm.fr	GRCh37	12	71050496	71050496	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC451T																					ENST00000283228.2:c.1868T>C	p.Leu623Pro	p.L623P	ENST00000283228	NM_002849.3	623	cTt/cCt	0	validated		probablydamaging	
PTPRR		inserm.fr	GRCh37	12	71056347	71056347	+	synonymous_variant	Silent	SNP	A	G	G			CHC805T																					ENST00000283228.2:c.1536T>C	p.Tyr512=	p.Y512=	ENST00000283228	NM_002849.3	512	taT/taC	0	not done		synonymous	
CSN3		inserm.fr	GRCh37	4	71114751	71114751	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1763T																					ENST00000304954.3:c.124A>G	p.Thr42Ala	p.T42A	ENST00000304954	NM_005212.2	42	Aca/Gca	0	not done		benign	
LARP6		inserm.fr	GRCh37	15	71125182	71125182	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC798T									Valid												ENST00000299213.8:c.685T>C	p.Ser229Pro	p.S229P	ENST00000299213	NM_018357.2	229	Tca/Cca	0	validated		probablydamaging	
COG1		inserm.fr	GRCh37	17	71193062	71193062	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC205T									Valid												ENST00000299886.4:c.584A>G	p.Lys195Arg	p.K195R	ENST00000299886	NM_018714.2	195	aAg/aGg	0	validated		benign	
MAP3K9		inserm.fr	GRCh37	14	71197099	71197099	+	stop_lost	Nonstop_Mutation	SNP	A	G	G			CHC1531T																					ENST00000555993.2:c.3355T>C	p.Ter1119GlnextTer43	p.*1119Qext*43	ENST00000555993	NM_033141.2	1119	Tag/Cag	0	not done			
CABS1		inserm.fr	GRCh37	4	71201042	71201042	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC909T																					ENST00000273936.5:c.286A>G	p.Ile96Val	p.I96V	ENST00000273936	NM_033122.3	96	Att/Gtt	0	not done		benign	
CABS1		inserm.fr	GRCh37	4	71201178	71201178	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2200T																					ENST00000273936.5:c.422A>G	p.Lys141Arg	p.K141R	ENST00000273936	NM_033122.3	141	aAa/aGa	0	not done		possiblydamaging	
COG1		inserm.fr	GRCh37	17	71203394	71203394	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC303T									Valid												ENST00000299886.4:c.2804A>G	p.Gln935Arg	p.Q935R	ENST00000299886	NM_018714.2	935	cAg/cGg	0	validated		possiblydamaging	
C17orf80		inserm.fr	GRCh37	17	71232610	71232610	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM695T																					ENST00000359042.2:c.989A>G	p.His330Arg	p.H330R	ENST00000359042	NM_017941.4	330	cAt/cGt	0	validated		possiblydamaging	
ACADVL		inserm.fr	GRCh37	17	7126457	7126457	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC302T																					ENST00000543245.2:c.1152T>G	p.Asp384Glu	p.D384E	ENST00000543245	NM_001270447.1	384	gaT/gaG	0	validated		benign	
ACADVL		inserm.fr	GRCh37	17	7127860	7127860	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1205T																					ENST00000543245.2:c.1736A>G	p.Lys579Arg	p.K579R	ENST00000543245	NM_001270447.1	579	aAg/aGg	0	not done		possiblydamaging	
NAGK		inserm.fr	GRCh37	2	71297657	71297657	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1746T																					ENST00000455662.2:c.193T>G	p.Leu65Val	p.L65V	ENST00000455662	NM_017567.4	65	Tta/Gta	0	not done		probablydamaging	
MCEE		inserm.fr	GRCh37	2	71337164	71337164	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2111T																					ENST00000244217.5:c.467A>C	p.Lys156Thr	p.K156T	ENST00000244217	NM_032601.3	156	aAa/aCa	0	not done		probablydamaging	
MUC7		inserm.fr	GRCh37	4	71339780	71339780	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC121T																					ENST00000413702.1:c.42T>G	p.Ser14Arg	p.S14R	ENST00000413702	NM_001145006.1	14	agT/agG	0	validated		probablydamaging	
MUC7		inserm.fr	GRCh37	4	71347410	71347410	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC801T																					ENST00000413702.1:c.949A>G	p.Thr317Ala	p.T317A	ENST00000413702	NM_001145006.1	317	Act/Gct	0	not done		probablydamaging	
NHSL2		inserm.fr	GRCh37	X	71359781	71359781	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1040T																					ENST00000540800.1:c.2383A>G	p.Lys795Glu	p.K795E	ENST00000540800	NM_001013627.2	795	Aag/Gag	0	not done		probablydamaging	
FAM122A		inserm.fr	GRCh37	9	71395625	71395625	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T									Valid												ENST00000394264.3:c.545T>G	p.Phe182Cys	p.F182C	ENST00000394264	NM_138333.3	182	tTt/tGt	0	validated		probablydamaging	
MAP1B		inserm.fr	GRCh37	5	71479620	71479620	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC314T									Valid												ENST00000296755.7:c.337A>G	p.Ile113Val	p.I113V	ENST00000296755	NM_005909.3	113	Atc/Gtc	0	validated		probablydamaging	
PCNX		inserm.fr	GRCh37	14	71485730	71485730	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1568T																					ENST00000304743.2:c.3001C>G	p.Arg1001Gly	p.R1001G	ENST00000304743	NM_014982.2	1001	Cgt/Ggt	0	not done		probablydamaging	
MAP1B		inserm.fr	GRCh37	5	71494687	71494687	+	synonymous_variant	Silent	SNP	A	G	G			CHC1739T																					ENST00000296755.7:c.5505A>G	p.Ser1835=	p.S1835=	ENST00000296755	NM_005909.3	1835	tcA/tcG	0	not done		synonymous	
IGJ		inserm.fr	GRCh37	4	71522928	71522928	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC361TA																					ENST00000254801.4:c.269T>C	p.Leu90Pro	p.L90P	ENST00000254801	NM_144646.3	90	cTc/cCc	0	validated		possiblydamaging	
ZRANB2		inserm.fr	GRCh37	1	71544162	71544162	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2110Tbis																					ENST00000370920.3:c.196G>C	p.Ala66Pro	p.A66P	ENST00000370920	NM_203350.2	66	Gct/Cct	0	not done		probablydamaging	
UTP3		inserm.fr	GRCh37	4	71554734	71554734	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC155T																					ENST00000254803.2:c.340T>G	p.Ser114Ala	p.S114A	ENST00000254803	NM_020368.2	114	Tcc/Gcc	0	validated		possiblydamaging	
ZNF638		inserm.fr	GRCh37	2	71577386	71577386	+	synonymous_variant	Silent	SNP	A	G	G			CHC433T																					ENST00000409544.1:c.1302A>G	p.Glu434=	p.E434=	ENST00000409544	NM_001252612.1	434	gaA/gaG	0	validated		synonymous	
ELP5		inserm.fr	GRCh37	17	7161986	7161986	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1743T																					ENST00000396628.2:c.719A>G	p.Asp240Gly	p.D240G	ENST00000396628	NM_203414.1	240	gAt/gGt	0	not done		benign	
ZNF638		inserm.fr	GRCh37	2	71620740	71620740	+	intron_variant	Intron	SNP	A	G	G			CHC2206T																					ENST00000409544.1:c.2378-2531A>G		*793*	ENST00000409544	NM_001252612.1			0	not done			
ZNF638		inserm.fr	GRCh37	2	71650484	71650484	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2029T																					ENST00000409544.1:c.3840T>G	p.Ile1280Met	p.I1280M	ENST00000409544	NM_001252612.1	1280	atT/atG	0	not done		possiblydamaging	
ZNF638		inserm.fr	GRCh37	2	71655703	71655703	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM783T																					ENST00000409544.1:c.5572A>G	p.Ile1858Val	p.I1858V	ENST00000409544	NM_001252612.1	1858	Att/Gtt	0	validated		benign	
B3GAT2		inserm.fr	GRCh37	6	71666079	71666079	+	synonymous_variant	Silent	SNP	A	G	G			CHC891T																					ENST00000230053.6:c.54T>C	p.Ile18=	p.I18=	ENST00000230053	NM_080742.2	18	atT/atC	0	not done		synonymous	
TJP2		inserm.fr	GRCh37	9	71833262	71833262	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1749T																					ENST00000539225.1:c.422A>G	p.Lys141Arg	p.K141R	ENST00000539225	NM_001170416.1	141	aAg/aGg	0	not done		probablydamaging	
ATXN1L		inserm.fr	GRCh37	16	71884346	71884346	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1763T																					ENST00000427980.2:c.703A>G	p.Arg235Gly	p.R235G	ENST00000427980	NM_001137675.3	235	Agg/Ggg	0	not done		possiblydamaging	
DYSF		inserm.fr	GRCh37	2	71891441	71891441	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC218T																					ENST00000410020.3:c.5047A>G	p.Lys1683Glu	p.K1683E	ENST00000410020	NM_001130987.1	1683	Aag/Gag	0	validated		benign	
TYSND1		inserm.fr	GRCh37	10	71906005	71906005	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1708T																					ENST00000287078.6:c.338T>C	p.Leu113Pro	p.L113P	ENST00000287078	NM_173555.3	113	cTc/cCc	0	validated		benign	
TYSND1		inserm.fr	GRCh37	10	71906010	71906010	+	synonymous_variant	Silent	SNP	C	G	G			CHC2098T																					ENST00000287078.6:c.333G>C	p.Ala111=	p.A111=	ENST00000287078	NM_173555.3	111	gcG/gcC	0	validated		synonymous	
INPPL1		inserm.fr	GRCh37	11	71940705	71940705	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC1738T																					ENST00000298229.2:c.754-2A>G		p.X252_splice	ENST00000298229	NM_001567.3			0	not done		damaging	
INPPL1		inserm.fr	GRCh37	11	71944155	71944155	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC451T																					ENST00000298229.2:c.1988A>G	p.Tyr663Cys	p.Y663C	ENST00000298229	NM_001567.3	663	tAt/tGt	0	validated		probablydamaging	
PKD1L3		inserm.fr	GRCh37	16	71983763	71983763	+	non_coding_transcript_exon_variant	RNA	SNP	C	G	G			BCM265T									Valid												ENST00000534738.1:n.3537G>C		*1179*	ENST00000534738				0	validated		possiblydamaging	
DHX38		inserm.fr	GRCh37	16	72130749	72130749	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC301T																					ENST00000268482.3:c.352C>G	p.Pro118Ala	p.P118A	ENST00000268482	NM_014003.3	118	Cca/Gca	0	validated		probablydamaging	
CNDP2		inserm.fr	GRCh37	18	72168664	72168664	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM321T																					ENST00000324262.4:c.161A>G	p.Gln54Arg	p.Q54R	ENST00000324262	NM_018235.2	54	cAg/cGg	0	validated		benign	
PMFBP1		inserm.fr	GRCh37	16	72173229	72173229	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC805T																					ENST00000237353.10:c.877T>C	p.Tyr293His	p.Y293H	ENST00000237353	NM_031293.2	293	Tac/Cac	0	not done		benign	
TBC1D15		inserm.fr	GRCh37	12	72289796	72289796	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1708T																					ENST00000550746.1:c.976A>G	p.Ile326Val	p.I326V	ENST00000550746	NM_022771.4	326	Att/Gtt	0	not done		benign	
TBC1D15		inserm.fr	GRCh37	12	72290471	72290471	+	synonymous_variant	Silent	SNP	A	G	G			CHC2216T																					ENST00000550746.1:c.1050A>G	p.Ala350=	p.A350=	ENST00000550746	NM_022771.4	350	gcA/gcG	0	not done		synonymous	
TBC1D15		inserm.fr	GRCh37	12	72300816	72300816	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1715T																					ENST00000550746.1:c.1249A>G	p.Arg417Gly	p.R417G	ENST00000550746	NM_022771.4	417	Aga/Gga	0	not done		probablydamaging	
RREB1		inserm.fr	GRCh37	6	7230187	7230187	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1186T																					ENST00000379938.2:c.1855A>G	p.Thr619Ala	p.T619A	ENST00000379938	NM_001003700.1	619	Aca/Gca	0	not done		benign	
GPR142		inserm.fr	GRCh37	17	72368108	72368108	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1745T																					ENST00000335666.4:c.758C>G	p.Thr253Arg	p.T253R	ENST00000335666	NM_181790.1	253	aCg/aGg	0	not done		probablydamaging	
ARAP1		inserm.fr	GRCh37	11	72410531	72410531	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC314T																					ENST00000393609.3:c.2369T>C	p.Val790Ala	p.V790A	ENST00000393609	NM_001040118.2	790	gTg/gCg	0	validated		benign	
ARAP1		inserm.fr	GRCh37	11	72416854	72416854	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1182T																					ENST00000393609.3:c.1805T>C	p.Ile602Thr	p.I602T	ENST00000393609	NM_001040118.2	602	aTc/aCc	0	not done		probablydamaging	
TMEM171		inserm.fr	GRCh37	5	72419635	72419635	+	synonymous_variant	Silent	SNP	A	G	G			CHC432T																					ENST00000454765.2:c.435A>G	p.Leu145=	p.L145=	ENST00000454765		145	ctA/ctG	0	not done		synonymous	
GPRC5C		inserm.fr	GRCh37	17	72443154	72443154	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1751T																					ENST00000392627.1:c.1448A>G	p.Tyr483Cys	p.Y483C	ENST00000392627	NM_022036.2	483	tAc/tGc	0	not done		probablydamaging	
GRAMD2		inserm.fr	GRCh37	15	72459415	72459415	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2127T																					ENST00000309731.7:c.391T>C	p.Ser131Pro	p.S131P	ENST00000309731	NM_001012642.2	131	Tct/Cct	0	not done		probablydamaging	
CD300A		inserm.fr	GRCh37	17	72469890	72469890	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T									Valid												ENST00000360141.3:c.256T>G	p.Phe86Val	p.F86V	ENST00000360141	NM_007261.3	86	Ttc/Gtc	0	validated		probablydamaging	
ADAMTS14		inserm.fr	GRCh37	10	72503403	72503403	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC923T																					ENST00000373208.1:c.2033A>G	p.Asp678Gly	p.D678G	ENST00000373208	NM_139155.2	678	gAc/gGc	0	not done		possiblydamaging	
TBATA		inserm.fr	GRCh37	10	72531210	72531210	+	synonymous_variant	Silent	SNP	A	G	G			BCM545T																					ENST00000299290.1:c.978T>C	p.Ile326=	p.I326=	ENST00000299290	NM_152710.2	326	atT/atC	0	validated		synonymous	
SGPL1		inserm.fr	GRCh37	10	72633309	72633309	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2098T																					ENST00000373202.3:c.1261A>G	p.Lys421Glu	p.K421E	ENST00000373202	NM_003901.3	421	Aaa/Gaa	0	not done		probablydamaging	
SGPL1		inserm.fr	GRCh37	10	72635202	72635202	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC879T																					ENST00000373202.3:c.1342T>G	p.Leu448Val	p.L448V	ENST00000373202	NM_003901.3	448	Ttg/Gtg	0	not done		benign	
PCBD1		inserm.fr	GRCh37	10	72643709	72643709	+	stop_lost	Nonstop_Mutation	SNP	A	G	G			CHC1744T																					ENST00000299299.3:c.313T>C	p.Ter105GlnextTer14	p.*105Qext*14	ENST00000299299	NM_000281.2	105	Tag/Cag	0	not done			
EXOC6B		inserm.fr	GRCh37	2	72707799	72707799	+	synonymous_variant	Silent	SNP	A	G	G			CHC1742T																					ENST00000272427.6:c.1746T>C	p.Asn582=	p.N582=	ENST00000272427	NM_015189.1	582	aaT/aaC	0	not done		synonymous	
TRIM50		inserm.fr	GRCh37	7	72738629	72738629	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM791T																					ENST00000333149.2:c.157T>C	p.Cys53Arg	p.C53R	ENST00000333149	NM_001281450.1	53	Tgc/Cgc	0	validated		probablydamaging	
RAB37		inserm.fr	GRCh37	17	72739268	72739268	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC1603T																					ENST00000392614.4:c.262A>G	p.Ile88Val	p.I88V	ENST00000392614	NM_001163989.1	88	Atc/Gtc	0	validated		possiblydamaging	
FOXD1		inserm.fr	GRCh37	5	72744119	72744119	+	synonymous_variant	Silent	SNP	C	G	G			CHC1745T																					ENST00000499003.3:c.69G>C	p.Gly23=	p.G23=	ENST00000499003	NM_004472.2	23	ggG/ggC	0	validated		synonymous	
FOXD1		inserm.fr	GRCh37	5	72744119	72744119	+	synonymous_variant	Silent	SNP	C	G	G			CHC801T																					ENST00000499003.3:c.69G>C	p.Gly23=	p.G23=	ENST00000499003	NM_004472.2	23	ggG/ggC	0	validated		synonymous	
MSC		inserm.fr	GRCh37	8	72756288	72756288	+	synonymous_variant	Silent	SNP	A	G	G			BCM617T																					ENST00000325509.4:c.126T>C	p.Ser42=	p.S42=	ENST00000325509	NM_005098.3	42	agT/agC	0	validated		synonymous	
ZNF407		inserm.fr	GRCh37	18	72775424	72775424	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1717T																					ENST00000299687.5:c.5747A>G	p.Gln1916Arg	p.Q1916R	ENST00000299687	NM_017757.2	1916	cAg/cGg	0	not done		probablydamaging	
C1GALT1		inserm.fr	GRCh37	7	7278091	7278091	+	synonymous_variant	Silent	SNP	A	G	G			CHC432T																					ENST00000436587.2:c.426A>G	p.Gln142=	p.Q142=	ENST00000436587	NM_020156.4	142	caA/caG	0	not done		synonymous	
UTP15		inserm.fr	GRCh37	5	72875754	72875754	+	synonymous_variant	Silent	SNP	A	G	G			CHC429T																					ENST00000296792.4:c.1392A>G	p.Leu464=	p.L464=	ENST00000296792	NM_032175.2	464	ttA/ttG	0	validated		synonymous	
USH1G		inserm.fr	GRCh37	17	72916480	72916480	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1154T																					ENST00000319642.1:c.451G>C	p.Ala151Pro	p.A151P	ENST00000319642	NM_173477.2	151	Gcc/Ccc	0	not done		possiblydamaging	
TRPA1		inserm.fr	GRCh37	8	72950248	72950248	+	synonymous_variant	Silent	SNP	A	G	G			CHC1708T																					ENST00000262209.4:c.2355T>C	p.Tyr785=	p.Y785=	ENST00000262209	NM_007332.2	785	taT/taC	0	not done		synonymous	
TRHDE		inserm.fr	GRCh37	12	72956760	72956760	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000261180.4:c.1847A>G	p.Gln616Arg	p.Q616R	ENST00000261180	NM_013381.2	616	cAa/cGa	0	not done		probablydamaging	
TRPA1		inserm.fr	GRCh37	8	72984032	72984032	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1603T																					ENST00000262209.4:c.182A>C	p.Asp61Ala	p.D61A	ENST00000262209	NM_007332.2	61	gAt/gCt	0	not done		benign	
NPFFR2		inserm.fr	GRCh37	4	72994463	72994463	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1600T																					ENST00000308744.6:c.461A>G	p.Tyr154Cys	p.Y154C	ENST00000308744	NM_004885.2	154	tAc/tGc	0	not done		probablydamaging	
ARHGEF17		inserm.fr	GRCh37	11	73022667	73022667	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1148T																					ENST00000263674.3:c.2984A>G	p.His995Arg	p.H995R	ENST00000263674	NM_014786.3	995	cAt/cGt	0	not done		probablydamaging	
ATP5H		inserm.fr	GRCh37	17	73035115	73035115	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC902T																					ENST00000301587.4:c.398T>C	p.Ile133Thr	p.I133T	ENST00000301587	NM_006356.2	133	aTt/aCt	0	not done		benign	
VPS37D		inserm.fr	GRCh37	7	73085348	73085348	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1148T																					ENST00000324941.4:c.398A>G	p.Gln133Arg	p.Q133R	ENST00000324941	NM_001077621.1	133	cAg/cGg	0	validated		possiblydamaging	
RIMS1		inserm.fr	GRCh37	6	73102456	73102456	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2206T																					ENST00000521978.1:c.4562A>G	p.Asp1521Gly	p.D1521G	ENST00000521978	NM_014989.5	1521	gAt/gGt	0	not done		probablydamaging	
PPP4R2		inserm.fr	GRCh37	3	73114059	73114059	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC314T									Valid												ENST00000356692.5:c.695A>G	p.His232Arg	p.H232R	ENST00000356692		232	cAt/cGt	0	validated		probablydamaging	
GGA3		inserm.fr	GRCh37	17	73238979	73238979	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T									Valid												ENST00000245541.6:c.542T>C	p.Leu181Pro	p.L181P	ENST00000245541	NM_138619.2	181	cTg/cCg	0	validated		probablydamaging	
SPEM1		inserm.fr	GRCh37	17	7324148	7324148	+	intron_variant	Intron	SNP	A	G	G			CHC2098T																					ENST00000323675.3:c.206-52A>G		*69*	ENST00000323675	NM_199339.2			0	not done			
ZFYVE1		inserm.fr	GRCh37	14	73460014	73460014	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC798T									Valid												ENST00000556143.1:c.1040T>C	p.Leu347Pro	p.L347P	ENST00000556143	NM_021260.2	347	cTg/cCg	0	validated		probablydamaging	
KCNB2		inserm.fr	GRCh37	8	73479987	73479987	+	synonymous_variant	Silent	SNP	C	G	G			CHC303T																					ENST00000523207.1:c.18C>G	p.Pro6=	p.P6=	ENST00000523207	NM_004770.2	6	ccC/ccG	0	validated		synonymous	
FBXO41		inserm.fr	GRCh37	2	73491480	73491480	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCB109T									Valid												ENST00000521871.1:c.1732G>C	p.Asp578His	p.D578H	ENST00000521871		578	Gac/Cac	0	validated		probablydamaging	
ZCCHC13		inserm.fr	GRCh37	X	73524551	73524551	+	synonymous_variant	Silent	SNP	A	G	G			CHC2215T																					ENST00000339534.2:c.450A>G	p.Gln150=	p.Q150=	ENST00000339534	NM_203303.2	150	caA/caG	0	not done		synonymous	
ALMS1		inserm.fr	GRCh37	2	73680115	73680115	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC432T																					ENST00000264448.6:c.6458A>G	p.Lys2153Arg	p.K2153R	ENST00000264448	NM_015120.4	2153	aAg/aGg	0	not done		probablydamaging	
PAPLN		inserm.fr	GRCh37	14	73711390	73711390	+	synonymous_variant	Silent	SNP	C	G	G			BCB167T																					ENST00000340738.5:c.93C>G	p.Pro31=	p.P31=	ENST00000340738	NM_173462.3	31	ccC/ccG	0	validated		synonymous	
CHST3		inserm.fr	GRCh37	10	73767927	73767927	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1624T																					ENST00000373115.4:c.1138C>G	p.Gln380Glu	p.Q380E	ENST00000373115	NM_004273.4	380	Cag/Gag	0	validated		benign	
ALMS1		inserm.fr	GRCh37	2	73786166	73786166	+	synonymous_variant	Silent	SNP	A	G	G			CHC1603T																					ENST00000264448.6:c.10278A>G	p.Pro3426=	p.P3426=	ENST00000264448	NM_015120.4	3426	ccA/ccG	0	not done		synonymous	
C2CD3		inserm.fr	GRCh37	11	73801981	73801981	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC902T																					ENST00000313663.7:c.3518G>C	p.Gly1173Ala	p.G1173A	ENST00000313663	NM_015531.4	1173	gGt/gCt	0	not done		damaging	
POLR2A		inserm.fr	GRCh37	17	7388135	7388135	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC432T																					ENST00000322644.6:c.52A>G	p.Ile18Val	p.I18V	ENST00000322644	NM_000937.4	18	Atc/Gtc	0	validated		benign	
NPTN		inserm.fr	GRCh37	15	73889457	73889457	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM265T									Valid												ENST00000345330.4:c.345G>C	p.Glu115Asp	p.E115D	ENST00000345330	NM_012428.3	115	gaG/gaC	0	validated		possiblydamaging	
COX18		inserm.fr	GRCh37	4	73923997	73923997	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000295890.4:c.836T>C	p.Val279Ala	p.V279A	ENST00000295890	NM_173827.2	279	gTt/gCt	0	validated		benign	
NAT8B		inserm.fr	GRCh37	2	73927835	73927835	+	non_coding_transcript_exon_variant	RNA	SNP	A	G	G			CHC205T									Valid												ENST00000377712.2:n.598T>C		*200*	ENST00000377712				0	validated		benign	
NAT8B		inserm.fr	GRCh37	2	73927921	73927921	+	non_coding_transcript_exon_variant	RNA	SNP	C	G	G			CHC2052T																					ENST00000377712.2:n.512G>C		*171*	ENST00000377712				0	not done		benign	
ASCC1		inserm.fr	GRCh37	10	73956680	73956680	+	synonymous_variant	Silent	SNP	A	G	G			CHC1052T																					ENST00000342444.4:c.462T>C	p.Thr154=	p.T154=	ENST00000342444	NM_001198799.2	154	acT/acC	0	validated		synonymous	
KIAA2022		inserm.fr	GRCh37	X	73960232	73960232	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC889T																					ENST00000055682.6:c.4160G>C	p.Gly1387Ala	p.G1387A	ENST00000055682	NM_001008537.2	1387	gGa/gCa	0	not done		probablydamaging	
KIAA2022		inserm.fr	GRCh37	X	73960640	73960640	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1756T																					ENST00000055682.6:c.3752T>C	p.Ile1251Thr	p.I1251T	ENST00000055682	NM_001008537.2	1251	aTa/aCa	0	not done		benign	
ADCY2		inserm.fr	GRCh37	5	7396565	7396565	+	synonymous_variant	Silent	SNP	C	G	G			BCB111T																					ENST00000338316.4:c.156C>G	p.Leu52=	p.L52=	ENST00000338316	NM_020546.2	52	ctC/ctG	0	validated		synonymous	
COL28A1		inserm.fr	GRCh37	7	7398374	7398374	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC879T																					ENST00000399429.3:c.3268T>C	p.Tyr1090His	p.Y1090H	ENST00000399429	NM_001037763.2	1090	Tat/Cat	0	not done		probablydamaging	
SBSPON		inserm.fr	GRCh37	8	73993306	73993306	+	synonymous_variant	Silent	SNP	A	G	G			BCM723T																					ENST00000297354.6:c.357T>C	p.Ala119=	p.A119=	ENST00000297354	NM_153225.3	119	gcT/gcC	0	validated		synonymous	
CD276		inserm.fr	GRCh37	15	73994704	73994704	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1592T																					ENST00000318443.5:c.188T>G	p.Leu63Arg	p.L63R	ENST00000318443	NM_001024736.1	63	cTc/cGc	0	not done		probablydamaging	
GTF2IRD1		inserm.fr	GRCh37	7	74005257	74005257	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1186T																					ENST00000455841.2:c.2598C>G	p.Phe866Leu	p.F866L	ENST00000455841	NM_001199207.1	866	ttC/ttG	0	not done		benign	
GFM2		inserm.fr	GRCh37	5	74054704	74054704	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T									Valid												ENST00000296805.3:c.274T>C	p.Tyr92His	p.Y92H	ENST00000296805	NM_032380.4	92	Tac/Cac	0	validated		probablydamaging	
POLR2A		inserm.fr	GRCh37	17	7414731	7414731	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2351T																					ENST00000322644.6:c.3925A>G	p.Met1309Val	p.M1309V	ENST00000322644	NM_000937.4	1309	Atg/Gtg	0	not done		benign	
ZNF516		inserm.fr	GRCh37	18	74154400	74154400	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1041T																					ENST00000443185.2:c.611T>C	p.Leu204Pro	p.L204P	ENST00000443185	NM_014643.3	204	cTg/cCg	0	validated		probablydamaging	
ELMSAN1		inserm.fr	GRCh37	14	74203918	74203918	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2098T																					ENST00000286523.5:c.1532T>C	p.Leu511Ser	p.L511S	ENST00000286523	NM_194278.3	511	tTa/tCa	0	not done		benign	
EEF1A1		inserm.fr	GRCh37	6	74228764	74228764	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1154T																					ENST00000316292.9:c.512T>C	p.Val171Ala	p.V171A	ENST00000316292	NM_001402.5	171	gTt/gCt	0	not done		benign	
EEF1A1		inserm.fr	GRCh37	6	74229090	74229090	+	synonymous_variant	Silent	SNP	A	G	G			CHC1756T																					ENST00000316292.9:c.294T>C	p.Phe98=	p.F98=	ENST00000316292	NM_001402.5	98	ttT/ttC	0	not done		synonymous	
ALB		inserm.fr	GRCh37	4	74270068	74270068	+	synonymous_variant	Silent	SNP	C	G	G			BCM543T																					ENST00000295897.4:c.24C>G	p.Ser8=	p.S8=	ENST00000295897	NM_000477.5	8	tcC/tcG	0	validated		synonymous	
ALB		inserm.fr	GRCh37	4	74270877	74270877	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC898T																					ENST00000295897.4:c.124A>G	p.Asn42Asp	p.N42D	ENST00000295897	NM_000477.5	42	Aat/Gat	0	not done		benign	
ALB		inserm.fr	GRCh37	4	74275143	74275143	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC609T									Valid												ENST00000295897.4:c.554A>G	p.Tyr185Cys	p.Y185C	ENST00000295897	NM_000477.5	185	tAt/tGt	0	validated		probablydamaging	
PSMD7		inserm.fr	GRCh37	16	74339471	74339471	+	splice_acceptor_variant,non_coding_transcript_variant	Splice_Site	SNP	T	G	G			CHC1209T																					ENST00000566411.1:n.310-2A>C		p.X104_splice	ENST00000566411				0	not done		probablydamaging	
TMEM2		inserm.fr	GRCh37	9	74355052	74355052	+	synonymous_variant	Silent	SNP	A	G	G			CHC2200T																					ENST00000377044.4:c.1131T>C	p.Ala377=	p.A377=	ENST00000377044	NM_013390.2	377	gcT/gcC	0	not done		synonymous	
ANKRD31		inserm.fr	GRCh37	5	74408342	74408342	+	synonymous_variant	Silent	SNP	A	G	G			CHC1629T																					ENST00000506364.2:c.4239T>C	p.Asp1413=	p.D1413=	ENST00000506364		1413	gaT/gaC	0	validated		synonymous	
ANKRD31		inserm.fr	GRCh37	5	74489162	74489162	+	synonymous_variant	Silent	SNP	A	G	G			CHC805T																					ENST00000506364.2:c.1272T>C	p.Asn424=	p.N424=	ENST00000506364		424	aaT/aaC	0	not done		synonymous	
LRRIQ3		inserm.fr	GRCh37	1	74492616	74492616	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1751T																					ENST00000354431.4:c.1756T>C	p.Phe586Leu	p.F586L	ENST00000354431	NM_001105659.1	586	Ttt/Ctt	0	not done		probablydamaging	
CD109		inserm.fr	GRCh37	6	74497084	74497084	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1592T																					ENST00000287097.5:c.2465T>G	p.Ile822Ser	p.I822S	ENST00000287097		822	aTc/aGc	0	not done		possiblydamaging	
CD109		inserm.fr	GRCh37	6	74502461	74502461	+	stop_gained	Nonsense_Mutation	SNP	T	G	G			CHC155T									Valid												ENST00000287097.5:c.2814T>G	p.Tyr938Ter	p.Y938*	ENST00000287097		938	taT/taG	0	validated		damaging	
CD109		inserm.fr	GRCh37	6	74516643	74516643	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2321T																					ENST00000287097.5:c.3037A>G	p.Thr1013Ala	p.T1013A	ENST00000287097		1013	Aca/Gca	0	validated		benign	
IL8		inserm.fr	GRCh37	4	74607664	74607664	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			BCM399T									Valid												ENST00000307407.3:c.201-2A>G		p.X67_splice	ENST00000307407	NM_000584.3			0	validated		damaging	
HMGCR		inserm.fr	GRCh37	5	74638558	74638558	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM617T																					ENST00000287936.4:c.128T>G	p.Ile43Ser	p.I43S	ENST00000287936	NM_000859.2	43	aTc/aGc	0	validated		benign	
NEU3		inserm.fr	GRCh37	11	74705652	74705652	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000294064.4:c.193A>G	p.Ile65Val	p.I65V	ENST00000294064	NM_006656.5	65	Ata/Gta	0	validated		benign	
PF4V1		inserm.fr	GRCh37	4	74719596	74719596	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC307T									Valid												ENST00000226524.3:c.197C>G	p.Ala66Gly	p.A66G	ENST00000226524	NM_002620.2	66	gCc/gGc	0	validated		probablydamaging	
SRSF2		inserm.fr	GRCh37	17	74732258	74732258	+	synonymous_variant	Silent	SNP	T	G	G			CHC306T																					ENST00000359995.5:c.651A>C	p.Gly217=	p.G217=	ENST00000359995	NM_001195427.1	217	ggA/ggC	0	validated		synonymous	
MFSD11		inserm.fr	GRCh37	17	74774344	74774344	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2110Tbis																					ENST00000588460.1:c.1260A>G	p.Ile420Met	p.I420M	ENST00000588460	NM_001242534.1	420	atA/atG	0	not done		benign	
OR2AT4		inserm.fr	GRCh37	11	74799912	74799912	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC794T																					ENST00000305159.3:c.847T>C	p.Tyr283His	p.Y283H	ENST00000305159	NM_001005285.1	283	Tat/Cat	0	validated		benign	
NUDT13		inserm.fr	GRCh37	10	74882026	74882026	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC909T																					ENST00000357321.4:c.317T>G	p.Phe106Cys	p.F106C	ENST00000357321	NM_015901.4	106	tTt/tGt	0	not done		probablydamaging	
MPDU1		inserm.fr	GRCh37	17	7489319	7489319	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC805T																					ENST00000250124.6:c.225T>G	p.Ser75Arg	p.S75R	ENST00000250124	NM_004870.3	75	agT/agG	0	not done		probablydamaging	
SLCO2B1		inserm.fr	GRCh37	11	74914397	74914397	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1053T																					ENST00000289575.5:c.1874C>G	p.Thr625Ser	p.T625S	ENST00000289575	NM_007256.4	625	aCc/aGc	0	validated		possiblydamaging	
FXR2		inserm.fr	GRCh37	17	7495179	7495179	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1180T																					ENST00000250113.7:c.1991A>C	p.Glu664Ala	p.E664A	ENST00000250113	NM_004860.3	664	gAg/gCg	0	validated		possiblydamaging	
LTBP2		inserm.fr	GRCh37	14	74968146	74968146	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC1044T																					ENST00000261978.4:c.5318T>C	p.Val1773Ala	p.V1773A	ENST00000261978	NM_000428.2	1773	gTa/gCa	0	not done		probablydamaging	
WDR59		inserm.fr	GRCh37	16	74972119	74972119	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1040T																					ENST00000262144.6:c.580A>C	p.Ile194Leu	p.I194L	ENST00000262144	NM_030581.3	194	Atc/Ctc	0	not done		benign	
MAGEE2		inserm.fr	GRCh37	X	75004539	75004539	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM723T																					ENST00000373359.2:c.348G>C	p.Glu116Asp	p.E116D	ENST00000373359	NM_138703.4	116	gaG/gaC	0	validated		probablydamaging	
TNNI3K		inserm.fr	GRCh37	1	75005985	75005985	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC434T																					ENST00000370891.2:c.2722A>G	p.Ile908Val	p.I908V	ENST00000370891	NM_001112808.2	908	Att/Gtt	0	validated		benign	
TTC18		inserm.fr	GRCh37	10	75104865	75104865	+	synonymous_variant	Silent	SNP	C	G	G			CHC1602T																					ENST00000310715.3:c.567G>C	p.Gly189=	p.G189=	ENST00000310715	NM_145170.3	189	ggG/ggC	0	not done		synonymous	
COL28A1		inserm.fr	GRCh37	7	7516757	7516757	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1137T																					ENST00000399429.3:c.1219T>C	p.Phe407Leu	p.F407L	ENST00000399429	NM_001037763.2	407	Ttt/Ctt	0	not done		benign	
ARHGEF18		inserm.fr	GRCh37	19	7527200	7527200	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1209T																					ENST00000359920.6:c.2051T>G	p.Leu684Arg	p.L684R	ENST00000359920	NM_001130955.1	684	cTc/cGc	0	not done		possiblydamaging	
C15orf39		inserm.fr	GRCh37	15	75503259	75503259	+	synonymous_variant	Silent	SNP	A	G	G			CHC703T																					ENST00000360639.2:c.2946A>G	p.Glu982=	p.E982=	ENST00000360639		982	gaA/gaG	0	not done		synonymous	
SV2C		inserm.fr	GRCh37	5	75505579	75505579	+	synonymous_variant	Silent	SNP	C	G	G			CHC1035T																					ENST00000502798.2:c.780C>G	p.Pro260=	p.P260=	ENST00000502798	NM_014979.1	260	ccC/ccG	0	validated		synonymous	
SEC24C		inserm.fr	GRCh37	10	75506761	75506761	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	G	G			CHC2216T																					ENST00000339365.2:c.171A>G	p.Gln57=	p.Q57=	ENST00000339365	NM_004922.3	57	caA/caG	0	not done		damaging	
SEC24C		inserm.fr	GRCh37	10	75525570	75525570	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM275T									Valid												ENST00000339365.2:c.1379A>G	p.Tyr460Cys	p.Y460C	ENST00000339365	NM_004922.3	460	tAt/tGt	0	validated		probablydamaging	
LHX8		inserm.fr	GRCh37	1	75609621	75609621	+	synonymous_variant	Silent	SNP	A	G	G			CHC1182T																					ENST00000294638.5:c.702A>G	p.Ala234=	p.A234=	ENST00000294638	NM_001001933.1	234	gcA/gcG	0	not done		synonymous	
MAGEE1		inserm.fr	GRCh37	X	75650480	75650480	+	synonymous_variant	Silent	SNP	A	G	G			CHC1592T																					ENST00000361470.2:c.2157A>G	p.Ala719=	p.A719=	ENST00000361470	NM_020932.2	719	gcA/gcG	0	not done		synonymous	
MAN2C1		inserm.fr	GRCh37	15	75660485	75660485	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2034T																					ENST00000565683.1:c.156G>C	p.Glu52Asp	p.E52D	ENST00000565683	NM_001256494.1	52	gaG/gaC	0	validated		benign	
SLC44A5		inserm.fr	GRCh37	1	75681475	75681475	+	synonymous_variant	Silent	SNP	A	G	G			CHC1744T																					ENST00000370855.5:c.1692T>C	p.Asn564=	p.N564=	ENST00000370855	NM_152697.4	564	aaT/aaC	0	not done		synonymous	
DSP		inserm.fr	GRCh37	6	7570758	7570758	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC909T																					ENST00000379802.3:c.1663A>G	p.Ile555Val	p.I555V	ENST00000379802	NM_004415.2	555	Att/Gtt	0	not done		probablydamaging	
DSP		inserm.fr	GRCh37	6	7574998	7574998	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2127T																					ENST00000379802.3:c.2406T>G	p.Asp802Glu	p.D802E	ENST00000379802	NM_004415.2	802	gaT/gaG	0	not done		possiblydamaging	
TP53		inserm.fr	GRCh37	17	7576852	7576852	+	splice_donor_variant	Splice_Site	SNP	C	G	G			CHC736T									Valid												ENST00000269305.4:c.993+1G>C		p.X331_splice	ENST00000269305	NM_001126112.2			0	validated		damaging	
TP53		inserm.fr	GRCh37	17	7577080	7577080	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1732T									Valid												ENST00000269305.4:c.858A>C	p.Glu286Asp	p.E286D	ENST00000269305	NM_001126112.2	286	gaA/gaC	0	not done		probablydamaging	
TP53		inserm.fr	GRCh37	17	7577115	7577115	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM439T									Valid												ENST00000269305.4:c.823T>C	p.Cys275Arg	p.C275R	ENST00000269305	NM_001126112.2	275	Tgt/Cgt	0	validated		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578265	7578265	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM567T									Valid												ENST00000269305.4:c.584T>C	p.Ile195Thr	p.I195T	ENST00000269305	NM_001126112.2	195	aTc/aCc	0	validated		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578412	7578412	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM791T																					ENST00000269305.4:c.518T>C	p.Val173Ala	p.V173A	ENST00000269305	NM_001126112.2	173	gTg/gCg	0	validated		probablydamaging	
ZNF717		inserm.fr	GRCh37	3	75787313	75787313	+	synonymous_variant	Silent	SNP	C	G	G			CHC1704T																					ENST00000422325.1:c.1461G>C	p.Thr487=	p.T487=	ENST00000422325	NM_001128223.1	487	acG/acC	0	not done		synonymous	
DSP		inserm.fr	GRCh37	6	7584339	7584339	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2351T																					ENST00000379802.3:c.6844T>G	p.Leu2282Val	p.L2282V	ENST00000379802	NM_004415.2	2282	Tta/Gta	0	not done		probablydamaging	
UVRAG		inserm.fr	GRCh37	11	75851995	75851995	+	synonymous_variant	Silent	SNP	T	G	G			CHC2141T																					ENST00000356136.3:c.1638T>G	p.Ser546=	p.S546=	ENST00000356136	NM_003369.3	546	tcT/tcG	0	not done		synonymous	
ZNF358		inserm.fr	GRCh37	19	7585760	7585760	+	synonymous_variant	Silent	SNP	C	G	G			CHC794T																					ENST00000597229.1:c.1632C>G	p.Val544=	p.V544=	ENST00000597229	NM_018083.4	544	gtC/gtG	0	validated		synonymous	
VCL		inserm.fr	GRCh37	10	75874616	75874616	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1531T																					ENST00000211998.4:c.3217A>G	p.Met1073Val	p.M1073V	ENST00000211998	NM_014000.2	1073	Atg/Gtg	0	not done		possiblydamaging	
SNRNP48		inserm.fr	GRCh37	6	7590645	7590645	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC2216T																					ENST00000342415.5:c.155A>G	p.Glu52Gly	p.E52G	ENST00000342415	NM_152551.3	52	gAg/gGg	0	validated		possiblydamaging	
TMEM30A		inserm.fr	GRCh37	6	75965940	75965940	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1715T																					ENST00000230461.6:c.964A>C	p.Asn322His	p.N322H	ENST00000230461	NM_018247.3	322	Aat/Cat	0	not done		probablydamaging	
PRKRIR		inserm.fr	GRCh37	11	76062915	76062915	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2200T																					ENST00000260045.3:c.1279T>C	p.Trp427Arg	p.W427R	ENST00000260045	NM_004705.2	427	Tgg/Cgg	0	validated		probablydamaging	
TNRC6C		inserm.fr	GRCh37	17	76083150	76083150	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000335749.4:c.3769A>G	p.Asn1257Asp	p.N1257D	ENST00000335749	NM_001142640.1	1257	Aac/Gac	0	not done		benign	
UCHL3		inserm.fr	GRCh37	13	76123967	76123967	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1035T																					ENST00000377595.3:c.11A>G	p.Gln4Arg	p.Q4R	ENST00000377595	NM_006002.4	4	cAa/cGa	0	validated		benign	
F2RL1		inserm.fr	GRCh37	5	76129463	76129463	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1704T																					ENST00000296677.4:c.1031A>G	p.Tyr344Cys	p.Y344C	ENST00000296677	NM_005242.4	344	tAt/tGt	0	not done		probablydamaging	
ADK		inserm.fr	GRCh37	10	76158296	76158296	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1530T																					ENST00000286621.2:c.514A>G	p.Asn172Asp	p.N172D	ENST00000286621	NM_006721.3	172	Aac/Gac	0	not done		possiblydamaging	
S100Z		inserm.fr	GRCh37	5	76171272	76171272	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1207T																					ENST00000317593.4:c.88A>G	p.Ser30Gly	p.S30G	ENST00000317593	NM_130772.3	30	Agc/Ggc	0	not done		benign	
FBXO22		inserm.fr	GRCh37	15	76225269	76225269	+	synonymous_variant	Silent	SNP	A	G	G			BCM711T																					ENST00000308275.3:c.1038A>G	p.Arg346=	p.R346=	ENST00000308275	NM_147188.2	346	agA/agG	0	validated		synonymous	
ADCY2		inserm.fr	GRCh37	5	7626314	7626314	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1738T																					ENST00000338316.4:c.605A>G	p.Asn202Ser	p.N202S	ENST00000338316	NM_020546.2	202	aAc/aGc	0	not done		possiblydamaging	
ADK		inserm.fr	GRCh37	10	76360151	76360151	+	synonymous_variant	Silent	SNP	A	G	G			CHC1040T																					ENST00000286621.2:c.777A>G	p.Lys259=	p.K259=	ENST00000286621	NM_006721.3	259	aaA/aaG	0	not done		synonymous	
TTLL5		inserm.fr	GRCh37	14	76420789	76420789	+	stop_lost	Nonstop_Mutation	SNP	A	G	G			BCM371T																					ENST00000298832.9:c.3846A>G	p.Ter1282TrpextTer30	p.*1282Wext*30	ENST00000298832	NM_015072.4	1282	tgA/tgG	0	validated			
PHLDA1		inserm.fr	GRCh37	12	76424732	76424732	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC510T									Valid												ENST00000266671.5:c.790T>C	p.Phe264Leu	p.F264L	ENST00000266671		264	Ttt/Ctt	0	validated		probablydamaging	
IFT43		inserm.fr	GRCh37	14	76452167	76452167	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC327T																					ENST00000238628.6:c.38A>G	p.Tyr13Cys	p.Y13C	ENST00000238628	NM_052873.2	13	tAc/tGc	0	validated		probablydamaging	
HNF4G		inserm.fr	GRCh37	8	76463627	76463627	+	synonymous_variant	Silent	SNP	A	G	G			BCM257T																					ENST00000396423.2:c.357A>G	p.Val119=	p.V119=	ENST00000396423	NM_004133.4	119	gtA/gtG	0	validated		synonymous	
DNAH2		inserm.fr	GRCh37	17	7646427	7646427	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM339T																					ENST00000572933.1:c.1871A>G	p.Glu624Gly	p.E624G	ENST00000572933		624	gAg/gGg	0	validated		benign	
PPFIBP2		inserm.fr	GRCh37	11	7652176	7652176	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1201T																					ENST00000299492.4:c.985T>G	p.Ser329Ala	p.S329A	ENST00000299492	NM_003621.3	329	Tca/Gca	0	not done		benign	
ETFA		inserm.fr	GRCh37	15	76578813	76578813	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2034T																					ENST00000557943.1:c.461T>C	p.Leu154Pro	p.L154P	ENST00000557943	NM_000126.3	154	cTa/cCa	0	not done		probablydamaging	
GPATCH2L		inserm.fr	GRCh37	14	76621167	76621167	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2098T																					ENST00000261530.7:c.461A>G	p.Tyr154Cys	p.Y154C	ENST00000261530	NM_017926.2	154	tAt/tGt	0	not done		probablydamaging	
IMPG1		inserm.fr	GRCh37	6	76713598	76713598	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1182T																					ENST00000369950.3:c.1205T>C	p.Ile402Thr	p.I402T	ENST00000369950	NM_001563.2	402	aTa/aCa	0	not done		benign	
BBS10		inserm.fr	GRCh37	12	76740824	76740824	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T									Valid												ENST00000393262.3:c.941A>C	p.Lys314Thr	p.K314T	ENST00000393262	NM_024685.3	314	aAa/aCa	0	validated		possiblydamaging	
DUPD1		inserm.fr	GRCh37	10	76797674	76797674	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM339T																					ENST00000338487.5:c.583G>C	p.Glu195Gln	p.E195Q	ENST00000338487	NM_001003892.1	195	Gag/Cag	0	validated		probablydamaging	
OMP		inserm.fr	GRCh37	11	76814177	76814177	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2113T																					ENST00000529803.1:c.292C>G	p.Gln98Glu	p.Q98E	ENST00000529803	NM_006189.1	98	Cag/Gag	0	not done		probablydamaging	
MYO7A		inserm.fr	GRCh37	11	76890893	76890893	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC879T																					ENST00000409709.3:c.2480A>G	p.Tyr827Cys	p.Y827C	ENST00000409709	NM_000260.3	827	tAt/tGt	0	not done		probablydamaging	
ATRX		inserm.fr	GRCh37	X	76907630	76907630	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC796T									Valid												ENST00000373344.5:c.4531G>C	p.Glu1511Gln	p.E1511Q	ENST00000373344	NM_000489.3	1511	Gag/Cag	0	validated		probablydamaging	
ENGASE		inserm.fr	GRCh37	17	77080641	77080641	+	synonymous_variant	Silent	SNP	A	G	G			CHC1725T																					ENST00000579016.1:c.1464A>G	p.Pro488=	p.P488=	ENST00000579016	NM_001042573.2	488	ccA/ccG	0	not done		synonymous	
ATP7A		inserm.fr	GRCh37	X	77244868	77244868	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1592T																					ENST00000341514.6:c.750T>G	p.Ile250Met	p.I250M	ENST00000341514	NM_000052.5	250	atT/atG	0	not done		possiblydamaging	
CAMTA1		inserm.fr	GRCh37	1	7724839	7724839	+	synonymous_variant	Silent	SNP	C	G	G			CHC892T																					ENST00000303635.7:c.2232C>G	p.Leu744=	p.L744=	ENST00000303635	NM_015215.2	744	ctC/ctG	0	not done		synonymous	
ANGEL1		inserm.fr	GRCh37	14	77279116	77279116	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1028T																					ENST00000251089.2:c.55G>C	p.Ala19Pro	p.A19P	ENST00000251089	NM_015305.3	19	Gcc/Ccc	0	not done		possiblydamaging	
TAF9B		inserm.fr	GRCh37	X	77393369	77393369	+	synonymous_variant	Silent	SNP	A	G	G			CHC1745T																					ENST00000341864.5:c.282T>C	p.Asp94=	p.D94=	ENST00000341864	NM_015975.4	94	gaT/gaC	0	validated		synonymous	
TRPM6		inserm.fr	GRCh37	9	77415253	77415253	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC314T									Valid												ENST00000360774.1:c.2155T>C	p.Phe719Leu	p.F719L	ENST00000360774	NM_017662.4	719	Ttt/Ctt	0	validated		probablydamaging	
E2F7		inserm.fr	GRCh37	12	77438571	77438571	+	synonymous_variant	Silent	SNP	A	G	G			CHC1186T																					ENST00000322886.7:c.834T>C	p.Ser278=	p.S278=	ENST00000322886	NM_203394.2	278	tcT/tcC	0	not done		synonymous	
IRF2BPL		inserm.fr	GRCh37	14	77491926	77491926	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC320T																					ENST00000238647.3:c.2210A>C	p.Lys737Thr	p.K737T	ENST00000238647	NM_024496.3	737	aAa/aCa	0	validated		probablydamaging	
KIAA1737		inserm.fr	GRCh37	14	77579843	77579843	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM703T																					ENST00000361786.2:c.382T>G	p.Leu128Val	p.L128V	ENST00000361786	NM_033426.2	128	Tta/Gta	0	validated		benign	
ROBO2		inserm.fr	GRCh37	3	77629263	77629263	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC909T																					ENST00000487694.3:c.2542A>G	p.Ile848Val	p.I848V	ENST00000487694	NM_001128929.2	848	Ata/Gta	0	not done		benign	
MYCBP2		inserm.fr	GRCh37	13	77671560	77671560	+	synonymous_variant	Silent	SNP	C	G	G			CHC796T																					ENST00000544440.2:c.9615G>C	p.Leu3205=	p.L3205=	ENST00000544440		3205	ctG/ctC	0	validated		synonymous	
MYCBP2		inserm.fr	GRCh37	13	77718681	77718681	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1201T																					ENST00000544440.2:c.7088T>C	p.Met2363Thr	p.M2363T	ENST00000544440		2363	aTg/aCg	0	not done		possiblydamaging	
LRRTM4		inserm.fr	GRCh37	2	77745939	77745939	+	synonymous_variant	Silent	SNP	A	G	G			CHC923T																					ENST00000409093.1:c.1056T>C	p.Asp352=	p.D352=	ENST00000409093		352	gaT/gaC	0	not done		synonymous	
LRRTM4		inserm.fr	GRCh37	2	77746031	77746031	+	synonymous_variant	Silent	SNP	A	G	G			CHC796T																					ENST00000409093.1:c.964T>C	p.Leu322=	p.L322=	ENST00000409093		322	Tta/Cta	0	validated		synonymous	
MAGI2		inserm.fr	GRCh37	7	77755067	77755067	+	synonymous_variant	Silent	SNP	A	G	G			CHC796T																					ENST00000354212.4:c.3511T>C	p.Leu1171=	p.L1171=	ENST00000354212	NM_012301.3	1171	Ttg/Ctg	0	validated		synonymous	
ZFHX4		inserm.fr	GRCh37	8	77764124	77764124	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC801T																					ENST00000521891.2:c.4967C>G	p.Ala1656Gly	p.A1656G	ENST00000521891	NM_024721.4	1656	gCa/gGa	0	not done		benign	
MAGI2		inserm.fr	GRCh37	7	77797353	77797353	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC429T																					ENST00000354212.4:c.2476G>C	p.Val826Leu	p.V826L	ENST00000354212	NM_012301.3	826	Gtg/Ctg	0	validated		benign	
LHFPL2		inserm.fr	GRCh37	5	77805748	77805748	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1734T																					ENST00000380345.2:c.289T>C	p.Trp97Arg	p.W97R	ENST00000380345	NM_005779.2	97	Tgg/Cgg	0	not done		probablydamaging	
CBX4		inserm.fr	GRCh37	17	77807927	77807927	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC197T																					ENST00000269397.4:c.1514T>C	p.Val505Ala	p.V505A	ENST00000269397	NM_003655.2	505	gTg/gCg	0	validated		benign	
MYCBP2		inserm.fr	GRCh37	13	77847657	77847657	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2029T																					ENST00000544440.2:c.781A>C	p.Ile261Leu	p.I261L	ENST00000544440		261	Atc/Ctc	0	not done		benign	
AK5		inserm.fr	GRCh37	1	77876723	77876723	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2216T																					ENST00000354567.2:c.949A>G	p.Asn317Asp	p.N317D	ENST00000354567	NM_174858.2	317	Aac/Gac	0	not done		benign	
MAGI2		inserm.fr	GRCh37	7	77885515	77885515	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC155T																					ENST00000354212.4:c.1792G>C	p.Ala598Pro	p.A598P	ENST00000354212	NM_012301.3	598	Gcc/Ccc	0	validated		probablydamaging	
LINGO1		inserm.fr	GRCh37	15	77908048	77908048	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1154T																					ENST00000355300.6:c.201G>C	p.Glu67Asp	p.E67D	ENST00000355300	NM_032808.5	67	gaG/gaC	0	not done		benign	
CCDC40		inserm.fr	GRCh37	17	78063996	78063996	+	intron_variant	Intron	SNP	A	G	G			BCB301T																					ENST00000397545.4:c.2832+313A>G		*944*	ENST00000397545	NM_017950.3			0	validated			
CHD3		inserm.fr	GRCh37	17	7812076	7812076	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC155T									Valid												ENST00000380358.4:c.5500C>G	p.Pro1834Ala	p.P1834A	ENST00000380358	NM_001005271.2	1834	Cca/Gca	0	validated		probablydamaging	
SLC26A11		inserm.fr	GRCh37	17	78210836	78210836	+	synonymous_variant	Silent	SNP	A	G	G			CHC326T																					ENST00000361193.3:c.846A>G	p.Pro282=	p.P282=	ENST00000361193	NM_001166347.1	282	ccA/ccG	0	validated		synonymous	
TBC1D2B		inserm.fr	GRCh37	15	78305516	78305516	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC923T																					ENST00000300584.3:c.1919A>C	p.Tyr640Ser	p.Y640S	ENST00000300584	NM_144572.1	640	tAt/tCt	0	not done		probablydamaging	
DMGDH		inserm.fr	GRCh37	5	78324424	78324424	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1531T																					ENST00000255189.3:c.1864A>C	p.Asn622His	p.N622H	ENST00000255189	NM_013391.3	622	Aac/Cac	0	not done		probablydamaging	
RNF213		inserm.fr	GRCh37	17	78332273	78332273	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM423T																					ENST00000582970.1:c.11048A>G	p.Asn3683Ser	p.N3683S	ENST00000582970	NM_001256071.1	3683	aAt/aGt	0	validated		benign	
DMGDH		inserm.fr	GRCh37	5	78350172	78350172	+	splice_acceptor_variant	Splice_Site	SNP	C	G	G			CHC1182T																					ENST00000255189.3:c.376-1G>C		p.X126_splice	ENST00000255189	NM_013391.3			0	not done		damaging	
CFAP90		inserm.fr	GRCh37	5	7835521	7835521	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC437T																					ENST00000399810.2:c.238A>C	p.Ser80Arg	p.S80R	ENST00000399810	NM_001089584.2	80	Agc/Cgc	0	not done		possiblydamaging	
RNF213		inserm.fr	GRCh37	17	78356811	78356811	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC917T																					ENST00000582970.1:c.14011A>G	p.Lys4671Glu	p.K4671E	ENST00000582970	NM_001256071.1	4671	Aaa/Gaa	0	validated		probablydamaging	
BHMT2		inserm.fr	GRCh37	5	78373382	78373382	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1915T									Valid												ENST00000255192.3:c.113A>G	p.Tyr38Cys	p.Y38C	ENST00000255192	NM_017614.4	38	tAt/tGt	0	validated		probablydamaging	
NEXN		inserm.fr	GRCh37	1	78392561	78392561	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1182T																					ENST00000334785.7:c.848A>G	p.Glu283Gly	p.E283G	ENST00000334785	NM_144573.3	283	gAa/gGa	0	not done		probablydamaging	
NAV3		inserm.fr	GRCh37	12	78400394	78400394	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1594T																					ENST00000536525.2:c.1076C>G	p.Pro359Arg	p.P359R	ENST00000536525	NM_014903.4	359	cCc/cGc	0	not done		probablydamaging	
FUBP1		inserm.fr	GRCh37	1	78444635	78444635	+	synonymous_variant	Silent	SNP	A	G	G			CHC2200T																					ENST00000370768.2:c.54T>C	p.Gly18=	p.G18=	ENST00000370768	NM_003902.3	18	ggT/ggC	0	validated		synonymous	
EDNRB		inserm.fr	GRCh37	13	78470650	78470650	+	3_prime_UTR_variant	3'UTR	SNP	A	G	G			BCB167T																					ENST00000377211.4:c.*1685T>C		*562*	ENST00000377211	NM_001201397.1			0	validated			
EDNRB		inserm.fr	GRCh37	13	78472450	78472450	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM783T																					ENST00000377211.4:c.1484G>C	p.Cys495Ser	p.C495S	ENST00000377211	NM_001201397.1	495	tGc/tCc	0	validated		probablydamaging	
ACSBG1		inserm.fr	GRCh37	15	78473205	78473205	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1205T																					ENST00000258873.4:c.1145T>C	p.Ile382Thr	p.I382T	ENST00000258873	NM_001199377.1	382	aTc/aCc	0	not done		possiblydamaging	
ACSBG1		inserm.fr	GRCh37	15	78475090	78475090	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T																					ENST00000258873.4:c.701T>C	p.Ile234Thr	p.I234T	ENST00000258873	NM_001199377.1	234	aTa/aCa	0	validated		benign	
NAV3		inserm.fr	GRCh37	12	78516113	78516113	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000536525.2:c.4143C>G	p.Ser1381Arg	p.S1381R	ENST00000536525	NM_014903.4	1381	agC/agG	0	not done		probablydamaging	
MTRR		inserm.fr	GRCh37	5	7878142	7878142	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1061T																					ENST00000264668.2:c.568A>G	p.Ile190Val	p.I190V	ENST00000264668	NM_024010.2	190	Ata/Gta	0	validated		benign	
RPTOR		inserm.fr	GRCh37	17	78820287	78820287	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC432T																					ENST00000306801.3:c.1227C>G	p.Phe409Leu	p.F409L	ENST00000306801	NM_020761.2	409	ttC/ttG	0	not done		probablydamaging	
PER3		inserm.fr	GRCh37	1	7886729	7886729	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC898T																					ENST00000361923.2:c.2123A>G	p.Gln708Arg	p.Q708R	ENST00000361923	NM_016831.1	708	cAg/cGg	0	not done		probablydamaging	
PER3		inserm.fr	GRCh37	1	7887260	7887260	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1055T																					ENST00000361923.2:c.2247C>G	p.Asp749Glu	p.D749E	ENST00000361923	NM_016831.1	749	gaC/gaG	0	validated		possiblydamaging	
CMYA5		inserm.fr	GRCh37	5	79034310	79034310	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000446378.2:c.9722A>G	p.Tyr3241Cys	p.Y3241C	ENST00000446378	NM_153610.3	3241	tAc/tGc	0	validated		probablydamaging	
CMYA5		inserm.fr	GRCh37	5	79035197	79035197	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1749T																					ENST00000446378.2:c.10609A>G	p.Thr3537Ala	p.T3537A	ENST00000446378	NM_153610.3	3537	Acg/Gcg	0	not done		benign	
ADAMTS7		inserm.fr	GRCh37	15	79063982	79063982	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC327T																					ENST00000388820.4:c.2321G>C	p.Gly774Ala	p.G774A	ENST00000388820	NM_014272.3	774	gGc/gCc	0	validated		possiblydamaging	
EVI5L		inserm.fr	GRCh37	19	7911478	7911478	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC794T									Valid												ENST00000538904.2:c.50C>G	p.Ser17Trp	p.S17W	ENST00000538904	NM_001159944.1	17	tCg/tGg	0	validated		probablydamaging	
REG3G		inserm.fr	GRCh37	2	79254291	79254291	+	synonymous_variant	Silent	SNP	C	G	G			CHC433T																					ENST00000272324.5:c.327C>G	p.Pro109=	p.P109=	ENST00000272324	NM_001008387.2	109	ccC/ccG	0	validated		synonymous	
PRUNE2		inserm.fr	GRCh37	9	79318345	79318345	+	synonymous_variant	Silent	SNP	T	G	G			CHC1186T																					ENST00000376718.3:c.8184A>C	p.Pro2728=	p.P2728=	ENST00000376718	NM_015225.2	2728	ccA/ccC	0	not done		synonymous	
PRUNE2		inserm.fr	GRCh37	9	79321466	79321466	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM265T									Valid												ENST00000376718.3:c.5724G>C	p.Trp1908Cys	p.W1908C	ENST00000376718	NM_015225.2	1908	tgG/tgC	0	validated		possiblydamaging	
BAHCC1		inserm.fr	GRCh37	17	79409180	79409180	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1744T																					ENST00000307745.7:c.805C>G	p.Pro269Ala	p.P269A	ENST00000307745		269	Ccc/Gcc	0	validated		probablydamaging	
C17orf70		inserm.fr	GRCh37	17	79514197	79514197	+	synonymous_variant	Silent	SNP	A	G	G			CHC736T																					ENST00000327787.8:c.1911T>C	p.Gly637=	p.G637=	ENST00000327787		637	ggT/ggC	0	validated		synonymous	
C17orf70		inserm.fr	GRCh37	17	79514617	79514617	+	synonymous_variant	Silent	SNP	C	G	G			BCM735T																					ENST00000327787.8:c.1491G>C	p.Leu497=	p.L497=	ENST00000327787		497	ctG/ctC	0	validated		synonymous	
TMED3		inserm.fr	GRCh37	15	79614420	79614420	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2098T																					ENST00000299705.5:c.518A>G	p.Glu173Gly	p.E173G	ENST00000299705	NM_007364.2	173	gAa/gGa	0	not done		probablydamaging	
PHIP		inserm.fr	GRCh37	6	79671446	79671446	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2216T																					ENST00000275034.4:c.3617T>C	p.Leu1206Pro	p.L1206P	ENST00000275034	NM_017934.5	1206	cTa/cCa	0	not done		probablydamaging	
ZFYVE16		inserm.fr	GRCh37	5	79734575	79734575	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC361TA																					ENST00000338008.5:c.2071A>G	p.Ile691Val	p.I691V	ENST00000338008	NM_014733.3	691	Ata/Gta	0	validated		benign	
ZFYVE16		inserm.fr	GRCh37	5	79744130	79744130	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC302T																					ENST00000338008.5:c.3010A>G	p.Ile1004Val	p.I1004V	ENST00000338008	NM_014733.3	1004	Att/Gtt	0	validated		benign	
ARHGDIA		inserm.fr	GRCh37	17	79827421	79827421	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC609T																					ENST00000269321.7:c.271A>C	p.Thr91Pro	p.T91P	ENST00000269321	NM_001185078.1	91	Acg/Ccg	0	validated		benign	
BMP2K		inserm.fr	GRCh37	4	79833114	79833114	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC909T																					ENST00000335016.5:c.3413C>G	p.Pro1138Arg	p.P1138R	ENST00000335016	NM_198892.1	1138	cCa/cGa	0	not done		possiblydamaging	
ANAPC11		inserm.fr	GRCh37	17	79857221	79857221	+	synonymous_variant	Silent	SNP	T	G	G			CHC2213T																					ENST00000357385.3:c.213T>G	p.Ala71=	p.A71=	ENST00000357385	NM_001002244.1	71	gcT/gcG	0	validated		synonymous	
RBM26		inserm.fr	GRCh37	13	79911235	79911235	+	splice_donor_variant	Splice_Site	SNP	A	G	G			BCM399T									Valid												ENST00000267229.7:c.2652+2T>C		p.X884_splice	ENST00000267229	NM_022118.3			0	validated		damaging	
LRRC45		inserm.fr	GRCh37	17	79985302	79985302	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC432T																					ENST00000306688.3:c.815A>G	p.Glu272Gly	p.E272G	ENST00000306688	NM_144999.2	272	gAg/gGg	0	not done		probablydamaging	
TIMM44		inserm.fr	GRCh37	19	7999948	7999948	+	splice_donor_variant	Splice_Site	SNP	A	G	G			CHC433T									Valid												ENST00000270538.3:c.393+2T>C		p.X131_splice	ENST00000270538	NM_006351.3			0	validated		damaging	
RFNG		inserm.fr	GRCh37	17	80006623	80006623	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM783T																					ENST00000310496.4:c.975G>C	p.Gln325His	p.Q325H	ENST00000310496	NM_002917.1	325	caG/caC	0	validated		benign	
MSH3		inserm.fr	GRCh37	5	80037363	80037363	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2208T																					ENST00000265081.6:c.1649A>G	p.Asn550Ser	p.N550S	ENST00000265081	NM_002439.4	550	aAt/aGt	0	not done		probablydamaging	
FASN		inserm.fr	GRCh37	17	80040231	80040231	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1744T																					ENST00000306749.2:c.5979G>C	p.Lys1993Asn	p.K1993N	ENST00000306749	NM_004104.4	1993	aaG/aaC	0	not done		probablydamaging	
FASN		inserm.fr	GRCh37	17	80049131	80049131	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1754T																					ENST00000306749.2:c.1459G>C	p.Ala487Pro	p.A487P	ENST00000306749	NM_004104.4	487	Gct/Cct	0	not done		benign	
MSH3		inserm.fr	GRCh37	5	80063832	80063832	+	synonymous_variant	Silent	SNP	T	G	G			CHC320T																					ENST00000265081.6:c.1977T>G	p.Val659=	p.V659=	ENST00000265081	NM_002439.4	659	gtT/gtG	0	validated		synonymous	
TAF3		inserm.fr	GRCh37	10	8007490	8007490	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2358T																					ENST00000344293.5:c.2017A>G	p.Arg673Gly	p.R673G	ENST00000344293	NM_031923.3	673	Agg/Ggg	0	validated		possiblydamaging	
CCDC57		inserm.fr	GRCh37	17	80130609	80130609	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1183T																					ENST00000392343.3:c.1634T>C	p.Leu545Pro	p.L545P	ENST00000392343		545	cTa/cCa	0	validated		probablydamaging	
LCA5		inserm.fr	GRCh37	6	80196920	80196920	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC703T																					ENST00000392959.1:c.1895G>C	p.Gly632Ala	p.G632A	ENST00000392959	NM_181714.3	632	gGa/gCa	0	validated		probablydamaging	
OGFOD3		inserm.fr	GRCh37	17	80364359	80364359	+	splice_acceptor_variant	Splice_Site	SNP	C	G	G			CHC1534T																					ENST00000329197.5:c.424-1G>C		p.X142_splice	ENST00000329197				0	validated		damaging	
STMN2		inserm.fr	GRCh37	8	80567140	80567140	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC097T																					ENST00000518111.1:c.323A>G	p.Glu108Gly	p.E108G	ENST00000518111		108	gAg/gGg	0	not done		possiblydamaging	
ZCCHC9		inserm.fr	GRCh37	5	80600633	80600633	+	synonymous_variant	Silent	SNP	A	G	G			BCM397T																					ENST00000254037.2:c.57A>G	p.Thr19=	p.T19=	ENST00000254037		19	acA/acG	0	validated		synonymous	
ELOVL4		inserm.fr	GRCh37	6	80626334	80626334	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM375T									Valid												ENST00000369816.4:c.936A>C	p.Lys312Asn	p.K312N	ENST00000369816	NM_022726.3	312	aaA/aaC	0	validated		probablydamaging	
TTK		inserm.fr	GRCh37	6	80717610	80717610	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1763T																					ENST00000369798.2:c.224A>G	p.Asn75Ser	p.N75S	ENST00000369798	NM_003318.4	75	aAc/aGc	0	not done		benign	
ERRFI1		inserm.fr	GRCh37	1	8075434	8075434	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC218T																					ENST00000377482.5:c.136A>C	p.Asn46His	p.N46H	ENST00000377482	NM_018948.3	46	Aat/Cat	0	validated		probablydamaging	
CTNNA2		inserm.fr	GRCh37	2	80835429	80835429	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1209T																					ENST00000466387.1:c.2416C>G	p.Leu806Val	p.L806V	ENST00000466387		806	Ctc/Gtc	0	not done		probablydamaging	
SPRY2		inserm.fr	GRCh37	13	80910952	80910952	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2216T																					ENST00000377102.1:c.889A>C	p.Asn297His	p.N297H	ENST00000377102		297	Aac/Cac	0	not done		probablydamaging	
MYF5		inserm.fr	GRCh37	12	81112820	81112820	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM791T																					ENST00000228644.3:c.758A>G	p.His253Arg	p.H253R	ENST00000228644	NM_005593.2	253	cAt/cGt	0	validated		probablydamaging	
CEP128		inserm.fr	GRCh37	14	81209475	81209475	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T																					ENST00000555265.1:c.2750T>C	p.Phe917Ser	p.F917S	ENST00000555265		917	tTt/tCt	0	validated		probablydamaging	
BCMO1		inserm.fr	GRCh37	16	81279138	81279138	+	synonymous_variant	Silent	SNP	A	G	G			CHC798T																					ENST00000258168.2:c.123A>G	p.Thr41=	p.T41=	ENST00000258168	NM_017429.2	41	acA/acG	0	validated		synonymous	
CEP128		inserm.fr	GRCh37	14	81307092	81307092	+	synonymous_variant	Silent	SNP	A	G	G			BCM337T																					ENST00000555265.1:c.783T>C	p.Ala261=	p.A261=	ENST00000555265		261	gcT/gcC	0	validated		synonymous	
HGF		inserm.fr	GRCh37	7	81374397	81374397	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC879T																					ENST00000222390.5:c.665T>C	p.Leu222Pro	p.L222P	ENST00000222390	NM_000601.4	222	cTc/cCc	0	not done		benign	
ATG10		inserm.fr	GRCh37	5	81549237	81549237	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2321T																					ENST00000282185.3:c.656T>G	p.Val219Gly	p.V219G	ENST00000282185	NM_031482.4	219	gTc/gGc	0	validated		benign	
CMIP		inserm.fr	GRCh37	16	81641263	81641263	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2211T																					ENST00000537098.3:c.392A>G	p.Gln131Arg	p.Q131R	ENST00000537098	NM_198390.2	131	cAg/cGg	0	not done		possiblydamaging	
ACSS3		inserm.fr	GRCh37	12	81647408	81647408	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC306T									Valid												ENST00000548058.1:c.1954C>G	p.Arg652Gly	p.R652G	ENST00000548058		652	Cga/Gga	0	validated		probablydamaging	
TMEM254		inserm.fr	GRCh37	10	81838864	81838864	+	intron_variant	Intron	SNP	A	G	G			CHC1753T																					ENST00000372281.3:c.87+322A>G		*29*	ENST00000372281	NM_001270372.1			0	not done			
FBN3		inserm.fr	GRCh37	19	8196578	8196578	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1154T																					ENST00000600128.1:c.1850G>C	p.Arg617Pro	p.R617P	ENST00000600128		617	cGc/cCc	0	not done		probablydamaging	
BMP3		inserm.fr	GRCh37	4	81967104	81967104	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC155T																					ENST00000282701.2:c.529A>G	p.Ser177Gly	p.S177G	ENST00000282701	NM_001201.2	177	Agt/Ggt	0	validated		possiblydamaging	
PRKG2		inserm.fr	GRCh37	4	82061789	82061789	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2141T																					ENST00000395578.1:c.1442T>C	p.Met481Thr	p.M481T	ENST00000395578		481	aTg/aCg	0	not done		possiblydamaging	
C3AR1		inserm.fr	GRCh37	12	8211737	8211737	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC303T									Valid												ENST00000307637.4:c.1045T>C	p.Ser349Pro	p.S349P	ENST00000307637	NM_004054.2	349	Tct/Cct	0	validated		possiblydamaging	
ARHGEF15		inserm.fr	GRCh37	17	8215946	8215946	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2098T																					ENST00000361926.3:c.589A>G	p.Asn197Asp	p.N197D	ENST00000361926	NM_173728.3	197	Aac/Gac	0	validated		probablydamaging	
TSPAN14		inserm.fr	GRCh37	10	82267003	82267003	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1211T																					ENST00000429989.3:c.152C>G	p.Thr51Ser	p.T51S	ENST00000429989	NM_030927.2	51	aCc/aGc	0	not done		probablydamaging	
LPHN2		inserm.fr	GRCh37	1	82433765	82433765	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC879T																					ENST00000319517.6:c.2354T>G	p.Met785Arg	p.M785R	ENST00000319517	NM_012302.2	785	aTg/aGg	0	not done		probablydamaging	
FABP12		inserm.fr	GRCh37	8	82441745	82441745	+	synonymous_variant	Silent	SNP	A	G	G			CHC433T																					ENST00000360464.4:c.174T>C	p.Phe58=	p.F58=	ENST00000360464	NM_001105281.1	58	ttT/ttC	0	validated		synonymous	
ZDHHC11		inserm.fr	GRCh37	5	825360	825360	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1602T																					ENST00000283441.8:c.942A>C	p.Lys314Asn	p.K314N	ENST00000283441	NM_024786.2	314	aaA/aaC	0	not done		possiblydamaging	
PCLO		inserm.fr	GRCh37	7	82580534	82580534	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2052T																					ENST00000333891.9:c.9370G>C	p.Ala3124Pro	p.A3124P	ENST00000333891	NM_033026.5	3124	Gct/Cct	0	not done		benign	
PCLO		inserm.fr	GRCh37	7	82584864	82584864	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2141T																					ENST00000333891.9:c.5405G>C	p.Ser1802Thr	p.S1802T	ENST00000333891	NM_033026.5	1802	aGt/aCt	0	not done		benign	
PCLO		inserm.fr	GRCh37	7	82585085	82585085	+	synonymous_variant	Silent	SNP	A	G	G			CHC1715T																					ENST00000333891.9:c.5184T>C	p.Gly1728=	p.G1728=	ENST00000333891	NM_033026.5	1728	ggT/ggC	0	not done		synonymous	
CCDC59		inserm.fr	GRCh37	12	82748278	82748278	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC451T																					ENST00000256151.7:c.560A>C	p.Lys187Thr	p.K187T	ENST00000256151	NM_014167.4	187	aAa/aCa	0	validated		probablydamaging	
POU3F4		inserm.fr	GRCh37	X	82763359	82763359	+	stop_gained	Nonsense_Mutation	SNP	C	G	G			CHC1185T																					ENST00000373200.2:c.27C>G	p.Tyr9Ter	p.Y9*	ENST00000373200	NM_000307.4	9	taC/taG	0	not done		damaging	
POU3F4		inserm.fr	GRCh37	X	82763974	82763974	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM617T																					ENST00000373200.2:c.642C>G	p.Asp214Glu	p.D214E	ENST00000373200	NM_000307.4	214	gaC/gaG	0	validated		probablydamaging	
VCAN		inserm.fr	GRCh37	5	82837707	82837707	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1725T																					ENST00000265077.3:c.8885C>G	p.Thr2962Ser	p.T2962S	ENST00000265077	NM_004385.4	2962	aCt/aGt	0	not done		benign	
PCF11		inserm.fr	GRCh37	11	82877662	82877662	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC303T																					ENST00000298281.4:c.1723A>G	p.Thr575Ala	p.T575A	ENST00000298281	NM_015885.3	575	Aca/Gca	0	validated		benign	
PCF11		inserm.fr	GRCh37	11	82877693	82877693	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2351T																					ENST00000298281.4:c.1754T>G	p.Val585Gly	p.V585G	ENST00000298281	NM_015885.3	585	gTa/gGa	0	not done		benign	
CDH13		inserm.fr	GRCh37	16	82892035	82892035	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1065T									Valid												ENST00000268613.10:c.255C>G	p.Ile85Met	p.I85M	ENST00000268613		85	atC/atG	0	validated		probablydamaging	
EFCAB4A		inserm.fr	GRCh37	11	830120	830120	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1062T																					ENST00000450448.1:c.593A>G	p.Gln198Arg	p.Q198R	ENST00000450448	NM_173584.3	198	cAg/cGg	0	validated		probablydamaging	
DLG2		inserm.fr	GRCh37	11	83182723	83182723	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2043T																					ENST00000376104.2:c.2392A>C	p.Ile798Leu	p.I798L	ENST00000376104	NM_001142699.1	798	Atc/Ctc	0	not done		probablydamaging	
ENOPH1		inserm.fr	GRCh37	4	83375902	83375902	+	synonymous_variant	Silent	SNP	C	G	G			CHC1595T																					ENST00000273920.3:c.417C>G	p.Val139=	p.V139=	ENST00000273920	NM_021204.3	139	gtC/gtG	0	validated		synonymous	
HDGFRP3		inserm.fr	GRCh37	15	83820078	83820078	+	synonymous_variant	Silent	SNP	A	G	G			CHC2112T																					ENST00000299633.4:c.495T>C	p.Asp165=	p.D165=	ENST00000299633	NM_016073.3	165	gaT/gaC	0	not done		synonymous	
LIN54		inserm.fr	GRCh37	4	83849368	83849368	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC314T																					ENST00000340417.3:c.2137A>C	p.Lys713Gln	p.K713Q	ENST00000340417	NM_194282.2	713	Aaa/Caa	0	validated		benign	
RPS28		inserm.fr	GRCh37	19	8386421	8386421	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM683T																					ENST00000600659.2:c.7A>G	p.Thr3Ala	p.T3A	ENST00000600659	NM_001031.4	3	Acc/Gcc	0	validated		benign	
COPS4		inserm.fr	GRCh37	4	83970418	83970418	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1044T																					ENST00000264389.2:c.254A>G	p.Tyr85Cys	p.Y85C	ENST00000264389	NM_016129.2	85	tAt/tGt	0	not done		benign	
OSGIN1		inserm.fr	GRCh37	16	83999486	83999486	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1603T																					ENST00000361711.3:c.1308C>G	p.Ser436Arg	p.S436R	ENST00000361711		436	agC/agG	0	not done		possiblydamaging	
PTPRD		inserm.fr	GRCh37	9	8404654	8404654	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1746T																					ENST00000356435.5:c.4093G>C	p.Asp1365His	p.D1365H	ENST00000356435		1365	Gac/Cac	0	not done		probablydamaging	
ACOX3		inserm.fr	GRCh37	4	8418228	8418228	+	synonymous_variant	Silent	SNP	T	G	G			CHC059T																					ENST00000356406.5:c.21A>C	p.Gly7=	p.G7=	ENST00000356406	NM_003501.2	7	ggA/ggC	0	validated		synonymous	
LRRC50		inserm.fr	GRCh37	16	84183860	84183860	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC798T									Valid												ENST00000378553.5:c.265A>G	p.Thr89Ala	p.T89A	ENST00000378553	NM_178452.4	89	Act/Gct	0	validated		probablydamaging	
SH3GL3		inserm.fr	GRCh37	15	84287017	84287017	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC889T																					ENST00000427482.2:c.1022T>G	p.Val341Gly	p.V341G	ENST00000427482	NM_003027.3	341	gTg/gGg	0	not done		possiblydamaging	
VCX3B		inserm.fr	GRCh37	X	8434311	8434311	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC736T																					ENST00000381032.1:c.628A>G	p.Met210Val	p.M210V	ENST00000381032	NM_001001888.3	210	Atg/Gtg	0	validated		benign	
HELQ		inserm.fr	GRCh37	4	84350817	84350817	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1566T																					ENST00000295488.3:c.2378A>C	p.Lys793Thr	p.K793T	ENST00000295488	NM_133636.2	793	aAa/aCa	0	not done		benign	
PTPRD		inserm.fr	GRCh37	9	8436612	8436612	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1731T																					ENST00000356435.5:c.4066A>C	p.Lys1356Gln	p.K1356Q	ENST00000356435		1356	Aag/Cag	0	not done		benign	
CHTF18		inserm.fr	GRCh37	16	846056	846056	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC301T									Valid												ENST00000262315.9:c.2435A>G	p.Gln812Arg	p.Q812R	ENST00000262315	NM_022092.2	812	cAg/cGg	0	validated		probablydamaging	
SEMA3D		inserm.fr	GRCh37	7	84644501	84644501	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM325T																					ENST00000284136.6:c.1577T>C	p.Leu526Ser	p.L526S	ENST00000284136	NM_152754.2	526	tTg/tCg	0	validated		probablydamaging	
SEMA3D		inserm.fr	GRCh37	7	84671499	84671499	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM265T									Valid												ENST00000284136.6:c.964T>C	p.Phe322Leu	p.F322L	ENST00000284136	NM_152754.2	322	Ttt/Ctt	0	validated		probablydamaging	
NRG3		inserm.fr	GRCh37	10	84711239	84711239	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1745T																					ENST00000372141.2:c.1069T>G	p.Tyr357Asp	p.Y357D	ENST00000372141	NM_001165972.1	357	Tat/Gat	0	not done		probablydamaging	
DNAH6		inserm.fr	GRCh37	2	84756132	84756132	+	synonymous_variant	Silent	SNP	T	G	G			CHC703T																					ENST00000389394.3:c.504T>G	p.Pro168=	p.P168=	ENST00000389394	NM_001370.1	168	ccT/ccG	0	not done		synonymous	
DNAH6		inserm.fr	GRCh37	2	84777068	84777068	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1747T																					ENST00000389394.3:c.1372A>G	p.Asn458Asp	p.N458D	ENST00000389394	NM_001370.1	458	Aat/Gat	0	not done		probablydamaging	
USP10		inserm.fr	GRCh37	16	84778382	84778382	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1207T																					ENST00000219473.7:c.295A>G	p.Ile99Val	p.I99V	ENST00000219473	NM_005153.2	99	Ata/Gta	0	not done		benign	
DNAH6		inserm.fr	GRCh37	2	84930567	84930567	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1601T																					ENST00000389394.3:c.8110A>G	p.Ile2704Val	p.I2704V	ENST00000389394	NM_001370.1	2704	Ata/Gta	0	not done		benign	
MARCH2		inserm.fr	GRCh37	19	8495701	8495701	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1041T																					ENST00000602117.1:c.532C>G	p.Leu178Val	p.L178V	ENST00000602117		178	Ctc/Gtc	0	validated		probablydamaging	
RPF1		inserm.fr	GRCh37	1	84962051	84962051	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC1180T																					ENST00000370654.5:c.1006A>G	p.Lys336Glu	p.K336E	ENST00000370654	NM_025065.6	336	Aag/Gag	0	validated		possiblydamaging	
SSX2IP		inserm.fr	GRCh37	1	85130228	85130228	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM321T																					ENST00000342203.3:c.545A>C	p.Lys182Thr	p.K182T	ENST00000342203	NM_014021.3	182	aAa/aCa	0	validated		probablydamaging	
KCMF1		inserm.fr	GRCh37	2	85273361	85273361	+	synonymous_variant	Silent	SNP	A	G	G			CHC1595T																					ENST00000409785.4:c.561A>G	p.Ser187=	p.S187=	ENST00000409785	NM_020122.4	187	tcA/tcG	0	validated		synonymous	
HNRNPM		inserm.fr	GRCh37	19	8530256	8530256	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC258T																					ENST00000325495.4:c.487A>G	p.Thr163Ala	p.T163A	ENST00000325495	NM_005968.4	163	Acg/Gcg	0	validated		benign	
HNRNPM		inserm.fr	GRCh37	19	8531269	8531269	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM791T																					ENST00000325495.4:c.781A>G	p.Ile261Val	p.I261V	ENST00000325495	NM_005968.4	261	Ata/Gta	0	validated		benign	
TMEM126A		inserm.fr	GRCh37	11	85361311	85361311	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCB111T																					ENST00000304511.2:c.12T>G	p.His4Gln	p.H4Q	ENST00000304511	NM_032273.3	4	caT/caG	0	validated		probablydamaging	
SYTL2		inserm.fr	GRCh37	11	85411575	85411575	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1205T																					ENST00000354566.3:c.3350T>C	p.Val1117Ala	p.V1117A	ENST00000354566	NM_206927.2	1117	gTc/gCc	0	not done		probablydamaging	
LRRIQ1		inserm.fr	GRCh37	12	85441187	85441187	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2200T																					ENST00000393217.2:c.617A>G	p.Lys206Arg	p.K206R	ENST00000393217	NM_001079910.1	206	aAg/aGg	0	not done		possiblydamaging	
TBX18		inserm.fr	GRCh37	6	85446781	85446781	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM783T																					ENST00000369663.5:c.1446G>C	p.Gln482His	p.Q482H	ENST00000369663	NM_001080508.2	482	caG/caC	0	validated		probablydamaging	
LRRIQ1		inserm.fr	GRCh37	12	85450443	85450443	+	synonymous_variant	Silent	SNP	A	G	G			BCB325T																					ENST00000393217.2:c.1872A>G	p.Val624=	p.V624=	ENST00000393217	NM_001079910.1	624	gtA/gtG	0	validated		synonymous	
LRRIQ1		inserm.fr	GRCh37	12	85492708	85492708	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1603T																					ENST00000393217.2:c.3145A>G	p.Thr1049Ala	p.T1049A	ENST00000393217	NM_001079910.1	1049	Act/Gct	0	validated		benign	
MCOLN3		inserm.fr	GRCh37	1	85494789	85494789	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	G	G			CHC320T																					ENST00000370589.2:c.832A>C	p.Ile278Leu	p.I278L	ENST00000370589	NM_018298.10	278	Att/Ctt	0	validated		benign	
LRRIQ1		inserm.fr	GRCh37	12	85546861	85546861	+	synonymous_variant	Silent	SNP	A	G	G			CHC155T																					ENST00000393217.2:c.4479A>G	p.Gln1493=	p.Q1493=	ENST00000393217	NM_001079910.1	1493	caA/caG	0	validated		synonymous	
RERE		inserm.fr	GRCh37	1	8555152	8555152	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC437T																					ENST00000337907.3:c.1075G>C	p.Asp359His	p.D359H	ENST00000337907	NM_012102.3	359	Gat/Cat	0	not done		probablydamaging	
CDS1		inserm.fr	GRCh37	4	85555020	85555020	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1715T																					ENST00000295887.5:c.650C>G	p.Thr217Ser	p.T217S	ENST00000295887	NM_001263.3	217	aCt/aGt	0	not done		probablydamaging	
CDS1		inserm.fr	GRCh37	4	85562066	85562066	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000295887.5:c.955A>G	p.Thr319Ala	p.T319A	ENST00000295887	NM_001263.3	319	Aca/Gca	0	validated		benign	
CLDN23		inserm.fr	GRCh37	8	8560676	8560676	+	synonymous_variant	Silent	SNP	C	G	G			BCM339T																					ENST00000519106.1:c.768C>G	p.Ala256=	p.A256=	ENST00000519106	NM_194284.2	256	gcC/gcG	0	validated		synonymous	
CLDN23		inserm.fr	GRCh37	8	8560684	8560684	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB231T																					ENST00000519106.1:c.776A>G	p.Asn259Ser	p.N259S	ENST00000519106	NM_194284.2	259	aAc/aGc	0	validated		probablydamaging	
WDFY3		inserm.fr	GRCh37	4	85634369	85634369	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1731T																					ENST00000295888.4:c.7985T>C	p.Leu2662Pro	p.L2662P	ENST00000295888	NM_014991.4	2662	cTa/cCa	0	not done		probablydamaging	
GSE1		inserm.fr	GRCh37	16	85695010	85695010	+	synonymous_variant	Silent	SNP	A	G	G			CHC1566T																					ENST00000253458.7:c.1899A>G	p.Lys633=	p.K633=	ENST00000253458	NM_014615.3	633	aaA/aaG	0	not done		synonymous	
GINS2		inserm.fr	GRCh37	16	85711921	85711921	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1595T																					ENST00000253462.3:c.455A>C	p.Glu152Ala	p.E152A	ENST00000253462	NM_016095.2	152	gAg/gCg	0	validated		probablydamaging	
DDAH1		inserm.fr	GRCh37	1	85817192	85817192	+	synonymous_variant	Silent	SNP	A	G	G			CHC1756T																					ENST00000284031.8:c.474T>C	p.Phe158=	p.F158=	ENST00000284031	NM_012137.3	158	ttT/ttC	0	not done		synonymous	
MYO1F		inserm.fr	GRCh37	19	8587587	8587587	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC155T																					ENST00000338257.8:c.2981G>C	p.Arg994Pro	p.R994P	ENST00000338257	NM_012335.3	994	cGa/cCa	0	validated		benign	
EED		inserm.fr	GRCh37	11	85967549	85967549	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2048T																					ENST00000263360.6:c.547A>G	p.Ile183Val	p.I183V	ENST00000263360	NM_003797.3	183	Ata/Gta	0	not done		benign	
CDHR1		inserm.fr	GRCh37	10	85972962	85972962	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1209T																					ENST00000372117.3:c.1898A>G	p.Asn633Ser	p.N633S	ENST00000372117	NM_033100.3	633	aAt/aGt	0	not done		benign	
ATOH8		inserm.fr	GRCh37	2	85982003	85982003	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1207T																					ENST00000306279.3:c.691C>G	p.Arg231Gly	p.R231G	ENST00000306279	NM_032827.6	231	Cgg/Ggg	0	not done		probablydamaging	
FLRT2		inserm.fr	GRCh37	14	86089027	86089027	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC205T																					ENST00000330753.4:c.1169A>G	p.Asn390Ser	p.N390S	ENST00000330753	NM_013231.4	390	aAc/aGc	0	validated		benign	
CA1		inserm.fr	GRCh37	8	86240904	86240904	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC1182T																					ENST00000523953.1:c.671T>C	p.Leu224Pro	p.L224P	ENST00000523953		224	cTg/cCg	0	not done		damaging	
POLR1A		inserm.fr	GRCh37	2	86274320	86274320	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1545T																					ENST00000263857.6:c.2701G>C	p.Gly901Arg	p.G901R	ENST00000263857		901	Gga/Cga	0	not done		probablydamaging	
SYNCRIP		inserm.fr	GRCh37	6	86346836	86346836	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC197T									Valid												ENST00000369622.3:c.515A>C	p.Asp172Ala	p.D172A	ENST00000369622	NM_001159675.1	172	gAt/gCt	0	validated		probablydamaging	
PTCD3		inserm.fr	GRCh37	2	86362073	86362073	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC205T																					ENST00000254630.7:c.1741A>G	p.Ile581Val	p.I581V	ENST00000254630	NM_017952.5	581	Atc/Gtc	0	validated		benign	
GRM3		inserm.fr	GRCh37	7	86394785	86394785	+	synonymous_variant	Silent	SNP	A	G	G			CHC314T																					ENST00000361669.2:c.324A>G	p.Gln108=	p.Q108=	ENST00000361669	NM_000840.2	108	caA/caG	0	validated		synonymous	
GRM3		inserm.fr	GRCh37	7	86415724	86415724	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000361669.2:c.616C>G	p.Arg206Gly	p.R206G	ENST00000361669	NM_000840.2	206	Cgc/Ggc	0	not done		possiblydamaging	
FOXF1		inserm.fr	GRCh37	16	86544483	86544483	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC327T									Valid												ENST00000262426.4:c.308A>G	p.Asn103Ser	p.N103S	ENST00000262426	NM_001451.2	103	aAc/aGc	0	validated		probablydamaging	
ADAMTS10		inserm.fr	GRCh37	19	8660957	8660957	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	G	G			CHC1756T																					ENST00000270328.4:c.1337A>C	p.Asp446Ala	p.D446A	ENST00000270328		446	gAc/gCc	0	not done		probablydamaging	
RMI1		inserm.fr	GRCh37	9	86617086	86617086	+	synonymous_variant	Silent	SNP	A	G	G			CHC303T																					ENST00000325875.3:c.1185A>G	p.Arg395=	p.R395=	ENST00000325875	NM_024945.2	395	agA/agG	0	validated		synonymous	
SSUH2		inserm.fr	GRCh37	3	8669464	8669464	+	synonymous_variant	Silent	SNP	C	G	G			CHC1624T																					ENST00000544814.1:c.594G>C	p.Arg198=	p.R198=	ENST00000544814	NM_001256748.1	198	cgG/cgC	0	validated		synonymous	
ARHGAP24		inserm.fr	GRCh37	4	86844842	86844842	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC912T									Valid												ENST00000395184.1:c.310C>G	p.Leu104Val	p.L104V	ENST00000395184	NM_001025616.2	104	Ctc/Gtc	0	validated		benign	
CLCA1		inserm.fr	GRCh37	1	86951176	86951176	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2115T																					ENST00000234701.3:c.886A>G	p.Thr296Ala	p.T296A	ENST00000234701		296	Acc/Gcc	0	not done		benign	
CROT		inserm.fr	GRCh37	7	86988568	86988568	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1743T																					ENST00000419147.2:c.246A>G	p.Ile82Met	p.I82M	ENST00000419147	NM_001143935.1	82	atA/atG	0	not done		probablydamaging	
MFSD6L		inserm.fr	GRCh37	17	8701391	8701391	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1763T																					ENST00000329805.4:c.1048G>C	p.Glu350Gln	p.E350Q	ENST00000329805	NM_152599.3	350	Gag/Cag	0	not done		possiblydamaging	
POU1F1		inserm.fr	GRCh37	3	87310426	87310426	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM783T																					ENST00000344265.3:c.740T>C	p.Ile247Thr	p.I247T	ENST00000344265	NM_001122757.1	247	aTa/aCa	0	validated		probablydamaging	
PIK3R6		inserm.fr	GRCh37	17	8733037	8733037	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1744T																					ENST00000311434.9:c.875G>C	p.Gly292Ala	p.G292A	ENST00000311434	NM_001010855.2	292	gGt/gCt	0	not done		benign	
WWP1		inserm.fr	GRCh37	8	87393756	87393756	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1626T																					ENST00000517970.1:c.232T>G	p.Leu78Val	p.L78V	ENST00000517970	NM_007013.3	78	Ttg/Gtg	0	not done		possiblydamaging	
CNGB3		inserm.fr	GRCh37	8	87623845	87623845	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM739T																					ENST00000320005.5:c.1633T>C	p.Tyr545His	p.Y545H	ENST00000320005	NM_019098.4	545	Tat/Cat	0	validated		probablydamaging	
FAM9A		inserm.fr	GRCh37	X	8767020	8767020	+	synonymous_variant	Silent	SNP	C	G	G			CHC884T																					ENST00000543214.1:c.207G>C	p.Ala69=	p.A69=	ENST00000543214	NM_001171186.1	69	gcG/gcC	0	validated		synonymous	
CNGB3		inserm.fr	GRCh37	8	87679301	87679301	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC303T																					ENST00000320005.5:c.704T>C	p.Phe235Ser	p.F235S	ENST00000320005	NM_019098.4	235	tTt/tCt	0	validated		benign	
ZNF292		inserm.fr	GRCh37	6	87969809	87969809	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC898T																					ENST00000369577.3:c.6462T>G	p.Ser2154Arg	p.S2154R	ENST00000369577	NM_015021.1	2154	agT/agG	0	not done		probablydamaging	
CPXCR1		inserm.fr	GRCh37	X	88008543	88008543	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2358T																					ENST00000276127.4:c.128A>G	p.Gln43Arg	p.Q43R	ENST00000276127	NM_033048.5	43	cAg/cGg	0	validated		probablydamaging	
AFF1		inserm.fr	GRCh37	4	88048830	88048830	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC912T																					ENST00000395146.4:c.2939A>G	p.Lys980Arg	p.K980R	ENST00000395146	NM_001166693.1	980	aAg/aGg	0	validated		benign	
AFF1		inserm.fr	GRCh37	4	88053481	88053481	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM723T																					ENST00000395146.4:c.3232A>G	p.Ile1078Val	p.I1078V	ENST00000395146	NM_001166693.1	1078	Ata/Gta	0	validated		benign	
C6orf165		inserm.fr	GRCh37	6	88144716	88144716	+	stop_gained	Nonsense_Mutation	SNP	T	G	G			CHC1717T																					ENST00000369562.4:c.1439T>G	p.Leu480Ter	p.L480*	ENST00000369562	NM_001031743.2	480	tTa/tGa	0	not done		damaging	
HSD17B13		inserm.fr	GRCh37	4	88239554	88239554	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2098T																					ENST00000328546.4:c.245A>C	p.Lys82Thr	p.K82T	ENST00000328546	NM_178135.3	82	aAa/aCa	0	not done		benign	
GRM5		inserm.fr	GRCh37	11	88338128	88338128	+	synonymous_variant	Silent	SNP	A	G	G			CHC1743T																					ENST00000418177.2:c.1152T>C	p.Ser384=	p.S384=	ENST00000418177		384	tcT/tcC	0	not done		synonymous	
GALC		inserm.fr	GRCh37	14	88434781	88434781	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1747T																					ENST00000261304.2:c.806A>C	p.Lys269Thr	p.K269T	ENST00000261304	NM_000153.3	269	aAg/aCg	0	not done		benign	
CEP290		inserm.fr	GRCh37	12	88462340	88462340	+	synonymous_variant	Silent	SNP	A	G	G			CHC1186T																					ENST00000552810.1:c.6094T>C	p.Leu2032=	p.L2032=	ENST00000552810	NM_025114.3	2032	Tta/Cta	0	not done		synonymous	
NTRK3		inserm.fr	GRCh37	15	88476294	88476294	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2103T																					ENST00000360948.2:c.1838T>C	p.Leu613Pro	p.L613P	ENST00000360948	NM_001012338.2	613	cTc/cCc	0	not done		possiblydamaging	
ZNF469		inserm.fr	GRCh37	16	88494395	88494395	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1611T																					ENST00000437464.1:c.517C>G	p.Pro173Ala	p.P173A	ENST00000437464	NM_001127464.1	173	Ccc/Gcc	0	not done		benign	
NAA35		inserm.fr	GRCh37	9	88628632	88628632	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC051T																					ENST00000361671.5:c.1390-2A>G		p.X464_splice	ENST00000361671	NM_024635.3			0	validated		damaging	
BMPR1A		inserm.fr	GRCh37	10	88649940	88649940	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1720T																					ENST00000372037.3:c.189C>G	p.Cys63Trp	p.C63W	ENST00000372037	NM_004329.2	63	tgC/tgG	0	not done		probablydamaging	
MMRN2		inserm.fr	GRCh37	10	88696530	88696530	+	synonymous_variant	Silent	SNP	T	G	G			CHC465T																					ENST00000372027.5:c.2820A>C	p.Ala940=	p.A940=	ENST00000372027	NM_024756.2	940	gcA/gcC	0	validated		synonymous	
KIDINS220		inserm.fr	GRCh37	2	8877067	8877067	+	synonymous_variant	Silent	SNP	A	G	G			CHC1743T																					ENST00000256707.3:c.3648T>C	p.Cys1216=	p.C1216=	ENST00000256707	NM_020738.2	1216	tgT/tgC	0	not done		synonymous	
GRM5		inserm.fr	GRCh37	11	88780994	88780994	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1545T																					ENST00000418177.2:c.47T>C	p.Val16Ala	p.V16A	ENST00000418177		16	gTc/gCc	0	not done		benign	
CTU2		inserm.fr	GRCh37	16	88781096	88781096	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1148T																					ENST00000453996.2:c.1303T>G	p.Ser435Ala	p.S435A	ENST00000453996	NM_001012759.1	435	Tct/Gct	0	not done		benign	
GLUD1		inserm.fr	GRCh37	10	88818923	88818923	+	synonymous_variant	Silent	SNP	A	G	G			CHC889T																					ENST00000277865.4:c.1386T>C	p.Ser462=	p.S462=	ENST00000277865	NM_005271.3	462	tcT/tcC	0	validated		synonymous	
CNR1		inserm.fr	GRCh37	6	88854357	88854357	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC155T									Valid												ENST00000537554.1:c.637G>C	p.Asp213His	p.D213H	ENST00000537554	NM_001160258.1	213	Gac/Cac	0	validated		probablydamaging	
PABPN1L		inserm.fr	GRCh37	16	88932976	88932976	+	synonymous_variant	Silent	SNP	C	G	G			CHC1183T																					ENST00000419291.2:c.39G>C	p.Pro13=	p.P13=	ENST00000419291	NM_001080487.2	13	ccG/ccC	0	validated		synonymous	
ZCCHC6		inserm.fr	GRCh37	9	88937955	88937955	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1744T																					ENST00000375963.3:c.2710A>C	p.Lys904Gln	p.K904Q	ENST00000375963	NM_001185059.1	904	Aag/Cag	0	not done		possiblydamaging	
ZNF804B		inserm.fr	GRCh37	7	88965224	88965224	+	synonymous_variant	Silent	SNP	A	G	G			CHC912T																					ENST00000333190.4:c.2928A>G	p.Ala976=	p.A976=	ENST00000333190	NM_181646.2	976	gcA/gcG	0	validated		synonymous	
ZC3H14		inserm.fr	GRCh37	14	89039102	89039102	+	synonymous_variant	Silent	SNP	A	G	G			BCM545T																					ENST00000251038.5:c.612A>G	p.Thr204=	p.T204=	ENST00000251038	NM_024824.4	204	acA/acG	0	validated		synonymous	
ABCG2		inserm.fr	GRCh37	4	89042836	89042836	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1534T																					ENST00000237612.3:c.640A>C	p.Thr214Pro	p.T214P	ENST00000237612	NM_004827.2	214	Act/Cct	0	validated		probablydamaging	
TGIF2LX		inserm.fr	GRCh37	X	89177591	89177591	+	synonymous_variant	Silent	SNP	A	G	G			CHC1712T																					ENST00000561129.2:c.507A>G	p.Arg169=	p.R169=	ENST00000561129		169	agA/agG	0	not done		synonymous	
MMP16		inserm.fr	GRCh37	8	89209441	89209441	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB325T									Valid												ENST00000286614.6:c.227T>C	p.Met76Thr	p.M76T	ENST00000286614	NM_005941.4	76	aTg/aCg	0	validated		probablydamaging	
ZNF558		inserm.fr	GRCh37	19	8922671	8922671	+	synonymous_variant	Silent	SNP	A	G	G			CHC1629T																					ENST00000601372.1:c.495T>C	p.Ser165=	p.S165=	ENST00000601372		165	tcT/tcC	0	not done		synonymous	
HERC5		inserm.fr	GRCh37	4	89421132	89421132	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC451T																					ENST00000264350.3:c.2500A>G	p.Ile834Val	p.I834V	ENST00000264350	NM_016323.3	834	Atc/Gtc	0	validated		benign	
RNGTT		inserm.fr	GRCh37	6	89563456	89563456	+	synonymous_variant	Silent	SNP	A	G	G			CHC2048T																					ENST00000369485.4:c.924T>C	p.Asn308=	p.N308=	ENST00000369485	NM_003800.3	308	aaT/aaC	0	not done		synonymous	
HERC3		inserm.fr	GRCh37	4	89575215	89575215	+	synonymous_variant	Silent	SNP	A	G	G			CHC451T																					ENST00000402738.1:c.708A>G	p.Val236=	p.V236=	ENST00000402738	NM_014606.2	236	gtA/gtG	0	not done		synonymous	
RNGTT		inserm.fr	GRCh37	6	89638705	89638705	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	G	G			CHC1743T																					ENST00000369485.4:c.366A>C	p.Ile122=	p.I122=	ENST00000369485	NM_003800.3	122	atA/atC	0	not done		damaging	
FAM13A		inserm.fr	GRCh37	4	89652538	89652538	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2208T																					ENST00000264344.5:c.2885A>C	p.Lys962Thr	p.K962T	ENST00000264344	NM_014883.3	962	aAg/aCg	0	not done		probablydamaging	
PTEN		inserm.fr	GRCh37	10	89692952	89692952	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC2358T																					ENST00000371953.3:c.436T>G	p.Leu146Val	p.L146V	ENST00000371953	NM_000314.4	146	Tta/Gta	0	validated		benign	
POLG		inserm.fr	GRCh37	15	89871718	89871718	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1180T																					ENST00000268124.5:c.1219T>C	p.Phe407Leu	p.F407L	ENST00000268124	NM_001126131.1	407	Ttc/Ctc	0	validated		possiblydamaging	
GABRR1		inserm.fr	GRCh37	6	89899897	89899897	+	synonymous_variant	Silent	SNP	A	G	G			CHC1185T																					ENST00000454853.2:c.642T>C	p.Leu214=	p.L214=	ENST00000454853	NM_001256704.1	214	ctT/ctC	0	not done		synonymous	
NAALAD2		inserm.fr	GRCh37	11	89902156	89902156	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1763T																					ENST00000534061.1:c.1338A>G	p.Ile446Met	p.I446M	ENST00000534061	NM_005467.3	446	atA/atG	0	not done		benign	
NAALAD2		inserm.fr	GRCh37	11	89916084	89916084	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	G	G			CHC2099T																					ENST00000534061.1:c.1941T>G	p.Asn647Lys	p.N647K	ENST00000534061	NM_005467.3	647	aaT/aaG	0	not done		damaging	
C7orf63		inserm.fr	GRCh37	7	89929207	89929207	+	synonymous_variant	Silent	SNP	A	G	G			CHC609T																					ENST00000389297.4:c.1884A>G	p.Leu628=	p.L628=	ENST00000389297	NM_001039706.2	628	ctA/ctG	0	validated		synonymous	
GPR98		inserm.fr	GRCh37	5	89938740	89938740	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC909T																					ENST00000405460.2:c.2435A>G	p.Tyr812Cys	p.Y812C	ENST00000405460	NM_032119.3	812	tAc/tGc	0	not done		probablydamaging	
ATP2B1		inserm.fr	GRCh37	12	89998025	89998025	+	synonymous_variant	Silent	SNP	A	G	G			CHC2029T																					ENST00000428670.3:c.2541T>C	p.Asn847=	p.N847=	ENST00000428670		847	aaT/aaC	0	not done		synonymous	
TUBB3		inserm.fr	GRCh37	16	90001676	90001676	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1763T																					ENST00000315491.7:c.817C>G	p.Leu273Val	p.L273V	ENST00000315491	NM_006086.3	273	Ctc/Gtc	0	not done		possiblydamaging	
CLDN12		inserm.fr	GRCh37	7	90042373	90042373	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM257T																					ENST00000535571.1:c.383A>G	p.Asn128Ser	p.N128S	ENST00000535571	NM_001185072.2	128	aAt/aGt	0	validated		probablydamaging	
LRRC8B		inserm.fr	GRCh37	1	90049756	90049756	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM567T																					ENST00000330947.2:c.1547A>G	p.Tyr516Cys	p.Y516C	ENST00000330947	NM_001134476.1	516	tAt/tGt	0	validated		benign	
GPR98		inserm.fr	GRCh37	5	90079720	90079720	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1715T																					ENST00000405460.2:c.13499A>G	p.His4500Arg	p.H4500R	ENST00000405460	NM_032119.3	4500	cAc/cGc	0	validated		benign	
GAS8		inserm.fr	GRCh37	16	90104209	90104209	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1566T																					ENST00000268699.4:c.964A>G	p.Lys322Glu	p.K322E	ENST00000268699	NM_001481.2	322	Aaa/Gaa	0	not done		possiblydamaging	
DAPK1		inserm.fr	GRCh37	9	90260840	90260840	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC155T																					ENST00000408954.3:c.1042A>G	p.Ile348Val	p.I348V	ENST00000408954	NM_004938.2	348	Atc/Gtc	0	validated		benign	
DAPK1		inserm.fr	GRCh37	9	90321432	90321432	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC121T									Valid												ENST00000408954.3:c.3446A>G	p.Gln1149Arg	p.Q1149R	ENST00000408954	NM_004938.2	1149	cAg/cGg	0	validated		probablydamaging	
ANPEP		inserm.fr	GRCh37	15	90349277	90349277	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC302T									Valid												ENST00000300060.6:c.538A>C	p.Ser180Arg	p.S180R	ENST00000300060	NM_001150.2	180	Agc/Cgc	0	validated		possiblydamaging	
LIPJ		inserm.fr	GRCh37	10	90365456	90365456	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1053T																					ENST00000371939.3:c.862A>G	p.Asn288Asp	p.N288D	ENST00000371939	NM_001010939.2	288	Aat/Gat	0	validated		benign	
TDP1		inserm.fr	GRCh37	14	90429626	90429626	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1754T																					ENST00000335725.4:c.168C>G	p.His56Gln	p.H56Q	ENST00000335725	NM_018319.3	56	caC/caG	0	not done		possiblydamaging	
TDP1		inserm.fr	GRCh37	14	90429789	90429789	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1192T																					ENST00000335725.4:c.331A>G	p.Lys111Glu	p.K111E	ENST00000335725	NM_018319.3	111	Aaa/Gaa	0	not done		benign	
FAM75C1		inserm.fr	GRCh37	9	90534231	90534231	+	non_coding_transcript_exon_variant	RNA	SNP	C	G	G			CHC1044T																					ENST00000420021.2:n.548C>G		*183*	ENST00000420021				0	not done		benign	
IDH2		inserm.fr	GRCh37	15	90630677	90630677	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM339T																					ENST00000330062.3:c.809T>C	p.Phe270Ser	p.F270S	ENST00000330062	NM_002168.2	270	tTt/tCt	0	validated		possiblydamaging	
MUC16		inserm.fr	GRCh37	19	9064489	9064489	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM321T																					ENST00000397910.4:c.22957G>C	p.Val7653Leu	p.V7653L	ENST00000397910	NM_024690.2	7653	Gta/Cta	0	validated		benign	
MUC16		inserm.fr	GRCh37	19	9067678	9067678	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC793T									Valid												ENST00000397910.4:c.19768A>C	p.Thr6590Pro	p.T6590P	ENST00000397910	NM_024690.2	6590	Aca/Cca	0	validated		benign	
PABPC5		inserm.fr	GRCh37	X	90691426	90691426	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1594T																					ENST00000312600.3:c.850T>G	p.Leu284Val	p.L284V	ENST00000312600	NM_080832.2	284	Ttg/Gtg	0	not done		probablydamaging	
SCUBE2		inserm.fr	GRCh37	11	9069540	9069540	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000520467.1:c.1745T>C	p.Met582Thr	p.M582T	ENST00000520467	NM_020974.2	582	aTg/aCg	0	not done		benign	
MUC16		inserm.fr	GRCh37	19	9073817	9073817	+	synonymous_variant	Silent	SNP	C	G	G			CHC1624T																					ENST00000397910.4:c.13629G>C	p.Gly4543=	p.G4543=	ENST00000397910	NM_024690.2	4543	ggG/ggC	0	validated		synonymous	
GDPGP1		inserm.fr	GRCh37	15	90784696	90784696	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1741T																					ENST00000558017.1:c.556C>G	p.Leu186Val	p.L186V	ENST00000558017	NM_001013657.2	186	Ctg/Gtg	0	not done		possiblydamaging	
TTC7B		inserm.fr	GRCh37	14	91121421	91121421	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM375T																					ENST00000328459.6:c.1375G>C	p.Val459Leu	p.V459L	ENST00000328459	NM_001010854.1	459	Gtt/Ctt	0	validated		benign	
IFIT1		inserm.fr	GRCh37	10	91163283	91163283	+	synonymous_variant	Silent	SNP	A	G	G			CHC303T																					ENST00000371804.3:c.1251A>G	p.Lys417=	p.K417=	ENST00000371804	NM_001270927.1	417	aaA/aaG	0	validated		synonymous	
MAP3K7		inserm.fr	GRCh37	6	91226378	91226378	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM501T																					ENST00000369329.3:c.1663G>C	p.Asp555His	p.D555H	ENST00000369329	NM_145331.2	555	Gac/Cac	0	validated		probablydamaging	
BLM		inserm.fr	GRCh37	15	91304159	91304159	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC302T									Valid												ENST00000355112.3:c.1556A>G	p.Tyr519Cys	p.Y519C	ENST00000355112	NM_000057.2	519	tAt/tGt	0	validated		probablydamaging	
FURIN		inserm.fr	GRCh37	15	91419501	91419501	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2141T																					ENST00000268171.3:c.194A>G	p.Tyr65Cys	p.Y65C	ENST00000268171	NM_002569.2	65	tAc/tGc	0	not done		probablydamaging	
KERA		inserm.fr	GRCh37	12	91449355	91449355	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCB231T																					ENST00000266719.3:c.704T>C	p.Val235Ala	p.V235A	ENST00000266719	NM_007035.3	235	gTg/gCg	0	validated		benign	
MTERF		inserm.fr	GRCh37	7	91503452	91503452	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC433T									Valid												ENST00000351870.3:c.656A>C	p.Gln219Pro	p.Q219P	ENST00000351870	NM_006980.3	219	cAg/cCg	0	validated		possiblydamaging	
AKAP9		inserm.fr	GRCh37	7	91631185	91631185	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1040T																					ENST00000356239.3:c.1954A>G	p.Ile652Val	p.I652V	ENST00000356239	NM_147185.2	652	Att/Gtt	0	not done		benign	
AKAP9		inserm.fr	GRCh37	7	91631258	91631258	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2113T																					ENST00000356239.3:c.2027A>G	p.Gln676Arg	p.Q676R	ENST00000356239	NM_147185.2	676	cAa/cGa	0	not done		benign	
GPR68		inserm.fr	GRCh37	14	91700913	91700913	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC801T																					ENST00000531499.2:c.482A>C	p.Glu161Ala	p.E161A	ENST00000531499		161	gAg/gCg	0	not done		possiblydamaging	
GPR68		inserm.fr	GRCh37	14	91701220	91701220	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2103T																					ENST00000531499.2:c.175T>C	p.Tyr59His	p.Y59H	ENST00000531499		59	Tac/Cac	0	not done		probablydamaging	
AKAP9		inserm.fr	GRCh37	7	91730296	91730296	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC912T									Valid												ENST00000356239.3:c.11023A>G	p.Lys3675Glu	p.K3675E	ENST00000356239	NM_147185.2	3675	Aaa/Gaa	0	validated		probablydamaging	
HFM1		inserm.fr	GRCh37	1	91742203	91742203	+	synonymous_variant	Silent	SNP	A	G	G			CHC1736T																					ENST00000370425.3:c.3570T>C	p.Pro1190=	p.P1190=	ENST00000370425	NM_001017975.3	1190	ccT/ccC	0	not done		synonymous	
HFM1		inserm.fr	GRCh37	1	91866624	91866624	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1186T																					ENST00000370425.3:c.16G>C	p.Asp6His	p.D6H	ENST00000370425	NM_001017975.3	6	Gat/Cat	0	not done		probablydamaging	
CKS2		inserm.fr	GRCh37	9	91930129	91930129	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1600T																					ENST00000314355.6:c.104C>G	p.Thr35Ser	p.T35S	ENST00000314355	NM_001827.1	35	aCt/aGt	0	validated		benign	
SMEK1		inserm.fr	GRCh37	14	91937183	91937183	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			CHC1055T									Valid												ENST00000554684.1:c.1619T>C	p.Leu540Ser	p.L540S	ENST00000554684	NM_001284280.1	540	tTa/tCa	0	validated		probablydamaging	
SMEK1		inserm.fr	GRCh37	14	91942238	91942238	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC205T									Valid												ENST00000554684.1:c.1183A>C	p.Met395Leu	p.M395L	ENST00000554684	NM_001284280.1	395	Atg/Ctg	0	validated		benign	
SECISBP2		inserm.fr	GRCh37	9	91972406	91972406	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1041T									Valid												ENST00000375807.3:c.2194A>G	p.Lys732Glu	p.K732E	ENST00000375807	NM_024077.3	732	Aaa/Gaa	0	validated		probablydamaging	
SEMA4D		inserm.fr	GRCh37	9	91994397	91994397	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC896T																					ENST00000450295.1:c.1811T>C	p.Met604Thr	p.M604T	ENST00000450295		604	aTg/aCg	0	not done		benign	
CATSPERB		inserm.fr	GRCh37	14	92053569	92053569	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1747T																					ENST00000256343.3:c.3109T>C	p.Cys1037Arg	p.C1037R	ENST00000256343	NM_024764.2	1037	Tgt/Cgt	0	not done		probablydamaging	
OTUD6B		inserm.fr	GRCh37	8	92083426	92083426	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM423T																					ENST00000285420.4:c.233T>G	p.Leu78Arg	p.L78R	ENST00000285420	NM_016023.3	78	cTc/cGc	0	validated		probablydamaging	
A2M		inserm.fr	GRCh37	12	9220780	9220780	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	G	G			CHC794T																					ENST00000318602.7:c.4407A>C	p.Lys1469Asn	p.K1469N	ENST00000318602	NM_000014.4	1469	aaA/aaC	0	validated		damaging	
FAT3		inserm.fr	GRCh37	11	92531434	92531434	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1616T																					ENST00000298047.6:c.5255A>G	p.Asn1752Ser	p.N1752S	ENST00000298047		1752	aAt/aGt	0	not done		possiblydamaging	
BTBD8		inserm.fr	GRCh37	1	92554356	92554356	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1531T																					ENST00000342818.3:c.251A>G	p.Tyr84Cys	p.Y84C	ENST00000342818	NM_183242.3	84	tAt/tGt	0	not done		benign	
ANKRD12		inserm.fr	GRCh37	18	9256333	9256333	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2111T																					ENST00000262126.4:c.3068A>G	p.Asp1023Gly	p.D1023G	ENST00000262126	NM_015208.4	1023	gAt/gGt	0	not done		probablydamaging	
FAT3		inserm.fr	GRCh37	11	92577265	92577265	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC805T																					ENST00000298047.6:c.10732C>G	p.Gln3578Glu	p.Q3578E	ENST00000298047		3578	Caa/Gaa	0	not done		possiblydamaging	
ANKRD12		inserm.fr	GRCh37	18	9258389	9258389	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM501T																					ENST00000262126.4:c.5124T>G	p.His1708Gln	p.H1708Q	ENST00000262126	NM_015208.4	1708	caT/caG	0	validated		benign	
CPSF2		inserm.fr	GRCh37	14	92624063	92624063	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1566T																					ENST00000298875.4:c.1656C>G	p.Ile552Met	p.I552M	ENST00000298875	NM_017437.2	552	atC/atG	0	not done		possiblydamaging	
SLCO3A1		inserm.fr	GRCh37	15	92690241	92690241	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1741T																					ENST00000318445.6:c.1540A>G	p.Thr514Ala	p.T514A	ENST00000318445	NM_013272.3	514	Acc/Gcc	0	not done		benign	
C1orf146		inserm.fr	GRCh37	1	92710368	92710368	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1742T																					ENST00000370375.3:c.362T>G	p.Val121Gly	p.V121G	ENST00000370375	NM_001012425.1	121	gTa/gGa	0	not done		probablydamaging	
RPAP2		inserm.fr	GRCh37	1	92789522	92789522	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1600T																					ENST00000610020.1:c.1045A>G	p.Arg349Gly	p.R349G	ENST00000610020	NM_024813.2	349	Agg/Ggg	0	not done		benign	
CCDC132		inserm.fr	GRCh37	7	92886766	92886766	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2216T																					ENST00000305866.5:c.412A>G	p.Asn138Asp	p.N138D	ENST00000305866	NM_017667.3	138	Aat/Gat	0	not done		benign	
CCDC132		inserm.fr	GRCh37	7	92963481	92963481	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC258T																					ENST00000305866.5:c.2030A>G	p.Asn677Ser	p.N677S	ENST00000305866	NM_017667.3	677	aAc/aGc	0	validated		probablydamaging	
CALCR		inserm.fr	GRCh37	7	93108780	93108780	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM265T																					ENST00000359558.2:c.145T>C	p.Tyr49His	p.Y49H	ENST00000359558	NM_001164737.1	49	Tat/Cat	0	validated		benign	
PZP		inserm.fr	GRCh37	12	9313031	9313031	+	synonymous_variant	Silent	SNP	A	G	G			CHC1745T																					ENST00000261336.2:c.2928T>C	p.Tyr976=	p.Y976=	ENST00000261336	NM_002864.2	976	taT/taC	0	not done		synonymous	
PLEKHG7		inserm.fr	GRCh37	12	93150113	93150113	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1044T																					ENST00000344636.3:c.646A>G	p.Ile216Val	p.I216V	ENST00000344636	NM_001004330.2	216	Atc/Gtc	0	not done		benign	
CCDC67		inserm.fr	GRCh37	11	93170869	93170869	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1725T																					ENST00000298050.3:c.1799A>G	p.Gln600Arg	p.Q600R	ENST00000298050	NM_181645.3	600	cAa/cGa	0	not done		possiblydamaging	
H6PD		inserm.fr	GRCh37	1	9323694	9323694	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2103T																					ENST00000377403.2:c.1142A>G	p.Gln381Arg	p.Q381R	ENST00000377403	NM_004285.3	381	cAg/cGg	0	not done		possiblydamaging	
HECTD2		inserm.fr	GRCh37	10	93256081	93256081	+	synonymous_variant	Silent	SNP	A	G	G			CHC1743T																					ENST00000298068.5:c.1632A>G	p.Pro544=	p.P544=	ENST00000298068	NM_182765.3	544	ccA/ccG	0	not done		synonymous	
GOLGA5		inserm.fr	GRCh37	14	93282623	93282623	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC326T									Valid												ENST00000163416.2:c.1348A>G	p.Lys450Glu	p.K450E	ENST00000163416	NM_005113.3	450	Aaa/Gaa	0	validated		probablydamaging	
USP17L5		inserm.fr	GRCh37	4	9341677	9341677	+	synonymous_variant	Silent	SNP	A	G	G			CHC320T																					ENST00000507227.1:c.549A>G	p.Val183=	p.V183=	ENST00000507227	NM_001242329.1	183	gtA/gtG	0	validated		synonymous	
KIAA1731		inserm.fr	GRCh37	11	93429556	93429556	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC909T																					ENST00000325212.6:c.1742A>G	p.Tyr581Cys	p.Y581C	ENST00000325212		581	tAt/tGt	0	not done		probablydamaging	
KIAA1731		inserm.fr	GRCh37	11	93432365	93432365	+	synonymous_variant	Silent	SNP	C	G	G			CHC1732T																					ENST00000325212.6:c.4287C>G	p.Ser1429=	p.S1429=	ENST00000325212		1429	tcC/tcG	0	not done		synonymous	
TNKS2		inserm.fr	GRCh37	10	93600419	93600419	+	synonymous_variant	Silent	SNP	A	G	G			CHC451T																					ENST00000371627.4:c.1629A>G	p.Glu543=	p.E543=	ENST00000371627	NM_025235.3	543	gaA/gaG	0	not done		synonymous	
SYK		inserm.fr	GRCh37	9	93606265	93606265	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1568T																					ENST00000375746.1:c.85C>G	p.Leu29Val	p.L29V	ENST00000375746	NM_001174167.1	29	Ctg/Gtg	0	not done		probablydamaging	
CCDC18		inserm.fr	GRCh37	1	93672750	93672750	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC303T									Valid												ENST00000370276.1:c.1165A>G	p.Glu389Gly	p.E389G	ENST00000370276		389	gAa/gGa	0	validated		possiblydamaging	
EPHA7		inserm.fr	GRCh37	6	93967917	93967917	+	synonymous_variant	Silent	SNP	A	G	G			CHC896T																					ENST00000369303.4:c.2010T>C	p.Gly670=	p.G670=	ENST00000369303	NM_004440.3	670	ggT/ggC	0	not done		synonymous	
COL1A2		inserm.fr	GRCh37	7	94055352	94055352	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC798T																					ENST00000297268.6:c.2986A>G	p.Arg996Gly	p.R996G	ENST00000297268	NM_000089.3	996	Aga/Gga	0	validated		probablydamaging	
AUH		inserm.fr	GRCh37	9	94124060	94124060	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1602T																					ENST00000375731.4:c.112G>C	p.Gly38Arg	p.G38R	ENST00000375731	NM_001698.2	38	Ggc/Cgc	0	validated		possiblydamaging	
PIWIL4		inserm.fr	GRCh37	11	94351127	94351127	+	synonymous_variant	Silent	SNP	C	G	G			CHC798T																					ENST00000299001.6:c.2022C>G	p.Leu674=	p.L674=	ENST00000299001	NM_152431.2	674	ctC/ctG	0	validated		synonymous	
MCTP1		inserm.fr	GRCh37	5	94353071	94353071	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC155T									Valid												ENST00000515393.1:c.838G>C	p.Gly280Arg	p.G280R	ENST00000515393	NM_024717.4	280	Ggg/Cgg	0	validated		probablydamaging	
ASB2		inserm.fr	GRCh37	14	94417433	94417433	+	synonymous_variant	Silent	SNP	C	G	G			CHC1192T																					ENST00000555019.1:c.792G>C	p.Val264=	p.V264=	ENST00000555019	NM_001202429.1	264	gtG/gtC	0	not done		synonymous	
HHEX		inserm.fr	GRCh37	10	94452167	94452167	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T																					ENST00000282728.5:c.404A>G	p.His135Arg	p.H135R	ENST00000282728	NM_002729.4	135	cAt/cGt	0	validated		possiblydamaging	
PLCB4		inserm.fr	GRCh37	20	9453970	9453970	+	synonymous_variant	Silent	SNP	C	G	G			CHC1611T																					ENST00000378501.2:c.3417C>G	p.Val1139=	p.V1139=	ENST00000378501	NM_000933.3	1139	gtC/gtG	0	not done		synonymous	
PLXNC1		inserm.fr	GRCh37	12	94543176	94543176	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1704T																					ENST00000258526.4:c.429C>G	p.Ser143Arg	p.S143R	ENST00000258526	NM_005761.2	143	agC/agG	0	not done		benign	
IPO7		inserm.fr	GRCh37	11	9459321	9459321	+	synonymous_variant	Silent	SNP	A	G	G			CHC304T																					ENST00000379719.3:c.2289A>G	p.Glu763=	p.E763=	ENST00000379719	NM_006391.2	763	gaA/gaG	0	validated		synonymous	
KDM4D		inserm.fr	GRCh37	11	94731546	94731546	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC433T									Valid												ENST00000335080.5:c.1010A>G	p.Lys337Arg	p.K337R	ENST00000335080	NM_018039.2	337	aAa/aGa	0	validated		possiblydamaging	
KDM4E		inserm.fr	GRCh37	11	94759291	94759291	+	synonymous_variant	Silent	SNP	A	G	G			CHC896T																					ENST00000450979.2:c.570A>G	p.Thr190=	p.T190=	ENST00000450979	NM_001161630.1	190	acA/acG	0	not done		synonymous	
FAM81B		inserm.fr	GRCh37	5	94785960	94785960	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM483T									Valid												ENST00000283357.5:c.1333A>G	p.Lys445Glu	p.K445E	ENST00000283357	NM_152548.2	445	Aag/Gag	0	validated		probablydamaging	
TMEM67		inserm.fr	GRCh37	8	94809360	94809360	+	splice_acceptor_variant	Splice_Site	SNP	A	G	G			CHC1725T																					ENST00000453321.3:c.1861-2A>G		p.X621_splice	ENST00000453321	NM_153704.5			0	not done		possiblydamaging	
SKIC3		inserm.fr	GRCh37	5	94830477	94830477	+	synonymous_variant	Silent	SNP	C	G	G			CHC1714T																					ENST00000358746.2:c.3711G>C	p.Ala1237=	p.A1237=	ENST00000358746	NM_014639.3	1237	gcG/gcC	0	not done		synonymous	
SETD5		inserm.fr	GRCh37	3	9485031	9485031	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC805T																					ENST00000402198.1:c.1117A>G	p.Ile373Val	p.I373V	ENST00000402198	NM_001080517.1	373	Atc/Gtc	0	not done		probablydamaging	
SKIC3		inserm.fr	GRCh37	5	94852850	94852850	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC320T									Valid												ENST00000358746.2:c.2291G>C	p.Arg764Thr	p.R764T	ENST00000358746	NM_014639.3	764	aGg/aCg	0	validated		possiblydamaging	
ENDOD1		inserm.fr	GRCh37	11	94861553	94861553	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1211T																					ENST00000278505.4:c.313A>G	p.Asn105Asp	p.N105D	ENST00000278505	NM_015036.2	105	Aac/Gac	0	not done		benign	
ZNF177		inserm.fr	GRCh37	19	9491749	9491749	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1192T																					ENST00000434737.2:c.742A>G	p.Lys248Glu	p.K248E	ENST00000434737		248	Aaa/Gaa	0	not done			
SERPINA9		inserm.fr	GRCh37	14	94929592	94929592	+	synonymous_variant	Silent	SNP	A	G	G			CHC2098T																					ENST00000337425.5:c.1146T>C	p.Thr382=	p.T382=	ENST00000337425	NM_175739.3	382	acT/acC	0	not done		synonymous	
ASAP2		inserm.fr	GRCh37	2	9498914	9498914	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC923T																					ENST00000281419.3:c.1357A>G	p.Ile453Val	p.I453V	ENST00000281419	NM_003887.2	453	Atc/Gtc	0	not done		possiblydamaging	
SERPINA4		inserm.fr	GRCh37	14	95030259	95030259	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1568T																					ENST00000557004.1:c.440A>G	p.His147Arg	p.H147R	ENST00000557004		147	cAc/cGc	0	not done		benign	
SETD5		inserm.fr	GRCh37	3	9506280	9506280	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC451T																					ENST00000402198.1:c.2648A>G	p.Asn883Ser	p.N883S	ENST00000402198	NM_001080517.1	883	aAt/aGt	0	validated		probablydamaging	
DCT		inserm.fr	GRCh37	13	95114433	95114433	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC205T									Valid												ENST00000446125.1:c.874T>C	p.Tyr292His	p.Y292H	ENST00000446125	NM_001129889.1	292	Tac/Cac	0	validated		possiblydamaging	
CDH17		inserm.fr	GRCh37	8	95161056	95161056	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC121T																					ENST00000027335.3:c.1843G>C	p.Val615Leu	p.V615L	ENST00000027335	NM_004063.3	615	Gtg/Ctg	0	validated		benign	
SMARCAD1		inserm.fr	GRCh37	4	95171922	95171922	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1601T																					ENST00000359052.4:c.827A>G	p.Lys276Arg	p.K276R	ENST00000359052	NM_001128430.1	276	aAg/aGg	0	not done		benign	
SMARCAD1		inserm.fr	GRCh37	4	95191952	95191952	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1053T									Valid												ENST00000359052.4:c.1555A>G	p.Ile519Val	p.I519V	ENST00000359052	NM_001128430.1	519	Att/Gtt	0	validated		probablydamaging	
GSC		inserm.fr	GRCh37	14	95235382	95235382	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC884T																					ENST00000238558.3:c.528G>C	p.Glu176Asp	p.E176D	ENST00000238558	NM_173849.2	176	gaG/gaC	0	validated		probablydamaging	
BICD2		inserm.fr	GRCh37	9	95526969	95526969	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1044T																					ENST00000356884.6:c.58G>C	p.Glu20Gln	p.E20Q	ENST00000356884	NM_001003800.1	20	Gag/Cag	0	not done		benign	
TEKT4		inserm.fr	GRCh37	2	95539307	95539307	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1556T																					ENST00000295201.4:c.541A>G	p.Thr181Ala	p.T181A	ENST00000295201	NM_144705.2	181	Acc/Gcc	0	not done		possiblydamaging	
KIAA1429		inserm.fr	GRCh37	8	95541478	95541478	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC898T																					ENST00000297591.5:c.700T>C	p.Tyr234His	p.Y234H	ENST00000297591	NM_015496.4	234	Tat/Cat	0	not done		probablydamaging	
VEZT		inserm.fr	GRCh37	12	95688141	95688141	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC155T																					ENST00000436874.1:c.1616A>G	p.Glu539Gly	p.E539G	ENST00000436874	NM_017599.3	539	gAg/gGg	0	validated		probablydamaging	
FGD3		inserm.fr	GRCh37	9	95738919	95738919	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM531T																					ENST00000375482.3:c.381C>G	p.Asp127Glu	p.D127E	ENST00000375482	NM_001083536.1	127	gaC/gaG	0	validated		possiblydamaging	
PCSK1		inserm.fr	GRCh37	5	95759028	95759028	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC917T																					ENST00000311106.3:c.532T>C	p.Tyr178His	p.Y178H	ENST00000311106	NM_000439.4	178	Tat/Cat	0	validated		possiblydamaging	
ZNF560		inserm.fr	GRCh37	19	9577355	9577355	+	synonymous_variant	Silent	SNP	A	G	G			CHC1137T																					ENST00000301480.4:c.2268T>C	p.Ile756=	p.I756=	ENST00000301480	NM_152476.2	756	atT/atC	0	not done		synonymous	
METAP2		inserm.fr	GRCh37	12	95879721	95879721	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1028T																					ENST00000323666.5:c.392A>G	p.Lys131Arg	p.K131R	ENST00000323666	NM_006838.3	131	aAa/aGa	0	not done		benign	
PLCE1		inserm.fr	GRCh37	10	96005900	96005900	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1602T																					ENST00000371380.3:c.2618A>G	p.Asp873Gly	p.D873G	ENST00000371380		873	gAc/gGc	0	not done		possiblydamaging	
BMPR1B		inserm.fr	GRCh37	4	96051030	96051030	+	synonymous_variant	Silent	SNP	T	G	G			CHC1209T																					ENST00000440890.2:c.693T>G	p.Ala231=	p.A231=	ENST00000440890		231	gcT/gcG	0	not done		synonymous	
CCDC82		inserm.fr	GRCh37	11	96104270	96104270	+	synonymous_variant	Silent	SNP	A	G	G			CHC879T																					ENST00000278520.5:c.1116T>C	p.Asp372=	p.D372=	ENST00000278520		372	gaT/gaC	0	not done		synonymous	
UNC5C		inserm.fr	GRCh37	4	96123990	96123990	+	missense_variant	Missense_Mutation	SNP	T	G	G			BCM257T																					ENST00000453304.1:c.2028A>C	p.Lys676Asn	p.K676N	ENST00000453304	NM_003728.3	676	aaA/aaC	0	validated		possiblydamaging	
RPA4		inserm.fr	GRCh37	X	96139779	96139779	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2052T																					ENST00000373040.3:c.470A>G	p.His157Arg	p.H157R	ENST00000373040	NM_013347.4	157	cAt/cGt	0	not done		probablydamaging	
DIAPH2		inserm.fr	GRCh37	X	96185759	96185759	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC703T																					ENST00000324765.8:c.1006C>G	p.Leu336Val	p.L336V	ENST00000324765		336	Ctt/Gtt	0	validated		probablydamaging	
FAM120A		inserm.fr	GRCh37	9	96238541	96238541	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2099T																					ENST00000277165.6:c.725A>G	p.Asn242Ser	p.N242S	ENST00000277165	NM_014612.3	242	aAt/aGt	0	not done		probablydamaging	
LNPEP		inserm.fr	GRCh37	5	96362362	96362362	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC909T																					ENST00000231368.5:c.2765A>G	p.Gln922Arg	p.Q922R	ENST00000231368	NM_005575.2	922	cAg/cGg	0	not done		probablydamaging	
DNAJC3		inserm.fr	GRCh37	13	96412989	96412989	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC303T									Valid												ENST00000602402.1:c.785A>G	p.Tyr262Cys	p.Y262C	ENST00000602402	NM_006260.4	262	tAt/tGt	0	validated		probablydamaging	
ANKRD36C		inserm.fr	GRCh37	2	96589313	96589313	+	downstream_gene_variant	3'Flank	SNP	A	G	G			CHC1545T																								ENST00000528268				0	not done		synonymous	
TMEM201		inserm.fr	GRCh37	1	9661393	9661393	+	synonymous_variant	Silent	SNP	C	G	G			CHC451T																					ENST00000340381.6:c.837C>G	p.Pro279=	p.P279=	ENST00000340381	NM_001130924.2	279	ccC/ccG	0	not done		synonymous	
EPHA6		inserm.fr	GRCh37	3	96706224	96706224	+	stop_gained	Nonsense_Mutation	SNP	C	G	G			CHC301T									Valid												ENST00000389672.5:c.501C>G	p.Tyr167Ter	p.Y167*	ENST00000389672	NM_001080448.2	167	taC/taG	0	validated		damaging	
STARD7		inserm.fr	GRCh37	2	96858899	96858899	+	splice_acceptor_variant	Splice_Site	SNP	C	G	G			CHC1545T																					ENST00000337288.5:c.661-1G>C		p.X221_splice	ENST00000337288	NM_020151.3			0	not done		damaging	
NR2F2		inserm.fr	GRCh37	15	96880694	96880694	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1053T									Valid												ENST00000394166.3:c.1088T>G	p.Leu363Arg	p.L363R	ENST00000394166	NM_021005.3	363	cTt/cGt	0	validated		probablydamaging	
PTDSS1		inserm.fr	GRCh37	8	97307339	97307339	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC884T									Valid												ENST00000517309.1:c.455A>G	p.Asn152Ser	p.N152S	ENST00000517309	NM_014754.1	152	aAc/aGc	0	validated		probablydamaging	
ALDH18A1		inserm.fr	GRCh37	10	97369952	97369952	+	splice_donor_variant	Splice_Site	SNP	A	G	G			BCM375T									Valid												ENST00000371224.2:c.2206+2T>C		p.X736_splice	ENST00000371224	NM_002860.3			0	validated		damaging	
TCTN3		inserm.fr	GRCh37	10	97423908	97423908	+	synonymous_variant	Silent	SNP	T	G	G			CHC433T																					ENST00000371217.5:c.1740A>C	p.Gly580=	p.G580=	ENST00000371217		580	ggA/ggC	0	validated		synonymous	
TCTN3		inserm.fr	GRCh37	10	97443288	97443288	+	synonymous_variant	Silent	SNP	T	G	G			BCM501T																					ENST00000371217.5:c.1194A>C	p.Ile398=	p.I398=	ENST00000371217		398	atA/atC	0	validated		synonymous	
C10orf131		inserm.fr	GRCh37	10	97681831	97681831	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	G	G			BCM399T									Valid												ENST00000423344.2:c.71A>G	p.Lys24Arg	p.K24R	ENST00000423344	NM_001130446.2	24	aAa/aGa	0	validated		probablydamaging	
BRPF1		inserm.fr	GRCh37	3	9780951	9780951	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1746T																					ENST00000383829.2:c.868A>G	p.Ile290Val	p.I290V	ENST00000383829	NM_001003694.1	290	Atc/Gtc	0	not done		probablydamaging	
OR5H15		inserm.fr	GRCh37	3	97887892	97887892	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC917T																					ENST00000356526.2:c.349A>G	p.Thr117Ala	p.T117A	ENST00000356526	NM_001005515.1	117	Aca/Gca	0	validated		benign	
BAIAP2L1		inserm.fr	GRCh37	7	97923387	97923387	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	G	G			CHC793T									Valid												ENST00000005260.8:c.1459A>C	p.Ser487Arg	p.S487R	ENST00000005260	NM_018842.4	487	Agc/Cgc	0	validated		probablydamaging	
OR5H2		inserm.fr	GRCh37	3	98002230	98002230	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCM275T																					ENST00000355273.2:c.499C>G	p.Leu167Val	p.L167V	ENST00000355273	NM_001005482.1	167	Ctt/Gtt	0	validated		benign	
OPALIN		inserm.fr	GRCh37	10	98105835	98105835	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC2034T																					ENST00000371172.3:c.289G>C	p.Gly97Arg	p.G97R	ENST00000371172	NM_033207.3	97	Gga/Cga	0	not done		probablydamaging	
RAP2A		inserm.fr	GRCh37	13	98116519	98116519	+	synonymous_variant	Silent	SNP	A	G	G			CHC1035T																					ENST00000245304.4:c.375A>G	p.Glu125=	p.E125=	ENST00000245304	NM_021033.6	125	gaA/gaG	0	validated		synonymous	
RGMB		inserm.fr	GRCh37	5	98128836	98128836	+	synonymous_variant	Silent	SNP	C	G	G			CHC303T																					ENST00000308234.7:c.816C>G	p.Val272=	p.V272=	ENST00000308234	NM_001012761.2	272	gtC/gtG	0	validated		synonymous	
TLL2		inserm.fr	GRCh37	10	98155657	98155657	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM783T																					ENST00000357947.3:c.1505T>C	p.Val502Ala	p.V502A	ENST00000357947	NM_012465.3	502	gTg/gCg	0	validated		possiblydamaging	
PTCH1		inserm.fr	GRCh37	9	98221972	98221972	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1207T																					ENST00000331920.6:c.2797G>C	p.Ala933Pro	p.A933P	ENST00000331920	NM_000264.3	933	Gcg/Ccg	0	not done		probablydamaging	
TMEM131		inserm.fr	GRCh37	2	98408890	98408890	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1629T																					ENST00000186436.5:c.4103T>C	p.Val1368Ala	p.V1368A	ENST00000186436	NM_015348.1	1368	gTg/gCg	0	not done		benign	
TRRAP		inserm.fr	GRCh37	7	98547106	98547106	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1738T																					ENST00000359863.4:c.4834A>G	p.Ile1612Val	p.I1612V	ENST00000359863	NM_001244580.1	1612	Atc/Gtc	0	not done		benign	
LCOR		inserm.fr	GRCh37	10	98715250	98715250	+	synonymous_variant	Silent	SNP	A	G	G			BCM337T																					ENST00000371097.4:c.873A>G	p.Lys291=	p.K291=	ENST00000371097		291	aaA/aaG	0	validated		synonymous	
C10orf12		inserm.fr	GRCh37	10	98743409	98743409	+	synonymous_variant	Silent	SNP	A	G	G			CHC1742T																					ENST00000286067.2:c.2262A>G	p.Ala754=	p.A754=	ENST00000286067	NM_015652.2	754	gcA/gcG	0	not done		synonymous	
VWA3B		inserm.fr	GRCh37	2	98928808	98928808	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC051T																					ENST00000477737.1:c.3881T>G	p.Leu1294Arg	p.L1294R	ENST00000477737	NM_144992.4	1294	cTt/cGt	0	validated		benign	
BUD31		inserm.fr	GRCh37	7	99015154	99015154	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM759T																					ENST00000403633.2:c.320A>G	p.Gln107Arg	p.Q107R	ENST00000403633		107	cAg/cGg	0	validated		probablydamaging	
STK24		inserm.fr	GRCh37	13	99171500	99171500	+	synonymous_variant	Silent	SNP	C	G	G			BCB157T																					ENST00000376547.3:c.306G>C	p.Leu102=	p.L102=	ENST00000376547	NM_003576.3	102	ctG/ctC	0	validated		synonymous	
IGF1R		inserm.fr	GRCh37	15	99251196	99251196	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1746T																					ENST00000268035.6:c.500A>G	p.Asn167Ser	p.N167S	ENST00000268035	NM_000875.3	167	aAc/aGc	0	not done		possiblydamaging	
CYP3A7		inserm.fr	GRCh37	7	99319945	99319945	+	synonymous_variant	Silent	SNP	A	G	G			CHC1207T																					ENST00000336374.2:c.192T>C	p.Cys64=	p.C64=	ENST00000336374	NM_000765.3	64	tgT/tgC	0	not done		synonymous	
WNK1		inserm.fr	GRCh37	12	993379	993379	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2127T																					ENST00000315939.6:c.3814A>G	p.Lys1272Glu	p.K1272E	ENST00000315939	NM_018979.3	1272	Aaa/Gaa	0	not done		benign	
C10orf62		inserm.fr	GRCh37	10	99350287	99350287	+	synonymous_variant	Silent	SNP	A	G	G			CHC1191T																					ENST00000370640.3:c.633A>G	p.Pro211=	p.P211=	ENST00000370640	NM_001009997.2	211	ccA/ccG	0	not done		synonymous	
ANKS1B		inserm.fr	GRCh37	12	99446952	99446952	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC451T																					ENST00000547776.2:c.2761G>C	p.Glu921Gln	p.E921Q	ENST00000547776	NM_152788.4	921	Gag/Cag	0	validated		probablydamaging	
KIAA1211L		inserm.fr	GRCh37	2	99449426	99449426	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1626T																					ENST00000397899.2:c.274T>C	p.Ser92Pro	p.S92P	ENST00000397899	NM_207362.2	92	Tct/Cct	0	not done		probablydamaging	
DOCK9		inserm.fr	GRCh37	13	99502325	99502325	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2029T									Valid												ENST00000376460.1:c.3989T>C	p.Leu1330Pro	p.L1330P	ENST00000376460	NM_015296.2	1330	cTt/cCt	0	validated		probablydamaging	
ZNF782		inserm.fr	GRCh37	9	99589431	99589431	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1152T																					ENST00000481138.1:c.175A>C	p.Thr59Pro	p.T59P	ENST00000481138	NM_001001662.1	59	Aca/Cca	0	not done		possiblydamaging	
PCDH19		inserm.fr	GRCh37	X	99597071	99597071	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	G	G			CHC2215T																					ENST00000373034.4:c.2678G>C	p.Ser893Thr	p.S893T	ENST00000373034	NM_001184880.1	893	aGc/aCc	0	not done		damaging	
DOCK9		inserm.fr	GRCh37	13	99630123	99630123	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T																					ENST00000376460.1:c.41A>C	p.Lys14Thr	p.K14T	ENST00000376460	NM_015296.2	14	aAa/aCa	0	validated			
ZKSCAN1		inserm.fr	GRCh37	7	99631759	99631759	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1915T																					ENST00000324306.6:c.1631C>G	p.Ala544Gly	p.A544G	ENST00000324306	NM_003439.1	544	gCc/gGc	0	validated		benign	
SYNM		inserm.fr	GRCh37	15	99672193	99672193	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC303T																					ENST00000336292.6:c.3625T>G	p.Ser1209Ala	p.S1209A	ENST00000336292	NM_145728.2	1209	Tct/Gct	0	validated		benign	
TAF6		inserm.fr	GRCh37	7	99709773	99709773	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC433T									Valid												ENST00000437822.2:c.789G>C	p.Glu263Asp	p.E263D	ENST00000437822	NM_001190415.1	263	gaG/gaC	0	validated		probablydamaging	
OLFM2		inserm.fr	GRCh37	19	9971389	9971389	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC1731T																					ENST00000264833.4:c.145G>C	p.Val49Leu	p.V49L	ENST00000264833	NM_058164.2	49	Gtg/Ctg	0	not done		probablydamaging	
TSGA10		inserm.fr	GRCh37	2	99720513	99720513	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC889T																					ENST00000393483.3:c.528A>C	p.Glu176Asp	p.E176D	ENST00000393483	NM_025244.2	176	gaA/gaC	0	not done		probablydamaging	
FKBP10		inserm.fr	GRCh37	17	9975571	9975571			NA		T	G				CHC433T																													validated		probablydamaging	
LPPR4		inserm.fr	GRCh37	1	99766515	99766515	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC2029T																					ENST00000370185.3:c.785A>G	p.Tyr262Cys	p.Y262C	ENST00000370185	NM_014839.4	262	tAt/tGt	0	not done		probablydamaging	
MITD1		inserm.fr	GRCh37	2	99797324	99797324	+	missense_variant	Missense_Mutation	SNP	C	G	G			BCB151T																					ENST00000289359.2:c.121G>C	p.Gly41Arg	p.G41R	ENST00000289359	NM_138798.1	41	Ggg/Cgg	0	validated		probablydamaging	
LYG2		inserm.fr	GRCh37	2	99860595	99860595	+	synonymous_variant	Silent	SNP	A	G	G			CHC1629T																					ENST00000333017.2:c.387T>C	p.Asp129=	p.D129=	ENST00000333017	NM_175735.3	129	gaT/gaC	0	not done		synonymous	
USP45		inserm.fr	GRCh37	6	99887682	99887682	+	missense_variant	Missense_Mutation	SNP	A	G	G			BCM321T																					ENST00000327681.6:c.2123T>C	p.Met708Thr	p.M708T	ENST00000327681	NM_001080481.1	708	aTg/aCg	0	validated		benign	
TSPAN6		inserm.fr	GRCh37	X	99888490	99888490	+	missense_variant	Missense_Mutation	SNP	T	G	G			CHC1531T																					ENST00000373020.4:c.497A>C	p.Asn166Thr	p.N166T	ENST00000373020	NM_003270.3	166	aAt/aCt	0	not done		benign	
LYG1		inserm.fr	GRCh37	2	99901207	99901207	+	missense_variant	Missense_Mutation	SNP	C	G	G			CHC469T									Valid												ENST00000409448.1:c.410G>C	p.Arg137Thr	p.R137T	ENST00000409448		137	aGa/aCa	0	validated		possiblydamaging	
R3HCC1L		inserm.fr	GRCh37	10	99969425	99969425	+	synonymous_variant	Silent	SNP	A	G	G			CHC1749T																					ENST00000298999.3:c.1554A>G	p.Ala518=	p.A518=	ENST00000298999	NM_014472.4	518	gcA/gcG	0	not done		synonymous	
R3HCC1L		inserm.fr	GRCh37	10	99991381	99991381	+	missense_variant	Missense_Mutation	SNP	A	G	G			CHC1604T																					ENST00000298999.3:c.1898A>G	p.Glu633Gly	p.E633G	ENST00000298999	NM_014472.4	633	gAa/gGa	0	not done		probablydamaging	
MEPCE		inserm.fr	GRCh37	7	100030692	100030692	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC433T									Valid												ENST00000310512.2:c.1822C>T	p.Arg608Cys	p.R608C	ENST00000310512	NM_019606.5	608	Cgc/Tgc	0	validated		probablydamaging	
NIT2		inserm.fr	GRCh37	3	100065029	100065029	+	synonymous_variant	Silent	SNP	C	T	T			CHC059T																					ENST00000394140.4:c.435C>T	p.Tyr145=	p.Y145=	ENST00000394140	NM_020202.4	145	taC/taT	0	validated		synonymous	
NYAP1		inserm.fr	GRCh37	7	100086208	100086208	+	synonymous_variant	Silent	SNP	G	T	T			CHC961T																					ENST00000300179.2:c.864G>T	p.Pro288=	p.P288=	ENST00000300179	NM_173564.3	288	ccG/ccT	0	validated		synonymous	
NYAP1		inserm.fr	GRCh37	7	100086824	100086824	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM483T									Valid												ENST00000300179.2:c.1480G>T	p.Val494Phe	p.V494F	ENST00000300179	NM_173564.3	494	Gtc/Ttc	0	validated		probablydamaging	
C9orf174		inserm.fr	GRCh37	9	100092833	100092833	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1207T																					ENST00000375202.2:c.2190A>T	p.Lys730Asn	p.K730N	ENST00000375202		730	aaA/aaT	0	not done		benign	
NOX1		inserm.fr	GRCh37	X	100105196	100105196	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000372966.3:c.1077G>A	p.Gly359=	p.G359=	ENST00000372966	NM_001271815.1	359	ggG/ggA	0	not done		synonymous	
NOX1		inserm.fr	GRCh37	X	100117722	100117722	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1725T																					ENST00000372966.3:c.425C>A	p.Ser142Tyr	p.S142Y	ENST00000372966	NM_001271815.1	142	tCc/tAc	0	not done		probablydamaging	
NOX1		inserm.fr	GRCh37	X	100118484	100118484	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372966.3:c.242G>A	p.Gly81Asp	p.G81D	ENST00000372966	NM_001271815.1	81	gGc/gAc	0	not done		probablydamaging	
CNTN5		inserm.fr	GRCh37	11	100126602	100126602	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000524871.1:c.2116C>T	p.Leu706Phe	p.L706F	ENST00000524871	NM_014361.3	706	Ctt/Ttt	0	not done		probablydamaging	
C9orf174		inserm.fr	GRCh37	9	100132205	100132205	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	T	T			CHC1566T																					ENST00000375202.2:c.4323A>T	p.Glu1441Asp	p.E1441D	ENST00000375202		1441	gaA/gaT	0	not done		probablydamaging	
C9orf174		inserm.fr	GRCh37	9	100136924	100136924	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1201T																					ENST00000375202.2:c.4832G>T	p.Gly1611Val	p.G1611V	ENST00000375202		1611	gGa/gTa	0	not done		probablydamaging	
CNTN5		inserm.fr	GRCh37	11	100141959	100141959	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB231T									Valid												ENST00000524871.1:c.2300G>T	p.Arg767Leu	p.R767L	ENST00000524871	NM_014361.3	767	cGc/cTc	0	validated		probablydamaging	
AFF3		inserm.fr	GRCh37	2	100167952	100167952	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000356421.2:c.3740G>A	p.Ser1247Asn	p.S1247N	ENST00000356421	NM_001025108.1	1247	aGc/aAc	0	not done		probablydamaging	
XKRX		inserm.fr	GRCh37	X	100169439	100169439	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC197T																					ENST00000372956.2:c.1238C>A	p.Thr413Asn	p.T413N	ENST00000372956		413	aCc/aAc	0	validated		benign	
MOSPD3		inserm.fr	GRCh37	7	100210434	100210434	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1756T																					ENST00000393950.2:c.20A>T	p.Gln7Leu	p.Q7L	ENST00000393950	NM_023948.4	7	cAg/cTg	0	validated		probablydamaging	
CNTN5		inserm.fr	GRCh37	11	100211342	100211342	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1209T																					ENST00000524871.1:c.2878C>T	p.Pro960Ser	p.P960S	ENST00000524871	NM_014361.3	960	Cca/Tca	0	not done		probablydamaging	
TFR2		inserm.fr	GRCh37	7	100218717	100218717	+	synonymous_variant	Silent	SNP	C	T	T			CHC1545T																					ENST00000462107.1:c.2169G>A	p.Ser723=	p.S723=	ENST00000462107		723	tcG/tcA	0	validated		synonymous	
ST8SIA4		inserm.fr	GRCh37	5	100222081	100222081	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000231461.5:c.469G>A	p.Gly157Arg	p.G157R	ENST00000231461	NM_005668.5	157	Gga/Aga	0	validated		probablydamaging	
TFR2		inserm.fr	GRCh37	7	100225010	100225010	+	synonymous_variant	Silent	SNP	C	T	T			BCM399T																					ENST00000462107.1:c.1872G>A	p.Gln624=	p.Q624=	ENST00000462107		624	caG/caA	0	validated		synonymous	
TFR2		inserm.fr	GRCh37	7	100230702	100230702	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000462107.1:c.771G>A	p.Gln257=	p.Q257=	ENST00000462107		257	caG/caA	0	not done		synonymous	
ACTL6B		inserm.fr	GRCh37	7	100244885	100244885	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM567T																					ENST00000160382.5:c.782C>A	p.Ala261Asp	p.A261D	ENST00000160382	NM_016188.4	261	gCc/gAc	0	validated		possiblydamaging	
GIGYF1		inserm.fr	GRCh37	7	100280772	100280772	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM711T																					ENST00000275732.5:c.2275C>A	p.Pro759Thr	p.P759T	ENST00000275732	NM_022574.4	759	Cca/Aca	0	validated		benign	
GIGYF1		inserm.fr	GRCh37	7	100283679	100283679	+	synonymous_variant	Silent	SNP	A	T	T			CHC609T																					ENST00000275732.5:c.972T>A	p.Pro324=	p.P324=	ENST00000275732	NM_022574.4	324	ccT/ccA	0	validated		synonymous	
ZAN		inserm.fr	GRCh37	7	100352867	100352867	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1756T																					ENST00000546292.1:c.3143C>T	p.Ala1048Val	p.A1048V	ENST00000546292	NM_173059.1	1048	gCc/gTc	0	not done		probablydamaging	
ZAN		inserm.fr	GRCh37	7	100352988	100352988	+	synonymous_variant	Silent	SNP	C	T	T			CHC1754T																					ENST00000546292.1:c.3264C>T	p.Ile1088=	p.I1088=	ENST00000546292	NM_173059.1	1088	atC/atT	0	not done		synonymous	
GRIN3B		inserm.fr	GRCh37	19	1003593	1003593	+	synonymous_variant	Silent	SNP	G	T	T			CHC2115T																					ENST00000234389.3:c.891G>T	p.Val297=	p.V297=	ENST00000234389	NM_138690.1	297	gtG/gtT	0	validated		synonymous	
GPR128		inserm.fr	GRCh37	3	100364908	100364908	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM483T									Valid												ENST00000273352.3:c.1066G>T	p.Glu356Ter	p.E356*	ENST00000273352	NM_032787.2	356	Gag/Tag	0	validated		damaging	
ANKS1B		inserm.fr	GRCh37	12	100377901	100377901	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1028T																					ENST00000547776.2:c.115C>A	p.Pro39Thr	p.P39T	ENST00000547776	NM_152788.4	39	Ccc/Acc	0	not done		possiblydamaging	
EML1		inserm.fr	GRCh37	14	100404161	100404161	+	synonymous_variant	Silent	SNP	C	T	T			BCM339T																					ENST00000334192.4:c.2160C>T	p.Pro720=	p.P720=	ENST00000334192	NM_001008707.1	720	ccC/ccT	0	validated		synonymous	
EPHB4		inserm.fr	GRCh37	7	100410775	100410775	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000358173.3:c.1812G>A	p.Arg604=	p.R604=	ENST00000358173	NM_004444.4	604	agG/agA	0	not done		synonymous	
EPHB4		inserm.fr	GRCh37	7	100419985	100419985	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM399T									Valid												ENST00000358173.3:c.716G>A	p.Cys239Tyr	p.C239Y	ENST00000358173	NM_004444.4	239	tGc/tAc	0	validated		probablydamaging	
EPHB4		inserm.fr	GRCh37	7	100421316	100421316	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000358173.3:c.361G>A	p.Asp121Asn	p.D121N	ENST00000358173	NM_004444.4	121	Gac/Aac	0	not done		possiblydamaging	
SLC12A9		inserm.fr	GRCh37	7	100459100	100459100	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC796T																					ENST00000354161.3:c.1430C>T	p.Ala477Val	p.A477V	ENST00000354161	NM_020246.3	477	gCg/gTg	0	validated		possiblydamaging	
SLC35A3		inserm.fr	GRCh37	1	100488010	100488010	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC898T																					ENST00000370155.3:c.956C>T	p.Ala319Val	p.A319V	ENST00000370155	NM_012243.2	319	gCa/gTa	0	not done		benign	
ACHE		inserm.fr	GRCh37	7	100490107	100490107	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000302913.4:c.1401G>A	p.Thr467=	p.T467=	ENST00000302913	NM_015831.2	467	acG/acA	0	not done		synonymous	
ACHE		inserm.fr	GRCh37	7	100491037	100491037	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000302913.4:c.817G>A	p.Gly273Arg	p.G273R	ENST00000302913	NM_015831.2	273	Gga/Aga	0	not done		possiblydamaging	
HPSE2		inserm.fr	GRCh37	10	100503652	100503652	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370552.3:c.772G>A	p.Glu258Lys	p.E258K	ENST00000370552	NM_021828.4	258	Gaa/Aaa	0	not done		probablydamaging	
TAF7L		inserm.fr	GRCh37	X	100532702	100532702	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372907.3:c.841G>A	p.Glu281Lys	p.E281K	ENST00000372907	NM_024885.3	281	Gaa/Aaa	0	not done		probablydamaging	
ABI3BP		inserm.fr	GRCh37	3	100570773	100570773	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2352T																					ENST00000284322.5:c.1171G>A	p.Val391Ile	p.V391I	ENST00000284322	NM_015429.3	391	Gtt/Att	0	not done		benign	
RP11-766F14.2		inserm.fr	GRCh37	4	100571186	100571186	+	synonymous_variant	Silent	SNP	C	T	T			BCB167T																					ENST00000511828.1:c.4620G>A	p.Arg1540=	p.R1540=	ENST00000511828		1540	cgG/cgA	0	validated		synonymous	
LOC285556		inserm.fr	GRCh37	4	100573247	100573247	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000511828.1:c.2559G>A	p.Gly853=	p.G853=	ENST00000511828		853	ggG/ggA	0	not done		synonymous	
VPS13B		inserm.fr	GRCh37	8	100589761	100589761	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC469T									Valid												ENST00000358544.2:c.5195C>T	p.Thr1732Ile	p.T1732I	ENST00000358544	NM_017890.4	1732	aCa/aTa	0	validated		probablydamaging	
TRMT13		inserm.fr	GRCh37	1	100613850	100613850	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2216T																					ENST00000370141.2:c.1218A>T	p.Arg406Ser	p.R406S	ENST00000370141	NM_019083.2	406	agA/agT	0	not done		benign	
DEGS2		inserm.fr	GRCh37	14	100615434	100615434	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000305631.5:c.696G>A	p.Glu232=	p.E232=	ENST00000305631	NM_206918.2	232	gaG/gaA	0	not done		synonymous	
DEGS2		inserm.fr	GRCh37	14	100615892	100615892	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1035T									Valid												ENST00000305631.5:c.238G>A	p.Val80Met	p.V80M	ENST00000305631	NM_206918.2	80	Gtg/Atg	0	validated		probablydamaging	
ZIC5		inserm.fr	GRCh37	13	100622805	100622805	+	synonymous_variant	Silent	SNP	G	T	T			CHC884T																					ENST00000267294.4:c.1125C>A	p.Pro375=	p.P375=	ENST00000267294	NM_033132.3	375	ccC/ccA	0	validated		synonymous	
AFF3		inserm.fr	GRCh37	2	100623450	100623450	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000356421.2:c.592G>A	p.Gly198Arg	p.G198R	ENST00000356421	NM_001025108.1	198	Gga/Aga	0	not done		probablydamaging	
VPS13B		inserm.fr	GRCh37	8	100654359	100654359	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1626T																					ENST00000358544.2:c.5616G>T	p.Lys1872Asn	p.K1872N	ENST00000358544	NM_017890.4	1872	aaG/aaT	0	not done		possiblydamaging	
VPS13B		inserm.fr	GRCh37	8	100654571	100654571	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC314T									Valid												ENST00000358544.2:c.5828G>T	p.Arg1943Leu	p.R1943L	ENST00000358544	NM_017890.4	1943	cGa/cTa	0	validated		probablydamaging	
ADAMTS17		inserm.fr	GRCh37	15	100657083	100657083	+	synonymous_variant	Silent	SNP	C	T	T			CHC1545T																					ENST00000268070.4:c.1857G>A	p.Lys619=	p.K619=	ENST00000268070	NM_139057.2	619	aaG/aaA	0	not done		synonymous	
MUC17		inserm.fr	GRCh37	7	100676939	100676939	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1531T																					ENST00000306151.4:c.2242C>T	p.Pro748Ser	p.P748S	ENST00000306151	NM_001040105.1	748	Cca/Tca	0	not done		benign	
MUC17		inserm.fr	GRCh37	7	100678140	100678140	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1137T																					ENST00000306151.4:c.3443C>T	p.Thr1148Ile	p.T1148I	ENST00000306151	NM_001040105.1	1148	aCc/aTc	0	not done		probablydamaging	
MUC17		inserm.fr	GRCh37	7	100681467	100681467	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1915T																					ENST00000306151.4:c.6770C>T	p.Ala2257Val	p.A2257V	ENST00000306151	NM_001040105.1	2257	gCc/gTc	0	validated		benign	
ADAMTS17		inserm.fr	GRCh37	15	100695414	100695414	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1741T																					ENST00000268070.4:c.1293C>A	p.Cys431Ter	p.C431*	ENST00000268070	NM_139057.2	431	tgC/tgA	0	not done		damaging	
ADAMTS17		inserm.fr	GRCh37	15	100695432	100695432	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1741T																					ENST00000268070.4:c.1275C>A	p.Asp425Glu	p.D425E	ENST00000268070	NM_139057.2	425	gaC/gaA	0	not done		probablydamaging	
TRIM56		inserm.fr	GRCh37	7	100731741	100731741	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC361TA																					ENST00000306085.6:c.1148G>T	p.Gly383Val	p.G383V	ENST00000306085	NM_030961.1	383	gGa/gTa	0	validated		possiblydamaging	
SCYL2		inserm.fr	GRCh37	12	100732849	100732849	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000360820.2:c.2689C>T	p.Gln897Ter	p.Q897*	ENST00000360820	NM_017988.4	897	Cag/Tag	0	not done		damaging	
ARMCX4		inserm.fr	GRCh37	X	100745950	100745950	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1530T																					ENST00000423738.3:c.2374G>T	p.Ala792Ser	p.A792S	ENST00000423738	NM_001256155.1	792	Gct/Tct	0	not done			
ARMCX4		inserm.fr	GRCh37	X	100748786	100748786	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000423738.3:c.5210C>T	p.Pro1737Leu	p.P1737L	ENST00000423738	NM_001256155.1	1737	cCt/cTt	0	not done			
SERPINE1		inserm.fr	GRCh37	7	100775199	100775199	+	synonymous_variant	Silent	SNP	G	T	T			CHC805T																					ENST00000223095.4:c.549G>T	p.Leu183=	p.L183=	ENST00000223095	NM_000602.4	183	ctG/ctT	0	not done		synonymous	
SERPINE1		inserm.fr	GRCh37	7	100775278	100775278	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1191T																					ENST00000223095.4:c.628C>T	p.Arg210Cys	p.R210C	ENST00000223095	NM_000602.4	210	Cgc/Tgc	0	not done		probablydamaging	
SERPINE1		inserm.fr	GRCh37	7	100775291	100775291	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1715T																					ENST00000223095.4:c.641A>T	p.Lys214Ile	p.K214I	ENST00000223095	NM_000602.4	214	aAa/aTa	0	not done		possiblydamaging	
SLC17A8		inserm.fr	GRCh37	12	100787176	100787176	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC432T																					ENST00000323346.5:c.503C>T	p.Ser168Leu	p.S168L	ENST00000323346	NM_001145288.1	168	tCg/tTg	0	not done		probablydamaging	
GRIN3B		inserm.fr	GRCh37	19	1007937	1007937	+	synonymous_variant	Silent	SNP	C	T	T			CHC314T																					ENST00000234389.3:c.2281C>T	p.Leu761=	p.L761=	ENST00000234389	NM_138690.1	761	Ctg/Ttg	0	validated		synonymous	
SLC25A47		inserm.fr	GRCh37	14	100795158	100795158	+	synonymous_variant	Silent	SNP	G	T	T			CHC314T																					ENST00000361529.3:c.423G>T	p.Pro141=	p.P141=	ENST00000361529	NM_207117.2	141	ccG/ccT	0	validated		synonymous	
SLC25A47		inserm.fr	GRCh37	14	100795298	100795298	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC433T																					ENST00000361529.3:c.563G>T	p.Arg188Leu	p.R188L	ENST00000361529	NM_207117.2	188	cGg/cTg	0	validated		probablydamaging	
WDR1		inserm.fr	GRCh37	4	10079547	10079547	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000499869.2:c.1399G>A	p.Gly467Ser	p.G467S	ENST00000499869		467	Ggc/Agc	0	not done		benign	
COL5A3		inserm.fr	GRCh37	19	10080258	10080258	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000264828.3:c.4091G>A	p.Gly1364Asp	p.G1364D	ENST00000264828	NM_015719.3	1364	gGc/gAc	0	not done		probablydamaging	
NAT16		inserm.fr	GRCh37	7	100815600	100815600	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000300303.2:c.870G>A	p.Gly290=	p.G290=	ENST00000300303	NM_198571.2	290	ggG/ggA	0	not done		synonymous	
SIM1		inserm.fr	GRCh37	6	100838861	100838861	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1205T																					ENST00000369208.3:c.1677T>A	p.His559Gln	p.H559Q	ENST00000369208		559	caT/caA	0	validated		benign	
COL5A3		inserm.fr	GRCh37	19	10085004	10085004	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000264828.3:c.3423G>A	p.Val1141=	p.V1141=	ENST00000264828	NM_015719.3	1141	gtG/gtA	0	not done		synonymous	
WDR1		inserm.fr	GRCh37	4	10086104	10086104	+	synonymous_variant	Silent	SNP	C	T	T			CHC1598T																					ENST00000499869.2:c.1002G>A	p.Lys334=	p.K334=	ENST00000499869		334	aaG/aaA	0	not done		synonymous	
VPS13B		inserm.fr	GRCh37	8	100866327	100866327	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC805T																					ENST00000358544.2:c.10785G>T	p.Leu3595Phe	p.L3595F	ENST00000358544	NM_017890.4	3595	ttG/ttT	0	not done		probablydamaging	
VPS13B		inserm.fr	GRCh37	8	100874045	100874045	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB325T									Valid												ENST00000358544.2:c.11161C>T	p.Arg3721Trp	p.R3721W	ENST00000358544	NM_017890.4	3721	Cgg/Tgg	0	validated		probablydamaging	
CLDN15		inserm.fr	GRCh37	7	100876162	100876162	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2202T																					ENST00000401528.1:c.416C>A	p.Ala139Asp	p.A139D	ENST00000401528	NM_001185080.1	139	gCc/gAc	0	validated		probablydamaging	
VPS13B		inserm.fr	GRCh37	8	100883021	100883021	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC793T									Valid												ENST00000358544.2:c.11476C>T	p.His3826Tyr	p.H3826Y	ENST00000358544	NM_017890.4	3826	Cat/Tat	0	validated		probablydamaging	
COX6C		inserm.fr	GRCh37	8	100904199	100904199	+	synonymous_variant	Silent	SNP	C	T	T			CHC891T																					ENST00000520468.2:c.51G>A	p.Arg17=	p.R17=	ENST00000520468	NM_004374.3	17	agG/agA	0	not done		synonymous	
LONRF2		inserm.fr	GRCh37	2	100906810	100906810	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000393437.3:c.1830C>A	p.Asp610Glu	p.D610E	ENST00000393437	NM_198461.3	610	gaC/gaA	0	not done		probablydamaging	
ARMCX2		inserm.fr	GRCh37	X	100911456	100911456	+	synonymous_variant	Silent	SNP	G	T	T			CHC1715T																					ENST00000328766.5:c.1119C>A	p.Arg373=	p.R373=	ENST00000328766	NM_014782.5	373	cgC/cgA	0	not done		synonymous	
ARMCX2		inserm.fr	GRCh37	X	100911791	100911791	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000328766.5:c.784G>A	p.Gly262Arg	p.G262R	ENST00000328766	NM_014782.5	262	Ggg/Agg	0	not done		probablydamaging	
WDR25		inserm.fr	GRCh37	14	100992215	100992215	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1595T									Valid												ENST00000335290.6:c.1110A>T	p.Arg370Ser	p.R370S	ENST00000335290	NM_024515.4	370	agA/agT	0	validated		possiblydamaging	
RGS22		inserm.fr	GRCh37	8	100994254	100994254	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000360863.6:c.3271G>A	p.Ala1091Thr	p.A1091T	ENST00000360863	NM_015668.3	1091	Gct/Act	0	not done		possiblydamaging	
HPSE2		inserm.fr	GRCh37	10	100995521	100995521	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000370552.3:c.39C>A	p.Ser13=	p.S13=	ENST00000370552	NM_021828.4	13	tcC/tcA	0	validated		synonymous	
PGR		inserm.fr	GRCh37	11	100999180	100999180	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM545T																					ENST00000325455.5:c.622G>A	p.Ala208Thr	p.A208T	ENST00000325455	NM_001202474.3	208	Gcc/Acc	0	validated		probablydamaging	
GRHL1		inserm.fr	GRCh37	2	10101461	10101461	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC805T																					ENST00000324907.9:c.565A>T	p.Asn189Tyr	p.N189Y	ENST00000324907	NM_198182.2	189	Aat/Tat	0	not done		benign	
COL26A1		inserm.fr	GRCh37	7	101063280	101063280	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC902T																					ENST00000313669.7:c.181A>T	p.Thr61Ser	p.T61S	ENST00000313669	NM_001278563.1	61	Aca/Tca	0	not done		possiblydamaging	
SENP7		inserm.fr	GRCh37	3	101080582	101080582	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000394095.2:c.1600G>A	p.Gly534Arg	p.G534R	ENST00000394095	NM_020654.3	534	Gga/Aga	0	not done		probablydamaging	
CNNM1		inserm.fr	GRCh37	10	101117292	101117292	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000356713.4:c.1597C>T	p.Gln533Ter	p.Q533*	ENST00000356713	NM_020348.2	533	Cag/Tag	0	not done		damaging	
FBXO43		inserm.fr	GRCh37	8	101146049	101146049	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM489T																					ENST00000428847.2:c.2108G>A	p.Arg703Gln	p.R703Q	ENST00000428847	NM_001029860.3	703	cGg/cAg	0	validated		possiblydamaging	
DLK1		inserm.fr	GRCh37	14	101195371	101195371	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000341267.4:c.230C>T	p.Thr77Ile	p.T77I	ENST00000341267	NM_003836.5	77	aCc/aTc	0	not done		benign	
RDH8		inserm.fr	GRCh37	19	10124188	10124188	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000591589.1:c.75C>T	p.Pro25=	p.P25=	ENST00000591589		25	ccC/ccT	0	not done		synonymous	
NKX2-3		inserm.fr	GRCh37	10	101294900	101294900	+	synonymous_variant	Silent	SNP	C	T	T			CHC1085T																					ENST00000344586.7:c.517C>T	p.Leu173=	p.L173=	ENST00000344586	NM_145285.2	173	Ctg/Ttg	0	validated		synonymous	
RNF19A		inserm.fr	GRCh37	8	101299761	101299761	+	synonymous_variant	Silent	SNP	A	T	T			CHC1052T																					ENST00000519449.1:c.642T>A	p.Pro214=	p.P214=	ENST00000519449	NM_015435.4	214	ccT/ccA	0	validated		synonymous	
PCNP		inserm.fr	GRCh37	3	101304311	101304311	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1717T																					ENST00000265260.3:c.310C>T	p.Pro104Ser	p.P104S	ENST00000265260	NM_020357.1	104	Cca/Tca	0	not done		possiblydamaging	
ASCC3		inserm.fr	GRCh37	6	101315849	101315849	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000369162.2:c.25G>A	p.Ala9Thr	p.A9T	ENST00000369162	NM_006828.2	9	Gcc/Acc	0	not done		benign	
RTL1		inserm.fr	GRCh37	14	101349651	101349651	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1148T																					ENST00000534062.1:c.1475T>A	p.Phe492Tyr	p.F492Y	ENST00000534062	NM_001134888.2	492	tTt/tAt	0	not done		probablydamaging	
SLC30A7		inserm.fr	GRCh37	1	101361893	101361893	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1205T																					ENST00000370112.4:c.75G>T	p.Trp25Cys	p.W25C	ENST00000370112	NM_133496.4	25	tgG/tgT	0	not done		probablydamaging	
SLC25A28		inserm.fr	GRCh37	10	101371024	101371024	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1035T									Valid												ENST00000370495.4:c.677G>A	p.Arg226His	p.R226H	ENST00000370495	NM_031212.3	226	cGc/cAc	0	validated		probablydamaging	
TCEAL6		inserm.fr	GRCh37	X	101395934	101395934	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372774.3:c.370G>A	p.Asp124Asn	p.D124N	ENST00000372774	NM_001006938.2	124	Gac/Aac	0	not done		probablydamaging	
TCEAL6		inserm.fr	GRCh37	X	101396078	101396078	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372774.3:c.226G>A	p.Gly76Ser	p.G76S	ENST00000372774	NM_001006938.2	76	Ggc/Agc	0	not done		possiblydamaging	
ALDH1A3		inserm.fr	GRCh37	15	101427849	101427849	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC799T																					ENST00000329841.5:c.277G>T	p.Ala93Ser	p.A93S	ENST00000329841	NM_000693.2	93	Gcc/Tcc	0	not done		probablydamaging	
TMEM259		inserm.fr	GRCh37	19	1014282	1014282	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000356663.3:c.416G>A	p.Gly139Asp	p.G139D	ENST00000356663	NM_001033026.1	139	gGc/gAc	0	not done		benign	
CEP97		inserm.fr	GRCh37	3	101446331	101446331	+	synonymous_variant	Silent	SNP	G	T	T			CHC892T																					ENST00000341893.3:c.291G>T	p.Gly97=	p.G97=	ENST00000341893		97	ggG/ggT	0	not done		synonymous	
GABBR2		inserm.fr	GRCh37	9	101470799	101470799	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000259455.2:c.221G>A	p.Gly74Glu	p.G74E	ENST00000259455	NM_005458.7	74	gGg/gAg	0	not done		possiblydamaging	
CLEC1B		inserm.fr	GRCh37	12	10149830	10149830	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC320T																					ENST00000298527.6:c.212G>A	p.Gly71Glu	p.G71E	ENST00000298527	NM_016509.3	71	gGa/gAa	0	validated		benign	
ANO4		inserm.fr	GRCh37	12	101510459	101510459	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000392979.3:c.2348G>T	p.Cys783Phe	p.C783F	ENST00000392979	NM_178826.3	783	tGc/tTc	0	not done		probablydamaging	
LRRK1		inserm.fr	GRCh37	15	101528990	101528990	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000388948.3:c.585C>T	p.Arg195=	p.R195=	ENST00000388948	NM_024652.3	195	cgC/cgT	0	not done		synonymous	
ABCC2		inserm.fr	GRCh37	10	101560288	101560288	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM543T									Valid												ENST00000370449.4:c.1177C>T	p.Arg393Trp	p.R393W	ENST00000370449	NM_000392.3	393	Cgg/Tgg	0	validated		probablydamaging	
NFKBIZ		inserm.fr	GRCh37	3	101575932	101575932	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2103T																					ENST00000326172.5:c.1840C>T	p.Arg614Cys	p.R614C	ENST00000326172	NM_031419.3	614	Cgc/Tgc	0	not done		probablydamaging	
ABCC2		inserm.fr	GRCh37	10	101577083	101577083	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2321T									Valid												ENST00000370449.4:c.2113C>T	p.Pro705Ser	p.P705S	ENST00000370449	NM_000392.3	705	Cca/Tca	0	validated		probablydamaging	
SLC5A8		inserm.fr	GRCh37	12	101584289	101584289	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000536262.2:c.790G>A	p.Val264Met	p.V264M	ENST00000536262	NM_145913.3	264	Gtg/Atg	0	not done		probablydamaging	
GALNT12		inserm.fr	GRCh37	9	101599344	101599344	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000375011.3:c.1126G>T	p.Ala376Ser	p.A376S	ENST00000375011	NM_024642.4	376	Gct/Tct	0	not done		probablydamaging	
GALNT12		inserm.fr	GRCh37	9	101602367	101602367	+	synonymous_variant	Silent	SNP	G	T	T			CHC2127T																					ENST00000375011.3:c.1296G>T	p.Val432=	p.V432=	ENST00000375011	NM_024642.4	432	gtG/gtT	0	not done		synonymous	
LRRK1		inserm.fr	GRCh37	15	101602855	101602855	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1044T																					ENST00000388948.3:c.4874C>T	p.Ala1625Val	p.A1625V	ENST00000388948	NM_024652.3	1625	gCt/gTt	0	not done		probablydamaging	
SLC5A8		inserm.fr	GRCh37	12	101603327	101603327	+	synonymous_variant	Silent	SNP	C	T	T			BCM759T																					ENST00000536262.2:c.300G>A	p.Ala100=	p.A100=	ENST00000536262	NM_145913.3	100	gcG/gcA	0	validated		synonymous	
LRRK1		inserm.fr	GRCh37	15	101606355	101606355	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000388948.3:c.5713C>T	p.Gln1905Ter	p.Q1905*	ENST00000388948	NM_024652.3	1905	Cag/Tag	0	not done		damaging	
SNX31		inserm.fr	GRCh37	8	101629949	101629949	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC469T																					ENST00000311812.2:c.331G>A	p.Asp111Asn	p.D111N	ENST00000311812	NM_152628.3	111	Gac/Aac	0	validated		benign	
TBC1D8		inserm.fr	GRCh37	2	101670714	101670714	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1592T																					ENST00000376840.4:c.442G>A	p.Glu148Lys	p.E148K	ENST00000376840		148	Gag/Aag	0	not done		possiblydamaging	
UTP20		inserm.fr	GRCh37	12	101705509	101705509	+	synonymous_variant	Silent	SNP	C	T	T			CHC1736T																					ENST00000261637.4:c.2244C>T	p.His748=	p.H748=	ENST00000261637	NM_014503.2	748	caC/caT	0	not done		synonymous	
NALCN		inserm.fr	GRCh37	13	101707762	101707762	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1744T																					ENST00000251127.6:c.5102G>A	p.Cys1701Tyr	p.C1701Y	ENST00000251127	NM_052867.2	1701	tGc/tAc	0	not done		possiblydamaging	
UTP20		inserm.fr	GRCh37	12	101714714	101714714	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	T	T			BCM337T																					ENST00000261637.4:c.2914A>T	p.Arg972Trp	p.R972W	ENST00000261637	NM_014503.2	972	Agg/Tgg	0	validated		probablydamaging	
NALCN		inserm.fr	GRCh37	13	101717867	101717867	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1629T																					ENST00000251127.6:c.4493G>A	p.Arg1498His	p.R1498H	ENST00000251127	NM_052867.2	1498	cGt/cAt	0	not done		probablydamaging	
CHSY1		inserm.fr	GRCh37	15	101718933	101718933	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000254190.3:c.1069G>A	p.Gly357Arg	p.G357R	ENST00000254190	NM_014918.4	357	Gga/Aga	0	not done		probablydamaging	
CHSY1		inserm.fr	GRCh37	15	101775432	101775432	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000254190.3:c.671G>A	p.Gly224Asp	p.G224D	ENST00000254190	NM_014918.4	224	gGc/gAc	0	not done		probablydamaging	
SLCO6A1		inserm.fr	GRCh37	5	101816043	101816043	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1714T																					ENST00000506729.1:c.454G>A	p.Asp152Asn	p.D152N	ENST00000506729		152	Gat/Aat	0	not done		probablydamaging	
NALCN		inserm.fr	GRCh37	13	101828667	101828667	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM257T									Valid												ENST00000251127.6:c.1823T>A	p.Leu608Gln	p.L608Q	ENST00000251127	NM_052867.2	608	cTa/cAa	0	validated		probablydamaging	
MUC6		inserm.fr	GRCh37	11	1018574	1018574	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000421673.2:c.4227G>A	p.Pro1409=	p.P1409=	ENST00000421673	NM_005961.2	1409	ccG/ccA	0	validated		synonymous	
CNOT11		inserm.fr	GRCh37	2	101869908	101869908	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1746T																					ENST00000289382.3:c.482G>T	p.Gly161Val	p.G161V	ENST00000289382	NM_017546.4	161	gGc/gTc	0	validated		benign	
KLF11		inserm.fr	GRCh37	2	10187963	10187963	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1712T																					ENST00000305883.1:c.499C>T	p.Pro167Ser	p.P167S	ENST00000305883	NM_003597.4	167	Ccc/Tcc	0	not done		benign	
CLCN4		inserm.fr	GRCh37	X	10188795	10188795	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000380833.4:c.2070C>T	p.Pro690=	p.P690=	ENST00000380833	NM_001830.3	690	ccC/ccT	0	not done		synonymous	
GPRASP1		inserm.fr	GRCh37	X	101910031	101910031	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000537097.1:c.1190C>T	p.Ala397Val	p.A397V	ENST00000537097	NM_001184727.1	397	gCc/gTc	0	not done		benign	
NALCN		inserm.fr	GRCh37	13	101944593	101944593	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000251127.6:c.924C>A	p.Phe308Leu	p.F308L	ENST00000251127	NM_052867.2	308	ttC/ttA	0	not done		possiblydamaging	
C11orf70		inserm.fr	GRCh37	11	101946667	101946667	+	synonymous_variant	Silent	SNP	C	T	T			CHC429T																					ENST00000434758.2:c.499C>T	p.Leu167=	p.L167=	ENST00000434758	NM_032930.2	167	Ctg/Ttg	0	validated		synonymous	
GPRASP2		inserm.fr	GRCh37	X	101971166	101971166	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1597T																					ENST00000543253.1:c.1369G>T	p.Asp457Tyr	p.D457Y	ENST00000543253	NM_001184874.2	457	Gat/Tat	0	not done		probablydamaging	
YAP1		inserm.fr	GRCh37	11	101981727	101981727	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T																					ENST00000282441.5:c.148G>T	p.Ala50Ser	p.A50S	ENST00000282441	NM_001130145.2	50	Gcc/Tcc	0	validated		benign	
SPDYE6		inserm.fr	GRCh37	7	101992515	101992515	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC609T																					ENST00000331921.6:n.1084G>A		*362*	ENST00000331921				0	validated		synonymous	
CWF19L1		inserm.fr	GRCh37	10	101993030	101993030	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000354105.4:c.1571G>A	p.Arg524His	p.R524H	ENST00000354105	NM_018294.4	524	cGc/cAc	0	validated		possiblydamaging	
CWF19L1		inserm.fr	GRCh37	10	102016204	102016204	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC322T									Valid												ENST00000354105.4:c.319G>A	p.Gly107Arg	p.G107R	ENST00000354105	NM_018294.4	107	Ggg/Agg	0	validated		probablydamaging	
PPP3CA		inserm.fr	GRCh37	4	102020862	102020862	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000394854.3:c.402G>A	p.Trp134Ter	p.W134*	ENST00000394854	NM_000944.4	134	tgG/tgA	0	not done		damaging	
CWF19L1		inserm.fr	GRCh37	10	102021770	102021770	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1148T																					ENST00000354105.4:c.74T>A	p.Val25Asp	p.V25D	ENST00000354105	NM_018294.4	25	gTt/gAt	0	not done		probablydamaging	
DIO3		inserm.fr	GRCh37	14	102028585	102028585	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000510508.4:c.752G>T	p.Ser251Ile	p.S251I	ENST00000510508		251	aGc/aTc	0	not done		probablydamaging	
NALCN		inserm.fr	GRCh37	13	102051444	102051444	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000251127.6:c.34G>A	p.Ala12Thr	p.A12T	ENST00000251127	NM_052867.2	12	Gcc/Acc	0	not done		benign	
KRT8P11		inserm.fr	GRCh37	9	102068441	102068441	+	non_coding_transcript_exon_variant	RNA	SNP	G	T	T			CHC1754T																					ENST00000539942.1:n.1048G>T		*350*	ENST00000539942				0	not done			
GNPTAB		inserm.fr	GRCh37	12	102140955	102140955	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000299314.7:c.3758G>A	p.Arg1253Gln	p.R1253Q	ENST00000299314	NM_024312.4	1253	cGa/cAa	0	validated		possiblydamaging	
MYH13		inserm.fr	GRCh37	17	10216654	10216654	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000418404.3:c.4002G>A	p.Ala1334=	p.A1334=	ENST00000418404		1334	gcG/gcA	0	not done		synonymous	
TM2D3		inserm.fr	GRCh37	15	102182808	102182808	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000333202.3:c.618G>A	p.Leu206=	p.L206=	ENST00000333202	NM_078474.2	206	ctG/ctA	0	not done		synonymous	
PPAN		inserm.fr	GRCh37	19	10220886	10220886	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000393796.4:c.786C>T	p.Asn262=	p.N262=	ENST00000393796		262	aaC/aaT	0	not done		synonymous	
WNT8B		inserm.fr	GRCh37	10	102241787	102241787	+	synonymous_variant	Silent	SNP	G	T	T			BCM489T																					ENST00000343737.5:c.486G>T	p.Leu162=	p.L162=	ENST00000343737	NM_003393.3	162	ctG/ctT	0	validated		synonymous	
P2RY11		inserm.fr	GRCh37	19	10225271	10225271	+	synonymous_variant	Silent	SNP	C	T	T			CHC313T																					ENST00000321826.4:c.982C>T	p.Leu328=	p.L328=	ENST00000321826	NM_002566.4	328	Ctg/Ttg	0	validated		synonymous	
SEC31B		inserm.fr	GRCh37	10	102265955	102265955	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370345.3:c.886G>A	p.Val296Ile	p.V296I	ENST00000370345	NM_015490.3	296	Gta/Ata	0	not done		benign	
EIF3G		inserm.fr	GRCh37	19	10227483	10227483	+	synonymous_variant	Silent	SNP	C	T	T			CHC1717T																					ENST00000253108.4:c.588G>A	p.Leu196=	p.L196=	ENST00000253108	NM_003755.3	196	ctG/ctA	0	validated		synonymous	
OLFM3		inserm.fr	GRCh37	1	102296354	102296354	+	synonymous_variant	Silent	SNP	G	T	T			CHC796T																					ENST00000370103.4:c.246C>A	p.Val82=	p.V82=	ENST00000370103	NM_058170.2	82	gtC/gtA	0	validated		synonymous	
PAM		inserm.fr	GRCh37	5	102309859	102309859	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC097T																					ENST00000304400.7:c.1202G>T	p.Arg401Met	p.R401M	ENST00000304400		401	aGg/aTg	0	not done		probablydamaging	
UBE4B		inserm.fr	GRCh37	1	10231254	10231254	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC896T																					ENST00000343090.6:c.3392C>T	p.Pro1131Leu	p.P1131L	ENST00000343090	NM_001105562.2	1131	cCc/cTc	0	not done		probablydamaging	
RAD52		inserm.fr	GRCh37	12	1023168	1023168	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC433T									Valid												ENST00000358495.3:c.1087C>A	p.Gln363Lys	p.Q363K	ENST00000358495	NM_134424.2	363	Cag/Aag	0	validated		possiblydamaging	
MYH13		inserm.fr	GRCh37	17	10233767	10233767	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000418404.3:c.2372G>A	p.Ser791Asn	p.S791N	ENST00000418404		791	aGc/aAc	0	not done		benign	
PAM		inserm.fr	GRCh37	5	102338782	102338782	+	synonymous_variant	Silent	SNP	A	T	T			CHC1753T																					ENST00000304400.7:c.1659A>T	p.Pro553=	p.P553=	ENST00000304400		553	ccA/ccT	0	not done		synonymous	
FAM173B		inserm.fr	GRCh37	5	10235374	10235374	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC469T									Valid												ENST00000511437.1:c.445-1G>A		p.X149_splice	ENST00000511437	NM_199133.3			0	validated		damaging	
GIN1		inserm.fr	GRCh37	5	102433111	102433111	+	synonymous_variant	Silent	SNP	C	T	T			BCM529T																					ENST00000399004.2:c.915G>A	p.Val305=	p.V305=	ENST00000399004	NM_017676.2	305	gtG/gtA	0	validated		synonymous	
MMP20		inserm.fr	GRCh37	11	102448158	102448158	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			BCM543T																					ENST00000260228.2:c.1352-1G>A		p.X451_splice	ENST00000260228	NM_004771.3			0	validated		damaging	
OLFM3		inserm.fr	GRCh37	1	102462349	102462349	+	synonymous_variant	Silent	SNP	G	T	T			CHC912T																					ENST00000370103.4:c.24C>A	p.Leu8=	p.L8=	ENST00000370103	NM_058170.2	8	ctC/ctA	0	validated		synonymous	
FBXL13		inserm.fr	GRCh37	7	102462622	102462622	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1044T																					ENST00000313221.4:c.1883C>A	p.Ser628Ter	p.S628*	ENST00000313221	NM_145032.3	628	tCg/tAg	0	not done		damaging	
NUP37		inserm.fr	GRCh37	12	102468835	102468835	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000552283.1:c.811G>A	p.Gly271Ser	p.G271S	ENST00000552283		271	Ggt/Agt	0	not done		probablydamaging	
DYNC1H1		inserm.fr	GRCh37	14	102476795	102476795	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	T	T			CHC2048T																					ENST00000360184.4:c.6404A>T	p.Glu2135Val	p.E2135V	ENST00000360184	NM_001376.4	2135	gAg/gTg	0	not done		possiblydamaging	
MMP20		inserm.fr	GRCh37	11	102487744	102487744	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000260228.2:c.173G>A	p.Gly58Asp	p.G58D	ENST00000260228	NM_004771.3	58	gGt/gAt	0	not done		benign	
DYNC1H1		inserm.fr	GRCh37	14	102508568	102508568	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1629T																					ENST00000360184.4:c.12218C>T	p.Ser4073Phe	p.S4073F	ENST00000360184	NM_001376.4	4073	tCt/tTt	0	not done		probablydamaging	
TCEAL8		inserm.fr	GRCh37	X	102508776	102508776	+	synonymous_variant	Silent	SNP	C	T	T			BCB157T																					ENST00000372685.3:c.132G>A	p.Gln44=	p.Q44=	ENST00000372685	NM_153333.2	44	caG/caA	0	validated		synonymous	
DYNC1H1		inserm.fr	GRCh37	14	102509014	102509014	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC2103T																					ENST00000360184.4:c.12442G>T	p.Glu4148Ter	p.E4148*	ENST00000360184	NM_001376.4	4148	Gag/Tag	0	not done		damaging	
PAX2		inserm.fr	GRCh37	10	102510597	102510597	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000428433.1:c.359C>T	p.Ala120Val	p.A120V	ENST00000428433	NM_003987.3	120	gCc/gTc	0	not done		probablydamaging	
FBXL13		inserm.fr	GRCh37	7	102524133	102524133	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000313221.4:c.1108-1G>A		p.X370_splice	ENST00000313221	NM_145032.3			0	not done		damaging	
HSP90AA1		inserm.fr	GRCh37	14	102551296	102551296	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1209T																					ENST00000334701.7:c.1069G>A	p.Ala357Thr	p.A357T	ENST00000334701	NM_001017963.2	357	Gct/Act	0	not done		possiblydamaging	
GRHL2		inserm.fr	GRCh37	8	102570731	102570731	+	synonymous_variant	Silent	SNP	C	T	T			CHC1534T																					ENST00000251808.3:c.369C>T	p.Asn123=	p.N123=	ENST00000251808	NM_024915.3	123	aaC/aaT	0	validated		synonymous	
LRRC17		inserm.fr	GRCh37	7	102574460	102574460	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1061T									Valid												ENST00000339431.4:c.100C>T	p.Arg34Trp	p.R34W	ENST00000339431	NM_001031692.2	34	Cgg/Tgg	0	validated		probablydamaging	
MMP8		inserm.fr	GRCh37	11	102592404	102592404	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM567T																					ENST00000236826.3:c.437T>A	p.Leu146His	p.L146H	ENST00000236826	NM_002424.2	146	cTc/cAc	0	validated		probablydamaging	
IL1R2		inserm.fr	GRCh37	2	102636171	102636171	+	synonymous_variant	Silent	SNP	C	T	T			CHC1192T																					ENST00000332549.3:c.585C>T	p.His195=	p.H195=	ENST00000332549	NM_004633.3	195	caC/caT	0	not done		synonymous	
MMP1		inserm.fr	GRCh37	11	102667748	102667748	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000315274.6:c.496G>A	p.Gly166Arg	p.G166R	ENST00000315274	NM_002421.3	166	Gga/Aga	0	not done		benign	
RRM2		inserm.fr	GRCh37	2	10269194	10269194	+	synonymous_variant	Silent	SNP	G	T	T			CHC801T																					ENST00000360566.2:c.1110G>T	p.Val370=	p.V370=	ENST00000360566	NM_001165931.1	370	gtG/gtT	0	not done		synonymous	
BANK1		inserm.fr	GRCh37	4	102712103	102712103	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000322953.4:c.66C>T	p.Pro22=	p.P22=	ENST00000322953	NM_017935.4	22	ccC/ccT	0	not done		synonymous	
MUC6		inserm.fr	GRCh37	11	1027355	1027355	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM275T									Valid												ENST00000421673.2:c.2144G>A	p.Cys715Tyr	p.C715Y	ENST00000421673	NM_005961.2	715	tGt/tAt	0	validated		probablydamaging	
SEMA4G		inserm.fr	GRCh37	10	102743851	102743851	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB157T																					ENST00000210633.3:c.2495C>T	p.Thr832Met	p.T832M	ENST00000210633		832	aCg/aTg	0	validated		probablydamaging	
NAPEPLD		inserm.fr	GRCh37	7	102743916	102743916	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC303T									Valid												ENST00000417955.1:c.1142G>A	p.Gly381Glu	p.G381E	ENST00000417955		381	gGa/gAa	0	validated		probablydamaging	
C10orf2		inserm.fr	GRCh37	10	102749400	102749400	+	splice_acceptor_variant	Splice_Site	SNP	G	T	T			BCM501T																					ENST00000311916.2:c.1244-1G>T		p.X415_splice	ENST00000311916	NM_021830.4			0	validated		damaging	
IL1R1		inserm.fr	GRCh37	2	102785089	102785089	+	synonymous_variant	Silent	SNP	G	T	T			CHC1209T																					ENST00000410023.1:c.687G>T	p.Val229=	p.V229=	ENST00000410023		229	gtG/gtT	0	not done		synonymous	
ZNF839		inserm.fr	GRCh37	14	102792502	102792502	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB157T																					ENST00000442396.2:c.469G>T	p.Val157Leu	p.V157L	ENST00000442396		157	Gtg/Ttg	0	validated		benign	
ZNF839		inserm.fr	GRCh37	14	102792832	102792832	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1751T																					ENST00000442396.2:c.799A>T	p.Ile267Leu	p.I267L	ENST00000442396		267	Ata/Tta	0	not done		probablydamaging	
ZNF839		inserm.fr	GRCh37	14	102800945	102800945	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1749T																					ENST00000442396.2:c.1471G>T	p.Ala491Ser	p.A491S	ENST00000442396		491	Gct/Tct	0	not done		possiblydamaging	
CYP2W1		inserm.fr	GRCh37	7	1028033	1028033	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1207T																					ENST00000308919.7:c.1264G>T	p.Ala422Ser	p.A422S	ENST00000308919	NM_017781.2	422	Gcc/Tcc	0	not done		probablydamaging	
MUC6		inserm.fr	GRCh37	11	1028261	1028261	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1148T																					ENST00000421673.2:c.1718G>A	p.Arg573His	p.R573H	ENST00000421673	NM_005961.2	573	cGt/cAt	0	not done		probablydamaging	
IL1RL2		inserm.fr	GRCh37	2	102828617	102828617	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000264257.2:c.707C>T	p.Ser236Leu	p.S236L	ENST00000264257	NM_003854.2	236	tCa/tTa	0	validated		possiblydamaging	
ABR		inserm.fr	GRCh37	17	1028565	1028565	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000302538.5:c.199G>A	p.Gly67Arg	p.G67R	ENST00000302538	NM_021962.3	67	Ggg/Agg	0	not done		possiblydamaging	
DNMT1		inserm.fr	GRCh37	19	10291055	10291055	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000340748.4:c.416G>A	p.Arg139Lys	p.R139K	ENST00000340748		139	aGg/aAg	0	not done		probablydamaging	
MORF4L2		inserm.fr	GRCh37	X	102931135	102931135	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1731T																					ENST00000423833.2:c.821G>A	p.Ser274Asn	p.S274N	ENST00000423833		274	aGt/aAt	0	not done		benign	
GLRA4		inserm.fr	GRCh37	X	102962418	102962418	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB167T																					ENST00000372617.4:c.1108C>A	p.Arg370Ser	p.R370S	ENST00000372617	NM_001024452.2	370	Cgt/Agt	0	validated		possiblydamaging	
IL18R1		inserm.fr	GRCh37	2	102984374	102984374	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC2103T																					ENST00000409599.1:c.148G>T	p.Glu50Ter	p.E50*	ENST00000409599		50	Gaa/Taa	0	not done		damaging	
LBX1		inserm.fr	GRCh37	10	102988402	102988402	+	synonymous_variant	Silent	SNP	C	T	T			BCM695T																					ENST00000370193.2:c.171G>A	p.Ala57=	p.A57=	ENST00000370193	NM_006562.4	57	gcG/gcA	0	validated		synonymous	
DYNC2H1		inserm.fr	GRCh37	11	103043987	103043987	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000398093.3:c.5511C>T	p.Asp1837=	p.D1837=	ENST00000398093		1837	gaC/gaT	0	validated		synonymous	
SLC26A5		inserm.fr	GRCh37	7	103048409	103048409	+	synonymous_variant	Silent	SNP	C	T	T			BCM337T																					ENST00000306312.3:c.777G>A	p.Val259=	p.V259=	ENST00000306312	NM_198999.2	259	gtG/gtA	0	validated		synonymous	
DYNC2H1		inserm.fr	GRCh37	11	103049929	103049929	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000398093.3:c.6314C>T	p.Ala2105Val	p.A2105V	ENST00000398093		2105	gCc/gTc	0	not done		probablydamaging	
INVS		inserm.fr	GRCh37	9	103055013	103055013	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1061T																					ENST00000262457.2:c.2474C>T	p.Pro825Leu	p.P825L	ENST00000262457	NM_014425.3	825	cCt/cTt	0	validated		benign	
IL18RAP		inserm.fr	GRCh37	2	103068428	103068428	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM703T																					ENST00000264260.2:c.1587A>T	p.Lys529Asn	p.K529N	ENST00000264260	NM_003853.2	529	aaA/aaT	0	validated		probablydamaging	
DYNC2H1		inserm.fr	GRCh37	11	103070845	103070845	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2206T																					ENST00000398093.3:c.8159C>T	p.Pro2720Leu	p.P2720L	ENST00000398093		2720	cCt/cTt	0	not done		possiblydamaging	
SLC9A4		inserm.fr	GRCh37	2	103120127	103120127	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2115T																					ENST00000295269.4:c.941A>T	p.Tyr314Phe	p.Y314F	ENST00000295269	NM_001011552.3	314	tAc/tTc	0	not done		probablydamaging	
TATDN2		inserm.fr	GRCh37	3	10312504	10312504	+	synonymous_variant	Silent	SNP	C	T	T			CHC322T																					ENST00000287652.4:c.1638C>T	p.Cys546=	p.C546=	ENST00000287652	NM_014760.3	546	tgC/tgT	0	validated		synonymous	
SLC9A4		inserm.fr	GRCh37	2	103136369	103136369	+	synonymous_variant	Silent	SNP	C	T	T			CHC798T																					ENST00000295269.4:c.1773C>T	p.Ser591=	p.S591=	ENST00000295269	NM_001011552.3	591	tcC/tcT	0	validated		synonymous	
RELN		inserm.fr	GRCh37	7	103151453	103151453	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000428762.1:c.8120-1G>A		p.X2707_splice	ENST00000428762	NM_005045.3			0	not done		damaging	
RELN		inserm.fr	GRCh37	7	103155863	103155863	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000428762.1:c.7888G>A	p.Asp2630Asn	p.D2630N	ENST00000428762	NM_005045.3	2630	Gat/Aat	0	not done		benign	
MYH8		inserm.fr	GRCh37	17	10315741	10315741	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000403437.2:c.1362G>A	p.Gln454=	p.Q454=	ENST00000403437	NM_002472.2	454	caG/caA	0	not done		synonymous	
RCOR1		inserm.fr	GRCh37	14	103192805	103192805	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000262241.6:c.1420G>T	p.Ala474Ser	p.A474S	ENST00000262241	NM_015156.3	474	Gct/Tct	0	not done		possiblydamaging	
TATDN2		inserm.fr	GRCh37	3	10320692	10320692	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T									Valid												ENST00000287652.4:c.2269C>T	p.Arg757Cys	p.R757C	ENST00000287652	NM_014760.3	757	Cgc/Tgc	0	validated		probablydamaging	
SLC39A8		inserm.fr	GRCh37	4	103228616	103228616	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000394833.2:c.529G>A	p.Ala177Thr	p.A177T	ENST00000394833	NM_022154.5	177	Gca/Aca	0	not done		probablydamaging	
TMEFF1		inserm.fr	GRCh37	9	103235892	103235892	+	synonymous_variant	Silent	SNP	C	T	T			BCM501T																					ENST00000374879.4:c.66C>T	p.Cys22=	p.C22=	ENST00000374879	NM_003692.4	22	tgC/tgT	0	validated		synonymous	
SLC9A2		inserm.fr	GRCh37	2	103236460	103236460	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000233969.2:c.153C>T	p.Ser51=	p.S51=	ENST00000233969	NM_003048.3	51	agC/agT	0	not done		synonymous	
PAH		inserm.fr	GRCh37	12	103238125	103238125	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000553106.1:c.1054G>A	p.Gly352Ser	p.G352S	ENST00000553106	NM_000277.1	352	Ggt/Agt	0	not done		probablydamaging	
TPP2		inserm.fr	GRCh37	13	103257255	103257255	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC059T									Valid												ENST00000376065.4:c.278C>T	p.Ser93Leu	p.S93L	ENST00000376065	NM_003291.2	93	tCa/tTa	0	validated		possiblydamaging	
H2BFWT		inserm.fr	GRCh37	X	103267760	103267760	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM275T									Valid												ENST00000217926.5:c.473G>A	p.Gly158Asp	p.G158D	ENST00000217926	NM_001002916.4	158	gGc/gAc	0	validated		probablydamaging	
RELN		inserm.fr	GRCh37	7	103280998	103280998	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC961T																					ENST00000428762.1:c.2061T>A	p.His687Gln	p.H687Q	ENST00000428762	NM_005045.3	687	caT/caA	0	validated		probablydamaging	
BTRC		inserm.fr	GRCh37	10	103292173	103292173	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1531T																					ENST00000370187.3:c.962G>T	p.Arg321Leu	p.R321L	ENST00000370187	NM_033637.3	321	cGa/cTa	0	not done		probablydamaging	
COL11A1		inserm.fr	GRCh37	1	103343709	103343709	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1629T																					ENST00000370096.3:c.5287T>A	p.Tyr1763Asn	p.Y1763N	ENST00000370096	NM_001854.3	1763	Tat/Aat	0	not done		probablydamaging	
COL11A1		inserm.fr	GRCh37	1	103347263	103347263	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370096.3:c.5030G>A	p.Arg1677Lys	p.R1677K	ENST00000370096	NM_001854.3	1677	aGg/aAg	0	not done		possiblydamaging	
SLC25A53		inserm.fr	GRCh37	X	103349161	103349161	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB167T																					ENST00000357421.4:c.780C>A	p.Asn260Lys	p.N260K	ENST00000357421	NM_001012755.3	260	aaC/aaA	0	validated		benign	
SLC25A53		inserm.fr	GRCh37	X	103349853	103349853	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000357421.4:c.88G>A	p.Ala30Thr	p.A30T	ENST00000357421	NM_001012755.3	30	Gcc/Acc	0	not done		benign	
COL11A1		inserm.fr	GRCh37	1	103355025	103355025	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370096.3:c.4450G>A	p.Ala1484Thr	p.A1484T	ENST00000370096	NM_001854.3	1484	Gca/Aca	0	not done		benign	
ZCCHC18		inserm.fr	GRCh37	X	103359236	103359236	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000537356.3:c.434C>T	p.Ala145Val	p.A145V	ENST00000537356	NM_001143978.2	145	gCc/gTc	0	not done		benign	
UBR5		inserm.fr	GRCh37	8	103372838	103372838	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000520539.1:c.245G>A	p.Gly82Asp	p.G82D	ENST00000520539	NM_015902.5	82	gGt/gAt	0	not done		possiblydamaging	
CCDC168		inserm.fr	GRCh37	13	103383165	103383165	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000322527.2:c.5995G>A	p.Gly1999Arg	p.G1999R	ENST00000322527	NM_001146197.1	1999	Ggg/Agg	0	not done		probablydamaging	
CCDC168		inserm.fr	GRCh37	13	103388700	103388700	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1603T																					ENST00000322527.2:c.460G>A	p.Ala154Thr	p.A154T	ENST00000322527	NM_001146197.1	154	Gca/Aca	0	not done		benign	
CCDC168		inserm.fr	GRCh37	13	103394618	103394618	+	upstream_gene_variant	5'Flank	SNP	C	T	T			CHC892T																								ENST00000430111				0	not done			
AMN		inserm.fr	GRCh37	14	103395261	103395261	+	synonymous_variant	Silent	SNP	C	T	T			BCM545T																					ENST00000299155.5:c.462C>T	p.Leu154=	p.L154=	ENST00000299155	NM_030943.3	154	ctC/ctT	0	validated		synonymous	
CCDC168		inserm.fr	GRCh37	13	103399644	103399644	+	downstream_gene_variant	3'Flank	SNP	C	T	T			CHC892T																								ENST00000430111				0	not done			
COL11A1		inserm.fr	GRCh37	1	103461460	103461460	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1055T																					ENST00000370096.3:c.2300C>A	p.Ala767Glu	p.A767E	ENST00000370096	NM_001854.3	767	gCa/gAa	0	validated		probablydamaging	
COL11A1		inserm.fr	GRCh37	1	103480072	103480072	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2112T																					ENST00000370096.3:c.1567G>A	p.Ala523Thr	p.A523T	ENST00000370096	NM_001854.3	523	Gct/Act	0	not done		probablydamaging	
SOX8		inserm.fr	GRCh37	16	1035089	1035089	+	synonymous_variant	Silent	SNP	C	T	T			CHC197T																					ENST00000293894.3:c.1044C>T	p.Tyr348=	p.Y348=	ENST00000293894	NM_014587.3	348	taC/taT	0	validated		synonymous	
ERCC5		inserm.fr	GRCh37	13	103519026	103519026	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T																					ENST00000355739.4:c.2364G>T	p.Met788Ile	p.M788I	ENST00000355739	NM_000123.3	788	atG/atT	0	validated		probablydamaging	
NFKB1		inserm.fr	GRCh37	4	103522136	103522136	+	synonymous_variant	Silent	SNP	C	T	T			CHC121T																					ENST00000226574.4:c.1722C>T	p.Asp574=	p.D574=	ENST00000226574	NM_003998.3	574	gaC/gaT	0	validated		synonymous	
MGEA5		inserm.fr	GRCh37	10	103557786	103557786	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361464.3:c.1935G>A	p.Trp645Ter	p.W645*	ENST00000361464	NM_012215.3	645	tgG/tgA	0	not done		damaging	
KCNIP2		inserm.fr	GRCh37	10	103599577	103599577	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000461105.1:c.73+3676G>A		*25*	ENST00000461105				0	not done		synonymous	
CNN2		inserm.fr	GRCh37	19	1036223	1036223	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1763T																					ENST00000263097.4:c.485G>T	p.Gly162Val	p.G162V	ENST00000263097	NM_004368.2	162	gGc/gTc	0	validated		probablydamaging	
MRPL4		inserm.fr	GRCh37	19	10363231	10363231	+	synonymous_variant	Silent	SNP	C	T	T			CHC1053T																					ENST00000253099.6:c.129C>T	p.Leu43=	p.L43=	ENST00000253099	NM_146388.1	43	ctC/ctT	0	validated		synonymous	
KIF1B		inserm.fr	GRCh37	1	10363557	10363557	+	intron_variant	Intron	SNP	G	T	T			CHC1754T																					ENST00000263934.6:c.1977+6253G>T		*659*	ENST00000263934	NM_015074.3			0	not done			
KLF10		inserm.fr	GRCh37	8	103663925	103663925	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1725T																					ENST00000285407.6:c.635G>A	p.Cys212Tyr	p.C212Y	ENST00000285407	NM_005655.3	212	tGt/tAt	0	not done		benign	
MYH4		inserm.fr	GRCh37	17	10366878	10366878	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1629T																					ENST00000255381.2:c.731C>A	p.Ser244Tyr	p.S244Y	ENST00000255381	NM_017533.2	244	tCc/tAc	0	not done		probablydamaging	
ATP2B2		inserm.fr	GRCh37	3	10370596	10370596	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC961T									Valid												ENST00000360273.2:c.3634G>A	p.Ala1212Thr	p.A1212T	ENST00000360273	NM_001001331.2	1212	Gcc/Acc	0	validated		possiblydamaging	
UBE2D3		inserm.fr	GRCh37	4	103720618	103720618	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1742T																					ENST00000357194.6:c.350C>A	p.Pro117Gln	p.P117Q	ENST00000357194	NM_181893.2	117	cCa/cAa	0	not done		probablydamaging	
ICAM1		inserm.fr	GRCh37	19	10385629	10385629	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM275T									Valid												ENST00000264832.3:c.256G>T	p.Glu86Ter	p.E86*	ENST00000264832	NM_000201.2	86	Gaa/Taa	0	validated		damaging	
KIF1B		inserm.fr	GRCh37	1	10386386	10386386	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM275T									Valid												ENST00000263934.6:c.2755G>T	p.Asp919Tyr	p.D919Y	ENST00000263934	NM_015074.3	919	Gac/Tac	0	validated		probablydamaging	
DDI1		inserm.fr	GRCh37	11	103908435	103908435	+	synonymous_variant	Silent	SNP	A	T	T			CHC2206T																					ENST00000302259.3:c.885A>T	p.Thr295=	p.T295=	ENST00000302259	NM_001001711.2	295	acA/acT	0	not done		synonymous	
DDI1		inserm.fr	GRCh37	11	103908639	103908639	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM759T																					ENST00000302259.3:c.1089G>T	p.Glu363Asp	p.E363D	ENST00000302259	NM_001001711.2	363	gaG/gaT	0	validated		probablydamaging	
MKKS		inserm.fr	GRCh37	20	10393513	10393513	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000347364.3:c.650G>A	p.Gly217Glu	p.G217E	ENST00000347364	NM_170784.2	217	gGg/gAg	0	not done		probablydamaging	
SLC9B2		inserm.fr	GRCh37	4	103966103	103966103	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2351T																					ENST00000394785.3:c.940G>A	p.Val314Met	p.V314M	ENST00000394785	NM_178833.4	314	Gtg/Atg	0	not done		benign	
ICAM4		inserm.fr	GRCh37	19	10398703	10398703	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000340992.4:c.662G>T	p.Arg221Leu	p.R221L	ENST00000340992	NM_001039132.2	221	cGc/cTc	0	not done		probablydamaging	
STAB2		inserm.fr	GRCh37	12	103988184	103988184	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCB231T																					ENST00000388887.2:c.227A>T	p.Glu76Val	p.E76V	ENST00000388887	NM_017564.9	76	gAg/gTg	0	validated		benign	
ELOVL3		inserm.fr	GRCh37	10	103988591	103988591	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370005.3:c.395C>T	p.Ala132Val	p.A132V	ENST00000370005	NM_152310.1	132	gCc/gTc	0	not done		benign	
SLC9B2		inserm.fr	GRCh37	4	103988670	103988670	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1186T																					ENST00000394785.3:c.38C>A	p.Ser13Ter	p.S13*	ENST00000394785	NM_178833.4	13	tCa/tAa	0	not done		damaging	
BAG5		inserm.fr	GRCh37	14	104026427	104026427	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000337322.4:c.1198G>A	p.Ala400Thr	p.A400T	ENST00000337322	NM_001015049.2	400	Gct/Act	0	not done		benign	
STAB2		inserm.fr	GRCh37	12	104042489	104042489	+	synonymous_variant	Silent	SNP	C	T	T			CHC1148T																					ENST00000388887.2:c.1062C>T	p.Tyr354=	p.Y354=	ENST00000388887	NM_017564.9	354	taC/taT	0	not done		synonymous	
ICAM5		inserm.fr	GRCh37	19	10405158	10405158	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1035T																					ENST00000221980.4:c.2072C>T	p.Ala691Val	p.A691V	ENST00000221980	NM_003259.3	691	gCc/gTc	0	validated		benign	
STAB2		inserm.fr	GRCh37	12	104056715	104056715	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000388887.2:c.1961C>T	p.Pro654Leu	p.P654L	ENST00000388887	NM_017564.9	654	cCt/cTt	0	not done		probablydamaging	
LPPR1		inserm.fr	GRCh37	9	104071636	104071636	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC912T									Valid												ENST00000374874.3:c.529A>T	p.Asn177Tyr	p.N177Y	ENST00000374874	NM_207299.1	177	Aac/Tac	0	validated		benign	
CENPE		inserm.fr	GRCh37	4	104081937	104081937	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000265148.3:c.2132-1G>A		p.X711_splice	ENST00000265148	NM_001813.2			0	not done		damaging	
MARCH6		inserm.fr	GRCh37	5	10411643	10411643	+	synonymous_variant	Silent	SNP	A	T	T			CHC793T																					ENST00000274140.5:c.1890A>T	p.Pro630=	p.P630=	ENST00000274140	NM_005885.3	630	ccA/ccT	0	validated		synonymous	
MYH1		inserm.fr	GRCh37	17	10412814	10412814	+	synonymous_variant	Silent	SNP	C	T	T			CHC451T																					ENST00000226207.5:c.1575G>A	p.Glu525=	p.E525=	ENST00000226207	NM_005963.3	525	gaG/gaA	0	not done		synonymous	
MYH1		inserm.fr	GRCh37	17	10412853	10412853	+	synonymous_variant	Silent	SNP	C	T	T			CHC2052T																					ENST00000226207.5:c.1536G>A	p.Thr512=	p.T512=	ENST00000226207	NM_005963.3	512	acG/acA	0	not done		synonymous	
ATP2B2		inserm.fr	GRCh37	3	10413520	10413520	+	synonymous_variant	Silent	SNP	G	T	T			CHC884T																					ENST00000360273.2:c.1632C>A	p.Ile544=	p.I544=	ENST00000360273	NM_001001331.2	544	atC/atA	0	validated		synonymous	
STAB2		inserm.fr	GRCh37	12	104156120	104156120	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000388887.2:c.7428C>T	p.Ala2476=	p.A2476=	ENST00000388887	NM_017564.9	2476	gcC/gcT	0	not done		synonymous	
XRCC3		inserm.fr	GRCh37	14	104165277	104165277	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1745T																					ENST00000553264.1:c.899G>A	p.Arg300Gln	p.R300Q	ENST00000553264		300	cGg/cAg	0	not done		probablydamaging	
ZGLP1		inserm.fr	GRCh37	19	10416568	10416568	+	synonymous_variant	Silent	SNP	G	T	T			CHC1053T																					ENST00000403903.3:c.558C>A	p.Ala186=	p.A186=	ENST00000403903	NM_001103167.1	186	gcC/gcA	0	validated		synonymous	
ZNF189		inserm.fr	GRCh37	9	104171610	104171610	+	synonymous_variant	Silent	SNP	C	T	T			CHC1052T																					ENST00000339664.2:c.1560C>T	p.Ser520=	p.S520=	ENST00000339664	NM_001278240.1	520	agC/agT	0	validated		synonymous	
PSD		inserm.fr	GRCh37	10	104172205	104172205	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC805T																					ENST00000020673.5:c.1681C>A	p.Leu561Met	p.L561M	ENST00000020673	NM_001270966.1	561	Ctg/Atg	0	not done		probablydamaging	
PSD		inserm.fr	GRCh37	10	104172229	104172229	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000020673.5:c.1657G>A	p.Ala553Thr	p.A553T	ENST00000020673	NM_001270966.1	553	Gcg/Acg	0	not done		benign	
MYH2		inserm.fr	GRCh37	17	10429112	10429112	+	synonymous_variant	Silent	SNP	C	T	T			CHC303T																					ENST00000245503.5:c.4269G>A	p.Thr1423=	p.T1423=	ENST00000245503	NM_017534.5	1423	acG/acA	0	validated		synonymous	
MYH2		inserm.fr	GRCh37	17	10431185	10431185	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2358T																					ENST00000245503.5:c.3751C>A	p.Leu1251Ile	p.L1251I	ENST00000245503	NM_017534.5	1251	Cta/Ata	0	validated		benign	
RNF20		inserm.fr	GRCh37	9	104314013	104314013	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2098T																					ENST00000389120.3:c.1320G>T	p.Gln440His	p.Q440H	ENST00000389120	NM_019592.6	440	caG/caT	0	not done		probablydamaging	
RAVER1		inserm.fr	GRCh37	19	10431883	10431883	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000293677.6:c.1365G>A	p.Leu455=	p.L455=	ENST00000293677	NM_133452.2	455	ctG/ctA	0	not done		synonymous	
MYH2		inserm.fr	GRCh37	17	10432749	10432749	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000245503.5:c.3167G>A	p.Arg1056Lys	p.R1056K	ENST00000245503	NM_017534.5	1056	aGg/aAg	0	not done		benign	
TDG		inserm.fr	GRCh37	12	104370741	104370741	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2052T																					ENST00000392872.3:c.69A>T	p.Gln23His	p.Q23H	ENST00000392872	NM_003211.4	23	caA/caT	0	not done		benign	
LHFPL3		inserm.fr	GRCh37	7	104377189	104377189	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1040T																					ENST00000535008.1:c.513G>T	p.Met171Ile	p.M171I	ENST00000535008		171	atG/atT	0	not done		probablydamaging	
TDRD9		inserm.fr	GRCh37	14	104394939	104394939	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000409874.4:c.93C>T	p.Ala31=	p.A31=	ENST00000409874	NM_153046.2	31	gcC/gcT	0	not done		synonymous	
TRIM8		inserm.fr	GRCh37	10	104416644	104416644	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1604T																					ENST00000302424.7:c.1189G>T	p.Gly397Cys	p.G397C	ENST00000302424	NM_030912.2	397	Ggc/Tgc	0	not done		possiblydamaging	
MYH2		inserm.fr	GRCh37	17	10442809	10442809	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000245503.5:c.1218G>A	p.Arg406=	p.R406=	ENST00000245503	NM_017534.5	406	agG/agA	0	not done		synonymous	
TDRD9		inserm.fr	GRCh37	14	104429419	104429419	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000409874.4:c.326C>T	p.Pro109Leu	p.P109L	ENST00000409874	NM_153046.2	109	cCa/cTa	0	not done		benign	
GRIN3A		inserm.fr	GRCh37	9	104432718	104432718	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1775T																					ENST00000361820.3:c.1976C>A	p.Thr659Asn	p.T659N	ENST00000361820	NM_133445.2	659	aCc/aAc	0	validated		possiblydamaging	
DCAF13		inserm.fr	GRCh37	8	104439440	104439440	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC736T									Valid												ENST00000297579.5:c.1040G>T	p.Gly347Val	p.G347V	ENST00000297579	NM_015420.6	347	gGa/gTa	0	validated		probablydamaging	
ICAM3		inserm.fr	GRCh37	19	10445993	10445993	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1148T																					ENST00000160262.5:c.686G>A	p.Arg229Gln	p.R229Q	ENST00000160262	NM_002162.3	229	cGg/cAg	0	not done		benign	
TDRD9		inserm.fr	GRCh37	14	104460935	104460935	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC703T																					ENST00000409874.4:c.1315A>T	p.Arg439Ter	p.R439*	ENST00000409874	NM_153046.2	439	Aga/Tga	0	validated		damaging	
TEX13A		inserm.fr	GRCh37	X	104463805	104463805	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1598T																					ENST00000413579.1:c.1071C>A	p.His357Gln	p.H357Q	ENST00000413579		357	caC/caA	0	not done		probablydamaging	
ICAM3		inserm.fr	GRCh37	19	10446549	10446549	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1192T																					ENST00000160262.5:c.447C>A	p.Ser149Arg	p.S149R	ENST00000160262	NM_002162.3	149	agC/agA	0	not done		benign	
MYH2		inserm.fr	GRCh37	17	10447217	10447217	+	splice_donor_variant	Splice_Site	SNP	A	T	T			CHC798T									Valid												ENST00000245503.5:c.648+2T>A		p.X216_splice	ENST00000245503	NM_017534.5			0	validated		damaging	
TYK2		inserm.fr	GRCh37	19	10463772	10463772	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	T	T			CHC301T																					ENST00000525621.1:c.3030C>A	p.Gly1010=	p.G1010=	ENST00000525621	NM_003331.4	1010	ggC/ggA	0	validated		synonymous	
KIF26A		inserm.fr	GRCh37	14	104641380	104641380	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000423312.2:c.2255C>T	p.Pro752Leu	p.P752L	ENST00000423312	NM_015656.1	752	cCg/cTg	0	not done		probablydamaging	
KIF26A		inserm.fr	GRCh37	14	104642701	104642701	+	synonymous_variant	Silent	SNP	C	T	T			BCM735T																					ENST00000423312.2:c.3576C>T	p.Pro1192=	p.P1192=	ENST00000423312	NM_015656.1	1192	ccC/ccT	0	validated		synonymous	
RP1L1		inserm.fr	GRCh37	8	10465566	10465566	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000382483.3:c.6042G>A	p.Glu2014=	p.E2014=	ENST00000382483	NM_178857.5	2014	gaG/gaA	0	not done		synonymous	
MLL5		inserm.fr	GRCh37	7	104681431	104681431	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1085T																					ENST00000311117.3:c.32C>T	p.Thr11Ile	p.T11I	ENST00000311117	NM_182931.2	11	aCa/aTa	0	validated		possiblydamaging	
RP1L1		inserm.fr	GRCh37	8	10470610	10470610	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000382483.3:c.998G>A	p.Gly333Asp	p.G333D	ENST00000382483	NM_178857.5	333	gGc/gAc	0	not done		probablydamaging	
RP1L1		inserm.fr	GRCh37	8	10470702	10470702	+	synonymous_variant	Silent	SNP	C	T	T			CHC1717T																					ENST00000382483.3:c.906G>A	p.Pro302=	p.P302=	ENST00000382483	NM_178857.5	302	ccG/ccA	0	not done		synonymous	
TYK2		inserm.fr	GRCh37	19	10472805	10472805	+	synonymous_variant	Silent	SNP	G	T	T			CHC1154T																					ENST00000525621.1:c.1722C>A	p.Leu574=	p.L574=	ENST00000525621	NM_003331.4	574	ctC/ctA	0	validated		synonymous	
MLL5		inserm.fr	GRCh37	7	104752843	104752843	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM483T									Valid												ENST00000311117.3:c.4640C>T	p.Pro1547Leu	p.P1547L	ENST00000311117	NM_182931.2	1547	cCa/cTa	0	validated		probablydamaging	
TYK2		inserm.fr	GRCh37	19	10475424	10475424	+	synonymous_variant	Silent	SNP	A	T	T			CHC2099T																					ENST00000525621.1:c.1233T>A	p.Ala411=	p.A411=	ENST00000525621	NM_003331.4	411	gcT/gcA	0	not done		synonymous	
CASP4		inserm.fr	GRCh37	11	104821716	104821716	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1717T																					ENST00000444739.2:c.482G>A	p.Gly161Glu	p.G161E	ENST00000444739	NM_001225.3	161	gGg/gAg	0	not done		possiblydamaging	
AMPD3		inserm.fr	GRCh37	11	10483126	10483126	+	synonymous_variant	Silent	SNP	G	T	T			CHC1751T																					ENST00000396554.3:c.87G>T	p.Leu29=	p.L29=	ENST00000396554	NM_000480.2	29	ctG/ctT	0	not done		synonymous	
NT5C2		inserm.fr	GRCh37	10	104860858	104860858	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC1209T																					ENST00000343289.5:c.483G>A	p.Glu161=	p.E161=	ENST00000343289	NM_012229.4	161	gaG/gaA	0	not done		possiblydamaging	
CASP5		inserm.fr	GRCh37	11	104872856	104872856	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1739T																					ENST00000393141.2:c.655C>A	p.Leu219Met	p.L219M	ENST00000393141	NM_004347.3	219	Ctg/Atg	0	not done		probablydamaging	
CASP5		inserm.fr	GRCh37	11	104877853	104877853	+	synonymous_variant	Silent	SNP	G	T	T			CHC1591T																					ENST00000393141.2:c.429C>A	p.Thr143=	p.T143=	ENST00000393141	NM_004347.3	143	acC/acA	0	not done		synonymous	
CASP5		inserm.fr	GRCh37	11	104877874	104877874	+	synonymous_variant	Silent	SNP	G	T	T			BCM545T																					ENST00000393141.2:c.408C>A	p.Arg136=	p.R136=	ENST00000393141	NM_004347.3	136	cgC/cgA	0	validated		synonymous	
CASP1		inserm.fr	GRCh37	11	104902008	104902008	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000533400.1:c.338-1G>A		p.X113_splice	ENST00000533400	NM_001257118.1			0	not done		damaging	
MID1		inserm.fr	GRCh37	X	10491184	10491184	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1763T																					ENST00000317552.4:c.704C>A	p.Thr235Lys	p.T235K	ENST00000317552	NM_033289.1	235	aCa/aAa	0	not done		benign	
CARD17P		inserm.fr	GRCh37	11	104971348	104971348	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM339T																					ENST00000375707.1:c.166G>A	p.Ala56Thr	p.A56T	ENST00000375707	NM_001007232.1	56	Gct/Act	0	validated		benign	
RIMS2		inserm.fr	GRCh37	8	105010415	105010415	+	intron_variant	Intron	SNP	A	T	T			CHC1592T																					ENST00000406091.3:c.3044+8766A>T		*1015*	ENST00000406091	NM_001100117.2			0	not done			
TMEM179		inserm.fr	GRCh37	14	105063398	105063398	+	synonymous_variant	Silent	SNP	G	T	T			CHC1035T																					ENST00000341595.3:c.372C>A	p.Ala124=	p.A124=	ENST00000341595	NM_207379	124	gcC/gcA	0	validated		synonymous	
CDC37		inserm.fr	GRCh37	19	10506847	10506847	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000222005.2:c.135G>A	p.Lys45=	p.K45=	ENST00000222005	NM_007065.3	45	aaG/aaA	0	not done		synonymous	
TMEM179		inserm.fr	GRCh37	14	105070812	105070812	+	synonymous_variant	Silent	SNP	G	T	T			CHC258T																					ENST00000341595.3:c.267C>A	p.Ala89=	p.A89=	ENST00000341595	NM_207379	89	gcC/gcA	0	validated		synonymous	
PCGF6		inserm.fr	GRCh37	10	105073951	105073951	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1545T																					ENST00000369847.3:c.988G>A	p.Ala330Thr	p.A330T	ENST00000369847	NM_001011663.1	330	Gca/Aca	0	not done		probablydamaging	
CORT		inserm.fr	GRCh37	1	10511503	10511503	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1629T																					ENST00000377049.3:c.169A>T	p.Thr57Ser	p.T57S	ENST00000377049	NM_001302.4	57	Acc/Tcc	0	not done		possiblydamaging	
PUS7		inserm.fr	GRCh37	7	105135620	105135620	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000356362.2:c.811G>A	p.Asp271Asn	p.D271N	ENST00000356362	NM_019042.3	271	Gat/Aat	0	not done		possiblydamaging	
PUS7		inserm.fr	GRCh37	7	105143003	105143003	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000356362.2:c.594G>A	p.Glu198=	p.E198=	ENST00000356362	NM_019042.3	198	gaG/gaA	0	not done		synonymous	
PUS7		inserm.fr	GRCh37	7	105148855	105148855	+	synonymous_variant	Silent	SNP	C	T	T			CHC1566T																					ENST00000356362.2:c.105G>A	p.Leu35=	p.L35=	ENST00000356362	NM_019042.3	35	ctG/ctA	0	not done		synonymous	
NRK		inserm.fr	GRCh37	X	105190445	105190445	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000428173.2:c.4345C>T	p.Leu1449=	p.L1449=	ENST00000428173		1449	Ctg/Ttg	0	not done		synonymous	
RINT1		inserm.fr	GRCh37	7	105190731	105190731	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM671T																					ENST00000257700.2:c.1131G>T	p.Met377Ile	p.M377I	ENST00000257700	NM_021930.4	377	atG/atT	0	validated		benign	
CALHM2		inserm.fr	GRCh37	10	105207172	105207172	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000260743.5:c.709G>A	p.Val237Met	p.V237M	ENST00000260743	NM_015916.4	237	Gtg/Atg	0	not done		benign	
AMPD3		inserm.fr	GRCh37	11	10521710	10521710	+	synonymous_variant	Silent	SNP	C	T	T			CHC703T																					ENST00000396554.3:c.1662C>T	p.Asp554=	p.D554=	ENST00000396554	NM_000480.2	554	gaC/gaT	0	not done		synonymous	
SERPINA7		inserm.fr	GRCh37	X	105278370	105278370	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000327674.4:c.900G>A	p.Trp300Ter	p.W300*	ENST00000327674		300	tgG/tgA	0	not done		damaging	
SERPINA7		inserm.fr	GRCh37	X	105279188	105279188	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1715T																					ENST00000327674.4:c.811C>A	p.Leu271Ile	p.L271I	ENST00000327674		271	Ctt/Att	0	not done		probablydamaging	
PDE4A		inserm.fr	GRCh37	19	10531492	10531492	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1736T																					ENST00000352831.6:c.52G>T	p.Gly18Trp	p.G18W	ENST00000352831	NM_001111307.1	18	Ggg/Tgg	0	not done		probablydamaging	
PDE4A		inserm.fr	GRCh37	19	10531751	10531751	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000352831.6:c.311G>T	p.Ser104Ile	p.S104I	ENST00000352831	NM_001111307.1	104	aGc/aTc	0	not done		possiblydamaging	
MID1		inserm.fr	GRCh37	X	10534943	10534943	+	synonymous_variant	Silent	SNP	G	T	T			CHC1626T																					ENST00000317552.4:c.645C>A	p.Arg215=	p.R215=	ENST00000317552	NM_033289.1	215	cgC/cgA	0	not done		synonymous	
CEP170B		inserm.fr	GRCh37	14	105352668	105352668	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1725T																					ENST00000414716.3:c.2092C>T	p.Arg698Trp	p.R698W	ENST00000414716	NM_001112726.2	698	Cgg/Tgg	0	not done		probablydamaging	
DCSTAMP		inserm.fr	GRCh37	8	105360814	105360814	+	synonymous_variant	Silent	SNP	C	T	T			CHC1743T																					ENST00000297581.2:c.34C>T	p.Leu12=	p.L12=	ENST00000297581	NM_030788.3	12	Cta/Tta	0	not done		synonymous	
SH3PXD2A		inserm.fr	GRCh37	10	105362716	105362716	+	synonymous_variant	Silent	SNP	C	T	T			CHC609T																					ENST00000355946.2:c.2175G>A	p.Lys725=	p.K725=	ENST00000355946	NM_014631.2	725	aaG/aaA	0	validated		synonymous	
AHNAK2		inserm.fr	GRCh37	14	105408023	105408023	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1736T																					ENST00000333244.5:c.13765G>A	p.Val4589Met	p.V4589M	ENST00000333244	NM_138420.2	4589	Gtg/Atg	0	not done		probablydamaging	
AHNAK2		inserm.fr	GRCh37	14	105414390	105414390	+	synonymous_variant	Silent	SNP	C	T	T			CHC313T																					ENST00000333244.5:c.7398G>A	p.Glu2466=	p.E2466=	ENST00000333244	NM_138420.2	2466	gaG/gaA	0	validated		synonymous	
AHNAK2		inserm.fr	GRCh37	14	105414671	105414671	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC314T																					ENST00000333244.5:c.7117G>A	p.Ala2373Thr	p.A2373T	ENST00000333244	NM_138420.2	2373	Gct/Act	0	validated		possiblydamaging	
AHNAK2		inserm.fr	GRCh37	14	105417549	105417549	+	synonymous_variant	Silent	SNP	C	T	T			CHC320T																					ENST00000333244.5:c.4239G>A	p.Lys1413=	p.K1413=	ENST00000333244	NM_138420.2	1413	aaG/aaA	0	validated		synonymous	
AHNAK2		inserm.fr	GRCh37	14	105419975	105419975	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC314T																					ENST00000333244.5:c.1813G>A	p.Ala605Thr	p.A605T	ENST00000333244	NM_138420.2	605	Gcc/Acc	0	validated		benign	
CBLB		inserm.fr	GRCh37	3	105421060	105421060	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000264122.4:c.1837G>A	p.Gly613Ser	p.G613S	ENST00000264122	NM_170662.3	613	Ggc/Agc	0	not done		benign	
DPYS		inserm.fr	GRCh37	8	105459564	105459564	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1708T																					ENST00000351513.2:c.591C>A	p.Asp197Glu	p.D197E	ENST00000351513	NM_001385.2	197	gaC/gaA	0	not done		benign	
ALDH1L2		inserm.fr	GRCh37	12	105460350	105460350	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2208T																					ENST00000258494.9:c.692C>A	p.Ala231Asp	p.A231D	ENST00000258494	NM_001034173.3	231	gCt/gAt	0	not done		probablydamaging	
GPR132		inserm.fr	GRCh37	14	105518303	105518303	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000329797.3:c.171G>A	p.Val57=	p.V57=	ENST00000329797	NM_013345.3	57	gtG/gtA	0	not done		synonymous	
GPR132		inserm.fr	GRCh37	14	105518323	105518323	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2099T																					ENST00000329797.3:c.151G>A	p.Ala51Thr	p.A51T	ENST00000329797	NM_013345.3	51	Gcg/Acg	0	not done		benign	
JAG2		inserm.fr	GRCh37	14	105609212	105609212	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000331782.3:c.3537G>A	p.Glu1179=	p.E1179=	ENST00000331782	NM_002226.4	1179	gaG/gaA	0	not done		synonymous	
JAG2		inserm.fr	GRCh37	14	105615543	105615543	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1209T																					ENST00000331782.3:c.1717G>A	p.Val573Met	p.V573M	ENST00000331782	NM_002226.4	573	Gtg/Atg	0	not done		probablydamaging	
JAG2		inserm.fr	GRCh37	14	105617079	105617079	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000331782.3:c.1464G>A	p.Arg488=	p.R488=	ENST00000331782	NM_002226.4	488	cgG/cgA	0	not done		synonymous	
JAG2		inserm.fr	GRCh37	14	105617729	105617729	+	synonymous_variant	Silent	SNP	G	T	T			CHC2128T																					ENST00000331782.3:c.1158C>A	p.Ile386=	p.I386=	ENST00000331782	NM_002226.4	386	atC/atA	0	not done		synonymous	
ABCA7		inserm.fr	GRCh37	19	1056417	1056417	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000263094.6:c.4505G>T	p.Gly1502Val	p.G1502V	ENST00000263094	NM_019112.3	1502	gGc/gTc	0	validated		possiblydamaging	
NUDT14		inserm.fr	GRCh37	14	105643084	105643084	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000392568.2:c.215G>A	p.Arg72His	p.R72H	ENST00000392568	NM_177533.4	72	cGc/cAc	0	validated		probablydamaging	
DMRT2		inserm.fr	GRCh37	9	1056694	1056694	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000382251.3:c.1107C>T	p.Ala369=	p.A369=	ENST00000382251		369	gcC/gcT	0	not done		synonymous	
BRF1		inserm.fr	GRCh37	14	105685548	105685548	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000546474.1:c.1399G>A	p.Ala467Thr	p.A467T	ENST00000546474	NM_001519.3	467	Gcc/Acc	0	not done		probablydamaging	
KLRC3		inserm.fr	GRCh37	12	10569267	10569267	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC1137T																					ENST00000381903.2:c.586G>A	p.Glu196Lys	p.E196K	ENST00000381903	NM_007333.2	196	Gag/Aag	0	not done		possiblydamaging	
SYPL1		inserm.fr	GRCh37	7	105733548	105733548	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000011473.2:c.492G>A	p.Trp164Ter	p.W164*	ENST00000011473	NM_006754.3	164	tgG/tgA	0	not done		damaging	
RP11-127H5.1		inserm.fr	GRCh37	8	105839656	105839656	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000521923.1:c.78C>T	p.Ser26=	p.S26=	ENST00000521923		26	tcC/tcT	0	not done		synonymous	
GCNT2		inserm.fr	GRCh37	6	10586740	10586740	+	intron_variant	Intron	SNP	G	T	T			CHC1154T																					ENST00000379597.3:c.926-34844G>T		*309*	ENST00000379597				0	not done		probablydamaging	
SFR1		inserm.fr	GRCh37	10	105883714	105883714	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM337T																					ENST00000369727.3:c.378A>T	p.Glu126Asp	p.E126D	ENST00000369727	NM_001002759.1	126	gaA/gaT	0	validated		benign	
TGFBRAP1		inserm.fr	GRCh37	2	105897033	105897033	+	synonymous_variant	Silent	SNP	C	T	T			CHC1700T																					ENST00000393359.2:c.1269G>A	p.Lys423=	p.K423=	ENST00000393359		423	aaG/aaA	0	validated		synonymous	
MTA1		inserm.fr	GRCh37	14	105932851	105932851	+	synonymous_variant	Silent	SNP	C	T	T			CHC961T																					ENST00000331320.7:c.1713C>T	p.Val571=	p.V571=	ENST00000331320	NM_004689.3	571	gtC/gtT	0	validated		synonymous	
WDR96		inserm.fr	GRCh37	10	105942138	105942138	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM375T																					ENST00000357060.3:c.2275G>A	p.Asp759Asn	p.D759N	ENST00000357060	NM_025145.5	759	Gat/Aat	0	validated		benign	
WDR96		inserm.fr	GRCh37	10	105944824	105944824	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM545T																					ENST00000357060.3:c.2091C>A	p.Asn697Lys	p.N697K	ENST00000357060	NM_025145.5	697	aaC/aaA	0	validated		benign	
TMEM121		inserm.fr	GRCh37	14	105996119	105996119	+	synonymous_variant	Silent	SNP	C	T	T			CHC1749T																					ENST00000392519.2:c.948C>T	p.Pro316=	p.P316=	ENST00000392519	NM_025268.2	316	ccC/ccT	0	validated		synonymous	
KEAP1		inserm.fr	GRCh37	19	10602442	10602442	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1737T									Valid												ENST00000171111.5:c.1136G>A	p.Gly379Asp	p.G379D	ENST00000171111	NM_203500.1	379	gGc/gAc	0	validated		damaging	
TBC1D8B		inserm.fr	GRCh37	X	106069360	106069360	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC306T									Valid												ENST00000357242.5:c.928C>T	p.Pro310Ser	p.P310S	ENST00000357242	NM_017752.2	310	Cca/Tca	0	validated		possiblydamaging	
ITPRIP		inserm.fr	GRCh37	10	106074605	106074605	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1028T																					ENST00000278071.2:c.1205G>A	p.Gly402Asp	p.G402D	ENST00000278071	NM_033397.3	402	gGc/gAc	0	not done		possiblydamaging	
KEAP1		inserm.fr	GRCh37	19	10610498	10610498	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1616T									Valid												ENST00000171111.5:c.212G>A	p.Arg71Gln	p.R71Q	ENST00000171111	NM_203500.1	71	cGg/cAg	0	not done		probablydamaging	
DAOA		inserm.fr	GRCh37	13	106142363	106142363	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1207T																					ENST00000375936.3:c.395G>T	p.Cys132Phe	p.C132F	ENST00000375936	NM_001161812.1	132	tGc/tTc	0	not done		probablydamaging	
CCDC147		inserm.fr	GRCh37	10	106166448	106166448	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000369704.3:c.2153C>T	p.Ala718Val	p.A718V	ENST00000369704	NM_001008723.1	718	gCc/gTc	0	not done		possiblydamaging	
MORC4		inserm.fr	GRCh37	X	106229337	106229337	+	synonymous_variant	Silent	SNP	C	T	T			CHC1708T																					ENST00000355610.4:c.402G>A	p.Lys134=	p.K134=	ENST00000355610	NM_001085354.2	134	aaG/aaA	0	not done		synonymous	
S1PR5		inserm.fr	GRCh37	19	10624702	10624702	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC205T																					ENST00000439028.3:c.986G>A	p.Gly329Asp	p.G329D	ENST00000439028	NM_001166215.1	329	gGc/gAc	0	validated		benign	
S1PR5		inserm.fr	GRCh37	19	10624986	10624986	+	synonymous_variant	Silent	SNP	C	T	T			CHC1629T																					ENST00000439028.3:c.702G>A	p.Gly234=	p.G234=	ENST00000439028	NM_001166215.1	234	ggG/ggA	0	not done		synonymous	
GCNT6		inserm.fr	GRCh37	6	10634220	10634220	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000417671.1:c.228C>T	p.Cys76=	p.C76=	ENST00000417671		76	tgC/tgT	0	not done		synonymous	
SORCS3		inserm.fr	GRCh37	10	106401140	106401140	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000369701.3:c.55C>T	p.Arg19Trp	p.R19W	ENST00000369701	NM_014978.1	19	Cgg/Tgg	0	not done		benign	
GCNT6		inserm.fr	GRCh37	6	10647415	10647415	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM483T																					ENST00000417671.1:c.1090G>T	p.Ala364Ser	p.A364S	ENST00000417671		364	Gcc/Tcc	0	validated			
GCNT6		inserm.fr	GRCh37	6	10647449	10647449	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1757T																					ENST00000417671.1:c.1124C>T	p.Ser375Phe	p.S375F	ENST00000417671		375	tCt/tTt	0	not done			
PIK3CG		inserm.fr	GRCh37	7	106509066	106509066	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000359195.3:c.1060C>T	p.Leu354=	p.L354=	ENST00000359195	NM_002649.2	354	Ctg/Ttg	0	not done		synonymous	
EIF2S3L		inserm.fr	GRCh37	12	10659896	10659896	+	intron_variant	Intron	SNP	C	T	T			CHC2352T																					ENST00000322446.3:c.1308+87C>T		*436*	ENST00000322446				0	not done		synonymous	
SORCS3		inserm.fr	GRCh37	10	106602594	106602594	+	synonymous_variant	Silent	SNP	C	T	T			CHC1749T																					ENST00000369701.3:c.672C>T	p.Ser224=	p.S224=	ENST00000369701	NM_014978.1	224	agC/agT	0	not done		synonymous	
INTS12		inserm.fr	GRCh37	4	106621142	106621142	+	synonymous_variant	Silent	SNP	C	T	T			CHC703T																					ENST00000451321.2:c.21G>A	p.Leu7=	p.L7=	ENST00000451321	NM_001142471.1	7	ttG/ttA	0	not done		synonymous	
IDI2		inserm.fr	GRCh37	10	1066837	1066837	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC909T																					ENST00000277517.1:c.236G>A	p.Gly79Glu	p.G79E	ENST00000277517	NM_033261.2	79	gGg/gAg	0	not done		probablydamaging	
FRMPD3		inserm.fr	GRCh37	X	106768862	106768862	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000276185.4:c.72C>T	p.Gly24=	p.G24=	ENST00000276185		24	ggC/ggT	0	not done		synonymous	
POLR3B		inserm.fr	GRCh37	12	106786841	106786841	+	synonymous_variant	Silent	SNP	G	T	T			CHC1065T																					ENST00000228347.4:c.756G>T	p.Val252=	p.V252=	ENST00000228347	NM_018082.5	252	gtG/gtT	0	validated		synonymous	
ZFPM2		inserm.fr	GRCh37	8	106813421	106813421	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000407775.2:c.1111G>T	p.Gly371Cys	p.G371C	ENST00000407775	NM_012082.3	371	Ggc/Tgc	0	not done		probablydamaging	
ZFPM2		inserm.fr	GRCh37	8	106814470	106814470	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC155T									Valid												ENST00000407775.2:c.2160G>T	p.Arg720Ser	p.R720S	ENST00000407775	NM_012082.3	720	agG/agT	0	validated		probablydamaging	
FRMPD3		inserm.fr	GRCh37	X	106843991	106843991	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000276185.4:c.2821G>T	p.Ala941Ser	p.A941S	ENST00000276185		941	Gca/Tca	0	not done			
FRMPD3		inserm.fr	GRCh37	X	106844929	106844929	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000276185.4:c.3759C>T	p.Phe1253=	p.F1253=	ENST00000276185		1253	ttC/ttT	0	not done		synonymous	
FRMPD3		inserm.fr	GRCh37	X	106845186	106845186	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB325T																					ENST00000276185.4:c.4016G>T	p.Arg1339Leu	p.R1339L	ENST00000276185		1339	cGg/cTg	0	validated			
SMC2		inserm.fr	GRCh37	9	106862454	106862454	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM711T																					ENST00000286398.7:c.561A>T	p.Lys187Asn	p.K187N	ENST00000286398	NM_006444.2	187	aaA/aaT	0	validated		probablydamaging	
NPNT		inserm.fr	GRCh37	4	106863796	106863796	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC097T																					ENST00000427316.2:c.1186G>T	p.Gly396Ter	p.G396*	ENST00000427316	NM_001184691.1	396	Gga/Tga	0	not done		damaging	
COG5		inserm.fr	GRCh37	7	106877123	106877123	+	synonymous_variant	Silent	SNP	G	T	T			BCM375T																					ENST00000297135.3:c.1956C>A	p.Ser652=	p.S652=	ENST00000297135	NM_006348.3	652	tcC/tcA	0	validated		synonymous	
NPNT		inserm.fr	GRCh37	4	106888458	106888458	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC793T									Valid												ENST00000427316.2:c.1549C>T	p.His517Tyr	p.H517Y	ENST00000427316	NM_001184691.1	517	Cac/Tac	0	validated		probablydamaging	
SMC2		inserm.fr	GRCh37	9	106896777	106896777	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB231T																					ENST00000286398.7:c.3190G>T	p.Val1064Phe	p.V1064F	ENST00000286398	NM_006444.2	1064	Gtt/Ttt	0	validated		benign	
PIEZO2		inserm.fr	GRCh37	18	10699090	10699090	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000503781.3:c.6188G>A	p.Gly2063Asp	p.G2063D	ENST00000503781	NM_022068.2	2063	gGc/gAc	0	not done			
CASZ1		inserm.fr	GRCh37	1	10699616	10699616	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000377022.3:c.4663G>A	p.Ala1555Thr	p.A1555T	ENST00000377022	NM_001079843.2	1555	Gcc/Acc	0	validated		possiblydamaging	
AIM1		inserm.fr	GRCh37	6	107011701	107011701	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000369066.3:c.4977C>T	p.Gly1659=	p.G1659=	ENST00000369066	NM_001624.2	1659	ggC/ggT	0	validated		synonymous	
RGPD3		inserm.fr	GRCh37	2	107039500	107039500	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC433T									Valid												ENST00000409886.3:c.4923G>A	p.Lys1641=	p.K1641=	ENST00000409886	NM_001144013.1	1641	aaG/aaA	0	validated		possiblydamaging	
CASZ1		inserm.fr	GRCh37	1	10706382	10706382	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			BCM483T									Valid												ENST00000377022.3:c.3499G>A	p.Asp1167Asn	p.D1167N	ENST00000377022	NM_001079843.2	1167	Gat/Aat	0	validated		probablydamaging	
RFX4		inserm.fr	GRCh37	12	107078660	107078660	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000357881.4:c.405-2002C>T		*135*	ENST00000357881	NM_001206691.1			0	not done		synonymous	
CCDC54		inserm.fr	GRCh37	3	107097278	107097278	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1725T																					ENST00000261058.1:c.844C>T	p.Leu282Phe	p.L282F	ENST00000261058	NM_032600.2	282	Ctt/Ttt	0	not done		benign	
RFX4		inserm.fr	GRCh37	12	107126817	107126817	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000357881.4:c.1614C>T	p.Ser538=	p.S538=	ENST00000357881	NM_001206691.1	538	tcC/tcT	0	not done		synonymous	
TBCK		inserm.fr	GRCh37	4	107154101	107154101	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1704T																					ENST00000273980.5:c.1633T>A	p.Trp545Arg	p.W545R	ENST00000273980		545	Tgg/Agg	0	not done		probablydamaging	
CWF19L2		inserm.fr	GRCh37	11	107197682	107197682	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM483T									Valid												ENST00000282251.5:c.2639C>A	p.Ala880Asp	p.A880D	ENST00000282251	NM_152434.2	880	gCt/gAt	0	validated		probablydamaging	
TEKT5		inserm.fr	GRCh37	16	10721605	10721605	+	synonymous_variant	Silent	SNP	C	T	T			CHC1751T																					ENST00000283025.2:c.1293G>A	p.Leu431=	p.L431=	ENST00000283025	NM_144674.1	431	ctG/ctA	0	not done		synonymous	
FBXL17		inserm.fr	GRCh37	5	107216758	107216758	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000542267.1:c.1945G>A	p.Gly649Arg	p.G649R	ENST00000542267	NM_001163315.2	649	Ggg/Agg	0	not done		probablydamaging	
TEX13B		inserm.fr	GRCh37	X	107225205	107225205	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000302917.1:c.153G>A	p.Arg51=	p.R51=	ENST00000302917	NM_031273.2	51	agG/agA	0	not done		synonymous	
CWF19L2		inserm.fr	GRCh37	11	107286942	107286942	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000282251.5:c.1610G>A	p.Gly537Glu	p.G537E	ENST00000282251	NM_152434.2	537	gGg/gAg	0	not done		benign	
NOL10		inserm.fr	GRCh37	2	10729183	10729183	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000381685.5:c.1830G>A	p.Lys610=	p.K610=	ENST00000381685	NM_024894.3	610	aaG/aaA	0	not done		synonymous	
SLC26A4		inserm.fr	GRCh37	7	107303837	107303837	+	synonymous_variant	Silent	SNP	C	T	T			CHC2034T																					ENST00000265715.3:c.261C>T	p.Asp87=	p.D87=	ENST00000265715	NM_000441.1	87	gaC/gaT	0	not done		synonymous	
C6orf203		inserm.fr	GRCh37	6	107372396	107372396	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1183T																					ENST00000443043.1:c.694C>T	p.Arg232Trp	p.R232W	ENST00000443043	NM_001142470.1	232	Cgg/Tgg	0	not done		probablydamaging	
ALKBH8		inserm.fr	GRCh37	11	107375608	107375608	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC805T																					ENST00000428149.2:c.1771G>A	p.Asp591Asn	p.D591N	ENST00000428149	NM_138775.2	591	Gat/Aat	0	not done		probablydamaging	
COL4A6		inserm.fr	GRCh37	X	107403722	107403722	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372216.4:c.4499G>A	p.Gly1500Glu	p.G1500E	ENST00000372216	NM_001847.2	1500	gGg/gAg	0	not done		probablydamaging	
SLC26A3		inserm.fr	GRCh37	7	107408299	107408299	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1746T																					ENST00000340010.5:c.2117G>A	p.Ser706Asn	p.S706N	ENST00000340010	NM_000111.2	706	aGc/aAc	0	validated		benign	
COL4A6		inserm.fr	GRCh37	X	107423785	107423785	+	synonymous_variant	Silent	SNP	C	T	T			CHC1725T																					ENST00000372216.4:c.2094G>A	p.Glu698=	p.E698=	ENST00000372216	NM_001847.2	698	gaG/gaA	0	not done		synonymous	
SLC26A3		inserm.fr	GRCh37	7	107431525	107431525	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1211T																					ENST00000340010.5:c.538G>A	p.Ala180Thr	p.A180T	ENST00000340010	NM_000111.2	180	Gca/Aca	0	not done		benign	
ABCA1		inserm.fr	GRCh37	9	107550757	107550757	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000374736.3:c.6019G>A	p.Val2007Met	p.V2007M	ENST00000374736	NM_005502.3	2007	Gtg/Atg	0	not done		benign	
XKR6		inserm.fr	GRCh37	8	10755661	10755661	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1079T																					ENST00000416569.2:c.1727G>A	p.Arg576His	p.R576H	ENST00000416569	NM_173683.3	576	cGt/cAt	0	not done		possiblydamaging	
XKR6		inserm.fr	GRCh37	8	10755786	10755786	+	synonymous_variant	Silent	SNP	A	T	T			CHC1741T																					ENST00000416569.2:c.1602T>A	p.Pro534=	p.P534=	ENST00000416569	NM_173683.3	534	ccT/ccA	0	not done		synonymous	
ABCA1		inserm.fr	GRCh37	9	107593328	107593328	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1602T																					ENST00000374736.3:c.1770G>A	p.Trp590Ter	p.W590*	ENST00000374736	NM_005502.3	590	tgG/tgA	0	not done		damaging	
PIEZO2		inserm.fr	GRCh37	18	10759562	10759562	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000503781.3:c.3600G>A	p.Lys1200=	p.K1200=	ENST00000503781	NM_022068.2	1200	aaG/aaA	0	not done		synonymous	
LAMB1		inserm.fr	GRCh37	7	107613450	107613450	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1742T																					ENST00000222399.6:c.1549G>A	p.Ala517Thr	p.A517T	ENST00000222399	NM_002291.2	517	Gcc/Acc	0	not done		probablydamaging	
LAMB1		inserm.fr	GRCh37	7	107615785	107615785	+	synonymous_variant	Silent	SNP	G	T	T			CHC1602T																					ENST00000222399.6:c.1263C>A	p.Leu421=	p.L421=	ENST00000222399	NM_002291.2	421	ctC/ctA	0	not done		synonymous	
LAMB1		inserm.fr	GRCh37	7	107642082	107642082	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000222399.6:c.134G>A	p.Gly45Asp	p.G45D	ENST00000222399	NM_002291.2	45	gGc/gAc	0	not done		probablydamaging	
LAMB4		inserm.fr	GRCh37	7	107671377	107671377	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000388781.3:c.4866G>A	p.Lys1622=	p.K1622=	ENST00000388781	NM_007356.2	1622	aaG/aaA	0	not done		synonymous	
FBXL17		inserm.fr	GRCh37	5	107716855	107716855	+	synonymous_variant	Silent	SNP	G	T	T			CHC1534T																					ENST00000542267.1:c.538C>A	p.Arg180=	p.R180=	ENST00000542267	NM_001163315.2	180	Cgg/Agg	0	validated		synonymous	
OXR1		inserm.fr	GRCh37	8	107719097	107719097	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC155T																					ENST00000442977.2:c.1351G>T	p.Asp451Tyr	p.D451Y	ENST00000442977	NM_001198532.1	451	Gat/Tat	0	validated		probablydamaging	
CD47		inserm.fr	GRCh37	3	107779700	107779700	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000361309.5:c.491-1G>A		p.X164_splice	ENST00000361309	NM_001777.3			0	not done		damaging	
NRCAM		inserm.fr	GRCh37	7	107816923	107816923	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000379028.3:c.3103G>A	p.Gly1035Arg	p.G1035R	ENST00000379028		1035	Gga/Aga	0	not done		probablydamaging	
STYK1		inserm.fr	GRCh37	12	10782124	10782124	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC614T									Valid												ENST00000075503.3:c.601G>A	p.Asp201Asn	p.D201N	ENST00000075503	NM_018423.2	201	Gac/Aac	0	validated		possiblydamaging	
NALF1		inserm.fr	GRCh37	13	107822873	107822873	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1746T																					ENST00000375915.2:c.1349T>A	p.Leu450Gln	p.L450Q	ENST00000375915	NM_001080396.2	450	cTg/cAg	0	not done		probablydamaging	
COL4A5		inserm.fr	GRCh37	X	107840741	107840741	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM399T									Valid												ENST00000328300.6:c.1722A>T	p.Leu574Phe	p.L574F	ENST00000328300	NM_033380.2	574	ttA/ttT	0	validated		probablydamaging	
DKK2		inserm.fr	GRCh37	4	107845247	107845247	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1745T																					ENST00000285311.3:c.644C>A	p.Thr215Asn	p.T215N	ENST00000285311	NM_014421.2	215	aCc/aAc	0	not done		probablydamaging	
NRCAM		inserm.fr	GRCh37	7	107866703	107866703	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1152T																					ENST00000379028.3:c.670C>A	p.His224Asn	p.H224N	ENST00000379028		224	Cat/Aat	0	not done		probablydamaging	
NRCAM		inserm.fr	GRCh37	7	107871485	107871485	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCM375T									Valid												ENST00000379028.3:c.540G>A	p.Trp180Ter	p.W180*	ENST00000379028		180	tgG/tgA	0	validated		damaging	
IFT57		inserm.fr	GRCh37	3	107910451	107910451	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM723T																					ENST00000264538.3:c.694T>A	p.Ser232Thr	p.S232T	ENST00000264538	NM_018010.3	232	Tcc/Acc	0	validated		benign	
COL4A5		inserm.fr	GRCh37	X	107923924	107923924	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000328300.6:c.3958C>T	p.Pro1320Ser	p.P1320S	ENST00000328300	NM_033380.2	1320	Ccg/Tcg	0	not done		possiblydamaging	
ABTB3		inserm.fr	GRCh37	12	107937888	107937888	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000280758.5:c.1462C>T	p.Pro488Ser	p.P488S	ENST00000280758	NM_001018072.1	488	Cct/Tct	0	not done		probablydamaging	
SOBP		inserm.fr	GRCh37	6	107955987	107955987	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1715T																					ENST00000317357.5:c.1939C>T	p.Gln647Ter	p.Q647*	ENST00000317357	NM_018013.3	647	Cag/Tag	0	not done		damaging	
NTNG1		inserm.fr	GRCh37	1	107963730	107963730	+	intron_variant	Intron	SNP	C	T	T			CHC1725T																					ENST00000370068.1:c.1088-9642C>T		*363*	ENST00000370068				0	not done			
MAK		inserm.fr	GRCh37	6	10796495	10796495	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000313243.2:c.879G>A	p.Ser293=	p.S293=	ENST00000313243		293	tcG/tcA	0	validated		synonymous	
IRS4		inserm.fr	GRCh37	X	107978049	107978049	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372129.2:c.1526G>A	p.Gly509Asp	p.G509D	ENST00000372129	NM_003604.2	509	gGc/gAc	0	not done		probablydamaging	
IRS4		inserm.fr	GRCh37	X	107978820	107978820	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372129.2:c.755G>A	p.Gly252Asp	p.G252D	ENST00000372129	NM_003604.2	252	gGc/gAc	0	not done		probablydamaging	
SCML4		inserm.fr	GRCh37	6	108029179	108029179	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1602T																					ENST00000369020.3:c.1010G>A	p.Arg337Gln	p.R337Q	ENST00000369020	NM_198081.3	337	cGg/cAg	0	not done		benign	
PIEZO2		inserm.fr	GRCh37	18	10803902	10803902	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC891T																					ENST00000503781.3:c.1171G>A	p.Ala391Thr	p.A391T	ENST00000503781	NM_022068.2	391	Gca/Aca	0	not done			
HHLA2		inserm.fr	GRCh37	3	108072520	108072520	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC805T																					ENST00000357759.5:c.311C>T	p.Ala104Val	p.A104V	ENST00000357759	NM_007072.2	104	gCg/gTg	0	not done		probablydamaging	
HHLA2		inserm.fr	GRCh37	3	108074007	108074007	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000357759.5:c.464G>T	p.Ser155Ile	p.S155I	ENST00000357759	NM_007072.2	155	aGc/aTc	0	not done		possiblydamaging	
ATM		inserm.fr	GRCh37	11	108098354	108098354	+	start_lost	Translation_Start_Site	SNP	G	T	T			CHC097T																					ENST00000278616.4:c.3G>T	p.Met1?	p.M1?	ENST00000278616	NM_000051.3	1	atG/atT	0	not done		possiblydamaging	
ATM		inserm.fr	GRCh37	11	108106549	108106549	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCB325T									Valid												ENST00000278616.4:c.484C>T	p.Gln162Ter	p.Q162*	ENST00000278616	NM_000051.3	162	Caa/Taa	0	validated		damaging	
VAV3		inserm.fr	GRCh37	1	108115994	108115994	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			BCM545T																					ENST00000370056.4:c.2503G>A	p.Val835Met	p.V835M	ENST00000370056	NM_006113.4	835	Gtg/Atg	0	validated		possiblydamaging	
ATM		inserm.fr	GRCh37	11	108121643	108121643	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1725T																					ENST00000278616.4:c.1451G>T	p.Trp484Leu	p.W484L	ENST00000278616	NM_000051.3	484	tGg/tTg	0	not done		probablydamaging	
ATM		inserm.fr	GRCh37	11	108127068	108127068	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC891T																					ENST00000278616.4:c.2250+1G>T		p.X750_splice	ENST00000278616	NM_000051.3			0	not done		possiblydamaging	
PRDM4		inserm.fr	GRCh37	12	108145613	108145613	+	synonymous_variant	Silent	SNP	C	T	T			CHC1040T																					ENST00000228437.5:c.705G>A	p.Leu235=	p.L235=	ENST00000228437	NM_012406.3	235	ctG/ctA	0	not done		synonymous	
PNPLA8		inserm.fr	GRCh37	7	108154702	108154702	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000422087.1:c.1092G>A	p.Arg364=	p.R364=	ENST00000422087	NM_015723.3	364	cgG/cgA	0	not done		synonymous	
PNPLA8		inserm.fr	GRCh37	7	108155376	108155376	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1192T																					ENST00000422087.1:c.560G>A	p.Arg187His	p.R187H	ENST00000422087	NM_015723.3	187	cGc/cAc	0	not done		benign	
HMHA1		inserm.fr	GRCh37	19	1081689	1081689	+	synonymous_variant	Silent	SNP	C	T	T			CHC1731T																					ENST00000539243.2:c.2379C>T	p.Ile793=	p.I793=	ENST00000539243	NM_001258328.1	793	atC/atT	0	not done		synonymous	
ASCL4		inserm.fr	GRCh37	12	108169112	108169112	+	synonymous_variant	Silent	SNP	C	T	T			BCM375T																					ENST00000342331.4:c.120C>T	p.Ala40=	p.A40=	ENST00000342331	NM_203436.2	40	gcC/gcT	0	validated		synonymous	
ATM		inserm.fr	GRCh37	11	108199754	108199754	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1736T									Valid												ENST00000278616.4:c.7096G>T	p.Glu2366Ter	p.E2366*	ENST00000278616	NM_000051.3	2366	Gaa/Taa	0	validated		damaging	
SEC63		inserm.fr	GRCh37	6	108202452	108202452	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000369002.4:c.1836G>A	p.Glu612=	p.E612=	ENST00000369002	NM_007214.4	612	gaG/gaA	0	not done		synonymous	
ATM		inserm.fr	GRCh37	11	108203614	108203614	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000278616.4:c.7914G>T	p.Trp2638Cys	p.W2638C	ENST00000278616	NM_000051.3	2638	tgG/tgT	0	not done		probablydamaging	
MYH15		inserm.fr	GRCh37	3	108229408	108229408	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000273353.3:c.30G>A	p.Arg10=	p.R10=	ENST00000273353	NM_014981.1	10	agG/agA	0	not done		synonymous	
QTRT1		inserm.fr	GRCh37	19	10823256	10823256	+	synonymous_variant	Silent	SNP	G	T	T			CHC1545T																					ENST00000250237.5:c.813G>T	p.Val271=	p.V271=	ENST00000250237	NM_031209.2	271	gtG/gtT	0	validated		synonymous	
VAV3		inserm.fr	GRCh37	1	108298086	108298086	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM439T																					ENST00000370056.4:c.1136G>A	p.Arg379His	p.R379H	ENST00000370056	NM_006113.4	379	cGt/cAt	0	validated		probablydamaging	
KDELC2		inserm.fr	GRCh37	11	108350092	108350092	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000323468.5:c.1229G>A	p.Trp410Ter	p.W410*	ENST00000323468	NM_153705.4	410	tGg/tAg	0	not done		damaging	
KDELC2		inserm.fr	GRCh37	11	108369045	108369045	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM689T																					ENST00000323468.5:c.49C>A	p.Leu17Met	p.L17M	ENST00000323468	NM_153705.4	17	Ctg/Atg	0	validated		benign	
SORCS1		inserm.fr	GRCh37	10	108377906	108377906	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000344440.6:c.2920+1G>A		p.X974_splice	ENST00000344440	NM_001206571.1			0	not done		damaging	
EXPH5		inserm.fr	GRCh37	11	108380985	108380985	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265843.4:c.5249G>A	p.Arg1750Lys	p.R1750K	ENST00000265843	NM_015065.2	1750	aGg/aAg	0	not done		benign	
OSTM1		inserm.fr	GRCh37	6	108395557	108395557	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000193322.3:c.299G>A	p.Gly100Glu	p.G100E	ENST00000193322	NM_014028.3	100	gGg/gAg	0	not done		benign	
SORCS1		inserm.fr	GRCh37	10	108448010	108448010	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000344440.6:c.1500C>A	p.Asp500Glu	p.D500E	ENST00000344440	NM_001206571.1	500	gaC/gaA	0	not done		probablydamaging	
SORCS1		inserm.fr	GRCh37	10	108466353	108466353	+	synonymous_variant	Silent	SNP	G	T	T			CHC609T																					ENST00000344440.6:c.1183C>A	p.Arg395=	p.R395=	ENST00000344440	NM_001206571.1	395	Cga/Aga	0	validated		synonymous	
NALF1		inserm.fr	GRCh37	13	108518236	108518236	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375915.2:c.709G>A	p.Gly237Arg	p.G237R	ENST00000375915	NM_001080396.2	237	Ggg/Agg	0	not done		probablydamaging	
PAPSS1		inserm.fr	GRCh37	4	108535518	108535518	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265174.4:c.1762G>A	p.Gly588Arg	p.G588R	ENST00000265174	NM_005443.4	588	Gga/Aga	0	not done		probablydamaging	
PAPSS1		inserm.fr	GRCh37	4	108566069	108566069	+	synonymous_variant	Silent	SNP	C	T	T			CHC2200T																					ENST00000265174.4:c.1395G>A	p.Leu465=	p.L465=	ENST00000265174	NM_005443.4	465	ttG/ttA	0	not done		synonymous	
PAPSS1		inserm.fr	GRCh37	4	108575957	108575957	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265174.4:c.995G>A	p.Gly332Asp	p.G332D	ENST00000265174	NM_005443.4	332	gGc/gAc	0	not done		possiblydamaging	
SLC5A7		inserm.fr	GRCh37	2	108625031	108625031	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC097T																					ENST00000264047.2:c.1006G>T	p.Gly336Cys	p.G336C	ENST00000264047	NM_021815.2	336	Ggt/Tgt	0	not done		probablydamaging	
WSCD2		inserm.fr	GRCh37	12	108642048	108642048	+	synonymous_variant	Silent	SNP	C	T	T			CHC917T																					ENST00000332082.4:c.1626C>T	p.Tyr542=	p.Y542=	ENST00000332082		542	taC/taT	0	validated		synonymous	
GUCY2F		inserm.fr	GRCh37	X	108673580	108673580	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM371T																					ENST00000218006.2:c.1747G>A	p.Asp583Asn	p.D583N	ENST00000218006	NM_001522.2	583	Gac/Aac	0	validated		benign	
PJA2		inserm.fr	GRCh37	5	108679891	108679891	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000361189.2:c.2001G>A	p.Lys667=	p.K667=	ENST00000361189	NM_014819.4	667	aaG/aaA	0	not done		damaging	
PIEZO2		inserm.fr	GRCh37	18	10871406	10871406	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000503781.3:c.337G>A	p.Gly113Arg	p.G113R	ENST00000503781	NM_022068.2	113	Gga/Aga	0	not done			
ZBED5		inserm.fr	GRCh37	11	10875480	10875480	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1183T																					ENST00000432999.2:c.1013G>A	p.Cys338Tyr	p.C338Y	ENST00000432999	NM_021211.3	338	tGt/tAt	0	not done		probablydamaging	
SORCS1		inserm.fr	GRCh37	10	108924203	108924203	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM617T																					ENST00000344440.6:c.82G>A	p.Ala28Thr	p.A28T	ENST00000344440	NM_001206571.1	28	Gcc/Acc	0	validated		probablydamaging	
FOXO3		inserm.fr	GRCh37	6	108985269	108985269	+	synonymous_variant	Silent	SNP	C	T	T			CHC1207T																					ENST00000406360.1:c.1233C>T	p.Ser411=	p.S411=	ENST00000406360	NM_001455.3	411	agC/agT	0	not done		synonymous	
SELPLG		inserm.fr	GRCh37	12	109017648	109017648	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB231T																					ENST00000228463.6:c.484C>A	p.Leu162Met	p.L162M	ENST00000228463	NM_001206609.1	162	Ctg/Atg	0	validated		possiblydamaging	
SYCP2L		inserm.fr	GRCh37	6	10902939	10902939	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1915T																					ENST00000283141.6:c.496C>T	p.Leu166Phe	p.L166F	ENST00000283141	NM_001040274.2	166	Ctt/Ttt	0	validated		benign	
MUC2		inserm.fr	GRCh37	11	1090372	1090372	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000441003.2:c.3668C>T	p.Pro1223Leu	p.P1223L	ENST00000441003	NM_002457.2	1223	cCg/cTg	0	not done		possiblydamaging	
DNM2		inserm.fr	GRCh37	19	10906755	10906755	+	intron_variant	Intron	SNP	G	T	T			CHC902T																					ENST00000389253.4:c.1196+640G>T		*399*	ENST00000389253	NM_001005361.2			0	not done		synonymous	
CORO1C		inserm.fr	GRCh37	12	109094942	109094942	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000261401.3:c.153G>A	p.Glu51=	p.E51=	ENST00000261401	NM_014325.3	51	gaG/gaA	0	not done		synonymous	
GCC2		inserm.fr	GRCh37	2	109098262	109098262	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1044T																					ENST00000309863.6:c.3170C>T	p.Ser1057Leu	p.S1057L	ENST00000309863	NM_181453.3	1057	tCg/tTg	0	not done		benign	
ATP6V1C2		inserm.fr	GRCh37	2	10911967	10911967	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1183T																					ENST00000272238.4:c.473G>T	p.Gly158Val	p.G158V	ENST00000272238	NM_001039362.1	158	gGg/gTg	0	not done		probablydamaging	
EEIG2		inserm.fr	GRCh37	1	109143242	109143242	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000370035.3:c.192C>T	p.Cys64=	p.C64=	ENST00000370035	NM_001010883.2	64	tgC/tgT	0	not done		synonymous	
SSH1		inserm.fr	GRCh37	12	109186151	109186151	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000326495.5:c.1804G>A	p.Gly602Arg	p.G602R	ENST00000326495	NM_018984.3	602	Ggg/Agg	0	not done		benign	
HENMT1		inserm.fr	GRCh37	1	109197349	109197349	+	synonymous_variant	Silent	SNP	C	T	T			CHC1185T																					ENST00000370032.5:c.387G>A	p.Thr129=	p.T129=	ENST00000370032	NM_144584.2	129	acG/acA	0	not done		synonymous	
SSH1		inserm.fr	GRCh37	12	109201524	109201524	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC798T									Valid												ENST00000326495.5:c.616T>A	p.Trp206Arg	p.W206R	ENST00000326495	NM_018984.3	206	Tgg/Agg	0	validated		probablydamaging	
PRPF38B		inserm.fr	GRCh37	1	109235343	109235343	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1568T																					ENST00000370025.4:c.130G>T	p.Gly44Cys	p.G44C	ENST00000370025	NM_018061.2	44	Ggc/Tgc	0	not done		probablydamaging	
SVOP		inserm.fr	GRCh37	12	109306459	109306459	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2034T																					ENST00000299134.5:c.1303T>A	p.Leu435Gln	p.L435Q	ENST00000299134	NM_018711.2	435	cTg/cAg	0	not done		probablydamaging	
SVOP		inserm.fr	GRCh37	12	109311840	109311840	+	synonymous_variant	Silent	SNP	C	T	T			CHC1774T																					ENST00000299134.5:c.1133G>A	p.Ala378=	p.A378=	ENST00000299134	NM_018711.2	378	gcG/gcA	0	validated		synonymous	
STXBP3		inserm.fr	GRCh37	1	109321917	109321917	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC320T									Valid												ENST00000370008.3:c.694C>T	p.His232Tyr	p.H232Y	ENST00000370008	NM_007269.2	232	Cat/Tat	0	validated		benign	
PDIA6		inserm.fr	GRCh37	2	10933254	10933254	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000272227.3:c.421G>A	p.Gly141Arg	p.G141R	ENST00000272227	NM_005742.2	141	Gga/Aga	0	not done		possiblydamaging	
SVOP		inserm.fr	GRCh37	12	109332687	109332687	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000299134.5:c.617G>A	p.Gln206=	p.Q206=	ENST00000299134	NM_018711.2	206	caG/caA	0	not done		synonymous	
AKNAD1		inserm.fr	GRCh37	1	109366200	109366200	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2200T																					ENST00000370001.3:c.2047G>A	p.Glu683Lys	p.E683K	ENST00000370001	NM_152763.4	683	Gaa/Aaa	0	not done		benign	
RANBP2		inserm.fr	GRCh37	2	109382451	109382451	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM397T																					ENST00000283195.6:c.5456C>T	p.Ser1819Leu	p.S1819L	ENST00000283195	NM_006267.4	1819	tCa/tTa	0	validated		benign	
DNM2		inserm.fr	GRCh37	19	10939807	10939807	+	synonymous_variant	Silent	SNP	G	T	T			CHC253T																					ENST00000389253.4:c.2154G>T	p.Arg718=	p.R718=	ENST00000389253	NM_001005361.2	718	cgG/cgT	0	validated		synonymous	
USP30		inserm.fr	GRCh37	12	109520699	109520699	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2358T																					ENST00000257548.5:c.1000G>T	p.Gly334Cys	p.G334C	ENST00000257548	NM_032663.3	334	Ggc/Tgc	0	validated		probablydamaging	
UNG		inserm.fr	GRCh37	12	109541274	109541274	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000242576.2:c.659C>T	p.Ala220Val	p.A220V	ENST00000242576	NM_080911.2	220	gCc/gTc	0	not done		benign	
MYO16		inserm.fr	GRCh37	13	109550462	109550462	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T									Valid												ENST00000356711.2:c.1692G>T	p.Arg564Ser	p.R564S	ENST00000356711	NM_015011.1	564	agG/agT	0	validated		possiblydamaging	
OSTC		inserm.fr	GRCh37	4	109584421	109584421	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000512478.2:c.464G>T	p.Cys155Phe	p.C155F	ENST00000512478	NM_001267818.1	155	tGc/tTc	0	validated			
TAS2R9		inserm.fr	GRCh37	12	10962143	10962143	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM501T																					ENST00000240691.2:c.532T>A	p.Phe178Ile	p.F178I	ENST00000240691	NM_023917.2	178	Ttc/Atc	0	validated		probablydamaging	
ZNF462		inserm.fr	GRCh37	9	109687518	109687518	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000277225.5:c.1325C>T	p.Pro442Leu	p.P442L	ENST00000277225		442	cCc/cTc	0	not done		possiblydamaging	
ZNF462		inserm.fr	GRCh37	9	109690583	109690583	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000277225.5:c.4390G>T	p.Ala1464Ser	p.A1464S	ENST00000277225		1464	Gcc/Tcc	0	not done		possiblydamaging	
TPTE		inserm.fr	GRCh37	21	10970032	10970032	+	synonymous_variant	Silent	SNP	G	T	T			CHC314T																					ENST00000361285.4:c.96C>A	p.Thr32=	p.T32=	ENST00000361285	NM_199261.2	32	acC/acA	0	validated		synonymous	
ACACB		inserm.fr	GRCh37	12	109703054	109703054	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2115T																					ENST00000338432.7:c.7082G>T	p.Arg2361Leu	p.R2361L	ENST00000338432		2361	cGc/cTc	0	not done		possiblydamaging	
KIAA1324		inserm.fr	GRCh37	1	109704598	109704598	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000369939.3:c.236G>T	p.Cys79Phe	p.C79F	ENST00000369939	NM_020775.4	79	tGc/tTc	0	not done		probablydamaging	
FOXN4		inserm.fr	GRCh37	12	109725669	109725669	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1531T																					ENST00000299162.5:c.448C>A	p.Leu150Ile	p.L150I	ENST00000299162	NM_213596.2	150	Ctc/Atc	0	validated		benign	
CTNND2		inserm.fr	GRCh37	5	10973648	10973648	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC434T									Valid												ENST00000304623.8:c.3595G>A	p.Asp1199Asn	p.D1199N	ENST00000304623	NM_001332.2	1199	Gac/Aac	0	validated		probablydamaging	
GPR146		inserm.fr	GRCh37	7	1097369	1097369	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1624T																					ENST00000397095.1:c.218G>T	p.Gly73Val	p.G73V	ENST00000397095		73	gGc/gTc	0	validated		probablydamaging	
GPR146		inserm.fr	GRCh37	7	1097457	1097457	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000397095.1:c.306C>T	p.His102=	p.H102=	ENST00000397095		102	caC/caT	0	validated		synonymous	
MICAL1		inserm.fr	GRCh37	6	109771564	109771564	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC434T									Valid												ENST00000358807.3:c.1130G>A	p.Arg377His	p.R377H	ENST00000358807	NM_022765.3	377	cGt/cAt	0	validated		probablydamaging	
ZBTB24		inserm.fr	GRCh37	6	109787621	109787621	+	synonymous_variant	Silent	SNP	C	T	T			BCM501T																					ENST00000230122.3:c.1527G>A	p.Leu509=	p.L509=	ENST00000230122	NM_014797.2	509	ttG/ttA	0	validated		synonymous	
MUC2		inserm.fr	GRCh37	11	1097886	1097886	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000441003.2:c.6979C>T	p.Pro2327Ser	p.P2327S	ENST00000441003	NM_002457.2	2327	Cca/Tca	0	not done		possiblydamaging	
MYO16		inserm.fr	GRCh37	13	109793479	109793479	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC451T																					ENST00000356711.2:c.4853C>T	p.Pro1618Leu	p.P1618L	ENST00000356711	NM_015011.1	1618	cCa/cTa	0	validated		benign	
TMEM74		inserm.fr	GRCh37	8	109796643	109796643	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000297459.3:c.685G>A	p.Asp229Asn	p.D229N	ENST00000297459	NM_153015.1	229	Gac/Aac	0	not done		probablydamaging	
TMEM74		inserm.fr	GRCh37	8	109796954	109796954	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1152T																					ENST00000297459.3:c.374G>A	p.Arg125Gln	p.R125Q	ENST00000297459	NM_153015.1	125	cGg/cAg	0	not done		benign	
TMEM74		inserm.fr	GRCh37	8	109797322	109797322	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000297459.3:c.6G>A	p.Glu2=	p.E2=	ENST00000297459	NM_153015.1	2	gaG/gaA	0	not done		synonymous	
CELSR2		inserm.fr	GRCh37	1	109810594	109810594	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000271332.3:c.6230C>T	p.Ala2077Val	p.A2077V	ENST00000271332	NM_001408.2	2077	gCc/gTc	0	not done		possiblydamaging	
CELSR2		inserm.fr	GRCh37	1	109813116	109813116	+	synonymous_variant	Silent	SNP	G	T	T			CHC218T																					ENST00000271332.3:c.7377G>T	p.Leu2459=	p.L2459=	ENST00000271332	NM_001408.2	2459	ctG/ctT	0	not done		synonymous	
MYBPHL		inserm.fr	GRCh37	1	109840791	109840791	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000357155.1:c.234G>A	p.Gln78=	p.Q78=	ENST00000357155	NM_001265613.1	78	caG/caA	0	not done		damaging	
MUC2		inserm.fr	GRCh37	11	1098774	1098774	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCB157T																					ENST00000441003.2:c.7144C>T	p.Gln2382Ter	p.Q2382*	ENST00000441003	NM_002457.2	2382	Cag/Tag	0	validated		damaging	
AKD1		inserm.fr	GRCh37	6	109940303	109940303	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC879T																					ENST00000424296.2:c.1391G>A	p.Arg464Lys	p.R464K	ENST00000424296	NM_001145128.2	464	aGa/aAa	0	validated		benign	
UBE3B		inserm.fr	GRCh37	12	109940901	109940901	+	synonymous_variant	Silent	SNP	C	T	T			CHC1763T																					ENST00000342494.3:c.1356C>T	p.Val452=	p.V452=	ENST00000342494	NM_130466.3	452	gtC/gtT	0	not done		synonymous	
SH3RF3		inserm.fr	GRCh37	2	109964331	109964331	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000309415.6:c.775C>T	p.Pro259Ser	p.P259S	ENST00000309415	NM_001099289.1	259	Ccc/Tcc	0	not done		probablydamaging	
MMAB		inserm.fr	GRCh37	12	110002952	110002952	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000545712.2:c.320G>A	p.Gly107Asp	p.G107D	ENST00000545712	NM_052845.3	107	gGc/gAc	0	not done		benign	
SH3RF3		inserm.fr	GRCh37	2	110015263	110015263	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1041T									Valid												ENST00000309415.6:c.1163C>T	p.Thr388Met	p.T388M	ENST00000309415	NM_001099289.1	388	aCg/aTg	0	validated		probablydamaging	
MVK		inserm.fr	GRCh37	12	110034239	110034239	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC218T																					ENST00000228510.3:c.1048C>T	p.Gln350Ter	p.Q350*	ENST00000228510	NM_001114185.1	350	Cag/Tag	0	validated		damaging	
SH3RF3		inserm.fr	GRCh37	2	110049107	110049107	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000309415.6:c.1554C>T	p.Asn518=	p.N518=	ENST00000309415	NM_001099289.1	518	aaC/aaT	0	not done		synonymous	
SH3RF3		inserm.fr	GRCh37	2	110053553	110053553	+	synonymous_variant	Silent	SNP	G	T	T			CHC1616T																					ENST00000309415.6:c.1779G>T	p.Arg593=	p.R593=	ENST00000309415	NM_001099289.1	593	cgG/cgT	0	not done		synonymous	
C1orf127		inserm.fr	GRCh37	1	11007874	11007874	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000377004.4:c.2318G>A	p.Ser773Asn	p.S773N	ENST00000377004	NM_001170754.1	773	aGc/aAc	0	not done		probablydamaging	
GPR61		inserm.fr	GRCh37	1	110086460	110086460	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000527748.1:c.816C>T	p.Pro272=	p.P272=	ENST00000527748	NM_031936.4	272	ccC/ccT	0	not done		synonymous	
SH3RF3		inserm.fr	GRCh37	2	110107197	110107197	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000309415.6:c.2285C>T	p.Pro762Leu	p.P762L	ENST00000309415	NM_001099289.1	762	cCc/cTc	0	not done		benign	
TRHR		inserm.fr	GRCh37	8	110131469	110131469	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000518632.1:c.982C>T	p.Arg328Cys	p.R328C	ENST00000518632		328	Cgt/Tgt	0	not done		probablydamaging	
AMPD2		inserm.fr	GRCh37	1	110163788	110163788	+	synonymous_variant	Silent	SNP	G	T	T			CHC1185T																					ENST00000256578.3:c.153G>T	p.Val51=	p.V51=	ENST00000256578	NM_004037.7	51	gtG/gtT	0	not done		synonymous	
AMPD2		inserm.fr	GRCh37	1	110171421	110171421	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1192T																					ENST00000256578.3:c.1726C>T	p.Arg576Cys	p.R576C	ENST00000256578	NM_004037.7	576	Cgc/Tgc	0	not done		probablydamaging	
TRPV4		inserm.fr	GRCh37	12	110240936	110240936	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000418703.2:c.572G>A	p.Gly191Glu	p.G191E	ENST00000418703	NM_001177431.1	191	gGg/gAg	0	not done		probablydamaging	
TRPV4		inserm.fr	GRCh37	12	110252413	110252413	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000418703.2:c.189G>A	p.Gly63=	p.G63=	ENST00000418703	NM_001177431.1	63	ggG/ggA	0	not done		synonymous	
TRPV4		inserm.fr	GRCh37	12	110252567	110252567	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1186T																					ENST00000418703.2:c.35C>A	p.Pro12His	p.P12H	ENST00000418703	NM_001177431.1	12	cCc/cAc	0	not done		possiblydamaging	
GSTM3		inserm.fr	GRCh37	1	110282531	110282531	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000540225.1:c.49-1G>A		p.X17_splice	ENST00000540225				0	not done		damaging	
EPS8L3		inserm.fr	GRCh37	1	110293295	110293295	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000369805.3:c.1760G>A	p.Arg587Lys	p.R587K	ENST00000369805	NM_139053.2	587	aGa/aAa	0	not done		benign	
GLTP		inserm.fr	GRCh37	12	110295450	110295450	+	synonymous_variant	Silent	SNP	C	T	T			CHC902T																					ENST00000318348.4:c.177G>A	p.Val59=	p.V59=	ENST00000318348	NM_016433.3	59	gtG/gtA	0	not done		synonymous	
EPS8L3		inserm.fr	GRCh37	1	110299738	110299738	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2200T																					ENST00000369805.3:c.1022C>A	p.Pro341His	p.P341H	ENST00000369805	NM_139053.2	341	cCc/cAc	0	not done		probablydamaging	
EPS8L3		inserm.fr	GRCh37	1	110299739	110299739	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2200T																					ENST00000369805.3:c.1021C>A	p.Pro341Thr	p.P341T	ENST00000369805	NM_139053.2	341	Ccc/Acc	0	not done		probablydamaging	
EPS8L3		inserm.fr	GRCh37	1	110300672	110300672	+	synonymous_variant	Silent	SNP	C	T	T			CHC1744T																					ENST00000369805.3:c.729G>A	p.Leu243=	p.L243=	ENST00000369805	NM_139053.2	243	ctG/ctA	0	not done		synonymous	
GPR6		inserm.fr	GRCh37	6	110300909	110300909	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000275169.3:c.594C>T	p.Gly198=	p.G198=	ENST00000275169	NM_005284.3	198	ggC/ggT	0	not done		synonymous	
ENY2		inserm.fr	GRCh37	8	110348407	110348407	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC793T									Valid												ENST00000521688.1:c.57G>T	p.Lys19Asn	p.K19N	ENST00000521688	NM_020189.5	19	aaG/aaT	0	validated		probablydamaging	
ENY2		inserm.fr	GRCh37	8	110352783	110352783	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1756T																					ENST00000521688.1:c.220A>T	p.Lys74Ter	p.K74*	ENST00000521688	NM_020189.5	74	Aaa/Taa	0	not done		damaging	
SEC24B		inserm.fr	GRCh37	4	110355076	110355076	+	synonymous_variant	Silent	SNP	G	T	T			CHC798T																					ENST00000265175.5:c.51G>T	p.Pro17=	p.P17=	ENST00000265175	NM_006323.2	17	ccG/ccT	0	validated		synonymous	
C19orf52		inserm.fr	GRCh37	19	11039715	11039715	+	synonymous_variant	Silent	SNP	G	T	T			BCB231T																					ENST00000270502.6:c.120G>T	p.Arg40=	p.R40=	ENST00000270502	NM_138358.2	40	cgG/cgT	0	validated		synonymous	
MUC2		inserm.fr	GRCh37	11	1104134	1104134	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000441003.2:c.8325C>T	p.Pro2775=	p.P2775=	ENST00000441003	NM_002457.2	2775	ccC/ccT	0	not done		synonymous	
PKHD1L1		inserm.fr	GRCh37	8	110417243	110417243	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1715T																					ENST00000378402.5:c.1553G>T	p.Trp518Leu	p.W518L	ENST00000378402	NM_177531.4	518	tGg/tTg	0	not done		possiblydamaging	
MUC2		inserm.fr	GRCh37	11	1104212	1104212	+	synonymous_variant	Silent	SNP	C	T	T			CHC1152T																					ENST00000441003.2:c.8403C>T	p.Thr2801=	p.T2801=	ENST00000441003	NM_002457.2	2801	acC/acT	0	not done		synonymous	
WDR36		inserm.fr	GRCh37	5	110428002	110428002	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1137T																					ENST00000506538.2:c.16G>T	p.Gly6Cys	p.G6C	ENST00000506538	NM_139281.2	6	Ggc/Tgc	0	not done		possiblydamaging	
IRS2		inserm.fr	GRCh37	13	110435827	110435827	+	synonymous_variant	Silent	SNP	G	T	T			CHC794T																					ENST00000375856.3:c.2574C>A	p.Pro858=	p.P858=	ENST00000375856	NM_003749.2	858	ccC/ccA	0	validated		synonymous	
PAK3		inserm.fr	GRCh37	X	110459760	110459760	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000360648.4:c.1627C>T	p.Arg543Ter	p.R543*	ENST00000360648	NM_001128168.1	543	Cga/Tga	0	not done		damaging	
PKHD1L1		inserm.fr	GRCh37	8	110463366	110463366	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000378402.5:c.6338G>T	p.Gly2113Val	p.G2113V	ENST00000378402	NM_177531.4	2113	gGa/gTa	0	not done		probablydamaging	
CAPN6		inserm.fr	GRCh37	X	110494811	110494811	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000324068.1:c.859G>A	p.Gly287Arg	p.G287R	ENST00000324068	NM_014289.3	287	Gga/Aga	0	not done		probablydamaging	
KCNF1		inserm.fr	GRCh37	2	11053054	11053054	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC303T																					ENST00000295082.1:c.502G>T	p.Val168Phe	p.V168F	ENST00000295082	NM_002236.4	168	Gtc/Ttc	0	validated		benign	
KCNF1		inserm.fr	GRCh37	2	11053253	11053253	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2115T																					ENST00000295082.1:c.701C>T	p.Thr234Ile	p.T234I	ENST00000295082	NM_002236.4	234	aCc/aTc	0	not done		probablydamaging	
GPX4		inserm.fr	GRCh37	19	1105743	1105743	+	synonymous_variant	Silent	SNP	G	T	T			CHC121T																					ENST00000354171.8:c.411G>T	p.Gly137=	p.G137=	ENST00000354171	NM_001039847.1	137	ggG/ggT	0	validated		synonymous	
CCDC109B		inserm.fr	GRCh37	4	110603868	110603868	+	synonymous_variant	Silent	SNP	C	T	T			CHC2112T																					ENST00000394650.4:c.582C>T	p.His194=	p.H194=	ENST00000394650	NM_017918.4	194	caC/caT	0	not done		synonymous	
DDO		inserm.fr	GRCh37	6	110729617	110729617	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000368924.3:c.285G>A	p.Trp95Ter	p.W95*	ENST00000368924	NM_003649.2	95	tgG/tgA	0	not done		damaging	
SLC22A16		inserm.fr	GRCh37	6	110752416	110752416	+	synonymous_variant	Silent	SNP	C	T	T			CHC2103T																					ENST00000368919.3:c.1479G>A	p.Pro493=	p.P493=	ENST00000368919	NM_033125.3	493	ccG/ccA	0	not done		synonymous	
ATP2A2		inserm.fr	GRCh37	12	110778680	110778680	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM269T									Valid												ENST00000539276.2:c.1978C>T	p.Leu660Phe	p.L660F	ENST00000539276		660	Ctc/Ttc	0	validated		possiblydamaging	
ANAPC7		inserm.fr	GRCh37	12	110819730	110819730	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC879T																					ENST00000455511.3:c.1061G>A	p.Arg354His	p.R354H	ENST00000455511	NM_016238.2	354	cGc/cAc	0	not done		probablydamaging	
COL4A1		inserm.fr	GRCh37	13	110830269	110830269	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375820.4:c.2636G>A	p.Gly879Glu	p.G879E	ENST00000375820	NM_001845.4	879	gGa/gAa	0	not done		probablydamaging	
COL4A1		inserm.fr	GRCh37	13	110830456	110830456	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375820.4:c.2581G>A	p.Gly861Ser	p.G861S	ENST00000375820	NM_001845.4	861	Ggc/Agc	0	not done		probablydamaging	
EGF		inserm.fr	GRCh37	4	110834600	110834600	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC923T																					ENST00000265171.5:c.109G>T	p.Gly37Trp	p.G37W	ENST00000265171	NM_001963.4	37	Ggg/Tgg	0	not done		benign	
COL4A1		inserm.fr	GRCh37	13	110845260	110845260	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375820.4:c.1382G>A	p.Gly461Asp	p.G461D	ENST00000375820	NM_001845.4	461	gGt/gAt	0	not done		probablydamaging	
COL4A1		inserm.fr	GRCh37	13	110859836	110859836	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375820.4:c.694G>A	p.Gly232Ser	p.G232S	ENST00000375820	NM_001845.4	232	Ggt/Agt	0	not done		possiblydamaging	
COL4A1		inserm.fr	GRCh37	13	110866155	110866155	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375820.4:c.253G>A	p.Gly85Arg	p.G85R	ENST00000375820	NM_001845.4	85	Gga/Aga	0	not done		probablydamaging	
ARPC3		inserm.fr	GRCh37	12	110883284	110883284	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2098T																					ENST00000228825.7:c.79C>A	p.Gln27Lys	p.Q27K	ENST00000228825	NM_005719.2	27	Caa/Aaa	0	not done		benign	
RBM15		inserm.fr	GRCh37	1	110884144	110884144	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T									Valid												ENST00000369784.3:c.2117G>T	p.Arg706Leu	p.R706L	ENST00000369784	NM_022768.4	706	cGa/cTa	0	validated		possiblydamaging	
EGF		inserm.fr	GRCh37	4	110897234	110897234	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000265171.5:c.1896C>T	p.Gly632=	p.G632=	ENST00000265171	NM_001963.4	632	ggC/ggT	0	not done		synonymous	
NPHP1		inserm.fr	GRCh37	2	110901175	110901175	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000316534.4:c.1641G>A	p.Gln547=	p.Q547=	ENST00000316534		547	caG/caA	0	not done		synonymous	
NPHP1		inserm.fr	GRCh37	2	110917712	110917712	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM711T																					ENST00000316534.4:c.1243G>A	p.Gly415Ser	p.G415S	ENST00000316534		415	Ggt/Agt	0	validated		probablydamaging	
SLC16A4		inserm.fr	GRCh37	1	110918149	110918149	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM229T									Valid												ENST00000369779.4:c.1267G>A	p.Val423Ile	p.V423I	ENST00000369779	NM_001201547.1	423	Gta/Ata	0	validated		possiblydamaging	
SLC16A4		inserm.fr	GRCh37	1	110923671	110923671	+	synonymous_variant	Silent	SNP	A	T	T			CHC2048T																					ENST00000369779.4:c.459T>A	p.Ser153=	p.S153=	ENST00000369779	NM_001201547.1	153	tcT/tcA	0	not done		synonymous	
CDK19		inserm.fr	GRCh37	6	110944058	110944058	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1775T																					ENST00000368911.3:c.991C>A	p.Gln331Lys	p.Q331K	ENST00000368911	NM_015076.3	331	Cag/Aag	0	validated		benign	
ALG13		inserm.fr	GRCh37	X	110973647	110973647	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1600T																					ENST00000394780.3:c.2393A>T	p.Tyr798Phe	p.Y798F	ENST00000394780	NM_001257231.1	798	tAt/tTt	0	not done		probablydamaging	
KCNV1		inserm.fr	GRCh37	8	110986228	110986228	+	synonymous_variant	Silent	SNP	C	T	T			CHC923T																					ENST00000524391.1:c.390G>A	p.Ala130=	p.A130=	ENST00000524391		130	gcG/gcA	0	not done		synonymous	
SMARCA4		inserm.fr	GRCh37	19	11101831	11101831	+	synonymous_variant	Silent	SNP	C	T	T			CHC609T																					ENST00000344626.4:c.1251C>T	p.Arg417=	p.R417=	ENST00000344626	NM_003072.3	417	cgC/cgT	0	validated		synonymous	
ERVFRD-1		inserm.fr	GRCh37	6	11105476	11105476	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1756T																					ENST00000472091.1:c.68C>A	p.Pro23Gln	p.P23Q	ENST00000472091	NM_207582.2	23	cCg/cAg	0	not done		possiblydamaging	
KCNA10		inserm.fr	GRCh37	1	111060811	111060811	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2358T																					ENST00000369771.2:c.599G>A	p.Arg200His	p.R200H	ENST00000369771	NM_005549.2	200	cGt/cAt	0	validated		probablydamaging	
KCNA10		inserm.fr	GRCh37	1	111060811	111060811	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC896T																					ENST00000369771.2:c.599G>A	p.Arg200His	p.R200H	ENST00000369771	NM_005549.2	200	cGt/cAt	0	not done		probablydamaging	
COL4A2		inserm.fr	GRCh37	13	111109759	111109759	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC879T																					ENST00000360467.5:c.1409C>T	p.Ala470Val	p.A470V	ENST00000360467	NM_001846.2	470	gCc/gTc	0	not done		benign	
KCNA2		inserm.fr	GRCh37	1	111145991	111145991	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1061T																					ENST00000485317.1:c.1414T>A	p.Phe472Ile	p.F472I	ENST00000485317		472	Ttt/Att	0	validated		benign	
POU2AF2		inserm.fr	GRCh37	11	111156407	111156407	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000280325.4:c.339C>T	p.Asp113=	p.D113=	ENST00000280325	NM_198498.1	113	gaC/gaT	0	not done		synonymous	
POU2AF2		inserm.fr	GRCh37	11	111156654	111156654	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000280325.4:c.586C>T	p.Pro196Ser	p.P196S	ENST00000280325	NM_198498.1	196	Ccc/Tcc	0	not done		benign	
KCNA3		inserm.fr	GRCh37	1	111216794	111216794	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000369769.2:c.638G>A	p.Arg213His	p.R213H	ENST00000369769	NM_002232.3	213	cGc/cAc	0	not done		benign	
CCDC63		inserm.fr	GRCh37	12	111291242	111291242	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000308208.5:c.43C>T	p.Pro15Ser	p.P15S	ENST00000308208	NM_152591.1	15	Ccc/Tcc	0	not done		benign	
CARS2		inserm.fr	GRCh37	13	111294750	111294750	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC793T																					ENST00000257347.4:c.1535G>A	p.Arg512Gln	p.R512Q	ENST00000257347	NM_024537.2	512	cGg/cAg	0	validated		benign	
ZBED2		inserm.fr	GRCh37	3	111312725	111312725	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000317012.4:c.324G>A	p.Glu108=	p.E108=	ENST00000317012	NM_024508.4	108	gaG/gaA	0	not done		synonymous	
CD96		inserm.fr	GRCh37	3	111356926	111356926	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	T	T			CHC614T									Valid												ENST00000283285.5:c.1436A>T	p.Asp479Val	p.D479V	ENST00000283285	NM_198196.2	479	gAc/gTc	0	validated		possiblydamaging	
BUB1		inserm.fr	GRCh37	2	111411043	111411043	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC361TA																					ENST00000302759.6:c.1934T>A	p.Met645Lys	p.M645K	ENST00000302759	NM_004336.4	645	aTg/aAg	0	validated		benign	
EXOSC10		inserm.fr	GRCh37	1	11147553	11147553	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1738T																					ENST00000376936.4:c.1041T>A	p.Ser347Arg	p.S347R	ENST00000376936	NM_001001998.1	347	agT/agA	0	not done		probablydamaging	
KIAA1919		inserm.fr	GRCh37	6	111587842	111587842	+	synonymous_variant	Silent	SNP	A	T	T			CHC801T																					ENST00000368847.4:c.1077A>T	p.Val359=	p.V359=	ENST00000368847	NM_153369.2	359	gtA/gtT	0	not done		synonymous	
SIK2		inserm.fr	GRCh37	11	111590553	111590553	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1774T																					ENST00000304987.3:c.1321C>T	p.Gln441Ter	p.Q441*	ENST00000304987	NM_015191.1	441	Cag/Tag	0	validated		damaging	
SIK2		inserm.fr	GRCh37	11	111592586	111592586	+	synonymous_variant	Silent	SNP	C	T	T			BCM543T																					ENST00000304987.3:c.1977C>T	p.Ser659=	p.S659=	ENST00000304987	NM_015191.1	659	tcC/tcT	0	validated		synonymous	
EPB41L4A		inserm.fr	GRCh37	5	111594934	111594934	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261486.5:c.787G>A	p.Gly263Arg	p.G263R	ENST00000261486	NM_022140.3	263	Gga/Aga	0	not done		probablydamaging	
ARHGAP6		inserm.fr	GRCh37	X	11162122	11162122	+	synonymous_variant	Silent	SNP	A	T	T			CHC1616T																					ENST00000337414.4:c.2154T>A	p.Ser718=	p.S718=	ENST00000337414	NM_013427.2	718	tcT/tcA	0	not done		synonymous	
PHLDB2		inserm.fr	GRCh37	3	111632324	111632324	+	synonymous_variant	Silent	SNP	C	T	T			CHC1044T																					ENST00000431670.2:c.1494C>T	p.Ala498=	p.A498=	ENST00000431670	NM_001134438.1	498	gcC/gcT	0	not done		synonymous	
XPNPEP1		inserm.fr	GRCh37	10	111643889	111643889	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000502935.1:c.766G>A	p.Gly256Arg	p.G256R	ENST00000502935		256	Gga/Aga	0	not done		probablydamaging	
DRAM2		inserm.fr	GRCh37	1	111660849	111660849	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1746T																					ENST00000286692.4:c.734C>A	p.Thr245Asn	p.T245N	ENST00000286692		245	aCc/aAc	0	not done		probablydamaging	
ZCCHC16		inserm.fr	GRCh37	X	111698069	111698069	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000340433.2:c.113C>T	p.Ala38Val	p.A38V	ENST00000340433	NM_001004308.2	38	gCt/gTt	0	not done		benign	
ZCCHC16		inserm.fr	GRCh37	X	111698773	111698773	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1600T																					ENST00000340433.2:c.817C>T	p.Arg273Cys	p.R273C	ENST00000340433	NM_001004308.2	273	Cgc/Tgc	0	not done		probablydamaging	
LOC100505933		inserm.fr	GRCh37	10	111706982	111706982	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000369655.1:c.295G>A	p.Gly99Ser	p.G99S	ENST00000369655		99	Ggc/Agc	0	not done			
REV3L		inserm.fr	GRCh37	6	111709010	111709010	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000358835.3:c.1054G>A	p.Ala352Thr	p.A352T	ENST00000358835		352	Gcc/Acc	0	not done		probablydamaging	
TAGLN3		inserm.fr	GRCh37	3	111719652	111719652	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000393917.2:c.214C>T	p.Pro72Ser	p.P72S	ENST00000393917	NM_013259.2	72	Cca/Tca	0	not done		benign	
CUX2		inserm.fr	GRCh37	12	111746115	111746115	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC218T																					ENST00000261726.6:c.1136C>T	p.Ser379Phe	p.S379F	ENST00000261726	NM_015267.3	379	tCc/tTc	0	validated		probablydamaging	
CUX2		inserm.fr	GRCh37	12	111748431	111748431	+	synonymous_variant	Silent	SNP	C	T	T			CHC902T																					ENST00000261726.6:c.1845C>T	p.Phe615=	p.F615=	ENST00000261726	NM_015267.3	615	ttC/ttT	0	not done		synonymous	
HSPB2		inserm.fr	GRCh37	11	111783571	111783571	+	synonymous_variant	Silent	SNP	G	T	T			CHC961T																					ENST00000304298.3:c.18G>T	p.Val6=	p.V6=	ENST00000304298	NM_001541.3	6	gtG/gtT	0	validated		synonymous	
HSPB2		inserm.fr	GRCh37	11	111783582	111783582	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T									Valid												ENST00000304298.3:c.29A>T	p.His10Leu	p.H10L	ENST00000304298	NM_001541.3	10	cAc/cTc	0	validated		probablydamaging	
C11orf52		inserm.fr	GRCh37	11	111796849	111796849	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC304T																					ENST00000278601.5:c.298G>T	p.Ala100Ser	p.A100S	ENST00000278601	NM_080659.2	100	Gct/Tct	0	validated		possiblydamaging	
TAS2R31		inserm.fr	GRCh37	12	11183395	11183395	+	synonymous_variant	Silent	SNP	G	T	T			BCM703T																					ENST00000390675.2:c.540C>A	p.Thr180=	p.T180=	ENST00000390675	NM_176885.2	180	acC/acA	0	validated		synonymous	
GCSAM		inserm.fr	GRCh37	3	111842421	111842421	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM275T																					ENST00000484193.1:c.424C>A	p.His142Asn	p.H142N	ENST00000484193		142	Cat/Aat	0	validated		probablydamaging	
TMEM245		inserm.fr	GRCh37	9	111843128	111843128	+	synonymous_variant	Silent	SNP	C	T	T			BCM543T																					ENST00000374586.3:c.1440G>A	p.Leu480=	p.L480=	ENST00000374586	NM_032012.3	480	ctG/ctA	0	validated		synonymous	
TMEM245		inserm.fr	GRCh37	9	111843221	111843221	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			BCM543T																					ENST00000374586.3:c.1347G>A	p.Met449Ile	p.M449I	ENST00000374586	NM_032012.3	449	atG/atA	0	validated		benign	
MTOR		inserm.fr	GRCh37	1	11184690	11184690	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000361445.4:c.6527G>A	p.Gly2176Asp	p.G2176D	ENST00000361445	NM_004958.3	2176	gGc/gAc	0	validated		probablydamaging	
RHBDF1		inserm.fr	GRCh37	16	111849	111849	+	synonymous_variant	Silent	SNP	G	T	T			CHC121T																					ENST00000262316.6:c.1155C>A	p.Arg385=	p.R385=	ENST00000262316	NM_022450.3	385	cgC/cgA	0	validated		synonymous	
CHIA		inserm.fr	GRCh37	1	111854950	111854950	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1616T																					ENST00000369740.1:c.194A>T	p.Glu65Val	p.E65V	ENST00000369740	NM_001258001.1	65	gAg/gTg	0	not done		possiblydamaging	
SH2B3		inserm.fr	GRCh37	12	111856014	111856014	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000341259.2:c.65C>T	p.Ala22Val	p.A22V	ENST00000341259	NM_005475.2	22	gCc/gTc	0	not done		benign	
CHIA		inserm.fr	GRCh37	1	111863060	111863060	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000369740.1:c.1403C>T	p.Thr468Ile	p.T468I	ENST00000369740	NM_001258001.1	468	aCc/aTc	0	not done		benign	
DIXDC1		inserm.fr	GRCh37	11	111866846	111866846	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000440460.2:c.1729C>T	p.Arg577Trp	p.R577W	ENST00000440460	NM_001037954.3	577	Cgg/Tgg	0	validated		probablydamaging	
C9orf5		inserm.fr	GRCh37	9	111882023	111882023	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000374586.3:c.171C>A	p.Thr57=	p.T57=	ENST00000374586	NM_032012.3	57	acC/acA	0	validated		synonymous	
ADD3		inserm.fr	GRCh37	10	111893217	111893217	+	synonymous_variant	Silent	SNP	C	T	T			CHC1732T																					ENST00000356080.4:c.1962C>T	p.Thr654=	p.T654=	ENST00000356080	NM_016824.3	654	acC/acT	0	not done		synonymous	
ATXN2		inserm.fr	GRCh37	12	111926329	111926329	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000377617.3:c.2671G>A	p.Ala891Thr	p.A891T	ENST00000377617	NM_002973.3	891	Gca/Aca	0	not done		possiblydamaging	
ATXN2		inserm.fr	GRCh37	12	111947803	111947803	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000377617.3:c.2237-1G>A		p.X746_splice	ENST00000377617	NM_002973.3			0	not done		damaging	
SBNO2		inserm.fr	GRCh37	19	1119569	1119569	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361757.3:c.1319G>A	p.Gly440Asp	p.G440D	ENST00000361757	NM_014963.2	440	gGc/gAc	0	not done		probablydamaging	
ARHGAP6		inserm.fr	GRCh37	X	11196344	11196344	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1741T																					ENST00000337414.4:c.1505G>A	p.Gly502Asp	p.G502D	ENST00000337414	NM_013427.2	502	gGc/gAc	0	not done		benign	
MXI1		inserm.fr	GRCh37	10	111987965	111987965	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1717T																					ENST00000332674.5:c.293C>T	p.Ala98Val	p.A98V	ENST00000332674	NM_130439.3	98	gCc/gTc	0	not done		probablydamaging	
TTLL10		inserm.fr	GRCh37	1	1120457	1120457	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000379290.1:c.1369C>T	p.Leu457Phe	p.L457F	ENST00000379290		457	Ctc/Ttc	0	not done		probablydamaging	
CD200		inserm.fr	GRCh37	3	112064051	112064051	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000473539.1:c.412C>T	p.Leu138=	p.L138=	ENST00000473539	NM_001004196.2	138	Ctg/Ttg	0	not done		synonymous	
CD200		inserm.fr	GRCh37	3	112066631	112066631	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000473539.1:c.723G>T	p.Val241=	p.V241=	ENST00000473539	NM_001004196.2	241	gtG/gtT	0	not done		synonymous	
PTS		inserm.fr	GRCh37	11	112103916	112103916	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2052T																					ENST00000280362.3:c.274A>T	p.Asn92Tyr	p.N92Y	ENST00000280362	NM_000317.2	92	Aat/Tat	0	not done		probablydamaging	
IFRD1		inserm.fr	GRCh37	7	112108108	112108108	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000403825.3:c.979C>T	p.Arg327Trp	p.R327W	ENST00000403825	NM_001550.3	327	Cgg/Tgg	0	validated		probablydamaging	
APC		inserm.fr	GRCh37	5	112137030	112137030	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1209T									Valid												ENST00000257430.4:c.784G>T	p.Glu262Ter	p.E262*	ENST00000257430	NM_000038.5	262	Gaa/Taa	0	not done		damaging	
PTPN3		inserm.fr	GRCh37	9	112143978	112143978	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC205T									Valid												ENST00000374541.2:c.2618T>A	p.Ile873Asn	p.I873N	ENST00000374541	NM_001145368.1	873	aTt/aAt	0	validated		probablydamaging	
PTPN3		inserm.fr	GRCh37	9	112143980	112143980	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC205T																					ENST00000374541.2:c.2616T>A	p.Asp872Glu	p.D872E	ENST00000374541	NM_001145368.1	872	gaT/gaA	0	validated		benign	
APC		inserm.fr	GRCh37	5	112174765	112174765	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC902T																					ENST00000257430.4:c.3474A>T	p.Arg1158Ser	p.R1158S	ENST00000257430	NM_000038.5	1158	agA/agT	0	not done		benign	
PTPN3		inserm.fr	GRCh37	9	112199189	112199189	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2113T																					ENST00000374541.2:c.649T>A	p.Tyr217Asn	p.Y217N	ENST00000374541	NM_001145368.1	217	Tat/Aat	0	not done		probablydamaging	
ATG3		inserm.fr	GRCh37	3	112277228	112277228	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1148T																					ENST00000283290.5:c.109G>A	p.Glu37Lys	p.E37K	ENST00000283290	NM_022488.4	37	Gaa/Aaa	0	not done		probablydamaging	
CCDC80		inserm.fr	GRCh37	3	112348999	112348999	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1531T																					ENST00000206423.3:c.1996G>A	p.Val666Ile	p.V666I	ENST00000206423	NM_199512.1	666	Gtc/Atc	0	not done		benign	
CCDC80		inserm.fr	GRCh37	3	112357198	112357198	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC892T																					ENST00000206423.3:c.1555C>A	p.Gln519Lys	p.Q519K	ENST00000206423	NM_199512.1	519	Cag/Aag	0	not done		benign	
MCC		inserm.fr	GRCh37	5	112439912	112439912	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1596T									Valid												ENST00000408903.3:c.1168G>A	p.Glu390Lys	p.E390K	ENST00000408903	NM_001085377.1	390	Gag/Aag	0	validated		probablydamaging	
TAS2R43		inserm.fr	GRCh37	12	11244389	11244389	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2098T																					ENST00000531678.1:c.440T>A	p.Ile147Lys	p.I147K	ENST00000531678	NM_176884.2	147	aTa/aAa	0	not done		benign	
LAMA4		inserm.fr	GRCh37	6	112471798	112471798	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000230538.7:c.2088G>A	p.Arg696=	p.R696=	ENST00000230538	NM_001105206.2	696	agG/agA	0	not done		synonymous	
KCND3		inserm.fr	GRCh37	1	112524995	112524995	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000315987.2:c.354G>A	p.Leu118=	p.L118=	ENST00000315987	NM_004980.4	118	ctG/ctA	0	not done		synonymous	
KCND3		inserm.fr	GRCh37	1	112525342	112525342	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000315987.2:c.7G>A	p.Ala3Thr	p.A3T	ENST00000315987	NM_004980.4	3	Gcc/Acc	0	not done		benign	
RBM20		inserm.fr	GRCh37	10	112540923	112540923	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000369519.3:c.556C>T	p.Leu186Phe	p.L186F	ENST00000369519	NM_001134363.1	186	Ctt/Ttt	0	not done		probablydamaging	
HECTD4		inserm.fr	GRCh37	12	112613553	112613553	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC909T																					ENST00000550722.1:c.11143C>A	p.Leu3715Ile	p.L3715I	ENST00000550722	NM_001109662.3	3715	Ctt/Att	0	not done		possiblydamaging	
HECTD4		inserm.fr	GRCh37	12	112622598	112622598	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC898T																					ENST00000550722.1:c.9734G>A	p.Gly3245Asp	p.G3245D	ENST00000550722	NM_001109662.3	3245	gGc/gAc	0	not done		possiblydamaging	
HECTD4		inserm.fr	GRCh37	12	112630992	112630992	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000550722.1:c.8521G>A	p.Ala2841Thr	p.A2841T	ENST00000550722	NM_001109662.3	2841	Gca/Aca	0	not done		probablydamaging	
CD200R1		inserm.fr	GRCh37	3	112647696	112647696	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM483T									Valid												ENST00000308611.3:c.736G>A	p.Gly246Ser	p.G246S	ENST00000308611	NM_138806.3	246	Ggc/Agc	0	validated		probablydamaging	
HECTD4		inserm.fr	GRCh37	12	112650419	112650419	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000550722.1:c.7063G>A	p.Gly2355Arg	p.G2355R	ENST00000550722	NM_001109662.3	2355	Ggg/Agg	0	not done		probablydamaging	
RFPL4B		inserm.fr	GRCh37	6	112671534	112671534	+	synonymous_variant	Silent	SNP	A	T	T			CHC902T																					ENST00000441065.2:c.624A>T	p.Gly208=	p.G208=	ENST00000441065	NM_001013734.2	208	ggA/ggT	0	not done		synonymous	
RFPL4B		inserm.fr	GRCh37	6	112671696	112671696	+	synonymous_variant	Silent	SNP	C	T	T			CHC1744T																					ENST00000441065.2:c.786C>T	p.Cys262=	p.C262=	ENST00000441065	NM_001013734.2	262	tgC/tgT	0	not done		synonymous	
MCC		inserm.fr	GRCh37	5	112676401	112676401	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1616T																					ENST00000408903.3:c.442T>A	p.Trp148Arg	p.W148R	ENST00000408903	NM_001085377.1	148	Tgg/Agg	0	not done		probablydamaging	
HECTD4		inserm.fr	GRCh37	12	112681251	112681251	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000550722.1:c.4426G>A	p.Val1476Met	p.V1476M	ENST00000550722	NM_001109662.3	1476	Gtg/Atg	0	not done		probablydamaging	
HECTD4		inserm.fr	GRCh37	12	112688795	112688795	+	synonymous_variant	Silent	SNP	C	T	T			BCB307T																					ENST00000550722.1:c.3258G>A	p.Leu1086=	p.L1086=	ENST00000550722	NM_001109662.3	1086	ttG/ttA	0	validated		synonymous	
SOX1		inserm.fr	GRCh37	13	112722390	112722390	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1148T																					ENST00000330949.1:c.418G>T	p.Gly140Trp	p.G140W	ENST00000330949	NM_005986.2	140	Ggg/Tgg	0	not done		probablydamaging	
SOX1		inserm.fr	GRCh37	13	112723082	112723082	+	synonymous_variant	Silent	SNP	G	T	T			CHC2029T																					ENST00000330949.1:c.1110G>T	p.Ser370=	p.S370=	ENST00000330949	NM_005986.2	370	tcG/tcT	0	validated		synonymous	
SHOC2		inserm.fr	GRCh37	10	112724631	112724631	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000369452.4:c.515G>T	p.Arg172Leu	p.R172L	ENST00000369452	NM_007373.3	172	cGg/cTg	0	not done		benign	
C3orf17		inserm.fr	GRCh37	3	112730210	112730210	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1725T																					ENST00000314400.5:c.595G>A	p.Glu199Lys	p.E199K	ENST00000314400	NM_015412.3	199	Gag/Aag	0	not done		probablydamaging	
C2orf50		inserm.fr	GRCh37	2	11273520	11273520	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000381585.3:c.60C>T	p.Pro20=	p.P20=	ENST00000381585		20	ccC/ccT	0	not done		synonymous	
ADRA2A		inserm.fr	GRCh37	10	112838216	112838216	+	synonymous_variant	Silent	SNP	C	T	T			BCM423T																					ENST00000280155.2:c.462C>T	p.Ile154=	p.I154=	ENST00000280155	NM_000681.3	154	atC/atT	0	validated		synonymous	
ADRA2A		inserm.fr	GRCh37	10	112838570	112838570	+	synonymous_variant	Silent	SNP	C	T	T			CHC1596T																					ENST00000280155.2:c.816C>T	p.Arg272=	p.R272=	ENST00000280155	NM_000681.3	272	cgC/cgT	0	validated		synonymous	
PALM2AKAP2		inserm.fr	GRCh37	9	112898483	112898483	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC912T																					ENST00000374530.3:c.659C>T	p.Pro220Leu	p.P220L	ENST00000374530	NM_007203.4	220	cCt/cTt	0	validated		possiblydamaging	
YTHDC2		inserm.fr	GRCh37	5	112899187	112899187	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	T	T			CHC609T									Valid												ENST00000161863.4:c.2440A>T	p.Lys814Ter	p.K814*	ENST00000161863	NM_022828.3	814	Aag/Tag	0	validated		damaging	
PTPN11		inserm.fr	GRCh37	12	112924339	112924339	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1185T																					ENST00000351677.2:c.1285C>T	p.Pro429Ser	p.P429S	ENST00000351677	NM_002834.3	429	Ccc/Tcc	0	not done		probablydamaging	
BOC		inserm.fr	GRCh37	3	112989669	112989669	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000495514.1:c.545C>T	p.Ser182Leu	p.S182L	ENST00000495514		182	tCa/tTa	0	not done		probablydamaging	
BOC		inserm.fr	GRCh37	3	112992061	112992061	+	synonymous_variant	Silent	SNP	C	T	T			CHC1211T																					ENST00000495514.1:c.1107C>T	p.Leu369=	p.L369=	ENST00000495514		369	ctC/ctT	0	not done		synonymous	
TXN		inserm.fr	GRCh37	9	113013712	113013712	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000374517.5:c.55G>A	p.Gly19Ser	p.G19S	ENST00000374517	NM_003329.3	19	Ggt/Agt	0	not done		possiblydamaging	
FAM167A		inserm.fr	GRCh37	8	11301687	11301687	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000284486.4:c.234G>A	p.Gly78=	p.G78=	ENST00000284486	NM_053279.2	78	ggG/ggA	0	not done		synonymous	
HRH1		inserm.fr	GRCh37	3	11301729	11301729	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000397056.1:c.1006C>T	p.Gln336Ter	p.Q336*	ENST00000397056	NM_000861.3	336	Cag/Tag	0	not done		damaging	
SPACA7		inserm.fr	GRCh37	13	113052452	113052452	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000283550.3:c.241C>T	p.His81Tyr	p.H81Y	ENST00000283550	NM_145248.4	81	Cat/Tat	0	not done		benign	
NCAM1		inserm.fr	GRCh37	11	113075101	113075101	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1756T																					ENST00000524665.1:c.398A>T	p.Asn133Ile	p.N133I	ENST00000524665	NM_000615.6	133	aAt/aTt	0	not done		benign	
NCAM1		inserm.fr	GRCh37	11	113078641	113078641	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1205T																					ENST00000524665.1:c.1010A>T	p.Asp337Val	p.D337V	ENST00000524665	NM_000615.6	337	gAt/gTt	0	not done		benign	
SPACA7		inserm.fr	GRCh37	13	113088856	113088856	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1061T																					ENST00000283550.3:c.581G>T	p.Ser194Ile	p.S194I	ENST00000283550	NM_145248.4	194	aGt/aTt	0	validated		probablydamaging	
C4orf32		inserm.fr	GRCh37	4	113107855	113107855	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC2110Tbis																					ENST00000309733.5:c.160G>T	p.Glu54Ter	p.E54*	ENST00000309733	NM_152400.2	54	Gaa/Taa	0	not done		damaging	
GPER		inserm.fr	GRCh37	7	1131425	1131425	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2208T																					ENST00000397092.1:c.61C>T	p.Pro21Ser	p.P21S	ENST00000397092	NM_001039966.1	21	Cct/Tct	0	not done		benign	
SPICE1		inserm.fr	GRCh37	3	113172438	113172438	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1545T																					ENST00000295872.4:c.2017G>A	p.Ala673Thr	p.A673T	ENST00000295872	NM_144718.3	673	Gct/Act	0	not done		probablydamaging	
SVEP1		inserm.fr	GRCh37	9	113205985	113205985	+	synonymous_variant	Silent	SNP	C	T	T			CHC303T																					ENST00000401783.2:c.4479G>A	p.Val1493=	p.V1493=	ENST00000401783	NM_153366.3	1493	gtG/gtA	0	validated		synonymous	
SPICE1		inserm.fr	GRCh37	3	113207803	113207803	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000295872.4:c.600G>A	p.Thr200=	p.T200=	ENST00000295872	NM_144718.3	200	acG/acA	0	validated		synonymous	
SPICE1		inserm.fr	GRCh37	3	113212906	113212906	+	synonymous_variant	Silent	SNP	A	T	T			CHC1186T																					ENST00000295872.4:c.375T>A	p.Arg125=	p.R125=	ENST00000295872	NM_144718.3	125	cgT/cgA	0	not done		synonymous	
SVEP1		inserm.fr	GRCh37	9	113228240	113228240	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC794T																					ENST00000401783.2:c.3227C>A	p.Thr1076Asn	p.T1076N	ENST00000401783	NM_153366.3	1076	aCt/aAt	0	validated		probablydamaging	
MOV10		inserm.fr	GRCh37	1	113232636	113232636	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1040T																					ENST00000413052.2:c.752A>T	p.Lys251Met	p.K251M	ENST00000413052	NM_001130079.1	251	aAg/aTg	0	not done		probablydamaging	
TTC12		inserm.fr	GRCh37	11	113239008	113239008	+	downstream_gene_variant	3'Flank	SNP	A	T	T			CHC1600T																								ENST00000529221	NM_017868.3			0	not done		synonymous	
TTL		inserm.fr	GRCh37	2	113258872	113258872	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC432T																					ENST00000233336.6:c.559G>T	p.Glu187Ter	p.E187*	ENST00000233336	NM_153712.4	187	Gag/Tag	0	not done		damaging	
ANKK1		inserm.fr	GRCh37	11	113264433	113264433	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC302T									Valid												ENST00000303941.3:c.416C>T	p.Pro139Leu	p.P139L	ENST00000303941	NM_178510.1	139	cCg/cTg	0	validated		probablydamaging	
ANKK1		inserm.fr	GRCh37	11	113270539	113270539	+	synonymous_variant	Silent	SNP	C	T	T			CHC2052T																					ENST00000303941.3:c.1848C>T	p.His616=	p.H616=	ENST00000303941	NM_178510.1	616	caC/caT	0	not done		synonymous	
TTLL10		inserm.fr	GRCh37	1	1132970	1132970	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000379290.1:c.1765C>T	p.Pro589Ser	p.P589S	ENST00000379290		589	Ccc/Tcc	0	not done		benign	
RPH3A		inserm.fr	GRCh37	12	113303234	113303234	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000389385.4:c.246C>T	p.Arg82=	p.R82=	ENST00000389385	NM_001143854.1	82	cgC/cgT	0	not done		synonymous	
CSMD3		inserm.fr	GRCh37	8	113326261	113326261	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000297405.5:c.7570G>A	p.Val2524Met	p.V2524M	ENST00000297405	NM_198123.1	2524	Gtg/Atg	0	not done		benign	
SVEP1		inserm.fr	GRCh37	9	113341786	113341786	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000401783.2:c.38C>A	p.Ala13Glu	p.A13E	ENST00000401783	NM_153366.3	13	gCg/gAg	0	not done		possiblydamaging	
SIDT1		inserm.fr	GRCh37	3	113342537	113342537	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1744T																					ENST00000264852.4:c.2264C>T	p.Ala755Val	p.A755V	ENST00000264852	NM_017699.2	755	gCt/gTt	0	not done		benign	
TAS2R42		inserm.fr	GRCh37	12	11338993	11338993	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2362T																					ENST00000334266.1:c.551T>A	p.Leu184His	p.L184H	ENST00000334266	NM_181429.1	184	cTt/cAt	0	validated		probablydamaging	
OAS3		inserm.fr	GRCh37	12	113400595	113400595	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC909T																					ENST00000228928.7:c.1972G>T	p.Val658Leu	p.V658L	ENST00000228928	NM_006187.2	658	Gtg/Ttg	0	not done		possiblydamaging	
OAS3		inserm.fr	GRCh37	12	113402112	113402112	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC2141T																					ENST00000228928.7:c.2302C>T	p.Gln768Ter	p.Q768*	ENST00000228928	NM_006187.2	768	Cag/Tag	0	not done		damaging	
OAS3		inserm.fr	GRCh37	12	113407765	113407765	+	splice_acceptor_variant	Splice_Site	SNP	A	T	T			CHC2215T																					ENST00000228928.7:c.3253-2A>T		p.X1085_splice	ENST00000228928	NM_006187.2			0	not done		damaging	
SLC20A1		inserm.fr	GRCh37	2	113417334	113417334	+	synonymous_variant	Silent	SNP	C	T	T			CHC891T																					ENST00000272542.3:c.1602C>T	p.Asp534=	p.D534=	ENST00000272542	NM_005415.4	534	gaC/gaT	0	not done		synonymous	
NEUROG2		inserm.fr	GRCh37	4	113436447	113436447	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000313341.3:c.185G>A	p.Gly62Glu	p.G62E	ENST00000313341	NM_024019.3	62	gGg/gAg	0	not done		benign	
SLC16A1		inserm.fr	GRCh37	1	113464743	113464743	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000538576.1:c.230G>A	p.Ser77Asn	p.S77N	ENST00000538576	NM_001166496.1	77	aGt/aAt	0	not done		probablydamaging	
CTNND2		inserm.fr	GRCh37	5	11346719	11346719	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC917T																					ENST00000304623.8:c.1393G>A	p.Asp465Asn	p.D465N	ENST00000304623	NM_001332.2	465	Gac/Aac	0	validated		probablydamaging	
NT5DC4		inserm.fr	GRCh37	2	113487207	113487207	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000327581.4:c.1174C>T	p.Pro392Ser	p.P392S	ENST00000327581		392	Cca/Tca	0	not done			
DOCK6		inserm.fr	GRCh37	19	11348904	11348904	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1055T									Valid												ENST00000294618.7:c.1720G>A	p.Val574Met	p.V574M	ENST00000294618	NM_020812.3	574	Gtg/Atg	0	validated		possiblydamaging	
CKAP2L		inserm.fr	GRCh37	2	113496492	113496492	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM543T																					ENST00000302450.6:c.2146G>A	p.Glu716Lys	p.E716K	ENST00000302450	NM_152515.3	716	Gaa/Aaa	0	validated		probablydamaging	
ATP6V1A		inserm.fr	GRCh37	3	113503214	113503214	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1736T																					ENST00000273398.3:c.355C>T	p.Pro119Ser	p.P119S	ENST00000273398	NM_001690.3	119	Ccc/Tcc	0	not done		probablydamaging	
ATP11A		inserm.fr	GRCh37	13	113512131	113512131	+	splice_acceptor_variant	Splice_Site	SNP	G	T	T			CHC1603T																					ENST00000487903.1:c.2419-1G>T		p.X807_splice	ENST00000487903				0	not done		possiblydamaging	
MUSK		inserm.fr	GRCh37	9	113530209	113530209	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC432T																					ENST00000374448.4:c.1030C>T	p.Pro344Ser	p.P344S	ENST00000374448	NM_005592.3	344	Cct/Tct	0	not done		possiblydamaging	
DTX1		inserm.fr	GRCh37	12	113533138	113533138	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1743T																					ENST00000257600.3:c.1557G>T	p.Glu519Asp	p.E519D	ENST00000257600	NM_004416.2	519	gaG/gaT	0	not done		benign	
DTX1		inserm.fr	GRCh37	12	113534603	113534603	+	synonymous_variant	Silent	SNP	C	T	T			BCB301T																					ENST00000257600.3:c.1722C>T	p.Thr574=	p.T574=	ENST00000257600	NM_004416.2	574	acC/acT	0	validated		synonymous	
DOCK6		inserm.fr	GRCh37	19	11354337	11354337	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1566T																					ENST00000294618.7:c.1154C>A	p.Thr385Asn	p.T385N	ENST00000294618	NM_020812.3	385	aCc/aAc	0	not done		benign	
RASAL1		inserm.fr	GRCh37	12	113553837	113553837	+	synonymous_variant	Silent	SNP	G	T	T			CHC1556T																					ENST00000546530.1:c.751C>A	p.Arg251=	p.R251=	ENST00000546530	NM_004658.2	251	Cga/Aga	0	not done		synonymous	
RASAL1		inserm.fr	GRCh37	12	113559391	113559391	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000546530.1:c.351G>A	p.Gln117=	p.Q117=	ENST00000546530	NM_004658.2	117	caG/caA	0	not done		synonymous	
CCDC42B		inserm.fr	GRCh37	12	113590621	113590621	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000335621.6:c.196C>T	p.Arg66Cys	p.R66C	ENST00000335621	NM_001144872.1	66	Cgt/Tgt	0	not done		probablydamaging	
DDX54		inserm.fr	GRCh37	12	113600755	113600755	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1209T																					ENST00000314045.7:c.2177G>A	p.Gly726Asp	p.G726D	ENST00000314045	NM_001111322.1	726	gGc/gAc	0	not done		benign	
ZW10		inserm.fr	GRCh37	11	113607410	113607410	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000200135.3:c.2151G>A	p.Val717=	p.V717=	ENST00000200135	NM_004724.3	717	gtG/gtA	0	not done		synonymous	
DDX54		inserm.fr	GRCh37	12	113607695	113607695	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000314045.7:c.1294G>A	p.Ala432Thr	p.A432T	ENST00000314045	NM_001111322.1	432	Gct/Act	0	not done		probablydamaging	
MCF2L		inserm.fr	GRCh37	13	113622839	113622839	+	intron_variant,non_coding_transcript_variant	Intron	SNP	C	T	T			CHC2352T																					ENST00000446789.2:n.206+94G>A		*69*	ENST00000446789				0	not done		possiblydamaging	
LRIG2		inserm.fr	GRCh37	1	113657395	113657395	+	synonymous_variant	Silent	SNP	C	T	T			CHC961T																					ENST00000361127.5:c.2427C>T	p.Val809=	p.V809=	ENST00000361127	NM_014813.1	809	gtC/gtT	0	validated		synonymous	
ZDHHC23		inserm.fr	GRCh37	3	113675353	113675353	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			BCM739T									Valid												ENST00000330212.3:c.1040G>T	p.Ser347Ile	p.S347I	ENST00000330212	NM_173570.3	347	aGc/aTc	0	validated		probablydamaging	
TPCN1		inserm.fr	GRCh37	12	113698197	113698197	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1053T																					ENST00000550785.1:c.353A>T	p.Asp118Val	p.D118V	ENST00000550785	NM_001143819.1	118	gAc/gTc	0	validated		benign	
KCNN2		inserm.fr	GRCh37	5	113698509	113698509	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000512097.3:c.37C>T	p.Pro13Ser	p.P13S	ENST00000512097		13	Ccg/Tcg	0	not done		probablydamaging	
LPAR1		inserm.fr	GRCh37	9	113703841	113703841	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM275T									Valid												ENST00000374431.3:c.653T>A	p.Phe218Tyr	p.F218Y	ENST00000374431	NM_057159.2	218	tTt/tAt	0	validated		probablydamaging	
LPAR1		inserm.fr	GRCh37	9	113704086	113704086	+	synonymous_variant	Silent	SNP	C	T	T			CHC912T																					ENST00000374431.3:c.408G>A	p.Val136=	p.V136=	ENST00000374431	NM_057159.2	136	gtG/gtA	0	validated		synonymous	
USP28		inserm.fr	GRCh37	11	113711338	113711338	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000003302.4:c.516G>A	p.Trp172Ter	p.W172*	ENST00000003302	NM_020886.2	172	tgG/tgA	0	not done		damaging	
ERC1		inserm.fr	GRCh37	12	1137334	1137334	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1186T																					ENST00000397203.2:c.265A>T	p.Met89Leu	p.M89L	ENST00000397203		89	Atg/Ttg	0	not done		probablydamaging	
MCF2L		inserm.fr	GRCh37	13	113736785	113736785	+	synonymous_variant	Silent	SNP	G	T	T			CHC1209T																					ENST00000535094.2:c.1920G>T	p.Leu640=	p.L640=	ENST00000535094	NM_001112732.2	640	ctG/ctT	0	not done		synonymous	
MCF2L		inserm.fr	GRCh37	13	113750975	113750975	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	T	T			CHC1744T																					ENST00000535094.2:c.3292+8C>T		p.X1098_splice	ENST00000535094	NM_001112732.2			0	not done		synonymous	
IL36RN		inserm.fr	GRCh37	2	113818490	113818490	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000393200.2:c.91C>T	p.Leu31=	p.L31=	ENST00000393200	NM_012275.2	31	Ctg/Ttg	0	not done		synonymous	
IL1F10		inserm.fr	GRCh37	2	113832348	113832348	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000393197.2:c.167C>T	p.Pro56Leu	p.P56L	ENST00000393197	NM_032556.5	56	cCc/cTc	0	not done		probablydamaging	
CTNND2		inserm.fr	GRCh37	5	11385103	11385103	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000304623.8:c.851G>A	p.Gly284Asp	p.G284D	ENST00000304623	NM_001332.2	284	gGc/gAc	0	not done		probablydamaging	
HTR3A		inserm.fr	GRCh37	11	113857749	113857749	+	synonymous_variant	Silent	SNP	C	T	T			CHC798T																					ENST00000355556.2:c.1233C>T	p.Thr411=	p.T411=	ENST00000355556	NM_213621.3	411	acC/acT	0	validated		synonymous	
ZBTB16		inserm.fr	GRCh37	11	113934956	113934956	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1738T																					ENST00000335953.4:c.934G>T	p.Ala312Ser	p.A312S	ENST00000335953	NM_006006.4	312	Gct/Tct	0	not done		benign	
CSMD3		inserm.fr	GRCh37	8	113960101	113960101	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM695T																					ENST00000297405.5:c.1426G>A	p.Glu476Lys	p.E476K	ENST00000297405	NM_198123.1	476	Gag/Aag	0	validated		probablydamaging	
PAX8		inserm.fr	GRCh37	2	113999673	113999673	+	synonymous_variant	Silent	SNP	G	T	T			CHC432T																					ENST00000429538.3:c.513C>A	p.Pro171=	p.P171=	ENST00000429538	NM_003466.3	171	ccC/ccA	0	not done		synonymous	
ZBTB20		inserm.fr	GRCh37	3	114069951	114069951	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000474710.1:c.974G>A	p.Gly325Asp	p.G325D	ENST00000474710	NM_001164342.1	325	gGc/gAc	0	not done		probablydamaging	
ZBTB20		inserm.fr	GRCh37	3	114099190	114099190	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000474710.1:c.73G>A	p.Gly25Ser	p.G25S	ENST00000474710	NM_001164342.1	25	Ggt/Agt	0	not done		benign	
KIAA0368		inserm.fr	GRCh37	9	114128579	114128579	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC303T																					ENST00000259335.4:c.5782G>A	p.Asp1928Asn	p.D1928N	ENST00000259335	NM_001080398.1	1928	Gat/Aat	0	validated		probablydamaging	
HTR2C		inserm.fr	GRCh37	X	114141384	114141384	+	synonymous_variant	Silent	SNP	G	T	T			CHC1751T																					ENST00000276198.1:c.783G>T	p.Leu261=	p.L261=	ENST00000276198	NM_000868.2	261	ctG/ctT	0	not done		synonymous	
KIAA0368		inserm.fr	GRCh37	9	114154064	114154064	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1186T																					ENST00000259335.4:c.3667G>A	p.Gly1223Arg	p.G1223R	ENST00000259335	NM_001080398.1	1223	Ggg/Agg	0	not done		probablydamaging	
MAGI3		inserm.fr	GRCh37	1	114165461	114165461	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1743T																					ENST00000307546.9:c.1205C>T	p.Ser402Phe	p.S402F	ENST00000307546	NM_001142782.1	402	tCc/tTc	0	not done		probablydamaging	
HDAC2		inserm.fr	GRCh37	6	114265551	114265551	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1211T																					ENST00000519065.1:c.1115G>A	p.Arg372His	p.R372H	ENST00000519065		372	cGc/cAc	0	not done		probablydamaging	
FOXP2		inserm.fr	GRCh37	7	114282656	114282656	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM671T																					ENST00000408937.3:c.1042G>T	p.Val348Phe	p.V348F	ENST00000408937	NM_014491.3	348	Gtt/Ttt	0	validated		benign	
FOXP2		inserm.fr	GRCh37	7	114293985	114293985	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC307T																					ENST00000408937.3:c.1262C>T	p.Ser421Phe	p.S421F	ENST00000408937	NM_014491.3	421	tCt/tTt	0	validated		probablydamaging	
ZNF483		inserm.fr	GRCh37	9	114304923	114304923	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000309235.5:c.1708C>T	p.Gln570Ter	p.Q570*	ENST00000309235	NM_133464.2	570	Cag/Tag	0	not done		damaging	
RSBN1		inserm.fr	GRCh37	1	114340304	114340304	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC314T									Valid												ENST00000261441.5:c.1058G>A	p.Gly353Asp	p.G353D	ENST00000261441	NM_018364.3	353	gGt/gAt	0	validated		probablydamaging	
PTPN22		inserm.fr	GRCh37	1	114380805	114380805	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000359785.5:c.1217G>A	p.Gly406Glu	p.G406E	ENST00000359785	NM_015967.5	406	gGg/gAg	0	not done		probablydamaging	
CSMD3		inserm.fr	GRCh37	8	114389004	114389004	+	non_coding_transcript_exon_variant	RNA	SNP	G	T	T			CHC798T									Valid												ENST00000422478.3:n.107G>T		*36*	ENST00000422478				0	validated		damaging	
PTPN22		inserm.fr	GRCh37	1	114414205	114414205	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000359785.5:c.41C>A	p.Ala14Asp	p.A14D	ENST00000359785	NM_015967.5	14	gCc/gAc	0	not done		possiblydamaging	
BCL2L15		inserm.fr	GRCh37	1	114423749	114423749	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1055T									Valid												ENST00000393316.3:c.488G>A	p.Ser163Asn	p.S163N	ENST00000393316	NM_001010922.2	163	aGc/aAc	0	validated		probablydamaging	
RBMXL3		inserm.fr	GRCh37	X	114424405	114424405	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC889T																					ENST00000424776.3:c.401C>T	p.Ala134Val	p.A134V	ENST00000424776	NM_001145346.1	134	gCg/gTg	0	not done		probablydamaging	
RBMXL3		inserm.fr	GRCh37	X	114424452	114424452	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2351T																					ENST00000424776.3:c.448C>T	p.Arg150Cys	p.R150C	ENST00000424776	NM_001145346.1	150	Cgc/Tgc	0	not done		benign	
RBMXL3		inserm.fr	GRCh37	X	114427033	114427033	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM703T																					ENST00000424776.3:c.3029G>T	p.Arg1010Leu	p.R1010L	ENST00000424776	NM_001145346.1	1010	cGc/cTc	0	validated		probablydamaging	
AP4B1		inserm.fr	GRCh37	1	114438885	114438885	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000369569.1:c.1505G>A	p.Cys502Tyr	p.C502Y	ENST00000369569	NM_001253852.1	502	tGc/tAc	0	not done		probablydamaging	
DCLRE1B		inserm.fr	GRCh37	1	114449718	114449718	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000369563.3:c.290C>T	p.Ala97Val	p.A97V	ENST00000369563	NM_022836.3	97	gCc/gTc	0	not done		probablydamaging	
FAM55D		inserm.fr	GRCh37	11	114453744	114453744	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC2111T																					ENST00000375478.3:c.97-1G>A		p.X33_splice	ENST00000375478	NM_001077639.1			0	not done		damaging	
DCLRE1B		inserm.fr	GRCh37	1	114453990	114453990	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC306T									Valid												ENST00000369563.3:c.776G>T	p.Arg259Leu	p.R259L	ENST00000369563	NM_022836.3	259	cGa/cTa	0	validated		possiblydamaging	
TRIM36		inserm.fr	GRCh37	5	114466308	114466308	+	synonymous_variant	Silent	SNP	G	T	T			CHC1211T																					ENST00000282369.3:c.1813C>A	p.Arg605=	p.R605=	ENST00000282369	NM_018700.3	605	Cgg/Agg	0	not done		synonymous	
HIPK1		inserm.fr	GRCh37	1	114508873	114508873	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC433T																					ENST00000369558.1:c.2360G>T	p.Gly787Val	p.G787V	ENST00000369558		787	gGa/gTa	0	validated		benign	
LUZP4		inserm.fr	GRCh37	X	114540801	114540801	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1041T																					ENST00000371920.3:c.374C>T	p.Ala125Val	p.A125V	ENST00000371920	NM_016383.3	125	gCa/gTa	0	validated		benign	
SYT6		inserm.fr	GRCh37	1	114680675	114680675	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC218T																					ENST00000609117.1:c.258G>A	p.Arg86=	p.R86=	ENST00000609117		86	agG/agA	0	validated		possiblydamaging	
UGCG		inserm.fr	GRCh37	9	114695227	114695227	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1756T																					ENST00000374279.3:c.1135C>T	p.Arg379Cys	p.R379C	ENST00000374279	NM_003358.1	379	Cgc/Tgc	0	not done		probablydamaging	
RASA3		inserm.fr	GRCh37	13	114793367	114793367	+	synonymous_variant	Silent	SNP	C	T	T			CHC1568T																					ENST00000334062.7:c.486G>A	p.Gly162=	p.G162=	ENST00000334062	NM_007368.2	162	ggG/ggA	0	not done		synonymous	
SUSD1		inserm.fr	GRCh37	9	114840823	114840823	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2111T																					ENST00000374270.3:c.1748T>A	p.Ile583Lys	p.I583K	ENST00000374270	NM_022486.3	583	aTa/aAa	0	not done		possiblydamaging	
TBX5		inserm.fr	GRCh37	12	114841603	114841603	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1209T																					ENST00000310346.4:c.101C>A	p.Ala34Asp	p.A34D	ENST00000310346	NM_000192.3	34	gCc/gAc	0	not done		benign	
TCF7L2		inserm.fr	GRCh37	10	114911545	114911545	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2110Tbis																					ENST00000543371.1:c.1063A>T	p.Asn355Tyr	p.N355Y	ENST00000543371	NM_001198531.1	355	Aat/Tat	0	not done		probablydamaging	
UPF3A		inserm.fr	GRCh37	13	115047163	115047163	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1763T																					ENST00000375299.3:c.49G>T	p.Ala17Ser	p.A17S	ENST00000375299	NM_023011.3	17	Gcg/Tcg	0	validated		possiblydamaging	
CADM1		inserm.fr	GRCh37	11	115047235	115047235	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000452722.3:c.1288G>A	p.Gly430Arg	p.G430R	ENST00000452722	NM_014333.3	430	Gga/Aga	0	not done		probablydamaging	
UPF3A		inserm.fr	GRCh37	13	115067358	115067358	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2351T																					ENST00000375299.3:c.1160G>T	p.Arg387Ile	p.R387I	ENST00000375299	NM_023011.3	387	aGa/aTa	0	not done		possiblydamaging	
DNAH9		inserm.fr	GRCh37	17	11511479	11511479	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC798T																					ENST00000262442.4:c.451C>T	p.Arg151Cys	p.R151C	ENST00000262442	NM_001372.3	151	Cgc/Tgc	0	validated		benign	
TBX3		inserm.fr	GRCh37	12	115117740	115117740	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000257566.3:c.695G>A	p.Gly232Glu	p.G232E	ENST00000257566	NM_016569.3	232	gGg/gAg	0	not done		benign	
RGL3		inserm.fr	GRCh37	19	11517424	11517424	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000393423.3:c.754G>A	p.Ala252Thr	p.A252T	ENST00000393423		252	Gcc/Acc	0	not done		probablydamaging	
SDF4		inserm.fr	GRCh37	1	1153167	1153167	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000360001.6:c.913-99G>A		*305*	ENST00000360001				0	not done		synonymous	
DNAH9		inserm.fr	GRCh37	17	11532787	11532787	+	synonymous_variant	Silent	SNP	C	T	T			CHC1192T																					ENST00000262442.4:c.1404C>T	p.Ser468=	p.S468=	ENST00000262442	NM_001372.3	468	agC/agT	0	not done		synonymous	
DNAH9		inserm.fr	GRCh37	17	11535998	11535998	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC302T																					ENST00000262442.4:c.1613C>T	p.Pro538Leu	p.P538L	ENST00000262442	NM_001372.3	538	cCt/cTt	0	validated		benign	
NRAP		inserm.fr	GRCh37	10	115380366	115380366	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2362T																					ENST00000359988.3:c.2871C>A	p.Ser957Arg	p.S957R	ENST00000359988	NM_001261463.1	957	agC/agA	0	validated		probablydamaging	
NRAP		inserm.fr	GRCh37	10	115385806	115385806	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC1715T																					ENST00000359988.3:c.2244G>A	p.Gly748=	p.G748=	ENST00000359988	NM_001261463.1	748	ggG/ggA	0	not done		possiblydamaging	
ARL14EPL		inserm.fr	GRCh37	5	115394517	115394517	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000600981.3:c.312C>T	p.Pro105Leu	p.P105L	ENST00000600981		105	cCa/cTa	0	not done			
LOC400499		inserm.fr	GRCh37	16	11540703	11540703	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000598234.1:c.4545G>A	p.Arg1515=	p.R1515=	ENST00000598234		1515	agG/agA	0	not done		synonymous	
PLEKHS1		inserm.fr	GRCh37	10	115534686	115534686	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000369310.3:c.863G>T	p.Gly288Val	p.G288V	ENST00000369310	NM_182601.1	288	gGc/gTc	0	not done		possiblydamaging	
PLEKHS1		inserm.fr	GRCh37	10	115537287	115537287	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC469T																					ENST00000369310.3:c.1286A>T	p.Glu429Val	p.E429V	ENST00000369310	NM_182601.1	429	gAa/gTa	0	validated			
SLC6A14		inserm.fr	GRCh37	X	115588936	115588936	+	synonymous_variant	Silent	SNP	C	T	T			BCM567T																					ENST00000371900.4:c.1776C>T	p.Ile592=	p.I592=	ENST00000371900	NM_007231.3	592	atC/atT	0	validated		synonymous	
DCLRE1A		inserm.fr	GRCh37	10	115596931	115596931	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2098T																					ENST00000361384.2:c.2852G>A	p.Gly951Glu	p.G951E	ENST00000361384	NM_014881.4	951	gGg/gAg	0	not done		benign	
ELAVL3		inserm.fr	GRCh37	19	11565672	11565672	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000359227.3:c.773G>A	p.Arg258Lys	p.R258K	ENST00000359227	NM_001420.3	258	aGg/aAg	0	not done		benign	
ZNF883		inserm.fr	GRCh37	9	115759689	115759689	+	non_coding_transcript_exon_variant	RNA	SNP	A	T	T			CHC1154T																					ENST00000427548.1:n.2125T>A		*709*	ENST00000427548				0	not done		benign	
SEMA6A		inserm.fr	GRCh37	5	115782408	115782408	+	synonymous_variant	Silent	SNP	C	T	T			CHC909T																					ENST00000343348.6:c.2994G>A	p.Ser998=	p.S998=	ENST00000343348	NM_020796.3	998	tcG/tcA	0	not done		synonymous	
ADRB1		inserm.fr	GRCh37	10	115805074	115805074	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000369295.2:c.1183C>T	p.Arg395Cys	p.R395C	ENST00000369295	NM_000684.2	395	Cgc/Tgc	0	validated		probablydamaging	
SEMA6A		inserm.fr	GRCh37	5	115823863	115823863	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000343348.6:c.685G>A	p.Gly229Arg	p.G229R	ENST00000343348	NM_020796.3	229	Gga/Aga	0	validated		probablydamaging	
NDST4		inserm.fr	GRCh37	4	115891588	115891588	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC322T																					ENST00000264363.2:c.1219C>A	p.Leu407Met	p.L407M	ENST00000264363	NM_022569.1	407	Ctg/Atg	0	validated		benign	
NDST4		inserm.fr	GRCh37	4	115891662	115891662	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000264363.2:c.1145G>A	p.Ser382Asn	p.S382N	ENST00000264363	NM_022569.1	382	aGc/aAc	0	not done		benign	
PTCHD2		inserm.fr	GRCh37	1	11595650	11595650	+	synonymous_variant	Silent	SNP	G	T	T			BCM617T																					ENST00000294484.6:c.3765G>T	p.Leu1255=	p.L1255=	ENST00000294484	NM_020780.1	1255	ctG/ctT	0	validated		synonymous	
FKBP15		inserm.fr	GRCh37	9	115959336	115959336	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000238256.3:c.740G>A	p.Gly247Asp	p.G247D	ENST00000238256	NM_015258.1	247	gGc/gAc	0	not done		probablydamaging	
FKBP15		inserm.fr	GRCh37	9	115983494	115983494	+	synonymous_variant	Silent	SNP	G	T	T			CHC302T																					ENST00000238256.3:c.30C>A	p.Thr10=	p.T10=	ENST00000238256	NM_015258.1	10	acC/acA	0	validated		synonymous	
NDST4		inserm.fr	GRCh37	4	115997596	115997596	+	synonymous_variant	Silent	SNP	A	T	T			CHC2128T																					ENST00000264363.2:c.597T>A	p.Ser199=	p.S199=	ENST00000264363	NM_022569.1	199	tcT/tcA	0	not done		synonymous	
AFAP1L2		inserm.fr	GRCh37	10	116060206	116060206	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1746T																					ENST00000304129.4:c.1786C>A	p.Gln596Lys	p.Q596K	ENST00000304129	NM_001287824.1	596	Cag/Aag	0	not done		benign	
CAV2		inserm.fr	GRCh37	7	116139943	116139943	+	synonymous_variant	Silent	SNP	G	T	T			CHC258T																					ENST00000222693.4:c.108G>T	p.Ser36=	p.S36=	ENST00000222693	NM_001206747.1	36	tcG/tcT	0	validated		synonymous	
C8orf49		inserm.fr	GRCh37	8	11619523	11619523	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1568T																					ENST00000525043.2:c.601A>T	p.Met201Leu	p.M201L	ENST00000525043		201	Atg/Ttg	0	not done			
CASQ2		inserm.fr	GRCh37	1	116275572	116275572	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261448.5:c.556G>A	p.Ala186Thr	p.A186T	ENST00000261448	NM_001232.3	186	Gct/Act	0	not done		probablydamaging	
NHLH2		inserm.fr	GRCh37	1	116380774	116380774	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000369506.1:c.220G>A	p.Ala74Thr	p.A74T	ENST00000369506		74	Gcc/Acc	0	not done		probablydamaging	
MED13L		inserm.fr	GRCh37	12	116403917	116403917	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000281928.3:c.6357G>A	p.Gln2119=	p.Q2119=	ENST00000281928	NM_015335.4	2119	caG/caA	0	not done		synonymous	
MED13L		inserm.fr	GRCh37	12	116413540	116413540	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1597T																					ENST00000281928.3:c.5368C>A	p.Pro1790Thr	p.P1790T	ENST00000281928	NM_015335.4	1790	Ccc/Acc	0	not done		probablydamaging	
COL10A1		inserm.fr	GRCh37	6	116442562	116442562	+	splice_donor_variant	Splice_Site	SNP	A	T	T			CHC097T																					ENST00000430695.1:c.214+2A>T		p.X72_splice	ENST00000430695				0	not done		benign	
MED13L		inserm.fr	GRCh37	12	116444207	116444207	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1205T																					ENST00000281928.3:c.2248G>A	p.Gly750Arg	p.G750R	ENST00000281928	NM_015335.4	750	Gga/Aga	0	not done		probablydamaging	
MED13L		inserm.fr	GRCh37	12	116446820	116446820	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000281928.3:c.1398G>A	p.Lys466=	p.K466=	ENST00000281928	NM_015335.4	466	aaG/aaA	0	not done		synonymous	
FAM160B1		inserm.fr	GRCh37	10	116593011	116593011	+	synonymous_variant	Silent	SNP	C	T	T			CHC1746T																					ENST00000369248.4:c.144C>T	p.Thr48=	p.T48=	ENST00000369248	NM_020940.3	48	acC/acT	0	not done		synonymous	
TSPYL1		inserm.fr	GRCh37	6	116600415	116600415	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000368608.3:c.579G>A	p.Glu193=	p.E193=	ENST00000368608	NM_003309.3	193	gaG/gaA	0	not done		synonymous	
FAM160B1		inserm.fr	GRCh37	10	116603536	116603536	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM439T																					ENST00000369248.4:c.853A>T	p.Met285Leu	p.M285L	ENST00000369248	NM_020940.3	285	Atg/Ttg	0	validated		probablydamaging	
TRPS1		inserm.fr	GRCh37	8	116617103	116617103	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T									Valid												ENST00000395715.3:c.1093C>A	p.Gln365Lys	p.Q365K	ENST00000395715	NM_014112.2	365	Caa/Aaa	0	validated		probablydamaging	
MAB21L3		inserm.fr	GRCh37	1	116666798	116666798	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1746T																					ENST00000369500.3:c.301C>T	p.Pro101Ser	p.P101S	ENST00000369500	NM_152367.2	101	Ccc/Tcc	0	not done		benign	
SIK3		inserm.fr	GRCh37	11	116728955	116728955	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000292055.4:c.2908G>A	p.Gly970Arg	p.G970R	ENST00000292055	NM_025164.3	970	Ggg/Agg	0	not done		possiblydamaging	
DSE		inserm.fr	GRCh37	6	116756801	116756801	+	synonymous_variant	Silent	SNP	A	T	T			CHC433T																					ENST00000331677.3:c.1170A>T	p.Thr390=	p.T390=	ENST00000331677		390	acA/acT	0	validated		synonymous	
ZNF618		inserm.fr	GRCh37	9	116794991	116794991	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1626T																					ENST00000288466.7:c.872G>T	p.Ser291Ile	p.S291I	ENST00000288466	NM_133374.2	291	aGt/aTt	0	not done		possiblydamaging	
FAM26E		inserm.fr	GRCh37	6	116836860	116836860	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1629T																					ENST00000368599.3:c.638G>T	p.Ser213Ile	p.S213I	ENST00000368599	NM_153711.2	213	aGt/aTt	0	not done		benign	
ST7		inserm.fr	GRCh37	7	116849921	116849921	+	synonymous_variant	Silent	SNP	A	T	T			CHC879T																					ENST00000265437.5:c.1335A>T	p.Ala445=	p.A445=	ENST00000265437	NM_021908.2	445	gcA/gcT	0	not done		synonymous	
WNT2		inserm.fr	GRCh37	7	116918218	116918218	+	synonymous_variant	Silent	SNP	G	T	T			CHC884T																					ENST00000265441.3:c.1074C>A	p.Thr358=	p.T358=	ENST00000265441	NM_003391.2	358	acC/acA	0	validated		synonymous	
ATP1A1		inserm.fr	GRCh37	1	116942149	116942149	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2048T																					ENST00000537345.1:c.2556G>T	p.Met852Ile	p.M852I	ENST00000537345	NM_001160233.1	852	atG/atT	0	not done		benign	
WNT2		inserm.fr	GRCh37	7	116955349	116955349	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC798T																					ENST00000265441.3:c.364G>A	p.Ala122Thr	p.A122T	ENST00000265441	NM_003391.2	122	Gcc/Acc	0	validated		benign	
WNT2		inserm.fr	GRCh37	7	116960744	116960744	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000265441.3:c.187C>A	p.Arg63Ser	p.R63S	ENST00000265441	NM_003391.2	63	Cgt/Agt	0	not done		benign	
WNT2		inserm.fr	GRCh37	7	116962963	116962963	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265441.3:c.81G>A	p.Trp27Ter	p.W27*	ENST00000265441	NM_003391.2	27	tgG/tgA	0	not done		damaging	
COL27A1		inserm.fr	GRCh37	9	117002515	117002515	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1763T																					ENST00000356083.3:c.2743A>T	p.Ile915Phe	p.I915F	ENST00000356083	NM_032888.2	915	Atc/Ttc	0	not done		probablydamaging	
FAM162B		inserm.fr	GRCh37	6	117086683	117086683	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1028T																					ENST00000368557.4:c.57C>A	p.Cys19Ter	p.C19*	ENST00000368557	NM_001085480.2	19	tgC/tgA	0	validated		damaging	
AKNA		inserm.fr	GRCh37	9	117104003	117104003	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000307564.4:c.3877G>A	p.Ala1293Thr	p.A1293T	ENST00000307564	NM_030767.4	1293	Gca/Aca	0	not done		benign	
GPRC6A		inserm.fr	GRCh37	6	117113356	117113356	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC437T																					ENST00000310357.3:c.2730T>A	p.Asn910Lys	p.N910K	ENST00000310357	NM_148963.2	910	aaT/aaA	0	not done		benign	
GPRC6A		inserm.fr	GRCh37	6	117113552	117113552	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1065T									Valid												ENST00000310357.3:c.2534C>A	p.Thr845Lys	p.T845K	ENST00000310357	NM_148963.2	845	aCa/aAa	0	validated		probablydamaging	
IGSF3		inserm.fr	GRCh37	1	117146420	117146420	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1738T																					ENST00000369483.1:c.1510G>A	p.Val504Ile	p.V504I	ENST00000369483	NM_001542.3	504	Gtc/Atc	0	not done		benign	
GPRC6A		inserm.fr	GRCh37	6	117150005	117150005	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1742T																					ENST00000310357.3:c.172C>A	p.Pro58Thr	p.P58T	ENST00000310357	NM_148963.2	58	Cca/Aca	0	not done		probablydamaging	
BACE1		inserm.fr	GRCh37	11	117164604	117164604	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC798T																					ENST00000313005.6:c.688T>A	p.Ser230Thr	p.S230T	ENST00000313005	NM_138971.3	230	Tct/Act	0	validated		benign	
RNFT2		inserm.fr	GRCh37	12	117204667	117204667	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1731T																					ENST00000257575.4:c.676G>T	p.Gly226Trp	p.G226W	ENST00000257575		226	Ggg/Tgg	0	not done		probablydamaging	
CFTR		inserm.fr	GRCh37	7	117235106	117235106	+	synonymous_variant	Silent	SNP	G	T	T			CHC2202T																					ENST00000003084.6:c.2613G>T	p.Leu871=	p.L871=	ENST00000003084	NM_000492.3	871	ctG/ctT	0	validated		synonymous	
RFX6		inserm.fr	GRCh37	6	117239242	117239242	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1205T																					ENST00000332958.2:c.1015C>T	p.Pro339Ser	p.P339S	ENST00000332958	NM_173560.3	339	Cct/Tct	0	validated		possiblydamaging	
ZNF627		inserm.fr	GRCh37	19	11727722	11727722	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB111T									Valid												ENST00000361113.5:c.404G>T	p.Gly135Val	p.G135V	ENST00000361113	NM_145295.3	135	gGa/gTa	0	validated		possiblydamaging	
CEP164		inserm.fr	GRCh37	11	117280366	117280366	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1629T																					ENST00000278935.3:c.3781A>T	p.Ile1261Phe	p.I1261F	ENST00000278935	NM_014956.4	1261	Atc/Ttc	0	not done		benign	
DSCAML1		inserm.fr	GRCh37	11	117302250	117302250	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000321322.6:c.5554G>A	p.Asp1852Asn	p.D1852N	ENST00000321322	NM_020693.2	1852	Gac/Aac	0	not done		probablydamaging	
CD2		inserm.fr	GRCh37	1	117311218	117311218	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC796T									Valid												ENST00000369478.3:c.869C>T	p.Ser290Phe	p.S290F	ENST00000369478	NM_001767.3	290	tCc/tTc	0	validated		possiblydamaging	
DSCAML1		inserm.fr	GRCh37	11	117332262	117332262	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1035T																					ENST00000321322.6:c.3496G>A	p.Val1166Met	p.V1166M	ENST00000321322	NM_020693.2	1166	Gtg/Atg	0	validated		possiblydamaging	
DSCAML1		inserm.fr	GRCh37	11	117391932	117391932	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1205T																					ENST00000321322.6:c.1306G>A	p.Ala436Thr	p.A436T	ENST00000321322	NM_020693.2	436	Gcc/Acc	0	not done		possiblydamaging	
DSCAML1		inserm.fr	GRCh37	11	117403133	117403133	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1717T																					ENST00000321322.6:c.796G>A	p.Gly266Arg	p.G266R	ENST00000321322	NM_020693.2	266	Ggg/Agg	0	not done		probablydamaging	
BHLHA9		inserm.fr	GRCh37	17	1174223	1174223	+	synonymous_variant	Silent	SNP	C	T	T			CHC1154T																					ENST00000391429.1:c.366C>T	p.Arg122=	p.R122=	ENST00000391429	NM_001164405.1	122	cgC/cgT	0	not done		synonymous	
TESC		inserm.fr	GRCh37	12	117479797	117479797	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000335209.7:c.522G>A	p.Glu174=	p.E174=	ENST00000335209		174	gaG/gaA	0	not done		synonymous	
PTGFRN		inserm.fr	GRCh37	1	117509886	117509886	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB231T																					ENST00000393203.2:c.1993G>T	p.Gly665Cys	p.G665C	ENST00000393203	NM_020440.2	665	Ggc/Tgc	0	validated		probablydamaging	
GNAL		inserm.fr	GRCh37	18	11752922	11752922	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000334049.6:c.447C>T	p.Pro149=	p.P149=	ENST00000334049	NM_182978.3	149	ccC/ccT	0	not done		synonymous	
TNFSF15		inserm.fr	GRCh37	9	117552898	117552898	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000374045.4:c.590G>A	p.Gly197Glu	p.G197E	ENST00000374045	NM_005118.3	197	gGg/gAg	0	not done		probablydamaging	
FBXO21		inserm.fr	GRCh37	12	117615338	117615338	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000330622.5:c.579G>A	p.Glu193=	p.E193=	ENST00000330622		193	gaG/gaA	0	not done		synonymous	
TTF2		inserm.fr	GRCh37	1	117619396	117619396	+	synonymous_variant	Silent	SNP	A	T	T			CHC1715T																					ENST00000369466.4:c.1524A>T	p.Leu508=	p.L508=	ENST00000369466	NM_003594.3	508	ctA/ctT	0	validated		synonymous	
TTF2		inserm.fr	GRCh37	1	117629132	117629132	+	synonymous_variant	Silent	SNP	C	T	T			CHC1749T																					ENST00000369466.4:c.2148C>T	p.Asn716=	p.N716=	ENST00000369466	NM_003594.3	716	aaC/aaT	0	not done		synonymous	
NOS1		inserm.fr	GRCh37	12	117664528	117664528	+	synonymous_variant	Silent	SNP	G	T	T			BCM339T																					ENST00000338101.4:c.3766C>A	p.Arg1256=	p.R1256=	ENST00000338101		1256	Cgg/Agg	0	validated		synonymous	
GREB1		inserm.fr	GRCh37	2	11767148	11767148	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM545T																					ENST00000381486.2:c.4367G>T	p.Arg1456Ile	p.R1456I	ENST00000381486	NM_014668.3	1456	aGa/aTa	0	validated		probablydamaging	
NOS1		inserm.fr	GRCh37	12	117681232	117681232	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC2321T																					ENST00000338101.4:c.2934T>A	p.Cys978Ter	p.C978*	ENST00000338101		978	tgT/tgA	0	validated		damaging	
NOS1		inserm.fr	GRCh37	12	117705943	117705943	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000338101.4:c.1846G>A	p.Ala616Thr	p.A616T	ENST00000338101		616	Gcc/Acc	0	not done		possiblydamaging	
DOCK11		inserm.fr	GRCh37	X	117707882	117707882	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000276202.7:c.1290C>T	p.Gly430=	p.G430=	ENST00000276202	NM_144658.3	430	ggC/ggT	0	not done		synonymous	
DNAH9		inserm.fr	GRCh37	17	11772555	11772555	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000262442.4:c.10038C>T	p.Ser3346=	p.S3346=	ENST00000262442	NM_001372.3	3346	tcC/tcT	0	not done		synonymous	
NOS1		inserm.fr	GRCh37	12	117768154	117768154	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM371T																					ENST00000338101.4:c.721G>A	p.Asp241Asn	p.D241N	ENST00000338101		241	Gac/Aac	0	validated		benign	
TNC		inserm.fr	GRCh37	9	117825206	117825206	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000350763.4:c.4023G>A	p.Glu1341=	p.E1341=	ENST00000350763	NM_002160.3	1341	gaG/gaA	0	not done		synonymous	
DNAH9		inserm.fr	GRCh37	17	11784725	11784725	+	synonymous_variant	Silent	SNP	C	T	T			BCB231T																					ENST00000262442.4:c.10801C>T	p.Leu3601=	p.L3601=	ENST00000262442	NM_001372.3	3601	Ctg/Ttg	0	validated		synonymous	
TXNDC11		inserm.fr	GRCh37	16	11785221	11785221	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2115T																					ENST00000283033.5:c.1825G>A	p.Ala609Thr	p.A609T	ENST00000283033	NM_015914.5	609	Gcg/Acg	0	not done		probablydamaging	
TXNDC11		inserm.fr	GRCh37	16	11785835	11785835	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM543T																					ENST00000283033.5:c.1211T>A	p.Leu404Gln	p.L404Q	ENST00000283033	NM_015914.5	404	cTg/cAg	0	validated		probablydamaging	
IL10RA		inserm.fr	GRCh37	11	117859104	117859104	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2213T																					ENST00000227752.3:c.75G>T	p.Glu25Asp	p.E25D	ENST00000227752	NM_001558.3	25	gaG/gaT	0	validated		benign	
DCBLD1		inserm.fr	GRCh37	6	117864343	117864343	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000296955.8:c.1414G>T	p.Ala472Ser	p.A472S	ENST00000296955	NM_173674.1	472	Gct/Tct	0	not done		benign	
IL10RA		inserm.fr	GRCh37	11	117869637	117869637	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000227752.3:c.1018C>T	p.Pro340Ser	p.P340S	ENST00000227752	NM_001558.3	340	Cct/Tct	0	not done		benign	
RAD21		inserm.fr	GRCh37	8	117887111	117887111	+	non_coding_transcript_exon_variant	RNA	SNP	G	T	T			CHC1604T																					ENST00000521487.2:n.449G>T		*150*	ENST00000521487				0	not done			
KSR2		inserm.fr	GRCh37	12	117969471	117969471	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000339824.5:c.1729G>A	p.Asp577Asn	p.D577N	ENST00000339824		577	Gat/Aat	0	not done		possiblydamaging	
DNAH9		inserm.fr	GRCh37	17	11797756	11797756	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC736T									Valid												ENST00000262442.4:c.11349G>T	p.Gln3783His	p.Q3783H	ENST00000262442	NM_001372.3	3783	caG/caT	0	validated		possiblydamaging	
NTSR2		inserm.fr	GRCh37	2	11800177	11800177	+	synonymous_variant	Silent	SNP	C	T	T			CHC1082T																					ENST00000306928.5:c.981G>A	p.Ala327=	p.A327=	ENST00000306928	NM_012344.3	327	gcG/gcA	0	validated		synonymous	
SCN4B		inserm.fr	GRCh37	11	118015802	118015802	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000324727.4:c.204G>A	p.Trp68Ter	p.W68*	ENST00000324727	NM_174934.3	68	tgG/tgA	0	not done		damaging	
SCN4B		inserm.fr	GRCh37	11	118015908	118015908	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC923T																					ENST00000324727.4:c.98T>A	p.Val33Glu	p.V33E	ENST00000324727	NM_174934.3	33	gTg/gAg	0	not done		probablydamaging	
NTSR2		inserm.fr	GRCh37	2	11802288	11802288	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000306928.5:c.703G>A	p.Ala235Thr	p.A235T	ENST00000306928	NM_012344.3	235	Gcc/Acc	0	not done		probablydamaging	
MAN1A2		inserm.fr	GRCh37	1	118065468	118065468	+	synonymous_variant	Silent	SNP	C	T	T			CHC1569T																					ENST00000356554.3:c.1815C>T	p.Ser605=	p.S605=	ENST00000356554	NM_006699.3	605	tcC/tcT	0	not done		synonymous	
AMICA1		inserm.fr	GRCh37	11	118071198	118071198	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000356289.5:c.902G>A	p.Gly301Glu	p.G301E	ENST00000356289	NM_001098526.1	301	gGa/gAa	0	not done		possiblydamaging	
AGTRAP		inserm.fr	GRCh37	1	11810183	11810183	+	synonymous_variant	Silent	SNP	A	T	T			CHC433T																					ENST00000314340.5:c.414A>T	p.Ser138=	p.S138=	ENST00000314340	NM_020350.4	138	tcA/tcT	0	validated		synonymous	
SLC30A8		inserm.fr	GRCh37	8	118147611	118147611	+	synonymous_variant	Silent	SNP	C	T	T			CHC2202T																					ENST00000456015.2:c.45C>T	p.Ala15=	p.A15=	ENST00000456015	NM_173851.2	15	gcC/gcT	0	not done		synonymous	
SLC30A8		inserm.fr	GRCh37	8	118169943	118169943	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000456015.2:c.432C>T	p.Ala144=	p.A144=	ENST00000456015	NM_173851.2	144	gcC/gcT	0	not done		synonymous	
CD3E		inserm.fr	GRCh37	11	118186202	118186202	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361763.4:c.569C>T	p.Pro190Leu	p.P190L	ENST00000361763	NM_000733.3	190	cCc/cTc	0	not done		probablydamaging	
FAM132A		inserm.fr	GRCh37	1	1181922	1181922	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM545T									Valid												ENST00000330388.2:c.149C>A	p.Ser50Tyr	p.S50Y	ENST00000330388	NM_001014980.2	50	tCc/tAc	0	validated		possiblydamaging	
CD3D		inserm.fr	GRCh37	11	118211227	118211227	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000300692.4:c.137G>A	p.Gly46Glu	p.G46E	ENST00000300692	NM_000732.4	46	gGa/gAa	0	not done		possiblydamaging	
LOC100506273		inserm.fr	GRCh37	1	11822155	11822155	+	synonymous_variant	Silent	SNP	G	T	T			CHC1154T																					ENST00000433342.1:c.312G>T	p.Arg104=	p.R104=	ENST00000433342		104	cgG/cgT	0	not done		synonymous	
KIAA1210		inserm.fr	GRCh37	X	118221692	118221692	+	synonymous_variant	Silent	SNP	A	T	T			CHC912T																					ENST00000402510.2:c.3501T>A	p.Val1167=	p.V1167=	ENST00000402510	NM_020721.1	1167	gtT/gtA	0	validated		synonymous	
KIAA1210		inserm.fr	GRCh37	X	118250482	118250482	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000402510.2:c.627G>A	p.Arg209=	p.R209=	ENST00000402510	NM_020721.1	209	cgG/cgA	0	not done		synonymous	
DTWD2		inserm.fr	GRCh37	5	118264246	118264246	+	synonymous_variant	Silent	SNP	G	T	T			CHC1182T																					ENST00000510708.1:c.583C>A	p.Arg195=	p.R195=	ENST00000510708	NM_173666.2	195	Cga/Aga	0	not done		synonymous	
KIAA1210		inserm.fr	GRCh37	X	118284304	118284304	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2127T																					ENST00000402510.2:c.239C>A	p.Ser80Tyr	p.S80Y	ENST00000402510	NM_020721.1	80	tCc/tAc	0	not done		benign	
PNLIP		inserm.fr	GRCh37	10	118310651	118310651	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000369221.2:c.366C>T	p.Asp122=	p.D122=	ENST00000369221	NM_000936.2	122	gaC/gaT	0	not done		synonymous	
TUSC5		inserm.fr	GRCh37	17	1183305	1183305	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000333813.3:c.10C>T	p.Pro4Ser	p.P4S	ENST00000333813	NM_172367.2	4	Ccg/Tcg	0	not done		benign	
KMT2A		inserm.fr	GRCh37	11	118347598	118347598	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC889T																					ENST00000534358.1:c.3235C>T	p.Leu1079Phe	p.L1079F	ENST00000534358	NM_005933.3	1079	Ctt/Ttt	0	not done		probablydamaging	
KMT2A		inserm.fr	GRCh37	11	118354922	118354922	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1616T																					ENST00000534358.1:c.4111C>T	p.Gln1371Ter	p.Q1371*	ENST00000534358	NM_005933.3	1371	Cag/Tag	0	not done		damaging	
KMT2A		inserm.fr	GRCh37	11	118376860	118376860	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1738T																					ENST00000534358.1:c.10253C>T	p.Pro3418Leu	p.P3418L	ENST00000534358	NM_005933.3	3418	cCc/cTc	0	not done		probablydamaging	
C1orf167		inserm.fr	GRCh37	1	11838742	11838742	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000433342.1:c.2437C>T	p.Arg813Trp	p.R813W	ENST00000433342		813	Cgg/Tgg	0	not done			
C1orf167		inserm.fr	GRCh37	1	11842248	11842248	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	T	T			CHC1566T																					ENST00000433342.1:c.2935C>T	p.Gln979Ter	p.Q979*	ENST00000433342		979	Cag/Tag	0	not done		damaging	
DMXL1		inserm.fr	GRCh37	5	118469843	118469843	+	synonymous_variant	Silent	SNP	C	T	T			CHC051T																					ENST00000311085.8:c.2224C>T	p.Leu742=	p.L742=	ENST00000311085	NM_005509.4	742	Ctg/Ttg	0	validated		synonymous	
C1orf167		inserm.fr	GRCh37	1	11847971	11847971	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1749T																					ENST00000433342.1:c.3787C>T	p.Pro1263Ser	p.P1263S	ENST00000433342		1263	Cca/Tca	0	not done			
WDR3		inserm.fr	GRCh37	1	118492616	118492616	+	splice_acceptor_variant	Splice_Site	SNP	A	T	T			CHC433T									Valid												ENST00000349139.5:c.1611-2A>T		p.X537_splice	ENST00000349139	NM_006784.2			0	validated		damaging	
WDR3		inserm.fr	GRCh37	1	118493486	118493486	+	synonymous_variant	Silent	SNP	G	T	T			CHC2098T																					ENST00000349139.5:c.1776G>T	p.Leu592=	p.L592=	ENST00000349139	NM_006784.2	592	ctG/ctT	0	validated		synonymous	
PHLDB1		inserm.fr	GRCh37	11	118498888	118498888	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1743T																					ENST00000361417.2:c.1349G>T	p.Gly450Val	p.G450V	ENST00000361417	NM_015157.3	450	gGc/gTc	0	not done		probablydamaging	
PEBP1		inserm.fr	GRCh37	12	118575953	118575953	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1079T																					ENST00000261313.2:c.245G>T	p.Arg82Ile	p.R82I	ENST00000261313	NM_002567.2	82	aGa/aTa	0	not done		possiblydamaging	
SPAG17		inserm.fr	GRCh37	1	118581972	118581972	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000336338.5:c.3262G>A	p.Gly1088Arg	p.G1088R	ENST00000336338	NM_206996.2	1088	Ggg/Agg	0	not done		benign	
DDX18		inserm.fr	GRCh37	2	118583899	118583899	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000263239.2:c.1576G>T	p.Ala526Ser	p.A526S	ENST00000263239	NM_006773.3	526	Gcc/Tcc	0	not done		benign	
DNAH9		inserm.fr	GRCh37	17	11865421	11865421	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1604T																					ENST00000262442.4:c.13081C>T	p.Gln4361Ter	p.Q4361*	ENST00000262442	NM_001372.3	4361	Cag/Tag	0	not done		damaging	
CXorf56		inserm.fr	GRCh37	X	118694289	118694289	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1148T																					ENST00000371594.4:c.184G>A	p.Ala62Thr	p.A62T	ENST00000371594	NM_022101.3	62	Gcc/Acc	0	not done		benign	
ZC3H7A		inserm.fr	GRCh37	16	11870186	11870186	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000396516.2:c.575G>A	p.Gly192Glu	p.G192E	ENST00000396516		192	gGg/gAg	0	not done		benign	
CXCR5		inserm.fr	GRCh37	11	118764847	118764847	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000292174.4:c.594C>T	p.Ser198=	p.S198=	ENST00000292174	NM_001716.4	198	tcC/tcT	0	not done		synonymous	
BCL9L		inserm.fr	GRCh37	11	118772323	118772323	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000334801.3:c.2129G>A	p.Arg710Gln	p.R710Q	ENST00000334801	NM_182557.2	710	cGg/cAg	0	not done		probablydamaging	
BCL9L		inserm.fr	GRCh37	11	118772828	118772828	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000334801.3:c.1624G>A	p.Gly542Arg	p.G542R	ENST00000334801	NM_182557.2	542	Ggg/Agg	0	not done		possiblydamaging	
BCL9L		inserm.fr	GRCh37	11	118773407	118773407	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB307T									Valid												ENST00000334801.3:c.1045G>A	p.Gly349Arg	p.G349R	ENST00000334801	NM_182557.2	349	Ggg/Agg	0	validated		probablydamaging	
FOXR1		inserm.fr	GRCh37	11	118849522	118849522	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1600T																					ENST00000317011.3:c.92C>T	p.Pro31Leu	p.P31L	ENST00000317011	NM_181721.2	31	cCa/cTa	0	not done		possiblydamaging	
C3orf30		inserm.fr	GRCh37	3	118865070	118865070	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1061T																					ENST00000295622.1:c.34C>T	p.Pro12Ser	p.P12S	ENST00000295622	NM_152539.2	12	Ccc/Tcc	0	validated		benign	
HYOU1		inserm.fr	GRCh37	11	118917452	118917452	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000404233.3:c.2658G>A	p.Leu886=	p.L886=	ENST00000404233	NM_001130991.1	886	ttG/ttA	0	not done		synonymous	
HYOU1		inserm.fr	GRCh37	11	118920272	118920272	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1743T																					ENST00000404233.3:c.1802T>A	p.Val601Asp	p.V601D	ENST00000404233	NM_001130991.1	601	gTc/gAc	0	not done		possiblydamaging	
RPL39		inserm.fr	GRCh37	X	118920687	118920687	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM229T																					ENST00000361575.3:c.116C>A	p.Ser39Tyr	p.S39Y	ENST00000361575	NM_001000.3	39	tCc/tAc	0	validated		probablydamaging	
B4GALT4		inserm.fr	GRCh37	3	118948760	118948760	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2358T																					ENST00000483209.1:c.187C>A	p.Leu63Met	p.L63M	ENST00000483209		63	Ctg/Atg	0	validated		benign	
PAPPA		inserm.fr	GRCh37	9	118949716	118949716	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM265T									Valid												ENST00000328252.3:c.699G>T	p.Gln233His	p.Q233H	ENST00000328252	NM_002581.3	233	caG/caT	0	validated		probablydamaging	
KCNK18		inserm.fr	GRCh37	10	118957020	118957020	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000334549.1:c.21C>T	p.Pro7=	p.P7=	ENST00000334549	NM_181840.1	7	ccC/ccT	0	not done		synonymous	
HMBS		inserm.fr	GRCh37	11	118960923	118960923	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1731T																					ENST00000278715.3:c.446G>T	p.Arg149Leu	p.R149L	ENST00000278715	NM_000190.3	149	cGa/cTa	0	not done		probablydamaging	
HMBS		inserm.fr	GRCh37	11	118962130	118962130	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1731T																					ENST00000278715.3:c.506A>T	p.Asn169Ile	p.N169I	ENST00000278715	NM_000190.3	169	aAc/aTc	0	not done		probablydamaging	
HMBS		inserm.fr	GRCh37	11	118962147	118962147	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM683T																					ENST00000278715.3:c.523C>T	p.Arg175Trp	p.R175W	ENST00000278715	NM_000190.3	175	Cgg/Tgg	0	validated		probablydamaging	
CNTN6		inserm.fr	GRCh37	3	1189732	1189732	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1183T																					ENST00000446702.2:c.40A>T	p.Ile14Leu	p.I14L	ENST00000446702		14	Ata/Tta	0	not done		benign	
C2CD2L		inserm.fr	GRCh37	11	118983044	118983044	+	synonymous_variant	Silent	SNP	G	T	T			CHC322T																					ENST00000336702.3:c.1026G>T	p.Leu342=	p.L342=	ENST00000336702	NM_014807.3	342	ctG/ctT	0	validated		synonymous	
UPF3B		inserm.fr	GRCh37	X	118985837	118985837	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000276201.2:c.157-1G>A		p.X53_splice	ENST00000276201	NM_080632.2			0	not done		damaging	
RNF113A		inserm.fr	GRCh37	X	119005167	119005167	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371442.2:c.410G>A	p.Ser137Asn	p.S137N	ENST00000371442	NM_006978.2	137	aGc/aAc	0	not done		probablydamaging	
SLC18A2		inserm.fr	GRCh37	10	119013965	119013965	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000298472.5:c.657C>T	p.Asn219=	p.N219=	ENST00000298472	NM_003054.4	219	aaC/aaT	0	not done		synonymous	
NLRX1		inserm.fr	GRCh37	11	119050613	119050613	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1744T																					ENST00000409109.1:c.1883G>T	p.Gly628Val	p.G628V	ENST00000409109	NM_001282144.1	628	gGg/gTg	0	not done		benign	
PDZD3		inserm.fr	GRCh37	11	119058780	119058780	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000355547.5:c.789C>T	p.Cys263=	p.C263=	ENST00000355547	NM_001168468.1	263	tgC/tgT	0	not done		synonymous	
NKAP		inserm.fr	GRCh37	X	119059334	119059334	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1591T																					ENST00000371410.3:c.1097G>A	p.Arg366Gln	p.R366Q	ENST00000371410	NM_024528.3	366	cGa/cAa	0	not done		probablydamaging	
CBL		inserm.fr	GRCh37	11	119077163	119077163	+	synonymous_variant	Silent	SNP	G	T	T			CHC1055T																					ENST00000264033.4:c.36G>T	p.Gly12=	p.G12=	ENST00000264033	NM_005188.3	12	ggG/ggT	0	validated		synonymous	
UBE2J2		inserm.fr	GRCh37	1	1190824	1190824	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1725T																					ENST00000400930.4:c.587G>A	p.Arg196Lys	p.R196K	ENST00000400930	NM_194315.1	196	aGa/aAa	0	not done		benign	
PROSER2		inserm.fr	GRCh37	10	11908748	11908748	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1741T																					ENST00000277570.5:c.357A>T	p.Glu119Asp	p.E119D	ENST00000277570	NM_153256.3	119	gaA/gaT	0	not done		probablydamaging	
ARHGAP31		inserm.fr	GRCh37	3	119099789	119099789	+	synonymous_variant	Silent	SNP	C	T	T			CHC1720T																					ENST00000264245.4:c.387C>T	p.Ala129=	p.A129=	ENST00000264245	NM_020754.2	129	gcC/gcT	0	not done		synonymous	
ARHGAP31		inserm.fr	GRCh37	3	119112377	119112377	+	synonymous_variant	Silent	SNP	A	T	T			CHC796T																					ENST00000264245.4:c.945A>T	p.Ser315=	p.S315=	ENST00000264245	NM_020754.2	315	tcA/tcT	0	validated		synonymous	
ARHGAP31		inserm.fr	GRCh37	3	119133969	119133969	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000264245.4:c.3193C>T	p.Pro1065Ser	p.P1065S	ENST00000264245	NM_020754.2	1065	Cca/Tca	0	not done		benign	
MCM9		inserm.fr	GRCh37	6	119150336	119150336	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM617T																					ENST00000316316.6:c.1403C>A	p.Ser468Tyr	p.S468Y	ENST00000316316	NM_017696.2	468	tCc/tAc	0	validated			
MCAM		inserm.fr	GRCh37	11	119181552	119181552	+	synonymous_variant	Silent	SNP	G	T	T			CHC432T																					ENST00000264036.4:c.1707C>A	p.Ile569=	p.I569=	ENST00000264036	NM_006500.2	569	atC/atA	0	not done		synonymous	
POGLUT1		inserm.fr	GRCh37	3	119209495	119209495	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1742T																					ENST00000295588.4:c.895G>T	p.Glu299Ter	p.E299*	ENST00000295588	NM_152305.2	299	Gaa/Taa	0	not done		damaging	
MFRP		inserm.fr	GRCh37	11	119212369	119212369	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000530681.1:c.1629G>A	p.Gln543=	p.Q543=	ENST00000530681		543	caG/caA	0	not done		synonymous	
MFRP		inserm.fr	GRCh37	11	119213663	119213663	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	T	T			CHC703T																					ENST00000530681.1:c.1175T>A	p.Leu392Gln	p.L392Q	ENST00000530681		392	cTg/cAg	0	validated		probablydamaging	
LPIN1		inserm.fr	GRCh37	2	11925198	11925198	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000449576.2:c.1692G>T	p.Thr564=	p.T564=	ENST00000449576	NM_001261428.1	564	acG/acT	0	not done		synonymous	
ERC1		inserm.fr	GRCh37	12	1192686	1192686	+	synonymous_variant	Silent	SNP	C	T	T			CHC909T																					ENST00000397203.2:c.1026C>T	p.His342=	p.H342=	ENST00000397203		342	caC/caT	0	not done		synonymous	
FAM184A		inserm.fr	GRCh37	6	119399309	119399309	+	synonymous_variant	Silent	SNP	G	T	T			CHC1065T																					ENST00000338891.7:c.156C>A	p.Thr52=	p.T52=	ENST00000338891	NM_024581.4	52	acC/acA	0	validated		synonymous	
ATP1B4		inserm.fr	GRCh37	X	119509321	119509321	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000218008.3:c.657C>T	p.Ala219=	p.A219=	ENST00000218008	NM_001142447.2	219	gcC/gcT	0	not done		synonymous	
ATP1B4		inserm.fr	GRCh37	X	119513472	119513472	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000218008.3:c.1057C>T	p.Leu353=	p.L353=	ENST00000218008	NM_001142447.2	353	Ctg/Ttg	0	not done		synonymous	
PVRL1		inserm.fr	GRCh37	11	119548443	119548443	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCM567T																					ENST00000264025.3:c.555G>A	p.Trp185Ter	p.W185*	ENST00000264025	NM_002855.4	185	tgG/tgA	0	validated		damaging	
SRRM4		inserm.fr	GRCh37	12	119568574	119568574	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000267260.4:c.706G>T	p.Ala236Ser	p.A236S	ENST00000267260	NM_194286.3	236	Gcc/Tcc	0	not done		possiblydamaging	
SRRM4		inserm.fr	GRCh37	12	119591394	119591394	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1732T																					ENST00000267260.4:c.1331C>T	p.Pro444Leu	p.P444L	ENST00000267260	NM_194286.3	444	cCg/cTg	0	not done		possiblydamaging	
EN1		inserm.fr	GRCh37	2	119600772	119600772	+	synonymous_variant	Silent	SNP	C	T	T			CHC1185T																					ENST00000295206.6:c.921G>A	p.Arg307=	p.R307=	ENST00000295206	NM_001426.3	307	cgG/cgA	0	not done		synonymous	
LPIN1		inserm.fr	GRCh37	2	11964857	11964857	+	synonymous_variant	Silent	SNP	C	T	T			BCM257T																					ENST00000449576.2:c.2868C>T	p.Thr956=	p.T956=	ENST00000449576	NM_001261428.1	956	acC/acT	0	validated		synonymous	
CUL4B		inserm.fr	GRCh37	X	119669746	119669746	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000404115.3:c.2153G>A	p.Gly718Asp	p.G718D	ENST00000404115	NM_003588.3	718	gGc/gAc	0	not done		possiblydamaging	
MAN1A1		inserm.fr	GRCh37	6	119670225	119670225	+	synonymous_variant	Silent	SNP	G	T	T			CHC736T																					ENST00000368468.3:c.6C>A	p.Pro2=	p.P2=	ENST00000368468	NM_005907.3	2	ccC/ccA	0	validated		synonymous	
USP47		inserm.fr	GRCh37	11	11971500	11971500	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC121T									Valid												ENST00000339865.5:c.3209A>T	p.Glu1070Val	p.E1070V	ENST00000339865	NM_017944.3	1070	gAa/gTa	0	validated		probablydamaging	
GSPT1		inserm.fr	GRCh37	16	11980659	11980659	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1137T																					ENST00000434724.2:c.1087C>A	p.Pro363Thr	p.P363T	ENST00000434724	NM_002094.3	363	Cca/Aca	0	not done		probablydamaging	
DKK3		inserm.fr	GRCh37	11	11988571	11988571	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000396505.2:c.603G>A	p.Arg201=	p.R201=	ENST00000396505	NM_015881.5	201	agG/agA	0	not done		synonymous	
C1QL2		inserm.fr	GRCh37	2	119915647	119915647	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000272520.3:c.199G>A	p.Ala67Thr	p.A67T	ENST00000272520	NM_182528.3	67	Gcc/Acc	0	not done		possiblydamaging	
UPF2		inserm.fr	GRCh37	10	11998360	11998360	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC361TA									Valid												ENST00000356352.2:c.2533G>A	p.Val845Ile	p.V845I	ENST00000356352		845	Gtt/Att	0	validated		possiblydamaging	
TRIM29		inserm.fr	GRCh37	11	119998137	119998137	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000341846.5:c.1041G>A	p.Met347Ile	p.M347I	ENST00000341846	NM_012101.3	347	atG/atA	0	not done		benign	
UPF2		inserm.fr	GRCh37	10	12001356	12001356	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC1534T																					ENST00000356352.2:c.2185-1G>A		p.X729_splice	ENST00000356352				0	validated		damaging	
MYOZ2		inserm.fr	GRCh37	4	120085411	120085411	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000307128.5:c.422C>T	p.Thr141Ile	p.T141I	ENST00000307128	NM_016599.4	141	aCc/aTc	0	not done		probablydamaging	
CIT		inserm.fr	GRCh37	12	120150053	120150053	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000392521.2:c.4784G>A	p.Arg1595His	p.R1595H	ENST00000392521	NM_001206999.1	1595	cGc/cAc	0	validated		probablydamaging	
ZNF697		inserm.fr	GRCh37	1	120165752	120165752	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000421812.2:c.1214G>A	p.Gly405Asp	p.G405D	ENST00000421812	NM_001080470.1	405	gGc/gAc	0	not done		probablydamaging	
CIT		inserm.fr	GRCh37	12	120166335	120166335	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T									Valid												ENST00000392521.2:c.3563G>A	p.Arg1188Gln	p.R1188Q	ENST00000392521	NM_001206999.1	1188	cGa/cAa	0	validated		probablydamaging	
SLC6A19		inserm.fr	GRCh37	5	1201837	1201837	+	synonymous_variant	Silent	SNP	C	T	T			CHC1754T																					ENST00000304460.10:c.72C>T	p.Ile24=	p.I24=	ENST00000304460	NM_001003841.2	24	atC/atT	0	not done		synonymous	
SLC6A19		inserm.fr	GRCh37	5	1201905	1201905	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1602T																					ENST00000304460.10:c.140G>T	p.Gly47Val	p.G47V	ENST00000304460	NM_001003841.2	47	gGc/gTc	0	not done		probablydamaging	
CIT		inserm.fr	GRCh37	12	120295347	120295347	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000392521.2:c.394G>A	p.Ala132Thr	p.A132T	ENST00000392521	NM_001206999.1	132	Gct/Act	0	not done		benign	
ARHGEF12		inserm.fr	GRCh37	11	120329993	120329993	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM723T																					ENST00000397843.2:c.2491A>T	p.Ile831Phe	p.I831F	ENST00000397843	NM_015313.2	831	Att/Ttt	0	validated		probablydamaging	
HGD		inserm.fr	GRCh37	3	120365155	120365155	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCB231T																					ENST00000283871.5:c.608T>A	p.Val203Asp	p.V203D	ENST00000283871	NM_000187.3	203	gTc/gAc	0	validated		probablydamaging	
NOV		inserm.fr	GRCh37	8	120435193	120435193	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1743T																					ENST00000259526.3:c.895C>T	p.Arg299Cys	p.R299C	ENST00000259526	NM_002514.3	299	Cgc/Tgc	0	not done		probablydamaging	
NOV		inserm.fr	GRCh37	8	120435194	120435194	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1743T																					ENST00000259526.3:c.896G>T	p.Arg299Leu	p.R299L	ENST00000259526	NM_002514.3	299	cGc/cTc	0	not done		probablydamaging	
TMEM177		inserm.fr	GRCh37	2	120438839	120438839	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM695T																					ENST00000424086.1:c.410C>T	p.Ala137Val	p.A137V	ENST00000424086	NM_001105198.1	137	gCc/gTc	0	validated		benign	
GTF2E1		inserm.fr	GRCh37	3	120500303	120500303	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB151T																					ENST00000283875.5:c.1306G>T	p.Asp436Tyr	p.D436Y	ENST00000283875	NM_005513.2	436	Gac/Tac	0	validated		probablydamaging	
GCN1L1		inserm.fr	GRCh37	12	120576585	120576585	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000300648.6:c.6070G>A	p.Ala2024Thr	p.A2024T	ENST00000300648	NM_006836.1	2024	Gcg/Acg	0	not done		probablydamaging	
GCN1L1		inserm.fr	GRCh37	12	120589033	120589033	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC909T																					ENST00000300648.6:c.4225G>A	p.Gly1409Ser	p.G1409S	ENST00000300648	NM_006836.1	1409	Ggc/Agc	0	not done		probablydamaging	
GCN1L1		inserm.fr	GRCh37	12	120589084	120589084	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC433T									Valid												ENST00000300648.6:c.4174G>A	p.Ala1392Thr	p.A1392T	ENST00000300648	NM_006836.1	1392	Gca/Aca	0	validated		probablydamaging	
ENPP2		inserm.fr	GRCh37	8	120594657	120594657	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC1743T																					ENST00000259486.6:c.1884+1G>A		p.X628_splice	ENST00000259486	NM_006209.4			0	not done		damaging	
GCN1L1		inserm.fr	GRCh37	12	120597991	120597991	+	synonymous_variant	Silent	SNP	C	T	T			CHC891T																					ENST00000300648.6:c.2505G>A	p.Gln835=	p.Q835=	ENST00000300648	NM_006836.1	835	caG/caA	0	not done		synonymous	
GCN1L1		inserm.fr	GRCh37	12	120606025	120606025	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000300648.6:c.1599G>A	p.Met533Ile	p.M533I	ENST00000300648	NM_006836.1	533	atG/atA	0	not done		benign	
PTPN4		inserm.fr	GRCh37	2	120677657	120677657	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1629T																					ENST00000263708.2:c.841G>T	p.Glu281Ter	p.E281*	ENST00000263708	NM_002830.3	281	Gaa/Taa	0	not done		damaging	
TAF2		inserm.fr	GRCh37	8	120774743	120774743	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC121T																					ENST00000378164.2:c.2470C>A	p.Pro824Thr	p.P824T	ENST00000378164	NM_003184.3	824	Cct/Act	0	validated		benign	
GRIK4		inserm.fr	GRCh37	11	120837960	120837960	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC301T																					ENST00000527524.2:c.2323C>T	p.Arg775Cys	p.R775C	ENST00000527524	NM_001282470.1	775	Cgc/Tgc	0	validated		benign	
COQ5		inserm.fr	GRCh37	12	120954457	120954457	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000288532.6:c.487G>A	p.Gly163Ser	p.G163S	ENST00000288532	NM_032314.3	163	Ggc/Agc	0	not done		benign	
TBCEL		inserm.fr	GRCh37	11	120957560	120957560	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2127T																					ENST00000422003.2:c.1030G>T	p.Ala344Ser	p.A344S	ENST00000422003	NM_152715.3	344	Gca/Tca	0	not done		benign	
TBCEL		inserm.fr	GRCh37	11	120957561	120957561	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2127T																					ENST00000422003.2:c.1031C>T	p.Ala344Val	p.A344V	ENST00000422003	NM_152715.3	344	gCa/gTa	0	not done		benign	
STXBP5L		inserm.fr	GRCh37	3	120998801	120998801	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC917T																					ENST00000273666.6:c.2108C>T	p.Ala703Val	p.A703V	ENST00000273666	NM_014980.2	703	gCa/gTa	0	validated		possiblydamaging	
TECTA		inserm.fr	GRCh37	11	121008507	121008507	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1207T																					ENST00000392793.1:c.3319C>T	p.His1107Tyr	p.H1107Y	ENST00000392793		1107	Cac/Tac	0	not done		probablydamaging	
TECTA		inserm.fr	GRCh37	11	121060519	121060519	+	synonymous_variant	Silent	SNP	G	T	T			CHC1205T																					ENST00000392793.1:c.6297G>T	p.Thr2099=	p.T2099=	ENST00000392793		2099	acG/acT	0	validated		synonymous	
MLEC		inserm.fr	GRCh37	12	121132654	121132654	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC902T																					ENST00000228506.3:c.442G>T	p.Val148Phe	p.V148F	ENST00000228506	NM_014730.2	148	Gtc/Ttc	0	not done		probablydamaging	
MLEC		inserm.fr	GRCh37	12	121134267	121134267	+	synonymous_variant	Silent	SNP	G	T	T			CHC306T																					ENST00000228506.3:c.798G>T	p.Ser266=	p.S266=	ENST00000228506	NM_014730.2	266	tcG/tcT	0	validated		synonymous	
COL14A1		inserm.fr	GRCh37	8	121160107	121160107	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC703T																					ENST00000297848.3:c.26G>T	p.Arg9Leu	p.R9L	ENST00000297848	NM_021110.2	9	cGg/cTg	0	validated		benign	
COL14A1		inserm.fr	GRCh37	8	121174723	121174723	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000297848.3:c.264C>T	p.Gly88=	p.G88=	ENST00000297848	NM_021110.2	88	ggC/ggT	0	not done		synonymous	
FTMT		inserm.fr	GRCh37	5	121188228	121188228	+	synonymous_variant	Silent	SNP	C	T	T			CHC703T																					ENST00000321339.1:c.570C>T	p.Cys190=	p.C190=	ENST00000321339	NM_177478.1	190	tgC/tgT	0	not done		synonymous	
POLQ		inserm.fr	GRCh37	3	121212489	121212489	+	synonymous_variant	Silent	SNP	C	T	T			CHC1568T																					ENST00000264233.5:c.2358G>A	p.Thr786=	p.T786=	ENST00000264233	NM_199420.3	786	acG/acA	0	not done		synonymous	
COL14A1		inserm.fr	GRCh37	8	121239522	121239522	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000297848.3:c.2068G>T	p.Glu690Ter	p.E690*	ENST00000297848	NM_021110.2	690	Gaa/Taa	0	not done		damaging	
COL14A1		inserm.fr	GRCh37	8	121240980	121240980	+	synonymous_variant	Silent	SNP	C	T	T			CHC1154T																					ENST00000297848.3:c.2169C>T	p.Thr723=	p.T723=	ENST00000297848	NM_021110.2	723	acC/acT	0	not done		synonymous	
POLQ		inserm.fr	GRCh37	3	121263674	121263674	+	synonymous_variant	Silent	SNP	C	T	T			CHC2321T																					ENST00000264233.5:c.243G>A	p.Leu81=	p.L81=	ENST00000264233	NM_199420.3	81	ctG/ctA	0	validated		synonymous	
DHTKD1		inserm.fr	GRCh37	10	12126663	12126663	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC121T									Valid												ENST00000263035.4:c.435G>T	p.Trp145Cys	p.W145C	ENST00000263035	NM_018706.6	145	tgG/tgT	0	validated		probablydamaging	
ARGFX		inserm.fr	GRCh37	3	121305436	121305436	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM321T									Valid												ENST00000334384.3:c.937G>T	p.Gly313Ter	p.G313*	ENST00000334384	NM_001012659.1	313	Gga/Tga	0	validated		damaging	
TIAL1		inserm.fr	GRCh37	10	121341990	121341990	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000369093.2:c.260G>A	p.Gly87Glu	p.G87E	ENST00000369093	NM_001033925.1	87	gGg/gAg	0	not done		probablydamaging	
TIAL1		inserm.fr	GRCh37	10	121355953	121355953	+	synonymous_variant	Silent	SNP	G	T	T			CHC301T																					ENST00000369093.2:c.25C>A	p.Arg9=	p.R9=	ENST00000369093	NM_001033925.1	9	Cgg/Agg	0	validated		synonymous	
COL14A1		inserm.fr	GRCh37	8	121383423	121383423	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC703T																					ENST00000297848.3:c.5344G>T	p.Val1782Phe	p.V1782F	ENST00000297848	NM_021110.2	1782	Gtc/Ttc	0	validated		probablydamaging	
GOLGB1		inserm.fr	GRCh37	3	121412722	121412722	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1739T																					ENST00000393667.3:c.6648G>A	p.Trp2216Ter	p.W2216*	ENST00000393667	NM_001256486.1	2216	tgG/tgA	0	not done		damaging	
HNF1A		inserm.fr	GRCh37	12	121416584	121416584	+	synonymous_variant	Silent	SNP	C	T	T			CHC923T																					ENST00000257555.6:c.13C>T	p.Leu5=	p.L5=	ENST00000257555		5	Ctg/Ttg	0	not done		synonymous	
HNF1A		inserm.fr	GRCh37	12	121426735	121426735	+	synonymous_variant	Silent	SNP	C	T	T			CHC429T																					ENST00000257555.6:c.426C>T	p.Ser142=	p.S142=	ENST00000257555		142	tcC/tcT	0	validated		synonymous	
HNF1A		inserm.fr	GRCh37	12	121431977	121431977	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1211T																					ENST00000257555.6:c.724A>T	p.Ile242Phe	p.I242F	ENST00000257555		242	Atc/Ttc	0	not done		possiblydamaging	
HNF1A		inserm.fr	GRCh37	12	121434470	121434470	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM617T																					ENST00000257555.6:c.1234A>T	p.Met412Leu	p.M412L	ENST00000257555		412	Atg/Ttg	0	validated		probablydamaging	
HNF1A		inserm.fr	GRCh37	12	121437143	121437143	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC155T									Valid												ENST00000257555.6:c.1574C>T	p.Thr525Ile	p.T525I	ENST00000257555		525	aCc/aTc	0	validated		probablydamaging	
SORL1		inserm.fr	GRCh37	11	121481841	121481841	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC909T																					ENST00000260197.7:c.5296A>T	p.Thr1766Ser	p.T1766S	ENST00000260197	NM_003105.5	1766	Acc/Tcc	0	not done		benign	
ZNF474		inserm.fr	GRCh37	5	121487877	121487877	+	synonymous_variant	Silent	SNP	G	T	T			CHC2110Tbis																					ENST00000296600.4:c.192G>T	p.Gly64=	p.G64=	ENST00000296600	NM_207317.1	64	ggG/ggT	0	not done		synonymous	
IQCB1		inserm.fr	GRCh37	3	121507151	121507151	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000310864.6:c.1258G>A	p.Ala420Thr	p.A420T	ENST00000310864	NM_001023570.2	420	Gct/Act	0	not done		possiblydamaging	
C6orf170		inserm.fr	GRCh37	6	121625960	121625960	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM545T																					ENST00000398212.2:c.710G>A	p.Cys237Tyr	p.C237Y	ENST00000398212	NM_152730.4	237	tGt/tAt	0	validated		benign	
SLC15A2		inserm.fr	GRCh37	3	121646614	121646614	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1602T																					ENST00000489711.1:c.1134G>T	p.Arg378Ser	p.R378S	ENST00000489711	NM_021082.3	378	agG/agT	0	not done		possiblydamaging	
P2RX4		inserm.fr	GRCh37	12	121666876	121666876	+	synonymous_variant	Silent	SNP	C	T	T			CHC879T																					ENST00000359949.7:c.906C>T	p.His302=	p.H302=	ENST00000359949	NM_001256796.1	302	caC/caT	0	not done		synonymous	
PTPRZ1		inserm.fr	GRCh37	7	121676725	121676725	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC805T																					ENST00000393386.2:c.5356A>T	p.Asn1786Tyr	p.N1786Y	ENST00000393386	NM_001206838.1	1786	Aat/Tat	0	not done		probablydamaging	
GLI2		inserm.fr	GRCh37	2	121685018	121685018	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000452319.1:c.230C>T	p.Pro77Leu	p.P77L	ENST00000452319		77	cCt/cTt	0	not done		probablydamaging	
SEC23IP		inserm.fr	GRCh37	10	121689925	121689925	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1743T																					ENST00000369075.3:c.2554A>T	p.Arg852Ter	p.R852*	ENST00000369075	NM_007190.3	852	Aga/Tga	0	not done		damaging	
GLI2		inserm.fr	GRCh37	2	121732549	121732549	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC889T																					ENST00000452319.1:c.1232A>T	p.Gln411Leu	p.Q411L	ENST00000452319		411	cAg/cTg	0	not done		benign	
PRDM5		inserm.fr	GRCh37	4	121739515	121739515	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1743T																					ENST00000264808.3:c.643C>A	p.Gln215Lys	p.Q215K	ENST00000264808	NM_018699.2	215	Caa/Aaa	0	not done		probablydamaging	
GLI2		inserm.fr	GRCh37	2	121746138	121746138	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM275T									Valid												ENST00000452319.1:c.2648C>T	p.Pro883Leu	p.P883L	ENST00000452319		883	cCg/cTg	0	validated		probablydamaging	
GLI2		inserm.fr	GRCh37	2	121746417	121746417	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000452319.1:c.2927C>T	p.Pro976Leu	p.P976L	ENST00000452319		976	cCc/cTc	0	not done		benign	
GLI2		inserm.fr	GRCh37	2	121748234	121748234	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000452319.1:c.4744C>T	p.Leu1582=	p.L1582=	ENST00000452319		1582	Ctg/Ttg	0	not done		synonymous	
SNCAIP		inserm.fr	GRCh37	5	121758654	121758654	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000261368.8:c.222C>T	p.Arg74=	p.R74=	ENST00000261368	NM_005460.2	74	cgC/cgT	0	not done		synonymous	
GJA1		inserm.fr	GRCh37	6	121768961	121768961	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1061T									Valid												ENST00000282561.3:c.968C>T	p.Ala323Val	p.A323V	ENST00000282561	NM_000165.3	323	gCg/gTg	0	validated		benign	
DBC1		inserm.fr	GRCh37	9	121929394	121929394	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000265922.3:c.2254C>A	p.Gln752Lys	p.Q752K	ENST00000265922	NM_014618.2	752	Cag/Aag	0	not done		possiblydamaging	
SCNN1D		inserm.fr	GRCh37	1	1219368	1219368	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1545T																					ENST00000379116.5:c.362G>T	p.Gly121Val	p.G121V	ENST00000379116	NM_001130413.3	121	gGc/gTc	0	not done		probablydamaging	
FEZF1		inserm.fr	GRCh37	7	121942078	121942078	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000442488.2:c.1401G>A	p.Gln467=	p.Q467=	ENST00000442488	NM_001160264.1	467	caG/caA	0	not done		synonymous	
FEZF1		inserm.fr	GRCh37	7	121944187	121944187	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1731T																					ENST00000442488.2:c.305C>A	p.Ala102Asp	p.A102D	ENST00000442488	NM_001160264.1	102	gCc/gAc	0	not done		benign	
DBC1		inserm.fr	GRCh37	9	121976292	121976292	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC301T									Valid												ENST00000265922.3:c.827G>A	p.Cys276Tyr	p.C276Y	ENST00000265922	NM_014618.2	276	tGc/tAc	0	validated		probablydamaging	
CASR		inserm.fr	GRCh37	3	121980670	121980670	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1545T																					ENST00000498619.1:c.788C>T	p.Thr263Met	p.T263M	ENST00000498619	NM_001178065.1	263	aCg/aTg	0	not done		probablydamaging	
CASR		inserm.fr	GRCh37	3	122002653	122002653	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1568T																					ENST00000498619.1:c.1882C>T	p.Leu628Phe	p.L628F	ENST00000498619	NM_001178065.1	628	Ctc/Ttc	0	not done		possiblydamaging	
SYN2		inserm.fr	GRCh37	3	12203617	12203617	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC465T									Valid												ENST00000432424.2:n.1115C>T		*372*	ENST00000432424				0	validated		probablydamaging	
STK11		inserm.fr	GRCh37	19	1220487	1220487	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM791T																					ENST00000326873.7:c.580G>T	p.Asp194Tyr	p.D194Y	ENST00000326873	NM_000455.4	194	Gac/Tac	0	validated		probablydamaging	
SNX24		inserm.fr	GRCh37	5	122181366	122181366	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM337T																					ENST00000261369.4:c.38G>T	p.Ser13Ile	p.S13I	ENST00000261369	NM_014035.2	13	aGc/aTc	0	validated		benign	
CLASP1		inserm.fr	GRCh37	2	122205084	122205084	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000263710.4:c.1742-1G>A		p.X581_splice	ENST00000263710	NM_015282.2			0	not done		damaging	
RHOF		inserm.fr	GRCh37	12	122231492	122231492	+	synonymous_variant	Silent	SNP	G	T	T			CHC327T																					ENST00000267205.2:c.48C>A	p.Gly16=	p.G16=	ENST00000267205	NM_019034.2	16	ggC/ggA	0	validated		synonymous	
PARP9		inserm.fr	GRCh37	3	122259427	122259427	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000360356.2:c.1762G>A	p.Gly588Arg	p.G588R	ENST00000360356	NM_001146102.1	588	Gga/Aga	0	validated		probablydamaging	
DTX3L		inserm.fr	GRCh37	3	122287476	122287476	+	synonymous_variant	Silent	SNP	C	T	T			CHC465T																					ENST00000296161.4:c.540C>T	p.Asp180=	p.D180=	ENST00000296161	NM_138287.3	180	gaC/gaT	0	validated		synonymous	
CLASP1		inserm.fr	GRCh37	2	122287860	122287860	+	synonymous_variant	Silent	SNP	G	T	T			CHC609T																					ENST00000263710.4:c.237C>A	p.Thr79=	p.T79=	ENST00000263710	NM_015282.2	79	acC/acA	0	validated		synonymous	
SYN2		inserm.fr	GRCh37	3	12229041	12229041	+	downstream_gene_variant	3'Flank	SNP	C	T	T			CHC892T																								ENST00000432424				0	not done		synonymous	
QRFPR		inserm.fr	GRCh37	4	122301646	122301646	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1192T																					ENST00000394427.2:c.157G>A	p.Val53Met	p.V53M	ENST00000394427	NM_198179.2	53	Gtg/Atg	0	not done		benign	
QRFPR		inserm.fr	GRCh37	4	122301648	122301648	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000394427.2:c.155G>A	p.Gly52Asp	p.G52D	ENST00000394427	NM_198179.2	52	gGc/gAc	0	not done		possiblydamaging	
PSMD9		inserm.fr	GRCh37	12	122337585	122337585	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000541212.1:c.287C>T	p.Ala96Val	p.A96V	ENST00000541212		96	gCc/gTc	0	not done		probablydamaging	
MICAL2		inserm.fr	GRCh37	11	12243226	12243226	+	synonymous_variant	Silent	SNP	C	T	T			CHC1601T																					ENST00000256194.4:c.1242C>T	p.Gly414=	p.G414=	ENST00000256194	NM_014632.2	414	ggC/ggT	0	not done		synonymous	
ZNF20		inserm.fr	GRCh37	19	12246624	12246624	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000334213.5:c.99G>A	p.Arg33=	p.R33=	ENST00000334213	NM_001203250.1	33	agG/agA	0	not done		synonymous	
CDC123		inserm.fr	GRCh37	10	12251983	12251983	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1712T																					ENST00000281141.4:c.164A>T	p.His55Leu	p.H55L	ENST00000281141	NM_006023.2	55	cAt/cTt	0	not done		benign	
CIDEA		inserm.fr	GRCh37	18	12254411	12254411	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000320477.9:c.29C>T	p.Ala10Val	p.A10V	ENST00000320477	NM_001279.3	10	gCc/gTc	0	not done		benign	
ZNF625		inserm.fr	GRCh37	19	12256914	12256914	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000439556.2:c.317G>A	p.Ser106Asn	p.S106N	ENST00000439556		106	aGc/aAc	0	not done		benign	
MLXIP		inserm.fr	GRCh37	12	122618336	122618336	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1629T																					ENST00000319080.7:c.1534C>T	p.His512Tyr	p.H512Y	ENST00000319080	NM_014938.4_dupl16	512	Cat/Tat	0	not done		possiblydamaging	
MLXIP		inserm.fr	GRCh37	12	122623396	122623396	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000319080.7:c.2419C>T	p.Pro807Ser	p.P807S	ENST00000319080	NM_014938.4_dupl16	807	Ccc/Tcc	0	not done		benign	
MLXIP		inserm.fr	GRCh37	12	122625628	122625628	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC1183T																					ENST00000319080.7:c.2636C>T	p.Pro879Leu	p.P879L	ENST00000319080	NM_014938.4_dupl16	879	cCg/cTg	0	not done		probablydamaging	
HAS2		inserm.fr	GRCh37	8	122627116	122627116	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC909T																					ENST00000303924.4:c.892G>A	p.Asp298Asn	p.D298N	ENST00000303924	NM_005328.2	298	Gat/Aat	0	not done		possiblydamaging	
SEMA5B		inserm.fr	GRCh37	3	122629072	122629072	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC304T									Valid												ENST00000451055.2:c.3536C>A	p.Thr1179Asn	p.T1179N	ENST00000451055	NM_001256347.1	1179	aCt/aAt	0	validated		probablydamaging	
SEMA5B		inserm.fr	GRCh37	3	122631750	122631750	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000451055.2:c.2827G>A	p.Gly943Ser	p.G943S	ENST00000451055	NM_001256347.1	943	Ggc/Agc	0	not done		probablydamaging	
UBASH3B		inserm.fr	GRCh37	11	122650281	122650281	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000284273.5:c.479C>T	p.Ala160Val	p.A160V	ENST00000284273	NM_032873.4	160	gCc/gTc	0	not done		benign	
UBASH3B		inserm.fr	GRCh37	11	122667665	122667665	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1028T																					ENST00000284273.5:c.1281G>T	p.Gln427His	p.Q427H	ENST00000284273	NM_032873.4	427	caG/caT	0	not done		possiblydamaging	
LRRC43		inserm.fr	GRCh37	12	122677337	122677337	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000339777.4:c.1135C>T	p.Pro379Ser	p.P379S	ENST00000339777	NM_152759.4	379	Cct/Tct	0	not done		benign	
LRRC43		inserm.fr	GRCh37	12	122677540	122677540	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000339777.4:c.1338C>T	p.Cys446=	p.C446=	ENST00000339777	NM_152759.4	446	tgC/tgT	0	not done		synonymous	
PP12613		inserm.fr	GRCh37	4	122687218	122687218	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2103T																					ENST00000424958.1:c.19G>T	p.Gly7Cys	p.G7C	ENST00000424958		7	Ggt/Tgt	0	not done			
CEP120		inserm.fr	GRCh37	5	122717804	122717804	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC2128T																					ENST00000306467.5:c.2103+1G>A		p.X701_splice	ENST00000306467				0	not done		damaging	
CCNA2		inserm.fr	GRCh37	4	122740714	122740714	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1775T																					ENST00000274026.5:c.815C>A	p.Pro272His	p.P272H	ENST00000274026	NM_001237.3	272	cCc/cAc	0	validated		probablydamaging	
HSF2		inserm.fr	GRCh37	6	122741302	122741302	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM321T																					ENST00000368455.4:c.616G>T	p.Gly206Ter	p.G206*	ENST00000368455	NM_004506.3	206	Gga/Tga	0	validated		damaging	
SERINC1		inserm.fr	GRCh37	6	122775025	122775025	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC197T									Valid												ENST00000339697.4:c.479C>A	p.Ala160Asp	p.A160D	ENST00000339697	NM_020755.2	160	gCc/gAc	0	validated		possiblydamaging	
THOC2		inserm.fr	GRCh37	X	122778629	122778629	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000245838.8:c.1559+1G>A		p.X520_splice	ENST00000245838	NM_001081550.1			0	not done		damaging	
C11orf63		inserm.fr	GRCh37	11	122805446	122805446	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1137T																					ENST00000227349.2:c.1297C>T	p.His433Tyr	p.H433Y	ENST00000227349	NM_024806.3	433	Cac/Tac	0	validated		benign	
MICAL2		inserm.fr	GRCh37	11	12281443	12281443	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	T	T			CHC1594T																					ENST00000256194.4:c.3333A>T	p.Pro1111=	p.P1111=	ENST00000256194	NM_014632.2	1111	ccA/ccT	0	not done		damaging	
CLIP1		inserm.fr	GRCh37	12	122826063	122826063	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000540338.1:c.1688G>A	p.Arg563His	p.R563H	ENST00000540338		563	cGt/cAt	0	validated		benign	
C11orf63		inserm.fr	GRCh37	11	122828162	122828162	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1756T																					ENST00000227349.2:c.2102A>T	p.Glu701Val	p.E701V	ENST00000227349	NM_024806.3	701	gAa/gTa	0	not done		benign	
TRPC3		inserm.fr	GRCh37	4	122828458	122828458	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			BCM617T																					ENST00000379645.3:c.2057C>A	p.Thr686Asn	p.T686N	ENST00000379645	NM_001130698.1	686	aCt/aAt	0	validated		probablydamaging	
CLIP1		inserm.fr	GRCh37	12	122837329	122837329	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC306T									Valid												ENST00000540338.1:c.1312G>A	p.Val438Ile	p.V438I	ENST00000540338		438	Gtt/Att	0	validated		probablydamaging	
TRPC3		inserm.fr	GRCh37	4	122853623	122853623	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1594T																					ENST00000379645.3:c.790G>A	p.Asp264Asn	p.D264N	ENST00000379645	NM_001130698.1	264	Gac/Aac	0	not done		probablydamaging	
TRPC3		inserm.fr	GRCh37	4	122853933	122853933	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000379645.3:c.480G>A	p.Leu160=	p.L160=	ENST00000379645	NM_001130698.1	160	ctG/ctA	0	not done		synonymous	
ADARB2		inserm.fr	GRCh37	10	1229239	1229239	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB325T																					ENST00000381312.1:c.2114C>A	p.Thr705Asn	p.T705N	ENST00000381312	NM_018702.3	705	aCc/aAc	0	validated		benign	
CSNK1G3		inserm.fr	GRCh37	5	122930817	122930817	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1137T																					ENST00000395412.1:c.1171G>T	p.Gly391Cys	p.G391C	ENST00000395412		391	Ggc/Tgc	0	not done		probablydamaging	
SEC22A		inserm.fr	GRCh37	3	122964745	122964745	+	splice_acceptor_variant	Splice_Site	SNP	G	T	T			CHC1629T																					ENST00000309934.4:c.542-1G>T		p.X181_splice	ENST00000309934	NM_012430.4			0	not done		possiblydamaging	
ZNF136		inserm.fr	GRCh37	19	12298496	12298496	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1191T																					ENST00000343979.4:c.1303A>T	p.Ile435Phe	p.I435F	ENST00000343979	NM_003437.3	435	Att/Ttt	0	not done		benign	
RSRC2		inserm.fr	GRCh37	12	123003576	123003576	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000331738.7:c.208G>A	p.Gly70Arg	p.G70R	ENST00000331738	NM_023012.5	70	Gga/Aga	0	not done		possiblydamaging	
ADCY5		inserm.fr	GRCh37	3	123021983	123021983	+	synonymous_variant	Silent	SNP	C	T	T			CHC796T																					ENST00000462833.1:c.2643G>A	p.Val881=	p.V881=	ENST00000462833	NM_183357.2	881	gtG/gtA	0	validated		synonymous	
ADCY5		inserm.fr	GRCh37	3	123023028	123023028	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	T	T			CHC1041T																					ENST00000462833.1:c.2445C>A	p.Leu815=	p.L815=	ENST00000462833	NM_183357.2	815	ctC/ctA	0	validated		synonymous	
KNTC1		inserm.fr	GRCh37	12	123105077	123105077	+	synonymous_variant	Silent	SNP	C	T	T			CHC703T																					ENST00000333479.7:c.6201C>T	p.Ile2067=	p.I2067=	ENST00000333479	NM_014708.4	2067	atC/atT	0	not done		synonymous	
BLTP1		inserm.fr	GRCh37	4	123107335	123107335	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1148T																					ENST00000264501.4:c.503C>T	p.Thr168Ile	p.T168I	ENST00000264501		168	aCa/aTa	0	not done		benign	
IQUB		inserm.fr	GRCh37	7	123109305	123109305	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000466202.1:c.1544G>A	p.Arg515Lys	p.R515K	ENST00000466202	NM_001282855.1	515	aGg/aAg	0	not done		probablydamaging	
BLTP1		inserm.fr	GRCh37	4	123140664	123140664	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1055T									Valid												ENST00000264501.4:c.2417G>T	p.Arg806Leu	p.R806L	ENST00000264501		806	cGt/cTt	0	validated		probablydamaging	
VPS13D		inserm.fr	GRCh37	1	12317054	12317054	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1602T																					ENST00000358136.3:c.851G>T	p.Arg284Leu	p.R284L	ENST00000358136	NM_015378.2	284	cGg/cTg	0	not done		probablydamaging	
STAG2		inserm.fr	GRCh37	X	123220503	123220503	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1725T																					ENST00000218089.9:c.3160G>T	p.Asp1054Tyr	p.D1054Y	ENST00000218089	NM_001042749.1	1054	Gat/Tat	0	not done		probablydamaging	
FGFR2		inserm.fr	GRCh37	10	123276903	123276903	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000358487.5:c.1014G>A	p.Gly338=	p.G338=	ENST00000358487	NM_000141.4	338	ggG/ggA	0	not done		synonymous	
CDK5RAP2		inserm.fr	GRCh37	9	123291029	123291029	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000349780.4:c.872G>A	p.Arg291Lys	p.R291K	ENST00000349780	NM_018249.5	291	aGg/aAg	0	not done		benign	
CLVS2		inserm.fr	GRCh37	6	123318946	123318946	+	synonymous_variant	Silent	SNP	C	T	T			CHC1714T																					ENST00000275162.5:c.24C>T	p.Leu8=	p.L8=	ENST00000275162	NM_001010852.3	8	ctC/ctT	0	not done		synonymous	
WASL		inserm.fr	GRCh37	7	123332529	123332529	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1720T																					ENST00000223023.4:c.1219G>A	p.Ala407Thr	p.A407T	ENST00000223023	NM_003941.3	407	Gca/Aca	0	not done		probablydamaging	
MYLK		inserm.fr	GRCh37	3	123348423	123348423	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1137T																					ENST00000360304.3:c.5012C>A	p.Ala1671Asp	p.A1671D	ENST00000360304	NM_053025.3	1671	gCc/gAc	0	validated		probablydamaging	
VPS13D		inserm.fr	GRCh37	1	12337573	12337573	+	synonymous_variant	Silent	SNP	C	T	T			CHC433T																					ENST00000358136.3:c.3928C>T	p.Leu1310=	p.L1310=	ENST00000358136	NM_015378.2	1310	Ctg/Ttg	0	validated		synonymous	
VPS13D		inserm.fr	GRCh37	1	12339651	12339651	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM545T																					ENST00000358136.3:c.4546G>T	p.Asp1516Tyr	p.D1516Y	ENST00000358136	NM_015378.2	1516	Gac/Tac	0	validated		benign	
VPS13D		inserm.fr	GRCh37	1	12342971	12342971	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1594T																					ENST00000358136.3:c.4812G>T	p.Gln1604His	p.Q1604H	ENST00000358136	NM_015378.2	1604	caG/caT	0	not done		probablydamaging	
SCN3B		inserm.fr	GRCh37	11	123508894	123508894	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1738T																					ENST00000392770.2:c.584C>A	p.Ala195Glu	p.A195E	ENST00000392770	NM_018400.3	195	gCg/gAg	0	not done		damaging	
TENM1		inserm.fr	GRCh37	X	123539010	123539010	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000422452.2:c.5262G>A	p.Gly1754=	p.G1754=	ENST00000422452	NM_001163279.1	1754	ggG/ggA	0	not done		synonymous	
PSMD5		inserm.fr	GRCh37	9	123578053	123578053	+	downstream_gene_variant	3'Flank	SNP	A	T	T			BCB109T																								ENST00000210313	NM_005047.3			0	validated			
PSMD5		inserm.fr	GRCh37	9	123580245	123580245	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCB325T									Valid												ENST00000210313.3:c.1454T>A	p.Leu485Gln	p.L485Q	ENST00000210313	NM_005047.3	485	cTg/cAg	0	validated		probablydamaging	
ZNF202		inserm.fr	GRCh37	11	123596906	123596906	+	synonymous_variant	Silent	SNP	C	T	T			CHC798T																					ENST00000336139.4:c.1746G>A	p.Lys582=	p.K582=	ENST00000336139		582	aaG/aaA	0	validated		synonymous	
PHF19		inserm.fr	GRCh37	9	123631474	123631474	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1545T																					ENST00000373896.3:c.600C>A	p.Cys200Ter	p.C200*	ENST00000373896	NM_015651.1	200	tgC/tgA	0	not done		damaging	
VPS13D		inserm.fr	GRCh37	1	12364632	12364632	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1743T																					ENST00000358136.3:c.6286G>T	p.Glu2096Ter	p.E2096*	ENST00000358136	NM_015378.2	2096	Gag/Tag	0	not done		damaging	
TENM1		inserm.fr	GRCh37	X	123663750	123663750	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000422452.2:c.2735G>A	p.Ser912Asn	p.S912N	ENST00000422452	NM_001163279.1	912	aGt/aAt	0	not done		benign	
CCDC14		inserm.fr	GRCh37	3	123667624	123667624	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000433542.2:c.619G>A	p.Ala207Thr	p.A207T	ENST00000433542	NM_022757.4	207	Gca/Aca	0	not done		benign	
TMEM229A		inserm.fr	GRCh37	7	123672456	123672456	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000455783.1:c.602G>A	p.Arg201Gln	p.R201Q	ENST00000455783	NM_001136002.1	201	cGg/cAg	0	not done		benign	
MPHOSPH9		inserm.fr	GRCh37	12	123687565	123687565	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T																					ENST00000392425.3:c.931G>A	p.Gly311Ser	p.G311S	ENST00000392425		311	Ggc/Agc	0	validated		benign	
MPHOSPH9		inserm.fr	GRCh37	12	123705951	123705951	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000392425.3:c.384G>A	p.Lys128=	p.K128=	ENST00000392425		128	aaG/aaA	0	not done		synonymous	
MPHOSPH9		inserm.fr	GRCh37	12	123706199	123706199	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000392425.3:c.136G>A	p.Gly46Arg	p.G46R	ENST00000392425		46	Gga/Aga	0	not done		probablydamaging	
TMEM225		inserm.fr	GRCh37	11	123754038	123754038	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375026.2:c.485G>A	p.Cys162Tyr	p.C162Y	ENST00000375026	NM_001013743.1	162	tGc/tAc	0	not done		benign	
OR8D4		inserm.fr	GRCh37	11	123777554	123777554	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1725T																					ENST00000321355.2:c.416G>T	p.Arg139Met	p.R139M	ENST00000321355	NM_001005197.1	139	aGg/aTg	0	not done		possiblydamaging	
OR4D5		inserm.fr	GRCh37	11	123810941	123810941	+	synonymous_variant	Silent	SNP	G	T	T			CHC2112T																					ENST00000307033.2:c.618G>T	p.Val206=	p.V206=	ENST00000307033	NM_001001965.1	206	gtG/gtT	0	not done		synonymous	
SBNO1		inserm.fr	GRCh37	12	123812318	123812318	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB109T									Valid												ENST00000420886.2:c.1474G>A	p.Gly492Ser	p.G492S	ENST00000420886	NM_001167856.1	492	Ggc/Agc	0	validated		probablydamaging	
OR6T1		inserm.fr	GRCh37	11	123813760	123813760	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2099T																					ENST00000321252.2:c.786G>A	p.Met262Ile	p.M262I	ENST00000321252	NM_001005187.1	262	atG/atA	0	not done		benign	
TRDN		inserm.fr	GRCh37	6	123824984	123824984	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000398178.3:c.673G>A	p.Gly225Arg	p.G225R	ENST00000398178	NM_006073.3	225	Gga/Aga	0	not done		possiblydamaging	
TENM1		inserm.fr	GRCh37	X	123839067	123839067	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000422452.2:c.811G>A	p.Ala271Thr	p.A271T	ENST00000422452	NM_001163279.1	271	Gcg/Acg	0	not done		probablydamaging	
TACC2		inserm.fr	GRCh37	10	123842638	123842638	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC703T																					ENST00000369005.1:c.623C>T	p.Pro208Leu	p.P208L	ENST00000369005	NM_206862.2	208	cCa/cTa	0	validated		probablydamaging	
TACC2		inserm.fr	GRCh37	10	123844360	123844360	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM275T									Valid												ENST00000369005.1:c.2345C>T	p.Pro782Leu	p.P782L	ENST00000369005	NM_206862.2	782	cCc/cTc	0	validated		possiblydamaging	
SPATA5		inserm.fr	GRCh37	4	123859324	123859324	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1751T																					ENST00000274008.4:c.1378C>T	p.Pro460Ser	p.P460S	ENST00000274008	NM_145207.2	460	Ccg/Tcg	0	not done		probablydamaging	
OR10G9		inserm.fr	GRCh37	11	123893773	123893773	+	synonymous_variant	Silent	SNP	C	T	T			CHC2115T																					ENST00000375024.1:c.54C>T	p.Ala18=	p.A18=	ENST00000375024	NM_001001953.1	18	gcC/gcT	0	not done		synonymous	
RILPL2		inserm.fr	GRCh37	12	123915196	123915196	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000280571.8:c.350G>A	p.Gly117Asp	p.G117D	ENST00000280571	NM_145058.1	117	gGc/gAc	0	not done		probablydamaging	
CNTRL		inserm.fr	GRCh37	9	123937349	123937349	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1594T																					ENST00000373855.1:c.6801G>T	p.Lys2267Asn	p.K2267N	ENST00000373855		2267	aaG/aaT	0	not done		possiblydamaging	
ACAP3		inserm.fr	GRCh37	1	1239522	1239522	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000354700.5:c.49G>A	p.Ala17Thr	p.A17T	ENST00000354700	NM_030649.2	17	Gcg/Acg	0	not done		probablydamaging	
ZNF608		inserm.fr	GRCh37	5	123980113	123980113	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM695T																					ENST00000306315.5:c.3947G>A	p.Arg1316Gln	p.R1316Q	ENST00000306315	NM_020747.2	1316	cGa/cAa	0	validated		benign	
ZNF608		inserm.fr	GRCh37	5	123980178	123980178	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000306315.5:c.3882G>A	p.Glu1294=	p.E1294=	ENST00000306315	NM_020747.2	1294	gaG/gaA	0	not done		synonymous	
KALRN		inserm.fr	GRCh37	3	123983428	123983428	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1154T																					ENST00000240874.3:c.341C>T	p.Thr114Met	p.T114M	ENST00000240874	NM_003947.4	114	aCg/aTg	0	not done		probablydamaging	
VWA5A		inserm.fr	GRCh37	11	124007764	124007764	+	synonymous_variant	Silent	SNP	C	T	T			CHC2206T																					ENST00000456829.2:c.1668C>T	p.Thr556=	p.T556=	ENST00000456829	NM_001130142.1	556	acC/acT	0	not done		synonymous	
VWA5A		inserm.fr	GRCh37	11	124007835	124007835	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1183T																					ENST00000456829.2:c.1739G>T	p.Gly580Val	p.G580V	ENST00000456829	NM_001130142.1	580	gGt/gTt	0	not done		probablydamaging	
RILPL1		inserm.fr	GRCh37	12	124017972	124017972	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1616T																					ENST00000376874.4:c.58G>A	p.Ala20Thr	p.A20T	ENST00000376874	NM_178314.3	20	Gcc/Acc	0	not done		benign	
OR10D3		inserm.fr	GRCh37	11	124056341	124056341	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1626T																					ENST00000318666.6:c.365G>T	p.Arg122Leu	p.R122L	ENST00000318666		122	cGc/cTc	0	not done			
VWDE		inserm.fr	GRCh37	7	12406995	12406995	+	synonymous_variant	Silent	SNP	A	T	T			CHC1183T																					ENST00000275358.3:c.2886T>A	p.Val962=	p.V962=	ENST00000275358	NM_001135924.1	962	gtT/gtA	0	not done		synonymous	
KALRN		inserm.fr	GRCh37	3	124103818	124103818	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM617T																					ENST00000240874.3:c.1891C>T	p.Arg631Cys	p.R631C	ENST00000240874	NM_003947.4	631	Cgc/Tgc	0	validated		probablydamaging	
STOM		inserm.fr	GRCh37	9	124118405	124118405	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM695T																					ENST00000286713.2:c.91G>A	p.Gly31Arg	p.G31R	ENST00000286713	NM_004099.5	31	Gga/Aga	0	validated		probablydamaging	
TBC1D31		inserm.fr	GRCh37	8	124121612	124121612	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC205T									Valid												ENST00000287380.1:c.1265A>T	p.Tyr422Phe	p.Y422F	ENST00000287380	NM_145647.3	422	tAt/tTt	0	not done		benign	
PLEKHA1		inserm.fr	GRCh37	10	124189275	124189275	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC2127T																					ENST00000368990.3:c.1036G>T	p.Glu346Ter	p.E346*	ENST00000368990	NM_001001974.2	346	Gag/Tag	0	not done		damaging	
FAM83A		inserm.fr	GRCh37	8	124219608	124219608	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM483T																					ENST00000518448.1:c.985C>T	p.Arg329Cys	p.R329C	ENST00000518448		329	Cgc/Tgc	0	validated		probablydamaging	
HTRA1		inserm.fr	GRCh37	10	124221276	124221276	+	synonymous_variant	Silent	SNP	G	T	T			BCB325T																					ENST00000368984.3:c.108G>T	p.Gly36=	p.G36=	ENST00000368984	NM_002775.4	36	ggG/ggT	0	validated		synonymous	
ZHX1		inserm.fr	GRCh37	8	124265580	124265580	+	synonymous_variant	Silent	SNP	A	T	T			CHC1545T																					ENST00000395571.3:c.2607T>A	p.Ser869=	p.S869=	ENST00000395571	NM_007222.4	869	tcT/tcA	0	not done		synonymous	
ZHX1		inserm.fr	GRCh37	8	124265860	124265860	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC205T									Valid												ENST00000395571.3:c.2327T>A	p.Ile776Lys	p.I776K	ENST00000395571	NM_007222.4	776	aTa/aAa	0	validated		probablydamaging	
OR8B8		inserm.fr	GRCh37	11	124310070	124310070	+	synonymous_variant	Silent	SNP	G	T	T			BCM567T																					ENST00000328064.2:c.912C>A	p.Ile304=	p.I304=	ENST00000328064	NM_012378.1	304	atC/atA	0	validated		synonymous	
OR8B8		inserm.fr	GRCh37	11	124310446	124310446	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC304T									Valid												ENST00000328064.2:c.536G>A	p.Cys179Tyr	p.C179Y	ENST00000328064	NM_012378.1	179	tGt/tAt	0	validated		probablydamaging	
ATAD2		inserm.fr	GRCh37	8	124338148	124338148	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC884T									Valid												ENST00000287394.5:c.3987T>A	p.Asp1329Glu	p.D1329E	ENST00000287394	NM_014109.3	1329	gaT/gaA	0	validated		probablydamaging	
DMBT1		inserm.fr	GRCh37	10	124344797	124344797	+	synonymous_variant	Silent	SNP	G	T	T			CHC1148T																					ENST00000368909.3:c.1431G>T	p.Pro477=	p.P477=	ENST00000368909	NM_007329.2	477	ccG/ccT	0	not done		synonymous	
ATAD2		inserm.fr	GRCh37	8	124358972	124358972	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1775T																					ENST00000287394.5:c.2231T>A	p.Leu744Gln	p.L744Q	ENST00000287394	NM_014109.3	744	cTa/cAa	0	validated		possiblydamaging	
DNAH10		inserm.fr	GRCh37	12	124359895	124359895	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC303T																					ENST00000409039.3:c.7702A>T	p.Ile2568Phe	p.I2568F	ENST00000409039	NM_207437.3	2568	Att/Ttt	0	validated		benign	
GPR37		inserm.fr	GRCh37	7	124387175	124387175	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000303921.2:c.1246G>A	p.Ala416Thr	p.A416T	ENST00000303921	NM_005302.3	416	Gca/Aca	0	not done		benign	
DMBT1		inserm.fr	GRCh37	10	124395568	124395568	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000368909.3:c.6223C>T	p.Pro2075Ser	p.P2075S	ENST00000368909	NM_007329.2	2075	Cct/Tct	0	not done		probablydamaging	
OR8A1		inserm.fr	GRCh37	11	124440931	124440931	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM543T																					ENST00000284287.3:c.967G>T	p.Gly323Cys	p.G323C	ENST00000284287	NM_001005194.1	323	Ggt/Tgt	0	validated		benign	
LOC100129520		inserm.fr	GRCh37	X	124456627	124456627	+	downstream_gene_variant	3'Flank	SNP	C	T	T			CHC892T																								ENST00000394467				0	not done		damaging	
C10orf120		inserm.fr	GRCh37	10	124457560	124457560	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000329446.4:c.697G>A	p.Gly233Arg	p.G233R	ENST00000329446	NM_001010912.2	233	Gga/Aga	0	not done		benign	
UMPS		inserm.fr	GRCh37	3	124458917	124458917	+	synonymous_variant	Silent	SNP	C	T	T			BCB167T																					ENST00000232607.2:c.1029C>T	p.His343=	p.H343=	ENST00000232607	NM_000373.3	343	caC/caT	0	validated		synonymous	
UMPS		inserm.fr	GRCh37	3	124458972	124458972	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC703T																					ENST00000232607.2:c.1084C>T	p.His362Tyr	p.H362Y	ENST00000232607	NM_000373.3	362	Cat/Tat	0	validated		probablydamaging	
PANX3		inserm.fr	GRCh37	11	124481462	124481462	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC794T																					ENST00000284288.2:c.10G>T	p.Ala4Ser	p.A4S	ENST00000284288	NM_052959.2	4	Gca/Tca	0	validated		possiblydamaging	
PANX3		inserm.fr	GRCh37	11	124482883	124482883	+	synonymous_variant	Silent	SNP	G	T	T			CHC1531T																					ENST00000284288.2:c.189G>T	p.Pro63=	p.P63=	ENST00000284288	NM_052959.2	63	ccG/ccT	0	not done		synonymous	
TBRG1		inserm.fr	GRCh37	11	124493008	124493008	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1185T																					ENST00000441174.3:c.29C>T	p.Ser10Leu	p.S10L	ENST00000441174	NM_032811.2	10	tCg/tTg	0	not done		benign	
DAB2IP		inserm.fr	GRCh37	9	124535571	124535571	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T									Valid												ENST00000259371.2:c.2680C>T	p.Pro894Ser	p.P894S	ENST00000259371	NM_032552.2	894	Ccc/Tcc	0	validated		possiblydamaging	
ITGB5		inserm.fr	GRCh37	3	124578142	124578142	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000296181.4:c.308G>A	p.Gly103Asp	p.G103D	ENST00000296181	NM_002213.3	103	gGc/gAc	0	not done		benign	
SLC6A18		inserm.fr	GRCh37	5	1246008	1246008	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000324642.3:c.1702C>T	p.Arg568Cys	p.R568C	ENST00000324642	NM_182632.2	568	Cgc/Tgc	0	validated		probablydamaging	
VSIG2		inserm.fr	GRCh37	11	124621462	124621462	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000326621.5:c.76G>A	p.Val26Met	p.V26M	ENST00000326621	NM_014312.3	26	Gtg/Atg	0	not done		probablydamaging	
MUC13		inserm.fr	GRCh37	3	124630978	124630978	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2321T									Valid												ENST00000311075.3:c.1222G>A	p.Gly408Ser	p.G408S	ENST00000311075	NM_033049.3	408	Ggc/Agc	0	validated		probablydamaging	
MSANTD2		inserm.fr	GRCh37	11	124637715	124637715	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000239614.4:c.881G>A	p.Arg294Gln	p.R294Q	ENST00000239614	NM_024631.2	294	cGg/cAg	0	not done		probablydamaging	
ANXA13		inserm.fr	GRCh37	8	124710665	124710665	+	synonymous_variant	Silent	SNP	G	T	T			CHC1598T																					ENST00000262219.6:c.444C>A	p.Ser148=	p.S148=	ENST00000262219	NM_001003954.1	148	tcC/tcA	0	not done		synonymous	
HEG1		inserm.fr	GRCh37	3	124724108	124724108	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000311127.4:c.3297+1G>A		p.X1099_splice	ENST00000311127	NM_020733.1			0	not done		damaging	
PSTK		inserm.fr	GRCh37	10	124740209	124740209	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC884T																					ENST00000368887.3:c.214G>T	p.Ala72Ser	p.A72S	ENST00000368887	NM_153336.2	72	Gcg/Tcg	0	validated		benign	
ROBO4		inserm.fr	GRCh37	11	124761355	124761355	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000306534.3:c.1788G>A	p.Arg596=	p.R596=	ENST00000306534	NM_019055.5	596	agG/agA	0	not done		synonymous	
ROBO4		inserm.fr	GRCh37	11	124766971	124766971	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000306534.3:c.257G>A	p.Gly86Glu	p.G86E	ENST00000306534	NM_019055.5	86	gGg/gAg	0	not done		probablydamaging	
CNTNAP5		inserm.fr	GRCh37	2	124783255	124783255	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2200T																					ENST00000431078.1:c.28G>T	p.Val10Phe	p.V10F	ENST00000431078	NM_130773.3	10	Gtt/Ttt	0	not done		possiblydamaging	
SLC12A8		inserm.fr	GRCh37	3	124807168	124807168	+	synonymous_variant	Silent	SNP	C	T	T			CHC2128T																					ENST00000393469.4:c.1968G>A	p.Leu656=	p.L656=	ENST00000393469	NM_001195483.1	656	ttG/ttA	0	not done		synonymous	
NCOR2		inserm.fr	GRCh37	12	124810907	124810907	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC898T																					ENST00000405201.1:c.7193G>A	p.Gly2398Glu	p.G2398E	ENST00000405201		2398	gGg/gAg	0	not done		possiblydamaging	
SLC12A8		inserm.fr	GRCh37	3	124826798	124826798	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC361TA																					ENST00000393469.4:c.1232G>A	p.Ser411Asn	p.S411N	ENST00000393469	NM_001195483.1	411	aGc/aAc	0	validated		benign	
SLC12A8		inserm.fr	GRCh37	3	124829035	124829035	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000393469.4:c.1057G>A	p.Gly353Arg	p.G353R	ENST00000393469	NM_001195483.1	353	Ggg/Agg	0	not done		probablydamaging	
NCOR2		inserm.fr	GRCh37	12	124831217	124831217	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000405201.1:c.4252G>A	p.Val1418Met	p.V1418M	ENST00000405201		1418	Gtg/Atg	0	not done		probablydamaging	
HMX3		inserm.fr	GRCh37	10	124895837	124895837	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000357878.5:c.271C>T	p.Leu91=	p.L91=	ENST00000357878	NM_001105574.1	91	Ctg/Ttg	0	not done		synonymous	
SLC12A8		inserm.fr	GRCh37	3	124896611	124896611	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000393469.4:c.598G>A	p.Gly200Ser	p.G200S	ENST00000393469	NM_001195483.1	200	Ggt/Agt	0	not done		probablydamaging	
MORN5		inserm.fr	GRCh37	9	124931942	124931942	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000373764.3:c.214G>T	p.Asp72Tyr	p.D72Y	ENST00000373764	NM_198469.2	72	Gat/Tat	0	not done		probablydamaging	
FER1L6		inserm.fr	GRCh37	8	124987425	124987425	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1602T																					ENST00000522917.1:c.562G>T	p.Asp188Tyr	p.D188Y	ENST00000522917	NM_001039112.2	188	Gac/Tac	0	validated		possiblydamaging	
RP11-687M24.4		inserm.fr	GRCh37	11	125003034	125003034	+	non_coding_transcript_exon_variant	RNA	SNP	G	T	T			CHC1741T																					ENST00000525429.1:n.302C>A		*101*	ENST00000525429				0	validated		damaging	
FER1L6		inserm.fr	GRCh37	8	125052210	125052210	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000522917.1:c.2552C>T	p.Ala851Val	p.A851V	ENST00000522917	NM_001039112.2	851	gCc/gTc	0	not done		probablydamaging	
PTGS1		inserm.fr	GRCh37	9	125152552	125152552	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM399T									Valid												ENST00000362012.2:c.1372C>T	p.Arg458Trp	p.R458W	ENST00000362012	NM_000962.3	458	Cgg/Tgg	0	validated		probablydamaging	
VPS13D		inserm.fr	GRCh37	1	12520327	12520327	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1601T																					ENST00000358136.3:c.12538G>T	p.Gly4180Cys	p.G4180C	ENST00000358136	NM_015378.2	4180	Ggt/Tgt	0	not done		probablydamaging	
SNX4		inserm.fr	GRCh37	3	125216677	125216677	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000251775.4:c.549+1G>A		p.X183_splice	ENST00000251775	NM_003794.3			0	not done		damaging	
DCAF12L2		inserm.fr	GRCh37	X	125299237	125299237	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM399T									Valid												ENST00000538699.1:c.671C>A	p.Pro224Gln	p.P224Q	ENST00000538699	NM_001013628.2	224	cCa/cAa	0	validated		probablydamaging	
OR1N2		inserm.fr	GRCh37	9	125315691	125315691	+	synonymous_variant	Silent	SNP	C	T	T			BCM275T																					ENST00000373688.2:c.243C>T	p.Ala81=	p.A81=	ENST00000373688	NM_001004457.1	81	gcC/gcT	0	validated		synonymous	
OR1N2		inserm.fr	GRCh37	9	125315992	125315992	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1545T																					ENST00000373688.2:c.544C>T	p.Arg182Cys	p.R182C	ENST00000373688	NM_001004457.1	182	Cgc/Tgc	0	not done		possiblydamaging	
OR1Q1		inserm.fr	GRCh37	9	125377915	125377915	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1600T																					ENST00000297913.2:c.899G>T	p.Gly300Val	p.G300V	ENST00000297913	NM_012364.1	300	gGc/gTc	0	not done		benign	
TERT		inserm.fr	GRCh37	5	1253915	1253915	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000310581.5:c.3327G>A	p.Gly1109=	p.G1109=	ENST00000310581	NM_198253.2	1109	ggG/ggA	0	not done		synonymous	
OR1L1		inserm.fr	GRCh37	9	125424910	125424910	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC898T																					ENST00000309623.1:c.916A>T	p.Arg306Trp	p.R306W	ENST00000309623	NM_001005236.3	306	Agg/Tgg	0	not done		probablydamaging	
MUC5B		inserm.fr	GRCh37	11	1254395	1254395	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000529681.1:c.2218C>T	p.Leu740Phe	p.L740F	ENST00000529681	NM_002458.2	740	Ctc/Ttc	0	not done		probablydamaging	
TSEN2		inserm.fr	GRCh37	3	12545249	12545249	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000284995.6:c.797C>T	p.Ala266Val	p.A266V	ENST00000284995	NM_025265.3	266	gCc/gTc	0	validated		benign	
TRMT12		inserm.fr	GRCh37	8	125463467	125463467	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM671T																					ENST00000328599.3:c.299G>T	p.Gly100Val	p.G100V	ENST00000328599	NM_017956.3	100	gGt/gTt	0	validated		benign	
BRI3BP		inserm.fr	GRCh37	12	125478412	125478412	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2115T																					ENST00000341446.8:c.76G>T	p.Gly26Trp	p.G26W	ENST00000341446	NM_080626.5	26	Ggg/Tgg	0	not done		benign	
CPXM2		inserm.fr	GRCh37	10	125521686	125521686	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000241305.3:c.1480-1G>A		p.X494_splice	ENST00000241305	NM_198148.2			0	not done		damaging	
MTSS1		inserm.fr	GRCh37	8	125565509	125565509	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1595T																					ENST00000518547.1:c.1992G>A	p.Met664Ile	p.M664I	ENST00000518547	NM_014751.4	664	atG/atA	0	validated		benign	
RC3H2		inserm.fr	GRCh37	9	125612060	125612060	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000373670.1:c.3422G>A	p.Ser1141Asn	p.S1141N	ENST00000373670		1141	aGc/aAc	0	not done		benign	
AACS		inserm.fr	GRCh37	12	125626643	125626643	+	synonymous_variant	Silent	SNP	G	T	T			CHC451T																					ENST00000316519.6:c.1887G>T	p.Thr629=	p.T629=	ENST00000316519	NM_023928.3	629	acG/acT	0	not done		synonymous	
CPXM2		inserm.fr	GRCh37	10	125651094	125651094	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000241305.3:c.82G>A	p.Ala28Thr	p.A28T	ENST00000241305	NM_198148.2	28	Gca/Aca	0	not done		benign	
VPS13D		inserm.fr	GRCh37	1	12567009	12567009	+	synonymous_variant	Silent	SNP	C	T	T			CHC1053T																					ENST00000358136.3:c.12897C>T	p.Phe4299=	p.F4299=	ENST00000358136	NM_015378.2	4299	ttC/ttT	0	validated		synonymous	
DCAF12L1		inserm.fr	GRCh37	X	125685588	125685588	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC891T																					ENST00000371126.1:c.1004G>A	p.Arg335His	p.R335H	ENST00000371126	NM_178470.4	335	cGc/cAc	0	not done		probablydamaging	
DCAF12L1		inserm.fr	GRCh37	X	125686282	125686282	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1715T																					ENST00000371126.1:c.310C>A	p.Gln104Lys	p.Q104K	ENST00000371126	NM_178470.4	104	Cag/Aag	0	not done		probablydamaging	
DCAF12L1		inserm.fr	GRCh37	X	125686403	125686403	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371126.1:c.189G>A	p.Trp63Ter	p.W63*	ENST00000371126	NM_178470.4	63	tgG/tgA	0	not done		damaging	
DCAF12L1		inserm.fr	GRCh37	X	125686406	125686406	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000371126.1:c.186G>A	p.Gly62=	p.G62=	ENST00000371126	NM_178470.4	62	ggG/ggA	0	not done		synonymous	
ROPN1B		inserm.fr	GRCh37	3	125701223	125701223	+	synonymous_variant	Silent	SNP	C	T	T			CHC1746T																					ENST00000514116.1:c.507C>T	p.Ala169=	p.A169=	ENST00000514116		169	gcC/gcT	0	not done		synonymous	
GRAMD3		inserm.fr	GRCh37	5	125801196	125801196	+	synonymous_variant	Silent	SNP	G	T	T			CHC218T																					ENST00000513040.1:c.207G>T	p.Val69=	p.V69=	ENST00000513040	NM_001146319.1	69	gtG/gtT	0	not done		synonymous	
CHST15		inserm.fr	GRCh37	10	125805355	125805355	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000346248.5:c.374G>A	p.Ser125Asn	p.S125N	ENST00000346248	NM_015892.4	125	aGc/aAc	0	not done		benign	
CHST15		inserm.fr	GRCh37	10	125805428	125805428	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000346248.5:c.301G>A	p.Ala101Thr	p.A101T	ENST00000346248	NM_015892.4	101	Gcc/Acc	0	not done		benign	
CDON		inserm.fr	GRCh37	11	125853783	125853783	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000392693.3:c.2979G>A	p.Gln993=	p.Q993=	ENST00000392693	NM_001243597.1	993	caG/caA	0	not done		synonymous	
ALDH1L1		inserm.fr	GRCh37	3	125877415	125877415	+	synonymous_variant	Silent	SNP	A	T	T			CHC798T																					ENST00000273450.3:c.225T>A	p.Ala75=	p.A75=	ENST00000273450	NM_001270364.1	75	gcT/gcA	0	validated		synonymous	
CACNA1H		inserm.fr	GRCh37	16	1260093	1260093	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2206T																					ENST00000348261.5:c.3803G>T	p.Ser1268Ile	p.S1268I	ENST00000348261	NM_021098.2	1268	aGc/aTc	0	validated		benign	
TMEM132B		inserm.fr	GRCh37	12	126068470	126068470	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC912T																					ENST00000299308.3:c.1352A>T	p.Gln451Leu	p.Q451L	ENST00000299308	NM_052907.2	451	cAg/cTg	0	validated		possiblydamaging	
RPUSD4		inserm.fr	GRCh37	11	126075452	126075452	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T																					ENST00000298317.4:c.707G>A	p.Arg236His	p.R236H	ENST00000298317	NM_032795.2	236	cGc/cAc	0	validated		benign	
SCIN		inserm.fr	GRCh37	7	12610447	12610447	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1531T																					ENST00000297029.5:c.35G>T	p.Arg12Leu	p.R12L	ENST00000297029	NM_001112706.2	12	cGg/cTg	0	not done		benign	
CRB2		inserm.fr	GRCh37	9	126118563	126118563	+	synonymous_variant	Silent	SNP	C	T	T			CHC2098T																					ENST00000373631.3:c.24C>T	p.Thr8=	p.T8=	ENST00000373631	NM_173689.5	8	acC/acT	0	not done		synonymous	
CRB2		inserm.fr	GRCh37	9	126128293	126128293	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000373631.3:c.516C>T	p.Cys172=	p.C172=	ENST00000373631	NM_173689.5	172	tgC/tgT	0	not done		synonymous	
CRB2		inserm.fr	GRCh37	9	126132492	126132492	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000373631.3:c.1160C>T	p.Thr387Ile	p.T387I	ENST00000373631	NM_173689.5	387	aCc/aTc	0	not done		benign	
NKX1-2		inserm.fr	GRCh37	10	126136406	126136406	+	synonymous_variant	Silent	SNP	C	T	T			CHC1154T																					ENST00000451024.3:c.525G>A	p.Leu175=	p.L175=	ENST00000451024	NM_001146340.1	175	ctG/ctA	0	not done		synonymous	
DENND1A		inserm.fr	GRCh37	9	126144580	126144580	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM695T																					ENST00000373624.2:c.2161C>A	p.Pro721Thr	p.P721T	ENST00000373624	NM_020946.1	721	Ccg/Acg	0	validated		benign	
DENND1A		inserm.fr	GRCh37	9	126144679	126144679	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1061T									Valid												ENST00000373624.2:c.2062G>A	p.Glu688Lys	p.E688K	ENST00000373624	NM_020946.1	688	Gag/Aag	0	validated		probablydamaging	
CACNA1H		inserm.fr	GRCh37	16	1261501	1261501	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000348261.5:c.4371C>T	p.Tyr1457=	p.Y1457=	ENST00000348261	NM_021098.2	1457	taC/taT	0	not done		synonymous	
MUC5B		inserm.fr	GRCh37	11	1261502	1261502	+	synonymous_variant	Silent	SNP	C	T	T			CHC796T																					ENST00000529681.1:c.3867C>T	p.Cys1289=	p.C1289=	ENST00000529681	NM_002458.2	1289	tgC/tgT	0	validated		synonymous	
MKRN2		inserm.fr	GRCh37	3	12616368	12616368	+	synonymous_variant	Silent	SNP	C	T	T			CHC879T																					ENST00000170447.7:c.720C>T	p.Ile240=	p.I240=	ENST00000170447	NM_014160.4	240	atC/atT	0	not done		synonymous	
DCPS		inserm.fr	GRCh37	11	126176581	126176581	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC258T																					ENST00000263579.4:c.318G>T	p.Leu106Phe	p.L106F	ENST00000263579	NM_014026.3	106	ttG/ttT	0	validated		possiblydamaging	
UROC1		inserm.fr	GRCh37	3	126224807	126224807	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000383579.3:c.650G>A	p.Gly217Glu	p.G217E	ENST00000383579	NM_001165974.1	217	gGa/gAa	0	not done		probablydamaging	
FAT4		inserm.fr	GRCh37	4	126238653	126238653	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000394329.3:c.1087C>T	p.Arg363Cys	p.R363C	ENST00000394329	NM_024582.4	363	Cgc/Tgc	0	validated		probablydamaging	
FAT4		inserm.fr	GRCh37	4	126241104	126241104	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1591T																					ENST00000394329.3:c.3538A>T	p.Ile1180Leu	p.I1180L	ENST00000394329	NM_024582.4	1180	Ata/Tta	0	not done		benign	
GRM8		inserm.fr	GRCh37	7	126249516	126249516	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000339582.2:c.1394G>A	p.Gly465Glu	p.G465E	ENST00000339582		465	gGa/gAa	0	not done		probablydamaging	
MUC5B		inserm.fr	GRCh37	11	1262809	1262809	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1207T																					ENST00000529681.1:c.4699C>T	p.His1567Tyr	p.H1567Y	ENST00000529681	NM_002458.2	1567	Cac/Tac	0	not done		benign	
ADARB2		inserm.fr	GRCh37	10	1262902	1262902	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC884T									Valid												ENST00000381312.1:c.1671C>A	p.Asp557Glu	p.D557E	ENST00000381312	NM_018702.3	557	gaC/gaA	0	validated		probablydamaging	
TXNRD3NB		inserm.fr	GRCh37	3	126291336	126291336	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000383572.2:c.51G>A	p.Glu17=	p.E17=	ENST00000383572	NM_001039783.1	17	gaG/gaA	0	not done		synonymous	
MUC5B		inserm.fr	GRCh37	11	1263137	1263137	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1028T																					ENST00000529681.1:c.5027C>T	p.Thr1676Met	p.T1676M	ENST00000529681	NM_002458.2	1676	aCg/aTg	0	not done		probablydamaging	
SNTG2		inserm.fr	GRCh37	2	1263167	1263167	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1207T																					ENST00000308624.5:c.1031C>T	p.Ala344Val	p.A344V	ENST00000308624	NM_018968.3	344	gCa/gTa	0	not done		probablydamaging	
FAM53B		inserm.fr	GRCh37	10	126370518	126370518	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC218T																					ENST00000337318.3:c.564C>A	p.His188Gln	p.H188Q	ENST00000337318	NM_014661.3	188	caC/caA	0	validated		probablydamaging	
FAT4		inserm.fr	GRCh37	4	126371088	126371088	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC429T																					ENST00000394329.3:c.8917A>T	p.Ile2973Leu	p.I2973L	ENST00000394329	NM_024582.4	2973	Ata/Tta	0	validated		benign	
ZNF564		inserm.fr	GRCh37	19	12638055	12638055	+	synonymous_variant	Silent	SNP	G	T	T			CHC796T																					ENST00000339282.7:c.867C>A	p.Ala289=	p.A289=	ENST00000339282	NM_144976.3	289	gcC/gcA	0	validated		synonymous	
FAM53B		inserm.fr	GRCh37	10	126395212	126395212	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000337318.3:c.71G>A	p.Arg24His	p.R24H	ENST00000337318	NM_014661.3	24	cGt/cAt	0	not done		possiblydamaging	
KIRREL3		inserm.fr	GRCh37	11	126396447	126396447	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000525144.2:c.269G>A	p.Gly90Asp	p.G90D	ENST00000525144	NM_032531.3	90	gGc/gAc	0	not done		probablydamaging	
KIRREL3		inserm.fr	GRCh37	11	126396460	126396460	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000525144.2:c.256G>A	p.Ala86Thr	p.A86T	ENST00000525144	NM_032531.3	86	Gct/Act	0	not done		probablydamaging	
GRM8		inserm.fr	GRCh37	7	126410057	126410057	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM695T																					ENST00000339582.2:c.1219G>A	p.Asp407Asn	p.D407N	ENST00000339582		407	Gat/Aat	0	validated		probablydamaging	
SPIRE1		inserm.fr	GRCh37	18	12658568	12658568	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000400514.2:c.102-5C>T		p.X34_splice	ENST00000400514				0	not done			
MYOCD		inserm.fr	GRCh37	17	12659777	12659777	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1725T																					ENST00000425538.1:c.2105C>T	p.Ser702Phe	p.S702F	ENST00000425538	NM_001146312.1	702	tCt/tTt	0	not done			
SCIN		inserm.fr	GRCh37	7	12664654	12664654	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1207T																					ENST00000297029.5:c.779C>T	p.Ser260Phe	p.S260F	ENST00000297029	NM_001112706.2	260	tCc/tTc	0	not done		possiblydamaging	
MYOCD		inserm.fr	GRCh37	17	12666403	12666403	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000425538.1:c.2403C>T	p.Asp801=	p.D801=	ENST00000425538	NM_001146312.1	801	gaC/gaT	0	not done		synonymous	
MYOCD		inserm.fr	GRCh37	17	12666790	12666790	+	synonymous_variant	Silent	SNP	C	T	T			CHC793T																					ENST00000425538.1:c.2790C>T	p.Phe930=	p.F930=	ENST00000425538	NM_001146312.1	930	ttC/ttT	0	validated		synonymous	
ZRANB1		inserm.fr	GRCh37	10	126672165	126672165	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1763T																					ENST00000359653.4:c.1816C>T	p.Leu606Phe	p.L606F	ENST00000359653	NM_017580.2	606	Ctc/Ttc	0	not done		probablydamaging	
CTBP2		inserm.fr	GRCh37	10	126715960	126715960	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000309035.6:c.369G>A	p.Glu123=	p.E123=	ENST00000309035	NM_022802.2	123	gaG/gaA	0	not done		synonymous	
CTBP2		inserm.fr	GRCh37	10	126727581	126727581	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000337195.5:c.43G>A	p.Asp15Asn	p.D15N	ENST00000337195	NM_001329.2	15	Gac/Aac	0	not done		benign	
PLXNA1		inserm.fr	GRCh37	3	126734062	126734062	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000393409.2:c.2913G>T	p.Gly971=	p.G971=	ENST00000393409	NM_032242.3	971	ggG/ggT	0	not done		synonymous	
PLXNA1		inserm.fr	GRCh37	3	126735481	126735481	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1186T																					ENST00000393409.2:c.3136G>T	p.Glu1046Ter	p.E1046*	ENST00000393409	NM_032242.3	1046	Gag/Tag	0	not done		damaging	
PLXNA1		inserm.fr	GRCh37	3	126740966	126740966	+	synonymous_variant	Silent	SNP	G	T	T			CHC2128T																					ENST00000393409.2:c.4077G>T	p.Gly1359=	p.G1359=	ENST00000393409	NM_032242.3	1359	ggG/ggT	0	not done		synonymous	
MEGF10		inserm.fr	GRCh37	5	126770426	126770426	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000274473.6:c.1888C>T	p.Gln630Ter	p.Q630*	ENST00000274473	NM_032446.2	630	Cag/Tag	0	not done		damaging	
CEP76		inserm.fr	GRCh37	18	12678137	12678137	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM723T																					ENST00000262127.2:c.1594C>A	p.Leu532Met	p.L532M	ENST00000262127	NM_024899.3	532	Ctg/Atg	0	validated		possiblydamaging	
MEGF10		inserm.fr	GRCh37	5	126783315	126783315	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1746T																					ENST00000274473.6:c.2795C>T	p.Thr932Met	p.T932M	ENST00000274473	NM_032446.2	932	aCg/aTg	0	not done		probablydamaging	
MEGF10		inserm.fr	GRCh37	5	126792995	126792995	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000274473.6:c.3408C>T	p.Ser1136=	p.S1136=	ENST00000274473	NM_032446.2	1136	agC/agT	0	not done		synonymous	
PRRC1		inserm.fr	GRCh37	5	126874824	126874824	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1744T																					ENST00000296666.8:c.1014G>T	p.Leu338Phe	p.L338F	ENST00000296666	NM_130809.3	338	ttG/ttT	0	not done		probablydamaging	
PRR23E		inserm.fr	GRCh37	3	126915653	126915653	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2206T																					ENST00000398112.1:c.125G>T	p.Gly42Val	p.G42V	ENST00000398112	NM_001007534.2	42	gGt/gTt	0	not done			
PRR23E		inserm.fr	GRCh37	3	126915984	126915984	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000398112.1:c.456C>T	p.His152=	p.H152=	ENST00000398112	NM_001007534.2	152	caC/caT	0	not done		synonymous	
TAS1R3		inserm.fr	GRCh37	1	1269198	1269198	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000339381.5:c.1913C>T	p.Pro638Leu	p.P638L	ENST00000339381	NM_152228.1	638	cCc/cTc	0	validated		possiblydamaging	
FRMPD4		inserm.fr	GRCh37	X	12693004	12693004	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000380682.1:c.445C>T	p.Leu149Phe	p.L149F	ENST00000380682	NM_014728.3	149	Ctc/Ttc	0	not done		benign	
PSMG2		inserm.fr	GRCh37	18	12706605	12706605	+	synonymous_variant	Silent	SNP	A	T	T			CHC1736T																					ENST00000317615.6:c.114A>T	p.Thr38=	p.T38=	ENST00000317615	NM_020232.4	38	acA/acT	0	not done		synonymous	
TYRP1		inserm.fr	GRCh37	9	12708082	12708082	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000388918.5:c.1347C>T	p.Asn449=	p.N449=	ENST00000388918	NM_000550.2	449	aaC/aaT	0	not done		synonymous	
MUC5B		inserm.fr	GRCh37	11	1270927	1270927	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000529681.1:c.12817C>T	p.Pro4273Ser	p.P4273S	ENST00000529681	NM_002458.2	4273	Ccg/Tcg	0	not done		benign	
PSMB7		inserm.fr	GRCh37	9	127146936	127146936	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC1148T																					ENST00000259457.3:c.512-1G>A		p.X171_splice	ENST00000259457	NM_002799.3			0	not done		possiblydamaging	
GPR144		inserm.fr	GRCh37	9	127214970	127214970	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1602T																					ENST00000334810.1:c.306A>T	p.Arg102Ser	p.R102S	ENST00000334810	NM_001161808.1	102	agA/agT	0	not done		probablydamaging	
GCC1		inserm.fr	GRCh37	7	127222576	127222576	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2098T																					ENST00000321407.2:c.1820G>A	p.Arg607His	p.R607H	ENST00000321407	NM_024523.5	607	cGt/cAt	0	not done		probablydamaging	
GPR144		inserm.fr	GRCh37	9	127231767	127231767	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000334810.1:c.2499C>T	p.Arg833=	p.R833=	ENST00000334810	NM_001161808.1	833	cgC/cgT	0	not done		synonymous	
PAX4		inserm.fr	GRCh37	7	127253515	127253515	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000341640.2:c.610G>A	p.Asp204Asn	p.D204N	ENST00000341640	NM_006193.2	204	Gac/Aac	0	not done		benign	
PAX4		inserm.fr	GRCh37	7	127253856	127253856	+	synonymous_variant	Silent	SNP	C	T	T			BCM501T																					ENST00000341640.2:c.492G>A	p.Arg164=	p.R164=	ENST00000341640	NM_006193.2	164	cgG/cgA	0	validated		synonymous	
NR5A1		inserm.fr	GRCh37	9	127255341	127255341	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1743T																					ENST00000373588.4:c.958G>A	p.Glu320Lys	p.E320K	ENST00000373588	NM_004959.4	320	Gag/Aag	0	not done		possiblydamaging	
PAX4		inserm.fr	GRCh37	7	127255515	127255515	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000341640.2:c.60G>A	p.Gln20=	p.Q20=	ENST00000341640	NM_006193.2	20	caG/caA	0	not done		synonymous	
MUC5B		inserm.fr	GRCh37	11	1272621	1272621	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000529681.1:c.14511C>T	p.Thr4837=	p.T4837=	ENST00000529681	NM_002458.2	4837	acC/acT	0	not done		synonymous	
NR5A1		inserm.fr	GRCh37	9	127265482	127265482	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000373588.4:c.120G>A	p.Thr40=	p.T40=	ENST00000373588	NM_004959.4	40	acG/acA	0	not done		synonymous	
TPSG1		inserm.fr	GRCh37	16	1272795	1272795	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000234798.4:c.368G>A	p.Ser123Asn	p.S123N	ENST00000234798	NM_012467.3	123	aGc/aAc	0	not done		benign	
TPRA1		inserm.fr	GRCh37	3	127298975	127298975	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000355552.3:c.15G>A	p.Glu5=	p.E5=	ENST00000355552	NM_001136053.2	5	gaG/gaA	0	not done		synonymous	
MCM2		inserm.fr	GRCh37	3	127325149	127325149	+	synonymous_variant	Silent	SNP	C	T	T			CHC1597T																					ENST00000265056.7:c.862C>T	p.Leu288=	p.L288=	ENST00000265056	NM_004526.3	288	Ctg/Ttg	0	not done		synonymous	
FRMPD4		inserm.fr	GRCh37	X	12734847	12734847	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1742T																					ENST00000380682.1:c.2269G>T	p.Glu757Ter	p.E757*	ENST00000380682	NM_014728.3	757	Gag/Tag	0	not done		damaging	
PODXL2		inserm.fr	GRCh37	3	127379653	127379653	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000342480.6:c.782C>T	p.Thr261Ile	p.T261I	ENST00000342480	NM_015720.3	261	aCc/aTc	0	not done		benign	
C10orf137		inserm.fr	GRCh37	10	127426511	127426511	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC155T																					ENST00000356792.4:c.1783C>T	p.His595Tyr	p.H595Y	ENST00000356792	NM_001202438.1	595	Cat/Tat	0	validated		possiblydamaging	
C10orf137		inserm.fr	GRCh37	10	127442355	127442355	+	synonymous_variant	Silent	SNP	G	T	T			CHC429T																					ENST00000356792.4:c.3486G>T	p.Arg1162=	p.R1162=	ENST00000356792	NM_001202438.1	1162	cgG/cgT	0	validated		synonymous	
OLFML2A		inserm.fr	GRCh37	9	127572470	127572470	+	synonymous_variant	Silent	SNP	C	T	T			CHC1207T																					ENST00000373580.3:c.1738C>T	p.Leu580=	p.L580=	ENST00000373580	NM_182487.2	580	Ctg/Ttg	0	not done		synonymous	
FBN2		inserm.fr	GRCh37	5	127595349	127595349	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1595T																					ENST00000508053.1:c.8537G>A	p.Arg2846His	p.R2846H	ENST00000508053		2846	cGc/cAc	0	validated		possiblydamaging	
FBN2		inserm.fr	GRCh37	5	127599191	127599191	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC909T																					ENST00000508053.1:c.8118C>A	p.Cys2706Ter	p.C2706*	ENST00000508053		2706	tgC/tgA	0	not done		damaging	
FBN2		inserm.fr	GRCh37	5	127607716	127607716	+	synonymous_variant	Silent	SNP	C	T	T			CHC923T																					ENST00000508053.1:c.7935G>A	p.Gln2645=	p.Q2645=	ENST00000508053		2645	caG/caA	0	not done		synonymous	
FBN2		inserm.fr	GRCh37	5	127614402	127614402	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1763T																					ENST00000508053.1:c.7270C>A	p.Leu2424Ile	p.L2424I	ENST00000508053		2424	Ctt/Att	0	not done		benign	
WDR38		inserm.fr	GRCh37	9	127619782	127619782	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1775T																					ENST00000373574.1:c.818G>T	p.Gly273Val	p.G273V	ENST00000373574	NM_001045476.2	273	gGa/gTa	0	validated		damaging	
WDR38		inserm.fr	GRCh37	9	127619783	127619783	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	T	T			CHC1775T																					ENST00000373574.1:c.819A>T	p.Gly273=	p.G273=	ENST00000373574	NM_001045476.2	273	ggA/ggT	0	validated		synonymous	
FBN2		inserm.fr	GRCh37	5	127637109	127637109	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM339T																					ENST00000508053.1:c.6011G>A	p.Gly2004Asp	p.G2004D	ENST00000508053		2004	gGt/gAt	0	validated		probablydamaging	
MUC5B		inserm.fr	GRCh37	11	1276646	1276646	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000529681.1:c.15924G>T	p.Pro5308=	p.P5308=	ENST00000529681	NM_002458.2	5308	ccG/ccT	0	validated		synonymous	
FBN2		inserm.fr	GRCh37	5	127668687	127668687	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC097T																					ENST00000508053.1:c.4139T>A	p.Met1380Lys	p.M1380K	ENST00000508053		1380	aTg/aAg	0	not done		probablydamaging	
FBN2		inserm.fr	GRCh37	5	127681161	127681161	+	synonymous_variant	Silent	SNP	G	T	T			CHC1744T																					ENST00000508053.1:c.3105C>A	p.Thr1035=	p.T1035=	ENST00000508053		1035	acC/acA	0	not done		synonymous	
FANK1		inserm.fr	GRCh37	10	127683991	127683991	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM337T																					ENST00000368693.1:c.322C>T	p.Pro108Ser	p.P108S	ENST00000368693		108	Ccc/Tcc	0	validated		probablydamaging	
FBN2		inserm.fr	GRCh37	5	127686648	127686648	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000508053.1:c.2724G>A	p.Glu908=	p.E908=	ENST00000508053		908	gaG/gaA	0	not done		synonymous	
FBN2		inserm.fr	GRCh37	5	127697426	127697426	+	synonymous_variant	Silent	SNP	C	T	T			CHC2127T																					ENST00000508053.1:c.2544G>A	p.Glu848=	p.E848=	ENST00000508053		848	gaG/gaA	0	not done		synonymous	
FBN2		inserm.fr	GRCh37	5	127697486	127697486	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1736T																					ENST00000508053.1:c.2484C>A	p.Asn828Lys	p.N828K	ENST00000508053		828	aaC/aaA	0	not done		probablydamaging	
ADAM12		inserm.fr	GRCh37	10	127708308	127708308	+	synonymous_variant	Silent	SNP	C	T	T			CHC1041T																					ENST00000368679.4:c.2625G>A	p.Arg875=	p.R875=	ENST00000368679	NM_003474.4	875	agG/agA	0	validated		synonymous	
ADAM12		inserm.fr	GRCh37	10	127708356	127708356	+	synonymous_variant	Silent	SNP	A	T	T			CHC301T																					ENST00000368679.4:c.2577T>A	p.Pro859=	p.P859=	ENST00000368679	NM_003474.4	859	ccT/ccA	0	validated		synonymous	
SND1		inserm.fr	GRCh37	7	127714621	127714621	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1629T																					ENST00000354725.3:c.1847C>T	p.Ala616Val	p.A616V	ENST00000354725	NM_014390.2	616	gCc/gTc	0	not done		benign	
ADAM12		inserm.fr	GRCh37	10	127726810	127726810	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000368679.4:c.2358G>A	p.Lys786=	p.K786=	ENST00000368679	NM_003474.4	786	aaG/aaA	0	not done		damaging	
ADAM12		inserm.fr	GRCh37	10	127782641	127782641	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1725T																					ENST00000368679.4:c.1067T>A	p.Phe356Tyr	p.F356Y	ENST00000368679	NM_003474.4	356	tTc/tAc	0	not done		probablydamaging	
SOGA3		inserm.fr	GRCh37	6	127797104	127797104	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	T	T			BCB157T																					ENST00000481848.2:c.2067C>A	p.Ser689Arg	p.S689R	ENST00000481848		689	agC/agA	0	validated		probablydamaging	
FBN2		inserm.fr	GRCh37	5	127800524	127800524	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1085T																					ENST00000508053.1:c.719G>A	p.Cys240Tyr	p.C240Y	ENST00000508053		240	tGt/tAt	0	validated		probablydamaging	
EEFSEC		inserm.fr	GRCh37	3	127872659	127872659	+	synonymous_variant	Silent	SNP	C	T	T			CHC2216T																					ENST00000254730.6:c.309C>T	p.Ile103=	p.I103=	ENST00000254730	NM_021937.3	103	atC/atT	0	not done		synonymous	
LEP		inserm.fr	GRCh37	7	127892075	127892075	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1053T																					ENST00000308868.4:c.4C>T	p.His2Tyr	p.H2Y	ENST00000308868	NM_000230.2	2	Cat/Tat	0	validated		benign	
DHPS		inserm.fr	GRCh37	19	12790529	12790529	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000210060.7:c.499G>A	p.Gly167Arg	p.G167R	ENST00000210060	NM_001930.3	167	Gga/Aga	0	validated		probablydamaging	
CREBL2		inserm.fr	GRCh37	12	12790566	12790566	+	synonymous_variant	Silent	SNP	C	T	T			CHC1591T																					ENST00000228865.2:c.276C>T	p.Leu92=	p.L92=	ENST00000228865	NM_001310.2	92	ctC/ctT	0	not done		synonymous	
RBM28		inserm.fr	GRCh37	7	127975675	127975675	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2052T																					ENST00000223073.2:c.868C>A	p.Leu290Ile	p.L290I	ENST00000223073	NM_018077.2	290	Cta/Ata	0	not done		possiblydamaging	
PRRT4		inserm.fr	GRCh37	7	127999394	127999394	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000446477.2:c.652G>A	p.Gly218Arg	p.G218R	ENST00000446477	NM_001174164.1	218	Gga/Aga	0	not done		probablydamaging	
THEMIS		inserm.fr	GRCh37	6	128040926	128040926	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000543064.1:c.1918G>A	p.Ala640Thr	p.A640T	ENST00000543064	NM_001164685.1	640	Gct/Act	0	not done		benign	
MAP3K2		inserm.fr	GRCh37	2	128079726	128079726	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000409947.1:c.941G>A	p.Ser314Asn	p.S314N	ENST00000409947		314	aGc/aAc	0	not done		benign	
GAPVD1		inserm.fr	GRCh37	9	128086189	128086189	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2111T																					ENST00000394105.2:c.1845A>T	p.Leu615Phe	p.L615F	ENST00000394105	NM_015635.2	615	ttA/ttT	0	not done		probablydamaging	
C10orf90		inserm.fr	GRCh37	10	128149994	128149994	+	synonymous_variant	Silent	SNP	C	T	T			CHC1531T																					ENST00000284694.7:c.1695G>A	p.Thr565=	p.T565=	ENST00000284694	NM_001004298.2	565	acG/acA	0	not done		synonymous	
DNAJB8		inserm.fr	GRCh37	3	128181718	128181718	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1061T																					ENST00000469083.1:c.371G>A	p.Gly124Asp	p.G124D	ENST00000469083		124	gGt/gAt	0	validated		benign	
C10orf90		inserm.fr	GRCh37	10	128193034	128193034	+	synonymous_variant	Silent	SNP	C	T	T			CHC1531T																					ENST00000284694.7:c.735G>A	p.Pro245=	p.P245=	ENST00000284694	NM_001004298.2	245	ccG/ccA	0	not done		synonymous	
C10orf90		inserm.fr	GRCh37	10	128193312	128193312	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1739T																					ENST00000284694.7:c.457G>A	p.Ala153Thr	p.A153T	ENST00000284694	NM_001004298.2	153	Gcc/Acc	0	not done		benign	
C3orf27		inserm.fr	GRCh37	3	128292399	128292399	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000356020.2:c.174G>A	p.Glu58=	p.E58=	ENST00000356020	NM_007354.2	58	gaG/gaA	0	not done		synonymous	
MAPKAP1		inserm.fr	GRCh37	9	128305402	128305402	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000265960.3:c.894G>A	p.Lys298=	p.K298=	ENST00000265960	NM_001006617.1	298	aaG/aaA	0	not done		synonymous	
MYO7B		inserm.fr	GRCh37	2	128327382	128327382	+	synonymous_variant	Silent	SNP	C	T	T			CHC1209T																					ENST00000428314.1:c.489C>T	p.Gly163=	p.G163=	ENST00000428314	NM_001080527.1	163	ggC/ggT	0	not done		synonymous	
MYO7B		inserm.fr	GRCh37	2	128331538	128331538	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000428314.1:c.636C>T	p.Arg212=	p.R212=	ENST00000428314	NM_001080527.1	212	cgC/cgT	0	not done		synonymous	
MYO7B		inserm.fr	GRCh37	2	128346025	128346025	+	synonymous_variant	Silent	SNP	C	T	T			BCM711T																					ENST00000428314.1:c.1749C>T	p.Ser583=	p.S583=	ENST00000428314	NM_001080527.1	583	tcC/tcT	0	validated		synonymous	
RPN1		inserm.fr	GRCh37	3	128350918	128350918	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000296255.3:c.716G>A	p.Trp239Ter	p.W239*	ENST00000296255	NM_002950.3	239	tGg/tAg	0	not done		damaging	
PRAMEF12		inserm.fr	GRCh37	1	12835843	12835843	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000357726.4:c.445C>T	p.Leu149=	p.L149=	ENST00000357726	NM_001080830.1	149	Cta/Tta	0	not done		synonymous	
PRPS2		inserm.fr	GRCh37	X	12837773	12837773	+	synonymous_variant	Silent	SNP	C	T	T			BCM439T																					ENST00000398491.2:c.687C>T	p.Cys229=	p.C229=	ENST00000398491		229	tgC/tgT	0	validated		synonymous	
MYO7B		inserm.fr	GRCh37	2	128389827	128389827	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000428314.1:c.5178C>T	p.Ser1726=	p.S1726=	ENST00000428314	NM_001080527.1	1726	agC/agT	0	validated		synonymous	
GPR17		inserm.fr	GRCh37	2	128408563	128408563	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1743T																					ENST00000544369.1:c.338C>T	p.Pro113Leu	p.P113L	ENST00000544369	NM_001161415.1	113	cCc/cTc	0	not done		probablydamaging	
PTPRK		inserm.fr	GRCh37	6	128411093	128411093	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000368213.5:c.1207G>A	p.Ala403Thr	p.A403T	ENST00000368213	NM_001135648.1	403	Gca/Aca	0	not done		possiblydamaging	
ETS1		inserm.fr	GRCh37	11	128426317	128426317	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000392668.4:c.83G>A	p.Ser28Asn	p.S28N	ENST00000392668	NM_001143820.1	28	aGc/aAc	0	not done		benign	
CCDC136		inserm.fr	GRCh37	7	128444781	128444781	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000297788.4:c.748C>T	p.Leu250Phe	p.L250F	ENST00000297788	NM_022742.4	250	Ctc/Ttc	0	not done		probablydamaging	
C19orf43		inserm.fr	GRCh37	19	12845213	12845213	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000242784.4:c.259G>A	p.Gly87Ser	p.G87S	ENST00000242784	NM_024038.2	87	Ggt/Agt	0	not done		benign	
FLNC		inserm.fr	GRCh37	7	128477254	128477254	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000325888.8:c.642C>T	p.Pro214=	p.P214=	ENST00000325888	NM_001458.4	214	ccC/ccT	0	not done		synonymous	
FLNC		inserm.fr	GRCh37	7	128478840	128478840	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC961T																					ENST00000325888.8:c.1394C>T	p.Pro465Leu	p.P465L	ENST00000325888	NM_001458.4	465	cCt/cTt	0	validated		benign	
FLNC		inserm.fr	GRCh37	7	128492958	128492958	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000325888.8:c.6081C>T	p.Ser2027=	p.S2027=	ENST00000325888	NM_001458.4	2027	agC/agT	0	not done		synonymous	
FLNC		inserm.fr	GRCh37	7	128494165	128494165	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000325888.8:c.6622G>T	p.Glu2208Ter	p.E2208*	ENST00000325888	NM_001458.4	2208	Gag/Tag	0	not done		damaging	
CAND2		inserm.fr	GRCh37	3	12851824	12851824	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC1211T									Valid												ENST00000456430.2:c.757+1G>T		p.X253_splice	ENST00000456430	NM_001162499.1			0	validated		possiblydamaging	
KCP		inserm.fr	GRCh37	7	128518666	128518666	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC892T																					ENST00000476647.2:n.4300G>A		*1434*	ENST00000476647				0	not done			
WDR33		inserm.fr	GRCh37	2	128522233	128522233	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000322313.4:c.626+169G>A		*209*	ENST00000322313	NM_018383.4			0	not done		damaging	
ARHGAP44		inserm.fr	GRCh37	17	12852477	12852477	+	synonymous_variant	Silent	SNP	C	T	T			CHC2208T																					ENST00000379672.5:c.882C>T	p.Pro294=	p.P294=	ENST00000379672	NM_014859.4	294	ccC/ccT	0	not done		synonymous	
PRAMEF1		inserm.fr	GRCh37	1	12853441	12853441	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC917T																					ENST00000332296.7:c.65C>T	p.Ala22Val	p.A22V	ENST00000332296	NM_023013.2	22	gCc/gTc	0	validated		possiblydamaging	
KCP		inserm.fr	GRCh37	7	128542880	128542880	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			BCM337T																					ENST00000476647.2:n.825G>A		*275*	ENST00000476647				0	validated		probablydamaging	
ASNA1		inserm.fr	GRCh37	19	12856223	12856223	+	synonymous_variant	Silent	SNP	G	T	T			CHC891T																					ENST00000591090.1:c.342G>T	p.Leu114=	p.L114=	ENST00000591090		114	ctG/ctT	0	not done		synonymous	
SMARCA1		inserm.fr	GRCh37	X	128649922	128649922	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC302T									Valid												ENST00000371122.4:c.478G>A	p.Glu160Lys	p.E160K	ENST00000371122	NM_003069.3	160	Gag/Aag	0	validated		possiblydamaging	
SMARCA1		inserm.fr	GRCh37	X	128657253	128657253	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC794T																					ENST00000371122.4:c.95C>A	p.Ser32Tyr	p.S32Y	ENST00000371122	NM_003069.3	32	tCc/tAc	0	validated		possiblydamaging	
BEST2		inserm.fr	GRCh37	19	12868615	12868615	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000549706.1:c.1254C>T	p.Leu418=	p.L418=	ENST00000549706		418	ctC/ctT	0	validated		synonymous	
HOOK2		inserm.fr	GRCh37	19	12877000	12877000	+	synonymous_variant	Silent	SNP	C	T	T			CHC2352T																					ENST00000397668.3:c.1428G>A	p.Ala476=	p.A476=	ENST00000397668	NM_013312.2	476	gcG/gcA	0	not done		synonymous	
GP9		inserm.fr	GRCh37	3	128780727	128780727	+	synonymous_variant	Silent	SNP	C	T	T			CHC301T																					ENST00000307395.4:c.145C>T	p.Leu49=	p.L49=	ENST00000307395	NM_000174.3	49	Ctg/Ttg	0	validated		synonymous	
HOOK2		inserm.fr	GRCh37	19	12878668	12878668	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000397668.3:c.1265G>A	p.Arg422His	p.R422H	ENST00000397668	NM_013312.2	422	cGc/cAc	0	not done		probablydamaging	
ARHGAP32		inserm.fr	GRCh37	11	128857975	128857975	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1545T																					ENST00000310343.9:c.1199G>A	p.Gly400Asp	p.G400D	ENST00000310343	NM_001142685.1	400	gGc/gAc	0	not done		probablydamaging	
ADAMTS19		inserm.fr	GRCh37	5	128864293	128864293	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM695T																					ENST00000274487.4:c.1233G>T	p.Lys411Asn	p.K411N	ENST00000274487	NM_133638.3	411	aaG/aaT	0	validated		possiblydamaging	
PRAMEF11		inserm.fr	GRCh37	1	12888397	12888397	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1154T																					ENST00000535591.1:c.127G>A	p.Asp43Asn	p.D43N	ENST00000535591	NM_001146344.1	43	Gat/Aat	0	validated		probablydamaging	
CAND2		inserm.fr	GRCh37	3	12892324	12892324	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			BCM337T																					ENST00000502828.2:n.167C>T		*56*	ENST00000502828				0	validated			
UGGT1		inserm.fr	GRCh37	2	128935444	128935444	+	synonymous_variant	Silent	SNP	G	T	T			CHC1201T																					ENST00000259253.6:c.3663G>T	p.Leu1221=	p.L1221=	ENST00000259253	NM_020120.3	1221	ctG/ctT	0	not done		synonymous	
ZDHHC9		inserm.fr	GRCh37	X	128948761	128948761	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1594T																					ENST00000357166.6:c.498C>A	p.Asp166Glu	p.D166E	ENST00000357166	NM_016032.3	166	gaC/gaA	0	not done		probablydamaging	
ADAMTS19		inserm.fr	GRCh37	5	128956449	128956449	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC155T																					ENST00000274487.4:c.1599C>T	p.Leu533=	p.L533=	ENST00000274487	NM_133638.3	533	ctC/ctT	0	validated		synonymous	
FAM196A		inserm.fr	GRCh37	10	128973828	128973828	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2098T																					ENST00000522781.1:c.832C>A	p.Gln278Lys	p.Q278K	ENST00000522781	NM_001039762.2	278	Cag/Aag	0	not done		benign	
FAM196A		inserm.fr	GRCh37	10	128973881	128973881	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000522781.1:c.779C>A	p.Ala260Asp	p.A260D	ENST00000522781	NM_001039762.2	260	gCc/gAc	0	not done		benign	
COPG1		inserm.fr	GRCh37	3	128979226	128979226	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1731T																					ENST00000314797.6:c.922G>T	p.Val308Phe	p.V308F	ENST00000314797	NM_016128.3	308	Gtt/Ttt	0	not done		probablydamaging	
TEAD1		inserm.fr	GRCh37	11	12901380	12901380	+	synonymous_variant	Silent	SNP	G	T	T			CHC1591T																					ENST00000361985.2:c.456G>T	p.Gly152=	p.G152=	ENST00000361985		152	ggG/ggT	0	not done		synonymous	
UTP14A		inserm.fr	GRCh37	X	129060265	129060265	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000394422.3:c.1993C>T	p.Pro665Ser	p.P665S	ENST00000394422	NM_006649.3	665	Cca/Tca	0	not done		benign	
TLR7		inserm.fr	GRCh37	X	12906720	12906720	+	synonymous_variant	Silent	SNP	C	T	T			BCM791T																					ENST00000380659.3:c.3093C>T	p.Asn1031=	p.N1031=	ENST00000380659	NM_016562.3	1031	aaC/aaT	0	validated		synonymous	
ADAMTS19		inserm.fr	GRCh37	5	129070802	129070802	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1747T																					ENST00000274487.4:c.3472G>T	p.Ala1158Ser	p.A1158S	ENST00000274487	NM_133638.3	1158	Gct/Tct	0	not done		probablydamaging	
PRDX2		inserm.fr	GRCh37	19	12911090	12911090	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000301522.2:c.281G>A	p.Gly94Glu	p.G94E	ENST00000301522	NM_005809.5	94	gGa/gAa	0	not done		probablydamaging	
TPSAB1		inserm.fr	GRCh37	16	1291666	1291666	+	synonymous_variant	Silent	SNP	C	T	T			CHC961T																					ENST00000338844.3:c.465C>T	p.Cys155=	p.C155=	ENST00000338844	NM_003294.3	155	tgC/tgT	0	validated		synonymous	
DOCK1		inserm.fr	GRCh37	10	129172465	129172465	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000280333.6:c.3599C>T	p.Thr1200Ile	p.T1200I	ENST00000280333	NM_001380.3	1200	aCc/aTc	0	not done		probablydamaging	
PRAMEF2		inserm.fr	GRCh37	1	12918986	12918986	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1098T																					ENST00000240189.2:c.122G>T	p.Arg41Met	p.R41M	ENST00000240189	NM_023014.1	41	aGg/aTg	0	validated		benign	
TMEM132C		inserm.fr	GRCh37	12	129190046	129190046	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1596T																					ENST00000435159.2:c.2533C>T	p.Pro845Ser	p.P845S	ENST00000435159	NM_001136103.2	845	Ccc/Tcc	0	validated		benign	
PRAMEF2		inserm.fr	GRCh37	1	12919057	12919057	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000240189.2:c.193C>T	p.Pro65Ser	p.P65S	ENST00000240189	NM_023014.1	65	Cct/Tct	0	not done		probablydamaging	
PGRMC2		inserm.fr	GRCh37	4	129208529	129208529	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC1704T																					ENST00000520121.1:c.489G>A	p.Pro163=	p.P163=	ENST00000520121	NM_006320.4	163	ccG/ccA	0	not done		possiblydamaging	
IFT122		inserm.fr	GRCh37	3	129239056	129239056	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1040T																					ENST00000296266.3:c.3827A>T	p.Gln1276Leu	p.Q1276L	ENST00000296266	NM_052985.3	1276	cAg/cTg	0	not done		probablydamaging	
RNASEH2A		inserm.fr	GRCh37	19	12923923	12923923	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000221486.4:c.664G>T	p.Glu222Ter	p.E222*	ENST00000221486	NM_006397.2	222	Gag/Tag	0	not done		damaging	
RHO		inserm.fr	GRCh37	3	129247607	129247607	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC796T																					ENST00000296271.3:c.31G>T	p.Val11Leu	p.V11L	ENST00000296271	NM_000539.3	11	Gtg/Ttg	0	validated		benign	
AIFM1		inserm.fr	GRCh37	X	129264136	129264136	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB167T																					ENST00000287295.3:c.1579G>A	p.Gly527Ser	p.G527S	ENST00000287295	NM_004208.3	527	Ggt/Agt	0	validated		benign	
PLXND1		inserm.fr	GRCh37	3	129284307	129284307	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2362T																					ENST00000324093.4:c.4397T>A	p.Leu1466Gln	p.L1466Q	ENST00000324093	NM_015103.2	1466	cTg/cAg	0	validated		probablydamaging	
PLXND1		inserm.fr	GRCh37	3	129325363	129325363	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000324093.4:c.120G>A	p.Gly40=	p.G40=	ENST00000324093	NM_015103.2	40	ggG/ggA	0	not done		synonymous	
NPS		inserm.fr	GRCh37	10	129347635	129347635	+	start_lost	Translation_Start_Site	SNP	G	T	T			CHC2052T																					ENST00000398023.1:c.3G>T	p.Met1?	p.M1?	ENST00000398023	NM_001030013.1	1	atG/atT	0	not done		probablydamaging	
GLT1D1		inserm.fr	GRCh37	12	129360489	129360489	+	synonymous_variant	Silent	SNP	C	T	T			CHC879T																					ENST00000281703.6:c.99C>T	p.Cys33=	p.C33=	ENST00000281703	NM_144669.1	33	tgC/tgT	0	not done		synonymous	
TERT		inserm.fr	GRCh37	5	1293829	1293829	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC796T									Valid												ENST00000310581.5:c.1172C>A	p.Pro391His	p.P391H	ENST00000310581	NM_198253.2	391	cCc/cAc	0	validated		possiblydamaging	
TLR8		inserm.fr	GRCh37	X	12938693	12938693	+	synonymous_variant	Silent	SNP	C	T	T			BCM739T																					ENST00000218032.6:c.1534C>T	p.Leu512=	p.L512=	ENST00000218032	NM_138636.4	512	Ctg/Ttg	0	validated		synonymous	
LMX1B		inserm.fr	GRCh37	9	129455575	129455575	+	synonymous_variant	Silent	SNP	C	T	T			CHC1186T																					ENST00000355497.5:c.714C>T	p.Phe238=	p.F238=	ENST00000355497	NM_001174146.1	238	ttC/ttT	0	validated		synonymous	
LMX1B		inserm.fr	GRCh37	9	129458162	129458162	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000355497.5:c.964C>T	p.Pro322Ser	p.P322S	ENST00000355497	NM_001174146.1	322	Ccg/Tcg	0	not done		benign	
GPR119		inserm.fr	GRCh37	X	129519379	129519379	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000276218.2:c.43G>A	p.Ala15Thr	p.A15T	ENST00000276218	NM_178471.2	15	Gcc/Acc	0	not done		benign	
TERT		inserm.fr	GRCh37	5	1295228	1295228	+	upstream_gene_variant	5'Flank	SNP	G	T	T			CHC1592T									Valid															ENST00000310581	NM_198253.2			0	no detection		damaging	
IQSEC1		inserm.fr	GRCh37	3	12953199	12953199	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC059T									Valid												ENST00000273221.4:c.2388C>A	p.Asn796Lys	p.N796K	ENST00000273221	NM_014869.5	796	aaC/aaA	0	validated		possiblydamaging	
FOXI2		inserm.fr	GRCh37	10	129535888	129535888	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000388920.4:c.351C>T	p.Ser117=	p.S117=	ENST00000388920	NM_207426.2	117	agC/agT	0	not done		synonymous	
FOXI2		inserm.fr	GRCh37	10	129535968	129535968	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000388920.4:c.431C>T	p.Ala144Val	p.A144V	ENST00000388920	NM_207426.2	144	gCg/gTg	0	not done		probablydamaging	
FOXI2		inserm.fr	GRCh37	10	129537076	129537076	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000388920.4:c.804C>T	p.Gly268=	p.G268=	ENST00000388920	NM_207426.2	268	ggC/ggT	0	not done		synonymous	
FOXI2		inserm.fr	GRCh37	10	129537142	129537142	+	synonymous_variant	Silent	SNP	C	T	T			CHC2039Tbis																					ENST00000388920.4:c.870C>T	p.Ser290=	p.S290=	ENST00000388920	NM_207426.2	290	tcC/tcT	0	validated		synonymous	
FOXI2		inserm.fr	GRCh37	10	129537152	129537152	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM337T																					ENST00000388920.4:c.880G>T	p.Ala294Ser	p.A294S	ENST00000388920	NM_207426.2	294	Gcc/Tcc	0	validated		benign	
RBMX2		inserm.fr	GRCh37	X	129543262	129543262	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC434T									Valid												ENST00000305536.6:c.205C>T	p.Arg69Trp	p.R69W	ENST00000305536	NM_016024.2	69	Cgg/Tgg	0	validated		possiblydamaging	
TMEM132D		inserm.fr	GRCh37	12	129569229	129569229	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1732T																					ENST00000422113.2:c.1462T>A	p.Tyr488Asn	p.Y488N	ENST00000422113	NM_133448.2	488	Tac/Aac	0	not done		probablydamaging	
DLC1		inserm.fr	GRCh37	8	12957576	12957576	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000276297.4:c.2270G>A	p.Ser757Asn	p.S757N	ENST00000276297	NM_182643.2	757	aGc/aAc	0	not done		probablydamaging	
ZBTB43		inserm.fr	GRCh37	9	129594945	129594945	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC465T									Valid												ENST00000373464.4:c.157G>T	p.Ala53Ser	p.A53S	ENST00000373464	NM_014007.3	53	Gcc/Tcc	0	validated		probablydamaging	
LAMA2		inserm.fr	GRCh37	6	129636751	129636751	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC097T																					ENST00000421865.2:c.3686A>T	p.His1229Leu	p.H1229L	ENST00000421865	NM_001079823.1	1229	cAt/cTt	0	not done		benign	
DDX47		inserm.fr	GRCh37	12	12966334	12966334	+	synonymous_variant	Silent	SNP	C	T	T			BCM275T																					ENST00000358007.3:c.33C>T	p.Thr11=	p.T11=	ENST00000358007	NM_016355.3	11	acC/acT	0	validated		synonymous	
MAST1		inserm.fr	GRCh37	19	12969379	12969379	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1717T																					ENST00000251472.4:c.1192C>T	p.Gln398Ter	p.Q398*	ENST00000251472	NM_014975.2	398	Cag/Tag	0	not done		damaging	
PRDM10		inserm.fr	GRCh37	11	129772233	129772233	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000358825.5:c.3458G>A	p.Ser1153Asn	p.S1153N	ENST00000358825	NM_020228.2	1153	aGc/aAc	0	not done		benign	
PRDM10		inserm.fr	GRCh37	11	129772315	129772315	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000358825.5:c.3376G>A	p.Asp1126Asn	p.D1126N	ENST00000358825	NM_020228.2	1126	Gac/Aac	0	not done		benign	
IQSEC1		inserm.fr	GRCh37	3	12977727	12977727	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000273221.4:c.831G>A	p.Arg277=	p.R277=	ENST00000273221	NM_014869.5	277	cgG/cgA	0	not done		synonymous	
IQSEC1		inserm.fr	GRCh37	3	12978009	12978009	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000273221.4:c.549G>A	p.Gly183=	p.G183=	ENST00000273221	NM_014869.5	183	ggG/ggA	0	not done		synonymous	
IQSEC1		inserm.fr	GRCh37	3	12978087	12978087	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000273221.4:c.471G>A	p.Leu157=	p.L157=	ENST00000273221	NM_014869.5	157	ttG/ttA	0	not done		synonymous	
PHF17		inserm.fr	GRCh37	4	129782910	129782910	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC884T																					ENST00000226319.6:c.1033C>T	p.Arg345Trp	p.R345W	ENST00000226319	NM_199320.2	345	Cgg/Tgg	0	validated		probablydamaging	
LAMA2		inserm.fr	GRCh37	6	129785510	129785510	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000421865.2:c.7068C>T	p.Arg2356=	p.R2356=	ENST00000421865	NM_001079823.1	2356	cgC/cgT	0	not done		synonymous	
PRDM10		inserm.fr	GRCh37	11	129785614	129785614	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000358825.5:c.2479G>A	p.Gly827Ser	p.G827S	ENST00000358825	NM_020228.2	827	Ggc/Agc	0	not done		probablydamaging	
MAST1		inserm.fr	GRCh37	19	12979884	12979884	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000251472.4:c.2778C>T	p.Asp926=	p.D926=	ENST00000251472	NM_014975.2	926	gaC/gaT	0	not done		synonymous	
RALGPS1		inserm.fr	GRCh37	9	129815197	129815197	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000259351.5:c.462C>T	p.Phe154=	p.F154=	ENST00000259351	NM_014636.2	154	ttC/ttT	0	not done		synonymous	
LAMA2		inserm.fr	GRCh37	6	129823868	129823868	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2110Tbis																					ENST00000421865.2:c.8309G>T	p.Arg2770Ile	p.R2770I	ENST00000421865	NM_001079823.1	2770	aGa/aTa	0	not done		possiblydamaging	
TMEM209		inserm.fr	GRCh37	7	129841865	129841865	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCB167T																					ENST00000397622.2:c.398C>A	p.Ser133Ter	p.S133*	ENST00000397622	NM_032842.3	133	tCa/tAa	0	validated		damaging	
PTPRE		inserm.fr	GRCh37	10	129866401	129866401	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000254667.3:c.858C>T	p.Gly286=	p.G286=	ENST00000254667	NM_006504.4	286	ggC/ggT	0	not done		synonymous	
MKI67		inserm.fr	GRCh37	10	129910637	129910637	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000368654.3:c.1729G>A	p.Val577Ile	p.V577I	ENST00000368654	NM_002417.4	577	Gtt/Att	0	not done		benign	
CPA5		inserm.fr	GRCh37	7	129986365	129986365	+	synonymous_variant	Silent	SNP	A	T	T			CHC1061T																					ENST00000485477.1:c.39A>T	p.Pro13=	p.P13=	ENST00000485477		13	ccA/ccT	0	validated		synonymous	
CPA5		inserm.fr	GRCh37	7	130002358	130002358	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000485477.1:c.614C>T	p.Thr205Ile	p.T205I	ENST00000485477		205	aCc/aTc	0	not done		benign	
CPA5		inserm.fr	GRCh37	7	130008305	130008305	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000485477.1:c.1178C>T	p.Ala393Val	p.A393V	ENST00000485477		393	gCc/gTc	0	not done		possiblydamaging	
CPA1		inserm.fr	GRCh37	7	130021970	130021970	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000011292.3:c.403C>T	p.Leu135=	p.L135=	ENST00000011292	NM_001868.2	135	Ctg/Ttg	0	not done		synonymous	
CPA1		inserm.fr	GRCh37	7	130023587	130023587	+	synonymous_variant	Silent	SNP	C	T	T			CHC1715T																					ENST00000011292.3:c.648C>T	p.Phe216=	p.F216=	ENST00000011292	NM_001868.2	216	ttC/ttT	0	not done		synonymous	
ST14		inserm.fr	GRCh37	11	130060548	130060548	+	synonymous_variant	Silent	SNP	G	T	T			CHC320T																					ENST00000278742.5:c.834G>T	p.Val278=	p.V278=	ENST00000278742	NM_021978.3	278	gtG/gtT	0	validated		synonymous	
COL6A5		inserm.fr	GRCh37	3	130098269	130098269	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265379.6:c.676C>T	p.Pro226Ser	p.P226S	ENST00000265379	NM_001278298.1	226	Ccc/Tcc	0	not done		benign	
LRSAM1		inserm.fr	GRCh37	9	130241747	130241747	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T																					ENST00000323301.4:c.866G>T	p.Ser289Ile	p.S289I	ENST00000323301	NM_138361.5	289	aGc/aTc	0	validated		benign	
FAM129B		inserm.fr	GRCh37	9	130269193	130269193	+	synonymous_variant	Silent	SNP	G	T	T			CHC1035T																					ENST00000373312.3:c.2172C>A	p.Ser724=	p.S724=	ENST00000373312	NM_022833.2	724	tcC/tcA	0	validated		synonymous	
FAM129B		inserm.fr	GRCh37	9	130269471	130269471	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000373312.3:c.1894G>A	p.Gly632Arg	p.G632R	ENST00000373312	NM_022833.2	632	Ggg/Agg	0	not done		probablydamaging	
FAM129B		inserm.fr	GRCh37	9	130293959	130293959	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000373312.3:c.154G>A	p.Gly52Arg	p.G52R	ENST00000373312	NM_022833.2	52	Ggg/Agg	0	not done		probablydamaging	
COL6A6		inserm.fr	GRCh37	3	130300460	130300460	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1137T																					ENST00000358511.6:c.3603G>T	p.Gln1201His	p.Q1201H	ENST00000358511	NM_001102608.1	1201	caG/caT	0	not done		probablydamaging	
RASSF10		inserm.fr	GRCh37	11	13031865	13031865	+	non_coding_transcript_exon_variant	RNA	SNP	G	T	T			CHC2141T																					ENST00000340901.4:n.1066G>T		*356*	ENST00000340901				0	not done		damaging	
COL6A6		inserm.fr	GRCh37	3	130325776	130325776	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC1700T																					ENST00000358511.6:c.4655C>T	p.Ala1552Val	p.A1552V	ENST00000358511	NM_001102608.1	1552	gCa/gTa	0	not done		possiblydamaging	
ADAMTS15		inserm.fr	GRCh37	11	130339279	130339279	+	synonymous_variant	Silent	SNP	C	T	T			CHC1616T																					ENST00000299164.2:c.1665C>T	p.Cys555=	p.C555=	ENST00000299164	NM_139055.2	555	tgC/tgT	0	not done		synonymous	
FARSA		inserm.fr	GRCh37	19	13035910	13035910	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC896T																					ENST00000314606.4:c.920C>A	p.Ser307Ter	p.S307*	ENST00000314606	NM_004461.2	307	tCa/tAa	0	not done		damaging	
L3MBTL3		inserm.fr	GRCh37	6	130374091	130374091	+	synonymous_variant	Silent	SNP	G	T	T			CHC1756T																					ENST00000529410.1:c.537G>T	p.Leu179=	p.L179=	ENST00000529410		179	ctG/ctT	0	not done		synonymous	
L3MBTL3		inserm.fr	GRCh37	6	130389555	130389555	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1602T																					ENST00000529410.1:c.1081A>T	p.Asn361Tyr	p.N361Y	ENST00000529410		361	Aat/Tat	0	not done		probablydamaging	
PIK3R4		inserm.fr	GRCh37	3	130403122	130403122	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC218T																					ENST00000356763.3:c.3579C>A	p.His1193Gln	p.H1193Q	ENST00000356763	NM_014602.2	1193	caC/caA	0	validated		probablydamaging	
IGSF1		inserm.fr	GRCh37	X	130419153	130419153	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370903.3:c.667G>A	p.Gly223Arg	p.G223R	ENST00000370903	NM_001555.4	223	Gga/Aga	0	not done		probablydamaging	
IGSF1		inserm.fr	GRCh37	X	130419292	130419292	+	synonymous_variant	Silent	SNP	G	T	T			CHC2351T																					ENST00000370903.3:c.528C>A	p.Val176=	p.V176=	ENST00000370903	NM_001555.4	176	gtC/gtA	0	not done		synonymous	
PIK3R4		inserm.fr	GRCh37	3	130424598	130424598	+	synonymous_variant	Silent	SNP	A	T	T			CHC1715T																					ENST00000356763.3:c.2739T>A	p.Thr913=	p.T913=	ENST00000356763	NM_014602.2	913	acT/acA	0	not done		synonymous	
STXBP1		inserm.fr	GRCh37	9	130428460	130428460	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1736T																					ENST00000373302.3:c.679C>T	p.Arg227Cys	p.R227C	ENST00000373302	NM_003165.3	227	Cgc/Tgc	0	not done		probablydamaging	
CCDC3		inserm.fr	GRCh37	10	13043553	13043553	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000378825.3:c.18G>A	p.Leu6=	p.L6=	ENST00000378825	NM_031455.3	6	ctG/ctA	0	not done		synonymous	
FARSA		inserm.fr	GRCh37	19	13044390	13044390	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2127T																					ENST00000314606.4:c.121G>A	p.Val41Met	p.V41M	ENST00000314606	NM_004461.2	41	Gtg/Atg	0	not done		benign	
SH2D3C		inserm.fr	GRCh37	9	130502554	130502554	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000314830.8:c.2183G>A	p.Ser728Asn	p.S728N	ENST00000314830	NM_170600.2	728	aGc/aAc	0	not done		benign	
SH2D3C		inserm.fr	GRCh37	9	130506851	130506851	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000314830.8:c.1792G>A	p.Asp598Asn	p.D598N	ENST00000314830	NM_170600.2	598	Gac/Aac	0	not done		probablydamaging	
FPGS		inserm.fr	GRCh37	9	130570515	130570515	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	T	T			CHC796T																					ENST00000373247.2:c.747A>T	p.Gln249His	p.Q249H	ENST00000373247	NM_004957.4	249	caA/caT	0	validated		benign	
GPRC5A		inserm.fr	GRCh37	12	13061702	13061702	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000014914.5:c.519C>T	p.Arg173=	p.R173=	ENST00000014914	NM_003979.3	173	cgC/cgT	0	not done		synonymous	
GPRC5A		inserm.fr	GRCh37	12	13061921	13061921	+	synonymous_variant	Silent	SNP	C	T	T			CHC1040T																					ENST00000014914.5:c.738C>T	p.Ser246=	p.S246=	ENST00000014914	NM_003979.3	246	agC/agT	0	not done		synonymous	
FZD10		inserm.fr	GRCh37	12	130647615	130647615	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC155T																					ENST00000229030.4:c.128A>T	p.Lys43Met	p.K43M	ENST00000229030		43	aAg/aTg	0	validated		probablydamaging	
GPRC5A		inserm.fr	GRCh37	12	13065071	13065071	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000014914.5:c.976C>T	p.Leu326=	p.L326=	ENST00000014914	NM_003979.3	326	Ctg/Ttg	0	not done		synonymous	
PIP5KL1		inserm.fr	GRCh37	9	130692002	130692002	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000388747.4:c.193G>A	p.Ala65Thr	p.A65T	ENST00000388747	NM_001135219.1	65	Gct/Act	0	not done		benign	
EEIG1		inserm.fr	GRCh37	9	130710415	130710415	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1736T																					ENST00000373095.1:c.551G>A	p.Gly184Asp	p.G184D	ENST00000373095	NM_001035254.2	184	gGc/gAc	0	not done		benign	
GSDMC		inserm.fr	GRCh37	8	130788505	130788505	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC303T									Valid												ENST00000276708.4:c.247T>A	p.Phe83Ile	p.F83I	ENST00000276708	NM_031415.2	83	Ttc/Atc	0	validated		possiblydamaging	
RAPGEF6		inserm.fr	GRCh37	5	130828312	130828312	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2052T																					ENST00000296859.6:c.1694G>A	p.Ser565Asn	p.S565N	ENST00000296859		565	aGc/aAc	0	not done		possiblydamaging	
RAPGEF6		inserm.fr	GRCh37	5	130828401	130828401	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000296859.6:c.1605G>A	p.Lys535=	p.K535=	ENST00000296859		535	aaG/aaA	0	not done		synonymous	
NAIF1		inserm.fr	GRCh37	9	130829018	130829018	+	synonymous_variant	Silent	SNP	G	T	T			BCM723T																					ENST00000373078.4:c.363C>A	p.Ala121=	p.A121=	ENST00000373078	NM_197956.3	121	gcC/gcA	0	validated		synonymous	
PIWIL1		inserm.fr	GRCh37	12	130847321	130847321	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000245255.3:c.1981C>T	p.Arg661Cys	p.R661C	ENST00000245255	NM_004764.4	661	Cgc/Tgc	0	not done		benign	
NEK11		inserm.fr	GRCh37	3	130881363	130881363	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2200T																					ENST00000383366.4:c.1074G>T	p.Arg358Ser	p.R358S	ENST00000383366	NM_024800.4	358	agG/agT	0	not done		probablydamaging	
FAM49B		inserm.fr	GRCh37	8	130883732	130883732	+	synonymous_variant	Silent	SNP	A	T	T			CHC736T																					ENST00000519824.2:c.84T>A	p.Pro28=	p.P28=	ENST00000519824	NM_016623.4	28	ccT/ccA	0	validated		synonymous	
PTGES2-AS1		inserm.fr	GRCh37	9	130891375	130891375	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1598T																					ENST00000443493.1:c.590C>T	p.Ala197Val	p.A197V	ENST00000443493		197	gCc/gTc	0	not done			
CCDC74B		inserm.fr	GRCh37	2	130899791	130899791	+	synonymous_variant	Silent	SNP	C	T	T			CHC1061T																					ENST00000310463.6:c.459G>A	p.Ala153=	p.A153=	ENST00000310463	NM_207310.2	153	gcG/gcA	0	validated		synonymous	
RIMBP2		inserm.fr	GRCh37	12	130912838	130912838	+	synonymous_variant	Silent	SNP	C	T	T			CHC2099T																					ENST00000261655.4:c.2247G>A	p.Arg749=	p.R749=	ENST00000261655	NM_015347.4	749	cgG/cgA	0	not done		synonymous	
RIMBP2		inserm.fr	GRCh37	12	130919285	130919285	+	synonymous_variant	Silent	SNP	G	T	T			CHC1209T																					ENST00000261655.4:c.2196C>A	p.Gly732=	p.G732=	ENST00000261655	NM_015347.4	732	ggC/ggA	0	not done		synonymous	
RIMBP2		inserm.fr	GRCh37	12	130926715	130926715	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000261655.4:c.1131G>A	p.Ser377=	p.S377=	ENST00000261655	NM_015347.4	377	tcG/tcA	0	not done		synonymous	
RIMBP2		inserm.fr	GRCh37	12	130926724	130926724	+	synonymous_variant	Silent	SNP	C	T	T			CHC1611T																					ENST00000261655.4:c.1122G>A	p.Arg374=	p.R374=	ENST00000261655	NM_015347.4	374	agG/agA	0	not done		synonymous	
RIMBP2		inserm.fr	GRCh37	12	130927135	130927135	+	synonymous_variant	Silent	SNP	C	T	T			CHC1616T																					ENST00000261655.4:c.711G>A	p.Ser237=	p.S237=	ENST00000261655	NM_015347.4	237	tcG/tcA	0	not done		synonymous	
RIMBP2		inserm.fr	GRCh37	12	130941180	130941180	+	synonymous_variant	Silent	SNP	C	T	T			CHC307T																					ENST00000261655.4:c.168G>A	p.Arg56=	p.R56=	ENST00000261655	NM_015347.4	56	cgG/cgA	0	validated		synonymous	
NEK11		inserm.fr	GRCh37	3	130947409	130947409	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000383366.4:c.1437C>T	p.Tyr479=	p.Y479=	ENST00000383366	NM_024800.4	479	taC/taT	0	validated		synonymous	
MZT2B		inserm.fr	GRCh37	2	130948130	130948130	+	synonymous_variant	Silent	SNP	C	T	T			BCM695T																					ENST00000281871.6:c.408C>T	p.Arg136=	p.R136=	ENST00000281871	NM_025029.3	136	cgC/cgT	0	validated		synonymous	
NEK11		inserm.fr	GRCh37	3	130992369	130992369	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1085T																					ENST00000383366.4:c.1669C>T	p.Pro557Ser	p.P557S	ENST00000383366	NM_024800.4	557	Cca/Tca	0	validated		benign	
GOLGA2		inserm.fr	GRCh37	9	131021613	131021613	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1736T									Valid												ENST00000421699.2:c.1849G>A	p.Gly617Arg	p.G617R	ENST00000421699	NM_004486.4	617	Gga/Aga	0	validated		possiblydamaging	
GOLGA2		inserm.fr	GRCh37	9	131022876	131022876	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000421699.2:c.1545G>A	p.Gly515=	p.G515=	ENST00000421699	NM_004486.4	515	ggG/ggA	0	not done		synonymous	
SPTLC3		inserm.fr	GRCh37	20	13107243	13107243	+	synonymous_variant	Silent	SNP	C	T	T			CHC258T																					ENST00000399002.2:c.1158C>T	p.Leu386=	p.L386=	ENST00000399002	NM_018327.2	386	ctC/ctT	0	validated		synonymous	
SLC27A4		inserm.fr	GRCh37	9	131107791	131107791	+	synonymous_variant	Silent	SNP	C	T	T			CHC314T																					ENST00000300456.4:c.519C>T	p.Arg173=	p.R173=	ENST00000300456	NM_005094.3	173	cgC/cgT	0	validated		synonymous	
SLC27A4		inserm.fr	GRCh37	9	131117330	131117330	+	splice_acceptor_variant	Splice_Site	SNP	A	T	T			CHC2215T									Valid												ENST00000300456.4:c.1325-2A>T		p.X442_splice	ENST00000300456	NM_005094.3			0	validated		damaging	
PTPN18		inserm.fr	GRCh37	2	131128847	131128847	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000175756.5:c.1000G>T	p.Gly334Ter	p.G334*	ENST00000175756	NM_014369.3	334	Gga/Tga	0	not done		damaging	
EPB41L2		inserm.fr	GRCh37	6	131190774	131190774	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC884T																					ENST00000337057.3:c.2536C>A	p.Pro846Thr	p.P846T	ENST00000337057	NM_001431.3	846	Cca/Aca	0	validated		benign	
CERCAM		inserm.fr	GRCh37	9	131191046	131191046	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000372838.4:c.897C>T	p.Pro299=	p.P299=	ENST00000372838	NM_016174.4	299	ccC/ccT	0	not done		synonymous	
CERCAM		inserm.fr	GRCh37	9	131193496	131193496	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1629T																					ENST00000372838.4:c.1117C>T	p.Pro373Ser	p.P373S	ENST00000372838	NM_016174.4	373	Ccg/Tcg	0	not done		probablydamaging	
MPDZ		inserm.fr	GRCh37	9	13119574	13119574	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000541718.1:c.5306G>A	p.Gly1769Glu	p.G1769E	ENST00000541718	NM_001261407.1	1769	gGa/gAa	0	not done		probablydamaging	
EPB41L2		inserm.fr	GRCh37	6	131276244	131276244	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000337057.3:c.705+1G>A		p.X235_splice	ENST00000337057	NM_001431.3			0	not done		damaging	
ACSL6		inserm.fr	GRCh37	5	131323853	131323853	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC059T																					ENST00000379264.2:c.719G>A	p.Arg240Lys	p.R240K	ENST00000379264	NM_001009185.2	240	aGg/aAg	0	validated		benign	
LOC150527		inserm.fr	GRCh37	2	131334519	131334519	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1734T																					ENST00000409982.1:c.473G>T	p.Ser158Ile	p.S158I	ENST00000409982		158	aGc/aTc	0	validated			
MPDZ		inserm.fr	GRCh37	9	13133832	13133832	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000541718.1:c.4455G>A	p.Glu1485=	p.E1485=	ENST00000541718	NM_001261407.1	1485	gaG/gaA	0	not done		synonymous	
MPDZ		inserm.fr	GRCh37	9	13136118	13136118	+	synonymous_variant	Silent	SNP	A	T	T			CHC2112T																					ENST00000541718.1:c.4356T>A	p.Ser1452=	p.S1452=	ENST00000541718	NM_001261407.1	1452	tcT/tcA	0	not done		synonymous	
SPTAN1		inserm.fr	GRCh37	9	131395509	131395509	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM325T																					ENST00000372739.3:c.7330G>T	p.Asp2444Tyr	p.D2444Y	ENST00000372739	NM_001130438.2	2444	Gac/Tac	0	validated		probablydamaging	
CSF2		inserm.fr	GRCh37	5	131410616	131410616	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000296871.2:c.315C>T	p.Cys105=	p.C105=	ENST00000296871	NM_000758.3	105	tgC/tgT	0	validated		synonymous	
GPR133		inserm.fr	GRCh37	12	131476927	131476927	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1148T																					ENST00000261654.5:c.956A>T	p.Asn319Ile	p.N319I	ENST00000261654	NM_198827.3	319	aAt/aTt	0	not done		probablydamaging	
GPR148		inserm.fr	GRCh37	2	131487735	131487735	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000309926.4:c.1011C>T	p.Ser337=	p.S337=	ENST00000309926	NM_207364.2	337	tcC/tcT	0	not done		synonymous	
AMER3		inserm.fr	GRCh37	2	131519753	131519753	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000423981.1:c.108C>T	p.Pro36=	p.P36=	ENST00000423981	NM_001105194.1	36	ccC/ccT	0	not done		synonymous	
AMER3		inserm.fr	GRCh37	2	131522050	131522050	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1600T																					ENST00000423981.1:c.2405G>T	p.Arg802Leu	p.R802L	ENST00000423981	NM_001105194.1	802	cGg/cTg	0	not done		benign	
ENDOG		inserm.fr	GRCh37	9	131581346	131581346	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1201T																					ENST00000372642.4:c.383C>T	p.Thr128Ile	p.T128I	ENST00000372642	NM_004435.2	128	aCc/aTc	0	not done		probablydamaging	
CCBL1		inserm.fr	GRCh37	9	131600620	131600620	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000302586.3:c.228G>A	p.Leu76=	p.L76=	ENST00000302586	NM_004059.4	76	ctG/ctA	0	not done		synonymous	
EBF3		inserm.fr	GRCh37	10	131640510	131640510	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000368648.3:c.1215C>A	p.Ser405Arg	p.S405R	ENST00000368648	NM_001005463.2	405	agC/agA	0	not done		possiblydamaging	
ARHGEF4		inserm.fr	GRCh37	2	131674035	131674035	+	upstream_gene_variant	5'Flank	SNP	C	T	T			CHC892T																								ENST00000326016	NM_015320.3			0	not done			
ARHGEF4		inserm.fr	GRCh37	2	131674082	131674082	+	upstream_gene_variant	5'Flank	SNP	G	T	T			CHC1708T																								ENST00000326016	NM_015320.3			0	not done			
ARHGEF4		inserm.fr	GRCh37	2	131674683	131674683	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000326016.5:c.-109+49C>T		*37*	ENST00000326016	NM_015320.3			0	not done			
TOLLIP		inserm.fr	GRCh37	11	1316941	1316941	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000317204.6:c.117G>A	p.Ala39=	p.A39=	ENST00000317204	NM_019009.3	39	gcG/gcA	0	not done		synonymous	
DOLK		inserm.fr	GRCh37	9	131707966	131707966	+	stop_retained_variant	Silent	SNP	C	T	T			CHC451T																					ENST00000372586.3:c.1617G>A	p.Ter539=	p.*539=	ENST00000372586	NM_014908.3	539	taG/taA	0	not done		synonymous	
NUP188		inserm.fr	GRCh37	9	131743616	131743616	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1756T																					ENST00000372577.2:c.1463A>T	p.His488Leu	p.H488L	ENST00000372577	NM_015354.2	488	cAt/cTt	0	not done		probablydamaging	
SH3GLB2		inserm.fr	GRCh37	9	131783430	131783430	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC434T									Valid												ENST00000372564.3:c.274G>A	p.Glu92Lys	p.E92K	ENST00000372564	NM_020145.2	92	Gag/Aag	0	validated		probablydamaging	
LOC440563		inserm.fr	GRCh37	1	13183833	13183833	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC432T																					ENST00000449855.2:n.283G>A		*95*	ENST00000449855				0	not done		benign	
PLXNA4		inserm.fr	GRCh37	7	131895834	131895834	+	synonymous_variant	Silent	SNP	C	T	T			CHC2211T																					ENST00000359827.3:c.2166G>A	p.Leu722=	p.L722=	ENST00000359827		722	ctG/ctA	0	not done		synonymous	
ADCY8		inserm.fr	GRCh37	8	131896879	131896879	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000286355.5:c.2040C>A	p.Gly680=	p.G680=	ENST00000286355	NM_001115.2	680	ggC/ggA	0	validated		synonymous	
PLEKHB2		inserm.fr	GRCh37	2	131904237	131904237	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM265T																					ENST00000409158.1:c.584A>T	p.Gln195Leu	p.Q195L	ENST00000409158		195	cAa/cTa	0	validated		probablydamaging	
ADCY8		inserm.fr	GRCh37	8	131916156	131916156	+	synonymous_variant	Silent	SNP	C	T	T			CHC121T																					ENST00000286355.5:c.1773G>A	p.Glu591=	p.E591=	ENST00000286355	NM_001115.2	591	gaG/gaA	0	validated		synonymous	
ACPP		inserm.fr	GRCh37	3	132036385	132036385	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM723T																					ENST00000351273.7:c.85A>T	p.Ser29Cys	p.S29C	ENST00000351273	NM_001134194.1	29	Agt/Tgt	0	validated		benign	
KIF3A		inserm.fr	GRCh37	5	132038278	132038278	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000378746.4:c.1649G>A	p.Trp550Ter	p.W550*	ENST00000378746	NM_007054.5	550	tGg/tAg	0	not done		damaging	
HS6ST2		inserm.fr	GRCh37	X	132092607	132092607	+	synonymous_variant	Silent	SNP	G	T	T			CHC736T																					ENST00000521489.1:c.24C>A	p.Val8=	p.V8=	ENST00000521489	NM_001077188.1	8	gtC/gtA	0	validated		synonymous	
SEPT8		inserm.fr	GRCh37	5	132099554	132099554	+	synonymous_variant	Silent	SNP	C	T	T			CHC1603T																					ENST00000378719.2:c.378G>A	p.Ala126=	p.A126=	ENST00000378719	NM_001098811.1	126	gcG/gcA	0	not done		synonymous	
RAB6D		inserm.fr	GRCh37	2	132120610	132120610	+	non_coding_transcript_exon_variant	RNA	SNP	G	T	T			CHC912T									Valid												ENST00000535957.1:n.1122C>A		*374*	ENST00000535957				0	validated		damaging	
SHROOM1		inserm.fr	GRCh37	5	132161681	132161681	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000378679.3:c.152G>A	p.Gly51Glu	p.G51E	ENST00000378679	NM_001172700.1	51	gGg/gAg	0	not done		benign	
DNAJC13		inserm.fr	GRCh37	3	132186077	132186077	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1775T																					ENST00000260818.6:c.2128G>T	p.Glu710Ter	p.E710*	ENST00000260818	NM_015268.3	710	Gaa/Taa	0	validated		damaging	
GDF9		inserm.fr	GRCh37	5	132199950	132199950	+	synonymous_variant	Silent	SNP	G	T	T			CHC736T																					ENST00000378673.2:c.276C>A	p.Leu92=	p.L92=	ENST00000378673	NM_001288828.1	92	ctC/ctA	0	validated		synonymous	
ENPP1		inserm.fr	GRCh37	6	132201132	132201132	+	synonymous_variant	Silent	SNP	C	T	T			CHC1603T																					ENST00000360971.2:c.2058C>T	p.Asp686=	p.D686=	ENST00000360971	NM_006208.2	686	gaC/gaT	0	not done		synonymous	
MZT2A		inserm.fr	GRCh37	2	132241754	132241754	+	synonymous_variant	Silent	SNP	C	T	T			CHC1598T																					ENST00000309451.6:c.357G>A	p.Leu119=	p.L119=	ENST00000309451	NM_001085365.1	119	ttG/ttA	0	not done		synonymous	
DNAJC13		inserm.fr	GRCh37	3	132249930	132249930	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM529T									Valid												ENST00000260818.6:c.6614G>T	p.Gly2205Val	p.G2205V	ENST00000260818	NM_015268.3	2205	gGa/gTa	0	validated		probablydamaging	
CTGF		inserm.fr	GRCh37	6	132271530	132271530	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC304T									Valid												ENST00000367976.3:c.443G>A	p.Cys148Tyr	p.C148Y	ENST00000367976	NM_001901.2	148	tGc/tAc	0	validated		probablydamaging	
MMP17		inserm.fr	GRCh37	12	132326291	132326291	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000360564.1:c.829C>T	p.Pro277Ser	p.P277S	ENST00000360564	NM_016155.4	277	Ccg/Tcg	0	not done		probablydamaging	
MCM10		inserm.fr	GRCh37	10	13234366	13234366	+	splice_donor_variant	Splice_Site	SNP	G	T	T			BCM735T																					ENST00000484800.2:c.1630+1G>T		p.X544_splice	ENST00000484800				0	validated		damaging	
C9orf50		inserm.fr	GRCh37	9	132375767	132375767	+	synonymous_variant	Silent	SNP	A	T	T			CHC1736T																					ENST00000372478.4:c.990T>A	p.Pro330=	p.P330=	ENST00000372478	NM_199350.3	330	ccT/ccA	0	not done		synonymous	
ULK1		inserm.fr	GRCh37	12	132396633	132396633	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	T	T			CHC1148T																					ENST00000321867.4:c.1095A>T	p.Pro365=	p.P365=	ENST00000321867	NM_003565.2	365	ccA/ccT	0	not done		possiblydamaging	
GPC4		inserm.fr	GRCh37	X	132438831	132438831	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370828.3:c.1214G>A	p.Ser405Asn	p.S405N	ENST00000370828	NM_001448.2	405	aGc/aAc	0	not done		benign	
GPC4		inserm.fr	GRCh37	X	132439928	132439928	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM643T																					ENST00000370828.3:c.1027C>A	p.Pro343Thr	p.P343T	ENST00000370828	NM_001448.2	343	Ccc/Acc	0	validated		benign	
GPC4		inserm.fr	GRCh37	X	132440063	132440063	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370828.3:c.997G>A	p.Val333Met	p.V333M	ENST00000370828	NM_001448.2	333	Gtg/Atg	0	not done		probablydamaging	
GPC4		inserm.fr	GRCh37	X	132458270	132458270	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1185T																					ENST00000370828.3:c.614G>A	p.Arg205His	p.R205H	ENST00000370828	NM_001448.2	205	cGc/cAc	0	not done		probablydamaging	
GPC4		inserm.fr	GRCh37	X	132473299	132473299	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000370828.3:c.231G>A	p.Leu77=	p.L77=	ENST00000370828	NM_001448.2	77	ctG/ctA	0	not done		synonymous	
EP400		inserm.fr	GRCh37	12	132498056	132498056	+	synonymous_variant	Silent	SNP	C	T	T			CHC2103T																					ENST00000389561.2:c.3633C>T	p.Ile1211=	p.I1211=	ENST00000389561	NM_015409.4	1211	atC/atT	0	not done		synonymous	
EP400		inserm.fr	GRCh37	12	132512671	132512671	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000389561.2:c.5219C>T	p.Ala1740Val	p.A1740V	ENST00000389561	NM_015409.4	1740	gCc/gTc	0	not done		benign	
FSTL4		inserm.fr	GRCh37	5	132559886	132559886	+	synonymous_variant	Silent	SNP	C	T	T			CHC1040T																					ENST00000265342.7:c.1335G>A	p.Glu445=	p.E445=	ENST00000265342	NM_015082.1	445	gaG/gaA	0	not done		synonymous	
EP400		inserm.fr	GRCh37	12	132561981	132561981	+	synonymous_variant	Silent	SNP	G	T	T			CHC1603T																					ENST00000389561.2:c.9135G>T	p.Thr3045=	p.T3045=	ENST00000389561	NM_015409.4	3045	acG/acT	0	validated		synonymous	
EP400		inserm.fr	GRCh37	12	132561989	132561989	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC703T									Valid												ENST00000389561.2:c.9143G>T	p.Gly3048Val	p.G3048V	ENST00000389561	NM_015409.4	3048	gGg/gTg	0	validated		probablydamaging	
C9orf78		inserm.fr	GRCh37	9	132595797	132595797	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000372447.3:c.196-1G>A		p.X66_splice	ENST00000372447	NM_016520.2			0	not done		damaging	
DDX51		inserm.fr	GRCh37	12	132628281	132628281	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1725T																					ENST00000397333.3:c.478G>A	p.Gly160Ser	p.G160S	ENST00000397333	NM_175066.3	160	Ggc/Agc	0	validated		benign	
NOC4L		inserm.fr	GRCh37	12	132633439	132633439	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC1753T																					ENST00000330579.1:c.900C>T	p.Leu300=	p.L300=	ENST00000330579	NM_024078.1	300	ctC/ctT	0	not done		damaging	
IER2		inserm.fr	GRCh37	19	13264263	13264263	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1743T																					ENST00000588173.1:c.263G>T	p.Gly88Val	p.G88V	ENST00000588173		88	gGt/gTt	0	not done		benign	
IER2		inserm.fr	GRCh37	19	13264392	13264392	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T																					ENST00000588173.1:c.392G>T	p.Gly131Val	p.G131V	ENST00000588173		131	gGg/gTg	0	validated		possiblydamaging	
FNBP1		inserm.fr	GRCh37	9	132662350	132662350	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM543T																					ENST00000446176.2:c.1581T>A	p.Ser527Arg	p.S527R	ENST00000446176	NM_015033.2	527	agT/agA	0	validated		benign	
GALNT9		inserm.fr	GRCh37	12	132681659	132681659	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC961T																					ENST00000397325.2:c.707G>A	p.Arg236Gln	p.R236Q	ENST00000397325	NM_021808.3	236	cGg/cAg	0	validated		benign	
GALNT9		inserm.fr	GRCh37	12	132683763	132683763	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2141T																					ENST00000397325.2:c.355G>A	p.Gly119Ser	p.G119S	ENST00000397325	NM_021808.3	119	Ggc/Agc	0	not done		benign	
GALNT9		inserm.fr	GRCh37	12	132688086	132688086	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000397325.2:c.129G>A	p.Lys43=	p.K43=	ENST00000397325	NM_021808.3	43	aaG/aaA	0	not done		synonymous	
CHCHD3		inserm.fr	GRCh37	7	132709305	132709305	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000262570.5:c.251+1G>A		p.X84_splice	ENST00000262570	NM_017812.2			0	not done		damaging	
GALNT9		inserm.fr	GRCh37	12	132834388	132834388	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000328957.8:c.799C>A	p.Arg267Ser	p.R267S	ENST00000328957	NM_001122636.1	267	Cgt/Agt	0	not done		benign	
GALNT9		inserm.fr	GRCh37	12	132837669	132837669	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2103T																					ENST00000328957.8:c.626G>A	p.Arg209Gln	p.R209Q	ENST00000328957	NM_001122636.1	209	cGg/cAg	0	not done		probablydamaging	
TAAR9		inserm.fr	GRCh37	6	132860372	132860372	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1035T									Valid												ENST00000434551.1:c.944A>T	p.Tyr315Phe	p.Y315F	ENST00000434551	NM_175057.3	315	tAc/tTc	0	validated		benign	
TAAR8		inserm.fr	GRCh37	6	132874020	132874020	+	synonymous_variant	Silent	SNP	C	T	T			CHC197T																					ENST00000275200.1:c.189C>T	p.His63=	p.H63=	ENST00000275200	NM_053278.1	63	caC/caT	0	validated		synonymous	
GALNT9		inserm.fr	GRCh37	12	132905648	132905648	+	upstream_gene_variant	5'Flank	SNP	G	T	T			CHC1704T																								ENST00000537720				0	not done		benign	
EFR3A		inserm.fr	GRCh37	8	132999867	132999867	+	synonymous_variant	Silent	SNP	G	T	T			CHC798T																					ENST00000254624.5:c.1983G>T	p.Leu661=	p.L661=	ENST00000254624	NM_015137.4	661	ctG/ctT	0	validated		synonymous	
OC90		inserm.fr	GRCh37	8	133036835	133036835	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000254627.3:c.1327G>A	p.Glu443Lys	p.E443K	ENST00000254627	NM_001080399.2	443	Gag/Aag	0	not done		possiblydamaging	
OC90		inserm.fr	GRCh37	8	133045351	133045351	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000254627.3:c.794G>A	p.Gly265Asp	p.G265D	ENST00000254627	NM_001080399.2	265	gGc/gAc	0	not done		probablydamaging	
TCERG1L		inserm.fr	GRCh37	10	133058588	133058588	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2200T																					ENST00000368642.4:c.790G>A	p.Val264Met	p.V264M	ENST00000368642	NM_174937.3	264	Gtg/Atg	0	not done		possiblydamaging	
HHLA1		inserm.fr	GRCh37	8	133088371	133088371	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC361TA									Valid												ENST00000434736.2:c.1354C>A	p.Leu452Ile	p.L452I	ENST00000434736		452	Ctc/Atc	0	validated		benign	
TMEM108		inserm.fr	GRCh37	3	133098833	133098833	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000321871.6:c.278C>T	p.Pro93Leu	p.P93L	ENST00000321871	NM_001136469.1	93	cCt/cTt	0	not done		possiblydamaging	
MPG		inserm.fr	GRCh37	16	133103	133103	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC879T																					ENST00000219431.4:c.368A>T	p.Glu123Val	p.E123V	ENST00000219431	NM_002434.3	123	gAg/gTg	0	not done		probablydamaging	
KCNQ3		inserm.fr	GRCh37	8	133141544	133141544	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2128T																					ENST00000388996.4:c.2584G>A	p.Asp862Asn	p.D862N	ENST00000388996	NM_004519.3	862	Gat/Aat	0	not done		possiblydamaging	
BFSP2		inserm.fr	GRCh37	3	133169284	133169284	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1715T																					ENST00000302334.2:c.867G>T	p.Glu289Asp	p.E289D	ENST00000302334	NM_003571.2	289	gaG/gaT	0	not done		benign	
GPR39		inserm.fr	GRCh37	2	133175251	133175251	+	synonymous_variant	Silent	SNP	C	T	T			CHC1028T																					ENST00000329321.3:c.636C>T	p.Asn212=	p.N212=	ENST00000329321	NM_001508.2	212	aaC/aaT	0	not done		synonymous	
CACNA1A		inserm.fr	GRCh37	19	13318811	13318811	+	synonymous_variant	Silent	SNP	C	T	T			CHC1148T																					ENST00000360228.5:c.6837G>A	p.Pro2279=	p.P2279=	ENST00000360228	NM_001127222.1	2279	ccG/ccA	0	validated		synonymous	
BFSP2		inserm.fr	GRCh37	3	133191243	133191243	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC432T																					ENST00000302334.2:c.1078C>T	p.Leu360Phe	p.L360F	ENST00000302334	NM_003571.2	360	Ctc/Ttc	0	not done		probablydamaging	
P2RX2		inserm.fr	GRCh37	12	133195542	133195542	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000343948.4:c.140C>T	p.Ala47Val	p.A47V	ENST00000343948	NM_001282165.1	47	gCc/gTc	0	not done		benign	
P2RX2		inserm.fr	GRCh37	12	133195558	133195558	+	synonymous_variant	Silent	SNP	C	T	T			CHC322T																					ENST00000343948.4:c.156C>T	p.Ile52=	p.I52=	ENST00000343948	NM_001282165.1	52	atC/atT	0	validated		synonymous	
POLE		inserm.fr	GRCh37	12	133219308	133219308	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000320574.5:c.4736G>A	p.Arg1579His	p.R1579H	ENST00000320574	NM_006231.2	1579	cGc/cAc	0	not done		benign	
POLE		inserm.fr	GRCh37	12	133237576	133237576	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000320574.5:c.3039G>A	p.Trp1013Ter	p.W1013*	ENST00000320574	NM_006231.2	1013	tgG/tgA	0	not done		damaging	
POLE		inserm.fr	GRCh37	12	133245506	133245506	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1148T																					ENST00000320574.5:c.1814G>A	p.Ser605Asn	p.S605N	ENST00000320574	NM_006231.2	605	aGc/aAc	0	not done		benign	
CDV3		inserm.fr	GRCh37	3	133302973	133302973	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB111T									Valid												ENST00000264993.3:c.445G>T	p.Ala149Ser	p.A149S	ENST00000264993	NM_001134422.1	149	Gca/Tca	0	validated		probablydamaging	
EXOC4		inserm.fr	GRCh37	7	133314817	133314817	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1741T																					ENST00000253861.4:c.1437A>T	p.Leu479Phe	p.L479F	ENST00000253861	NM_021807.3	479	ttA/ttT	0	not done		probablydamaging	
TOPBP1		inserm.fr	GRCh37	3	133337181	133337181	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000260810.5:c.3468G>A	p.Arg1156=	p.R1156=	ENST00000260810	NM_007027.3	1156	agG/agA	0	not done		synonymous	
TOPBP1		inserm.fr	GRCh37	3	133358893	133358893	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000260810.5:c.2143G>A	p.Ala715Thr	p.A715T	ENST00000260810	NM_007027.3	715	Gcc/Acc	0	not done		probablydamaging	
GOLGA3		inserm.fr	GRCh37	12	133360641	133360641	+	intron_variant	Intron	SNP	C	T	T			CHC896T																					ENST00000204726.3:c.3267+109G>A		*1089*	ENST00000204726	NM_005895.3			0	not done			
GOLGA3		inserm.fr	GRCh37	12	133373160	133373160	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1598T																					ENST00000204726.3:c.2065G>A	p.Asp689Asn	p.D689N	ENST00000204726	NM_005895.3	689	Gac/Aac	0	not done		benign	
LYPD1		inserm.fr	GRCh37	2	133403669	133403669	+	synonymous_variant	Silent	SNP	G	T	T			CHC314T																					ENST00000397463.2:c.375C>A	p.Leu125=	p.L125=	ENST00000397463	NM_144586.5	125	ctC/ctA	0	validated		synonymous	
TF		inserm.fr	GRCh37	3	133476673	133476673	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1061T									Valid												ENST00000402696.3:c.931G>T	p.Asp311Tyr	p.D311Y	ENST00000402696	NM_001063.3	311	Gac/Tac	0	validated		probablydamaging	
KCNQ3		inserm.fr	GRCh37	8	133492607	133492607	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000388996.4:c.173G>A	p.Gly58Glu	p.G58E	ENST00000388996	NM_004519.3	58	gGg/gAg	0	not done		benign	
SRPRB		inserm.fr	GRCh37	3	133524752	133524752	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC805T																					ENST00000466490.2:c.60G>T	p.Gln20His	p.Q20H	ENST00000466490	NM_021203.3	20	caG/caT	0	not done		benign	
NCKAP5		inserm.fr	GRCh37	2	133540337	133540337	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000409261.1:c.4047G>A	p.Lys1349=	p.K1349=	ENST00000409261	NM_207363.2	1349	aaG/aaA	0	not done		synonymous	
DLC1		inserm.fr	GRCh37	8	13357310	13357310	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000276297.4:c.271C>A	p.His91Asn	p.H91N	ENST00000276297	NM_182643.2	91	Cat/Aat	0	not done		benign	
SLCO2A1		inserm.fr	GRCh37	3	133653572	133653572	+	synonymous_variant	Silent	SNP	C	T	T			BCM543T																					ENST00000310926.4:c.1917G>A	p.Ala639=	p.A639=	ENST00000310926	NM_005630.2	639	gcG/gcA	0	validated		synonymous	
SLCO2A1		inserm.fr	GRCh37	3	133654672	133654672	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000310926.4:c.1760G>A	p.Cys587Tyr	p.C587Y	ENST00000310926	NM_005630.2	587	tGc/tAc	0	not done		probablydamaging	
CDKL3		inserm.fr	GRCh37	5	133655134	133655134	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265334.4:c.707G>A	p.Gly236Glu	p.G236E	ENST00000265334	NM_001113575.1	236	gGg/gAg	0	not done		probablydamaging	
SLCO2A1		inserm.fr	GRCh37	3	133661593	133661593	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC793T									Valid												ENST00000310926.4:c.1481G>A	p.Cys494Tyr	p.C494Y	ENST00000310926	NM_005630.2	494	tGt/tAt	0	validated		probablydamaging	
SLCO2A1		inserm.fr	GRCh37	3	133673822	133673822	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1736T																					ENST00000310926.4:c.613C>A	p.Pro205Thr	p.P205T	ENST00000310926	NM_005630.2	205	Ccc/Acc	0	not done		probablydamaging	
RAB28		inserm.fr	GRCh37	4	13370272	13370272	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000330852.5:c.576G>A	p.Arg192=	p.R192=	ENST00000330852	NM_001017979.2	192	agG/agA	0	not done		synonymous	
ZNF10		inserm.fr	GRCh37	12	133732712	133732712	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1742T																					ENST00000248211.6:c.880G>T	p.Glu294Ter	p.E294*	ENST00000248211	NM_015394.4	294	Gag/Tag	0	not done		damaging	
ABL1		inserm.fr	GRCh37	9	133759498	133759498	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2112T																					ENST00000318560.5:c.1821G>T	p.Lys607Asn	p.K607N	ENST00000318560	NM_005157.4	607	aaG/aaT	0	not done		probablydamaging	
ZNF268		inserm.fr	GRCh37	12	133770078	133770078	+	synonymous_variant	Silent	SNP	C	T	T			CHC1611T																					ENST00000540096.2:c.1017C>T	p.Leu339=	p.L339=	ENST00000540096		339	ctC/ctT	0	not done		synonymous	
ZNF268		inserm.fr	GRCh37	12	133780964	133780964	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM545T									Valid												ENST00000536435.2:c.2692G>T	p.Gly898Trp	p.G898W	ENST00000536435	NM_003415.2	898	Ggg/Tgg	0	validated		probablydamaging	
IGSF9B		inserm.fr	GRCh37	11	133789751	133789751	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC902T																					ENST00000533871.2:c.3869C>A	p.Ala1290Asp	p.A1290D	ENST00000533871	NM_001277285.1	1290	gCc/gAc	0	not done		benign	
FIBCD1		inserm.fr	GRCh37	9	133799181	133799181	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372338.4:c.799G>A	p.Ala267Thr	p.A267T	ENST00000372338	NM_032843.4	267	Gcc/Acc	0	not done		benign	
ANHX		inserm.fr	GRCh37	12	133804413	133804413	+	synonymous_variant	Silent	SNP	C	T	T			CHC1148T																					ENST00000545940.1:c.498G>A	p.Glu166=	p.E166=	ENST00000545940		166	gaG/gaA	0	not done		synonymous	
ANHX		inserm.fr	GRCh37	12	133810704	133810704	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000545940.1:c.239G>A	p.Arg80His	p.R80H	ENST00000545940		80	cGc/cAc	0	not done			
IGSF9B		inserm.fr	GRCh37	11	133816040	133816040	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1040T																					ENST00000533871.2:c.178G>A	p.Val60Ile	p.V60I	ENST00000533871	NM_001277285.1	60	Gta/Ata	0	not done		possiblydamaging	
PHF20L1		inserm.fr	GRCh37	8	133848865	133848865	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1602T																					ENST00000395386.2:c.1990G>T	p.Asp664Tyr	p.D664Y	ENST00000395386	NM_016018.4	664	Gat/Tat	0	not done		probablydamaging	
LRGUK		inserm.fr	GRCh37	7	133876480	133876480	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC801T																					ENST00000285928.2:c.1408G>T	p.Val470Phe	p.V470F	ENST00000285928	NM_144648.1	470	Gtt/Ttt	0	not done		probablydamaging	
RYK		inserm.fr	GRCh37	3	133894581	133894581	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000296084.4:c.1450G>A	p.Asp484Asn	p.D484N	ENST00000296084	NM_001005861.2	484	Gac/Aac	0	not done		probablydamaging	
TG		inserm.fr	GRCh37	8	133894831	133894831	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCB109T									Valid												ENST00000220616.4:c.863A>T	p.Gln288Leu	p.Q288L	ENST00000220616	NM_003235.4	288	cAa/cTa	0	validated		probablydamaging	
TG		inserm.fr	GRCh37	8	133900392	133900392	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1035T									Valid												ENST00000220616.4:c.2340G>T	p.Gln780His	p.Q780H	ENST00000220616	NM_003235.4	780	caG/caT	0	validated		probablydamaging	
TG		inserm.fr	GRCh37	8	133900392	133900392	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM567T																					ENST00000220616.4:c.2340G>T	p.Gln780His	p.Q780H	ENST00000220616	NM_003235.4	780	caG/caT	0	validated		probablydamaging	
LAMC3		inserm.fr	GRCh37	9	133907535	133907535	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361069.4:c.782C>T	p.Ala261Val	p.A261V	ENST00000361069	NM_006059.3	261	gCc/gTc	0	not done		probablydamaging	
PHF15		inserm.fr	GRCh37	5	133914390	133914390	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCM723T																					ENST00000395003.1:c.1756C>T	p.Arg586Ter	p.R586*	ENST00000395003	NM_015288.4	586	Cga/Tga	0	validated		damaging	
JAM3		inserm.fr	GRCh37	11	133939029	133939029	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000299106.4:c.51C>T	p.Asp17=	p.D17=	ENST00000299106		17	gaC/gaT	0	not done		synonymous	
LAMC3		inserm.fr	GRCh37	9	133945092	133945092	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361069.4:c.2924C>T	p.Ala975Val	p.A975V	ENST00000361069	NM_006059.3	975	gCc/gTc	0	not done		benign	
LAMC3		inserm.fr	GRCh37	9	133946872	133946872	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC1205T																					ENST00000361069.4:c.3071C>T	p.Ala1024Val	p.A1024V	ENST00000361069	NM_006059.3	1024	gCa/gTa	0	not done		possiblydamaging	
LAMC3		inserm.fr	GRCh37	9	133962905	133962905	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361069.4:c.4273C>T	p.Arg1425Cys	p.R1425C	ENST00000361069	NM_006059.3	1425	Cgt/Tgt	0	not done		probablydamaging	
LAMC3		inserm.fr	GRCh37	9	133962954	133962954	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM371T																					ENST00000361069.4:c.4322C>T	p.Ser1441Phe	p.S1441F	ENST00000361069	NM_006059.3	1441	tCc/tTc	0	validated		benign	
JAKMIP3		inserm.fr	GRCh37	10	133967480	133967480	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM735T																					ENST00000298622.4:c.2200G>T	p.Asp734Tyr	p.D734Y	ENST00000298622	NM_001105521.2	734	Gac/Tac	0	validated		probablydamaging	
JAKMIP3		inserm.fr	GRCh37	10	133976857	133976857	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000298622.4:c.2359C>T	p.Arg787Cys	p.R787C	ENST00000298622	NM_001105521.2	787	Cgc/Tgc	0	validated		probablydamaging	
SEC24A		inserm.fr	GRCh37	5	134002615	134002615	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC796T																					ENST00000398844.2:c.668C>T	p.Ala223Val	p.A223V	ENST00000398844	NM_021982.2	223	gCc/gTc	0	validated		benign	
DPYSL4		inserm.fr	GRCh37	10	134017363	134017363	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC923T																					ENST00000338492.4:c.1559C>T	p.Ala520Val	p.A520V	ENST00000338492	NM_006426.2	520	gCg/gTg	0	not done		benign	
STK32C		inserm.fr	GRCh37	10	134039030	134039030	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC1594T																					ENST00000298630.3:c.772+1G>A		p.X258_splice	ENST00000298630	NM_173575.2			0	not done		damaging	
STK32C		inserm.fr	GRCh37	10	134040336	134040336	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000298630.3:c.607G>A	p.Ala203Thr	p.A203T	ENST00000298630	NM_173575.2	203	Gct/Act	0	not done		probablydamaging	
NCAPD3		inserm.fr	GRCh37	11	134062650	134062650	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000534548.2:c.1979G>A	p.Gly660Glu	p.G660E	ENST00000534548	NM_015261.2	660	gGg/gAg	0	not done		benign	
NUP214		inserm.fr	GRCh37	9	134062741	134062741	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1556T																					ENST00000359428.5:c.3485A>T	p.Gln1162Leu	p.Q1162L	ENST00000359428	NM_005085.3	1162	cAa/cTa	0	not done		possiblydamaging	
PCDH10		inserm.fr	GRCh37	4	134071725	134071725	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC703T																					ENST00000264360.5:c.430G>T	p.Glu144Ter	p.E144*	ENST00000264360	NM_032961.1	144	Gag/Tag	0	validated		damaging	
PCDH10		inserm.fr	GRCh37	4	134071955	134071955	+	synonymous_variant	Silent	SNP	G	T	T			CHC155T																					ENST00000264360.5:c.660G>T	p.Gly220=	p.G220=	ENST00000264360	NM_032961.1	220	ggG/ggT	0	validated		synonymous	
PCDH10		inserm.fr	GRCh37	4	134072470	134072470	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCB109T									Valid												ENST00000264360.5:c.1175A>T	p.Gln392Leu	p.Q392L	ENST00000264360	NM_032961.1	392	cAg/cTg	0	validated		possiblydamaging	
PCDH10		inserm.fr	GRCh37	4	134072629	134072629	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC097T																					ENST00000264360.5:c.1334C>T	p.Thr445Ile	p.T445I	ENST00000264360	NM_032961.1	445	aCc/aTc	0	not done		possiblydamaging	
PCDH10		inserm.fr	GRCh37	4	134073229	134073229	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000264360.5:c.1934C>T	p.Pro645Leu	p.P645L	ENST00000264360	NM_032961.1	645	cCg/cTg	0	not done		possiblydamaging	
CAMLG		inserm.fr	GRCh37	5	134074418	134074418	+	synonymous_variant	Silent	SNP	G	T	T			CHC1754T																					ENST00000297156.2:c.108G>T	p.Leu36=	p.L36=	ENST00000297156	NM_001745.3	36	ctG/ctT	0	not done		synonymous	
PCDH10		inserm.fr	GRCh37	4	134075482	134075482	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2351T																					ENST00000264360.5:c.2652G>T	p.Glu884Asp	p.E884D	ENST00000264360	NM_032961.1	884	gaG/gaT	0	not done		possiblydamaging	
CACNA1A		inserm.fr	GRCh37	19	13410125	13410125	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000360228.5:c.2322G>A	p.Trp774Ter	p.W774*	ENST00000360228	NM_001127222.1	774	tgG/tgA	0	not done		damaging	
TASP1		inserm.fr	GRCh37	20	13415741	13415741	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC465T									Valid												ENST00000337743.4:c.1046G>A	p.Cys349Tyr	p.C349Y	ENST00000337743	NM_017714.2	349	tGc/tAc	0	validated		possiblydamaging	
GLB1L3		inserm.fr	GRCh37	11	134183918	134183918	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC218T																					ENST00000431683.2:c.1663G>T	p.Glu555Ter	p.E555*	ENST00000431683	NM_001080407.2	555	Gag/Tag	0	validated		damaging	
GLB1L2		inserm.fr	GRCh37	11	134237197	134237197	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM269T									Valid												ENST00000535456.2:c.851A>T	p.Asp284Val	p.D284V	ENST00000535456	NM_138342.3	284	gAc/gTc	0	validated		probablydamaging	
B3GAT1		inserm.fr	GRCh37	11	134253756	134253756	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2128T																					ENST00000524765.1:c.439G>A	p.Glu147Lys	p.E147K	ENST00000524765		147	Gag/Aag	0	not done		benign	
CEP63		inserm.fr	GRCh37	3	134255997	134255997	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	T	T			CHC909T																					ENST00000337090.3:c.442G>T	p.Glu148Ter	p.E148*	ENST00000337090		148	Gaa/Taa	0	not done		damaging	
CEP63		inserm.fr	GRCh37	3	134266310	134266310	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM695T																					ENST00000337090.3:c.1063G>T	p.Gly355Cys	p.G355C	ENST00000337090		355	Ggc/Tgc	0	validated		probablydamaging	
NCKAP5		inserm.fr	GRCh37	2	134275031	134275031	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			BCM337T																					ENST00000409261.1:c.67G>A	p.Val23Met	p.V23M	ENST00000409261	NM_207363.2	23	Gtg/Atg	0	validated		probablydamaging	
CATSPER3		inserm.fr	GRCh37	5	134332151	134332151	+	synonymous_variant	Silent	SNP	C	T	T			BCM371T																					ENST00000282611.6:c.441C>T	p.Gly147=	p.G147=	ENST00000282611	NM_178019.2	147	ggC/ggT	0	validated		synonymous	
CATSPER3		inserm.fr	GRCh37	5	134346077	134346077	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000282611.6:c.951C>T	p.Cys317=	p.C317=	ENST00000282611	NM_178019.2	317	tgC/tgT	0	validated		synonymous	
CATSPER3		inserm.fr	GRCh37	5	134346203	134346203	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T									Valid												ENST00000282611.6:c.1077G>T	p.Gln359His	p.Q359H	ENST00000282611	NM_178019.2	359	caG/caT	0	validated		probablydamaging	
PITX1		inserm.fr	GRCh37	5	134367170	134367170	+	synonymous_variant	Silent	SNP	C	T	T			CHC205T																					ENST00000265340.7:c.198G>A	p.Gly66=	p.G66=	ENST00000265340	NM_002653.4	66	ggG/ggA	0	validated		synonymous	
KY		inserm.fr	GRCh37	3	134369670	134369670	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC902T																					ENST00000423778.2:c.133G>A	p.Gly45Arg	p.G45R	ENST00000423778	NM_178554.4	45	Gga/Aga	0	not done		benign	
RAPGEF1		inserm.fr	GRCh37	9	134459763	134459763	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1616T									Valid												ENST00000372190.3:c.2845G>A	p.Ala949Thr	p.A949T	ENST00000372190	NM_198679.1	949	Gcc/Acc	0	validated		probablydamaging	
ZNF449		inserm.fr	GRCh37	X	134481325	134481325	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000339249.4:c.282C>T	p.Cys94=	p.C94=	ENST00000339249	NM_152695.5	94	tgC/tgT	0	not done		synonymous	
ZNF449		inserm.fr	GRCh37	X	134494275	134494275	+	synonymous_variant	Silent	SNP	A	T	T			CHC1035T																					ENST00000339249.4:c.831A>T	p.Pro277=	p.P277=	ENST00000339249	NM_152695.5	277	ccA/ccT	0	validated		synonymous	
RAPGEF1		inserm.fr	GRCh37	9	134501703	134501703	+	synonymous_variant	Silent	SNP	C	T	T			CHC1531T																					ENST00000372190.3:c.1311G>A	p.Gly437=	p.G437=	ENST00000372190	NM_198679.1	437	ggG/ggA	0	not done		synonymous	
RAPGEF1		inserm.fr	GRCh37	9	134526247	134526247	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372190.3:c.154G>A	p.Gly52Arg	p.G52R	ENST00000372190	NM_198679.1	52	Gga/Aga	0	not done		probablydamaging	
NKX6-2		inserm.fr	GRCh37	10	134599147	134599147	+	synonymous_variant	Silent	SNP	G	T	T			CHC1055T																					ENST00000368592.5:c.306C>A	p.Gly102=	p.G102=	ENST00000368592	NM_177400.2	102	ggC/ggA	0	validated		synonymous	
CALD1		inserm.fr	GRCh37	7	134617869	134617869	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1736T																					ENST00000361675.2:c.349C>T	p.Arg117Trp	p.R117W	ENST00000361675		117	Cgg/Tgg	0	not done		probablydamaging	
TTC40		inserm.fr	GRCh37	10	134649667	134649667	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM545T									Valid												ENST00000368586.5:c.6592G>A	p.Gly2198Arg	p.G2198R	ENST00000368586	NM_001200049.2	2198	Gga/Aga	0	validated		probablydamaging	
TTC40		inserm.fr	GRCh37	10	134671254	134671254	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM275T									Valid												ENST00000368586.5:c.5414C>A	p.Thr1805Asn	p.T1805N	ENST00000368586	NM_001200049.2	1805	aCt/aAt	0	validated		probablydamaging	
TTC40		inserm.fr	GRCh37	10	134692983	134692983	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000368586.5:c.3952G>A	p.Gly1318Ser	p.G1318S	ENST00000368586	NM_001200049.2	1318	Ggc/Agc	0	not done		benign	
CACNA1A		inserm.fr	GRCh37	19	13470567	13470567	+	synonymous_variant	Silent	SNP	G	T	T			CHC1717T																					ENST00000360228.5:c.831C>A	p.Pro277=	p.P277=	ENST00000360228	NM_001127222.1	277	ccC/ccA	0	validated		synonymous	
TTC40		inserm.fr	GRCh37	10	134712564	134712564	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC898T																					ENST00000368586.5:c.3118G>A	p.Ala1040Thr	p.A1040T	ENST00000368586	NM_001200049.2	1040	Gcc/Acc	0	not done		benign	
DDX26B		inserm.fr	GRCh37	X	134715453	134715453	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC429T									Valid												ENST00000370752.4:c.2478G>T	p.Arg826Ser	p.R826S	ENST00000370752	NM_182540.4	826	agG/agT	0	validated		probablydamaging	
TTC40		inserm.fr	GRCh37	10	134732884	134732884	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1744T																					ENST00000368586.5:c.1793G>A	p.Arg598Gln	p.R598Q	ENST00000368586	NM_001200049.2	598	cGg/cAg	0	not done		probablydamaging	
TTC40		inserm.fr	GRCh37	10	134755606	134755606	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000368586.5:c.52G>A	p.Ala18Thr	p.A18T	ENST00000368586	NM_001200049.2	18	Gct/Act	0	not done		benign	
UVSSA		inserm.fr	GRCh37	4	1348569	1348569	+	synonymous_variant	Silent	SNP	C	T	T			CHC1079T																					ENST00000389851.4:c.981C>T	p.His327=	p.H327=	ENST00000389851	NM_020894.2	327	caC/caT	0	not done		synonymous	
WDR91		inserm.fr	GRCh37	7	134891944	134891944	+	synonymous_variant	Silent	SNP	C	T	T			CHC1704T																					ENST00000354475.4:c.522G>A	p.Val174=	p.V174=	ENST00000354475	NM_014149.3	174	gtG/gtA	0	not done		synonymous	
GPR123		inserm.fr	GRCh37	10	134910546	134910546	+	synonymous_variant	Silent	SNP	C	T	T			BCM759T																					ENST00000392607.3:c.72C>T	p.Cys24=	p.C24=	ENST00000392607	NM_001083909.1	24	tgC/tgT	0	validated		synonymous	
GPR123		inserm.fr	GRCh37	10	134910598	134910598	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000392607.3:c.124C>T	p.His42Tyr	p.H42Y	ENST00000392607	NM_001083909.1	42	Cac/Tac	0	not done			
EPHB1		inserm.fr	GRCh37	3	134911520	134911520	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2200T																					ENST00000398015.3:c.1985G>T	p.Arg662Leu	p.R662L	ENST00000398015	NM_004441.4	662	cGt/cTt	0	not done		probablydamaging	
STRA8		inserm.fr	GRCh37	7	134925367	134925367	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM711T																					ENST00000275764.3:c.157C>T	p.Arg53Trp	p.R53W	ENST00000275764	NM_182489.1	53	Cgg/Tgg	0	validated		probablydamaging	
GPR123		inserm.fr	GRCh37	10	134941990	134941990	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000392607.3:c.658C>T	p.Arg220Trp	p.R220W	ENST00000392607	NM_001083909.1	220	Cgg/Tgg	0	validated			
GPR123		inserm.fr	GRCh37	10	134942702	134942702	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000392607.3:c.1370C>T	p.Pro457Leu	p.P457L	ENST00000392607	NM_001083909.1	457	cCc/cTc	0	not done			
GPR123		inserm.fr	GRCh37	10	134942804	134942804	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000392607.3:c.1472C>T	p.Pro491Leu	p.P491L	ENST00000392607	NM_001083909.1	491	cCt/cTt	0	not done			
GPR123		inserm.fr	GRCh37	10	134942807	134942807	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000392607.3:c.1475C>T	p.Ala492Val	p.A492V	ENST00000392607	NM_001083909.1	492	gCc/gTc	0	not done			
MED27		inserm.fr	GRCh37	9	134955174	134955174	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000292035.5:c.58G>A	p.Ala20Thr	p.A20T	ENST00000292035	NM_004269.3	20	Gcc/Acc	0	not done		benign	
SAGE1		inserm.fr	GRCh37	X	134995029	134995029	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2358T																					ENST00000535938.1:c.2688A>T	p.Arg896Ser	p.R896S	ENST00000535938	NM_018666.2	896	agA/agT	0	validated		possiblydamaging	
KNDC1		inserm.fr	GRCh37	10	135000038	135000038	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000304613.3:c.1186C>T	p.Pro396Ser	p.P396S	ENST00000304613		396	Ccc/Tcc	0	not done		benign	
KNDC1		inserm.fr	GRCh37	10	135012266	135012266	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM339T																					ENST00000304613.3:c.2254C>T	p.Arg752Cys	p.R752C	ENST00000304613		752	Cgt/Tgt	0	validated		probablydamaging	
KNDC1		inserm.fr	GRCh37	10	135038208	135038208	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000304613.3:c.5064C>T	p.Asn1688=	p.N1688=	ENST00000304613		1688	aaC/aaT	0	not done		synonymous	
UTF1		inserm.fr	GRCh37	10	135044141	135044141	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1152T																					ENST00000304477.2:c.349C>T	p.Arg117Cys	p.R117C	ENST00000304477	NM_003577.2	117	Cgc/Tgc	0	validated		probablydamaging	
ADAM8		inserm.fr	GRCh37	10	135085777	135085777	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000445355.3:c.877G>A	p.Gly293Ser	p.G293S	ENST00000445355	NM_001109.4	293	Ggt/Agt	0	not done		probablydamaging	
ADAM8		inserm.fr	GRCh37	10	135086486	135086486	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM257T																					ENST00000445355.3:c.611T>A	p.Leu204Gln	p.L204Q	ENST00000445355	NM_001109.4	204	cTg/cAg	0	validated		probablydamaging	
PABPC4L		inserm.fr	GRCh37	4	135121178	135121178	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1601T																					ENST00000529122.2:c.1171G>A	p.Gly391Arg	p.G391R	ENST00000529122	NM_001114734.1	391	Ggg/Agg	0	not done		possiblydamaging	
PABPC4L		inserm.fr	GRCh37	4	135121930	135121930	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1756T																					ENST00000529122.2:c.419G>A	p.Arg140His	p.R140H	ENST00000529122	NM_001114734.1	140	cGt/cAt	0	not done		possiblydamaging	
PTH		inserm.fr	GRCh37	11	13514086	13514086	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1749T																					ENST00000282091.1:c.214C>A	p.Leu72Ile	p.L72I	ENST00000282091	NM_000315.2	72	Cta/Ata	0	not done		benign	
FUOM		inserm.fr	GRCh37	10	135171449	135171449	+	synonymous_variant	Silent	SNP	C	T	T			CHC1736T																					ENST00000368552.3:c.63G>A	p.Arg21=	p.R21=	ENST00000368552	NM_001098483.1	21	cgG/cgA	0	validated		synonymous	
PAOX		inserm.fr	GRCh37	10	135197640	135197640	+	synonymous_variant	Silent	SNP	C	T	T			CHC799T																					ENST00000278060.5:c.1045C>T	p.Leu349=	p.L349=	ENST00000278060	NM_152911.2	349	Ctg/Ttg	0	not done		synonymous	
SETX		inserm.fr	GRCh37	9	135204749	135204749	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC798T									Valid												ENST00000224140.5:c.2236T>A	p.Leu746Met	p.L746M	ENST00000224140	NM_015046.5	746	Ttg/Atg	0	validated		benign	
SETX		inserm.fr	GRCh37	9	135224719	135224719	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000224140.5:c.97G>A	p.Ala33Thr	p.A33T	ENST00000224140	NM_015046.5	33	Gcc/Acc	0	not done		probablydamaging	
LOC619207		inserm.fr	GRCh37	10	135279746	135279746	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			BCM529T																					ENST00000482993.2:n.4006C>T		*1336*	ENST00000482993				0	validated		synonymous	
FHL1		inserm.fr	GRCh37	X	135291575	135291575	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1747T																					ENST00000394155.2:c.862C>T	p.Arg288Ter	p.R288*	ENST00000394155	NM_001159702.2	288	Cga/Tga	0	not done		damaging	
NUP205		inserm.fr	GRCh37	7	135303326	135303326	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1736T																					ENST00000285968.6:c.3938A>T	p.Asp1313Val	p.D1313V	ENST00000285968	NM_015135.2	1313	gAt/gTt	0	not done		probablydamaging	
NUP205		inserm.fr	GRCh37	7	135310023	135310023	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1715T																					ENST00000285968.6:c.4591G>T	p.Glu1531Ter	p.E1531*	ENST00000285968	NM_015135.2	1531	Gaa/Taa	0	not done		damaging	
MAP7D3		inserm.fr	GRCh37	X	135314200	135314200	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1595T																					ENST00000316077.9:c.916C>A	p.Pro306Thr	p.P306T	ENST00000316077	NM_024597.3	306	Ccc/Acc	0	validated		benign	
CYP2E1		inserm.fr	GRCh37	10	135347365	135347365	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1148T																					ENST00000463117.2:c.931G>T	p.Gly311Trp	p.G311W	ENST00000463117		311	Ggg/Tgg	0	not done		probablydamaging	
SYCE1		inserm.fr	GRCh37	10	135370292	135370292	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1739T																					ENST00000343131.5:c.499G>A	p.Gly167Ser	p.G167S	ENST00000343131	NM_001143764.1	167	Ggc/Agc	0	not done		probablydamaging	
HDAC11		inserm.fr	GRCh37	3	13542243	13542243	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2034T																					ENST00000295757.3:c.443G>T	p.Arg148Leu	p.R148L	ENST00000295757	NM_024827.3	148	cGt/cTt	0	not done		possiblydamaging	
GPR112		inserm.fr	GRCh37	X	135426621	135426621	+	synonymous_variant	Silent	SNP	A	T	T			BCB167T																					ENST00000394143.1:c.756A>T	p.Pro252=	p.P252=	ENST00000394143	NM_153834.3	252	ccA/ccT	0	validated		synonymous	
GPR112		inserm.fr	GRCh37	X	135431435	135431435	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM711T																					ENST00000394143.1:c.5570C>T	p.Thr1857Ile	p.T1857I	ENST00000394143	NM_153834.3	1857	aCa/aTa	0	validated		probablydamaging	
FRG2B		inserm.fr	GRCh37	10	135438682	135438682	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC155T																					ENST00000425520.1:c.758C>A	p.Ala253Asp	p.A253D	ENST00000425520	NM_001080998.1	253	gCc/gAc	0	validated		probablydamaging	
FRG2B		inserm.fr	GRCh37	10	135438806	135438806	+	synonymous_variant	Silent	SNP	G	T	T			CHC205T																					ENST00000425520.1:c.634C>A	p.Arg212=	p.R212=	ENST00000425520	NM_001080998.1	212	Cgg/Agg	0	validated		synonymous	
MYB		inserm.fr	GRCh37	6	135513549	135513549	+	synonymous_variant	Silent	SNP	C	T	T			CHC1079T																					ENST00000341911.5:c.615C>T	p.Ala205=	p.A205=	ENST00000341911	NM_001130173.1	205	gcC/gcT	0	not done		synonymous	
GTF3C4		inserm.fr	GRCh37	9	135554419	135554419	+	synonymous_variant	Silent	SNP	G	T	T			CHC2103T																					ENST00000372146.4:c.1413G>T	p.Val471=	p.V471=	ENST00000372146	NM_012204.2	471	gtG/gtT	0	not done		synonymous	
TRPC7		inserm.fr	GRCh37	5	135583229	135583229	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000513104.1:c.1774G>A	p.Ala592Thr	p.A592T	ENST00000513104	NM_020389.2	592	Gcc/Acc	0	not done		probablydamaging	
ZFAT		inserm.fr	GRCh37	8	135615161	135615161	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000377838.3:c.801G>A	p.Gln267=	p.Q267=	ENST00000377838	NM_020863.3	267	caG/caA	0	not done		synonymous	
AK8		inserm.fr	GRCh37	9	135698625	135698625	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC059T																					ENST00000298545.3:c.856G>A	p.Ala286Thr	p.A286T	ENST00000298545	NM_152572.2	286	Gcc/Acc	0	validated		benign	
PPP2R3A		inserm.fr	GRCh37	3	135722097	135722097	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1597T																					ENST00000264977.3:c.1757A>T	p.Glu586Val	p.E586V	ENST00000264977	NM_001190447.1	586	gAg/gTg	0	not done		probablydamaging	
AK8		inserm.fr	GRCh37	9	135742334	135742334	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000298545.3:c.176G>A	p.Arg59Lys	p.R59K	ENST00000298545	NM_152572.2	59	aGg/aAg	0	not done		benign	
ARHGEF6		inserm.fr	GRCh37	X	135761799	135761799	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000250617.6:c.1725G>A	p.Gln575=	p.Q575=	ENST00000250617	NM_004840.2	575	caG/caA	0	not done		synonymous	
ARHGEF6		inserm.fr	GRCh37	X	135764990	135764990	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC307T									Valid												ENST00000250617.6:c.1406G>A	p.Arg469Gln	p.R469Q	ENST00000250617	NM_004840.2	469	cGg/cAg	0	validated		probablydamaging	
MAP3K19		inserm.fr	GRCh37	2	135779336	135779336	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC302T																					ENST00000375845.3:c.87G>A	p.Met29Ile	p.M29I	ENST00000375845	NM_025052.3	29	atG/atA	0	validated		probablydamaging	
TSC1		inserm.fr	GRCh37	9	135787773	135787773	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCB151T																					ENST00000298552.3:c.809C>A	p.Ser270Ter	p.S270*	ENST00000298552	NM_001162426.1	270	tCa/tAa	0	validated		damaging	
ARHGEF6		inserm.fr	GRCh37	X	135825937	135825937	+	synonymous_variant	Silent	SNP	C	T	T			CHC1052T																					ENST00000250617.6:c.468G>A	p.Thr156=	p.T156=	ENST00000250617	NM_004840.2	156	acG/acA	0	validated		synonymous	
RAB3GAP1		inserm.fr	GRCh37	2	135878411	135878411	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2103T																					ENST00000442034.1:c.671C>T	p.Pro224Leu	p.P224L	ENST00000442034	NM_001172435.1	224	cCt/cTt	0	not done		probablydamaging	
EGFL6		inserm.fr	GRCh37	X	13587984	13587984	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000380602.3:c.4C>T	p.Pro2Ser	p.P2S	ENST00000380602		2	Cct/Tct	0	not done		benign	
CEL		inserm.fr	GRCh37	9	135947122	135947122	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC314T																					ENST00000372080.4:c.2242G>T	p.Ala748Ser	p.A748S	ENST00000372080	NM_001807.4	748	Gct/Tct	0	validated		benign	
RALGDS		inserm.fr	GRCh37	9	135978216	135978216	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000372050.3:c.1863G>A	p.Glu621=	p.E621=	ENST00000372050	NM_006266.3	621	gaG/gaA	0	not done		synonymous	
RALGDS		inserm.fr	GRCh37	9	135983464	135983464	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372050.3:c.1108G>A	p.Val370Ile	p.V370I	ENST00000372050	NM_006266.3	370	Gtt/Att	0	not done		benign	
BOD1L1		inserm.fr	GRCh37	4	13602889	13602889	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000040738.5:c.5635G>A	p.Glu1879Lys	p.E1879K	ENST00000040738	NM_148894.2	1879	Gaa/Aaa	0	not done		probablydamaging	
BOD1L1		inserm.fr	GRCh37	4	13603058	13603058	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000040738.5:c.5466G>A	p.Ser1822=	p.S1822=	ENST00000040738	NM_148894.2	1822	tcG/tcA	0	not done		synonymous	
ZRANB3		inserm.fr	GRCh37	2	136073019	136073019	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM703T																					ENST00000264159.6:c.759G>A	p.Met253Ile	p.M253I	ENST00000264159	NM_032143.2	253	atG/atA	0	validated		probablydamaging	
MUM1		inserm.fr	GRCh37	19	1360766	1360766	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000344663.3:c.849G>T	p.Ala283=	p.A283=	ENST00000344663		283	gcG/gcT	0	not done		synonymous	
OBP2B		inserm.fr	GRCh37	9	136081305	136081305	+	splice_region_variant,stop_retained_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000372034.3:c.513G>A	p.Ter171=	p.*171=	ENST00000372034	NM_014581.2	171	taG/taA	0	not done		damaging	
OBP2B		inserm.fr	GRCh37	9	136082680	136082680	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000372034.3:c.321G>A	p.Arg107=	p.R107=	ENST00000372034	NM_014581.2	107	agG/agA	0	not done		synonymous	
ABO		inserm.fr	GRCh37	9	136136762	136136762	+	non_coding_transcript_exon_variant	RNA	SNP	G	T	T			CHC1704T																					ENST00000453660.2:n.126C>A		*42*	ENST00000453660				0	not done		benign	
BOD1L1		inserm.fr	GRCh37	4	13616186	13616186	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000040738.5:c.808G>A	p.Gly270Arg	p.G270R	ENST00000040738	NM_148894.2	270	Gga/Aga	0	not done		probablydamaging	
C9orf96		inserm.fr	GRCh37	9	136256546	136256546	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC609T																					ENST00000371957.3:c.557C>T	p.Ala186Val	p.A186V	ENST00000371957	NM_153710.4	186	gCc/gTc	0	validated		probablydamaging	
CNTN6		inserm.fr	GRCh37	3	1363336	1363336	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000446702.2:c.764C>T	p.Pro255Leu	p.P255L	ENST00000446702		255	cCa/cTa	0	not done		probablydamaging	
ADAMTSL2		inserm.fr	GRCh37	9	136404978	136404978	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC703T																					ENST00000354484.4:c.395G>T	p.Trp132Leu	p.W132L	ENST00000354484	NM_001145320.1	132	tGg/tTg	0	validated		probablydamaging	
ADAMTSL2		inserm.fr	GRCh37	9	136420771	136420771	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000354484.4:c.1368C>T	p.Asn456=	p.N456=	ENST00000354484	NM_001145320.1	456	aaC/aaT	0	validated		synonymous	
R3HDM1		inserm.fr	GRCh37	2	136437872	136437872	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1717T																					ENST00000264160.4:c.2332C>T	p.Pro778Ser	p.P778S	ENST00000264160	NM_015361.2	778	Cct/Tct	0	not done		benign	
FAM163B		inserm.fr	GRCh37	9	136445330	136445330	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000496132.1:c.16G>A	p.Val6Met	p.V6M	ENST00000496132		6	Gtg/Atg	0	validated		probablydamaging	
LDLRAD4		inserm.fr	GRCh37	18	13645522	13645522	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1725T																					ENST00000361205.4:c.787C>T	p.Pro263Ser	p.P263S	ENST00000361205		263	Cca/Tca	0	not done		benign	
FBLN2		inserm.fr	GRCh37	3	13651102	13651102	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC799T																					ENST00000404922.3:c.1508G>T	p.Gly503Val	p.G503V	ENST00000404922	NM_001004019.1	503	gGg/gTg	0	not done		probablydamaging	
DBH		inserm.fr	GRCh37	9	136513020	136513020	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000393056.2:c.1077C>T	p.Arg359=	p.R359=	ENST00000393056	NM_000787.3	359	cgC/cgT	0	not done		synonymous	
KHDRBS3		inserm.fr	GRCh37	8	136555005	136555005	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1152T																					ENST00000355849.5:c.316A>T	p.Lys106Ter	p.K106*	ENST00000355849	NM_006558.1	106	Aag/Tag	0	not done		damaging	
MTFR2		inserm.fr	GRCh37	6	136560761	136560761	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1040T																					ENST00000420702.1:c.712G>A	p.Asp238Asn	p.D238N	ENST00000420702	NM_001099286.1	238	Gac/Aac	0	not done		benign	
LCT		inserm.fr	GRCh37	2	136564732	136564732	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1915T																					ENST00000264162.2:c.4139G>A	p.Gly1380Asp	p.G1380D	ENST00000264162	NM_002299.2	1380	gGc/gAc	0	validated		benign	
LCT		inserm.fr	GRCh37	2	136566221	136566221	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC889T																					ENST00000264162.2:c.3696G>A	p.Met1232Ile	p.M1232I	ENST00000264162	NM_002299.2	1232	atG/atA	0	not done		benign	
LCT		inserm.fr	GRCh37	2	136567526	136567526	+	synonymous_variant	Silent	SNP	A	T	T			BCM545T																					ENST00000264162.2:c.2391T>A	p.Ile797=	p.I797=	ENST00000264162	NM_002299.2	797	atT/atA	0	validated		synonymous	
LCT		inserm.fr	GRCh37	2	136575284	136575284	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000264162.2:c.1334G>A	p.Gly445Asp	p.G445D	ENST00000264162	NM_002299.2	445	gGc/gAc	0	not done		probablydamaging	
LCT		inserm.fr	GRCh37	2	136581482	136581482	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000264162.2:c.896G>A	p.Ser299Asn	p.S299N	ENST00000264162	NM_002299.2	299	aGc/aAc	0	not done		benign	
RANBP9		inserm.fr	GRCh37	6	13659057	13659057	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000011619.3:c.691G>A	p.Gly231Arg	p.G231R	ENST00000011619	NM_005493.2	231	Gga/Aga	0	not done		probablydamaging	
LCT		inserm.fr	GRCh37	2	136594685	136594685	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000264162.2:c.55G>A	p.Gly19Arg	p.G19R	ENST00000264162	NM_002299.2	19	Ggg/Agg	0	not done		probablydamaging	
SARDH		inserm.fr	GRCh37	9	136597661	136597661	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371872.4:c.394G>A	p.Val132Met	p.V132M	ENST00000371872	NM_007101.3	132	Gtg/Atg	0	not done		possiblydamaging	
MCM6		inserm.fr	GRCh37	2	136617002	136617002	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC794T									Valid												ENST00000264156.2:c.1231G>A	p.Glu411Lys	p.E411K	ENST00000264156	NM_005915.5	411	Gag/Aag	0	validated		possiblydamaging	
MCM6		inserm.fr	GRCh37	2	136624180	136624180	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000264156.2:c.734C>A	p.Thr245Lys	p.T245K	ENST00000264156	NM_005915.5	245	aCa/aAa	0	not done		probablydamaging	
MCM6		inserm.fr	GRCh37	2	136626181	136626181	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000264156.2:c.615G>A	p.Lys205=	p.K205=	ENST00000264156	NM_005915.5	205	aaG/aaA	0	not done		damaging	
VAV2		inserm.fr	GRCh37	9	136633592	136633592	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371850.3:c.2561G>A	p.Gly854Asp	p.G854D	ENST00000371850	NM_001134398.1	854	gGc/gAc	0	not done		probablydamaging	
ZIC3		inserm.fr	GRCh37	X	136649846	136649846	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000287538.5:c.996C>T	p.Phe332=	p.F332=	ENST00000287538	NM_003413.3	332	ttC/ttT	0	not done		synonymous	
ZIC3		inserm.fr	GRCh37	X	136651184	136651184	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1731T																					ENST00000287538.5:c.1184A>T	p.Lys395Met	p.K395M	ENST00000287538	NM_003413.3	395	aAg/aTg	0	not done		probablydamaging	
VAV2		inserm.fr	GRCh37	9	136660807	136660807	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371850.3:c.1084G>A	p.Ala362Thr	p.A362T	ENST00000371850	NM_001134398.1	362	Gca/Aca	0	not done		probablydamaging	
VAV2		inserm.fr	GRCh37	9	136677278	136677278	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1738T																					ENST00000371850.3:c.510C>A	p.Asp170Glu	p.D170E	ENST00000371850	NM_001134398.1	170	gaC/gaA	0	not done		possiblydamaging	
MAP7		inserm.fr	GRCh37	6	136683664	136683664	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000454590.1:c.1516G>A	p.Ala506Thr	p.A506T	ENST00000454590	NM_001198614.1	506	Gct/Act	0	not done		benign	
CHRM2		inserm.fr	GRCh37	7	136700518	136700518	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000445907.2:c.906C>T	p.Thr302=	p.T302=	ENST00000445907	NM_001006627.1	302	acC/acT	0	not done		synonymous	
CHRM2		inserm.fr	GRCh37	7	136700759	136700759	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC798T									Valid												ENST00000445907.2:c.1147A>T	p.Lys383Ter	p.K383*	ENST00000445907	NM_001006627.1	383	Aag/Tag	0	validated		damaging	
FBLN2		inserm.fr	GRCh37	3	13672900	13672900	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC879T																					ENST00000404922.3:c.3157C>T	p.Gln1053Ter	p.Q1053*	ENST00000404922	NM_001004019.1	1053	Cag/Tag	0	not done		damaging	
CXCR4		inserm.fr	GRCh37	2	136873228	136873228	+	synonymous_variant	Silent	SNP	C	T	T			CHC2200T																					ENST00000241393.3:c.270G>A	p.Thr90=	p.T90=	ENST00000241393	NM_003467.2	90	acG/acA	0	not done		synonymous	
PTN		inserm.fr	GRCh37	7	136912800	136912800	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000348225.2:c.474G>A	p.Lys158=	p.K158=	ENST00000348225	NM_002825.5	158	aaG/aaA	0	not done		synonymous	
UVSSA		inserm.fr	GRCh37	4	1369239	1369239	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM567T																					ENST00000389851.4:c.1376C>T	p.Ser459Phe	p.S459F	ENST00000389851	NM_020894.2	459	tCt/tTt	0	validated		probablydamaging	
PTN		inserm.fr	GRCh37	7	136939633	136939633	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1743T																					ENST00000348225.2:c.88G>A	p.Ala30Thr	p.A30T	ENST00000348225	NM_002825.5	30	Gct/Act	0	not done		benign	
FRMD4A		inserm.fr	GRCh37	10	13696512	13696512	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1531T																					ENST00000357447.2:c.2954C>A	p.Ala985Asp	p.A985D	ENST00000357447	NM_018027.3	985	gCt/gAt	0	validated		probablydamaging	
UVSSA		inserm.fr	GRCh37	4	1369896	1369896	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000389851.4:c.1508C>T	p.Pro503Leu	p.P503L	ENST00000389851	NM_020894.2	503	cCc/cTc	0	not done		probablydamaging	
DNAH5		inserm.fr	GRCh37	5	13700875	13700875	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1192T																					ENST00000265104.4:c.13597G>A	p.Val4533Ile	p.V4533I	ENST00000265104	NM_001369.2	4533	Gtc/Atc	0	not done		probablydamaging	
MAP3K5		inserm.fr	GRCh37	6	137026247	137026247	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC1629T																					ENST00000359015.4:c.612+1G>A		p.X204_splice	ENST00000359015	NM_005923.3			0	validated		possiblydamaging	
KLHL3		inserm.fr	GRCh37	5	137028004	137028004	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM439T																					ENST00000309755.4:c.496G>A	p.Asp166Asn	p.D166N	ENST00000309755	NM_017415.2	166	Gac/Aac	0	validated		probablydamaging	
MUM1		inserm.fr	GRCh37	19	1370907	1370907	+	synonymous_variant	Silent	SNP	C	T	T			CHC1600T																					ENST00000344663.3:c.1819C>T	p.Leu607=	p.L607=	ENST00000344663		607	Ctg/Ttg	0	not done		synonymous	
GRIN2B		inserm.fr	GRCh37	12	13717378	13717378	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1616T																					ENST00000609686.1:c.2794T>A	p.Tyr932Asn	p.Y932N	ENST00000609686	NM_000834.3	932	Tat/Aat	0	not done		possiblydamaging	
PRAMEF17		inserm.fr	GRCh37	1	13718562	13718562	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC205T																					ENST00000376098.4:c.1025C>T	p.Ala342Val	p.A342V	ENST00000376098	NM_001099851.1	342	gCt/gTt	0	validated		benign	
MYOT		inserm.fr	GRCh37	5	137206408	137206408	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000239926.4:c.68C>T	p.Pro23Leu	p.P23L	ENST00000239926	NM_006790.2	23	cCt/cTt	0	not done		possiblydamaging	
MYOT		inserm.fr	GRCh37	5	137206535	137206535	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000239926.4:c.195C>T	p.Ser65=	p.S65=	ENST00000239926	NM_006790.2	65	tcC/tcT	0	not done		synonymous	
PKD2L2		inserm.fr	GRCh37	5	137235248	137235248	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC892T																					ENST00000290431.5:c.568G>T	p.Gly190Ter	p.G190*	ENST00000290431	NM_014386.3	190	Gga/Tga	0	not done		damaging	
PKD2L2		inserm.fr	GRCh37	5	137244556	137244556	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1137T																					ENST00000290431.5:c.1249A>T	p.Ile417Leu	p.I417L	ENST00000290431	NM_014386.3	417	Ata/Tta	0	not done		possiblydamaging	
DGKI		inserm.fr	GRCh37	7	137262031	137262031	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000288490.5:c.1699-1G>A		p.X567_splice	ENST00000288490	NM_004717.2			0	not done		damaging	
RXRA		inserm.fr	GRCh37	9	137313633	137313633	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1598T																					ENST00000481739.1:c.892G>T	p.Val298Phe	p.V298F	ENST00000481739	NM_002957.4	298	Gtc/Ttc	0	not done		possiblydamaging	
IL20RA		inserm.fr	GRCh37	6	137329841	137329841	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC902T																					ENST00000316649.5:c.619T>A	p.Trp207Arg	p.W207R	ENST00000316649	NM_014432.3	207	Tgg/Agg	0	not done		benign	
IL20RA		inserm.fr	GRCh37	6	137332444	137332444	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM545T																					ENST00000316649.5:c.370G>A	p.Ala124Thr	p.A124T	ENST00000316649	NM_014432.3	124	Gct/Act	0	validated		benign	
WNT8A		inserm.fr	GRCh37	5	137420224	137420224	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000398754.1:c.140C>T	p.Ala47Val	p.A47V	ENST00000398754	NM_058244.2	47	gCc/gTc	0	not done		possiblydamaging	
UVSSA		inserm.fr	GRCh37	4	1374666	1374666	+	splice_acceptor_variant	Splice_Site	SNP	A	T	T			CHC1717T																					ENST00000389851.4:c.1753-2A>T		p.X585_splice	ENST00000389851	NM_020894.2			0	not done		possiblydamaging	
NME5		inserm.fr	GRCh37	5	137474464	137474464	+	synonymous_variant	Silent	SNP	C	T	T			BCM543T																					ENST00000265191.2:c.6G>A	p.Glu2=	p.E2=	ENST00000265191	NM_003551.2	2	gaG/gaA	0	validated		synonymous	
IL22RA2		inserm.fr	GRCh37	6	137476138	137476138	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000296980.2:c.412G>A	p.Ala138Thr	p.A138T	ENST00000296980	NM_052962.2	138	Gcc/Acc	0	not done		possiblydamaging	
SOX14		inserm.fr	GRCh37	3	137484244	137484244	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000306087.1:c.618C>T	p.Ala206=	p.A206=	ENST00000306087	NM_004189.3	206	gcC/gcT	0	not done		synonymous	
BRD8		inserm.fr	GRCh37	5	137500654	137500654	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000254900.5:c.1480G>A	p.Gly494Arg	p.G494R	ENST00000254900	NM_139199.1	494	Gga/Aga	0	not done		possiblydamaging	
GFRA3		inserm.fr	GRCh37	5	137588720	137588720	+	synonymous_variant	Silent	SNP	C	T	T			BCM711T																					ENST00000274721.3:c.1140G>A	p.Gln380=	p.Q380=	ENST00000274721	NM_001496.3	380	caG/caA	0	validated		synonymous	
GFRA3		inserm.fr	GRCh37	5	137589513	137589513	+	synonymous_variant	Silent	SNP	G	T	T			CHC121T																					ENST00000274721.3:c.966C>A	p.Gly322=	p.G322=	ENST00000274721	NM_001496.3	322	ggC/ggA	0	validated		synonymous	
GFRA3		inserm.fr	GRCh37	5	137593567	137593567	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1556T																					ENST00000274721.3:c.546C>A	p.Tyr182Ter	p.Y182*	ENST00000274721	NM_001496.3	182	taC/taA	0	not done		damaging	
GFRA3		inserm.fr	GRCh37	5	137595328	137595328	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000274721.3:c.390G>A	p.Glu130=	p.E130=	ENST00000274721	NM_001496.3	130	gaG/gaA	0	not done		synonymous	
COL5A1		inserm.fr	GRCh37	9	137630624	137630624	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000371817.3:c.1464C>T	p.Pro488=	p.P488=	ENST00000371817	NM_001278074.1	488	ccC/ccT	0	not done		synonymous	
COL5A1		inserm.fr	GRCh37	9	137644441	137644441	+	synonymous_variant	Silent	SNP	C	T	T			CHC1626T																					ENST00000371817.3:c.1669C>T	p.Leu557=	p.L557=	ENST00000371817	NM_001278074.1	557	Ctg/Ttg	0	not done		synonymous	
COL5A1		inserm.fr	GRCh37	9	137648663	137648663	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	T	T			CHC433T									Valid												ENST00000371817.3:c.1880A>T	p.Lys627Met	p.K627M	ENST00000371817	NM_001278074.1	627	aAg/aTg	0	validated		probablydamaging	
OFD1		inserm.fr	GRCh37	X	13767608	13767608	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1725T									Valid												ENST00000340096.6:c.891A>T	p.Arg297Ser	p.R297S	ENST00000340096	NM_003611.2	297	agA/agT	0	validated		probablydamaging	
COL5A1		inserm.fr	GRCh37	9	137687109	137687109	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1044T																					ENST00000371817.3:c.2747G>T	p.Gly916Val	p.G916V	ENST00000371817	NM_001278074.1	916	gGt/gTt	0	not done		probablydamaging	
COL5A1		inserm.fr	GRCh37	9	137703221	137703221	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC801T																					ENST00000371817.3:c.3565G>T	p.Gly1189Ter	p.G1189*	ENST00000371817	NM_001278074.1	1189	Gga/Tga	0	not done		damaging	
COL5A1		inserm.fr	GRCh37	9	137715269	137715269	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371817.3:c.4652C>T	p.Thr1551Ile	p.T1551I	ENST00000371817	NM_001278074.1	1551	aCt/aTt	0	not done		benign	
COL5A1		inserm.fr	GRCh37	9	137716644	137716644	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371817.3:c.4897C>T	p.Gln1633Ter	p.Q1633*	ENST00000371817	NM_001278074.1	1633	Cag/Tag	0	not done		damaging	
CLDN18		inserm.fr	GRCh37	3	137729109	137729109	+	synonymous_variant	Silent	SNP	C	T	T			BCM759T																					ENST00000183605.5:c.42C>T	p.Ser14=	p.S14=	ENST00000183605	NM_016369.3	14	tcC/tcT	0	validated		synonymous	
KDM3B		inserm.fr	GRCh37	5	137756543	137756543	+	synonymous_variant	Silent	SNP	C	T	T			CHC1531T																					ENST00000314358.5:c.3864C>T	p.Thr1288=	p.T1288=	ENST00000314358	NM_016604.3	1288	acC/acT	0	not done		synonymous	
KDM3B		inserm.fr	GRCh37	5	137766069	137766069	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC433T									Valid												ENST00000314358.5:c.5025G>T	p.Gln1675His	p.Q1675H	ENST00000314358	NM_016604.3	1675	caG/caT	0	validated		probablydamaging	
KDM3B		inserm.fr	GRCh37	5	137767206	137767206	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC891T																					ENST00000314358.5:c.5163G>T	p.Arg1721Ser	p.R1721S	ENST00000314358	NM_016604.3	1721	agG/agT	0	not done		probablydamaging	
DZIP1L		inserm.fr	GRCh37	3	137786401	137786401	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000327532.2:c.1974G>A	p.Glu658=	p.E658=	ENST00000327532	NM_173543.2	658	gaG/gaA	0	not done		synonymous	
DZIP1L		inserm.fr	GRCh37	3	137786424	137786424	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC703T																					ENST00000327532.2:c.1951T>A	p.Ser651Thr	p.S651T	ENST00000327532	NM_173543.2	651	Tct/Act	0	validated		probablydamaging	
AKR1D1		inserm.fr	GRCh37	7	137792178	137792178	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2352T																					ENST00000242375.3:c.707C>T	p.Pro236Leu	p.P236L	ENST00000242375	NM_005989.3	236	cCa/cTa	0	not done		possiblydamaging	
DZIP1L		inserm.fr	GRCh37	3	137803022	137803022	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC121T																					ENST00000327532.2:c.1136G>A	p.Cys379Tyr	p.C379Y	ENST00000327532	NM_173543.2	379	tGc/tAc	0	validated		benign	
FCN1		inserm.fr	GRCh37	9	137809689	137809689	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000371806.3:c.29G>A	p.Arg10Gln	p.R10Q	ENST00000371806	NM_002003.3	10	cGg/cAg	0	validated		possiblydamaging	
THSD7B		inserm.fr	GRCh37	2	137852511	137852511	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000272643.3:c.1019C>T	p.Ser340Phe	p.S340F	ENST00000272643		340	tCc/tTc	0	not done		benign	
HSPA9		inserm.fr	GRCh37	5	137903234	137903234	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1154T																					ENST00000297185.3:c.626G>A	p.Gly209Asp	p.G209D	ENST00000297185	NM_004134.6	209	gGc/gAc	0	not done		probablydamaging	
DNAH5		inserm.fr	GRCh37	5	13792153	13792153	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2208T																					ENST00000265104.4:c.8398G>A	p.Val2800Ile	p.V2800I	ENST00000265104	NM_001369.2	2800	Gtc/Atc	0	not done		benign	
OLFM1		inserm.fr	GRCh37	9	138011635	138011635	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000252854.4:c.1015C>T	p.Leu339Phe	p.L339F	ENST00000252854	NM_014279.4	339	Ctc/Ttc	0	not done		possiblydamaging	
DNAH5		inserm.fr	GRCh37	5	13810255	13810255	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2351T																					ENST00000265104.4:c.7522C>A	p.Leu2508Met	p.L2508M	ENST00000265104	NM_001369.2	2508	Ctg/Atg	0	not done		possiblydamaging	
CTNNA1		inserm.fr	GRCh37	5	138145888	138145888	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1739T																					ENST00000302763.7:c.463A>T	p.Lys155Ter	p.K155*	ENST00000302763	NM_001903.2	155	Aaa/Taa	0	not done		damaging	
THSD7B		inserm.fr	GRCh37	2	138169187	138169187	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1531T																					ENST00000272643.3:c.2704A>T	p.Arg902Ter	p.R902*	ENST00000272643		902	Aga/Tga	0	not done		damaging	
THSD7B		inserm.fr	GRCh37	2	138169285	138169285	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC097T																					ENST00000272643.3:c.2802G>T	p.Trp934Cys	p.W934C	ENST00000272643		934	tgG/tgT	0	not done		probablydamaging	
ESYT3		inserm.fr	GRCh37	3	138186404	138186404	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000389567.4:c.1171C>T	p.Leu391=	p.L391=	ENST00000389567	NM_031913.3	391	Ctg/Ttg	0	not done		damaging	
ESYT3		inserm.fr	GRCh37	3	138189755	138189755	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000389567.4:c.1627C>T	p.Leu543=	p.L543=	ENST00000389567	NM_031913.3	543	Ctg/Ttg	0	not done		synonymous	
DNAH5		inserm.fr	GRCh37	5	13820532	13820532	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1741T																					ENST00000265104.4:c.6764G>A	p.Arg2255Gln	p.R2255Q	ENST00000265104	NM_001369.2	2255	cGa/cAa	0	not done		probablydamaging	
THSD7B		inserm.fr	GRCh37	2	138208541	138208541	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM791T																					ENST00000272643.3:c.3086A>T	p.Glu1029Val	p.E1029V	ENST00000272643		1029	gAa/gTa	0	validated		probablydamaging	
LRRTM2		inserm.fr	GRCh37	5	138209629	138209629	+	synonymous_variant	Silent	SNP	C	T	T			CHC1566T																					ENST00000274711.6:c.621G>A	p.Leu207=	p.L207=	ENST00000274711	NM_015564.2	207	ctG/ctA	0	not done		synonymous	
C9orf62		inserm.fr	GRCh37	9	138235941	138235941	+	synonymous_variant	Silent	SNP	C	T	T			BCB231T																					ENST00000320778.2:c.147C>T	p.Phe49=	p.F49=	ENST00000320778	NM_173520.2	49	ttC/ttT	0	validated		synonymous	
C9orf62		inserm.fr	GRCh37	9	138236001	138236001	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000320778.2:c.207C>T	p.Gly69=	p.G69=	ENST00000320778	NM_173520.2	69	ggC/ggT	0	not done		synonymous	
MRPS2		inserm.fr	GRCh37	9	138392920	138392920	+	synonymous_variant	Silent	SNP	G	T	T			CHC197T																					ENST00000371785.1:c.120G>T	p.Thr40=	p.T40=	ENST00000371785		40	acG/acT	0	validated		synonymous	
PCDH18		inserm.fr	GRCh37	4	138451760	138451760	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000344876.4:c.1483G>A	p.Gly495Arg	p.G495R	ENST00000344876	NM_019035.3	495	Gga/Aga	0	not done		probablydamaging	
PAEP		inserm.fr	GRCh37	9	138453698	138453698	+	synonymous_variant	Silent	SNP	G	T	T			CHC320T																					ENST00000479141.1:c.51G>T	p.Pro17=	p.P17=	ENST00000479141	NM_002571.2	17	ccG/ccT	0	validated		synonymous	
PAEP		inserm.fr	GRCh37	9	138456151	138456151	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000479141.1:c.372C>T	p.Cys124=	p.C124=	ENST00000479141	NM_002571.2	124	tgC/tgT	0	not done		synonymous	
PIK3CB		inserm.fr	GRCh37	3	138461423	138461423	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000289153.2:c.598G>A	p.Ala200Thr	p.A200T	ENST00000289153	NM_006219.2	200	Gct/Act	0	not done		benign	
KIAA1549		inserm.fr	GRCh37	7	138524987	138524987	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC320T									Valid												ENST00000422774.1:c.5489C>A	p.Ala1830Asp	p.A1830D	ENST00000422774		1830	gCc/gAc	0	validated		probablydamaging	
KIAA1549		inserm.fr	GRCh37	7	138524988	138524988	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC320T																					ENST00000422774.1:c.5488G>A	p.Ala1830Thr	p.A1830T	ENST00000422774		1830	Gcc/Acc	0	validated		probablydamaging	
FRMD4A		inserm.fr	GRCh37	10	13852888	13852888	+	synonymous_variant	Silent	SNP	C	T	T			CHC1715T																					ENST00000357447.2:c.132G>A	p.Glu44=	p.E44=	ENST00000357447	NM_018027.3	44	gaG/gaA	0	not done		synonymous	
KIAA1549		inserm.fr	GRCh37	7	138554290	138554290	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC465T									Valid												ENST00000422774.1:c.4769G>A	p.Arg1590Lys	p.R1590K	ENST00000422774		1590	aGg/aAg	0	validated		probablydamaging	
KIAA1549		inserm.fr	GRCh37	7	138566137	138566137	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1052T									Valid												ENST00000422774.1:c.4226G>A	p.Gly1409Glu	p.G1409E	ENST00000422774		1409	gGa/gAa	0	validated		probablydamaging	
KIAA1549		inserm.fr	GRCh37	7	138579124	138579124	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000422774.1:c.3996G>A	p.Gln1332=	p.Q1332=	ENST00000422774		1332	caG/caA	0	not done		synonymous	
SOHLH1		inserm.fr	GRCh37	9	138590217	138590217	+	synonymous_variant	Silent	SNP	C	T	T			BCM759T																					ENST00000425225.1:c.303G>A	p.Leu101=	p.L101=	ENST00000425225	NM_001101677.1	101	ctG/ctA	0	validated		synonymous	
KCNT1		inserm.fr	GRCh37	9	138594210	138594210	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371757.2:c.106C>T	p.Pro36Ser	p.P36S	ENST00000371757	NM_020822.2	36	Ccc/Tcc	0	not done		benign	
KIAA1549		inserm.fr	GRCh37	7	138602717	138602717	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000422774.1:c.1655G>A	p.Ser552Asn	p.S552N	ENST00000422774		552	aGc/aAc	0	not done		benign	
KCNT1		inserm.fr	GRCh37	9	138649076	138649076	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	T	T			BCM501T																					ENST00000371757.2:c.675G>T	p.Thr225=	p.T225=	ENST00000371757	NM_020822.2	225	acG/acT	0	validated		damaging	
DNAH5		inserm.fr	GRCh37	5	13865965	13865965	+	synonymous_variant	Silent	SNP	C	T	T			CHC433T																					ENST00000265104.4:c.4167G>A	p.Glu1389=	p.E1389=	ENST00000265104	NM_001369.2	1389	gaG/gaA	0	validated		synonymous	
KCNT1		inserm.fr	GRCh37	9	138662222	138662222	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T																					ENST00000371757.2:c.1698G>T	p.Met566Ile	p.M566I	ENST00000371757	NM_020822.2	566	atG/atT	0	validated		benign	
KCNT1		inserm.fr	GRCh37	9	138678192	138678192	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000371757.2:c.3327C>T	p.Ser1109=	p.S1109=	ENST00000371757	NM_020822.2	1109	agC/agT	0	not done		synonymous	
MZB1		inserm.fr	GRCh37	5	138725409	138725409	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM531T																					ENST00000302125.8:c.137C>A	p.Ala46Asp	p.A46D	ENST00000302125	NM_016459.3	46	gCt/gAt	0	validated		benign	
PROB1		inserm.fr	GRCh37	5	138728225	138728225	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000434752.2:c.2546C>A	p.Ala849Asp	p.A849D	ENST00000434752	NM_001161546.1	849	gCc/gAc	0	validated		possiblydamaging	
YJU2B		inserm.fr	GRCh37	19	13873241	13873241	+	synonymous_variant	Silent	SNP	C	T	T			CHC2128T																					ENST00000586600.1:c.702C>T	p.His234=	p.H234=	ENST00000586600		234	caC/caT	0	not done		synonymous	
PRR23B		inserm.fr	GRCh37	3	138739118	138739118	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000329447.5:c.386G>A	p.Gly129Asp	p.G129D	ENST00000329447	NM_001013650.2	129	gGc/gAc	0	not done		probablydamaging	
ZC3HAV1		inserm.fr	GRCh37	7	138764471	138764471	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM739T																					ENST00000242351.5:c.1216C>A	p.Leu406Ile	p.L406I	ENST00000242351	NM_020119.3	406	Ctt/Att	0	validated		benign	
ZC3HAV1		inserm.fr	GRCh37	7	138774480	138774480	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000242351.5:c.334G>A	p.Val112Ile	p.V112I	ENST00000242351	NM_020119.3	112	Gtt/Att	0	not done		benign	
UBAC1		inserm.fr	GRCh37	9	138830095	138830095	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371756.3:c.1075G>A	p.Gly359Ser	p.G359S	ENST00000371756	NM_016172.2	359	Ggc/Agc	0	not done		probablydamaging	
UBAC1		inserm.fr	GRCh37	9	138836906	138836906	+	synonymous_variant	Silent	SNP	G	T	T			CHC796T																					ENST00000371756.3:c.844C>A	p.Arg282=	p.R282=	ENST00000371756	NM_016172.2	282	Cgg/Agg	0	validated		synonymous	
TTC26		inserm.fr	GRCh37	7	138845695	138845695	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000464848.1:c.719C>T	p.Ala240Val	p.A240V	ENST00000464848	NM_001287513.1	240	gCa/gTa	0	not done		benign	
C19orf53		inserm.fr	GRCh37	19	13885319	13885319	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2128T																					ENST00000588234.1:c.28G>T	p.Ala10Ser	p.A10S	ENST00000588234	NM_014047.2	10	Gcg/Tcg	0	not done		benign	
TMEM173		inserm.fr	GRCh37	5	138855955	138855955	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000330794.4:c.1031G>A	p.Gly344Asp	p.G344D	ENST00000330794	NM_198282.2	344	gGc/gAc	0	not done		benign	
ATP11C		inserm.fr	GRCh37	X	138864779	138864779	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000327569.3:c.1888G>A	p.Glu630Lys	p.E630K	ENST00000327569	NM_173694.4	630	Gaa/Aaa	0	not done		benign	
UBN2		inserm.fr	GRCh37	7	138968747	138968747	+	synonymous_variant	Silent	SNP	G	T	T			CHC1741T																					ENST00000473989.3:c.3096G>T	p.Ser1032=	p.S1032=	ENST00000473989	NM_173569.3	1032	tcG/tcT	0	not done		synonymous	
LOC100507462		inserm.fr	GRCh37	6	139085497	139085497	+		IGR	SNP	C	T	T			CHC703T																												0	validated			
PDPN		inserm.fr	GRCh37	1	13910505	13910505	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1741T																					ENST00000294489.6:c.205G>T	p.Glu69Ter	p.E69*	ENST00000294489		69	Gag/Tag	0	not done		damaging	
SLC7A11		inserm.fr	GRCh37	4	139106331	139106331	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC301T									Valid												ENST00000280612.5:c.859G>A	p.Ala287Thr	p.A287T	ENST00000280612	NM_014331.3	287	Gcc/Acc	0	validated		probablydamaging	
LUC7L2		inserm.fr	GRCh37	7	139106943	139106943	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000354926.4:c.1036G>T	p.Ala346Ser	p.A346S	ENST00000354926	NM_001270643.1	346	Gca/Tca	0	not done		benign	
ECT2L		inserm.fr	GRCh37	6	139164293	139164293	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC898T																					ENST00000423192.1:c.520G>T	p.Asp174Tyr	p.D174Y	ENST00000423192		174	Gat/Tat	0	not done		probablydamaging	
PSD2		inserm.fr	GRCh37	5	139189378	139189378	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC197T																					ENST00000274710.3:c.353C>T	p.Ala118Val	p.A118V	ENST00000274710	NM_032289.2	118	gCt/gTt	0	validated		benign	
ECT2L		inserm.fr	GRCh37	6	139202114	139202114	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000423192.1:c.1686C>T	p.Asp562=	p.D562=	ENST00000423192		562	gaC/gaT	0	not done		synonymous	
GPSM1		inserm.fr	GRCh37	9	139228947	139228947	+	synonymous_variant	Silent	SNP	C	T	T			CHC1734T																					ENST00000440944.1:c.112C>T	p.Leu38=	p.L38=	ENST00000440944	NM_001145638.2	38	Ctg/Ttg	0	not done		synonymous	
NRG2		inserm.fr	GRCh37	5	139232518	139232518	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1744T																					ENST00000361474.1:c.1387C>A	p.Leu463Met	p.L463M	ENST00000361474	NM_004883.2	463	Ctg/Atg	0	not done		probablydamaging	
GPSM1		inserm.fr	GRCh37	9	139243199	139243199	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000440944.1:c.1258C>T	p.Leu420=	p.L420=	ENST00000440944	NM_001145638.2	420	Ctg/Ttg	0	not done		synonymous	
SNAPC4		inserm.fr	GRCh37	9	139272853	139272853	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000298532.2:c.3426G>A	p.Arg1142=	p.R1142=	ENST00000298532	NM_003086.2	1142	agG/agA	0	not done		synonymous	
HIPK2		inserm.fr	GRCh37	7	139281485	139281485	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1738T																					ENST00000406875.3:c.2695G>A	p.Glu899Lys	p.E899K	ENST00000406875	NM_022740.4	899	Gaa/Aaa	0	not done		possiblydamaging	
SDCCAG3		inserm.fr	GRCh37	9	139301875	139301875	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1747T																					ENST00000357365.3:c.541G>A	p.Asp181Asn	p.D181N	ENST00000357365	NM_001039707.1	181	Gac/Aac	0	validated		benign	
ZSWIM4		inserm.fr	GRCh37	19	13930209	13930209	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1209T																					ENST00000254323.2:c.1612G>T	p.Glu538Ter	p.E538*	ENST00000254323	NM_023072.2	538	Gag/Tag	0	not done		damaging	
DNAH5		inserm.fr	GRCh37	5	13931252	13931252	+	synonymous_variant	Silent	SNP	G	T	T			CHC1531T																					ENST00000265104.4:c.159C>A	p.Thr53=	p.T53=	ENST00000265104	NM_001369.2	53	acC/acA	0	not done		synonymous	
PDPN		inserm.fr	GRCh37	1	13933683	13933683	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000294489.6:c.311C>T	p.Pro104Leu	p.P104L	ENST00000294489		104	cCa/cTa	0	validated		possiblydamaging	
SEC16A		inserm.fr	GRCh37	9	139358967	139358967	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC902T																					ENST00000313050.7:c.4351T>A	p.Cys1451Ser	p.C1451S	ENST00000313050	NM_014866.1	1451	Tgt/Agt	0	not done		probablydamaging	
SEC16A		inserm.fr	GRCh37	9	139371539	139371539	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000313050.7:c.529G>A	p.Gly177Arg	p.G177R	ENST00000313050	NM_014866.1	177	Ggg/Agg	0	not done		benign	
NOTCH1		inserm.fr	GRCh37	9	139417641	139417641	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC2321T																					ENST00000277541.6:c.404-1G>A		p.X135_splice	ENST00000277541	NM_017617.3			0	validated		damaging	
NXPH2		inserm.fr	GRCh37	2	139428545	139428545	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1717T																					ENST00000272641.3:c.742G>A	p.Val248Met	p.V248M	ENST00000272641	NM_007226.2	248	Gtg/Atg	0	not done		probablydamaging	
NXPH2		inserm.fr	GRCh37	2	139429083	139429083	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000272641.3:c.204C>A	p.Pro68=	p.P68=	ENST00000272641	NM_007226.2	68	ccC/ccA	0	not done		synonymous	
DNAH5		inserm.fr	GRCh37	5	13944528	13944528	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265104.4:c.20G>A	p.Arg7Lys	p.R7K	ENST00000265104	NM_001369.2	7	aGa/aAa	0	not done		benign	
HECA		inserm.fr	GRCh37	6	139487772	139487772	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2029T																					ENST00000367658.2:c.623A>T	p.Glu208Val	p.E208V	ENST00000367658	NM_016217.2	208	gAg/gTg	0	not done		probablydamaging	
HECA		inserm.fr	GRCh37	6	139488386	139488386	+	synonymous_variant	Silent	SNP	C	T	T			CHC2362T																					ENST00000367658.2:c.1237C>T	p.Leu413=	p.L413=	ENST00000367658	NM_016217.2	413	Ctg/Ttg	0	validated		synonymous	
SOX3		inserm.fr	GRCh37	X	139586506	139586506	+	synonymous_variant	Silent	SNP	A	T	T			CHC1534T																					ENST00000370536.2:c.720T>A	p.Ala240=	p.A240=	ENST00000370536	NM_005634.2	240	gcT/gcA	0	validated		synonymous	
TXLNB		inserm.fr	GRCh37	6	139609677	139609677	+	synonymous_variant	Silent	SNP	G	T	T			CHC1629T																					ENST00000358430.3:c.360C>A	p.Pro120=	p.P120=	ENST00000358430	NM_153235.3	120	ccC/ccA	0	not done		synonymous	
COL22A1		inserm.fr	GRCh37	8	139616994	139616994	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000303045.6:c.4123G>A	p.Gly1375Arg	p.G1375R	ENST00000303045	NM_152888.1	1375	Gga/Aga	0	not done		probablydamaging	
COL22A1		inserm.fr	GRCh37	8	139647258	139647258	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1148T																					ENST00000303045.6:c.3604C>A	p.Pro1202Thr	p.P1202T	ENST00000303045	NM_152888.1	1202	Cca/Aca	0	not done		possiblydamaging	
LCN15		inserm.fr	GRCh37	9	139658183	139658183	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000316144.5:c.289G>A	p.Gly97Arg	p.G97R	ENST00000316144	NM_203347.1	97	Gga/Aga	0	not done		probablydamaging	
LCN15		inserm.fr	GRCh37	9	139658405	139658405	+	synonymous_variant	Silent	SNP	G	T	T			CHC1725T																					ENST00000316144.5:c.153C>A	p.Gly51=	p.G51=	ENST00000316144	NM_203347.1	51	ggC/ggA	0	not done		synonymous	
COL22A1		inserm.fr	GRCh37	8	139697450	139697450	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC898T																					ENST00000303045.6:c.2967+1G>A		p.X989_splice	ENST00000303045	NM_152888.1			0	not done		possiblydamaging	
HBEGF		inserm.fr	GRCh37	5	139725635	139725635	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000230990.6:c.81G>A	p.Glu27=	p.E27=	ENST00000230990	NM_001945.2	27	gaG/gaA	0	not done		synonymous	
PARP12		inserm.fr	GRCh37	7	139756885	139756885	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000263549.3:c.531G>A	p.Lys177=	p.K177=	ENST00000263549	NM_022750.2	177	aaG/aaA	0	not done		synonymous	
RNF182		inserm.fr	GRCh37	6	13977775	13977775	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2112T																					ENST00000488300.1:c.425C>T	p.Pro142Leu	p.P142L	ENST00000488300	NM_152737.3	142	cCg/cTg	0	not done		possiblydamaging	
RNF182		inserm.fr	GRCh37	6	13977779	13977779	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000488300.1:c.429C>T	p.Ser143=	p.S143=	ENST00000488300	NM_152737.3	143	tcC/tcT	0	not done		synonymous	
COL22A1		inserm.fr	GRCh37	8	139790630	139790630	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2098T																					ENST00000303045.6:c.1724G>A	p.Gly575Glu	p.G575E	ENST00000303045	NM_152888.1	575	gGa/gAa	0	not done		probablydamaging	
FBXW5		inserm.fr	GRCh37	9	139836841	139836841	+	synonymous_variant	Silent	SNP	C	T	T			CHC1754T																					ENST00000325285.3:c.753G>A	p.Thr251=	p.T251=	ENST00000325285	NM_018998.3	251	acG/acA	0	not done		synonymous	
C8G		inserm.fr	GRCh37	9	139840403	139840403	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000224181.3:c.298C>T	p.Arg100Cys	p.R100C	ENST00000224181	NM_000606.2	100	Cgc/Tgc	0	validated		probablydamaging	
C8G		inserm.fr	GRCh37	9	139840599	139840599	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM265T									Valid												ENST00000224181.3:c.409G>T	p.Val137Phe	p.V137F	ENST00000224181	NM_000606.2	137	Gtc/Ttc	0	validated		probablydamaging	
ANKHD1		inserm.fr	GRCh37	5	139851905	139851905	+	intron_variant	Intron	SNP	A	T	T			CHC2048T																					ENST00000297183.6:c.1782+7544A>T		*594*	ENST00000297183	NM_020690.5			0	not done		damaging	
NANOS3		inserm.fr	GRCh37	19	13988440	13988440	+	synonymous_variant	Silent	SNP	C	T	T			CHC1744T																					ENST00000339133.5:c.378C>T	p.Arg126=	p.R126=	ENST00000339133		126	cgC/cgT	0	not done		synonymous	
ABCA2		inserm.fr	GRCh37	9	139910045	139910045	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000341511.6:c.3518G>A	p.Arg1173His	p.R1173H	ENST00000341511	NM_212533.2	1173	cGc/cAc	0	not done		probablydamaging	
C9orf139		inserm.fr	GRCh37	9	139929440	139929440	+	synonymous_variant	Silent	SNP	G	T	T			CHC1192T																					ENST00000314330.2:c.507G>T	p.Gly169=	p.G169=	ENST00000314330	NM_207511.1	169	ggG/ggT	0	not done		synonymous	
NPDC1		inserm.fr	GRCh37	9	139935530	139935530	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000371601.4:c.369G>A	p.Gln123=	p.Q123=	ENST00000371601	NM_015392.3	123	caG/caA	0	not done		synonymous	
APBB3		inserm.fr	GRCh37	5	139943457	139943457	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000354402.5:c.93G>A	p.Leu31=	p.L31=	ENST00000354402		31	ctG/ctA	0	not done		synonymous	
CCRN4L		inserm.fr	GRCh37	4	139965845	139965845	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC609T																					ENST00000280614.2:c.513A>T	p.Lys171Asn	p.K171N	ENST00000280614	NM_012118.3	171	aaA/aaT	0	validated		benign	
ELF2		inserm.fr	GRCh37	4	139983205	139983205	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1597T																					ENST00000394235.2:c.584C>A	p.Thr195Lys	p.T195K	ENST00000394235		195	aCa/aAa	0	validated		probablydamaging	
TSR3		inserm.fr	GRCh37	16	1400117	1400117	+	synonymous_variant	Silent	SNP	C	T	T			CHC896T																					ENST00000007390.2:c.645G>A	p.Leu215=	p.L215=	ENST00000007390	NM_001001410.2	215	ctG/ctA	0	not done		synonymous	
TMCO6		inserm.fr	GRCh37	5	140019133	140019133	+	synonymous_variant	Silent	SNP	C	T	T			CHC1603T																					ENST00000394671.3:c.21C>T	p.Gly7=	p.G7=	ENST00000394671	NM_018502.3	7	ggC/ggT	0	not done		synonymous	
SLC37A3		inserm.fr	GRCh37	7	140051928	140051928	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000326232.9:c.637G>A	p.Ala213Thr	p.A213T	ENST00000326232	NM_207113.1	213	Gcg/Acg	0	not done		possiblydamaging	
LRRC26		inserm.fr	GRCh37	9	140064141	140064141	+	synonymous_variant	Silent	SNP	C	T	T			CHC912T																					ENST00000371542.3:c.255G>A	p.Ala85=	p.A85=	ENST00000371542	NM_001013653.2	85	gcG/gcA	0	validated		synonymous	
ANAPC2		inserm.fr	GRCh37	9	140069794	140069794	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000323927.2:c.2151G>A	p.Glu717=	p.E717=	ENST00000323927	NM_013366.3	717	gaG/gaA	0	not done		synonymous	
ANAPC2		inserm.fr	GRCh37	9	140082975	140082975	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000323927.2:c.10G>A	p.Ala4Thr	p.A4T	ENST00000323927	NM_013366.3	4	Gca/Aca	0	not done		benign	
NDOR1		inserm.fr	GRCh37	9	140100755	140100755	+	synonymous_variant	Silent	SNP	C	T	T			CHC1629T																					ENST00000371521.4:c.207C>T	p.Asn69=	p.N69=	ENST00000371521	NM_001144026.1	69	aaC/aaT	0	not done		synonymous	
INPP5K		inserm.fr	GRCh37	17	1401232	1401232	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000421807.2:c.961G>A	p.Glu321Lys	p.E321K	ENST00000421807	NM_016532.3	321	Gag/Aag	0	not done		benign	
RAB19		inserm.fr	GRCh37	7	140125714	140125714	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1531T																					ENST00000537763.1:c.418G>T	p.Val140Phe	p.V140F	ENST00000537763	NM_001008749.2	140	Gtc/Ttc	0	not done		probablydamaging	
SLC34A3		inserm.fr	GRCh37	9	140127823	140127823	+	synonymous_variant	Silent	SNP	G	T	T			CHC429T																					ENST00000538474.1:c.723G>T	p.Val241=	p.V241=	ENST00000538474	NM_001177317.1	241	gtG/gtT	0	validated		synonymous	
SLC34A3		inserm.fr	GRCh37	9	140130780	140130780	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000538474.1:c.1712C>T	p.Pro571Leu	p.P571L	ENST00000538474	NM_001177317.1	571	cCc/cTc	0	not done		benign	
MKRN1		inserm.fr	GRCh37	7	140154895	140154895	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC1152T																					ENST00000255977.2:c.1236G>A	p.Arg412=	p.R412=	ENST00000255977	NM_013446.3	412	cgG/cgA	0	not done		possiblydamaging	
PCDHA1		inserm.fr	GRCh37	5	140166091	140166091	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM567T																					ENST00000504120.2:c.216G>T	p.Arg72Ser	p.R72S	ENST00000504120	NM_018900.2	72	agG/agT	0	validated		benign	
PCDHA1		inserm.fr	GRCh37	5	140166976	140166976	+	synonymous_variant	Silent	SNP	C	T	T			CHC429T																					ENST00000504120.2:c.1101C>T	p.Thr367=	p.T367=	ENST00000504120	NM_018900.2	367	acC/acT	0	validated		synonymous	
PCDHA2		inserm.fr	GRCh37	5	140175914	140175914	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000526136.1:c.1365C>T	p.Phe455=	p.F455=	ENST00000526136	NM_018905.2	455	ttC/ttT	0	validated		synonymous	
PCDHA3		inserm.fr	GRCh37	5	140181676	140181676	+	synonymous_variant	Silent	SNP	C	T	T			BCB109T																					ENST00000522353.2:c.894C>T	p.Val298=	p.V298=	ENST00000522353	NM_018906.2	298	gtC/gtT	0	validated		synonymous	
PCDHA3		inserm.fr	GRCh37	5	140182723	140182723	+	synonymous_variant	Silent	SNP	A	T	T			CHC433T																					ENST00000522353.2:c.1941A>T	p.Leu647=	p.L647=	ENST00000522353	NM_018906.2	647	ctA/ctT	0	validated		synonymous	
PCDHA4		inserm.fr	GRCh37	5	140187039	140187039	+	synonymous_variant	Silent	SNP	G	T	T			CHC301T																					ENST00000530339.1:c.267G>T	p.Arg89=	p.R89=	ENST00000530339	NM_018907.2	89	cgG/cgT	0	validated		synonymous	
PCDHA5		inserm.fr	GRCh37	5	140201486	140201486	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000529859.1:c.126C>T	p.Thr42=	p.T42=	ENST00000529859	NM_018908.2	42	acC/acT	0	not done		synonymous	
PCDHA5		inserm.fr	GRCh37	5	140203423	140203423	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000529859.1:c.2063C>T	p.Pro688Leu	p.P688L	ENST00000529859	NM_018908.2	688	cCc/cTc	0	not done		benign	
PCDHA6		inserm.fr	GRCh37	5	140209817	140209817	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1192T																					ENST00000529310.1:c.2141C>T	p.Thr714Met	p.T714M	ENST00000529310	NM_018909.2	714	aCg/aTg	0	not done		probablydamaging	
EXD3		inserm.fr	GRCh37	9	140218249	140218249	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000340951.4:c.2112G>A	p.Gln704=	p.Q704=	ENST00000340951	NM_017820.3	704	caG/caA	0	not done		synonymous	
PCDHA10		inserm.fr	GRCh37	5	140237806	140237806	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000307360.5:c.2173C>T	p.Pro725Ser	p.P725S	ENST00000307360	NM_018901.2	725	Ccc/Tcc	0	not done		benign	
CC2D1A		inserm.fr	GRCh37	19	14024290	14024290	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000318003.7:c.587C>T	p.Ala196Val	p.A196V	ENST00000318003	NM_017721.4	196	gCc/gTc	0	validated		possiblydamaging	
EXD3		inserm.fr	GRCh37	9	140243726	140243726	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000340951.4:c.1666G>A	p.Ala556Thr	p.A556T	ENST00000340951	NM_017820.3	556	Gcc/Acc	0	not done		probablydamaging	
PCDHA11		inserm.fr	GRCh37	5	140250149	140250149	+	synonymous_variant	Silent	SNP	G	T	T			CHC451T																					ENST00000398640.2:c.1461G>T	p.Ala487=	p.A487=	ENST00000398640	NM_018902.3	487	gcG/gcT	0	not done		synonymous	
PCDHA12		inserm.fr	GRCh37	5	140256337	140256337	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC798T																					ENST00000398631.2:c.1280C>T	p.Ala427Val	p.A427V	ENST00000398631	NM_018903.2	427	gCg/gTg	0	validated		benign	
PCDHA12		inserm.fr	GRCh37	5	140256762	140256762	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000398631.2:c.1705C>T	p.Pro569Ser	p.P569S	ENST00000398631	NM_018903.2	569	Ccg/Tcg	0	not done		benign	
PCDHA13		inserm.fr	GRCh37	5	140263751	140263751	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM275T																					ENST00000289272.2:c.1898C>T	p.Thr633Met	p.T633M	ENST00000289272	NM_018904.2	633	aCg/aTg	0	validated		benign	
NELF		inserm.fr	GRCh37	9	140344406	140344406	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1180T																					ENST00000371475.3:c.1388G>A	p.Cys463Tyr	p.C463Y	ENST00000371475	NM_001130969.1	463	tGc/tAc	0	validated		probablydamaging	
PCDHAC2		inserm.fr	GRCh37	5	140346845	140346845	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB325T									Valid												ENST00000289269.5:c.494C>T	p.Ala165Val	p.A165V	ENST00000289269	NM_018899.5	165	gCg/gTg	0	validated		possiblydamaging	
PNPLA7		inserm.fr	GRCh37	9	140358600	140358600	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000406427.1:c.3204G>A	p.Ser1068=	p.S1068=	ENST00000406427	NM_001098537.1	1068	tcG/tcA	0	not done		synonymous	
PNPLA7		inserm.fr	GRCh37	9	140373526	140373526	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000406427.1:c.2745G>A	p.Arg915=	p.R915=	ENST00000406427	NM_001098537.1	915	agG/agA	0	not done		synonymous	
ERCC4		inserm.fr	GRCh37	16	14041869	14041869	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2112T																					ENST00000311895.7:c.2416C>T	p.Pro806Ser	p.P806S	ENST00000311895	NM_005236.2	806	Cct/Tct	0	not done		probablydamaging	
TRIM42		inserm.fr	GRCh37	3	140419778	140419778	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000286349.3:c.2134C>T	p.Leu712=	p.L712=	ENST00000286349	NM_152616.4	712	Ctg/Ttg	0	not done		synonymous	
PCDHB1		inserm.fr	GRCh37	5	140432759	140432759	+	synonymous_variant	Silent	SNP	C	T	T			CHC1044T																					ENST00000306549.3:c.1704C>T	p.Asn568=	p.N568=	ENST00000306549	NM_013340.2	568	aaC/aaT	0	not done		synonymous	
SETD7		inserm.fr	GRCh37	4	140432873	140432873	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2321T																					ENST00000274031.3:c.1045G>A	p.Ala349Thr	p.A349T	ENST00000274031	NM_030648.2	349	Gcc/Acc	0	validated		probablydamaging	
PNPLA7		inserm.fr	GRCh37	9	140435105	140435105	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM275T									Valid												ENST00000406427.1:c.736G>A	p.Asp246Asn	p.D246N	ENST00000406427	NM_001098537.1	246	Gac/Aac	0	validated		possiblydamaging	
BRAF		inserm.fr	GRCh37	7	140453136	140453136	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM529T									Valid												ENST00000288602.6:c.1799T>A	p.Val600Glu	p.V600E	ENST00000288602	NM_004333.4	600	gTg/gAg	0	validated		probablydamaging	
DPH7		inserm.fr	GRCh37	9	140473177	140473177	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1743T																					ENST00000277540.2:c.53C>A	p.Ser18Ter	p.S18*	ENST00000277540	NM_138778.2	18	tCg/tAg	0	not done		damaging	
PCDHB3		inserm.fr	GRCh37	5	140480872	140480872	+	synonymous_variant	Silent	SNP	C	T	T			BCM337T																					ENST00000231130.2:c.639C>T	p.Thr213=	p.T213=	ENST00000231130	NM_018937.2	213	acC/acT	0	validated		synonymous	
PCDHB3		inserm.fr	GRCh37	5	140481056	140481056	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1597T																					ENST00000231130.2:c.823G>T	p.Gly275Trp	p.G275W	ENST00000231130	NM_018937.2	275	Ggg/Tgg	0	not done		probablydamaging	
BRAF		inserm.fr	GRCh37	7	140508697	140508697	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000288602.6:c.603G>A	p.Gln201=	p.Q201=	ENST00000288602	NM_004333.4	201	caG/caA	0	not done		synonymous	
PCDHB6		inserm.fr	GRCh37	5	140530025	140530025	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC451T																					ENST00000231136.1:c.187G>T	p.Ala63Ser	p.A63S	ENST00000231136	NM_018939.2	63	Gct/Tct	0	validated		benign	
PCDHB7		inserm.fr	GRCh37	5	140552523	140552523	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1205T																					ENST00000231137.3:c.107C>T	p.Ala36Val	p.A36V	ENST00000231137	NM_018940.2	36	gCg/gTg	0	not done		possiblydamaging	
PCDHB7		inserm.fr	GRCh37	5	140552523	140552523	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC205T									Valid												ENST00000231137.3:c.107C>T	p.Ala36Val	p.A36V	ENST00000231137	NM_018940.2	36	gCg/gTg	0	validated		possiblydamaging	
PCDHB7		inserm.fr	GRCh37	5	140553391	140553391	+	synonymous_variant	Silent	SNP	C	T	T			CHC923T																					ENST00000231137.3:c.975C>T	p.Gly325=	p.G325=	ENST00000231137	NM_018940.2	325	ggC/ggT	0	not done		synonymous	
PCDHB8		inserm.fr	GRCh37	5	140559913	140559913	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB151T																					ENST00000239444.2:c.2298G>T	p.Gln766His	p.Q766H	ENST00000239444	NM_019120.3	766	caG/caT	0	validated		benign	
PCDHB16		inserm.fr	GRCh37	5	140562318	140562318	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000361016.2:c.184C>T	p.Arg62Cys	p.R62C	ENST00000361016	NM_020957.1	62	Cgc/Tgc	0	validated		probablydamaging	
PCDHB16		inserm.fr	GRCh37	5	140562453	140562453	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1205T																					ENST00000361016.2:c.319C>T	p.Gln107Ter	p.Q107*	ENST00000361016	NM_020957.1	107	Caa/Taa	0	not done		damaging	
PCDHB9		inserm.fr	GRCh37	5	140567063	140567063	+	non_coding_transcript_exon_variant	RNA	SNP	G	T	T			CHC1704T																					ENST00000316105.4:n.171G>T		*57*	ENST00000316105				0	not done		synonymous	
PCDHB9		inserm.fr	GRCh37	5	140567452	140567452	+	non_coding_transcript_exon_variant	RNA	SNP	A	T	T			CHC1714T																					ENST00000316105.4:n.560A>T		*187*	ENST00000316105				0	not done		probablydamaging	
PCDHB10		inserm.fr	GRCh37	5	140572591	140572591	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1148T																					ENST00000239446.4:c.466A>T	p.Arg156Ter	p.R156*	ENST00000239446	NM_018930.3	156	Aga/Tga	0	not done		damaging	
PCDHB10		inserm.fr	GRCh37	5	140574286	140574286	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000239446.4:c.2161G>T	p.Ala721Ser	p.A721S	ENST00000239446	NM_018930.3	721	Gcg/Tcg	0	validated		possiblydamaging	
PCDHB12		inserm.fr	GRCh37	5	140588559	140588559	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM337T																					ENST00000239450.2:c.80G>T	p.Gly27Val	p.G27V	ENST00000239450	NM_018932.3	27	gGc/gTc	0	validated		benign	
PCDHB12		inserm.fr	GRCh37	5	140588816	140588816	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000239450.2:c.337C>T	p.Pro113Ser	p.P113S	ENST00000239450	NM_018932.3	113	Ccc/Tcc	0	not done		probablydamaging	
PCDHB13		inserm.fr	GRCh37	5	140594857	140594857	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC429T									Valid												ENST00000341948.4:c.1162G>T	p.Glu388Ter	p.E388*	ENST00000341948	NM_018933.2	388	Gag/Tag	0	validated		damaging	
PCDHB13		inserm.fr	GRCh37	5	140595883	140595883	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC155T									Valid												ENST00000341948.4:c.2188G>T	p.Gly730Cys	p.G730C	ENST00000341948	NM_018933.2	730	Ggc/Tgc	0	validated		benign	
PCDHB14		inserm.fr	GRCh37	5	140603146	140603146	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1700T																					ENST00000239449.4:c.69G>T	p.Leu23Phe	p.L23F	ENST00000239449	NM_018934.2	23	ttG/ttT	0	not done		benign	
PCDHB14		inserm.fr	GRCh37	5	140604228	140604228	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2200T																					ENST00000239449.4:c.1151C>T	p.Ser384Phe	p.S384F	ENST00000239449	NM_018934.2	384	tCt/tTt	0	not done		benign	
KCNK9		inserm.fr	GRCh37	8	140630864	140630864	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000520439.1:c.762G>A	p.Glu254=	p.E254=	ENST00000520439	NM_001282534.1	254	gaG/gaA	0	not done		synonymous	
MAML3		inserm.fr	GRCh37	4	140646908	140646908	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1531T																					ENST00000509479.2:c.2413C>A	p.Gln805Lys	p.Q805K	ENST00000509479	NM_018717.4	805	Caa/Aaa	0	not done		probablydamaging	
EHMT1		inserm.fr	GRCh37	9	140672414	140672414	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000460843.1:c.2099G>T	p.Gly700Val	p.G700V	ENST00000460843	NM_024757.4	700	gGa/gTa	0	not done		benign	
SLC25A2		inserm.fr	GRCh37	5	140683384	140683384	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC796T																					ENST00000239451.4:c.49G>A	p.Ala17Thr	p.A17T	ENST00000239451	NM_031947.2	17	Gcc/Acc	0	validated		probablydamaging	
PCDHGA1		inserm.fr	GRCh37	5	140711508	140711508	+	synonymous_variant	Silent	SNP	C	T	T			CHC1624T																					ENST00000517417.1:c.1257C>T	p.Asn419=	p.N419=	ENST00000517417	NM_018912.2	419	aaC/aaT	0	validated		synonymous	
PCDHGA1		inserm.fr	GRCh37	5	140711919	140711919	+	synonymous_variant	Silent	SNP	C	T	T			CHC1137T																					ENST00000517417.1:c.1668C>T	p.Asn556=	p.N556=	ENST00000517417	NM_018912.2	556	aaC/aaT	0	not done		synonymous	
PCDHGA2		inserm.fr	GRCh37	5	140718841	140718841	+	synonymous_variant	Silent	SNP	C	T	T			CHC1747T																					ENST00000394576.2:c.303C>T	p.Pro101=	p.P101=	ENST00000394576	NM_018915.2	101	ccC/ccT	0	not done		synonymous	
PCDHGA2		inserm.fr	GRCh37	5	140720235	140720235	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000394576.2:c.1697C>T	p.Ala566Val	p.A566V	ENST00000394576	NM_018915.2	566	gCc/gTc	0	not done		benign	
PCDHGA3		inserm.fr	GRCh37	5	140723672	140723672	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000253812.6:c.72C>T	p.Cys24=	p.C24=	ENST00000253812	NM_018916.3	24	tgC/tgT	0	not done		synonymous	
PCDHGB1		inserm.fr	GRCh37	5	140731905	140731905	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000523390.1:c.2078C>T	p.Ala693Val	p.A693V	ENST00000523390	NM_018922.2	693	gCc/gTc	0	not done		probablydamaging	
PCDHGA4		inserm.fr	GRCh37	5	140735645	140735645	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC314T																					ENST00000571252.1:c.878A>T	p.Gln293Leu	p.Q293L	ENST00000571252	NM_018917.2	293	cAg/cTg	0	validated		benign	
PCDHGA4		inserm.fr	GRCh37	5	140736484	140736484	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC799T																					ENST00000571252.1:c.1717A>T	p.Thr573Ser	p.T573S	ENST00000571252	NM_018917.2	573	Act/Tct	0	not done		benign	
PCDHGB2		inserm.fr	GRCh37	5	140741199	140741199	+	synonymous_variant	Silent	SNP	G	T	T			CHC1534T																					ENST00000522605.1:c.1497G>T	p.Arg499=	p.R499=	ENST00000522605	NM_018923.2	499	cgG/cgT	0	validated		synonymous	
PCDHGA5		inserm.fr	GRCh37	5	140744289	140744289	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM265T																					ENST00000518069.1:c.392C>T	p.Pro131Leu	p.P131L	ENST00000518069	NM_018918.2	131	cCg/cTg	0	validated		probablydamaging	
PCDHGA5		inserm.fr	GRCh37	5	140744567	140744567	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC218T																					ENST00000518069.1:c.670G>T	p.Gly224Cys	p.G224C	ENST00000518069	NM_018918.2	224	Ggc/Tgc	0	validated		probablydamaging	
PCDHGB3		inserm.fr	GRCh37	5	140751332	140751332	+	synonymous_variant	Silent	SNP	C	T	T			BCM783T																					ENST00000576222.1:c.1371C>T	p.Tyr457=	p.Y457=	ENST00000576222	NM_018924.2	457	taC/taT	0	validated		synonymous	
PCDHGB3		inserm.fr	GRCh37	5	140751588	140751588	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1746T																					ENST00000576222.1:c.1627A>T	p.Ser543Cys	p.S543C	ENST00000576222	NM_018924.2	543	Agc/Tgc	0	not done		benign	
PCDHGB3		inserm.fr	GRCh37	5	140752372	140752372	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1745T																					ENST00000576222.1:c.2411A>T	p.Gln804Leu	p.Q804L	ENST00000576222	NM_018924.2	804	cAa/cTa	0	not done		benign	
PCDHGB3		inserm.fr	GRCh37	5	140752377	140752377	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC1629T																					ENST00000576222.1:c.2415+1G>T		p.X805_splice	ENST00000576222	NM_018924.2			0	not done		possiblydamaging	
PCDHGA7		inserm.fr	GRCh37	5	140763346	140763346	+	synonymous_variant	Silent	SNP	C	T	T			CHC1753T																					ENST00000518325.1:c.880C>T	p.Leu294=	p.L294=	ENST00000518325	NM_018920.2	294	Ctg/Ttg	0	not done		synonymous	
PCDHGB5		inserm.fr	GRCh37	5	140780094	140780094	+	intron_variant	Intron	SNP	G	T	T			CHC1738T																					ENST00000253812.6:c.2424+54070G>T		*808*	ENST00000253812	NM_018916.3			0	not done		synonymous	
SPSB4		inserm.fr	GRCh37	3	140785154	140785154	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM543T																					ENST00000310546.2:c.208G>T	p.Asp70Tyr	p.D70Y	ENST00000310546	NM_080862.1	70	Gac/Tac	0	validated		probablydamaging	
SPSB4		inserm.fr	GRCh37	3	140785168	140785168	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000310546.2:c.222C>T	p.Thr74=	p.T74=	ENST00000310546	NM_080862.1	74	acC/acT	0	not done		synonymous	
PCDHGA10		inserm.fr	GRCh37	5	140792830	140792830	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000398610.2:c.88G>T	p.Ala30Ser	p.A30S	ENST00000398610	NM_018913.2	30	Gct/Tct	0	not done		benign	
PCDHGC3		inserm.fr	GRCh37	5	140855833	140855833	+	synonymous_variant	Silent	SNP	G	T	T			CHC892T																					ENST00000308177.3:c.150G>T	p.Val50=	p.V50=	ENST00000308177	NM_002588.2	50	gtG/gtT	0	not done		synonymous	
PCDHGC4		inserm.fr	GRCh37	5	140865174	140865174	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1085T																					ENST00000306593.1:c.434C>T	p.Ala145Val	p.A145V	ENST00000306593	NM_018928.2	145	gCa/gTa	0	validated		benign	
PCDHGC4		inserm.fr	GRCh37	5	140865231	140865231	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000306593.1:c.491G>T	p.Ser164Ile	p.S164I	ENST00000306593	NM_018928.2	164	aGc/aTc	0	not done		benign	
CACNA1B		inserm.fr	GRCh37	9	140870423	140870423	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000371372.1:c.1608G>T	p.Leu536=	p.L536=	ENST00000371372	NM_001243812.1	536	ctG/ctT	0	validated		synonymous	
CACNA1B		inserm.fr	GRCh37	9	140870443	140870443	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1749T																					ENST00000371372.1:c.1628G>T	p.Arg543Leu	p.R543L	ENST00000371372	NM_001243812.1	543	cGg/cTg	0	not done		possiblydamaging	
PCDHGC5		inserm.fr	GRCh37	5	140870970	140870970	+	synonymous_variant	Silent	SNP	A	T	T			CHC1207T																					ENST00000252087.1:c.2163A>T	p.Ala721=	p.A721=	ENST00000252087	NM_018929.2	721	gcA/gcT	0	not done		synonymous	
CACNA1B		inserm.fr	GRCh37	9	140917739	140917739	+	synonymous_variant	Silent	SNP	G	T	T			CHC320T																					ENST00000371372.1:c.2544G>T	p.Pro848=	p.P848=	ENST00000371372	NM_001243812.1	848	ccG/ccT	0	validated		synonymous	
SGCZ		inserm.fr	GRCh37	8	14095105	14095105	+	synonymous_variant	Silent	SNP	G	T	T			CHC889T																					ENST00000382080.1:c.420C>A	p.Thr140=	p.T140=	ENST00000382080	NM_139167.2	140	acC/acA	0	not done		synonymous	
DIAPH1		inserm.fr	GRCh37	5	140961896	140961896	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000398557.4:c.667G>A	p.Ala223Thr	p.A223T	ENST00000398557	NM_005219.4	223	Gct/Act	0	not done		probablydamaging	
MAGEC3		inserm.fr	GRCh37	X	140969499	140969499	+	synonymous_variant	Silent	SNP	C	T	T			CHC1082T																					ENST00000298296.1:c.826C>T	p.Leu276=	p.L276=	ENST00000298296	NM_138702.1	276	Ctg/Ttg	0	validated		synonymous	
MAGEC3		inserm.fr	GRCh37	X	140985320	140985320	+	intron_variant	Intron	SNP	G	T	T			CHC1061T																					ENST00000298296.1:c.1728+48G>T		*576*	ENST00000298296	NM_138702.1			0	validated		synonymous	
CACNA1B		inserm.fr	GRCh37	9	140991002	140991002	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000371372.1:c.5161C>T	p.Leu1721=	p.L1721=	ENST00000371372	NM_001243812.1	1721	Cta/Tta	0	not done		synonymous	
MAGEC1		inserm.fr	GRCh37	X	140993431	140993431	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1209T																					ENST00000285879.4:c.241C>T	p.Gln81Ter	p.Q81*	ENST00000285879	NM_005462.4	81	Cag/Tag	0	not done		damaging	
MAGEC1		inserm.fr	GRCh37	X	140994515	140994515	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC304T																					ENST00000285879.4:c.1325C>T	p.Pro442Leu	p.P442L	ENST00000285879	NM_005462.4	442	cCt/cTt	0	validated		possiblydamaging	
MAGEC1		inserm.fr	GRCh37	X	140995693	140995693	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM375T																					ENST00000285879.4:c.2503C>T	p.Pro835Ser	p.P835S	ENST00000285879	NM_005462.4	835	Ccc/Tcc	0	validated		benign	
MAGEC1		inserm.fr	GRCh37	X	140996446	140996446	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC898T																					ENST00000285879.4:c.3256G>T	p.Glu1086Ter	p.E1086*	ENST00000285879	NM_005462.4	1086	Gag/Tag	0	not done		damaging	
MAGEC1		inserm.fr	GRCh37	X	140996456	140996456	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC912T									Valid												ENST00000285879.4:c.3266C>T	p.Ala1089Val	p.A1089V	ENST00000285879	NM_005462.4	1089	gCc/gTc	0	validated		probablydamaging	
CACNA1B		inserm.fr	GRCh37	9	141000256	141000256	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371372.1:c.5425C>T	p.Pro1809Ser	p.P1809S	ENST00000371372	NM_001243812.1	1809	Cca/Tca	0	not done		benign	
HDAC3		inserm.fr	GRCh37	5	141008861	141008861	+	synonymous_variant	Silent	SNP	C	T	T			CHC1055T																					ENST00000305264.3:c.489G>A	p.Arg163=	p.R163=	ENST00000305264	NM_003883.3	163	cgG/cgA	0	validated		synonymous	
CACNA1B		inserm.fr	GRCh37	9	141008903	141008903	+	synonymous_variant	Silent	SNP	C	T	T			BCM703T																					ENST00000371372.1:c.5610C>T	p.Thr1870=	p.T1870=	ENST00000371372	NM_001243812.1	1870	acC/acT	0	validated		synonymous	
CACNA1B		inserm.fr	GRCh37	9	141010026	141010026	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2034T																					ENST00000371372.1:c.5672A>T	p.His1891Leu	p.H1891L	ENST00000371372	NM_001243812.1	1891	cAc/cTc	0	not done		probablydamaging	
CACNA1B		inserm.fr	GRCh37	9	141013180	141013180	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB307T																					ENST00000371372.1:c.5990G>T	p.Gly1997Val	p.G1997V	ENST00000371372	NM_001243812.1	1997	gGt/gTt	0	validated		probablydamaging	
RELL2		inserm.fr	GRCh37	5	141019058	141019058	+	synonymous_variant	Silent	SNP	C	T	T			CHC902T																					ENST00000297164.3:c.345C>T	p.Asp115=	p.D115=	ENST00000297164	NM_173828.4	115	gaC/gaT	0	not done		synonymous	
LRP1B		inserm.fr	GRCh37	2	141031996	141031996	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC469T									Valid												ENST00000389484.3:c.13139G>A	p.Cys4380Tyr	p.C4380Y	ENST00000389484	NM_018557.2	4380	tGc/tAc	0	validated		probablydamaging	
LRP1B		inserm.fr	GRCh37	2	141055531	141055531	+	synonymous_variant	Silent	SNP	G	T	T			CHC1052T																					ENST00000389484.3:c.12813C>A	p.Pro4271=	p.P4271=	ENST00000389484	NM_018557.2	4271	ccC/ccA	0	validated		synonymous	
LRP1B		inserm.fr	GRCh37	2	141055532	141055532	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1052T									Valid												ENST00000389484.3:c.12812N>A	p.Pro4271His	p.P4271H	ENST00000389484	NM_018557.2	4271	cCc/cAc	0	validated		probablydamaging	
ZNF519		inserm.fr	GRCh37	18	14106371	14106371	+	synonymous_variant	Silent	SNP	C	T	T			CHC155T																					ENST00000590202.1:c.168G>A	p.Glu56=	p.E56=	ENST00000590202	NM_145287.3	56	gaG/gaA	0	validated		synonymous	
TPRXL		inserm.fr	GRCh37	3	14106431	14106431	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1207T																					ENST00000424053.1:c.755C>T	p.Pro252Leu	p.P252L	ENST00000424053		252	cCc/cTc	0	not done			
BRSK2		inserm.fr	GRCh37	11	1411537	1411537	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1734T																					ENST00000308219.9:c.23G>T	p.Gly8Val	p.G8V	ENST00000308219	NM_003957.3	8	gGc/gTc	0	validated		benign	
ZBTB38		inserm.fr	GRCh37	3	141162568	141162568	+	synonymous_variant	Silent	SNP	C	T	T			CHC121T																					ENST00000514251.1:c.1338C>T	p.Asp446=	p.D446=	ENST00000514251		446	gaC/gaT	0	validated		synonymous	
ZBTB38		inserm.fr	GRCh37	3	141163143	141163143	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1738T																					ENST00000514251.1:c.1913G>T	p.Cys638Phe	p.C638F	ENST00000514251		638	tGt/tTt	0	not done		benign	
ZBTB38		inserm.fr	GRCh37	3	141164014	141164014	+	synonymous_variant	Silent	SNP	C	T	T			BCB151T																					ENST00000514251.1:c.2784C>T	p.Ser928=	p.S928=	ENST00000514251		928	tcC/tcT	0	validated		synonymous	
LRP1B		inserm.fr	GRCh37	2	141201898	141201898	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC1725T																					ENST00000389484.3:c.10294+1G>A		p.X3432_splice	ENST00000389484	NM_018557.2			0	not done		possiblydamaging	
LRP1B		inserm.fr	GRCh37	2	141202198	141202198	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2043T																					ENST00000389484.3:c.10108G>A	p.Ala3370Thr	p.A3370T	ENST00000389484	NM_018557.2	3370	Gct/Act	0	not done		probablydamaging	
PCDH1		inserm.fr	GRCh37	5	141244133	141244133	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000287008.3:c.1763G>A	p.Gly588Asp	p.G588D	ENST00000287008	NM_032420.3	588	gGc/gAc	0	not done		probablydamaging	
TRAPPC9		inserm.fr	GRCh37	8	141262889	141262889	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000389328.4:c.2712G>A	p.Gln904=	p.Q904=	ENST00000389328	NM_031466.5	904	caG/caA	0	not done		synonymous	
MAGEC2		inserm.fr	GRCh37	X	141291408	141291408	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000247452.3:c.366G>A	p.Glu122=	p.E122=	ENST00000247452	NM_016249.3	122	gaG/gaA	0	not done		synonymous	
TRAPPC9		inserm.fr	GRCh37	8	141293995	141293995	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC703T																					ENST00000389328.4:c.2401C>A	p.Leu801Met	p.L801M	ENST00000389328	NM_031466.5	801	Ctg/Atg	0	validated		probablydamaging	
TRAPPC9		inserm.fr	GRCh37	8	141294025	141294025	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000389328.4:c.2371G>A	p.Ala791Thr	p.A791T	ENST00000389328	NM_031466.5	791	Gcg/Acg	0	not done		probablydamaging	
CLGN		inserm.fr	GRCh37	4	141313765	141313765	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM695T									Valid												ENST00000325617.5:c.1466C>A	p.Ser489Ter	p.S489*	ENST00000325617	NM_004362.2	489	tCa/tAa	0	validated		damaging	
CLGN		inserm.fr	GRCh37	4	141317095	141317095	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000325617.5:c.1027G>A	p.Ala343Thr	p.A343T	ENST00000325617	NM_004362.2	343	Gca/Aca	0	validated		probablydamaging	
CNTN6		inserm.fr	GRCh37	3	1414636	1414636	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC2141T																					ENST00000446702.2:c.1783A>T	p.Arg595Ter	p.R595*	ENST00000446702		595	Aga/Tga	0	not done		damaging	
NDFIP1		inserm.fr	GRCh37	5	141488602	141488602	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1715T																					ENST00000253814.4:c.63G>T	p.Gln21His	p.Q21H	ENST00000253814	NM_030571.3	21	caG/caT	0	not done		possiblydamaging	
TBC1D9		inserm.fr	GRCh37	4	141543589	141543589	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000442267.2:c.3561G>A	p.Thr1187=	p.T1187=	ENST00000442267	NM_015130.2	1187	acG/acA	0	not done		synonymous	
EIF2C2		inserm.fr	GRCh37	8	141572724	141572724	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000220592.5:c.346G>A	p.Glu116Lys	p.E116K	ENST00000220592	NM_012154.3	116	Gag/Aag	0	not done		benign	
TBC1D9		inserm.fr	GRCh37	4	141583058	141583058	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000442267.2:c.1792G>A	p.Gly598Arg	p.G598R	ENST00000442267	NM_015130.2	598	Ggg/Agg	0	not done		probablydamaging	
LRP1B		inserm.fr	GRCh37	2	141597589	141597589	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2362T																					ENST00000389484.3:c.5180T>A	p.Ile1727Asn	p.I1727N	ENST00000389484	NM_018557.2	1727	aTt/aAt	0	validated		probablydamaging	
OR9A4		inserm.fr	GRCh37	7	141619031	141619031	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1731T																					ENST00000548136.1:c.356C>T	p.Ala119Val	p.A119V	ENST00000548136	NM_001001656.1	119	gCt/gTt	0	not done		probablydamaging	
MGAM		inserm.fr	GRCh37	7	141734490	141734490	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB109T																					ENST00000549489.2:c.1808C>T	p.Pro603Leu	p.P603L	ENST00000549489	NM_004668.2	603	cCt/cTt	0	validated		probablydamaging	
PTK2		inserm.fr	GRCh37	8	141762397	141762397	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2216T																					ENST00000340930.3:c.1351G>A	p.Val451Ile	p.V451I	ENST00000340930	NM_001199649.1	451	Gtt/Att	0	not done		probablydamaging	
MGAM		inserm.fr	GRCh37	7	141795408	141795408	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC465T									Valid												ENST00000549489.2:c.4814C>T	p.Ser1605Phe	p.S1605F	ENST00000549489	NM_004668.2	1605	tCc/tTc	0	validated		probablydamaging	
MGAM		inserm.fr	GRCh37	7	141795437	141795437	+	synonymous_variant	Silent	SNP	C	T	T			BCM683T																					ENST00000549489.2:c.4843C>T	p.Leu1615=	p.L1615=	ENST00000549489	NM_004668.2	1615	Ctg/Ttg	0	validated		synonymous	
SGCZ		inserm.fr	GRCh37	8	14181611	14181611	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000382080.1:c.336+1G>A		p.X112_splice	ENST00000382080	NM_139167.2			0	not done		damaging	
PRSS58		inserm.fr	GRCh37	7	141952376	141952376	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000552471.1:c.492G>A	p.Gln164=	p.Q164=	ENST00000552471		164	caG/caA	0	not done		synonymous	
XPC		inserm.fr	GRCh37	3	14197932	14197932	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1205T																					ENST00000285021.7:c.1936C>A	p.Leu646Met	p.L646M	ENST00000285021	NM_004628.4	646	Ctg/Atg	0	not done		probablydamaging	
XPC		inserm.fr	GRCh37	3	14197933	14197933	+	synonymous_variant	Silent	SNP	A	T	T			CHC1205T																					ENST00000285021.7:c.1935T>A	p.Pro645=	p.P645=	ENST00000285021	NM_004628.4	645	ccT/ccA	0	not done		synonymous	
XRN1		inserm.fr	GRCh37	3	142144380	142144380	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000264951.4:c.407G>A	p.Gly136Glu	p.G136E	ENST00000264951	NM_019001.3	136	gGa/gAa	0	not done		probablydamaging	
DENND3		inserm.fr	GRCh37	8	142161721	142161721	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000262585.2:c.619C>T	p.Leu207=	p.L207=	ENST00000262585	NM_014957.2	207	Ctg/Ttg	0	not done		synonymous	
PLS1		inserm.fr	GRCh37	3	142430801	142430801	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1763T																					ENST00000337777.3:c.1842G>T	p.Met614Ile	p.M614I	ENST00000337777	NM_002670.2	614	atG/atT	0	not done		probablydamaging	
PTP4A3		inserm.fr	GRCh37	8	142437061	142437061	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2098T																					ENST00000521578.1:c.221C>T	p.Ala74Val	p.A74V	ENST00000521578	NM_032611.2	74	gCg/gTg	0	not done		probablydamaging	
MROH5		inserm.fr	GRCh37	8	142445263	142445263	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC892T																					ENST00000606664.1:n.619C>T		*207*	ENST00000606664				0	not done		synonymous	
MROH5		inserm.fr	GRCh37	8	142458026	142458026	+	downstream_gene_variant	3'Flank	SNP	C	T	T			CHC892T																								ENST00000458800				0	not done		benign	
AC138647.1		inserm.fr	GRCh37	8	142528346	142528346	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1754T																					ENST00000427937.1:c.98C>T	p.Pro33Leu	p.P33L	ENST00000427937		33	cCg/cTg	0	not done			
AC138647.1		inserm.fr	GRCh37	8	142528393	142528393	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1207T																					ENST00000427937.1:c.145G>T	p.Gly49Cys	p.G49C	ENST00000427937		49	Ggc/Tgc	0	not done			
AC138647.1		inserm.fr	GRCh37	8	142528393	142528393	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1745T																					ENST00000427937.1:c.145G>T	p.Gly49Cys	p.G49C	ENST00000427937		49	Ggc/Tgc	0	not done			
AC138647.1		inserm.fr	GRCh37	8	142528413	142528413	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000427937.1:c.165C>T	p.Arg55=	p.R55=	ENST00000427937		55	cgC/cgT	0	not done		synonymous	
SPANXN3		inserm.fr	GRCh37	X	142596818	142596818	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000370503.2:c.252G>A	p.Glu84=	p.E84=	ENST00000370503	NM_001009609.2	84	gaG/gaA	0	not done		synonymous	
TRPV5		inserm.fr	GRCh37	7	142605714	142605714	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC736T																					ENST00000265310.1:c.2156G>A	p.Ser719Asn	p.S719N	ENST00000265310	NM_019841.4	719	aGt/aAt	0	validated		benign	
LPHN1		inserm.fr	GRCh37	19	14262003	14262003	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000340736.6:c.4107C>A	p.Gly1369=	p.G1369=	ENST00000340736	NM_001008701.2	1369	ggC/ggA	0	not done		synonymous	
KEL		inserm.fr	GRCh37	7	142649596	142649596	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000355265.2:c.1203G>A	p.Met401Ile	p.M401I	ENST00000355265	NM_000420.2	401	atG/atA	0	not done		benign	
LPHN1		inserm.fr	GRCh37	19	14266925	14266925	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC429T									Valid												ENST00000340736.6:c.3137T>A	p.Ile1046Asn	p.I1046N	ENST00000340736	NM_001008701.2	1046	aTt/aAt	0	validated		probablydamaging	
PAQR9		inserm.fr	GRCh37	3	142681916	142681916	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCB157T																					ENST00000340634.3:c.263G>A	p.Trp88Ter	p.W88*	ENST00000340634	NM_198504.2	88	tGg/tAg	0	validated		damaging	
SLITRK4		inserm.fr	GRCh37	X	142718383	142718383	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2128T																					ENST00000381779.4:c.542C>A	p.Thr181Asn	p.T181N	ENST00000381779	NM_001184750.1	181	aCc/aAc	0	not done		probablydamaging	
OR6V1		inserm.fr	GRCh37	7	142749987	142749987	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000418316.1:c.550C>T	p.Gln184Ter	p.Q184*	ENST00000418316	NM_001001667.1	184	Cag/Tag	0	not done		damaging	
NR3C1		inserm.fr	GRCh37	5	142779577	142779577	+	synonymous_variant	Silent	SNP	C	T	T			CHC805T																					ENST00000231509.3:c.828G>A	p.Val276=	p.V276=	ENST00000231509		276	gtG/gtA	0	not done		synonymous	
PIP		inserm.fr	GRCh37	7	142836687	142836687	+	synonymous_variant	Silent	SNP	C	T	T			CHC1915T																					ENST00000291009.3:c.393C>T	p.Pro131=	p.P131=	ENST00000291009	NM_002652.2	131	ccC/ccT	0	validated		synonymous	
CHST2		inserm.fr	GRCh37	3	142839871	142839871	+	synonymous_variant	Silent	SNP	C	T	T			CHC1725T																					ENST00000309575.3:c.213C>T	p.Leu71=	p.L71=	ENST00000309575	NM_004267.4	71	ctC/ctT	0	not done		synonymous	
UBE2NL		inserm.fr	GRCh37	X	142967296	142967296	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000370494.1:c.94G>T	p.Ala32Ser	p.A32S	ENST00000370494	NM_001012989.1	32	Gcc/Tcc	0	not done		benign	
CLCN1		inserm.fr	GRCh37	7	143021586	143021586	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC451T																					ENST00000343257.2:c.853+1G>T		p.X285_splice	ENST00000343257	NM_000083.2			0	validated		possiblydamaging	
DAZAP1		inserm.fr	GRCh37	19	1430343	1430343	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2141T																					ENST00000233078.4:c.853G>T	p.Gly285Cys	p.G285C	ENST00000233078	NM_018959.2	285	Ggt/Tgt	0	validated		possiblydamaging	
FLRT3		inserm.fr	GRCh37	20	14306569	14306569	+	synonymous_variant	Silent	SNP	A	T	T			CHC1061T																					ENST00000378053.3:c.1584T>A	p.Pro528=	p.P528=	ENST00000378053	NM_013281.3	528	ccT/ccA	0	validated		synonymous	
HIVEP2		inserm.fr	GRCh37	6	143074636	143074636	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000367603.2:c.6949G>A	p.Ala2317Thr	p.A2317T	ENST00000367603	NM_006734.3	2317	Gca/Aca	0	validated		benign	
HIVEP2		inserm.fr	GRCh37	6	143074890	143074890	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000367603.2:c.6695G>A	p.Gly2232Asp	p.G2232D	ENST00000367603	NM_006734.3	2232	gGt/gAt	0	not done		probablydamaging	
HIVEP2		inserm.fr	GRCh37	6	143092787	143092787	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000367603.2:c.3089G>A	p.Cys1030Tyr	p.C1030Y	ENST00000367603	NM_006734.3	1030	tGc/tAc	0	not done		probablydamaging	
HIVEP2		inserm.fr	GRCh37	6	143095581	143095581	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1191T																					ENST00000367603.2:c.295T>A	p.Ser99Thr	p.S99T	ENST00000367603	NM_006734.3	99	Tct/Act	0	not done		benign	
TAS2R60		inserm.fr	GRCh37	7	143140796	143140796	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000332690.1:c.251C>T	p.Pro84Leu	p.P84L	ENST00000332690	NM_177437.1	84	cCg/cTg	0	validated		benign	
RRAS2		inserm.fr	GRCh37	11	14317321	14317321	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000256196.4:c.189G>A	p.Arg63=	p.R63=	ENST00000256196		63	cgG/cgA	0	not done		synonymous	
INPP4B		inserm.fr	GRCh37	4	143181676	143181676	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM375T									Valid												ENST00000262992.4:c.657C>A	p.Ser219Arg	p.S219R	ENST00000262992	NM_001101669.1	219	agC/agA	0	validated		possiblydamaging	
NSFL1C		inserm.fr	GRCh37	20	1433757	1433757	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000476071.1:c.572G>A	p.Ser191Asn	p.S191N	ENST00000476071	NM_001206736.1	191	aGt/aAt	0	not done		benign	
AIG1		inserm.fr	GRCh37	6	143382152	143382152	+	synonymous_variant	Silent	SNP	C	T	T			CHC2115T																					ENST00000357847.4:c.90C>T	p.Pro30=	p.P30=	ENST00000357847	NM_016108.2	30	ccC/ccT	0	validated		synonymous	
YIPF5		inserm.fr	GRCh37	5	143545066	143545066	+	synonymous_variant	Silent	SNP	C	T	T			CHC1751T																					ENST00000274496.5:c.213G>A	p.Gln71=	p.Q71=	ENST00000274496	NM_030799.8	71	caG/caA	0	not done		synonymous	
BAI1		inserm.fr	GRCh37	8	143546230	143546230	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000517894.1:c.671C>T	p.Ala224Val	p.A224V	ENST00000517894		224	gCc/gTc	0	not done		benign	
BAI1		inserm.fr	GRCh37	8	143558811	143558811	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1211T																					ENST00000517894.1:c.1288C>T	p.Arg430Trp	p.R430W	ENST00000517894		430	Cgg/Tgg	0	not done		probablydamaging	
BAI1		inserm.fr	GRCh37	8	143563042	143563042	+	synonymous_variant	Silent	SNP	G	T	T			CHC1035T																					ENST00000517894.1:c.2100G>T	p.Ala700=	p.A700=	ENST00000517894		700	gcG/gcT	0	validated		synonymous	
BAI1		inserm.fr	GRCh37	8	143602277	143602277	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000517894.1:c.3015C>T	p.Thr1005=	p.T1005=	ENST00000517894		1005	acC/acT	0	not done		synonymous	
BAI1		inserm.fr	GRCh37	8	143623882	143623882	+	synonymous_variant	Silent	SNP	G	T	T			CHC1210T																					ENST00000517894.1:c.4287G>T	p.Pro1429=	p.P1429=	ENST00000517894		1429	ccG/ccT	0	validated		synonymous	
ARC		inserm.fr	GRCh37	8	143694678	143694678	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1044T																					ENST00000356613.2:c.955G>A	p.Glu319Lys	p.E319K	ENST00000356613	NM_015193.4	319	Gag/Aag	0	not done		probablydamaging	
ARC		inserm.fr	GRCh37	8	143694842	143694842	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1569T																					ENST00000356613.2:c.791G>A	p.Trp264Ter	p.W264*	ENST00000356613	NM_015193.4	264	tGg/tAg	0	not done		damaging	
ARC		inserm.fr	GRCh37	8	143695457	143695457	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC736T																					ENST00000356613.2:c.176G>A	p.Arg59His	p.R59H	ENST00000356613	NM_015193.4	59	cGc/cAc	0	validated		possiblydamaging	
OR2A5		inserm.fr	GRCh37	7	143748148	143748148	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000408906.2:c.654C>T	p.Tyr218=	p.Y218=	ENST00000408906	NM_012365.1	218	taC/taT	0	not done		synonymous	
OR2A2		inserm.fr	GRCh37	7	143807471	143807471	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCM439T																					ENST00000408979.2:c.796C>T	p.Arg266Ter	p.R266*	ENST00000408979	NM_001005480.2	266	Cga/Tga	0	validated		damaging	
OR2A14		inserm.fr	GRCh37	7	143826646	143826646	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000408899.2:c.441C>T	p.Ser147=	p.S147=	ENST00000408899	NM_001001659.1	147	tcC/tcT	0	not done		synonymous	
LYPD2		inserm.fr	GRCh37	8	143832526	143832526	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC736T																					ENST00000359228.3:c.121G>A	p.Ala41Thr	p.A41T	ENST00000359228	NM_205545.1	41	Gcc/Acc	0	validated		benign	
LY6D		inserm.fr	GRCh37	8	143867028	143867028	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000301263.4:c.128G>A	p.Arg43His	p.R43H	ENST00000301263	NM_003695.2	43	cGc/cAc	0	not done		benign	
ARHGAP15		inserm.fr	GRCh37	2	143913066	143913066	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1055T									Valid												ENST00000295095.6:c.7A>T	p.Lys3Ter	p.K3*	ENST00000295095	NM_018460.3	3	Aaa/Taa	0	validated		damaging	
CYP11B1		inserm.fr	GRCh37	8	143961053	143961053	+	synonymous_variant	Silent	SNP	C	T	T			CHC1747T																					ENST00000292427.4:c.177G>A	p.Gln59=	p.Q59=	ENST00000292427	NM_000497.3	59	caG/caA	0	not done		synonymous	
CYP11B2		inserm.fr	GRCh37	8	143993986	143993986	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2216T																					ENST00000323110.2:c.1358G>A	p.Arg453Gln	p.R453Q	ENST00000323110	NM_000498.3	453	cGg/cAg	0	not done		probablydamaging	
CYP11B2		inserm.fr	GRCh37	8	143996590	143996590	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC703T																					ENST00000323110.2:c.467G>A	p.Arg156Lys	p.R156K	ENST00000323110	NM_000498.3	156	aGg/aAg	0	validated		benign	
CYP11B2		inserm.fr	GRCh37	8	143998554	143998554	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T																					ENST00000323110.2:c.316C>A	p.Leu106Met	p.L106M	ENST00000323110	NM_000498.3	106	Ctg/Atg	0	validated		benign	
TPO		inserm.fr	GRCh37	2	1440130	1440130	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1035T									Valid												ENST00000345913.4:c.456G>T	p.Arg152Ser	p.R152S	ENST00000345913	NM_000547.5	152	agG/agT	0	validated		probablydamaging	
ARHGEF5		inserm.fr	GRCh37	7	144062639	144062639	+	synonymous_variant	Silent	SNP	C	T	T			CHC205T																					ENST00000056217.5:c.2877C>T	p.His959=	p.H959=	ENST00000056217	NM_005435.3	959	caC/caT	0	validated		synonymous	
NOBOX		inserm.fr	GRCh37	7	144094509	144094509	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM695T																					ENST00000467773.1:c.1900C>A	p.Pro634Thr	p.P634T	ENST00000467773	NM_001080413.3	634	Ccc/Acc	0	validated			
NOBOX		inserm.fr	GRCh37	7	144098195	144098195	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000467773.1:c.788G>A	p.Gly263Glu	p.G263E	ENST00000467773	NM_001080413.3	263	gGg/gAg	0	not done		benign	
NOBOX		inserm.fr	GRCh37	7	144098598	144098598	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000467773.1:c.385G>A	p.Glu129Lys	p.E129K	ENST00000467773	NM_001080413.3	129	Gag/Aag	0	not done		benign	
SGCZ		inserm.fr	GRCh37	8	14412357	14412357	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000382080.1:c.118G>A	p.Gly40Arg	p.G40R	ENST00000382080	NM_139167.2	40	Gga/Aga	0	not done		probablydamaging	
GPIHBP1		inserm.fr	GRCh37	8	144296909	144296909	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC326T																					ENST00000330824.2:c.203G>T	p.Cys68Phe	p.C68F	ENST00000330824	NM_178172.3	68	tGc/tTc	0	validated		probablydamaging	
ZFP41		inserm.fr	GRCh37	8	144332389	144332389	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1085T																					ENST00000330701.4:c.376C>T	p.His126Tyr	p.H126Y	ENST00000330701	NM_173832.4	126	Cac/Tac	0	validated		benign	
RHPN1		inserm.fr	GRCh37	8	144464116	144464116	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1591T																					ENST00000289013.6:c.1775C>T	p.Pro592Leu	p.P592L	ENST00000289013	NM_052924.2	592	cCc/cTc	0	not done		possiblydamaging	
SMARCA5		inserm.fr	GRCh37	4	144467115	144467115	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC097T																					ENST00000283131.3:c.2435C>T	p.Ala812Val	p.A812V	ENST00000283131	NM_003601.3	812	gCa/gTa	0	not done		benign	
STX11		inserm.fr	GRCh37	6	144508055	144508055	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000367568.4:c.291C>T	p.Gly97=	p.G97=	ENST00000367568	NM_003764.3	97	ggC/ggT	0	not done		synonymous	
ZC3H3		inserm.fr	GRCh37	8	144523246	144523246	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000262577.5:c.2352G>A	p.Arg784=	p.R784=	ENST00000262577	NM_015117.2	784	agG/agA	0	not done		synonymous	
FREM3		inserm.fr	GRCh37	4	144618263	144618263	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM275T																					ENST00000329798.5:c.3566C>A	p.Thr1189Asn	p.T1189N	ENST00000329798	NM_001168235.1	1189	aCc/aAc	0	validated			
GSDMD		inserm.fr	GRCh37	8	144644404	144644404	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM711T																					ENST00000526406.1:c.1022C>T	p.Pro341Leu	p.P341L	ENST00000526406	NM_001166237.1	341	cCg/cTg	0	validated		probablydamaging	
ZNF623		inserm.fr	GRCh37	8	144733533	144733533	+	synonymous_variant	Silent	SNP	C	T	T			CHC218T																					ENST00000501748.2:c.1491C>T	p.Asn497=	p.N497=	ENST00000501748	NM_014789.3	497	aaC/aaT	0	not done		synonymous	
COPB1		inserm.fr	GRCh37	11	14479423	14479423	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1629T																					ENST00000249923.3:c.2809G>A	p.Ala937Thr	p.A937T	ENST00000249923	NM_016451.4	937	Gcc/Acc	0	not done		probablydamaging	
FAM83H		inserm.fr	GRCh37	8	144810436	144810436	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000388913.3:c.1195G>A	p.Ala399Thr	p.A399T	ENST00000388913	NM_198488.3	399	Gcg/Acg	0	not done		benign	
UTRN		inserm.fr	GRCh37	6	144837485	144837485	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM339T																					ENST00000367545.3:c.5365G>T	p.Val1789Leu	p.V1789L	ENST00000367545	NM_007124.2	1789	Gtg/Ttg	0	validated		benign	
SLC6A6		inserm.fr	GRCh37	3	14485302	14485302	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1602T																					ENST00000454876.2:c.160G>T	p.Val54Leu	p.V54L	ENST00000454876	NM_001134367.2	54	Gtg/Ttg	0	not done		probablydamaging	
SCRIB		inserm.fr	GRCh37	8	144887333	144887333	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000356994.2:c.2619C>A	p.Gly873=	p.G873=	ENST00000356994	NM_182706.4	873	ggC/ggA	0	validated		synonymous	
COPB1		inserm.fr	GRCh37	11	14490226	14490226	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000249923.3:c.2145+1G>A		p.X715_splice	ENST00000249923	NM_016451.4			0	not done		damaging	
PDE4DIP		inserm.fr	GRCh37	1	144915592	144915592	+	synonymous_variant	Silent	SNP	C	T	T			BCM483T																					ENST00000369356.4:c.1833G>A	p.Glu611=	p.E611=	ENST00000369356	NM_014644.5	611	gaG/gaA	0	validated		synonymous	
EPPK1		inserm.fr	GRCh37	8	144943293	144943293	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000525985.1:c.4129G>A	p.Ala1377Thr	p.A1377T	ENST00000525985	NM_031308.2	1377	Gcg/Acg	0	not done		benign	
UNKL		inserm.fr	GRCh37	16	1449436	1449436	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000389221.4:c.673G>A	p.Ala225Thr	p.A225T	ENST00000389221	NM_001193388.3	225	Gcg/Acg	0	not done		probablydamaging	
EPPK1		inserm.fr	GRCh37	8	144944875	144944875	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000525985.1:c.2547G>A	p.Gln849=	p.Q849=	ENST00000525985	NM_031308.2	849	caG/caA	0	not done		synonymous	
EPPK1		inserm.fr	GRCh37	8	144946291	144946291	+	synonymous_variant	Silent	SNP	A	T	T			CHC1061T																					ENST00000525985.1:c.1131T>A	p.Leu377=	p.L377=	ENST00000525985	NM_031308.2	377	ctT/ctA	0	validated		synonymous	
TRIO		inserm.fr	GRCh37	5	14497089	14497089	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM375T									Valid												ENST00000344204.4:c.7982A>T	p.Lys2661Met	p.K2661M	ENST00000344204	NM_007118.2	2661	aAg/aTg	0	validated		probablydamaging	
PLEC		inserm.fr	GRCh37	8	144991047	144991047	+	synonymous_variant	Silent	SNP	C	T	T			CHC1704T																					ENST00000322810.4:c.13353G>A	p.Ala4451=	p.A4451=	ENST00000322810	NM_201380.2	4451	gcG/gcA	0	not done		synonymous	
PLEC		inserm.fr	GRCh37	8	145001473	145001473	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM567T																					ENST00000322810.4:c.4198G>A	p.Glu1400Lys	p.E1400K	ENST00000322810	NM_201380.2	1400	Gag/Aag	0	validated		possiblydamaging	
PLEC		inserm.fr	GRCh37	8	145003844	145003844	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1592T																					ENST00000322810.4:c.3304T>A	p.Tyr1102Asn	p.Y1102N	ENST00000322810	NM_201380.2	1102	Tac/Aac	0	not done		probablydamaging	
PLEC		inserm.fr	GRCh37	8	145004649	145004649	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2113T																					ENST00000322810.4:c.2771G>A	p.Arg924Gln	p.R924Q	ENST00000322810	NM_201380.2	924	cGg/cAg	0	not done		probablydamaging	
SPATC1		inserm.fr	GRCh37	8	145094919	145094919	+	synonymous_variant	Silent	SNP	C	T	T			CHC799T																					ENST00000377470.3:c.321C>T	p.Ser107=	p.S107=	ENST00000377470	NM_198572.2	107	agC/agT	0	not done		synonymous	
OPLAH		inserm.fr	GRCh37	8	145107691	145107691	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000426825.1:c.3131G>A	p.Gly1044Asp	p.G1044D	ENST00000426825	NM_017570.3	1044	gGc/gAc	0	not done		possiblydamaging	
OPLAH		inserm.fr	GRCh37	8	145111537	145111537	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000426825.1:c.1828G>A	p.Ala610Thr	p.A610T	ENST00000426825	NM_017570.3	610	Gca/Aca	0	not done		benign	
OPLAH		inserm.fr	GRCh37	8	145114576	145114576	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2141T																					ENST00000426825.1:c.289G>A	p.Ala97Thr	p.A97T	ENST00000426825	NM_017570.3	97	Gcg/Acg	0	not done		probablydamaging	
UTRN		inserm.fr	GRCh37	6	145115125	145115125	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	T	T			BCM617T									Valid												ENST00000367545.3:c.9076C>T	p.Gln3026Ter	p.Q3026*	ENST00000367545	NM_007124.2	3026	Cag/Tag	0	validated		damaging	
COPB1		inserm.fr	GRCh37	11	14515208	14515208	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000249923.3:c.471G>A	p.Leu157=	p.L157=	ENST00000249923	NM_016451.4	157	ttG/ttA	0	not done		synonymous	
MROH1		inserm.fr	GRCh37	8	145245838	145245838	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			BCM337T																					ENST00000528919.1:c.714G>T	p.Lys238Asn	p.K238N	ENST00000528919	NM_032450.2	238	aaG/aaT	0	validated		probablydamaging	
MROH1		inserm.fr	GRCh37	8	145254067	145254067	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC609T									Valid												ENST00000528919.1:c.991A>T	p.Asn331Tyr	p.N331Y	ENST00000528919	NM_032450.2	331	Aac/Tac	0	validated		probablydamaging	
NBPF10		inserm.fr	GRCh37	1	145304581	145304581	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC121T																					ENST00000342960.5:c.1514A>T	p.Asp505Val	p.D505V	ENST00000342960	NM_001039703.5	505	gAc/gTc	0	validated		probablydamaging	
GRIP2		inserm.fr	GRCh37	3	14535236	14535236	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			BCM723T																					ENST00000273083.3:n.3134G>A		*1045*	ENST00000273083				0	validated			
BOP1		inserm.fr	GRCh37	8	145512908	145512908	+	synonymous_variant	Silent	SNP	C	T	T			CHC429T																					ENST00000307404.5:c.177G>A	p.Val59=	p.V59=	ENST00000307404	NM_015201.3	59	gtG/gtA	0	validated		synonymous	
LARS		inserm.fr	GRCh37	5	145533533	145533533	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000394434.2:c.1076G>A	p.Gly359Asp	p.G359D	ENST00000394434	NM_020117.9	359	gGt/gAt	0	not done		probablydamaging	
LARS		inserm.fr	GRCh37	5	145537071	145537071	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1207T																					ENST00000394434.2:c.960T>A	p.Asn320Lys	p.N320K	ENST00000394434	NM_020117.9	320	aaT/aaA	0	not done		benign	
HSF1		inserm.fr	GRCh37	8	145537971	145537971	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000528838.1:c.1568C>T	p.Ala523Val	p.A523V	ENST00000528838	NM_005526.2	523	gCc/gTc	0	not done		probablydamaging	
ANKRD35		inserm.fr	GRCh37	1	145556626	145556626	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000355594.4:c.196C>T	p.Leu66=	p.L66=	ENST00000355594	NM_144698.4	66	Ctg/Ttg	0	not done		synonymous	
HHIP		inserm.fr	GRCh37	4	145567944	145567944	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000296575.3:c.117C>T	p.Cys39=	p.C39=	ENST00000296575	NM_022475.2	39	tgC/tgT	0	not done		synonymous	
TMEM249		inserm.fr	GRCh37	8	145577738	145577738	+	synonymous_variant	Silent	SNP	C	T	T			CHC451T																					ENST00000398633.3:c.318G>A	p.Ser106=	p.S106=	ENST00000398633	NM_001252402.2	106	tcG/tcA	0	validated			
TMEM249		inserm.fr	GRCh37	8	145577810	145577810	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000398633.3:c.247-1G>A		p.X83_splice	ENST00000398633	NM_001252402.2			0	not done		damaging	
FBXL6		inserm.fr	GRCh37	8	145582017	145582017	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC327T									Valid												ENST00000331890.5:c.91G>A	p.Ala31Thr	p.A31T	ENST00000331890	NM_012162.3	31	Gcg/Acg	0	validated		possiblydamaging	
HHIP		inserm.fr	GRCh37	4	145628327	145628327	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC879T																					ENST00000296575.3:c.1072C>T	p.Leu358Phe	p.L358F	ENST00000296575	NM_022475.2	358	Ctc/Ttc	0	not done		probablydamaging	
HHIP		inserm.fr	GRCh37	4	145635480	145635480	+	synonymous_variant	Silent	SNP	C	T	T			CHC1531T																					ENST00000296575.3:c.1527C>T	p.Tyr509=	p.Y509=	ENST00000296575	NM_022475.2	509	taC/taT	0	not done		synonymous	
TONSL		inserm.fr	GRCh37	8	145661332	145661332	+	synonymous_variant	Silent	SNP	C	T	T			CHC1040T																					ENST00000409379.3:c.2484G>A	p.Glu828=	p.E828=	ENST00000409379	NM_013432.4	828	gaG/gaA	0	not done		synonymous	
MFSD3		inserm.fr	GRCh37	8	145735245	145735245	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000301327.4:c.529G>T	p.Ala177Ser	p.A177S	ENST00000301327	NM_138431.1	177	Gcc/Tcc	0	not done		probablydamaging	
RECQL4		inserm.fr	GRCh37	8	145741245	145741245	+	synonymous_variant	Silent	SNP	C	T	T			BCB109T																					ENST00000428558.2:c.1161G>A	p.Gly387=	p.G387=	ENST00000428558	NM_004260.3	387	ggG/ggA	0	validated		synonymous	
RECQL4		inserm.fr	GRCh37	8	145742010	145742010	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC253T																					ENST00000428558.2:c.493C>A	p.Pro165Thr	p.P165T	ENST00000428558	NM_004260.3	165	Ccc/Acc	0	validated		benign	
ARHGAP39		inserm.fr	GRCh37	8	145757721	145757721	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC798T									Valid												ENST00000377307.2:c.2948T>A	p.Val983Glu	p.V983E	ENST00000377307	NM_025251.1	983	gTg/gAg	0	validated		probablydamaging	
ARHGAP39		inserm.fr	GRCh37	8	145771142	145771142	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1749T																					ENST00000377307.2:c.2012G>A	p.Ser671Asn	p.S671N	ENST00000377307	NM_025251.1	671	aGc/aAc	0	not done		benign	
ARHGAP39		inserm.fr	GRCh37	8	145773143	145773143	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC961T																					ENST00000377307.2:c.1327G>A	p.Val443Ile	p.V443I	ENST00000377307	NM_025251.1	443	Gtc/Atc	0	validated		benign	
ATF7IP		inserm.fr	GRCh37	12	14577366	14577366	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1044T																					ENST00000261168.4:c.517G>T	p.Asp173Tyr	p.D173Y	ENST00000261168	NM_018179.3	173	Gat/Tat	0	not done		possiblydamaging	
PLOD2		inserm.fr	GRCh37	3	145788563	145788563	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM423T																					ENST00000282903.5:c.2218G>A	p.Glu740Lys	p.E740K	ENST00000282903	NM_182943.2	740	Gaa/Aaa	0	validated		probablydamaging	
TCERG1		inserm.fr	GRCh37	5	145834838	145834838	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000296702.5:c.279C>T	p.His93=	p.H93=	ENST00000296702	NM_006706.3	93	caC/caT	0	not done		synonymous	
GIPC1		inserm.fr	GRCh37	19	14591465	14591465	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000393033.4:c.414G>A	p.Lys138=	p.K138=	ENST00000393033	NM_005716.3	138	aaG/aaA	0	not done		synonymous	
FAM105A		inserm.fr	GRCh37	5	14607439	14607439	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000274217.3:c.499C>T	p.Leu167Phe	p.L167F	ENST00000274217	NM_019018.2	167	Ctt/Ttt	0	not done		probablydamaging	
COMMD5		inserm.fr	GRCh37	8	146076274	146076274	+	synonymous_variant	Silent	SNP	C	T	T			CHC303T																					ENST00000450361.2:c.450G>A	p.Pro150=	p.P150=	ENST00000450361	NM_001081003.2	150	ccG/ccA	0	validated		synonymous	
ZNF250		inserm.fr	GRCh37	8	146108202	146108202	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000292579.7:c.381G>A	p.Glu127=	p.E127=	ENST00000292579	NM_021061.4	127	gaG/gaA	0	not done		synonymous	
ZNF252P		inserm.fr	GRCh37	8	146203248	146203248	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC892T																					ENST00000426361.2:n.937G>A		*313*	ENST00000426361				0	not done		synonymous	
ZNF252		inserm.fr	GRCh37	8	146228404	146228404	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC1148T																					ENST00000527067.1:n.208C>T		*70*	ENST00000527067				0	not done			
ZNF252P-AS1		inserm.fr	GRCh37	8	146228452	146228452	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC2110Tbis																					ENST00000527067.1:n.256C>T		*86*	ENST00000527067				0	not done			
PLSCR1		inserm.fr	GRCh37	3	146234809	146234809	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000342435.4:c.884G>A	p.Gly295Asp	p.G295D	ENST00000342435	NM_021105.2	295	gGt/gAt	0	not done		probablydamaging	
DNAJB1		inserm.fr	GRCh37	19	14627439	14627439	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000254322.2:c.631G>A	p.Gly211Arg	p.G211R	ENST00000254322	NM_006145.1	211	Ggg/Agg	0	not done		probablydamaging	
BRSK2		inserm.fr	GRCh37	11	1464343	1464343	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1717T																					ENST00000382179.1:c.676C>T	p.His226Tyr	p.H226Y	ENST00000382179	NM_001256630.1	226	Cac/Tac	0	validated		possiblydamaging	
GRM1		inserm.fr	GRCh37	6	146480666	146480666	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC327T																					ENST00000361719.2:c.883A>T	p.Thr295Ser	p.T295S	ENST00000361719		295	Aca/Tca	0	validated		benign	
GRM1		inserm.fr	GRCh37	6	146480697	146480697	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000361719.2:c.914G>T	p.Arg305Leu	p.R305L	ENST00000361719		305	cGc/cTc	0	not done		probablydamaging	
CNTNAP2		inserm.fr	GRCh37	7	146536889	146536889	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T									Valid												ENST00000361727.3:c.295G>T	p.Ala99Ser	p.A99S	ENST00000361727	NM_014141.5	99	Gca/Tca	0	validated		probablydamaging	
ZDHHC21		inserm.fr	GRCh37	9	14662273	14662273	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000380916.4:c.305G>A	p.Arg102His	p.R102H	ENST00000380916	NM_178566.4	102	cGt/cAt	0	validated		probablydamaging	
STK32A		inserm.fr	GRCh37	5	146657713	146657713	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC437T																					ENST00000397936.3:c.79C>T	p.Arg27Ter	p.R27*	ENST00000397936	NM_001112724.1	27	Cga/Tga	0	not done		damaging	
STK32A		inserm.fr	GRCh37	5	146741124	146741124	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC429T																					ENST00000397936.3:c.607G>T	p.Ala203Ser	p.A203S	ENST00000397936	NM_001112724.1	203	Gct/Tct	0	validated		benign	
CHD1L		inserm.fr	GRCh37	1	146747109	146747109	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000369258.4:c.1363G>T	p.Ala455Ser	p.A455S	ENST00000369258	NM_001256336.1	455	Gct/Tct	0	not done		possiblydamaging	
CNTNAP2		inserm.fr	GRCh37	7	146818086	146818086	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1082T																					ENST00000361727.3:c.770G>T	p.Gly257Val	p.G257V	ENST00000361727	NM_014141.5	257	gGc/gTc	0	validated		probablydamaging	
FMR1		inserm.fr	GRCh37	X	147030287	147030287	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2127T																					ENST00000370475.4:c.1822G>T	p.Gly608Cys	p.G608C	ENST00000370475	NM_002024.5	608	Ggt/Tgt	0	not done		probablydamaging	
ADGB		inserm.fr	GRCh37	6	147067221	147067221	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000397944.3:c.3341C>T	p.Pro1114Leu	p.P1114L	ENST00000397944	NM_024694.3	1114	cCc/cTc	0	not done		probablydamaging	
TMEM240		inserm.fr	GRCh37	1	1470861	1470861	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1207T																					ENST00000378733.4:c.400C>A	p.Leu134Met	p.L134M	ENST00000378733	NM_001114748.1	134	Ctg/Atg	0	not done		possiblydamaging	
BCL9		inserm.fr	GRCh37	1	147090881	147090881	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM529T																					ENST00000234739.3:c.920C>T	p.Ser307Leu	p.S307L	ENST00000234739	NM_004326.3	307	tCa/tTa	0	validated		probablydamaging	
ZIC4		inserm.fr	GRCh37	3	147114209	147114209	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC097T																					ENST00000525172.2:c.268C>A	p.Pro90Thr	p.P90T	ENST00000525172	NM_001168378.1	90	Ccc/Acc	0	not done		probablydamaging	
ADGB		inserm.fr	GRCh37	6	147122337	147122337	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1148T																					ENST00000397944.3:c.4556G>T	p.Arg1519Leu	p.R1519L	ENST00000397944	NM_024694.3	1519	cGa/cTa	0	not done		possiblydamaging	
ANKH		inserm.fr	GRCh37	5	14713745	14713745	+	synonymous_variant	Silent	SNP	C	T	T			CHC884T																					ENST00000284268.6:c.1173G>A	p.Leu391=	p.L391=	ENST00000284268	NM_054027.4	391	ctG/ctA	0	validated		synonymous	
GJA8		inserm.fr	GRCh37	1	147380239	147380239	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM695T																					ENST00000240986.4:c.157G>T	p.Val53Leu	p.V53L	ENST00000240986	NM_005267.4	53	Gtg/Ttg	0	validated		probablydamaging	
FREM1		inserm.fr	GRCh37	9	14746376	14746376	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000422223.2:c.6229G>A	p.Ala2077Thr	p.A2077T	ENST00000422223	NM_144966.5	2077	Gcg/Acg	0	not done		benign	
FREM1		inserm.fr	GRCh37	9	14746418	14746418	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC798T																					ENST00000422223.2:c.6187T>A	p.Tyr2063Asn	p.Y2063N	ENST00000422223	NM_144966.5	2063	Tac/Aac	0	validated		benign	
POU4F2		inserm.fr	GRCh37	4	147561793	147561793	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000281321.3:c.1063C>T	p.Pro355Ser	p.P355S	ENST00000281321	NM_004575.2	355	Cca/Tca	0	not done		possiblydamaging	
ANKRD30B		inserm.fr	GRCh37	18	14763745	14763745	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1751T																					ENST00000358984.4:c.881C>T	p.Thr294Met	p.T294M	ENST00000358984	NM_001145029.1	294	aCg/aTg	0	not done		probablydamaging	
AFF2		inserm.fr	GRCh37	X	147743913	147743913	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1185T																					ENST00000370460.2:c.665C>T	p.Pro222Leu	p.P222L	ENST00000370460	NM_002025.3	222	cCt/cTt	0	not done		benign	
UQCC4		inserm.fr	GRCh37	16	1478414	1478414	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC614T																					ENST00000310355.1:c.237G>A	p.Lys79=	p.K79=	ENST00000310355		79	aaG/aaA	0	validated		synonymous	
FREM1		inserm.fr	GRCh37	9	14784483	14784483	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1720T																					ENST00000422223.2:c.4327G>A	p.Glu1443Lys	p.E1443K	ENST00000422223	NM_144966.5	1443	Gaa/Aaa	0	not done		probablydamaging	
CNTNAP2		inserm.fr	GRCh37	7	147869340	147869340	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361727.3:c.2780C>T	p.Ala927Val	p.A927V	ENST00000361727	NM_014141.5	927	gCt/gTt	0	not done		benign	
SLC43A2		inserm.fr	GRCh37	17	1479025	1479025	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1052T									Valid												ENST00000301335.5:c.1583G>A	p.Gly528Asp	p.G528D	ENST00000301335		528	gGc/gAc	0	validated		probablydamaging	
ANKRD30B		inserm.fr	GRCh37	18	14791459	14791459	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1601T																					ENST00000358984.4:c.1794A>T	p.Lys598Asn	p.K598N	ENST00000358984	NM_001145029.1	598	aaA/aaT	0	not done		probablydamaging	
AFF2		inserm.fr	GRCh37	X	148037670	148037670	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1714T																					ENST00000370460.2:c.2095G>T	p.Gly699Trp	p.G699W	ENST00000370460	NM_002025.3	699	Ggg/Tgg	0	not done		probablydamaging	
TPO		inserm.fr	GRCh37	2	1481042	1481042	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000345913.4:c.1004C>T	p.Ala335Val	p.A335V	ENST00000345913	NM_000547.5	335	gCc/gTc	0	not done		benign	
PDE3B		inserm.fr	GRCh37	11	14810780	14810780	+	synonymous_variant	Silent	SNP	C	T	T			CHC1091T																					ENST00000282096.4:c.1407C>T	p.Gly469=	p.G469=	ENST00000282096	NM_000922.3	469	ggC/ggT	0	validated		synonymous	
TPO		inserm.fr	GRCh37	2	1481295	1481295	+	synonymous_variant	Silent	SNP	G	T	T			CHC197T																					ENST00000345913.4:c.1257G>T	p.Ala419=	p.A419=	ENST00000345913	NM_000547.5	419	gcG/gcT	0	validated		synonymous	
FAM107B		inserm.fr	GRCh37	10	14816397	14816397	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB307T									Valid												ENST00000181796.2:c.266C>A	p.Ala89Glu	p.A89E	ENST00000181796	NM_031453.2	89	gCg/gAg	0	validated		possiblydamaging	
FREM1		inserm.fr	GRCh37	9	14819348	14819348	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1081T																					ENST00000422223.2:c.2430C>A	p.Asp810Glu	p.D810E	ENST00000422223	NM_144966.5	810	gaC/gaA	0	validated		benign	
MICALL2		inserm.fr	GRCh37	7	1481982	1481982	+	synonymous_variant	Silent	SNP	C	T	T			CHC1601T																					ENST00000297508.7:c.1557G>A	p.Pro519=	p.P519=	ENST00000297508	NM_182924.3	519	ccG/ccA	0	not done		synonymous	
ADRB2		inserm.fr	GRCh37	5	148206403	148206403	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1626T																					ENST00000305988.4:c.9A>T	p.Gln3His	p.Q3H	ENST00000305988	NM_000024.5	3	caA/caT	0	validated		benign	
PDE3B		inserm.fr	GRCh37	11	14825488	14825488	+	splice_acceptor_variant	Splice_Site	SNP	A	T	T			CHC1148T																					ENST00000282096.4:c.1416-2A>T		p.X472_splice	ENST00000282096	NM_000922.3			0	not done		possiblydamaging	
C7orf33		inserm.fr	GRCh37	7	148288094	148288094	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1746T																					ENST00000307003.2:c.77C>T	p.Ala26Val	p.A26V	ENST00000307003	NM_145304.2	26	gCc/gTc	0	not done		benign	
PCSK4		inserm.fr	GRCh37	19	1483416	1483416	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC884T																					ENST00000300954.5:c.1438G>A	p.Ala480Thr	p.A480T	ENST00000300954	NM_017573.3	480	Gcc/Acc	0	validated		benign	
CUL1		inserm.fr	GRCh37	7	148481130	148481130	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T									Valid												ENST00000325222.4:c.1259A>T	p.Glu420Val	p.E420V	ENST00000325222	NM_003592.2	420	gAg/gTg	0	validated		probablydamaging	
FREM1		inserm.fr	GRCh37	9	14851333	14851333	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000422223.2:c.1101G>A	p.Gln367=	p.Q367=	ENST00000422223	NM_144966.5	367	caG/caA	0	not done		synonymous	
ANKRD30B		inserm.fr	GRCh37	18	14852041	14852041	+	synonymous_variant	Silent	SNP	C	T	T			CHC1708T																					ENST00000358984.4:c.3741C>T	p.Leu1247=	p.L1247=	ENST00000358984	NM_001145029.1	1247	ctC/ctT	0	validated		synonymous	
FREM1		inserm.fr	GRCh37	9	14859206	14859206	+	synonymous_variant	Silent	SNP	C	T	T			CHC1545T																					ENST00000422223.2:c.606G>A	p.Gln202=	p.Q202=	ENST00000422223	NM_144966.5	202	caG/caA	0	not done		synonymous	
FREM1		inserm.fr	GRCh37	9	14859300	14859300	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM683T																					ENST00000422223.2:c.512G>A	p.Cys171Tyr	p.C171Y	ENST00000422223	NM_144966.5	171	tGt/tAt	0	validated		probablydamaging	
FGD5		inserm.fr	GRCh37	3	14861793	14861793	+	synonymous_variant	Silent	SNP	C	T	T			CHC1754T																					ENST00000285046.5:c.1215C>T	p.Ala405=	p.A405=	ENST00000285046	NM_152536.3	405	gcC/gcT	0	not done		synonymous	
EMR2		inserm.fr	GRCh37	19	14863295	14863295	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC884T									Valid												ENST00000315576.3:c.1634G>A	p.Ser545Asn	p.S545N	ENST00000315576	NM_013447.3	545	aGc/aAc	0	validated		probablydamaging	
ACVR2A		inserm.fr	GRCh37	2	148676014	148676014	+	splice_acceptor_variant	Splice_Site	SNP	A	T	T			CHC1744T																					ENST00000241416.7:c.817-2A>T		p.X273_splice	ENST00000241416	NM_001616.4			0	not done		damaging	
ACVR2A		inserm.fr	GRCh37	2	148680635	148680635	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1719T																					ENST00000241416.7:c.1171G>T	p.Gly391Ter	p.G391*	ENST00000241416	NM_001616.4	391	Gga/Tga	0	not done		damaging	
ACVR2A		inserm.fr	GRCh37	2	148684650	148684650	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			BCM543T																					ENST00000241416.7:c.1349G>T	p.Gly450Val	p.G450V	ENST00000241416	NM_001616.4	450	gGa/gTa	0	validated		probablydamaging	
FANCB		inserm.fr	GRCh37	X	14868670	14868670	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB109T									Valid												ENST00000398334.1:c.1453G>A	p.Asp485Asn	p.D485N	ENST00000398334	NM_001018113.1	485	Gat/Aat	0	validated		probablydamaging	
TMEM185A		inserm.fr	GRCh37	X	148693072	148693072	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000316916.8:c.113G>A	p.Trp38Ter	p.W38*	ENST00000316916	NM_032508.2	38	tGg/tAg	0	not done		damaging	
PDIA4		inserm.fr	GRCh37	7	148702375	148702375	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000286091.4:c.1380G>A	p.Gly460=	p.G460=	ENST00000286091	NM_004911.4	460	ggG/ggA	0	not done		synonymous	
ZNF786		inserm.fr	GRCh37	7	148769362	148769362	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB167T																					ENST00000491431.1:c.502C>A	p.Pro168Thr	p.P168T	ENST00000491431	NM_152411.3	168	Ccc/Acc	0	validated		possiblydamaging	
HLTF		inserm.fr	GRCh37	3	148777515	148777515	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000310053.5:c.1365G>A	p.Met455Ile	p.M455I	ENST00000310053	NM_003071.3	455	atG/atA	0	not done		benign	
MAGEA11		inserm.fr	GRCh37	X	148796170	148796170	+	synonymous_variant	Silent	SNP	C	T	T			CHC884T																					ENST00000355220.5:c.126C>T	p.Phe42=	p.F42=	ENST00000355220	NM_005366.4	42	ttC/ttT	0	validated		synonymous	
MAGEA11		inserm.fr	GRCh37	X	148797592	148797592	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2200T																					ENST00000355220.5:c.446C>T	p.Ala149Val	p.A149V	ENST00000355220	NM_005366.4	149	gCc/gTc	0	not done		possiblydamaging	
FANCB		inserm.fr	GRCh37	X	14882749	14882749	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC434T																					ENST00000398334.1:c.884G>A	p.Gly295Glu	p.G295E	ENST00000398334	NM_001018113.1	295	gGa/gAa	0	validated		benign	
ZNF398		inserm.fr	GRCh37	7	148851389	148851389	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1751T																					ENST00000475153.1:c.377G>T	p.Trp126Leu	p.W126L	ENST00000475153		126	tGg/tTg	0	not done		probablydamaging	
ZNF398		inserm.fr	GRCh37	7	148851390	148851390	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1751T																					ENST00000475153.1:c.378G>T	p.Trp126Cys	p.W126C	ENST00000475153		126	tgG/tgT	0	not done		probablydamaging	
SASH1		inserm.fr	GRCh37	6	148853932	148853932	+	splice_acceptor_variant	Splice_Site	SNP	G	T	T			CHC1763T																					ENST00000367467.3:c.1565-1G>T		p.X522_splice	ENST00000367467	NM_015278.3			0	not done		damaging	
SASH1		inserm.fr	GRCh37	6	148865855	148865855	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1568T																					ENST00000367467.3:c.3249G>T	p.Arg1083Ser	p.R1083S	ENST00000367467	NM_015278.3	1083	agG/agT	0	not done		probablydamaging	
CSNK1A1		inserm.fr	GRCh37	5	148885046	148885046	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000515768.1:c.1054G>A	p.Gly352Ser	p.G352S	ENST00000515768		352	Ggc/Agc	0	not done		possiblydamaging	
CCDC154		inserm.fr	GRCh37	16	1488930	1488930	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000389176.3:c.792G>A	p.Ser264=	p.S264=	ENST00000389176	NM_001143980.1	264	tcG/tcA	0	validated		synonymous	
PDE3B		inserm.fr	GRCh37	11	14891005	14891005	+	splice_acceptor_variant	Splice_Site	SNP	A	T	T			CHC303T									Valid												ENST00000282096.4:c.3140-2A>T		p.X1047_splice	ENST00000282096	NM_000922.3			0	validated		possiblydamaging	
ZNF783		inserm.fr	GRCh37	7	148978869	148978869	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC121T																					ENST00000434415.1:c.1076G>T	p.Arg359Leu	p.R359L	ENST00000434415	NM_001195220.1	359	cGc/cTc	0	validated			
USP9Y		inserm.fr	GRCh37	Y	14903502	14903502	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1028T																					ENST00000338981.3:c.3758G>T	p.Gly1253Val	p.G1253V	ENST00000338981	NM_004654.3	1253	gGg/gTg	0	not done		probablydamaging	
NR3C2		inserm.fr	GRCh37	4	149073714	149073714	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM689T																					ENST00000358102.3:c.2416T>A	p.Trp806Arg	p.W806R	ENST00000358102	NM_001166104.1	806	Tgg/Agg	0	validated		probablydamaging	
OR7C1		inserm.fr	GRCh37	19	14910577	14910577	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000248073.2:c.372G>A	p.Val124=	p.V124=	ENST00000248073	NM_198944.1	124	gtG/gtA	0	not done		synonymous	
OR7C1		inserm.fr	GRCh37	19	14910594	14910594	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB325T									Valid												ENST00000248073.2:c.355G>A	p.Ala119Thr	p.A119T	ENST00000248073	NM_198944.1	119	Gcc/Acc	0	validated		probablydamaging	
REEP6		inserm.fr	GRCh37	19	1491320	1491320	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1626T																					ENST00000233596.3:c.52G>T	p.Val18Phe	p.V18F	ENST00000233596	NM_138393.1	18	Gtc/Ttc	0	not done		benign	
ZNF777		inserm.fr	GRCh37	7	149133781	149133781	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000247930.4:c.1224G>A	p.Gly408=	p.G408=	ENST00000247930	NM_015694.2	408	ggG/ggA	0	not done		synonymous	
ZNF777		inserm.fr	GRCh37	7	149152574	149152574	+	synonymous_variant	Silent	SNP	C	T	T			CHC2215T																					ENST00000247930.4:c.540G>A	p.Thr180=	p.T180=	ENST00000247930	NM_015694.2	180	acG/acA	0	not done		synonymous	
ZNF746		inserm.fr	GRCh37	7	149171870	149171870	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC433T									Valid												ENST00000458143.2:c.1543G>A	p.Glu515Lys	p.E515K	ENST00000458143	NM_001163474.1	515	Gag/Aag	0	validated		possiblydamaging	
PPARGC1B		inserm.fr	GRCh37	5	149206358	149206358	+	synonymous_variant	Silent	SNP	C	T	T			BCM325T																					ENST00000309241.5:c.375C>T	p.Thr125=	p.T125=	ENST00000309241	NM_133263.3	125	acC/acT	0	validated		synonymous	
PPARGC1B		inserm.fr	GRCh37	5	149216051	149216051	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T									Valid												ENST00000309241.5:c.2033A>T	p.Gln678Leu	p.Q678L	ENST00000309241	NM_133263.3	678	cAg/cTg	0	validated		probablydamaging	
MBD5		inserm.fr	GRCh37	2	149247371	149247371	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1205T																					ENST00000407073.1:c.3471G>T	p.Arg1157Ser	p.R1157S	ENST00000407073	NM_018328.4	1157	agG/agT	0	not done		probablydamaging	
KAZN		inserm.fr	GRCh37	1	14925525	14925525	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1749T																					ENST00000376030.2:c.32G>T	p.Arg11Leu	p.R11L	ENST00000376030	NM_201628.2	11	cGc/cTc	0	not done		probablydamaging	
MOSPD2		inserm.fr	GRCh37	X	14927083	14927083	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000380492.3:c.679C>T	p.Leu227=	p.L227=	ENST00000380492	NM_152581.3	227	Ctg/Ttg	0	not done		synonymous	
PDE6A		inserm.fr	GRCh37	5	149274784	149274784	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1732T																					ENST00000255266.5:c.1690G>A	p.Gly564Ser	p.G564S	ENST00000255266	NM_000440.2	564	Ggc/Agc	0	not done		probablydamaging	
MOSPD2		inserm.fr	GRCh37	X	14929534	14929534	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	T	T			CHC1915T									Valid												ENST00000380492.3:c.878A>T	p.Lys293Met	p.K293M	ENST00000380492	NM_152581.3	293	aAg/aTg	0	validated		probablydamaging	
NR3C2		inserm.fr	GRCh37	4	149357979	149357979	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000358102.3:c.34G>A	p.Gly12Ser	p.G12S	ENST00000358102	NM_001166104.1	12	Ggt/Agt	0	not done		benign	
FGD5		inserm.fr	GRCh37	3	14940305	14940305	+	synonymous_variant	Silent	SNP	C	T	T			CHC793T																					ENST00000285046.5:c.3126C>T	p.Arg1042=	p.R1042=	ENST00000285046	NM_152536.3	1042	cgC/cgT	0	validated		synonymous	
WBP11		inserm.fr	GRCh37	12	14942065	14942065	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261167.2:c.1312G>A	p.Ala438Thr	p.A438T	ENST00000261167	NM_016312.2	438	Gct/Act	0	not done		probablydamaging	
KRBA1		inserm.fr	GRCh37	7	149423015	149423015	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000255992.10:c.1338G>T	p.Gln446His	p.Q446H	ENST00000255992	NM_032534.2	446	caG/caT	0	not done		probablydamaging	
ZNF467		inserm.fr	GRCh37	7	149462185	149462185	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000302017.3:c.1406G>A	p.Gly469Asp	p.G469D	ENST00000302017	NM_207336.1	469	gGc/gAc	0	not done		probablydamaging	
ZNF467		inserm.fr	GRCh37	7	149462508	149462508	+	synonymous_variant	Silent	SNP	G	T	T			CHC793T																					ENST00000302017.3:c.1083C>A	p.Gly361=	p.G361=	ENST00000302017	NM_207336.1	361	ggC/ggA	0	validated		synonymous	
ZNF467		inserm.fr	GRCh37	7	149462610	149462610	+	synonymous_variant	Silent	SNP	C	T	T			CHC1616T																					ENST00000302017.3:c.981G>A	p.Pro327=	p.P327=	ENST00000302017	NM_207336.1	327	ccG/ccA	0	not done		synonymous	
SLC43A2		inserm.fr	GRCh37	17	1494682	1494682	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000301335.5:c.812G>A	p.Arg271Gln	p.R271Q	ENST00000301335		271	cGg/cAg	0	not done		benign	
PDGFRB		inserm.fr	GRCh37	5	149495477	149495477	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2200T																					ENST00000261799.4:c.3170C>A	p.Thr1057Asn	p.T1057N	ENST00000261799	NM_002609.3	1057	aCc/aAc	0	not done		probablydamaging	
SSPO		inserm.fr	GRCh37	7	149519685	149519685	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			BCM711T																					ENST00000378016.2:n.13175C>T		*4392*	ENST00000378016				0	validated		probablydamaging	
OR7A10		inserm.fr	GRCh37	19	14952326	14952326	+	synonymous_variant	Silent	SNP	G	T	T			CHC1211T																					ENST00000248058.1:c.364C>A	p.Arg122=	p.R122=	ENST00000248058	NM_001005190.1	122	Cgg/Agg	0	not done		synonymous	
CDX1		inserm.fr	GRCh37	5	149546609	149546609	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2113T																					ENST00000231656.8:c.170C>T	p.Pro57Leu	p.P57L	ENST00000231656	NM_001804.2	57	cCc/cTc	0	validated		probablydamaging	
SLC6A7		inserm.fr	GRCh37	5	149581939	149581939	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000230671.2:c.888C>T	p.Phe296=	p.F296=	ENST00000230671	NM_014228.3	296	ttC/ttT	0	not done		synonymous	
CAMK2A		inserm.fr	GRCh37	5	149602625	149602625	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000398376.3:c.1393G>A	p.Val465Ile	p.V465I	ENST00000398376		465	Gtc/Atc	0	not done		benign	
MAMLD1		inserm.fr	GRCh37	X	149631095	149631095	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000432680.2:c.97-6922C>T		*33*	ENST00000432680	NM_001177465.2			0	not done		probablydamaging	
ARSI		inserm.fr	GRCh37	5	149678005	149678005	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000328668.7:c.482G>A	p.Arg161His	p.R161H	ENST00000328668	NM_001012301.2	161	cGt/cAt	0	validated		possiblydamaging	
CLCN7		inserm.fr	GRCh37	16	1497014	1497014	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM321T																					ENST00000382745.4:c.2324G>A	p.Arg775His	p.R775H	ENST00000382745	NM_001287.5	775	cGc/cAc	0	validated		benign	
DLGAP2		inserm.fr	GRCh37	8	1497479	1497479	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC451T																					ENST00000421627.2:c.620G>T	p.Gly207Val	p.G207V	ENST00000421627	NM_004745.4	207	gGc/gTc	0	validated		possiblydamaging	
TCOF1		inserm.fr	GRCh37	5	149754260	149754260	+	synonymous_variant	Silent	SNP	A	T	T			CHC433T																					ENST00000504761.2:c.1164A>T	p.Pro388=	p.P388=	ENST00000504761		388	ccA/ccT	0	validated		synonymous	
TCOF1		inserm.fr	GRCh37	5	149759112	149759112	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000504761.2:c.2676G>T	p.Lys892Asn	p.K892N	ENST00000504761		892	aaG/aaT	0	not done		possiblydamaging	
TCOF1		inserm.fr	GRCh37	5	149767572	149767572	+	synonymous_variant	Silent	SNP	C	T	T			CHC796T																					ENST00000504761.2:c.2967C>T	p.Ala989=	p.A989=	ENST00000504761		989	gcC/gcT	0	validated		synonymous	
ZC3H12D		inserm.fr	GRCh37	6	149771909	149771909	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000409806.3:c.1494G>A	p.Met498Ile	p.M498I	ENST00000409806		498	atG/atA	0	not done		probablydamaging	
HIST2H2BE		inserm.fr	GRCh37	1	149857914	149857914	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC433T																					ENST00000369155.2:c.277C>A	p.Arg93Ser	p.R93S	ENST00000369155	NM_003528.2	93	Cgc/Agc	0	validated		probablydamaging	
BOLA1		inserm.fr	GRCh37	1	149871947	149871947	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000369153.2:c.335C>T	p.Ala112Val	p.A112V	ENST00000369153		112	gCc/gTc	0	not done		benign	
SV2A		inserm.fr	GRCh37	1	149885074	149885074	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000369146.3:c.319G>A	p.Gly107Arg	p.G107R	ENST00000369146	NM_014849.4	107	Ggg/Agg	0	not done		benign	
NDST1		inserm.fr	GRCh37	5	149900868	149900868	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000261797.6:c.52G>T	p.Ala18Ser	p.A18S	ENST00000261797	NM_001543.4	18	Gct/Tct	0	not done		benign	
MTMR1		inserm.fr	GRCh37	X	149912923	149912923	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000544228.1:c.1540C>T	p.Gln514Ter	p.Q514*	ENST00000544228		514	Cag/Tag	0	not done		damaging	
ART4		inserm.fr	GRCh37	12	14993469	14993469	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC258T									Valid												ENST00000228936.4:c.763G>A	p.Val255Ile	p.V255I	ENST00000228936	NM_021071.2	255	Gtt/Att	0	validated		probablydamaging	
CD99L2		inserm.fr	GRCh37	X	149983422	149983422	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000370377.3:c.203-13G>A		*68*	ENST00000370377	NM_031462.3			0	not done		damaging	
SYNPO		inserm.fr	GRCh37	5	150028986	150028986	+	synonymous_variant	Silent	SNP	C	T	T			CHC1915T																					ENST00000394243.1:c.1881C>T	p.Phe627=	p.F627=	ENST00000394243	NM_001166208.1	627	ttC/ttT	0	validated		synonymous	
CPEB2		inserm.fr	GRCh37	4	15005227	15005227	+	synonymous_variant	Silent	SNP	G	T	T			CHC510T																					ENST00000538197.1:c.930G>T	p.Ala310=	p.A310=	ENST00000538197	NM_001177382.1	310	gcG/gcT	0	validated		synonymous	
CPEB2		inserm.fr	GRCh37	4	15005852	15005852	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1756T																					ENST00000538197.1:c.1555C>T	p.Gln519Ter	p.Q519*	ENST00000538197	NM_001177382.1	519	Cag/Tag	0	validated		damaging	
REPIN1		inserm.fr	GRCh37	7	150068544	150068544	+	synonymous_variant	Silent	SNP	C	T	T			BCM759T																					ENST00000489432.2:c.385C>T	p.Leu129=	p.L129=	ENST00000489432	NM_001099695.1	129	Ctg/Ttg	0	validated		synonymous	
CPEB2		inserm.fr	GRCh37	4	15009106	15009106	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC465T									Valid												ENST00000538197.1:c.1840C>T	p.Pro614Ser	p.P614S	ENST00000538197	NM_001177382.1	614	Cca/Tca	0	validated		probablydamaging	
CPEB2		inserm.fr	GRCh37	4	15009153	15009153	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2358T																					ENST00000538197.1:c.1887G>T	p.Trp629Cys	p.W629C	ENST00000538197	NM_001177382.1	629	tgG/tgT	0	validated		probablydamaging	
TSC22D2		inserm.fr	GRCh37	3	150128548	150128548	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2029T																					ENST00000361875.3:c.1411G>T	p.Gly471Cys	p.G471C	ENST00000361875	NM_014779.2	471	Ggt/Tgt	0	not done		probablydamaging	
POTED		inserm.fr	GRCh37	21	15013713	15013713	+	synonymous_variant	Silent	SNP	C	T	T			CHC1035T																					ENST00000299443.5:c.1581C>T	p.Ser527=	p.S527=	ENST00000299443	NM_174981.3	527	agC/agT	0	validated		synonymous	
LRP11		inserm.fr	GRCh37	6	150184593	150184593	+	synonymous_variant	Silent	SNP	G	T	T			CHC1746T																					ENST00000239367.2:c.564C>A	p.Arg188=	p.R188=	ENST00000239367	NM_032832.5	188	cgC/cgA	0	validated		synonymous	
CLCN7		inserm.fr	GRCh37	16	1502804	1502804	+	synonymous_variant	Silent	SNP	C	T	T			BCM337T																					ENST00000382745.4:c.1305G>A	p.Ser435=	p.S435=	ENST00000382745	NM_001287.5	435	tcG/tcA	0	validated		synonymous	
ULBP1		inserm.fr	GRCh37	6	150285190	150285190	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000229708.3:c.5C>T	p.Ala2Val	p.A2V	ENST00000229708	NM_025218.2	2	gCa/gTa	0	not done		probablydamaging	
GIMAP6		inserm.fr	GRCh37	7	150325653	150325653	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000328902.5:c.86-53G>A		*29*	ENST00000328902	NM_024711.5			0	not done			
GPR50		inserm.fr	GRCh37	X	150349066	150349066	+	synonymous_variant	Silent	SNP	C	T	T			CHC2113T																					ENST00000218316.3:c.1011C>T	p.Arg337=	p.R337=	ENST00000218316	NM_004224.3	337	cgC/cgT	0	not done		synonymous	
GPX3		inserm.fr	GRCh37	5	150400239	150400239	+	synonymous_variant	Silent	SNP	C	T	T			CHC429T																					ENST00000388825.4:c.24C>T	p.Ser8=	p.S8=	ENST00000388825	NM_002084.3	8	tcC/tcT	0	validated		synonymous	
TNIP1		inserm.fr	GRCh37	5	150413202	150413202	+	synonymous_variant	Silent	SNP	C	T	T			CHC437T																					ENST00000389378.2:c.1746G>A	p.Pro582=	p.P582=	ENST00000389378	NM_001252385.1	582	ccG/ccA	0	validated		synonymous	
TNIP1		inserm.fr	GRCh37	5	150413202	150413202	+	synonymous_variant	Silent	SNP	C	T	T			BCM399T																					ENST00000389378.2:c.1746G>A	p.Pro582=	p.P582=	ENST00000389378	NM_001252385.1	582	ccG/ccA	0	validated		synonymous	
MMADHC		inserm.fr	GRCh37	2	150426570	150426570	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1053T																					ENST00000428879.1:c.809G>A	p.Trp270Ter	p.W270*	ENST00000428879		270	tGg/tAg	0	validated		damaging	
TARS2		inserm.fr	GRCh37	1	150459933	150459933	+	synonymous_variant	Silent	SNP	C	T	T			BCB325T																					ENST00000369064.3:c.7C>T	p.Leu3=	p.L3=	ENST00000369064	NM_025150.4	3	Ctg/Ttg	0	validated		synonymous	
PPP1R14C		inserm.fr	GRCh37	6	150464474	150464474	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361131.4:c.146C>T	p.Pro49Leu	p.P49L	ENST00000361131	NM_030949.2	49	cCc/cTc	0	not done		benign	
TARS2		inserm.fr	GRCh37	1	150469337	150469337	+	synonymous_variant	Silent	SNP	C	T	T			CHC1592T																					ENST00000369064.3:c.973C>T	p.Leu325=	p.L325=	ENST00000369064	NM_025150.4	325	Ctg/Ttg	0	not done		synonymous	
TMEM176B		inserm.fr	GRCh37	7	150493604	150493604	+	synonymous_variant	Silent	SNP	G	T	T			CHC1055T																					ENST00000447204.2:c.54C>A	p.Ser18=	p.S18=	ENST00000447204	NM_014020.3	18	tcC/tcA	0	validated		synonymous	
ANXA6		inserm.fr	GRCh37	5	150515876	150515876	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000354546.5:c.430G>A	p.Ala144Thr	p.A144T	ENST00000354546	NM_001155.4	144	Gct/Act	0	not done		benign	
OR7C2		inserm.fr	GRCh37	19	15052367	15052367	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC314T																					ENST00000248072.3:c.67A>T	p.Met23Leu	p.M23L	ENST00000248072	NM_012377.1	23	Atg/Ttg	0	validated		benign	
CCDC69		inserm.fr	GRCh37	5	150563148	150563148	+	synonymous_variant	Silent	SNP	C	T	T			CHC2128T																					ENST00000355417.2:c.741G>A	p.Thr247=	p.T247=	ENST00000355417	NM_015621.2	247	acG/acA	0	not done		synonymous	
GM2A		inserm.fr	GRCh37	5	150646474	150646474	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	T	T			CHC1148T																					ENST00000357164.3:c.426A>T	p.Glu142Asp	p.E142D	ENST00000357164	NM_000405.4	142	gaA/gaT	0	not done		possiblydamaging	
KCNH2		inserm.fr	GRCh37	7	150647241	150647241	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000262186.5:c.2398+15G>A		*800*	ENST00000262186	NM_000238.3			0	not done			
NOS3		inserm.fr	GRCh37	7	150695503	150695503	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T									Valid												ENST00000297494.3:c.641A>T	p.His214Leu	p.H214L	ENST00000297494	NM_000603.4	214	cAc/cTc	0	validated		probablydamaging	
NOS3		inserm.fr	GRCh37	7	150704089	150704089	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000297494.3:c.1933C>T	p.Leu645Phe	p.L645F	ENST00000297494	NM_000603.4	645	Ctc/Ttc	0	not done		benign	
ATG9B		inserm.fr	GRCh37	7	150716345	150716345	+	synonymous_variant	Silent	SNP	G	T	T			CHC961T																					ENST00000377974.2:c.1080C>A	p.Arg360=	p.R360=	ENST00000377974		360	cgC/cgA	0	validated		synonymous	
ATG9B		inserm.fr	GRCh37	7	150721110	150721110	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1746T																					ENST00000377974.2:c.401C>A	p.Pro134His	p.P134H	ENST00000377974		134	cCc/cAc	0	not done		probablydamaging	
SLC4A2		inserm.fr	GRCh37	7	150765106	150765106	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC313T									Valid												ENST00000485713.1:c.1112G>T	p.Arg371Leu	p.R371L	ENST00000485713	NM_001199692.1	371	cGc/cTc	0	validated		possiblydamaging	
SLC4A2		inserm.fr	GRCh37	7	150772423	150772423	+	synonymous_variant	Silent	SNP	C	T	T			CHC303T																					ENST00000485713.1:c.3129C>T	p.Gly1043=	p.G1043=	ENST00000485713	NM_001199692.1	1043	ggC/ggT	0	validated		synonymous	
ARNT		inserm.fr	GRCh37	1	150814944	150814944	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000358595.5:c.228G>A	p.Arg76=	p.R76=	ENST00000358595	NM_178427.2	76	agG/agA	0	not done		damaging	
PASD1		inserm.fr	GRCh37	X	150832633	150832633	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1185T																					ENST00000370357.4:c.884C>T	p.Pro295Leu	p.P295L	ENST00000370357	NM_173493.2	295	cCa/cTa	0	not done		benign	
SLC1A6		inserm.fr	GRCh37	19	15083571	15083571	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1148T																					ENST00000221742.3:c.152G>A	p.Arg51His	p.R51H	ENST00000221742	NM_005071.2	51	cGc/cAc	0	validated		possiblydamaging	
SLC1A6		inserm.fr	GRCh37	19	15083615	15083615	+	synonymous_variant	Silent	SNP	G	T	T			CHC912T																					ENST00000221742.3:c.108C>A	p.Arg36=	p.R36=	ENST00000221742	NM_005071.2	36	cgC/cgA	0	validated		synonymous	
AGAP3		inserm.fr	GRCh37	7	150839673	150839673	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1052T									Valid												ENST00000397238.2:c.2225G>T	p.Trp742Leu	p.W742L	ENST00000397238	NM_031946.5	742	tGg/tTg	0	validated		probablydamaging	
AGAP3		inserm.fr	GRCh37	7	150840530	150840530	+	synonymous_variant	Silent	SNP	C	T	T			CHC889T																					ENST00000397238.2:c.2376C>T	p.Ala792=	p.A792=	ENST00000397238	NM_031946.5	792	gcC/gcT	0	not done		synonymous	
PRRG3		inserm.fr	GRCh37	X	150868477	150868477	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2362T																					ENST00000370353.3:c.17A>T	p.Glu6Val	p.E6V	ENST00000370353		6	gAg/gTg	0	validated		benign	
FAT2		inserm.fr	GRCh37	5	150908839	150908839	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2215T																					ENST00000261800.5:c.9926T>A	p.Val3309Asp	p.V3309D	ENST00000261800	NM_001447.2	3309	gTc/gAc	0	not done		probablydamaging	
CNGA2		inserm.fr	GRCh37	X	150912482	150912482	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1594T																					ENST00000329903.4:c.1507G>T	p.Ala503Ser	p.A503S	ENST00000329903	NM_005140.1	503	Gct/Tct	0	not done		possiblydamaging	
CNGA2		inserm.fr	GRCh37	X	150912950	150912950	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1738T																					ENST00000329903.4:c.1975G>T	p.Ala659Ser	p.A659S	ENST00000329903	NM_005140.1	659	Gct/Tct	0	not done		benign	
ABCF2		inserm.fr	GRCh37	7	150920778	150920778	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000222388.2:c.708G>A	p.Arg236=	p.R236=	ENST00000222388	NM_005692.4	236	agG/agA	0	not done		synonymous	
P2RY14		inserm.fr	GRCh37	3	150931730	150931730	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000309170.3:c.375G>A	p.Lys125=	p.K125=	ENST00000309170	NM_014879.3	125	aaG/aaA	0	not done		synonymous	
FAT2		inserm.fr	GRCh37	5	150934191	150934191	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC301T									Valid												ENST00000261800.5:c.3677C>A	p.Ser1226Tyr	p.S1226Y	ENST00000261800	NM_001447.2	1226	tCc/tAc	0	validated		probablydamaging	
CHPF2		inserm.fr	GRCh37	7	150935075	150935075	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1594T																					ENST00000035307.2:c.1627C>T	p.Leu543Phe	p.L543F	ENST00000035307	NM_019015.1	543	Ctt/Ttt	0	not done		probablydamaging	
DCLK2		inserm.fr	GRCh37	4	151000392	151000392	+	synonymous_variant	Silent	SNP	C	T	T			CHC1207T																					ENST00000302176.8:c.213C>T	p.Ala71=	p.A71=	ENST00000302176	NM_001040261.4	71	gcC/gcT	0	not done		synonymous	
C1orf56		inserm.fr	GRCh37	1	151020974	151020974	+	synonymous_variant	Silent	SNP	C	T	T			CHC2029T																					ENST00000368926.5:c.651C>T	p.Thr217=	p.T217=	ENST00000368926	NM_017860.3	217	acC/acT	0	not done		synonymous	
SPARC		inserm.fr	GRCh37	5	151043147	151043147	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000231061.4:c.897G>A	p.Lys299=	p.K299=	ENST00000231061	NM_003118.3	299	aaG/aaA	0	not done		synonymous	
GABPB2		inserm.fr	GRCh37	1	151060736	151060736	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1566T																					ENST00000368918.3:c.71C>T	p.Thr24Met	p.T24M	ENST00000368918	NM_144618.2	24	aCg/aTg	0	not done		probablydamaging	
WDR86		inserm.fr	GRCh37	7	151078821	151078821	+	synonymous_variant	Silent	SNP	C	T	T			CHC465T																					ENST00000334493.6:c.978G>A	p.Gln326=	p.Q326=	ENST00000334493	NM_198285.2	326	caG/caA	0	validated		synonymous	
WDR86		inserm.fr	GRCh37	7	151092995	151092995	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC437T																					ENST00000334493.6:c.593G>A	p.Cys198Tyr	p.C198Y	ENST00000334493	NM_198285.2	198	tGc/tAc	0	not done		probablydamaging	
MED12L		inserm.fr	GRCh37	3	151100524	151100524	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000474524.1:c.4566C>T	p.Arg1522=	p.R1522=	ENST00000474524	NM_053002.4	1522	cgC/cgT	0	not done		synonymous	
SEMA6C		inserm.fr	GRCh37	1	151105080	151105080	+	synonymous_variant	Silent	SNP	G	T	T			CHC961T																					ENST00000368913.3:c.2769C>A	p.Gly923=	p.G923=	ENST00000368913	NM_001178061.1	923	ggC/ggA	0	validated		synonymous	
TMOD4		inserm.fr	GRCh37	1	151146876	151146876	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2115T																					ENST00000295314.4:c.271G>A	p.Glu91Lys	p.E91K	ENST00000295314	NM_013353.2	91	Gag/Aag	0	not done		probablydamaging	
PLEKHG1		inserm.fr	GRCh37	6	151151836	151151836	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1534T																					ENST00000367328.1:c.1589G>T	p.Arg530Ile	p.R530I	ENST00000367328	NM_001029884.1	530	aGa/aTa	0	validated		probablydamaging	
IGSF10		inserm.fr	GRCh37	3	151155340	151155340	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1600T																					ENST00000282466.3:c.7009C>A	p.Pro2337Thr	p.P2337T	ENST00000282466	NM_178822.4	2337	Ccg/Acg	0	not done		probablydamaging	
PSMD4		inserm.fr	GRCh37	1	151236454	151236454	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1201T																					ENST00000368884.3:c.232G>T	p.Val78Phe	p.V78F	ENST00000368884	NM_002810.2	78	Gtc/Ttc	0	not done		probablydamaging	
PSMD4		inserm.fr	GRCh37	1	151237990	151237990	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1591T																					ENST00000368884.3:c.559C>T	p.Pro187Ser	p.P187S	ENST00000368884	NM_002810.2	187	Ccg/Tcg	0	not done		possiblydamaging	
ZNF687		inserm.fr	GRCh37	1	151261667	151261667	+	synonymous_variant	Silent	SNP	C	T	T			CHC1209T																					ENST00000324048.5:c.2391C>T	p.Cys797=	p.C797=	ENST00000324048		797	tgC/tgT	0	not done		synonymous	
LRBA		inserm.fr	GRCh37	4	151271230	151271230	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000357115.3:c.7309G>A	p.Ala2437Thr	p.A2437T	ENST00000357115	NM_006726.4	2437	Gct/Act	0	not done		probablydamaging	
PRKAG2		inserm.fr	GRCh37	7	151273529	151273529	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000287878.4:c.874G>A	p.Ala292Thr	p.A292T	ENST00000287878	NM_016203.3	292	Gcc/Acc	0	not done		probablydamaging	
PI4KB		inserm.fr	GRCh37	1	151278719	151278719	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1712T																					ENST00000368875.2:c.1339T>A	p.Cys447Ser	p.C447S	ENST00000368875	NM_002651.2	447	Tgt/Agt	0	not done		possiblydamaging	
GABRA3		inserm.fr	GRCh37	X	151336850	151336850	+	synonymous_variant	Silent	SNP	C	T	T			BCM375T																					ENST00000370314.4:c.1329G>A	p.Pro443=	p.P443=	ENST00000370314	NM_000808.3	443	ccG/ccA	0	validated		synonymous	
SELENBP1		inserm.fr	GRCh37	1	151338789	151338789	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1040T																					ENST00000368868.5:c.805G>A	p.Ala269Thr	p.A269T	ENST00000368868	NM_003944.3	269	Gca/Aca	0	not done		benign	
NTAN1		inserm.fr	GRCh37	16	15138235	15138235	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1062T																					ENST00000287706.3:c.389G>A	p.Ser130Asn	p.S130N	ENST00000287706	NM_001270766.1	130	aGt/aAt	0	validated		benign	
DLGAP2		inserm.fr	GRCh37	8	1513979	1513979	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000421627.2:c.1121C>T	p.Pro374Leu	p.P374L	ENST00000421627	NM_004745.4	374	cCc/cTc	0	not done		probablydamaging	
DLGAP2		inserm.fr	GRCh37	8	1514017	1514017	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000421627.2:c.1159C>T	p.Leu387=	p.L387=	ENST00000421627	NM_004745.4	387	Ctg/Ttg	0	not done		synonymous	
LRBA		inserm.fr	GRCh37	4	151408923	151408923	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000357115.3:c.6545G>A	p.Arg2182His	p.R2182H	ENST00000357115	NM_006726.4	2182	cGt/cAt	0	validated		probablydamaging	
AADACL2		inserm.fr	GRCh37	3	151474914	151474914	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000356517.3:c.738C>T	p.Ala246=	p.A246=	ENST00000356517	NM_207365.3	246	gcC/gcT	0	not done		synonymous	
AADAC		inserm.fr	GRCh37	3	151545487	151545487	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1738T																					ENST00000232892.7:c.727A>T	p.Lys243Ter	p.K243*	ENST00000232892	NM_001086.2	243	Aaa/Taa	0	not done		damaging	
AKAP12		inserm.fr	GRCh37	6	151670026	151670026	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000402676.2:c.500C>T	p.Ala167Val	p.A167V	ENST00000402676	NM_005100.3	167	gCt/gTt	0	not done		possiblydamaging	
CELF3		inserm.fr	GRCh37	1	151688450	151688450	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1616T																					ENST00000290583.4:c.47G>A	p.Arg16Lys	p.R16K	ENST00000290583	NM_001172648.1	16	aGg/aAg	0	not done		probablydamaging	
GALNTL5		inserm.fr	GRCh37	7	151699883	151699883	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000392800.2:c.743C>T	p.Pro248Leu	p.P248L	ENST00000392800	NM_145292.3	248	cCc/cTc	0	not done		possiblydamaging	
LRBA		inserm.fr	GRCh37	4	151771919	151771919	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000357115.3:c.3961G>A	p.Asp1321Asn	p.D1321N	ENST00000357115	NM_006726.4	1321	Gat/Aat	0	not done		probablydamaging	
LINGO4		inserm.fr	GRCh37	1	151774809	151774809	+	synonymous_variant	Silent	SNP	C	T	T			CHC2351T																					ENST00000368820.3:c.372G>A	p.Gly124=	p.G124=	ENST00000368820	NM_001004432.2	124	ggG/ggA	0	not done		synonymous	
NMUR2		inserm.fr	GRCh37	5	151784262	151784262	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1052T									Valid												ENST00000255262.3:c.413C>A	p.Thr138Asn	p.T138N	ENST00000255262	NM_020167.4	138	aCc/aAc	0	validated		probablydamaging	
GABRQ		inserm.fr	GRCh37	X	151820033	151820033	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1626T																					ENST00000370306.2:c.946C>T	p.Arg316Trp	p.R316W	ENST00000370306	NM_018558.3	316	Cgg/Tgg	0	not done		probablydamaging	
MLL3		inserm.fr	GRCh37	7	151878899	151878899	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000262189.6:c.6046G>A	p.Val2016Met	p.V2016M	ENST00000262189	NM_170606.2	2016	Gtg/Atg	0	not done		possiblydamaging	
TTC39B		inserm.fr	GRCh37	9	15189631	15189631	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000512701.2:c.1174G>A	p.Gly392Ser	p.G392S	ENST00000512701		392	Ggc/Agc	0	not done		benign	
INTS1		inserm.fr	GRCh37	7	1519207	1519207	+	synonymous_variant	Silent	SNP	G	T	T			CHC051T																					ENST00000404767.3:c.4188C>A	p.Pro1396=	p.P1396=	ENST00000404767	NM_001080453.2	1396	ccC/ccA	0	validated		synonymous	
MAGEA3		inserm.fr	GRCh37	X	151935748	151935748	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC432T																					ENST00000393902.3:c.419T>A	p.Val140Asp	p.V140D	ENST00000393902		140	gTc/gAc	0	not done		benign	
MLL3		inserm.fr	GRCh37	7	151949768	151949768	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000262189.6:c.1332G>A	p.Arg444=	p.R444=	ENST00000262189	NM_170606.2	444	cgG/cgA	0	not done		synonymous	
OR1I1		inserm.fr	GRCh37	19	15198424	15198424	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000209540.2:c.548C>T	p.Pro183Leu	p.P183L	ENST00000209540	NM_001004713.1	183	cCc/cTc	0	not done		probablydamaging	
NSDHL		inserm.fr	GRCh37	X	152031226	152031226	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC051T																					ENST00000370274.3:c.501A>T	p.Lys167Asn	p.K167N	ENST00000370274	NM_015922.2	167	aaA/aaT	0	validated		benign	
TCHH		inserm.fr	GRCh37	1	152082826	152082826	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM543T																					ENST00000368804.1:c.2867G>A	p.Arg956Gln	p.R956Q	ENST00000368804	NM_007113.3	956	cGg/cAg	0	validated		benign	
TCHH		inserm.fr	GRCh37	1	152082993	152082993	+	synonymous_variant	Silent	SNP	C	T	T			CHC1081T																					ENST00000368804.1:c.2700G>A	p.Arg900=	p.R900=	ENST00000368804	NM_007113.3	900	agG/agA	0	validated		synonymous	
TCHH		inserm.fr	GRCh37	1	152083442	152083442	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC801T																					ENST00000368804.1:c.2251G>A	p.Glu751Lys	p.E751K	ENST00000368804	NM_007113.3	751	Gag/Aag	0	not done		benign	
TCHH		inserm.fr	GRCh37	1	152083449	152083449	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC465T									Valid												ENST00000368804.1:c.2244G>A	p.Trp748Ter	p.W748*	ENST00000368804	NM_007113.3	748	tgG/tgA	0	validated		damaging	
TCHH		inserm.fr	GRCh37	1	152083896	152083896	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000368804.1:c.1797G>A	p.Glu599=	p.E599=	ENST00000368804	NM_007113.3	599	gaG/gaA	0	not done		synonymous	
SH3D19		inserm.fr	GRCh37	4	152086804	152086804	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000304527.4:c.739G>A	p.Ala247Thr	p.A247T	ENST00000304527	NM_001009555.3	247	Gca/Aca	0	not done		benign	
SH3D19		inserm.fr	GRCh37	4	152096187	152096187	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000304527.4:c.329G>A	p.Gly110Asp	p.G110D	ENST00000304527	NM_001009555.3	110	gGc/gAc	0	not done		probablydamaging	
MLL3		inserm.fr	GRCh37	7	152132812	152132812	+	synonymous_variant	Silent	SNP	C	T	T			CHC912T																					ENST00000262189.6:c.60G>A	p.Glu20=	p.E20=	ENST00000262189	NM_170606.2	20	gaG/gaA	0	validated		synonymous	
HRNR		inserm.fr	GRCh37	1	152192596	152192596	+	synonymous_variant	Silent	SNP	C	T	T			BCM501T																					ENST00000368801.2:c.1509G>A	p.Arg503=	p.R503=	ENST00000368801	NM_001009931.2	503	agG/agA	0	validated		synonymous	
SYDE1		inserm.fr	GRCh37	19	15222139	15222139	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1742T																					ENST00000342784.2:c.1306C>T	p.Arg436Cys	p.R436C	ENST00000342784	NM_033025.4	436	Cgt/Tgt	0	not done		probablydamaging	
SYDE1		inserm.fr	GRCh37	19	15224565	15224565	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC434T																					ENST00000342784.2:c.1999C>T	p.Arg667Trp	p.R667W	ENST00000342784	NM_033025.4	667	Cgg/Tgg	0	validated		probablydamaging	
FLG		inserm.fr	GRCh37	1	152275596	152275596	+	synonymous_variant	Silent	SNP	A	T	T			CHC1531T																					ENST00000368799.1:c.11766T>A	p.Ser3922=	p.S3922=	ENST00000368799	NM_002016.1	3922	tcT/tcA	0	not done		synonymous	
FLG		inserm.fr	GRCh37	1	152281136	152281136	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2321T																					ENST00000368799.1:c.6226G>A	p.Ala2076Thr	p.A2076T	ENST00000368799	NM_002016.1	2076	Gca/Aca	0	validated		benign	
FLG		inserm.fr	GRCh37	1	152281822	152281822	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1052T																					ENST00000368799.1:c.5540C>A	p.Thr1847Lys	p.T1847K	ENST00000368799	NM_002016.1	1847	aCg/aAg	0	validated		probablydamaging	
FLG		inserm.fr	GRCh37	1	152282102	152282102	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2141T																					ENST00000368799.1:c.5260C>A	p.Gln1754Lys	p.Q1754K	ENST00000368799	NM_002016.1	1754	Cag/Aag	0	not done		benign	
FLG		inserm.fr	GRCh37	1	152282141	152282141	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM257T									Valid												ENST00000368799.1:c.5221G>A	p.Gly1741Arg	p.G1741R	ENST00000368799	NM_002016.1	1741	Ggg/Agg	0	validated		possiblydamaging	
FLG		inserm.fr	GRCh37	1	152284824	152284824	+	synonymous_variant	Silent	SNP	C	T	T			CHC2141T																					ENST00000368799.1:c.2538G>A	p.Gly846=	p.G846=	ENST00000368799	NM_002016.1	846	ggG/ggA	0	not done		synonymous	
FLG		inserm.fr	GRCh37	1	152286387	152286387	+	synonymous_variant	Silent	SNP	C	T	T			CHC902T																					ENST00000368799.1:c.975G>A	p.Ala325=	p.A325=	ENST00000368799	NM_002016.1	325	gcG/gcA	0	not done		synonymous	
FLG2		inserm.fr	GRCh37	1	152324101	152324101	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000388718.5:c.6161C>A	p.Ala2054Asp	p.A2054D	ENST00000388718	NM_001014342.2	2054	gCc/gAc	0	not done		probablydamaging	
FLG2		inserm.fr	GRCh37	1	152324775	152324775	+	synonymous_variant	Silent	SNP	A	T	T			CHC2127T																					ENST00000388718.5:c.5487T>A	p.Ala1829=	p.A1829=	ENST00000388718	NM_001014342.2	1829	gcT/gcA	0	not done		synonymous	
NEB		inserm.fr	GRCh37	2	152374919	152374919	+	synonymous_variant	Silent	SNP	C	T	T			CHC703T																					ENST00000397345.3:c.22713G>A	p.Lys7571=	p.K7571=	ENST00000397345	NM_001164508.1	7571	aaG/aaA	0	not done		synonymous	
CRNN		inserm.fr	GRCh37	1	152382676	152382676	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1603T																					ENST00000271835.3:c.882C>A	p.His294Gln	p.H294Q	ENST00000271835	NM_016190.2	294	caC/caA	0	not done		benign	
NEB		inserm.fr	GRCh37	2	152534527	152534527	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1594T																					ENST00000397345.3:c.3430T>A	p.Phe1144Ile	p.F1144I	ENST00000397345	NM_001164508.1	1144	Ttc/Atc	0	not done		benign	
ACTR3B		inserm.fr	GRCh37	7	152551607	152551607	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC902T																					ENST00000256001.8:c.1226G>T	p.Arg409Leu	p.R409L	ENST00000256001	NM_020445.5	409	cGc/cTc	0	not done		probablydamaging	
SYNE1		inserm.fr	GRCh37	6	152557342	152557342	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000367255.5:c.20296G>A	p.Glu6766Lys	p.E6766K	ENST00000367255	NM_182961.3	6766	Gaa/Aaa	0	not done		probablydamaging	
LCE3C		inserm.fr	GRCh37	1	152573344	152573344	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000333881.3:c.137C>T	p.Pro46Leu	p.P46L	ENST00000333881	NM_178434.2	46	cCc/cTc	0	not done		benign	
SYNE1		inserm.fr	GRCh37	6	152577852	152577852	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000367255.5:c.19021G>A	p.Gly6341Arg	p.G6341R	ENST00000367255	NM_182961.3	6341	Ggg/Agg	0	not done		possiblydamaging	
ZNF275		inserm.fr	GRCh37	X	152612542	152612542	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000370251.3:c.399C>T	p.Asp133=	p.D133=	ENST00000370251	NM_001080485.3	133	gaC/gaT	0	not done		synonymous	
SYNE1		inserm.fr	GRCh37	6	152614834	152614834	+	synonymous_variant	Silent	SNP	C	T	T			CHC1205T																					ENST00000367255.5:c.17901G>A	p.Lys5967=	p.K5967=	ENST00000367255	NM_182961.3	5967	aaG/aaA	0	not done		synonymous	
LCE2D		inserm.fr	GRCh37	1	152636849	152636849	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC891T																					ENST00000368784.1:c.268G>T	p.Asp90Tyr	p.D90Y	ENST00000368784	NM_178430.3	90	Gat/Tat	0	not done		probablydamaging	
PET112		inserm.fr	GRCh37	4	152638163	152638163	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000263985.6:c.505G>A	p.Val169Ile	p.V169I	ENST00000263985	NM_004564.2	169	Gtc/Atc	0	not done		benign	
RERG		inserm.fr	GRCh37	12	15264331	15264331	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000256953.2:c.139G>A	p.Ala47Thr	p.A47T	ENST00000256953	NM_032918.2	47	Gca/Aca	0	not done		benign	
SYNE1		inserm.fr	GRCh37	6	152668370	152668370	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000367255.5:c.11902G>A	p.Ala3968Thr	p.A3968T	ENST00000367255	NM_182961.3	3968	Gca/Aca	0	not done		probablydamaging	
LCE2A		inserm.fr	GRCh37	1	152671588	152671588	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB307T									Valid												ENST00000368779.1:c.211C>T	p.His71Tyr	p.H71Y	ENST00000368779	NM_178428.3	71	Cac/Tac	0	validated		possiblydamaging	
C1orf68		inserm.fr	GRCh37	1	152692521	152692521	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000368775.2:c.524C>T	p.Pro175Leu	p.P175L	ENST00000368775	NM_001024679.2	175	cCc/cTc	0	not done		probablydamaging	
CACNB4		inserm.fr	GRCh37	2	152711869	152711869	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1775T																					ENST00000539935.1:c.889G>A	p.Glu297Lys	p.E297K	ENST00000539935	NM_001145798.1	297	Gaa/Aaa	0	validated		probablydamaging	
HAUS7		inserm.fr	GRCh37	X	152722046	152722046	+	synonymous_variant	Silent	SNP	A	T	T			BCM375T																					ENST00000370211.4:c.540T>A	p.Ser180=	p.S180=	ENST00000370211	NM_017518.7	180	tcT/tcA	0	validated		synonymous	
KPRP		inserm.fr	GRCh37	1	152732822	152732822	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000368773.1:c.758G>T	p.Ser253Ile	p.S253I	ENST00000368773	NM_001025231.1	253	aGc/aTc	0	not done		possiblydamaging	
SYNE1		inserm.fr	GRCh37	6	152734648	152734648	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000367255.5:c.6069G>A	p.Gln2023=	p.Q2023=	ENST00000367255	NM_182961.3	2023	caG/caA	0	not done		synonymous	
LCE1F		inserm.fr	GRCh37	1	152749019	152749019	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC433T																					ENST00000334371.2:c.172G>T	p.Gly58Cys	p.G58C	ENST00000334371	NM_178354.2	58	Ggc/Tgc	0	validated		probablydamaging	
SYNE1		inserm.fr	GRCh37	6	152749359	152749359	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM791T																					ENST00000367255.5:c.4957C>A	p.Leu1653Met	p.L1653M	ENST00000367255	NM_182961.3	1653	Ctg/Atg	0	validated		probablydamaging	
SYNE1		inserm.fr	GRCh37	6	152763243	152763243	+	synonymous_variant	Silent	SNP	C	T	T			CHC879T																					ENST00000367255.5:c.3975G>A	p.Glu1325=	p.E1325=	ENST00000367255	NM_182961.3	1325	gaG/gaA	0	not done		synonymous	
SYNE1		inserm.fr	GRCh37	6	152772238	152772238	+	synonymous_variant	Silent	SNP	G	T	T			CHC1744T																					ENST00000367255.5:c.3130C>A	p.Arg1044=	p.R1044=	ENST00000367255	NM_182961.3	1044	Cga/Aga	0	not done		synonymous	
SYNE1		inserm.fr	GRCh37	6	152774790	152774790	+	synonymous_variant	Silent	SNP	G	T	T			CHC121T																					ENST00000367255.5:c.2958C>A	p.Thr986=	p.T986=	ENST00000367255	NM_182961.3	986	acC/acA	0	validated		synonymous	
LCE1C		inserm.fr	GRCh37	1	152777711	152777711	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM683T																					ENST00000368768.1:c.244C>A	p.Arg82Ser	p.R82S	ENST00000368768	NM_178351.3	82	Cgc/Agc	0	validated		benign	
SYNE1		inserm.fr	GRCh37	6	152780031	152780031	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2208T																					ENST00000367255.5:c.2429C>A	p.Ser810Tyr	p.S810Y	ENST00000367255	NM_182961.3	810	tCt/tAt	0	not done		possiblydamaging	
LCE1A		inserm.fr	GRCh37	1	152799978	152799978	+	synonymous_variant	Silent	SNP	C	T	T			CHC1704T																					ENST00000335123.2:c.30C>T	p.Cys10=	p.C10=	ENST00000335123	NM_178348.2	10	tgC/tgT	0	not done		synonymous	
NOTCH3		inserm.fr	GRCh37	19	15280969	15280969	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000263388.2:c.5127G>A	p.Lys1709=	p.K1709=	ENST00000263388	NM_000435.2	1709	aaG/aaA	0	not done		synonymous	
CACNB4		inserm.fr	GRCh37	2	152830202	152830202	+	intron_variant	Intron	SNP	C	T	T			CHC884T																					ENST00000539935.1:c.148-90318G>A		*50*	ENST00000539935	NM_001145798.1			0	validated			
KAZN		inserm.fr	GRCh37	1	15287224	15287224	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000376030.2:c.271C>T	p.Leu91Phe	p.L91F	ENST00000376030	NM_201628.2	91	Ctt/Ttt	0	not done		probablydamaging	
IVL		inserm.fr	GRCh37	1	152883924	152883924	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000368764.3:c.1651C>T	p.Gln551Ter	p.Q551*	ENST00000368764		551	Cag/Tag	0	not done		damaging	
NOTCH3		inserm.fr	GRCh37	19	15288500	15288500	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000263388.2:c.4239C>A	p.Asp1413Glu	p.D1413E	ENST00000263388	NM_000435.2	1413	gaC/gaA	0	not done		probablydamaging	
NOTCH3		inserm.fr	GRCh37	19	15288549	15288549	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000263388.2:c.4190G>A	p.Gly1397Glu	p.G1397E	ENST00000263388	NM_000435.2	1397	gGg/gAg	0	not done		possiblydamaging	
NOTCH3		inserm.fr	GRCh37	19	15291534	15291534	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000263388.2:c.3100G>A	p.Asp1034Asn	p.D1034N	ENST00000263388	NM_000435.2	1034	Gac/Aac	0	not done		probablydamaging	
PNCK		inserm.fr	GRCh37	X	152936581	152936581	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000447676.2:c.928G>A	p.Ala310Thr	p.A310T	ENST00000447676		310	Gcc/Acc	0	not done		probablydamaging	
PNCK		inserm.fr	GRCh37	X	152937045	152937045	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC258T																					ENST00000447676.2:c.746G>A	p.Gly249Glu	p.G249E	ENST00000447676		249	gGg/gAg	0	validated		probablydamaging	
SPRR1A		inserm.fr	GRCh37	1	152957865	152957865	+	synonymous_variant	Silent	SNP	G	T	T			BCM337T																					ENST00000307122.2:c.159G>T	p.Val53=	p.V53=	ENST00000307122	NM_001199828.1	53	gtG/gtT	0	validated		synonymous	
SPRR3		inserm.fr	GRCh37	1	152975537	152975537	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000331860.3:c.41C>T	p.Pro14Leu	p.P14L	ENST00000331860	NM_005416.2	14	cCt/cTt	0	not done		probablydamaging	
NOTCH3		inserm.fr	GRCh37	19	15302568	15302568	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1052T									Valid												ENST00000263388.2:c.790C>A	p.Pro264Thr	p.P264T	ENST00000263388	NM_000435.2	264	Cct/Act	0	validated		probablydamaging	
PLXNB3		inserm.fr	GRCh37	X	153033308	153033308	+	synonymous_variant	Silent	SNP	C	T	T			CHC1744T																					ENST00000538966.1:c.1095C>T	p.Ser365=	p.S365=	ENST00000538966	NM_001163257.1	365	agC/agT	0	not done		synonymous	
PLXNB3		inserm.fr	GRCh37	X	153036328	153036328	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM545T																					ENST00000538966.1:c.2195A>T	p.Gln732Leu	p.Q732L	ENST00000538966	NM_001163257.1	732	cAa/cTa	0	validated		benign	
PLXNB3		inserm.fr	GRCh37	X	153039680	153039680	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000538966.1:c.3628C>T	p.Arg1210Cys	p.R1210C	ENST00000538966	NM_001163257.1	1210	Cgc/Tgc	0	not done		probablydamaging	
PLXNB3		inserm.fr	GRCh37	X	153039948	153039948	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000538966.1:c.3821C>T	p.Pro1274Leu	p.P1274L	ENST00000538966	NM_001163257.1	1274	cCc/cTc	0	not done		probablydamaging	
MYCT1		inserm.fr	GRCh37	6	153043106	153043106	+	synonymous_variant	Silent	SNP	C	T	T			CHC1010T																					ENST00000367245.5:c.426C>T	p.Leu142=	p.L142=	ENST00000367245	NM_025107.2	142	ctC/ctT	0	not done		synonymous	
SRPK3		inserm.fr	GRCh37	X	153045901	153045901	+	upstream_gene_variant	5'Flank	SNP	C	T	T			CHC892T																								ENST00000370101	NM_001170760.1			0	not done			
VIP		inserm.fr	GRCh37	6	153075388	153075388	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1708T																					ENST00000367244.3:c.195A>T	p.Leu65Phe	p.L65F	ENST00000367244	NM_003381.3	65	ttA/ttT	0	not done		probablydamaging	
SH3BP5		inserm.fr	GRCh37	3	15311313	15311313	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000383791.3:c.402G>A	p.Glu134=	p.E134=	ENST00000383791	NM_004844.4	134	gaG/gaA	0	not done		synonymous	
L1CAM		inserm.fr	GRCh37	X	153132262	153132262	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370060.1:c.2273G>A	p.Gly758Glu	p.G758E	ENST00000370060	NM_001278116.1	758	gGg/gAg	0	not done		benign	
L1CAM		inserm.fr	GRCh37	X	153132283	153132283	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1201T																					ENST00000370060.1:c.2252G>A	p.Arg751His	p.R751H	ENST00000370060	NM_001278116.1	751	cGc/cAc	0	not done		probablydamaging	
GRIA1		inserm.fr	GRCh37	5	153144077	153144077	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000518783.1:c.1937C>T	p.Ala646Val	p.A646V	ENST00000518783	NM_001258021.1	646	gCc/gTc	0	not done		probablydamaging	
NBAS		inserm.fr	GRCh37	2	15319165	15319165	+	synonymous_variant	Silent	SNP	G	T	T			CHC1028T																					ENST00000281513.5:c.6787C>A	p.Arg2263=	p.R2263=	ENST00000281513	NM_015909.3	2263	Cga/Aga	0	not done		synonymous	
RENBP		inserm.fr	GRCh37	X	153206974	153206974	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000393700.3:c.902G>A	p.Gly301Asp	p.G301D	ENST00000393700	NM_002910.5	301	gGc/gAc	0	not done		probablydamaging	
HCFC1		inserm.fr	GRCh37	X	153219941	153219941	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000310441.7:c.3909C>A	p.Asn1303Lys	p.N1303K	ENST00000310441	NM_005334.2	1303	aaC/aaA	0	not done		benign	
HCFC1		inserm.fr	GRCh37	X	153221687	153221687	+	synonymous_variant	Silent	SNP	C	T	T			CHC2141T																					ENST00000310441.7:c.2811G>A	p.Thr937=	p.T937=	ENST00000310441	NM_005334.2	937	acG/acA	0	not done		synonymous	
HCFC1		inserm.fr	GRCh37	X	153222772	153222772	+	synonymous_variant	Silent	SNP	G	T	T			CHC892T																					ENST00000310441.7:c.2346C>A	p.Gly782=	p.G782=	ENST00000310441	NM_005334.2	782	ggC/ggA	0	not done		synonymous	
LOR		inserm.fr	GRCh37	1	153233506	153233506	+	synonymous_variant	Silent	SNP	C	T	T			CHC2141T																					ENST00000368742.3:c.81C>T	p.Gly27=	p.G27=	ENST00000368742	NM_000427.2	27	ggC/ggT	0	validated		synonymous	
LOR		inserm.fr	GRCh37	1	153233506	153233506	+	synonymous_variant	Silent	SNP	C	T	T			BCM695T																					ENST00000368742.3:c.81C>T	p.Gly27=	p.G27=	ENST00000368742	NM_000427.2	27	ggC/ggT	0	validated		synonymous	
LOR		inserm.fr	GRCh37	1	153233863	153233863	+	synonymous_variant	Silent	SNP	C	T	T			BCM735T																					ENST00000368742.3:c.438C>T	p.Ser146=	p.S146=	ENST00000368742	NM_000427.2	146	tcC/tcT	0	validated		synonymous	
IRAK1		inserm.fr	GRCh37	X	153277340	153277340	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000369980.3:c.2109G>A	p.Gly703=	p.G703=	ENST00000369980	NM_001569.3	703	ggG/ggA	0	not done		synonymous	
PGLYRP3		inserm.fr	GRCh37	1	153279688	153279688	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000290722.1:c.111G>A	p.Arg37=	p.R37=	ENST00000290722	NM_052891.1	37	agG/agA	0	not done		synonymous	
MECP2		inserm.fr	GRCh37	X	153295917	153295917	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000453960.2:c.1398G>A	p.Gly466=	p.G466=	ENST00000453960	NM_001110792.1	466	ggG/ggA	0	not done		synonymous	
PGLYRP4		inserm.fr	GRCh37	1	153315593	153315593	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000359650.5:c.445G>A	p.Gly149Ser	p.G149S	ENST00000359650	NM_020393.2	149	Ggc/Agc	0	not done		possiblydamaging	
FMNL2		inserm.fr	GRCh37	2	153435429	153435429	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC301T									Valid												ENST00000288670.9:c.733C>T	p.Pro245Ser	p.P245S	ENST00000288670	NM_052905.3	245	Cca/Tca	0	validated		possiblydamaging	
S100A5		inserm.fr	GRCh37	1	153512641	153512641	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000368718.1:c.27G>A	p.Leu9=	p.L9=	ENST00000368718	NM_002962.1	9	ctG/ctA	0	not done		synonymous	
TKTL1		inserm.fr	GRCh37	X	153533660	153533660	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000369915.3:c.139C>T	p.Pro47Ser	p.P47S	ENST00000369915	NM_012253.3	47	Cct/Tct	0	not done		probablydamaging	
TKTL1		inserm.fr	GRCh37	X	153541024	153541024	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC205T																					ENST00000369915.3:c.764G>T	p.Ser255Ile	p.S255I	ENST00000369915	NM_012253.3	255	aGc/aTc	0	validated		benign	
FLNA		inserm.fr	GRCh37	X	153590824	153590824	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000369850.3:c.2527G>A	p.Ala843Thr	p.A843T	ENST00000369850	NM_001110556.1	843	Gct/Act	0	not done		possiblydamaging	
FLNA		inserm.fr	GRCh37	X	153599316	153599316	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1719T																					ENST00000369850.3:c.298C>A	p.Arg100Ser	p.R100S	ENST00000369850	NM_001110556.1	100	Cgc/Agc	0	not done		possiblydamaging	
EMD		inserm.fr	GRCh37	X	153609115	153609115	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	T	T			CHC794T																					ENST00000369842.4:c.402G>T	p.Val134=	p.V134=	ENST00000369842	NM_000117.2	134	gtG/gtT	0	validated		synonymous	
ILF2		inserm.fr	GRCh37	1	153642348	153642348	+	synonymous_variant	Silent	SNP	C	T	T			CHC307T																					ENST00000361891.4:c.72G>A	p.Arg24=	p.R24=	ENST00000361891	NM_001267809.1	24	agG/agA	0	validated		synonymous	
ILF2		inserm.fr	GRCh37	1	153642349	153642349	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC307T																					ENST00000361891.4:c.71G>A	p.Arg24Lys	p.R24K	ENST00000361891	NM_001267809.1	24	aGg/aAg	0	validated		possiblydamaging	
ILF2		inserm.fr	GRCh37	1	153642646	153642646	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000361891.4:c.65+1G>A		p.X22_splice	ENST00000361891	NM_001267809.1			0	not done		damaging	
NPR1		inserm.fr	GRCh37	1	153651680	153651680	+	synonymous_variant	Silent	SNP	G	T	T			CHC303T																					ENST00000368680.3:c.96G>T	p.Ala32=	p.A32=	ENST00000368680	NM_000906.3	32	gcG/gcT	0	validated		synonymous	
NPR1		inserm.fr	GRCh37	1	153665603	153665603	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC097T																					ENST00000368680.3:c.3053C>T	p.Ser1018Phe	p.S1018F	ENST00000368680	NM_000906.3	1018	tCt/tTt	0	not done		possiblydamaging	
BRD4		inserm.fr	GRCh37	19	15366918	15366918	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM371T																					ENST00000263377.2:c.1708C>A	p.Pro570Thr	p.P570T	ENST00000263377	NM_058243.2	570	Cct/Act	0	validated		probablydamaging	
FAM50A		inserm.fr	GRCh37	X	153677044	153677044	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM683T																					ENST00000393600.3:c.526G>T	p.Glu176Ter	p.E176*	ENST00000393600	NM_004699.3	176	Gag/Tag	0	validated		damaging	
PLXNA3		inserm.fr	GRCh37	X	153689059	153689059	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000369682.3:c.536C>T	p.Pro179Leu	p.P179L	ENST00000369682	NM_017514.3	179	cCc/cTc	0	not done		probablydamaging	
PLXNA3		inserm.fr	GRCh37	X	153692373	153692373	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC469T									Valid												ENST00000369682.3:c.1627C>T	p.Arg543Trp	p.R543W	ENST00000369682	NM_017514.3	543	Cgg/Tgg	0	validated		possiblydamaging	
PLXNA3		inserm.fr	GRCh37	X	153695461	153695461	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000369682.3:c.3169C>T	p.Arg1057Cys	p.R1057C	ENST00000369682	NM_017514.3	1057	Cgt/Tgt	0	not done		probablydamaging	
SLC10A3		inserm.fr	GRCh37	X	153715995	153715995	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1040T																					ENST00000263512.4:c.1285G>A	p.Ala429Thr	p.A429T	ENST00000263512	NM_019848.3	429	Gcc/Acc	0	not done		probablydamaging	
INTS3		inserm.fr	GRCh37	1	153745142	153745142	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2362T																					ENST00000318967.2:c.2849C>T	p.Ala950Val	p.A950V	ENST00000318967	NM_023015.3	950	gCg/gTg	0	validated		probablydamaging	
PTX4		inserm.fr	GRCh37	16	1537888	1537888	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000293922.1:c.210G>A	p.Arg70=	p.R70=	ENST00000293922	NM_001013658.1	70	cgG/cgA	0	not done		synonymous	
ARHGEF26		inserm.fr	GRCh37	3	153840671	153840671	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC451T																					ENST00000356448.4:c.890A>T	p.Glu297Val	p.E297V	ENST00000356448	NM_001251962.1	297	gAg/gTg	0	validated		benign	
HAND1		inserm.fr	GRCh37	5	153857094	153857094	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1602T																					ENST00000231121.2:c.475C>A	p.Pro159Thr	p.P159T	ENST00000231121	NM_004821.2	159	Ccc/Acc	0	not done		benign	
KAZN		inserm.fr	GRCh37	1	15390079	15390079	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000376030.2:c.1059C>T	p.Pro353=	p.P353=	ENST00000376030	NM_201628.2	353	ccC/ccT	0	validated		synonymous	
DENND4B		inserm.fr	GRCh37	1	153914516	153914516	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2200T																					ENST00000361217.4:c.884T>A	p.Leu295Gln	p.L295Q	ENST00000361217	NM_014856.2	295	cTg/cAg	0	not done		probablydamaging	
GAB3		inserm.fr	GRCh37	X	153924228	153924228	+	synonymous_variant	Silent	SNP	A	T	T			CHC798T																					ENST00000424127.2:c.1494T>A	p.Pro498=	p.P498=	ENST00000424127		498	ccT/ccA	0	validated		synonymous	
GAB3		inserm.fr	GRCh37	X	153924290	153924290	+	synonymous_variant	Silent	SNP	G	T	T			CHC465T																					ENST00000424127.2:c.1432C>A	p.Arg478=	p.R478=	ENST00000424127		478	Cga/Aga	0	validated		synonymous	
CRTC2		inserm.fr	GRCh37	1	153925788	153925788	+	synonymous_variant	Silent	SNP	G	T	T			CHC2200T																					ENST00000368633.1:c.561C>A	p.Thr187=	p.T187=	ENST00000368633	NM_181715.2	187	acC/acA	0	validated		synonymous	
GAB3		inserm.fr	GRCh37	X	153941630	153941630	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM439T																					ENST00000424127.2:c.448G>A	p.Ala150Thr	p.A150T	ENST00000424127		150	Gcc/Acc	0	validated		benign	
RAB13		inserm.fr	GRCh37	1	153955046	153955046	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000368575.3:c.445G>A	p.Glu149Lys	p.E149K	ENST00000368575	NM_002870.3	149	Gaa/Aaa	0	validated		probablydamaging	
NUP210L		inserm.fr	GRCh37	1	154127433	154127433	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000368559.3:c.88G>A	p.Val30Ile	p.V30I	ENST00000368559	NM_207308.2	30	Gtt/Att	0	not done		benign	
F8		inserm.fr	GRCh37	X	154133236	154133236	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000360256.4:c.5436G>A	p.Glu1812=	p.E1812=	ENST00000360256	NM_000132.3	1812	gaG/gaA	0	not done		synonymous	
GPR149		inserm.fr	GRCh37	3	154146524	154146524	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000389740.2:c.881G>A	p.Gly294Glu	p.G294E	ENST00000389740	NM_001038705.1	294	gGg/gAg	0	not done		possiblydamaging	
F8		inserm.fr	GRCh37	X	154176066	154176066	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1209T																					ENST00000360256.4:c.2020G>A	p.Gly674Arg	p.G674R	ENST00000360256	NM_000132.3	674	Gga/Aga	0	not done		probablydamaging	
F8		inserm.fr	GRCh37	X	154194800	154194800	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000360256.4:c.1172G>A	p.Arg391His	p.R391H	ENST00000360256	NM_000132.3	391	cGc/cAc	0	validated		probablydamaging	
FUNDC2		inserm.fr	GRCh37	X	154255276	154255276	+	synonymous_variant	Silent	SNP	G	T	T			BCB167T																					ENST00000369498.3:c.63G>T	p.Ala21=	p.A21=	ENST00000369498	NM_023934.3	21	gcG/gcT	0	validated		synonymous	
IL6R		inserm.fr	GRCh37	1	154403035	154403035	+	synonymous_variant	Silent	SNP	G	T	T			CHC1743T																					ENST00000368485.3:c.411G>T	p.Arg137=	p.R137=	ENST00000368485	NM_000565.3	137	cgG/cgT	0	not done		synonymous	
IL6R		inserm.fr	GRCh37	1	154407003	154407003	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM695T																					ENST00000368485.3:c.467G>T	p.Ser156Ile	p.S156I	ENST00000368485	NM_000565.3	156	aGt/aTt	0	validated		possiblydamaging	
OPRM1		inserm.fr	GRCh37	6	154439842	154439842	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC121T																					ENST00000434900.2:c.1468G>T	p.Ala490Ser	p.A490S	ENST00000434900	NM_001145279.2	490	Gct/Tct	0	validated		benign	
TPO		inserm.fr	GRCh37	2	1544421	1544421	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1720T																					ENST00000345913.4:c.2674C>T	p.Pro892Ser	p.P892S	ENST00000345913	NM_000547.5	892	Ccc/Tcc	0	not done		benign	
TPO		inserm.fr	GRCh37	2	1544436	1544436	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM735T																					ENST00000345913.4:c.2689G>T	p.Gly897Ter	p.G897*	ENST00000345913	NM_000547.5	897	Gga/Tga	0	validated		damaging	
VBP1		inserm.fr	GRCh37	X	154444764	154444764	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2052T																					ENST00000286428.5:c.5C>T	p.Ala2Val	p.A2V	ENST00000286428	NM_003372.5	2	gCg/gTg	0	not done		probablydamaging	
SNAPC3		inserm.fr	GRCh37	9	15444660	15444660	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2141T																					ENST00000380821.3:c.538C>T	p.Leu180Phe	p.L180F	ENST00000380821	NM_001039697.1	180	Ctt/Ttt	0	not done		possiblydamaging	
SHE		inserm.fr	GRCh37	1	154461570	154461570	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000304760.2:c.981G>A	p.Gln327=	p.Q327=	ENST00000304760	NM_001010846.2	327	caG/caA	0	not done		synonymous	
KIAA0922		inserm.fr	GRCh37	4	154512233	154512233	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM703T																					ENST00000409959.3:c.1699G>T	p.Ala567Ser	p.A567S	ENST00000409959	NM_001131007.1	567	Gct/Tct	0	validated		benign	
TDRD10		inserm.fr	GRCh37	1	154517326	154517326	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC879T																					ENST00000368480.3:c.853G>T	p.Gly285Ter	p.G285*	ENST00000368480		285	Gga/Tga	0	not done		damaging	
IPCEF1		inserm.fr	GRCh37	6	154520846	154520846	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM257T									Valid												ENST00000422970.2:c.866T>A	p.Leu289His	p.L289H	ENST00000422970	NM_001130699.1	289	cTt/cAt	0	validated		probablydamaging	
SNAPC3		inserm.fr	GRCh37	9	15453184	15453184	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC361TA									Valid												ENST00000380821.3:c.961A>T	p.Ile321Phe	p.I321F	ENST00000380821	NM_001039697.1	321	Att/Ttt	0	validated		possiblydamaging	
TELO2		inserm.fr	GRCh37	16	1545435	1545435	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1744T																					ENST00000262319.6:c.424C>T	p.Arg142Trp	p.R142W	ENST00000262319	NM_016111.3	142	Cgg/Tgg	0	not done		benign	
CHRNB2		inserm.fr	GRCh37	1	154544294	154544294	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB111T									Valid												ENST00000368476.3:c.995C>T	p.Ala332Val	p.A332V	ENST00000368476	NM_000748.2	332	gCg/gTg	0	validated		probablydamaging	
DPP6		inserm.fr	GRCh37	7	154679441	154679441	+	synonymous_variant	Silent	SNP	C	T	T			CHC912T																					ENST00000377770.3:c.2301C>T	p.Tyr767=	p.Y767=	ENST00000377770		767	taC/taT	0	validated		synonymous	
RNF175		inserm.fr	GRCh37	4	154680972	154680972	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1725T																					ENST00000347063.4:c.43G>A	p.Glu15Lys	p.E15K	ENST00000347063	NM_173662.2	15	Gag/Aag	0	validated		benign	
DPP6		inserm.fr	GRCh37	7	154684049	154684049	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000377770.3:c.2457C>T	p.Tyr819=	p.Y819=	ENST00000377770		819	taC/taT	0	not done		synonymous	
SCARF1		inserm.fr	GRCh37	17	1547025	1547025	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000263071.4:c.502G>A	p.Ala168Thr	p.A168T	ENST00000263071	NM_145350.2	168	Gcg/Acg	0	not done		possiblydamaging	
HTR5A		inserm.fr	GRCh37	7	154862693	154862693	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000287907.2:c.84C>T	p.Asp28=	p.D28=	ENST00000287907	NM_024012.3	28	gaC/gaT	0	not done		synonymous	
HTR5A		inserm.fr	GRCh37	7	154875949	154875949	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000287907.2:c.826C>T	p.Arg276Trp	p.R276W	ENST00000287907	NM_024012.3	276	Cgg/Tgg	0	not done		probablydamaging	
SHC1		inserm.fr	GRCh37	1	154942873	154942873	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2098T																					ENST00000448116.2:c.130C>A	p.Pro44Thr	p.P44T	ENST00000448116	NM_001130040.1	44	Ccc/Acc	0	not done		probablydamaging	
FBXW10B		inserm.fr	GRCh37	17	15498197	15498197	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000395906.3:c.1712G>A	p.Ser571Asn	p.S571N	ENST00000395906	NM_006382.3	571	aGt/aAt	0	not done		benign	
INSIG1		inserm.fr	GRCh37	7	155093314	155093314	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1742T																					ENST00000340368.4:c.451C>T	p.Leu151Phe	p.L151F	ENST00000340368	NM_005542.4	151	Ctc/Ttc	0	not done		probablydamaging	
AKAP8L		inserm.fr	GRCh37	19	15511646	15511646	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000397410.5:c.943G>A	p.Gly315Ser	p.G315S	ENST00000397410	NM_014371.2	315	Ggc/Agc	0	not done		benign	
AKAP8L		inserm.fr	GRCh37	19	15512392	15512392	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000397410.5:c.385G>A	p.Asp129Asn	p.D129N	ENST00000397410	NM_014371.2	129	Gac/Aac	0	not done		benign	
DCHS2		inserm.fr	GRCh37	4	155157203	155157203	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000357232.4:c.7236G>A	p.Trp2412Ter	p.W2412*	ENST00000357232	NM_017639.3	2412	tgG/tgA	0	not done		damaging	
THBS3		inserm.fr	GRCh37	1	155171345	155171345	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000368378.3:c.1192G>A	p.Gly398Ser	p.G398S	ENST00000368378	NM_007112.4	398	Ggt/Agt	0	not done		probablydamaging	
SIRPB1		inserm.fr	GRCh37	20	1551715	1551715	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1148T																					ENST00000381605.4:c.820G>A	p.Val274Met	p.V274M	ENST00000381605	NM_006065.3	274	Gtg/Atg	0	not done		probablydamaging	
DCHS2		inserm.fr	GRCh37	4	155219097	155219097	+	synonymous_variant	Silent	SNP	C	T	T			CHC1743T																					ENST00000357232.4:c.5004G>A	p.Thr1668=	p.T1668=	ENST00000357232	NM_017639.3	1668	acG/acA	0	not done		synonymous	
CLK2		inserm.fr	GRCh37	1	155233192	155233192	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000361168.5:c.1315-1G>A		p.X439_splice	ENST00000361168				0	not done		damaging	
CLK2		inserm.fr	GRCh37	1	155234507	155234507	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC432T																					ENST00000361168.5:c.989C>A	p.Ala330Asp	p.A330D	ENST00000361168		330	gCc/gAc	0	not done		probablydamaging	
HCN3		inserm.fr	GRCh37	1	155247408	155247408	+	synonymous_variant	Silent	SNP	G	T	T			CHC2213T																					ENST00000368358.3:c.27G>T	p.Ala9=	p.A9=	ENST00000368358	NM_020897.2	9	gcG/gcT	0	validated		synonymous	
DCHS2		inserm.fr	GRCh37	4	155250832	155250832	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC155T																					ENST00000357232.4:c.2396G>A	p.Arg799His	p.R799H	ENST00000357232	NM_017639.3	799	cGt/cAt	0	validated		benign	
EN2		inserm.fr	GRCh37	7	155251745	155251745	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1611T																					ENST00000297375.4:c.673C>T	p.Arg225Trp	p.R225W	ENST00000297375	NM_001427.3	225	Cgg/Tgg	0	not done		probablydamaging	
EN2		inserm.fr	GRCh37	7	155251758	155251758	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC1742T																					ENST00000297375.4:c.685+1G>T		p.X229_splice	ENST00000297375	NM_001427.3			0	not done		damaging	
FDPS		inserm.fr	GRCh37	1	155289659	155289659	+	synonymous_variant	Silent	SNP	C	T	T			CHC205T																					ENST00000356657.6:c.999C>T	p.Cys333=	p.C333=	ENST00000356657	NM_001135821.1	333	tgC/tgT	0	validated		synonymous	
RUSC1		inserm.fr	GRCh37	1	155296579	155296579	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC320T									Valid												ENST00000368352.5:c.2070G>T	p.Gln690His	p.Q690H	ENST00000368352	NM_001105203.1	690	caG/caT	0	validated		probablydamaging	
PLCH1		inserm.fr	GRCh37	3	155301408	155301408	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000340059.7:c.588G>A	p.Gln196=	p.Q196=	ENST00000340059	NM_001130960.1	196	caG/caA	0	not done		synonymous	
DCHS2		inserm.fr	GRCh37	4	155410957	155410957	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000339452.1:c.1551G>A	p.Pro517=	p.P517=	ENST00000339452	NM_001142552.1	517	ccG/ccA	0	validated		synonymous	
DCHS2		inserm.fr	GRCh37	4	155411277	155411277	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1595T																					ENST00000339452.1:c.1231C>A	p.Pro411Thr	p.P411T	ENST00000339452	NM_001142552.1	411	Cca/Aca	0	validated		probablydamaging	
TMEM51		inserm.fr	GRCh37	1	15541622	15541622	+	synonymous_variant	Silent	SNP	G	T	T			CHC1211T																					ENST00000428417.1:c.39G>T	p.Ala13=	p.A13=	ENST00000428417	NM_001136217.1	13	gcG/gcT	0	not done		synonymous	
ASH1L		inserm.fr	GRCh37	1	155429632	155429632	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000392403.3:c.5042G>A	p.Ser1681Asn	p.S1681N	ENST00000392403	NM_018489.2	1681	aGc/aAc	0	not done		probablydamaging	
ASH1L		inserm.fr	GRCh37	1	155447692	155447692	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000392403.3:c.4969G>A	p.Val1657Ile	p.V1657I	ENST00000392403	NM_018489.2	1657	Gta/Ata	0	not done		benign	
ASH1L		inserm.fr	GRCh37	1	155448608	155448608	+	synonymous_variant	Silent	SNP	C	T	T			CHC469T																					ENST00000392403.3:c.4053G>A	p.Gly1351=	p.G1351=	ENST00000392403	NM_018489.2	1351	ggG/ggA	0	validated		synonymous	
FGB		inserm.fr	GRCh37	4	155487770	155487770	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCM325T																					ENST00000302068.4:c.436C>T	p.Gln146Ter	p.Q146*	ENST00000302068	NM_005141.4	146	Cag/Tag	0	validated		damaging	
FGG		inserm.fr	GRCh37	4	155528065	155528065	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1201T																					ENST00000336098.3:c.921C>A	p.Phe307Leu	p.F307L	ENST00000336098	NM_021870.2	307	ttC/ttA	0	not done		possiblydamaging	
TRIM16		inserm.fr	GRCh37	17	15554853	15554853	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000455584.2:c.71G>A	p.Ser24Asn	p.S24N	ENST00000455584		24	aGc/aAc	0	not done		unknown	
NBAS		inserm.fr	GRCh37	2	15555816	15555816	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000281513.5:c.2791G>A	p.Ala931Thr	p.A931T	ENST00000281513	NM_015909.3	931	Gcc/Acc	0	not done		benign	
RBM33		inserm.fr	GRCh37	7	155559269	155559269	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000401878.3:c.3295G>T	p.Val1099Leu	p.V1099L	ENST00000401878	NM_053043.2	1099	Gtg/Ttg	0	not done		possiblydamaging	
WIZ		inserm.fr	GRCh37	19	15559099	15559099	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000263381.7:c.20G>A	p.Gly7Asp	p.G7D	ENST00000263381	NM_021241.2	7	gGc/gAc	0	not done		possiblydamaging	
SHH		inserm.fr	GRCh37	7	155599131	155599131	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC218T																					ENST00000297261.2:c.421T>A	p.Tyr141Asn	p.Y141N	ENST00000297261	NM_000193.2	141	Tac/Aac	0	validated		probablydamaging	
MEX3D		inserm.fr	GRCh37	19	1556166	1556166	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000402693.4:c.1352G>A	p.Cys451Tyr	p.C451Y	ENST00000402693	NM_203304.3	451	tGc/tAc	0	not done		possiblydamaging	
RASAL3		inserm.fr	GRCh37	19	15564074	15564074	+	synonymous_variant	Silent	SNP	G	T	T			CHC796T																					ENST00000343625.7:c.2514C>A	p.Pro838=	p.P838=	ENST00000343625	NM_022904.1	838	ccC/ccA	0	validated		synonymous	
RASAL3		inserm.fr	GRCh37	19	15568420	15568420	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000343625.7:c.1114G>A	p.Gly372Ser	p.G372S	ENST00000343625	NM_022904.1	372	Ggc/Agc	0	validated		benign	
RBM46		inserm.fr	GRCh37	4	155719113	155719113	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2215T																					ENST00000281722.3:c.302G>T	p.Arg101Leu	p.R101L	ENST00000281722	NM_144979.4	101	cGa/cTa	0	not done		probablydamaging	
GON4L		inserm.fr	GRCh37	1	155736290	155736290	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000437809.1:c.2974G>A	p.Ala992Thr	p.A992T	ENST00000437809		992	Gct/Act	0	not done		benign	
GON4L		inserm.fr	GRCh37	1	155755137	155755137	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000437809.1:c.1776G>A	p.Glu592=	p.E592=	ENST00000437809		592	gaG/gaA	0	not done		synonymous	
ACE2		inserm.fr	GRCh37	X	15582246	15582246	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2128T																					ENST00000427411.1:c.2210C>A	p.Pro737His	p.P737H	ENST00000427411	NM_021804.2	737	cCc/cAc	0	not done		probablydamaging	
KIAA0907		inserm.fr	GRCh37	1	155885673	155885673	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000368321.3:c.1636G>A	p.Gly546Arg	p.G546R	ENST00000368321	NM_014949.2	546	Ggg/Agg	0	not done		probablydamaging	
KIAA0907		inserm.fr	GRCh37	1	155904153	155904153	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000368321.3:c.12G>A	p.Gly4=	p.G4=	ENST00000368321	NM_014949.2	4	ggG/ggA	0	not done		synonymous	
ARHGAP28		inserm.fr	GRCh37	1	155954214	155954214	+	downstream_gene_variant	3'Flank	SNP	G	T	T			BCM543T																								ENST00000610146				0	validated		synonymous	
SSR2		inserm.fr	GRCh37	1	155981675	155981675	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1715T																					ENST00000295702.4:c.367G>A	p.Gly123Ser	p.G123S	ENST00000295702	NM_003145.3	123	Ggc/Agc	0	not done		possiblydamaging	
RBM11		inserm.fr	GRCh37	21	15599421	15599421	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1720T																					ENST00000400577.3:c.653A>T	p.His218Leu	p.H218L	ENST00000400577	NM_144770.3	218	cAt/cTt	0	not done		probablydamaging	
UBQLN4		inserm.fr	GRCh37	1	156013856	156013856	+	synonymous_variant	Silent	SNP	C	T	T			CHC1700T																					ENST00000368309.3:c.1059G>A	p.Ser353=	p.S353=	ENST00000368309	NM_020131.3	353	tcG/tcA	0	not done		synonymous	
UBQLN4		inserm.fr	GRCh37	1	156020960	156020960	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000368309.3:c.419G>A	p.Gly140Asp	p.G140D	ENST00000368309	NM_020131.3	140	gGt/gAt	0	validated		probablydamaging	
SEMA4A		inserm.fr	GRCh37	1	156130790	156130790	+	synonymous_variant	Silent	SNP	C	T	T			BCM567T																					ENST00000368285.3:c.780C>T	p.Leu260=	p.L260=	ENST00000368285	NM_001193300.1	260	ctC/ctT	0	validated		synonymous	
SEMA4A		inserm.fr	GRCh37	1	156146518	156146518	+	synonymous_variant	Silent	SNP	C	T	T			CHC1061T																					ENST00000368285.3:c.2016C>T	p.Ala672=	p.A672=	ENST00000368285	NM_001193300.1	672	gcC/gcT	0	validated		synonymous	
PMF1		inserm.fr	GRCh37	1	156206080	156206080	+	intron_variant	Intron	SNP	C	T	T			BCM723T																					ENST00000368276.4:c.369-60C>T		*123*	ENST00000368276	NM_001199661.1			0	validated		probablydamaging	
PAQR6		inserm.fr	GRCh37	1	156214128	156214128	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1545T																					ENST00000335852.1:c.580T>A	p.Trp194Arg	p.W194R	ENST00000335852	NM_024897.3	194	Tgg/Agg	0	not done		possiblydamaging	
PAQR6		inserm.fr	GRCh37	1	156215409	156215409	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1079T																					ENST00000335852.1:c.111G>A	p.Trp37Ter	p.W37*	ENST00000335852	NM_024897.3	37	tgG/tgA	0	not done		damaging	
KCNAB1		inserm.fr	GRCh37	3	156232944	156232944	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000490337.1:c.800C>T	p.Ala267Val	p.A267V	ENST00000490337	NM_172160.2	267	gCt/gTt	0	not done		possiblydamaging	
CCDC171		inserm.fr	GRCh37	9	15623329	15623329	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1594T																					ENST00000380701.3:c.740A>T	p.Asp247Val	p.D247V	ENST00000380701	NM_173550.2	247	gAc/gTc	0	not done		benign	
SSR3		inserm.fr	GRCh37	3	156272846	156272846	+	synonymous_variant	Silent	SNP	A	T	T			CHC1065T																					ENST00000265044.2:c.33T>A	p.Ser11=	p.S11=	ENST00000265044	NM_007107.3	11	tcT/tcA	0	validated		synonymous	
CCT3		inserm.fr	GRCh37	1	156281837	156281837	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM339T																					ENST00000295688.3:c.1150C>A	p.Leu384Ile	p.L384I	ENST00000295688	NM_005998.4	384	Ctc/Atc	0	validated		possiblydamaging	
MIB2		inserm.fr	GRCh37	1	1563210	1563210	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC1717T																					ENST00000505820.2:c.2025+1G>T		p.X675_splice	ENST00000505820				0	not done		possiblydamaging	
TIMD4		inserm.fr	GRCh37	5	156378763	156378763	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB111T																					ENST00000274532.2:c.439C>A	p.Arg147Ser	p.R147S	ENST00000274532	NM_138379.2	147	Cgc/Agc	0	validated		benign	
TIMD4		inserm.fr	GRCh37	5	156381720	156381720	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000274532.2:c.106G>A	p.Val36Met	p.V36M	ENST00000274532	NM_138379.2	36	Gtg/Atg	0	not done		probablydamaging	
FHAD1		inserm.fr	GRCh37	1	15642879	15642879	+	intron_variant	Intron	SNP	G	T	T			CHC1207T																					ENST00000375995.3:c.288+3196G>T		*96*	ENST00000375995				0	validated		synonymous	
IQGAP3		inserm.fr	GRCh37	1	156501023	156501023	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361170.2:c.4120G>A	p.Ala1374Thr	p.A1374T	ENST00000361170	NM_178229.4	1374	Gcc/Acc	0	not done		possiblydamaging	
IQGAP3		inserm.fr	GRCh37	1	156501033	156501033	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000361170.2:c.4110G>A	p.Lys1370=	p.K1370=	ENST00000361170	NM_178229.4	1370	aaG/aaA	0	not done		synonymous	
TTC24		inserm.fr	GRCh37	1	156555744	156555744	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000368236.3:c.1574C>T	p.Pro525Leu	p.P525L	ENST00000368236	NM_001105669.2	525	cCa/cTa	0	not done		benign	
TTC24		inserm.fr	GRCh37	1	156555756	156555756	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000368236.3:c.1586C>T	p.Ala529Val	p.A529V	ENST00000368236	NM_001105669.2	529	gCc/gTc	0	not done		benign	
PTPRO		inserm.fr	GRCh37	12	15656990	15656990	+	synonymous_variant	Silent	SNP	C	T	T			CHC1053T																					ENST00000281171.4:c.1254C>T	p.Leu418=	p.L418=	ENST00000281171	NM_030667.2	418	ctC/ctT	0	validated		synonymous	
GARIN3		inserm.fr	GRCh37	5	156592604	156592604	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1715T																					ENST00000302938.4:c.576C>A	p.Asp192Glu	p.D192E	ENST00000302938	NM_130899.2	192	gaC/gaA	0	not done		possiblydamaging	
HAPLN2		inserm.fr	GRCh37	1	156595086	156595086	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000255039.1:c.933C>T	p.Cys311=	p.C311=	ENST00000255039	NM_021817.2	311	tgC/tgT	0	not done		synonymous	
ITK		inserm.fr	GRCh37	5	156638356	156638356	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1055T																					ENST00000422843.3:c.302G>T	p.Arg101Leu	p.R101L	ENST00000422843	NM_005546.3	101	cGc/cTc	0	validated		possiblydamaging	
NES		inserm.fr	GRCh37	1	156640172	156640172	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC879T																					ENST00000368223.3:c.3808G>A	p.Glu1270Lys	p.E1270K	ENST00000368223	NM_006617.1	1270	Gag/Aag	0	not done		possiblydamaging	
NES		inserm.fr	GRCh37	1	156646417	156646417	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000368223.3:c.640G>A	p.Ala214Thr	p.A214T	ENST00000368223	NM_006617.1	214	Gcg/Acg	0	not done		probablydamaging	
NES		inserm.fr	GRCh37	1	156646895	156646895	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000368223.3:c.162G>A	p.Ala54=	p.A54=	ENST00000368223	NM_006617.1	54	gcG/gcA	0	not done		synonymous	
HDGF		inserm.fr	GRCh37	1	156714044	156714044	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2052T																					ENST00000368206.5:c.448G>A	p.Asp150Asn	p.D150N	ENST00000368206	NM_001126050.1	150	Gac/Aac	0	not done		probablydamaging	
GUCY1B3		inserm.fr	GRCh37	4	156721091	156721091	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1186T																					ENST00000264424.8:c.1040A>T	p.Asp347Val	p.D347V	ENST00000264424	NM_000857.2	347	gAt/gTt	0	not done		probablydamaging	
CYFIP2		inserm.fr	GRCh37	5	156723764	156723764	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1741T																					ENST00000521420.1:c.291G>T	p.Met97Ile	p.M97I	ENST00000521420		97	atG/atT	0	not done		benign	
CYFIP2		inserm.fr	GRCh37	5	156755010	156755010	+	synonymous_variant	Silent	SNP	C	T	T			BCM265T																					ENST00000521420.1:c.2031C>T	p.Tyr677=	p.Y677=	ENST00000521420		677	taC/taT	0	validated		synonymous	
ASIC5		inserm.fr	GRCh37	4	156764980	156764980	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000537611.2:c.714G>A	p.Glu238=	p.E238=	ENST00000537611	NM_017419.2	238	gaG/gaA	0	not done		synonymous	
INSRR		inserm.fr	GRCh37	1	156824033	156824033	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1180T																					ENST00000368195.3:c.148G>A	p.Val50Met	p.V50M	ENST00000368195	NM_014215.2	50	Gtg/Atg	0	validated		probablydamaging	
CCNL1		inserm.fr	GRCh37	3	156866144	156866144	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000295926.3:c.1467G>A	p.Arg489=	p.R489=	ENST00000295926	NM_020307.2	489	agG/agA	0	not done		synonymous	
PEAR1		inserm.fr	GRCh37	1	156876585	156876585	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000338302.3:c.557C>T	p.Ala186Val	p.A186V	ENST00000338302		186	gCc/gTc	0	not done		benign	
PEAR1		inserm.fr	GRCh37	1	156879657	156879657	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1774T																					ENST00000338302.3:c.1526G>T	p.Cys509Phe	p.C509F	ENST00000338302		509	tGt/tTt	0	validated		probablydamaging	
PEAR1		inserm.fr	GRCh37	1	156883284	156883284	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000338302.3:c.2613C>T	p.Arg871=	p.R871=	ENST00000338302		871	cgC/cgT	0	not done		synonymous	
NIPAL4		inserm.fr	GRCh37	5	156898674	156898674	+	synonymous_variant	Silent	SNP	C	T	T			CHC433T																					ENST00000311946.7:c.621C>T	p.Leu207=	p.L207=	ENST00000311946	NM_001099287.1	207	ctC/ctT	0	validated		synonymous	
LRRC71		inserm.fr	GRCh37	1	156899472	156899472	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000337428.7:c.1191C>T	p.Pro397=	p.P397=	ENST00000337428	NM_144702.2	397	ccC/ccT	0	not done		synonymous	
ARHGEF11		inserm.fr	GRCh37	1	156905839	156905839	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM397T																					ENST00000368194.3:c.4642C>A	p.Pro1548Thr	p.P1548T	ENST00000368194	NM_198236.2	1548	Ccc/Acc	0	validated		benign	
ADAM19		inserm.fr	GRCh37	5	156908853	156908853	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000257527.4:c.2649G>A	p.Arg883=	p.R883=	ENST00000257527	NM_033274.4	883	cgG/cgA	0	not done		synonymous	
UBE3C		inserm.fr	GRCh37	7	156979716	156979716	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC1598T																					ENST00000348165.5:c.1331+1G>T		p.X444_splice	ENST00000348165	NM_014671.2			0	not done		possiblydamaging	
ETV3L		inserm.fr	GRCh37	1	157067681	157067681	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2098T																					ENST00000454449.2:c.586G>A	p.Gly196Arg	p.G196R	ENST00000454449	NM_001004341.2	196	Ggg/Agg	0	not done		possiblydamaging	
SOX30		inserm.fr	GRCh37	5	157078693	157078693	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265007.6:c.394G>A	p.Ala132Thr	p.A132T	ENST00000265007	NM_178424.1	132	Gcg/Acg	0	not done		benign	
VEPH1		inserm.fr	GRCh37	3	157081271	157081271	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC961T									Valid												ENST00000362010.2:c.1617T>A	p.Ser539Arg	p.S539R	ENST00000362010	NM_001167912.1	539	agT/agA	0	validated		possiblydamaging	
ARID1B		inserm.fr	GRCh37	6	157099245	157099245	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM375T																					ENST00000346085.5:c.182C>T	p.Thr61Met	p.T61M	ENST00000346085	NM_020732.3	61	aCg/aTg	0	validated		probablydamaging	
C5orf52		inserm.fr	GRCh37	5	157106996	157106996	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000409999.3:c.469C>T	p.Pro157Ser	p.P157S	ENST00000409999	NM_001145132.1	157	Cca/Tca	0	not done		benign	
VEPH1		inserm.fr	GRCh37	3	157188199	157188199	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000362010.2:c.258G>A	p.Trp86Ter	p.W86*	ENST00000362010	NM_001167912.1	86	tgG/tgA	0	not done		damaging	
CLINT1		inserm.fr	GRCh37	5	157214800	157214800	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000523908.1:c.1786G>A	p.Gly596Ser	p.G596S	ENST00000523908		596	Ggc/Agc	0	not done		probablydamaging	
KIAA0430		inserm.fr	GRCh37	16	15724221	15724221	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1209T																					ENST00000396368.3:c.1492G>A	p.Asp498Asn	p.D498N	ENST00000396368	NM_001184998.1	498	Gac/Aac	0	not done		probablydamaging	
LOC100506557		inserm.fr	GRCh37	7	157318883	157318883	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1545T																					ENST00000444154.1:c.337G>T	p.Gly113Trp	p.G113W	ENST00000444154		113	Ggg/Tgg	0	not done			
CYP4F8		inserm.fr	GRCh37	19	15734787	15734787	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC892T																					ENST00000589787.1:n.2707C>T		*903*	ENST00000589787				0	not done		probablydamaging	
IFT140		inserm.fr	GRCh37	16	1573885	1573885	+	synonymous_variant	Silent	SNP	G	T	T			CHC1053T																					ENST00000426508.2:c.3214C>A	p.Arg1072=	p.R1072=	ENST00000426508	NM_014714.3	1072	Cga/Aga	0	validated		synonymous	
PTPRN2		inserm.fr	GRCh37	7	157414140	157414140	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1720T																					ENST00000389418.4:c.2258G>A	p.Cys753Tyr	p.C753Y	ENST00000389418	NM_002847.3	753	tGc/tAc	0	not done		probablydamaging	
PTPRN2		inserm.fr	GRCh37	7	157475495	157475495	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T									Valid												ENST00000389418.4:c.1923T>A	p.His641Gln	p.H641Q	ENST00000389418	NM_002847.3	641	caT/caA	0	validated		probablydamaging	
FCRL5		inserm.fr	GRCh37	1	157490860	157490860	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2206T																					ENST00000361835.3:c.2462C>A	p.Ala821Asp	p.A821D	ENST00000361835	NM_001195388.1	821	gCc/gAc	0	not done		benign	
FCRL5		inserm.fr	GRCh37	1	157494145	157494145	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC306T																					ENST00000361835.3:c.2163T>A	p.His721Gln	p.H721Q	ENST00000361835	NM_001195388.1	721	caT/caA	0	validated		possiblydamaging	
FCRL5		inserm.fr	GRCh37	1	157514298	157514298	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM545T									Valid												ENST00000361835.3:c.598C>A	p.Gln200Lys	p.Q200K	ENST00000361835	NM_001195388.1	200	Cag/Aag	0	validated		possiblydamaging	
ARID1B		inserm.fr	GRCh37	6	157528105	157528105	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCM723T																					ENST00000346085.5:c.5830C>T	p.Arg1944Ter	p.R1944*	ENST00000346085	NM_020732.3	1944	Cga/Tga	0	validated		damaging	
CYP4F3		inserm.fr	GRCh37	19	15754728	15754728	+	intron_variant	Intron	SNP	G	T	T			CHC326T																					ENST00000221307.8:c.199-1801G>T		*67*	ENST00000221307	NM_000896.2			0	validated		synonymous	
FCRL4		inserm.fr	GRCh37	1	157556012	157556012	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000271532.1:c.1081G>A	p.Ala361Thr	p.A361T	ENST00000271532	NM_031282.2	361	Gca/Aca	0	not done		probablydamaging	
FCRL4		inserm.fr	GRCh37	1	157556200	157556200	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000271532.1:c.893G>A	p.Gly298Asp	p.G298D	ENST00000271532	NM_031282.2	298	gGc/gAc	0	not done		benign	
FCRL3		inserm.fr	GRCh37	1	157659642	157659642	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC891T																					ENST00000368184.3:c.1756G>A	p.Val586Ile	p.V586I	ENST00000368184	NM_052939.3	586	Gtc/Atc	0	not done		possiblydamaging	
FCRL3		inserm.fr	GRCh37	1	157659698	157659698	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000368184.3:c.1700G>A	p.Arg567Lys	p.R567K	ENST00000368184	NM_052939.3	567	aGg/aAg	0	not done		benign	
FCRL3		inserm.fr	GRCh37	1	157665157	157665157	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000368184.3:c.1373G>A	p.Gly458Glu	p.G458E	ENST00000368184	NM_052939.3	458	gGg/gAg	0	not done		possiblydamaging	
CTRC		inserm.fr	GRCh37	1	15768966	15768966	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375949.4:c.254C>T	p.Ala85Val	p.A85V	ENST00000375949	NM_007272.2	85	gCc/gTc	0	not done		benign	
FCRL2		inserm.fr	GRCh37	1	157738440	157738440	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1531T																					ENST00000361516.3:c.647T>A	p.Val216Glu	p.V216E	ENST00000361516	NM_030764.3	216	gTg/gAg	0	not done		probablydamaging	
FCRL1		inserm.fr	GRCh37	1	157767969	157767969	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC313T									Valid												ENST00000368176.3:c.1096C>A	p.Gln366Lys	p.Q366K	ENST00000368176	NM_001159398.1	366	Cag/Aag	0	validated		probablydamaging	
CCDC171		inserm.fr	GRCh37	9	15777687	15777687	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM683T																					ENST00000380701.3:c.2761G>T	p.Glu921Ter	p.E921*	ENST00000380701	NM_173550.2	921	Gaa/Taa	0	validated		damaging	
CD5L		inserm.fr	GRCh37	1	157804243	157804243	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000368174.4:c.672G>A	p.Gly224=	p.G224=	ENST00000368174	NM_005894.2	224	ggG/ggA	0	not done		synonymous	
SHOX2		inserm.fr	GRCh37	3	157823564	157823564	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000389589.4:c.250G>A	p.Gly84Ser	p.G84S	ENST00000389589	NM_003030.4	84	Ggc/Agc	0	not done		benign	
RSRC1		inserm.fr	GRCh37	3	157920952	157920952	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC902T																					ENST00000295930.3:c.412C>T	p.Arg138Ter	p.R138*	ENST00000295930	NM_016625.3	138	Cga/Tga	0	not done		damaging	
PTPRN2		inserm.fr	GRCh37	7	157959913	157959913	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB307T																					ENST00000389418.4:c.620G>A	p.Gly207Glu	p.G207E	ENST00000389418	NM_002847.3	207	gGg/gAg	0	validated		benign	
PTPRN2		inserm.fr	GRCh37	7	157959973	157959973	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1592T																					ENST00000389418.4:c.560G>A	p.Arg187His	p.R187H	ENST00000389418	NM_002847.3	187	cGc/cAc	0	not done		possiblydamaging	
EPS8		inserm.fr	GRCh37	12	15803822	15803822	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T																					ENST00000281172.5:c.1369G>A	p.Ala457Thr	p.A457T	ENST00000281172	NM_004447.5	457	Gca/Aca	0	validated		benign	
ZDHHC14		inserm.fr	GRCh37	6	158053914	158053914	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC2128T																					ENST00000359775.5:c.752G>T	p.Ser251Ile	p.S251I	ENST00000359775		251	aGc/aTc	0	not done		possiblydamaging	
GLRB		inserm.fr	GRCh37	4	158057675	158057675	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1624T																					ENST00000264428.4:c.352C>T	p.Leu118Phe	p.L118F	ENST00000264428	NM_000824.4	118	Ctc/Ttc	0	validated		probablydamaging	
GLRB		inserm.fr	GRCh37	4	158065058	158065058	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1739T																					ENST00000264428.4:c.851C>T	p.Ser284Phe	p.S284F	ENST00000264428	NM_000824.4	284	tCc/tTc	0	validated		probablydamaging	
ANKRD28		inserm.fr	GRCh37	3	15807789	15807789	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000399451.2:c.142G>A	p.Ala48Thr	p.A48T	ENST00000399451	NM_015199.3	48	Gca/Aca	0	not done		probablydamaging	
GALNT5		inserm.fr	GRCh37	2	158114826	158114826	+	synonymous_variant	Silent	SNP	C	T	T			BCM399T																					ENST00000259056.4:c.232C>T	p.Leu78=	p.L78=	ENST00000259056	NM_014568.1	78	Cta/Tta	0	validated		synonymous	
GALNT5		inserm.fr	GRCh37	2	158152977	158152977	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000259056.4:c.1949C>T	p.Pro650Leu	p.P650L	ENST00000259056	NM_014568.1	650	cCt/cTt	0	not done		probablydamaging	
CASP9		inserm.fr	GRCh37	1	15821775	15821775	+	synonymous_variant	Silent	SNP	A	T	T			CHC884T																					ENST00000333868.5:c.1041T>A	p.Thr347=	p.T347=	ENST00000333868		347	acT/acA	0	validated		synonymous	
CD1A		inserm.fr	GRCh37	1	158226658	158226658	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000289429.5:c.687C>T	p.Tyr229=	p.Y229=	ENST00000289429	NM_001763.2	229	taC/taT	0	not done		synonymous	
CD1C		inserm.fr	GRCh37	1	158260956	158260956	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000368170.3:c.94C>T	p.Gln32Ter	p.Q32*	ENST00000368170	NM_001765.2	32	Cag/Tag	0	not done		damaging	
SNX9		inserm.fr	GRCh37	6	158288579	158288579	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1601T																					ENST00000392185.3:c.13G>T	p.Ala5Ser	p.A5S	ENST00000392185	NM_016224.4	5	Gct/Tct	0	not done		damaging	
CD1E		inserm.fr	GRCh37	1	158324216	158324216	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000368167.3:c.108C>T	p.Ser36=	p.S36=	ENST00000368167	NM_030893.3	36	tcC/tcT	0	not done		synonymous	
ZRSR2		inserm.fr	GRCh37	X	15833863	15833863	+	synonymous_variant	Silent	SNP	G	T	T			BCM723T																					ENST00000307771.7:c.621G>T	p.Thr207=	p.T207=	ENST00000307771	NM_005089.3	207	acG/acT	0	validated		synonymous	
OR10T2		inserm.fr	GRCh37	1	158369117	158369117	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM545T																					ENST00000334438.1:c.140T>A	p.Met47Lys	p.M47K	ENST00000334438	NM_001004475.1	47	aTg/aAg	0	validated		probablydamaging	
GFM1		inserm.fr	GRCh37	3	158371130	158371130	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC301T																					ENST00000486715.1:c.872C>T	p.Ser291Leu	p.S291L	ENST00000486715	NM_024996.5	291	tCa/tTa	0	validated		benign	
ZRSR2		inserm.fr	GRCh37	X	15838343	15838343	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCM703T									Valid												ENST00000307771.7:c.841C>T	p.Gln281Ter	p.Q281*	ENST00000307771	NM_005089.3	281	Caa/Taa	0	validated		damaging	
ACVR1C		inserm.fr	GRCh37	2	158395139	158395139	+	synonymous_variant	Silent	SNP	A	T	T			BCM735T																					ENST00000243349.8:c.1302T>A	p.Val434=	p.V434=	ENST00000243349	NM_001111032.1	434	gtT/gtA	0	validated		synonymous	
OR10K1		inserm.fr	GRCh37	1	158436239	158436239	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC796T																					ENST00000289451.2:c.888A>T	p.Glu296Asp	p.E296D	ENST00000289451	NM_001004473.1	296	gaA/gaT	0	validated		benign	
MBD3		inserm.fr	GRCh37	19	1584573	1584573	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000156825.1:c.374G>A	p.Ser125Asn	p.S125N	ENST00000156825		125	aGc/aAc	0	not done		benign	
SYNJ2		inserm.fr	GRCh37	6	158485778	158485778	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000355585.4:c.1355C>T	p.Ala452Val	p.A452V	ENST00000355585	NM_001178088.1	452	gCc/gTc	0	not done		probablydamaging	
OR10H3		inserm.fr	GRCh37	19	15853024	15853024	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000305892.1:c.822C>T	p.Ala274=	p.A274=	ENST00000305892	NM_013938.1	274	gcC/gcT	0	not done		synonymous	
ESYT2		inserm.fr	GRCh37	7	158531810	158531810	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC1604T																					ENST00000251527.5:c.2252G>A	p.Gly751Glu	p.G751E	ENST00000251527	NM_020728.2	751	gGg/gAg	0	not done		probablydamaging	
OR6P1		inserm.fr	GRCh37	1	158533233	158533233	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM275T																					ENST00000334632.1:c.162C>A	p.Ser54Arg	p.S54R	ENST00000334632	NM_001160325.1	54	agC/agA	0	validated		benign	
OR10Z1		inserm.fr	GRCh37	1	158576275	158576275	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC801T																					ENST00000361284.1:c.47G>T	p.Gly16Val	p.G16V	ENST00000361284	NM_001004478.1	16	gGc/gTc	0	not done		probablydamaging	
SPTA1		inserm.fr	GRCh37	1	158595968	158595968	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1207T																					ENST00000368147.4:c.5878C>A	p.Leu1960Ile	p.L1960I	ENST00000368147	NM_003126.2	1960	Ctt/Att	0	not done		probablydamaging	
SPTA1		inserm.fr	GRCh37	1	158597414	158597414	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000368147.4:c.5664+1G>A		p.X1888_splice	ENST00000368147	NM_003126.2			0	not done		damaging	
SPTA1		inserm.fr	GRCh37	1	158597427	158597427	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC898T																					ENST00000368147.4:c.5652C>A	p.Asp1884Glu	p.D1884E	ENST00000368147	NM_003126.2	1884	gaC/gaA	0	not done		probablydamaging	
SPTA1		inserm.fr	GRCh37	1	158606515	158606515	+	synonymous_variant	Silent	SNP	C	T	T			CHC884T																					ENST00000368147.4:c.5226G>A	p.Gly1742=	p.G1742=	ENST00000368147	NM_003126.2	1742	ggG/ggA	0	validated		synonymous	
SPTA1		inserm.fr	GRCh37	1	158607826	158607826	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC891T																					ENST00000368147.4:c.5186T>A	p.Ile1729Lys	p.I1729K	ENST00000368147	NM_003126.2	1729	aTa/aAa	0	not done		probablydamaging	
SPTA1		inserm.fr	GRCh37	1	158615385	158615385	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC879T																					ENST00000368147.4:c.3897-1G>A		p.X1299_splice	ENST00000368147	NM_003126.2			0	not done		possiblydamaging	
SPTA1		inserm.fr	GRCh37	1	158618399	158618399	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1597T																					ENST00000368147.4:c.3614C>A	p.Ala1205Asp	p.A1205D	ENST00000368147	NM_003126.2	1205	gCc/gAc	0	not done		probablydamaging	
SPTA1		inserm.fr	GRCh37	1	158641161	158641161	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1601T																					ENST00000368147.4:c.1571C>A	p.Ala524Asp	p.A524D	ENST00000368147	NM_003126.2	524	gCc/gAc	0	not done		possiblydamaging	
SPTA1		inserm.fr	GRCh37	1	158641226	158641226	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000368147.4:c.1506G>A	p.Glu502=	p.E502=	ENST00000368147	NM_003126.2	502	gaG/gaA	0	not done		synonymous	
SPTA1		inserm.fr	GRCh37	1	158651397	158651397	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1717T																					ENST00000368147.4:c.451G>A	p.Gly151Ser	p.G151S	ENST00000368147	NM_003126.2	151	Ggt/Agt	0	not done		benign	
WDR60		inserm.fr	GRCh37	7	158664190	158664190	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000407559.3:c.427C>T	p.Leu143=	p.L143=	ENST00000407559	NM_018051.4	143	Ctg/Ttg	0	not done		synonymous	
WDR60		inserm.fr	GRCh37	7	158679710	158679710	+	splice_acceptor_variant	Splice_Site	SNP	A	T	T			CHC433T									Valid												ENST00000407559.3:c.936-2A>T		p.X312_splice	ENST00000407559	NM_018051.4			0	validated		damaging	
WDR60		inserm.fr	GRCh37	7	158718881	158718881	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1052T									Valid												ENST00000407559.3:c.2261G>T	p.Gly754Val	p.G754V	ENST00000407559	NM_018051.4	754	gGa/gTa	0	validated		probablydamaging	
OR6K6		inserm.fr	GRCh37	1	158725546	158725546	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000368144.2:c.941C>T	p.Pro314Leu	p.P314L	ENST00000368144	NM_001005184.1	314	cCc/cTc	0	not done		probablydamaging	
MNDA		inserm.fr	GRCh37	1	158811976	158811976	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000368141.4:c.33G>T	p.Leu11=	p.L11=	ENST00000368141	NM_002432.1	11	ctG/ctT	0	validated		synonymous	
MNDA		inserm.fr	GRCh37	1	158815562	158815562	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000368141.4:c.756C>T	p.Phe252=	p.F252=	ENST00000368141	NM_002432.1	252	ttC/ttT	0	not done		synonymous	
MNDA		inserm.fr	GRCh37	1	158817671	158817671	+	synonymous_variant	Silent	SNP	C	T	T			CHC1545T																					ENST00000368141.4:c.1141C>T	p.Leu381=	p.L381=	ENST00000368141	NM_002432.1	381	Ctg/Ttg	0	not done		synonymous	
CYP4F24P		inserm.fr	GRCh37	19	15884937	15884937	+	non_coding_transcript_exon_variant	RNA	SNP	G	T	T			CHC1704T																					ENST00000586049.3:n.406C>A		*136*	ENST00000586049				0	not done			
PYHIN1		inserm.fr	GRCh37	1	158943495	158943495	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2052T																					ENST00000368140.1:c.1418C>T	p.Pro473Leu	p.P473L	ENST00000368140	NM_152501.4	473	cCa/cTa	0	not done		possiblydamaging	
IFI16		inserm.fr	GRCh37	1	159024658	159024658	+	synonymous_variant	Silent	SNP	A	T	T			CHC1192T																					ENST00000368131.4:c.2157A>T	p.Ser719=	p.S719=	ENST00000368131	NM_005531.2	719	tcA/tcT	0	not done		synonymous	
CCDC148		inserm.fr	GRCh37	2	159033075	159033075	+	synonymous_variant	Silent	SNP	A	T	T			CHC1531T																					ENST00000283233.5:c.1587T>A	p.Leu529=	p.L529=	ENST00000283233	NM_138803.3	529	ctT/ctA	0	not done		synonymous	
OR10H5		inserm.fr	GRCh37	19	15905720	15905720	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000308940.8:c.862C>T	p.Pro288Ser	p.P288S	ENST00000308940	NM_001004466.1	288	Ccc/Tcc	0	not done		probablydamaging	
DARC		inserm.fr	GRCh37	1	159175413	159175413	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000368121.2:c.190C>T	p.Leu64=	p.L64=	ENST00000368121	NM_001122951.2	64	Ctg/Ttg	0	not done		synonymous	
OR10H1		inserm.fr	GRCh37	19	15918832	15918832	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1035T																					ENST00000334920.2:c.16C>A	p.His6Asn	p.H6N	ENST00000334920	NM_013940.2	6	Cac/Aac	0	validated		probablydamaging	
MYH11		inserm.fr	GRCh37	16	15931998	15931998	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1602T																					ENST00000396324.3:c.112G>A	p.Val38Ile	p.V38I	ENST00000396324	NM_001040114.1	38	Gtc/Atc	0	not done		benign	
FBXL7		inserm.fr	GRCh37	5	15936847	15936847	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1743T																					ENST00000504595.1:c.1028G>T	p.Arg343Leu	p.R343L	ENST00000504595	NM_012304.4	343	cGg/cTg	0	not done		probablydamaging	
FGFBP1		inserm.fr	GRCh37	4	15937893	15937893	+	synonymous_variant	Silent	SNP	G	T	T			CHC614T																					ENST00000382333.1:c.363C>A	p.Arg121=	p.R121=	ENST00000382333	NM_005130.4	121	cgC/cgA	0	validated		synonymous	
ADRA1B		inserm.fr	GRCh37	5	159399157	159399157	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000306675.3:c.1221G>T	p.Leu407=	p.L407=	ENST00000306675	NM_000679.3	407	ctG/ctT	0	validated		synonymous	
RXFP1		inserm.fr	GRCh37	4	159533469	159533469	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1065T																					ENST00000307765.5:c.635G>T	p.Arg212Leu	p.R212L	ENST00000307765	NM_001253728.1	212	cGa/cTa	0	validated		probablydamaging	
FGFBP2		inserm.fr	GRCh37	4	15964423	15964423	+	synonymous_variant	Silent	SNP	C	T	T			CHC2216T																					ENST00000259989.6:c.330G>A	p.Pro110=	p.P110=	ENST00000259989	NM_031950.3	110	ccG/ccA	0	not done		synonymous	
FNDC1		inserm.fr	GRCh37	6	159653015	159653015	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB111T																					ENST00000297267.9:c.1471C>T	p.Pro491Ser	p.P491S	ENST00000297267	NM_032532.2	491	Ccc/Tcc	0	validated		probablydamaging	
FNDC1		inserm.fr	GRCh37	6	159653367	159653367	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC197T									Valid												ENST00000297267.9:c.1823C>T	p.Pro608Leu	p.P608L	ENST00000297267	NM_032532.2	608	cCc/cTc	0	validated		probablydamaging	
FNDC1		inserm.fr	GRCh37	6	159653690	159653690	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000297267.9:c.2146C>T	p.Pro716Ser	p.P716S	ENST00000297267	NM_032532.2	716	Ccc/Tcc	0	not done		benign	
FCRL6		inserm.fr	GRCh37	1	159778147	159778147	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1568T																					ENST00000368106.3:c.232C>T	p.Arg78Cys	p.R78C	ENST00000368106	NM_001004310.2	78	Cgt/Tgt	0	not done		probablydamaging	
FCRL6		inserm.fr	GRCh37	1	159779465	159779465	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1192T																					ENST00000368106.3:c.878C>T	p.Ser293Phe	p.S293F	ENST00000368106	NM_001004310.2	293	tCt/tTt	0	not done		probablydamaging	
SLAMF8		inserm.fr	GRCh37	1	159799665	159799665	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000289707.5:c.50C>T	p.Pro17Leu	p.P17L	ENST00000289707	NM_020125.2	17	cCc/cTc	0	not done		probablydamaging	
SLU7		inserm.fr	GRCh37	5	159830453	159830453	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000297151.4:c.1600G>A	p.Ala534Thr	p.A534T	ENST00000297151	NM_006425.4	534	Gcc/Acc	0	not done		benign	
CCDC19		inserm.fr	GRCh37	1	159842796	159842796	+	synonymous_variant	Silent	SNP	C	T	T			CHC1743T																					ENST00000368099.4:c.1515G>A	p.Glu505=	p.E505=	ENST00000368099	NM_012337.2	505	gaG/gaA	0	not done		synonymous	
IGSF9		inserm.fr	GRCh37	1	159899162	159899162	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM375T																					ENST00000368094.1:c.2348C>A	p.Pro783Gln	p.P783Q	ENST00000368094	NM_001135050.1	783	cCg/cAg	0	validated		benign	
IGSF9		inserm.fr	GRCh37	1	159899735	159899735	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1182T																					ENST00000368094.1:c.2095T>A	p.Phe699Ile	p.F699I	ENST00000368094	NM_001135050.1	699	Ttc/Atc	0	not done		benign	
CYP4F2		inserm.fr	GRCh37	19	15996793	15996793	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000221700.6:c.1056G>A	p.Glu352=	p.E352=	ENST00000221700	NM_001082.3	352	gaG/gaA	0	not done		synonymous	
CYP4F2		inserm.fr	GRCh37	19	16003343	16003343	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCB301T									Valid												ENST00000221700.6:c.393G>A	p.Trp131Ter	p.W131*	ENST00000221700	NM_001082.3	131	tgG/tgA	0	validated		damaging	
TANC1		inserm.fr	GRCh37	2	160035529	160035529	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1192T																					ENST00000263635.6:c.2365G>T	p.Glu789Ter	p.E789*	ENST00000263635	NM_033394.2	789	Gaa/Taa	0	not done		damaging	
NCOR1		inserm.fr	GRCh37	17	16004705	16004705	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000268712.3:c.2549G>A	p.Ser850Asn	p.S850N	ENST00000268712	NM_006311.3	850	aGt/aAt	0	not done		benign	
ATP10B		inserm.fr	GRCh37	5	160047807	160047807	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC326T																					ENST00000327245.5:c.1963G>A	p.Val655Met	p.V655M	ENST00000327245	NM_025153.2	655	Gtg/Atg	0	validated		benign	
KCNJ9		inserm.fr	GRCh37	1	160054451	160054451	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1152T																					ENST00000368088.3:c.631C>T	p.Arg211Cys	p.R211C	ENST00000368088	NM_004983.2	211	Cgc/Tgc	0	validated		probablydamaging	
ATP10B		inserm.fr	GRCh37	5	160059337	160059337	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1053T																					ENST00000327245.5:c.1419T>A	p.Asp473Glu	p.D473E	ENST00000327245	NM_025153.2	473	gaT/gaA	0	validated		benign	
IFT80		inserm.fr	GRCh37	3	160073860	160073860	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000326448.7:c.718G>A	p.Asp240Asn	p.D240N	ENST00000326448	NM_020800.2	240	Gat/Aat	0	not done		probablydamaging	
ATP10B		inserm.fr	GRCh37	5	160113131	160113131	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM567T																					ENST00000327245.5:c.425G>A	p.Arg142His	p.R142H	ENST00000327245	NM_025153.2	142	cGc/cAc	0	validated		possiblydamaging	
PNLDC1		inserm.fr	GRCh37	6	160229806	160229806	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM483T									Valid												ENST00000610273.1:c.564G>T	p.Arg188Ser	p.R188S	ENST00000610273	NM_173516.2	188	agG/agT	0	validated		possiblydamaging	
PNLDC1		inserm.fr	GRCh37	6	160230184	160230184	+	synonymous_variant	Silent	SNP	C	T	T			CHC2351T																					ENST00000610273.1:c.744C>T	p.Ala248=	p.A248=	ENST00000610273	NM_173516.2	248	gcC/gcT	0	not done		synonymous	
KPNA4		inserm.fr	GRCh37	3	160231897	160231897	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM501T																					ENST00000334256.4:c.1105C>A	p.Leu369Ile	p.L369I	ENST00000334256	NM_002268.4	369	Ctt/Att	0	validated		possiblydamaging	
PROM1		inserm.fr	GRCh37	4	16025950	16025950	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1053T									Valid												ENST00000510224.1:c.662C>A	p.Thr221Asn	p.T221N	ENST00000510224		221	aCt/aAt	0	validated		possiblydamaging	
SOX6		inserm.fr	GRCh37	11	16036488	16036488	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000396356.3:c.1732G>A	p.Gly578Arg	p.G578R	ENST00000396356	NM_033326.3	578	Gga/Aga	0	not done		probablydamaging	
CYP4F11		inserm.fr	GRCh37	19	16038148	16038148	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000402119.4:c.399G>A	p.Gly133=	p.G133=	ENST00000402119	NM_021187.3	133	ggG/ggA	0	not done		damaging	
VANGL2		inserm.fr	GRCh37	1	160389170	160389170	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000368061.2:c.571C>T	p.Leu191=	p.L191=	ENST00000368061	NM_020335.2	191	Ctg/Ttg	0	not done		synonymous	
VANGL2		inserm.fr	GRCh37	1	160389190	160389190	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1602T																					ENST00000368061.2:c.591G>T	p.Trp197Cys	p.W197C	ENST00000368061	NM_020335.2	197	tgG/tgT	0	not done		probablydamaging	
IGF2R		inserm.fr	GRCh37	6	160448281	160448281	+	synonymous_variant	Silent	SNP	A	T	T			CHC1736T																					ENST00000356956.1:c.711A>T	p.Val237=	p.V237=	ENST00000356956	NM_000876.2	237	gtA/gtT	0	not done		synonymous	
PLEKHM2		inserm.fr	GRCh37	1	16045054	16045054	+	synonymous_variant	Silent	SNP	C	T	T			CHC1035T																					ENST00000375799.3:c.399C>T	p.His133=	p.H133=	ENST00000375799	NM_015164.2	133	caC/caT	0	validated		synonymous	
NCOR1		inserm.fr	GRCh37	17	16046998	16046998	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000268712.3:c.1095G>A	p.Arg365=	p.R365=	ENST00000268712	NM_006311.3	365	agG/agA	0	not done		synonymous	
IGF2R		inserm.fr	GRCh37	6	160524787	160524787	+	synonymous_variant	Silent	SNP	G	T	T			CHC1725T																					ENST00000356956.1:c.7005G>T	p.Val2335=	p.V2335=	ENST00000356956	NM_000876.2	2335	gtG/gtT	0	not done		synonymous	
UQCR11		inserm.fr	GRCh37	19	1605382	1605382	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000585937.1:c.27C>A	p.Arg9=	p.R9=	ENST00000585937		9	cgC/cgA	0	validated		synonymous	
SLC22A1		inserm.fr	GRCh37	6	160555050	160555050	+	synonymous_variant	Silent	SNP	C	T	T			CHC1211T																					ENST00000366963.4:c.732C>T	p.Phe244=	p.F244=	ENST00000366963	NM_153187.1	244	ttC/ttT	0	not done		synonymous	
OR10H4		inserm.fr	GRCh37	19	16060223	16060223	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000322107.1:c.406C>T	p.Leu136Phe	p.L136F	ENST00000322107	NM_001004465.1	136	Ctc/Ttc	0	not done		benign	
CD48		inserm.fr	GRCh37	1	160654877	160654877	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1053T																					ENST00000368046.3:c.185T>A	p.Phe62Tyr	p.F62Y	ENST00000368046	NM_001778.3	62	tTc/tAc	0	validated		benign	
TMEM82		inserm.fr	GRCh37	1	16070723	16070723	+	synonymous_variant	Silent	SNP	G	T	T			CHC1756T																					ENST00000375782.1:c.405G>T	p.Leu135=	p.L135=	ENST00000375782	NM_001013641.2	135	ctG/ctT	0	not done		synonymous	
LY75		inserm.fr	GRCh37	2	160709858	160709858	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000504764.1:c.2669G>A	p.Arg890Gln	p.R890Q	ENST00000504764	NM_001198759.1	890	cGa/cAa	0	validated		probablydamaging	
SLAMF7		inserm.fr	GRCh37	1	160720108	160720108	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC917T																					ENST00000368043.3:c.664C>T	p.Pro222Ser	p.P222S	ENST00000368043	NM_021181.3	222	Cca/Tca	0	validated		benign	
LY75		inserm.fr	GRCh37	2	160729062	160729062	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC218T																					ENST00000504764.1:c.2017G>A	p.Glu673Lys	p.E673K	ENST00000504764	NM_001198759.1	673	Gaa/Aaa	0	validated		probablydamaging	
NCOR1		inserm.fr	GRCh37	17	16075239	16075239	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1591T																					ENST00000268712.3:c.313G>A	p.Glu105Lys	p.E105K	ENST00000268712	NM_006311.3	105	Gaa/Aaa	0	not done		benign	
PROM1		inserm.fr	GRCh37	4	16077495	16077495	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000510224.1:c.35G>A	p.Gly12Glu	p.G12E	ENST00000510224		12	gGg/gAg	0	not done		benign	
LY9		inserm.fr	GRCh37	1	160784290	160784290	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000263285.6:c.811C>T	p.Leu271Phe	p.L271F	ENST00000263285		271	Ctc/Ttc	0	not done		benign	
LY9		inserm.fr	GRCh37	1	160797590	160797590	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC805T																					ENST00000263285.6:c.1952A>T	p.Tyr651Phe	p.Y651F	ENST00000263285		651	tAt/tTt	0	not done		probablydamaging	
PLA2R1		inserm.fr	GRCh37	2	160869862	160869862	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC798T									Valid												ENST00000283243.7:c.1576T>A	p.Cys526Ser	p.C526S	ENST00000283243	NM_001195641.1	526	Tgt/Agt	0	validated		probablydamaging	
PLA2R1		inserm.fr	GRCh37	2	160876750	160876750	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000283243.7:c.1319G>A	p.Gly440Asp	p.G440D	ENST00000283243	NM_001195641.1	440	gGt/gAt	0	not done		probablydamaging	
PLA2R1		inserm.fr	GRCh37	2	160884802	160884802	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000283243.7:c.1026G>A	p.Arg342=	p.R342=	ENST00000283243	NM_001195641.1	342	agG/agA	0	not done		synonymous	
PSMG3		inserm.fr	GRCh37	7	1608964	1608964	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000288607.2:c.12G>A	p.Thr4=	p.T4=	ENST00000288607	NM_032302.3	4	acG/acA	0	not done		synonymous	
LPA		inserm.fr	GRCh37	6	160961142	160961142	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000447678.1:c.5668G>A	p.Glu1890Lys	p.E1890K	ENST00000447678	NM_005577.2	1890	Gaa/Aaa	0	not done		probablydamaging	
PVRL4		inserm.fr	GRCh37	1	161042593	161042593	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000368012.3:c.1391G>A	p.Gly464Asp	p.G464D	ENST00000368012	NM_030916.2	464	gGc/gAc	0	not done		probablydamaging	
PVRL4		inserm.fr	GRCh37	1	161047342	161047342	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000368012.3:c.631G>A	p.Val211Met	p.V211M	ENST00000368012	NM_030916.2	211	Gtg/Atg	0	not done		probablydamaging	
UFC1		inserm.fr	GRCh37	1	161128229	161128229	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM337T																					ENST00000368003.5:c.451C>T	p.Pro151Ser	p.P151S	ENST00000368003	NM_016406.3	151	Cct/Tct	0	validated		probablydamaging	
PLG		inserm.fr	GRCh37	6	161139400	161139400	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM711T																					ENST00000308192.9:c.862G>T	p.Ala288Ser	p.A288S	ENST00000308192	NM_000301.3	288	Gct/Tct	0	validated		benign	
RBMS1		inserm.fr	GRCh37	2	161169667	161169667	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000348849.3:c.402G>A	p.Lys134=	p.K134=	ENST00000348849	NM_002897.4	134	aaG/aaA	0	not done		damaging	
FCER1G		inserm.fr	GRCh37	1	161187849	161187849	+	synonymous_variant	Silent	SNP	C	T	T			CHC1626T																					ENST00000289902.1:c.123C>T	p.Leu41=	p.L41=	ENST00000289902	NM_004106.1	41	ctC/ctT	0	not done		synonymous	
FOXC1		inserm.fr	GRCh37	6	1611942	1611942	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1600T																					ENST00000380874.2:c.1262G>T	p.Gly421Val	p.G421V	ENST00000380874	NM_001453.2	421	gGc/gTc	0	validated		benign	
NR1I3		inserm.fr	GRCh37	1	161202694	161202694	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM337T																					ENST00000367980.2:c.451C>A	p.Leu151Met	p.L151M	ENST00000367980	NM_001077481.2	151	Ctg/Atg	0	validated		benign	
MPZ		inserm.fr	GRCh37	1	161277077	161277077	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM617T																					ENST00000533357.1:c.205C>A	p.Gln69Lys	p.Q69K	ENST00000533357	NM_000530.6	69	Cag/Aag	0	validated		possiblydamaging	
ABCC1		inserm.fr	GRCh37	16	16142140	16142140	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC314T									Valid												ENST00000399410.3:c.1360G>T	p.Ala454Ser	p.A454S	ENST00000399410	NM_004996.3	454	Gct/Tct	0	validated		probablydamaging	
GRPR		inserm.fr	GRCh37	X	16142294	16142294	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC465T									Valid												ENST00000380289.2:c.218A>T	p.Asn73Ile	p.N73I	ENST00000380289	NM_005314.2	73	aAc/aTc	0	validated		probablydamaging	
MAP3K4		inserm.fr	GRCh37	6	161528991	161528991	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000392142.4:c.4109C>T	p.Ala1370Val	p.A1370V	ENST00000392142	NM_005922.2	1370	gCc/gTc	0	not done		probablydamaging	
GABRG2		inserm.fr	GRCh37	5	161580264	161580264	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2200T																					ENST00000414552.2:c.1438G>T	p.Gly480Trp	p.G480W	ENST00000414552	NM_198903.2	480	Ggg/Tgg	0	not done		probablydamaging	
AGPAT4		inserm.fr	GRCh37	6	161587355	161587355	+	synonymous_variant	Silent	SNP	G	T	T			CHC1010T																					ENST00000320285.4:c.273C>A	p.Ile91=	p.I91=	ENST00000320285	NM_020133.2	91	atC/atA	0	not done		synonymous	
FCGR3B		inserm.fr	GRCh37	1	161599597	161599597	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000531221.1:c.398G>A	p.Ser133Asn	p.S133N	ENST00000531221		133	aGt/aAt	0	not done		probablydamaging	
DLGAP2		inserm.fr	GRCh37	8	1616525	1616525	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000421627.2:c.1601C>T	p.Pro534Leu	p.P534L	ENST00000421627	NM_004745.4	534	cCc/cTc	0	not done		probablydamaging	
ABCC1		inserm.fr	GRCh37	16	16180831	16180831	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1205T																					ENST00000399410.3:c.2443G>T	p.Gly815Trp	p.G815W	ENST00000399410	NM_004996.3	815	Ggg/Tgg	0	not done		probablydamaging	
OLFML2B		inserm.fr	GRCh37	1	161954037	161954037	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC609T									Valid												ENST00000294794.3:c.1681T>A	p.Tyr561Asn	p.Y561N	ENST00000294794	NM_015441.1	561	Tac/Aac	0	validated		probablydamaging	
PARK2		inserm.fr	GRCh37	6	161969898	161969898	+	synonymous_variant	Silent	SNP	G	T	T			CHC2200T																					ENST00000366898.1:c.1071C>A	p.Gly357=	p.G357=	ENST00000366898	NM_004562.2	357	ggC/ggA	0	not done		synonymous	
TBR1		inserm.fr	GRCh37	2	162273415	162273415	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC205T									Valid												ENST00000389554.3:c.494C>T	p.Ser165Leu	p.S165L	ENST00000389554	NM_006593.2	165	tCg/tTg	0	validated		possiblydamaging	
TBR1		inserm.fr	GRCh37	2	162280027	162280027	+	synonymous_variant	Silent	SNP	C	T	T			CHC1751T																					ENST00000389554.3:c.1338C>T	p.His446=	p.H446=	ENST00000389554	NM_006593.2	446	caC/caT	0	not done		synonymous	
ABCC1		inserm.fr	GRCh37	16	16228209	16228209	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000399410.3:c.3969C>T	p.Val1323=	p.V1323=	ENST00000399410	NM_004996.3	1323	gtC/gtT	0	not done		synonymous	
ABCC1		inserm.fr	GRCh37	16	16228361	16228361	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000399410.3:c.4121C>T	p.Pro1374Leu	p.P1374L	ENST00000399410	NM_004996.3	1374	cCc/cTc	0	not done		probablydamaging	
NOS1AP		inserm.fr	GRCh37	1	162336952	162336952	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC879T																					ENST00000361897.5:c.1216G>T	p.Ala406Ser	p.A406S	ENST00000361897	NM_014697.2	406	Gcg/Tcg	0	not done		benign	
FSTL5		inserm.fr	GRCh37	4	162459382	162459382	+	synonymous_variant	Silent	SNP	C	T	T			BCM695T																					ENST00000306100.5:c.1248G>A	p.Lys416=	p.K416=	ENST00000306100	NM_001128427.2	416	aaG/aaA	0	validated		synonymous	
ABCC6		inserm.fr	GRCh37	16	16248790	16248790	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000205557.7:c.3981G>A	p.Gly1327=	p.G1327=	ENST00000205557	NM_001171.5	1327	ggG/ggA	0	not done		synonymous	
SPEN		inserm.fr	GRCh37	1	16254672	16254672	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1083T																					ENST00000375759.3:c.1937C>T	p.Ser646Phe	p.S646F	ENST00000375759	NM_015001.2	646	tCc/tTc	0	validated		probablydamaging	
SPEN		inserm.fr	GRCh37	1	16258515	16258515	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1700T																					ENST00000375759.3:c.5780C>T	p.Pro1927Leu	p.P1927L	ENST00000375759	NM_015001.2	1927	cCa/cTa	0	not done		probablydamaging	
HSH2D		inserm.fr	GRCh37	19	16265209	16265209	+	splice_region_variant,3_prime_UTR_variant,NMD_transcript_variant	Splice_Region	SNP	A	T	T			BCM275T									Valid												ENST00000535834.1:c.*197A>T		p.X66_splice	ENST00000535834				0	validated		damaging	
DLGAP2		inserm.fr	GRCh37	8	1626672	1626672	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCB111T																					ENST00000421627.2:c.2341A>T	p.Met781Leu	p.M781L	ENST00000421627	NM_004745.4	781	Atg/Ttg	0	validated		benign	
PARK2		inserm.fr	GRCh37	6	162683689	162683689	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000366898.1:c.280G>A	p.Gly94Ser	p.G94S	ENST00000366898	NM_004562.2	94	Ggc/Agc	0	not done		benign	
ABCC6		inserm.fr	GRCh37	16	16271442	16271442	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000205557.7:c.2457G>A	p.Gln819=	p.Q819=	ENST00000205557	NM_001171.5	819	caG/caA	0	not done		synonymous	
TCF3		inserm.fr	GRCh37	19	1627409	1627409	+	synonymous_variant	Silent	SNP	C	T	T			CHC121T																					ENST00000344749.5:c.315G>A	p.Arg105=	p.R105=	ENST00000344749	NM_001136139.2	105	cgG/cgA	0	validated		synonymous	
SLC4A10		inserm.fr	GRCh37	2	162760603	162760603	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000446997.1:c.1532C>T	p.Ala511Val	p.A511V	ENST00000446997	NM_001178015.1	511	gCa/gTa	0	not done		possiblydamaging	
SLC4A10		inserm.fr	GRCh37	2	162761417	162761417	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000446997.1:c.1749C>T	p.Cys583=	p.C583=	ENST00000446997	NM_001178015.1	583	tgC/tgT	0	not done		synonymous	
CIB3		inserm.fr	GRCh37	19	16280477	16280477	+	synonymous_variant	Silent	SNP	C	T	T			CHC155T																					ENST00000269878.4:c.162G>A	p.Val54=	p.V54=	ENST00000269878	NM_054113.2	54	gtG/gtA	0	validated		synonymous	
C1orf110		inserm.fr	GRCh37	1	162825461	162825461	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM739T																					ENST00000367910.1:c.275G>A	p.Gly92Glu	p.G92E	ENST00000367910	NM_178550.4	92	gGa/gAa	0	validated		probablydamaging	
POTEH		inserm.fr	GRCh37	22	16287667	16287667	+	synonymous_variant	Silent	SNP	C	T	T			CHC121T																					ENST00000343518.6:c.219G>A	p.Arg73=	p.R73=	ENST00000343518	NM_001136213.1	73	agG/agA	0	validated		synonymous	
ABCC6		inserm.fr	GRCh37	16	16297275	16297275	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000205557.7:c.990G>A	p.Lys330=	p.K330=	ENST00000205557	NM_001171.5	330	aaG/aaA	0	not done		synonymous	
FAP		inserm.fr	GRCh37	2	163059551	163059551	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC909T																					ENST00000188790.4:c.1152G>A	p.Val384=	p.V384=	ENST00000188790	NM_004460.2	384	gtG/gtA	0	not done		possiblydamaging	
ATXN1		inserm.fr	GRCh37	6	16327032	16327032	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000244769.4:c.1510G>A	p.Ala504Thr	p.A504T	ENST00000244769	NM_000332.3	504	Gca/Aca	0	not done		possiblydamaging	
ATXN1		inserm.fr	GRCh37	6	16328200	16328200	+	synonymous_variant	Silent	SNP	C	T	T			CHC1207T																					ENST00000244769.4:c.342G>A	p.Pro114=	p.P114=	ENST00000244769	NM_000332.3	114	ccG/ccA	0	not done		synonymous	
NUF2		inserm.fr	GRCh37	1	163295915	163295915	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC793T									Valid												ENST00000271452.3:c.74G>T	p.Gly25Val	p.G25V	ENST00000271452	NM_145697.2	25	gGa/gTa	0	validated		probablydamaging	
NRIP1		inserm.fr	GRCh37	21	16338199	16338199	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			BCM759T																					ENST00000400202.1:c.2315T>A	p.Leu772Ter	p.L772*	ENST00000400202		772	tTg/tAg	0	validated		damaging	
NRIP1		inserm.fr	GRCh37	21	16340292	16340292	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000400202.1:c.222G>A	p.Gln74=	p.Q74=	ENST00000400202		74	caG/caA	0	not done		synonymous	
HSPB7		inserm.fr	GRCh37	1	16345786	16345786	+	upstream_gene_variant	5'Flank	SNP	C	T	T			BCM339T																								ENST00000311890	NM_014424.4			0	validated			
KIF16B		inserm.fr	GRCh37	20	16359927	16359927	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2200T																					ENST00000408042.1:c.2720G>A	p.Arg907His	p.R907H	ENST00000408042	NM_001199866.1	907	cGc/cAc	0	not done		benign	
QKI		inserm.fr	GRCh37	6	163876411	163876411	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM567T																					ENST00000361752.3:c.243G>T	p.Gln81His	p.Q81H	ENST00000361752	NM_006775.2	81	caG/caT	0	validated		benign	
NPY1R		inserm.fr	GRCh37	4	164247136	164247136	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000296533.2:c.571G>A	p.Ala191Thr	p.A191T	ENST00000296533	NM_000909.5	191	Gcg/Acg	0	not done		benign	
PXDN		inserm.fr	GRCh37	2	1642682	1642682	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000252804.4:c.4142G>A	p.Gly1381Glu	p.G1381E	ENST00000252804	NM_012293.1	1381	gGg/gAg	0	not done		benign	
KRTAP5-4		inserm.fr	GRCh37	11	1642743	1642743	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM257T																					ENST00000399682.1:c.581G>A	p.Cys194Tyr	p.C194Y	ENST00000399682	NM_001012709.1	194	tGc/tAc	0	validated		benign	
BNC2		inserm.fr	GRCh37	9	16437307	16437307	+	synonymous_variant	Silent	SNP	G	T	T			CHC794T																					ENST00000380672.4:c.885C>A	p.Pro295=	p.P295=	ENST00000380672	NM_017637.5	295	ccC/ccA	0	validated		synonymous	
BNC2		inserm.fr	GRCh37	9	16437497	16437497	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1717T																					ENST00000380672.4:c.695G>A	p.Arg232His	p.R232H	ENST00000380672	NM_017637.5	232	cGc/cAc	0	not done		possiblydamaging	
TKTL2		inserm.fr	GRCh37	4	164394434	164394434	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1749T																					ENST00000280605.3:c.453C>A	p.Phe151Leu	p.F151L	ENST00000280605	NM_032136.4	151	ttC/ttA	0	not done		probablydamaging	
SI		inserm.fr	GRCh37	3	164700197	164700197	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1629T																					ENST00000264382.3:c.5249C>A	p.Thr1750Asn	p.T1750N	ENST00000264382	NM_001041.3	1750	aCc/aAc	0	not done		possiblydamaging	
SI		inserm.fr	GRCh37	3	164735769	164735769	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000264382.3:c.3509G>A	p.Ser1170Asn	p.S1170N	ENST00000264382	NM_001041.3	1170	aGc/aAc	0	not done		probablydamaging	
SI		inserm.fr	GRCh37	3	164739154	164739154	+	synonymous_variant	Silent	SNP	C	T	T			CHC1600T																					ENST00000264382.3:c.3117G>A	p.Lys1039=	p.K1039=	ENST00000264382	NM_001041.3	1039	aaG/aaA	0	not done		synonymous	
SI		inserm.fr	GRCh37	3	164783053	164783053	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000264382.3:c.803G>A	p.Gly268Asp	p.G268D	ENST00000264382	NM_001041.3	268	gGt/gAt	0	not done		benign	
SI		inserm.fr	GRCh37	3	164793793	164793793	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM695T																					ENST00000264382.3:c.8G>A	p.Arg3Lys	p.R3K	ENST00000264382	NM_001041.3	3	aGa/aAa	0	validated		benign	
SLITRK3		inserm.fr	GRCh37	3	164906467	164906467	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC434T																					ENST00000475390.1:c.2152G>A	p.Gly718Arg	p.G718R	ENST00000475390		718	Gga/Aga	0	validated		possiblydamaging	
SLITRK3		inserm.fr	GRCh37	3	164907918	164907918	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000475390.1:c.701G>A	p.Trp234Ter	p.W234*	ENST00000475390		234	tGg/tAg	0	not done		damaging	
SERPINF2		inserm.fr	GRCh37	17	1649110	1649110	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000324015.3:c.274G>T	p.Asp92Tyr	p.D92Y	ENST00000324015	NM_000934.3	92	Gac/Tac	0	not done		probablydamaging	
TCF3		inserm.fr	GRCh37	19	1650209	1650209	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1756T																					ENST00000344749.5:c.39C>A	p.Asp13Glu	p.D13E	ENST00000344749	NM_001136139.2	13	gaC/gaA	0	not done		probablydamaging	
SERPINF2		inserm.fr	GRCh37	17	1650407	1650407	+	synonymous_variant	Silent	SNP	C	T	T			CHC1746T																					ENST00000324015.3:c.462C>T	p.Asp154=	p.D154=	ENST00000324015	NM_000934.3	154	gaC/gaT	0	not done		synonymous	
LDB2		inserm.fr	GRCh37	4	16510245	16510245	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000304523.5:c.804C>A	p.Ser268=	p.S268=	ENST00000304523	NM_001290.3	268	tcC/tcA	0	not done		synonymous	
LMX1A		inserm.fr	GRCh37	1	165173242	165173242	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC898T																					ENST00000342310.3:c.1024G>A	p.Asp342Asn	p.D342N	ENST00000342310	NM_177398.3	342	Gac/Aac	0	not done		probablydamaging	
LMX1A		inserm.fr	GRCh37	1	165175168	165175168	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1626T																					ENST00000342310.3:c.921C>A	p.Tyr307Ter	p.Y307*	ENST00000342310	NM_177398.3	307	taC/taA	0	not done		damaging	
PXDN		inserm.fr	GRCh37	2	1652129	1652129	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000252804.4:c.3423G>A	p.Glu1141=	p.E1141=	ENST00000252804	NM_012293.1	1141	gaG/gaA	0	not done		synonymous	
PXDN		inserm.fr	GRCh37	2	1652630	1652630	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000252804.4:c.2922G>A	p.Gly974=	p.G974=	ENST00000252804	NM_012293.1	974	ggG/ggA	0	not done		synonymous	
PXDN		inserm.fr	GRCh37	2	1652760	1652760	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1757T																					ENST00000252804.4:c.2792G>A	p.Ser931Asn	p.S931N	ENST00000252804	NM_012293.1	931	aGc/aAc	0	not done		benign	
ARHGEF19		inserm.fr	GRCh37	1	16531393	16531393	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000270747.3:c.1768G>A	p.Ala590Thr	p.A590T	ENST00000270747	NM_153213.3	590	Gcc/Acc	0	not done		benign	
LMX1A		inserm.fr	GRCh37	1	165322382	165322382	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000342310.3:c.194G>A	p.Cys65Tyr	p.C65Y	ENST00000342310	NM_177398.3	65	tGc/tAc	0	not done		probablydamaging	
RXRG		inserm.fr	GRCh37	1	165370594	165370594	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1592T																					ENST00000359842.5:c.1298G>A	p.Cys433Tyr	p.C433Y	ENST00000359842	NM_001256570.1	433	tGc/tAc	0	not done		probablydamaging	
COBLL1		inserm.fr	GRCh37	2	165578639	165578639	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000342193.4:c.942G>A	p.Gln314=	p.Q314=	ENST00000342193	NM_014900.4	314	caG/caA	0	not done		synonymous	
C1QL3		inserm.fr	GRCh37	10	16562979	16562979	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000298943.3:c.86G>A	p.Arg29His	p.R29H	ENST00000298943	NM_001010908.1	29	cGc/cAc	0	validated		possiblydamaging	
ALDH9A1		inserm.fr	GRCh37	1	165664550	165664550	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCM229T									Valid												ENST00000354775.4:c.266G>A	p.Trp89Ter	p.W89*	ENST00000354775	NM_000696.3	89	tGg/tAg	0	validated		damaging	
FAM53A		inserm.fr	GRCh37	4	1656849	1656849	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000308132.6:c.738G>A	p.Thr246=	p.T246=	ENST00000308132	NM_001174070.1	246	acG/acA	0	validated		synonymous	
TMCO1		inserm.fr	GRCh37	1	165738026	165738026	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1604T																					ENST00000367881.5:c.116C>A	p.Ser39Tyr	p.S39Y	ENST00000367881		39	tCc/tAc	0	not done			
PDE10A		inserm.fr	GRCh37	6	165752803	165752803	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM329T																					ENST00000539869.2:c.2142G>A	p.Met714Ile	p.M714I	ENST00000539869	NM_001130690.2	714	atG/atA	0	validated		probablydamaging	
FBXO42		inserm.fr	GRCh37	1	16578804	16578804	+	synonymous_variant	Silent	SNP	C	T	T			BCM257T																					ENST00000375592.3:c.1017G>A	p.Leu339=	p.L339=	ENST00000375592	NM_018994.1	339	ctG/ctA	0	validated		synonymous	
SLC38A11		inserm.fr	GRCh37	2	165809238	165809238	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2127T																					ENST00000409149.3:c.40T>A	p.Phe14Ile	p.F14I	ENST00000409149	NM_001199148.1	14	Ttc/Atc	0	not done		benign	
FBXO42		inserm.fr	GRCh37	1	16583135	16583135	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1209T																					ENST00000375592.3:c.622G>A	p.Asp208Asn	p.D208N	ENST00000375592	NM_018994.1	208	Gat/Aat	0	not done		benign	
CALR3		inserm.fr	GRCh37	19	16593272	16593272	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000269881.3:c.907G>A	p.Glu303Lys	p.E303K	ENST00000269881	NM_145046.4	303	Gag/Aag	0	not done		probablydamaging	
SCN3A		inserm.fr	GRCh37	2	165947448	165947448	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC121T									Valid												ENST00000283254.7:c.5215G>A	p.Gly1739Arg	p.G1739R	ENST00000283254	NM_001081676.1	1739	Gga/Aga	0	validated		probablydamaging	
TRIM60		inserm.fr	GRCh37	4	165961573	165961573	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1602T																					ENST00000512596.1:c.349A>T	p.Thr117Ser	p.T117S	ENST00000512596	NM_152620.2	117	Aca/Tca	0	not done		benign	
TRIM60		inserm.fr	GRCh37	4	165962482	165962482	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1604T																					ENST00000512596.1:c.1258G>T	p.Asp420Tyr	p.D420Y	ENST00000512596	NM_152620.2	420	Gac/Tac	0	not done		probablydamaging	
CALR3		inserm.fr	GRCh37	19	16606890	16606890	+	synonymous_variant	Silent	SNP	C	T	T			CHC1209T																					ENST00000269881.3:c.51G>A	p.Ala17=	p.A17=	ENST00000269881	NM_145046.4	17	gcG/gcA	0	not done		synonymous	
FAM78B		inserm.fr	GRCh37	1	166135329	166135329	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB167T																					ENST00000338353.3:c.157G>A	p.Ala53Thr	p.A53T	ENST00000338353		53	Gcc/Acc	0	validated		probablydamaging	
FAM134B		inserm.fr	GRCh37	5	16616856	16616856	+	synonymous_variant	Silent	SNP	C	T	T			CHC923T																					ENST00000306320.9:c.225G>A	p.Pro75=	p.P75=	ENST00000306320	NM_001034850.2	75	ccG/ccA	0	not done		synonymous	
SCN2A		inserm.fr	GRCh37	2	166179722	166179722	+	synonymous_variant	Silent	SNP	C	T	T			CHC097T																					ENST00000357398.3:c.1728C>T	p.Ser576=	p.S576=	ENST00000357398		576	agC/agT	0	not done		synonymous	
SCN2A		inserm.fr	GRCh37	2	166223828	166223828	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T									Valid												ENST00000357398.3:c.3622A>T	p.Asn1208Tyr	p.N1208Y	ENST00000357398		1208	Aat/Tat	0	validated		probablydamaging	
CTPS2		inserm.fr	GRCh37	X	16627756	16627756	+	synonymous_variant	Silent	SNP	C	T	T			CHC1720T																					ENST00000443824.1:c.1599G>A	p.Pro533=	p.P533=	ENST00000443824	NM_001144002.1	533	ccG/ccA	0	not done		synonymous	
MYO10		inserm.fr	GRCh37	5	16675177	16675177	+	synonymous_variant	Silent	SNP	A	T	T			CHC429T																					ENST00000513610.1:c.4749T>A	p.Ser1583=	p.S1583=	ENST00000513610	NM_012334.2	1583	tcT/tcA	0	validated		synonymous	
RPS6KA2		inserm.fr	GRCh37	6	166826376	166826376	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC469T									Valid												ENST00000503859.1:c.2101-1G>A		p.X701_splice	ENST00000503859	NM_001006932.1			0	validated		damaging	
SCN1A		inserm.fr	GRCh37	2	166848385	166848385	+	synonymous_variant	Silent	SNP	C	T	T			CHC1603T																					ENST00000303395.4:c.5400G>A	p.Leu1800=	p.L1800=	ENST00000303395		1800	ctG/ctA	0	not done		synonymous	
SCN1A		inserm.fr	GRCh37	2	166895989	166895989	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM399T																					ENST00000303395.4:c.2533G>A	p.Val845Ile	p.V845I	ENST00000303395		845	Gta/Ata	0	validated		benign	
TLL1		inserm.fr	GRCh37	4	166963293	166963293	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	T	T			CHC2043T																					ENST00000061240.2:c.1376A>T	p.Glu459Val	p.E459V	ENST00000061240	NM_012464.4	459	gAa/gTa	0	not done		probablydamaging	
MAEL		inserm.fr	GRCh37	1	166974549	166974549	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1079T																					ENST00000367872.4:c.760C>T	p.Gln254Ter	p.Q254*	ENST00000367872	NM_032858.1	254	Caa/Taa	0	not done		damaging	
MYO10		inserm.fr	GRCh37	5	16701100	16701100	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000513610.1:c.3404G>A	p.Arg1135Gln	p.R1135Q	ENST00000513610	NM_012334.2	1135	cGg/cAg	0	not done		benign	
BZW2		inserm.fr	GRCh37	7	16705100	16705100	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1629T																					ENST00000433922.2:c.32G>T	p.Gly11Val	p.G11V	ENST00000433922	NM_001159767.1	11	gGc/gTc	0	not done		possiblydamaging	
DUSP27		inserm.fr	GRCh37	1	167095341	167095341	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2029T																					ENST00000361200.2:c.973A>T	p.Ser325Cys	p.S325C	ENST00000361200		325	Agt/Tgt	0	validated		probablydamaging	
DUSP27		inserm.fr	GRCh37	1	167095725	167095725	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361200.2:c.1357C>T	p.Gln453Ter	p.Q453*	ENST00000361200		453	Cag/Tag	0	not done		damaging	
DUSP27		inserm.fr	GRCh37	1	167096356	167096356	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM759T																					ENST00000361200.2:c.1988G>T	p.Trp663Leu	p.W663L	ENST00000361200		663	tGg/tTg	0	validated		probablydamaging	
DUSP27		inserm.fr	GRCh37	1	167097257	167097257	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000361200.2:c.2889C>T	p.Thr963=	p.T963=	ENST00000361200		963	acC/acT	0	not done		synonymous	
SCN9A		inserm.fr	GRCh37	2	167168155	167168155	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000409672.1:c.112G>A	p.Glu38Lys	p.E38K	ENST00000409672	NM_002977.3	38	Gaa/Aaa	0	not done		benign	
WDR49		inserm.fr	GRCh37	3	167240214	167240214	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM567T																					ENST00000308378.3:c.1607T>A	p.Val536Glu	p.V536E	ENST00000308378	NM_178824.3	536	gTg/gAg	0	validated		benign	
SCN7A		inserm.fr	GRCh37	2	167266383	167266383	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1601T																					ENST00000409855.1:c.3774G>A	p.Met1258Ile	p.M1258I	ENST00000409855	NM_002976.3	1258	atG/atA	0	not done		benign	
SCN7A		inserm.fr	GRCh37	2	167277738	167277738	+	synonymous_variant	Silent	SNP	G	T	T			CHC322T																					ENST00000409855.1:c.3097C>A	p.Arg1033=	p.R1033=	ENST00000409855	NM_002976.3	1033	Cgg/Agg	0	validated		synonymous	
SCN7A		inserm.fr	GRCh37	2	167288852	167288852	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000409855.1:c.2568G>A	p.Lys856=	p.K856=	ENST00000409855	NM_002976.3	856	aaG/aaA	0	not done		synonymous	
SCN7A		inserm.fr	GRCh37	2	167288896	167288896	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2208T																					ENST00000409855.1:c.2524G>A	p.Glu842Lys	p.E842K	ENST00000409855	NM_002976.3	842	Gaa/Aaa	0	not done		probablydamaging	
BZW2		inserm.fr	GRCh37	7	16729431	16729431	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1598T																					ENST00000433922.2:c.551C>T	p.Ala184Val	p.A184V	ENST00000433922	NM_001159767.1	184	gCc/gTc	0	not done		benign	
OTOR		inserm.fr	GRCh37	20	16729554	16729554	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1052T									Valid												ENST00000246081.2:c.158C>T	p.Pro53Leu	p.P53L	ENST00000246081	NM_020157.3	53	cCg/cTg	0	validated		probablydamaging	
SYAP1		inserm.fr	GRCh37	X	16737862	16737862	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2141T																					ENST00000380155.3:c.15G>T	p.Leu5Phe	p.L5F	ENST00000380155	NM_032796.3	5	ttG/ttT	0	validated		possiblydamaging	
FAM49A		inserm.fr	GRCh37	2	16743330	16743330	+	synonymous_variant	Silent	SNP	G	T	T			CHC798T																					ENST00000381323.3:c.378C>A	p.Ala126=	p.A126=	ENST00000381323	NM_030797.3	126	gcC/gcA	0	validated		synonymous	
SERPINI1		inserm.fr	GRCh37	3	167508273	167508273	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1736T																					ENST00000295777.5:c.364G>T	p.Glu122Ter	p.E122*	ENST00000295777	NM_005025.4	122	Gag/Tag	0	not done		damaging	
TENM2		inserm.fr	GRCh37	5	167545383	167545383	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1775T																					ENST00000518659.1:c.1900G>T	p.Asp634Tyr	p.D634Y	ENST00000518659	NM_001122679.1	634	Gac/Tac	0	validated		probablydamaging	
GPR31		inserm.fr	GRCh37	6	167570897	167570897	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000366834.1:c.423G>A	p.Leu141=	p.L141=	ENST00000366834	NM_005299.2	141	ctG/ctA	0	not done		synonymous	
CRAMP1L		inserm.fr	GRCh37	16	1676128	1676128	+	synonymous_variant	Silent	SNP	C	T	T			CHC1756T																					ENST00000397412.3:c.501C>T	p.Ser167=	p.S167=	ENST00000397412		167	agC/agT	0	not done		synonymous	
UNC93A		inserm.fr	GRCh37	6	167711500	167711500	+	synonymous_variant	Silent	SNP	C	T	T			BCB325T																					ENST00000230256.3:c.567C>T	p.Thr189=	p.T189=	ENST00000230256	NM_018974.3	189	acC/acT	0	validated		synonymous	
XIRP2		inserm.fr	GRCh37	2	167760306	167760306	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000409195.1:c.314G>T	p.Arg105Leu	p.R105L	ENST00000409195	NM_152381.5	105	cGc/cTc	0	not done			
GOLIM4		inserm.fr	GRCh37	3	167761256	167761256	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000470487.1:c.428G>A	p.Gly143Glu	p.G143E	ENST00000470487	NM_014498.3	143	gGg/gAg	0	not done		probablydamaging	
ADCY10		inserm.fr	GRCh37	1	167787324	167787324	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1531T																					ENST00000367851.4:c.4468G>A	p.Glu1490Lys	p.E1490K	ENST00000367851	NM_018417.4	1490	Gag/Aag	0	not done		benign	
WWC1		inserm.fr	GRCh37	5	167812386	167812386	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1598T																					ENST00000521089.1:c.400G>T	p.Val134Phe	p.V134F	ENST00000521089		134	Gtc/Ttc	0	not done		benign	
ADCY10		inserm.fr	GRCh37	1	167817634	167817634	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000367851.4:c.2402G>A	p.Arg801Lys	p.R801K	ENST00000367851	NM_018417.4	801	aGa/aAa	0	not done		benign	
WWC1		inserm.fr	GRCh37	5	167851021	167851021	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM723T																					ENST00000521089.1:c.1758G>T	p.Gln586His	p.Q586H	ENST00000521089		586	caG/caT	0	validated		benign	
MYO10		inserm.fr	GRCh37	5	16794831	16794831	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T																					ENST00000513610.1:c.391C>A	p.Pro131Thr	p.P131T	ENST00000513610	NM_012334.2	131	Ccg/Acg	0	validated		probablydamaging	
XIRP2		inserm.fr	GRCh37	2	168041103	168041103	+	intron_variant	Intron	SNP	A	T	T			CHC1186T																					ENST00000409195.1:c.563-26142A>T		*188*	ENST00000409195	NM_152381.5			0	not done			
SLIT3		inserm.fr	GRCh37	5	168096806	168096806	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1052T									Valid												ENST00000519560.1:c.4318G>A	p.Gly1440Ser	p.G1440S	ENST00000519560	NM_003062.3	1440	Ggc/Agc	0	validated		probablydamaging	
SLIT3		inserm.fr	GRCh37	5	168096817	168096817	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC314T									Valid												ENST00000519560.1:c.4307C>A	p.Pro1436His	p.P1436H	ENST00000519560	NM_003062.3	1436	cCc/cAc	0	validated		probablydamaging	
XIRP2		inserm.fr	GRCh37	2	168099173	168099173	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM397T																					ENST00000409195.1:c.1271C>T	p.Ser424Leu	p.S424L	ENST00000409195	NM_152381.5	424	tCa/tTa	0	validated		probablydamaging	
XIRP2		inserm.fr	GRCh37	2	168100644	168100644	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1595T																					ENST00000409195.1:c.2742G>T	p.Trp914Cys	p.W914C	ENST00000409195	NM_152381.5	914	tgG/tgT	0	validated		probablydamaging	
XIRP2		inserm.fr	GRCh37	2	168102653	168102653	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1743T																					ENST00000409195.1:c.4751A>T	p.Lys1584Ile	p.K1584I	ENST00000409195	NM_152381.5	1584	aAa/aTa	0	not done		probablydamaging	
XIRP2		inserm.fr	GRCh37	2	168106530	168106530	+	synonymous_variant	Silent	SNP	C	T	T			CHC1148T																					ENST00000409195.1:c.8628C>T	p.Thr2876=	p.T2876=	ENST00000409195	NM_152381.5	2876	acC/acT	0	not done		synonymous	
XIRP2		inserm.fr	GRCh37	2	168108303	168108303	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1725T																					ENST00000409195.1:c.10401A>T	p.Leu3467Phe	p.L3467F	ENST00000409195	NM_152381.5	3467	ttA/ttT	0	not done		probablydamaging	
XIRP2		inserm.fr	GRCh37	2	168110664	168110664	+	3_prime_UTR_variant	3'UTR	SNP	C	T	T			CHC892T																					ENST00000409195.1:c.*28C>T		*10*	ENST00000409195	NM_152381.5			0	not done		synonymous	
XIRP2		inserm.fr	GRCh37	2	168115261	168115261	+	3_prime_UTR_variant	3'UTR	SNP	C	T	T			CHC892T																					ENST00000409195.1:c.*934C>T		*312*	ENST00000409195	NM_152381.5			0	not done		synonymous	
TSPAN13		inserm.fr	GRCh37	7	16816717	16816717	+	synonymous_variant	Silent	SNP	C	T	T			CHC884T																					ENST00000262067.4:c.282C>T	p.Cys94=	p.C94=	ENST00000262067	NM_014399.3	94	tgC/tgT	0	validated		synonymous	
MYO10		inserm.fr	GRCh37	5	16818206	16818206	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000513610.1:c.191G>A	p.Gly64Asp	p.G64D	ENST00000513610	NM_012334.2	64	gGc/gAc	0	not done		probablydamaging	
SLIT3		inserm.fr	GRCh37	5	168222515	168222515	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC896T																					ENST00000519560.1:c.1004G>A	p.Arg335Gln	p.R335Q	ENST00000519560	NM_003062.3	335	cGa/cAa	0	not done		probablydamaging	
PXDN		inserm.fr	GRCh37	2	1684127	1684127	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1775T																					ENST00000252804.4:c.568G>A	p.Asp190Asn	p.D190N	ENST00000252804	NM_012293.1	190	Gac/Aac	0	validated		probablydamaging	
TNFRSF13B		inserm.fr	GRCh37	17	16843751	16843751	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1591T																					ENST00000261652.2:c.520G>A	p.Val174Ile	p.V174I	ENST00000261652	NM_012452.2	174	Gtc/Atc	0	not done		benign	
KIF25		inserm.fr	GRCh37	6	168439273	168439273	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1185T																					ENST00000443060.2:c.358G>T	p.Val120Phe	p.V120F	ENST00000443060		120	Gtc/Ttc	0	not done		probablydamaging	
TXLNG		inserm.fr	GRCh37	X	16846230	16846230	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC879T																					ENST00000380122.5:c.512G>T	p.Arg171Met	p.R171M	ENST00000380122	NM_018360.2	171	aGg/aTg	0	not done		probablydamaging	
FRMD1		inserm.fr	GRCh37	6	168462557	168462557	+	synonymous_variant	Silent	SNP	G	T	T			CHC1035T																					ENST00000283309.6:c.975C>A	p.Arg325=	p.R325=	ENST00000283309	NM_024919.3	325	cgC/cgA	0	validated		synonymous	
B3GALT1		inserm.fr	GRCh37	2	168725600	168725600	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000392690.3:c.51C>T	p.Ala17=	p.A17=	ENST00000392690		17	gcC/gcT	0	not done		synonymous	
B3GALT1		inserm.fr	GRCh37	2	168725879	168725879	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000392690.3:c.330C>T	p.Ile110=	p.I110=	ENST00000392690		110	atC/atT	0	not done		synonymous	
PLEKHA7		inserm.fr	GRCh37	11	16877388	16877388	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1750T																					ENST00000355661.3:c.379G>A	p.Gly127Arg	p.G127R	ENST00000355661		127	Ggg/Agg	0	not done		probablydamaging	
MECOM		inserm.fr	GRCh37	3	168849320	168849320	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000264674.3:c.139-1G>A		p.X47_splice	ENST00000264674	NM_001105077.3			0	not done		damaging	
STK39		inserm.fr	GRCh37	2	168920023	168920023	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1603T																					ENST00000355999.4:c.1363G>A	p.Val455Ile	p.V455I	ENST00000355999	NM_013233.2	455	Gtt/Att	0	not done		possiblydamaging	
SMOC2		inserm.fr	GRCh37	6	169008887	169008887	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB325T																					ENST00000354536.5:c.908C>T	p.Ala303Val	p.A303V	ENST00000354536	NM_022138.2	303	gCc/gTc	0	validated		benign	
STK39		inserm.fr	GRCh37	2	169020374	169020374	+	synonymous_variant	Silent	SNP	G	T	T			CHC2110Tbis																					ENST00000355999.4:c.447C>A	p.Ile149=	p.I149=	ENST00000355999	NM_013233.2	149	atC/atA	0	validated		synonymous	
SPDL1		inserm.fr	GRCh37	5	169021448	169021448	+	synonymous_variant	Silent	SNP	C	T	T			BCM269T																					ENST00000265295.4:c.732C>T	p.Leu244=	p.L244=	ENST00000265295	NM_017785.4	244	ctC/ctT	0	validated		synonymous	
NWD1		inserm.fr	GRCh37	19	16902307	16902307	+	synonymous_variant	Silent	SNP	A	T	T			CHC433T																					ENST00000524140.2:c.3087A>T	p.Ser1029=	p.S1029=	ENST00000524140	NM_001007525.3	1029	tcA/tcT	0	validated		synonymous	
STK39		inserm.fr	GRCh37	2	169023889	169023889	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000355999.4:c.350G>A	p.Ser117Asn	p.S117N	ENST00000355999	NM_013233.2	117	aGc/aAc	0	not done		benign	
STK39		inserm.fr	GRCh37	2	169038513	169038513	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000355999.4:c.296G>A	p.Cys99Tyr	p.C99Y	ENST00000355999	NM_013233.2	99	tGc/tAc	0	not done		possiblydamaging	
DDX60		inserm.fr	GRCh37	4	169167759	169167759	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1744T																					ENST00000393743.3:c.3974G>A	p.Arg1325His	p.R1325H	ENST00000393743	NM_017631.5	1325	cGt/cAt	0	not done		probablydamaging	
EFHA2		inserm.fr	GRCh37	8	16921690	16921690	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2206T																					ENST00000318063.5:c.479A>T	p.Gln160Leu	p.Q160L	ENST00000318063	NM_181723.2	160	cAg/cTg	0	not done		probablydamaging	
DDX60L		inserm.fr	GRCh37	4	169299546	169299546	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000260184.7:c.4444G>A	p.Ala1482Thr	p.A1482T	ENST00000260184	NM_001012967.1	1482	Gca/Aca	0	not done		probablydamaging	
DDX60L		inserm.fr	GRCh37	4	169300549	169300549	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000260184.7:c.4328G>A	p.Gly1443Asp	p.G1443D	ENST00000260184	NM_001012967.1	1443	gGc/gAc	0	not done		probablydamaging	
DDX60L		inserm.fr	GRCh37	4	169300892	169300892	+	synonymous_variant	Silent	SNP	C	T	T			CHC2048T																					ENST00000260184.7:c.4206G>A	p.Gln1402=	p.Q1402=	ENST00000260184	NM_001012967.1	1402	caG/caA	0	not done		synonymous	
FAM196B		inserm.fr	GRCh37	5	169310899	169310899	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000377365.3:c.4G>A	p.Ala2Thr	p.A2T	ENST00000377365	NM_001129891.1	2	Gcc/Acc	0	not done		probablydamaging	
DDX60L		inserm.fr	GRCh37	4	169337867	169337867	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC609T									Valid												ENST00000260184.7:c.2692T>A	p.Ser898Thr	p.S898T	ENST00000260184	NM_001012967.1	898	Tca/Aca	0	validated		probablydamaging	
DDX60L		inserm.fr	GRCh37	4	169351628	169351628	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC1744T																					ENST00000260184.7:c.1677+1G>A		p.X559_splice	ENST00000260184	NM_001012967.1			0	not done		damaging	
DDX60L		inserm.fr	GRCh37	4	169383083	169383083	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000260184.7:c.373G>A	p.Gly125Arg	p.G125R	ENST00000260184	NM_001012967.1	125	Gga/Aga	0	not done		benign	
PALLD		inserm.fr	GRCh37	4	169432738	169432738	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000505667.1:c.83C>T	p.Pro28Leu	p.P28L	ENST00000505667		28	cCg/cTg	0	validated		probablydamaging	
DOCK2		inserm.fr	GRCh37	5	169474560	169474560	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC301T																					ENST00000256935.8:c.4013C>T	p.Pro1338Leu	p.P1338L	ENST00000256935	NM_004946.2	1338	cCc/cTc	0	validated		probablydamaging	
ACTRT3		inserm.fr	GRCh37	3	169485840	169485840	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC898T																					ENST00000330368.2:c.499G>A	p.Gly167Ser	p.G167S	ENST00000330368	NM_032487.4	167	Ggt/Agt	0	not done		probablydamaging	
DOCK2		inserm.fr	GRCh37	5	169507271	169507271	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000256935.8:c.5271C>T	p.Ser1757=	p.S1757=	ENST00000256935	NM_004946.2	1757	tcC/tcT	0	not done		synonymous	
DOCK2		inserm.fr	GRCh37	5	169509833	169509833	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2048T																					ENST00000256935.8:c.5464A>T	p.Ile1822Phe	p.I1822F	ENST00000256935	NM_004946.2	1822	Atc/Ttc	0	not done		benign	
FOXI1		inserm.fr	GRCh37	5	169533037	169533037	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM321T									Valid												ENST00000306268.6:c.76C>T	p.Pro26Ser	p.P26S	ENST00000306268		26	Ccc/Tcc	0	validated		probablydamaging	
FOXI1		inserm.fr	GRCh37	5	169535220	169535220	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000306268.6:c.742C>T	p.Pro248Ser	p.P248S	ENST00000306268		248	Cct/Tct	0	not done		benign	
CERS6		inserm.fr	GRCh37	2	169547548	169547548	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2052T																					ENST00000392687.4:c.470C>T	p.Pro157Leu	p.P157L	ENST00000392687	NM_001256126.1	157	cCc/cTc	0	not done		probablydamaging	
CUBN		inserm.fr	GRCh37	10	16957080	16957080	+	synonymous_variant	Silent	SNP	G	T	T			CHC1186T																					ENST00000377833.4:c.7302C>A	p.Gly2434=	p.G2434=	ENST00000377833	NM_001081.3	2434	ggC/ggA	0	validated		synonymous	
CUBN		inserm.fr	GRCh37	10	16957911	16957911	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1035T									Valid												ENST00000377833.4:c.7119C>A	p.His2373Gln	p.H2373Q	ENST00000377833	NM_001081.3	2373	caC/caA	0	validated		probablydamaging	
PALLD		inserm.fr	GRCh37	4	169632982	169632982	+	synonymous_variant	Silent	SNP	C	T	T			CHC923T																					ENST00000505667.1:c.1872C>T	p.Asn624=	p.N624=	ENST00000505667		624	aaC/aaT	0	not done		synonymous	
THBS2		inserm.fr	GRCh37	6	169642017	169642017	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1736T																					ENST00000366787.3:c.731T>A	p.Leu244Gln	p.L244Q	ENST00000366787	NM_003247.2	244	cTg/cAg	0	not done		probablydamaging	
SAMD7		inserm.fr	GRCh37	3	169656192	169656192	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000428432.2:c.1239C>T	p.Ser413=	p.S413=	ENST00000428432	NM_182610.2	413	tcC/tcT	0	not done		synonymous	
NOSTRIN		inserm.fr	GRCh37	2	169687992	169687992	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM501T																					ENST00000444448.2:c.353A>T	p.Glu118Val	p.E118V	ENST00000444448		118	gAa/gTa	0	validated		possiblydamaging	
LCP2		inserm.fr	GRCh37	5	169689747	169689747	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000046794.5:c.819-1G>A		p.X273_splice	ENST00000046794	NM_005565.3			0	not done		damaging	
NOSTRIN		inserm.fr	GRCh37	2	169707451	169707451	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000444448.2:c.736C>T	p.Pro246Ser	p.P246S	ENST00000444448		246	Cca/Tca	0	not done			
KCNMB1		inserm.fr	GRCh37	5	169812439	169812439	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM483T									Valid												ENST00000274629.4:c.13C>A	p.Leu5Met	p.L5M	ENST00000274629	NM_004137.3	5	Ctg/Atg	0	validated		probablydamaging	
ABCB11		inserm.fr	GRCh37	2	169814520	169814520	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM399T									Valid												ENST00000263817.6:c.2297G>A	p.Gly766Glu	p.G766E	ENST00000263817	NM_003742.2	766	gGg/gAg	0	validated		probablydamaging	
KIFAP3		inserm.fr	GRCh37	1	169890881	169890881	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361580.2:c.2315G>A	p.Gly772Glu	p.G772E	ENST00000361580	NM_014970.3	772	gGa/gAa	0	not done		benign	
CUBN		inserm.fr	GRCh37	10	16990547	16990547	+	synonymous_variant	Silent	SNP	C	T	T			CHC1754T																					ENST00000377833.4:c.5139G>A	p.Thr1713=	p.T1713=	ENST00000377833	NM_001081.3	1713	acG/acA	0	not done		synonymous	
CBR4		inserm.fr	GRCh37	4	169923258	169923258	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000306193.3:c.499G>A	p.Ala167Thr	p.A167T	ENST00000306193	NM_032783.4	167	Gca/Aca	0	not done		probablydamaging	
LRP2		inserm.fr	GRCh37	2	170022531	170022531	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1040T																					ENST00000263816.3:c.11669G>A	p.Arg3890Gln	p.R3890Q	ENST00000263816	NM_004525.2	3890	cGg/cAg	0	not done		probablydamaging	
LRP2		inserm.fr	GRCh37	2	170031805	170031805	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC361TA									Valid												ENST00000263816.3:c.10666G>A	p.Gly3556Arg	p.G3556R	ENST00000263816	NM_004525.2	3556	Gga/Aga	0	validated		probablydamaging	
SH3RF1		inserm.fr	GRCh37	4	170038801	170038801	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000284637.9:c.1650G>A	p.Gly550=	p.G550=	ENST00000284637	NM_020870.3	550	ggG/ggA	0	not done		synonymous	
LRP2		inserm.fr	GRCh37	2	170042141	170042141	+	synonymous_variant	Silent	SNP	C	T	T			BCM783T																					ENST00000263816.3:c.9717G>A	p.Lys3239=	p.K3239=	ENST00000263816	NM_004525.2	3239	aaG/aaA	0	validated		synonymous	
LRP2		inserm.fr	GRCh37	2	170062018	170062018	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000263816.3:c.7686G>A	p.Glu2562=	p.E2562=	ENST00000263816	NM_004525.2	2562	gaG/gaA	0	not done		synonymous	
LRP2		inserm.fr	GRCh37	2	170062101	170062101	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000263816.3:c.7603G>A	p.Ala2535Thr	p.A2535T	ENST00000263816	NM_004525.2	2535	Gcc/Acc	0	not done		probablydamaging	
LRP2		inserm.fr	GRCh37	2	170097634	170097634	+	synonymous_variant	Silent	SNP	C	T	T			CHC304T																					ENST00000263816.3:c.3909G>A	p.Lys1303=	p.K1303=	ENST00000263816	NM_004525.2	1303	aaG/aaA	0	validated		synonymous	
NTMT2		inserm.fr	GRCh37	1	170115335	170115335	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000439373.2:c.87C>T	p.Ile29=	p.I29=	ENST00000439373	NM_001136107.1	29	atC/atT	0	not done		synonymous	
LRP2		inserm.fr	GRCh37	2	170150679	170150679	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000263816.3:c.631G>A	p.Gly211Ser	p.G211S	ENST00000263816	NM_004525.2	211	Ggc/Agc	0	not done		possiblydamaging	
SLC7A14		inserm.fr	GRCh37	3	170198625	170198625	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000231706.5:c.1446G>A	p.Gly482=	p.G482=	ENST00000231706	NM_020949.2	482	ggG/ggA	0	not done		synonymous	
SLC7A14		inserm.fr	GRCh37	3	170198830	170198830	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000231706.5:c.1241G>A	p.Gly414Asp	p.G414D	ENST00000231706	NM_020949.2	414	gGc/gAc	0	not done		probablydamaging	
GABRP		inserm.fr	GRCh37	5	170222260	170222260	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000518525.1:c.289C>T	p.Leu97=	p.L97=	ENST00000518525		97	Ctg/Ttg	0	not done		synonymous	
CUBN		inserm.fr	GRCh37	10	17024540	17024540	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1010T																					ENST00000377833.4:c.4638T>A	p.His1546Gln	p.H1546Q	ENST00000377833	NM_001081.3	1546	caT/caA	0	not done		probablydamaging	
CPAMD8		inserm.fr	GRCh37	19	17025536	17025536	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1611T																					ENST00000443236.1:c.3858G>A	p.Trp1286Ter	p.W1286*	ENST00000443236	NM_015692.2	1286	tgG/tgA	0	not done		damaging	
NEK1		inserm.fr	GRCh37	4	170398395	170398395	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000507142.1:c.2314G>A	p.Ala772Thr	p.A772T	ENST00000507142	NM_001199397.1	772	Gcc/Acc	0	not done		benign	
NEK1		inserm.fr	GRCh37	4	170482654	170482654	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000507142.1:c.1243G>A	p.Ala415Thr	p.A415T	ENST00000507142	NM_001199397.1	415	Gct/Act	0	not done		benign	
PPIG		inserm.fr	GRCh37	2	170493926	170493926	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC736T									Valid												ENST00000260970.3:c.2158A>T	p.Lys720Ter	p.K720*	ENST00000260970	NM_004792.2	720	Aaa/Taa	0	validated		damaging	
DLL1		inserm.fr	GRCh37	6	170592542	170592542	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1209T																					ENST00000366756.3:c.1825G>A	p.Ala609Thr	p.A609T	ENST00000366756	NM_005618.3	609	Gcc/Acc	0	not done		probablydamaging	
DLL1		inserm.fr	GRCh37	6	170594345	170594345	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC2358T																					ENST00000366756.3:c.1029C>A	p.Cys343Ter	p.C343*	ENST00000366756	NM_005618.3	343	tgC/tgA	0	validated		damaging	
DLL1		inserm.fr	GRCh37	6	170598756	170598756	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000366756.3:c.195G>A	p.Lys65=	p.K65=	ENST00000366756	NM_005618.3	65	aaG/aaA	0	not done		synonymous	
PRRX1		inserm.fr	GRCh37	1	170689013	170689013	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1774T																					ENST00000239461.6:c.388C>T	p.Arg130Trp	p.R130W	ENST00000239461	NM_022716.2	130	Cgg/Tgg	0	validated		probablydamaging	
UBR3		inserm.fr	GRCh37	2	170732450	170732450	+	synonymous_variant	Silent	SNP	C	T	T			CHC1708T																					ENST00000418381.1:c.835C>T	p.Leu279=	p.L279=	ENST00000418381	NM_172070.3	279	Ctg/Ttg	0	not done		synonymous	
UBR3		inserm.fr	GRCh37	2	170785353	170785353	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1626T																					ENST00000418381.1:c.2541G>T	p.Met847Ile	p.M847I	ENST00000418381	NM_172070.3	847	atG/atT	0	not done		possiblydamaging	
MPRIP		inserm.fr	GRCh37	17	17078646	17078646	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM711T																					ENST00000395811.5:c.2629C>T	p.Arg877Trp	p.R877W	ENST00000395811	NM_015134.3	877	Cgg/Tgg	0	validated		probablydamaging	
CUBN		inserm.fr	GRCh37	10	17088049	17088049	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2048T																					ENST00000377833.4:c.3374G>A	p.Gly1125Asp	p.G1125D	ENST00000377833	NM_001081.3	1125	gGc/gAc	0	not done		probablydamaging	
PLCL2		inserm.fr	GRCh37	3	17109474	17109474	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1704T																					ENST00000418129.2:c.2743A>T	p.Ser915Cys	p.S915C	ENST00000418129	NM_001144382.1	915	Agc/Tgc	0	not done		possiblydamaging	
CUBN		inserm.fr	GRCh37	10	17110689	17110689	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000377833.4:c.2706G>A	p.Val902=	p.V902=	ENST00000377833	NM_001081.3	902	gtG/gtA	0	not done		synonymous	
CUBN		inserm.fr	GRCh37	10	17113521	17113521	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000377833.4:c.2529G>A	p.Arg843=	p.R843=	ENST00000377833	NM_001081.3	843	agG/agA	0	not done		synonymous	
CPAMD8		inserm.fr	GRCh37	19	17132868	17132868	+	synonymous_variant	Silent	SNP	C	T	T			CHC1060T																					ENST00000443236.1:c.357G>A	p.Pro119=	p.P119=	ENST00000443236	NM_015692.2	119	ccG/ccA	0	validated		synonymous	
CNTLN		inserm.fr	GRCh37	9	17135205	17135205	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1751T																					ENST00000380647.3:c.142G>T	p.Val48Leu	p.V48L	ENST00000380647		48	Gtg/Ttg	0	not done		benign	
STK10		inserm.fr	GRCh37	5	171484373	171484373	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1720T																					ENST00000176763.5:c.2317C>A	p.Leu773Met	p.L773M	ENST00000176763	NM_005990.3	773	Ctg/Atg	0	validated		probablydamaging	
CUBN		inserm.fr	GRCh37	10	17153015	17153015	+	synonymous_variant	Silent	SNP	G	T	T			CHC798T																					ENST00000377833.4:c.918C>A	p.Ile306=	p.I306=	ENST00000377833	NM_001081.3	306	atC/atA	0	validated		synonymous	
PIK3C2A		inserm.fr	GRCh37	11	17156523	17156523	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC909T																					ENST00000265970.7:c.1951G>A	p.Ala651Thr	p.A651T	ENST00000265970	NM_002645.2	651	Gca/Aca	0	not done		probablydamaging	
EFCAB9		inserm.fr	GRCh37	5	171630344	171630344	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC2351T																					ENST00000398186.4:c.589A>T	p.Lys197Ter	p.K197*	ENST00000398186	NM_001171183.1	197	Aag/Tag	0	not done		damaging	
UBTD2		inserm.fr	GRCh37	5	171661125	171661125	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000393792.2:c.307+1G>A		p.X103_splice	ENST00000393792	NM_152277.2			0	not done		damaging	
PIK3C2A		inserm.fr	GRCh37	11	17169073	17169073	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000265970.7:c.1551G>A	p.Leu517=	p.L517=	ENST00000265970	NM_002645.2	517	ctG/ctA	0	not done		synonymous	
SH3PXD2B		inserm.fr	GRCh37	5	171765670	171765670	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000311601.5:c.2439G>A	p.Gly813=	p.G813=	ENST00000311601	NM_001017995.2	813	ggG/ggA	0	not done		synonymous	
KRTAP5-6		inserm.fr	GRCh37	11	1718820	1718820	+	synonymous_variant	Silent	SNP	C	T	T			BCM695T																					ENST00000382160.1:c.345C>T	p.Ser115=	p.S115=	ENST00000382160	NM_001012416.1	115	tcC/tcT	0	validated		synonymous	
FNDC3B		inserm.fr	GRCh37	3	171944669	171944669	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1186T																					ENST00000336824.4:c.196G>T	p.Glu66Ter	p.E66*	ENST00000336824	NM_001135095.1	66	Gaa/Taa	0	not done		damaging	
DNM3		inserm.fr	GRCh37	1	172007568	172007568	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1154T																					ENST00000358155.4:c.959A>T	p.Glu320Val	p.E320V	ENST00000358155	NM_015569.4	320	gAa/gTa	0	not done		benign	
TMEM129		inserm.fr	GRCh37	4	1720163	1720163	+	synonymous_variant	Silent	SNP	G	T	T			CHC1055T																					ENST00000382936.3:c.396C>A	p.Ala132=	p.A132=	ENST00000382936	NM_001127266.1	132	gcC/gcA	0	validated		synonymous	
TMEM129		inserm.fr	GRCh37	4	1720352	1720352	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	T	T			CHC2039Tbis																					ENST00000382936.3:c.207C>A	p.Gly69=	p.G69=	ENST00000382936	NM_001127266.1	69	ggC/ggA	0	validated		damaging	
DUSP1		inserm.fr	GRCh37	5	172195846	172195846	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC121T									Valid												ENST00000239223.3:c.1023C>A	p.Phe341Leu	p.F341L	ENST00000239223	NM_004417.3	341	ttC/ttA	0	validated		probablydamaging	
XYLT1		inserm.fr	GRCh37	16	17228423	17228423	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261381.6:c.1934G>A	p.Ser645Asn	p.S645N	ENST00000261381	NM_022166.3	645	aGc/aAc	0	not done		probablydamaging	
XYLT1		inserm.fr	GRCh37	16	17228593	17228593	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000261381.6:c.1765-1G>A		p.X589_splice	ENST00000261381	NM_022166.3			0	not done		damaging	
NCEH1		inserm.fr	GRCh37	3	172365693	172365693	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000538775.1:c.446G>A	p.Trp149Ter	p.W149*	ENST00000538775	NM_001146276.1	149	tGg/tAg	0	not done		damaging	
CYBRD1		inserm.fr	GRCh37	2	172409907	172409907	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC306T									Valid												ENST00000321348.4:c.454C>T	p.Arg152Ter	p.R152*	ENST00000321348	NM_024843.3	152	Cga/Tga	0	validated		damaging	
VIM		inserm.fr	GRCh37	10	17271855	17271855	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1598T																					ENST00000544301.1:c.434G>T	p.Arg145Leu	p.R145L	ENST00000544301	NM_003380.3	145	cGc/cTc	0	not done		probablydamaging	
STC2		inserm.fr	GRCh37	5	172750412	172750412	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265087.4:c.316G>A	p.Ala106Thr	p.A106T	ENST00000265087	NM_003714.2	106	Gcc/Acc	0	not done		possiblydamaging	
BASP1		inserm.fr	GRCh37	5	17275651	17275651	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000322611.3:c.326C>T	p.Ala109Val	p.A109V	ENST00000322611	NM_006317.4	109	gCg/gTg	0	not done		probablydamaging	
BASP1		inserm.fr	GRCh37	5	17275820	17275820	+	synonymous_variant	Silent	SNP	C	T	T			CHC1531T																					ENST00000322611.3:c.495C>T	p.Asp165=	p.D165=	ENST00000322611	NM_006317.4	165	gaC/gaT	0	not done		synonymous	
BASP1		inserm.fr	GRCh37	5	17275959	17275959	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB167T																					ENST00000322611.3:c.634G>T	p.Val212Leu	p.V212L	ENST00000322611	NM_006317.4	212	Gtg/Ttg	0	validated		benign	
MYO9B		inserm.fr	GRCh37	19	17306230	17306230	+	synonymous_variant	Silent	SNP	C	T	T			CHC1744T																					ENST00000595618.1:c.3994C>T	p.Leu1332=	p.L1332=	ENST00000595618	NM_001130065.1	1332	Ctg/Ttg	0	not done		synonymous	
ATP13A2		inserm.fr	GRCh37	1	17320244	17320244	+	synonymous_variant	Silent	SNP	A	T	T			CHC205T																					ENST00000326735.8:c.1629T>A	p.Pro543=	p.P543=	ENST00000326735		543	ccT/ccA	0	validated		synonymous	
ATP13A2		inserm.fr	GRCh37	1	17322881	17322881	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000326735.8:c.1306G>A	p.Ala436Thr	p.A436T	ENST00000326735		436	Gct/Act	0	not done		probablydamaging	
ATP13A2		inserm.fr	GRCh37	1	17326772	17326772	+	synonymous_variant	Silent	SNP	G	T	T			CHC313T																					ENST00000326735.8:c.876C>A	p.Ser292=	p.S292=	ENST00000326735		292	tcC/tcA	0	validated		synonymous	
ITGA6		inserm.fr	GRCh37	2	173292636	173292636	+	synonymous_variant	Silent	SNP	C	T	T			CHC433T																					ENST00000409080.1:c.120C>T	p.Pro40=	p.P40=	ENST00000409080	NM_001079818.1	40	ccC/ccT	0	validated		synonymous	
CPEB4		inserm.fr	GRCh37	5	173316816	173316816	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC912T									Valid												ENST00000265085.5:c.80A>T	p.His27Leu	p.H27L	ENST00000265085	NM_030627.2	27	cAt/cTt	0	validated		probablydamaging	
NLGN1		inserm.fr	GRCh37	3	173322470	173322470	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000457714.1:c.82C>T	p.Pro28Ser	p.P28S	ENST00000457714	NM_014932.3	28	Cca/Tca	0	not done		benign	
AHR		inserm.fr	GRCh37	7	17338941	17338941	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1743T																					ENST00000242057.4:c.53C>T	p.Pro18Leu	p.P18L	ENST00000242057	NM_001621.4	18	cCg/cTg	0	not done		probablydamaging	
C5orf47		inserm.fr	GRCh37	5	173416452	173416452	+	synonymous_variant	Silent	SNP	C	T	T			BCB307T																					ENST00000340147.6:c.186C>T	p.Gly62=	p.G62=	ENST00000340147	NM_001144954.1	62	ggC/ggT	0	validated		synonymous	
SLC9C2		inserm.fr	GRCh37	1	173490487	173490487	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000367714.3:c.2692G>A	p.Gly898Ser	p.G898S	ENST00000367714	NM_178527.3	898	Ggt/Agt	0	not done		probablydamaging	
XYLT1		inserm.fr	GRCh37	16	17353115	17353115	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1186T																					ENST00000261381.6:c.643G>A	p.Glu215Lys	p.E215K	ENST00000261381	NM_022166.3	215	Gag/Aag	0	not done		probablydamaging	
LOC730159		inserm.fr	GRCh37	1	173606108	173606108	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC892T																					ENST00000417563.1:n.216C>T		*72*	ENST00000417563				0	not done			
AHR		inserm.fr	GRCh37	7	17370486	17370486	+	synonymous_variant	Silent	SNP	G	T	T			CHC2206T																					ENST00000242057.4:c.681G>T	p.Leu227=	p.L227=	ENST00000242057	NM_001621.4	227	ctG/ctT	0	not done		synonymous	
GALNTL6		inserm.fr	GRCh37	4	173803975	173803975	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC301T									Valid												ENST00000506823.1:c.958G>T	p.Asp320Tyr	p.D320Y	ENST00000506823	NM_001034845.2	320	Gat/Tat	0	validated		probablydamaging	
RC3H1		inserm.fr	GRCh37	1	173931174	173931174	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1629T																					ENST00000367696.2:c.1891G>A	p.Ala631Thr	p.A631T	ENST00000367696		631	Gct/Act	0	not done		benign	
NLGN1		inserm.fr	GRCh37	3	173993220	173993220	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC304T									Valid												ENST00000457714.1:c.762A>T	p.Arg254Ser	p.R254S	ENST00000457714	NM_014932.3	254	agA/agT	0	validated		probablydamaging	
PADI2		inserm.fr	GRCh37	1	17411118	17411118	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2052T																					ENST00000375486.4:c.914C>A	p.Pro305His	p.P305H	ENST00000375486	NM_007365.2	305	cCt/cAt	0	not done		possiblydamaging	
TACC3		inserm.fr	GRCh37	4	1741437	1741437	+	synonymous_variant	Silent	SNP	G	T	T			CHC327T																					ENST00000313288.4:c.1950G>T	p.Ala650=	p.A650=	ENST00000313288	NM_006342.2	650	gcG/gcT	0	validated		synonymous	
MSX2		inserm.fr	GRCh37	5	174152025	174152025	+	synonymous_variant	Silent	SNP	A	T	T			CHC1207T																					ENST00000239243.6:c.363A>T	p.Arg121=	p.R121=	ENST00000239243	NM_002449.4	121	cgA/cgT	0	not done		synonymous	
CDCA7		inserm.fr	GRCh37	2	174223563	174223563	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	T	T			CHC1708T																					ENST00000306721.3:c.145A>T	p.Thr49Ser	p.T49S	ENST00000306721	NM_031942.4	49	Acg/Tcg	0	not done		possiblydamaging	
PADI2		inserm.fr	GRCh37	1	17422440	17422440	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1040T																					ENST00000375486.4:c.375C>A	p.Asp125Glu	p.D125E	ENST00000375486	NM_007365.2	125	gaC/gaA	0	not done		possiblydamaging	
HMGB2		inserm.fr	GRCh37	4	174254302	174254302	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1207T																					ENST00000296503.5:c.214G>A	p.Asp72Asn	p.D72N	ENST00000296503		72	Gac/Aac	0	not done		benign	
ABCC8		inserm.fr	GRCh37	11	17434248	17434248	+	synonymous_variant	Silent	SNP	G	T	T			CHC306T																					ENST00000389817.3:c.2521C>A	p.Arg841=	p.R841=	ENST00000389817		841	Cga/Aga	0	validated		synonymous	
GAB4		inserm.fr	GRCh37	22	17443757	17443757	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000400588.1:c.1591G>A	p.Gly531Ser	p.G531S	ENST00000400588	NM_001037814.1	531	Ggc/Agc	0	not done		benign	
GAB4		inserm.fr	GRCh37	22	17444661	17444661	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000400588.1:c.1535G>A	p.Ser512Asn	p.S512N	ENST00000400588	NM_001037814.1	512	aGc/aAc	0	not done		possiblydamaging	
HAND2		inserm.fr	GRCh37	4	174450243	174450243	+	synonymous_variant	Silent	SNP	G	T	T			BCM723T																					ENST00000359562.4:c.198C>A	p.Pro66=	p.P66=	ENST00000359562	NM_021973.2	66	ccC/ccA	0	validated		synonymous	
GAB4		inserm.fr	GRCh37	22	17449246	17449246	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000400588.1:c.965G>A	p.Gly322Asp	p.G322D	ENST00000400588	NM_001037814.1	322	gGt/gAt	0	not done		probablydamaging	
GAB4		inserm.fr	GRCh37	22	17472768	17472768	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000400588.1:c.473G>A	p.Ser158Asn	p.S158N	ENST00000400588	NM_001037814.1	158	aGc/aAc	0	not done		benign	
PXDN		inserm.fr	GRCh37	2	1748150	1748150	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000252804.4:c.78C>A	p.Ala26=	p.A26=	ENST00000252804	NM_012293.1	26	gcC/gcA	0	validated		synonymous	
ABCC8		inserm.fr	GRCh37	11	17485128	17485128	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000389817.3:c.436G>A	p.Ala146Thr	p.A146T	ENST00000389817		146	Gcc/Acc	0	not done		possiblydamaging	
DRD1		inserm.fr	GRCh37	5	174868887	174868887	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000393752.2:c.1216G>A	p.Ala406Thr	p.A406T	ENST00000393752	NM_000794.3	406	Gca/Aca	0	not done		benign	
PDGFRL		inserm.fr	GRCh37	8	17491615	17491615	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1209T																					ENST00000541323.1:c.832G>T	p.Ala278Ser	p.A278S	ENST00000541323	NM_006207.2	278	Gct/Tct	0	validated		probablydamaging	
TNN		inserm.fr	GRCh37	1	175067618	175067618	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1743T																					ENST00000239462.4:c.2006A>T	p.Glu669Val	p.E669V	ENST00000239462	NM_022093.1	669	gAg/gTg	0	not done		possiblydamaging	
HRH2		inserm.fr	GRCh37	5	175110805	175110805	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000377291.2:c.569C>T	p.Thr190Ile	p.T190I	ENST00000377291	NM_001131055.1	190	aCc/aTc	0	not done		possiblydamaging	
SP9		inserm.fr	GRCh37	2	175201455	175201455	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1741T																					ENST00000595354.1:c.697G>A	p.Val233Met	p.V233M	ENST00000595354		233	Gtg/Atg	0	not done		synonymous	
SP9		inserm.fr	GRCh37	2	175201734	175201734	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1162T																					ENST00000595354.1:c.418G>A	p.Gly140Ser	p.G140S	ENST00000595354		140	Ggt/Agt	0	validated		synonymous	
USH1C		inserm.fr	GRCh37	11	17527481	17527481	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1756T																					ENST00000005226.7:c.2029C>A	p.Pro677Thr	p.P677T	ENST00000005226	NM_153676.3	677	Cca/Aca	0	not done		probablydamaging	
GPR155		inserm.fr	GRCh37	2	175300919	175300919	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC313T																					ENST00000392552.2:c.2538T>A	p.Asn846Lys	p.N846K	ENST00000392552	NM_152529.6	846	aaT/aaA	0	validated		benign	
CPLX2		inserm.fr	GRCh37	5	175306020	175306020	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1192T																					ENST00000359546.4:c.141G>T	p.Glu47Asp	p.E47D	ENST00000359546	NM_006650.3	47	gaG/gaT	0	validated		possiblydamaging	
TNR		inserm.fr	GRCh37	1	175331871	175331871	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC614T																					ENST00000367674.2:c.2782G>A	p.Glu928Lys	p.E928K	ENST00000367674		928	Gaa/Aaa	0	validated		benign	
CAP2		inserm.fr	GRCh37	6	17541225	17541225	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2103T																					ENST00000229922.2:c.848A>T	p.Asp283Val	p.D283V	ENST00000229922	NM_006366.2	283	gAc/gTc	0	not done		possiblydamaging	
WNT5B		inserm.fr	GRCh37	12	1754991	1754991	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC437T																					ENST00000397196.2:c.653A>T	p.Lys218Ile	p.K218I	ENST00000397196	NM_032642.2	218	aAa/aTa	0	not done		probablydamaging	
NAALADL2		inserm.fr	GRCh37	3	175520964	175520964	+	synonymous_variant	Silent	SNP	C	T	T			CHC1602T																					ENST00000454872.1:c.2361C>T	p.Phe787=	p.F787=	ENST00000454872	NM_207015.2	787	ttC/ttT	0	not done		synonymous	
OTOG		inserm.fr	GRCh37	11	17581138	17581138	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000399391.2:c.1307C>T	p.Ala436Val	p.A436V	ENST00000399391	NM_001277269.1	436	gCc/gTc	0	not done			
ADAM29		inserm.fr	GRCh37	4	175897296	175897296	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1749T																					ENST00000359240.3:c.620A>T	p.Asp207Val	p.D207V	ENST00000359240	NM_014269.4	207	gAt/gTt	0	not done		probablydamaging	
OTOG		inserm.fr	GRCh37	11	17591825	17591825	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC909T																					ENST00000399391.2:c.1879G>T	p.Val627Leu	p.V627L	ENST00000399391	NM_001277269.1	627	Gtg/Ttg	0	not done			
PADI3		inserm.fr	GRCh37	1	17593310	17593310	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375460.3:c.505C>T	p.Gln169Ter	p.Q169*	ENST00000375460	NM_016233.2	169	Cag/Tag	0	not done		damaging	
RNF44		inserm.fr	GRCh37	5	175956360	175956360	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1763T																					ENST00000274811.4:c.1165G>A	p.Ala389Thr	p.A389T	ENST00000274811	NM_014901.4	389	Gcg/Acg	0	not done		benign	
SLC27A1		inserm.fr	GRCh37	19	17597696	17597696	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000252595.7:c.492C>T	p.Arg164=	p.R164=	ENST00000252595	NM_198580.1	164	cgC/cgT	0	validated		synonymous	
RRBP1		inserm.fr	GRCh37	20	17601395	17601395	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000377807.2:c.2173G>A	p.Ala725Thr	p.A725T	ENST00000377807	NM_001042576.1	725	Gcc/Acc	0	not done		benign	
GPRIN1		inserm.fr	GRCh37	5	176024425	176024425	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1744T																					ENST00000303991.4:c.2411C>A	p.Ala804Asp	p.A804D	ENST00000303991	NM_052899.2	804	gCc/gAc	0	not done		probablydamaging	
GPRIN1		inserm.fr	GRCh37	5	176025011	176025011	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC429T									Valid												ENST00000303991.4:c.1825C>A	p.Leu609Met	p.L609M	ENST00000303991	NM_052899.2	609	Ctg/Atg	0	validated		probablydamaging	
PADI3		inserm.fr	GRCh37	1	17607183	17607183	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000375460.3:c.1653C>T	p.Asn551=	p.N551=	ENST00000375460	NM_016233.2	551	aaC/aaT	0	not done		synonymous	
EIF4E1B		inserm.fr	GRCh37	5	176072503	176072503	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000318682.6:c.600C>T	p.Gly200=	p.G200=	ENST00000318682	NM_001099408.1	200	ggC/ggT	0	validated		synonymous	
TSPAN17		inserm.fr	GRCh37	5	176081903	176081903	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T									Valid												ENST00000310032.8:c.464G>T	p.Cys155Phe	p.C155F	ENST00000310032	NM_012171.2	155	tGc/tTc	0	validated		probablydamaging	
OTOG		inserm.fr	GRCh37	11	17618545	17618545	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2141T																					ENST00000399391.2:c.3709C>T	p.Arg1237Cys	p.R1237C	ENST00000399391	NM_001277269.1	1237	Cgc/Tgc	0	validated			
CECR5		inserm.fr	GRCh37	22	17622117	17622117	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC320T									Valid												ENST00000336737.4:c.578T>A	p.Leu193His	p.L193H	ENST00000336737	NM_033070.2	193	cTc/cAc	0	validated		probablydamaging	
OTOG		inserm.fr	GRCh37	11	17629938	17629938	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000399391.2:c.4288G>T	p.Ala1430Ser	p.A1430S	ENST00000399391	NM_001277269.1	1430	Gcc/Tcc	0	not done			
OTOG		inserm.fr	GRCh37	11	17630710	17630710	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000399391.2:c.4344C>T	p.Pro1448=	p.P1448=	ENST00000399391	NM_001277269.1	1448	ccC/ccT	0	not done		synonymous	
HK3		inserm.fr	GRCh37	5	176315482	176315482	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000292432.5:c.1155G>A	p.Gln385=	p.Q385=	ENST00000292432	NM_002115.2	385	caG/caA	0	not done		synonymous	
HK3		inserm.fr	GRCh37	5	176315791	176315791	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000292432.5:c.989G>A	p.Gly330Glu	p.G330E	ENST00000292432	NM_002115.2	330	gGg/gAg	0	not done		benign	
HK3		inserm.fr	GRCh37	5	176317646	176317646	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000292432.5:c.620G>A	p.Arg207Gln	p.R207Q	ENST00000292432	NM_002115.2	207	cGg/cAg	0	not done		benign	
HK3		inserm.fr	GRCh37	5	176318448	176318448	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000292432.5:c.200G>A	p.Ser67Asn	p.S67N	ENST00000292432	NM_002115.2	67	aGc/aAc	0	not done		benign	
OTOG		inserm.fr	GRCh37	11	17631898	17631898	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000399391.2:c.5087C>T	p.Pro1696Leu	p.P1696L	ENST00000399391	NM_001277269.1	1696	cCc/cTc	0	not done			
UIMC1		inserm.fr	GRCh37	5	176335625	176335625	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC909T																					ENST00000377227.4:c.1747C>A	p.Leu583Ile	p.L583I	ENST00000377227		583	Ctc/Atc	0	not done		probablydamaging	
FAM129C		inserm.fr	GRCh37	19	17649993	17649993	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000335393.4:c.723C>T	p.Ala241=	p.A241=	ENST00000335393	NM_173544.4	241	gcC/gcT	0	not done		synonymous	
FGFR4		inserm.fr	GRCh37	5	176519332	176519332	+	synonymous_variant	Silent	SNP	G	T	T			CHC1754T																					ENST00000292408.4:c.738G>T	p.Pro246=	p.P246=	ENST00000292408	NM_213647.1	246	ccG/ccT	0	not done		synonymous	
FGFR4		inserm.fr	GRCh37	5	176522675	176522675	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1611T																					ENST00000292408.4:c.1772C>T	p.Ser591Phe	p.S591F	ENST00000292408	NM_213647.1	591	tCc/tTc	0	not done		probablydamaging	
PADI4		inserm.fr	GRCh37	1	17666223	17666223	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000375448.4:c.567C>T	p.Thr189=	p.T189=	ENST00000375448	NM_012387.2	189	acC/acT	0	not done		synonymous	
GPM6A		inserm.fr	GRCh37	4	176733364	176733364	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM337T																					ENST00000280187.7:c.15G>A	p.Met5Ile	p.M5I	ENST00000280187	NM_005277.4	5	atG/atA	0	validated		benign	
LMAN2		inserm.fr	GRCh37	5	176759160	176759160	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000303127.7:c.998G>A	p.Gly333Asp	p.G333D	ENST00000303127	NM_006816.2	333	gGc/gAc	0	not done		probablydamaging	
PAPPA2		inserm.fr	GRCh37	1	176760588	176760588	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1763T																					ENST00000367662.3:c.4990G>T	p.Glu1664Ter	p.E1664*	ENST00000367662	NM_020318.2	1664	Gag/Tag	0	not done		damaging	
TBL1XR1		inserm.fr	GRCh37	3	176765120	176765120	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC614T									Valid												ENST00000430069.1:c.832G>A	p.Gly278Arg	p.G278R	ENST00000430069		278	Gga/Aga	0	validated		probablydamaging	
GRK6		inserm.fr	GRCh37	5	176863077	176863077	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC898T																					ENST00000528793.1:c.1061C>T	p.Pro354Leu	p.P354L	ENST00000528793		354	cCg/cTg	0	not done		probablydamaging	
PDLIM7		inserm.fr	GRCh37	5	176910902	176910902	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000355841.2:c.1253G>A	p.Gly418Asp	p.G418D	ENST00000355841	NM_005451.4	418	gGc/gAc	0	not done		probablydamaging	
ASTN1		inserm.fr	GRCh37	1	176913029	176913029	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1736T																					ENST00000361833.2:c.2375C>A	p.Thr792Asn	p.T792N	ENST00000361833		792	aCt/aAt	0	not done		probablydamaging	
DDX41		inserm.fr	GRCh37	5	176942704	176942704	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC917T																					ENST00000507955.1:c.553G>A	p.Glu185Lys	p.E185K	ENST00000507955	NM_016222.2	185	Gaa/Aaa	0	validated		possiblydamaging	
EVX2		inserm.fr	GRCh37	2	176945329	176945329	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000308618.4:c.937G>A	p.Ala313Thr	p.A313T	ENST00000308618	NM_001080458.1	313	Gct/Act	0	validated		benign	
EVX2		inserm.fr	GRCh37	2	176947054	176947054	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000308618.4:c.551G>A	p.Gly184Asp	p.G184D	ENST00000308618	NM_001080458.1	184	gGc/gAc	0	not done		possiblydamaging	
FAM193B		inserm.fr	GRCh37	5	176951689	176951689	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC2034T																					ENST00000514747.1:c.1793G>A	p.Trp598Ter	p.W598*	ENST00000514747	NM_001190946.1	598	tGg/tAg	0	not done		damaging	
HOXD12		inserm.fr	GRCh37	2	176965272	176965272	+	synonymous_variant	Silent	SNP	G	T	T			CHC434T																					ENST00000406506.2:c.597G>T	p.Pro199=	p.P199=	ENST00000406506		199	ccG/ccT	0	validated		synonymous	
HOXD10		inserm.fr	GRCh37	2	176981856	176981856	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000249501.4:c.295C>T	p.Pro99Ser	p.P99S	ENST00000249501	NM_002148.3	99	Ccc/Tcc	0	not done		benign	
HOXD10		inserm.fr	GRCh37	2	176981980	176981980	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000249501.4:c.419C>T	p.Pro140Leu	p.P140L	ENST00000249501	NM_002148.3	140	cCc/cTc	0	not done		benign	
HOXD9		inserm.fr	GRCh37	2	176988054	176988054	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000249499.6:c.558C>T	p.Ser186=	p.S186=	ENST00000249499	NM_014213.3	186	tcC/tcT	0	not done		synonymous	
RAD51AP2		inserm.fr	GRCh37	2	17698822	17698822	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000399080.2:c.861G>A	p.Glu287=	p.E287=	ENST00000399080	NM_001099218.2	287	gaG/gaA	0	not done		synonymous	
HOXD4		inserm.fr	GRCh37	2	177016460	177016460	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000306324.3:c.99C>T	p.Gly33=	p.G33=	ENST00000306324	NM_014621.2	33	ggC/ggT	0	not done		synonymous	
HOXD4		inserm.fr	GRCh37	2	177016581	177016581	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000306324.3:c.220C>T	p.Pro74Ser	p.P74S	ENST00000306324	NM_014621.2	74	Cct/Tct	0	not done		benign	
B4GALT7		inserm.fr	GRCh37	5	177035944	177035944	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1749T																					ENST00000029410.5:c.757A>T	p.Lys253Ter	p.K253*	ENST00000029410	NM_007255.2	253	Aag/Tag	0	not done		damaging	
HOXD3		inserm.fr	GRCh37	2	177036525	177036525	+	synonymous_variant	Silent	SNP	C	T	T			CHC197T																					ENST00000468418.3:c.822C>T	p.Gly274=	p.G274=	ENST00000468418		274	ggC/ggT	0	validated		synonymous	
HOXD3		inserm.fr	GRCh37	2	177036803	177036803	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000468418.3:c.1100C>T	p.Ala367Val	p.A367V	ENST00000468418		367	gCg/gTg	0	not done		benign	
HOXD1		inserm.fr	GRCh37	2	177054610	177054610	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM489T																					ENST00000331462.4:c.727G>T	p.Glu243Ter	p.E243*	ENST00000331462	NM_024501.2	243	Gaa/Taa	0	validated		damaging	
WDR17		inserm.fr	GRCh37	4	177083301	177083301	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000280190.4:c.2898C>T	p.Cys966=	p.C966=	ENST00000280190		966	tgC/tgT	0	not done		synonymous	
FAM184B		inserm.fr	GRCh37	4	17710766	17710766	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265018.3:c.643G>A	p.Ala215Thr	p.A215T	ENST00000265018	NM_015688.1	215	Gcc/Acc	0	not done		probablydamaging	
SPATA4		inserm.fr	GRCh37	4	177113944	177113944	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000280191.2:c.522G>A	p.Met174Ile	p.M174I	ENST00000280191	NM_144644.2	174	atG/atA	0	not done		benign	
SPATA4		inserm.fr	GRCh37	4	177114645	177114645	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2200T																					ENST00000280191.2:c.307T>A	p.Ser103Thr	p.S103T	ENST00000280191	NM_144644.2	103	Tct/Act	0	not done		probablydamaging	
MTX2		inserm.fr	GRCh37	2	177202382	177202382	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC892T																					ENST00000249442.6:c.782G>T	p.Arg261Met	p.R261M	ENST00000249442	NM_006554.4	261	aGg/aTg	0	not done		benign	
FAM5B		inserm.fr	GRCh37	1	177226421	177226421	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000361539.4:c.570C>T	p.Ser190=	p.S190=	ENST00000361539	NM_021165.2	190	tcC/tcT	0	not done		synonymous	
SREBF1		inserm.fr	GRCh37	17	17723522	17723522	+	synonymous_variant	Silent	SNP	G	T	T			CHC320T																					ENST00000355815.4:c.495C>A	p.Pro165=	p.P165=	ENST00000355815	NM_001005291.2	165	ccC/ccA	0	validated		synonymous	
FAM5B		inserm.fr	GRCh37	1	177249840	177249840	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361539.4:c.1528C>T	p.Gln510Ter	p.Q510*	ENST00000361539	NM_021165.2	510	Cag/Tag	0	not done		damaging	
NHS		inserm.fr	GRCh37	X	17742490	17742490	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCM723T																					ENST00000380060.3:c.1117C>T	p.Arg373Ter	p.R373*	ENST00000380060	NM_198270.2	373	Cga/Tga	0	validated		damaging	
MYOD1		inserm.fr	GRCh37	11	17742864	17742864	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000250003.3:c.772C>T	p.Arg258Cys	p.R258C	ENST00000250003	NM_002478.4	258	Cgc/Tgc	0	not done		probablydamaging	
UNC13A		inserm.fr	GRCh37	19	17743607	17743607	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000519716.2:c.3412G>A	p.Val1138Met	p.V1138M	ENST00000519716	NM_001080421.2	1138	Gtg/Atg	0	not done		probablydamaging	
UNC13A		inserm.fr	GRCh37	19	17743713	17743713	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1152T																					ENST00000519716.2:c.3306C>A	p.His1102Gln	p.H1102Q	ENST00000519716	NM_001080421.2	1102	caC/caA	0	not done		probablydamaging	
NHS		inserm.fr	GRCh37	X	17744527	17744527	+	synonymous_variant	Silent	SNP	A	T	T			CHC1756T																					ENST00000380060.3:c.2238A>T	p.Pro746=	p.P746=	ENST00000380060	NM_198270.2	746	ccA/ccT	0	not done		synonymous	
NHS		inserm.fr	GRCh37	X	17744599	17744599	+	synonymous_variant	Silent	SNP	C	T	T			CHC1148T																					ENST00000380060.3:c.2310C>T	p.Asp770=	p.D770=	ENST00000380060	NM_198270.2	770	gaC/gaT	0	not done		synonymous	
NHS		inserm.fr	GRCh37	X	17744729	17744729	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCM275T									Valid												ENST00000380060.3:c.2440C>T	p.Gln814Ter	p.Q814*	ENST00000380060	NM_198270.2	814	Cag/Tag	0	validated		damaging	
NHS		inserm.fr	GRCh37	X	17745113	17745113	+	synonymous_variant	Silent	SNP	C	T	T			CHC1545T																					ENST00000380060.3:c.2824C>T	p.Leu942=	p.L942=	ENST00000380060	NM_198270.2	942	Cta/Tta	0	not done		synonymous	
UNC13A		inserm.fr	GRCh37	19	17746868	17746868	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000519716.2:c.3180G>A	p.Glu1060=	p.E1060=	ENST00000519716	NM_001080421.2	1060	gaG/gaA	0	not done		synonymous	
FAM153C		inserm.fr	GRCh37	5	177468739	177468739	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC798T									Valid												ENST00000507848.1:c.179C>T	p.Ser60Phe	p.S60F	ENST00000507848		60	tCt/tTt	0	validated		probablydamaging	
UNC13A		inserm.fr	GRCh37	19	17752229	17752229	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000519716.2:c.2609G>A	p.Gly870Asp	p.G870D	ENST00000519716	NM_001080421.2	870	gGc/gAc	0	not done		probablydamaging	
UNC13A		inserm.fr	GRCh37	19	17758301	17758301	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000519716.2:c.1817G>A	p.Arg606Gln	p.R606Q	ENST00000519716	NM_001080421.2	606	cGg/cAg	0	not done		probablydamaging	
VEGFC		inserm.fr	GRCh37	4	177608500	177608500	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1629T																					ENST00000280193.2:c.986G>A	p.Gly329Glu	p.G329E	ENST00000280193	NM_005429.3	329	gGg/gAg	0	not done		probablydamaging	
SEC16B		inserm.fr	GRCh37	1	177936937	177936937	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000308284.6:c.180G>A	p.Gln60=	p.Q60=	ENST00000308284	NM_033127.2	60	caG/caA	0	not done		synonymous	
DCAF16		inserm.fr	GRCh37	4	17805675	17805675	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000382247.1:c.90G>A	p.Gly30=	p.G30=	ENST00000382247	NM_017741.3	30	ggG/ggA	0	not done		synonymous	
PCM1		inserm.fr	GRCh37	8	17812996	17812996	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000325083.8:c.1306G>T	p.Val436Phe	p.V436F	ENST00000325083	NM_006197.3	436	Gtc/Ttc	0	not done		possiblydamaging	
ZNF354A		inserm.fr	GRCh37	5	178139172	178139172	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000335815.2:c.1707G>A	p.Gln569=	p.Q569=	ENST00000335815	NM_005649.2	569	caG/caA	0	not done		synonymous	
RAI2		inserm.fr	GRCh37	X	17819979	17819979	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC218T																					ENST00000545871.1:c.152T>A	p.Val51Glu	p.V51E	ENST00000545871	NM_001172739.1	51	gTg/gAg	0	validated		probablydamaging	
ATP8B3		inserm.fr	GRCh37	19	1783249	1783249	+	synonymous_variant	Silent	SNP	G	T	T			CHC1742T																					ENST00000310127.6:c.3681C>A	p.Gly1227=	p.G1227=	ENST00000310127	NM_138813.3	1227	ggC/ggA	0	not done		synonymous	
ZFP2		inserm.fr	GRCh37	5	178359602	178359602	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1715T																					ENST00000361362.2:c.1288A>T	p.Arg430Ter	p.R430*	ENST00000361362	NM_030613.2	430	Aga/Tga	0	not done		damaging	
ZFP2		inserm.fr	GRCh37	5	178359675	178359675	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1185T																					ENST00000361362.2:c.1361C>T	p.Thr454Ile	p.T454I	ENST00000361362	NM_030613.2	454	aCa/aTa	0	not done		benign	
ZNF454		inserm.fr	GRCh37	5	178391832	178391832	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC896T																					ENST00000320129.3:c.427A>T	p.Thr143Ser	p.T143S	ENST00000320129	NM_182594.2	143	Act/Tct	0	not done		benign	
GRM6		inserm.fr	GRCh37	5	178417617	178417617	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC703T																					ENST00000231188.5:c.988C>A	p.Leu330Met	p.L330M	ENST00000231188	NM_000843.3	330	Ctg/Atg	0	validated		probablydamaging	
GRM6		inserm.fr	GRCh37	5	178417618	178417618	+	synonymous_variant	Silent	SNP	G	T	T			CHC703T																					ENST00000231188.5:c.987C>A	p.Ile329=	p.I329=	ENST00000231188	NM_000843.3	329	atC/atA	0	not done		synonymous	
ATP8B3		inserm.fr	GRCh37	19	1784872	1784872	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1743T																					ENST00000310127.6:c.3606C>A	p.Phe1202Leu	p.F1202L	ENST00000310127	NM_138813.3	1202	ttC/ttA	0	not done		benign	
TEX35		inserm.fr	GRCh37	1	178494555	178494555	+	downstream_gene_variant	3'Flank	SNP	C	T	T			CHC892T																								ENST00000319416	NM_032126.4			0	not done		synonymous	
ELFN1		inserm.fr	GRCh37	7	1786056	1786056	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1209T																					ENST00000424383.2:c.1824G>T	p.Lys608Asn	p.K608N	ENST00000424383		608	aaG/aaT	0	not done		possiblydamaging	
ZMAT3		inserm.fr	GRCh37	3	178745243	178745243	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1749T																					ENST00000311417.2:c.626G>A	p.Arg209Lys	p.R209K	ENST00000311417	NM_022470.3	209	aGg/aAg	0	not done		probablydamaging	
ADAMTS2		inserm.fr	GRCh37	5	178770915	178770915	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000251582.7:c.387C>A	p.Arg129=	p.R129=	ENST00000251582	NM_014244.4	129	cgC/cgA	0	not done		synonymous	
RALGPS2		inserm.fr	GRCh37	1	178855213	178855213	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1741T																					ENST00000367635.3:c.1150G>T	p.Gly384Cys	p.G384C	ENST00000367635	NM_152663.3	384	Ggc/Tgc	0	not done		benign	
RALGPS2		inserm.fr	GRCh37	1	178863068	178863068	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCB301T																					ENST00000367635.3:c.1340A>T	p.Glu447Val	p.E447V	ENST00000367635	NM_152663.3	447	gAa/gTa	0	validated		benign	
LRRC48		inserm.fr	GRCh37	17	17887243	17887243	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000313838.8:c.262C>T	p.His88Tyr	p.H88Y	ENST00000313838	NM_001130090.1	88	Cac/Tac	0	not done		benign	
LOC285501		inserm.fr	GRCh37	4	178911651	178911651	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2351T																					ENST00000507870.1:c.319G>T	p.Val107Leu	p.V107L	ENST00000507870		107	Gtg/Ttg	0	not done			
FCHO1		inserm.fr	GRCh37	19	17892301	17892301	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000594202.1:c.1781C>T	p.Ala594Val	p.A594V	ENST00000594202	NM_001161357.1	594	gCc/gTc	0	not done		benign	
PDE11A		inserm.fr	GRCh37	2	178936799	178936799	+	synonymous_variant	Silent	SNP	C	T	T			CHC703T																					ENST00000286063.6:c.366G>A	p.Arg122=	p.R122=	ENST00000286063	NM_016953.3	122	agG/agA	0	not done		synonymous	
FCHO1		inserm.fr	GRCh37	19	17898525	17898525	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000594202.1:c.2517C>T	p.Leu839=	p.L839=	ENST00000594202	NM_001161357.1	839	ctC/ctT	0	not done		synonymous	
RUFY1		inserm.fr	GRCh37	5	179021866	179021866	+	splice_acceptor_variant	Splice_Site	SNP	G	T	T			CHC2127T																					ENST00000319449.4:c.1414-1G>T		p.X472_splice	ENST00000319449	NM_025158.4			0	not done		damaging	
OSBPL6		inserm.fr	GRCh37	2	179196333	179196333	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC361TA									Valid												ENST00000392505.2:c.372+1G>T		p.X124_splice	ENST00000392505	NM_001201480.1			0	validated		damaging	
OSBPL6		inserm.fr	GRCh37	2	179214110	179214110	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1595T																					ENST00000392505.2:c.1222C>T	p.Gln408Ter	p.Q408*	ENST00000392505	NM_001201480.1	408	Cag/Tag	0	validated		damaging	
MGAT4B		inserm.fr	GRCh37	5	179228995	179228995	+	synonymous_variant	Silent	SNP	G	T	T			BCM399T																					ENST00000337755.5:c.117C>A	p.Leu39=	p.L39=	ENST00000337755	NM_054013.3	39	ctC/ctA	0	validated		synonymous	
MGAT4B		inserm.fr	GRCh37	5	179233504	179233504	+	upstream_gene_variant	5'Flank	SNP	G	T	T			CHC1545T																								ENST00000337755	NM_054013.3			0	validated		benign	
SQSTM1		inserm.fr	GRCh37	5	179250969	179250969	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB111T																					ENST00000389805.4:c.413C>T	p.Thr138Ile	p.T138I	ENST00000389805	NM_003900.4	138	aCc/aTc	0	validated		benign	
SNX5		inserm.fr	GRCh37	20	17934671	17934671	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1725T																					ENST00000377768.3:c.358G>A	p.Glu120Lys	p.E120K	ENST00000377768	NM_152227.1	120	Gaa/Aaa	0	not done		probablydamaging	
AXDND1		inserm.fr	GRCh37	1	179351877	179351877	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1186T																					ENST00000367618.3:c.624G>T	p.Leu208Phe	p.L208F	ENST00000367618	NM_144696.5	208	ttG/ttT	0	validated		probablydamaging	
AXDND1		inserm.fr	GRCh37	1	179401456	179401456	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T																					ENST00000367618.3:c.1542A>T	p.Leu514Phe	p.L514F	ENST00000367618	NM_144696.5	514	ttA/ttT	0	validated		possiblydamaging	
JAK3		inserm.fr	GRCh37	19	17941311	17941311	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC2048T																					ENST00000458235.1:c.3096+1G>A		p.X1032_splice	ENST00000458235	NM_000215.3			0	not done		damaging	
TTN		inserm.fr	GRCh37	2	179424748	179424748	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1568T																					ENST00000589042.1:c.86111G>A	p.Ser28704Asn	p.S28704N	ENST00000589042	NM_001267550.1	28704	aGc/aAc	0	not done		benign	
TTN		inserm.fr	GRCh37	2	179430186	179430186	+	synonymous_variant	Silent	SNP	G	T	T			CHC1053T																					ENST00000589042.1:c.80673C>A	p.Ile26891=	p.I26891=	ENST00000589042	NM_001267550.1	26891	atC/atA	0	validated		synonymous	
TTN		inserm.fr	GRCh37	2	179434504	179434504	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1205T																					ENST00000589042.1:c.76355G>A	p.Trp25452Ter	p.W25452*	ENST00000589042	NM_001267550.1	25452	tGg/tAg	0	not done		damaging	
JAK3		inserm.fr	GRCh37	19	17943694	17943694	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1545T																					ENST00000458235.1:c.2395C>A	p.Arg799Ser	p.R799S	ENST00000458235	NM_000215.3	799	Cgt/Agt	0	validated		benign	
AXDND1		inserm.fr	GRCh37	1	179437661	179437661	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC798T																					ENST00000367618.3:c.1882C>T	p.Pro628Ser	p.P628S	ENST00000367618	NM_144696.5	628	Cct/Tct	0	validated		benign	
TTN		inserm.fr	GRCh37	2	179441520	179441520	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM567T																					ENST00000589042.1:c.69451G>A	p.Val23151Ile	p.V23151I	ENST00000589042	NM_001267550.1	23151	Gtc/Atc	0	validated		benign	
TTN		inserm.fr	GRCh37	2	179452507	179452507	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB307T									Valid												ENST00000589042.1:c.63529G>A	p.Asp21177Asn	p.D21177N	ENST00000589042	NM_001267550.1	21177	Gat/Aat	0	validated		probablydamaging	
TTN		inserm.fr	GRCh37	2	179453546	179453546	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC889T																					ENST00000589042.1:c.62906C>A	p.Pro20969His	p.P20969H	ENST00000589042	NM_001267550.1	20969	cCc/cAc	0	not done		probablydamaging	
TTN		inserm.fr	GRCh37	2	179454889	179454889	+	synonymous_variant	Silent	SNP	C	T	T			CHC218T																					ENST00000589042.1:c.61563G>A	p.Lys20521=	p.K20521=	ENST00000589042	NM_001267550.1	20521	aaG/aaA	0	not done		synonymous	
TTN		inserm.fr	GRCh37	2	179456827	179456827	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000589042.1:c.59804G>A	p.Ser19935Asn	p.S19935N	ENST00000589042	NM_001267550.1	19935	aGt/aAt	0	not done		probablydamaging	
TTN		inserm.fr	GRCh37	2	179460470	179460470	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM337T																					ENST00000589042.1:c.57611C>A	p.Thr19204Lys	p.T19204K	ENST00000589042	NM_001267550.1	19204	aCa/aAa	0	validated		probablydamaging	
TTN		inserm.fr	GRCh37	2	179464332	179464332	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1545T																					ENST00000589042.1:c.56296G>A	p.Ala18766Thr	p.A18766T	ENST00000589042	NM_001267550.1	18766	Gct/Act	0	not done		probablydamaging	
TTN		inserm.fr	GRCh37	2	179468804	179468804	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2052T																					ENST00000589042.1:c.54610G>A	p.Glu18204Lys	p.E18204K	ENST00000589042	NM_001267550.1	18204	Gag/Aag	0	not done		benign	
TTN		inserm.fr	GRCh37	2	179471798	179471798	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000589042.1:c.53531G>A	p.Gly17844Asp	p.G17844D	ENST00000589042	NM_001267550.1	17844	gGc/gAc	0	not done		probablydamaging	
TTN		inserm.fr	GRCh37	2	179473013	179473013	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC909T																					ENST00000589042.1:c.52597G>A	p.Gly17533Ser	p.G17533S	ENST00000589042	NM_001267550.1	17533	Ggc/Agc	0	not done		probablydamaging	
TTN		inserm.fr	GRCh37	2	179475023	179475023	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC902T																					ENST00000589042.1:c.51230C>A	p.Thr17077Asn	p.T17077N	ENST00000589042	NM_001267550.1	17077	aCc/aAc	0	not done		benign	
TTN		inserm.fr	GRCh37	2	179502113	179502113	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1624T																					ENST00000589042.1:c.40910C>A	p.Pro13637Gln	p.P13637Q	ENST00000589042	NM_001267550.1	13637	cCa/cAa	0	validated		possiblydamaging	
JAK3		inserm.fr	GRCh37	19	17950326	17950326	+	synonymous_variant	Silent	SNP	C	T	T			CHC798T																					ENST00000458235.1:c.1401G>A	p.Val467=	p.V467=	ENST00000458235	NM_000215.3	467	gtG/gtA	0	validated		synonymous	
TTN		inserm.fr	GRCh37	2	179512146	179512146	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1598T																					ENST00000589042.1:c.40103T>A	p.Val13368Glu	p.V13368E	ENST00000589042	NM_001267550.1	13368	gTg/gAg	0	not done		benign	
NPHS2		inserm.fr	GRCh37	1	179526176	179526176	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB109T									Valid												ENST00000367615.4:c.724G>A	p.Ala242Thr	p.A242T	ENST00000367615	NM_014625.2	242	Gcc/Acc	0	validated		probablydamaging	
TTN		inserm.fr	GRCh37	2	179532422	179532422	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1594T																					ENST00000589042.1:c.35572C>A	p.Leu11858Ile	p.L11858I	ENST00000589042	NM_001267550.1	11858	Cta/Ata	0	not done			
TTN		inserm.fr	GRCh37	2	179545032	179545032	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000589042.1:c.33367G>A	p.Ala11123Thr	p.A11123T	ENST00000589042	NM_001267550.1	11123	Gca/Aca	0	not done		benign	
TDRD5		inserm.fr	GRCh37	1	179562718	179562718	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM759T																					ENST00000444136.1:c.356G>T	p.Arg119Leu	p.R119L	ENST00000444136	NM_001199089.1	119	cGg/cTg	0	validated		probablydamaging	
TTN		inserm.fr	GRCh37	2	179577688	179577688	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000589042.1:c.27064G>A	p.Val9022Ile	p.V9022I	ENST00000589042	NM_001267550.1	9022	Gtt/Att	0	not done		benign	
TTN		inserm.fr	GRCh37	2	179583566	179583566	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1602T																					ENST00000589042.1:c.24361G>A	p.Gly8121Arg	p.G8121R	ENST00000589042	NM_001267550.1	8121	Ggg/Agg	0	not done		probablydamaging	
TTN		inserm.fr	GRCh37	2	179584174	179584174	+	synonymous_variant	Silent	SNP	C	T	T			CHC1148T																					ENST00000589042.1:c.23943G>A	p.Arg7981=	p.R7981=	ENST00000589042	NM_001267550.1	7981	cgG/cgA	0	not done		synonymous	
TTN		inserm.fr	GRCh37	2	179591859	179591859	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM723T																					ENST00000589042.1:c.20233C>A	p.Pro6745Thr	p.P6745T	ENST00000589042	NM_001267550.1	6745	Ccc/Acc	0	validated		possiblydamaging	
TTN		inserm.fr	GRCh37	2	179596265	179596265	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM567T																					ENST00000589042.1:c.17228G>A	p.Arg5743Gln	p.R5743Q	ENST00000589042	NM_001267550.1	5743	cGg/cAg	0	validated		benign	
TTN		inserm.fr	GRCh37	2	179597819	179597819	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1746T																					ENST00000589042.1:c.16084C>A	p.Pro5362Thr	p.P5362T	ENST00000589042	NM_001267550.1	5362	Ccc/Acc	0	not done		possiblydamaging	
TTN		inserm.fr	GRCh37	2	179598559	179598559	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1741T																					ENST00000589042.1:c.15557C>A	p.Thr5186Asn	p.T5186N	ENST00000589042	NM_001267550.1	5186	aCc/aAc	0	not done		possiblydamaging	
TTN		inserm.fr	GRCh37	2	179604849	179604849	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM321T																					ENST00000589042.1:c.13111G>A	p.Glu4371Lys	p.E4371K	ENST00000589042	NM_001267550.1	4371	Gag/Aag	0	validated			
TTN		inserm.fr	GRCh37	2	179606444	179606444	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC703T																					ENST00000589042.1:c.11516T>A	p.Leu3839Gln	p.L3839Q	ENST00000589042	NM_001267550.1	3839	cTg/cAg	0	validated			
TTN		inserm.fr	GRCh37	2	179611649	179611649	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000589042.1:c.11312-5001G>A		*3771*	ENST00000589042	NM_001267550.1			0	not done			
TTN		inserm.fr	GRCh37	2	179615246	179615246	+	intron_variant	Intron	SNP	A	T	T			CHC1545T																					ENST00000589042.1:c.11311+2605T>A		*3771*	ENST00000589042	NM_001267550.1			0	not done			
TTN		inserm.fr	GRCh37	2	179616417	179616417	+	intron_variant	Intron	SNP	G	T	T			CHC1192T																					ENST00000589042.1:c.11311+1434C>A		*3771*	ENST00000589042	NM_001267550.1			0	not done		synonymous	
TTN		inserm.fr	GRCh37	2	179623733	179623733	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2215T																					ENST00000589042.1:c.10281C>A	p.Ser3427Arg	p.S3427R	ENST00000589042	NM_001267550.1	3427	agC/agA	0	not done		probablydamaging	
TTN		inserm.fr	GRCh37	2	179628938	179628938	+	synonymous_variant	Silent	SNP	C	T	T			CHC1743T																					ENST00000589042.1:c.10080G>A	p.Gln3360=	p.Q3360=	ENST00000589042	NM_001267550.1	3360	caG/caA	0	not done		synonymous	
TTN		inserm.fr	GRCh37	2	179641578	179641578	+	synonymous_variant	Silent	SNP	C	T	T			CHC1568T																					ENST00000589042.1:c.5013G>A	p.Glu1671=	p.E1671=	ENST00000589042	NM_001267550.1	1671	gaG/gaA	0	not done		synonymous	
TTN		inserm.fr	GRCh37	2	179643985	179643985	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2103T																					ENST00000589042.1:c.3934T>A	p.Cys1312Ser	p.C1312S	ENST00000589042	NM_001267550.1	1312	Tgc/Agc	0	not done		probablydamaging	
TTN		inserm.fr	GRCh37	2	179647626	179647626	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1052T																					ENST00000589042.1:c.3007C>A	p.Arg1003Ser	p.R1003S	ENST00000589042	NM_001267550.1	1003	Cgc/Agc	0	validated		probablydamaging	
TTN		inserm.fr	GRCh37	2	179654216	179654216	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000589042.1:c.1947G>A	p.Lys649=	p.K649=	ENST00000589042	NM_001267550.1	649	aaG/aaA	0	not done		synonymous	
TTN		inserm.fr	GRCh37	2	179658217	179658217	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1749T																					ENST00000589042.1:c.1450G>A	p.Asp484Asn	p.D484N	ENST00000589042	NM_001267550.1	484	Gat/Aat	0	not done		benign	
CCDC141		inserm.fr	GRCh37	2	179698925	179698925	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM339T																					ENST00000420890.2:c.4568T>A	p.Leu1523Gln	p.L1523Q	ENST00000420890	NM_173648.3	1523	cTa/cAa	0	validated			
CCDC141		inserm.fr	GRCh37	2	179702247	179702247	+	synonymous_variant	Silent	SNP	C	T	T			BCM257T																					ENST00000420890.2:c.3699G>A	p.Glu1233=	p.E1233=	ENST00000420890	NM_173648.3	1233	gaG/gaA	0	validated		synonymous	
GFPT2		inserm.fr	GRCh37	5	179745792	179745792	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC1616T																					ENST00000253778.8:c.958+1G>A		p.X320_splice	ENST00000253778	NM_005110.2			0	not done		possiblydamaging	
FAM163A		inserm.fr	GRCh37	1	179782262	179782262	+	synonymous_variant	Silent	SNP	C	T	T			CHC1183T																					ENST00000341785.4:c.30C>T	p.Gly10=	p.G10=	ENST00000341785	NM_173509.2	10	ggC/ggT	0	not done		synonymous	
SLC5A5		inserm.fr	GRCh37	19	17983479	17983479	+	synonymous_variant	Silent	SNP	C	T	T			CHC923T																					ENST00000222248.3:c.351C>T	p.Thr117=	p.T117=	ENST00000222248	NM_000453.2	117	acC/acT	0	not done		synonymous	
ATP8B3		inserm.fr	GRCh37	19	1800412	1800412	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000310127.6:c.1189G>A	p.Ala397Thr	p.A397T	ENST00000310127	NM_138813.3	397	Gcc/Acc	0	not done		benign	
FLT4		inserm.fr	GRCh37	5	180046028	180046028	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2215T																					ENST00000261937.6:c.2843C>A	p.Pro948His	p.P948H	ENST00000261937	NM_182925.4	948	cCc/cAc	0	validated		possiblydamaging	
FLT4		inserm.fr	GRCh37	5	180048546	180048546	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000261937.6:c.2016G>A	p.Val672=	p.V672=	ENST00000261937	NM_182925.4	672	gtG/gtA	0	not done		synonymous	
FLT4		inserm.fr	GRCh37	5	180048667	180048667	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC614T																					ENST00000261937.6:c.1895G>A	p.Arg632His	p.R632H	ENST00000261937	NM_182925.4	632	cGc/cAc	0	validated		probablydamaging	
FLT4		inserm.fr	GRCh37	5	180052879	180052879	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1060T																					ENST00000261937.6:c.1411C>A	p.Gln471Lys	p.Q471K	ENST00000261937	NM_182925.4	471	Cag/Aag	0	validated		benign	
FLT4		inserm.fr	GRCh37	5	180056403	180056403	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261937.6:c.841G>A	p.Glu281Lys	p.E281K	ENST00000261937	NM_182925.4	281	Gag/Aag	0	not done		benign	
QSOX1		inserm.fr	GRCh37	1	180165747	180165747	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000367602.3:c.1819C>T	p.Pro607Ser	p.P607S	ENST00000367602		607	Ccg/Tcg	0	not done		benign	
OR2Y1		inserm.fr	GRCh37	5	180166123	180166123	+	stop_retained_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000307832.2:c.936G>A	p.Ter312=	p.*312=	ENST00000307832	NM_001001657.1	312	taG/taA	0	not done		damaging	
SERGEF		inserm.fr	GRCh37	11	18017434	18017434	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265965.5:c.531G>A	p.Trp177Ter	p.W177*	ENST00000265965	NM_012139.2	177	tgG/tgA	0	not done		damaging	
SERGEF		inserm.fr	GRCh37	11	18017435	18017435	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265965.5:c.530G>A	p.Trp177Ter	p.W177*	ENST00000265965	NM_012139.2	177	tGg/tAg	0	not done		damaging	
ARHGEF10L		inserm.fr	GRCh37	1	18021773	18021773	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC434T									Valid												ENST00000361221.3:c.3305C>T	p.Thr1102Ile	p.T1102I	ENST00000361221	NM_018125.3	1102	aCa/aTa	0	validated		probablydamaging	
MYO15A		inserm.fr	GRCh37	17	18023972	18023972	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1185T																					ENST00000205890.5:c.1858G>T	p.Glu620Ter	p.E620*	ENST00000205890	NM_016239.3	620	Gag/Tag	0	not done		damaging	
LHX4		inserm.fr	GRCh37	1	180243474	180243474	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000263726.2:c.933C>T	p.Pro311=	p.P311=	ENST00000263726	NM_033343.3	311	ccC/ccT	0	not done		synonymous	
MYO15A		inserm.fr	GRCh37	17	18024492	18024492	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC889T																					ENST00000205890.5:c.2378C>T	p.Ala793Val	p.A793V	ENST00000205890	NM_016239.3	793	gCg/gTg	0	validated		possiblydamaging	
MYO15A		inserm.fr	GRCh37	17	18025165	18025165	+	synonymous_variant	Silent	SNP	C	T	T			CHC2216T																					ENST00000205890.5:c.3051C>T	p.Thr1017=	p.T1017=	ENST00000205890	NM_016239.3	1017	acC/acT	0	not done		synonymous	
CECR2		inserm.fr	GRCh37	22	18028160	18028160	+	synonymous_variant	Silent	SNP	A	T	T			CHC1715T																					ENST00000262608.8:c.3120A>T	p.Ala1040=	p.A1040=	ENST00000262608	NM_031413.3	1040	gcA/gcT	0	not done		synonymous	
FGFR3		inserm.fr	GRCh37	4	1803463	1803463	+	synonymous_variant	Silent	SNP	C	T	T			CHC1591T																					ENST00000260795.2:c.732C>T	p.Asp244=	p.D244=	ENST00000260795		244	gaC/gaT	0	not done		synonymous	
CCDC39		inserm.fr	GRCh37	3	180359859	180359859	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1597T																					ENST00000442201.2:c.1796G>A	p.Arg599Gln	p.R599Q	ENST00000442201	NM_181426.1	599	cGa/cAa	0	not done		probablydamaging	
BTNL8		inserm.fr	GRCh37	5	180374596	180374596	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB157T									Valid												ENST00000340184.4:c.758G>T	p.Gly253Val	p.G253V	ENST00000340184	NM_001040462.2	253	gGa/gTa	0	validated		probablydamaging	
BTNL8		inserm.fr	GRCh37	5	180376999	180376999	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC451T																					ENST00000340184.4:c.958C>T	p.His320Tyr	p.H320Y	ENST00000340184	NM_001040462.2	320	Cac/Tac	0	validated		benign	
BTNL8		inserm.fr	GRCh37	5	180377361	180377361	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000340184.4:c.1320G>T	p.Leu440Phe	p.L440F	ENST00000340184	NM_001040462.2	440	ttG/ttT	0	not done		probablydamaging	
BTNL9		inserm.fr	GRCh37	5	180475118	180475118	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB111T									Valid												ENST00000327705.9:c.301C>T	p.Arg101Trp	p.R101W	ENST00000327705	NM_152547.4	101	Cgg/Tgg	0	validated		probablydamaging	
BTNL9		inserm.fr	GRCh37	5	180477216	180477216	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000327705.9:c.583C>T	p.Pro195Ser	p.P195S	ENST00000327705	NM_152547.4	195	Cct/Tct	0	not done		benign	
BTNL9		inserm.fr	GRCh37	5	180477289	180477289	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000327705.9:c.656C>T	p.Ala219Val	p.A219V	ENST00000327705	NM_152547.4	219	gCg/gTg	0	not done		benign	
BTNL9		inserm.fr	GRCh37	5	180486339	180486339	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2052T																					ENST00000327705.9:c.1085G>T	p.Gly362Val	p.G362V	ENST00000327705	NM_152547.4	362	gGc/gTc	0	not done		benign	
BTNL9		inserm.fr	GRCh37	5	180486724	180486724	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000327705.9:c.1470C>T	p.Ala490=	p.A490=	ENST00000327705	NM_152547.4	490	gcC/gcT	0	not done		synonymous	
MYO15A		inserm.fr	GRCh37	17	18055241	18055241	+	synonymous_variant	Silent	SNP	C	T	T			CHC1626T																					ENST00000205890.5:c.7869C>T	p.His2623=	p.H2623=	ENST00000205890	NM_016239.3	2623	caC/caT	0	not done		synonymous	
MYO15A		inserm.fr	GRCh37	17	18055449	18055449	+	synonymous_variant	Silent	SNP	G	T	T			CHC1205T																					ENST00000205890.5:c.7917G>T	p.Leu2639=	p.L2639=	ENST00000205890	NM_016239.3	2639	ctG/ctT	0	validated		synonymous	
OR2V2		inserm.fr	GRCh37	5	180582107	180582107	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000328275.1:c.165C>T	p.His55=	p.H55=	ENST00000328275	NM_206880.1	55	caC/caT	0	not done		synonymous	
ATP8B3		inserm.fr	GRCh37	19	1806150	1806150	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000310127.6:c.696G>A	p.Trp232Ter	p.W232*	ENST00000310127	NM_138813.3	232	tgG/tgA	0	not done		damaging	
TRIM7		inserm.fr	GRCh37	5	180622655	180622655	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB325T																					ENST00000274773.7:c.1047C>A	p.Asp349Glu	p.D349E	ENST00000274773	NM_203293.2	349	gaC/gaA	0	validated		benign	
FXR1		inserm.fr	GRCh37	3	180688011	180688011	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC889T																					ENST00000357559.4:c.1468G>T	p.Asp490Tyr	p.D490Y	ENST00000357559	NM_001013438.2	490	Gac/Tac	0	not done		probablydamaging	
KIAA1614		inserm.fr	GRCh37	1	180885781	180885781	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC912T																					ENST00000367588.4:c.542A>T	p.Asn181Ile	p.N181I	ENST00000367588	NM_020950.1	181	aAc/aTc	0	validated		probablydamaging	
KIAA1614		inserm.fr	GRCh37	1	180905224	180905224	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM703T																					ENST00000367588.4:c.2179C>T	p.Pro727Ser	p.P727S	ENST00000367588	NM_020950.1	727	Cca/Tca	0	validated		probablydamaging	
SAAL1		inserm.fr	GRCh37	11	18103023	18103023	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000524803.1:c.1267G>A	p.Gly423Ser	p.G423S	ENST00000524803		423	Ggc/Agc	0	not done		probablydamaging	
ARRDC2		inserm.fr	GRCh37	19	18112135	18112135	+	downstream_gene_variant	3'Flank	SNP	G	T	T			CHC794T																								ENST00000222249	NM_002248.4			0	validated		synonymous	
KCNS3		inserm.fr	GRCh37	2	18112755	18112755	+	synonymous_variant	Silent	SNP	C	T	T			CHC889T																					ENST00000403915.1:c.480C>T	p.Asp160=	p.D160=	ENST00000403915	NM_001282428.1	160	gaC/gaT	0	not done		synonymous	
SAAL1		inserm.fr	GRCh37	11	18113859	18113859	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000524803.1:c.346G>A	p.Gly116Arg	p.G116R	ENST00000524803		116	Gga/Aga	0	not done		probablydamaging	
LLGL1		inserm.fr	GRCh37	17	18138792	18138792	+	synonymous_variant	Silent	SNP	C	T	T			CHC051T																					ENST00000316843.4:c.1293C>T	p.Pro431=	p.P431=	ENST00000316843	NM_004140.3	431	ccC/ccT	0	validated		synonymous	
LLGL1		inserm.fr	GRCh37	17	18144003	18144003	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM399T									Valid												ENST00000316843.4:c.2318C>T	p.Ala773Val	p.A773V	ENST00000316843	NM_004140.3	773	gCg/gTg	0	validated		probablydamaging	
ACTL8		inserm.fr	GRCh37	1	18152303	18152303	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000375406.1:c.390C>T	p.Ala130=	p.A130=	ENST00000375406	NM_030812.2	130	gcC/gcT	0	not done		synonymous	
CACNA1E		inserm.fr	GRCh37	1	181549812	181549812	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1040T																					ENST00000367573.2:c.851G>T	p.Gly284Val	p.G284V	ENST00000367573	NM_001205293.1	284	gGc/gTc	0	not done		probablydamaging	
MRGPRX3		inserm.fr	GRCh37	11	18158945	18158945	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000396275.2:c.196C>T	p.Leu66Phe	p.L66F	ENST00000396275	NM_054031.3	66	Ctc/Ttc	0	not done		possiblydamaging	
MRGPRX3		inserm.fr	GRCh37	11	18158962	18158962	+	synonymous_variant	Silent	SNP	C	T	T			CHC1035T																					ENST00000396275.2:c.213C>T	p.Ala71=	p.A71=	ENST00000396275	NM_054031.3	71	gcC/gcT	0	validated		synonymous	
CACNA1E		inserm.fr	GRCh37	1	181705421	181705421	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM375T																					ENST00000367573.2:c.3273G>T	p.Lys1091Asn	p.K1091N	ENST00000367573	NM_001205293.1	1091	aaG/aaT	0	validated		benign	
CACNA1E		inserm.fr	GRCh37	1	181706742	181706742	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000367573.2:c.3504C>T	p.Ile1168=	p.I1168=	ENST00000367573	NM_001205293.1	1168	atC/atT	0	validated		synonymous	
BCL2L13		inserm.fr	GRCh37	22	18171818	18171818	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC320T									Valid												ENST00000317582.5:c.296C>T	p.Ser99Leu	p.S99L	ENST00000317582	NM_015367.3	99	tCa/tTa	0	validated		probablydamaging	
CACNA1E		inserm.fr	GRCh37	1	181727242	181727242	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1715T																					ENST00000367573.2:c.4489A>T	p.Met1497Leu	p.M1497L	ENST00000367573	NM_001205293.1	1497	Atg/Ttg	0	not done		possiblydamaging	
TOP3A		inserm.fr	GRCh37	17	18181628	18181628	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM723T																					ENST00000321105.5:c.2188C>A	p.Pro730Thr	p.P730T	ENST00000321105	NM_004618.3	730	Cct/Act	0	validated		possiblydamaging	
BEND2		inserm.fr	GRCh37	X	18189238	18189238	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1061T									Valid												ENST00000380033.4:c.2068G>A	p.Ala690Thr	p.A690T	ENST00000380033	NM_153346.4	690	Gct/Act	0	validated		probablydamaging	
ZNF648		inserm.fr	GRCh37	1	182025613	182025613	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000339948.3:c.1533G>A	p.Arg511=	p.R511=	ENST00000339948	NM_001009992.1	511	agG/agA	0	not done		synonymous	
KDM1B		inserm.fr	GRCh37	6	18208385	18208385	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2115T																					ENST00000297792.5:c.1118G>T	p.Gly373Val	p.G373V	ENST00000297792		373	gGa/gTa	0	not done		probablydamaging	
BCL2L13		inserm.fr	GRCh37	22	18209889	18209889	+	synonymous_variant	Silent	SNP	C	T	T			CHC1750T																					ENST00000317582.5:c.1047C>T	p.Ile349=	p.I349=	ENST00000317582	NM_015367.3	349	atC/atT	0	not done		synonymous	
SMCR8		inserm.fr	GRCh37	17	18219201	18219201	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2351T																					ENST00000406438.3:c.98C>T	p.Pro33Leu	p.P33L	ENST00000406438	NM_144775.2	33	cCg/cTg	0	not done		probablydamaging	
BID		inserm.fr	GRCh37	22	18222149	18222149	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1191T																					ENST00000317361.7:c.467C>A	p.Ala156Asp	p.A156D	ENST00000317361	NM_197966.2	156	gCc/gAc	0	not done		probablydamaging	
MRPS34		inserm.fr	GRCh37	16	1822932	1822932	+	synonymous_variant	Silent	SNP	G	T	T			CHC798T																					ENST00000397375.2:c.189C>A	p.Arg63=	p.R63=	ENST00000397375	NM_023936.1	63	cgC/cgA	0	validated		synonymous	
RGSL1		inserm.fr	GRCh37	1	182442713	182442713	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000294854.8:c.467C>T	p.Ser156Phe	p.S156F	ENST00000294854	NM_001137669.1	156	tCc/tTc	0	validated		probablydamaging	
MAST3		inserm.fr	GRCh37	19	18245739	18245739	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1736T																					ENST00000262811.6:c.1730G>T	p.Cys577Phe	p.C577F	ENST00000262811	NM_015016.1	577	tGc/tTc	0	not done		probablydamaging	
EME2		inserm.fr	GRCh37	16	1825105	1825105	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1602T																					ENST00000568449.1:c.541G>T	p.Ala181Ser	p.A181S	ENST00000568449	NM_001257370.1	181	Gct/Tct	0	validated		probablydamaging	
SHMT1		inserm.fr	GRCh37	17	18251746	18251746	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB325T									Valid												ENST00000316694.3:c.251G>A	p.Gly84Asp	p.G84D	ENST00000316694	NM_004169.3	84	gGc/gAc	0	validated		possiblydamaging	
RGSL1		inserm.fr	GRCh37	1	182517486	182517486	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000294854.8:c.2704C>T	p.Gln902Ter	p.Q902*	ENST00000294854	NM_001137669.1	902	Cag/Tag	0	not done		damaging	
SLC39A12		inserm.fr	GRCh37	10	18254611	18254611	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC306T																					ENST00000377369.2:c.743G>T	p.Arg248Leu	p.R248L	ENST00000377369	NM_001145195.1	248	cGc/cTc	0	validated		benign	
RNASEL		inserm.fr	GRCh37	1	182554638	182554638	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1035T																					ENST00000367559.3:c.1304C>A	p.Thr435Asn	p.T435N	ENST00000367559	NM_021133.3	435	aCc/aAc	0	validated		benign	
EME2		inserm.fr	GRCh37	16	1825696	1825696	+	intron_variant	Intron	SNP	C	T	T			BCM723T																					ENST00000568449.1:c.779+11C>T		*260*	ENST00000568449	NM_001257370.1			0	validated			
PIK3R2		inserm.fr	GRCh37	19	18272096	18272096	+	synonymous_variant	Silent	SNP	G	T	T			CHC320T																					ENST00000222254.8:c.606G>T	p.Ala202=	p.A202=	ENST00000222254	NM_005027.3	202	gcG/gcT	0	validated		synonymous	
REXO1		inserm.fr	GRCh37	19	1827364	1827364	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1757T																					ENST00000170168.4:c.1424G>A	p.Arg475His	p.R475H	ENST00000170168	NM_020695.3	475	cGc/cAc	0	validated		benign	
REXO1		inserm.fr	GRCh37	19	1827418	1827418	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1205T																					ENST00000170168.4:c.1370G>A	p.Arg457Gln	p.R457Q	ENST00000170168	NM_020695.3	457	cGg/cAg	0	not done		benign	
SCML2		inserm.fr	GRCh37	X	18275119	18275119	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000251900.4:c.1305G>A	p.Gln435=	p.Q435=	ENST00000251900	NM_006089.2	435	caG/caA	0	not done		synonymous	
SLC39A12		inserm.fr	GRCh37	10	18282191	18282191	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC703T																					ENST00000377369.2:c.1504A>T	p.Arg502Ter	p.R502*	ENST00000377369	NM_001145195.1	502	Aga/Tga	0	validated		damaging	
DHX9		inserm.fr	GRCh37	1	182827320	182827320	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1183T																					ENST00000367549.3:c.755A>T	p.His252Leu	p.H252L	ENST00000367549	NM_001357.4	252	cAt/cTt	0	not done		probablydamaging	
REXO1		inserm.fr	GRCh37	19	1828319	1828319	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1745T																					ENST00000170168.4:c.469G>A	p.Gly157Ser	p.G157S	ENST00000170168	NM_020695.3	157	Ggc/Agc	0	validated		benign	
SHCBP1L		inserm.fr	GRCh37	1	182874631	182874631	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000367547.3:c.1336G>A	p.Gly446Arg	p.G446R	ENST00000367547	NM_030933.2	446	Gga/Aga	0	not done		probablydamaging	
SLC39A12		inserm.fr	GRCh37	10	18292207	18292207	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1600T																					ENST00000377369.2:c.1867G>T	p.Val623Leu	p.V623L	ENST00000377369	NM_001145195.1	623	Gtg/Ttg	0	not done		benign	
ZNF133		inserm.fr	GRCh37	20	18296557	18296557	+	synonymous_variant	Silent	SNP	C	T	T			CHC1192T																					ENST00000377671.3:c.1059C>T	p.Ile353=	p.I353=	ENST00000377671	NM_003434.4	353	atC/atT	0	not done		synonymous	
ZNF133		inserm.fr	GRCh37	20	18297048	18297048	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2052T																					ENST00000377671.3:c.1550G>T	p.Gly517Val	p.G517V	ENST00000377671	NM_003434.4	517	gGg/gTg	0	not done		probablydamaging	
B3GNT5		inserm.fr	GRCh37	3	182988433	182988433	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1040T																					ENST00000326505.3:c.847G>T	p.Asp283Tyr	p.D283Y	ENST00000326505	NM_032047.4	283	Gat/Tat	0	not done		probablydamaging	
MICAL3		inserm.fr	GRCh37	22	18300840	18300840	+	synonymous_variant	Silent	SNP	G	T	T			CHC322T																					ENST00000441493.2:c.4587C>A	p.Thr1529=	p.T1529=	ENST00000441493	NM_015241.2	1529	acC/acA	0	validated		synonymous	
MCF2L2		inserm.fr	GRCh37	3	183041066	183041066	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000328913.3:c.560G>A	p.Gly187Glu	p.G187E	ENST00000328913	NM_015078.2	187	gGg/gAg	0	not done		probablydamaging	
MCF2L2		inserm.fr	GRCh37	3	183041085	183041085	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM399T									Valid												ENST00000328913.3:c.541C>A	p.Leu181Met	p.L181M	ENST00000328913	NM_015078.2	181	Ctg/Atg	0	validated		probablydamaging	
LAMC1		inserm.fr	GRCh37	1	183087228	183087228	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1708T																					ENST00000258341.4:c.1937A>T	p.Lys646Met	p.K646M	ENST00000258341	NM_002293.3	646	aAg/aTg	0	not done		probablydamaging	
PDE1A		inserm.fr	GRCh37	2	183095810	183095810	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1736T																					ENST00000435564.1:c.514G>A	p.Gly172Arg	p.G172R	ENST00000435564	NM_001258312.1	172	Gga/Aga	0	not done		possiblydamaging	
KLHL6		inserm.fr	GRCh37	3	183217510	183217510	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC302T									Valid												ENST00000341319.3:c.1015T>A	p.Cys339Ser	p.C339S	ENST00000341319	NM_130446.2	339	Tgc/Agc	0	validated		possiblydamaging	
TENM3		inserm.fr	GRCh37	4	183268032	183268032	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000511685.1:c.461C>T	p.Ala154Val	p.A154V	ENST00000511685		154	gCc/gTc	0	not done		benign	
KLHL6		inserm.fr	GRCh37	3	183273374	183273374	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000341319.3:c.68C>A	p.Pro23His	p.P23H	ENST00000341319	NM_130446.2	23	cCc/cAc	0	not done		probablydamaging	
HPS5		inserm.fr	GRCh37	11	18333523	18333523	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000349215.3:c.157G>A	p.Gly53Arg	p.G53R	ENST00000349215	NM_181507.1	53	Gga/Aga	0	not done		probablydamaging	
PARL		inserm.fr	GRCh37	3	183551320	183551320	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM791T																					ENST00000317096.4:c.988T>A	p.Phe330Ile	p.F330I	ENST00000317096	NM_018622.5	330	Ttt/Att	0	validated		probablydamaging	
DNAJC10		inserm.fr	GRCh37	2	183586751	183586751	+	splice_acceptor_variant	Splice_Site	SNP	G	T	T			CHC892T																					ENST00000264065.7:c.368-1G>T		p.X123_splice	ENST00000264065	NM_018981.2			0	not done		damaging	
TENM3		inserm.fr	GRCh37	4	183673132	183673132	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1756T																					ENST00000511685.1:c.3809C>T	p.Ala1270Val	p.A1270V	ENST00000511685		1270	gCg/gTg	0	not done		possiblydamaging	
DZANK1		inserm.fr	GRCh37	20	18371061	18371061	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1600T																					ENST00000262547.5:c.1852G>A	p.Glu618Lys	p.E618K	ENST00000262547	NM_001099407.1	618	Gaa/Aaa	0	not done		benign	
TENM3		inserm.fr	GRCh37	4	183721277	183721277	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1751T																					ENST00000511685.1:c.7873C>T	p.Arg2625Trp	p.R2625W	ENST00000511685		2625	Cgg/Tgg	0	not done		probablydamaging	
HTR3D		inserm.fr	GRCh37	3	183756222	183756222	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000382489.3:c.945C>T	p.Ser315=	p.S315=	ENST00000382489	NM_001163646.1	315	tcC/tcT	0	not done		synonymous	
NCKAP1		inserm.fr	GRCh37	2	183817540	183817540	+	synonymous_variant	Silent	SNP	C	T	T			BCM399T																					ENST00000360982.2:c.2502G>A	p.Glu834=	p.E834=	ENST00000360982	NM_013436.4	834	gaG/gaA	0	validated		synonymous	
HTR3E		inserm.fr	GRCh37	3	183823734	183823734	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000440596.2:c.980C>T	p.Pro327Leu	p.P327L	ENST00000440596	NM_001256614.1	327	cCc/cTc	0	not done		benign	
NCKAP1		inserm.fr	GRCh37	2	183853912	183853912	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC1598T																					ENST00000360982.2:c.811G>A	p.Gly271Ser	p.G271S	ENST00000360982	NM_013436.4	271	Ggc/Agc	0	not done		probablydamaging	
DVL3		inserm.fr	GRCh37	3	183888162	183888162	+	synonymous_variant	Silent	SNP	C	T	T			CHC2216T																					ENST00000313143.3:c.1770C>T	p.Asp590=	p.D590=	ENST00000313143	NM_004423.3	590	gaC/gaT	0	not done		synonymous	
DVL3		inserm.fr	GRCh37	3	183888404	183888404	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1185T																					ENST00000313143.3:c.2012C>T	p.Pro671Leu	p.P671L	ENST00000313143	NM_004423.3	671	cCg/cTg	0	validated		benign	
ABCF3		inserm.fr	GRCh37	3	183906166	183906166	+	synonymous_variant	Silent	SNP	G	T	T			CHC796T																					ENST00000429586.2:c.807G>T	p.Arg269=	p.R269=	ENST00000429586	NM_018358.2	269	cgG/cgT	0	validated		synonymous	
VWA5B2		inserm.fr	GRCh37	3	183957581	183957581	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1756T																					ENST00000426955.2:c.2497C>T	p.Pro833Ser	p.P833S	ENST00000426955	NM_138345.1	833	Cct/Tct	0	not done		benign	
ALG3		inserm.fr	GRCh37	3	183963347	183963347	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000397676.3:c.353G>A	p.Gly118Asp	p.G118D	ENST00000397676	NM_005787.5	118	gGc/gAc	0	not done		probablydamaging	
RTN4RL1		inserm.fr	GRCh37	17	1840010	1840010	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000331238.6:c.1106G>A	p.Gly369Asp	p.G369D	ENST00000331238	NM_178568.2	369	gGc/gAc	0	not done		benign	
PSMD2		inserm.fr	GRCh37	3	184025702	184025702	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCB109T									Valid												ENST00000310118.4:c.2323A>T	p.Thr775Ser	p.T775S	ENST00000310118	NM_002808.4	775	Acc/Tcc	0	validated		possiblydamaging	
RTN4RL1		inserm.fr	GRCh37	17	1840676	1840676	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2115T																					ENST00000331238.6:c.440G>A	p.Gly147Asp	p.G147D	ENST00000331238	NM_178568.2	147	gGc/gAc	0	not done		probablydamaging	
CLCN2		inserm.fr	GRCh37	3	184070257	184070257	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC961T																					ENST00000265593.4:c.2245C>A	p.Leu749Met	p.L749M	ENST00000265593	NM_004366.5	749	Ctg/Atg	0	validated		benign	
CDKN2AIP		inserm.fr	GRCh37	4	184366051	184366051	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1028T																					ENST00000504169.1:c.101A>T	p.His34Leu	p.H34L	ENST00000504169	NM_017632.2	34	cAc/cTc	0	not done		benign	
MAGEF1		inserm.fr	GRCh37	3	184429297	184429297	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1592T																					ENST00000317897.3:c.313T>A	p.Tyr105Asn	p.Y105N	ENST00000317897	NM_022149.4	105	Tac/Aac	0	not done		benign	
C3orf70		inserm.fr	GRCh37	3	184800926	184800926	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC917T																					ENST00000335012.2:c.622G>A	p.Glu208Lys	p.E208K	ENST00000335012	NM_001025266.1	208	Gaa/Aaa	0	validated		probablydamaging	
FAM129A		inserm.fr	GRCh37	1	184801036	184801036	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC301T									Valid												ENST00000367511.3:c.662G>A	p.Arg221Gln	p.R221Q	ENST00000367511	NM_052966.3	221	cGa/cAa	0	validated		probablydamaging	
C3orf70		inserm.fr	GRCh37	3	184801341	184801341	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000335012.2:c.207G>A	p.Met69Ile	p.M69I	ENST00000335012	NM_001025266.1	69	atG/atA	0	not done		benign	
FAM129A		inserm.fr	GRCh37	1	184863272	184863272	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000367511.3:c.255G>A	p.Lys85=	p.K85=	ENST00000367511	NM_052966.3	85	aaG/aaA	0	not done		synonymous	
SEC23B		inserm.fr	GRCh37	20	18491654	18491654	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T									Valid												ENST00000336714.3:c.175G>T	p.Val59Leu	p.V59L	ENST00000336714	NM_032985.4	59	Gtg/Ttg	0	validated		probablydamaging	
EHHADH		inserm.fr	GRCh37	3	184922219	184922219	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1191T																					ENST00000231887.3:c.895T>A	p.Ser299Thr	p.S299T	ENST00000231887	NM_001166415.1	299	Tca/Aca	0	not done		benign	
EHHADH		inserm.fr	GRCh37	3	184947331	184947331	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000231887.3:c.352G>A	p.Ala118Thr	p.A118T	ENST00000231887	NM_001166415.1	118	Gct/Act	0	not done		possiblydamaging	
LDHAL6A		inserm.fr	GRCh37	11	18497967	18497967	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000280706.2:c.629C>T	p.Pro210Leu	p.P210L	ENST00000280706	NM_144972.4	210	cCt/cTt	0	not done		benign	
LRRC25		inserm.fr	GRCh37	19	18507134	18507134	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC451T																					ENST00000339007.3:c.640G>A	p.Gly214Ser	p.G214S	ENST00000339007	NM_145256.2	214	Ggt/Agt	0	validated		benign	
SEC23B		inserm.fr	GRCh37	20	18513307	18513307	+	splice_acceptor_variant	Splice_Site	SNP	G	T	T			CHC1052T									Valid												ENST00000336714.3:c.1234-1G>T		p.X412_splice	ENST00000336714	NM_032985.4			0	validated		damaging	
IGF2BP2		inserm.fr	GRCh37	3	185407336	185407336	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM321T																					ENST00000382199.2:c.484T>A	p.Ser162Thr	p.S162T	ENST00000382199	NM_006548.4	162	Tcc/Acc	0	validated		benign	
TBC1D28		inserm.fr	GRCh37	17	18541731	18541731	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000345096.4:c.282G>A	p.Leu94=	p.L94=	ENST00000345096		94	ctG/ctA	0	not done		synonymous	
ELL		inserm.fr	GRCh37	19	18562362	18562362	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000262809.4:c.966G>A	p.Gln322=	p.Q322=	ENST00000262809	NM_006532.3	322	caG/caA	0	not done		damaging	
TRA2B		inserm.fr	GRCh37	3	185643274	185643274	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM683T																					ENST00000453386.2:c.311G>A	p.Arg104His	p.R104H	ENST00000453386	NM_004593.2	104	cGc/cAc	0	validated		benign	
ACSL1		inserm.fr	GRCh37	4	185686022	185686022	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000515030.1:c.1417G>A	p.Gly473Arg	p.G473R	ENST00000515030	NM_001286708.1	473	Gga/Aga	0	not done		benign	
ACSL1		inserm.fr	GRCh37	4	185687050	185687050	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1148T																					ENST00000515030.1:c.1354T>A	p.Cys452Ser	p.C452S	ENST00000515030	NM_001286708.1	452	Tgt/Agt	0	not done		probablydamaging	
ACSL1		inserm.fr	GRCh37	4	185694266	185694266	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1186T																					ENST00000515030.1:c.884G>A	p.Ser295Asn	p.S295N	ENST00000515030	NM_001286708.1	295	aGc/aAc	0	not done		benign	
ELL		inserm.fr	GRCh37	19	18576375	18576375	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1611T																					ENST00000262809.4:c.316G>A	p.Val106Ile	p.V106I	ENST00000262809	NM_006532.3	106	Gtt/Att	0	not done		benign	
DGKG		inserm.fr	GRCh37	3	185879427	185879427	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265022.3:c.2242G>A	p.Val748Met	p.V748M	ENST00000265022	NM_001080744.1	748	Gtg/Atg	0	not done		probablydamaging	
DGKG		inserm.fr	GRCh37	3	185882710	185882710	+	synonymous_variant	Silent	SNP	G	T	T			BCM275T																					ENST00000265022.3:c.2193C>A	p.Ala731=	p.A731=	ENST00000265022	NM_001080744.1	731	gcC/gcA	0	validated		synonymous	
HMCN1		inserm.fr	GRCh37	1	186055484	186055484	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000271588.4:c.8991C>T	p.Ser2997=	p.S2997=	ENST00000271588	NM_031935.2	2997	agC/agT	0	not done		synonymous	
HMCN1		inserm.fr	GRCh37	1	186062737	186062737	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1594T																					ENST00000271588.4:c.10132A>T	p.Lys3378Ter	p.K3378*	ENST00000271588	NM_031935.2	3378	Aag/Tag	0	not done		damaging	
HMCN1		inserm.fr	GRCh37	1	186089186	186089186	+	synonymous_variant	Silent	SNP	C	T	T			CHC059T																					ENST00000271588.4:c.12138C>T	p.Ser4046=	p.S4046=	ENST00000271588	NM_031935.2	4046	tcC/tcT	0	validated		synonymous	
HMCN1		inserm.fr	GRCh37	1	186089227	186089227	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000271588.4:c.12179C>T	p.Ala4060Val	p.A4060V	ENST00000271588	NM_031935.2	4060	gCc/gTc	0	not done		probablydamaging	
CDKL5		inserm.fr	GRCh37	X	18622597	18622597	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM257T																					ENST00000379989.3:c.1553C>T	p.Pro518Leu	p.P518L	ENST00000379989	NM_001037343.1	518	cCa/cTa	0	validated		probablydamaging	
LRP2BP		inserm.fr	GRCh37	4	186288392	186288392	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM711T																					ENST00000328559.7:c.986G>A	p.Arg329His	p.R329H	ENST00000328559	NM_018409.3	329	cGt/cAt	0	validated		benign	
SPTY2D1		inserm.fr	GRCh37	11	18636379	18636379	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000336349.5:c.1442G>A	p.Gly481Asp	p.G481D	ENST00000336349	NM_194285.2	481	gGc/gAc	0	not done		possiblydamaging	
FKBP8		inserm.fr	GRCh37	19	18650267	18650267	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	T	T			CHC1137T																					ENST00000608443.1:c.465C>A	p.Ala155=	p.A155=	ENST00000608443		155	gcC/gcA	0	validated		synonymous	
SORBS2		inserm.fr	GRCh37	4	186544728	186544728	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000355634.5:c.2143G>A	p.Gly715Arg	p.G715R	ENST00000355634	NM_001270771.1	715	Ggg/Agg	0	not done		benign	
PTGS2		inserm.fr	GRCh37	1	186648263	186648263	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1751T																					ENST00000367468.5:c.240C>A	p.His80Gln	p.H80Q	ENST00000367468	NM_000963.2	80	caC/caA	0	not done		possiblydamaging	
FSIP2		inserm.fr	GRCh37	2	186656424	186656424	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000343098.5:c.4828C>T	p.Pro1610Ser	p.P1610S	ENST00000343098	NM_173651.2	1610	Cca/Tca	0	not done			
FSIP2		inserm.fr	GRCh37	2	186661160	186661160	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000343098.5:c.9564C>T	p.Asn3188=	p.N3188=	ENST00000343098	NM_173651.2	3188	aaC/aaT	0	validated		synonymous	
FSIP2		inserm.fr	GRCh37	2	186666814	186666814	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000343098.5:c.13048C>T	p.Pro4350Ser	p.P4350S	ENST00000343098	NM_173651.2	4350	Cca/Tca	0	not done			
FSIP2		inserm.fr	GRCh37	2	186667390	186667390	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000343098.5:c.13624C>T	p.Pro4542Ser	p.P4542S	ENST00000343098	NM_173651.2	4542	Cca/Tca	0	not done			
FSIP2		inserm.fr	GRCh37	2	186673818	186673818	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000343098.5:c.20052C>T	p.Thr6684=	p.T6684=	ENST00000343098	NM_173651.2	6684	acC/acT	0	not done		synonymous	
ST6GAL1		inserm.fr	GRCh37	3	186792059	186792059	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM711T																					ENST00000169298.3:c.917A>T	p.Asp306Val	p.D306V	ENST00000169298	NM_173216.2	306	gAc/gTc	0	validated		probablydamaging	
RTP1		inserm.fr	GRCh37	3	186917722	186917722	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC155T																					ENST00000312295.4:c.656G>T	p.Arg219Leu	p.R219L	ENST00000312295	NM_153708.2	219	cGg/cTg	0	validated		probablydamaging	
HAGH		inserm.fr	GRCh37	16	1869221	1869221	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000397356.3:c.436G>A	p.Gly146Arg	p.G146R	ENST00000397356	NM_005326.4	146	Ggg/Agg	0	not done		possiblydamaging	
PLA2G4A		inserm.fr	GRCh37	1	186948462	186948462	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB151T																					ENST00000367466.3:c.1976C>T	p.Thr659Ile	p.T659I	ENST00000367466	NM_024420.2	659	aCt/aTt	0	validated		possiblydamaging	
RTP4		inserm.fr	GRCh37	3	187088632	187088632	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000259030.2:c.212G>T	p.Cys71Phe	p.C71F	ENST00000259030	NM_022147.2	71	tGc/tTc	0	not done		probablydamaging	
RTP4		inserm.fr	GRCh37	3	187088831	187088831	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000259030.2:c.411G>T	p.Met137Ile	p.M137I	ENST00000259030	NM_022147.2	137	atG/atT	0	not done		benign	
ARHGEF10		inserm.fr	GRCh37	8	1871666	1871666	+	synonymous_variant	Silent	SNP	A	T	T			CHC1756T																					ENST00000349830.3:c.2292A>T	p.Thr764=	p.T764=	ENST00000349830	NM_014629.2	764	acA/acT	0	not done		synonymous	
ARHGEF10		inserm.fr	GRCh37	8	1871979	1871979	+	synonymous_variant	Silent	SNP	G	T	T			BCM703T																					ENST00000349830.3:c.2427G>T	p.Thr809=	p.T809=	ENST00000349830	NM_014629.2	809	acG/acT	0	validated		synonymous	
F11		inserm.fr	GRCh37	4	187201720	187201720	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000403665.2:c.1121G>T	p.Cys374Phe	p.C374F	ENST00000403665	NM_000128.3	374	tGt/tTt	0	not done		probablydamaging	
TMEM86A		inserm.fr	GRCh37	11	18722664	18722664	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM399T																					ENST00000280734.2:c.206C>T	p.Thr69Ile	p.T69I	ENST00000280734	NM_153347.1	69	aCc/aTc	0	validated		benign	
PSD3		inserm.fr	GRCh37	8	18725184	18725184	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC736T									Valid												ENST00000327040.8:c.1634G>A	p.Ser545Asn	p.S545N	ENST00000327040	NM_015310.3	545	aGc/aAc	0	validated		benign	
IGSF22		inserm.fr	GRCh37	11	18728676	18728676	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2034T																					ENST00000513874.1:c.3365T>A	p.Val1122Glu	p.V1122E	ENST00000513874	NM_173588.3	1122	gTg/gAg	0	not done		benign	
RDH14		inserm.fr	GRCh37	2	18736921	18736921	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC097T																					ENST00000381249.3:c.547G>A	p.Ala183Thr	p.A183T	ENST00000381249	NM_020905.3	183	Gct/Act	0	not done			
RTP2		inserm.fr	GRCh37	3	187416407	187416407	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1749T																					ENST00000358241.1:c.557C>A	p.Pro186Gln	p.P186Q	ENST00000358241	NM_001004312.2	186	cCg/cAg	0	not done		benign	
RTP2		inserm.fr	GRCh37	3	187416654	187416654	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC898T																					ENST00000358241.1:c.310C>A	p.Leu104Met	p.L104M	ENST00000358241	NM_001004312.2	104	Ctg/Atg	0	not done		probablydamaging	
BCL6		inserm.fr	GRCh37	3	187447005	187447005	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000232014.4:c.1188G>A	p.Glu396=	p.E396=	ENST00000232014	NM_001130845.1	396	gaG/gaA	0	not done		synonymous	
ITGAV		inserm.fr	GRCh37	2	187506311	187506311	+	synonymous_variant	Silent	SNP	C	T	T			CHC303T																					ENST00000261023.3:c.1155C>T	p.Phe385=	p.F385=	ENST00000261023	NM_002210.4	385	ttC/ttT	0	validated		synonymous	
FAT1		inserm.fr	GRCh37	4	187527248	187527248	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000441802.2:c.10326G>A	p.Arg3442=	p.R3442=	ENST00000441802	NM_005245.3	3442	agG/agA	0	not done		synonymous	
ITGAV		inserm.fr	GRCh37	2	187541949	187541949	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC313T									Valid												ENST00000261023.3:c.3077C>T	p.Pro1026Leu	p.P1026L	ENST00000261023	NM_002210.4	1026	cCa/cTa	0	validated		probablydamaging	
FAT1		inserm.fr	GRCh37	4	187629583	187629583	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000441802.2:c.1399G>A	p.Ala467Thr	p.A467T	ENST00000441802	NM_005245.3	467	Gcg/Acg	0	not done		benign	
FAT1		inserm.fr	GRCh37	4	187630977	187630977	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000441802.2:c.5G>A	p.Gly2Glu	p.G2E	ENST00000441802	NM_005245.3	2	gGg/gAg	0	not done		benign	
PTPN5		inserm.fr	GRCh37	11	18764562	18764562	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000358540.2:c.460G>A	p.Gly154Ser	p.G154S	ENST00000358540	NM_006906.1	154	Ggc/Agc	0	not done		benign	
ZSWIM2		inserm.fr	GRCh37	2	187692773	187692773	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1040T																					ENST00000295131.2:c.1840T>A	p.Ser614Thr	p.S614T	ENST00000295131	NM_182521.2	614	Tct/Act	0	not done		benign	
ZSWIM2		inserm.fr	GRCh37	2	187692859	187692859	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1747T																					ENST00000295131.2:c.1754C>A	p.Thr585Lys	p.T585K	ENST00000295131	NM_182521.2	585	aCa/aAa	0	not done		probablydamaging	
ADAMTSL1		inserm.fr	GRCh37	9	18777090	18777090	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1725T																					ENST00000380548.4:c.2863C>T	p.His955Tyr	p.H955Y	ENST00000380548	NM_001040272.5	955	Cac/Tac	0	not done		benign	
ADAMTSL1		inserm.fr	GRCh37	9	18777146	18777146	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000380548.4:c.2919C>T	p.Ser973=	p.S973=	ENST00000380548	NM_001040272.5	973	agC/agT	0	not done		synonymous	
ADAMTSL1		inserm.fr	GRCh37	9	18777185	18777185	+	synonymous_variant	Silent	SNP	C	T	T			CHC2099T																					ENST00000380548.4:c.2958C>T	p.Gly986=	p.G986=	ENST00000380548	NM_001040272.5	986	ggC/ggT	0	not done		synonymous	
IRX4		inserm.fr	GRCh37	5	1878588	1878588	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000505790.1:c.1055G>A	p.Gly352Glu	p.G352E	ENST00000505790	NM_001278634.1	352	gGg/gAg	0	not done		benign	
SCP2D1		inserm.fr	GRCh37	20	18794526	18794526	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1591T																					ENST00000377428.2:c.67G>T	p.Glu23Ter	p.E23*	ENST00000377428	NM_178483.2	23	Gag/Tag	0	not done		damaging	
IRX4		inserm.fr	GRCh37	5	1879645	1879645	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000505790.1:c.709G>A	p.Glu237Lys	p.E237K	ENST00000505790	NM_001278634.1	237	Gag/Aag	0	not done		benign	
IRX4		inserm.fr	GRCh37	5	1879913	1879913	+	synonymous_variant	Silent	SNP	C	T	T			CHC1743T																					ENST00000505790.1:c.441G>A	p.Lys147=	p.K147=	ENST00000505790	NM_001278634.1	147	aaG/aaA	0	not done		synonymous	
PPEF1		inserm.fr	GRCh37	X	18802068	18802068	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361511.4:c.814C>T	p.Pro272Ser	p.P272S	ENST00000361511	NM_006240.2	272	Cca/Tca	0	not done		probablydamaging	
KLHDC7A		inserm.fr	GRCh37	1	18808394	18808394	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000400664.1:c.919G>T	p.Ala307Ser	p.A307S	ENST00000400664	NM_152375.2	307	Gct/Tct	0	not done		possiblydamaging	
CACNB2		inserm.fr	GRCh37	10	18828290	18828290	+	synonymous_variant	Silent	SNP	C	T	T			CHC1743T																					ENST00000324631.7:c.1620C>T	p.Asn540=	p.N540=	ENST00000324631	NM_201593.2	540	aaC/aaT	0	not done		synonymous	
TFPI		inserm.fr	GRCh37	2	188332632	188332632	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1739T																					ENST00000233156.3:c.656C>A	p.Thr219Asn	p.T219N	ENST00000233156	NM_006287.4	219	aCt/aAt	0	not done		benign	
SMG1		inserm.fr	GRCh37	16	18860690	18860690	+	synonymous_variant	Silent	SNP	C	T	T			CHC1747T																					ENST00000446231.2:c.5472G>A	p.Pro1824=	p.P1824=	ENST00000446231		1824	ccG/ccA	0	not done		synonymous	
SMG1		inserm.fr	GRCh37	16	18866133	18866133	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000446231.2:c.4328G>A	p.Arg1443Lys	p.R1443K	ENST00000446231		1443	aGa/aAa	0	not done		possiblydamaging	
NSUN6		inserm.fr	GRCh37	10	18885218	18885218	+	synonymous_variant	Silent	SNP	A	T	T			CHC798T																					ENST00000377304.4:c.696T>A	p.Pro232=	p.P232=	ENST00000377304	NM_182543.2	232	ccT/ccA	0	validated		synonymous	
COMP		inserm.fr	GRCh37	19	18900082	18900082	+	synonymous_variant	Silent	SNP	G	T	T			CHC197T																					ENST00000222271.2:c.415C>A	p.Arg139=	p.R139=	ENST00000222271	NM_000095.2	139	Cga/Aga	0	validated		synonymous	
ADIPOR2		inserm.fr	GRCh37	12	1890111	1890111	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC469T									Valid												ENST00000357103.4:c.707A>T	p.Tyr236Phe	p.Y236F	ENST00000357103	NM_024551.2	236	tAt/tTt	0	validated		probablydamaging	
TRIML2		inserm.fr	GRCh37	4	189012674	189012674	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000512729.1:c.1017G>A	p.Met339Ile	p.M339I	ENST00000512729	NM_173553.1	339	atG/atA	0	not done		benign	
TRIML2		inserm.fr	GRCh37	4	189012911	189012911	+	synonymous_variant	Silent	SNP	C	T	T			CHC1751T																					ENST00000512729.1:c.780G>A	p.Val260=	p.V260=	ENST00000512729	NM_173553.1	260	gtG/gtA	0	not done		synonymous	
MRGPRX1		inserm.fr	GRCh37	11	18955871	18955871	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1154T																					ENST00000302797.3:c.461G>A	p.Ser154Asn	p.S154N	ENST00000302797	NM_147199.3	154	aGc/aAc	0	not done		possiblydamaging	
MRGPRX1		inserm.fr	GRCh37	11	18955931	18955931	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1756T																					ENST00000302797.3:c.401G>A	p.Arg134His	p.R134H	ENST00000302797	NM_147199.3	134	cGc/cAc	0	not done		probablydamaging	
LEPREL1		inserm.fr	GRCh37	3	189706761	189706761	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1183T																					ENST00000319332.5:c.890G>A	p.Arg297His	p.R297H	ENST00000319332	NM_018192.3	297	cGc/cAc	0	not done		possiblydamaging	
COL3A1		inserm.fr	GRCh37	2	189857638	189857638	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000304636.3:c.1022C>T	p.Ala341Val	p.A341V	ENST00000304636	NM_000090.3	341	gCc/gTc	0	not done		benign	
COL3A1		inserm.fr	GRCh37	2	189868855	189868855	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM791T																					ENST00000304636.3:c.2809G>T	p.Ala937Ser	p.A937S	ENST00000304636	NM_000090.3	937	Gcc/Tcc	0	validated		benign	
COL3A1		inserm.fr	GRCh37	2	189873743	189873743	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC218T																					ENST00000304636.3:c.3619G>T	p.Gly1207Trp	p.G1207W	ENST00000304636	NM_000090.3	1207	Ggg/Tgg	0	validated		possiblydamaging	
FAM5C		inserm.fr	GRCh37	1	190067408	190067408	+	synonymous_variant	Silent	SNP	G	T	T			BCM275T																					ENST00000367462.3:c.2041C>A	p.Arg681=	p.R681=	ENST00000367462	NM_199051.1	681	Cgg/Agg	0	validated		synonymous	
FAM5C		inserm.fr	GRCh37	1	190067587	190067587	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1756T																					ENST00000367462.3:c.1862T>A	p.Phe621Tyr	p.F621Y	ENST00000367462	NM_199051.1	621	tTt/tAt	0	not done		probablydamaging	
FAM5C		inserm.fr	GRCh37	1	190067920	190067920	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC801T																					ENST00000367462.3:c.1529T>A	p.Val510Asp	p.V510D	ENST00000367462	NM_199051.1	510	gTc/gAc	0	not done		probablydamaging	
FAM5C		inserm.fr	GRCh37	1	190068045	190068045	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC258T																					ENST00000367462.3:c.1404G>A	p.Met468Ile	p.M468I	ENST00000367462	NM_199051.1	468	atG/atA	0	validated		benign	
CLDN16		inserm.fr	GRCh37	3	190106218	190106218	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1714T																					ENST00000264734.2:c.310G>T	p.Asp104Tyr	p.D104Y	ENST00000264734	NM_006580.3	104	Gat/Tat	0	not done		probablydamaging	
LSP1		inserm.fr	GRCh37	11	1901319	1901319	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC2099T																					ENST00000381775.1:c.440C>T	p.Pro147Leu	p.P147L	ENST00000381775	NM_001242932.1	147	cCc/cTc	0	not done		benign	
TMEM207		inserm.fr	GRCh37	3	190158097	190158097	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000354905.2:c.240C>A	p.Pro80=	p.P80=	ENST00000354905	NM_207316.1	80	ccC/ccA	0	validated		synonymous	
DGCR2		inserm.fr	GRCh37	22	19029356	19029356	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1592T																					ENST00000263196.7:c.1123C>A	p.Arg375Ser	p.R375S	ENST00000263196	NM_001184781.1	375	Cgc/Agc	0	not done		probablydamaging	
GPR64		inserm.fr	GRCh37	X	19031991	19031991	+	synonymous_variant	Silent	SNP	G	T	T			CHC1592T																					ENST00000379869.3:c.912C>A	p.Pro304=	p.P304=	ENST00000379869	NM_001079858.2	304	ccC/ccA	0	not done		synonymous	
GPR64		inserm.fr	GRCh37	X	19031992	19031992	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1592T																					ENST00000379869.3:c.911C>A	p.Pro304His	p.P304H	ENST00000379869	NM_001079858.2	304	cCc/cAc	0	not done		probablydamaging	
HOMER3		inserm.fr	GRCh37	19	19042851	19042851	+	synonymous_variant	Silent	SNP	G	T	T			CHC303T																					ENST00000539827.1:c.624C>A	p.Ala208=	p.A208=	ENST00000539827		208	gcC/gcA	0	validated		synonymous	
SLC40A1		inserm.fr	GRCh37	2	190430170	190430170	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM489T																					ENST00000261024.2:c.670T>A	p.Trp224Arg	p.W224R	ENST00000261024	NM_014585.5	224	Tgg/Agg	0	validated		probablydamaging	
KIAA1751		inserm.fr	GRCh37	1	1905555	1905555	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC892T																					ENST00000270720.7:n.739G>A		*247*	ENST00000270720				0	not done		benign	
GMNC		inserm.fr	GRCh37	3	190573236	190573236	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM739T																					ENST00000442080.1:c.853C>A	p.His285Asn	p.H285N	ENST00000442080	NM_001146686.2	285	Cat/Aat	0	validated		benign	
TMC7		inserm.fr	GRCh37	16	19058528	19058528	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1148T																					ENST00000304381.5:c.1697C>T	p.Ala566Val	p.A566V	ENST00000304381	NM_024847.3	566	gCa/gTa	0	not done		benign	
PMS1		inserm.fr	GRCh37	2	190728747	190728747	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1079T																					ENST00000441310.2:c.2135A>T	p.Lys712Ile	p.K712I	ENST00000441310	NM_000534.4	712	aAa/aTa	0	not done		benign	
MRGPRX2		inserm.fr	GRCh37	11	19077456	19077456	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1775T																					ENST00000329773.2:c.494G>A	p.Gly165Glu	p.G165E	ENST00000329773	NM_054030.2	165	gGg/gAg	0	validated		possiblydamaging	
DUX4L4		inserm.fr	GRCh37	4	191003031	191003031	+	synonymous_variant	Silent	SNP	C	T	T			CHC912T																					ENST00000538692.1:c.942C>T	p.His314=	p.H314=	ENST00000538692	NM_001177376.2	314	caC/caT	0	validated		synonymous	
PLIN2		inserm.fr	GRCh37	9	19121144	19121144	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000276914.2:c.329G>A	p.Gly110Asp	p.G110D	ENST00000276914	NM_001122.3	110	gGc/gAc	0	not done		benign	
INPP1		inserm.fr	GRCh37	2	191236042	191236042	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1598T																					ENST00000392329.2:c.1114C>T	p.Leu372Phe	p.L372F	ENST00000392329	NM_001128928.1	372	Ctc/Ttc	0	not done		probablydamaging	
ITPRIPL2		inserm.fr	GRCh37	16	19126452	19126452	+	synonymous_variant	Silent	SNP	C	T	T			CHC1040T																					ENST00000381440.3:c.669C>T	p.Gly223=	p.G223=	ENST00000381440	NM_001034841.3	223	ggC/ggT	0	not done		synonymous	
ADAT3		inserm.fr	GRCh37	19	1912662	1912662	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1600T																					ENST00000329478.2:c.616C>T	p.Arg206Trp	p.R206W	ENST00000329478	NM_138422.2	206	Cgg/Tgg	0	not done		probablydamaging	
GSC2		inserm.fr	GRCh37	22	19137352	19137352	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000086933.2:c.337G>A	p.Ala113Thr	p.A113T	ENST00000086933	NM_005315.1	113	Gcg/Acg	0	not done		benign	
GLS		inserm.fr	GRCh37	2	191769757	191769757	+	synonymous_variant	Silent	SNP	C	T	T			CHC614T																					ENST00000320717.3:c.843C>T	p.Pro281=	p.P281=	ENST00000320717	NM_014905.4	281	ccC/ccT	0	validated		synonymous	
STAT1		inserm.fr	GRCh37	2	191839587	191839587	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1725T																					ENST00000361099.3:c.2207G>A	p.Arg736Gln	p.R736Q	ENST00000361099	NM_007315.3	736	cGg/cAg	0	not done		benign	
STAT1		inserm.fr	GRCh37	2	191843581	191843581	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000361099.3:c.1873+1G>A		p.X625_splice	ENST00000361099	NM_007315.3			0	not done		damaging	
FERD3L		inserm.fr	GRCh37	7	19184807	19184807	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000275461.3:c.179G>A	p.Gly60Glu	p.G60E	ENST00000275461	NM_152898.2	60	gGg/gAg	0	not done		benign	
EPN2		inserm.fr	GRCh37	17	19186572	19186572	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM269T									Valid												ENST00000314728.5:c.140C>T	p.Thr47Ile	p.T47I	ENST00000314728	NM_014964.4	47	aCc/aTc	0	validated		probablydamaging	
SYT17		inserm.fr	GRCh37	16	19194940	19194940	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000355377.2:c.422C>T	p.Pro141Leu	p.P141L	ENST00000355377	NM_016524.2	141	cCt/cTt	0	not done		benign	
KIAA1751		inserm.fr	GRCh37	1	1919971	1919971	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000378590.4:c.249G>A	p.Glu83=	p.E83=	ENST00000378590		83	gaG/gaA	0	not done		synonymous	
ALDH4A1		inserm.fr	GRCh37	1	19200990	19200990	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375341.3:c.1546G>A	p.Gly516Ser	p.G516S	ENST00000375341	NM_003748.3	516	Ggc/Agc	0	not done		probablydamaging	
STAT4		inserm.fr	GRCh37	2	192011455	192011455	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000392320.2:c.157G>A	p.Ala53Thr	p.A53T	ENST00000392320	NM_003151.3	53	Gca/Aca	0	not done		probablydamaging	
FGF12		inserm.fr	GRCh37	3	192078252	192078252	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2200T																					ENST00000454309.2:c.275C>A	p.Thr92Asn	p.T92N	ENST00000454309	NM_021032.4	92	aCc/aAc	0	not done		benign	
CLTCL1		inserm.fr	GRCh37	22	19209134	19209134	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC303T									Valid												ENST00000263200.10:c.2562G>A	p.Arg854=	p.R854=	ENST00000263200	NM_007098.3	854	agG/agA	0	validated		possiblydamaging	
RGS18		inserm.fr	GRCh37	1	192128349	192128349	+	splice_acceptor_variant	Splice_Site	SNP	G	T	T			CHC1720T																					ENST00000367460.3:c.120-1G>T		p.X40_splice	ENST00000367460	NM_130782.2			0	not done		possiblydamaging	
CLTCL1		inserm.fr	GRCh37	22	19220724	19220724	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM337T																					ENST00000263200.10:c.1486G>A	p.Gly496Ser	p.G496S	ENST00000263200	NM_007098.3	496	Ggc/Agc	0	validated		probablydamaging	
SLC25A42		inserm.fr	GRCh37	19	19221596	19221596	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC917T																					ENST00000318596.7:c.868A>T	p.Met290Leu	p.M290L	ENST00000318596	NM_178526.4	290	Atg/Ttg	0	validated		benign	
MYO1B		inserm.fr	GRCh37	2	192246258	192246258	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2215T									Valid												ENST00000392318.3:c.1256C>T	p.Thr419Ile	p.T419I	ENST00000392318	NM_001130158.1	419	aCt/aTt	0	validated		probablydamaging	
RGS21		inserm.fr	GRCh37	1	192321219	192321219	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T									Valid												ENST00000417209.2:c.131G>T	p.Ser44Ile	p.S44I	ENST00000417209	NM_001039152.3	44	aGt/aTt	0	validated		probablydamaging	
EPN2		inserm.fr	GRCh37	17	19237354	19237354	+	synonymous_variant	Silent	SNP	A	T	T			CHC1182T																					ENST00000314728.5:c.1713A>T	p.Pro571=	p.P571=	ENST00000314728	NM_014964.4	571	ccA/ccT	0	not done		synonymous	
E2F8		inserm.fr	GRCh37	11	19246850	19246850	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1594T																					ENST00000527884.1:c.2339G>A	p.Gly780Glu	p.G780E	ENST00000527884	NM_001256372.1	780	gGa/gAa	0	not done		benign	
MEF2B		inserm.fr	GRCh37	19	19257589	19257589	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC902T																					ENST00000162023.5:c.637G>A	p.Gly213Ser	p.G213S	ENST00000162023		213	Ggt/Agt	0	not done		benign	
MEF2B		inserm.fr	GRCh37	19	19257899	19257899	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2202T																					ENST00000162023.5:c.487G>A	p.Ala163Thr	p.A163T	ENST00000162023		163	Gcc/Acc	0	validated		probablydamaging	
ZNF596		inserm.fr	GRCh37	8	192938	192938	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000398612.1:c.64G>T	p.Ala22Ser	p.A22S	ENST00000398612	NM_001042415.1	22	Gcc/Tcc	0	not done		benign	
ATP13A5		inserm.fr	GRCh37	3	193031925	193031925	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000342358.4:c.2216G>A	p.Gly739Asp	p.G739D	ENST00000342358	NM_198505.2	739	gGc/gAc	0	not done		possiblydamaging	
CLEC19A		inserm.fr	GRCh37	16	19310000	19310000	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000465414.1:c.94C>T	p.Pro32Ser	p.P32S	ENST00000465414		32	Cca/Tca	0	not done			
ATP13A4		inserm.fr	GRCh37	3	193158369	193158369	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000342695.4:c.2497G>A	p.Val833Met	p.V833M	ENST00000342695	NM_032279.2	833	Gtg/Atg	0	not done		possiblydamaging	
ATP13A4		inserm.fr	GRCh37	3	193183953	193183953	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1754T																					ENST00000342695.4:c.1133G>A	p.Gly378Glu	p.G378E	ENST00000342695	NM_032279.2	378	gGa/gAa	0	not done		probablydamaging	
ATP13A4		inserm.fr	GRCh37	3	193185104	193185104	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC884T									Valid												ENST00000342695.4:c.1114+1G>A		p.X372_splice	ENST00000342695	NM_032279.2			0	validated		damaging	
NCAN		inserm.fr	GRCh37	19	19336000	19336000	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000252575.6:c.993C>T	p.Gly331=	p.G331=	ENST00000252575	NM_004386.2	331	ggC/ggT	0	not done		synonymous	
DENND4C		inserm.fr	GRCh37	9	19352597	19352597	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1183T																					ENST00000602925.1:c.4568C>T	p.Pro1523Leu	p.P1523L	ENST00000602925	NM_017925.5	1523	cCa/cTa	0	not done		probablydamaging	
NCAN		inserm.fr	GRCh37	19	19359520	19359520	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC923T																					ENST00000252575.6:c.3649C>T	p.Pro1217Ser	p.P1217S	ENST00000252575	NM_004386.2	1217	Ccc/Tcc	0	not done		possiblydamaging	
HAPLN4		inserm.fr	GRCh37	19	19372270	19372270	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000291481.7:c.106G>A	p.Val36Ile	p.V36I	ENST00000291481	NM_023002.2	36	Gtc/Atc	0	not done		benign	
LRTM2		inserm.fr	GRCh37	12	1940114	1940114	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1744T																					ENST00000543818.1:c.81G>T	p.Trp27Cys	p.W27C	ENST00000543818	NM_001163926.1	27	tgG/tgT	0	validated		benign	
GP5		inserm.fr	GRCh37	3	194118359	194118359	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1736T																					ENST00000401815.1:c.653G>A	p.Gly218Asp	p.G218D	ENST00000401815		218	gGc/gAc	0	not done		probablydamaging	
UBR4		inserm.fr	GRCh37	1	19426985	19426985	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375254.3:c.13106G>A	p.Gly4369Glu	p.G4369E	ENST00000375254	NM_020765.2	4369	gGg/gAg	0	not done		probablydamaging	
TMEM44		inserm.fr	GRCh37	3	194344317	194344317	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC917T																					ENST00000392432.2:c.466C>A	p.Pro156Thr	p.P156T	ENST00000392432	NM_001166305.1	156	Ccg/Acg	0	validated		possiblydamaging	
SLC47A1		inserm.fr	GRCh37	17	19445798	19445798	+	synonymous_variant	Silent	SNP	G	T	T			CHC902T																					ENST00000270570.4:c.228G>T	p.Leu76=	p.L76=	ENST00000270570	NM_018242.2	76	ctG/ctT	0	not done		synonymous	
DPH1		inserm.fr	GRCh37	17	1945136	1945136	+	synonymous_variant	Silent	SNP	G	T	T			CHC703T																					ENST00000263083.6:c.1317G>T	p.Ala439=	p.A439=	ENST00000263083	NM_001383.3	439	gcG/gcT	0	not done		synonymous	
TMC5		inserm.fr	GRCh37	16	19451725	19451725	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000396229.2:c.365C>T	p.Ser122Leu	p.S122L	ENST00000396229	NM_001105248.1	122	tCa/tTa	0	not done		benign	
TMC5		inserm.fr	GRCh37	16	19452014	19452014	+	synonymous_variant	Silent	SNP	C	T	T			CHC891T																					ENST00000396229.2:c.654C>T	p.Pro218=	p.P218=	ENST00000396229	NM_001105248.1	218	ccC/ccT	0	not done		synonymous	
UBR4		inserm.fr	GRCh37	1	19467366	19467366	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375254.3:c.8509G>A	p.Gly2837Ser	p.G2837S	ENST00000375254	NM_020765.2	2837	Ggc/Agc	0	not done		probablydamaging	
KCNH8		inserm.fr	GRCh37	3	19491739	19491739	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1207T																					ENST00000328405.2:c.1517G>T	p.Arg506Met	p.R506M	ENST00000328405	NM_144633.2	506	aGg/aTg	0	not done		probablydamaging	
KCNH8		inserm.fr	GRCh37	3	19491740	19491740	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1207T																					ENST00000328405.2:c.1518G>T	p.Arg506Ser	p.R506S	ENST00000328405	NM_144633.2	506	agG/agT	0	not done		probablydamaging	
KCNH8		inserm.fr	GRCh37	3	19492682	19492682	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000328405.2:c.1611C>T	p.Asp537=	p.D537=	ENST00000328405	NM_144633.2	537	gaC/gaT	0	not done		synonymous	
TMC5		inserm.fr	GRCh37	16	19501748	19501748	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC205T									Valid												ENST00000396229.2:c.2605C>T	p.Arg869Ter	p.R869*	ENST00000396229	NM_001105248.1	869	Cga/Tga	0	validated		damaging	
KBTBD11		inserm.fr	GRCh37	8	1950575	1950575	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1725T																					ENST00000320248.3:c.1217G>T	p.Arg406Leu	p.R406L	ENST00000320248	NM_014867.2	406	cGg/cTg	0	not done		possiblydamaging	
CLDN5		inserm.fr	GRCh37	22	19511537	19511537	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC898T																					ENST00000406028.1:c.497G>A	p.Arg166Gln	p.R166Q	ENST00000406028		166	cGg/cAg	0	not done		probablydamaging	
UBR4		inserm.fr	GRCh37	1	19524231	19524231	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000375254.3:c.826G>A	p.Ala276Thr	p.A276T	ENST00000375254	NM_020765.2	276	Gca/Aca	0	validated		probablydamaging	
SLC24A2		inserm.fr	GRCh37	9	19528135	19528135	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	T	T			CHC889T																					ENST00000341998.2:c.1481C>A	p.Ser494Ter	p.S494*	ENST00000341998	NM_001193288.2	494	tCa/tAa	0	not done		damaging	
CDH18		inserm.fr	GRCh37	5	19543989	19543989	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC432T																					ENST00000507958.1:c.1379C>A	p.Ala460Asp	p.A460D	ENST00000507958		460	gCt/gAt	0	not done		probablydamaging	
MUC4		inserm.fr	GRCh37	3	195515435	195515435	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM257T																					ENST00000463781.3:c.3016G>A	p.Ala1006Thr	p.A1006T	ENST00000463781	NM_018406.6	1006	Gcc/Acc	0	validated		benign	
MUC4		inserm.fr	GRCh37	3	195515531	195515531	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2128T																					ENST00000463781.3:c.2920G>A	p.Ala974Thr	p.A974T	ENST00000463781	NM_018406.6	974	Gcc/Acc	0	not done		possiblydamaging	
ALDH3A2		inserm.fr	GRCh37	17	19552354	19552354	+	synonymous_variant	Silent	SNP	C	T	T			BCB301T																					ENST00000339618.4:c.70C>T	p.Leu24=	p.L24=	ENST00000339618	NM_001031806.1	24	Ctg/Ttg	0	validated		synonymous	
CP110		inserm.fr	GRCh37	16	19554034	19554034	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC313T									Valid												ENST00000381396.5:c.2319A>T	p.Lys773Asn	p.K773N	ENST00000381396	NM_001199022.1	773	aaA/aaT	0	validated		probablydamaging	
CCP110		inserm.fr	GRCh37	16	19559311	19559311	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000381396.5:c.2875G>T	p.Val959Phe	p.V959F	ENST00000381396	NM_001199022.1	959	Gtt/Ttt	0	not done		possiblydamaging	
TNK2		inserm.fr	GRCh37	3	195595036	195595036	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000381916.2:c.2322G>A	p.Lys774=	p.K774=	ENST00000381916	NM_001010938.1	774	aaG/aaA	0	not done		synonymous	
TNK2		inserm.fr	GRCh37	3	195622265	195622265	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000381916.2:c.23G>A	p.Arg8Lys	p.R8K	ENST00000381916	NM_001010938.1	8	aGg/aAg	0	not done		benign	
SLC24A3		inserm.fr	GRCh37	20	19566121	19566121	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000328041.6:c.545C>T	p.Thr182Ile	p.T182I	ENST00000328041	NM_020689.3	182	aCc/aTc	0	not done		probablydamaging	
ALDH3A2		inserm.fr	GRCh37	17	19568351	19568351	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1741T																					ENST00000339618.4:c.1198G>T	p.Gly400Ter	p.G400*	ENST00000339618	NM_001031806.1	400	Gga/Tga	0	not done		damaging	
ALDH3A2		inserm.fr	GRCh37	17	19568352	19568352	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1741T																					ENST00000339618.4:c.1199G>T	p.Gly400Val	p.G400V	ENST00000339618	NM_001031806.1	400	gGa/gTa	0	not done		probablydamaging	
WHSC1		inserm.fr	GRCh37	4	1956926	1956926	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1044T																					ENST00000382891.5:c.2377C>T	p.His793Tyr	p.H793Y	ENST00000382891	NM_133335.3	793	Cac/Tac	0	not done		probablydamaging	
CDH18		inserm.fr	GRCh37	5	19571775	19571775	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCB167T																					ENST00000507958.1:c.1166T>A	p.Leu389His	p.L389H	ENST00000507958		389	cTc/cAc	0	validated		benign	
KCNH8		inserm.fr	GRCh37	3	19575002	19575002	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2052T																					ENST00000328405.2:c.2735G>T	p.Ser912Ile	p.S912I	ENST00000328405	NM_144633.2	912	aGc/aTc	0	not done		benign	
KCNH8		inserm.fr	GRCh37	3	19575254	19575254	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000328405.2:c.2987C>T	p.Ser996Phe	p.S996F	ENST00000328405	NM_144633.2	996	tCc/tTc	0	not done		benign	
AEBP2		inserm.fr	GRCh37	12	19593083	19593083	+	synonymous_variant	Silent	SNP	G	T	T			CHC1744T																					ENST00000398864.3:c.450G>T	p.Gly150=	p.G150=	ENST00000398864	NM_001114176.1	150	ggG/ggT	0	not done		synonymous	
HIC1		inserm.fr	GRCh37	17	1960933	1960933	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000322941.3:c.1006C>T	p.Pro336Ser	p.P336S	ENST00000322941	NM_001098202.1	336	Ccg/Tcg	0	not done		benign	
HIC1		inserm.fr	GRCh37	17	1961380	1961380	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000322941.3:c.1453C>T	p.Pro485Ser	p.P485S	ENST00000322941	NM_001098202.1	485	Cct/Tct	0	not done		probablydamaging	
C10orf112		inserm.fr	GRCh37	10	19620376	19620376	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000377266.3:c.1693C>T	p.Pro565Ser	p.P565S	ENST00000377266		565	Cct/Tct	0	not done			
SH3KBP1		inserm.fr	GRCh37	X	19626070	19626070	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000397821.3:c.991G>A	p.Glu331Lys	p.E331K	ENST00000397821	NM_031892.2	331	Gaa/Aaa	0	not done		benign	
CHODL		inserm.fr	GRCh37	21	19635106	19635106	+	splice_acceptor_variant	Splice_Site	SNP	A	T	T			CHC736T									Valid												ENST00000299295.2:c.635-2A>T		p.X212_splice	ENST00000299295	NM_001204175.1			0	validated		damaging	
NRROS		inserm.fr	GRCh37	3	196381488	196381488	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000328557.4:c.78C>T	p.Ala26=	p.A26=	ENST00000328557	NM_198565.1	26	gcC/gcT	0	not done		synonymous	
AKR7A2		inserm.fr	GRCh37	1	19638557	19638557	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM791T																					ENST00000235835.3:c.62C>A	p.Pro21Gln	p.P21Q	ENST00000235835	NM_003689.3	21	cCg/cAg	0	validated		benign	
NDUFA13		inserm.fr	GRCh37	19	19638903	19638903	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2351T																					ENST00000507754.4:c.403C>T	p.His135Tyr	p.H135Y	ENST00000507754		135	Cat/Tat	0	not done			
TMPRSS15		inserm.fr	GRCh37	21	19642442	19642442	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			BCM711T																					ENST00000284885.3:c.2905-1G>A		p.X969_splice	ENST00000284885	NM_002772.2			0	validated		damaging	
ALDH3A1		inserm.fr	GRCh37	17	19644432	19644432	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM337T																					ENST00000457500.2:c.781G>A	p.Val261Met	p.V261M	ENST00000457500	NM_001135168.1	261	Gtg/Atg	0	validated		probablydamaging	
YJEFN3		inserm.fr	GRCh37	19	19645914	19645914	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000514277.4:c.390G>T	p.Gly130=	p.G130=	ENST00000514277	NM_198537.3	130	ggG/ggT	0	not done		synonymous	
YJEFN3		inserm.fr	GRCh37	19	19646469	19646469	+	synonymous_variant	Silent	SNP	G	T	T			CHC2115T																					ENST00000514277.4:c.675G>T	p.Val225=	p.V225=	ENST00000514277	NM_198537.3	225	gtG/gtT	0	not done		synonymous	
ALDH3A1		inserm.fr	GRCh37	17	19648424	19648424	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000457500.2:c.19G>A	p.Ala7Thr	p.A7T	ENST00000457500	NM_001135168.1	7	Gcc/Acc	0	not done		benign	
CILP2		inserm.fr	GRCh37	19	19652043	19652043	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC451T																					ENST00000291495.5:c.580C>T	p.Pro194Ser	p.P194S	ENST00000291495	NM_153221.2	194	Cct/Tct	0	validated		benign	
PAK2		inserm.fr	GRCh37	3	196529968	196529968	+	synonymous_variant	Silent	SNP	G	T	T			CHC2098T																					ENST00000327134.3:c.369G>T	p.Val123=	p.V123=	ENST00000327134	NM_002577.4	123	gtG/gtT	0	not done		synonymous	
CILP2		inserm.fr	GRCh37	19	19653330	19653330	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM399T									Valid												ENST00000291495.5:c.739C>T	p.Arg247Trp	p.R247W	ENST00000291495	NM_153221.2	247	Cgg/Tgg	0	validated		probablydamaging	
PQLC2		inserm.fr	GRCh37	1	19653849	19653849	+	synonymous_variant	Silent	SNP	G	T	T			CHC2043T																					ENST00000375153.3:c.747G>T	p.Leu249=	p.L249=	ENST00000375153	NM_001040125.1	249	ctG/ctT	0	validated		synonymous	
SENP5		inserm.fr	GRCh37	3	196612526	196612526	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB109T																					ENST00000323460.5:c.474G>T	p.Arg158Ser	p.R158S	ENST00000323460	NM_152699.4	158	agG/agT	0	validated		benign	
SENP5		inserm.fr	GRCh37	3	196612958	196612958	+	synonymous_variant	Silent	SNP	G	T	T			CHC1186T																					ENST00000323460.5:c.906G>T	p.Arg302=	p.R302=	ENST00000323460	NM_152699.4	302	cgG/cgT	0	not done		synonymous	
CFH		inserm.fr	GRCh37	1	196658724	196658724	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1594T																					ENST00000367429.4:c.1139C>T	p.Ser380Leu	p.S380L	ENST00000367429	NM_000186.3	380	tCg/tTg	0	not done		probablydamaging	
DNAH7		inserm.fr	GRCh37	2	196681550	196681550	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1629T																					ENST00000312428.6:c.9563T>A	p.Val3188Glu	p.V3188E	ENST00000312428	NM_018897.2	3188	gTa/gAa	0	not done		possiblydamaging	
CFH		inserm.fr	GRCh37	1	196695940	196695940	+	synonymous_variant	Silent	SNP	C	T	T			CHC1205T																					ENST00000367429.4:c.2106C>T	p.Ala702=	p.A702=	ENST00000367429	NM_000186.3	702	gcC/gcT	0	not done		synonymous	
DNAH7		inserm.fr	GRCh37	2	196723501	196723501	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC798T									Valid												ENST00000312428.6:c.7764T>A	p.Tyr2588Ter	p.Y2588*	ENST00000312428	NM_018897.2	2588	taT/taA	0	validated		damaging	
DNAH7		inserm.fr	GRCh37	2	196726462	196726462	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2052T																					ENST00000312428.6:c.7715T>A	p.Leu2572Gln	p.L2572Q	ENST00000312428	NM_018897.2	2572	cTg/cAg	0	not done		benign	
DNAH7		inserm.fr	GRCh37	2	196738409	196738409	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1595T																					ENST00000312428.6:c.6296G>A	p.Arg2099Gln	p.R2099Q	ENST00000312428	NM_018897.2	2099	cGa/cAa	0	validated		probablydamaging	
MFI2		inserm.fr	GRCh37	3	196746590	196746590	+	intron_variant	Intron	SNP	C	T	T			CHC2127T																					ENST00000296350.5:c.712+1685G>A		*238*	ENST00000296350	NM_005929.5			0	not done		synonymous	
MFI2		inserm.fr	GRCh37	3	196749902	196749902	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000296350.5:c.570G>A	p.Arg190=	p.R190=	ENST00000296350	NM_005929.5	190	agG/agA	0	not done		synonymous	
PBX4		inserm.fr	GRCh37	19	19680309	19680309	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1751T																					ENST00000251203.9:c.717C>A	p.Ser239Arg	p.S239R	ENST00000251203	NM_025245.2	239	agC/agA	0	not done		probablydamaging	
PBX4		inserm.fr	GRCh37	19	19681023	19681023	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1041T																					ENST00000251203.9:c.527G>A	p.Arg176His	p.R176H	ENST00000251203	NM_025245.2	176	cGc/cAc	0	validated		benign	
SMG6		inserm.fr	GRCh37	17	1968886	1968886	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC302T																					ENST00000263073.6:c.3923G>A	p.Arg1308His	p.R1308H	ENST00000263073	NM_017575.4	1308	cGc/cAc	0	validated		probablydamaging	
F13B		inserm.fr	GRCh37	1	197021884	197021884	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000367412.1:c.1435G>A	p.Gly479Arg	p.G479R	ENST00000367412	NM_001994.2	479	Gga/Aga	0	validated		probablydamaging	
ASPM		inserm.fr	GRCh37	1	197070931	197070931	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1186T																					ENST00000367409.4:c.7450G>A	p.Ala2484Thr	p.A2484T	ENST00000367409	NM_018136.4	2484	Gca/Aca	0	not done		probablydamaging	
ASPM		inserm.fr	GRCh37	1	197071003	197071003	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2110Tbis																					ENST00000367409.4:c.7378G>A	p.Ala2460Thr	p.A2460T	ENST00000367409	NM_018136.4	2460	Gca/Aca	0	not done		probablydamaging	
ASPM		inserm.fr	GRCh37	1	197091388	197091388	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000367409.4:c.3642G>A	p.Lys1214=	p.K1214=	ENST00000367409	NM_018136.4	1214	aaG/aaA	0	not done		synonymous	
SEPT5		inserm.fr	GRCh37	22	19709421	19709421	+	synonymous_variant	Silent	SNP	C	T	T			CHC303T																					ENST00000455784.2:c.891C>T	p.Asp297=	p.D297=	ENST00000455784	NM_002688.5	297	gaC/gaT	0	validated		damaging	
ASPM		inserm.fr	GRCh37	1	197104349	197104349	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM339T																					ENST00000367409.4:c.2050T>A	p.Phe684Ile	p.F684I	ENST00000367409	NM_018136.4	684	Ttt/Att	0	validated		probablydamaging	
HECW2		inserm.fr	GRCh37	2	197118648	197118648	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000260983.3:c.3525G>A	p.Ser1175=	p.S1175=	ENST00000260983	NM_020760.1	1175	tcG/tcA	0	not done		synonymous	
CAPZB		inserm.fr	GRCh37	1	19712010	19712010	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000375142.1:c.204G>A	p.Gly68=	p.G68=	ENST00000375142	NM_001206540.1	68	ggG/ggA	0	not done		synonymous	
TMPRSS15		inserm.fr	GRCh37	21	19713805	19713805	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1624T																					ENST00000284885.3:c.1489C>A	p.Leu497Ile	p.L497I	ENST00000284885	NM_002772.2	497	Cta/Ata	0	validated		probablydamaging	
ZBTB41		inserm.fr	GRCh37	1	197168579	197168579	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000367405.4:c.1025G>A	p.Gly342Glu	p.G342E	ENST00000367405	NM_194314.2	342	gGa/gAa	0	not done		probablydamaging	
ZBTB41		inserm.fr	GRCh37	1	197168896	197168896	+	synonymous_variant	Silent	SNP	C	T	T			CHC1205T																					ENST00000367405.4:c.708G>A	p.Gly236=	p.G236=	ENST00000367405	NM_194314.2	236	ggG/ggA	0	not done		synonymous	
CRB1		inserm.fr	GRCh37	1	197313512	197313512	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000367400.3:c.754C>T	p.Pro252Ser	p.P252S	ENST00000367400	NM_201253.2	252	Cct/Tct	0	not done		benign	
GMIP		inserm.fr	GRCh37	19	19740975	19740975	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1629T																					ENST00000203556.4:c.2710C>A	p.Pro904Thr	p.P904T	ENST00000203556	NM_016573.2	904	Ccc/Acc	0	not done		benign	
KIAA0226		inserm.fr	GRCh37	3	197444998	197444998	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000296343.5:c.69G>A	p.Arg23=	p.R23=	ENST00000296343	NM_014687.1	23	agG/agA	0	not done		synonymous	
IQCK		inserm.fr	GRCh37	16	19746711	19746711	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000320394.6:c.413C>T	p.Pro138Leu	p.P138L	ENST00000320394	NM_153208.1	138	cCt/cTt	0	not done		probablydamaging	
GMIP		inserm.fr	GRCh37	19	19748816	19748816	+	synonymous_variant	Silent	SNP	C	T	T			CHC1915T																					ENST00000203556.4:c.840G>A	p.Ala280=	p.A280=	ENST00000203556	NM_016573.2	280	gcG/gcA	0	validated		synonymous	
LRCH3		inserm.fr	GRCh37	3	197557705	197557705	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1148T																					ENST00000334859.4:c.952A>T	p.Ser318Cys	p.S318C	ENST00000334859	NM_032773.2	318	Agt/Tgt	0	not done		probablydamaging	
ATP13A1		inserm.fr	GRCh37	19	19757090	19757090	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000357324.6:c.3172G>A	p.Val1058Ile	p.V1058I	ENST00000357324	NM_020410.2	1058	Gtc/Atc	0	not done		possiblydamaging	
TMEM196		inserm.fr	GRCh37	7	19765300	19765300	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000405764.3:c.296C>A	p.Ser99Tyr	p.S99Y	ENST00000405764	NM_152774.3	99	tCc/tAc	0	not done		benign	
LMLN		inserm.fr	GRCh37	3	197710903	197710903	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1611T																					ENST00000420910.2:c.818A>T	p.Glu273Val	p.E273V	ENST00000420910	NM_001136049.2	273	gAg/gTg	0	not done		probablydamaging	
TMPRSS15		inserm.fr	GRCh37	21	19775797	19775797	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC1601T																					ENST00000284885.3:c.143G>A	p.Arg48Gln	p.R48Q	ENST00000284885	NM_002772.2	48	cGa/cAa	0	not done		benign	
TMPRSS15		inserm.fr	GRCh37	21	19775909	19775909	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1747T																					ENST00000284885.3:c.31C>A	p.His11Asn	p.H11N	ENST00000284885	NM_002772.2	11	Cat/Aat	0	not done		probablydamaging	
PGAP1		inserm.fr	GRCh37	2	197777729	197777729	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000354764.4:c.526G>A	p.Gly176Ser	p.G176S	ENST00000354764	NM_024989.3	176	Ggt/Agt	0	not done		probablydamaging	
LHX9		inserm.fr	GRCh37	1	197887005	197887005	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000367387.4:c.52C>T	p.Pro18Ser	p.P18S	ENST00000367387	NM_020204.2	18	Cca/Tca	0	not done		benign	
GNB1L		inserm.fr	GRCh37	22	19799890	19799890	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000329517.6:c.335G>A	p.Ser112Asn	p.S112N	ENST00000329517	NM_053004.2	112	aGt/aAt	0	not done		possiblydamaging	
GNB1L		inserm.fr	GRCh37	22	19808791	19808791	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2213T																					ENST00000329517.6:c.88G>A	p.Glu30Lys	p.E30K	ENST00000329517	NM_053004.2	30	Gaa/Aaa	0	validated		benign	
ZNF14		inserm.fr	GRCh37	19	19822633	19822633	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2141T																					ENST00000344099.3:c.1457G>A	p.Arg486His	p.R486H	ENST00000344099	NM_021030.2	486	cGt/cAt	0	not done		possiblydamaging	
SF3B1		inserm.fr	GRCh37	2	198267402	198267402	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB231T																					ENST00000335508.6:c.1955G>A	p.Cys652Tyr	p.C652Y	ENST00000335508	NM_012433.2	652	tGc/tAc	0	validated		probablydamaging	
C22orf29		inserm.fr	GRCh37	22	19839774	19839774	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000405640.1:c.11G>A	p.Gly4Asp	p.G4D	ENST00000405640		4	gGc/gAc	0	not done		probablydamaging	
RFTN2		inserm.fr	GRCh37	2	198482547	198482547	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000295049.4:c.1027G>A	p.Val343Ile	p.V343I	ENST00000295049	NM_144629.2	343	Gta/Ata	0	not done		probablydamaging	
RFTN2		inserm.fr	GRCh37	2	198495921	198495921	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000295049.4:c.742G>A	p.Val248Ile	p.V248I	ENST00000295049	NM_144629.2	248	Gtc/Atc	0	not done		possiblydamaging	
RFTN2		inserm.fr	GRCh37	2	198540127	198540127	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2110Tbis																					ENST00000295049.4:c.56T>A	p.Ile19Lys	p.I19K	ENST00000295049	NM_144629.2	19	aTa/aAa	0	not done		probablydamaging	
AKAP10		inserm.fr	GRCh37	17	19861794	19861794	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC799T																					ENST00000225737.6:c.410C>A	p.Pro137His	p.P137H	ENST00000225737	NM_007202.3	137	cCt/cAt	0	not done		probablydamaging	
BOLL		inserm.fr	GRCh37	2	198636612	198636612	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T																					ENST00000409845.1:c.193A>T	p.Ser65Cys	p.S65C	ENST00000409845		65	Agt/Tgt	0	validated		synonymous	
BOLL		inserm.fr	GRCh37	2	198641837	198641837	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000321801.7:c.258G>A	p.Gly86=	p.G86=	ENST00000321801	NM_197970.2	86	ggG/ggA	0	not done		damaging	
PTPRC		inserm.fr	GRCh37	1	198663216	198663216	+	intron_variant	Intron	SNP	G	T	T			CHC097T																					ENST00000442510.2:c.100+1714G>T		*34*	ENST00000442510				0	not done			
GPRC5B		inserm.fr	GRCh37	16	19883213	19883213	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000300571.2:c.955G>A	p.Ala319Thr	p.A319T	ENST00000300571	NM_016235.1	319	Gcc/Acc	0	not done		possiblydamaging	
PLCL1		inserm.fr	GRCh37	2	198948855	198948855	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000428675.1:c.614C>T	p.Ala205Val	p.A205V	ENST00000428675	NM_006226.3	205	gCc/gTc	0	not done		probablydamaging	
BTBD2		inserm.fr	GRCh37	19	1990820	1990820	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC2127T																					ENST00000255608.4:c.686C>A	p.Ala229Glu	p.A229E	ENST00000255608	NM_017797.3	229	gCg/gAg	0	validated		probablydamaging	
EFHB		inserm.fr	GRCh37	3	19930029	19930029	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1597T																					ENST00000295824.9:c.1840G>A	p.Asp614Asn	p.D614N	ENST00000295824	NM_144715.3	614	Gat/Aat	0	not done		possiblydamaging	
ODF3		inserm.fr	GRCh37	11	199455	199455	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1745T																					ENST00000325113.4:c.621G>T	p.Glu207Asp	p.E207D	ENST00000325113	NM_053280.3	207	gaG/gaT	0	not done		benign	
COMT		inserm.fr	GRCh37	22	19950145	19950145	+	synonymous_variant	Silent	SNP	C	T	T			CHC2362T																					ENST00000361682.6:c.96C>T	p.Gly32=	p.G32=	ENST00000361682	NM_000754.3	32	ggC/ggT	0	validated		synonymous	
RIN2		inserm.fr	GRCh37	20	19955959	19955959	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000255006.6:c.1437C>T	p.Ser479=	p.S479=	ENST00000255006	NM_018993.3	479	agC/agT	0	validated		synonymous	
CXorf23		inserm.fr	GRCh37	X	19984579	19984579	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2211T																					ENST00000379687.3:c.230G>A	p.Arg77Lys	p.R77K	ENST00000379687	NM_198279.3	77	aGa/aAa	0	not done		probablydamaging	
HTR6		inserm.fr	GRCh37	1	19992829	19992829	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000289753.1:c.583C>T	p.Leu195Phe	p.L195F	ENST00000289753	NM_000871.1	195	Ctc/Ttc	0	not done		possiblydamaging	
POTEM		inserm.fr	GRCh37	14	20019828	20019828	+	synonymous_variant	Silent	SNP	C	T	T			CHC302T																					ENST00000551509.1:c.393G>A	p.Pro131=	p.P131=	ENST00000551509	NM_001145442.1	131	ccG/ccA	0	validated		synonymous	
CRNKL1		inserm.fr	GRCh37	20	20022978	20022978	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000377340.2:c.1638G>A	p.Leu546=	p.L546=	ENST00000377340	NM_016652.5	546	ttG/ttA	0	not done		synonymous	
SATB2		inserm.fr	GRCh37	2	200245174	200245174	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000417098.1:c.510G>A	p.Trp170Ter	p.W170*	ENST00000417098	NM_001172509.1	170	tgG/tgA	0	not done		damaging	
RPL3L		inserm.fr	GRCh37	16	2002960	2002960	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1079T																					ENST00000268661.7:c.280G>A	p.Ala94Thr	p.A94T	ENST00000268661	NM_005061.2	94	Gcc/Acc	0	validated		benign	
RPL3L		inserm.fr	GRCh37	16	2004123	2004123	+	synonymous_variant	Silent	SNP	C	T	T			CHC2141T																					ENST00000268661.7:c.30G>A	p.Arg10=	p.R10=	ENST00000268661	NM_005061.2	10	cgG/cgA	0	not done		synonymous	
KIF14		inserm.fr	GRCh37	1	200583508	200583508	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000367350.4:c.1393G>A	p.Gly465Arg	p.G465R	ENST00000367350	NM_014875.2	465	Gga/Aga	0	not done		probablydamaging	
DDX59		inserm.fr	GRCh37	1	200613454	200613454	+	synonymous_variant	Silent	SNP	C	T	T			BCM735T																					ENST00000331314.6:c.1788G>A	p.Gln596=	p.Q596=	ENST00000331314	NM_001031725.4	596	caG/caA	0	validated		synonymous	
TMCO4		inserm.fr	GRCh37	1	20066323	20066323	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000294543.6:c.1173G>A	p.Arg391=	p.R391=	ENST00000294543	NM_181719.4	391	cgG/cgA	0	not done		synonymous	
TMCO4		inserm.fr	GRCh37	1	20073018	20073018	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000294543.6:c.688G>A	p.Ala230Thr	p.A230T	ENST00000294543	NM_181719.4	230	Gct/Act	0	not done		possiblydamaging	
CAMSAP2		inserm.fr	GRCh37	1	200801874	200801874	+	synonymous_variant	Silent	SNP	G	T	T			CHC1010T																					ENST00000358823.2:c.828G>T	p.Leu276=	p.L276=	ENST00000358823	NM_203459.1	276	ctG/ctT	0	not done		synonymous	
CAMSAP2		inserm.fr	GRCh37	1	200826905	200826905	+	synonymous_variant	Silent	SNP	C	T	T			CHC1081T																					ENST00000358823.2:c.4155C>T	p.Asn1385=	p.N1385=	ENST00000358823	NM_203459.1	1385	aaC/aaT	0	validated		synonymous	
C1orf106		inserm.fr	GRCh37	1	200868648	200868648	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1732T																					ENST00000413687.2:c.103C>T	p.His35Tyr	p.H35Y	ENST00000413687	NM_001142569.2	35	Cac/Tac	0	validated		benign	
KIF21B		inserm.fr	GRCh37	1	200974458	200974458	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2128T																					ENST00000422435.2:c.710G>A	p.Arg237His	p.R237H	ENST00000422435	NM_001252100.1	237	cGc/cAc	0	not done		probablydamaging	
TTC32		inserm.fr	GRCh37	2	20101588	20101588	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC902T																					ENST00000333610.3:c.28G>A	p.Ala10Thr	p.A10T	ENST00000333610	NM_001008237.1	10	Gca/Aca	0	not done		benign	
RANBP1		inserm.fr	GRCh37	22	20109805	20109805	+	synonymous_variant	Silent	SNP	A	T	T			BCM695T																					ENST00000331821.3:c.171A>T	p.Arg57=	p.R57=	ENST00000331821		57	cgA/cgT	0	validated		synonymous	
TMEM9		inserm.fr	GRCh37	1	201104822	201104822	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1041T									Valid												ENST00000367330.1:c.521C>A	p.Thr174Lys	p.T174K	ENST00000367330	NM_001288565.1	174	aCa/aAa	0	validated		probablydamaging	
TMEM9		inserm.fr	GRCh37	1	201104936	201104936	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000367330.1:c.407G>A	p.Arg136His	p.R136H	ENST00000367330	NM_001288565.1	136	cGc/cAc	0	validated		benign	
IGFN1		inserm.fr	GRCh37	1	201176301	201176301	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000335211.4:c.2280C>T	p.Cys760=	p.C760=	ENST00000335211	NM_001164586.1	760	tgC/tgT	0	not done		synonymous	
IGFN1		inserm.fr	GRCh37	1	201184676	201184676	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000335211.4:c.9005C>T	p.Thr3002Ile	p.T3002I	ENST00000335211	NM_001164586.1	3002	aCc/aTc	0	not done		benign	
IGFN1		inserm.fr	GRCh37	1	201184682	201184682	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000335211.4:c.9011C>T	p.Ala3004Val	p.A3004V	ENST00000335211	NM_001164586.1	3004	gCt/gTt	0	not done		probablydamaging	
IGFN1		inserm.fr	GRCh37	1	201196132	201196132	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM759T																					ENST00000335211.4:c.10909G>T	p.Val3637Leu	p.V3637L	ENST00000335211	NM_001164586.1	3637	Gtg/Ttg	0	validated		possiblydamaging	
TNNT2		inserm.fr	GRCh37	1	201332480	201332480	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000509001.1:c.514G>A	p.Ala172Thr	p.A172T	ENST00000509001	NM_001276347.1	172	Gcc/Acc	0	not done		probablydamaging	
C20orf26		inserm.fr	GRCh37	20	20140054	20140054	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2215T																					ENST00000245957.5:c.992C>T	p.Thr331Ile	p.T331I	ENST00000245957	NM_015585.3	331	aCa/aTa	0	not done		benign	
NIF3L1		inserm.fr	GRCh37	2	201756832	201756832	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1626T																					ENST00000409020.1:c.166G>T	p.Val56Leu	p.V56L	ENST00000409020		56	Gtg/Ttg	0	not done		probablydamaging	
IPO9		inserm.fr	GRCh37	1	201798376	201798376	+	synonymous_variant	Silent	SNP	G	T	T			CHC1602T																					ENST00000361565.4:c.39G>T	p.Leu13=	p.L13=	ENST00000361565	NM_018085.4	13	ctG/ctT	0	not done		synonymous	
RNF151		inserm.fr	GRCh37	16	2018632	2018632	+	synonymous_variant	Silent	SNP	C	T	T			CHC1591T																					ENST00000569714.1:c.444C>T	p.Ala148=	p.A148=	ENST00000569714	NM_174903.4	148	gcC/gcT	0	not done		synonymous	
TIMM17A		inserm.fr	GRCh37	1	201926657	201926657	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC307T																					ENST00000367287.4:c.145C>T	p.Arg49Ter	p.R49*	ENST00000367287	NM_006335.2	49	Cga/Tga	0	validated		damaging	
KAT2B		inserm.fr	GRCh37	3	20193898	20193898	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCB301T																					ENST00000263754.4:c.2380C>T	p.Arg794Ter	p.R794*	ENST00000263754	NM_003884.4	794	Cga/Tga	0	validated		damaging	
RNPEP		inserm.fr	GRCh37	1	201951948	201951948	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1185T																					ENST00000295640.4:c.154C>T	p.Pro52Ser	p.P52S	ENST00000295640	NM_020216.3	52	Ccc/Tcc	0	not done		possiblydamaging	
ELF3		inserm.fr	GRCh37	1	201981240	201981240	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC917T																					ENST00000359651.3:c.319C>T	p.Leu107Phe	p.L107F	ENST00000359651		107	Ctt/Ttt	0	validated		possiblydamaging	
MACC1		inserm.fr	GRCh37	7	20199114	20199114	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB151T									Valid												ENST00000400331.5:c.870G>A	p.Met290Ile	p.M290I	ENST00000400331	NM_182762.3	290	atG/atA	0	validated		possiblydamaging	
MACC1		inserm.fr	GRCh37	7	20199128	20199128	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB307T																					ENST00000400331.5:c.856C>A	p.Leu286Ile	p.L286I	ENST00000400331	NM_182762.3	286	Ctt/Att	0	validated		benign	
MACC1		inserm.fr	GRCh37	7	20199427	20199427	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000400331.5:c.557G>A	p.Arg186His	p.R186H	ENST00000400331	NM_182762.3	186	cGc/cAc	0	validated		possiblydamaging	
MACC1		inserm.fr	GRCh37	7	20199481	20199481	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			BCM337T																					ENST00000400331.5:c.503T>A	p.Leu168Ter	p.L168*	ENST00000400331	NM_182762.3	168	tTa/tAa	0	validated		damaging	
SPECC1		inserm.fr	GRCh37	17	20200361	20200361	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261503.5:c.3028C>T	p.Pro1010Ser	p.P1010S	ENST00000261503	NM_001033553.2	1010	Ccc/Tcc	0	not done		probablydamaging	
RPS6KA3		inserm.fr	GRCh37	X	20204489	20204489	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	T	T			CHC898T									Valid												ENST00000379565.3:c.775-5T>A		p.X259_splice	ENST00000379565	NM_004586.2			0	validated		damaging	
RPS6KA3		inserm.fr	GRCh37	X	20205954	20205954	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1044T									Valid												ENST00000379565.3:c.766G>A	p.Val256Met	p.V256M	ENST00000379565	NM_004586.2	256	Gtg/Atg	0	not done		probablydamaging	
RPS6KA3		inserm.fr	GRCh37	X	20205972	20205972	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1053T									Valid												ENST00000379565.3:c.748G>A	p.Asp250Asn	p.D250N	ENST00000379565	NM_004586.2	250	Gac/Aac	0	validated		probablydamaging	
RPS6KA3		inserm.fr	GRCh37	X	20206044	20206044	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC434T									Valid												ENST00000379565.3:c.676T>A	p.Tyr226Asn	p.Y226N	ENST00000379565	NM_004586.2	226	Tat/Aat	0	validated		possiblydamaging	
CASP8		inserm.fr	GRCh37	2	202131411	202131411	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1714T																					ENST00000358485.4:c.379C>T	p.Arg127Ter	p.R127*	ENST00000358485	NM_001080125.1	127	Cga/Tga	0	not done		damaging	
ALS2CR12		inserm.fr	GRCh37	2	202154458	202154458	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2098T																					ENST00000405148.2:c.1062C>A	p.Asn354Lys	p.N354K	ENST00000405148	NM_139163.2	354	aaC/aaA	0	not done		probablydamaging	
MPHOSPH8		inserm.fr	GRCh37	13	20221361	20221361	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361479.5:c.1148C>T	p.Ala383Val	p.A383V	ENST00000361479	NM_017520.3	383	gCc/gTc	0	not done		benign	
RPS6KA3		inserm.fr	GRCh37	X	20222174	20222174	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC2103T																					ENST00000379565.3:c.291T>A	p.Tyr97Ter	p.Y97*	ENST00000379565	NM_004586.2	97	taT/taA	0	not done		damaging	
LGR6		inserm.fr	GRCh37	1	202276011	202276011	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000367278.3:c.1152C>T	p.Asn384=	p.N384=	ENST00000367278	NM_001017403.1	384	aaC/aaT	0	not done		synonymous	
LGR6		inserm.fr	GRCh37	1	202287630	202287630	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000367278.3:c.2199C>T	p.Thr733=	p.T733=	ENST00000367278	NM_001017403.1	733	acC/acT	0	not done		synonymous	
RTN4R		inserm.fr	GRCh37	22	20229361	20229361	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000043402.7:c.1295G>A	p.Gly432Asp	p.G432D	ENST00000043402	NM_023004.5	432	gGc/gAc	0	not done		probablydamaging	
PPP1R12B		inserm.fr	GRCh37	1	202318006	202318006	+	synonymous_variant	Silent	SNP	G	T	T			CHC322T																					ENST00000608999.1:c.27G>T	p.Gly9=	p.G9=	ENST00000608999	NM_002481.3	9	ggG/ggT	0	validated		synonymous	
ALS2CR11		inserm.fr	GRCh37	2	202400896	202400896	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC432T																					ENST00000439140.1:c.1354G>A	p.Glu452Lys	p.E452K	ENST00000439140	NM_001168221.1	452	Gaa/Aaa	0	not done		possiblydamaging	
OR4M1		inserm.fr	GRCh37	14	20249338	20249338	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000315957.4:c.857C>T	p.Pro286Leu	p.P286L	ENST00000315957	NM_001005500.1	286	cCc/cTc	0	not done		probablydamaging	
PPP1R12B		inserm.fr	GRCh37	1	202509283	202509283	+	intron_variant	Intron	SNP	A	T	T			CHC798T																					ENST00000608999.1:c.2491-18722A>T		*831*	ENST00000608999	NM_002481.3			0	validated			
SLIT2		inserm.fr	GRCh37	4	20255511	20255511	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000504154.1:c.73C>T	p.Pro25Ser	p.P25S	ENST00000504154	NM_004787.1	25	Ccg/Tcg	0	not done		benign	
ALS2		inserm.fr	GRCh37	2	202625576	202625576	+	intron_variant	Intron	SNP	C	T	T			CHC2351T																					ENST00000264276.6:c.1113+28G>A		*371*	ENST00000264276	NM_020919.3			0	not done			
CDK15		inserm.fr	GRCh37	2	202672265	202672265	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1715T																					ENST00000450471.2:c.172A>T	p.Arg58Trp	p.R58W	ENST00000450471	NM_001261435.1	58	Agg/Tgg	0	not done		possiblydamaging	
CDK15		inserm.fr	GRCh37	2	202698655	202698655	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC218T																					ENST00000450471.2:c.691C>T	p.Leu231Phe	p.L231F	ENST00000450471	NM_001261435.1	231	Ctc/Ttc	0	validated		probablydamaging	
KDM5B		inserm.fr	GRCh37	1	202710560	202710560	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000367265.3:c.2880G>A	p.Arg960=	p.R960=	ENST00000367265	NM_006618.3	960	cgG/cgA	0	not done		synonymous	
CACNA2D4		inserm.fr	GRCh37	12	2027412	2027412	+	splice_donor_variant	Splice_Site	SNP	C	T	T			BCM723T																					ENST00000382722.5:c.227+1G>A		p.X76_splice	ENST00000382722	NM_172364.4			0	validated		damaging	
PSPC1		inserm.fr	GRCh37	13	20283717	20283717	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000338910.4:c.1181G>A	p.Gly394Asp	p.G394D	ENST00000338910	NM_001042414.2	394	gGt/gAt	0	not done		possiblydamaging	
TBL3		inserm.fr	GRCh37	16	2028613	2028613	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1732T																					ENST00000568546.1:c.2354G>T	p.Trp785Leu	p.W785L	ENST00000568546	NM_006453.2	785	tGg/tTg	0	not done		probablydamaging	
KLHL12		inserm.fr	GRCh37	1	202863366	202863366	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2141T																					ENST00000367261.3:c.1339G>A	p.Asp447Asn	p.D447N	ENST00000367261	NM_021633.2	447	Gac/Aac	0	not done		probablydamaging	
PLXDC2		inserm.fr	GRCh37	10	20290728	20290728	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000377252.4:c.137C>T	p.Ala46Val	p.A46V	ENST00000377252	NM_032812.7	46	gCc/gTc	0	not done		benign	
AC079354.1		inserm.fr	GRCh37	2	202939842	202939842	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1209T																					ENST00000541917.1:c.313G>T	p.Glu105Ter	p.E105*	ENST00000541917		105	Gaa/Taa	0	not done		damaging	
OR4N2		inserm.fr	GRCh37	14	20296498	20296498	+	synonymous_variant	Silent	SNP	C	T	T			CHC884T																					ENST00000315947.1:c.891C>T	p.Ser297=	p.S297=	ENST00000315947	NM_001004723.1	297	tcC/tcT	0	validated		synonymous	
PPFIA4		inserm.fr	GRCh37	1	203024641	203024641	+	synonymous_variant	Silent	SNP	C	T	T			CHC1736T																					ENST00000272198.6:c.393C>T	p.Ala131=	p.A131=	ENST00000272198	NM_015053.1	131	gcC/gcT	0	not done		synonymous	
PPFIA4		inserm.fr	GRCh37	1	203025926	203025926	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCB325T																					ENST00000272198.6:c.737A>T	p.Gln246Leu	p.Q246L	ENST00000272198	NM_015053.1	246	cAg/cTg	0	validated		benign	
PPFIA4		inserm.fr	GRCh37	1	203029415	203029415	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1065T																					ENST00000272198.6:c.1136C>T	p.Ser379Phe	p.S379F	ENST00000272198	NM_015053.1	379	tCc/tTc	0	validated		probablydamaging	
PPFIA4		inserm.fr	GRCh37	1	203029417	203029417	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1065T																					ENST00000272198.6:c.1138G>T	p.Ala380Ser	p.A380S	ENST00000272198	NM_015053.1	380	Gct/Tct	0	validated		probablydamaging	
PPFIA4		inserm.fr	GRCh37	1	203033036	203033036	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000272198.6:c.1437C>T	p.Ser479=	p.S479=	ENST00000272198	NM_015053.1	479	agC/agT	0	not done		synonymous	
ADORA1		inserm.fr	GRCh37	1	203134836	203134836	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000367236.4:c.789C>T	p.Cys263=	p.C263=	ENST00000367236	NM_001048230.1	263	tgC/tgT	0	not done		synonymous	
CHI3L1		inserm.fr	GRCh37	1	203154380	203154380	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000255409.3:c.189C>A	p.Asn63Lys	p.N63K	ENST00000255409	NM_001276.2	63	aaC/aaA	0	not done		benign	
NOP58		inserm.fr	GRCh37	2	203160415	203160415	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000264279.5:c.926C>T	p.Ala309Val	p.A309V	ENST00000264279	NM_015934.3	309	gCc/gTc	0	not done		probablydamaging	
NOP58		inserm.fr	GRCh37	2	203162119	203162119	+	synonymous_variant	Silent	SNP	A	T	T			CHC1600T																					ENST00000264279.5:c.1089A>T	p.Ala363=	p.A363=	ENST00000264279	NM_015934.3	363	gcA/gcT	0	not done		synonymous	
FMOD		inserm.fr	GRCh37	1	203316711	203316711	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1629T																					ENST00000354955.4:c.688C>A	p.Leu230Met	p.L230M	ENST00000354955	NM_002023.4	230	Ctg/Atg	0	not done		benign	
PLXDC2		inserm.fr	GRCh37	10	20335812	20335812	+	synonymous_variant	Silent	SNP	C	T	T			CHC1597T																					ENST00000377252.4:c.339C>T	p.His113=	p.H113=	ENST00000377252	NM_032812.7	113	caC/caT	0	not done		synonymous	
GFER		inserm.fr	GRCh37	16	2034230	2034230	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2111T																					ENST00000248114.6:c.11C>T	p.Pro4Leu	p.P4L	ENST00000248114	NM_005262.2	4	cCc/cTc	0	not done		probablydamaging	
BMPR2		inserm.fr	GRCh37	2	203424573	203424573	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1191T																					ENST00000374580.4:c.3021G>T	p.Arg1007Ser	p.R1007S	ENST00000374580	NM_001204.6	1007	agG/agT	0	not done		benign	
PRELP		inserm.fr	GRCh37	1	203452396	203452396	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000343110.2:c.84C>T	p.Pro28=	p.P28=	ENST00000343110	NM_201348.1	28	ccC/ccT	0	not done		synonymous	
PRELP		inserm.fr	GRCh37	1	203453009	203453009	+	synonymous_variant	Silent	SNP	C	T	T			CHC2103T																					ENST00000343110.2:c.697C>T	p.Leu233=	p.L233=	ENST00000343110	NM_201348.1	233	Ctg/Ttg	0	not done		synonymous	
PRELP		inserm.fr	GRCh37	1	203453085	203453085	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000343110.2:c.773C>T	p.Pro258Leu	p.P258L	ENST00000343110	NM_201348.1	258	cCt/cTt	0	not done		probablydamaging	
PSPC1		inserm.fr	GRCh37	13	20356867	20356867	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC614T																					ENST00000338910.4:c.31C>A	p.Arg11Ser	p.R11S	ENST00000338910	NM_001042414.2	11	Cgc/Agc	0	validated		benign	
PSPC1		inserm.fr	GRCh37	13	20356868	20356868	+	synonymous_variant	Silent	SNP	C	T	T			CHC614T																					ENST00000338910.4:c.30G>A	p.Val10=	p.V10=	ENST00000338910	NM_001042414.2	10	gtG/gtA	0	validated		synonymous	
ATP2B4		inserm.fr	GRCh37	1	203678585	203678585	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000357681.5:c.1714C>T	p.Arg572Cys	p.R572C	ENST00000357681	NM_001684.4	572	Cgc/Tgc	0	validated		probablydamaging	
RP3-416J7.5		inserm.fr	GRCh37	6	203754	203754	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC892T																					ENST00000381078.1:n.442C>T		*148*	ENST00000381078				0	not done			
ZBED6		inserm.fr	GRCh37	1	203768517	203768517	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC799T																					ENST00000550078.1:c.1867C>T	p.Arg623Cys	p.R623C	ENST00000550078	NM_001174108.1	623	Cgt/Tgt	0	not done			
NBEAL1		inserm.fr	GRCh37	2	203987057	203987057	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM423T																					ENST00000449802.1:c.2586G>T	p.Trp862Cys	p.W862C	ENST00000449802	NM_001114132.1	862	tgG/tgT	0	validated		probablydamaging	
ZMYM5		inserm.fr	GRCh37	13	20399058	20399058	+	synonymous_variant	Silent	SNP	A	T	T			BCM545T																					ENST00000337963.4:c.1569T>A	p.Gly523=	p.G523=	ENST00000337963	NM_001142684.1	523	ggT/ggA	0	validated		synonymous	
SDC1		inserm.fr	GRCh37	2	20403622	20403622	+	synonymous_variant	Silent	SNP	C	T	T			BCM483T																					ENST00000381150.1:c.579G>A	p.Glu193=	p.E193=	ENST00000381150	NM_001006946.1	193	gaG/gaA	0	validated		synonymous	
OR4K1		inserm.fr	GRCh37	14	20403870	20403870	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T									Valid												ENST00000285600.4:c.45G>T	p.Leu15Phe	p.L15F	ENST00000285600	NM_001004063.2	15	ttG/ttT	0	validated		possiblydamaging	
OR4K1		inserm.fr	GRCh37	14	20403954	20403954	+	synonymous_variant	Silent	SNP	C	T	T			CHC432T																					ENST00000285600.4:c.129C>T	p.Val43=	p.V43=	ENST00000285600	NM_001004063.2	43	gtC/gtT	0	not done		synonymous	
SYNGR3		inserm.fr	GRCh37	16	2042694	2042694	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000248121.2:c.395G>T	p.Arg132Leu	p.R132L	ENST00000248121	NM_004209.5	132	cGc/cTc	0	not done		possiblydamaging	
HBZ		inserm.fr	GRCh37	16	204343	204343	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000252951.2:c.373G>T	p.Ala125Ser	p.A125S	ENST00000252951	NM_005332.2	125	Gcc/Tcc	0	not done		possiblydamaging	
ACSM5		inserm.fr	GRCh37	16	20442562	20442562	+	synonymous_variant	Silent	SNP	C	T	T			CHC2099T																					ENST00000331849.4:c.1227C>T	p.Asn409=	p.N409=	ENST00000331849	NM_017888.2	409	aaC/aaT	0	not done		synonymous	
ITGB8		inserm.fr	GRCh37	7	20445730	20445730	+	synonymous_variant	Silent	SNP	A	T	T			CHC609T																					ENST00000222573.4:c.1959A>T	p.Ile653=	p.I653=	ENST00000222573	NM_002214.2	653	atA/atT	0	validated		synonymous	
RALGAPA2		inserm.fr	GRCh37	20	20453538	20453538	+	synonymous_variant	Silent	SNP	A	T	T			CHC902T																					ENST00000202677.7:c.5430T>A	p.Leu1810=	p.L1810=	ENST00000202677	NM_020343.3	1810	ctT/ctA	0	not done		synonymous	
OR4K14		inserm.fr	GRCh37	14	20483233	20483233	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000305045.2:c.120G>A	p.Leu40=	p.L40=	ENST00000305045	NM_001004712.1	40	ctG/ctA	0	not done		synonymous	
NFASC		inserm.fr	GRCh37	1	204948168	204948168	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000339876.6:c.1949C>T	p.Pro650Leu	p.P650L	ENST00000339876	NM_001005388.2	650	cCc/cTc	0	not done		probablydamaging	
NFASC		inserm.fr	GRCh37	1	204950926	204950926	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000339876.6:c.2248C>T	p.Pro750Ser	p.P750S	ENST00000339876	NM_001005388.2	750	Ccc/Tcc	0	not done		probablydamaging	
NFASC		inserm.fr	GRCh37	1	204951064	204951064	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000339876.6:c.2386C>T	p.Pro796Ser	p.P796S	ENST00000339876	NM_001005388.2	796	Ccc/Tcc	0	not done		probablydamaging	
CNTN2		inserm.fr	GRCh37	1	205042351	205042351	+	synonymous_variant	Silent	SNP	C	T	T			CHC1148T																					ENST00000331830.4:c.3000C>T	p.Ile1000=	p.I1000=	ENST00000331830	NM_005076.3	1000	atC/atT	0	not done		synonymous	
DSTYK		inserm.fr	GRCh37	1	205126509	205126509	+	synonymous_variant	Silent	SNP	C	T	T			CHC909T																					ENST00000367162.3:c.2244G>A	p.Gly748=	p.G748=	ENST00000367162	NM_015375.2	748	ggG/ggA	0	not done		synonymous	
DSTYK		inserm.fr	GRCh37	1	205156603	205156603	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000367162.3:c.597G>A	p.Glu199=	p.E199=	ENST00000367162	NM_015375.2	199	gaG/gaA	0	not done		synonymous	
ZNF598		inserm.fr	GRCh37	16	2051607	2051607	+	synonymous_variant	Silent	SNP	G	T	T			CHC1601T																					ENST00000431526.1:c.990C>A	p.Arg330=	p.R330=	ENST00000431526		330	cgC/cgA	0	not done		synonymous	
TMCC2		inserm.fr	GRCh37	1	205210982	205210982	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000358024.3:c.557G>T	p.Ser186Ile	p.S186I	ENST00000358024	NM_014858.3	186	aGc/aTc	0	not done		benign	
TMCC2		inserm.fr	GRCh37	1	205238706	205238706	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1708T																					ENST00000358024.3:c.1376G>T	p.Arg459Leu	p.R459L	ENST00000358024	NM_014858.3	459	cGg/cTg	0	not done		probablydamaging	
PUM2		inserm.fr	GRCh37	2	20527083	20527083	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000338086.5:c.39G>A	p.Arg13=	p.R13=	ENST00000338086	NM_015317.1	13	cgG/cgA	0	not done		synonymous	
KLHDC8A		inserm.fr	GRCh37	1	205308874	205308874	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2110Tbis																					ENST00000367156.3:c.439C>A	p.His147Asn	p.H147N	ENST00000367156	NM_001271863.1	147	Cac/Aac	0	validated		benign	
CDK18		inserm.fr	GRCh37	1	205499798	205499798	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC314T									Valid												ENST00000506784.1:c.1445A>T	p.Asp482Val	p.D482V	ENST00000506784		482	gAc/gTc	0	validated		possiblydamaging	
RALGAPA2		inserm.fr	GRCh37	20	20552197	20552197	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000202677.7:c.3061G>A	p.Ala1021Thr	p.A1021T	ENST00000202677	NM_020343.3	1021	Gcc/Acc	0	not done		benign	
MFSD4		inserm.fr	GRCh37	1	205548996	205548996	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000367147.4:c.348C>T	p.Gly116=	p.G116=	ENST00000367147	NM_181644.4	116	ggC/ggT	0	not done		synonymous	
ELK4		inserm.fr	GRCh37	1	205589542	205589542	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000357992.4:c.632G>A	p.Gly211Asp	p.G211D	ENST00000357992	NM_001973.3	211	gGc/gAc	0	not done		benign	
SLC45A3		inserm.fr	GRCh37	1	205628686	205628686	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000367145.3:c.1338G>A	p.Val446=	p.V446=	ENST00000367145	NM_033102.2	446	gtG/gtA	0	not done		synonymous	
SLC45A3		inserm.fr	GRCh37	1	205631223	205631223	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000367145.3:c.990G>A	p.Leu330=	p.L330=	ENST00000367145	NM_033102.2	330	ctG/ctA	0	not done		synonymous	
SLC45A3		inserm.fr	GRCh37	1	205631990	205631990	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC896T																					ENST00000367145.3:c.929G>A	p.Gly310Asp	p.G310D	ENST00000367145	NM_033102.2	310	gGc/gAc	0	not done		probablydamaging	
RAB7L1		inserm.fr	GRCh37	1	205739520	205739520	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM397T																					ENST00000367139.3:c.562G>A	p.Gly188Arg	p.G188R	ENST00000367139	NM_003929.2	188	Ggg/Agg	0	validated		probablydamaging	
SLC41A1		inserm.fr	GRCh37	1	205766082	205766082	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000367137.3:c.1042G>A	p.Gly348Arg	p.G348R	ENST00000367137	NM_173854.4	348	Ggg/Agg	0	not done		probablydamaging	
RALGAPA2		inserm.fr	GRCh37	20	20582430	20582430	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000202677.7:c.2099G>A	p.Arg700Gln	p.R700Q	ENST00000202677	NM_020343.3	700	cGg/cAg	0	validated		probablydamaging	
SLC26A9		inserm.fr	GRCh37	1	205897958	205897958	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC898T																					ENST00000367134.2:c.950G>A	p.Arg317His	p.R317H	ENST00000367134	NM_134325.2	317	cGc/cAc	0	not done		benign	
PARD3B		inserm.fr	GRCh37	2	205989162	205989162	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC301T									Valid												ENST00000358768.2:c.1277G>T	p.Arg426Leu	p.R426L	ENST00000358768		426	cGc/cTc	0	validated		probablydamaging	
RBBP8		inserm.fr	GRCh37	18	20602210	20602210	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2208T																					ENST00000399722.2:c.2573C>T	p.Ser858Phe	p.S858F	ENST00000399722	NM_203291.1	858	tCc/tTc	0	not done		probablydamaging	
PARD3B		inserm.fr	GRCh37	2	206023534	206023534	+	intron_variant	Intron	SNP	G	T	T			CHC1209T																					ENST00000358768.2:c.1435-13401G>T		*479*	ENST00000358768				0	validated		probablydamaging	
OR4N5		inserm.fr	GRCh37	14	20612463	20612463	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000333629.1:c.569C>T	p.Thr190Ile	p.T190I	ENST00000333629	NM_001004724.1	190	aCc/aTc	0	not done		benign	
SLC6A5		inserm.fr	GRCh37	11	20636265	20636265	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000525748.1:c.1026G>T	p.Lys342Asn	p.K342N	ENST00000525748	NM_004211.3	342	aaG/aaT	0	not done		probablydamaging	
VWA5B1		inserm.fr	GRCh37	1	20645878	20645878	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375079.2:c.845C>T	p.Pro282Leu	p.P282L	ENST00000375079	NM_001039500.2	282	cCc/cTc	0	not done		probablydamaging	
ACSM1		inserm.fr	GRCh37	16	20648080	20648080	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000307493.4:c.1280G>A	p.Ser427Asn	p.S427N	ENST00000307493	NM_052956.2	427	aGc/aAc	0	not done		benign	
INO80D		inserm.fr	GRCh37	2	206869807	206869807	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2128T																					ENST00000403263.1:c.2369G>A	p.Gly790Asp	p.G790D	ENST00000403263	NM_017759.4	790	gGc/gAc	0	not done		probablydamaging	
INO80D		inserm.fr	GRCh37	2	206921331	206921331	+	synonymous_variant	Silent	SNP	C	T	T			BCM567T																					ENST00000403263.1:c.555G>A	p.Glu185=	p.E185=	ENST00000403263	NM_017759.4	185	gaG/gaA	0	validated		synonymous	
IL19		inserm.fr	GRCh37	1	207013212	207013212	+	synonymous_variant	Silent	SNP	C	T	T			BCM501T																					ENST00000340758.2:c.342C>T	p.Cys114=	p.C114=	ENST00000340758	NM_153758.2	114	tgC/tgT	0	validated		synonymous	
FAIM3		inserm.fr	GRCh37	1	207083645	207083645	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000367091.3:c.751G>A	p.Gly251Arg	p.G251R	ENST00000367091	NM_005449.4	251	Gga/Aga	0	not done		probablydamaging	
FCAMR		inserm.fr	GRCh37	1	207133900	207133900	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000324852.4:c.1321G>A	p.Ala441Thr	p.A441T	ENST00000324852	NM_001170631.1	441	Gca/Aca	0	not done		benign	
GJA3		inserm.fr	GRCh37	13	20716252	20716252	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000241125.3:c.1176G>A	p.Glu392=	p.E392=	ENST00000241125	NM_021954.3	392	gaG/gaA	0	not done		synonymous	
GJA3		inserm.fr	GRCh37	13	20716510	20716510	+	synonymous_variant	Silent	SNP	G	T	T			CHC1763T																					ENST00000241125.3:c.918C>A	p.Arg306=	p.R306=	ENST00000241125	NM_021954.3	306	cgC/cgA	0	not done		synonymous	
ZDBF2		inserm.fr	GRCh37	2	207170337	207170337	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB167T																					ENST00000374423.3:c.1085C>T	p.Ser362Phe	p.S362F	ENST00000374423	NM_020923.1	362	tCt/tTt	0	validated		probablydamaging	
GJA3		inserm.fr	GRCh37	13	20717244	20717244	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM735T																					ENST00000241125.3:c.184G>A	p.Glu62Lys	p.E62K	ENST00000241125	NM_021954.3	62	Gag/Aag	0	validated		probablydamaging	
YOD1		inserm.fr	GRCh37	1	207222426	207222426	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2115T																					ENST00000315927.4:c.986G>A	p.Gly329Glu	p.G329E	ENST00000315927	NM_018566.3	329	gGa/gAa	0	not done		probablydamaging	
ABCB5		inserm.fr	GRCh37	7	20725389	20725389	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000404938.2:c.1940C>T	p.Pro647Leu	p.P647L	ENST00000404938	NM_001163941.1	647	cCt/cTt	0	not done		benign	
ZNF737		inserm.fr	GRCh37	19	20728752	20728752	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000427401.4:c.257G>A	p.Trp86Ter	p.W86*	ENST00000427401	NM_001159293.1	86	tGg/tAg	0	not done		damaging	
ADAM23		inserm.fr	GRCh37	2	207459510	207459510	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000264377.3:c.2128G>T	p.Asp710Tyr	p.D710Y	ENST00000264377	NM_003812.3	710	Gat/Tat	0	not done		probablydamaging	
THUMPD1		inserm.fr	GRCh37	16	20748465	20748465	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC304T									Valid												ENST00000381337.2:c.799G>A	p.Val267Met	p.V267M	ENST00000381337	NM_017736.3	267	Gtg/Atg	0	validated		probablydamaging	
ZNF74		inserm.fr	GRCh37	22	20760200	20760200	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1594T																					ENST00000400451.2:c.877G>T	p.Glu293Ter	p.E293*	ENST00000400451	NM_003426.3	293	Gag/Tag	0	not done		damaging	
ZNF74		inserm.fr	GRCh37	22	20760461	20760461	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC912T																					ENST00000400451.2:c.1138C>T	p.Arg380Cys	p.R380C	ENST00000400451	NM_003426.3	380	Cgc/Tgc	0	validated		possiblydamaging	
MDH1B		inserm.fr	GRCh37	2	207621622	207621622	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000374412.3:c.413G>A	p.Ser138Asn	p.S138N	ENST00000374412	NM_001039845.1	138	aGt/aAt	0	not done		benign	
FASTKD2		inserm.fr	GRCh37	2	207639033	207639033	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM375T									Valid												ENST00000236980.6:c.1339G>T	p.Asp447Tyr	p.D447Y	ENST00000236980	NM_014929.3	447	Gat/Tat	0	validated		possiblydamaging	
FASTKD2		inserm.fr	GRCh37	2	207652796	207652796	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC794T									Valid												ENST00000236980.6:c.1730A>T	p.Lys577Met	p.K577M	ENST00000236980	NM_014929.3	577	aAg/aTg	0	validated		probablydamaging	
TTC5		inserm.fr	GRCh37	14	20767460	20767460	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1545T																					ENST00000258821.3:c.544T>A	p.Trp182Arg	p.W182R	ENST00000258821	NM_138376.2	182	Tgg/Agg	0	not done		probablydamaging	
ABCB5		inserm.fr	GRCh37	7	20778638	20778638	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1148T																					ENST00000404938.2:c.2900C>T	p.Ala967Val	p.A967V	ENST00000404938	NM_001163941.1	967	gCc/gTc	0	not done		benign	
CR1		inserm.fr	GRCh37	1	207787822	207787822	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000367049.4:c.6649C>T	p.Pro2217Ser	p.P2217S	ENST00000367049	NM_000651.4	2217	Cca/Tca	0	not done		probablydamaging	
SCARF2		inserm.fr	GRCh37	22	20780203	20780203	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000266214.5:c.2075G>A	p.Gly692Asp	p.G692D	ENST00000266214	NM_153334.4	692	gGc/gAc	0	not done		probablydamaging	
CD46		inserm.fr	GRCh37	1	207940519	207940519	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1603T																					ENST00000322875.4:c.835C>T	p.Pro279Ser	p.P279S	ENST00000322875	NM_172359.2	279	Cca/Tca	0	not done		benign	
PARP2		inserm.fr	GRCh37	14	20815055	20815055	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM375T									Valid												ENST00000250416.5:c.346G>T	p.Asp116Tyr	p.D116Y	ENST00000250416	NM_005484.3	116	Gat/Tat	0	validated		probablydamaging	
PLXNA2		inserm.fr	GRCh37	1	208202250	208202250	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000367033.3:c.5363G>A	p.Arg1788Gln	p.R1788Q	ENST00000367033	NM_025179.3	1788	cGg/cAg	0	not done		probablydamaging	
PLXNA2		inserm.fr	GRCh37	1	208213051	208213051	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC155T									Valid												ENST00000367033.3:c.4415G>A	p.Gly1472Asp	p.G1472D	ENST00000367033	NM_025179.3	1472	gGc/gAc	0	validated		probablydamaging	
SP8		inserm.fr	GRCh37	7	20824195	20824195	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2098T																					ENST00000418710.2:c.1241G>A	p.Arg414His	p.R414H	ENST00000418710	NM_182700.4	414	cGc/cAc	0	not done		probablydamaging	
SP8		inserm.fr	GRCh37	7	20824341	20824341	+	synonymous_variant	Silent	SNP	C	T	T			CHC1717T																					ENST00000418710.2:c.1095G>A	p.Gly365=	p.G365=	ENST00000418710	NM_182700.4	365	ggG/ggA	0	not done		synonymous	
SP8		inserm.fr	GRCh37	7	20824722	20824722	+	synonymous_variant	Silent	SNP	C	T	T			CHC1629T																					ENST00000418710.2:c.714G>A	p.Val238=	p.V238=	ENST00000418710	NM_182700.4	238	gtG/gtA	0	not done		synonymous	
SP8		inserm.fr	GRCh37	7	20825169	20825169	+	synonymous_variant	Silent	SNP	C	T	T			CHC051T																					ENST00000418710.2:c.267G>A	p.Ala89=	p.A89=	ENST00000418710	NM_182700.4	89	gcG/gcA	0	validated		synonymous	
STK35		inserm.fr	GRCh37	20	2082720	2082720	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000381482.3:c.193G>T	p.Ala65Ser	p.A65S	ENST00000381482		65	Gct/Tct	0	not done		benign	
LOC81691		inserm.fr	GRCh37	16	20835773	20835773	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000261377.6:c.629G>T	p.Cys210Phe	p.C210F	ENST00000261377	NM_030941.2	210	tGt/tTt	0	not done		probablydamaging	
TEP1		inserm.fr	GRCh37	14	20852650	20852650	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000262715.5:c.3239G>A	p.Gly1080Glu	p.G1080E	ENST00000262715	NM_007110.4	1080	gGg/gAg	0	not done		probablydamaging	
CCNYL1		inserm.fr	GRCh37	2	208598743	208598743	+	intron_variant	Intron	SNP	C	T	T			CHC789T																					ENST00000339882.5:c.331-3392C>T		*111*	ENST00000339882	NM_001142300.1			0	not done		damaging	
CRYGD		inserm.fr	GRCh37	2	208988977	208988977	+	synonymous_variant	Silent	SNP	G	T	T			CHC1154T																					ENST00000264376.4:c.111C>A	p.Arg37=	p.R37=	ENST00000264376	NM_006891.3	37	cgC/cgA	0	not done		synonymous	
CRYGB		inserm.fr	GRCh37	2	209007461	209007461	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000260988.4:c.429G>A	p.Arg143=	p.R143=	ENST00000260988	NM_005210.3	143	agG/agA	0	not done		synonymous	
SLCO1C1		inserm.fr	GRCh37	12	20905375	20905375	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC301T																					ENST00000381552.1:c.2155G>T	p.Val719Phe	p.V719F	ENST00000381552		719	Gtc/Ttc	0	validated			
USP22		inserm.fr	GRCh37	17	20921257	20921257	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261497.4:c.688G>A	p.Glu230Lys	p.E230K	ENST00000261497	NM_015276.1	230	Gag/Aag	0	not done		possiblydamaging	
PIKFYVE		inserm.fr	GRCh37	2	209218688	209218688	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC703T																					ENST00000264380.4:c.5911G>T	p.Asp1971Tyr	p.D1971Y	ENST00000264380	NM_015040.3	1971	Gat/Tat	0	validated		probablydamaging	
PTH2R		inserm.fr	GRCh37	2	209353808	209353808	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000272847.2:c.1148C>T	p.Pro383Leu	p.P383L	ENST00000272847	NM_005048.3	383	cCt/cTt	0	not done		probablydamaging	
DNAH3		inserm.fr	GRCh37	16	20966293	20966293	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC609T									Valid												ENST00000261383.3:c.10913G>A	p.Gly3638Glu	p.G3638E	ENST00000261383	NM_017539.1	3638	gGg/gAg	0	validated		probablydamaging	
PINK1		inserm.fr	GRCh37	1	20975488	20975488	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC465T									Valid												ENST00000321556.4:c.1252G>T	p.Val418Leu	p.V418L	ENST00000321556	NM_032409.2	418	Gtg/Ttg	0	validated		probablydamaging	
LAMB3		inserm.fr	GRCh37	1	209801389	209801389	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000391911.1:c.1279G>A	p.Gly427Ser	p.G427S	ENST00000391911	NM_001017402.1	427	Ggc/Agc	0	not done		probablydamaging	
NELL1		inserm.fr	GRCh37	11	20981985	20981985	+	synonymous_variant	Silent	SNP	C	T	T			CHC1209T																					ENST00000357134.5:c.1179C>T	p.Asn393=	p.N393=	ENST00000357134	NM_201551.1	393	aaC/aaT	0	not done		synonymous	
NELL1		inserm.fr	GRCh37	11	20982017	20982017	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCB151T																					ENST00000357134.5:c.1211A>T	p.Asn404Ile	p.N404I	ENST00000357134	NM_201551.1	404	aAc/aTc	0	validated		probablydamaging	
TSC2		inserm.fr	GRCh37	16	2098658	2098658	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB231T																					ENST00000219476.3:c.42G>T	p.Lys14Asn	p.K14N	ENST00000219476	NM_000548.3	14	aaG/aaT	0	validated		probablydamaging	
KIF17		inserm.fr	GRCh37	1	20992775	20992775	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM257T																					ENST00000247986.2:c.2843T>A	p.Ile948Asn	p.I948N	ENST00000247986		948	aTt/aAt	0	validated		probablydamaging	
TRAF3IP3		inserm.fr	GRCh37	1	209952674	209952674	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC736T									Valid												ENST00000367024.1:c.1267C>T	p.Gln423Ter	p.Q423*	ENST00000367024		423	Caa/Taa	0	validated		damaging	
IRF6		inserm.fr	GRCh37	1	209965730	209965730	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000367021.3:c.551G>A	p.Gly184Asp	p.G184D	ENST00000367021	NM_006147.3	184	gGc/gAc	0	not done		benign	
DNAH3		inserm.fr	GRCh37	16	20996748	20996748	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC306T									Valid												ENST00000261383.3:c.7316G>A	p.Gly2439Glu	p.G2439E	ENST00000261383	NM_017539.1	2439	gGg/gAg	0	validated		probablydamaging	
IRF6		inserm.fr	GRCh37	1	209974755	209974755	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC303T									Valid												ENST00000367021.3:c.4G>A	p.Ala2Thr	p.A2T	ENST00000367021	NM_006147.3	2	Gcc/Acc	0	validated		possiblydamaging	
KIF17		inserm.fr	GRCh37	1	21009266	21009266	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000247986.2:c.2343G>A	p.Leu781=	p.L781=	ENST00000247986		781	ctG/ctA	0	not done		synonymous	
SYT14		inserm.fr	GRCh37	1	210187101	210187101	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM371T																					ENST00000422431.1:c.320G>T	p.Gly107Val	p.G107V	ENST00000422431	NM_001146261.2	107	gGt/gTt	0	validated		benign	
SYT14		inserm.fr	GRCh37	1	210332789	210332789	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM371T																					ENST00000422431.1:c.1513C>T	p.His505Tyr	p.H505Y	ENST00000422431	NM_001146261.2	505	Cac/Tac	0	validated		probablydamaging	
TSC2		inserm.fr	GRCh37	16	2104359	2104359	+	synonymous_variant	Silent	SNP	C	T	T			CHC2141T																					ENST00000219476.3:c.399C>T	p.Asn133=	p.N133=	ENST00000219476	NM_000548.3	133	aaC/aaT	0	not done		synonymous	
RNASE11		inserm.fr	GRCh37	14	21052587	21052587	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC703T																					ENST00000555283.1:c.200C>A	p.Ala67Glu	p.A67E	ENST00000555283		67	gCa/gAa	0	validated		probablydamaging	
MAP2		inserm.fr	GRCh37	2	210557818	210557818	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1624T																					ENST00000360351.4:c.924G>T	p.Gln308His	p.Q308H	ENST00000360351	NM_002374.3	308	caG/caT	0	validated		probablydamaging	
MAP2		inserm.fr	GRCh37	2	210574925	210574925	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC306T									Valid												ENST00000360351.4:c.5020A>T	p.Lys1674Ter	p.K1674*	ENST00000360351	NM_002374.3	1674	Aaa/Taa	0	validated		damaging	
UNC80		inserm.fr	GRCh37	2	210685086	210685086	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM723T																					ENST00000439458.1:c.2014A>T	p.Ile672Phe	p.I672F	ENST00000439458	NM_032504.1	672	Atc/Ttc	0	validated		probablydamaging	
UNC80		inserm.fr	GRCh37	2	210694064	210694064	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000439458.1:c.2587C>T	p.His863Tyr	p.H863Y	ENST00000439458	NM_032504.1	863	Cat/Tat	0	not done		probablydamaging	
UNC80		inserm.fr	GRCh37	2	210698813	210698813	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2115T																					ENST00000439458.1:c.2863C>T	p.Leu955Phe	p.L955F	ENST00000439458	NM_032504.1	955	Ctt/Ttt	0	not done		probablydamaging	
UNC80		inserm.fr	GRCh37	2	210699717	210699717	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000439458.1:c.3024C>T	p.Pro1008=	p.P1008=	ENST00000439458	NM_032504.1	1008	ccC/ccT	0	not done		synonymous	
UNC80		inserm.fr	GRCh37	2	210704114	210704114	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000439458.1:c.3210C>T	p.Ser1070=	p.S1070=	ENST00000439458	NM_032504.1	1070	tcC/tcT	0	not done		synonymous	
UNC80		inserm.fr	GRCh37	2	210837929	210837929	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB151T																					ENST00000439458.1:c.8324G>T	p.Gly2775Val	p.G2775V	ENST00000439458	NM_032504.1	2775	gGg/gTg	0	validated		probablydamaging	
DNAH3		inserm.fr	GRCh37	16	21092972	21092972	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261383.3:c.2954G>A	p.Gly985Asp	p.G985D	ENST00000261383	NM_017539.1	985	gGc/gAc	0	not done		benign	
AP3D1		inserm.fr	GRCh37	19	2110157	2110157	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000355272.6:c.3242G>A	p.Gly1081Glu	p.G1081E	ENST00000355272	NM_001261826.1	1081	gGg/gAg	0	not done		probablydamaging	
NEBL		inserm.fr	GRCh37	10	21102973	21102973	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000377122.4:c.2242-1G>A		p.X748_splice	ENST00000377122	NM_006393.2			0	not done		damaging	
OR6S1		inserm.fr	GRCh37	14	21109176	21109176	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000320704.3:c.675G>A	p.Val225=	p.V225=	ENST00000320704	NM_001001968.1	225	gtG/gtA	0	not done		synonymous	
DNAH3		inserm.fr	GRCh37	16	21123103	21123103	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM325T																					ENST00000261383.3:c.1943G>A	p.Arg648Gln	p.R648Q	ENST00000261383	NM_017539.1	648	cGg/cAg	0	validated		possiblydamaging	
ZNF85		inserm.fr	GRCh37	19	21132543	21132543	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC805T																					ENST00000328178.8:c.1223A>T	p.Lys408Ile	p.K408I	ENST00000328178	NM_003429.4	408	aAa/aTa	0	not done		benign	
DNAH3		inserm.fr	GRCh37	16	21133325	21133325	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC703T																					ENST00000261383.3:c.1525T>A	p.Trp509Arg	p.W509R	ENST00000261383	NM_017539.1	509	Tgg/Agg	0	validated		probablydamaging	
LANCL1		inserm.fr	GRCh37	2	211336686	211336686	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000443314.1:c.196G>A	p.Ala66Thr	p.A66T	ENST00000443314		66	Gca/Aca	0	not done		benign	
LANCL1		inserm.fr	GRCh37	2	211341044	211341044	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000443314.1:c.77G>A	p.Gly26Glu	p.G26E	ENST00000443314		26	gGg/gAg	0	not done		probablydamaging	
PLK1S1		inserm.fr	GRCh37	20	21142567	21142567	+	non_coding_transcript_exon_variant	RNA	SNP	A	T	T			CHC1741T																					ENST00000457464.1:n.125A>T		*42*	ENST00000457464				0	not done		probablydamaging	
PLK1S1		inserm.fr	GRCh37	20	21143059	21143059	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			BCM489T																					ENST00000457464.1:n.617C>T		*206*	ENST00000457464				0	validated		benign	
DNAH3		inserm.fr	GRCh37	16	21147769	21147769	+	synonymous_variant	Silent	SNP	C	T	T			CHC2048T																					ENST00000261383.3:c.762G>A	p.Val254=	p.V254=	ENST00000261383	NM_017539.1	254	gtG/gtA	0	not done		synonymous	
CPS1		inserm.fr	GRCh37	2	211502508	211502508	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC805T																					ENST00000430249.2:c.2788A>T	p.Thr930Ser	p.T930S	ENST00000430249	NM_001122633.2	930	Act/Tct	0	not done		benign	
AP3D1		inserm.fr	GRCh37	19	2115217	2115217	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000355272.6:c.2349+1G>A		p.X783_splice	ENST00000355272	NM_001261826.1			0	not done		damaging	
AP3D1		inserm.fr	GRCh37	19	2115418	2115418	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000355272.6:c.2150-1G>A		p.X717_splice	ENST00000355272	NM_001261826.1			0	not done		damaging	
TRAF5		inserm.fr	GRCh37	1	211545623	211545623	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1725T																					ENST00000261464.5:c.1253G>T	p.Arg418Ile	p.R418I	ENST00000261464	NM_001033910.2	418	aGa/aTa	0	not done		possiblydamaging	
SMARCA2		inserm.fr	GRCh37	9	2115829	2115829	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1715T																					ENST00000382203.1:c.3464A>T	p.Gln1155Leu	p.Q1155L	ENST00000382203		1155	cAg/cTg	0	not done		probablydamaging	
NEBL		inserm.fr	GRCh37	10	21169796	21169796	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1052T																					ENST00000377122.4:c.407T>A	p.Phe136Tyr	p.F136Y	ENST00000377122	NM_006393.2	136	tTc/tAc	0	validated		benign	
SLC30A1		inserm.fr	GRCh37	1	211751737	211751737	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000367001.4:c.218G>A	p.Gly73Asp	p.G73D	ENST00000367001	NM_021194.2	73	gGc/gAc	0	not done		probablydamaging	
EIF4G3		inserm.fr	GRCh37	1	21175945	21175945	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1743T																					ENST00000602326.1:c.3701C>A	p.Ser1234Tyr	p.S1234Y	ENST00000602326	NM_001198802.1	1234	tCt/tAt	0	not done		possiblydamaging	
LDAF1		inserm.fr	GRCh37	16	21181897	21181897	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000233047.4:c.236C>T	p.Ala79Val	p.A79V	ENST00000233047		79	gCt/gTt	0	not done		benign	
EIF4G3		inserm.fr	GRCh37	1	21191166	21191166	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000602326.1:c.2659G>A	p.Ala887Thr	p.A887T	ENST00000602326	NM_001198802.1	887	Gcc/Acc	0	not done		possiblydamaging	
LPGAT1		inserm.fr	GRCh37	1	211966480	211966480	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC302T																					ENST00000366997.4:c.291G>A	p.Met97Ile	p.M97I	ENST00000366997	NM_014873.2	97	atG/atA	0	validated		benign	
IFNA7		inserm.fr	GRCh37	9	21201716	21201716	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC614T									Valid												ENST00000239347.3:c.449T>A	p.Ile150Asn	p.I150N	ENST00000239347	NM_021057.2	150	aTc/aAc	0	validated		probablydamaging	
IFNA10		inserm.fr	GRCh37	9	21207040	21207040	+	synonymous_variant	Silent	SNP	G	T	T			CHC794T																					ENST00000357374.2:c.57C>A	p.Ile19=	p.I19=	ENST00000357374	NM_002171.1	19	atC/atA	0	validated		synonymous	
APOB		inserm.fr	GRCh37	2	21228445	21228445	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC917T																					ENST00000233242.1:c.11295C>A	p.Phe3765Leu	p.F3765L	ENST00000233242	NM_000384.2	3765	ttC/ttA	0	validated		benign	
APOB		inserm.fr	GRCh37	2	21229980	21229980	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC884T									Valid												ENST00000233242.1:c.9760C>A	p.Pro3254Thr	p.P3254T	ENST00000233242	NM_000384.2	3254	Cca/Aca	0	validated		probablydamaging	
APOB		inserm.fr	GRCh37	2	21230026	21230026	+	synonymous_variant	Silent	SNP	A	T	T			BCM439T																					ENST00000233242.1:c.9714T>A	p.Ser3238=	p.S3238=	ENST00000233242	NM_000384.2	3238	tcT/tcA	0	validated		synonymous	
APOB		inserm.fr	GRCh37	2	21231841	21231841	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1566T																					ENST00000233242.1:c.7899C>A	p.Phe2633Leu	p.F2633L	ENST00000233242	NM_000384.2	2633	ttC/ttA	0	not done		probablydamaging	
APOB		inserm.fr	GRCh37	2	21233363	21233363	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1556T																					ENST00000233242.1:c.6377T>A	p.Leu2126Gln	p.L2126Q	ENST00000233242	NM_000384.2	2126	cTg/cAg	0	not done		probablydamaging	
ZNF430		inserm.fr	GRCh37	19	21239935	21239935	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261560.5:c.821C>T	p.Ser274Leu	p.S274L	ENST00000261560	NM_025189.3	274	tCa/tTa	0	not done		benign	
C1orf86		inserm.fr	GRCh37	1	2124343	2124343	+	intron_variant	Intron	SNP	C	T	T			BCM375T																					ENST00000378546.4:c.470+735G>A		*157*	ENST00000378546	NM_182533.2			0	validated			
APOB		inserm.fr	GRCh37	2	21245773	21245773	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000233242.1:c.2746G>A	p.Ala916Thr	p.A916T	ENST00000233242	NM_000384.2	916	Gcc/Acc	0	not done		probablydamaging	
PPP2R5A		inserm.fr	GRCh37	1	212533999	212533999	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC879T																					ENST00000261461.2:c.1348G>T	p.Glu450Ter	p.E450*	ENST00000261461	NM_006243.3	450	Gaa/Taa	0	not done		damaging	
GARIN4		inserm.fr	GRCh37	1	212799702	212799702	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000294829.3:c.1483C>T	p.His495Tyr	p.H495Y	ENST00000294829	NM_153606.3	495	Cac/Tac	0	not done		benign	
XRN2		inserm.fr	GRCh37	20	21324735	21324735	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1028T																					ENST00000377191.3:c.1418C>T	p.Ser473Leu	p.S473L	ENST00000377191	NM_012255.3	473	tCg/tTg	0	not done		benign	
ZNF431		inserm.fr	GRCh37	19	21350427	21350427	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000311048.7:c.277C>T	p.Pro93Ser	p.P93S	ENST00000311048	NM_133473.2	93	Ccc/Tcc	0	not done		possiblydamaging	
TSC2		inserm.fr	GRCh37	16	2136278	2136278	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCB325T									Valid												ENST00000219476.3:c.4747G>T	p.Glu1583Ter	p.E1583*	ENST00000219476	NM_000548.3	1583	Gag/Tag	0	validated		damaging	
NKX2-4		inserm.fr	GRCh37	20	21377936	21377936	+	synonymous_variant	Silent	SNP	C	T	T			CHC051T																					ENST00000351817.4:c.102G>A	p.Ala34=	p.A34=	ENST00000351817	NM_033176.1	34	gcG/gcA	0	validated		synonymous	
IFNA2		inserm.fr	GRCh37	9	21385233	21385233	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000380206.2:c.96G>A	p.Leu32=	p.L32=	ENST00000380206	NM_000605.3	32	ctG/ctA	0	not done		synonymous	
SLC7A4		inserm.fr	GRCh37	22	21385780	21385780	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1774T																					ENST00000382932.2:c.322G>A	p.Val108Ile	p.V108I	ENST00000382932	NM_004173.2	108	Gta/Ata	0	validated		probablydamaging	
LRRC74B		inserm.fr	GRCh37	22	21402352	21402352	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000342608.4:c.415+47C>T		*139*	ENST00000342608				0	not done		synonymous	
C10orf113		inserm.fr	GRCh37	10	21414993	21414993	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000534331.1:c.227G>A	p.Gly76Glu	p.G76E	ENST00000534331	NM_001010896.2	76	gGg/gAg	0	not done		probablydamaging	
PROX1		inserm.fr	GRCh37	1	214209088	214209088	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB157T																					ENST00000366958.4:c.2125G>T	p.Ala709Ser	p.A709S	ENST00000366958	NM_001270616.1	709	Gcc/Tcc	0	validated		benign	
SMYD2		inserm.fr	GRCh37	1	214505401	214505401	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000366957.5:c.978G>T	p.Glu326Asp	p.E326D	ENST00000366957	NM_020197.2	326	gaG/gaT	0	not done		benign	
PTPN14		inserm.fr	GRCh37	1	214560229	214560229	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1602T																					ENST00000366956.5:c.1024G>A	p.Val342Ile	p.V342I	ENST00000366956	NM_005401.4	342	Gtc/Atc	0	not done		benign	
SP4		inserm.fr	GRCh37	7	21468986	21468986	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2098T																					ENST00000222584.3:c.203G>T	p.Gly68Val	p.G68V	ENST00000222584	NM_003112.3	68	gGa/gTa	0	not done		possiblydamaging	
CENPF		inserm.fr	GRCh37	1	214819241	214819241	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1530T																					ENST00000366955.3:c.6328A>T	p.Thr2110Ser	p.T2110S	ENST00000366955	NM_016343.3	2110	Aca/Tca	0	not done		probablydamaging	
NKX2-2		inserm.fr	GRCh37	20	21492909	21492909	+	synonymous_variant	Silent	SNP	G	T	T			CHC1180T																					ENST00000377142.4:c.474C>A	p.Arg158=	p.R158=	ENST00000377142	NM_002509.3	158	cgC/cgA	0	validated		synonymous	
SPAG16		inserm.fr	GRCh37	2	214972930	214972930	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC884T																					ENST00000331683.5:c.1538A>T	p.Glu513Val	p.E513V	ENST00000331683	NM_024532.4	513	gAg/gTg	0	validated		benign	
KCNK2		inserm.fr	GRCh37	1	215259778	215259778	+	synonymous_variant	Silent	SNP	C	T	T			CHC2098T																					ENST00000444842.2:c.114C>T	p.Ser38=	p.S38=	ENST00000444842	NM_014217.3	38	tcC/tcT	0	not done		synonymous	
IGF2		inserm.fr	GRCh37	11	2154422	2154422	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM275T									Valid												ENST00000434045.2:c.506T>A	p.Phe169Tyr	p.F169Y	ENST00000434045	NM_001127598.1	169	tTc/tAc	0	validated		possiblydamaging	
ZNF385D		inserm.fr	GRCh37	3	21552504	21552504	+	synonymous_variant	Silent	SNP	C	T	T			CHC1746T																					ENST00000281523.2:c.288G>A	p.Ala96=	p.A96=	ENST00000281523	NM_024697.2	96	gcG/gcA	0	not done		synonymous	
ZNF219		inserm.fr	GRCh37	14	21558707	21558707	+	synonymous_variant	Silent	SNP	C	T	T			CHC1055T																					ENST00000360947.3:c.2157G>A	p.Gly719=	p.G719=	ENST00000360947	NM_016423.2	719	ggG/ggA	0	validated		synonymous	
ZNF219		inserm.fr	GRCh37	14	21558801	21558801	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC218T																					ENST00000360947.3:c.2063C>A	p.Ala688Asp	p.A688D	ENST00000360947	NM_016423.2	688	gCc/gAc	0	validated		benign	
BARD1		inserm.fr	GRCh37	2	215645796	215645796	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000260947.4:c.802G>A	p.Glu268Lys	p.E268K	ENST00000260947	NM_000465.2	268	Gaa/Aaa	0	not done		probablydamaging	
ABCA12		inserm.fr	GRCh37	2	215890401	215890401	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC218T									Valid												ENST00000272895.7:c.1283C>A	p.Ser428Ter	p.S428*	ENST00000272895	NM_173076.2	428	tCa/tAa	0	validated		damaging	
USH2A		inserm.fr	GRCh37	1	215932011	215932011	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1209T																					ENST00000307340.3:c.11315C>A	p.Pro3772Gln	p.P3772Q	ENST00000307340	NM_206933.2	3772	cCa/cAa	0	not done		probablydamaging	
NELL1		inserm.fr	GRCh37	11	21594863	21594863	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			BCM545T																					ENST00000357134.5:c.2290A>T	p.Arg764Ter	p.R764*	ENST00000357134	NM_201551.1	764	Aga/Tga	0	validated		damaging	
ZNF385D		inserm.fr	GRCh37	3	21606166	21606166	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM723T																					ENST00000281523.2:c.176T>A	p.Ile59Asn	p.I59N	ENST00000281523	NM_024697.2	59	aTt/aAt	0	validated		probablydamaging	
USH2A		inserm.fr	GRCh37	1	216073468	216073468	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC205T									Valid												ENST00000307340.3:c.7543G>A	p.Gly2515Arg	p.G2515R	ENST00000307340	NM_206933.2	2515	Gga/Aga	0	validated		probablydamaging	
USH2A		inserm.fr	GRCh37	1	216166470	216166470	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000307340.3:c.6697G>A	p.Glu2233Lys	p.E2233K	ENST00000307340	NM_206933.2	2233	Gag/Aag	0	not done		benign	
ATIC		inserm.fr	GRCh37	2	216190032	216190032	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2321T																					ENST00000236959.9:c.359C>T	p.Ala120Val	p.A120V	ENST00000236959	NM_004044.6	120	gCt/gTt	0	validated		probablydamaging	
OR5AU1		inserm.fr	GRCh37	14	21624175	21624175	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1738T																					ENST00000304418.3:c.10T>A	p.Phe4Ile	p.F4I	ENST00000304418	NM_001004731.1	4	Ttt/Att	0	not done		benign	
FN1		inserm.fr	GRCh37	2	216289888	216289888	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1751T																					ENST00000354785.4:c.965G>A	p.Trp322Ter	p.W322*	ENST00000354785		322	tGg/tAg	0	not done		damaging	
FN1		inserm.fr	GRCh37	2	216300496	216300496	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000354785.4:c.30G>A	p.Leu10=	p.L10=	ENST00000354785		10	ctG/ctA	0	not done		synonymous	
USH2A		inserm.fr	GRCh37	1	216348651	216348651	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000307340.3:c.4570G>A	p.Gly1524Arg	p.G1524R	ENST00000307340	NM_206933.2	1524	Gga/Aga	0	not done		probablydamaging	
USH2A		inserm.fr	GRCh37	1	216348666	216348666	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000307340.3:c.4555G>A	p.Gly1519Arg	p.G1519R	ENST00000307340	NM_206933.2	1519	Gga/Aga	0	not done		probablydamaging	
USH2A		inserm.fr	GRCh37	1	216373106	216373106	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000307340.3:c.3674G>A	p.Ser1225Asn	p.S1225N	ENST00000307340	NM_206933.2	1225	aGc/aAc	0	not done		benign	
USH2A		inserm.fr	GRCh37	1	216380744	216380744	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000307340.3:c.3187C>A	p.Gln1063Lys	p.Q1063K	ENST00000307340	NM_206933.2	1063	Caa/Aaa	0	not done		benign	
RECQL		inserm.fr	GRCh37	12	21644523	21644523	+	synonymous_variant	Silent	SNP	C	T	T			CHC909T																					ENST00000421138.2:c.144G>A	p.Gln48=	p.Q48=	ENST00000421138		48	caG/caA	0	not done		synonymous	
DNAH11		inserm.fr	GRCh37	7	21657254	21657254	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000328843.6:c.4128C>T	p.Asn1376=	p.N1376=	ENST00000328843		1376	aaC/aaT	0	not done		synonymous	
ESRRG		inserm.fr	GRCh37	1	216737576	216737576	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000366937.1:c.883G>A	p.Ala295Thr	p.A295T	ENST00000366937	NM_001243518.1	295	Gcg/Acg	0	not done		probablydamaging	
KLHL34		inserm.fr	GRCh37	X	21674497	21674497	+	synonymous_variant	Silent	SNP	G	T	T			CHC320T																					ENST00000379499.2:c.1410C>A	p.Val470=	p.V470=	ENST00000379499	NM_153270.1	470	gtC/gtA	0	validated		synonymous	
PKD1		inserm.fr	GRCh37	16	2168087	2168087	+	synonymous_variant	Silent	SNP	G	T	T			CHC1035T																					ENST00000262304.4:c.906C>A	p.Ala302=	p.A302=	ENST00000262304	NM_001009944.2	302	gcC/gcA	0	validated		synonymous	
MREG		inserm.fr	GRCh37	2	216809647	216809647	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000263268.6:c.584G>A	p.Gly195Glu	p.G195E	ENST00000263268	NM_018000.2	195	gGg/gAg	0	not done		probablydamaging	
ESRRG		inserm.fr	GRCh37	1	216880708	216880708	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000366937.1:c.64G>A	p.Ala22Thr	p.A22T	ENST00000366937	NM_001243518.1	22	Gct/Act	0	not done			
PECR		inserm.fr	GRCh37	2	216916260	216916260	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC361TA									Valid												ENST00000265322.7:c.515G>A	p.Gly172Glu	p.G172E	ENST00000265322	NM_018441.5	172	gGa/gAa	0	validated		probablydamaging	
XRCC5		inserm.fr	GRCh37	2	216983824	216983824	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC465T									Valid												ENST00000392133.3:c.427A>T	p.Ser143Cys	p.S143C	ENST00000392133		143	Agc/Tgc	0	validated		probablydamaging	
XRCC5		inserm.fr	GRCh37	2	217012985	217012985	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC796T																					ENST00000392133.3:c.1656A>T	p.Glu552Asp	p.E552D	ENST00000392133		552	gaA/gaT	0	validated		benign	
SMARCAL1		inserm.fr	GRCh37	2	217280194	217280194	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1598T																					ENST00000357276.4:c.767C>T	p.Ala256Val	p.A256V	ENST00000357276	NM_014140.3	256	gCg/gTg	0	not done		probablydamaging	
CABYR		inserm.fr	GRCh37	18	21735836	21735836	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC884T									Valid												ENST00000399496.3:c.371C>T	p.Ser124Leu	p.S124L	ENST00000399496	NM_012189.3	124	tCa/tTa	0	validated		probablydamaging	
OTOA		inserm.fr	GRCh37	16	21747708	21747708	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM545T																					ENST00000388958.3:c.2428C>T	p.Pro810Ser	p.P810S	ENST00000388958	NM_144672.3	810	Cct/Tct	0	validated		benign	
IGFBP5		inserm.fr	GRCh37	2	217559269	217559269	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000233813.4:c.230G>A	p.Gly77Glu	p.G77E	ENST00000233813	NM_000599.3	77	gGg/gAg	0	not done		probablydamaging	
CDH12		inserm.fr	GRCh37	5	21755940	21755940	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC465T									Valid												ENST00000382254.1:c.1645G>A	p.Gly549Arg	p.G549R	ENST00000382254	NM_004061.3	549	Ggg/Agg	0	validated		possiblydamaging	
DOK2		inserm.fr	GRCh37	8	21766873	21766873	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC432T																					ENST00000276420.4:c.1188G>A	p.Trp396Ter	p.W396*	ENST00000276420	NM_003974.2	396	tgG/tgA	0	not done		damaging	
RPGRIP1		inserm.fr	GRCh37	14	21770721	21770721	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC301T																					ENST00000400017.2:c.565G>T	p.Val189Leu	p.V189L	ENST00000400017	NM_020366.3	189	Gta/Tta	0	validated		benign	
HIC2		inserm.fr	GRCh37	22	21799714	21799714	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC437T																					ENST00000443632.2:c.530G>T	p.Gly177Val	p.G177V	ENST00000443632		177	gGg/gTg	0	not done		probablydamaging	
HIC2		inserm.fr	GRCh37	22	21800202	21800202	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC155T																					ENST00000443632.2:c.1018G>T	p.Gly340Cys	p.G340C	ENST00000443632		340	Ggc/Tgc	0	validated		benign	
FAM27L		inserm.fr	GRCh37	17	21826161	21826161	+	non_coding_transcript_exon_variant	RNA	SNP	G	T	T			CHC1725T																					ENST00000426869.3:n.344G>T		*115*	ENST00000426869				0	not done			
XPO7		inserm.fr	GRCh37	8	21834033	21834033	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC1154T																					ENST00000252512.9:c.763+1G>T		p.X255_splice	ENST00000252512	NM_015024.4			0	not done		possiblydamaging	
TNS1		inserm.fr	GRCh37	2	218678476	218678476	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2358T																					ENST00000171887.4:c.4481G>A	p.Arg1494Gln	p.R1494Q	ENST00000171887	NM_022648.4	1494	cGa/cAa	0	validated		probablydamaging	
YY2		inserm.fr	GRCh37	X	21874817	21874817	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM325T																					ENST00000429584.2:c.215G>T	p.Gly72Val	p.G72V	ENST00000429584	NM_206923.3	72	gGc/gTc	0	validated		benign	
CHD8		inserm.fr	GRCh37	14	21876913	21876913	+	synonymous_variant	Silent	SNP	C	T	T			CHC1629T																					ENST00000399982.2:c.2436G>A	p.Arg812=	p.R812=	ENST00000399982	NM_001170629.1	812	cgG/cgA	0	not done		synonymous	
NPM2		inserm.fr	GRCh37	8	21882807	21882807	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000397940.1:c.48C>T	p.Thr16=	p.T16=	ENST00000397940		16	acC/acT	0	not done		synonymous	
RUFY4		inserm.fr	GRCh37	2	218938006	218938006	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC059T																					ENST00000374155.3:c.427C>T	p.Arg143Cys	p.R143C	ENST00000374155		143	Cgc/Tgc	0	validated			
CXCR2		inserm.fr	GRCh37	2	219000599	219000599	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC889T																					ENST00000318507.2:c.1075A>T	p.Thr359Ser	p.T359S	ENST00000318507	NM_001557.3	359	Act/Tct	0	not done		probablydamaging	
C2orf62		inserm.fr	GRCh37	2	219232600	219232600	+	synonymous_variant	Silent	SNP	G	T	T			CHC1211T																					ENST00000289388.3:c.1077G>T	p.Pro359=	p.P359=	ENST00000289388	NM_198559.1	359	ccG/ccT	0	not done		synonymous	
SLC11A1		inserm.fr	GRCh37	2	219249066	219249066	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000233202.6:c.251C>T	p.Ala84Val	p.A84V	ENST00000233202	NM_000578.3	84	gCt/gTt	0	not done		probablydamaging	
SLC11A1		inserm.fr	GRCh37	2	219257848	219257848	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000233202.6:c.1309C>T	p.Leu437=	p.L437=	ENST00000233202	NM_000578.3	437	Ctg/Ttg	0	not done		synonymous	
SLC11A1		inserm.fr	GRCh37	2	219258891	219258891	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000233202.6:c.1363C>T	p.Leu455Phe	p.L455F	ENST00000233202	NM_000578.3	455	Ctc/Ttc	0	not done		possiblydamaging	
RAP1GAP		inserm.fr	GRCh37	1	21932568	21932568	+	synonymous_variant	Silent	SNP	C	T	T			CHC1211T																					ENST00000290101.4:c.1611G>A	p.Ala537=	p.A537=	ENST00000290101	NM_001145658.1	537	gcG/gcA	0	not done		synonymous	
CDCA7L		inserm.fr	GRCh37	7	21945906	21945906	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC1708T																					ENST00000406877.3:c.921+1G>A		p.X307_splice	ENST00000406877	NM_018719.4			0	not done		possiblydamaging	
STK36		inserm.fr	GRCh37	2	219556943	219556943	+	synonymous_variant	Silent	SNP	G	T	T			BCB325T																					ENST00000295709.3:c.1842G>T	p.Thr614=	p.T614=	ENST00000295709	NM_015690.4	614	acG/acT	0	validated		synonymous	
TOX4		inserm.fr	GRCh37	14	21955788	21955788	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM371T																					ENST00000405508.1:c.254C>T	p.Pro85Leu	p.P85L	ENST00000405508		85	cCt/cTt	0	validated		probablydamaging	
TOX4		inserm.fr	GRCh37	14	21961020	21961020	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1595T																					ENST00000405508.1:c.1245A>T	p.Gln415His	p.Q415H	ENST00000405508		415	caA/caT	0	validated		probablydamaging	
CYP27A1		inserm.fr	GRCh37	2	219677303	219677303	+	synonymous_variant	Silent	SNP	C	T	T			CHC1052T																					ENST00000258415.4:c.675C>T	p.Arg225=	p.R225=	ENST00000258415	NM_000784.3	225	cgC/cgT	0	validated		synonymous	
HR		inserm.fr	GRCh37	8	21973245	21973245	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM703T																					ENST00000381418.4:c.3538G>A	p.Val1180Met	p.V1180M	ENST00000381418	NM_005144.4	1180	Gtg/Atg	0	validated		possiblydamaging	
WNT6		inserm.fr	GRCh37	2	219738212	219738212	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000233948.3:c.743C>T	p.Ala248Val	p.A248V	ENST00000233948	NM_006522.3	248	gCg/gTg	0	not done		benign	
WNT6		inserm.fr	GRCh37	2	219738273	219738273	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000233948.3:c.804C>T	p.Ala268=	p.A268=	ENST00000233948	NM_006522.3	268	gcC/gcT	0	not done		synonymous	
CDKN2A		inserm.fr	GRCh37	9	21974792	21974792	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1751T									Valid												ENST00000304494.5:c.35C>A	p.Ser12Ter	p.S12*	ENST00000304494	NM_000077.4	12	tCg/tAg	0	validated		damaging	
WNT10A		inserm.fr	GRCh37	2	219754741	219754741	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1712T																					ENST00000258411.3:c.412G>T	p.Ala138Ser	p.A138S	ENST00000258411	NM_025216.2	138	Gca/Tca	0	not done		possiblydamaging	
HR		inserm.fr	GRCh37	8	21982855	21982855	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000381418.4:c.1719G>A	p.Glu573=	p.E573=	ENST00000381418	NM_005144.4	573	gaG/gaA	0	not done		synonymous	
FEV		inserm.fr	GRCh37	2	219846402	219846402	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000295727.1:c.704G>A	p.Gly235Asp	p.G235D	ENST00000295727	NM_017521.2	235	gGc/gAc	0	not done		benign	
HR		inserm.fr	GRCh37	8	21984998	21984998	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000381418.4:c.957G>A	p.Pro319=	p.P319=	ENST00000381418	NM_005144.4	319	ccG/ccA	0	not done		synonymous	
CRYBA2		inserm.fr	GRCh37	2	219857879	219857879	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000295728.2:c.20C>A	p.Pro7Gln	p.P7Q	ENST00000295728	NM_057093.1	7	cCg/cAg	0	not done		benign	
HR		inserm.fr	GRCh37	8	21986209	21986209	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2098T																					ENST00000381418.4:c.475G>A	p.Val159Met	p.V159M	ENST00000381418	NM_005144.4	159	Gtg/Atg	0	not done		benign	
CCDC108		inserm.fr	GRCh37	2	219875383	219875383	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1185T																					ENST00000341552.5:c.4193T>A	p.Ile1398Asn	p.I1398N	ENST00000341552	NM_194302.3	1398	aTc/aAc	0	not done		probablydamaging	
CCDC116		inserm.fr	GRCh37	22	21988388	21988388	+	synonymous_variant	Silent	SNP	C	T	T			CHC1010T																					ENST00000292779.3:c.150C>T	p.Ser50=	p.S50=	ENST00000292779	NM_152612.2	50	tcC/tcT	0	not done		synonymous	
CCDC108		inserm.fr	GRCh37	2	219900166	219900166	+	intron_variant	Intron	SNP	C	T	T			BCM543T																					ENST00000341552.5:c.542+36G>A		*181*	ENST00000341552	NM_194302.3			0	validated			
SALL2		inserm.fr	GRCh37	14	21991545	21991545	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000327430.3:c.2317G>A	p.Glu773Lys	p.E773K	ENST00000327430	NM_005407.1	773	Gaa/Aaa	0	not done		possiblydamaging	
IHH		inserm.fr	GRCh37	2	219920138	219920138	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000295731.6:c.1027G>A	p.Val343Met	p.V343M	ENST00000295731	NM_002181.3	343	Gtg/Atg	0	not done		probablydamaging	
ZNF43		inserm.fr	GRCh37	19	21992119	21992119	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1053T									Valid												ENST00000354959.4:c.720T>A	p.Asn240Lys	p.N240K	ENST00000354959	NM_003423.3	240	aaT/aaA	0	validated		benign	
SDF2L1		inserm.fr	GRCh37	22	21996636	21996636	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1744T																					ENST00000248958.4:c.11C>T	p.Ala4Val	p.A4V	ENST00000248958	NM_022044.2	4	gCg/gTg	0	validated		benign	
EPRS		inserm.fr	GRCh37	1	220145482	220145482	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1601T																					ENST00000366923.3:c.4252G>A	p.Glu1418Lys	p.E1418K	ENST00000366923	NM_004446.2	1418	Gaa/Aaa	0	not done		benign	
RAB26		inserm.fr	GRCh37	16	2201751	2201751	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1186T																					ENST00000210187.6:c.404G>T	p.Arg135Leu	p.R135L	ENST00000210187	NM_014353.4	135	cGg/cTg	0	validated		probablydamaging	
SFTPC		inserm.fr	GRCh37	8	22020972	22020972	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000318561.3:c.348C>T	p.Ala116=	p.A116=	ENST00000318561	NM_001172410.1	116	gcC/gcT	0	not done		synonymous	
MLLT10		inserm.fr	GRCh37	10	22024095	22024095	+	synonymous_variant	Silent	SNP	C	T	T			CHC801T																					ENST00000307729.7:c.2886C>T	p.Asp962=	p.D962=	ENST00000307729		962	gaC/gaT	0	not done		synonymous	
DES		inserm.fr	GRCh37	2	220284842	220284842	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCB157T																					ENST00000373960.3:c.604G>T	p.Glu202Ter	p.E202*	ENST00000373960	NM_001927.3	202	Gaa/Taa	0	validated		damaging	
DES		inserm.fr	GRCh37	2	220285642	220285642	+	synonymous_variant	Silent	SNP	C	T	T			CHC1568T																					ENST00000373960.3:c.990C>T	p.Ser330=	p.S330=	ENST00000373960	NM_001927.3	330	tcC/tcT	0	not done		synonymous	
MLLT10		inserm.fr	GRCh37	10	22028983	22028983	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000307729.7:c.2980C>T	p.Gln994Ter	p.Q994*	ENST00000307729		994	Cag/Tag	0	not done		damaging	
SPEG		inserm.fr	GRCh37	2	220309807	220309807	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1594T																					ENST00000312358.7:c.739G>T	p.Asp247Tyr	p.D247Y	ENST00000312358	NM_005876.4	247	Gat/Tat	0	not done		probablydamaging	
SPEG		inserm.fr	GRCh37	2	220313130	220313130	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1205T																					ENST00000312358.7:c.1250G>T	p.Ser417Ile	p.S417I	ENST00000312358	NM_005876.4	417	aGc/aTc	0	not done		probablydamaging	
SPEG		inserm.fr	GRCh37	2	220329315	220329315	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000312358.7:c.2866C>T	p.Arg956Cys	p.R956C	ENST00000312358	NM_005876.4	956	Cgc/Tgc	0	not done		probablydamaging	
SPEG		inserm.fr	GRCh37	2	220338463	220338463	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM617T																					ENST00000312358.7:c.4285C>T	p.Leu1429Phe	p.L1429F	ENST00000312358	NM_005876.4	1429	Ctc/Ttc	0	validated		probablydamaging	
SPEG		inserm.fr	GRCh37	2	220352990	220352990	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000312358.7:c.7816C>T	p.Leu2606=	p.L2606=	ENST00000312358	NM_005876.4	2606	Ctg/Ttg	0	not done		synonymous	
SPEG		inserm.fr	GRCh37	2	220353792	220353792	+	synonymous_variant	Silent	SNP	C	T	T			CHC1545T																					ENST00000312358.7:c.8166C>T	p.His2722=	p.H2722=	ENST00000312358	NM_005876.4	2722	caC/caT	0	validated		synonymous	
ASIC4		inserm.fr	GRCh37	2	220402012	220402012	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC801T																					ENST00000347842.3:c.1694C>T	p.Thr565Met	p.T565M	ENST00000347842	NM_182847.2	565	aCg/aTg	0	not done		probablydamaging	
ASIC4		inserm.fr	GRCh37	2	220402405	220402405	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2127T																					ENST00000347842.3:c.1777C>T	p.Arg593Trp	p.R593W	ENST00000347842	NM_182847.2	593	Cgg/Tgg	0	not done		probablydamaging	
CHPF		inserm.fr	GRCh37	2	220406415	220406415	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC912T																					ENST00000243776.6:c.811G>A	p.Val271Ile	p.V271I	ENST00000243776	NM_024536.5	271	Gtc/Atc	0	validated		benign	
OBSL1		inserm.fr	GRCh37	2	220416465	220416465	+	synonymous_variant	Silent	SNP	G	T	T			CHC197T																					ENST00000404537.1:c.5469C>A	p.Gly1823=	p.G1823=	ENST00000404537	NM_015311.2	1823	ggC/ggA	0	validated		synonymous	
OBSL1		inserm.fr	GRCh37	2	220423154	220423154	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1545T																					ENST00000404537.1:c.3254C>A	p.Ala1085Glu	p.A1085E	ENST00000404537	NM_015311.2	1085	gCa/gAa	0	validated		possiblydamaging	
OBSL1		inserm.fr	GRCh37	2	220432478	220432478	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2110Tbis																					ENST00000404537.1:c.1496T>A	p.Leu499Gln	p.L499Q	ENST00000404537	NM_015311.2	499	cTg/cAg	0	not done		probablydamaging	
INHA		inserm.fr	GRCh37	2	220440059	220440059	+	synonymous_variant	Silent	SNP	C	T	T			CHC1731T																					ENST00000243786.2:c.912C>T	p.Ser304=	p.S304=	ENST00000243786	NM_002191.3	304	tcC/tcT	0	not done		synonymous	
STK11IP		inserm.fr	GRCh37	2	220474097	220474097	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM275T									Valid												ENST00000295641.10:c.1972G>T	p.Val658Leu	p.V658L	ENST00000295641	NM_052902.2	658	Gtg/Ttg	0	validated		possiblydamaging	
PPIL2		inserm.fr	GRCh37	22	22049754	22049754	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB301T																					ENST00000412327.1:c.1534G>T	p.Val512Phe	p.V512F	ENST00000412327	NM_148176.2	512	Gtt/Ttt	0	validated		benign	
SLC4A3		inserm.fr	GRCh37	2	220501470	220501470	+	synonymous_variant	Silent	SNP	C	T	T			CHC1600T																					ENST00000373762.3:c.2490C>T	p.Phe830=	p.F830=	ENST00000373762	NM_005070.3	830	ttC/ttT	0	not done		synonymous	
MICU2		inserm.fr	GRCh37	13	22067431	22067431	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000382374.4:c.1262G>A	p.Gly421Glu	p.G421E	ENST00000382374	NM_152726.2	421	gGa/gAa	0	not done		probablydamaging	
MARK1		inserm.fr	GRCh37	1	220825479	220825479	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1597T																					ENST00000366917.4:c.1723G>T	p.Ala575Ser	p.A575S	ENST00000366917	NM_001286124.1	575	Gct/Tct	0	not done		benign	
MARK1		inserm.fr	GRCh37	1	220826449	220826449	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000366917.4:c.1743C>T	p.Thr581=	p.T581=	ENST00000366917	NM_001286124.1	581	acC/acT	0	not done		synonymous	
MARK1		inserm.fr	GRCh37	1	220835463	220835463	+	synonymous_variant	Silent	SNP	C	T	T			CHC1704T																					ENST00000366917.4:c.2343C>T	p.Ala781=	p.A781=	ENST00000366917	NM_001286124.1	781	gcC/gcT	0	not done		synonymous	
HLX		inserm.fr	GRCh37	1	221053206	221053206	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1190T																					ENST00000366903.6:c.7G>T	p.Ala3Ser	p.A3S	ENST00000366903	NM_021958.3	3	Gca/Tca	0	validated		possiblydamaging	
VWA3A		inserm.fr	GRCh37	16	22135021	22135021	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1751T																					ENST00000389398.5:c.1525G>T	p.Glu509Ter	p.E509*	ENST00000389398	NM_173615.3	509	Gaa/Taa	0	not done		damaging	
POLN		inserm.fr	GRCh37	4	2214787	2214787	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC433T									Valid												ENST00000511885.2:c.200C>A	p.Ser67Ter	p.S67*	ENST00000511885		67	tCa/tAa	0	validated		damaging	
HSPG2		inserm.fr	GRCh37	1	22154790	22154790	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000374695.3:c.12367G>A	p.Gly4123Ser	p.G4123S	ENST00000374695	NM_005529.5	4123	Ggc/Agc	0	not done		probablydamaging	
HSPG2		inserm.fr	GRCh37	1	22159996	22159996	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000374695.3:c.10942G>A	p.Gly3648Ser	p.G3648S	ENST00000374695	NM_005529.5	3648	Ggc/Agc	0	not done		probablydamaging	
HSPG2		inserm.fr	GRCh37	1	22162033	22162033	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000374695.3:c.10453G>A	p.Ala3485Thr	p.A3485T	ENST00000374695	NM_005529.5	3485	Gcc/Acc	0	not done		possiblydamaging	
DOT1L		inserm.fr	GRCh37	19	2216701	2216701	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC789T																					ENST00000398665.3:c.2345G>T	p.Arg782Met	p.R782M	ENST00000398665	NM_032482.2	782	aGg/aTg	0	not done		probablydamaging	
ZNF208		inserm.fr	GRCh37	19	22171667	22171667	+	synonymous_variant	Silent	SNP	C	T	T			CHC1736T																					ENST00000397126.4:c.48G>A	p.Glu16=	p.E16=	ENST00000397126	NM_007153.3	16	gaG/gaA	0	not done		synonymous	
HSPG2		inserm.fr	GRCh37	1	22188274	22188274	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000374695.3:c.4931G>A	p.Gly1644Asp	p.G1644D	ENST00000374695	NM_005529.5	1644	gGc/gAc	0	not done		probablydamaging	
HSPG2		inserm.fr	GRCh37	1	22207840	22207840	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000374695.3:c.1810G>A	p.Gly604Ser	p.G604S	ENST00000374695	NM_005529.5	604	Ggc/Agc	0	not done		probablydamaging	
HSPG2		inserm.fr	GRCh37	1	22216572	22216572	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM617T																					ENST00000374695.3:c.476C>A	p.Ala159Asp	p.A159D	ENST00000374695	NM_005529.5	159	gCt/gAt	0	validated		benign	
TRAF7		inserm.fr	GRCh37	16	2223213	2223213	+	synonymous_variant	Silent	SNP	C	T	T			CHC1052T																					ENST00000326181.6:c.825C>T	p.Tyr275=	p.Y275=	ENST00000326181	NM_032271.2	275	taC/taT	0	validated		synonymous	
TRAF7		inserm.fr	GRCh37	16	2223537	2223537	+	synonymous_variant	Silent	SNP	G	T	T			CHC796T																					ENST00000326181.6:c.1068G>T	p.Arg356=	p.R356=	ENST00000326181	NM_032271.2	356	cgG/cgT	0	validated		synonymous	
EPHA4		inserm.fr	GRCh37	2	222428753	222428753	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1052T									Valid												ENST00000281821.2:c.521G>A	p.Gly174Glu	p.G174E	ENST00000281821	NM_004438.3	174	gGg/gAg	0	validated		possiblydamaging	
EPHA4		inserm.fr	GRCh37	2	222428812	222428812	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000281821.2:c.462C>A	p.Phe154Leu	p.F154L	ENST00000281821	NM_004438.3	154	ttC/ttA	0	not done		probablydamaging	
SLC39A14		inserm.fr	GRCh37	8	22272293	22272293	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1704T									Valid												ENST00000359741.5:c.628G>T	p.Ala210Ser	p.A210S	ENST00000359741	NM_015359.4	210	Gca/Tca	0	validated		probablydamaging	
PRL		inserm.fr	GRCh37	6	22294643	22294643	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2213T																					ENST00000306482.1:c.199G>A	p.Glu67Lys	p.E67K	ENST00000306482	NM_000948.5	67	Gaa/Aaa	0	not done		probablydamaging	
PRL		inserm.fr	GRCh37	6	22294688	22294688	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1915T																					ENST00000306482.1:c.154G>A	p.Val52Ile	p.V52I	ENST00000306482	NM_000948.5	52	Gtc/Atc	0	validated		benign	
CASKIN1		inserm.fr	GRCh37	16	2229736	2229736	+	synonymous_variant	Silent	SNP	C	T	T			BCM489T																					ENST00000343516.6:c.3633G>A	p.Leu1211=	p.L1211=	ENST00000343516	NM_020764.3	1211	ttG/ttA	0	validated		synonymous	
PAX3		inserm.fr	GRCh37	2	223066714	223066714	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000392069.2:c.1369G>A	p.Gly457Ser	p.G457S	ENST00000392069	NM_001127366.2	457	Ggc/Agc	0	not done		possiblydamaging	
TOP3B		inserm.fr	GRCh37	22	22314043	22314043	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000398793.2:c.1720G>A	p.Gly574Ser	p.G574S	ENST00000398793	NM_003935.3	574	Ggc/Agc	0	not done		probablydamaging	
TRAV8-2		inserm.fr	GRCh37	14	22315238	22315238	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000390434.3:c.176C>T	p.Pro59Leu	p.P59L	ENST00000390434		59	cCc/cTc	0	not done			
TLR5		inserm.fr	GRCh37	1	223284875	223284875	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000540964.1:c.1499G>A	p.Gly500Glu	p.G500E	ENST00000540964		500	gGa/gAa	0	not done		benign	
POLR3E		inserm.fr	GRCh37	16	22336578	22336578	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM339T																					ENST00000299853.5:c.1339G>T	p.Ala447Ser	p.A447S	ENST00000299853	NM_001258033.1	447	Gca/Tca	0	validated		benign	
SUSD4		inserm.fr	GRCh37	1	223536687	223536687	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000343846.3:c.81G>A	p.Gln27=	p.Q27=	ENST00000343846		27	caG/caA	0	not done		synonymous	
TSR1		inserm.fr	GRCh37	17	2235581	2235581	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC326T									Valid												ENST00000301364.5:c.1378G>A	p.Asp460Asn	p.D460N	ENST00000301364	NM_018128.4	460	Gat/Aat	0	validated		probablydamaging	
ACSL3		inserm.fr	GRCh37	2	223789291	223789291	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000357430.3:c.1270C>T	p.Arg424Cys	p.R424C	ENST00000357430	NM_004457.3	424	Cgt/Tgt	0	validated		benign	
KCNE4		inserm.fr	GRCh37	2	223917711	223917711	+	synonymous_variant	Silent	SNP	C	T	T			BCM337T																					ENST00000604125.1:c.163C>T	p.Leu55=	p.L55=	ENST00000604125		55	Ctg/Ttg	0	validated		synonymous	
SLC17A6		inserm.fr	GRCh37	11	22399059	22399059	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000263160.3:c.1522C>T	p.Pro508Ser	p.P508S	ENST00000263160	NM_020346.2	508	Ccg/Tcg	0	not done		possiblydamaging	
TP53BP2		inserm.fr	GRCh37	1	223990979	223990979	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000343537.7:c.825G>A	p.Glu275=	p.E275=	ENST00000343537	NM_001031685.2	275	gaG/gaA	0	not done		synonymous	
FBXO28		inserm.fr	GRCh37	1	224301843	224301843	+	synonymous_variant	Silent	SNP	G	T	T			CHC1052T																					ENST00000366862.5:c.12G>T	p.Ala4=	p.A4=	ENST00000366862	NM_015176.3	4	gcG/gcT	0	validated		synonymous	
GPR125		inserm.fr	GRCh37	4	22438140	22438140	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000334304.5:c.1210G>A	p.Gly404Ser	p.G404S	ENST00000334304	NM_145290.3	404	Ggc/Agc	0	not done		possiblydamaging	
SCG2		inserm.fr	GRCh37	2	224462933	224462933	+	synonymous_variant	Silent	SNP	C	T	T			CHC1602T																					ENST00000305409.2:c.1068G>A	p.Arg356=	p.R356=	ENST00000305409	NM_003469.4	356	agG/agA	0	not done		synonymous	
DMRTA1		inserm.fr	GRCh37	9	22451245	22451245	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM257T																					ENST00000325870.2:c.850G>T	p.Glu284Ter	p.E284*	ENST00000325870	NM_022160.2	284	Gag/Tag	0	validated		damaging	
SDHA		inserm.fr	GRCh37	5	224542	224542	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000264932.6:c.218G>T	p.Gly73Val	p.G73V	ENST00000264932	NM_004168.2	73	gGc/gTc	0	not done		probablydamaging	
CNIH4		inserm.fr	GRCh37	1	224544669	224544669	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1186T																					ENST00000465271.1:c.43G>T	p.Ala15Ser	p.A15S	ENST00000465271	NM_014184.3	15	Gcg/Tcg	0	validated		benign	
AP1S3		inserm.fr	GRCh37	2	224642492	224642492	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000396654.2:c.98G>A	p.Arg33Gln	p.R33Q	ENST00000396654	NM_001039569.1	33	cGg/cAg	0	not done		possiblydamaging	
ZNF729		inserm.fr	GRCh37	19	22496950	22496950	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000601693.1:c.731C>T	p.Ala244Val	p.A244V	ENST00000601693		244	gCc/gTc	0	not done			
ZNF729		inserm.fr	GRCh37	19	22497900	22497900	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1742T																					ENST00000601693.1:c.1681G>T	p.Val561Leu	p.V561L	ENST00000601693		561	Gta/Tta	0	validated			
ZNF729		inserm.fr	GRCh37	19	22499779	22499779	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC451T																					ENST00000601693.1:c.3560C>T	p.Pro1187Leu	p.P1187L	ENST00000601693		1187	cCc/cTc	0	validated			
AMH		inserm.fr	GRCh37	19	2250695	2250695	+	synonymous_variant	Silent	SNP	G	T	T			CHC961T																					ENST00000221496.4:c.600G>T	p.Val200=	p.V200=	ENST00000221496	NM_000479.3	200	gtG/gtT	0	validated		synonymous	
MORN1		inserm.fr	GRCh37	1	2252860	2252860	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000378531.3:c.1456G>A	p.Ala486Thr	p.A486T	ENST00000378531	NM_024848.1	486	Gcc/Acc	0	validated		benign	
DNAH14		inserm.fr	GRCh37	1	225525129	225525129	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	T	T			CHC097T																					ENST00000327794.6:c.3139C>T	p.Ser1047=	p.S1047=	ENST00000327794		1047	tcC/tcT	0	not done		synonymous	
MAD1L1		inserm.fr	GRCh37	7	2255604	2255604	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000406869.1:c.840G>A	p.Gln280=	p.Q280=	ENST00000406869		280	caG/caA	0	not done		synonymous	
HDGFL1		inserm.fr	GRCh37	6	22570477	22570477	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000510882.2:c.673C>T	p.Arg225Trp	p.R225W	ENST00000510882		225	Cgg/Tgg	0	not done		probablydamaging	
DOCK10		inserm.fr	GRCh37	2	225751220	225751220	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1028T																					ENST00000258390.7:c.445T>A	p.Ser149Thr	p.S149T	ENST00000258390	NM_014689.2	149	Tca/Aca	0	not done		probablydamaging	
ZMYND11		inserm.fr	GRCh37	10	226013	226013	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000397962.3:c.61G>T	p.Ala21Ser	p.A21S	ENST00000397962		21	Gcc/Tcc	0	not done		probablydamaging	
SDE2		inserm.fr	GRCh37	1	226173195	226173195	+	synonymous_variant	Silent	SNP	C	T	T			CHC1715T																					ENST00000272091.7:c.1164G>A	p.Leu388=	p.L388=	ENST00000272091	NM_152608.3	388	ttG/ttA	0	not done		synonymous	
NYAP2		inserm.fr	GRCh37	2	226273640	226273640	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000272907.6:c.44C>T	p.Pro15Leu	p.P15L	ENST00000272907	NM_020864.1	15	cCt/cTt	0	not done		benign	
ACBD3		inserm.fr	GRCh37	1	226340274	226340274	+	synonymous_variant	Silent	SNP	C	T	T			CHC1741T																					ENST00000366812.5:c.1137G>A	p.Gln379=	p.Q379=	ENST00000366812	NM_022735.3	379	caG/caA	0	not done		synonymous	
PGP		inserm.fr	GRCh37	16	2263994	2263994	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000333503.7:c.701G>A	p.Gly234Glu	p.G234E	ENST00000333503	NM_001042371.2	234	gGg/gAg	0	not done		probablydamaging	
PARP1		inserm.fr	GRCh37	1	226561987	226561987	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000366794.5:c.2010G>A	p.Gln670=	p.Q670=	ENST00000366794	NM_001618.3	670	caG/caA	0	not done		synonymous	
C1orf95		inserm.fr	GRCh37	1	226736739	226736739	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000366788.3:c.134C>T	p.Ala45Val	p.A45V	ENST00000366788	NM_001003665.3	45	gCc/gTc	0	not done		probablydamaging	
ITPKB		inserm.fr	GRCh37	1	226924885	226924885	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000429204.1:c.275G>A	p.Ser92Asn	p.S92N	ENST00000429204	NM_002221.3	92	aGc/aAc	0	not done		possiblydamaging	
GAS2		inserm.fr	GRCh37	11	22696444	22696444	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000454584.2:c.29G>T	p.Arg10Leu	p.R10L	ENST00000454584	NM_001143830.1	10	cGc/cTc	0	not done		possiblydamaging	
OAZ1		inserm.fr	GRCh37	19	2271924	2271924	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000602676.2:c.435C>T	p.Gly145=	p.G145=	ENST00000602676	NM_004152.2	145	ggC/ggT	0	validated			
CDC42BPA		inserm.fr	GRCh37	1	227219209	227219209	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000366769.3:c.3460G>A	p.Ala1154Thr	p.A1154T	ENST00000366769	NM_003607.3	1154	Gct/Act	0	not done		benign	
SGSM2		inserm.fr	GRCh37	17	2275701	2275701	+	synonymous_variant	Silent	SNP	C	T	T			CHC051T																					ENST00000268989.3:c.1707C>T	p.Ser569=	p.S569=	ENST00000268989	NM_014853.2	569	agC/agT	0	validated		synonymous	
IRS1		inserm.fr	GRCh37	2	227660101	227660101	+	synonymous_variant	Silent	SNP	G	T	T			CHC1154T																					ENST00000305123.5:c.3354C>A	p.Pro1118=	p.P1118=	ENST00000305123	NM_005544.2	1118	ccC/ccA	0	not done		synonymous	
IL6		inserm.fr	GRCh37	7	22769237	22769237	+	synonymous_variant	Silent	SNP	G	T	T			CHC2208T																					ENST00000404625.1:c.429G>T	p.Val143=	p.V143=	ENST00000404625		143	gtG/gtT	0	not done		synonymous	
ETNK1		inserm.fr	GRCh37	12	22778329	22778329	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000266517.4:c.232G>T	p.Val78Phe	p.V78F	ENST00000266517	NM_018638.4	78	Gtc/Ttc	0	not done		possiblydamaging	
ETNK1		inserm.fr	GRCh37	12	22778491	22778491	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2052T																					ENST00000266517.4:c.394C>T	p.His132Tyr	p.H132Y	ENST00000266517	NM_018638.4	132	Cac/Tac	0	not done		benign	
C19orf35		inserm.fr	GRCh37	19	2278618	2278618	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000342063.3:c.577G>A	p.Ala193Thr	p.A193T	ENST00000342063	NM_198532.2	193	Gcg/Acg	0	validated		benign	
COL4A4		inserm.fr	GRCh37	2	227895177	227895177	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC884T																					ENST00000396625.3:c.3955G>A	p.Gly1319Arg	p.G1319R	ENST00000396625	NM_000092.4	1319	Gga/Aga	0	validated		probablydamaging	
COL4A4		inserm.fr	GRCh37	2	227915734	227915734	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1600T																					ENST00000396625.3:c.3109C>A	p.Leu1037Ile	p.L1037I	ENST00000396625	NM_000092.4	1037	Cta/Ata	0	not done		benign	
PRSS38		inserm.fr	GRCh37	1	228003516	228003516	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1714T																					ENST00000366757.3:c.99G>T	p.Leu33Phe	p.L33F	ENST00000366757	NM_183062.2	33	ttG/ttT	0	not done		benign	
PRSS38		inserm.fr	GRCh37	1	228005140	228005140	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000366757.3:c.542C>T	p.Ala181Val	p.A181V	ENST00000366757	NM_183062.2	181	gCc/gTc	0	not done		benign	
COL4A3		inserm.fr	GRCh37	2	228029469	228029469	+	synonymous_variant	Silent	SNP	G	T	T			CHC912T																					ENST00000396578.3:c.27G>T	p.Pro9=	p.P9=	ENST00000396578	NM_000091.4	9	ccG/ccT	0	validated		synonymous	
ZNF521		inserm.fr	GRCh37	18	22804647	22804647	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC451T																					ENST00000361524.3:c.3235G>A	p.Asp1079Asn	p.D1079N	ENST00000361524	NM_015461.2	1079	Gat/Aat	0	validated		probablydamaging	
ZNF521		inserm.fr	GRCh37	18	22807532	22807532	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC703T																					ENST00000361524.3:c.350C>A	p.Pro117Gln	p.P117Q	ENST00000361524	NM_015461.2	117	cCa/cAa	0	validated		probablydamaging	
COL4A3		inserm.fr	GRCh37	2	228109038	228109038	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000396578.3:c.237C>T	p.Gly79=	p.G79=	ENST00000396578	NM_000091.4	79	ggC/ggT	0	not done		synonymous	
COL4A3		inserm.fr	GRCh37	2	228175571	228175571	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000396578.3:c.4835C>T	p.Pro1612Leu	p.P1612L	ENST00000396578	NM_000091.4	1612	cCa/cTa	0	not done		probablydamaging	
HS3ST2		inserm.fr	GRCh37	16	22826109	22826109	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC051T																					ENST00000261374.3:c.178A>T	p.Ser60Cys	p.S60C	ENST00000261374	NM_006043.1	60	Agc/Tgc	0	validated		benign	
GUK1		inserm.fr	GRCh37	1	228328022	228328022	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1205T																					ENST00000366728.2:c.19G>T	p.Ala7Ser	p.A7S	ENST00000366728	NM_001242840.1	7	Gcc/Tcc	0	not done		benign	
IBA57		inserm.fr	GRCh37	1	228353827	228353827	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1209T																					ENST00000366711.3:c.310G>T	p.Gly104Cys	p.G104C	ENST00000366711	NM_001010867.2	104	Ggc/Tgc	0	not done		probablydamaging	
IBA57		inserm.fr	GRCh37	1	228353835	228353835	+	synonymous_variant	Silent	SNP	G	T	T			CHC327T																					ENST00000366711.3:c.318G>T	p.Thr106=	p.T106=	ENST00000366711	NM_001010867.2	106	acG/acT	0	validated		synonymous	
OBSCN		inserm.fr	GRCh37	1	228400003	228400003	+	synonymous_variant	Silent	SNP	G	T	T			CHC961T																					ENST00000570156.2:c.519G>T	p.Ala173=	p.A173=	ENST00000570156	NM_001271223.2	173	gcG/gcT	0	validated		synonymous	
OBSCN		inserm.fr	GRCh37	1	228400519	228400519	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000295012.5:c.239+604G>A		*80*	ENST00000295012				0	not done			
OBSCN		inserm.fr	GRCh37	1	228401967	228401967	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000570156.2:c.1351G>T	p.Val451Phe	p.V451F	ENST00000570156	NM_001271223.2	451	Gtc/Ttc	0	not done		possiblydamaging	
OBSCN		inserm.fr	GRCh37	1	228403451	228403451	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1629T																					ENST00000570156.2:c.2016G>T	p.Glu672Asp	p.E672D	ENST00000570156	NM_001271223.2	672	gaG/gaT	0	not done		possiblydamaging	
OBSCN		inserm.fr	GRCh37	1	228434231	228434231	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC909T																					ENST00000570156.2:c.4036C>T	p.Pro1346Ser	p.P1346S	ENST00000570156	NM_001271223.2	1346	Ccc/Tcc	0	not done		probablydamaging	
OBSCN		inserm.fr	GRCh37	1	228466527	228466527	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000570156.2:c.8284C>T	p.Pro2762Ser	p.P2762S	ENST00000570156	NM_001271223.2	2762	Ccc/Tcc	0	not done		probablydamaging	
OBSCN		inserm.fr	GRCh37	1	228470815	228470815	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000570156.2:c.9854C>T	p.Pro3285Leu	p.P3285L	ENST00000570156	NM_001271223.2	3285	cCc/cTc	0	not done		possiblydamaging	
OBSCN		inserm.fr	GRCh37	1	228479755	228479755	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1743T																					ENST00000570156.2:c.11783A>T	p.Glu3928Val	p.E3928V	ENST00000570156	NM_001271223.2	3928	gAg/gTg	0	not done		benign	
OBSCN		inserm.fr	GRCh37	1	228495177	228495177	+	synonymous_variant	Silent	SNP	C	T	T			CHC1035T																					ENST00000570156.2:c.15282C>T	p.Gly5094=	p.G5094=	ENST00000570156	NM_001271223.2	5094	ggC/ggT	0	validated		synonymous	
OBSCN		inserm.fr	GRCh37	1	228509087	228509087	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000570156.2:c.17416C>T	p.Gln5806Ter	p.Q5806*	ENST00000570156	NM_001271223.2	5806	Cag/Tag	0	not done		damaging	
OBSCN		inserm.fr	GRCh37	1	228540663	228540663	+	synonymous_variant	Silent	SNP	G	T	T			CHC961T																					ENST00000570156.2:c.21432G>T	p.Arg7144=	p.R7144=	ENST00000570156	NM_001271223.2	7144	cgG/cgT	0	validated		synonymous	
SLC19A3		inserm.fr	GRCh37	2	228552950	228552950	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000258403.3:c.1246G>A	p.Val416Met	p.V416M	ENST00000258403	NM_025243.3	416	Gtg/Atg	0	not done		possiblydamaging	
OBSCN		inserm.fr	GRCh37	1	228554525	228554525	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000570156.2:c.22233C>T	p.Asp7411=	p.D7411=	ENST00000570156	NM_001271223.2	7411	gaC/gaT	0	not done		synonymous	
OBSCN		inserm.fr	GRCh37	1	228558902	228558902	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM543T																					ENST00000570156.2:c.23294C>T	p.Ser7765Leu	p.S7765L	ENST00000570156	NM_001271223.2	7765	tCa/tTa	0	validated		benign	
OBSCN		inserm.fr	GRCh37	1	228560211	228560211	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000570156.2:c.24603C>T	p.Ser8201=	p.S8201=	ENST00000570156	NM_001271223.2	8201	agC/agT	0	validated		synonymous	
OBSCN		inserm.fr	GRCh37	1	228563499	228563499	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000570156.2:c.25631C>T	p.Thr8544Ile	p.T8544I	ENST00000570156	NM_001271223.2	8544	aCc/aTc	0	not done		possiblydamaging	
TRIM11		inserm.fr	GRCh37	1	228588796	228588796	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1061T																					ENST00000284551.6:c.604G>A	p.Glu202Lys	p.E202K	ENST00000284551	NM_145214.2	202	Gag/Aag	0	validated		benign	
TRIM17		inserm.fr	GRCh37	1	228602509	228602509	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC801T																					ENST00000366697.2:c.265C>A	p.Gln89Lys	p.Q89K	ENST00000366697		89	Cag/Aag	0	not done		benign	
TRIM17		inserm.fr	GRCh37	1	228602539	228602539	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1137T																					ENST00000366697.2:c.235C>A	p.Leu79Met	p.L79M	ENST00000366697		79	Ctg/Atg	0	validated		probablydamaging	
HIST3H3		inserm.fr	GRCh37	1	228612985	228612985	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000366696.1:c.42C>A	p.Gly14=	p.G14=	ENST00000366696	NM_003493.2	14	ggC/ggA	0	validated		synonymous	
RHOBTB2		inserm.fr	GRCh37	8	22865139	22865139	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB151T																					ENST00000519685.1:c.1447C>T	p.Arg483Cys	p.R483C	ENST00000519685	NM_001160036.1	483	Cgc/Tgc	0	validated		probablydamaging	
CCL20		inserm.fr	GRCh37	2	228678675	228678675	+	synonymous_variant	Silent	SNP	G	T	T			CHC1207T																					ENST00000358813.4:c.48G>T	p.Leu16=	p.L16=	ENST00000358813		16	ctG/ctT	0	not done		synonymous	
ZNF280A		inserm.fr	GRCh37	22	22869222	22869222	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB307T																					ENST00000302097.3:c.733G>A	p.Ala245Thr	p.A245T	ENST00000302097	NM_080740.3	245	Gca/Aca	0	validated		benign	
SPHKAP		inserm.fr	GRCh37	2	228858291	228858291	+	synonymous_variant	Silent	SNP	C	T	T			CHC1055T																					ENST00000392056.3:c.4680G>A	p.Leu1560=	p.L1560=	ENST00000392056	NM_001142644.1	1560	ctG/ctA	0	validated		synonymous	
SPHKAP		inserm.fr	GRCh37	2	228881742	228881742	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000392056.3:c.3828G>A	p.Pro1276=	p.P1276=	ENST00000392056	NM_001142644.1	1276	ccG/ccA	0	not done		synonymous	
SPHKAP		inserm.fr	GRCh37	2	228882030	228882030	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1763T																					ENST00000392056.3:c.3540T>A	p.Cys1180Ter	p.C1180*	ENST00000392056	NM_001142644.1	1180	tgT/tgA	0	not done		damaging	
SPHKAP		inserm.fr	GRCh37	2	228882389	228882389	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000392056.3:c.3181G>A	p.Ala1061Thr	p.A1061T	ENST00000392056	NM_001142644.1	1061	Gcg/Acg	0	not done		benign	
SPHKAP		inserm.fr	GRCh37	2	228883147	228883147	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1600T																					ENST00000392056.3:c.2423C>A	p.Pro808His	p.P808H	ENST00000392056	NM_001142644.1	808	cCc/cAc	0	not done		probablydamaging	
SPHKAP		inserm.fr	GRCh37	2	228892205	228892205	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC361TA																					ENST00000392056.3:c.301C>A	p.Gln101Lys	p.Q101K	ENST00000392056	NM_001142644.1	101	Caa/Aaa	0	validated		benign	
PRAME		inserm.fr	GRCh37	22	22899239	22899239	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1754T																					ENST00000543184.1:c.14G>A	p.Arg5His	p.R5H	ENST00000543184	NM_206953.1	5	cGt/cAt	0	not done		benign	
LINGO3		inserm.fr	GRCh37	19	2290323	2290323	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1154T																					ENST00000585527.1:c.1453G>A	p.Ala485Thr	p.A485T	ENST00000585527		485	Gcg/Acg	0	not done		probablydamaging	
MNT		inserm.fr	GRCh37	17	2290539	2290539	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC322T																					ENST00000174618.4:c.1405C>A	p.His469Asn	p.H469N	ENST00000174618	NM_020310.2	469	Cac/Aac	0	validated		benign	
EPHA8		inserm.fr	GRCh37	1	22915509	22915509	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000166244.3:c.1125C>T	p.Arg375=	p.R375=	ENST00000166244	NM_020526.3	375	cgC/cgT	0	not done		synonymous	
EPHA8		inserm.fr	GRCh37	1	22915782	22915782	+	intron_variant	Intron	SNP	C	T	T			CHC1746T																					ENST00000166244.3:c.1315+83C>T		*439*	ENST00000166244	NM_020526.3			0	not done		synonymous	
CYFIP1		inserm.fr	GRCh37	15	22956281	22956281	+	intron_variant	Intron	SNP	G	T	T			BCM399T																					ENST00000313077.7:c.1675-157G>T		*559*	ENST00000313077	NM_014608.2			0	validated		synonymous	
ABCB10		inserm.fr	GRCh37	1	229665949	229665949	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC303T																					ENST00000344517.4:c.1642T>A	p.Ser548Thr	p.S548T	ENST00000344517	NM_012089.2	548	Tct/Act	0	validated		benign	
URB2		inserm.fr	GRCh37	1	229771844	229771844	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1035T																					ENST00000258243.2:c.1484C>T	p.Ser495Phe	p.S495F	ENST00000258243	NM_014777.2	495	tCc/tTc	0	validated		benign	
HYCC1		inserm.fr	GRCh37	7	22985290	22985290	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000432176.2:c.1484C>A	p.Ser495Ter	p.S495*	ENST00000432176	NM_032581.3	495	tCa/tAa	0	not done		damaging	
GGTLC2		inserm.fr	GRCh37	22	22989341	22989341	+	synonymous_variant	Silent	SNP	C	T	T			CHC322T																					ENST00000480559.1:c.294C>T	p.Phe98=	p.F98=	ENST00000480559	NM_199127.2	98	ttC/ttT	0	validated		synonymous	
TNFRSF10D		inserm.fr	GRCh37	8	22995768	22995768	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000312584.3:c.960G>A	p.Gln320=	p.Q320=	ENST00000312584	NM_003840.4	320	caG/caA	0	not done		synonymous	
NIPA2		inserm.fr	GRCh37	15	23006763	23006763	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM269T									Valid												ENST00000337451.3:c.541T>A	p.Tyr181Asn	p.Y181N	ENST00000337451	NM_030922.6	181	Tac/Aac	0	validated		probablydamaging	
SSTR4		inserm.fr	GRCh37	20	23016572	23016572	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000255008.3:c.452C>T	p.Pro151Leu	p.P151L	ENST00000255008	NM_001052.2	151	cCt/cTt	0	not done		probablydamaging	
DDX53		inserm.fr	GRCh37	X	23019477	23019477	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000327968.5:c.1303C>T	p.Leu435=	p.L435=	ENST00000327968	NM_182699.3	435	Cta/Tta	0	not done		synonymous	
DNER		inserm.fr	GRCh37	2	230253046	230253046	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T									Valid												ENST00000341772.4:c.1790T>A	p.Leu597Gln	p.L597Q	ENST00000341772	NM_139072.3	597	cTg/cAg	0	validated		probablydamaging	
DNER		inserm.fr	GRCh37	2	230271958	230271958	+	synonymous_variant	Silent	SNP	G	T	T			CHC1746T																					ENST00000341772.4:c.1713C>A	p.Pro571=	p.P571=	ENST00000341772	NM_139072.3	571	ccC/ccA	0	not done		synonymous	
THBD		inserm.fr	GRCh37	20	23028896	23028896	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC796T									Valid												ENST00000377103.2:c.1246G>A	p.Asp416Asn	p.D416N	ENST00000377103	NM_000361.2	416	Gac/Aac	0	validated		probablydamaging	
TNFRSF10A		inserm.fr	GRCh37	8	23058065	23058065	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM325T																					ENST00000221132.3:c.752C>A	p.Pro251Gln	p.P251Q	ENST00000221132	NM_003844.3	251	cCg/cAg	0	validated		benign	
TRIP12		inserm.fr	GRCh37	2	230642174	230642174	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2362T																					ENST00000283943.5:c.5161C>A	p.Pro1721Thr	p.P1721T	ENST00000283943	NM_004238.1	1721	Ccc/Acc	0	validated		benign	
CD93		inserm.fr	GRCh37	20	23065733	23065733	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1700T																					ENST00000246006.4:c.1097G>A	p.Arg366His	p.R366H	ENST00000246006	NM_012072.3	366	cGc/cAc	0	not done		benign	
CD93		inserm.fr	GRCh37	20	23066075	23066075	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1602T																					ENST00000246006.4:c.755G>A	p.Ser252Asn	p.S252N	ENST00000246006	NM_012072.3	252	aGc/aAc	0	not done		benign	
TRIP12		inserm.fr	GRCh37	2	230661353	230661353	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000283943.5:c.3545G>A	p.Arg1182Lys	p.R1182K	ENST00000283943	NM_004238.1	1182	aGa/aAa	0	not done		possiblydamaging	
TRIP12		inserm.fr	GRCh37	2	230663696	230663696	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC879T																					ENST00000283943.5:c.3152G>A	p.Gly1051Glu	p.G1051E	ENST00000283943	NM_004238.1	1051	gGa/gAa	0	not done		probablydamaging	
TRIP12		inserm.fr	GRCh37	2	230724000	230724000	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1137T																					ENST00000283943.5:c.389C>A	p.Thr130Lys	p.T130K	ENST00000283943	NM_004238.1	130	aCa/aAa	0	validated		probablydamaging	
COG2		inserm.fr	GRCh37	1	230798890	230798890	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1207T																					ENST00000366669.4:c.304C>T	p.Leu102Phe	p.L102F	ENST00000366669	NM_001145036.1	102	Ctt/Ttt	0	not done		probablydamaging	
FBXO36		inserm.fr	GRCh37	2	230875534	230875534	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000283946.3:c.501C>T	p.Leu167=	p.L167=	ENST00000283946	NM_174899.4	167	ctC/ctT	0	not done		synonymous	
SLC16A14		inserm.fr	GRCh37	2	230902191	230902191	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1743T																					ENST00000295190.4:c.1438C>A	p.Leu480Ile	p.L480I	ENST00000295190	NM_152527.4	480	Ctt/Att	0	not done		probablydamaging	
SLC16A14		inserm.fr	GRCh37	2	230911407	230911407	+	synonymous_variant	Silent	SNP	C	T	T			CHC1148T																					ENST00000295190.4:c.435G>A	p.Ala145=	p.A145=	ENST00000295190	NM_152527.4	145	gcG/gcA	0	not done		synonymous	
SNX8		inserm.fr	GRCh37	7	2309233	2309233	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000222990.3:c.582G>A	p.Gly194=	p.G194=	ENST00000222990	NM_013321.2	194	ggG/ggA	0	not done		synonymous	
TTC13		inserm.fr	GRCh37	1	231064777	231064777	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC805T																					ENST00000366661.4:c.1363G>A	p.Asp455Asn	p.D455N	ENST00000366661	NM_024525.4	455	Gat/Aat	0	not done		probablydamaging	
EPHB2		inserm.fr	GRCh37	1	23111260	23111260	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2200T																					ENST00000374632.3:c.502C>T	p.Pro168Ser	p.P168S	ENST00000374632		168	Cct/Tct	0	not done		probablydamaging	
EPHB2		inserm.fr	GRCh37	1	23111361	23111361	+	synonymous_variant	Silent	SNP	C	T	T			CHC433T																					ENST00000374632.3:c.603C>T	p.Ile201=	p.I201=	ENST00000374632		201	atC/atT	0	validated		synonymous	
SP140		inserm.fr	GRCh37	2	231135332	231135332	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2034T																					ENST00000392045.3:c.1476G>T	p.Leu492Phe	p.L492F	ENST00000392045	NM_007237.4	492	ttG/ttT	0	not done		probablydamaging	
TRIM67		inserm.fr	GRCh37	1	231299294	231299294	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000366653.5:c.579C>T	p.Arg193=	p.R193=	ENST00000366653		193	cgC/cgT	0	not done		synonymous	
EXOC8		inserm.fr	GRCh37	1	231473409	231473409	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC121T									Valid												ENST00000360394.2:c.83T>A	p.Val28Glu	p.V28E	ENST00000360394	NM_175876.3	28	gTg/gAg	0	validated		probablydamaging	
ZNF728		inserm.fr	GRCh37	19	23159270	23159270	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000594710.1:c.869G>A	p.Gly290Asp	p.G290D	ENST00000594710	NM_001267716.1	290	gGc/gAc	0	not done			
ITM2C		inserm.fr	GRCh37	2	231742751	231742751	+	synonymous_variant	Silent	SNP	C	T	T			CHC1731T																					ENST00000326427.6:c.741C>T	p.Cys247=	p.C247=	ENST00000326427	NM_030926.4	247	tgC/tgT	0	not done		synonymous	
GPR55		inserm.fr	GRCh37	2	231775174	231775174	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC465T									Valid												ENST00000392040.1:c.504C>A	p.Cys168Ter	p.C168*	ENST00000392040	NM_005683.3	168	tgC/tgA	0	validated		damaging	
DISC1		inserm.fr	GRCh37	1	231837708	231837708	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1739T																					ENST00000366633.3:c.1055C>T	p.Ser352Phe	p.S352F	ENST00000366633	NM_001164539.1	352	tCc/tTc	0	not done		probablydamaging	
HTR2B		inserm.fr	GRCh37	2	231978620	231978620	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM399T																					ENST00000258400.3:c.376G>A	p.Val126Ile	p.V126I	ENST00000258400	NM_000867.4	126	Gtt/Att	0	validated		benign	
SCNN1G		inserm.fr	GRCh37	16	23200784	23200784	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2215T																					ENST00000300061.2:c.410G>T	p.Arg137Leu	p.R137L	ENST00000300061	NM_001039.3	137	cGc/cTc	0	not done		possiblydamaging	
ARMC9		inserm.fr	GRCh37	2	232070954	232070954	+	start_lost	Translation_Start_Site	SNP	G	T	T			CHC1603T																					ENST00000349938.4:c.3G>T	p.Met1?	p.M1?	ENST00000349938	NM_025139.4	1	atG/atT	0	not done		probablydamaging	
IGLV4-3		inserm.fr	GRCh37	22	23213747	23213747	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000390318.2:c.30C>T	p.Pro10=	p.P10=	ENST00000390318		10	ccC/ccT	0	not done		synonymous	
MORN1		inserm.fr	GRCh37	1	2321390	2321390	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC121T									Valid												ENST00000378531.3:c.122G>A	p.Gly41Glu	p.G41E	ENST00000378531	NM_024848.1	41	gGa/gAa	0	validated		probablydamaging	
B3GNT7		inserm.fr	GRCh37	2	232263303	232263303	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC433T																					ENST00000287590.5:c.873G>T	p.Lys291Asn	p.K291N	ENST00000287590	NM_145236.2	291	aaG/aaT	0	validated		probablydamaging	
B3GNT7		inserm.fr	GRCh37	2	232263350	232263350	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1600T																					ENST00000287590.5:c.920G>T	p.Gly307Val	p.G307V	ENST00000287590	NM_145236.2	307	gGc/gTc	0	not done		probablydamaging	
NCL		inserm.fr	GRCh37	2	232325423	232325423	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1754T																					ENST00000322723.4:c.768T>A	p.Asp256Glu	p.D256E	ENST00000322723	NM_005381.2	256	gaT/gaA	0	not done		benign	
EPHB2		inserm.fr	GRCh37	1	23232542	23232542	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2052T																					ENST00000374632.3:c.1831C>T	p.Arg611Trp	p.R611W	ENST00000374632		611	Cgg/Tgg	0	not done		probablydamaging	
IGLL5		inserm.fr	GRCh37	22	23237595	23237595	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000390321.2:c.41C>T	p.Pro14=	p.P14=	ENST00000390321		14	ccC/ccT	0	not done		synonymous	
C2orf57		inserm.fr	GRCh37	2	232458408	232458408	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000313965.2:c.746C>T	p.Pro249Leu	p.P249L	ENST00000313965	NM_152614.2	249	cCc/cTc	0	not done		benign	
SIPA1L2		inserm.fr	GRCh37	1	232538187	232538187	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1712T																					ENST00000366630.1:c.4973T>A	p.Val1658Asp	p.V1658D	ENST00000366630		1658	gTc/gAc	0	not done		probablydamaging	
SIPA1L2		inserm.fr	GRCh37	1	232575201	232575201	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000366630.1:c.3684G>A	p.Thr1228=	p.T1228=	ENST00000366630		1228	acG/acA	0	validated		synonymous	
SIPA1L2		inserm.fr	GRCh37	1	232596863	232596863	+	synonymous_variant	Silent	SNP	C	T	T			CHC1539T																					ENST00000366630.1:c.2865G>A	p.Arg955=	p.R955=	ENST00000366630		955	agG/agA	0	not done		synonymous	
SIPA1L2		inserm.fr	GRCh37	1	232615429	232615429	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1183T																					ENST00000366630.1:c.2029G>A	p.Glu677Lys	p.E677K	ENST00000366630		677	Gaa/Aaa	0	not done		probablydamaging	
SIPA1L2		inserm.fr	GRCh37	1	232629348	232629348	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000366630.1:c.1542G>A	p.Arg514=	p.R514=	ENST00000366630		514	cgG/cgA	0	not done		synonymous	
ARMC3		inserm.fr	GRCh37	10	23270525	23270525	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	T	T			CHC1731T																					ENST00000298032.5:c.1071G>T	p.Gly357=	p.G357=	ENST00000298032	NM_173081.3	357	ggG/ggT	0	not done		possiblydamaging	
MAP10		inserm.fr	GRCh37	1	232943210	232943210	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM371T																					ENST00000418460.1:c.2441C>T	p.Thr814Ile	p.T814I	ENST00000418460	NM_019090.2	814	aCa/aTa	0	validated		benign	
GPNMB		inserm.fr	GRCh37	7	23300206	23300206	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC923T																					ENST00000381990.2:c.832A>T	p.Thr278Ser	p.T278S	ENST00000381990	NM_002510.2	278	Acc/Tcc	0	not done		benign	
ENTPD4		inserm.fr	GRCh37	8	23305242	23305242	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000358689.4:c.363G>A	p.Arg121=	p.R121=	ENST00000358689	NM_001128930.2	121	agG/agA	0	not done		synonymous	
DIS3L2		inserm.fr	GRCh37	2	233198653	233198653	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1534T																					ENST00000325385.7:c.2114G>T	p.Arg705Leu	p.R705L	ENST00000325385	NM_152383.4	705	cGc/cTc	0	validated		probablydamaging	
ALPPL2		inserm.fr	GRCh37	2	233271852	233271852	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000295453.3:c.153C>T	p.Ala51=	p.A51=	ENST00000295453	NM_031313.2	51	gcC/gcT	0	not done		synonymous	
PRSS56		inserm.fr	GRCh37	2	233386544	233386544	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000449534.2:c.224C>T	p.Pro75Leu	p.P75L	ENST00000449534	NM_001195129.1	75	cCt/cTt	0	not done			
PRSS56		inserm.fr	GRCh37	2	233388555	233388555	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000449534.2:c.1089C>T	p.Ala363=	p.A363=	ENST00000449534	NM_001195129.1	363	gcC/gcT	0	not done		synonymous	
CHRND		inserm.fr	GRCh37	2	233391274	233391274	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1744T																					ENST00000258385.3:c.88C>T	p.Arg30Trp	p.R30W	ENST00000258385	NM_000751.2	30	Cgg/Tgg	0	not done		probablydamaging	
GZF1		inserm.fr	GRCh37	20	23345946	23345946	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM723T																					ENST00000338121.5:c.926A>T	p.Glu309Val	p.E309V	ENST00000338121		309	gAa/gTa	0	validated		benign	
KDM1A		inserm.fr	GRCh37	1	23346329	23346329	+	synonymous_variant	Silent	SNP	C	T	T			CHC313T																					ENST00000400181.4:c.240C>T	p.Ser80=	p.S80=	ENST00000400181	NM_001009999.2	80	tcC/tcT	0	validated		synonymous	
PTCHD1		inserm.fr	GRCh37	X	23353271	23353271	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000379361.4:c.279C>T	p.Tyr93=	p.Y93=	ENST00000379361	NM_173495.2	93	taC/taT	0	validated		synonymous	
EFHD1		inserm.fr	GRCh37	2	233537091	233537091	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000264059.3:c.523C>T	p.Leu175Phe	p.L175F	ENST00000264059	NM_025202.3	175	Ctt/Ttt	0	not done		possiblydamaging	
RBM23		inserm.fr	GRCh37	14	23371559	23371559	+	synonymous_variant	Silent	SNP	C	T	T			BCM337T																					ENST00000359890.3:c.963G>A	p.Leu321=	p.L321=	ENST00000359890	NM_001077351.1	321	ctG/ctA	0	validated		synonymous	
TSPAN32		inserm.fr	GRCh37	11	2337527	2337527	+	synonymous_variant	Silent	SNP	C	T	T			BCM695T																					ENST00000182290.4:c.612C>T	p.Ile204=	p.I204=	ENST00000182290	NM_139022.2	204	atC/atT	0	validated		synonymous	
RBM23		inserm.fr	GRCh37	14	23375456	23375456	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000359890.3:c.349G>A	p.Asp117Asn	p.D117N	ENST00000359890	NM_001077351.1	117	Gac/Aac	0	not done		benign	
RBM23		inserm.fr	GRCh37	14	23375561	23375561	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1534T																					ENST00000359890.3:c.244G>A	p.Asp82Asn	p.D82N	ENST00000359890	NM_001077351.1	82	Gat/Aat	0	validated		probablydamaging	
SCNN1B		inserm.fr	GRCh37	16	23388701	23388701	+	synonymous_variant	Silent	SNP	C	T	T			CHC429T																					ENST00000343070.2:c.1398C>T	p.Ala466=	p.A466=	ENST00000343070	NM_000336.2	466	gcC/gcT	0	validated		synonymous	
NEU2		inserm.fr	GRCh37	2	233897431	233897431	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000233840.3:c.50C>T	p.Ala17Val	p.A17V	ENST00000233840	NM_005383.2	17	gCc/gTc	0	not done		benign	
SCNN1B		inserm.fr	GRCh37	16	23391862	23391862	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000343070.2:c.1663C>T	p.Leu555=	p.L555=	ENST00000343070	NM_000336.2	555	Ctg/Ttg	0	not done		synonymous	
SCNN1B		inserm.fr	GRCh37	16	23391913	23391913	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC469T																					ENST00000343070.2:c.1714G>T	p.Ala572Ser	p.A572S	ENST00000343070	NM_000336.2	572	Gct/Tct	0	validated		benign	
ABCA3		inserm.fr	GRCh37	16	2339513	2339513	+	synonymous_variant	Silent	SNP	G	T	T			CHC1041T																					ENST00000301732.5:c.2622C>A	p.Leu874=	p.L874=	ENST00000301732	NM_001089.2	874	ctC/ctA	0	validated		synonymous	
SPPL2B		inserm.fr	GRCh37	19	2340151	2340151	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	G	T	T			CHC2321T																					ENST00000452401.2:n.899G>T		p.X300_splice	ENST00000452401				0	validated		synonymous	
LUZP1		inserm.fr	GRCh37	1	23420155	23420155	+	synonymous_variant	Silent	SNP	C	T	T			CHC469T																					ENST00000302291.4:c.600G>A	p.Leu200=	p.L200=	ENST00000302291		200	ttG/ttA	0	validated		synonymous	
SAG		inserm.fr	GRCh37	2	234229317	234229317	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM375T									Valid												ENST00000409110.1:c.223G>T	p.Asp75Tyr	p.D75Y	ENST00000409110	NM_000541.4	75	Gac/Tac	0	validated		probablydamaging	
COG7		inserm.fr	GRCh37	16	23424788	23424788	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000307149.5:c.1390G>A	p.Ala464Thr	p.A464T	ENST00000307149	NM_153603.3	464	Gct/Act	0	not done		possiblydamaging	
DGKD		inserm.fr	GRCh37	2	234358007	234358007	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC879T																					ENST00000264057.2:c.1873G>T	p.Glu625Ter	p.E625*	ENST00000264057	NM_152879.2	625	Gaa/Taa	0	not done		damaging	
USP40		inserm.fr	GRCh37	2	234460022	234460022	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC1534T																					ENST00000450966.1:c.873G>A	p.Gln291=	p.Q291=	ENST00000450966	NM_018218.2	291	caG/caA	0	validated		damaging	
TARBP1		inserm.fr	GRCh37	1	234569244	234569244	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000040877.1:c.2306G>A	p.Gly769Glu	p.G769E	ENST00000040877	NM_005646.3	769	gGg/gAg	0	not done		probablydamaging	
UGT1A7		inserm.fr	GRCh37	2	234591378	234591378	+	synonymous_variant	Silent	SNP	G	T	T			CHC1754T																					ENST00000373426.3:c.795G>T	p.Val265=	p.V265=	ENST00000373426	NM_019077.2	265	gtG/gtT	0	not done		synonymous	
HEATR7B18		inserm.fr	GRCh37	2	234713682	234713682	+	synonymous_variant	Silent	SNP	G	T	T			CHC1774T																					ENST00000389758.3:c.1977G>T	p.Gly659=	p.G659=	ENST00000389758		659	ggG/ggT	0	validated		synonymous	
IRF2BP2		inserm.fr	GRCh37	1	234744525	234744525	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2202T																					ENST00000366609.3:c.716C>A	p.Ala239Glu	p.A239E	ENST00000366609	NM_182972.2	239	gCa/gAa	0	validated		possiblydamaging	
HJURP		inserm.fr	GRCh37	2	234749457	234749457	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2200T																					ENST00000411486.2:c.1969G>A	p.Glu657Lys	p.E657K	ENST00000411486	NM_018410.3	657	Gag/Aag	0	not done		possiblydamaging	
ABCA3		inserm.fr	GRCh37	16	2347512	2347512	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000301732.5:c.2081G>A	p.Gly694Asp	p.G694D	ENST00000301732	NM_001089.2	694	gGc/gAc	0	not done		probablydamaging	
RTDR1		inserm.fr	GRCh37	22	23481122	23481122	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000216036.4:c.207G>A	p.Met69Ile	p.M69I	ENST00000216036	NM_014433.2	69	atG/atA	0	not done		benign	
TRPM8		inserm.fr	GRCh37	2	234858740	234858740	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000324695.4:c.1090C>T	p.Arg364Cys	p.R364C	ENST00000324695	NM_024080.4	364	Cgc/Tgc	0	not done		probablydamaging	
RAB36		inserm.fr	GRCh37	22	23487705	23487705	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000263116.2:c.153C>T	p.Gly51=	p.G51=	ENST00000263116	NM_004914.2	51	ggC/ggT	0	not done		synonymous	
PSMB5		inserm.fr	GRCh37	14	23495443	23495443	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1616T																					ENST00000361611.6:c.647G>A	p.Arg216His	p.R216H	ENST00000361611	NM_002797.3	216	cGt/cAt	0	not done		probablydamaging	
RAB36		inserm.fr	GRCh37	22	23500214	23500214	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1568T																					ENST00000263116.2:c.628A>T	p.Thr210Ser	p.T210S	ENST00000263116	NM_004914.2	210	Acc/Tcc	0	not done		benign	
PSMB11		inserm.fr	GRCh37	14	23512195	23512195	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1568T																					ENST00000408907.2:c.761C>T	p.Pro254Leu	p.P254L	ENST00000408907	NM_001099780.1	254	cCg/cTg	0	not done		benign	
BCR		inserm.fr	GRCh37	22	23524119	23524119	+	synonymous_variant	Silent	SNP	C	T	T			CHC429T																					ENST00000305877.8:c.972C>T	p.Cys324=	p.C324=	ENST00000305877	NM_004327.3	324	tgC/tgT	0	validated		synonymous	
PRDM9		inserm.fr	GRCh37	5	23526363	23526363	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000296682.3:c.1166C>T	p.Pro389Leu	p.P389L	ENST00000296682	NM_020227.2	389	cCa/cTa	0	not done		possiblydamaging	
CST9LP1		inserm.fr	GRCh37	20	23528465	23528465	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC2128T																					ENST00000376987.1:n.380G>A		*127*	ENST00000376987				0	not done			
RBM34		inserm.fr	GRCh37	1	235301250	235301250	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000408888.3:c.791G>A	p.Gly264Glu	p.G264E	ENST00000408888		264	gGg/gAg	0	not done		probablydamaging	
CST9LP1		inserm.fr	GRCh37	20	23531245	23531245	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC892T																					ENST00000376987.1:n.45G>A		*15*	ENST00000376987				0	not done		synonymous	
RBM34		inserm.fr	GRCh37	1	235318378	235318378	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2321T																					ENST00000408888.3:c.415C>A	p.Gln139Lys	p.Q139K	ENST00000408888		139	Caa/Aaa	0	validated		benign	
ACIN1		inserm.fr	GRCh37	14	23548869	23548869	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000262710.1:c.1849G>A	p.Ala617Thr	p.A617T	ENST00000262710	NM_001164814.1	617	Gca/Aca	0	not done		benign	
ACIN1		inserm.fr	GRCh37	14	23550001	23550001	+	synonymous_variant	Silent	SNP	C	T	T			BCM695T																					ENST00000262710.1:c.717G>A	p.Leu239=	p.L239=	ENST00000262710	NM_001164814.1	239	ctG/ctA	0	validated		synonymous	
GGPS1		inserm.fr	GRCh37	1	235505516	235505516	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000282841.5:c.332C>T	p.Ala111Val	p.A111V	ENST00000282841		111	gCa/gTa	0	not done		probablydamaging	
NKX2-6		inserm.fr	GRCh37	8	23560271	23560271	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000325017.3:c.599G>A	p.Gly200Asp	p.G200D	ENST00000325017	NM_001136271.2	200	gGc/gAc	0	not done		probablydamaging	
LYST		inserm.fr	GRCh37	1	235872446	235872446	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000389794.3:c.10088G>A	p.Gly3363Glu	p.G3363E	ENST00000389794		3363	gGg/gAg	0	not done		probablydamaging	
SH3BP4		inserm.fr	GRCh37	2	235950553	235950553	+	synonymous_variant	Silent	SNP	C	T	T			CHC736T																					ENST00000409212.1:c.1140C>T	p.Val380=	p.V380=	ENST00000409212		380	gtC/gtT	0	validated		synonymous	
CST3		inserm.fr	GRCh37	20	23618287	23618287	+	synonymous_variant	Silent	SNP	G	T	T			CHC1763T																					ENST00000398411.1:c.213C>A	p.Arg71=	p.R71=	ENST00000398411	NM_001288614.1	71	cgC/cgA	0	validated		synonymous	
SS18		inserm.fr	GRCh37	18	23619371	23619371	+	synonymous_variant	Silent	SNP	C	T	T			CHC2103T																					ENST00000415083.2:c.657G>A	p.Gln219=	p.Q219=	ENST00000415083	NM_001007559.1	219	caG/caA	0	not done		synonymous	
NID1		inserm.fr	GRCh37	1	236195776	236195776	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1044T																					ENST00000264187.6:c.1462G>A	p.Ala488Thr	p.A488T	ENST00000264187	NM_002508.2	488	Gcc/Acc	0	not done		probablydamaging	
NID1		inserm.fr	GRCh37	1	236205489	236205489	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM739T																					ENST00000264187.6:c.856G>A	p.Gly286Arg	p.G286R	ENST00000264187	NM_002508.2	286	Ggg/Agg	0	validated		benign	
PALB2		inserm.fr	GRCh37	16	23635371	23635371	+	synonymous_variant	Silent	SNP	G	T	T			CHC121T																					ENST00000261584.4:c.2793C>A	p.Leu931=	p.L931=	ENST00000261584	NM_024675.3	931	ctC/ctA	0	validated		synonymous	
CST4		inserm.fr	GRCh37	20	23667794	23667794	+	synonymous_variant	Silent	SNP	G	T	T			CHC917T																					ENST00000217423.3:c.273C>A	p.Arg91=	p.R91=	ENST00000217423	NM_001899.2	91	cgC/cgA	0	validated		synonymous	
HEATR1		inserm.fr	GRCh37	1	236754228	236754228	+	synonymous_variant	Silent	SNP	C	T	T			CHC2099T																					ENST00000366582.3:c.1449G>A	p.Leu483=	p.L483=	ENST00000366582	NM_018072.5	483	ttG/ttA	0	not done		synonymous	
ZNF436		inserm.fr	GRCh37	1	23689066	23689066	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000314011.4:c.809G>A	p.Arg270Lys	p.R270K	ENST00000314011	NM_001077195.1	270	aGg/aAg	0	not done		benign	
ACTN2		inserm.fr	GRCh37	1	236912525	236912525	+	synonymous_variant	Silent	SNP	G	T	T			BCM439T																					ENST00000366578.4:c.1617G>T	p.Leu539=	p.L539=	ENST00000366578	NM_001278344.1	539	ctG/ctT	0	validated		synonymous	
ZNF436		inserm.fr	GRCh37	1	23693576	23693576	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000314011.4:c.119G>A	p.Arg40Gln	p.R40Q	ENST00000314011	NM_001077195.1	40	cGg/cAg	0	not done		probablydamaging	
PRDX4		inserm.fr	GRCh37	X	23697281	23697281	+	splice_acceptor_variant	Splice_Site	SNP	G	T	T			BCM723T																					ENST00000379341.4:c.477-1G>T		p.X159_splice	ENST00000379341	NM_006406.1			0	validated		damaging	
PLK1		inserm.fr	GRCh37	16	23701288	23701288	+	synonymous_variant	Silent	SNP	C	T	T			CHC798T																					ENST00000300093.4:c.1716C>T	p.Cys572=	p.C572=	ENST00000300093	NM_005030.3	572	tgC/tgT	0	validated		synonymous	
GBX2		inserm.fr	GRCh37	2	237076320	237076320	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000306318.4:c.295G>A	p.Ala99Thr	p.A99T	ENST00000306318	NM_001485.2	99	Gcg/Acg	0	not done		benign	
STC1		inserm.fr	GRCh37	8	23708864	23708864	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1600T																					ENST00000290271.2:c.442G>A	p.Val148Ile	p.V148I	ENST00000290271	NM_003155.2	148	Gtc/Atc	0	not done		probablydamaging	
ERN2		inserm.fr	GRCh37	16	23718108	23718108	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1035T																					ENST00000256797.4:c.598C>A	p.Pro200Thr	p.P200T	ENST00000256797	NM_033266.3	200	Ccc/Acc	0	validated		probablydamaging	
IQCA1		inserm.fr	GRCh37	2	237240158	237240158	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1753T																					ENST00000409907.3:c.2217C>A	p.Asp739Glu	p.D739E	ENST00000409907	NM_024726.4	739	gaC/gaA	0	not done		probablydamaging	
CST1		inserm.fr	GRCh37	20	23728487	23728487	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000304749.2:c.392G>A	p.Arg131Lys	p.R131K	ENST00000304749	NM_001898.2	131	aGg/aAg	0	not done		benign	
ACOT9		inserm.fr	GRCh37	X	23731253	23731253	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000379303.5:c.661G>A	p.Gly221Arg	p.G221R	ENST00000379303	NM_001037171.1	221	Ggg/Agg	0	not done		benign	
CXCR7		inserm.fr	GRCh37	2	237489827	237489827	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1531T																					ENST00000272928.3:c.719C>T	p.Ser240Leu	p.S240L	ENST00000272928	NM_020311.2	240	tCg/tTg	0	not done		benign	
PSMA8		inserm.fr	GRCh37	18	23758853	23758853	+	synonymous_variant	Silent	SNP	A	T	T			CHC1708T																					ENST00000308268.6:c.555A>T	p.Thr185=	p.T185=	ENST00000308268	NM_144662.2	185	acA/acT	0	not done		synonymous	
ASAP3		inserm.fr	GRCh37	1	23763132	23763132	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000336689.3:c.1492G>A	p.Gly498Arg	p.G498R	ENST00000336689	NM_017707.3	498	Gga/Aga	0	not done		probablydamaging	
RYR2		inserm.fr	GRCh37	1	237664166	237664166	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000366574.2:c.2359C>T	p.Leu787Phe	p.L787F	ENST00000366574	NM_001035.2	787	Ctc/Ttc	0	not done		possiblydamaging	
RYR2		inserm.fr	GRCh37	1	237711847	237711847	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC917T																					ENST00000366574.2:c.3023C>T	p.Ala1008Val	p.A1008V	ENST00000366574	NM_001035.2	1008	gCg/gTg	0	validated		probablydamaging	
RYR2		inserm.fr	GRCh37	1	237796902	237796902	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000366574.2:c.6580G>T	p.Ala2194Ser	p.A2194S	ENST00000366574	NM_001035.2	2194	Gcc/Tcc	0	not done		probablydamaging	
RYR2		inserm.fr	GRCh37	1	237801705	237801705	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM739T																					ENST00000366574.2:c.6841G>T	p.Val2281Leu	p.V2281L	ENST00000366574	NM_001035.2	2281	Gtg/Ttg	0	validated		benign	
RYR2		inserm.fr	GRCh37	1	237863752	237863752	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1205T																					ENST00000366574.2:c.9352G>T	p.Gly3118Ter	p.G3118*	ENST00000366574	NM_001035.2	3118	Gga/Tga	0	not done		damaging	
RYR2		inserm.fr	GRCh37	1	237872367	237872367	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000366574.2:c.10111C>T	p.Pro3371Ser	p.P3371S	ENST00000366574	NM_001035.2	3371	Cct/Tct	0	not done		probablydamaging	
RYR2		inserm.fr	GRCh37	1	237936853	237936853	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1035T									Valid												ENST00000366574.2:c.11680G>T	p.Gly3894Trp	p.G3894W	ENST00000366574	NM_001035.2	3894	Ggg/Tgg	0	validated		probablydamaging	
COPS8		inserm.fr	GRCh37	2	238002748	238002748	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2202T																					ENST00000354371.2:c.347G>T	p.Arg116Leu	p.R116L	ENST00000354371	NM_006710.4	116	cGc/cTc	0	validated		possiblydamaging	
ZP4		inserm.fr	GRCh37	1	238048803	238048803	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1747T																					ENST00000366570.4:c.1048G>A	p.Val350Ile	p.V350I	ENST00000366570	NM_021186.3	350	Gtc/Atc	0	not done		probablydamaging	
ZP4		inserm.fr	GRCh37	1	238049077	238049077	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T									Valid												ENST00000366570.4:c.949C>A	p.Leu317Met	p.L317M	ENST00000366570	NM_021186.3	317	Ctg/Atg	0	validated		probablydamaging	
TAF4B		inserm.fr	GRCh37	18	23807132	23807132	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000269142.5:c.235C>T	p.Pro79Ser	p.P79S	ENST00000269142	NM_005640.1	79	Cct/Tct	0	not done		benign	
MKRN3		inserm.fr	GRCh37	15	23812387	23812387	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000314520.3:c.1458C>T	p.Pro486=	p.P486=	ENST00000314520	NM_005664.3	486	ccC/ccT	0	not done		synonymous	
SLC22A17		inserm.fr	GRCh37	14	23816117	23816117	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1746T																					ENST00000397267.1:c.1357C>A	p.Leu453Ile	p.L453I	ENST00000397267		453	Cta/Ata	0	validated		probablydamaging	
SLC22A17		inserm.fr	GRCh37	14	23821386	23821386	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2215T																					ENST00000397267.1:c.38T>A	p.Leu13Gln	p.L13Q	ENST00000397267		13	cTg/cAg	0	not done		possiblydamaging	
COL6A3		inserm.fr	GRCh37	2	238249140	238249140	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000295550.4:c.8419G>A	p.Glu2807Lys	p.E2807K	ENST00000295550	NM_004369.3	2807	Gag/Aag	0	not done		probablydamaging	
EFS		inserm.fr	GRCh37	14	23826587	23826587	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000216733.3:c.1534G>A	p.Gly512Ser	p.G512S	ENST00000216733	NM_005864.3	512	Ggc/Agc	0	not done		possiblydamaging	
COL6A3		inserm.fr	GRCh37	2	238266505	238266505	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC433T									Valid												ENST00000295550.4:c.6492C>A	p.Ser2164Arg	p.S2164R	ENST00000295550	NM_004369.3	2164	agC/agA	0	validated		benign	
COL6A3		inserm.fr	GRCh37	2	238280668	238280668	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC433T																					ENST00000295550.4:c.3992G>A	p.Arg1331His	p.R1331H	ENST00000295550	NM_004369.3	1331	cGc/cAc	0	validated		probablydamaging	
E2F2		inserm.fr	GRCh37	1	23836461	23836461	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000361729.2:c.1225C>A	p.Gln409Lys	p.Q409K	ENST00000361729	NM_004091.3	409	Cag/Aag	0	not done		possiblydamaging	
MYH6		inserm.fr	GRCh37	14	23853663	23853663	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000405093.3:c.5553G>A	p.Glu1851=	p.E1851=	ENST00000405093	NM_002471.3	1851	gaG/gaA	0	not done		synonymous	
MYH6		inserm.fr	GRCh37	14	23855743	23855743	+	synonymous_variant	Silent	SNP	C	T	T			BCM695T																					ENST00000405093.3:c.4740G>A	p.Glu1580=	p.E1580=	ENST00000405093	NM_002471.3	1580	gaG/gaA	0	validated		synonymous	
LRRFIP1		inserm.fr	GRCh37	2	238643969	238643969	+	intron_variant	Intron	SNP	C	T	T			CHC1534T																					ENST00000392000.4:c.250-13038C>T		*84*	ENST00000392000	NM_001137552.1			0	validated			
MYH6		inserm.fr	GRCh37	14	23868009	23868009	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000405093.3:c.1819G>A	p.Val607Met	p.V607M	ENST00000405093	NM_002471.3	607	Gtg/Atg	0	not done		probablydamaging	
RBM44		inserm.fr	GRCh37	2	238726261	238726261	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC451T																					ENST00000316997.4:c.702A>T	p.Glu234Asp	p.E234D	ENST00000316997	NM_001080504.2	234	gaA/gaT	0	validated		probablydamaging	
MYH6		inserm.fr	GRCh37	14	23876236	23876236	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000405093.3:c.197G>A	p.Gly66Glu	p.G66E	ENST00000405093	NM_002471.3	66	gGg/gAg	0	not done		possiblydamaging	
MAGEL2		inserm.fr	GRCh37	15	23889299	23889299	+	synonymous_variant	Silent	SNP	G	T	T			CHC218T																					ENST00000532292.1:c.1782C>A	p.Val594=	p.V594=	ENST00000532292	NM_019066.4	594	gtC/gtA	0	not done		synonymous	
MAGEL2		inserm.fr	GRCh37	15	23889637	23889637	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM397T																					ENST00000532292.1:c.1444C>A	p.His482Asn	p.H482N	ENST00000532292	NM_019066.4	482	Cac/Aac	0	validated		benign	
MAGEL2		inserm.fr	GRCh37	15	23890048	23890048	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000532292.1:c.1033G>A	p.Gly345Ser	p.G345S	ENST00000532292	NM_019066.4	345	Ggc/Agc	0	not done		probablydamaging	
MAGEL2		inserm.fr	GRCh37	15	23890072	23890072	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1531T																					ENST00000532292.1:c.1009C>A	p.Pro337Thr	p.P337T	ENST00000532292	NM_019066.4	337	Ccc/Acc	0	not done		benign	
MYH7		inserm.fr	GRCh37	14	23891399	23891399	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000355349.3:c.3235C>A	p.Arg1079=	p.R1079=	ENST00000355349	NM_000257.2	1079	Cgg/Agg	0	not done		synonymous	
TMPRSS9		inserm.fr	GRCh37	19	2389828	2389828	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000332578.3:c.45C>T	p.Thr15=	p.T15=	ENST00000332578	NM_182973.1	15	acC/acT	0	not done		synonymous	
SCLY		inserm.fr	GRCh37	2	238990431	238990431	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000254663.6:c.590G>T	p.Arg197Leu	p.R197L	ENST00000254663	NM_016510.5	197	cGc/cTc	0	not done		benign	
MYH7		inserm.fr	GRCh37	14	23899791	23899791	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T																					ENST00000355349.3:c.977C>A	p.Ala326Asp	p.A326D	ENST00000355349	NM_000257.2	326	gCt/gAt	0	validated		benign	
MYH7		inserm.fr	GRCh37	14	23900841	23900841	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000355349.3:c.685G>A	p.Ala229Thr	p.A229T	ENST00000355349	NM_000257.2	229	Gcc/Acc	0	not done		possiblydamaging	
ESPNL		inserm.fr	GRCh37	2	239009337	239009337	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2200T																					ENST00000343063.3:c.277G>T	p.Gly93Trp	p.G93W	ENST00000343063	NM_194312.2	93	Ggg/Tgg	0	validated		probablydamaging	
MYH7		inserm.fr	GRCh37	14	23902818	23902818	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1137T																					ENST00000355349.3:c.124G>A	p.Asp42Asn	p.D42N	ENST00000355349	NM_000257.2	42	Gac/Aac	0	not done		benign	
KLHL30		inserm.fr	GRCh37	2	239049494	239049494	+	synonymous_variant	Silent	SNP	C	T	T			BCB307T																					ENST00000409223.1:c.99C>T	p.Ala33=	p.A33=	ENST00000409223		33	gcC/gcT	0	validated		synonymous	
SACS		inserm.fr	GRCh37	13	23906155	23906155	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2110Tbis																					ENST00000382298.3:c.11860G>A	p.Asp3954Asn	p.D3954N	ENST00000382298	NM_014363.5	3954	Gac/Aac	0	not done		probablydamaging	
ILKAP		inserm.fr	GRCh37	2	239076038	239076038	+	downstream_gene_variant	3'Flank	SNP	C	T	T			CHC892T																								ENST00000254654	NM_030768.2			0	not done			
SOX5		inserm.fr	GRCh37	12	23908644	23908644	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1137T																					ENST00000451604.2:c.496G>A	p.Glu166Lys	p.E166K	ENST00000451604		166	Gaa/Aaa	0	not done		probablydamaging	
SACS		inserm.fr	GRCh37	13	23912040	23912040	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC902T																					ENST00000382298.3:c.5975G>A	p.Arg1992Lys	p.R1992K	ENST00000382298	NM_014363.5	1992	aGa/aAa	0	not done		probablydamaging	
HES6		inserm.fr	GRCh37	2	239147651	239147651	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000272937.5:c.492G>A	p.Gly164=	p.G164=	ENST00000272937		164	ggG/ggA	0	not done		synonymous	
IGLL1		inserm.fr	GRCh37	22	23915648	23915648	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000330377.2:c.447G>A	p.Trp149Ter	p.W149*	ENST00000330377	NM_020070.3	149	tgG/tgA	0	not done		damaging	
ZNF681		inserm.fr	GRCh37	19	23927517	23927517	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000402377.3:c.835G>A	p.Glu279Lys	p.E279K	ENST00000402377	NM_138286.2	279	Gag/Aag	0	not done		possiblydamaging	
SACS		inserm.fr	GRCh37	13	23929960	23929960	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000382298.3:c.791G>A	p.Gly264Asp	p.G264D	ENST00000382298	NM_014363.5	264	gGc/gAc	0	not done		benign	
LUC7L		inserm.fr	GRCh37	16	239330	239330	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2352T																					ENST00000293872.8:c.983G>A	p.Arg328Lys	p.R328K	ENST00000293872	NM_201412.1	328	aGa/aAa	0	not done		possiblydamaging	
GGTLC1		inserm.fr	GRCh37	20	23966832	23966832	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1594T																					ENST00000335694.4:c.185C>A	p.Ser62Tyr	p.S62Y	ENST00000335694	NM_178311.2	62	tCc/tAc	0	validated		probablydamaging	
HDAC4		inserm.fr	GRCh37	2	239990205	239990205	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000345617.3:c.2834G>A	p.Gly945Asp	p.G945D	ENST00000345617	NM_006037.3	945	gGc/gAc	0	not done		probablydamaging	
HDAC4		inserm.fr	GRCh37	2	240024500	240024500	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000345617.3:c.2190G>A	p.Arg730=	p.R730=	ENST00000345617	NM_006037.3	730	cgG/cgA	0	not done		synonymous	
ZFHX2		inserm.fr	GRCh37	14	24002720	24002720	+	synonymous_variant	Silent	SNP	C	T	T			CHC2112T																					ENST00000419474.3:c.1815G>A	p.Pro605=	p.P605=	ENST00000419474	NM_033400.2	605	ccG/ccA	0	not done		synonymous	
HDAC4		inserm.fr	GRCh37	2	240111583	240111583	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000345617.3:c.285G>A	p.Arg95=	p.R95=	ENST00000345617	NM_006037.3	95	agG/agA	0	not done		synonymous	
FMN2		inserm.fr	GRCh37	1	240286507	240286507	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000319653.9:c.1644C>T	p.Ser548=	p.S548=	ENST00000319653	NM_020066.4	548	agC/agT	0	not done		synonymous	
RGL4		inserm.fr	GRCh37	22	24034855	24034855	+	splice_acceptor_variant	Splice_Site	SNP	G	T	T			CHC798T									Valid												ENST00000290691.5:c.374-1G>T		p.X125_splice	ENST00000290691	NM_153615.1			0	validated		damaging	
FMN2		inserm.fr	GRCh37	1	240370805	240370805	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T																					ENST00000319653.9:c.2693A>T	p.Gln898Leu	p.Q898L	ENST00000319653	NM_020066.4	898	cAa/cTa	0	validated		benign	
JPH4		inserm.fr	GRCh37	14	24045274	24045274	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000397118.3:c.771G>A	p.Pro257=	p.P257=	ENST00000397118	NM_032452.2	257	ccG/ccA	0	not done		synonymous	
AC079612.1		inserm.fr	GRCh37	2	240500577	240500577	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000358775.1:c.458C>T	p.Pro153Leu	p.P153L	ENST00000358775		153	cCc/cTc	0	not done			
GREM2		inserm.fr	GRCh37	1	240656666	240656666	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000318160.4:c.110G>A	p.Gly37Asp	p.G37D	ENST00000318160	NM_022469.3	37	gGc/gAc	0	not done		benign	
LOC150935		inserm.fr	GRCh37	2	240702049	240702049	+	synonymous_variant	Silent	SNP	G	T	T			CHC1746T																					ENST00000407524.1:c.99G>T	p.Gly33=	p.G33=	ENST00000407524		33	ggG/ggT	0	not done		synonymous	
CHCHD10		inserm.fr	GRCh37	22	24109588	24109588	+	synonymous_variant	Silent	SNP	C	T	T			CHC1010T																					ENST00000484558.2:c.234G>A	p.Ser78=	p.S78=	ENST00000484558		78	tcG/tcA	0	not done		synonymous	
CHCHD10		inserm.fr	GRCh37	22	24109588	24109588	+	synonymous_variant	Silent	SNP	C	T	T			CHC902T																					ENST00000484558.2:c.234G>A	p.Ser78=	p.S78=	ENST00000484558		78	tcG/tcA	0	not done		synonymous	
ZNF726		inserm.fr	GRCh37	19	24116208	24116208	+	synonymous_variant	Silent	SNP	C	T	T			CHC1600T																					ENST00000594466.1:c.1290C>T	p.Cys430=	p.C430=	ENST00000594466	NM_001244038.1	430	tgC/tgT	0	not done		synonymous	
GALE		inserm.fr	GRCh37	1	24122689	24122689	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC306T									Valid												ENST00000374497.3:c.940G>A	p.Ala314Thr	p.A314T	ENST00000374497	NM_001008216.1	314	Gcc/Acc	0	validated		probablydamaging	
MMP11		inserm.fr	GRCh37	22	24123390	24123390	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000215743.3:c.869C>T	p.Pro290Leu	p.P290L	ENST00000215743	NM_005940.3	290	cCg/cTg	0	not done		benign	
MMP11		inserm.fr	GRCh37	22	24124458	24124458	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000215743.3:c.1121C>T	p.Pro374Leu	p.P374L	ENST00000215743	NM_005940.3	374	cCc/cTc	0	validated		probablydamaging	
KCTD1		inserm.fr	GRCh37	18	24127406	24127406	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000408011.3:c.-16+1449G>A		*6*	ENST00000408011	NM_001136205.2			0	not done		synonymous	
SMARCB1		inserm.fr	GRCh37	22	24145583	24145583	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC301T									Valid												ENST00000263121.7:c.602G>T	p.Arg201Leu	p.R201L	ENST00000263121	NM_003073.3	201	cGa/cTa	0	validated		possiblydamaging	
KIF1A		inserm.fr	GRCh37	2	241727546	241727546	+	synonymous_variant	Silent	SNP	G	T	T			CHC302T																					ENST00000498729.2:c.285C>A	p.Ala95=	p.A95=	ENST00000498729	NM_001244008.1	95	gcC/gcA	0	validated		synonymous	
WDR64		inserm.fr	GRCh37	1	241938490	241938490	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1545T																					ENST00000366552.2:c.2484G>T	p.Arg828Ser	p.R828S	ENST00000366552	NM_144625.4	828	agG/agT	0	not done		probablydamaging	
PRKCB		inserm.fr	GRCh37	16	24196843	24196843	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000303531.7:c.1677C>T	p.Ala559=	p.A559=	ENST00000303531	NM_002738.6	559	gcC/gcT	0	not done		synonymous	
PRKCB		inserm.fr	GRCh37	16	24202411	24202411	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC2208T																					ENST00000303531.7:c.1723C>T	p.Leu575=	p.L575=	ENST00000303531	NM_002738.6	575	Ctg/Ttg	0	not done		damaging	
EXO1		inserm.fr	GRCh37	1	242042051	242042051	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			BCM739T									Valid												ENST00000366548.3:c.1515G>T	p.Arg505Ser	p.R505S	ENST00000366548	NM_130398.3	505	agG/agT	0	validated		possiblydamaging	
PASK		inserm.fr	GRCh37	2	242046110	242046110	+	synonymous_variant	Silent	SNP	C	T	T			CHC2052T																					ENST00000358649.4:c.3864G>A	p.Leu1288=	p.L1288=	ENST00000358649		1288	ctG/ctA	0	not done		synonymous	
ANO7		inserm.fr	GRCh37	2	242140719	242140719	+	synonymous_variant	Silent	SNP	C	T	T			CHC889T																					ENST00000274979.8:c.723C>T	p.Leu241=	p.L241=	ENST00000274979	NM_001001891.3	241	ctC/ctT	0	not done		synonymous	
HDLBP		inserm.fr	GRCh37	2	242181894	242181894	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1531T																					ENST00000391975.1:c.2150T>A	p.Leu717Gln	p.L717Q	ENST00000391975	NM_203346.3	717	cTg/cAg	0	not done		benign	
SLC2A11		inserm.fr	GRCh37	22	24224952	24224952	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM783T																					ENST00000398356.2:c.901G>T	p.Ala301Ser	p.A301S	ENST00000398356	NM_001024938.2	301	Gcc/Tcc	0	validated		benign	
PLD5		inserm.fr	GRCh37	1	242271091	242271091	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1556T																					ENST00000536534.2:c.1121G>A	p.Arg374Gln	p.R374Q	ENST00000536534		374	cGa/cAa	0	not done		possiblydamaging	
SEPT2		inserm.fr	GRCh37	2	242289503	242289503	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC2034T																					ENST00000391973.2:c.1000G>T	p.Glu334Ter	p.E334*	ENST00000391973	NM_006155.1	334	Gag/Tag	0	not done		damaging	
BOK		inserm.fr	GRCh37	2	242498922	242498922	+	synonymous_variant	Silent	SNP	G	T	T			BCM545T																					ENST00000318407.3:c.24G>T	p.Ser8=	p.S8=	ENST00000318407	NM_032515.4	8	tcG/tcT	0	validated		synonymous	
TMPRSS9		inserm.fr	GRCh37	19	2425452	2425452	+	synonymous_variant	Silent	SNP	G	T	T			CHC1035T																					ENST00000332578.3:c.2979G>T	p.Leu993=	p.L993=	ENST00000332578	NM_182973.1	993	ctG/ctT	0	validated		synonymous	
THAP4		inserm.fr	GRCh37	2	242572381	242572381	+	synonymous_variant	Silent	SNP	C	T	T			CHC879T																					ENST00000407315.1:c.1191G>A	p.Leu397=	p.L397=	ENST00000407315	NM_015963.5	397	ctG/ctA	0	not done		synonymous	
THAP4		inserm.fr	GRCh37	2	242572998	242572998	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000407315.1:c.574G>A	p.Ala192Thr	p.A192T	ENST00000407315	NM_015963.5	192	Gcg/Acg	0	not done		benign	
ATG4B		inserm.fr	GRCh37	2	242610791	242610791	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM617T																					ENST00000404914.3:c.1079C>T	p.Ala360Val	p.A360V	ENST00000404914	NM_013325.4	360	gCc/gTc	0	validated		benign	
ING5		inserm.fr	GRCh37	2	242648791	242648791	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000313552.6:c.270C>T	p.Tyr90=	p.Y90=	ENST00000313552	NM_032329.4	90	taC/taT	0	validated		synonymous	
ING5		inserm.fr	GRCh37	2	242651475	242651475	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T																					ENST00000313552.6:c.471G>T	p.Lys157Asn	p.K157N	ENST00000313552	NM_032329.4	157	aaG/aaT	0	validated		probablydamaging	
NEU4		inserm.fr	GRCh37	2	242756247	242756247	+	synonymous_variant	Silent	SNP	C	T	T			CHC258T																					ENST00000325935.6:c.399C>T	p.Asn133=	p.N133=	ENST00000325935		133	aaC/aaT	0	validated		synonymous	
PDCD1		inserm.fr	GRCh37	2	242794381	242794381	+	synonymous_variant	Silent	SNP	G	T	T			CHC197T																					ENST00000334409.5:c.561C>A	p.Val187=	p.V187=	ENST00000334409	NM_005018.2	187	gtC/gtA	0	validated		synonymous	
CXXC11		inserm.fr	GRCh37	2	242814889	242814889	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000343216.3:c.1182C>T	p.Gly394=	p.G394=	ENST00000343216	NM_173821.2	394	ggC/ggT	0	not done		synonymous	
PLCH2		inserm.fr	GRCh37	1	2430637	2430637	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1183T																					ENST00000449969.1:c.2468A>T	p.Gln823Leu	p.Q823L	ENST00000449969		823	cAg/cTg	0	not done		probablydamaging	
FAM48B2		inserm.fr	GRCh37	X	24329034	24329034	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC892T																					ENST00000536351.1:n.2399G>A		*800*	ENST00000536351				0	not done		benign	
CEP170		inserm.fr	GRCh37	1	243299503	243299503	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2128T																					ENST00000366542.1:c.4261G>A	p.Val1421Ile	p.V1421I	ENST00000366542	NM_014812.2	1421	Gtc/Atc	0	not done		probablydamaging	
FAM48B2		inserm.fr	GRCh37	X	24330867	24330867	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC892T																					ENST00000536351.1:n.566G>A		*189*	ENST00000536351				0	not done		benign	
FAM48B2		inserm.fr	GRCh37	X	24331039	24331039	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC892T																					ENST00000536351.1:n.394G>A		*132*	ENST00000536351				0	not done		benign	
PLCH2		inserm.fr	GRCh37	1	2433668	2433668	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000449969.1:c.2698C>T	p.Arg900Trp	p.R900W	ENST00000449969		900	Cgg/Tgg	0	not done		probablydamaging	
LMNB2		inserm.fr	GRCh37	19	2434426	2434426	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000325327.3:c.1069G>A	p.Glu357Lys	p.E357K	ENST00000325327		357	Gag/Aag	0	validated		probablydamaging	
TRPM5		inserm.fr	GRCh37	11	2434792	2434792	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000155858.6:c.1917G>A	p.Gly639=	p.G639=	ENST00000155858	NM_014555.3	639	ggG/ggA	0	not done		synonymous	
PLCH2		inserm.fr	GRCh37	1	2435695	2435695	+	3_prime_UTR_variant	3'UTR	SNP	G	T	T			CHC320T																					ENST00000449969.1:c.*629G>T		*210*	ENST00000449969				0	validated		synonymous	
ADAM7		inserm.fr	GRCh37	8	24358326	24358326	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000175238.6:c.2026C>T	p.Leu676Phe	p.L676F	ENST00000175238	NM_003817.3	676	Ctt/Ttt	0	not done		probablydamaging	
ADAM7		inserm.fr	GRCh37	8	24359020	24359020	+	synonymous_variant	Silent	SNP	C	T	T			BCM399T																					ENST00000175238.6:c.2139C>T	p.Asn713=	p.N713=	ENST00000175238	NM_003817.3	713	aaC/aaT	0	validated		synonymous	
TRPM5		inserm.fr	GRCh37	11	2436179	2436179	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000155858.6:c.1578G>A	p.Val526=	p.V526=	ENST00000155858	NM_014555.3	526	gtG/gtA	0	not done		synonymous	
TRPM5		inserm.fr	GRCh37	11	2436511	2436511	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000155858.6:c.1319G>A	p.Arg440Gln	p.R440Q	ENST00000155858	NM_014555.3	440	cGg/cAg	0	not done		benign	
LOC391322		inserm.fr	GRCh37	22	24373142	24373142	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC1534T																					ENST00000439866.1:n.26C>T		*9*	ENST00000439866				0	validated			
TRPM5		inserm.fr	GRCh37	11	2439012	2439012	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2115T									Valid												ENST00000155858.6:c.954C>A	p.Phe318Leu	p.F318L	ENST00000155858	NM_014555.3	318	ttC/ttA	0	validated		possiblydamaging	
TRPM5		inserm.fr	GRCh37	11	2439539	2439539	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000155858.6:c.764G>A	p.Gly255Asp	p.G255D	ENST00000155858	NM_014555.3	255	gGc/gAc	0	not done		probablydamaging	
PANK4		inserm.fr	GRCh37	1	2440326	2440326	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1743T																					ENST00000378466.3:c.2282T>A	p.Leu761His	p.L761H	ENST00000378466	NM_018216.1	761	cTc/cAc	0	not done		probablydamaging	
TRPM5		inserm.fr	GRCh37	11	2441602	2441602	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1055T									Valid												ENST00000155858.6:c.499G>A	p.Gly167Ser	p.G167S	ENST00000155858	NM_014555.3	167	Ggc/Agc	0	validated		probablydamaging	
MYOM3		inserm.fr	GRCh37	1	24421443	24421443	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000374434.3:c.828G>A	p.Val276=	p.V276=	ENST00000374434	NM_152372.3	276	gtG/gtA	0	not done		synonymous	
ITSN2		inserm.fr	GRCh37	2	24428132	24428132	+	synonymous_variant	Silent	SNP	C	T	T			CHC1725T																					ENST00000355123.4:c.4713G>A	p.Leu1571=	p.L1571=	ENST00000355123	NM_006277.2	1571	ctG/ctA	0	not done		synonymous	
PANK4		inserm.fr	GRCh37	1	2443074	2443074	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000378466.3:c.1776G>A	p.Lys592=	p.K592=	ENST00000378466	NM_018216.1	592	aaG/aaA	0	not done		synonymous	
AQP4		inserm.fr	GRCh37	18	24441241	24441241	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC912T																					ENST00000383168.4:c.466G>A	p.Ala156Thr	p.A156T	ENST00000383168	NM_001650.4	156	Gct/Act	0	validated		possiblydamaging	
SNRPB		inserm.fr	GRCh37	20	2444464	2444464	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000438552.2:c.349G>A	p.Gly117Arg	p.G117R	ENST00000438552	NM_198216.1	117	Ggg/Agg	0	not done		possiblydamaging	
DHRS4L2		inserm.fr	GRCh37	14	24459483	24459483	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC798T																					ENST00000335125.6:c.221C>T	p.Ala74Val	p.A74V	ENST00000335125	NM_198083.3	74	gCc/gTc	0	validated			
MIPEP		inserm.fr	GRCh37	13	24460532	24460532	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000382172.3:c.303G>A	p.Gly101=	p.G101=	ENST00000382172	NM_005932.3	101	ggG/ggA	0	not done		synonymous	
MIPEP		inserm.fr	GRCh37	13	24463328	24463328	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000382172.3:c.132C>A	p.Gly44=	p.G44=	ENST00000382172	NM_005932.3	44	ggC/ggA	0	validated		synonymous	
DHRS4L2		inserm.fr	GRCh37	14	24470248	24470248	+	synonymous_variant	Silent	SNP	C	T	T			CHC433T																					ENST00000335125.6:c.486C>T	p.Gly162=	p.G162=	ENST00000335125	NM_198083.3	162	ggC/ggT	0	validated		synonymous	
CABIN1		inserm.fr	GRCh37	22	24472184	24472184	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC794T									Valid												ENST00000398319.2:c.2699G>T	p.Gly900Val	p.G900V	ENST00000398319	NM_001199281.1	900	gGc/gTc	0	validated		probablydamaging	
C1orf101		inserm.fr	GRCh37	1	244803257	244803257	+	synonymous_variant	Silent	SNP	C	T	T			CHC1738T																					ENST00000366534.4:c.2730C>T	p.Phe910=	p.F910=	ENST00000366534	NM_001130957.1	910	ttC/ttT	0	not done		synonymous	
GPLD1		inserm.fr	GRCh37	6	24489699	24489699	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1739T																					ENST00000230036.1:c.41T>A	p.Leu14Ter	p.L14*	ENST00000230036	NM_001503.3	14	tTg/tAg	0	not done		damaging	
KIAA1217		inserm.fr	GRCh37	10	24508803	24508803	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1746T																					ENST00000376454.3:c.319G>T	p.Ala107Ser	p.A107S	ENST00000376454	NM_019590.3	107	Gca/Tca	0	not done		probablydamaging	
PANK4		inserm.fr	GRCh37	1	2451249	2451249	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000378466.3:c.844G>A	p.Ala282Thr	p.A282T	ENST00000378466	NM_018216.1	282	Gcc/Acc	0	not done		benign	
LOC402160		inserm.fr	GRCh37	4	2451465	2451465	+	upstream_gene_variant	5'Flank	SNP	C	T	T			BCM703T																								ENST00000506607				0	validated		synonymous	
SYNDIG1		inserm.fr	GRCh37	20	24523749	24523749	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC798T									Valid												ENST00000376862.3:c.16G>T	p.Glu6Ter	p.E6*	ENST00000376862	NM_024893.2	6	Gaa/Taa	0	validated		damaging	
DHX15		inserm.fr	GRCh37	4	24542478	24542478	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM269T									Valid												ENST00000336812.4:c.1579T>A	p.Phe527Ile	p.F527I	ENST00000336812	NM_001358.2	527	Ttt/Att	0	validated		probablydamaging	
KIF26B		inserm.fr	GRCh37	1	245530378	245530378	+	synonymous_variant	Silent	SNP	G	T	T			CHC1148T																					ENST00000407071.2:c.708G>T	p.Val236=	p.V236=	ENST00000407071	NM_018012.3	236	gtG/gtT	0	not done		synonymous	
LMNB2		inserm.fr	GRCh37	19	2456731	2456731	+	synonymous_variant	Silent	SNP	C	T	T			CHC1152T																					ENST00000325327.3:c.201G>A	p.Leu67=	p.L67=	ENST00000325327		67	ctG/ctA	0	not done		synonymous	
LMNB2		inserm.fr	GRCh37	19	2456877	2456877	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2043T																					ENST00000325327.3:c.55G>A	p.Ala19Thr	p.A19T	ENST00000325327		19	Gcc/Acc	0	validated			
KIAA0319		inserm.fr	GRCh37	6	24569058	24569058	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1601T																					ENST00000378214.3:c.2091C>A	p.Asp697Glu	p.D697E	ENST00000378214	NM_014809.3	697	gaC/gaA	0	not done		probablydamaging	
KIF26B		inserm.fr	GRCh37	1	245704098	245704098	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC327T									Valid												ENST00000407071.2:c.1196A>T	p.Lys399Ile	p.K399I	ENST00000407071	NM_018012.3	399	aAa/aTa	0	validated		probablydamaging	
RBBP6		inserm.fr	GRCh37	16	24582445	24582445	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000319715.4:c.4058G>T	p.Ser1353Ile	p.S1353I	ENST00000319715	NM_006910.4	1353	aGt/aTt	0	not done		probablydamaging	
SUSD2		inserm.fr	GRCh37	22	24583673	24583673	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T																					ENST00000358321.3:c.2026G>T	p.Ala676Ser	p.A676S	ENST00000358321	NM_019601.3	676	Gca/Tca	0	validated		benign	
KIAA0319		inserm.fr	GRCh37	6	24596802	24596802	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000378214.3:c.100G>A	p.Ala34Thr	p.A34T	ENST00000378214	NM_014809.3	34	Gca/Aca	0	not done		probablydamaging	
SMYD3		inserm.fr	GRCh37	1	246078904	246078904	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000388985.4:c.741G>A	p.Glu247=	p.E247=	ENST00000388985		247	gaG/gaA	0	not done		synonymous	
PCYT1B		inserm.fr	GRCh37	X	24625956	24625956	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000379144.2:c.240C>A	p.Tyr80Ter	p.Y80*	ENST00000379144	NM_004845.4	80	taC/taA	0	not done		damaging	
TDP2		inserm.fr	GRCh37	6	24658810	24658810	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000378198.4:c.404G>A	p.Gly135Glu	p.G135E	ENST00000378198		135	gGg/gAg	0	not done		benign	
GRHL3		inserm.fr	GRCh37	1	24662978	24662978	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000350501.5:c.273C>T	p.Tyr91=	p.Y91=	ENST00000350501	NM_198174.2	91	taC/taT	0	not done		synonymous	
GRHL3		inserm.fr	GRCh37	1	24664198	24664198	+	synonymous_variant	Silent	SNP	C	T	T			BCM325T																					ENST00000350501.5:c.759C>T	p.Leu253=	p.L253=	ENST00000350501	NM_198174.2	253	ctC/ctT	0	validated		synonymous	
AHCTF1		inserm.fr	GRCh37	1	247004124	247004124	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1191T																					ENST00000326225.3:c.6812G>A	p.Arg2271His	p.R2271H	ENST00000326225	NM_015446.4	2271	cGc/cAc	0	not done		probablydamaging	
AHCTF1		inserm.fr	GRCh37	1	247013241	247013241	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000326225.3:c.6094G>A	p.Gly2032Arg	p.G2032R	ENST00000326225	NM_015446.4	2032	Gga/Aga	0	not done		possiblydamaging	
AHCTF1		inserm.fr	GRCh37	1	247024322	247024322	+	synonymous_variant	Silent	SNP	G	T	T			CHC1148T																					ENST00000326225.3:c.4038C>A	p.Ala1346=	p.A1346=	ENST00000326225	NM_015446.4	1346	gcC/gcA	0	not done		synonymous	
ZNF695		inserm.fr	GRCh37	1	247151334	247151334	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC805T																					ENST00000339986.7:c.483T>A	p.Cys161Ter	p.C161*	ENST00000339986	NM_020394.4	161	tgT/tgA	0	not done		damaging	
TGM1		inserm.fr	GRCh37	14	24724645	24724645	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC923T																					ENST00000206765.6:c.1570G>A	p.Gly524Ser	p.G524S	ENST00000206765	NM_000359.2	524	Ggc/Agc	0	not done		probablydamaging	
C1orf229		inserm.fr	GRCh37	1	247275419	247275419	+	synonymous_variant	Silent	SNP	G	T	T			CHC961T																					ENST00000408893.2:c.108C>A	p.Arg36=	p.R36=	ENST00000408893	NM_207401.1	36	cgC/cgA	0	validated		synonymous	
NLRP3		inserm.fr	GRCh37	1	247582145	247582145	+	synonymous_variant	Silent	SNP	C	T	T			CHC879T																					ENST00000336119.3:c.49C>T	p.Leu17=	p.L17=	ENST00000336119	NM_001127462.2	17	Ctg/Ttg	0	not done		synonymous	
NLRP3		inserm.fr	GRCh37	1	247582189	247582189	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000336119.3:c.93C>T	p.Asp31=	p.D31=	ENST00000336119	NM_001127462.2	31	gaC/gaT	0	not done		synonymous	
NLRP3		inserm.fr	GRCh37	1	247588635	247588635	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1531T																					ENST00000336119.3:c.1890G>T	p.Leu630Phe	p.L630F	ENST00000336119	NM_001127462.2	630	ttG/ttT	0	not done		possiblydamaging	
NLRP3		inserm.fr	GRCh37	1	247597504	247597504	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000336119.3:c.2427C>T	p.Ala809=	p.A809=	ENST00000336119	NM_001127462.2	809	gcC/gcT	0	not done		synonymous	
NLRP3		inserm.fr	GRCh37	1	247607419	247607419	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000336119.3:c.2815C>T	p.Pro939Ser	p.P939S	ENST00000336119	NM_001127462.2	939	Ccc/Tcc	0	not done		benign	
OR2B11		inserm.fr	GRCh37	1	247614918	247614918	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1534T																					ENST00000318749.6:c.367G>A	p.Ala123Thr	p.A123T	ENST00000318749	NM_001004492.1	123	Gcc/Acc	0	validated		benign	
KIAA1217		inserm.fr	GRCh37	10	24762157	24762157	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	T	T			CHC451T																					ENST00000376454.3:c.847A>T	p.Met283Leu	p.M283L	ENST00000376454	NM_019590.3	283	Atg/Ttg	0	validated		probablydamaging	
KIAA1217		inserm.fr	GRCh37	10	24762865	24762865	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000376454.3:c.1555G>T	p.Val519Leu	p.V519L	ENST00000376454	NM_019590.3	519	Gtg/Ttg	0	not done		probablydamaging	
OR2W5		inserm.fr	GRCh37	1	247654775	247654775	+	non_coding_transcript_exon_variant	RNA	SNP	G	T	T			CHC1531T																					ENST00000530852.2:n.406G>T		*136*	ENST00000530852				0	not done		possiblydamaging	
OR2W5		inserm.fr	GRCh37	1	247654931	247654931	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			BCM501T																					ENST00000530852.2:n.562C>T		*188*	ENST00000530852				0	validated		probablydamaging	
POLA1		inserm.fr	GRCh37	X	24766449	24766449	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000379059.3:c.2695C>T	p.Pro899Ser	p.P899S	ENST00000379059	NM_016937.3	899	Cct/Tct	0	not done		probablydamaging	
NOP9		inserm.fr	GRCh37	14	24772940	24772940	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	T	T			BCM711T																					ENST00000267425.3:c.1287A>T	p.Ala429=	p.A429=	ENST00000267425	NM_174913.1	429	gcA/gcT	0	validated		synonymous	
NEFM		inserm.fr	GRCh37	8	24775850	24775850	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB109T									Valid												ENST00000221166.5:c.2482G>T	p.Gly828Cys	p.G828C	ENST00000221166		828	Ggc/Tgc	0	validated		probablydamaging	
OR2G3		inserm.fr	GRCh37	1	247769083	247769083	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1207T																					ENST00000320002.2:c.196C>T	p.Leu66Phe	p.L66F	ENST00000320002	NM_001001914.1	66	Ctc/Ttc	0	not done		probablydamaging	
OR2G3		inserm.fr	GRCh37	1	247769163	247769163	+	synonymous_variant	Silent	SNP	C	T	T			CHC051T																					ENST00000320002.2:c.276C>T	p.Ile92=	p.I92=	ENST00000320002	NM_001001914.1	92	atC/atT	0	validated		synonymous	
OR2G3		inserm.fr	GRCh37	1	247769583	247769583	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1207T																					ENST00000320002.2:c.696G>T	p.Glu232Asp	p.E232D	ENST00000320002	NM_001001914.1	232	gaG/gaT	0	not done		probablydamaging	
OR2G3		inserm.fr	GRCh37	1	247769584	247769584	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1207T																					ENST00000320002.2:c.697G>T	p.Ala233Ser	p.A233S	ENST00000320002	NM_001001914.1	233	Gca/Tca	0	not done		benign	
LTB4R2		inserm.fr	GRCh37	14	24780930	24780930	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1602T																					ENST00000528054.1:c.1153C>T	p.Pro385Ser	p.P385S	ENST00000528054		385	Ccg/Tcg	0	validated		benign	
OR6F1		inserm.fr	GRCh37	1	247875250	247875250	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM545T																					ENST00000302084.2:c.808C>A	p.Leu270Met	p.L270M	ENST00000302084	NM_001005286.1	270	Ctg/Atg	0	validated		probablydamaging	
OR6F1		inserm.fr	GRCh37	1	247875697	247875697	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2128T																					ENST00000302084.2:c.361G>A	p.Asp121Asn	p.D121N	ENST00000302084	NM_001005286.1	121	Gac/Aac	0	not done		possiblydamaging	
OR14A2		inserm.fr	GRCh37	1	247886450	247886450	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCB109T																					ENST00000366485.1:c.896T>A	p.Leu299Gln	p.L299Q	ENST00000366485		299	cTg/cAg	0	validated			
OR14K1		inserm.fr	GRCh37	1	247902298	247902298	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000283225.2:c.382C>T	p.Leu128=	p.L128=	ENST00000283225		128	Cta/Tta	0	not done		synonymous	
ADCY4		inserm.fr	GRCh37	14	24798690	24798690	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC451T																					ENST00000310677.4:c.1267G>A	p.Ala423Thr	p.A423T	ENST00000310677	NM_001198568.1	423	Gct/Act	0	validated		benign	
ADCY4		inserm.fr	GRCh37	14	24799406	24799406	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000310677.4:c.1026G>A	p.Val342=	p.V342=	ENST00000310677	NM_001198568.1	342	gtG/gtA	0	not done		synonymous	
TRIM58		inserm.fr	GRCh37	1	248020695	248020695	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000366481.3:c.147C>T	p.Gly49=	p.G49=	ENST00000366481	NM_015431.3	49	ggC/ggT	0	not done		synonymous	
TRIM58		inserm.fr	GRCh37	1	248020737	248020737	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000366481.3:c.189C>T	p.Pro63=	p.P63=	ENST00000366481	NM_015431.3	63	ccC/ccT	0	not done		synonymous	
TRIM58		inserm.fr	GRCh37	1	248028216	248028216	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000366481.3:c.726C>T	p.Arg242=	p.R242=	ENST00000366481	NM_015431.3	242	cgC/cgT	0	not done		synonymous	
TRIM58		inserm.fr	GRCh37	1	248039531	248039531	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2128T																					ENST00000366481.3:c.1201C>T	p.Pro401Ser	p.P401S	ENST00000366481	NM_015431.3	401	Cct/Tct	0	not done		benign	
OR2W3		inserm.fr	GRCh37	1	248059737	248059737	+	synonymous_variant	Silent	SNP	C	T	T			CHC432T																					ENST00000537741.1:c.849C>T	p.Pro283=	p.P283=	ENST00000537741		283	ccC/ccT	0	not done		synonymous	
RIPK3		inserm.fr	GRCh37	14	24807497	24807497	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB109T									Valid												ENST00000216274.5:c.622G>A	p.Gly208Arg	p.G208R	ENST00000216274	NM_006871.3	208	Ggg/Agg	0	validated		probablydamaging	
OR2AJ1		inserm.fr	GRCh37	1	248097383	248097383	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB325T																					ENST00000318244.3:c.313C>T	p.Leu105Phe	p.L105F	ENST00000318244		105	Ctc/Ttc	0	validated			
NEFL		inserm.fr	GRCh37	8	24811067	24811067	+	non_coding_transcript_exon_variant	RNA	SNP	G	T	T			CHC2127T																					ENST00000221169.5:n.2007C>A		*669*	ENST00000221169				0	not done		damaging	
OR2L8		inserm.fr	GRCh37	1	248112268	248112268	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC314T																					ENST00000357191.3:c.109G>T	p.Ala37Ser	p.A37S	ENST00000357191	NM_001001963.1	37	Gct/Tct	0	validated		possiblydamaging	
NEFL		inserm.fr	GRCh37	8	24813333	24813333	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC197T																					ENST00000221169.5:n.1292G>A		*431*	ENST00000221169				0	validated		possiblydamaging	
KIAA1217		inserm.fr	GRCh37	10	24816997	24816997	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1055T																					ENST00000376454.3:c.3031A>T	p.Thr1011Ser	p.T1011S	ENST00000376454	NM_019590.3	1011	Aca/Tca	0	validated		benign	
OR2L2		inserm.fr	GRCh37	1	248202129	248202129	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000366479.2:c.560C>T	p.Ala187Val	p.A187V	ENST00000366479	NM_001004686.2	187	gCc/gTc	0	not done		benign	
IQSEC3		inserm.fr	GRCh37	12	248215	248215	+	synonymous_variant	Silent	SNP	G	T	T			CHC2202T																					ENST00000538872.1:c.1686G>T	p.Ala562=	p.A562=	ENST00000538872		562	gcG/gcT	0	validated		synonymous	
OR2L13		inserm.fr	GRCh37	1	248263461	248263461	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1720T																					ENST00000366478.2:c.784A>T	p.Arg262Trp	p.R262W	ENST00000366478	NM_175911.2	262	Agg/Tgg	0	not done		probablydamaging	
OR2M2		inserm.fr	GRCh37	1	248344073	248344073	+	synonymous_variant	Silent	SNP	C	T	T			CHC1756T																					ENST00000359682.2:c.786C>T	p.Pro262=	p.P262=	ENST00000359682	NM_001004688.1	262	ccC/ccT	0	not done		synonymous	
OR2M3		inserm.fr	GRCh37	1	248366562	248366562	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1598T																					ENST00000456743.1:c.193C>T	p.Gln65Ter	p.Q65*	ENST00000456743	NM_001004689.1	65	Caa/Taa	0	not done		damaging	
NFATC4		inserm.fr	GRCh37	14	24837621	24837621	+	synonymous_variant	Silent	SNP	G	T	T			CHC1035T																					ENST00000413692.2:c.264G>T	p.Pro88=	p.P88=	ENST00000413692	NM_001198967.1	88	ccG/ccT	0	validated		synonymous	
CCDC149		inserm.fr	GRCh37	4	24838930	24838930	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000504487.1:c.582G>A	p.Arg194=	p.R194=	ENST00000504487	NM_001130726.2	194	agG/agA	0	not done		synonymous	
NFATC4		inserm.fr	GRCh37	14	24839226	24839226	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000413692.2:c.811C>T	p.Arg271Cys	p.R271C	ENST00000413692	NM_001198967.1	271	Cgc/Tgc	0	not done		probablydamaging	
NFATC4		inserm.fr	GRCh37	14	24839432	24839432	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000413692.2:c.1017C>T	p.Thr339=	p.T339=	ENST00000413692	NM_001198967.1	339	acC/acT	0	not done		synonymous	
OR2M4		inserm.fr	GRCh37	1	248402902	248402902	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000306687.1:c.672C>T	p.Ala224=	p.A224=	ENST00000306687	NM_017504.1	224	gcC/gcT	0	not done		synonymous	
NFATC4		inserm.fr	GRCh37	14	24845658	24845658	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000413692.2:c.2404G>T	p.Glu802Ter	p.E802*	ENST00000413692	NM_001198967.1	802	Gaa/Taa	0	not done		damaging	
OR14C36		inserm.fr	GRCh37	1	248512313	248512313	+	synonymous_variant	Silent	SNP	A	T	T			CHC361TA																					ENST00000317861.1:c.237A>T	p.Ser79=	p.S79=	ENST00000317861	NM_001001918.1	79	tcA/tcT	0	validated		synonymous	
CCDC149		inserm.fr	GRCh37	4	24854749	24854749	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC884T																					ENST00000504487.1:c.317G>A	p.Gly106Glu	p.G106E	ENST00000504487	NM_001130726.2	106	gGa/gAa	0	validated		benign	
CCDC149		inserm.fr	GRCh37	4	24854750	24854750	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000504487.1:c.316G>A	p.Gly106Arg	p.G106R	ENST00000504487	NM_001130726.2	106	Gga/Aga	0	not done		probablydamaging	
OR2T6		inserm.fr	GRCh37	1	248551757	248551757	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000355728.2:c.848C>T	p.Pro283Leu	p.P283L	ENST00000355728	NM_001005471.1	283	cCc/cTc	0	not done		probablydamaging	
OR2T2		inserm.fr	GRCh37	1	248616579	248616579	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC314T																					ENST00000342927.3:c.481A>T	p.Thr161Ser	p.T161S	ENST00000342927	NM_001004136.1	161	Act/Tct	0	validated		benign	
SPATA13		inserm.fr	GRCh37	13	24871585	24871585	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	T	T			CHC1148T																					ENST00000382141.4:c.2929C>T	p.Arg977Trp	p.R977W	ENST00000382141		977	Cgg/Tgg	0	not done		probablydamaging	
SPATA13		inserm.fr	GRCh37	13	24871631	24871631	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	T	T			CHC1725T																					ENST00000382141.4:c.2975A>T	p.Asp992Val	p.D992V	ENST00000382141		992	gAc/gTc	0	not done		probablydamaging	
CCDC149		inserm.fr	GRCh37	4	24878224	24878224	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000504487.1:c.159C>A	p.Tyr53Ter	p.Y53*	ENST00000504487	NM_001130726.2	53	taC/taA	0	not done		damaging	
OR14I1		inserm.fr	GRCh37	1	248845350	248845350	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T																					ENST00000342623.3:c.256C>A	p.Arg86Ser	p.R86S	ENST00000342623	NM_001004734.1	86	Cgc/Agc	0	validated		benign	
CBLN3		inserm.fr	GRCh37	14	24898089	24898089	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000267406.6:c.172G>A	p.Gly58Arg	p.G58R	ENST00000267406	NM_001039771.2	58	Ggg/Agg	0	not done		probablydamaging	
KHNYN		inserm.fr	GRCh37	14	24906372	24906372	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000251343.5:c.1918C>T	p.Arg640Trp	p.R640W	ENST00000251343		640	Cgg/Tgg	0	validated		probablydamaging	
SH3BP5L		inserm.fr	GRCh37	1	249106270	249106270	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1568T																					ENST00000366472.5:c.1011C>A	p.Ser337Arg	p.S337R	ENST00000366472	NM_030645.1	337	agC/agA	0	not done		probablydamaging	
SH3BP5L		inserm.fr	GRCh37	1	249111074	249111074	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000366472.5:c.193G>A	p.Glu65Lys	p.E65K	ENST00000366472	NM_030645.1	65	Gag/Aag	0	not done		probablydamaging	
LUC7L		inserm.fr	GRCh37	16	249116	249116	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000293872.8:c.632G>A	p.Gly211Asp	p.G211D	ENST00000293872	NM_201412.1	211	gGt/gAt	0	not done		probablydamaging	
SH3BP5L		inserm.fr	GRCh37	1	249119017	249119017	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1602T																					ENST00000366472.5:c.118G>A	p.Gly40Arg	p.G40R	ENST00000366472	NM_030645.1	40	Gga/Aga	0	not done		benign	
NPAP1		inserm.fr	GRCh37	15	24922433	24922433	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1742T																					ENST00000329468.2:c.1419G>T	p.Leu473Phe	p.L473F	ENST00000329468	NM_018958.2	473	ttG/ttT	0	not done		possiblydamaging	
NPAP1		inserm.fr	GRCh37	15	24922434	24922434	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1742T																					ENST00000329468.2:c.1420G>T	p.Gly474Cys	p.G474C	ENST00000329468	NM_018958.2	474	Ggt/Tgt	0	not done		probablydamaging	
NPAP1		inserm.fr	GRCh37	15	24922880	24922880	+	synonymous_variant	Silent	SNP	C	T	T			CHC097T																					ENST00000329468.2:c.1866C>T	p.Ser622=	p.S622=	ENST00000329468	NM_018958.2	622	tcC/tcT	0	not done		synonymous	
NPAP1		inserm.fr	GRCh37	15	24923115	24923115	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB157T																					ENST00000329468.2:c.2101C>T	p.His701Tyr	p.H701Y	ENST00000329468	NM_018958.2	701	Cat/Tat	0	validated		benign	
NPAP1		inserm.fr	GRCh37	15	24923249	24923249	+	synonymous_variant	Silent	SNP	C	T	T			CHC2128T																					ENST00000329468.2:c.2235C>T	p.Ser745=	p.S745=	ENST00000329468	NM_018958.2	745	tcC/tcT	0	not done		synonymous	
NPAP1		inserm.fr	GRCh37	15	24924148	24924148	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1207T																					ENST00000329468.2:c.3134C>T	p.Thr1045Ile	p.T1045I	ENST00000329468	NM_018958.2	1045	aCa/aTa	0	not done		probablydamaging	
NCMAP		inserm.fr	GRCh37	1	24927474	24927474	+	synonymous_variant	Silent	SNP	C	T	T			CHC1704T																					ENST00000374392.2:c.126C>T	p.Ile42=	p.I42=	ENST00000374392	NM_001010980.4	42	atC/atT	0	not done		synonymous	
ARHGAP17		inserm.fr	GRCh37	16	24950845	24950845	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1061T																					ENST00000289968.6:c.1564G>A	p.Ala522Thr	p.A522T	ENST00000289968	NM_001006634.1	522	Gct/Act	0	validated		benign	
ACSS1		inserm.fr	GRCh37	20	24995815	24995815	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000323482.4:c.1298G>A	p.Gly433Glu	p.G433E	ENST00000323482	NM_001252675.1	433	gGg/gAg	0	not done		probablydamaging	
ACSS1		inserm.fr	GRCh37	20	25002048	25002048	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000323482.4:c.1085G>A	p.Ser362Asn	p.S362N	ENST00000323482	NM_001252675.1	362	aGc/aAc	0	not done		probablydamaging	
ACSS1		inserm.fr	GRCh37	20	25004159	25004159	+	synonymous_variant	Silent	SNP	C	T	T			CHC1065T																					ENST00000323482.4:c.750G>A	p.Val250=	p.V250=	ENST00000323482	NM_001252675.1	250	gtG/gtA	0	validated		synonymous	
LGI2		inserm.fr	GRCh37	4	25005697	25005697	+	synonymous_variant	Silent	SNP	C	T	T			CHC1611T																					ENST00000382114.4:c.1014G>A	p.Thr338=	p.T338=	ENST00000382114	NM_018176.3	338	acG/acA	0	not done		synonymous	
ADCY3		inserm.fr	GRCh37	2	25050908	25050908	+	synonymous_variant	Silent	SNP	G	T	T			CHC1725T																					ENST00000260600.5:c.2295C>A	p.Thr765=	p.T765=	ENST00000260600	NM_004036.3	765	acC/acA	0	not done		synonymous	
BCAT1		inserm.fr	GRCh37	12	25055892	25055892	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1744T																					ENST00000539282.1:c.31C>A	p.Leu11Ile	p.L11I	ENST00000539282	NM_001178093.1	11	Ctt/Att	0	not done			
VSX1		inserm.fr	GRCh37	20	25056919	25056919	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2211T																					ENST00000376709.4:c.1076C>A	p.Pro359Gln	p.P359Q	ENST00000376709	NM_014588.5	359	cCa/cAa	0	not done		possiblydamaging	
ADCY3		inserm.fr	GRCh37	2	25057740	25057740	+	synonymous_variant	Silent	SNP	C	T	T			CHC1531T																					ENST00000260600.5:c.1728G>A	p.Val576=	p.V576=	ENST00000260600	NM_004036.3	576	gtG/gtA	0	validated		synonymous	
ADCY3		inserm.fr	GRCh37	2	25064196	25064196	+	synonymous_variant	Silent	SNP	C	T	T			CHC1732T																					ENST00000260600.5:c.1128G>A	p.Leu376=	p.L376=	ENST00000260600	NM_004036.3	376	ttG/ttA	0	not done		synonymous	
CMAHP		inserm.fr	GRCh37	6	25106607	25106607	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC1183T																					ENST00000377989.4:n.1509G>A		*503*	ENST00000377989				0	not done		synonymous	
CYCS		inserm.fr	GRCh37	7	25163457	25163457	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000305786.2:c.181G>A	p.Gly61Arg	p.G61R	ENST00000305786	NM_018947.5	61	Gga/Aga	0	not done		benign	
DOCK5		inserm.fr	GRCh37	8	25167970	25167970	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC736T									Valid												ENST00000276440.7:c.1240C>T	p.Gln414Ter	p.Q414*	ENST00000276440	NM_024940.6	414	Cag/Tag	0	validated		damaging	
C7orf31		inserm.fr	GRCh37	7	25176167	25176167	+	synonymous_variant	Silent	SNP	G	T	T			CHC1545T																					ENST00000409280.1:c.1197C>A	p.Ile399=	p.I399=	ENST00000409280		399	atC/atA	0	not done		synonymous	
ENTPD6		inserm.fr	GRCh37	20	25205878	25205878	+	synonymous_variant	Silent	SNP	C	T	T			CHC437T																					ENST00000376652.4:c.1281C>T	p.Pro427=	p.P427=	ENST00000376652		427	ccC/ccT	0	not done		synonymous	
C7orf31		inserm.fr	GRCh37	7	25207942	25207942	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC898T																					ENST00000409280.1:c.277C>A	p.Gln93Lys	p.Q93K	ENST00000409280		93	Cag/Aag	0	not done		benign	
RARB		inserm.fr	GRCh37	3	25216009	25216009	+	downstream_gene_variant	3'Flank	SNP	C	T	T			CHC2098T																								ENST00000455576				0	not done		benign	
SNRPN		inserm.fr	GRCh37	15	25223390	25223390	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB307T									Valid												ENST00000400100.1:c.610G>T	p.Gly204Trp	p.G204W	ENST00000400100	NM_022807.2	204	Ggg/Tgg	0	validated		probablydamaging	
SNRPN		inserm.fr	GRCh37	15	25223433	25223433	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC313T																					ENST00000400100.1:c.653C>T	p.Pro218Leu	p.P218L	ENST00000400100	NM_022807.2	218	cCg/cTg	0	validated		probablydamaging	
AQP8		inserm.fr	GRCh37	16	25235803	25235803	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000219660.5:c.508C>T	p.Leu170=	p.L170=	ENST00000219660	NM_001169.2	170	Ctg/Ttg	0	not done		synonymous	
RUNX3		inserm.fr	GRCh37	1	25254185	25254185	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000399916.1:c.361G>A	p.Val121Met	p.V121M	ENST00000399916	NM_001031680.2	121	Gtg/Atg	0	not done		probablydamaging	
ZKSCAN2		inserm.fr	GRCh37	16	25258645	25258645	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000328086.7:c.872G>A	p.Gly291Asp	p.G291D	ENST00000328086	NM_001012981.4	291	gGt/gAt	0	not done		benign	
LRMP		inserm.fr	GRCh37	12	25260835	25260835	+	synonymous_variant	Silent	SNP	C	T	T			BCM671T																					ENST00000354454.3:c.1341C>T	p.Phe447=	p.F447=	ENST00000354454	NM_006152.3	447	ttC/ttT	0	validated		synonymous	
CASC1		inserm.fr	GRCh37	12	25263175	25263175	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC2351T																					ENST00000395987.3:c.1780-1G>A		p.X594_splice	ENST00000395987	NM_018272.3			0	not done		damaging	
CASC1		inserm.fr	GRCh37	12	25264706	25264706	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000395987.3:c.1779G>A	p.Lys593=	p.K593=	ENST00000395987	NM_018272.3	593	aaG/aaA	0	not done		damaging	
ATP12A		inserm.fr	GRCh37	13	25264785	25264785	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000218548.6:c.725G>T	p.Arg242Leu	p.R242L	ENST00000218548	NM_001185085.1	242	cGc/cTc	0	not done		probablydamaging	
SGSM1		inserm.fr	GRCh37	22	25272626	25272626	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000400359.4:c.1539C>T	p.Ser513=	p.S513=	ENST00000400359	NM_133454.2	513	tcC/tcT	0	not done		synonymous	
ATP12A		inserm.fr	GRCh37	13	25272840	25272840	+	synonymous_variant	Silent	SNP	C	T	T			CHC1569T																					ENST00000218548.6:c.1575C>T	p.Leu525=	p.L525=	ENST00000218548	NM_001185085.1	525	ctC/ctT	0	not done		synonymous	
SGSM1		inserm.fr	GRCh37	22	25294031	25294031	+	synonymous_variant	Silent	SNP	C	T	T			CHC2029T																					ENST00000400359.4:c.2280C>T	p.Asn760=	p.N760=	ENST00000400359	NM_133454.2	760	aaC/aaT	0	not done		synonymous	
SGSM1		inserm.fr	GRCh37	22	25308667	25308667	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM371T																					ENST00000400359.4:c.3041C>T	p.Pro1014Leu	p.P1014L	ENST00000400359	NM_133454.2	1014	cCc/cTc	0	validated		probablydamaging	
ABHD12		inserm.fr	GRCh37	20	25319980	25319980	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000376542.3:c.199G>A	p.Gly67Ser	p.G67S	ENST00000376542	NM_015600.4	67	Ggc/Agc	0	not done		benign	
CDCA2		inserm.fr	GRCh37	8	25327416	25327416	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2127T																					ENST00000330560.3:c.740C>T	p.Ser247Leu	p.S247L	ENST00000330560	NM_152562.2	247	tCa/tTa	0	validated		benign	
ZCCHC4		inserm.fr	GRCh37	4	25351213	25351213	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1629T																					ENST00000302874.4:c.859G>T	p.Ala287Ser	p.A287S	ENST00000302874	NM_024936.2	287	Gct/Tct	0	not done		probablydamaging	
RNF17		inserm.fr	GRCh37	13	25352458	25352458	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC2048T																					ENST00000255324.5:c.343A>T	p.Lys115Ter	p.K115*	ENST00000255324	NM_031277.2	115	Aag/Tag	0	not done		damaging	
EFR3B		inserm.fr	GRCh37	2	25355804	25355804	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000403714.3:c.1180C>T	p.Arg394Cys	p.R394C	ENST00000403714	NM_014971.1	394	Cgc/Tgc	0	not done		probablydamaging	
EFR3B		inserm.fr	GRCh37	2	25355851	25355851	+	synonymous_variant	Silent	SNP	C	T	T			CHC902T																					ENST00000403714.3:c.1227C>T	p.Ser409=	p.S409=	ENST00000403714	NM_014971.1	409	tcC/tcT	0	not done		synonymous	
EFR3B		inserm.fr	GRCh37	2	25374883	25374883	+	synonymous_variant	Silent	SNP	G	T	T			CHC432T																					ENST00000403714.3:c.2292G>T	p.Gly764=	p.G764=	ENST00000403714	NM_014971.1	764	ggG/ggT	0	not done		synonymous	
POMC		inserm.fr	GRCh37	2	25384089	25384089	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000405623.1:c.665G>A	p.Arg222Lys	p.R222K	ENST00000405623		222	aGg/aAg	0	not done		benign	
POMC		inserm.fr	GRCh37	2	25384267	25384267	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM769T																					ENST00000405623.1:c.487G>A	p.Gly163Ser	p.G163S	ENST00000405623		163	Ggc/Agc	0	validated		benign	
RNF17		inserm.fr	GRCh37	13	25419188	25419188	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000255324.5:c.3072C>T	p.Leu1024=	p.L1024=	ENST00000255324	NM_031277.2	1024	ctC/ctT	0	not done		synonymous	
KIAA1671		inserm.fr	GRCh37	22	25435723	25435723	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2127T																					ENST00000358431.3:c.2626A>T	p.Arg876Trp	p.R876W	ENST00000358431	NM_001145206.1	876	Agg/Tgg	0	not done		probablydamaging	
NINL		inserm.fr	GRCh37	20	25457005	25457005	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000278886.6:c.2922G>A	p.Arg974=	p.R974=	ENST00000278886	NM_025176.4	974	agG/agA	0	not done		synonymous	
NINL		inserm.fr	GRCh37	20	25462734	25462734	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC301T																					ENST00000278886.6:c.1680C>A	p.Asp560Glu	p.D560E	ENST00000278886	NM_025176.4	560	gaC/gaA	0	validated		possiblydamaging	
GPR158		inserm.fr	GRCh37	10	25464386	25464386	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000376351.3:c.37C>T	p.Leu13=	p.L13=	ENST00000376351	NM_020752.2	13	Ctg/Ttg	0	not done		synonymous	
GPR158		inserm.fr	GRCh37	10	25464700	25464700	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000376351.3:c.351C>T	p.Ser117=	p.S117=	ENST00000376351	NM_020752.2	117	agC/agT	0	not done		synonymous	
DNMT3A		inserm.fr	GRCh37	2	25470968	25470968	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000264709.3:c.793G>A	p.Val265Met	p.V265M	ENST00000264709	NM_175629.2	265	Gtg/Atg	0	validated		probablydamaging	
DNMT3A		inserm.fr	GRCh37	2	25472551	25472551	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000264709.3:c.640-1430G>A		*214*	ENST00000264709	NM_175629.2			0	not done			
DNMT3A		inserm.fr	GRCh37	2	25497936	25497936	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000264709.3:c.513G>A	p.Arg171=	p.R171=	ENST00000264709	NM_175629.2	171	cgG/cgA	0	not done		synonymous	
TBC1D24		inserm.fr	GRCh37	16	2550457	2550457	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM257T																					ENST00000293970.5:c.1491G>T	p.Met497Ile	p.M497I	ENST00000293970	NM_001199107.1	497	atG/atT	0	validated		probablydamaging	
DNMT3A		inserm.fr	GRCh37	2	25505446	25505446	+	synonymous_variant	Silent	SNP	C	T	T			CHC2034T																					ENST00000264709.3:c.312G>A	p.Gly104=	p.G104=	ENST00000264709	NM_175629.2	104	ggG/ggA	0	not done		synonymous	
SYF2		inserm.fr	GRCh37	1	25554726	25554726	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000236273.4:c.259G>A	p.Glu87Lys	p.E87K	ENST00000236273	NM_015484.4	87	Gaa/Aaa	0	not done		benign	
CDH2		inserm.fr	GRCh37	18	25591809	25591809	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000269141.3:c.546+1G>A		p.X182_splice	ENST00000269141	NM_001792.3			0	not done		damaging	
CDH2		inserm.fr	GRCh37	18	25591915	25591915	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1028T																					ENST00000269141.3:c.441C>A	p.Phe147Leu	p.F147L	ENST00000269141	NM_001792.3	147	ttC/ttA	0	not done		benign	
LFNG		inserm.fr	GRCh37	7	2559807	2559807	+	synonymous_variant	Silent	SNP	C	T	T			CHC789T																					ENST00000222725.5:c.312C>T	p.Arg104=	p.R104=	ENST00000222725	NM_001040167.1	104	cgC/cgT	0	not done		synonymous	
TMC2		inserm.fr	GRCh37	20	2559870	2559870	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1595T																					ENST00000358864.1:c.724G>T	p.Glu242Ter	p.E242*	ENST00000358864	NM_080751.2	242	Gaa/Taa	0	validated		damaging	
SLC34A2		inserm.fr	GRCh37	4	25664218	25664218	+	synonymous_variant	Silent	SNP	C	T	T			CHC2052T																					ENST00000382051.3:c.96C>T	p.Ser32=	p.S32=	ENST00000382051	NM_006424.2	32	agC/agT	0	not done		synonymous	
LFNG		inserm.fr	GRCh37	7	2566552	2566552	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC469T									Valid												ENST00000222725.5:c.1070C>T	p.Ser357Phe	p.S357F	ENST00000222725	NM_001040167.1	357	tCc/tTc	0	validated		probablydamaging	
CACNA1C		inserm.fr	GRCh37	12	2566834	2566834	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC884T									Valid												ENST00000347598.4:c.719G>T	p.Arg240Leu	p.R240L	ENST00000347598	NM_199460.2	240	cGc/cTc	0	validated		probablydamaging	
TOP2B		inserm.fr	GRCh37	3	25674281	25674281	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000435706.2:c.1016G>A	p.Gly339Glu	p.G339E	ENST00000435706	NM_001068.3	339	gGa/gAa	0	not done		probablydamaging	
SLC34A2		inserm.fr	GRCh37	4	25676014	25676014	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1725T																					ENST00000382051.3:c.1313C>T	p.Ser438Leu	p.S438L	ENST00000382051	NM_006424.2	438	tCg/tTg	0	not done		probablydamaging	
SLC34A2		inserm.fr	GRCh37	4	25677814	25677814	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000382051.3:c.1516C>T	p.Pro506Ser	p.P506S	ENST00000382051	NM_006424.2	506	Ccg/Tcg	0	not done		probablydamaging	
SLC34A2		inserm.fr	GRCh37	4	25678059	25678059	+	synonymous_variant	Silent	SNP	C	T	T			CHC912T																					ENST00000382051.3:c.1761C>T	p.Leu587=	p.L587=	ENST00000382051	NM_006424.2	587	ctC/ctT	0	validated		synonymous	
TMEM50A		inserm.fr	GRCh37	1	25679415	25679415	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2029T																					ENST00000374358.4:c.317G>T	p.Gly106Val	p.G106V	ENST00000374358	NM_014313.3	106	gGa/gTa	0	not done		possiblydamaging	
TOP2B		inserm.fr	GRCh37	3	25685184	25685184	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000435706.2:c.316+1G>A		p.X106_splice	ENST00000435706	NM_001068.3			0	not done		damaging	
EBF2		inserm.fr	GRCh37	8	25718851	25718851	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1756T																					ENST00000520164.1:c.1138C>A	p.Leu380Ile	p.L380I	ENST00000520164	NM_022659.3	380	Ctt/Att	0	not done		possiblydamaging	
HIST1H2AA		inserm.fr	GRCh37	6	25726671	25726671	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000297012.3:c.85G>A	p.Gly29Ser	p.G29S	ENST00000297012	NM_170745.3	29	Ggc/Agc	0	not done		probablydamaging	
TTC34		inserm.fr	GRCh37	1	2573086	2573086	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000401095.3:c.1422G>A	p.Leu474=	p.L474=	ENST00000401095	NM_001242672.1	474	ctG/ctA	0	not done		synonymous	
AMER2		inserm.fr	GRCh37	13	25743841	25743841	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000515384.1:c.1917C>A	p.Ile639=	p.I639=	ENST00000515384		639	atC/atA	0	not done		synonymous	
AMER2		inserm.fr	GRCh37	13	25743855	25743855	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000515384.1:c.1903C>A	p.Pro635Thr	p.P635T	ENST00000515384		635	Ccc/Acc	0	not done		possiblydamaging	
AMER2		inserm.fr	GRCh37	13	25744030	25744030	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000515384.1:c.1728G>A	p.Glu576=	p.E576=	ENST00000515384		576	gaG/gaA	0	not done		synonymous	
AMER2		inserm.fr	GRCh37	13	25744503	25744503	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1556T																					ENST00000515384.1:c.1255C>A	p.Gln419Lys	p.Q419K	ENST00000515384		419	Caa/Aaa	0	not done		probablydamaging	
AMER2		inserm.fr	GRCh37	13	25745174	25745174	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000515384.1:c.584G>A	p.Arg195Gln	p.R195Q	ENST00000515384		195	cGg/cAg	0	not done		possiblydamaging	
SLC17A4		inserm.fr	GRCh37	6	25770425	25770425	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1774T																					ENST00000377905.4:c.428C>T	p.Ala143Val	p.A143V	ENST00000377905	NM_005495.2	143	gCt/gTt	0	validated		benign	
NGLY1		inserm.fr	GRCh37	3	25805685	25805685	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1201T																					ENST00000280700.5:c.364G>A	p.Val122Ile	p.V122I	ENST00000280700	NM_018297.3	122	Gta/Ata	0	not done		benign	
SLC17A1		inserm.fr	GRCh37	6	25819986	25819986	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000244527.4:c.365G>A	p.Ser122Asn	p.S122N	ENST00000244527	NM_005074.3	122	aGc/aAc	0	not done		benign	
DTNB		inserm.fr	GRCh37	2	25830121	25830121	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000406818.3:c.432G>A	p.Met144Ile	p.M144I	ENST00000406818	NM_001256303.1	144	atG/atA	0	not done		benign	
LDLRAP1		inserm.fr	GRCh37	1	25883751	25883751	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM711T									Valid												ENST00000374338.4:c.452G>T	p.Arg151Leu	p.R151L	ENST00000374338	NM_015627.2	151	cGg/cTg	0	validated		probablydamaging	
GPR158		inserm.fr	GRCh37	10	25886983	25886983	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC2208T																					ENST00000376351.3:c.2428C>T	p.Arg810Ter	p.R810*	ENST00000376351	NM_020752.2	810	Cga/Tga	0	not done		damaging	
NDC80		inserm.fr	GRCh37	18	2589205	2589205	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1209T																					ENST00000261597.4:c.766G>T	p.Asp256Tyr	p.D256Y	ENST00000261597	NM_006101.2	256	Gat/Tat	0	not done		probablydamaging	
EBF2		inserm.fr	GRCh37	8	25898153	25898153	+	synonymous_variant	Silent	SNP	G	T	T			CHC051T																					ENST00000520164.1:c.387C>A	p.Leu129=	p.L129=	ENST00000520164	NM_022659.3	129	ctC/ctA	0	validated		synonymous	
LINC00692		inserm.fr	GRCh37	3	25904821	25904821	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1715T																					ENST00000451284.1:c.50G>A	p.Arg17His	p.R17H	ENST00000451284		17	cGc/cAc	0	not done			
SLC17A2		inserm.fr	GRCh37	6	25917050	25917050	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T									Valid												ENST00000360488.3:c.793C>A	p.Pro265Thr	p.P265T	ENST00000360488	NM_005835.2	265	Ccc/Acc	0	validated		probablydamaging	
KSR1		inserm.fr	GRCh37	17	25944417	25944417	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1592T																					ENST00000398988.3:c.2245C>T	p.Arg749Trp	p.R749W	ENST00000398988	NM_014238.1	749	Cgg/Tgg	0	not done		probablydamaging	
ATP10A		inserm.fr	GRCh37	15	25959308	25959308	+	synonymous_variant	Silent	SNP	G	T	T			BCB307T																					ENST00000356865.6:c.1857C>A	p.Thr619=	p.T619=	ENST00000356865	NM_024490.3	619	acC/acA	0	validated		synonymous	
ATP10A		inserm.fr	GRCh37	15	25966946	25966946	+	synonymous_variant	Silent	SNP	C	T	T			CHC1148T																					ENST00000356865.6:c.1221G>A	p.Leu407=	p.L407=	ENST00000356865	NM_024490.3	407	ctG/ctA	0	not done		synonymous	
LGALS9		inserm.fr	GRCh37	17	25974061	25974061	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM689T																					ENST00000395473.2:c.675G>T	p.Met225Ile	p.M225I	ENST00000395473	NM_009587.2	225	atG/atT	0	validated		benign	
HIST1H3B		inserm.fr	GRCh37	6	26031970	26031970	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1604T																					ENST00000244661.2:c.319G>A	p.Asp107Asn	p.D107N	ENST00000244661	NM_003537.3	107	Gac/Aac	0	not done		possiblydamaging	
CLUH		inserm.fr	GRCh37	17	2603706	2603706	+	synonymous_variant	Silent	SNP	C	T	T			CHC805T																					ENST00000570628.2:c.1122G>A	p.Glu374=	p.E374=	ENST00000570628		374	gaG/gaA	0	not done		synonymous	
KCNQ1		inserm.fr	GRCh37	11	2608880	2608880	+	synonymous_variant	Silent	SNP	C	T	T			CHC1556T																					ENST00000155840.5:c.1209C>T	p.His403=	p.H403=	ENST00000155840	NM_000218.2	403	caC/caT	0	not done		synonymous	
HFE		inserm.fr	GRCh37	6	26091742	26091742	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1035T									Valid												ENST00000357618.5:c.541G>T	p.Ala181Ser	p.A181S	ENST00000357618	NM_000410.3	181	Gcc/Tcc	0	validated		possiblydamaging	
HFE		inserm.fr	GRCh37	6	26091818	26091818	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC1757T																					ENST00000357618.5:c.616+1G>T		p.X206_splice	ENST00000357618	NM_000410.3			0	validated		damaging	
NOS2		inserm.fr	GRCh37	17	26092740	26092740	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC1534T																					ENST00000313735.6:c.2249G>A	p.Arg750His	p.R750H	ENST00000313735	NM_000625.4	750	cGt/cAt	0	validated		possiblydamaging	
NOS2		inserm.fr	GRCh37	17	26101392	26101392	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000313735.6:c.1367G>A	p.Gly456Asp	p.G456D	ENST00000313735	NM_000625.4	456	gGc/gAc	0	not done		probablydamaging	
HIST1H4C		inserm.fr	GRCh37	6	26104198	26104198	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1700T																					ENST00000377803.2:c.23G>T	p.Gly8Val	p.G8V	ENST00000377803	NM_003542.3	8	gGa/gTa	0	not done		probablydamaging	
NOS2		inserm.fr	GRCh37	17	26105971	26105971	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000313735.6:c.1116G>A	p.Trp372Ter	p.W372*	ENST00000313735	NM_000625.4	372	tgG/tgA	0	not done		damaging	
HS3ST4		inserm.fr	GRCh37	16	26146950	26146950	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000331351.5:c.752C>T	p.Thr251Ile	p.T251I	ENST00000331351	NM_006040.2	251	aCt/aTt	0	not done		probablydamaging	
HS3ST4		inserm.fr	GRCh37	16	26147314	26147314	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC892T																					ENST00000331351.5:c.1116G>T	p.Gln372His	p.Q372H	ENST00000331351	NM_006040.2	372	caG/caT	0	not done		probablydamaging	
MAGEB18		inserm.fr	GRCh37	X	26157983	26157983	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000325250.1:c.881C>T	p.Thr294Ile	p.T294I	ENST00000325250	NM_173699.3	294	aCc/aTc	0	not done		possiblydamaging	
HIST1H2BD		inserm.fr	GRCh37	6	26158595	26158595	+	synonymous_variant	Silent	SNP	C	T	T			CHC1592T																					ENST00000289316.2:c.198C>T	p.Phe66=	p.F66=	ENST00000289316	NM_138720.2	66	ttC/ttT	0	not done		synonymous	
MYO18B		inserm.fr	GRCh37	22	26168308	26168308	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000335473.7:c.1700C>T	p.Pro567Leu	p.P567L	ENST00000335473	NM_032608.5	567	cCt/cTt	0	not done		probablydamaging	
KIF3C		inserm.fr	GRCh37	2	26174677	26174677	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM531T																					ENST00000264712.3:c.1987C>A	p.Pro663Thr	p.P663T	ENST00000264712	NM_002254.6	663	Cca/Aca	0	validated		probablydamaging	
HIST1H2BE		inserm.fr	GRCh37	6	26184299	26184299	+	synonymous_variant	Silent	SNP	C	T	T			BCB167T																					ENST00000356530.3:c.276C>T	p.Ser92=	p.S92=	ENST00000356530	NM_003523.2	92	tcC/tcT	0	validated		synonymous	
HIST1H4D		inserm.fr	GRCh37	6	26189162	26189162	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1183T																					ENST00000340756.2:c.143C>A	p.Ser48Tyr	p.S48Y	ENST00000340756	NM_003539.3	48	tCt/tAt	0	not done		probablydamaging	
NFE2L3		inserm.fr	GRCh37	7	26192197	26192197	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000056233.3:c.79C>T	p.Arg27Cys	p.R27C	ENST00000056233	NM_004289.6	27	Cgc/Tgc	0	not done		probablydamaging	
HIST1H2BF		inserm.fr	GRCh37	6	26200099	26200099	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC896T																					ENST00000359985.1:c.313G>T	p.Gly105Trp	p.G105W	ENST00000359985	NM_003522.3	105	Ggg/Tgg	0	not done		probablydamaging	
KIF3C		inserm.fr	GRCh37	2	26203974	26203974	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000264712.3:c.813C>A	p.Gly271=	p.G271=	ENST00000264712	NM_002254.6	271	ggC/ggA	0	validated		synonymous	
KIF3C		inserm.fr	GRCh37	2	26204296	26204296	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000264712.3:c.491G>A	p.Arg164Lys	p.R164K	ENST00000264712	NM_002254.6	164	aGg/aAg	0	not done		benign	
NFE2L3		inserm.fr	GRCh37	7	26224908	26224908	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000056233.3:c.1590C>T	p.Asp530=	p.D530=	ENST00000056233	NM_004289.6	530	gaC/gaT	0	not done		synonymous	
MAGEB5		inserm.fr	GRCh37	X	26236189	26236189	+	synonymous_variant	Silent	SNP	C	T	T			BCM423T																					ENST00000602297.1:c.771C>T	p.Tyr257=	p.Y257=	ENST00000602297	NM_001271752.1	257	taC/taT	0	validated		synonymous	
C6orf195		inserm.fr	GRCh37	6	2623943	2623943	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000296847.3:c.114G>A	p.Gln38=	p.Q38=	ENST00000296847	NM_152554.2	38	caG/caA	0	not done		synonymous	
HIST1H2BH		inserm.fr	GRCh37	6	26252118	26252118	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000356350.2:c.240C>T	p.Arg80=	p.R80=	ENST00000356350	NM_003524.2	80	cgC/cgT	0	not done		synonymous	
HIST1H2BI		inserm.fr	GRCh37	6	26273231	26273231	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000377733.2:c.28G>T	p.Ala10Ser	p.A10S	ENST00000377733	NM_003525.2	10	Gcc/Tcc	0	not done		possiblydamaging	
MYO18B		inserm.fr	GRCh37	22	26348371	26348371	+	synonymous_variant	Silent	SNP	G	T	T			CHC327T																					ENST00000335473.7:c.5952G>T	p.Val1984=	p.V1984=	ENST00000335473	NM_032608.5	1984	gtG/gtT	0	validated		synonymous	
EXTL1		inserm.fr	GRCh37	1	26349815	26349815	+	synonymous_variant	Silent	SNP	G	T	T			CHC303T																					ENST00000374280.3:c.678G>T	p.Leu226=	p.L226=	ENST00000374280	NM_004455.2	226	ctG/ctT	0	validated		synonymous	
EXTL1		inserm.fr	GRCh37	1	26358000	26358000	+	synonymous_variant	Silent	SNP	A	T	T			CHC1154T																					ENST00000374280.3:c.1284A>T	p.Pro428=	p.P428=	ENST00000374280	NM_004455.2	428	ccA/ccT	0	not done		synonymous	
MYO18B		inserm.fr	GRCh37	22	26423071	26423071	+	synonymous_variant	Silent	SNP	G	T	T			CHC121T																					ENST00000335473.7:c.7131G>T	p.Ser2377=	p.S2377=	ENST00000335473	NM_032608.5	2377	tcG/tcT	0	validated		synonymous	
HADHA		inserm.fr	GRCh37	2	26424144	26424144	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000380649.3:c.1266G>A	p.Arg422=	p.R422=	ENST00000380649	NM_000182.4	422	agG/agA	0	not done		synonymous	
MYO3A		inserm.fr	GRCh37	10	26463331	26463331	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1611T																					ENST00000265944.5:c.4138G>T	p.Val1380Phe	p.V1380F	ENST00000265944	NM_017433.4	1380	Gtc/Ttc	0	not done		benign	
CCKAR		inserm.fr	GRCh37	4	26483407	26483407	+	synonymous_variant	Silent	SNP	G	T	T			CHC1715T																					ENST00000295589.3:c.1140C>A	p.Gly380=	p.G380=	ENST00000295589	NM_000730.2	380	ggC/ggA	0	not done		synonymous	
CCKAR		inserm.fr	GRCh37	4	26491812	26491812	+	synonymous_variant	Silent	SNP	C	T	T			CHC1742T																					ENST00000295589.3:c.78G>A	p.Thr26=	p.T26=	ENST00000295589	NM_000730.2	26	acG/acA	0	not done		synonymous	
VLDLR		inserm.fr	GRCh37	9	2651437	2651437	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000382100.3:c.2274C>T	p.Tyr758=	p.Y758=	ENST00000382100	NM_003383.3	758	taC/taT	0	not done		synonymous	
CNKSR1		inserm.fr	GRCh37	1	26515889	26515889	+	synonymous_variant	Silent	SNP	C	T	T			CHC1739T																					ENST00000361530.6:c.1992C>T	p.Ala664=	p.A664=	ENST00000361530		664	gcC/gcT	0	not done		synonymous	
GPR113		inserm.fr	GRCh37	2	26533948	26533948	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1629T																					ENST00000311519.1:c.2648T>A	p.Leu883His	p.L883H	ENST00000311519	NM_001145168.1	883	cTc/cAc	0	not done		probablydamaging	
ITPR2		inserm.fr	GRCh37	12	26571989	26571989	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000381340.3:c.7103G>A	p.Ser2368Asn	p.S2368N	ENST00000381340	NM_002223.2	2368	aGc/aAc	0	not done		probablydamaging	
SH3BGRL3		inserm.fr	GRCh37	1	26606667	26606667	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000270792.5:c.21C>T	p.Tyr7=	p.Y7=	ENST00000270792	NM_031286.3	7	taC/taT	0	validated		synonymous	
SHISA2		inserm.fr	GRCh37	13	26625032	26625032	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000319420.3:c.82G>A	p.Ala28Thr	p.A28T	ENST00000319420	NM_001007538.1	28	Gcg/Acg	0	not done		benign	
SHISA2		inserm.fr	GRCh37	13	26625068	26625068	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1211T																					ENST00000319420.3:c.46G>A	p.Ala16Thr	p.A16T	ENST00000319420	NM_001007538.1	16	Gct/Act	0	not done		benign	
AIM1L		inserm.fr	GRCh37	1	26648538	26648538	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000527815.1:c.2285G>A	p.Gly762Asp	p.G762D	ENST00000527815	NM_001039775.3	762	gGc/gAc	0	not done		possiblydamaging	
AIM1L		inserm.fr	GRCh37	1	26662679	26662679	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1079T																					ENST00000527815.1:c.1469C>A	p.Pro490His	p.P490H	ENST00000527815	NM_001039775.3	490	cCc/cAc	0	validated		probablydamaging	
AIM1L		inserm.fr	GRCh37	1	26672426	26672426	+	upstream_gene_variant	5'Flank	SNP	G	T	T			CHC1065T																								ENST00000527815	NM_001039775.3			0	validated		synonymous	
OTOF		inserm.fr	GRCh37	2	26683532	26683532	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC121T																					ENST00000272371.2:c.5796C>A	p.Asp1932Glu	p.D1932E	ENST00000272371	NM_194248.2	1932	gaC/gaA	0	validated		benign	
SEZ6L		inserm.fr	GRCh37	22	26688544	26688544	+	synonymous_variant	Silent	SNP	A	T	T			BCM489T																					ENST00000248933.6:c.267A>T	p.Ala89=	p.A89=	ENST00000248933		89	gcA/gcT	0	validated		synonymous	
OTOF		inserm.fr	GRCh37	2	26688891	26688891	+	synonymous_variant	Silent	SNP	G	T	T			BCM397T																					ENST00000272371.2:c.4554C>A	p.Ala1518=	p.A1518=	ENST00000272371	NM_194248.2	1518	gcC/gcA	0	validated		synonymous	
SEZ6L		inserm.fr	GRCh37	22	26694999	26694999	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000248933.6:c.1212C>T	p.Val404=	p.V404=	ENST00000248933		404	gtC/gtT	0	not done		synonymous	
OTOF		inserm.fr	GRCh37	2	26703656	26703656	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC1040T																					ENST00000272371.2:c.1801G>A	p.Glu601Lys	p.E601K	ENST00000272371	NM_194248.2	601	Gag/Aag	0	not done		possiblydamaging	
SEZ6L		inserm.fr	GRCh37	22	26707884	26707884	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC451T																					ENST00000248933.6:c.1832A>T	p.Asn611Ile	p.N611I	ENST00000248933		611	aAt/aTt	0	validated		probablydamaging	
SKAP2		inserm.fr	GRCh37	7	26724394	26724394	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000345317.2:c.948G>A	p.Leu316=	p.L316=	ENST00000345317	NM_003930.3	316	ttG/ttA	0	not done		synonymous	
SMCHD1		inserm.fr	GRCh37	18	2674036	2674036	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM791T									Valid												ENST00000320876.6:c.530A>T	p.Lys177Ile	p.K177I	ENST00000320876	NM_015295.2	177	aAa/aTa	0	validated		probablydamaging	
OTOF		inserm.fr	GRCh37	2	26741929	26741929	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000272371.2:c.276C>A	p.Ser92Arg	p.S92R	ENST00000272371	NM_194248.2	92	agC/agA	0	not done		benign	
ITPR2		inserm.fr	GRCh37	12	26748469	26748469	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1035T									Valid												ENST00000381340.3:c.4309G>A	p.Glu1437Lys	p.E1437K	ENST00000381340	NM_002223.2	1437	Gaa/Aaa	0	validated		probablydamaging	
ITPR2		inserm.fr	GRCh37	12	26749849	26749849	+	synonymous_variant	Silent	SNP	C	T	T			CHC1191T																					ENST00000381340.3:c.4221G>A	p.Val1407=	p.V1407=	ENST00000381340	NM_002223.2	1407	gtG/gtA	0	not done		synonymous	
TBC1D19		inserm.fr	GRCh37	4	26750054	26750054	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1611T																					ENST00000264866.4:c.1341G>T	p.Trp447Cys	p.W447C	ENST00000264866	NM_018317.2	447	tgG/tgT	0	not done		probablydamaging	
SEZ6L		inserm.fr	GRCh37	22	26773678	26773678	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000248933.6:c.2982C>T	p.Tyr994=	p.Y994=	ENST00000248933		994	taC/taT	0	not done		synonymous	
GABRB3		inserm.fr	GRCh37	15	26806224	26806224	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000311550.5:c.935G>A	p.Gly312Asp	p.G312D	ENST00000311550	NM_000814.5	312	gGc/gAc	0	not done		probablydamaging	
SLC13A2		inserm.fr	GRCh37	17	26824155	26824155	+	synonymous_variant	Silent	SNP	G	T	T			CHC1182T																					ENST00000444914.3:c.1794G>T	p.Leu598=	p.L598=	ENST00000444914	NM_001145975.1	598	ctG/ctT	0	not done		synonymous	
ITPR2		inserm.fr	GRCh37	12	26835565	26835565	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000381340.3:c.1190G>A	p.Trp397Ter	p.W397*	ENST00000381340	NM_002223.2	397	tGg/tAg	0	not done		damaging	
APBB1IP		inserm.fr	GRCh37	10	26851294	26851294	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1747T																					ENST00000376236.4:c.1409C>T	p.Pro470Leu	p.P470L	ENST00000376236	NM_019043.3	470	cCc/cTc	0	not done		possiblydamaging	
APBB1IP		inserm.fr	GRCh37	10	26851309	26851309	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1207T																					ENST00000376236.4:c.1424C>T	p.Ser475Phe	p.S475F	ENST00000376236	NM_019043.3	475	tCt/tTt	0	not done		possiblydamaging	
FOXN1		inserm.fr	GRCh37	17	26854312	26854312	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000226247.2:c.632C>T	p.Ala211Val	p.A211V	ENST00000226247	NM_003593.2	211	gCt/gTt	0	not done		benign	
FOXN1		inserm.fr	GRCh37	17	26861730	26861730	+	synonymous_variant	Silent	SNP	C	T	T			CHC1616T																					ENST00000226247.2:c.1141C>T	p.Leu381=	p.L381=	ENST00000226247	NM_003593.2	381	Ctg/Ttg	0	not done		synonymous	
FOXN1		inserm.fr	GRCh37	17	26864406	26864406	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000226247.2:c.1899C>T	p.Gly633=	p.G633=	ENST00000226247	NM_003593.2	633	ggC/ggT	0	not done		synonymous	
FOXN1		inserm.fr	GRCh37	17	26864442	26864442	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000226247.2:c.1935G>T	p.Val645=	p.V645=	ENST00000226247	NM_003593.2	645	gtG/gtT	0	validated		synonymous	
HPS4		inserm.fr	GRCh37	22	26864572	26864572	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM683T									Valid												ENST00000398145.2:c.614T>A	p.Leu205His	p.L205H	ENST00000398145	NM_022081.5	205	cTc/cAc	0	validated		probablydamaging	
GABRB3		inserm.fr	GRCh37	15	26866529	26866529	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000311550.5:c.393G>A	p.Val131=	p.V131=	ENST00000311550	NM_000814.5	131	gtG/gtA	0	not done		synonymous	
ITPR2		inserm.fr	GRCh37	12	26868766	26868766	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			BCB325T																					ENST00000381340.3:c.627G>A	p.Val209=	p.V209=	ENST00000381340	NM_002223.2	209	gtG/gtA	0	validated		synonymous	
RPS6KA1		inserm.fr	GRCh37	1	26879892	26879892	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB301T																					ENST00000531382.1:c.506C>T	p.Thr169Met	p.T169M	ENST00000531382	NM_001006665.1	169	aCg/aTg	0	validated		probablydamaging	
PIGS		inserm.fr	GRCh37	17	26883254	26883254	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1708T																					ENST00000308360.7:c.1111G>A	p.Ala371Thr	p.A371T	ENST00000308360	NM_033198.3	371	Gcc/Acc	0	not done		benign	
CDH9		inserm.fr	GRCh37	5	26885752	26885752	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1209T																					ENST00000231021.4:c.1853C>A	p.Ala618Glu	p.A618E	ENST00000231021	NM_016279.3	618	gCg/gAg	0	not done		probablydamaging	
PIGS		inserm.fr	GRCh37	17	26888601	26888601	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000308360.7:c.515G>A	p.Gly172Glu	p.G172E	ENST00000308360	NM_033198.3	172	gGg/gAg	0	not done		probablydamaging	
CDH9		inserm.fr	GRCh37	5	26902618	26902618	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM703T																					ENST00000231021.4:c.1220C>A	p.Ala407Glu	p.A407E	ENST00000231021	NM_016279.3	407	gCa/gAa	0	validated		probablydamaging	
CACNA1C		inserm.fr	GRCh37	12	2690832	2690832	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000347598.4:c.1972C>T	p.Leu658Phe	p.L658F	ENST00000347598	NM_199460.2	658	Ctc/Ttc	0	not done		benign	
NOVA1		inserm.fr	GRCh37	14	26917902	26917902	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC805T																					ENST00000539517.2:c.787G>A	p.Ala263Thr	p.A263T	ENST00000539517	NM_002515.2	263	Gca/Aca	0	not done		probablydamaging	
SDF2		inserm.fr	GRCh37	17	26976105	26976105	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC896T																					ENST00000247020.4:c.538G>A	p.Ala180Thr	p.A180T	ENST00000247020	NM_006923.3	180	Gcc/Acc	0	not done		benign	
SLC35F6		inserm.fr	GRCh37	2	26998520	26998520	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1065T																					ENST00000344420.5:c.511C>T	p.His171Tyr	p.H171Y	ENST00000344420	NM_017877.3	171	Cac/Tac	0	validated		benign	
STIM2		inserm.fr	GRCh37	4	27004565	27004565	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC805T																					ENST00000465503.1:c.820G>T	p.Glu274Ter	p.E274*	ENST00000465503		274	Gaa/Taa	0	not done		damaging	
ARID1A		inserm.fr	GRCh37	1	27023420	27023420	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1602T									Valid												ENST00000324856.7:c.526C>T	p.Gln176Ter	p.Q176*	ENST00000324856	NM_006015.4	176	Caa/Taa	0	not done		damaging	
ARID1A		inserm.fr	GRCh37	1	27023516	27023516	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC889T									Valid												ENST00000324856.7:c.622C>T	p.Pro208Ser	p.P208S	ENST00000324856	NM_006015.4	208	Ccc/Tcc	0	not done		damaging	
SUPT6H		inserm.fr	GRCh37	17	27027200	27027200	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC097T																					ENST00000314616.6:c.4571C>T	p.Pro1524Leu	p.P1524L	ENST00000314616	NM_003170.3	1524	cCt/cTt	0	not done		probablydamaging	
RAB34		inserm.fr	GRCh37	17	27042288	27042288	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000447716.1:c.609G>A	p.Trp203Ter	p.W203*	ENST00000447716	NM_001144943.1	203	tgG/tgA	0	validated		damaging	
RAB34		inserm.fr	GRCh37	17	27044642	27044642	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000447716.1:c.147-333G>A		*49*	ENST00000447716	NM_001144943.1			0	not done			
ARID1A		inserm.fr	GRCh37	1	27056214	27056214	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1040T									Valid												ENST00000324856.7:c.1210C>T	p.Gln404Ter	p.Q404*	ENST00000324856	NM_006015.4	404	Caa/Taa	0	not done		damaging	
SMCHD1		inserm.fr	GRCh37	18	2705774	2705774	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1061T																					ENST00000320876.6:c.1925A>T	p.Tyr642Phe	p.Y642F	ENST00000320876	NM_015295.2	642	tAt/tTt	0	validated		benign	
ASUN		inserm.fr	GRCh37	12	27089597	27089597	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC451T																					ENST00000261191.7:c.140T>A	p.Ile47Lys	p.I47K	ENST00000261191	NM_018164.2	47	aTa/aAa	0	validated		possiblydamaging	
ASUN		inserm.fr	GRCh37	12	27089708	27089708	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC429T																					ENST00000261191.7:c.29C>A	p.Thr10Lys	p.T10K	ENST00000261191	NM_018164.2	10	aCa/aAa	0	validated		probablydamaging	
HIST1H2AG		inserm.fr	GRCh37	6	27100853	27100853	+	start_lost	Translation_Start_Site	SNP	G	T	T			CHC793T																					ENST00000359193.2:c.3G>T	p.Met1?	p.M1?	ENST00000359193	NM_021064.4	1	atG/atT	0	validated		benign	
ARID1A		inserm.fr	GRCh37	1	27105895	27105895	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC889T									Valid												ENST00000324856.7:c.5506G>T	p.Glu1836Ter	p.E1836*	ENST00000324856	NM_006015.4	1836	Gag/Tag	0	not done		damaging	
ARID1A		inserm.fr	GRCh37	1	27106058	27106058	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC703T									Valid												ENST00000324856.7:c.5669G>T	p.Gly1890Val	p.G1890V	ENST00000324856	NM_006015.4	1890	gGg/gTg	0	validated		benign	
FGFR1OP2		inserm.fr	GRCh37	12	27110668	27110668	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1754T																					ENST00000229395.3:c.388C>T	p.His130Tyr	p.H130Y	ENST00000229395	NM_015633.2	130	Cac/Tac	0	not done		possiblydamaging	
HOXA2		inserm.fr	GRCh37	7	27140795	27140795	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000222718.5:c.681G>A	p.Glu227=	p.E227=	ENST00000222718	NM_006735.3	227	gaG/gaA	0	not done		synonymous	
HOXA3		inserm.fr	GRCh37	7	27148082	27148082	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC314T																					ENST00000396352.4:c.784C>A	p.Gln262Lys	p.Q262K	ENST00000396352	NM_030661.4	262	Cag/Aag	0	validated		possiblydamaging	
HOXA3		inserm.fr	GRCh37	7	27149881	27149881	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1915T																					ENST00000396352.4:c.379C>A	p.Pro127Thr	p.P127T	ENST00000396352	NM_030661.4	127	Cct/Act	0	validated		unknown	
DPYSL5		inserm.fr	GRCh37	2	27151191	27151191	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000288699.6:c.669G>T	p.Glu223Asp	p.E223D	ENST00000288699	NM_001253724.1	223	gaG/gaT	0	not done		possiblydamaging	
HOXA4		inserm.fr	GRCh37	7	27170159	27170159	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB325T																					ENST00000360046.5:c.194G>A	p.Gly65Asp	p.G65D	ENST00000360046	NM_002141.4	65	gGc/gAc	0	validated		benign	
HOXA5		inserm.fr	GRCh37	7	27183071	27183071	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2098T																					ENST00000222726.3:c.156G>A	p.Met52Ile	p.M52I	ENST00000222726	NM_019102.3	52	atG/atA	0	not done		probablydamaging	
KCNV2		inserm.fr	GRCh37	9	2718518	2718518	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1598T																					ENST00000382082.3:c.779A>T	p.Lys260Met	p.K260M	ENST00000382082	NM_133497.3	260	aAg/aTg	0	not done		probablydamaging	
KCNV2		inserm.fr	GRCh37	9	2718833	2718833	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1035T																					ENST00000382082.3:c.1094C>T	p.Thr365Met	p.T365M	ENST00000382082	NM_133497.3	365	aCg/aTg	0	validated		probablydamaging	
SFN		inserm.fr	GRCh37	1	27189943	27189943	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM257T																					ENST00000339276.4:c.240G>T	p.Glu80Asp	p.E80D	ENST00000339276	NM_006142.3	80	gaG/gaT	0	validated		benign	
HOXA9		inserm.fr	GRCh37	7	27204908	27204908	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM257T																					ENST00000343483.6:c.169C>A	p.Gln57Lys	p.Q57K	ENST00000343483	NM_152739.3	57	Cag/Aag	0	validated		probablydamaging	
TEK		inserm.fr	GRCh37	9	27209182	27209182	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC307T																					ENST00000380036.4:c.2639G>T	p.Gly880Val	p.G880V	ENST00000380036	NM_000459.3	880	gGa/gTa	0	validated		probablydamaging	
FLOT2		inserm.fr	GRCh37	17	27211331	27211331	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	T	T			BCM783T																					ENST00000394908.4:c.134T>A	p.Ile45Asn	p.I45N	ENST00000394908	NM_004475.2	45	aTt/aAt	0	validated		possiblydamaging	
HOXA10		inserm.fr	GRCh37	7	27213147	27213147	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1736T																					ENST00000283921.4:c.779C>A	p.Ser260Ter	p.S260*	ENST00000283921	NM_018951.3	260	tCg/tAg	0	not done		damaging	
PRSS16		inserm.fr	GRCh37	6	27216978	27216978	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000230582.3:c.437C>T	p.Ala146Val	p.A146V	ENST00000230582	NM_005865.3	146	gCc/gTc	0	not done		probablydamaging	
GPATCH3		inserm.fr	GRCh37	1	27217579	27217579	+	synonymous_variant	Silent	SNP	G	T	T			CHC303T																					ENST00000361720.5:c.1500C>A	p.Thr500=	p.T500=	ENST00000361720	NM_022078.2	500	acC/acA	0	validated		synonymous	
TEK		inserm.fr	GRCh37	9	27217744	27217744	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000380036.4:c.3050C>T	p.Thr1017Ile	p.T1017I	ENST00000380036	NM_000459.3	1017	aCc/aTc	0	not done		probablydamaging	
PRSS16		inserm.fr	GRCh37	6	27218500	27218500	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000230582.3:c.506G>T	p.Arg169Leu	p.R169L	ENST00000230582	NM_005865.3	169	cGc/cTc	0	not done		possiblydamaging	
GPATCH3		inserm.fr	GRCh37	1	27219019	27219019	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC884T																					ENST00000361720.5:c.1244G>A	p.Arg415Gln	p.R415Q	ENST00000361720	NM_022078.2	415	cGg/cAg	0	validated		probablydamaging	
GPATCH3		inserm.fr	GRCh37	1	27224167	27224167	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000361720.5:c.501G>A	p.Lys167=	p.K167=	ENST00000361720	NM_022078.2	167	aaG/aaA	0	not done		synonymous	
HOXA11		inserm.fr	GRCh37	7	27224344	27224344	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB157T																					ENST00000006015.3:c.420C>A	p.Phe140Leu	p.F140L	ENST00000006015	NM_005523.5	140	ttC/ttA	0	validated		probablydamaging	
DHRS13		inserm.fr	GRCh37	17	27229640	27229640	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2043T																					ENST00000378895.4:c.207C>A	p.Ser69Arg	p.S69R	ENST00000378895	NM_144683.3	69	agC/agA	0	validated		probablydamaging	
HOXA13		inserm.fr	GRCh37	7	27238792	27238792	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCB307T																					ENST00000222753.4:c.905G>A	p.Trp302Ter	p.W302*	ENST00000222753	NM_000522.4	302	tGg/tAg	0	validated		damaging	
WASF3		inserm.fr	GRCh37	13	27241760	27241760	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000335327.5:c.375C>T	p.Tyr125=	p.Y125=	ENST00000335327	NM_006646.5	125	taC/taT	0	not done		synonymous	
NUDC		inserm.fr	GRCh37	1	27269466	27269466	+	synonymous_variant	Silent	SNP	C	T	T			CHC912T																					ENST00000321265.5:c.651C>T	p.Ile217=	p.I217=	ENST00000321265	NM_006600.3	217	atC/atT	0	validated		synonymous	
POM121L2		inserm.fr	GRCh37	6	27277463	27277463	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000444565.1:c.2487G>A	p.Gly829=	p.G829=	ENST00000444565	NM_033482.3	829	ggG/ggA	0	not done		synonymous	
EVX1		inserm.fr	GRCh37	7	27285902	27285902	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000496902.4:c.1082C>T	p.Ala361Val	p.A361V	ENST00000496902		361	gCg/gTg	0	not done		possiblydamaging	
EQTN		inserm.fr	GRCh37	9	27289709	27289709	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000380032.3:c.442G>A	p.Val148Ile	p.V148I	ENST00000380032	NM_020641.2	148	Gtc/Atc	0	not done		benign	
EMILIN1		inserm.fr	GRCh37	2	27301972	27301972	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000380320.4:c.39C>T	p.Cys13=	p.C13=	ENST00000380320	NM_007046.3	13	tgC/tgT	0	not done		synonymous	
EMILIN1		inserm.fr	GRCh37	2	27303603	27303603	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000380320.4:c.294C>T	p.Tyr98=	p.Y98=	ENST00000380320	NM_007046.3	98	taC/taT	0	not done		synonymous	
EMILIN1		inserm.fr	GRCh37	2	27303620	27303620	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM337T									Valid												ENST00000380320.4:c.311C>T	p.Pro104Leu	p.P104L	ENST00000380320	NM_007046.3	104	cCt/cTt	0	validated		probablydamaging	
ANKRD26		inserm.fr	GRCh37	10	27313376	27313376	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000376087.4:c.4085G>A	p.Gly1362Glu	p.G1362E	ENST00000376087	NM_014915.2	1362	gGa/gAa	0	not done		benign	
SLC39A3		inserm.fr	GRCh37	19	2732937	2732937	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000269740.4:c.757G>A	p.Ala253Thr	p.A253T	ENST00000269740	NM_144564.4	253	Gcc/Acc	0	validated		benign	
C2orf53		inserm.fr	GRCh37	2	27360713	27360713	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB231T									Valid												ENST00000335524.3:c.485C>A	p.Pro162His	p.P162H	ENST00000335524	NM_178553.3	162	cCc/cAc	0	validated		probablydamaging	
C2orf53		inserm.fr	GRCh37	2	27361071	27361071	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000335524.3:c.127G>A	p.Gly43Ser	p.G43S	ENST00000335524	NM_178553.3	43	Ggc/Agc	0	not done		benign	
IL4R		inserm.fr	GRCh37	16	27373773	27373773	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1763T																					ENST00000395762.2:c.1100C>T	p.Ala367Val	p.A367V	ENST00000395762	NM_000418.3	367	gCc/gTc	0	not done		probablydamaging	
ZNF184		inserm.fr	GRCh37	6	27419509	27419509	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM423T																					ENST00000211936.6:c.1829G>A	p.Gly610Glu	p.G610E	ENST00000211936	NM_007149.2	610	gGa/gAa	0	validated		probablydamaging	
MYO18A		inserm.fr	GRCh37	17	27424244	27424244	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000527372.1:c.4227G>A	p.Arg1409=	p.R1409=	ENST00000527372	NM_078471.3	1409	cgG/cgA	0	not done		synonymous	
CAD		inserm.fr	GRCh37	2	27444110	27444110	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM375T																					ENST00000264705.4:c.247G>T	p.Val83Leu	p.V83L	ENST00000264705	NM_004341.3	83	Gta/Tta	0	validated		benign	
CAD		inserm.fr	GRCh37	2	27454390	27454390	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM617T																					ENST00000264705.4:c.2342G>T	p.Arg781Leu	p.R781L	ENST00000264705	NM_004341.3	781	cGc/cTc	0	validated		probablydamaging	
MASTL		inserm.fr	GRCh37	10	27454410	27454410	+	synonymous_variant	Silent	SNP	C	T	T			CHC051T																					ENST00000375940.4:c.753C>T	p.Cys251=	p.C251=	ENST00000375940		251	tgC/tgT	0	validated		synonymous	
MASTL		inserm.fr	GRCh37	10	27459020	27459020	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC799T																					ENST00000375940.4:c.1132C>T	p.Leu378Phe	p.L378F	ENST00000375940		378	Ctt/Ttt	0	not done		benign	
IL21R		inserm.fr	GRCh37	16	27460435	27460435	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000337929.3:c.1448C>T	p.Ala483Val	p.A483V	ENST00000337929	NM_181078.2	483	gCc/gTc	0	not done		benign	
IL21R		inserm.fr	GRCh37	16	27460514	27460514	+	synonymous_variant	Silent	SNP	C	T	T			CHC1185T																					ENST00000337929.3:c.1527C>T	p.Ser509=	p.S509=	ENST00000337929	NM_181078.2	509	agC/agT	0	not done		synonymous	
CAD		inserm.fr	GRCh37	2	27460601	27460601	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1592T																					ENST00000264705.4:c.4579G>T	p.Ala1527Ser	p.A1527S	ENST00000264705	NM_004341.3	1527	Gcc/Tcc	0	not done		benign	
SLC30A3		inserm.fr	GRCh37	2	27480922	27480922	+	synonymous_variant	Silent	SNP	A	T	T			CHC1629T																					ENST00000233535.4:c.429T>A	p.Thr143=	p.T143=	ENST00000233535	NM_003459.4	143	acT/acA	0	not done		synonymous	
IRX2		inserm.fr	GRCh37	5	2748996	2748996	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB111T																					ENST00000382611.6:c.826G>A	p.Gly276Ser	p.G276S	ENST00000382611	NM_001134222.1	276	Ggc/Agc	0	validated		benign	
GTF3C1		inserm.fr	GRCh37	16	27492506	27492506	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000356183.4:c.4090G>A	p.Ala1364Thr	p.A1364T	ENST00000356183	NM_001520.3	1364	Gcc/Acc	0	not done		probablydamaging	
ACBD5		inserm.fr	GRCh37	10	27497286	27497286	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000396271.3:c.1293G>A	p.Gly431=	p.G431=	ENST00000396271	NM_145698.3	431	ggG/ggA	0	not done		synonymous	
IRX2		inserm.fr	GRCh37	5	2749766	2749766	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000382611.6:c.385C>A	p.Leu129Ile	p.L129I	ENST00000382611	NM_001134222.1	129	Ctc/Atc	0	not done		probablydamaging	
TRIM54		inserm.fr	GRCh37	2	27505671	27505671	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000296098.4:c.72C>T	p.Leu24=	p.L24=	ENST00000296098	NM_032546.3	24	ctC/ctT	0	not done		synonymous	
GTF3C1		inserm.fr	GRCh37	16	27518325	27518325	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000356183.4:c.1395G>A	p.Ser465=	p.S465=	ENST00000356183	NM_001520.3	465	tcG/tcA	0	not done		synonymous	
SCARA3		inserm.fr	GRCh37	8	27528584	27528584	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1209T																					ENST00000301904.3:c.1537G>T	p.Val513Phe	p.V513F	ENST00000301904	NM_016240.2	513	Gtt/Ttt	0	not done		benign	
UCN		inserm.fr	GRCh37	2	27530728	27530728	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000296099.2:c.36G>A	p.Ala12=	p.A12=	ENST00000296099	NM_003353.2	12	gcG/gcA	0	not done		synonymous	
GTF3C2		inserm.fr	GRCh37	2	27552273	27552273	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM257T																					ENST00000359541.2:c.1850G>A	p.Arg617His	p.R617H	ENST00000359541		617	cGt/cAt	0	validated		probablydamaging	
BMAL2		inserm.fr	GRCh37	12	27554572	27554572	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC917T																					ENST00000266503.5:c.1383A>T	p.Glu461Asp	p.E461D	ENST00000266503		461	gaA/gaT	0	validated		benign	
GTF3C2		inserm.fr	GRCh37	2	27559189	27559189	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1081T																					ENST00000359541.2:c.1231G>A	p.Ala411Thr	p.A411T	ENST00000359541		411	Gcc/Acc	0	validated		benign	
HIBADH		inserm.fr	GRCh37	7	27570822	27570822	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2048T																					ENST00000265395.2:c.841C>A	p.Leu281Ile	p.L281I	ENST00000265395	NM_152740.3	281	Ctc/Atc	0	not done		possiblydamaging	
CRYBA1		inserm.fr	GRCh37	17	27579210	27579210	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000225387.3:c.344C>T	p.Pro115Leu	p.P115L	ENST00000225387	NM_005208.4	115	cCc/cTc	0	not done		possiblydamaging	
EIF2B4		inserm.fr	GRCh37	2	27593174	27593174	+	upstream_gene_variant	5'Flank	SNP	G	T	T			CHC1739T																								ENST00000233575	NM_001267059.1			0	not done		benign	
SNX17		inserm.fr	GRCh37	2	27593647	27593647	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1743T																					ENST00000233575.2:c.37G>T	p.Gly13Trp	p.G13W	ENST00000233575	NM_001267059.1	13	Ggg/Tgg	0	not done		probablydamaging	
PPM1G		inserm.fr	GRCh37	2	27609142	27609142	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000344034.4:c.195G>A	p.Glu65=	p.E65=	ENST00000344034	NM_177983.2	65	gaG/gaA	0	not done		synonymous	
NRBP1		inserm.fr	GRCh37	2	27656890	27656890	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1568T																					ENST00000233557.3:c.368A>T	p.Gln123Leu	p.Q123L	ENST00000233557		123	cAa/cTa	0	not done		benign	
BDNF		inserm.fr	GRCh37	11	27695800	27695800	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000438929.1:c.32G>A	p.Cys11Tyr	p.C11Y	ENST00000438929	NM_001143810.1	11	tGc/tAc	0	validated		benign	
FCN3		inserm.fr	GRCh37	1	27699675	27699675	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000270879.4:c.345G>A	p.Arg115=	p.R115=	ENST00000270879	NM_003665.2	115	agG/agA	0	not done		synonymous	
FCN3		inserm.fr	GRCh37	1	27700911	27700911	+	synonymous_variant	Silent	SNP	G	T	T			CHC121T																					ENST00000270879.4:c.123C>A	p.Val41=	p.V41=	ENST00000270879	NM_003665.2	41	gtC/gtA	0	validated		synonymous	
PTCHD3		inserm.fr	GRCh37	10	27702619	27702619	+	synonymous_variant	Silent	SNP	G	T	T			CHC097T																					ENST00000438700.3:c.561C>A	p.Gly187=	p.G187=	ENST00000438700	NM_001034842.3	187	ggC/ggA	0	not done		synonymous	
CD164L2		inserm.fr	GRCh37	1	27709039	27709039	+	synonymous_variant	Silent	SNP	C	T	T			CHC1591T																					ENST00000374027.3:c.207G>A	p.Ala69=	p.A69=	ENST00000374027	NM_207397.2	69	gcG/gcA	0	not done		synonymous	
KIAA0556		inserm.fr	GRCh37	16	27715280	27715280	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1611T																					ENST00000261588.4:c.1350G>T	p.Arg450Ser	p.R450S	ENST00000261588	NM_015202.2	450	agG/agT	0	not done		benign	
GCKR		inserm.fr	GRCh37	2	27724006	27724006	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC306T									Valid												ENST00000264717.2:c.554C>T	p.Pro185Leu	p.P185L	ENST00000264717	NM_001486.3	185	cCc/cTc	0	validated		probablydamaging	
EOMES		inserm.fr	GRCh37	3	27760112	27760112	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM337T																					ENST00000295743.4:c.1345C>A	p.Pro449Thr	p.P449T	ENST00000295743	NM_005442.3	449	Ccc/Acc	0	validated		probablydamaging	
SCARA5		inserm.fr	GRCh37	8	27762299	27762299	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1747T																					ENST00000354914.3:c.1149T>A	p.Asp383Glu	p.D383E	ENST00000354914	NM_173833.5	383	gaT/gaA	0	not done		benign	
KIAA0556		inserm.fr	GRCh37	16	27763082	27763082	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1083T																					ENST00000261588.4:c.3389A>T	p.Asp1130Val	p.D1130V	ENST00000261588	NM_015202.2	1130	gAt/gTt	0	validated		probablydamaging	
HIST1H4J		inserm.fr	GRCh37	6	27792050	27792050	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1183T																					ENST00000355057.1:c.148C>T	p.Leu50Phe	p.L50F	ENST00000355057	NM_021968.3	50	Ctc/Ttc	0	not done		possiblydamaging	
C2orf16		inserm.fr	GRCh37	2	27803394	27803394	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC302T																					ENST00000408964.2:c.3955G>T	p.Ala1319Ser	p.A1319S	ENST00000408964	NM_032266.3	1319	Gca/Tca	0	validated		benign	
MAGEB10		inserm.fr	GRCh37	X	27840418	27840418	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000356790.2:c.995C>T	p.Ala332Val	p.A332V	ENST00000356790	NM_182506.3	332	gCc/gTc	0	not done		benign	
GPN1		inserm.fr	GRCh37	2	27852299	27852299	+	intron_variant	Intron	SNP	G	T	T			CHC2358T																					ENST00000264718.3:c.153+263G>T		*51*	ENST00000264718				0	validated			
CACNA1C		inserm.fr	GRCh37	12	2786963	2786963	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000347598.4:c.5165C>T	p.Thr1722Ile	p.T1722I	ENST00000347598	NM_199460.2	1722	aCc/aTc	0	not done		benign	
SLC4A1AP		inserm.fr	GRCh37	2	27886733	27886733	+	synonymous_variant	Silent	SNP	C	T	T			CHC1725T																					ENST00000326019.6:c.114C>T	p.Thr38=	p.T38=	ENST00000326019	NM_018158.2	38	acC/acT	0	not done		synonymous	
SLC4A1AP		inserm.fr	GRCh37	2	27887307	27887307	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC097T																					ENST00000326019.6:c.688G>T	p.Gly230Cys	p.G230C	ENST00000326019	NM_018158.2	230	Ggc/Tgc	0	not done		probablydamaging	
TP53I13		inserm.fr	GRCh37	17	27899684	27899684	+	synonymous_variant	Silent	SNP	G	T	T			CHC961T																					ENST00000301057.7:c.1038G>T	p.Gly346=	p.G346=	ENST00000301057	NM_138349.2	346	ggG/ggT	0	validated		synonymous	
GIT1		inserm.fr	GRCh37	17	27903566	27903566	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1209T																					ENST00000394869.3:c.1381G>A	p.Asp461Asn	p.D461N	ENST00000394869	NM_001085454.1	461	Gac/Aac	0	not done		possiblydamaging	
GIT1		inserm.fr	GRCh37	17	27903626	27903626	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC303T									Valid												ENST00000394869.3:c.1321G>A	p.Ala441Thr	p.A441T	ENST00000394869	NM_001085454.1	441	Gcc/Acc	0	validated		possiblydamaging	
ANKRD13B		inserm.fr	GRCh37	17	27920726	27920726	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000394859.3:c.87G>T	p.Glu29Asp	p.E29D	ENST00000394859	NM_152345.4	29	gaG/gaT	0	not done		benign	
NUGGC		inserm.fr	GRCh37	8	27922212	27922212	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1207T																					ENST00000413272.2:c.748C>A	p.Arg250Ser	p.R250S	ENST00000413272	NM_001010906.1	250	Cgc/Agc	0	not done		probablydamaging	
ANKRD13B		inserm.fr	GRCh37	17	27940406	27940406	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000394859.3:c.1687C>T	p.Pro563Ser	p.P563S	ENST00000394859	NM_152345.4	563	Ccc/Tcc	0	not done		benign	
CORO6		inserm.fr	GRCh37	17	27944608	27944608	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000345068.5:c.663G>A	p.Arg221=	p.R221=	ENST00000345068		221	agG/agA	0	not done		synonymous	
LINGO2		inserm.fr	GRCh37	9	27949012	27949012	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T									Valid												ENST00000379992.2:c.1658T>A	p.Leu553Gln	p.L553Q	ENST00000379992	NM_152570.2	553	cTg/cAg	0	validated		probablydamaging	
LINGO2		inserm.fr	GRCh37	9	27949356	27949356	+	synonymous_variant	Silent	SNP	C	T	T			CHC1616T																					ENST00000379992.2:c.1314G>A	p.Pro438=	p.P438=	ENST00000379992	NM_152570.2	438	ccG/ccA	0	not done		synonymous	
CORO6		inserm.fr	GRCh37	17	27949881	27949881	+	5_prime_UTR_variant	5'UTR	SNP	G	T	T			CHC1611T																					ENST00000345068.5:c.-178C>A		*60*	ENST00000345068				0	not done		synonymous	
LINGO2		inserm.fr	GRCh37	9	27950583	27950583	+	synonymous_variant	Silent	SNP	G	T	T			CHC432T																					ENST00000379992.2:c.87C>A	p.Pro29=	p.P29=	ENST00000379992	NM_152570.2	29	ccC/ccA	0	not done		synonymous	
SSH2		inserm.fr	GRCh37	17	27957874	27957874	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1531T																					ENST00000269033.3:c.4257C>A	p.Phe1419Leu	p.F1419L	ENST00000269033	NM_033389.2	1419	ttC/ttA	0	not done		benign	
C20orf141		inserm.fr	GRCh37	20	2795964	2795964	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000380589.4:c.134C>T	p.Ala45Val	p.A45V	ENST00000380589	NM_080739.2	45	gCc/gTc	0	not done		possiblydamaging	
CSMD1		inserm.fr	GRCh37	8	2796207	2796207	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1594T																					ENST00000537824.1:c.10595C>A	p.Ala3532Glu	p.A3532E	ENST00000537824	NM_033225.5	3532	gCa/gAa	0	not done		probablydamaging	
NLRP6		inserm.fr	GRCh37	11	280121	280121	+	synonymous_variant	Silent	SNP	G	T	T			CHC1055T																					ENST00000312165.5:c.387G>T	p.Leu129=	p.L129=	ENST00000312165	NM_001276700.1	129	ctG/ctT	0	validated		synonymous	
KIF18A		inserm.fr	GRCh37	11	28080572	28080572	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2034T																					ENST00000263181.6:c.1849G>A	p.Ala617Thr	p.A617T	ENST00000263181	NM_031217.3	617	Gct/Act	0	not done		probablydamaging	
KIAA0020		inserm.fr	GRCh37	9	2810419	2810419	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000397885.2:c.1648G>A	p.Glu550Lys	p.E550K	ENST00000397885	NM_014878.4	550	Gaa/Aaa	0	not done		probablydamaging	
CSMD1		inserm.fr	GRCh37	8	2813212	2813212	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			BCM567T																					ENST00000537824.1:c.9893T>A	p.Leu3298Ter	p.L3298*	ENST00000537824	NM_033225.5	3298	tTa/tAa	0	validated		damaging	
MN1		inserm.fr	GRCh37	22	28147001	28147001	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000302326.4:c.3865G>A	p.Val1289Met	p.V1289M	ENST00000302326	NM_002430.2	1289	Gtg/Atg	0	validated		probablydamaging	
SRRM2		inserm.fr	GRCh37	16	2814944	2814944	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1053T																					ENST00000301740.8:c.4415C>T	p.Thr1472Met	p.T1472M	ENST00000301740	NM_016333.3	1472	aCg/aTg	0	validated		probablydamaging	
LNX2		inserm.fr	GRCh37	13	28155464	28155464	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000316334.3:c.377G>A	p.Arg126His	p.R126H	ENST00000316334	NM_153371.3	126	cGt/cAt	0	not done		probablydamaging	
THEMIS2		inserm.fr	GRCh37	1	28206404	28206404	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000373921.3:c.485C>T	p.Ser162Phe	p.S162F	ENST00000373921	NM_001105556.1	162	tCc/tTc	0	not done		probablydamaging	
CSMD1		inserm.fr	GRCh37	8	2820811	2820811	+	synonymous_variant	Silent	SNP	G	T	T			CHC1725T																					ENST00000537824.1:c.9387C>A	p.Leu3129=	p.L3129=	ENST00000537824	NM_033225.5	3129	ctC/ctA	0	not done		synonymous	
ADAMTS1		inserm.fr	GRCh37	21	28212751	28212751	+	synonymous_variant	Silent	SNP	G	T	T			CHC1629T																					ENST00000284984.3:c.1509C>A	p.Ala503=	p.A503=	ENST00000284984	NM_006988.3	503	gcC/gcA	0	not done		synonymous	
ADAMTS1		inserm.fr	GRCh37	21	28216797	28216797	+	synonymous_variant	Silent	SNP	C	T	T			CHC465T																					ENST00000284984.3:c.477G>A	p.Gln159=	p.Q159=	ENST00000284984	NM_006988.3	159	caG/caA	0	validated		synonymous	
CSMD1		inserm.fr	GRCh37	8	2823429	2823429	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000537824.1:c.9148G>A	p.Gly3050Arg	p.G3050R	ENST00000537824	NM_033225.5	3050	Ggg/Agg	0	not done		probablydamaging	
BRE		inserm.fr	GRCh37	2	28248196	28248196	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000344773.2:c.404G>T	p.Ser135Ile	p.S135I	ENST00000344773	NM_004899.4	135	aGc/aTc	0	not done		probablydamaging	
PGBD1		inserm.fr	GRCh37	6	28269148	28269148	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2034T																					ENST00000405948.2:c.1517A>T	p.His506Leu	p.H506L	ENST00000405948	NM_001184743.1	506	cAc/cTc	0	not done		probablydamaging	
PGBD1		inserm.fr	GRCh37	6	28269493	28269493	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1741T																					ENST00000405948.2:c.1862C>T	p.Pro621Leu	p.P621L	ENST00000405948	NM_001184743.1	621	cCc/cTc	0	not done		probablydamaging	
FBXO16		inserm.fr	GRCh37	8	28309829	28309829	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000380254.2:c.672G>A	p.Lys224=	p.K224=	ENST00000380254	NM_172366.3	224	aaG/aaA	0	not done		synonymous	
CSMD1		inserm.fr	GRCh37	8	2832070	2832070	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000537824.1:c.8643G>A	p.Val2881=	p.V2881=	ENST00000537824	NM_033225.5	2881	gtG/gtA	0	not done		synonymous	
FBXO16		inserm.fr	GRCh37	8	28321218	28321218	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000380254.2:c.253G>A	p.Ala85Thr	p.A85T	ENST00000380254	NM_172366.3	85	Gcc/Acc	0	not done		possiblydamaging	
ZNF554		inserm.fr	GRCh37	19	2832392	2832392	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1148T																					ENST00000317243.5:c.345G>T	p.Trp115Cys	p.W115C	ENST00000317243	NM_001102651.1	115	tgG/tgT	0	not done		probablydamaging	
OCA2		inserm.fr	GRCh37	15	28326984	28326984	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2111T																					ENST00000354638.3:c.37G>A	p.Gly13Ser	p.G13S	ENST00000354638	NM_000275.2	13	Ggc/Agc	0	not done		benign	
ZKSCAN3		inserm.fr	GRCh37	6	28327532	28327532	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC909T																					ENST00000377255.3:c.169G>T	p.Ala57Ser	p.A57S	ENST00000377255	NM_001242894.1	57	Gct/Tct	0	not done		probablydamaging	
SH3BP2		inserm.fr	GRCh37	4	2833368	2833368	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC801T																					ENST00000503393.2:c.1483G>T	p.Asp495Tyr	p.D495Y	ENST00000503393	NM_001145856.1	495	Gac/Tac	0	not done		probablydamaging	
ADAMTS5		inserm.fr	GRCh37	21	28338364	28338364	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000284987.5:c.347C>A	p.Ala116Glu	p.A116E	ENST00000284987	NM_007038.3	116	gCa/gAa	0	not done		benign	
PRSS33		inserm.fr	GRCh37	16	2834656	2834656	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC322T																					ENST00000293851.5:c.832G>A	p.Val278Ile	p.V278I	ENST00000293851	NM_152891.2	278	Gtc/Atc	0	validated		benign	
ZSCAN12		inserm.fr	GRCh37	6	28350319	28350319	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM783T																					ENST00000361028.1:c.1762C>A	p.Leu588Ile	p.L588I	ENST00000361028		588	Ctc/Atc	0	validated			
HERC2		inserm.fr	GRCh37	15	28377262	28377262	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261609.7:c.12554G>A	p.Cys4185Tyr	p.C4185Y	ENST00000261609	NM_004667.5	4185	tGt/tAt	0	not done		probablydamaging	
SERPINB1		inserm.fr	GRCh37	6	2840750	2840750	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC121T									Valid												ENST00000380739.5:c.71C>A	p.Pro24Gln	p.P24Q	ENST00000380739	NM_030666.3	24	cCg/cAg	0	validated		probablydamaging	
MPP7		inserm.fr	GRCh37	10	28409527	28409527	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000337532.5:c.686G>A	p.Gly229Asp	p.G229D	ENST00000337532	NM_173496.3	229	gGc/gAc	0	not done		benign	
HERC2		inserm.fr	GRCh37	15	28427562	28427562	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000261609.7:c.8922G>A	p.Gly2974=	p.G2974=	ENST00000261609	NM_004667.5	2974	ggG/ggA	0	not done		synonymous	
HERC2		inserm.fr	GRCh37	15	28447282	28447282	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1714T																					ENST00000261609.7:c.7594G>A	p.Val2532Met	p.V2532M	ENST00000261609	NM_004667.5	2532	Gtg/Atg	0	not done		benign	
GPX6		inserm.fr	GRCh37	6	28472152	28472152	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC451T																					ENST00000361902.1:c.583G>A	p.Val195Ile	p.V195I	ENST00000361902	NM_182701.1	195	Gtc/Atc	0	validated		benign	
HERC2		inserm.fr	GRCh37	15	28473501	28473501	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261609.7:c.5327G>A	p.Ser1776Asn	p.S1776N	ENST00000261609	NM_004667.5	1776	aGc/aAc	0	not done		probablydamaging	
GPX6		inserm.fr	GRCh37	6	28478656	28478656	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1180T																					ENST00000361902.1:c.113G>A	p.Gly38Asp	p.G38D	ENST00000361902	NM_182701.1	38	gGc/gAc	0	validated		benign	
GPX6		inserm.fr	GRCh37	6	28483503	28483503	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000361902.1:c.18G>A	p.Gln6=	p.Q6=	ENST00000361902	NM_182701.1	6	caG/caA	0	not done		synonymous	
PDX1		inserm.fr	GRCh37	13	28494302	28494302	+	synonymous_variant	Silent	SNP	G	T	T			CHC2043T																					ENST00000381033.4:c.27G>T	p.Ala9=	p.A9=	ENST00000381033	NM_000209.3	9	gcG/gcT	0	not done		synonymous	
APOBR		inserm.fr	GRCh37	16	28506483	28506483	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB301T																					ENST00000564831.1:c.121G>T	p.Ala41Ser	p.A41S	ENST00000564831	NM_018690.3	41	Gcg/Tcg	0	validated		probablydamaging	
HERC2		inserm.fr	GRCh37	15	28517454	28517454	+	synonymous_variant	Silent	SNP	G	T	T			CHC891T																					ENST00000261609.7:c.990C>A	p.Ala330=	p.A330=	ENST00000261609	NM_004667.5	330	gcC/gcA	0	not done		synonymous	
ATP5EP2		inserm.fr	GRCh37	13	28519419	28519419	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000381026.3:c.23C>T	p.Ala8Val	p.A8V	ENST00000381026		8	gCt/gTt	0	not done			
PRHOXNB		inserm.fr	GRCh37	13	28552284	28552284	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1209T																					ENST00000332715.5:c.481C>A	p.Arg161Ser	p.R161S	ENST00000332715	NM_001105577.1	161	Cgc/Agc	0	not done		probablydamaging	
URAD		inserm.fr	GRCh37	13	28552363	28552363	+	synonymous_variant	Silent	SNP	C	T	T			CHC1569T																					ENST00000332715.5:c.402G>A	p.Glu134=	p.E134=	ENST00000332715	NM_001105577.1	134	gaG/gaA	0	not done		synonymous	
DSC3		inserm.fr	GRCh37	18	28588430	28588430	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM567T																					ENST00000360428.4:c.1325C>A	p.Pro442Gln	p.P442Q	ENST00000360428	NM_001941.3	442	cCa/cAa	0	validated		possiblydamaging	
FLT3		inserm.fr	GRCh37	13	28631598	28631598	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC902T																					ENST00000241453.7:c.370G>A	p.Gly124Arg	p.G124R	ENST00000241453	NM_004119.2	124	Gga/Aga	0	not done		damaging	
TMIGD1		inserm.fr	GRCh37	17	28645882	28645882	+	synonymous_variant	Silent	SNP	C	T	T			CHC1186T																					ENST00000328886.4:c.690G>A	p.Val230=	p.V230=	ENST00000328886	NM_206832.1	230	gtG/gtA	0	not done		synonymous	
ARSE		inserm.fr	GRCh37	X	2867679	2867679	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000381134.3:c.520C>A	p.Pro174Thr	p.P174T	ENST00000381134	NM_000047.2	174	Cct/Act	0	not done		possiblydamaging	
PRSS21		inserm.fr	GRCh37	16	2868785	2868785	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1754T																					ENST00000005995.3:c.365C>T	p.Ser122Leu	p.S122L	ENST00000005995		122	tCg/tTg	0	not done		possiblydamaging	
PRSS21		inserm.fr	GRCh37	16	2871465	2871465	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000005995.3:c.804C>T	p.Pro268=	p.P268=	ENST00000005995		268	ccC/ccT	0	not done		synonymous	
DSC1		inserm.fr	GRCh37	18	28728518	28728518	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1028T																					ENST00000257198.5:c.715G>A	p.Ala239Thr	p.A239T	ENST00000257198	NM_024421.2	239	Gcc/Acc	0	not done		probablydamaging	
EIF3C		inserm.fr	GRCh37	16	28734632	28734632	+	synonymous_variant	Silent	SNP	G	T	T			CHC961T																					ENST00000331666.6:c.924G>T	p.Val308=	p.V308=	ENST00000331666		308	gtG/gtT	0	validated		synonymous	
ZG16B		inserm.fr	GRCh37	16	2881827	2881827	+	synonymous_variant	Silent	SNP	C	T	T			CHC1720T																					ENST00000382280.3:c.294C>T	p.Asp98=	p.D98=	ENST00000382280	NM_145252.2	98	gaC/gaT	0	not done		synonymous	
WAC		inserm.fr	GRCh37	10	28822951	28822951	+	synonymous_variant	Silent	SNP	G	T	T			CHC1035T																					ENST00000354911.4:c.66G>T	p.Ser22=	p.S22=	ENST00000354911	NM_016628.4	22	tcG/tcT	0	validated		synonymous	
ATXN2L		inserm.fr	GRCh37	16	28842014	28842014	+	synonymous_variant	Silent	SNP	C	T	T			CHC1598T																					ENST00000395547.2:c.1113C>T	p.Gly371=	p.G371=	ENST00000395547	NM_148414.2	371	ggC/ggT	0	not done		synonymous	
ATXN2L		inserm.fr	GRCh37	16	28842331	28842331	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1756T																					ENST00000395547.2:c.1259A>T	p.Lys420Met	p.K420M	ENST00000395547	NM_148414.2	420	aAg/aTg	0	not done		probablydamaging	
CREB5		inserm.fr	GRCh37	7	28843930	28843930	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1205T																					ENST00000357727.2:c.817C>T	p.His273Tyr	p.H273Y	ENST00000357727	NM_182898.2	273	Cac/Tac	0	not done		probablydamaging	
TUFM		inserm.fr	GRCh37	16	28857539	28857539	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC314T									Valid												ENST00000313511.3:c.52G>A	p.Gly18Ser	p.G18S	ENST00000313511	NM_003321.4	18	Ggt/Agt	0	validated		probablydamaging	
EMILIN2		inserm.fr	GRCh37	18	2891039	2891039	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1028T																					ENST00000254528.3:c.914C>T	p.Thr305Met	p.T305M	ENST00000254528	NM_032048.2	305	aCg/aTg	0	not done		probablydamaging	
RABEP2		inserm.fr	GRCh37	16	28925790	28925790	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000358201.4:c.661G>A	p.Ala221Thr	p.A221T	ENST00000358201	NM_024816.2	221	Gct/Act	0	not done		probablydamaging	
FLT1		inserm.fr	GRCh37	13	28931798	28931798	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000282397.4:c.2141G>A	p.Ser714Asn	p.S714N	ENST00000282397	NM_002019.4	714	aGc/aAc	0	not done		possiblydamaging	
KIF13B		inserm.fr	GRCh37	8	28956714	28956714	+	synonymous_variant	Silent	SNP	G	T	T			BCM683T																					ENST00000524189.1:c.4260C>A	p.Ser1420=	p.S1420=	ENST00000524189	NM_015254.3	1420	tcC/tcA	0	validated		synonymous	
FLT1		inserm.fr	GRCh37	13	28959028	28959028	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1611T																					ENST00000282397.4:c.2110G>A	p.Glu704Lys	p.E704K	ENST00000282397	NM_002019.4	704	Gag/Aag	0	not done		possiblydamaging	
TRIL		inserm.fr	GRCh37	7	28995334	28995334	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC892T																					ENST00000322982.3:n.2601G>A		*867*	ENST00000322982				0	not done		probablydamaging	
TRIL		inserm.fr	GRCh37	7	28996113	28996113	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC892T																					ENST00000322982.3:n.1822G>A		*608*	ENST00000322982				0	not done		benign	
PRSS22		inserm.fr	GRCh37	16	2903230	2903230	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1040T																					ENST00000161006.3:c.818G>A	p.Gly273Glu	p.G273E	ENST00000161006	NM_022119.3	273	gGg/gAg	0	not done		probablydamaging	
GMEB1		inserm.fr	GRCh37	1	29040931	29040931	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000294409.2:c.1368G>T	p.Lys456Asn	p.K456N	ENST00000294409	NM_006582.3	456	aaG/aaT	0	not done		possiblydamaging	
DSG3		inserm.fr	GRCh37	18	29044298	29044298	+	synonymous_variant	Silent	SNP	A	T	T			CHC1182T																					ENST00000257189.4:c.1224A>T	p.Thr408=	p.T408=	ENST00000257189	NM_001944.2	408	acA/acT	0	not done		synonymous	
DSG3		inserm.fr	GRCh37	18	29049268	29049268	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000257189.4:c.1853C>T	p.Pro618Leu	p.P618L	ENST00000257189	NM_001944.2	618	cCt/cTt	0	not done		probablydamaging	
OPRD1		inserm.fr	GRCh37	1	29189681	29189681	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM337T																					ENST00000234961.2:c.1005G>T	p.Lys335Asn	p.K335N	ENST00000234961	NM_000911.3	335	aaG/aaT	0	validated		benign	
FAM179A		inserm.fr	GRCh37	2	29225472	29225472	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1192T																					ENST00000379558.4:c.498G>T	p.Gln166His	p.Q166H	ENST00000379558	NM_199280.2	166	caG/caT	0	not done		probablydamaging	
FAM179A		inserm.fr	GRCh37	2	29225473	29225473	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1192T																					ENST00000379558.4:c.499A>T	p.Arg167Trp	p.R167W	ENST00000379558	NM_199280.2	167	Agg/Tgg	0	not done		probablydamaging	
FOXG1		inserm.fr	GRCh37	14	29237393	29237393	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC879T																					ENST00000382535.3:c.908C>T	p.Ala303Val	p.A303V	ENST00000382535		303	gCc/gTc	0	not done		possiblydamaging	
FOXG1		inserm.fr	GRCh37	14	29237799	29237799	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000382535.3:c.1314C>T	p.Ala438=	p.A438=	ENST00000382535		438	gcC/gcT	0	not done		synonymous	
FAM179A		inserm.fr	GRCh37	2	29247205	29247205	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000379558.4:c.1818C>T	p.Ala606=	p.A606=	ENST00000379558	NM_199280.2	606	gcC/gcT	0	not done		synonymous	
FAM179A		inserm.fr	GRCh37	2	29259479	29259479	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000379558.4:c.2491G>T	p.Ala831Ser	p.A831S	ENST00000379558	NM_199280.2	831	Gcc/Tcc	0	not done		probablydamaging	
C2orf71		inserm.fr	GRCh37	2	29294834	29294834	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1756T																					ENST00000331664.5:c.2294C>A	p.Pro765His	p.P765H	ENST00000331664	NM_001029883.2	765	cCc/cAc	0	not done		probablydamaging	
ARSH		inserm.fr	GRCh37	X	2936657	2936657	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1207T																					ENST00000381130.2:c.847C>T	p.Arg283Cys	p.R283C	ENST00000381130	NM_001011719.1	283	Cgc/Tgc	0	not done		probablydamaging	
CLIP4		inserm.fr	GRCh37	2	29375652	29375652	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000320081.5:c.1123C>T	p.Gln375Ter	p.Q375*	ENST00000320081	NM_024692.4	375	Cag/Tag	0	not done		damaging	
ACTRT2		inserm.fr	GRCh37	1	2938597	2938597	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000378404.2:c.347C>T	p.Pro116Leu	p.P116L	ENST00000378404	NM_080431.4	116	cCc/cTc	0	not done		probablydamaging	
ACTRT2		inserm.fr	GRCh37	1	2938700	2938700	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000378404.2:c.450C>T	p.Ala150=	p.A150=	ENST00000378404	NM_080431.4	150	gcC/gcT	0	not done		synonymous	
CLIP4		inserm.fr	GRCh37	2	29404644	29404644	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC912T																					ENST00000320081.5:c.2003C>T	p.Ser668Leu	p.S668L	ENST00000320081	NM_024692.4	668	tCa/tTa	0	validated		benign	
OR10C1		inserm.fr	GRCh37	6	29407852	29407852	+	synonymous_variant	Silent	SNP	C	T	T			BCM269T																					ENST00000444197.2:c.60C>T	p.Ala20=	p.A20=	ENST00000444197	NM_013941.3	20	gcC/gcT	0	validated		synonymous	
OR10C1		inserm.fr	GRCh37	6	29408024	29408024	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC434T									Valid												ENST00000444197.2:c.232C>T	p.Pro78Ser	p.P78S	ENST00000444197	NM_013941.3	78	Ccc/Tcc	0	validated		probablydamaging	
ENTREP2		inserm.fr	GRCh37	15	29415710	29415710	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000261275.4:c.1452G>A	p.Lys484=	p.K484=	ENST00000261275	NM_015307.1	484	aaG/aaA	0	not done		synonymous	
ENTREP2		inserm.fr	GRCh37	15	29416917	29416917	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261275.4:c.1276G>A	p.Gly426Arg	p.G426R	ENST00000261275	NM_015307.1	426	Gga/Aga	0	not done		possiblydamaging	
OR2H1		inserm.fr	GRCh37	6	29429682	29429682	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000377136.1:c.136C>T	p.Leu46=	p.L46=	ENST00000377136		46	Ctg/Ttg	0	not done		synonymous	
OR2H1		inserm.fr	GRCh37	6	29430349	29430349	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000377136.1:c.803G>T	p.Arg268Met	p.R268M	ENST00000377136		268	aGg/aTg	0	not done		probablydamaging	
SLC22A18		inserm.fr	GRCh37	11	2943434	2943434	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC2034T																					ENST00000380574.1:c.966+1G>T		p.X322_splice	ENST00000380574				0	not done		damaging	
ZNRF3		inserm.fr	GRCh37	22	29445379	29445379	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1041T									Valid												ENST00000544604.2:c.1210G>T	p.Glu404Ter	p.E404*	ENST00000544604	NM_001206998.1	404	Gag/Tag	0	validated		damaging	
ZNRF3		inserm.fr	GRCh37	22	29446536	29446536	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000544604.2:c.2367C>T	p.Arg789=	p.R789=	ENST00000544604	NM_001206998.1	789	cgC/cgT	0	validated		synonymous	
CSMD1		inserm.fr	GRCh37	8	2944789	2944789	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC884T																					ENST00000537824.1:c.7304C>A	p.Thr2435Asn	p.T2435N	ENST00000537824	NM_033225.5	2435	aCc/aAc	0	validated		benign	
MAS1L		inserm.fr	GRCh37	6	29455107	29455107	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC805T																					ENST00000377127.3:c.573T>A	p.Asn191Lys	p.N191K	ENST00000377127	NM_052967.1	191	aaT/aaA	0	not done		possiblydamaging	
SLC22A18		inserm.fr	GRCh37	11	2946383	2946383	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1065T																					ENST00000380574.1:c.1231C>T	p.Leu411Phe	p.L411F	ENST00000380574		411	Ctc/Ttc	0	validated		probablydamaging	
FAR2		inserm.fr	GRCh37	12	29469891	29469891	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000536681.3:c.1073G>T	p.Arg358Leu	p.R358L	ENST00000536681	NM_001271783.1	358	cGg/cTg	0	not done		benign	
SRSF4		inserm.fr	GRCh37	1	29475373	29475373	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000373795.4:c.1034G>A	p.Arg345Lys	p.R345K	ENST00000373795	NM_005626.4	345	aGg/aAg	0	not done		benign	
ALK		inserm.fr	GRCh37	2	29498323	29498323	+	synonymous_variant	Silent	SNP	G	T	T			CHC1616T																					ENST00000389048.3:c.1857C>A	p.Ser619=	p.S619=	ENST00000389048	NM_004304.4	619	tcC/tcA	0	not done		synonymous	
UBD		inserm.fr	GRCh37	6	29523897	29523897	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000377050.4:c.258G>A	p.Glu86=	p.E86=	ENST00000377050	NM_006398.3	86	gaG/gaA	0	not done		synonymous	
NDNL2		inserm.fr	GRCh37	15	29561301	29561301	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000332303.4:c.609G>A	p.Arg203=	p.R203=	ENST00000332303	NM_138704.3	203	cgG/cgA	0	not done		synonymous	
GABBR1		inserm.fr	GRCh37	6	29578771	29578771	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC609T																					ENST00000377034.4:c.1638C>A	p.Ser546Arg	p.S546R	ENST00000377034	NM_001470.2	546	agC/agA	0	validated		benign	
GABBR1		inserm.fr	GRCh37	6	29599305	29599305	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000377034.4:c.157G>A	p.Ala53Thr	p.A53T	ENST00000377034	NM_001470.2	53	Gct/Act	0	not done		benign	
GABBR1		inserm.fr	GRCh37	6	29599315	29599315	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB307T																					ENST00000377034.4:c.147C>A	p.Asp49Glu	p.D49E	ENST00000377034	NM_001470.2	49	gaC/gaA	0	validated		benign	
MTUS2		inserm.fr	GRCh37	13	29599438	29599438	+	synonymous_variant	Silent	SNP	C	T	T			CHC2213T																					ENST00000431530.3:c.633C>T	p.Asp211=	p.D211=	ENST00000431530	NM_001033602.2	211	gaC/gaT	0	not done		synonymous	
LPIN2		inserm.fr	GRCh37	18	2960672	2960672	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261596.4:c.167G>A	p.Gly56Glu	p.G56E	ENST00000261596	NM_014646.2	56	gGa/gAa	0	not done		probablydamaging	
OVCH1		inserm.fr	GRCh37	12	29607814	29607814	+	synonymous_variant	Silent	SNP	C	T	T			CHC1717T																					ENST00000318184.5:c.2490G>A	p.Leu830=	p.L830=	ENST00000318184	NM_183378.2	830	ttG/ttA	0	not done		synonymous	
OMG		inserm.fr	GRCh37	17	29623309	29623309	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM543T									Valid												ENST00000247271.4:c.41T>A	p.Ile14Asn	p.I14N	ENST00000247271	NM_002544.4	14	aTc/aAc	0	validated		possiblydamaging	
OVCH1		inserm.fr	GRCh37	12	29630126	29630126	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000318184.5:c.1286G>A	p.Gly429Glu	p.G429E	ENST00000318184	NM_183378.2	429	gGg/gAg	0	not done		benign	
ZFP57		inserm.fr	GRCh37	6	29640818	29640818	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC155T									Valid												ENST00000488757.1:c.1070C>A	p.Thr357Asn	p.T357N	ENST00000488757	NM_001109809.2	357	aCc/aAc	0	validated		probablydamaging	
CARD11		inserm.fr	GRCh37	7	2968323	2968323	+	synonymous_variant	Silent	SNP	G	T	T			CHC1154T																					ENST00000396946.4:c.1663C>A	p.Arg555=	p.R555=	ENST00000396946	NM_032415.4	555	Cgg/Agg	0	not done		synonymous	
HLA-F		inserm.fr	GRCh37	6	29692000	29692000	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000259951.7:c.385C>T	p.Arg129Cys	p.R129C	ENST00000259951	NM_001098479.1	129	Cgc/Tgc	0	not done		probablydamaging	
SVIL		inserm.fr	GRCh37	10	29821919	29821919	+	synonymous_variant	Silent	SNP	C	T	T			CHC923T																					ENST00000375398.2:c.1377G>A	p.Leu459=	p.L459=	ENST00000375398		459	ttG/ttA	0	not done		synonymous	
FLYWCH1		inserm.fr	GRCh37	16	2983328	2983328	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCB109T									Valid												ENST00000416288.2:c.991C>T	p.Gln331Ter	p.Q331*	ENST00000416288	NM_032296.2	331	Cag/Tag	0	validated		damaging	
RFPL1		inserm.fr	GRCh37	22	29837794	29837794	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC451T																					ENST00000354373.2:c.637C>T	p.Arg213Cys	p.R213C	ENST00000354373	NM_021026.2	213	Cgt/Tgt	0	validated		benign	
RFPL1		inserm.fr	GRCh37	22	29837917	29837917	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000354373.2:c.760C>T	p.Gln254Ter	p.Q254*	ENST00000354373	NM_021026.2	254	Cag/Tag	0	not done		damaging	
CARD11		inserm.fr	GRCh37	7	2983877	2983877	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1010T																					ENST00000396946.4:c.653C>A	p.Ala218Glu	p.A218E	ENST00000396946	NM_032415.4	218	gCg/gAg	0	not done		probablydamaging	
MVP		inserm.fr	GRCh37	16	29842239	29842239	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC303T									Valid												ENST00000357402.5:c.166C>T	p.Arg56Cys	p.R56C	ENST00000357402	NM_017458.3	56	Cgt/Tgt	0	validated		probablydamaging	
DEFB115		inserm.fr	GRCh37	20	29845509	29845509	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC097T																					ENST00000400552.1:c.43C>T	p.Leu15Phe	p.L15F	ENST00000400552	NM_001037730.1	15	Ctc/Ttc	0	not done		probablydamaging	
DEFB115		inserm.fr	GRCh37	20	29847267	29847267	+	synonymous_variant	Silent	SNP	A	T	T			CHC2048T																					ENST00000400552.1:c.99A>T	p.Gly33=	p.G33=	ENST00000400552	NM_001037730.1	33	ggA/ggT	0	not done		synonymous	
DEFB115		inserm.fr	GRCh37	20	29847370	29847370	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000400552.1:c.202C>T	p.Pro68Ser	p.P68S	ENST00000400552	NM_001037730.1	68	Cct/Tct	0	not done		possiblydamaging	
MVP		inserm.fr	GRCh37	16	29856145	29856145	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2352T																					ENST00000357402.5:c.1966C>T	p.Arg656Cys	p.R656C	ENST00000357402	NM_017458.3	656	Cgc/Tgc	0	not done		probablydamaging	
GAREM		inserm.fr	GRCh37	18	29867623	29867623	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000269209.6:c.937G>A	p.Val313Met	p.V313M	ENST00000269209		313	Gtg/Atg	0	not done		possiblydamaging	
NEFH		inserm.fr	GRCh37	22	29885141	29885141	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000310624.6:c.1512C>T	p.Pro504=	p.P504=	ENST00000310624	NM_021076.3	504	ccC/ccT	0	not done		synonymous	
NEFH		inserm.fr	GRCh37	22	29885209	29885209	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T									Valid												ENST00000310624.6:c.1580C>T	p.Pro527Leu	p.P527L	ENST00000310624	NM_021076.3	527	cCg/cTg	0	validated		probablydamaging	
NEFH		inserm.fr	GRCh37	22	29885518	29885518	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000310624.6:c.1889C>T	p.Ala630Val	p.A630V	ENST00000310624	NM_021076.3	630	gCt/gTt	0	not done		benign	
THOC5		inserm.fr	GRCh37	22	29908043	29908043	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000490103.1:c.1764G>A	p.Gly588=	p.G588=	ENST00000490103	NM_003678.4	588	ggG/ggA	0	not done		synonymous	
KCTD13		inserm.fr	GRCh37	16	29934543	29934543	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000568000.1:c.382G>A	p.Gly128Ser	p.G128S	ENST00000568000	NM_178863.3	128	Ggc/Agc	0	not done		possiblydamaging	
KCTD13		inserm.fr	GRCh37	16	29934676	29934676	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000568000.1:c.249G>A	p.Trp83Ter	p.W83*	ENST00000568000	NM_178863.3	83	tgG/tgA	0	not done		damaging	
LEPROTL1		inserm.fr	GRCh37	8	29962003	29962003	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC1704T																					ENST00000523116.1:c.279+1G>T		p.X93_splice	ENST00000523116	NM_001128208.1			0	not done		possiblydamaging	
GAREM		inserm.fr	GRCh37	18	29972990	29972990	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC703T																					ENST00000269209.6:c.130G>A	p.Val44Ile	p.V44I	ENST00000269209		44	Gta/Ata	0	validated		benign	
TAOK2		inserm.fr	GRCh37	16	29990559	29990559	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM703T																					ENST00000308893.4:c.493G>T	p.Val165Leu	p.V165L	ENST00000308893	NM_016151.3	165	Gtg/Ttg	0	validated		probablydamaging	
TAOK2		inserm.fr	GRCh37	16	29990622	29990622	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1040T																					ENST00000308893.4:c.556C>T	p.Pro186Ser	p.P186S	ENST00000308893	NM_016151.3	186	Cca/Tca	0	not done		probablydamaging	
DCTN6		inserm.fr	GRCh37	8	30013905	30013905	+	synonymous_variant	Silent	SNP	G	T	T			CHC1035T																					ENST00000221114.3:c.6G>T	p.Ala2=	p.A2=	ENST00000221114	NM_006571.3	2	gcG/gcT	0	validated		synonymous	
TJP1		inserm.fr	GRCh37	15	30019093	30019093	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000346128.6:c.2203G>A	p.Gly735Arg	p.G735R	ENST00000346128	NM_175610.2	735	Gga/Aga	0	not done		probablydamaging	
VSTM2B		inserm.fr	GRCh37	19	30020813	30020813	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000335523.7:c.385G>T	p.Val129Leu	p.V129L	ENST00000335523	NM_001146339.1	129	Gtg/Ttg	0	not done		probablydamaging	
VSTM2B		inserm.fr	GRCh37	19	30021051	30021051	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC909T																					ENST00000335523.7:c.623C>T	p.Pro208Leu	p.P208L	ENST00000335523	NM_001146339.1	208	cCc/cTc	0	validated		probablydamaging	
KCNA4		inserm.fr	GRCh37	11	30032374	30032374	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000328224.6:c.1852G>A	p.Val618Ile	p.V618I	ENST00000328224	NM_002233.3	618	Gtt/Att	0	not done		benign	
TJP1		inserm.fr	GRCh37	15	30033586	30033586	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM543T																					ENST00000346128.6:c.1205G>A	p.Ser402Asn	p.S402N	ENST00000346128	NM_175610.2	402	aGt/aAt	0	validated		possiblydamaging	
KCNA4		inserm.fr	GRCh37	11	30033717	30033717	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1715T																					ENST00000328224.6:c.509G>A	p.Arg170His	p.R170H	ENST00000328224	NM_002233.3	170	cGc/cAc	0	not done		probablydamaging	
KCNA4		inserm.fr	GRCh37	11	30034088	30034088	+	synonymous_variant	Silent	SNP	C	T	T			CHC736T																					ENST00000328224.6:c.138G>A	p.Ala46=	p.A46=	ENST00000328224	NM_002233.3	46	gcG/gcA	0	validated		synonymous	
DEFB123		inserm.fr	GRCh37	20	30037969	30037969	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000376309.3:c.196C>T	p.Pro66Ser	p.P66S	ENST00000376309	NM_153324.2	66	Cca/Tca	0	not done		benign	
NF2		inserm.fr	GRCh37	22	30050694	30050694	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC923T																					ENST00000338641.4:c.496G>T	p.Glu166Ter	p.E166*	ENST00000338641	NM_000268.3	166	Gag/Tag	0	not done		damaging	
REM1		inserm.fr	GRCh37	20	30064262	30064262	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000201979.2:c.14C>T	p.Thr5Ile	p.T5I	ENST00000201979	NM_014012.5	5	aCc/aTc	0	not done		possiblydamaging	
SLC7A1		inserm.fr	GRCh37	13	30097544	30097544	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000380752.5:c.908G>A	p.Gly303Glu	p.G303E	ENST00000380752	NM_003045.4	303	gGg/gAg	0	not done		probablydamaging	
PRKD1		inserm.fr	GRCh37	14	30100125	30100125	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC703T																					ENST00000331968.5:c.1495G>A	p.Val499Ile	p.V499I	ENST00000331968	NM_002742.2	499	Gta/Ata	0	validated		benign	
SLC7A1		inserm.fr	GRCh37	13	30104694	30104694	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000380752.5:c.685G>A	p.Gly229Ser	p.G229S	ENST00000380752	NM_003045.4	229	Ggc/Agc	0	not done		benign	
TRIM15		inserm.fr	GRCh37	6	30131473	30131473	+	synonymous_variant	Silent	SNP	C	T	T			CHC1734T																					ENST00000376694.4:c.12C>T	p.Thr4=	p.T4=	ENST00000376694	NM_033229.2	4	acC/acT	0	not done		synonymous	
TRIM15		inserm.fr	GRCh37	6	30140064	30140064	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC197T																					ENST00000376694.4:c.1336G>T	p.Gly446Cys	p.G446C	ENST00000376694	NM_033229.2	446	Ggc/Tgc	0	validated		probablydamaging	
PTPRA		inserm.fr	GRCh37	20	3016450	3016450	+	synonymous_variant	Silent	SNP	G	T	T			BCM739T																					ENST00000380393.3:c.2061G>T	p.Arg687=	p.R687=	ENST00000380393	NM_002836.3	687	cgG/cgT	0	validated		synonymous	
TRIM26		inserm.fr	GRCh37	6	30166238	30166238	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB167T																					ENST00000454678.2:c.502G>A	p.Ala168Thr	p.A168T	ENST00000454678	NM_003449.4	168	Gca/Aca	0	validated		benign	
SLC6A12		inserm.fr	GRCh37	12	301700	301700	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM375T									Valid												ENST00000428720.1:c.1645T>A	p.Cys549Ser	p.C549S	ENST00000428720	NM_001122848.2	549	Tgt/Agt	0	validated		probablydamaging	
KREMEN2		inserm.fr	GRCh37	16	3017862	3017862	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC703T																					ENST00000303746.5:c.1230G>T	p.Arg410Ser	p.R410S	ENST00000303746		410	agG/agT	0	validated		probablydamaging	
CORO1A		inserm.fr	GRCh37	16	30199778	30199778	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000219150.5:c.1162C>T	p.Leu388Phe	p.L388F	ENST00000219150	NM_007074.3	388	Ctc/Ttc	0	not done		possiblydamaging	
PAQR4		inserm.fr	GRCh37	16	3021563	3021563	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1192T																					ENST00000318782.8:c.436C>T	p.Arg146Cys	p.R146C	ENST00000318782	NM_152341.3	146	Cgc/Tgc	0	not done		probablydamaging	
ASCC2		inserm.fr	GRCh37	22	30221227	30221227	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1191T																					ENST00000397771.2:c.260T>A	p.Leu87Gln	p.L87Q	ENST00000397771		87	cTa/cAa	0	not done		probablydamaging	
MAGEB2		inserm.fr	GRCh37	X	30236750	30236750	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000378988.4:c.53C>T	p.Ala18Val	p.A18V	ENST00000378988	NM_002364.4	18	gCc/gTc	0	not done		possiblydamaging	
PKMYT1		inserm.fr	GRCh37	16	3025734	3025734	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2321T									Valid												ENST00000262300.8:c.458G>A	p.Arg153His	p.R153H	ENST00000262300	NM_001258450.1	153	cGc/cAc	0	validated		possiblydamaging	
MAGEB4		inserm.fr	GRCh37	X	30260581	30260581	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000378982.2:c.329C>T	p.Thr110Ile	p.T110I	ENST00000378982	NM_002367.3	110	aCc/aTc	0	not done		possiblydamaging	
ZNRF2		inserm.fr	GRCh37	7	30325416	30325416	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1725T																					ENST00000323037.4:c.443C>T	p.Ala148Val	p.A148V	ENST00000323037	NM_147128.3	148	gCt/gTt	0	validated		benign	
KLHL14		inserm.fr	GRCh37	18	30350489	30350489	+	synonymous_variant	Silent	SNP	G	T	T			CHC1708T																					ENST00000359358.4:c.66C>A	p.Gly22=	p.G22=	ENST00000359358	NM_020805.1	22	ggC/ggA	0	not done		synonymous	
KLHL14		inserm.fr	GRCh37	18	30352064	30352064	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000426194.1:c.361C>T	p.Pro121Ser	p.P121S	ENST00000426194		121	Ccc/Tcc	0	not done			
LTN1		inserm.fr	GRCh37	21	30357168	30357168	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000389194.2:c.559G>A	p.Ala187Thr	p.A187T	ENST00000389194	NM_015565.2	187	Gct/Act	0	not done		probablydamaging	
TPX2		inserm.fr	GRCh37	20	30370140	30370140	+	synonymous_variant	Silent	SNP	G	T	T			CHC314T																					ENST00000300403.6:c.1143G>T	p.Val381=	p.V381=	ENST00000300403	NM_012112.4	381	gtG/gtT	0	validated		synonymous	
GRK4		inserm.fr	GRCh37	4	3037136	3037136	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2200T																					ENST00000398052.4:c.1293G>T	p.Lys431Asn	p.K431N	ENST00000398052	NM_182982.2	431	aaG/aaT	0	validated		possiblydamaging	
MTMR3		inserm.fr	GRCh37	22	30384503	30384503	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC889T																					ENST00000401950.2:c.245G>T	p.Arg82Leu	p.R82L	ENST00000401950	NM_021090.3	82	cGa/cTa	0	not done		possiblydamaging	
MTMR3		inserm.fr	GRCh37	22	30416030	30416030	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC155T																					ENST00000401950.2:c.2382G>T	p.Glu794Asp	p.E794D	ENST00000401950	NM_021090.3	794	gaG/gaT	0	validated		probablydamaging	
MPPED2		inserm.fr	GRCh37	11	30439174	30439174	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000358117.5:c.543G>A	p.Pro181=	p.P181=	ENST00000358117	NM_001584.2	181	ccG/ccA	0	not done		synonymous	
DCTPP1		inserm.fr	GRCh37	16	30441238	30441238	+	synonymous_variant	Silent	SNP	G	T	T			BCM529T																					ENST00000319285.4:c.64C>A	p.Arg22=	p.R22=	ENST00000319285	NM_024096.1	22	Cgg/Agg	0	validated		synonymous	
DCTPP1		inserm.fr	GRCh37	16	30441279	30441279	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2099T																					ENST00000319285.4:c.23T>A	p.Ile8Asn	p.I8N	ENST00000319285	NM_024096.1	8	aTt/aAt	0	not done		benign	
ITFG3		inserm.fr	GRCh37	16	304607	304607	+	synonymous_variant	Silent	SNP	C	T	T			BCM545T																					ENST00000399932.3:c.195C>T	p.Val65=	p.V65=	ENST00000399932	NM_001284497.1	65	gtC/gtT	0	validated		synonymous	
DOCK8		inserm.fr	GRCh37	9	304618	304618	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1041T																					ENST00000453981.1:c.442A>T	p.Thr148Ser	p.T148S	ENST00000453981		148	Act/Tct	0	validated		benign	
MAP3K7CL		inserm.fr	GRCh37	21	30464823	30464823	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1531T																					ENST00000399947.2:c.291G>T	p.Lys97Asn	p.K97N	ENST00000399947	NM_020152.2	97	aaG/aaT	0	not done		benign	
CSMD1		inserm.fr	GRCh37	8	3047482	3047482	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1205T									Valid												ENST00000537824.1:c.5350G>A	p.Val1784Met	p.V1784M	ENST00000537824	NM_033225.5	1784	Gtg/Atg	0	validated		probablydamaging	
HORMAD2		inserm.fr	GRCh37	22	30507795	30507795	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000336726.6:c.305C>T	p.Ala102Val	p.A102V	ENST00000336726	NM_152510.2	102	gCa/gTa	0	not done		possiblydamaging	
PDRG1		inserm.fr	GRCh37	20	30534316	30534316	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM683T																					ENST00000202017.4:c.302G>A	p.Arg101His	p.R101H	ENST00000202017	NM_030815.2	101	cGc/cAc	0	validated		possiblydamaging	
ZNF768		inserm.fr	GRCh37	16	30536693	30536693	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000380412.5:c.768G>A	p.Gln256=	p.Q256=	ENST00000380412	NM_024671.3	256	caG/caA	0	not done		synonymous	
ZNF688		inserm.fr	GRCh37	16	30582785	30582785	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM617T																					ENST00000223459.6:c.166C>A	p.Gln56Lys	p.Q56K	ENST00000223459	NM_145271.3	56	Cag/Aag	0	validated		benign	
AES		inserm.fr	GRCh37	19	3062743	3062743	+	synonymous_variant	Silent	SNP	G	T	T			CHC898T																					ENST00000221561.8:c.183C>A	p.Ser61=	p.S61=	ENST00000221561	NM_198969.1	61	tcC/tcA	0	not done		synonymous	
AES		inserm.fr	GRCh37	19	3062744	3062744	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC898T																					ENST00000221561.8:c.182C>A	p.Ser61Tyr	p.S61Y	ENST00000221561	NM_198969.1	61	tCc/tAc	0	not done		possiblydamaging	
DHX16		inserm.fr	GRCh37	6	30632705	30632705	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC796T									Valid												ENST00000376442.3:c.1190G>A	p.Arg397His	p.R397H	ENST00000376442	NM_001164239.1	397	cGc/cAc	0	validated		probablydamaging	
LIF		inserm.fr	GRCh37	22	30639834	30639834	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000249075.3:c.415G>A	p.Ala139Thr	p.A139T	ENST00000249075	NM_002309.4	139	Gcc/Acc	0	validated		benign	
AVP		inserm.fr	GRCh37	20	3065287	3065287	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1744T																					ENST00000380293.3:c.34G>A	p.Gly12Ser	p.G12S	ENST00000380293	NM_000490.4	12	Ggc/Agc	0	not done		benign	
PPP1R18		inserm.fr	GRCh37	6	30653139	30653139	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000274853.3:c.657G>A	p.Val219=	p.V219=	ENST00000274853	NM_133471.3	219	gtG/gtA	0	not done		synonymous	
CLDN6		inserm.fr	GRCh37	16	3065708	3065708	+	synonymous_variant	Silent	SNP	G	T	T			CHC1717T																					ENST00000396925.1:c.315C>A	p.Thr105=	p.T105=	ENST00000396925		105	acC/acA	0	validated		synonymous	
SLC6A12		inserm.fr	GRCh37	12	306573	306573	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000428720.1:c.1045G>A	p.Gly349Arg	p.G349R	ENST00000428720	NM_001122848.2	349	Ggg/Agg	0	not done		probablydamaging	
OSM		inserm.fr	GRCh37	22	30660085	30660085	+	synonymous_variant	Silent	SNP	C	T	T			CHC1210T																					ENST00000215781.2:c.546G>A	p.Ser182=	p.S182=	ENST00000215781	NM_020530.4	182	tcG/tcA	0	validated		synonymous	
C17orf75		inserm.fr	GRCh37	17	30660520	30660520	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000577809.1:c.891G>A	p.Glu297=	p.E297=	ENST00000577809	NM_022344.3	297	gaG/gaA	0	not done		synonymous	
OSM		inserm.fr	GRCh37	22	30662784	30662784	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000215781.2:c.5G>A	p.Gly2Glu	p.G2E	ENST00000215781	NM_020530.4	2	gGg/gAg	0	not done		benign	
PRR14		inserm.fr	GRCh37	16	30663134	30663134	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000542965.2:c.41G>T	p.Arg14Leu	p.R14L	ENST00000542965		14	cGt/cTt	0	not done		probablydamaging	
HCK		inserm.fr	GRCh37	20	30671799	30671799	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375852.2:c.635C>T	p.Pro212Leu	p.P212L	ENST00000375852		212	cCc/cTc	0	not done		probablydamaging	
HCK		inserm.fr	GRCh37	20	30676422	30676422	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375852.2:c.1067C>T	p.Pro356Leu	p.P356L	ENST00000375852		356	cCa/cTa	0	not done		possiblydamaging	
FBRS		inserm.fr	GRCh37	16	30680127	30680127	+	synonymous_variant	Silent	SNP	A	T	T			CHC1624T																					ENST00000356166.6:c.2193A>T	p.Pro731=	p.P731=	ENST00000356166		731	ccA/ccT	0	validated		synonymous	
MDC1		inserm.fr	GRCh37	6	30680384	30680384	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB157T																					ENST00000376406.3:c.1335C>A	p.Ser445Arg	p.S445R	ENST00000376406	NM_014641.2	445	agC/agA	0	validated		probablydamaging	
ZNF207		inserm.fr	GRCh37	17	30692472	30692472	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1205T																					ENST00000394670.4:c.794C>T	p.Pro265Leu	p.P265L	ENST00000394670	NM_001098507.1	265	cCa/cTa	0	not done		probablydamaging	
TEX15		inserm.fr	GRCh37	8	30695402	30695402	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB111T																					ENST00000256246.2:c.7249G>A	p.Asp2417Asn	p.D2417N	ENST00000256246	NM_031271.3	2417	Gac/Aac	0	validated		probablydamaging	
TEX15		inserm.fr	GRCh37	8	30695553	30695553	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1545T																					ENST00000256246.2:c.7098C>A	p.Ser2366Arg	p.S2366R	ENST00000256246	NM_031271.3	2366	agC/agA	0	validated		probablydamaging	
TEX15		inserm.fr	GRCh37	8	30702748	30702748	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000256246.2:c.3786G>A	p.Ala1262=	p.A1262=	ENST00000256246	NM_031271.3	1262	gcG/gcA	0	not done		synonymous	
TEX15		inserm.fr	GRCh37	8	30703039	30703039	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000256246.2:c.3495G>A	p.Gln1165=	p.Q1165=	ENST00000256246	NM_031271.3	1165	caG/caA	0	not done		synonymous	
SRCAP		inserm.fr	GRCh37	16	30715562	30715562	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCM325T																					ENST00000262518.4:c.232C>T	p.Gln78Ter	p.Q78*	ENST00000262518	NM_006662.2	78	Cag/Tag	0	validated		damaging	
CSMD1		inserm.fr	GRCh37	8	3072143	3072143	+	synonymous_variant	Silent	SNP	C	T	T			CHC2103T																					ENST00000537824.1:c.4743G>A	p.Lys1581=	p.K1581=	ENST00000537824	NM_033225.5	1581	aaG/aaA	0	not done		synonymous	
PCDH7		inserm.fr	GRCh37	4	30724329	30724329	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1209T																					ENST00000543491.1:c.1285G>T	p.Val429Leu	p.V429L	ENST00000543491		429	Gtg/Ttg	0	not done		benign	
PCDH7		inserm.fr	GRCh37	4	30725232	30725232	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000543491.1:c.2188C>T	p.Leu730Phe	p.L730F	ENST00000543491		730	Ctt/Ttt	0	not done		probablydamaging	
SF3A1		inserm.fr	GRCh37	22	30737836	30737836	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000215793.8:c.916G>A	p.Ala306Thr	p.A306T	ENST00000215793	NM_005877.4	306	Gcc/Acc	0	not done		probablydamaging	
SF3A1		inserm.fr	GRCh37	22	30742398	30742398	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000215793.8:c.296G>A	p.Ser99Asn	p.S99N	ENST00000215793	NM_005877.4	99	aGc/aAc	0	not done		benign	
THOC6		inserm.fr	GRCh37	16	3076289	3076289	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000326266.8:c.362G>T	p.Arg121Met	p.R121M	ENST00000326266	NM_024339.3	121	aGg/aTg	0	not done		possiblydamaging	
PHKG2		inserm.fr	GRCh37	16	30767979	30767979	+	synonymous_variant	Silent	SNP	C	T	T			CHC891T																					ENST00000563588.1:c.870C>T	p.Phe290=	p.F290=	ENST00000563588	NM_000294.2	290	ttC/ttT	0	not done		synonymous	
RNF40		inserm.fr	GRCh37	16	30775606	30775606	+	synonymous_variant	Silent	SNP	C	T	T			CHC1595T																					ENST00000324685.6:c.549C>T	p.Gly183=	p.G183=	ENST00000324685	NM_014771.3	183	ggC/ggT	0	validated		synonymous	
PLAGL2		inserm.fr	GRCh37	20	30784654	30784654	+	synonymous_variant	Silent	SNP	C	T	T			BCM501T																					ENST00000246229.4:c.1092G>A	p.Ala364=	p.A364=	ENST00000246229	NM_002657.3	364	gcG/gcA	0	validated		synonymous	
INMT		inserm.fr	GRCh37	7	30793521	30793521	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2358T																					ENST00000013222.5:c.329C>T	p.Ala110Val	p.A110V	ENST00000013222	NM_006774.4	110	gCg/gTg	0	validated		benign	
CDK5R1		inserm.fr	GRCh37	17	30815119	30815119	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000313401.3:c.481C>T	p.Arg161Cys	p.R161C	ENST00000313401	NM_003885.2	161	Cgc/Tgc	0	validated		probablydamaging	
SEC14L3		inserm.fr	GRCh37	22	30863040	30863040	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC799T																					ENST00000215812.4:c.448G>A	p.Val150Met	p.V150M	ENST00000215812	NM_174975.4	150	Gtg/Atg	0	not done		benign	
GTF2H4		inserm.fr	GRCh37	6	30879046	30879046	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1545T																					ENST00000259895.4:c.672G>T	p.Gln224His	p.Q224H	ENST00000259895	NM_001517.4	224	caG/caT	0	validated		possiblydamaging	
PURG		inserm.fr	GRCh37	8	30889518	30889518	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000475541.1:c.781C>A	p.Leu261Ile	p.L261I	ENST00000475541	NM_013357.2	261	Ctc/Atc	0	not done		probablydamaging	
VARS2		inserm.fr	GRCh37	6	30893134	30893134	+	synonymous_variant	Silent	SNP	G	T	T			CHC1731T																					ENST00000541562.1:c.2847G>T	p.Thr949=	p.T949=	ENST00000541562	NM_001167734.1	949	acG/acT	0	not done		synonymous	
VARS2		inserm.fr	GRCh37	6	30893767	30893767	+	synonymous_variant	Silent	SNP	G	T	T			CHC1209T																					ENST00000541562.1:c.3162G>T	p.Gly1054=	p.G1054=	ENST00000541562	NM_001167734.1	1054	ggG/ggT	0	not done		synonymous	
CCDC178		inserm.fr	GRCh37	18	30903470	30903470	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1725T																					ENST00000383096.3:c.1007C>A	p.Thr336Asn	p.T336N	ENST00000383096		336	aCc/aAc	0	validated		benign	
CAPRIN2		inserm.fr	GRCh37	12	30906413	30906413	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000298892.5:c.285G>A	p.Gly95=	p.G95=	ENST00000298892	NM_023925.3	95	ggG/ggA	0	not done		synonymous	
DPCR1		inserm.fr	GRCh37	6	30918051	30918051	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000462446.1:c.1810C>T	p.His604Tyr	p.H604Y	ENST00000462446		604	Cac/Tac	0	not done		possiblydamaging	
DPCR1		inserm.fr	GRCh37	6	30919621	30919621	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1743T																					ENST00000462446.1:c.3380A>T	p.Glu1127Val	p.E1127V	ENST00000462446		1127	gAa/gTa	0	not done		probablydamaging	
DCDC5		inserm.fr	GRCh37	11	30925094	30925094	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	T	T			CHC1041T																					ENST00000303697.4:c.507C>A	p.Ser170Tyr	p.S170Y	ENST00000303697		170	tCt/tAt	0	validated			
ZNF536		inserm.fr	GRCh37	19	30935048	30935048	+	synonymous_variant	Silent	SNP	C	T	T			CHC097T																					ENST00000355537.3:c.579C>T	p.Arg193=	p.R193=	ENST00000355537	NM_014717.1	193	cgC/cgT	0	not done		synonymous	
ZNF536		inserm.fr	GRCh37	19	30935235	30935235	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000355537.3:c.766C>T	p.Pro256Ser	p.P256S	ENST00000355537	NM_014717.1	256	Ccc/Tcc	0	not done		benign	
ZNF536		inserm.fr	GRCh37	19	30935398	30935398	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T																					ENST00000355537.3:c.929C>T	p.Ser310Leu	p.S310L	ENST00000355537	NM_014717.1	310	tCg/tTg	0	validated		probablydamaging	
ZNF536		inserm.fr	GRCh37	19	30935498	30935498	+	synonymous_variant	Silent	SNP	C	T	T			BCM501T																					ENST00000355537.3:c.1029C>T	p.Asn343=	p.N343=	ENST00000355537	NM_014717.1	343	aaC/aaT	0	validated		synonymous	
ZNF536		inserm.fr	GRCh37	19	30935765	30935765	+	synonymous_variant	Silent	SNP	C	T	T			CHC1604T																					ENST00000355537.3:c.1296C>T	p.Ser432=	p.S432=	ENST00000355537	NM_014717.1	432	tcC/tcT	0	not done		synonymous	
DCDC5		inserm.fr	GRCh37	11	30937228	30937228	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000339794.5:c.720G>A	p.Lys240=	p.K240=	ENST00000339794		240	aaG/aaA	0	not done		synonymous	
FBXL19		inserm.fr	GRCh37	16	30941465	30941465	+	synonymous_variant	Silent	SNP	A	T	T			CHC1085T																					ENST00000380310.2:c.921A>T	p.Leu307=	p.L307=	ENST00000380310	NM_001099784.2	307	ctA/ctT	0	validated		synonymous	
GAL3ST1		inserm.fr	GRCh37	22	30951138	30951138	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000402321.1:c.1074G>A	p.Gln358=	p.Q358=	ENST00000402321		358	caG/caA	0	not done		synonymous	
CAPN13		inserm.fr	GRCh37	2	30954256	30954256	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1754T																					ENST00000295055.8:c.1937G>A	p.Arg646His	p.R646H	ENST00000295055	NM_144575.2	646	cGc/cAc	0	not done		benign	
ORAI3		inserm.fr	GRCh37	16	30965110	30965110	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC789T																					ENST00000318663.4:c.833A>T	p.Tyr278Phe	p.Y278F	ENST00000318663	NM_152288.2	278	tAc/tTc	0	not done		benign	
MMP25		inserm.fr	GRCh37	16	3096984	3096984	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000336577.4:c.66G>T	p.Pro22=	p.P22=	ENST00000336577	NM_022468.4	22	ccG/ccT	0	validated		synonymous	
MUC22		inserm.fr	GRCh37	6	30993628	30993628	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000561890.1:c.420C>T	p.Thr140=	p.T140=	ENST00000561890	NM_001198815.1	140	acC/acT	0	not done		synonymous	
MUC22		inserm.fr	GRCh37	6	30994815	30994815	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000561890.1:c.1607C>T	p.Thr536Ile	p.T536I	ENST00000561890	NM_001198815.1	536	aCc/aTc	0	not done			
MUC22		inserm.fr	GRCh37	6	30996226	30996226	+	synonymous_variant	Silent	SNP	A	T	T			CHC1597T																					ENST00000561890.1:c.3018A>T	p.Ser1006=	p.S1006=	ENST00000561890	NM_001198815.1	1006	tcA/tcT	0	not done		synonymous	
HSD3B7		inserm.fr	GRCh37	16	30997948	30997948	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1736T																					ENST00000297679.5:c.454G>T	p.Glu152Ter	p.E152*	ENST00000297679	NM_025193.3	152	Gaa/Taa	0	not done		damaging	
MUC22		inserm.fr	GRCh37	6	31000139	31000139	+	synonymous_variant	Silent	SNP	C	T	T			BCB167T																					ENST00000561890.1:c.4836C>T	p.His1612=	p.H1612=	ENST00000561890	NM_001198815.1	1612	caC/caT	0	validated		synonymous	
MUC22		inserm.fr	GRCh37	6	31002529	31002529	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000561890.1:c.5136C>T	p.Asn1712=	p.N1712=	ENST00000561890	NM_001198815.1	1712	aaC/aaT	0	not done		synonymous	
STX1B		inserm.fr	GRCh37	16	31004205	31004205	+	synonymous_variant	Silent	SNP	G	T	T			CHC609T																					ENST00000215095.5:c.804C>A	p.Ile268=	p.I268=	ENST00000215095	NM_052874.3	268	atC/atA	0	validated		synonymous	
OR1A2		inserm.fr	GRCh37	17	3101610	3101610	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000381951.1:c.798C>T	p.Ser266=	p.S266=	ENST00000381951	NM_012352.1	266	agC/agT	0	not done		synonymous	
ASXL1		inserm.fr	GRCh37	20	31023175	31023175	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375687.4:c.2660C>T	p.Thr887Ile	p.T887I	ENST00000375687	NM_015338.5	887	aCc/aTc	0	not done		possiblydamaging	
MYOM1		inserm.fr	GRCh37	18	3102496	3102496	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1598T																					ENST00000356443.4:c.3551T>A	p.Leu1184Ter	p.L1184*	ENST00000356443	NM_019856.1	1184	tTg/tAg	0	not done		damaging	
PRDM16		inserm.fr	GRCh37	1	3102785	3102785	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000270722.5:c.134C>T	p.Pro45Leu	p.P45L	ENST00000270722		45	cCc/cTc	0	not done		probablydamaging	
PRDM16		inserm.fr	GRCh37	1	3102860	3102860	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000270722.5:c.209C>T	p.Ala70Val	p.A70V	ENST00000270722		70	gCc/gTc	0	not done		possiblydamaging	
ZNF536		inserm.fr	GRCh37	19	31039212	31039212	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB111T									Valid												ENST00000355537.3:c.2686C>T	p.His896Tyr	p.H896Y	ENST00000355537	NM_014717.1	896	Cac/Tac	0	validated		possiblydamaging	
ZNF536		inserm.fr	GRCh37	19	31039631	31039631	+	synonymous_variant	Silent	SNP	C	T	T			CHC1731T																					ENST00000355537.3:c.3105C>T	p.Ile1035=	p.I1035=	ENST00000355537	NM_014717.1	1035	atC/atT	0	not done		synonymous	
C20orf112		inserm.fr	GRCh37	20	31041236	31041236	+	synonymous_variant	Silent	SNP	G	T	T			BCM783T																					ENST00000359676.5:c.636C>A	p.Pro212=	p.P212=	ENST00000359676	NM_080616.4	212	ccC/ccA	0	validated		synonymous	
ZNF668		inserm.fr	GRCh37	16	31075206	31075206	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000539836.3:c.644G>A	p.Gly215Asp	p.G215D	ENST00000539836	NM_001172669.1	215	gGc/gAc	0	not done		probablydamaging	
CDSN		inserm.fr	GRCh37	6	31085067	31085067	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000376288.2:c.325G>A	p.Gly109Arg	p.G109R	ENST00000376288	NM_001264.4	109	Gga/Aga	0	not done		probablydamaging	
CDSN		inserm.fr	GRCh37	6	31085082	31085082	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000376288.2:c.310G>A	p.Gly104Arg	p.G104R	ENST00000376288	NM_001264.4	104	Gga/Aga	0	not done		probablydamaging	
GNA11		inserm.fr	GRCh37	19	3110277	3110277	+	synonymous_variant	Silent	SNP	C	T	T			BCB151T																					ENST00000078429.4:c.267C>T	p.Ala89=	p.A89=	ENST00000078429	NM_002067.2	89	gcC/gcT	0	validated		synonymous	
KAT8		inserm.fr	GRCh37	16	31131668	31131668	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM529T																					ENST00000448516.2:c.295C>T	p.Arg99Trp	p.R99W	ENST00000448516	NM_182958.2	99	Cgg/Tgg	0	validated		probablydamaging	
PCDH7		inserm.fr	GRCh37	4	31144217	31144217	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000543491.1:c.3514C>T	p.Pro1172Ser	p.P1172S	ENST00000543491		1172	Cct/Tct	0	not done		benign	
GALNT14		inserm.fr	GRCh37	2	31147671	31147671	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1061T																					ENST00000324589.5:c.1185C>A	p.Asp395Glu	p.D395E	ENST00000324589	NM_001253826.1	395	gaC/gaA	0	validated		benign	
PRSS36		inserm.fr	GRCh37	16	31159990	31159990	+	synonymous_variant	Silent	SNP	C	T	T			CHC1629T																					ENST00000268281.4:c.279G>A	p.Gly93=	p.G93=	ENST00000268281	NM_173502.4	93	ggG/ggA	0	not done		synonymous	
MATN1		inserm.fr	GRCh37	1	31194572	31194572	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1746T																					ENST00000373765.4:c.121G>A	p.Asp41Asn	p.D41N	ENST00000373765	NM_002379.3	41	Gac/Aac	0	not done		probablydamaging	
USPL1		inserm.fr	GRCh37	13	31205379	31205379	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000255304.4:c.636G>T	p.Met212Ile	p.M212I	ENST00000255304	NM_005800.4	212	atG/atT	0	not done		benign	
FAN1		inserm.fr	GRCh37	15	31210449	31210449	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1742T																					ENST00000362065.4:c.1894C>T	p.Gln632Ter	p.Q632*	ENST00000362065	NM_014967.4	632	Cag/Tag	0	not done		damaging	
HTT		inserm.fr	GRCh37	4	3124634	3124634	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1082T																					ENST00000355072.5:c.1292G>T	p.Cys431Phe	p.C431F	ENST00000355072	NM_002111.6	431	tGc/tTc	0	validated		probablydamaging	
ASXL3		inserm.fr	GRCh37	18	31251824	31251824	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1714T																					ENST00000269197.5:c.709G>T	p.Gly237Cys	p.G237C	ENST00000269197	NM_030632.1	237	Ggt/Tgt	0	not done		probablydamaging	
MTMR10		inserm.fr	GRCh37	15	31267181	31267181	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM275T									Valid												ENST00000435680.1:c.284T>A	p.Leu95His	p.L95H	ENST00000435680	NM_017762.2	95	cTt/cAt	0	validated		probablydamaging	
ITGAM		inserm.fr	GRCh37	16	31277200	31277200	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000544665.3:c.307C>T	p.Leu103=	p.L103=	ENST00000544665	NM_001145808.1	103	Ctg/Ttg	0	not done		synonymous	
OSBPL5		inserm.fr	GRCh37	11	3128657	3128657	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000263650.7:c.895G>A	p.Ala299Thr	p.A299T	ENST00000263650	NM_020896.3	299	Gca/Aca	0	not done		benign	
BPHL		inserm.fr	GRCh37	6	3129308	3129308	+	synonymous_variant	Silent	SNP	G	T	T			CHC1154T																					ENST00000380379.5:c.408G>T	p.Leu136=	p.L136=	ENST00000380379	NM_004332.2	136	ctG/ctT	0	not done		synonymous	
TEAD4		inserm.fr	GRCh37	12	3129840	3129840	+	synonymous_variant	Silent	SNP	G	T	T			CHC1205T																					ENST00000359864.2:c.624G>T	p.Ala208=	p.A208=	ENST00000359864	NM_003213.3	208	gcG/gcT	0	validated		synonymous	
TEAD4		inserm.fr	GRCh37	12	3129841	3129841	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC909T																					ENST00000359864.2:c.625C>T	p.Pro209Ser	p.P209S	ENST00000359864	NM_003213.3	209	Ccc/Tcc	0	not done		probablydamaging	
ASXL3		inserm.fr	GRCh37	18	31318569	31318569	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM703T																					ENST00000269197.5:c.1201G>T	p.Ala401Ser	p.A401S	ENST00000269197	NM_030632.1	401	Gca/Tca	0	validated		benign	
ASXL3		inserm.fr	GRCh37	18	31319708	31319708	+	synonymous_variant	Silent	SNP	C	T	T			CHC1035T																					ENST00000269197.5:c.2340C>T	p.Ser780=	p.S780=	ENST00000269197	NM_030632.1	780	tcC/tcT	0	validated		synonymous	
SPACA3		inserm.fr	GRCh37	17	31322454	31322454	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000269053.3:c.62C>T	p.Pro21Leu	p.P21L	ENST00000269053	NM_173847.3	21	cCt/cTt	0	not done		benign	
ASXL3		inserm.fr	GRCh37	18	31323048	31323048	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000269197.5:c.3236C>T	p.Ala1079Val	p.A1079V	ENST00000269197	NM_030632.1	1079	gCa/gTa	0	not done		probablydamaging	
HLA-B		inserm.fr	GRCh37	6	31323096	31323096	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000412585.2:c.893G>A	p.Trp298Ter	p.W298*	ENST00000412585	NM_005514.6	298	tGg/tAg	0	not done		damaging	
ASXL3		inserm.fr	GRCh37	18	31324881	31324881	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC609T									Valid												ENST00000269197.5:c.5069A>T	p.Glu1690Val	p.E1690V	ENST00000269197	NM_030632.1	1690	gAg/gTg	0	validated		probablydamaging	
DCDC1		inserm.fr	GRCh37	11	31327935	31327935	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000452803.1:c.435G>A	p.Arg145=	p.R145=	ENST00000452803	NM_181807.3	145	agG/agA	0	not done		damaging	
COCH		inserm.fr	GRCh37	14	31348048	31348048	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1601T																					ENST00000396618.3:c.271C>T	p.Arg91Ter	p.R91*	ENST00000396618	NM_004086.2	91	Cga/Tga	0	not done		damaging	
NEUROD6		inserm.fr	GRCh37	7	31378307	31378307	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000297142.3:c.576G>A	p.Gln192=	p.Q192=	ENST00000297142	NM_022728.3	192	caG/caA	0	not done		synonymous	
NEUROD6		inserm.fr	GRCh37	7	31378592	31378592	+	synonymous_variant	Silent	SNP	C	T	T			BCM695T																					ENST00000297142.3:c.291G>A	p.Gln97=	p.Q97=	ENST00000297142	NM_022728.3	97	caG/caA	0	validated		synonymous	
MICA		inserm.fr	GRCh37	6	31379881	31379881	+	synonymous_variant	Silent	SNP	G	T	T			CHC1731T																					ENST00000449934.2:c.771G>T	p.Leu257=	p.L257=	ENST00000449934	NM_001177519.1	257	ctG/ctT	0	not done		synonymous	
ITGAX		inserm.fr	GRCh37	16	31393139	31393139	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2127T																					ENST00000268296.4:c.3403C>T	p.Arg1135Cys	p.R1135C	ENST00000268296	NM_000887.3	1135	Cgt/Tgt	0	not done		probablydamaging	
ZSCAN10		inserm.fr	GRCh37	16	3140523	3140523	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1079T																					ENST00000252463.2:c.747C>A	p.Cys249Ter	p.C249*	ENST00000252463	NM_032805.1	249	tgC/tgA	0	not done		damaging	
DROSHA		inserm.fr	GRCh37	5	31405805	31405805	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000344624.3:c.3973G>A	p.Ala1325Thr	p.A1325T	ENST00000344624		1325	Gca/Aca	0	not done		probablydamaging	
BPHL		inserm.fr	GRCh37	6	3140693	3140693	+	synonymous_variant	Silent	SNP	G	T	T			CHC1205T																					ENST00000380379.5:c.738G>T	p.Leu246=	p.L246=	ENST00000380379	NM_004332.2	246	ctG/ctT	0	not done		synonymous	
PUM1		inserm.fr	GRCh37	1	31409546	31409546	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000426105.2:c.3379G>A	p.Val1127Ile	p.V1127I	ENST00000426105		1127	Gtc/Atc	0	not done		benign	
CAPN14		inserm.fr	GRCh37	2	31416018	31416018	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000403897.3:c.1093G>A	p.Gly365Ser	p.G365S	ENST00000403897	NM_001145122.1	365	Ggc/Agc	0	not done		probablydamaging	
OSBPL5		inserm.fr	GRCh37	11	3141792	3141792	+	synonymous_variant	Silent	SNP	G	T	T			CHC2321T																					ENST00000263650.7:c.465C>A	p.Leu155=	p.L155=	ENST00000263650	NM_020896.3	155	ctC/ctA	0	validated		synonymous	
CAPN14		inserm.fr	GRCh37	2	31428157	31428157	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM723T																					ENST00000403897.3:c.157C>A	p.Leu53Met	p.L53M	ENST00000403897	NM_001145122.1	53	Ctg/Atg	0	validated		benign	
ASIC2		inserm.fr	GRCh37	17	31438973	31438973	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2127T																					ENST00000225823.2:c.821T>A	p.Ile274Asn	p.I274N	ENST00000225823	NM_183377.1	274	aTt/aAt	0	not done		probablydamaging	
COX6A2		inserm.fr	GRCh37	16	31439098	31439098	+	synonymous_variant	Silent	SNP	G	T	T			CHC1137T																					ENST00000287490.4:c.291C>A	p.Pro97=	p.P97=	ENST00000287490	NM_005205.3	97	ccC/ccA	0	validated		synonymous	
ZNF843		inserm.fr	GRCh37	16	31447288	31447288	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB109T																					ENST00000315678.5:c.883G>A	p.Ala295Thr	p.A295T	ENST00000315678	NM_001136509.1	295	Gcc/Acc	0	validated		benign	
EHD3		inserm.fr	GRCh37	2	31457573	31457573	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1207T																					ENST00000322054.5:c.86A>T	p.Tyr29Phe	p.Y29F	ENST00000322054	NM_014600.2	29	tAc/tTc	0	not done		probablydamaging	
NOL4		inserm.fr	GRCh37	18	31463244	31463244	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261592.5:c.1687G>A	p.Gly563Arg	p.G563R	ENST00000261592	NM_001198546.1	563	Ggg/Agg	0	not done		possiblydamaging	
ARMC5		inserm.fr	GRCh37	16	31471280	31471280	+	synonymous_variant	Silent	SNP	C	T	T			CHC197T																					ENST00000268314.4:c.435C>T	p.Cys145=	p.C145=	ENST00000268314	NM_001105247.1	145	tgC/tgT	0	validated		synonymous	
ProSAPiP1		inserm.fr	GRCh37	20	3147549	3147549	+	synonymous_variant	Silent	SNP	G	T	T			CHC121T																					ENST00000329152.3:c.261C>A	p.Pro87=	p.P87=	ENST00000329152	NM_014731.2	87	ccC/ccA	0	validated		synonymous	
ARMC5		inserm.fr	GRCh37	16	31475864	31475864	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM501T																					ENST00000268314.4:c.1520C>T	p.Pro507Leu	p.P507L	ENST00000268314	NM_001105247.1	507	cCg/cTg	0	validated		benign	
ARMC5		inserm.fr	GRCh37	16	31477529	31477529	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1035T									Valid												ENST00000268314.4:c.2127A>T	p.Gln709His	p.Q709H	ENST00000268314	NM_001105247.1	709	caA/caT	0	validated		probablydamaging	
SMTN		inserm.fr	GRCh37	22	31479225	31479225	+	5_prime_UTR_variant	5'UTR	SNP	C	T	T			CHC1191T																					ENST00000358743.1:c.-20C>T		*7*	ENST00000358743	NM_134270.2			0	not done			
MEDAG		inserm.fr	GRCh37	13	31480812	31480812	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000380482.4:c.160C>T	p.Gln54Ter	p.Q54*	ENST00000380482	NM_032849.3	54	Cag/Tag	0	not done		damaging	
EHD3		inserm.fr	GRCh37	2	31484420	31484420	+	synonymous_variant	Silent	SNP	C	T	T			BCM783T																					ENST00000322054.5:c.921C>T	p.His307=	p.H307=	ENST00000322054	NM_014600.2	307	caC/caT	0	validated		synonymous	
DMD		inserm.fr	GRCh37	X	31497130	31497130	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1044T																					ENST00000357033.4:c.8638G>A	p.Gly2880Arg	p.G2880R	ENST00000357033	NM_004007.2	2880	Gga/Aga	0	not done		probablydamaging	
SELM		inserm.fr	GRCh37	22	31501671	31501671	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2048T																					ENST00000402395.1:c.173C>A	p.Ala58Asp	p.A58D	ENST00000402395		58	gCt/gAt	0	validated		probablydamaging	
PLA2G3		inserm.fr	GRCh37	22	31532988	31532988	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000215885.3:c.1105G>A	p.Asp369Asn	p.D369N	ENST00000215885	NM_015715.3	369	Gac/Aac	0	not done		probablydamaging	
PLA2G3		inserm.fr	GRCh37	22	31536306	31536306	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1211T																					ENST00000215885.3:c.35G>A	p.Gly12Asp	p.G12D	ENST00000215885	NM_015715.3	12	gGc/gAc	0	not done		benign	
C5orf22		inserm.fr	GRCh37	5	31538399	31538399	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC304T																					ENST00000325366.9:c.410A>T	p.Asp137Val	p.D137V	ENST00000325366	NM_018356.2	137	gAt/gTt	0	validated		probablydamaging	
CLDN17		inserm.fr	GRCh37	21	31538674	31538674	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM423T																					ENST00000286808.3:c.262G>A	p.Val88Ile	p.V88I	ENST00000286808	NM_012131.2	88	Gtt/Att	0	validated		benign	
AHSP		inserm.fr	GRCh37	16	31539533	31539533	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	T	T			BCM689T									Valid												ENST00000302312.4:c.73C>T	p.Gln25Ter	p.Q25*	ENST00000302312	NM_016633.2	25	Cag/Tag	0	validated		damaging	
STT3B		inserm.fr	GRCh37	3	31574505	31574505	+	synonymous_variant	Silent	SNP	G	T	T			CHC307T																					ENST00000295770.2:c.15G>T	p.Ser5=	p.S5=	ENST00000295770	NM_178862.1	5	tcG/tcT	0	validated		synonymous	
SUN5		inserm.fr	GRCh37	20	31585463	31585463	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1626T																					ENST00000356173.3:c.371C>A	p.Ser124Ter	p.S124*	ENST00000356173	NM_080675.3	124	tCg/tAg	0	not done		damaging	
CLDN8		inserm.fr	GRCh37	21	31588148	31588148	+	synonymous_variant	Silent	SNP	C	T	T			CHC1749T																					ENST00000399899.1:c.96G>A	p.Val32=	p.V32=	ENST00000399899	NM_199328.2	32	gtG/gtA	0	not done		synonymous	
BPIFB2		inserm.fr	GRCh37	20	31596399	31596399	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000170150.3:c.19C>T	p.Leu7=	p.L7=	ENST00000170150	NM_025227.2	7	Ctg/Ttg	0	not done		synonymous	
PRRC2A		inserm.fr	GRCh37	6	31599031	31599031	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1611T																					ENST00000376033.2:c.2581C>T	p.Pro861Ser	p.P861S	ENST00000376033	NM_004638.3	861	Ccc/Tcc	0	not done		benign	
CCDC129		inserm.fr	GRCh37	7	31617921	31617921	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1044T																					ENST00000451887.2:c.1121C>T	p.Pro374Leu	p.P374L	ENST00000451887	NM_001257968.1	374	cCt/cTt	0	not done		benign	
ASIC2		inserm.fr	GRCh37	17	31619119	31619119	+	synonymous_variant	Silent	SNP	G	T	T			CHC796T																					ENST00000225823.2:c.15C>A	p.Gly5=	p.G5=	ENST00000225823	NM_183377.1	5	ggC/ggA	0	validated		synonymous	
KLF13		inserm.fr	GRCh37	15	31619442	31619442	+	synonymous_variant	Silent	SNP	C	T	T			CHC465T																					ENST00000307145.3:c.27C>T	p.His9=	p.H9=	ENST00000307145	NM_015995.2	9	caC/caT	0	validated		synonymous	
HECTD1		inserm.fr	GRCh37	14	31626501	31626501	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000399332.1:c.1631G>A	p.Ser544Asn	p.S544N	ENST00000399332	NM_015382.2	544	aGt/aAt	0	not done		probablydamaging	
LY6G5B		inserm.fr	GRCh37	6	31639973	31639973	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1732T																					ENST00000375864.4:c.520G>T	p.Glu174Ter	p.E174*	ENST00000375864	NM_021221.2	174	Gag/Tag	0	not done		damaging	
LIMK2		inserm.fr	GRCh37	22	31654301	31654301	+	synonymous_variant	Silent	SNP	C	T	T			CHC1720T																					ENST00000340552.4:c.78C>T	p.Leu26=	p.L26=	ENST00000340552	NM_001031801.1	26	ctC/ctT	0	not done		synonymous	
KRTAP24-1		inserm.fr	GRCh37	21	31655056	31655056	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC796T									Valid												ENST00000340345.4:c.195C>A	p.Tyr65Ter	p.Y65*	ENST00000340345	NM_001085455.1	65	taC/taA	0	validated		damaging	
BPIFB4		inserm.fr	GRCh37	20	31670744	31670744	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375483.3:c.107C>T	p.Ala36Val	p.A36V	ENST00000375483	NM_182519.2	36	gCc/gTc	0	not done		benign	
BPIFB4		inserm.fr	GRCh37	20	31673936	31673936	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1725T																					ENST00000375483.3:c.892C>T	p.Leu298Phe	p.L298F	ENST00000375483	NM_182519.2	298	Ctc/Ttc	0	not done		probablydamaging	
LY6G6F		inserm.fr	GRCh37	6	31675377	31675377	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000375832.4:c.195C>T	p.Val65=	p.V65=	ENST00000375832	NM_001003693.1	65	gtC/gtT	0	not done		synonymous	
LY6G6F		inserm.fr	GRCh37	6	31675500	31675500	+	synonymous_variant	Silent	SNP	C	T	T			CHC912T																					ENST00000375832.4:c.318C>T	p.Cys106=	p.C106=	ENST00000375832	NM_001003693.1	106	tgC/tgT	0	validated		synonymous	
LY6G6F		inserm.fr	GRCh37	6	31675695	31675695	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1545T																					ENST00000375832.4:c.430C>T	p.Leu144Phe	p.L144F	ENST00000375832	NM_001003693.1	144	Ctc/Ttc	0	not done		probablydamaging	
BPIFB4		inserm.fr	GRCh37	20	31677357	31677357	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000375483.3:c.1044C>T	p.Leu348=	p.L348=	ENST00000375483	NM_182519.2	348	ctC/ctT	0	not done		synonymous	
CLIC1		inserm.fr	GRCh37	6	31701433	31701433	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375780.2:c.292G>A	p.Ala98Thr	p.A98T	ENST00000375780	NM_001287593.1	98	Gct/Act	0	not done		possiblydamaging	
KRTAP27-1		inserm.fr	GRCh37	21	31709740	31709740	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC155T																					ENST00000382835.2:c.247G>A	p.Gly83Arg	p.G83R	ENST00000382835	NM_001077711.1	83	Gga/Aga	0	validated		benign	
OSBPL10		inserm.fr	GRCh37	3	31710266	31710266	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1186T																					ENST00000396556.2:c.1964C>A	p.Ala655Asp	p.A655D	ENST00000396556	NM_017784.4	655	gCc/gAc	0	not done		probablydamaging	
HSPH1		inserm.fr	GRCh37	13	31728825	31728825	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM489T																					ENST00000320027.5:c.374T>A	p.Leu125Gln	p.L125Q	ENST00000320027	NM_006644.2	125	cTg/cAg	0	validated		probablydamaging	
BPIFA2		inserm.fr	GRCh37	20	31763220	31763220	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1602T																					ENST00000253362.2:c.418A>T	p.Ile140Phe	p.I140F	ENST00000253362		140	Att/Ttt	0	not done		possiblydamaging	
TSHZ3		inserm.fr	GRCh37	19	31768152	31768152	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM759T																					ENST00000240587.4:c.2547T>A	p.Asp849Glu	p.D849E	ENST00000240587	NM_020856.2	849	gaT/gaA	0	validated		probablydamaging	
TSHZ3		inserm.fr	GRCh37	19	31768524	31768524	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000240587.4:c.2175G>A	p.Leu725=	p.L725=	ENST00000240587	NM_020856.2	725	ctG/ctA	0	not done		synonymous	
TSHZ3		inserm.fr	GRCh37	19	31769373	31769373	+	synonymous_variant	Silent	SNP	G	T	T			CHC121T																					ENST00000240587.4:c.1326C>A	p.Val442=	p.V442=	ENST00000240587	NM_020856.2	442	gtC/gtA	0	validated		synonymous	
TSHZ3		inserm.fr	GRCh37	19	31770366	31770366	+	synonymous_variant	Silent	SNP	C	T	T			CHC1207T																					ENST00000240587.4:c.333G>A	p.Val111=	p.V111=	ENST00000240587	NM_020856.2	111	gtG/gtA	0	not done		synonymous	
HSPA1L		inserm.fr	GRCh37	6	31778358	31778358	+	synonymous_variant	Silent	SNP	A	T	T			CHC1743T																					ENST00000375654.4:c.1392T>A	p.Thr464=	p.T464=	ENST00000375654	NM_005527.3	464	acT/acA	0	not done		synonymous	
S1PR4		inserm.fr	GRCh37	19	3179000	3179000	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000246115.3:c.210C>T	p.Ala70=	p.A70=	ENST00000246115	NM_003775.3	70	gcC/gcT	0	not done		synonymous	
S1PR4		inserm.fr	GRCh37	19	3179464	3179464	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000246115.3:c.674C>T	p.Ala225Val	p.A225V	ENST00000246115	NM_003775.3	225	gCc/gTc	0	not done		probablydamaging	
KRTAP13-4		inserm.fr	GRCh37	21	31802875	31802875	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000334068.2:c.282C>T	p.Ser94=	p.S94=	ENST00000334068	NM_181600.1	94	tcC/tcT	0	not done		synonymous	
NEU1		inserm.fr	GRCh37	6	31827530	31827530	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2113T																					ENST00000375631.4:c.1214C>A	p.Ser405Tyr	p.S405Y	ENST00000375631	NM_000434.3	405	tCc/tAc	0	not done		probablydamaging	
SLC44A4		inserm.fr	GRCh37	6	31843849	31843849	+	synonymous_variant	Silent	SNP	G	T	T			CHC197T																					ENST00000229729.6:c.147C>A	p.Ile49=	p.I49=	ENST00000229729	NM_025257.2	49	atC/atA	0	validated		synonymous	
PDE1C		inserm.fr	GRCh37	7	31848707	31848707	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1601T																					ENST00000396193.1:c.2009G>A	p.Gly670Asp	p.G670D	ENST00000396193	NM_001191058.1	670	gGt/gAt	0	not done		benign	
EIF4ENIF1		inserm.fr	GRCh37	22	31854540	31854540	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1744T																					ENST00000397525.1:c.884C>A	p.Ala295Asp	p.A295D	ENST00000397525	NM_001164501.1	295	gCt/gAt	0	not done		possiblydamaging	
EHMT2		inserm.fr	GRCh37	6	31857313	31857313	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375537.4:c.931G>A	p.Glu311Lys	p.E311K	ENST00000375537	NM_006709.3	311	Gaa/Aaa	0	not done		possiblydamaging	
KRTAP19-2		inserm.fr	GRCh37	21	31859642	31859642	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM683T																					ENST00000334055.3:c.26G>A	p.Cys9Tyr	p.C9Y	ENST00000334055	NM_181608.1	9	tGt/tAt	0	validated		benign	
LOC392621		inserm.fr	GRCh37	7	3188653	3188653	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000402115.1:c.142G>A	p.Ala48Thr	p.A48T	ENST00000402115		48	Gcc/Acc	0	not done			
C2		inserm.fr	GRCh37	6	31901474	31901474	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000299367.5:c.530G>T	p.Cys177Phe	p.C177F	ENST00000299367	NM_000063.4	177	tGc/tTc	0	not done		probablydamaging	
PDE1C		inserm.fr	GRCh37	7	31918787	31918787	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM695T																					ENST00000396193.1:c.427C>A	p.Leu143Ile	p.L143I	ENST00000396193	NM_001191058.1	143	Ctc/Atc	0	validated		possiblydamaging	
NELFE		inserm.fr	GRCh37	6	31921597	31921597	+	synonymous_variant	Silent	SNP	G	T	T			CHC2358T																					ENST00000375429.3:c.954C>A	p.Thr318=	p.T318=	ENST00000375429	NM_002904.5	318	acC/acA	0	validated		synonymous	
KRTAP19-7		inserm.fr	GRCh37	21	31933567	31933567	+	synonymous_variant	Silent	SNP	G	T	T			CHC1185T																					ENST00000334849.2:c.42C>A	p.Gly14=	p.G14=	ENST00000334849	NM_181614.1	14	ggC/ggA	0	not done		synonymous	
STK19		inserm.fr	GRCh37	6	31948509	31948509	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2029T																					ENST00000375331.2:c.980C>T	p.Ala327Val	p.A327V	ENST00000375331	NM_004197.1	327	gCg/gTg	0	validated		benign	
SFI1		inserm.fr	GRCh37	22	31952977	31952977	+	synonymous_variant	Silent	SNP	G	T	T			CHC1749T																					ENST00000400288.2:c.594G>T	p.Val198=	p.V198=	ENST00000400288	NM_001007467.2	198	gtG/gtT	0	not done		synonymous	
KRTAP6-2		inserm.fr	GRCh37	21	31971133	31971133	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1052T																					ENST00000334897.3:c.61G>A	p.Glu21Lys	p.E21K	ENST00000334897	NM_181604.1	21	Gaa/Aaa	0	validated		benign	
KRTAP6-2		inserm.fr	GRCh37	21	31971143	31971143	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1209T																					ENST00000334897.3:c.51C>A	p.Cys17Ter	p.C17*	ENST00000334897	NM_181604.1	17	tgC/tgA	0	not done		damaging	
SNTA1		inserm.fr	GRCh37	20	32005674	32005674	+	synonymous_variant	Silent	SNP	C	T	T			CHC1205T																					ENST00000217381.2:c.552G>A	p.Ser184=	p.S184=	ENST00000217381	NM_003098.2	184	tcG/tcA	0	not done		synonymous	
CYP21A2		inserm.fr	GRCh37	6	32006962	32006962	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000418967.2:c.384G>T	p.Leu128=	p.L128=	ENST00000418967	NM_000500.7	128	ctG/ctT	0	validated		synonymous	
TNXB		inserm.fr	GRCh37	6	32017817	32017817	+	upstream_gene_variant	5'Flank	SNP	C	T	T			CHC884T																								ENST00000451343	NM_032470.3			0	validated		benign	
TNXB		inserm.fr	GRCh37	6	32017881	32017881	+	upstream_gene_variant	5'Flank	SNP	G	T	T			CHC794T																								ENST00000451343	NM_032470.3			0	validated		possiblydamaging	
TNXB		inserm.fr	GRCh37	6	32018026	32018026	+	upstream_gene_variant	5'Flank	SNP	A	T	T			CHC1148T																								ENST00000451343	NM_032470.3			0	not done		probablydamaging	
TNXB		inserm.fr	GRCh37	6	32029427	32029427	+	synonymous_variant	Silent	SNP	G	T	T			CHC2099T																					ENST00000375244.3:c.7239C>A	p.Leu2413=	p.L2413=	ENST00000375244		2413	ctC/ctA	0	not done		synonymous	
TNXB		inserm.fr	GRCh37	6	32036709	32036709	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2052T																					ENST00000375244.3:c.5792G>A	p.Arg1931Gln	p.R1931Q	ENST00000375244		1931	cGg/cAg	0	not done		benign	
CSMD1		inserm.fr	GRCh37	8	3205676	3205676	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC307T									Valid												ENST00000537824.1:c.3312T>A	p.Cys1104Ter	p.C1104*	ENST00000537824	NM_033225.5	1104	tgT/tgA	0	validated		damaging	
TNXB		inserm.fr	GRCh37	6	32063619	32063619	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC909T																					ENST00000375244.3:c.2011G>A	p.Val671Met	p.V671M	ENST00000375244		671	Gtg/Atg	0	not done		possiblydamaging	
TNXB		inserm.fr	GRCh37	6	32064116	32064116	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC961T																					ENST00000375244.3:c.1514G>A	p.Gly505Glu	p.G505E	ENST00000375244		505	gGg/gAg	0	validated		probablydamaging	
PRR14L		inserm.fr	GRCh37	22	32072800	32072800	+	downstream_gene_variant	3'Flank	SNP	C	T	T			CHC892T																								ENST00000327423	NM_173566.2			0	not done		damaging	
PITRM1		inserm.fr	GRCh37	10	3208566	3208566	+	synonymous_variant	Silent	SNP	C	T	T			CHC1708T																					ENST00000380989.2:c.273G>A	p.Gln91=	p.Q91=	ENST00000380989	NM_014889.3	91	caG/caA	0	not done		synonymous	
PDZD2		inserm.fr	GRCh37	5	32087274	32087274	+	synonymous_variant	Silent	SNP	G	T	T			CHC2141T																					ENST00000438447.1:c.3720G>T	p.Gly1240=	p.G1240=	ENST00000438447		1240	ggG/ggT	0	not done		synonymous	
HCRTR1		inserm.fr	GRCh37	1	32089283	32089283	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000403528.2:c.898C>T	p.Leu300=	p.L300=	ENST00000403528	NM_001525.2	300	Ctg/Ttg	0	not done		synonymous	
PDZD2		inserm.fr	GRCh37	5	32090051	32090051	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1700T																					ENST00000438447.1:c.6497A>T	p.Lys2166Ile	p.K2166I	ENST00000438447		2166	aAa/aTa	0	not done		possiblydamaging	
ARHGAP12		inserm.fr	GRCh37	10	32103215	32103215	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000344936.2:c.1806G>A	p.Lys602=	p.K602=	ENST00000344936	NM_001270697.1	602	aaG/aaA	0	not done		synonymous	
PRRT1		inserm.fr	GRCh37	6	32117110	32117110	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1756T																					ENST00000211413.5:c.810C>A	p.Asn270Lys	p.N270K	ENST00000211413	NM_030651.3	270	aaC/aaA	0	not done		probablydamaging	
RCN1		inserm.fr	GRCh37	11	32125027	32125027	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC1731T																					ENST00000054950.3:c.888+1G>T		p.X296_splice	ENST00000054950	NM_002901.2			0	not done		possiblydamaging	
GOLPH3		inserm.fr	GRCh37	5	32126383	32126383	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2200T																					ENST00000265070.6:c.832G>A	p.Val278Met	p.V278M	ENST00000265070	NM_022130.3	278	Gtg/Atg	0	not done		benign	
GOLPH3		inserm.fr	GRCh37	5	32126488	32126488	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265070.6:c.727G>A	p.Ala243Thr	p.A243T	ENST00000265070	NM_022130.3	243	Gct/Act	0	not done		probablydamaging	
GOLPH3		inserm.fr	GRCh37	5	32126683	32126683	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1626T																					ENST00000265070.6:c.532G>A	p.Ala178Thr	p.A178T	ENST00000265070	NM_022130.3	178	Gct/Act	0	not done		probablydamaging	
COL16A1		inserm.fr	GRCh37	1	32126697	32126697	+	synonymous_variant	Silent	SNP	G	T	T			CHC302T																					ENST00000373672.3:c.3795C>A	p.Pro1265=	p.P1265=	ENST00000373672	NM_001856.3	1265	ccC/ccA	0	validated		synonymous	
COL16A1		inserm.fr	GRCh37	1	32131520	32131520	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1591T																					ENST00000373672.3:c.3419G>A	p.Arg1140Gln	p.R1140Q	ENST00000373672	NM_001856.3	1140	cGa/cAa	0	not done		probablydamaging	
EGFL8		inserm.fr	GRCh37	6	32134968	32134968	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1207T																					ENST00000395512.1:c.535G>T	p.Asp179Tyr	p.D179Y	ENST00000395512		179	Gac/Tac	0	not done		probablydamaging	
KIAA1551		inserm.fr	GRCh37	12	32138122	32138122	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1040T																					ENST00000312561.4:c.4233G>T	p.Leu1411Phe	p.L1411F	ENST00000312561	NM_018169.3	1411	ttG/ttT	0	not done		benign	
COL16A1		inserm.fr	GRCh37	1	32138381	32138381	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000373672.3:c.2920G>A	p.Gly974Arg	p.G974R	ENST00000373672	NM_001856.3	974	Gga/Aga	0	not done		probablydamaging	
COL16A1		inserm.fr	GRCh37	1	32155405	32155405	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T																					ENST00000373672.3:c.1557C>A	p.Asn519Lys	p.N519K	ENST00000373672	NM_001856.3	519	aaC/aaA	0	validated		benign	
COL16A1		inserm.fr	GRCh37	1	32159770	32159770	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	T	T			CHC1154T																					ENST00000373672.3:c.983T>A	p.Val328Asp	p.V328D	ENST00000373672	NM_001856.3	328	gTc/gAc	0	not done		probablydamaging	
COL16A1		inserm.fr	GRCh37	1	32160797	32160797	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1756T																					ENST00000373672.3:c.971G>A	p.Arg324Gln	p.R324Q	ENST00000373672	NM_001856.3	324	cGg/cAg	0	validated		benign	
NOTCH4		inserm.fr	GRCh37	6	32163489	32163489	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB109T																					ENST00000375023.3:c.5737G>A	p.Gly1913Ser	p.G1913S	ENST00000375023	NM_004557.3	1913	Ggc/Agc	0	validated		benign	
NOTCH4		inserm.fr	GRCh37	6	32170282	32170282	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375023.3:c.3326G>A	p.Gly1109Asp	p.G1109D	ENST00000375023	NM_004557.3	1109	gGc/gAc	0	not done		possiblydamaging	
NOTCH4		inserm.fr	GRCh37	6	32189082	32189082	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB307T																					ENST00000375023.3:c.472G>A	p.Asp158Asn	p.D158N	ENST00000375023	NM_004557.3	158	Gac/Aac	0	validated		probablydamaging	
KRTAP7-1		inserm.fr	GRCh37	21	32201868	32201868	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC1044T																					ENST00000452750.1:n.211G>A		*71*	ENST00000452750				0	not done		benign	
BAI2		inserm.fr	GRCh37	1	32205564	32205564	+	synonymous_variant	Silent	SNP	C	T	T			CHC469T																					ENST00000373658.3:c.2130G>A	p.Lys710=	p.K710=	ENST00000373658	NM_001703.2	710	aaG/aaA	0	validated		synonymous	
PDE1C		inserm.fr	GRCh37	7	32209470	32209470	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1052T																					ENST00000396193.1:c.235C>A	p.Pro79Thr	p.P79T	ENST00000396193	NM_001191058.1	79	Ccc/Acc	0	validated			
BAI2		inserm.fr	GRCh37	1	32221613	32221613	+	synonymous_variant	Silent	SNP	G	T	T			CHC307T																					ENST00000373658.3:c.825C>A	p.Thr275=	p.T275=	ENST00000373658	NM_001703.2	275	acC/acA	0	validated		synonymous	
CSMD1		inserm.fr	GRCh37	8	3224618	3224618	+	synonymous_variant	Silent	SNP	A	T	T			BCM399T																					ENST00000537824.1:c.3051T>A	p.Thr1017=	p.T1017=	ENST00000537824	NM_033225.5	1017	acT/acA	0	validated		synonymous	
NECAB3		inserm.fr	GRCh37	20	32258531	32258531	+	synonymous_variant	Silent	SNP	C	T	T			CHC155T																					ENST00000246190.6:c.222G>A	p.Glu74=	p.E74=	ENST00000246190	NM_031232.3	74	gaG/gaA	0	validated		synonymous	
E2F1		inserm.fr	GRCh37	20	32267656	32267656	+	synonymous_variant	Silent	SNP	C	T	T			CHC2113T																					ENST00000343380.5:c.477G>A	p.Val159=	p.V159=	ENST00000343380	NM_005225.2	159	gtG/gtA	0	not done		synonymous	
SPOCD1		inserm.fr	GRCh37	1	32280277	32280277	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1774T																					ENST00000360482.2:c.658G>A	p.Glu220Lys	p.E220K	ENST00000360482	NM_144569.4	220	Gaa/Aaa	0	validated		probablydamaging	
MXRA5		inserm.fr	GRCh37	X	3229345	3229345	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC891T																					ENST00000217939.6:c.6899G>A	p.Arg2300His	p.R2300H	ENST00000217939	NM_015419.3	2300	cGc/cAc	0	not done		probablydamaging	
RXFP2		inserm.fr	GRCh37	13	32355868	32355868	+	synonymous_variant	Silent	SNP	G	T	T			CHC902T																					ENST00000298386.2:c.846G>T	p.Ser282=	p.S282=	ENST00000298386	NM_130806.3	282	tcG/tcT	0	not done		synonymous	
ZFR		inserm.fr	GRCh37	5	32355878	32355878	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1596T																					ENST00000265069.8:c.3213T>A	p.Tyr1071Ter	p.Y1071*	ENST00000265069	NM_016107.3	1071	taT/taA	0	validated		damaging	
DMD		inserm.fr	GRCh37	X	32366619	32366619	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000357033.4:c.5352G>A	p.Glu1784=	p.E1784=	ENST00000357033	NM_004007.2	1784	gaG/gaA	0	not done		synonymous	
RXFP2		inserm.fr	GRCh37	13	32366981	32366981	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000298386.2:c.1542C>T	p.Thr514=	p.T514=	ENST00000298386	NM_130806.3	514	acC/acT	0	not done		synonymous	
BTNL2		inserm.fr	GRCh37	6	32370878	32370878	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000454136.3:c.543G>A	p.Arg181=	p.R181=	ENST00000454136		181	cgG/cgA	0	not done		synonymous	
DMD		inserm.fr	GRCh37	X	32382707	32382707	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC898T																					ENST00000357033.4:c.5146G>A	p.Val1716Met	p.V1716M	ENST00000357033	NM_004007.2	1716	Gtg/Atg	0	not done		benign	
MRGPRG		inserm.fr	GRCh37	11	3239236	3239236	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000332314.3:c.808G>A	p.Ala270Thr	p.A270T	ENST00000332314	NM_001164377.1	270	Gcc/Acc	0	not done			
CSMD1		inserm.fr	GRCh37	8	3245168	3245168	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000537824.1:c.2630G>A	p.Gly877Asp	p.G877D	ENST00000537824	NM_033225.5	877	gGc/gAc	0	not done		probablydamaging	
KHDRBS1		inserm.fr	GRCh37	1	32479803	32479803	+	synonymous_variant	Silent	SNP	C	T	T			CHC051T																					ENST00000327300.7:c.207C>T	p.Pro69=	p.P69=	ENST00000327300	NM_006559.2	69	ccC/ccT	0	validated		synonymous	
RGS11		inserm.fr	GRCh37	16	325033	325033	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000397770.3:c.261G>A	p.Pro87=	p.P87=	ENST00000397770		87	ccG/ccA	0	not done		synonymous	
TOPORS		inserm.fr	GRCh37	9	32542384	32542384	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000360538.2:c.2139G>A	p.Arg713=	p.R713=	ENST00000360538	NM_005802.4	713	agG/agA	0	not done		synonymous	
TOPORS		inserm.fr	GRCh37	9	32544286	32544286	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1751T																					ENST00000360538.2:c.237C>A	p.Asn79Lys	p.N79K	ENST00000360538	NM_005802.4	79	aaC/aaA	0	not done		benign	
HLA-DRB1		inserm.fr	GRCh37	6	32548534	32548534	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2352T																					ENST00000360004.5:c.752G>A	p.Arg251Lys	p.R251K	ENST00000360004	NM_002124.3	251	aGg/aAg	0	not done		benign	
HLA-DRB1		inserm.fr	GRCh37	6	32548554	32548554	+	synonymous_variant	Silent	SNP	G	T	T			CHC059T																					ENST00000360004.5:c.732C>A	p.Ala244=	p.A244=	ENST00000360004	NM_002124.3	244	gcC/gcA	0	validated		synonymous	
RFPL2		inserm.fr	GRCh37	22	32587266	32587266	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1717T																					ENST00000400237.1:c.630T>A	p.Ser210Arg	p.S210R	ENST00000400237		210	agT/agA	0	not done		probablydamaging	
EPC1		inserm.fr	GRCh37	10	32594698	32594698	+	splice_donor_variant	Splice_Site	SNP	A	T	T			BCM739T									Valid												ENST00000263062.8:c.313+2T>A		p.X105_splice	ENST00000263062	NM_025209.3			0	validated		damaging	
TIAM1		inserm.fr	GRCh37	21	32598249	32598249	+	synonymous_variant	Silent	SNP	C	T	T			CHC898T																					ENST00000286827.3:c.1602G>A	p.Glu534=	p.E534=	ENST00000286827	NM_003253.2	534	gaG/gaA	0	not done		synonymous	
DYNC1LI1		inserm.fr	GRCh37	3	32611881	32611881	+	synonymous_variant	Silent	SNP	G	T	T			BCM739T																					ENST00000273130.4:c.177C>A	p.Arg59=	p.R59=	ENST00000273130	NM_016141.3	59	cgC/cgA	0	validated		synonymous	
TAF1L		inserm.fr	GRCh37	9	32630361	32630361	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000242310.4:c.5217G>A	p.Gly1739=	p.G1739=	ENST00000242310	NM_153809.2	1739	ggG/ggA	0	not done		synonymous	
TAF1L		inserm.fr	GRCh37	9	32632131	32632131	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000242310.4:c.3447G>A	p.Arg1149=	p.R1149=	ENST00000242310	NM_153809.2	1149	cgG/cgA	0	not done		synonymous	
TAF1L		inserm.fr	GRCh37	9	32632396	32632396	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000242310.4:c.3182G>A	p.Gly1061Glu	p.G1061E	ENST00000242310	NM_153809.2	1061	gGg/gAg	0	not done		benign	
TAF1L		inserm.fr	GRCh37	9	32633519	32633519	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB325T									Valid												ENST00000242310.4:c.2059C>A	p.Pro687Thr	p.P687T	ENST00000242310	NM_153809.2	687	Cct/Act	0	validated		possiblydamaging	
TAF1L		inserm.fr	GRCh37	9	32634883	32634883	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM483T																					ENST00000242310.4:c.695C>A	p.Ala232Asp	p.A232D	ENST00000242310	NM_153809.2	232	gCt/gAt	0	validated		benign	
TAF1L		inserm.fr	GRCh37	9	32634884	32634884	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM483T																					ENST00000242310.4:c.694G>A	p.Ala232Thr	p.A232T	ENST00000242310	NM_153809.2	232	Gct/Act	0	validated		benign	
TIAM1		inserm.fr	GRCh37	21	32638651	32638651	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000286827.3:c.638G>A	p.Gly213Glu	p.G213E	ENST00000286827	NM_003253.2	213	gGg/gAg	0	not done		benign	
TIAM1		inserm.fr	GRCh37	21	32638917	32638917	+	synonymous_variant	Silent	SNP	C	T	T			BCM695T																					ENST00000286827.3:c.372G>A	p.Gln124=	p.Q124=	ENST00000286827	NM_003253.2	124	caG/caA	0	validated		synonymous	
CCL8		inserm.fr	GRCh37	17	32646575	32646575	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000394620.1:c.55C>T	p.Pro19Ser	p.P19S	ENST00000394620	NM_005623.2	19	Cct/Tct	0	not done		benign	
CSMD1		inserm.fr	GRCh37	8	3267077	3267077	+	synonymous_variant	Silent	SNP	G	T	T			CHC2362T																					ENST00000537824.1:c.1612C>A	p.Arg538=	p.R538=	ENST00000537824	NM_033225.5	538	Cgg/Agg	0	validated		synonymous	
C20orf194		inserm.fr	GRCh37	20	3268429	3268429	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000252032.9:c.2335G>A	p.Val779Met	p.V779M	ENST00000252032	NM_001009984.2	779	Gtg/Atg	0	not done		possiblydamaging	
BIRC6		inserm.fr	GRCh37	2	32693714	32693714	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000421745.2:c.5990C>T	p.Ala1997Val	p.A1997V	ENST00000421745	NM_016252.3	1997	gCg/gTg	0	validated		probablydamaging	
C20orf194		inserm.fr	GRCh37	20	3270816	3270816	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000252032.9:c.2286G>A	p.Glu762=	p.E762=	ENST00000252032	NM_001009984.2	762	gaG/gaA	0	not done		synonymous	
HLA-DQA2		inserm.fr	GRCh37	6	32713109	32713109	+	synonymous_variant	Silent	SNP	C	T	T			CHC1741T																					ENST00000374940.3:c.256C>T	p.Leu86=	p.L86=	ENST00000374940	NM_020056.4	86	Ctg/Ttg	0	not done		synonymous	
HLA-DQA2		inserm.fr	GRCh37	6	32713171	32713171	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000374940.3:c.318C>T	p.Thr106=	p.T106=	ENST00000374940	NM_020056.4	106	acC/acT	0	not done		synonymous	
LCK		inserm.fr	GRCh37	1	32740637	32740637	+	synonymous_variant	Silent	SNP	C	T	T			CHC1592T																					ENST00000336890.5:c.231C>T	p.Asp77=	p.D77=	ENST00000336890	NM_005356.3	77	gaC/gaT	0	not done		synonymous	
FRY		inserm.fr	GRCh37	13	32749712	32749712	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000380250.3:c.2364G>T	p.Met788Ile	p.M788I	ENST00000380250	NM_023037.2	788	atG/atT	0	not done		benign	
LCK		inserm.fr	GRCh37	1	32751125	32751125	+	synonymous_variant	Silent	SNP	C	T	T			CHC1603T																					ENST00000336890.5:c.1338C>T	p.Asn446=	p.N446=	ENST00000336890	NM_005356.3	446	aaC/aaT	0	not done		synonymous	
HLA-DOB		inserm.fr	GRCh37	6	32782137	32782137	+	synonymous_variant	Silent	SNP	G	T	T			CHC432T																					ENST00000438763.2:c.603C>A	p.Val201=	p.V201=	ENST00000438763	NM_002120.3	201	gtC/gtA	0	not done		synonymous	
NPR3		inserm.fr	GRCh37	5	32783041	32783041	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1714T																					ENST00000265074.8:c.1333C>T	p.Arg445Trp	p.R445W	ENST00000265074	NM_001204375.1	445	Cgg/Tgg	0	not done		probablydamaging	
FRY		inserm.fr	GRCh37	13	32792911	32792911	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC917T																					ENST00000380250.3:c.4708A>T	p.Thr1570Ser	p.T1570S	ENST00000380250	NM_023037.2	1570	Act/Tct	0	validated		benign	
TAP2		inserm.fr	GRCh37	6	32805975	32805975	+	synonymous_variant	Silent	SNP	C	T	T			CHC1915T																					ENST00000374899.4:c.36G>A	p.Leu12=	p.L12=	ENST00000374899	NM_018833.2	12	ctG/ctA	0	validated		synonymous	
BIRC6		inserm.fr	GRCh37	2	32836623	32836623	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2216T																					ENST00000421745.2:c.14368A>T	p.Met4790Leu	p.M4790L	ENST00000421745	NM_016252.3	4790	Atg/Ttg	0	not done		benign	
ZAR1L		inserm.fr	GRCh37	13	32885802	32885802	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1531T																					ENST00000533490.2:c.261C>A	p.Asn87Lys	p.N87K	ENST00000533490		87	aaC/aaA	0	not done		possiblydamaging	
HLA-DMB		inserm.fr	GRCh37	6	32903398	32903398	+	synonymous_variant	Silent	SNP	C	T	T			CHC2113T																					ENST00000418107.2:c.654G>A	p.Lys218=	p.K218=	ENST00000418107	NM_002118.4	218	aaG/aaA	0	validated		synonymous	
TMEM132E-DT		inserm.fr	GRCh37	17	32906093	32906093	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000357754.1:c.207G>A	p.Arg69=	p.R69=	ENST00000357754	NM_207454.2	69	agG/agA	0	not done		synonymous	
TMEM132E-DT		inserm.fr	GRCh37	17	32906262	32906262	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000357754.1:c.38G>A	p.Gly13Glu	p.G13E	ENST00000357754	NM_207454.2	13	gGg/gAg	0	not done		possiblydamaging	
BRCA2		inserm.fr	GRCh37	13	32907483	32907483	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2115T																					ENST00000380152.3:c.1868A>T	p.Asn623Ile	p.N623I	ENST00000380152		623	aAt/aTt	0	not done		possiblydamaging	
BRCA2		inserm.fr	GRCh37	13	32912815	32912815	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB109T																					ENST00000380152.3:c.4323G>T	p.Glu1441Asp	p.E1441D	ENST00000380152		1441	gaG/gaT	0	validated		benign	
ZNF24		inserm.fr	GRCh37	18	32919896	32919896	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2351T																					ENST00000261332.6:c.465G>A	p.Met155Ile	p.M155I	ENST00000261332	NM_006965.2	155	atG/atA	0	not done		benign	
TRIM71		inserm.fr	GRCh37	3	32932502	32932502	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000383763.5:c.1806C>T	p.Ser602=	p.S602=	ENST00000383763	NM_001039111.1	602	agC/agT	0	validated		synonymous	
TRIM71		inserm.fr	GRCh37	3	32933194	32933194	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000383763.5:c.2498C>T	p.Ala833Val	p.A833V	ENST00000383763	NM_001039111.1	833	gCt/gTt	0	not done		benign	
ZBTB8B		inserm.fr	GRCh37	1	32946618	32946618	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000480336.1:c.1118C>T	p.Thr373Ile	p.T373I	ENST00000480336		373	aCc/aTc	0	not done		benign	
TMEM132E		inserm.fr	GRCh37	17	32954015	32954015	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000321639.5:c.667C>T	p.Leu223Phe	p.L223F	ENST00000321639	NM_207313.1	223	Ctc/Ttc	0	not done		probablydamaging	
DPY19L3		inserm.fr	GRCh37	19	32954370	32954370	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2098T																					ENST00000342179.5:c.1421G>T	p.Gly474Val	p.G474V	ENST00000342179	NM_207325.2	474	gGa/gTa	0	not done		probablydamaging	
QSER1		inserm.fr	GRCh37	11	32956192	32956192	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1731T																					ENST00000399302.2:c.3001A>T	p.Asn1001Tyr	p.N1001Y	ENST00000399302	NM_001076786.1	1001	Aat/Tat	0	not done		benign	
TMEM132E		inserm.fr	GRCh37	17	32964895	32964895	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000321639.5:c.2599C>T	p.Pro867Ser	p.P867S	ENST00000321639	NM_207313.1	867	Ccg/Tcg	0	not done		benign	
MEFV		inserm.fr	GRCh37	16	3297091	3297091	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000219596.1:c.1512G>A	p.Gln504=	p.Q504=	ENST00000219596	NM_000243.2	504	caG/caA	0	not done		synonymous	
DPY19L3		inserm.fr	GRCh37	19	32973116	32973116	+	synonymous_variant	Silent	SNP	C	T	T			CHC2112T																					ENST00000342179.5:c.2121C>T	p.Phe707=	p.F707=	ENST00000342179	NM_207325.2	707	ttC/ttT	0	not done		synonymous	
APTX		inserm.fr	GRCh37	9	32987626	32987626	+	synonymous_variant	Silent	SNP	C	T	T			CHC1053T																					ENST00000379813.3:c.399G>A	p.Glu133=	p.E133=	ENST00000379813		133	gaG/gaA	0	validated		synonymous	
APTX		inserm.fr	GRCh37	9	32989756	32989756	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000379813.3:c.133+1G>A		p.X45_splice	ENST00000379813				0	not done		damaging	
CCR4		inserm.fr	GRCh37	3	32995047	32995047	+	synonymous_variant	Silent	SNP	C	T	T			CHC304T																					ENST00000330953.5:c.133C>T	p.Leu45=	p.L45=	ENST00000330953	NM_005508.4	45	Ctg/Ttg	0	validated		synonymous	
CCR4		inserm.fr	GRCh37	3	32995744	32995744	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000330953.5:c.830C>T	p.Thr277Ile	p.T277I	ENST00000330953	NM_005508.4	277	aCc/aTc	0	not done		benign	
OR1E1		inserm.fr	GRCh37	17	3300882	3300882	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000322608.2:c.823G>A	p.Ala275Thr	p.A275T	ENST00000322608	NM_003553.2	275	Gct/Act	0	not done		benign	
GREM1		inserm.fr	GRCh37	15	33022938	33022938	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000300177.4:c.47G>T	p.Gly16Val	p.G16V	ENST00000300177	NM_001191322.1	16	gGg/gTg	0	not done		possiblydamaging	
PKP2		inserm.fr	GRCh37	12	33031120	33031120	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000070846.6:c.694G>A	p.Asp232Asn	p.D232N	ENST00000070846	NM_004572.3	232	Gac/Aac	0	not done		probablydamaging	
HLA-DPA1		inserm.fr	GRCh37	6	33037640	33037640	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1192T																					ENST00000419277.1:c.124G>A	p.Ala42Thr	p.A42T	ENST00000419277	NM_001242524.1	42	Gcg/Acg	0	not done		benign	
GLB1		inserm.fr	GRCh37	3	33055600	33055600	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000307363.5:c.1682G>A	p.Gly561Glu	p.G561E	ENST00000307363	NM_000404.2	561	gGg/gAg	0	not done		possiblydamaging	
SCAF4		inserm.fr	GRCh37	21	33068426	33068426	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000286835.7:c.1068G>A	p.Gln356=	p.Q356=	ENST00000286835	NM_020706.2	356	caG/caA	0	not done		damaging	
TCP11L1		inserm.fr	GRCh37	11	33087377	33087377	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC301T									Valid												ENST00000334274.4:c.974C>T	p.Thr325Ile	p.T325I	ENST00000334274	NM_018393.3	325	aCa/aTa	0	validated		probablydamaging	
N4BP2L2		inserm.fr	GRCh37	13	33091985	33091985	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000399396.3:c.410+9G>A		*137*	ENST00000399396	NM_033111.4			0	not done		probablydamaging	
ANKRD27		inserm.fr	GRCh37	19	33092929	33092929	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000306065.4:c.2759G>A	p.Arg920Lys	p.R920K	ENST00000306065	NM_032139.2	920	aGg/aAg	0	not done		probablydamaging	
COL11A2		inserm.fr	GRCh37	6	33131577	33131577	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000374708.4:c.4831G>A	p.Val1611Met	p.V1611M	ENST00000374708	NM_080681.2	1611	Gtg/Atg	0	not done		probablydamaging	
COL11A2		inserm.fr	GRCh37	6	33132724	33132724	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM265T									Valid												ENST00000374708.4:c.4510C>A	p.Pro1504Thr	p.P1504T	ENST00000374708	NM_080681.2	1504	Ccc/Acc	0	validated		probablydamaging	
COL11A2		inserm.fr	GRCh37	6	33139556	33139556	+	synonymous_variant	Silent	SNP	G	T	T			CHC1594T																					ENST00000374708.4:c.2826C>A	p.Pro942=	p.P942=	ENST00000374708	NM_080681.2	942	ccC/ccA	0	not done		synonymous	
COL11A2		inserm.fr	GRCh37	6	33148471	33148471	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000374708.4:c.1000G>A	p.Gly334Ser	p.G334S	ENST00000374708	NM_080681.2	334	Ggc/Agc	0	not done		probablydamaging	
FMN1		inserm.fr	GRCh37	15	33149243	33149243	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC879T																					ENST00000334528.9:c.3232G>A	p.Asp1078Asn	p.D1078N	ENST00000334528	NM_001103184.3	1078	Gac/Aac	0	not done		probablydamaging	
COLEC12		inserm.fr	GRCh37	18	331670	331670	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	T	T			BCM711T									Valid												ENST00000400256.3:c.2061C>A	p.Tyr687Ter	p.Y687*	ENST00000400256	NM_130386.2	687	taC/taA	0	validated		damaging	
NUDT19		inserm.fr	GRCh37	19	33183139	33183139	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000397061.3:c.273G>T	p.Leu91=	p.L91=	ENST00000397061	NM_001105570.1	91	ctG/ctT	0	validated		synonymous	
NUDT19		inserm.fr	GRCh37	19	33183578	33183578	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000397061.3:c.712C>T	p.Gln238Ter	p.Q238*	ENST00000397061	NM_001105570.1	238	Cag/Tag	0	not done		damaging	
SUSD5		inserm.fr	GRCh37	3	33194580	33194580	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC097T																					ENST00000309558.3:c.1544T>A	p.Met515Lys	p.M515K	ENST00000309558	NM_015551.1	515	aTg/aAg	0	not done		benign	
SUSD5		inserm.fr	GRCh37	3	33194931	33194931	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM683T																					ENST00000309558.3:c.1193C>A	p.Ser398Ter	p.S398*	ENST00000309558	NM_015551.1	398	tCa/tAa	0	validated		damaging	
SUSD5		inserm.fr	GRCh37	3	33194986	33194986	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1736T																					ENST00000309558.3:c.1138G>A	p.Ala380Thr	p.A380T	ENST00000309558	NM_015551.1	380	Gct/Act	0	not done		probablydamaging	
AKAP6		inserm.fr	GRCh37	14	33204897	33204897	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1040T																					ENST00000280979.4:c.3181G>T	p.Ala1061Ser	p.A1061S	ENST00000280979	NM_004274.4	1061	Gca/Tca	0	not done		benign	
ITGB1		inserm.fr	GRCh37	10	33221487	33221487	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1739T																					ENST00000396033.2:c.109G>A	p.Glu37Lys	p.E37K	ENST00000396033	NM_133376.2	37	Gaa/Aaa	0	not done		benign	
TDRD12		inserm.fr	GRCh37	19	33222678	33222678	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000421545.2:c.72C>T	p.Pro24=	p.P24=	ENST00000421545	NM_001110822.1	24	ccC/ccT	0	not done		synonymous	
YARS		inserm.fr	GRCh37	1	33245765	33245765	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC433T																					ENST00000373477.4:c.1255C>A	p.Leu419Met	p.L419M	ENST00000373477	NM_003680.3	419	Ctg/Atg	0	validated		benign	
SUSD5		inserm.fr	GRCh37	3	33255487	33255487	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000309558.3:c.223C>A	p.Arg75=	p.R75=	ENST00000309558	NM_015551.1	75	Cgg/Agg	0	not done		synonymous	
PRDM16		inserm.fr	GRCh37	1	3328155	3328155	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC433T																					ENST00000270722.5:c.1394C>T	p.Pro465Leu	p.P465L	ENST00000270722		465	cCc/cTc	0	validated		possiblydamaging	
ZBTB22		inserm.fr	GRCh37	6	33283648	33283648	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000431845.2:c.1046G>A	p.Gly349Glu	p.G349E	ENST00000431845	NM_005453.4	349	gGg/gAg	0	not done		benign	
PRDM16		inserm.fr	GRCh37	1	3328403	3328403	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000270722.5:c.1642C>T	p.Pro548Ser	p.P548S	ENST00000270722		548	Ccc/Tcc	0	not done		benign	
CCT6B		inserm.fr	GRCh37	17	33288330	33288330	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000314144.5:c.83G>A	p.Arg28Gln	p.R28Q	ENST00000314144	NM_006584.3	28	cGa/cAa	0	not done		probablydamaging	
ZNF830		inserm.fr	GRCh37	17	33288787	33288787	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1754T																					ENST00000361952.3:c.202A>T	p.Thr68Ser	p.T68S	ENST00000361952	NM_052857.3	68	Act/Tct	0	not done		possiblydamaging	
AKAP6		inserm.fr	GRCh37	14	33292253	33292253	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000280979.4:c.5234C>T	p.Ala1745Val	p.A1745V	ENST00000280979	NM_004274.4	1745	gCt/gTt	0	not done		probablydamaging	
TDRD12		inserm.fr	GRCh37	19	33293912	33293912	+	synonymous_variant	Silent	SNP	C	T	T			CHC1603T																					ENST00000444215.2:c.2416C>T	p.Leu806=	p.L806=	ENST00000444215		806	Ctg/Ttg	0	not done		synonymous	
TDRD12		inserm.fr	GRCh37	19	33306479	33306479	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000444215.2:c.3267C>T	p.Arg1089=	p.R1089=	ENST00000444215		1089	cgC/cgT	0	not done		synonymous	
FUT10		inserm.fr	GRCh37	8	33310881	33310881	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000327671.5:c.229G>A	p.Glu77Lys	p.E77K	ENST00000327671	NM_032664.3	77	Gaa/Aaa	0	not done		benign	
NCOA6		inserm.fr	GRCh37	20	33328565	33328565	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC902T																					ENST00000374796.2:c.5495G>A	p.Cys1832Tyr	p.C1832Y	ENST00000374796		1832	tGt/tAt	0	not done		probablydamaging	
NCOA6		inserm.fr	GRCh37	20	33331146	33331146	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC1708T																					ENST00000374796.2:c.2915-1G>A		p.X972_splice	ENST00000374796				0	not done		possiblydamaging	
PDS5B		inserm.fr	GRCh37	13	33334808	33334808	+	synonymous_variant	Silent	SNP	C	T	T			BCM339T																					ENST00000315596.10:c.3468C>T	p.Ser1156=	p.S1156=	ENST00000315596	NM_015032.3	1156	agC/agT	0	validated		synonymous	
NCOA6		inserm.fr	GRCh37	20	33345650	33345650	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000374796.2:c.901G>A	p.Gly301Arg	p.G301R	ENST00000374796		301	Gga/Aga	0	not done		benign	
TTI2		inserm.fr	GRCh37	8	33369782	33369782	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC121T																					ENST00000431156.2:c.350G>A	p.Gly117Glu	p.G117E	ENST00000431156	NM_001102401.2	117	gGg/gAg	0	validated		probablydamaging	
HIPK3		inserm.fr	GRCh37	11	33373694	33373694	+	synonymous_variant	Silent	SNP	C	T	T			BCM339T																					ENST00000303296.4:c.3054C>T	p.Cys1018=	p.C1018=	ENST00000303296	NM_005734.4	1018	tgC/tgT	0	validated		synonymous	
HIPK3		inserm.fr	GRCh37	11	33374758	33374758	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1531T																					ENST00000303296.4:c.3292A>T	p.Asn1098Tyr	p.N1098Y	ENST00000303296	NM_005734.4	1098	Aat/Tat	0	not done		benign	
AQP7		inserm.fr	GRCh37	9	33385828	33385828	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1186T																					ENST00000297988.1:c.562G>A	p.Ala188Thr	p.A188T	ENST00000297988	NM_001170.1	188	Gcc/Acc	0	validated		benign	
ZNF263		inserm.fr	GRCh37	16	3339524	3339524	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC805T																					ENST00000219069.5:c.1018C>T	p.Arg340Trp	p.R340W	ENST00000219069	NM_005741.4	340	Cgg/Tgg	0	not done		probablydamaging	
RNF19B		inserm.fr	GRCh37	1	33402910	33402910	+	intron_variant	Intron	SNP	C	T	T			CHC2352T																					ENST00000373456.7:c.1746-50G>A		*582*	ENST00000373456	NM_153341.2			0	not done		damaging	
SYNGAP1		inserm.fr	GRCh37	6	33410687	33410687	+	synonymous_variant	Silent	SNP	C	T	T			BCM321T																					ENST00000418600.2:c.2358C>T	p.Leu786=	p.L786=	ENST00000418600	NM_006772.2	786	ctC/ctT	0	validated		synonymous	
RNF19B		inserm.fr	GRCh37	1	33412056	33412056	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC218T																					ENST00000373456.7:c.1096G>A	p.Gly366Ser	p.G366S	ENST00000373456	NM_153341.2	366	Ggc/Agc	0	validated		probablydamaging	
PRDM16		inserm.fr	GRCh37	1	3342660	3342660	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC327T																					ENST00000270722.5:c.3155C>T	p.Ala1052Val	p.A1052V	ENST00000270722		1052	gCg/gTg	0	validated		benign	
GGT7		inserm.fr	GRCh37	20	33448125	33448125	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000336431.5:c.676-1G>A		p.X226_splice	ENST00000336431	NM_178026.2			0	not done		damaging	
TARS		inserm.fr	GRCh37	5	33459949	33459949	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC734T																					ENST00000455217.2:c.1332G>T	p.Met444Ile	p.M444I	ENST00000455217	NM_001258438.1	444	atG/atT	0	not done		probablydamaging	
NLE1		inserm.fr	GRCh37	17	33466328	33466328	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC703T																					ENST00000442241.4:c.386T>A	p.Leu129Gln	p.L129Q	ENST00000442241	NM_001014445.1	129	cTg/cAg	0	validated		probablydamaging	
NRP1		inserm.fr	GRCh37	10	33475306	33475306	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM265T									Valid												ENST00000265371.4:c.2173T>A	p.Trp725Arg	p.W725R	ENST00000265371		725	Tgg/Agg	0	validated		probablydamaging	
PRDM16		inserm.fr	GRCh37	1	3348580	3348580	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC736T																					ENST00000270722.5:c.3572C>T	p.Thr1191Ile	p.T1191I	ENST00000270722		1191	aCt/aTt	0	validated		possiblydamaging	
UNC45B		inserm.fr	GRCh37	17	33486414	33486414	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000268876.5:c.829C>T	p.Gln277Ter	p.Q277*	ENST00000268876	NM_173167.2	277	Cag/Tag	0	not done		damaging	
RHPN2		inserm.fr	GRCh37	19	33487051	33487051	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1708T																					ENST00000254260.3:c.1301G>A	p.Arg434Gln	p.R434Q	ENST00000254260	NM_033103.4	434	cGg/cAg	0	not done		possiblydamaging	
COLEC12		inserm.fr	GRCh37	18	334952	334952	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000400256.3:c.1606G>A	p.Gly536Arg	p.G536R	ENST00000400256	NM_130386.2	536	Gga/Aga	0	not done		probablydamaging	
ACSS2		inserm.fr	GRCh37	20	33501563	33501563	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000253382.5:c.578G>T	p.Gly193Val	p.G193V	ENST00000253382	NM_001076552.2	193	gGc/gTc	0	not done		probablydamaging	
UNC45B		inserm.fr	GRCh37	17	33503012	33503012	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000268876.5:c.1990C>T	p.Pro664Ser	p.P664S	ENST00000268876	NM_173167.2	664	Cca/Tca	0	not done		benign	
COLEC12		inserm.fr	GRCh37	18	335223	335223	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000400256.3:c.1335G>A	p.Pro445=	p.P445=	ENST00000400256	NM_130386.2	445	ccG/ccA	0	not done		synonymous	
GSS		inserm.fr	GRCh37	20	33530347	33530347	+	synonymous_variant	Silent	SNP	G	T	T			CHC2358T																					ENST00000216951.2:c.435C>A	p.Ile145=	p.I145=	ENST00000216951	NM_000178.2	145	atC/atA	0	validated		synonymous	
ANKRD18B		inserm.fr	GRCh37	9	33548808	33548808	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC218T																					ENST00000290943.6:c.1836A>T	p.Leu612Phe	p.L612F	ENST00000290943	NM_001244752.1	612	ttA/ttT	0	validated			
ADAMTS12		inserm.fr	GRCh37	5	33549433	33549433	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000504830.1:c.4181G>A	p.Ser1394Asn	p.S1394N	ENST00000504830	NM_030955.2	1394	aGc/aAc	0	not done		benign	
KIAA1549L		inserm.fr	GRCh37	11	33565044	33565044	+	synonymous_variant	Silent	SNP	C	T	T			CHC1035T																					ENST00000321505.4:c.1044C>T	p.Ser348=	p.S348=	ENST00000321505		348	tcC/tcT	0	validated		synonymous	
KIAA1549L		inserm.fr	GRCh37	11	33565128	33565128	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000321505.4:c.1128C>T	p.Pro376=	p.P376=	ENST00000321505		376	ccC/ccT	0	not done		synonymous	
KIAA1549L		inserm.fr	GRCh37	11	33565177	33565177	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000321505.4:c.1177C>T	p.Pro393Ser	p.P393S	ENST00000321505		393	Cca/Tca	0	not done		benign	
KIAA1549L		inserm.fr	GRCh37	11	33565836	33565836	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000321505.4:c.1836C>T	p.Thr612=	p.T612=	ENST00000321505		612	acC/acT	0	not done		synonymous	
MYH7B		inserm.fr	GRCh37	20	33575068	33575068	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM739T																					ENST00000262873.7:c.1251G>T	p.Gln417His	p.Q417H	ENST00000262873	NM_020884.3	417	caG/caT	0	validated		probablydamaging	
ADAMTS12		inserm.fr	GRCh37	5	33576658	33576658	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000504830.1:c.3473G>A	p.Gly1158Asp	p.G1158D	ENST00000504830	NM_030955.2	1158	gGc/gAc	0	not done		probablydamaging	
KIAA1549L		inserm.fr	GRCh37	11	33581391	33581391	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000321505.4:c.3061C>T	p.Leu1021Phe	p.L1021F	ENST00000321505		1021	Ctc/Ttc	0	not done		probablydamaging	
KL		inserm.fr	GRCh37	13	33590926	33590926	+	synonymous_variant	Silent	SNP	G	T	T			CHC1754T																					ENST00000380099.3:c.348G>T	p.Pro116=	p.P116=	ENST00000380099	NM_004795.3	116	ccG/ccT	0	not done		synonymous	
SLFN5		inserm.fr	GRCh37	17	33591470	33591470	+	synonymous_variant	Silent	SNP	A	T	T			CHC320T																					ENST00000299977.4:c.1407A>T	p.Ile469=	p.I469=	ENST00000299977	NM_144975.3	469	atA/atT	0	validated		synonymous	
SLFN5		inserm.fr	GRCh37	17	33592715	33592715	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000299977.4:c.2484G>T	p.Gln828His	p.Q828H	ENST00000299977	NM_144975.3	828	caG/caT	0	not done		possiblydamaging	
SLFN5		inserm.fr	GRCh37	17	33592794	33592794	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC703T																					ENST00000299977.4:c.2563A>T	p.Ile855Phe	p.I855F	ENST00000299977	NM_144975.3	855	Atc/Ttc	0	validated		possiblydamaging	
GPATCH1		inserm.fr	GRCh37	19	33617546	33617546	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000170564.2:c.2672C>T	p.Pro891Leu	p.P891L	ENST00000170564	NM_018025.2	891	cCa/cTa	0	not done		benign	
KIAA1549L		inserm.fr	GRCh37	11	33628254	33628254	+	synonymous_variant	Silent	SNP	C	T	T			CHC1757T																					ENST00000321505.4:c.4056C>T	p.Pro1352=	p.P1352=	ENST00000321505		1352	ccC/ccT	0	not done		synonymous	
ITPR3		inserm.fr	GRCh37	6	33635044	33635044	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC805T																					ENST00000374316.5:c.1690C>T	p.Gln564Ter	p.Q564*	ENST00000374316		564	Cag/Tag	0	validated		damaging	
ITPR3		inserm.fr	GRCh37	6	33638168	33638168	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000374316.5:c.2256C>T	p.Ser752=	p.S752=	ENST00000374316		752	tcC/tcT	0	not done		synonymous	
ITPR3		inserm.fr	GRCh37	6	33639893	33639893	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC898T																					ENST00000374316.5:c.2816C>T	p.Pro939Leu	p.P939L	ENST00000374316		939	cCc/cTc	0	not done		benign	
ADAMTS12		inserm.fr	GRCh37	5	33658302	33658302	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2351T																					ENST00000504830.1:c.1177G>A	p.Glu393Lys	p.E393K	ENST00000504830	NM_030955.2	393	Gag/Aag	0	not done		probablydamaging	
SLFN11		inserm.fr	GRCh37	17	33680964	33680964	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM531T																					ENST00000394566.1:c.1313T>A	p.Ile438Asn	p.I438N	ENST00000394566	NM_001104587.1	438	aTt/aAt	0	validated		probablydamaging	
NPAS3		inserm.fr	GRCh37	14	33684497	33684497	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1055T									Valid												ENST00000356141.4:c.250A>T	p.Ile84Phe	p.I84F	ENST00000356141		84	Att/Ttt	0	validated		probablydamaging	
URB1		inserm.fr	GRCh37	21	33688861	33688861	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000382751.3:c.6550C>A	p.Gln2184Lys	p.Q2184K	ENST00000382751	NM_014825.2	2184	Cag/Aag	0	not done		benign	
LRP3		inserm.fr	GRCh37	19	33697551	33697551	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T									Valid												ENST00000253193.7:c.1637G>T	p.Arg546Leu	p.R546L	ENST00000253193	NM_002333.3	546	cGg/cTg	0	validated		possiblydamaging	
URB1		inserm.fr	GRCh37	21	33697575	33697575	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000382751.3:c.5085G>A	p.Ser1695=	p.S1695=	ENST00000382751	NM_014825.2	1695	tcG/tcA	0	not done		synonymous	
EDEM2		inserm.fr	GRCh37	20	33706460	33706460	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC303T									Valid												ENST00000374492.3:c.1177G>A	p.Gly393Arg	p.G393R	ENST00000374492	NM_018217.2	393	Gga/Aga	0	validated		probablydamaging	
C11orf91		inserm.fr	GRCh37	11	33721936	33721936	+	synonymous_variant	Silent	SNP	C	T	T			CHC2115T																					ENST00000379011.4:c.351G>A	p.Glu117=	p.E117=	ENST00000379011	NM_001166692.1	117	gaG/gaA	0	validated		synonymous	
LEMD2		inserm.fr	GRCh37	6	33744973	33744973	+	synonymous_variant	Silent	SNP	C	T	T			CHC1736T																					ENST00000293760.5:c.1200G>A	p.Arg400=	p.R400=	ENST00000293760	NM_181336.3	400	cgG/cgA	0	not done		synonymous	
LEMD2		inserm.fr	GRCh37	6	33756884	33756884	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000293760.5:c.10C>A	p.Leu4Met	p.L4M	ENST00000293760	NM_181336.3	4	Ctg/Atg	0	not done		possiblydamaging	
RASGRP3		inserm.fr	GRCh37	2	33764245	33764245	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1775T																					ENST00000403687.3:c.1246G>T	p.Val416Phe	p.V416F	ENST00000403687	NM_001139488.1	416	Gtc/Ttc	0	validated		benign	
SLFN13		inserm.fr	GRCh37	17	33768313	33768313	+	synonymous_variant	Silent	SNP	G	T	T			CHC1040T																					ENST00000285013.6:c.1995C>A	p.Ile665=	p.I665=	ENST00000285013	NM_144682.5	665	atC/atA	0	not done		synonymous	
MOCOS		inserm.fr	GRCh37	18	33779926	33779926	+	synonymous_variant	Silent	SNP	C	T	T			CHC889T																					ENST00000261326.5:c.580C>T	p.Leu194=	p.L194=	ENST00000261326	NM_017947.2	194	Ctg/Ttg	0	not done		synonymous	
PHC2		inserm.fr	GRCh37	1	33796985	33796985	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1209T																					ENST00000257118.5:c.1967G>A	p.Arg656His	p.R656H	ENST00000257118	NM_198040.2	656	cGt/cAt	0	not done		probablydamaging	
PHC2		inserm.fr	GRCh37	1	33797022	33797022	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1545T																					ENST00000257118.5:c.1930C>A	p.Leu644Ile	p.L644I	ENST00000257118	NM_198040.2	644	Ctc/Atc	0	validated		probablydamaging	
SLFN12L		inserm.fr	GRCh37	17	33806636	33806636	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1192T																					ENST00000260908.7:c.593T>A	p.Leu198Ter	p.L198*	ENST00000260908	NM_001195790.1	198	tTg/tAg	0	not done		damaging	
FAM83C		inserm.fr	GRCh37	20	33879736	33879736	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1148T																					ENST00000374408.3:c.372C>A	p.Asp124Glu	p.D124E	ENST00000374408	NM_178468.5	124	gaC/gaA	0	not done		benign	
FAM83C		inserm.fr	GRCh37	20	33879814	33879814	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000374408.3:c.294G>A	p.Glu98=	p.E98=	ENST00000374408	NM_178468.5	98	gaG/gaA	0	not done		synonymous	
PEPD		inserm.fr	GRCh37	19	33882272	33882272	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2321T																					ENST00000244137.7:c.1081G>A	p.Ala361Thr	p.A361T	ENST00000244137	NM_000285.3	361	Gcc/Acc	0	validated		benign	
PDCD6IP		inserm.fr	GRCh37	3	33887078	33887078	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	T	T			CHC314T									Valid												ENST00000457054.2:c.1654G>T	p.Glu552Ter	p.E552*	ENST00000457054	NM_013374.5	552	Gag/Tag	0	validated		damaging	
RYR3		inserm.fr	GRCh37	15	33926841	33926841	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1743T																					ENST00000389232.4:c.3082C>T	p.Arg1028Cys	p.R1028C	ENST00000389232	NM_001036.3	1028	Cgt/Tgt	0	not done		probablydamaging	
RYR3		inserm.fr	GRCh37	15	33936552	33936552	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000389232.4:c.3597C>T	p.Gly1199=	p.G1199=	ENST00000389232	NM_001036.3	1199	ggC/ggT	0	not done		synonymous	
RXFP3		inserm.fr	GRCh37	5	33937261	33937261	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000330120.3:c.416C>T	p.Ala139Val	p.A139V	ENST00000330120	NM_016568.3	139	gCg/gTg	0	not done		probablydamaging	
RXFP3		inserm.fr	GRCh37	5	33937737	33937737	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000330120.3:c.892C>T	p.Arg298Cys	p.R298C	ENST00000330120	NM_016568.3	298	Cgc/Tgc	0	validated		benign	
RXFP3		inserm.fr	GRCh37	5	33937803	33937803	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1028T																					ENST00000330120.3:c.958A>T	p.Arg320Ter	p.R320*	ENST00000330120	NM_016568.3	320	Aga/Tga	0	not done		damaging	
UBAP2		inserm.fr	GRCh37	9	33941736	33941736	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1629T																					ENST00000379238.1:c.1840T>A	p.Ser614Thr	p.S614T	ENST00000379238		614	Tct/Act	0	not done		benign	
SLC45A2		inserm.fr	GRCh37	5	33951699	33951699	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000296589.4:c.1116G>A	p.Trp372Ter	p.W372*	ENST00000296589	NM_016180.3	372	tgG/tgA	0	not done		damaging	
SLC45A2		inserm.fr	GRCh37	5	33951768	33951768	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000296589.4:c.1047G>A	p.Gly349=	p.G349=	ENST00000296589	NM_016180.3	349	ggG/ggA	0	not done		synonymous	
ZSCAN20		inserm.fr	GRCh37	1	33960107	33960107	+	synonymous_variant	Silent	SNP	G	T	T			CHC451T																					ENST00000361328.3:c.2163G>T	p.Arg721=	p.R721=	ENST00000361328	NM_145238.3	721	cgG/cgT	0	not done		synonymous	
UBAP2		inserm.fr	GRCh37	9	33973236	33973236	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC2115T																					ENST00000379238.1:c.521-1G>A		p.X174_splice	ENST00000379238				0	not done		damaging	
CSMD2		inserm.fr	GRCh37	1	33985187	33985187	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	T	T			CHC614T																					ENST00000241312.4:c.10395C>A	p.Asn3465Lys	p.N3465K	ENST00000241312		3465	aaC/aaA	0	validated		probablydamaging	
CSMD2		inserm.fr	GRCh37	1	33985434	33985434	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	T	T			CHC437T																					ENST00000241312.4:c.10282G>A	p.Val3428Met	p.V3428M	ENST00000241312		3428	Gtg/Atg	0	not done		probablydamaging	
CSMD2		inserm.fr	GRCh37	1	33998817	33998817	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000241312.4:c.9572G>A	p.Arg3191Lys	p.R3191K	ENST00000241312		3191	aGg/aAg	0	not done		benign	
BMPER		inserm.fr	GRCh37	7	34009963	34009963	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000297161.2:c.425G>T	p.Gly142Val	p.G142V	ENST00000297161	NM_133468.4	142	gGg/gTg	0	not done		benign	
SYNJ1		inserm.fr	GRCh37	21	34011357	34011357	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000433931.2:c.3893G>A	p.Arg1298Lys	p.R1298K	ENST00000433931	NM_003895.3	1298	aGg/aAg	0	not done		benign	
ASPA		inserm.fr	GRCh37	17	3402205	3402205	+	synonymous_variant	Silent	SNP	G	T	T			CHC326T																					ENST00000263080.2:c.765G>T	p.Leu255=	p.L255=	ENST00000263080	NM_000049.2	255	ctG/ctT	0	validated		synonymous	
GDF5		inserm.fr	GRCh37	20	34025505	34025505	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000374372.1:c.204G>A	p.Gly68=	p.G68=	ENST00000374372		68	ggG/ggA	0	not done		synonymous	
NPAS3		inserm.fr	GRCh37	14	34029396	34029396	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1201T																					ENST00000356141.4:c.538A>T	p.Ile180Phe	p.I180F	ENST00000356141		180	Atc/Ttc	0	not done		probablydamaging	
SYNJ1		inserm.fr	GRCh37	21	34038438	34038438	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000433931.2:c.2077G>A	p.Ala693Thr	p.A693T	ENST00000433931	NM_003895.3	693	Gca/Aca	0	not done		probablydamaging	
CEP250		inserm.fr	GRCh37	20	34060594	34060594	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1775T																					ENST00000397527.1:c.1147G>T	p.Asp383Tyr	p.D383Y	ENST00000397527	NM_007186.3	383	Gat/Tat	0	validated		possiblydamaging	
GAS2L2		inserm.fr	GRCh37	17	34074089	34074089	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC889T																					ENST00000254466.6:c.1031G>A	p.Arg344His	p.R344H	ENST00000254466	NM_139285.3	344	cGc/cAc	0	validated		benign	
CSMD2		inserm.fr	GRCh37	1	34080109	34080109	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000241312.4:c.6008G>A	p.Gly2003Asp	p.G2003D	ENST00000241312		2003	gGc/gAc	0	not done		probablydamaging	
CSMD2		inserm.fr	GRCh37	1	34090149	34090149	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	T	T			BCM265T																					ENST00000241312.4:c.5475G>A	p.Lys1825=	p.K1825=	ENST00000241312		1825	aaG/aaA	0	validated		synonymous	
CEP250		inserm.fr	GRCh37	20	34091053	34091053	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000397527.1:c.4856C>T	p.Thr1619Ile	p.T1619I	ENST00000397527	NM_007186.3	1619	aCc/aTc	0	not done		possiblydamaging	
CSMD2		inserm.fr	GRCh37	1	34092179	34092179	+	missense_variant,splice_region_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	T	T			CHC2200T																					ENST00000241312.4:c.5083G>A	p.Glu1695Lys	p.E1695K	ENST00000241312		1695	Gaa/Aaa	0	not done		probablydamaging	
MMP28		inserm.fr	GRCh37	17	34097241	34097241	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	C	T	T			CHC892T																					ENST00000587639.1:c.*16G>A		*6*	ENST00000587639				0	not done		possiblydamaging	
DCAF12		inserm.fr	GRCh37	9	34107483	34107483	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000361264.4:c.414G>A	p.Gln138=	p.Q138=	ENST00000361264	NM_015397.3	138	caG/caA	0	not done		synonymous	
GRM4		inserm.fr	GRCh37	6	34122855	34122855	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000374177.3:c.312+1G>A		p.X104_splice	ENST00000374177	NM_001256809.1			0	not done		damaging	
DCAF12		inserm.fr	GRCh37	9	34126363	34126363	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC433T																					ENST00000361264.4:c.67C>A	p.Gln23Lys	p.Q23K	ENST00000361264	NM_015397.3	23	Cag/Aag	0	validated		benign	
CSMD2		inserm.fr	GRCh37	1	34128652	34128652	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	T	T			CHC451T																					ENST00000241312.4:c.3973G>A	p.Val1325Met	p.V1325M	ENST00000241312		1325	Gtg/Atg	0	validated		probablydamaging	
RYR3		inserm.fr	GRCh37	15	34130137	34130137	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000389232.4:c.11956C>T	p.Pro3986Ser	p.P3986S	ENST00000389232	NM_001036.3	3986	Cca/Tca	0	not done		probablydamaging	
RYR3		inserm.fr	GRCh37	15	34147037	34147037	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000389232.4:c.13931C>T	p.Ala4644Val	p.A4644V	ENST00000389232	NM_001036.3	4644	gCt/gTt	0	not done		probablydamaging	
TAF15		inserm.fr	GRCh37	17	34169424	34169424	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM783T																					ENST00000588240.1:c.967G>T	p.Glu323Ter	p.E323*	ENST00000588240	NM_139215.2	323	Gaa/Taa	0	validated		damaging	
TAF15		inserm.fr	GRCh37	17	34171817	34171817	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2099T																					ENST00000588240.1:c.1514G>T	p.Arg505Leu	p.R505L	ENST00000588240	NM_139215.2	505	cGa/cTa	0	validated		benign	
MEGF6		inserm.fr	GRCh37	1	3417308	3417308	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1738T																					ENST00000356575.4:c.2596G>A	p.Gly866Arg	p.G866R	ENST00000356575	NM_001409.3	866	Gga/Aga	0	not done		probablydamaging	
MEGF6		inserm.fr	GRCh37	1	3417655	3417655	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1154T																					ENST00000356575.4:c.2450G>A	p.Cys817Tyr	p.C817Y	ENST00000356575	NM_001409.3	817	tGc/tAc	0	not done		probablydamaging	
CSMD2		inserm.fr	GRCh37	1	34180250	34180250	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	T	T			CHC2216T																					ENST00000241312.4:c.3223G>A	p.Ala1075Thr	p.A1075T	ENST00000241312		1075	Gcc/Acc	0	not done		benign	
CHST8		inserm.fr	GRCh37	19	34180273	34180273	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000262622.4:c.106G>T	p.Glu36Ter	p.E36*	ENST00000262622	NM_022467.3	36	Gag/Tag	0	not done		damaging	
MEGF6		inserm.fr	GRCh37	1	3418431	3418431	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000356575.4:c.2243G>A	p.Gly748Glu	p.G748E	ENST00000356575	NM_001409.3	748	gGg/gAg	0	not done		possiblydamaging	
FHOD3		inserm.fr	GRCh37	18	34192058	34192058	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1055T									Valid												ENST00000257209.4:c.957G>T	p.Glu319Asp	p.E319D	ENST00000257209	NM_025135.2	319	gaG/gaT	0	validated		probablydamaging	
BMPER		inserm.fr	GRCh37	7	34192732	34192732	+	synonymous_variant	Silent	SNP	C	T	T			BCM567T																					ENST00000297161.2:c.1905C>T	p.Tyr635=	p.Y635=	ENST00000297161	NM_133468.4	635	taC/taT	0	validated		synonymous	
CSMD2		inserm.fr	GRCh37	1	34204884	34204884	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000241312.4:c.2105G>A	p.Arg702Gln	p.R702Q	ENST00000241312		702	cGg/cAg	0	not done		probablydamaging	
CCL5		inserm.fr	GRCh37	17	34205579	34205579	+	synonymous_variant	Silent	SNP	G	T	T			CHC434T																					ENST00000293272.3:c.141C>A	p.Ile47=	p.I47=	ENST00000293272	NM_002985.2	47	atC/atA	0	validated		synonymous	
CCL5		inserm.fr	GRCh37	17	34205602	34205602	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1148T																					ENST00000293272.3:c.118C>A	p.Arg40Ser	p.R40S	ENST00000293272	NM_002985.2	40	Cgc/Agc	0	validated		benign	
CPNE1		inserm.fr	GRCh37	20	34219609	34219609	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000317677.5:c.642+1G>A		p.X214_splice	ENST00000317677	NM_003915.5			0	not done		damaging	
KIF24		inserm.fr	GRCh37	9	34255979	34255979	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000379166.2:c.3626G>A	p.Arg1209Gln	p.R1209Q	ENST00000379166	NM_194313.2	1209	cGa/cAa	0	validated		benign	
CTD-2144E22.5		inserm.fr	GRCh37	16	34256890	34256890	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC703T																					ENST00000319817.2:c.134G>T	p.Cys45Phe	p.C45F	ENST00000319817		45	tGc/tTc	0	validated			
MGC34800		inserm.fr	GRCh37	16	34257144	34257144	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC923T																					ENST00000319817.2:c.388G>T	p.Ala130Ser	p.A130S	ENST00000319817		130	Gcc/Tcc	0	not done			
NPAS3		inserm.fr	GRCh37	14	34263140	34263140	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000356141.4:c.1191C>T	p.Arg397=	p.R397=	ENST00000356141		397	cgC/cgT	0	not done		synonymous	
CHST8		inserm.fr	GRCh37	19	34263921	34263921	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1065T									Valid												ENST00000262622.4:c.1228G>T	p.Asp410Tyr	p.D410Y	ENST00000262622	NM_022467.3	410	Gat/Tat	0	validated		probablydamaging	
NPAS3		inserm.fr	GRCh37	14	34270284	34270284	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000356141.4:c.2771C>T	p.Ala924Val	p.A924V	ENST00000356141		924	gCg/gTg	0	not done		benign	
FHOD3		inserm.fr	GRCh37	18	34273292	34273292	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000257209.4:c.1617C>T	p.Cys539=	p.C539=	ENST00000257209	NM_025135.2	539	tgC/tgT	0	not done		synonymous	
NFS1		inserm.fr	GRCh37	20	34286460	34286460	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000374092.4:c.150G>A	p.Pro50=	p.P50=	ENST00000374092	NM_021100.4	50	ccG/ccA	0	not done		synonymous	
FHOD3		inserm.fr	GRCh37	18	34298297	34298297	+	synonymous_variant	Silent	SNP	C	T	T			CHC1183T																					ENST00000257209.4:c.2511C>T	p.Asp837=	p.D837=	ENST00000257209	NM_025135.2	837	gaC/gaT	0	not done		synonymous	
KCTD15		inserm.fr	GRCh37	19	34302209	34302209	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000430256.3:c.445G>T	p.Glu149Ter	p.E149*	ENST00000430256		149	Gag/Tag	0	not done		damaging	
ZSCAN32		inserm.fr	GRCh37	16	3433500	3433500	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1205T																					ENST00000304926.3:c.810G>A	p.Met270Ile	p.M270I	ENST00000304926	NM_017810.2	270	atG/atA	0	not done		benign	
CCL23		inserm.fr	GRCh37	17	34344913	34344913	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC121T									Valid												ENST00000293280.2:c.22C>A	p.Leu8Ile	p.L8I	ENST00000293280	NM_005064.4	8	Ctc/Atc	0	validated		possiblydamaging	
CHRM5		inserm.fr	GRCh37	15	34354979	34354979	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000383263.5:c.61C>T	p.Pro21Ser	p.P21S	ENST00000383263	NM_012125.3	21	Cct/Tct	0	not done		benign	
EGLN3		inserm.fr	GRCh37	14	34400373	34400373	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1185T																					ENST00000250457.3:c.406G>A	p.Val136Met	p.V136M	ENST00000250457	NM_022073.3	136	Gtg/Atg	0	not done		probablydamaging	
PHF20		inserm.fr	GRCh37	20	34451074	34451074	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC059T																					ENST00000374012.3:c.560C>T	p.Thr187Ile	p.T187I	ENST00000374012		187	aCa/aTa	0	validated		probablydamaging	
PHF20		inserm.fr	GRCh37	20	34487475	34487475	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000374012.3:c.1466C>T	p.Pro489Leu	p.P489L	ENST00000374012		489	cCg/cTg	0	validated		probablydamaging	
DNAI1		inserm.fr	GRCh37	9	34489431	34489431	+	synonymous_variant	Silent	SNP	C	T	T			BCM783T																					ENST00000242317.4:c.372C>T	p.Arg124=	p.R124=	ENST00000242317	NM_012144.3	124	cgC/cgT	0	validated		synonymous	
NFIC		inserm.fr	GRCh37	19	3452573	3452573	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2215T																					ENST00000443272.2:c.1178C>T	p.Ala393Val	p.A393V	ENST00000443272	NM_001245002.1	393	gCc/gTc	0	not done		probablydamaging	
CNBD2		inserm.fr	GRCh37	20	34618507	34618507	+	synonymous_variant	Silent	SNP	C	T	T			CHC1192T																					ENST00000349339.1:c.1656C>T	p.Pro552=	p.P552=	ENST00000349339	NM_080834.2	552	ccC/ccT	0	not done		synonymous	
GALT		inserm.fr	GRCh37	9	34647865	34647865	+	synonymous_variant	Silent	SNP	G	T	T			BCM567T																					ENST00000378842.3:c.414G>T	p.Thr138=	p.T138=	ENST00000378842	NM_000155.3	138	acG/acT	0	validated		synonymous	
GALT		inserm.fr	GRCh37	9	34649012	34649012	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1774T																					ENST00000378842.3:c.838A>T	p.Lys280Ter	p.K280*	ENST00000378842	NM_000155.3	280	Aag/Tag	0	validated		damaging	
NUTM1		inserm.fr	GRCh37	15	34649083	34649083	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000333756.4:c.2790C>T	p.Pro930=	p.P930=	ENST00000333756	NM_175741.1	930	ccC/ccT	0	not done		synonymous	
COLEC12		inserm.fr	GRCh37	18	346950	346950	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000400256.3:c.672G>A	p.Gln224=	p.Q224=	ENST00000400256	NM_130386.2	224	caG/caA	0	not done		synonymous	
COLEC12		inserm.fr	GRCh37	18	347152	347152	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1604T																					ENST00000400256.3:c.470T>A	p.Leu157Ter	p.L157*	ENST00000400256	NM_130386.2	157	tTg/tAg	0	not done		damaging	
AXIN1		inserm.fr	GRCh37	16	347168	347168	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1545T									Valid												ENST00000262320.3:c.1843G>A	p.Ala615Thr	p.A615T	ENST00000262320	NM_003502.3	615	Gcc/Acc	0	not done		benign	
FAM205A		inserm.fr	GRCh37	9	34724232	34724232	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1566T																					ENST00000378788.3:c.3005T>A	p.Met1002Lys	p.M1002K	ENST00000378788	NM_001141917.1	1002	aTg/aAg	0	not done		possiblydamaging	
AXIN1		inserm.fr	GRCh37	16	347772	347772	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC434T									Valid												ENST00000262320.3:c.1734C>A	p.Tyr578Ter	p.Y578*	ENST00000262320	NM_003502.3	578	taC/taA	0	validated		damaging	
EPB41L1		inserm.fr	GRCh37	20	34778279	34778279	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1736T																					ENST00000338074.2:c.1107G>T	p.Glu369Asp	p.E369D	ENST00000338074	NM_012156.2	369	gaG/gaT	0	not done		probablydamaging	
AXIN1		inserm.fr	GRCh37	16	347841	347841	+	synonymous_variant	Silent	SNP	G	T	T			CHC1052T																					ENST00000262320.3:c.1665C>A	p.Thr555=	p.T555=	ENST00000262320	NM_003502.3	555	acC/acA	0	validated		synonymous	
AXIN1		inserm.fr	GRCh37	16	348223	348223	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC736T									Valid												ENST00000262320.3:c.1283C>A	p.Ser428Ter	p.S428*	ENST00000262320	NM_003502.3	428	tCg/tAg	0	no detection		damaging	
BLTP3A		inserm.fr	GRCh37	6	34839676	34839676	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC205T																					ENST00000192788.5:c.4171C>T	p.Pro1391Ser	p.P1391S	ENST00000192788	NM_017754.3	1391	Ccc/Tcc	0	validated		benign	
ZNF597		inserm.fr	GRCh37	16	3487011	3487011	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2358T																					ENST00000301744.4:c.688C>A	p.His230Asn	p.H230N	ENST00000301744	NM_152457.1	230	Cac/Aac	0	validated		probablydamaging	
GART		inserm.fr	GRCh37	21	34889447	34889447	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC1545T																					ENST00000381831.3:c.1956G>A	p.Gly652=	p.G652=	ENST00000381831	NM_001136005.1	652	ggG/ggA	0	not done		damaging	
PDCD2L		inserm.fr	GRCh37	19	34895639	34895639	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000246535.3:c.194C>T	p.Pro65Leu	p.P65L	ENST00000246535	NM_032346.1	65	cCg/cTg	0	validated		probablydamaging	
PDCD2L		inserm.fr	GRCh37	19	34895717	34895717	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM545T																					ENST00000246535.3:c.272G>T	p.Arg91Leu	p.R91L	ENST00000246535	NM_032346.1	91	cGc/cTc	0	validated		probablydamaging	
CELF4		inserm.fr	GRCh37	18	34901836	34901836	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000420428.2:c.378G>A	p.Arg126=	p.R126=	ENST00000420428	NM_020180.3	126	cgG/cgA	0	not done		synonymous	
DOHH		inserm.fr	GRCh37	19	3491630	3491630	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM489T																					ENST00000427575.1:c.769G>A	p.Ala257Thr	p.A257T	ENST00000427575	NM_001145165.1	257	Gcg/Acg	0	validated		benign	
ANKS1A		inserm.fr	GRCh37	6	34949748	34949748	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC891T																					ENST00000360359.3:c.717G>T	p.Met239Ile	p.M239I	ENST00000360359	NM_015245.2	239	atG/atT	0	not done		possiblydamaging	
DNAJC21		inserm.fr	GRCh37	5	34950439	34950439	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC912T																					ENST00000382021.2:c.1485A>T	p.Glu495Asp	p.E495D	ENST00000382021	NM_194283.3	495	gaA/gaT	0	validated		benign	
CRYZL1		inserm.fr	GRCh37	21	34962217	34962217	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC121T																					ENST00000381554.3:c.961G>A	p.Asp321Asn	p.D321N	ENST00000381554	NM_145858.2	321	Gat/Aat	0	validated		benign	
WTIP		inserm.fr	GRCh37	19	34972383	34972383	+	upstream_gene_variant	5'Flank	SNP	C	T	T			CHC1708T																								ENST00000590071	NM_001080436.1			0	validated		synonymous	
WTIP		inserm.fr	GRCh37	19	34973183	34973183	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC510T																					ENST00000590071.2:c.304G>T	p.Gly102Cys	p.G102C	ENST00000590071	NM_001080436.1	102	Ggc/Tgc	0	validated		benign	
CRYZL1		inserm.fr	GRCh37	21	34975819	34975819	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC805T																					ENST00000381554.3:c.356G>A	p.Trp119Ter	p.W119*	ENST00000381554	NM_145858.2	119	tGg/tAg	0	not done		damaging	
GJD2		inserm.fr	GRCh37	15	35046684	35046684	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000290374.4:c.6G>A	p.Gly2=	p.G2=	ENST00000290374	NM_020660.2	2	ggG/ggA	0	not done		synonymous	
DLGAP4		inserm.fr	GRCh37	20	35060771	35060771	+	synonymous_variant	Silent	SNP	C	T	T			CHC1207T																					ENST00000373913.3:c.651C>T	p.Ala217=	p.A217=	ENST00000373913		217	gcC/gcT	0	not done		synonymous	
VCP		inserm.fr	GRCh37	9	35066709	35066709	+	synonymous_variant	Silent	SNP	C	T	T			CHC1556T																					ENST00000358901.6:c.408G>A	p.Lys136=	p.K136=	ENST00000358901	NM_007126.3	136	aaG/aaA	0	not done		synonymous	
SNX6		inserm.fr	GRCh37	14	35066755	35066755	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000362031.4:c.648+1G>A		p.X216_splice	ENST00000362031	NM_152233.2			0	not done		damaging	
PIGO		inserm.fr	GRCh37	9	35092686	35092686	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2099T																					ENST00000378617.3:c.1198T>A	p.Phe400Ile	p.F400I	ENST00000378617	NM_032634.3	400	Ttc/Atc	0	not done		possiblydamaging	
ATOSB		inserm.fr	GRCh37	9	35108028	35108028	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000378561.1:c.244G>A	p.Gly82Ser	p.G82S	ENST00000378561		82	Ggc/Agc	0	not done		possiblydamaging	
CELF4		inserm.fr	GRCh37	18	35145565	35145565	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1592T																					ENST00000420428.2:c.40G>A	p.Asp14Asn	p.D14N	ENST00000420428	NM_020180.3	14	Gac/Aac	0	not done		possiblydamaging	
ITSN1		inserm.fr	GRCh37	21	35147404	35147404	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCM617T																					ENST00000381318.3:c.1588C>T	p.Gln530Ter	p.Q530*	ENST00000381318	NM_003024.2	530	Caa/Taa	0	validated		damaging	
TGIF2		inserm.fr	GRCh37	20	35219529	35219529	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1712T																					ENST00000373874.2:c.409G>T	p.Gly137Cys	p.G137C	ENST00000373874	NM_001199514.1	137	Ggc/Tgc	0	not done		benign	
ITSN1		inserm.fr	GRCh37	21	35237469	35237469	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1594T																					ENST00000381318.3:c.3905G>T	p.Arg1302Leu	p.R1302L	ENST00000381318	NM_003024.2	1302	cGc/cTc	0	not done		probablydamaging	
GJB3		inserm.fr	GRCh37	1	35250702	35250702	+	synonymous_variant	Silent	SNP	C	T	T			CHC1079T																					ENST00000373366.2:c.339C>T	p.Cys113=	p.C113=	ENST00000373366	NM_024009.2	113	tgC/tgT	0	not done		synonymous	
ZNF76		inserm.fr	GRCh37	6	35259465	35259465	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000373953.3:c.882C>T	p.Arg294=	p.R294=	ENST00000373953	NM_003427.3	294	cgC/cgT	0	validated		synonymous	
GJA4		inserm.fr	GRCh37	1	35260324	35260324	+	synonymous_variant	Silent	SNP	C	T	T			CHC302T																					ENST00000342280.4:c.510C>T	p.Leu170=	p.L170=	ENST00000342280	NM_002060.2	170	ctC/ctT	0	validated		synonymous	
GJA4		inserm.fr	GRCh37	1	35260601	35260601	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM783T																					ENST00000342280.4:c.787G>T	p.Val263Phe	p.V263F	ENST00000342280	NM_002060.2	263	Gtc/Ttc	0	validated		benign	
ZNF76		inserm.fr	GRCh37	6	35260814	35260814	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000373953.3:c.1322C>T	p.Ala441Val	p.A441V	ENST00000373953	NM_003427.3	441	gCc/gTc	0	not done		benign	
FZR1		inserm.fr	GRCh37	19	3526997	3526997	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000395095.3:c.407G>T	p.Arg136Leu	p.R136L	ENST00000395095	NM_001136198.1	136	cGc/cTc	0	not done		benign	
DLGAP3		inserm.fr	GRCh37	1	35334233	35334233	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1775T																					ENST00000373347.1:c.2458G>A	p.Ala820Thr	p.A820T	ENST00000373347		820	Gcg/Acg	0	validated		probablydamaging	
DLGAP3		inserm.fr	GRCh37	1	35334527	35334527	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC889T																					ENST00000373347.1:c.2164G>A	p.Ala722Thr	p.A722T	ENST00000373347		722	Gcc/Acc	0	not done		benign	
DLGAP3		inserm.fr	GRCh37	1	35334572	35334572	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1624T																					ENST00000373347.1:c.2119C>A	p.Arg707Ser	p.R707S	ENST00000373347		707	Cgc/Agc	0	validated		probablydamaging	
UNC13B		inserm.fr	GRCh37	9	35378318	35378318	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1052T									Valid												ENST00000378495.3:c.1843A>T	p.Lys615Ter	p.K615*	ENST00000378495	NM_006377.3	615	Aag/Tag	0	validated		damaging	
UNC13B		inserm.fr	GRCh37	9	35398240	35398240	+	synonymous_variant	Silent	SNP	G	T	T			BCM275T																					ENST00000378495.3:c.3540G>T	p.Leu1180=	p.L1180=	ENST00000378495	NM_006377.3	1180	ctG/ctT	0	validated		synonymous	
SOGA1		inserm.fr	GRCh37	20	35422447	35422447	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000237536.4:c.4038G>A	p.Lys1346=	p.K1346=	ENST00000237536	NM_080627.2	1346	aaG/aaA	0	not done		synonymous	
AXIN1		inserm.fr	GRCh37	16	354303	354303	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T									Valid												ENST00000262320.3:c.1254+1G>A		p.X418_splice	ENST00000262320	NM_003502.3			0	validated		damaging	
ZNF30		inserm.fr	GRCh37	19	35434734	35434734	+	synonymous_variant	Silent	SNP	C	T	T			BCM735T																					ENST00000439785.1:c.867C>T	p.Tyr289=	p.Y289=	ENST00000439785	NM_001099438.1	289	taC/taT	0	validated		synonymous	
SOGA1		inserm.fr	GRCh37	20	35437072	35437072	+	synonymous_variant	Silent	SNP	C	T	T			CHC2127T																					ENST00000237536.4:c.2658G>A	p.Leu886=	p.L886=	ENST00000237536	NM_080627.2	886	ctG/ctA	0	not done		synonymous	
SOGA1		inserm.fr	GRCh37	20	35444039	35444039	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000237536.4:c.1806G>A	p.Gln602=	p.Q602=	ENST00000237536	NM_080627.2	602	caG/caA	0	not done		synonymous	
ZNF792		inserm.fr	GRCh37	19	35449591	35449591	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000404801.1:c.1168G>A	p.Gly390Ser	p.G390S	ENST00000404801	NM_175872.4	390	Ggc/Agc	0	not done		probablydamaging	
ZNF792		inserm.fr	GRCh37	19	35449987	35449987	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC433T																					ENST00000404801.1:c.772G>A	p.Glu258Lys	p.E258K	ENST00000404801	NM_175872.4	258	Gaa/Aaa	0	validated		probablydamaging	
PAMR1		inserm.fr	GRCh37	11	35456336	35456336	+	synonymous_variant	Silent	SNP	C	T	T			BCM265T																					ENST00000278360.3:c.1401G>A	p.Glu467=	p.E467=	ENST00000278360	NM_015430.2	467	gaG/gaA	0	validated		synonymous	
PAMR1		inserm.fr	GRCh37	11	35492286	35492286	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000278360.3:c.575G>A	p.Gly192Asp	p.G192D	ENST00000278360	NM_015430.2	192	gGc/gAc	0	not done		benign	
CREM		inserm.fr	GRCh37	10	35500614	35500614	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM791T																					ENST00000345491.3:c.786G>T	p.Lys262Asn	p.K262N	ENST00000345491	NM_181571.2	262	aaG/aaT	0	validated		probablydamaging	
C20orf118		inserm.fr	GRCh37	20	35507476	35507476	+	synonymous_variant	Silent	SNP	C	T	T			CHC2208T																					ENST00000217320.3:c.222C>T	p.Gly74=	p.G74=	ENST00000217320	NM_080628.1	74	ggC/ggT	0	not done		synonymous	
PAMR1		inserm.fr	GRCh37	11	35515678	35515678	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000278360.3:c.216G>A	p.Glu72=	p.E72=	ENST00000278360	NM_015430.2	72	gaG/gaA	0	not done		synonymous	
NBEA		inserm.fr	GRCh37	13	35516996	35516996	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1720T																					ENST00000400445.3:c.39G>T	p.Glu13Asp	p.E13D	ENST00000400445	NM_015678.4	13	gaG/gaT	0	not done		benign	
ZMYM1		inserm.fr	GRCh37	1	35577433	35577433	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000373330.1:c.1022C>T	p.Thr341Met	p.T341M	ENST00000373330		341	aCg/aTg	0	validated		benign	
ACACA		inserm.fr	GRCh37	17	35580514	35580514	+	synonymous_variant	Silent	SNP	G	T	T			BCM489T																					ENST00000353139.5:c.3483C>A	p.Ile1161=	p.I1161=	ENST00000353139	NM_198834.1	1161	atC/atA	0	validated		synonymous	
UNC5D		inserm.fr	GRCh37	8	35584046	35584046	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	T	T			CHC1594T																					ENST00000404895.2:c.1680A>T	p.Thr560=	p.T560=	ENST00000404895	NM_080872.2	560	acA/acT	0	not done		damaging	
ACACA		inserm.fr	GRCh37	17	35614789	35614789	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			BCM257T																					ENST00000353139.5:c.1663-1G>A		p.X555_splice	ENST00000353139	NM_198834.1			0	validated		damaging	
FJX1		inserm.fr	GRCh37	11	35640436	35640436	+	synonymous_variant	Silent	SNP	C	T	T			BCM689T																					ENST00000317811.4:c.252C>T	p.Leu84=	p.L84=	ENST00000317811	NM_014344.3	84	ctC/ctT	0	validated		synonymous	
SIT1		inserm.fr	GRCh37	9	35650780	35650780	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000259608.3:c.71G>A	p.Gly24Asp	p.G24D	ENST00000259608	NM_014450.2	24	gGc/gAc	0	not done		benign	
CSMD1		inserm.fr	GRCh37	8	3566006	3566006	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000537824.1:c.939G>A	p.Lys313=	p.K313=	ENST00000537824	NM_033225.5	313	aaG/aaA	0	not done		synonymous	
HMGXB4		inserm.fr	GRCh37	22	35661527	35661527	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000216106.5:c.1146C>T	p.His382=	p.H382=	ENST00000216106	NM_001003681.2	382	caC/caT	0	validated		synonymous	
CA9		inserm.fr	GRCh37	9	35677796	35677796	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1598T																					ENST00000378357.4:c.850G>T	p.Glu284Ter	p.E284*	ENST00000378357	NM_001216.2	284	Gaa/Taa	0	not done		damaging	
CA9		inserm.fr	GRCh37	9	35679263	35679263	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1747T																					ENST00000378357.4:c.989C>T	p.Ser330Phe	p.S330F	ENST00000378357	NM_001216.2	330	tCt/tTt	0	not done		probablydamaging	
ACACA		inserm.fr	GRCh37	17	35687112	35687112	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC1745T																					ENST00000353139.5:c.338+1G>A		p.X113_splice	ENST00000353139	NM_198834.1			0	not done		damaging	
TPM2		inserm.fr	GRCh37	9	35689266	35689266	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000378292.3:c.117G>A	p.Leu39=	p.L39=	ENST00000378292	NM_213674.1	39	ctG/ctA	0	not done		synonymous	
TLN1		inserm.fr	GRCh37	9	35698432	35698432	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000314888.9:c.7259G>A	p.Ser2420Asn	p.S2420N	ENST00000314888	NM_006289.3	2420	aGc/aAc	0	not done		possiblydamaging	
TLN1		inserm.fr	GRCh37	9	35714633	35714633	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000314888.9:c.2923G>A	p.Ala975Thr	p.A975T	ENST00000314888	NM_006289.3	975	Gcc/Acc	0	not done		benign	
FAM187B		inserm.fr	GRCh37	19	35715763	35715763	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000324675.3:c.1075G>A	p.Gly359Ser	p.G359S	ENST00000324675	NM_152481.1	359	Ggc/Agc	0	not done		benign	
NBEA		inserm.fr	GRCh37	13	35735947	35735947	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000400445.3:c.3922C>T	p.Arg1308Ter	p.R1308*	ENST00000400445	NM_015678.4	1308	Cga/Tga	0	not done		damaging	
LSR		inserm.fr	GRCh37	19	35739854	35739854	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2115T																					ENST00000361790.3:c.73C>T	p.Pro25Ser	p.P25S	ENST00000361790	NM_205834.3	25	Cct/Tct	0	not done		probablydamaging	
SPEF2		inserm.fr	GRCh37	5	35753738	35753738	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000356031.3:c.3343C>T	p.Arg1115Cys	p.R1115C	ENST00000356031	NM_024867.3	1115	Cgc/Tgc	0	not done		probablydamaging	
LSR		inserm.fr	GRCh37	19	35758496	35758496	+	synonymous_variant	Silent	SNP	G	T	T			CHC307T																					ENST00000361790.3:c.1773G>T	p.Leu591=	p.L591=	ENST00000361790	NM_205834.3	591	ctG/ctT	0	validated		synonymous	
HMOX1		inserm.fr	GRCh37	22	35782958	35782958	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2215T																					ENST00000216117.8:c.425C>T	p.Ser142Phe	p.S142F	ENST00000216117	NM_002133.2	142	tCt/tTt	0	not done		probablydamaging	
MAG		inserm.fr	GRCh37	19	35786659	35786659	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000392213.3:c.190C>T	p.Pro64Ser	p.P64S	ENST00000392213	NM_002361.3	64	Ccc/Tcc	0	not done		probablydamaging	
NBEA		inserm.fr	GRCh37	13	35806727	35806727	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2200T																					ENST00000400445.3:c.5747G>T	p.Gly1916Val	p.G1916V	ENST00000400445	NM_015678.4	1916	gGc/gTc	0	not done		probablydamaging	
HINT2		inserm.fr	GRCh37	9	35814905	35814905	+	synonymous_variant	Silent	SNP	G	T	T			CHC2211T																					ENST00000259667.5:c.72C>A	p.Arg24=	p.R24=	ENST00000259667	NM_032593.2	24	cgC/cgA	0	validated		synonymous	
DLGAP1		inserm.fr	GRCh37	18	3581981	3581981	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000315677.3:c.1857C>A	p.Gly619=	p.G619=	ENST00000315677	NM_004746.3	619	ggC/ggA	0	validated		synonymous	
MAGEB16		inserm.fr	GRCh37	X	35820534	35820534	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000399989.1:c.221C>T	p.Ala74Val	p.A74V	ENST00000399989	NM_001099921.1	74	gCc/gTc	0	not done		benign	
MAGEB16		inserm.fr	GRCh37	X	35820535	35820535	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000399989.1:c.222C>T	p.Ala74=	p.A74=	ENST00000399989	NM_001099921.1	74	gcC/gcT	0	not done		synonymous	
CD22		inserm.fr	GRCh37	19	35827141	35827141	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1082T																					ENST00000085219.5:c.615G>T	p.Lys205Asn	p.K205N	ENST00000085219	NM_001771.3	205	aaG/aaT	0	validated		possiblydamaging	
TADA2A		inserm.fr	GRCh37	17	35827612	35827612	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000394395.2:c.878G>T	p.Gly293Val	p.G293V	ENST00000394395	NM_001166105.1	293	gGc/gTc	0	not done		probablydamaging	
CD22		inserm.fr	GRCh37	19	35831909	35831909	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC891T																					ENST00000085219.5:c.1375C>T	p.His459Tyr	p.H459Y	ENST00000085219	NM_001771.3	459	Cat/Tat	0	not done		benign	
IL7R		inserm.fr	GRCh37	5	35871170	35871170	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1629T																					ENST00000303115.3:c.392C>T	p.Ala131Val	p.A131V	ENST00000303115	NM_002185.3	131	gCt/gTt	0	not done		possiblydamaging	
GHRH		inserm.fr	GRCh37	20	35884893	35884893	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM683T																					ENST00000373614.2:c.92G>A	p.Arg31Gln	p.R31Q	ENST00000373614		31	cGg/cAg	0	validated		probablydamaging	
SYNRG		inserm.fr	GRCh37	17	35896192	35896192	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000339208.6:c.3555G>A	p.Glu1185=	p.E1185=	ENST00000339208	NM_001163544.1	1185	gaG/gaA	0	not done		synonymous	
GJD4		inserm.fr	GRCh37	10	35897438	35897438	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1545T																					ENST00000321660.1:c.997G>T	p.Ala333Ser	p.A333S	ENST00000321660	NM_153368.2	333	Gca/Tca	0	validated		possiblydamaging	
SYNRG		inserm.fr	GRCh37	17	35930794	35930794	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC437T																					ENST00000339208.6:c.1289T>A	p.Val430Glu	p.V430E	ENST00000339208	NM_001163544.1	430	gTg/gAg	0	not done		possiblydamaging	
KIAA0319L		inserm.fr	GRCh37	1	35936495	35936495	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000325722.3:c.1082G>A	p.Gly361Glu	p.G361E	ENST00000325722	NM_024874.4	361	gGg/gAg	0	not done		possiblydamaging	
SYNRG		inserm.fr	GRCh37	17	35937624	35937624	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000339208.6:c.677G>A	p.Gly226Asp	p.G226D	ENST00000339208	NM_001163544.1	226	gGc/gAc	0	not done		possiblydamaging	
KIAA0319L		inserm.fr	GRCh37	1	35940491	35940491	+	synonymous_variant	Silent	SNP	C	T	T			CHC361TA																					ENST00000325722.3:c.930G>A	p.Val310=	p.V310=	ENST00000325722	NM_024874.4	310	gtG/gtA	0	validated		synonymous	
SYNRG		inserm.fr	GRCh37	17	35946537	35946537	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC097T																					ENST00000339208.6:c.361G>A	p.Glu121Lys	p.E121K	ENST00000339208	NM_001163544.1	121	Gaa/Aaa	0	not done		probablydamaging	
IRX1		inserm.fr	GRCh37	5	3600021	3600021	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1209T																					ENST00000302006.3:c.959C>T	p.Ala320Val	p.A320V	ENST00000302006	NM_024337.3	320	gCg/gTg	0	not done		probablydamaging	
TBXA2R		inserm.fr	GRCh37	19	3600286	3600286	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC912T									Valid												ENST00000411851.3:c.347G>A	p.Gly116Asp	p.G116D	ENST00000411851		116	gGc/gAc	0	validated		probablydamaging	
CXorf22		inserm.fr	GRCh37	X	36007496	36007496	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000297866.5:c.2774C>T	p.Ser925Phe	p.S925F	ENST00000297866	NM_152632.3	925	tCt/tTt	0	not done		probablydamaging	
SBSN		inserm.fr	GRCh37	19	36018760	36018760	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000452271.2:c.424G>A	p.Ala142Thr	p.A142T	ENST00000452271	NM_001166034.1	142	Gcc/Acc	0	not done			
MAPK14		inserm.fr	GRCh37	6	36027084	36027084	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1205T																					ENST00000229795.3:c.265G>T	p.Val89Phe	p.V89F	ENST00000229795	NM_001315.2	89	Gtt/Ttt	0	not done		probablydamaging	
GAPDHS		inserm.fr	GRCh37	19	36029239	36029239	+	synonymous_variant	Silent	SNP	C	T	T			CHC155T																					ENST00000222286.4:c.276C>T	p.Arg92=	p.R92=	ENST00000222286	NM_014364.4	92	cgC/cgT	0	validated		synonymous	
GAPDHS		inserm.fr	GRCh37	19	36034322	36034322	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000222286.4:c.822C>T	p.Ala274=	p.A274=	ENST00000222286	NM_014364.4	274	gcC/gcT	0	not done		synonymous	
GAPDHS		inserm.fr	GRCh37	19	36034651	36034651	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000222286.4:c.978C>T	p.Pro326=	p.P326=	ENST00000222286	NM_014364.4	326	ccC/ccT	0	not done		synonymous	
TMEM147		inserm.fr	GRCh37	19	36038255	36038255	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1598T																					ENST00000222284.5:c.581G>T	p.Ser194Ile	p.S194I	ENST00000222284	NM_032635.3	194	aGt/aTt	0	not done		probablydamaging	
NBEA		inserm.fr	GRCh37	13	36046601	36046601	+	synonymous_variant	Silent	SNP	C	T	T			CHC2103T																					ENST00000400445.3:c.6513C>T	p.Leu2171=	p.L2171=	ENST00000400445	NM_015678.4	2171	ctC/ctT	0	not done		synonymous	
MAB21L1		inserm.fr	GRCh37	13	36049230	36049230	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM723T																					ENST00000379919.4:c.1046T>A	p.Ile349Asn	p.I349N	ENST00000379919	NM_005584.4	349	aTc/aAc	0	validated		possiblydamaging	
MAB21L1		inserm.fr	GRCh37	13	36049811	36049811	+	synonymous_variant	Silent	SNP	G	T	T			CHC1186T																					ENST00000379919.4:c.465C>A	p.Thr155=	p.T155=	ENST00000379919	NM_005584.4	155	acC/acA	0	not done		synonymous	
ATP4A		inserm.fr	GRCh37	19	36050892	36050892	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000262623.3:c.871G>A	p.Glu291Lys	p.E291K	ENST00000262623	NM_000704.2	291	Gag/Aag	0	not done		probablydamaging	
HNF1B		inserm.fr	GRCh37	17	36061046	36061046	+	synonymous_variant	Silent	SNP	G	T	T			CHC2127T																					ENST00000225893.4:c.1476C>A	p.Gly492=	p.G492=	ENST00000225893	NM_001165923.1	492	ggC/ggA	0	validated		synonymous	
RECK		inserm.fr	GRCh37	9	36083422	36083422	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000377966.3:c.500C>T	p.Ala167Val	p.A167V	ENST00000377966	NM_021111.2	167	gCc/gTc	0	not done		possiblydamaging	
HAUS5		inserm.fr	GRCh37	19	36109871	36109871	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM545T																					ENST00000203166.5:c.1099G>T	p.Asp367Tyr	p.D367Y	ENST00000203166	NM_015302.1	367	Gat/Tat	0	validated		possiblydamaging	
CHDC2		inserm.fr	GRCh37	X	36116962	36116962	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC796T																					ENST00000313548.4:c.694G>T	p.Glu232Ter	p.E232*	ENST00000313548	NM_173695.2	232	Gaa/Taa	0	validated		damaging	
CACTIN		inserm.fr	GRCh37	19	3613360	3613360	+	synonymous_variant	Silent	SNP	C	T	T			CHC303T																					ENST00000429344.2:c.1482G>A	p.Leu494=	p.L494=	ENST00000429344	NM_001080543.1	494	ctG/ctA	0	validated		synonymous	
LMBRD2		inserm.fr	GRCh37	5	36142657	36142657	+	synonymous_variant	Silent	SNP	A	T	T			CHC1028T																					ENST00000296603.4:c.219T>A	p.Pro73=	p.P73=	ENST00000296603	NM_001007527.1	73	ccT/ccA	0	not done		synonymous	
NLRC3		inserm.fr	GRCh37	16	3614742	3614742	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1052T																					ENST00000448023.2:c.337C>A	p.His113Asn	p.H113N	ENST00000448023		113	Cac/Aac	0	validated		possiblydamaging	
NNAT		inserm.fr	GRCh37	20	36149791	36149791	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000062104.2:c.58C>T	p.Arg20Cys	p.R20C	ENST00000062104	NM_005386.2	20	Cgc/Tgc	0	not done		probablydamaging	
ARAP2		inserm.fr	GRCh37	4	36150046	36150046	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000303965.4:c.2981G>A	p.Trp994Ter	p.W994*	ENST00000303965	NM_015230.3	994	tGg/tAg	0	not done		damaging	
SKP2		inserm.fr	GRCh37	5	36166629	36166629	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1725T																					ENST00000274255.6:c.401A>T	p.Glu134Val	p.E134V	ENST00000274255	NM_005983.3	134	gAg/gTg	0	not done		possiblydamaging	
BRPF3		inserm.fr	GRCh37	6	36185758	36185758	+	synonymous_variant	Silent	SNP	C	T	T			BCM337T																					ENST00000357641.6:c.3054C>T	p.Leu1018=	p.L1018=	ENST00000357641	NM_015695.2	1018	ctC/ctT	0	validated		synonymous	
ZBTB32		inserm.fr	GRCh37	19	36205539	36205539	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000392197.2:c.11C>T	p.Pro4Leu	p.P4L	ENST00000392197		4	cCc/cTc	0	not done		benign	
ZBTB32		inserm.fr	GRCh37	19	36207038	36207038	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000392197.2:c.1028C>T	p.Ala343Val	p.A343V	ENST00000392197		343	gCa/gTa	0	not done		benign	
MLL4		inserm.fr	GRCh37	19	36210796	36210796	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC923T																					ENST00000222270.7:c.547G>T	p.Glu183Ter	p.E183*	ENST00000222270	NM_014727.1	183	Gag/Tag	0	not done		damaging	
MLL4		inserm.fr	GRCh37	19	36210910	36210910	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000222270.7:c.661G>T	p.Gly221Ter	p.G221*	ENST00000222270	NM_014727.1	221	Gga/Tga	0	not done		damaging	
CLSPN		inserm.fr	GRCh37	1	36213565	36213565	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM423T																					ENST00000318121.3:c.2570G>A	p.Gly857Glu	p.G857E	ENST00000318121	NM_022111.3	857	gGa/gAa	0	validated		probablydamaging	
MLL4		inserm.fr	GRCh37	19	36216680	36216680	+	synonymous_variant	Silent	SNP	C	T	T			CHC1629T																					ENST00000222270.7:c.3846C>T	p.Pro1282=	p.P1282=	ENST00000222270	NM_014727.1	1282	ccC/ccT	0	not done		synonymous	
GNE		inserm.fr	GRCh37	9	36219877	36219877	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1600T																					ENST00000396594.3:c.1867T>A	p.Ser623Thr	p.S623T	ENST00000396594	NM_001128227.2	623	Tct/Act	0	not done		probablydamaging	
NBEA		inserm.fr	GRCh37	13	36225959	36225959	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM337T																					ENST00000400445.3:c.7918G>T	p.Gly2640Ter	p.G2640*	ENST00000400445	NM_015678.4	2640	Gga/Tga	0	validated		damaging	
THEG		inserm.fr	GRCh37	19	362289	362289	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000342640.4:c.1051G>A	p.Gly351Arg	p.G351R	ENST00000342640	NM_016585.4	351	Gga/Aga	0	not done		probablydamaging	
IGFLR1		inserm.fr	GRCh37	19	36231451	36231451	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC301T																					ENST00000592537.1:c.172G>A	p.Glu58Lys	p.E58K	ENST00000592537		58	Gaa/Aaa	0	validated		possiblydamaging	
CACTIN		inserm.fr	GRCh37	19	3624017	3624017	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000429344.2:c.311G>A	p.Arg104Gln	p.R104Q	ENST00000429344	NM_001080543.1	104	cGg/cAg	0	not done		benign	
GNE		inserm.fr	GRCh37	9	36246116	36246116	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2200T																					ENST00000396594.3:c.621T>A	p.Asp207Glu	p.D207E	ENST00000396594	NM_001128227.2	207	gaT/gaA	0	not done		benign	
ARHGAP33		inserm.fr	GRCh37	19	36271113	36271113	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000314737.5:c.502C>T	p.Leu168=	p.L168=	ENST00000314737	NM_052948.3	168	Ctg/Ttg	0	not done		damaging	
GSG2		inserm.fr	GRCh37	17	3628153	3628153	+	synonymous_variant	Silent	SNP	C	T	T			BCM791T																					ENST00000325418.4:c.924C>T	p.Ala308=	p.A308=	ENST00000325418	NM_031965.2	308	gcC/gcT	0	validated		synonymous	
C6orf222		inserm.fr	GRCh37	6	36288948	36288948	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000437635.2:c.1652G>A	p.Gly551Asp	p.G551D	ENST00000437635	NM_001010903.4	551	gGc/gAc	0	not done		possiblydamaging	
AGO4		inserm.fr	GRCh37	1	36307220	36307220	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1611T																					ENST00000373210.3:c.2044G>T	p.Ala682Ser	p.A682S	ENST00000373210	NM_017629.3	682	Gct/Tct	0	not done		benign	
NPHS1		inserm.fr	GRCh37	19	36338949	36338949	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000378910.5:c.1434G>A	p.Trp478Ter	p.W478*	ENST00000378910	NM_004646.3	478	tgG/tgA	0	not done		damaging	
NPHS1		inserm.fr	GRCh37	19	36340209	36340209	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000378910.5:c.769G>A	p.Ala257Thr	p.A257T	ENST00000378910	NM_004646.3	257	Gca/Aca	0	not done		probablydamaging	
DTHD1		inserm.fr	GRCh37	4	36345228	36345228	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC703T																					ENST00000456874.2:c.2128C>T	p.Leu710Phe	p.L710F	ENST00000456874	NM_001170700.2	710	Ctc/Ttc	0	validated		probablydamaging	
KIRREL2		inserm.fr	GRCh37	19	36351556	36351556	+	synonymous_variant	Silent	SNP	G	T	T			CHC1052T																					ENST00000360202.5:c.915G>T	p.Ala305=	p.A305=	ENST00000360202	NM_032123.5	305	gcG/gcT	0	validated		synonymous	
EIF2C1		inserm.fr	GRCh37	1	36359376	36359376	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000373204.4:c.614G>T	p.Arg205Leu	p.R205L	ENST00000373204	NM_012199.2	205	cGc/cTc	0	not done		probablydamaging	
APLP1		inserm.fr	GRCh37	19	36369983	36369983	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000221891.4:c.1721C>T	p.Ala574Val	p.A574V	ENST00000221891	NM_001024807.1	574	gCt/gTt	0	not done		benign	
EIF2C1		inserm.fr	GRCh37	1	36372574	36372574	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM483T									Valid												ENST00000373204.4:c.1436C>T	p.Ala479Val	p.A479V	ENST00000373204	NM_012199.2	479	gCg/gTg	0	validated		possiblydamaging	
CXorf30		inserm.fr	GRCh37	X	36379537	36379537	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1177T																					ENST00000378657.4:c.1282A>T	p.Ile428Phe	p.I428F	ENST00000378657	NM_001098843.4	428	Att/Ttt	0	not done		benign	
TP73		inserm.fr	GRCh37	1	3638707	3638707	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000378295.4:c.552G>T	p.Ala184=	p.A184=	ENST00000378295	NM_005427.3	184	gcG/gcT	0	not done		synonymous	
HCST		inserm.fr	GRCh37	19	36394799	36394799	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000246551.4:c.235G>T	p.Ala79Ser	p.A79S	ENST00000246551		79	Gcc/Tcc	0	validated		benign	
TYROBP		inserm.fr	GRCh37	19	36398431	36398431	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2206T																					ENST00000262629.4:c.146G>A	p.Gly49Glu	p.G49E	ENST00000262629	NM_198125.2	49	gGa/gAa	0	not done		probablydamaging	
SLX4		inserm.fr	GRCh37	16	3640010	3640010	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1715T																					ENST00000294008.3:c.3629G>A	p.Ser1210Asn	p.S1210N	ENST00000294008	NM_032444.2	1210	aGc/aAc	0	not done		benign	
DCLK1		inserm.fr	GRCh37	13	36428655	36428655	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000255448.4:c.1016G>A	p.Gly339Glu	p.G339E	ENST00000255448	NM_004734.4	339	gGa/gAa	0	not done		possiblydamaging	
ANLN		inserm.fr	GRCh37	7	36438851	36438851	+	synonymous_variant	Silent	SNP	C	T	T			CHC912T																					ENST00000265748.2:c.336C>T	p.Thr112=	p.T112=	ENST00000265748	NM_018685.2	112	acC/acT	0	validated		synonymous	
GPR179		inserm.fr	GRCh37	17	36483307	36483307	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC451T																					ENST00000342292.4:c.6145C>A	p.Pro2049Thr	p.P2049T	ENST00000342292	NM_001004334.2	2049	Cca/Aca	0	validated		possiblydamaging	
GPR179		inserm.fr	GRCh37	17	36486254	36486254	+	synonymous_variant	Silent	SNP	G	T	T			CHC1192T																					ENST00000342292.4:c.3198C>A	p.Pro1066=	p.P1066=	ENST00000342292	NM_001004334.2	1066	ccC/ccA	0	not done		synonymous	
SYNE4		inserm.fr	GRCh37	19	36497553	36497553	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000324444.3:c.639G>A	p.Thr213=	p.T213=	ENST00000324444	NM_001039876.1	213	acG/acA	0	validated		synonymous	
PRMT8		inserm.fr	GRCh37	12	3649889	3649889	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000382622.3:c.193C>T	p.Leu65=	p.L65=	ENST00000382622	NM_019854.4	65	Ctg/Ttg	0	not done		synonymous	
PIP5K1C		inserm.fr	GRCh37	19	3651986	3651986	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC306T																					ENST00000335312.3:c.965G>A	p.Gly322Asp	p.G322D	ENST00000335312	NM_012398.2	322	gGc/gAc	0	validated		probablydamaging	
ADAM33		inserm.fr	GRCh37	20	3652587	3652587	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000356518.2:c.1643C>A	p.Ala548Glu	p.A548E	ENST00000356518	NM_025220.2	548	gCg/gAg	0	not done		probablydamaging	
THAP8		inserm.fr	GRCh37	19	36530860	36530860	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC884T																					ENST00000292894.1:c.262G>A	p.Gly88Arg	p.G88R	ENST00000292894	NM_152658.2	88	Gga/Aga	0	validated		benign	
TEKT2		inserm.fr	GRCh37	1	36551635	36551635	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000207457.3:c.481C>T	p.Gln161Ter	p.Q161*	ENST00000207457	NM_014466.2	161	Cag/Tag	0	not done		damaging	
AOAH		inserm.fr	GRCh37	7	36552758	36552758	+	3_prime_UTR_variant	3'UTR	SNP	C	T	T			CHC892T																					ENST00000258749.5:c.*100G>A		*34*	ENST00000258749	NM_001637.3			0	not done		synonymous	
COL8A2		inserm.fr	GRCh37	1	36563383	36563383	+	synonymous_variant	Silent	SNP	C	T	T			BCM791T																					ENST00000397799.1:c.1899G>A	p.Val633=	p.V633=	ENST00000397799		633	gtG/gtA	0	validated		synonymous	
SLX4		inserm.fr	GRCh37	16	3656600	3656600	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM321T																					ENST00000294008.3:c.635G>A	p.Arg212Gln	p.R212Q	ENST00000294008	NM_032444.2	212	cGa/cAa	0	validated		probablydamaging	
ITGAE		inserm.fr	GRCh37	17	3656652	3656652	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000263087.4:c.1600G>A	p.Val534Met	p.V534M	ENST00000263087	NM_002208.4	534	Gtg/Atg	0	not done		probablydamaging	
RAG1		inserm.fr	GRCh37	11	36596960	36596960	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM501T																					ENST00000299440.5:c.2106G>T	p.Lys702Asn	p.K702N	ENST00000299440	NM_000448.2	702	aaG/aaT	0	validated		benign	
TRAPPC3		inserm.fr	GRCh37	1	36605364	36605364	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000373166.3:c.197G>A	p.Gly66Glu	p.G66E	ENST00000373166	NM_014408.4	66	gGg/gAg	0	not done		probablydamaging	
RAG2		inserm.fr	GRCh37	11	36614388	36614388	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCB167T																					ENST00000311485.3:c.1331T>A	p.Ile444Asn	p.I444N	ENST00000311485	NM_000536.3	444	aTc/aAc	0	validated		probablydamaging	
RAG2		inserm.fr	GRCh37	11	36614818	36614818	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000311485.3:c.901G>A	p.Glu301Lys	p.E301K	ENST00000311485	NM_000536.3	301	Gag/Aag	0	validated		possiblydamaging	
ITGAE		inserm.fr	GRCh37	17	3662827	3662827	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000263087.4:c.735G>A	p.Gln245=	p.Q245=	ENST00000263087	NM_002208.4	245	caG/caA	0	validated		synonymous	
C11orf74		inserm.fr	GRCh37	11	36631786	36631786	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC2099T																					ENST00000532470.2:c.133C>T	p.Gln45Ter	p.Q45*	ENST00000532470		45	Caa/Taa	0	not done		damaging	
CDKN1A		inserm.fr	GRCh37	6	36652044	36652044	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC2208T																					ENST00000244741.5:c.166G>T	p.Glu56Ter	p.E56*	ENST00000244741	NM_000389.4	56	Gag/Tag	0	not done		damaging	
CRIM1		inserm.fr	GRCh37	2	36669766	36669766	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2127T																					ENST00000280527.2:c.757G>T	p.Val253Leu	p.V253L	ENST00000280527	NM_016441.2	253	Gtg/Ttg	0	not done		probablydamaging	
ZNF565		inserm.fr	GRCh37	19	36673574	36673574	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC303T																					ENST00000392173.2:c.1294T>A	p.Ser432Thr	p.S432T	ENST00000392173	NM_001042474.1	432	Tca/Aca	0	validated		benign	
SRCIN1		inserm.fr	GRCh37	17	36689666	36689666	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000264659.7:c.3418G>A	p.Ala1140Thr	p.A1140T	ENST00000264659	NM_025248.2	1140	Gcc/Acc	0	not done		benign	
MYH9		inserm.fr	GRCh37	22	36702601	36702601	+	synonymous_variant	Silent	SNP	C	T	T			CHC917T																					ENST00000216181.5:c.1896G>A	p.Leu632=	p.L632=	ENST00000216181	NM_002473.4	632	ctG/ctA	0	validated		synonymous	
CPNE5		inserm.fr	GRCh37	6	36710048	36710048	+	synonymous_variant	Silent	SNP	G	T	T			CHC796T																					ENST00000244751.2:c.1779C>A	p.Ile593=	p.I593=	ENST00000244751	NM_020939.1	593	atC/atA	0	validated		synonymous	
CPNE5		inserm.fr	GRCh37	6	36733126	36733126	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000244751.2:c.765G>A	p.Trp255Ter	p.W255*	ENST00000244751	NM_020939.1	255	tgG/tgA	0	not done		damaging	
THRAP3		inserm.fr	GRCh37	1	36762235	36762235	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC303T									Valid												ENST00000354618.5:c.2167C>T	p.Arg723Cys	p.R723C	ENST00000354618	NM_005119.3	723	Cgt/Tgt	0	validated		probablydamaging	
SOHLH2		inserm.fr	GRCh37	13	36764145	36764145	+	synonymous_variant	Silent	SNP	C	T	T			BCM703T																					ENST00000511166.1:c.810G>A	p.Leu270=	p.L270=	ENST00000511166	NM_001198910.1	270	ttG/ttA	0	validated		synonymous	
SOHLH2		inserm.fr	GRCh37	13	36765959	36765959	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000511166.1:c.734G>A	p.Gly245Glu	p.G245E	ENST00000511166	NM_001198910.1	245	gGa/gAa	0	not done		benign	
THRAP3		inserm.fr	GRCh37	1	36766595	36766595	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2141T																					ENST00000354618.5:c.2412G>T	p.Glu804Asp	p.E804D	ENST00000354618	NM_005119.3	804	gaG/gaT	0	not done		probablydamaging	
KCNU1		inserm.fr	GRCh37	8	36768476	36768476	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T									Valid												ENST00000399881.3:c.2360A>T	p.His787Leu	p.H787L	ENST00000399881	NM_001031836.2	787	cAt/cTt	0	validated		probablydamaging	
TGM2		inserm.fr	GRCh37	20	36769749	36769749	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1736T																					ENST00000361475.2:c.1034C>A	p.Pro345Gln	p.P345Q	ENST00000361475	NM_004613.2	345	cCg/cAg	0	not done		probablydamaging	
C17orf96		inserm.fr	GRCh37	17	36830592	36830592	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000325814.5:c.157G>A	p.Ala53Thr	p.A53T	ENST00000325814	NM_001130677.1	53	Gcg/Acg	0	not done		benign	
KIAA1755		inserm.fr	GRCh37	20	36842057	36842057	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM339T																					ENST00000279024.4:c.2990G>A	p.Arg997His	p.R997H	ENST00000279024	NM_001029864.1	997	cGc/cAc	0	validated		possiblydamaging	
KIAA1755		inserm.fr	GRCh37	20	36851949	36851949	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000279024.4:c.2259G>A	p.Gly753=	p.G753=	ENST00000279024	NM_001029864.1	753	ggG/ggA	0	not done		synonymous	
KIAA1755		inserm.fr	GRCh37	20	36855602	36855602	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000279024.4:c.2006G>A	p.Gly669Glu	p.G669E	ENST00000279024	NM_001029864.1	669	gGg/gAg	0	not done		probablydamaging	
C6orf89		inserm.fr	GRCh37	6	36867382	36867382	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1065T																					ENST00000355190.3:c.183G>T	p.Gln61His	p.Q61H	ENST00000355190	NM_152734.3	61	caG/caT	0	validated		probablydamaging	
TRANK1		inserm.fr	GRCh37	3	36872454	36872454	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1035T																					ENST00000429976.2:c.8488C>A	p.His2830Asn	p.H2830N	ENST00000429976		2830	Cac/Aac	0	validated		probablydamaging	
MLLT6		inserm.fr	GRCh37	17	36879009	36879009	+	synonymous_variant	Silent	SNP	G	T	T			CHC303T																					ENST00000325718.7:c.2871G>T	p.Pro957=	p.P957=	ENST00000325718	NM_005937.3	957	ccG/ccT	0	validated		synonymous	
TRANK1		inserm.fr	GRCh37	3	36879905	36879905	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000429976.2:c.5343G>A	p.Lys1781=	p.K1781=	ENST00000429976		1781	aaG/aaA	0	not done		synonymous	
ZFP82		inserm.fr	GRCh37	19	36884653	36884653	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB109T									Valid												ENST00000392161.3:c.589C>A	p.Pro197Thr	p.P197T	ENST00000392161	NM_133466.2	197	Ccg/Acg	0	validated		probablydamaging	
TRANK1		inserm.fr	GRCh37	3	36898793	36898793	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000429976.2:c.2288G>A	p.Gly763Glu	p.G763E	ENST00000429976		763	gGg/gAg	0	not done		possiblydamaging	
COLEC11		inserm.fr	GRCh37	2	3691088	3691088	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1192T																					ENST00000418971.2:c.425A>T	p.Gln142Leu	p.Q142L	ENST00000418971	NM_001255985.1	142	cAg/cTg	0	not done		benign	
CHRNA10		inserm.fr	GRCh37	11	3691154	3691154	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000250699.2:c.79G>A	p.Gly27Ser	p.G27S	ENST00000250699	NM_020402.2	27	Ggc/Agc	0	not done		probablydamaging	
PSMB3		inserm.fr	GRCh37	17	36916707	36916707	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1603T																					ENST00000225426.4:c.320C>T	p.Pro107Leu	p.P107L	ENST00000225426	NM_002795.2	107	cCa/cTa	0	not done		probablydamaging	
MTCH1		inserm.fr	GRCh37	6	36953677	36953677	+	synonymous_variant	Silent	SNP	G	T	T			CHC258T																					ENST00000373616.5:c.273C>A	p.Gly91=	p.G91=	ENST00000373616	NM_014341.2	91	ggC/ggA	0	validated		synonymous	
NIPBL		inserm.fr	GRCh37	5	36962311	36962311	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1028T																					ENST00000282516.8:c.545G>T	p.Ser182Ile	p.S182I	ENST00000282516	NM_133433.3	182	aGc/aTc	0	not done		probablydamaging	
NIPBL		inserm.fr	GRCh37	5	36976245	36976245	+	synonymous_variant	Silent	SNP	C	T	T			CHC1751T																					ENST00000282516.8:c.1236C>T	p.Arg412=	p.R412=	ENST00000282516	NM_133433.3	412	cgC/cgT	0	not done		synonymous	
NIPBL		inserm.fr	GRCh37	5	36976400	36976400	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1592T																					ENST00000282516.8:c.1391C>T	p.Pro464Leu	p.P464L	ENST00000282516	NM_133433.3	464	cCt/cTt	0	not done		benign	
NKX2-1		inserm.fr	GRCh37	14	36987006	36987006	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC197T									Valid												ENST00000354822.5:c.683T>A	p.Ile228Asn	p.I228N	ENST00000354822	NM_001079668.2	228	aTc/aAc	0	validated		probablydamaging	
LBP		inserm.fr	GRCh37	20	36999952	36999952	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1746T																					ENST00000217407.2:c.1246G>T	p.Val416Phe	p.V416F	ENST00000217407	NM_004139.3	416	Gtt/Ttt	0	not done		benign	
LBP		inserm.fr	GRCh37	20	37005281	37005281	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1192T																					ENST00000217407.2:c.1416G>T	p.Leu472Phe	p.L472F	ENST00000217407	NM_004139.3	472	ttG/ttT	0	not done		benign	
FAM47C		inserm.fr	GRCh37	X	37026636	37026636	+	synonymous_variant	Silent	SNP	G	T	T			CHC327T																					ENST00000358047.3:c.153G>T	p.Val51=	p.V51=	ENST00000358047	NM_001013736.2	51	gtG/gtT	0	validated		synonymous	
EPM2AIP1		inserm.fr	GRCh37	3	37032991	37032991	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000322716.5:c.1578G>A	p.Gly526=	p.G526=	ENST00000322716	NM_014805.3	526	ggG/ggA	0	not done		synonymous	
EPM2AIP1		inserm.fr	GRCh37	3	37033992	37033992	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000322716.5:c.577G>A	p.Val193Ile	p.V193I	ENST00000322716	NM_014805.3	193	Gtc/Atc	0	validated		probablydamaging	
VIT		inserm.fr	GRCh37	2	37035876	37035876	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000379242.3:c.1651G>T	p.Ala551Ser	p.A551S	ENST00000379242	NM_053276.3	551	Gcc/Tcc	0	not done		probablydamaging	
VIT		inserm.fr	GRCh37	2	37035994	37035994	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1185T																					ENST00000379242.3:c.1769G>T	p.Gly590Val	p.G590V	ENST00000379242	NM_053276.3	590	gGg/gTg	0	not done		probablydamaging	
LRRC47		inserm.fr	GRCh37	1	3703782	3703782	+	synonymous_variant	Silent	SNP	C	T	T			CHC1595T																					ENST00000378251.1:c.708G>A	p.Lys236=	p.K236=	ENST00000378251	NM_020710.2	236	aaG/aaA	0	validated		synonymous	
STRN		inserm.fr	GRCh37	2	37082481	37082481	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000263918.4:c.1852G>A	p.Ala618Thr	p.A618T	ENST00000263918	NM_003162.3	618	Gcc/Acc	0	not done		benign	
STRN		inserm.fr	GRCh37	2	37111116	37111116	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000263918.4:c.1145G>A	p.Ser382Asn	p.S382N	ENST00000263918	NM_003162.3	382	aGc/aAc	0	not done		benign	
ZNF382		inserm.fr	GRCh37	19	37118219	37118219	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2052T																					ENST00000292928.2:c.1420C>T	p.Arg474Cys	p.R474C	ENST00000292928	NM_032825.4	474	Cgc/Tgc	0	not done		probablydamaging	
ZNF382		inserm.fr	GRCh37	19	37118236	37118236	+	synonymous_variant	Silent	SNP	C	T	T			CHC304T																					ENST00000292928.2:c.1437C>T	p.Leu479=	p.L479=	ENST00000292928	NM_032825.4	479	ctC/ctT	0	validated		synonymous	
PAX9		inserm.fr	GRCh37	14	37132675	37132675	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361487.6:c.578C>T	p.Pro193Leu	p.P193L	ENST00000361487		193	cCc/cTc	0	not done		probablydamaging	
PAX9		inserm.fr	GRCh37	14	37135715	37135715	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1739T																					ENST00000361487.6:c.680G>T	p.Ser227Ile	p.S227I	ENST00000361487		227	aGc/aTc	0	validated		benign	
TMEM217		inserm.fr	GRCh37	6	37183047	37183047	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000336655.2:c.617G>A	p.Ser206Asn	p.S206N	ENST00000336655	NM_145316.3	206	aGc/aAc	0	not done		benign	
HEATR5B		inserm.fr	GRCh37	2	37229659	37229659	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000233099.5:c.5107G>A	p.Gly1703Ser	p.G1703S	ENST00000233099	NM_019024.1	1703	Ggt/Agt	0	validated		possiblydamaging	
HEATR5B		inserm.fr	GRCh37	2	37265124	37265124	+	synonymous_variant	Silent	SNP	C	T	T			CHC884T																					ENST00000233099.5:c.3090G>A	p.Val1030=	p.V1030=	ENST00000233099	NM_019024.1	1030	gtG/gtA	0	validated		synonymous	
THEG		inserm.fr	GRCh37	19	372691	372691	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000342640.4:c.575G>A	p.Arg192His	p.R192H	ENST00000342640	NM_016585.4	192	cGc/cAc	0	not done		probablydamaging	
GRIK3		inserm.fr	GRCh37	1	37291417	37291417	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1624T																					ENST00000373091.3:c.1541T>A	p.Leu514Gln	p.L514Q	ENST00000373091	NM_000831.3	514	cTg/cAg	0	validated		probablydamaging	
C17orf85		inserm.fr	GRCh37	17	3729381	3729381	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000389005.4:c.610G>A	p.Asp204Asn	p.D204N	ENST00000389005	NM_001114118.2	204	Gac/Aac	0	not done		probablydamaging	
C17orf85		inserm.fr	GRCh37	17	3729421	3729421	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000389005.4:c.570G>A	p.Arg190=	p.R190=	ENST00000389005	NM_001114118.2	190	agG/agA	0	not done		synonymous	
HEATR5B		inserm.fr	GRCh37	2	37295954	37295954	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000233099.5:c.1047G>A	p.Glu349=	p.E349=	ENST00000233099	NM_019024.1	349	gaG/gaA	0	not done		synonymous	
NUP155		inserm.fr	GRCh37	5	37305253	37305253	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1190T																					ENST00000231498.3:c.2963C>A	p.Ala988Asp	p.A988D	ENST00000231498	NM_153485.2	988	gCc/gAc	0	validated		possiblydamaging	
ALLC		inserm.fr	GRCh37	2	3730543	3730543	+	synonymous_variant	Silent	SNP	C	T	T			CHC1915T																					ENST00000252505.3:c.390C>T	p.Asp130=	p.D130=	ENST00000252505	NM_018436.3	130	gaC/gaT	0	validated		synonymous	
HSPA12B		inserm.fr	GRCh37	20	3730649	3730649	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC801T																					ENST00000254963.2:c.1076C>T	p.Ala359Val	p.A359V	ENST00000254963	NM_052970.4	359	gCc/gTc	0	not done		possiblydamaging	
B4GALNT4		inserm.fr	GRCh37	11	373199	373199	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000329962.6:c.544C>T	p.Gln182Ter	p.Q182*	ENST00000329962	NM_178537.4	182	Cag/Tag	0	not done		damaging	
GRIK3		inserm.fr	GRCh37	1	37325445	37325445	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000373091.3:c.960G>A	p.Met320Ile	p.M320I	ENST00000373091	NM_000831.3	320	atG/atA	0	not done		benign	
CSF2RB		inserm.fr	GRCh37	22	37326543	37326543	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000403662.3:c.845C>T	p.Pro282Leu	p.P282L	ENST00000403662		282	cCa/cTa	0	not done		benign	
CSF2RB		inserm.fr	GRCh37	22	37329977	37329977	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000403662.3:c.1256C>T	p.Thr419Ile	p.T419I	ENST00000403662		419	aCc/aTc	0	not done		possiblydamaging	
LOC100507439		inserm.fr	GRCh37	8	37333505	37333505	+	non_coding_transcript_exon_variant	RNA	SNP	G	T	T			CHC1715T																					ENST00000522718.1:n.502C>A		*168*	ENST00000522718				0	not done			
CACNB1		inserm.fr	GRCh37	17	37334305	37334305	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000394303.3:c.1078G>A	p.Gly360Arg	p.G360R	ENST00000394303	NM_000723.4	360	Gga/Aga	0	not done		probablydamaging	
CACNB1		inserm.fr	GRCh37	17	37340052	37340052	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1205T																					ENST00000394303.3:c.964G>A	p.Asp322Asn	p.D322N	ENST00000394303	NM_000723.4	322	Gat/Aat	0	not done		probablydamaging	
SLC32A1		inserm.fr	GRCh37	20	37356986	37356986	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000217420.1:c.1282C>T	p.Leu428=	p.L428=	ENST00000217420	NM_080552.2	428	Ctg/Ttg	0	not done		synonymous	
GOLGA4		inserm.fr	GRCh37	3	37368751	37368751	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC884T																					ENST00000356847.4:c.5440A>T	p.Ser1814Cys	p.S1814C	ENST00000356847	NM_001172713.1	1814	Agt/Tgt	0	validated		benign	
STAC2		inserm.fr	GRCh37	17	37381680	37381680	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T																					ENST00000333461.5:c.76C>A	p.Leu26Ile	p.L26I	ENST00000333461	NM_198993.3	26	Ctc/Atc	0	validated		benign	
TEX33		inserm.fr	GRCh37	22	37387633	37387633	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC1052T																					ENST00000405091.2:c.635-1G>A		p.X212_splice	ENST00000405091				0	validated		damaging	
TEX33		inserm.fr	GRCh37	22	37398032	37398032	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000405091.2:c.335G>A	p.Gly112Glu	p.G112E	ENST00000405091		112	gGg/gAg	0	not done		benign	
TST		inserm.fr	GRCh37	22	37414205	37414205	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC432T																					ENST00000403892.3:c.569G>A	p.Gly190Asp	p.G190D	ENST00000403892	NM_001270483.1	190	gGc/gAc	0	not done		probablydamaging	
DLGAP1		inserm.fr	GRCh37	18	3742374	3742374	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000315677.3:c.1311G>A	p.Arg437=	p.R437=	ENST00000315677	NM_004746.3	437	agG/agA	0	not done		synonymous	
ANKRD30A		inserm.fr	GRCh37	10	37431119	37431119	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1602T																					ENST00000361713.1:c.1126G>T	p.Ala376Ser	p.A376S	ENST00000361713	NM_052997.2	376	Gca/Tca	0	not done		probablydamaging	
KIAA1239		inserm.fr	GRCh37	4	37440913	37440913	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000309447.5:c.1197C>T	p.Asn399=	p.N399=	ENST00000309447	NM_001144990.1	399	aaC/aaT	0	not done		synonymous	
ZBTB5		inserm.fr	GRCh37	9	37442263	37442263	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2110Tbis																					ENST00000307750.4:c.286G>A	p.Val96Ile	p.V96I	ENST00000307750	NM_014872.2	96	Gta/Ata	0	not done		probablydamaging	
KIAA1239		inserm.fr	GRCh37	4	37448828	37448828	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2351T																					ENST00000309447.5:c.5218C>T	p.Pro1740Ser	p.P1740S	ENST00000309447	NM_001144990.1	1740	Cct/Tct	0	not done		benign	
KCTD17		inserm.fr	GRCh37	22	37453473	37453473	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000402077.3:c.447C>T	p.Cys149=	p.C149=	ENST00000402077	NM_024681.2	149	tgC/tgT	0	not done		synonymous	
PRKD3		inserm.fr	GRCh37	2	37480421	37480421	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC902T																					ENST00000379066.1:c.2572G>A	p.Asp858Asn	p.D858N	ENST00000379066		858	Gat/Aat	0	not done		probablydamaging	
PRKD3		inserm.fr	GRCh37	2	37487376	37487376	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM695T																					ENST00000379066.1:c.2036T>A	p.Met679Lys	p.M679K	ENST00000379066		679	aTg/aAg	0	validated		probablydamaging	
TMPRSS6		inserm.fr	GRCh37	22	37492738	37492738	+	synonymous_variant	Silent	SNP	G	T	T			CHC313T																					ENST00000346753.3:c.381C>A	p.Thr127=	p.T127=	ENST00000346753	NM_153609.2	127	acC/acA	0	validated		synonymous	
ANKRD30A		inserm.fr	GRCh37	10	37505167	37505167	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1594T																					ENST00000361713.1:c.2760A>T	p.Glu920Asp	p.E920D	ENST00000361713	NM_052997.2	920	gaA/gaT	0	not done		probablydamaging	
ANKRD30A		inserm.fr	GRCh37	10	37505209	37505209	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1616T																					ENST00000361713.1:c.2802A>T	p.Glu934Asp	p.E934D	ENST00000361713	NM_052997.2	934	gaA/gaT	0	not done		possiblydamaging	
ANKRD30A		inserm.fr	GRCh37	10	37508518	37508518	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2216T																					ENST00000361713.1:c.3710G>T	p.Cys1237Phe	p.C1237F	ENST00000361713	NM_052997.2	1237	tGt/tTt	0	not done		possiblydamaging	
ALG5		inserm.fr	GRCh37	13	37526735	37526735	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			BCM783T																					ENST00000239891.3:c.775G>A	p.Ala259Thr	p.A259T	ENST00000239891	NM_013338.4	259	Gca/Aca	0	validated		probablydamaging	
FBXO10		inserm.fr	GRCh37	9	37541628	37541628	+	synonymous_variant	Silent	SNP	C	T	T			CHC1211T																					ENST00000432825.2:c.138G>A	p.Arg46=	p.R46=	ENST00000432825	NM_012166.2	46	cgG/cgA	0	not done		synonymous	
ITGA9		inserm.fr	GRCh37	3	37565045	37565045	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1545T																					ENST00000264741.5:c.1270C>T	p.Arg424Trp	p.R424W	ENST00000264741	NM_002207.2	424	Cgg/Tgg	0	not done		probablydamaging	
B4GALNT4		inserm.fr	GRCh37	11	375670	375670	+	synonymous_variant	Silent	SNP	G	T	T			CHC1754T																					ENST00000329962.6:c.882G>T	p.Ala294=	p.A294=	ENST00000329962	NM_178537.4	294	gcG/gcT	0	not done		synonymous	
QPCT		inserm.fr	GRCh37	2	37571883	37571883	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000338415.3:c.9C>T	p.Gly3=	p.G3=	ENST00000338415	NM_012413.3	3	ggC/ggT	0	validated		synonymous	
FAM83D		inserm.fr	GRCh37	20	37580268	37580268	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC304T																					ENST00000217429.4:c.953G>T	p.Arg318Leu	p.R318L	ENST00000217429	NM_030919.2	318	cGa/cTa	0	validated		probablydamaging	
RP11-863K10.7		inserm.fr	GRCh37	8	37593825	37593825	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000330539.1:c.191G>A	p.Gly64Glu	p.G64E	ENST00000330539		64	gGg/gAg	0	not done			
MDGA1		inserm.fr	GRCh37	6	37606349	37606349	+	synonymous_variant	Silent	SNP	C	T	T			CHC121T																					ENST00000434837.3:c.2631G>A	p.Gln877=	p.Q877=	ENST00000434837	NM_153487.3	877	caG/caA	0	validated		synonymous	
DOPEY2		inserm.fr	GRCh37	21	37612127	37612127	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1186T																					ENST00000399151.3:c.2941G>T	p.Gly981Cys	p.G981C	ENST00000399151	NM_005128.2	981	Ggc/Tgc	0	not done		possiblydamaging	
CDK12		inserm.fr	GRCh37	17	37618891	37618891	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000447079.4:c.567G>T	p.Glu189Asp	p.E189D	ENST00000447079	NM_015083.1	189	gaG/gaT	0	not done		probablydamaging	
EFCAB4B		inserm.fr	GRCh37	12	3763565	3763565	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1052T									Valid												ENST00000440314.2:c.859C>A	p.Leu287Met	p.L287M	ENST00000440314	NM_001144958.1	287	Ctg/Atg	0	validated		probablydamaging	
CYBB		inserm.fr	GRCh37	X	37642827	37642827	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000378588.4:c.226C>T	p.Leu76=	p.L76=	ENST00000378588	NM_000397.3	76	Ctg/Ttg	0	not done		synonymous	
CENPB		inserm.fr	GRCh37	20	3766762	3766762	+	synonymous_variant	Silent	SNP	C	T	T			CHC469T																					ENST00000379751.4:c.369G>A	p.Leu123=	p.L123=	ENST00000379751	NM_001810.5	123	ctG/ctA	0	validated		synonymous	
ZNF585B		inserm.fr	GRCh37	19	37676210	37676210	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1596T																					ENST00000532828.2:c.2229C>A	p.Asp743Glu	p.D743E	ENST00000532828	NM_152279.3	743	gaC/gaA	0	validated		benign	
CDK12		inserm.fr	GRCh37	17	37680986	37680986	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1055T																					ENST00000447079.4:c.3155A>T	p.Gln1052Leu	p.Q1052L	ENST00000447079	NM_015083.1	1052	cAa/cTa	0	validated		probablydamaging	
MORC3		inserm.fr	GRCh37	21	37692569	37692569	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1629T																					ENST00000400485.1:c.7G>T	p.Ala3Ser	p.A3S	ENST00000400485	NM_015358.2	3	Gcg/Tcg	0	not done		benign	
MORC3		inserm.fr	GRCh37	21	37692570	37692570	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1629T																					ENST00000400485.1:c.8C>T	p.Ala3Val	p.A3V	ENST00000400485	NM_015358.2	3	gCg/gTg	0	not done		benign	
GPR124		inserm.fr	GRCh37	8	37697104	37697104	+	synonymous_variant	Silent	SNP	C	T	T			CHC1754T																					ENST00000412232.2:c.2475C>T	p.Gly825=	p.G825=	ENST00000412232	NM_032777.9	825	ggC/ggT	0	not done		synonymous	
GPR124		inserm.fr	GRCh37	8	37699488	37699488	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1534T																					ENST00000412232.2:c.3632C>T	p.Ala1211Val	p.A1211V	ENST00000412232	NM_032777.9	1211	gCg/gTg	0	validated		benign	
RAX2		inserm.fr	GRCh37	19	3770756	3770756	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1186T																					ENST00000555633.1:c.418C>A	p.Pro140Thr	p.P140T	ENST00000555633		140	Ccg/Acg	0	not done		benign	
MORC3		inserm.fr	GRCh37	21	37732362	37732362	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC801T																					ENST00000400485.1:c.1318G>T	p.Asp440Tyr	p.D440Y	ENST00000400485	NM_015358.2	440	Gac/Tac	0	not done		probablydamaging	
FRMPD1		inserm.fr	GRCh37	9	37733769	37733769	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM257T																					ENST00000539465.1:c.1165A>T	p.Ile389Phe	p.I389F	ENST00000539465		389	Atc/Ttc	0	validated		possiblydamaging	
MORC3		inserm.fr	GRCh37	21	37741856	37741856	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM321T																					ENST00000400485.1:c.2190G>T	p.Arg730Ser	p.R730S	ENST00000400485	NM_015358.2	730	agG/agT	0	validated		benign	
FRMPD1		inserm.fr	GRCh37	9	37746514	37746514	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC304T									Valid												ENST00000539465.1:c.4485G>T	p.Gln1495His	p.Q1495H	ENST00000539465		1495	caG/caT	0	validated		probablydamaging	
CAMKK1		inserm.fr	GRCh37	17	3775866	3775866	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2200T																					ENST00000158166.5:c.1220C>A	p.Pro407His	p.P407H	ENST00000158166	NM_172207.2	407	cCc/cAc	0	not done		benign	
CAMKK1		inserm.fr	GRCh37	17	3775867	3775867	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2200T																					ENST00000158166.5:c.1219C>A	p.Pro407Thr	p.P407T	ENST00000158166	NM_172207.2	407	Ccc/Acc	0	not done		benign	
ELFN2		inserm.fr	GRCh37	22	37770812	37770812	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM671T																					ENST00000402918.2:c.763G>A	p.Val255Met	p.V255M	ENST00000402918	NM_052906.3	255	Gtg/Atg	0	validated		probablydamaging	
CDC25B		inserm.fr	GRCh37	20	3777311	3777311	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM545T																					ENST00000245960.5:c.133C>T	p.Arg45Trp	p.R45W	ENST00000245960	NM_021873.2	45	Cgg/Tgg	0	validated		probablydamaging	
MATK		inserm.fr	GRCh37	19	3778289	3778289	+	synonymous_variant	Silent	SNP	G	T	T			CHC314T																					ENST00000395045.2:c.1419C>A	p.Arg473=	p.R473=	ENST00000395045	NM_002378.3	473	cgC/cgA	0	validated		synonymous	
CDC25B		inserm.fr	GRCh37	20	3778320	3778320	+	synonymous_variant	Silent	SNP	C	T	T			CHC121T																					ENST00000245960.5:c.252C>T	p.Arg84=	p.R84=	ENST00000245960	NM_021873.2	84	cgC/cgT	0	validated		synonymous	
EXOSC3		inserm.fr	GRCh37	9	37784938	37784938	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1545T																					ENST00000327304.5:c.104T>A	p.Leu35His	p.L35H	ENST00000327304	NM_016042.3	35	cTc/cAc	0	not done		possiblydamaging	
CREBBP		inserm.fr	GRCh37	16	3778756	3778756	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000262367.5:c.6292G>A	p.Ala2098Thr	p.A2098T	ENST00000262367	NM_004380.2	2098	Gca/Aca	0	not done		probablydamaging	
DCAF10		inserm.fr	GRCh37	9	37801178	37801178	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC879T																					ENST00000377724.3:c.315G>T	p.Lys105Asn	p.K105N	ENST00000377724	NM_024345.3	105	aaG/aaT	0	not done		benign	
TCAP		inserm.fr	GRCh37	17	37821621	37821621	+	synonymous_variant	Silent	SNP	C	T	T			CHC2215T																					ENST00000309889.2:c.9C>T	p.Thr3=	p.T3=	ENST00000309889		3	acC/acT	0	not done		synonymous	
ADRB3		inserm.fr	GRCh37	8	37823072	37823072	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2048T																					ENST00000345060.3:c.916T>A	p.Leu306Met	p.L306M	ENST00000345060	NM_000025.2	306	Ttg/Atg	0	not done		probablydamaging	
ADRB3		inserm.fr	GRCh37	8	37823156	37823156	+	synonymous_variant	Silent	SNP	G	T	T			CHC304T																					ENST00000345060.3:c.832C>A	p.Arg278=	p.R278=	ENST00000345060	NM_000025.2	278	Cgg/Agg	0	validated		synonymous	
PGAP3		inserm.fr	GRCh37	17	37829375	37829375	+	synonymous_variant	Silent	SNP	C	T	T			CHC1708T																					ENST00000300658.4:c.828G>A	p.Pro276=	p.P276=	ENST00000300658	NM_033419.3	276	ccG/ccA	0	not done		synonymous	
HKR1		inserm.fr	GRCh37	19	37838179	37838179	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1731T																					ENST00000324411.4:c.178G>T	p.Glu60Ter	p.E60*	ENST00000324411	NM_181786.2	60	Gag/Tag	0	not done		damaging	
CREBBP		inserm.fr	GRCh37	16	3786797	3786797	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1747T																					ENST00000262367.5:c.4414T>A	p.Trp1472Arg	p.W1472R	ENST00000262367	NM_004380.2	1472	Tgg/Agg	0	not done		probablydamaging	
CAMKK1		inserm.fr	GRCh37	17	3788841	3788841	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000158166.5:c.141G>A	p.Arg47=	p.R47=	ENST00000158166	NM_172207.2	47	cgG/cgA	0	not done		synonymous	
MATK		inserm.fr	GRCh37	19	3789344	3789344	+	start_lost	Translation_Start_Site	SNP	A	T	T			CHC1600T																					ENST00000395045.2:c.2T>A	p.Met1?	p.M1?	ENST00000395045	NM_002378.3	1	aTg/aAg	0	not done			
SFRP4		inserm.fr	GRCh37	7	37947148	37947148	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T									Valid												ENST00000436072.2:c.974C>A	p.Pro325Gln	p.P325Q	ENST00000436072	NM_003014.3	325	cCa/cAa	0	validated		probablydamaging	
B4GALNT4		inserm.fr	GRCh37	11	379985	379985	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC306T									Valid												ENST00000329962.6:c.2608G>T	p.Val870Leu	p.V870L	ENST00000329962	NM_178537.4	870	Gtg/Ttg	0	validated		benign	
CREBBP		inserm.fr	GRCh37	16	3801787	3801787	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1744T																					ENST00000262367.5:c.3719G>A	p.Cys1240Tyr	p.C1240Y	ENST00000262367	NM_004380.2	1240	tGt/tAt	0	not done		probablydamaging	
PLCD1		inserm.fr	GRCh37	3	38051462	38051462	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC155T																					ENST00000463876.1:c.1283C>A	p.Ala428Asp	p.A428D	ENST00000463876	NM_001130964.1	428	gCc/gAc	0	validated		benign	
FOXA1		inserm.fr	GRCh37	14	38060629	38060629	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC303T																					ENST00000250448.2:c.1360G>A	p.Ala454Thr	p.A454T	ENST00000250448	NM_004496.3	454	Gcc/Acc	0	validated		probablydamaging	
GSDMB		inserm.fr	GRCh37	17	38073373	38073373	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000418519.1:c.197G>A	p.Gly66Glu	p.G66E	ENST00000418519	NM_001165958.1	66	gGg/gAg	0	not done		probablydamaging	
RSPO1		inserm.fr	GRCh37	1	38082276	38082276	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC097T																					ENST00000356545.2:c.166T>A	p.Cys56Ser	p.C56S	ENST00000356545	NM_001038633.3	56	Tgc/Agc	0	not done		probablydamaging	
SIM2		inserm.fr	GRCh37	21	38084871	38084871	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000290399.6:c.297C>T	p.Gly99=	p.G99=	ENST00000290399	NM_005069.3	99	ggC/ggT	0	not done		synonymous	
TRIOBP		inserm.fr	GRCh37	22	38119492	38119492	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000406386.3:c.929C>T	p.Ser310Phe	p.S310F	ENST00000406386	NM_001039141.2	310	tCc/tTc	0	not done		possiblydamaging	
GSDMA		inserm.fr	GRCh37	17	38131157	38131157	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1704T																					ENST00000301659.4:c.911A>T	p.Glu304Val	p.E304V	ENST00000301659	NM_178171.4	304	gAa/gTa	0	not done		probablydamaging	
GSDMA		inserm.fr	GRCh37	17	38133221	38133221	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000301659.4:c.1248C>T	p.Pro416=	p.P416=	ENST00000301659	NM_178171.4	416	ccC/ccT	0	not done		synonymous	
DLEC1		inserm.fr	GRCh37	3	38138068	38138068	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC307T																					ENST00000308059.6:c.2180C>T	p.Ala727Val	p.A727V	ENST00000308059		727	gCg/gTg	0	validated		benign	
DLGAP1		inserm.fr	GRCh37	18	3814220	3814220	+	synonymous_variant	Silent	SNP	A	T	T			CHC1028T																					ENST00000315677.3:c.1011T>A	p.Ile337=	p.I337=	ENST00000315677	NM_004746.3	337	atT/atA	0	not done		synonymous	
RPGR		inserm.fr	GRCh37	X	38144893	38144893	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM399T									Valid												ENST00000378505.2:c.3359C>A	p.Ser1120Tyr	p.S1120Y	ENST00000378505	NM_001034853.1	1120	tCc/tAc	0	validated		possiblydamaging	
RPGR		inserm.fr	GRCh37	X	38146230	38146230	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000378505.2:c.2022G>A	p.Arg674=	p.R674=	ENST00000378505	NM_001034853.1	674	agG/agA	0	not done		synonymous	
TRIOBP		inserm.fr	GRCh37	22	38153645	38153645	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1531T																					ENST00000406386.3:c.5713G>T	p.Ala1905Ser	p.A1905S	ENST00000406386	NM_001039141.2	1905	Gcg/Tcg	0	not done		benign	
POSTN		inserm.fr	GRCh37	13	38160301	38160301	+	synonymous_variant	Silent	SNP	G	T	T			CHC429T																					ENST00000379747.4:c.870C>A	p.Ile290=	p.I290=	ENST00000379747	NM_006475.2	290	atC/atA	0	validated		synonymous	
ZNF781		inserm.fr	GRCh37	19	38160359	38160359	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000358582.4:c.691G>A	p.Val231Ile	p.V231I	ENST00000358582	NM_152605.3	231	Gta/Ata	0	not done		possiblydamaging	
ZFR2		inserm.fr	GRCh37	19	3816746	3816746	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC898T																					ENST00000262961.4:c.2029G>A	p.Ala677Thr	p.A677T	ENST00000262961	NM_015174.1	677	Gct/Act	0	not done		benign	
POSTN		inserm.fr	GRCh37	13	38172803	38172803	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1534T																					ENST00000379747.4:c.61G>A	p.Ala21Thr	p.A21T	ENST00000379747	NM_006475.2	21	Gcc/Acc	0	validated		benign	
WHSC1L1		inserm.fr	GRCh37	8	38176425	38176425	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000317025.8:c.1843G>A	p.Gly615Arg	p.G615R	ENST00000317025	NM_023034.1	615	Gga/Aga	0	not done		probablydamaging	
MED24		inserm.fr	GRCh37	17	38178695	38178695	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000394128.2:c.2475G>A	p.Lys825=	p.K825=	ENST00000394128	NM_014815.3	825	aaG/aaA	0	not done		synonymous	
MYD88		inserm.fr	GRCh37	3	38181462	38181462	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2103T																					ENST00000396334.3:c.475G>T	p.Gly159Cys	p.G159C	ENST00000396334	NM_002468.4	159	Ggc/Tgc	0	not done		probablydamaging	
TRPC4		inserm.fr	GRCh37	13	38211070	38211070	+	synonymous_variant	Silent	SNP	G	T	T			CHC320T																					ENST00000379681.3:c.2919C>A	p.Thr973=	p.T973=	ENST00000379681	NM_001135955.1	973	acC/acA	0	validated		synonymous	
RMDN2		inserm.fr	GRCh37	2	38218428	38218428	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1207T																					ENST00000234195.3:c.1467A>T	p.Arg489Ser	p.R489S	ENST00000234195	NM_144713.3	489	agA/agT	0	not done		possiblydamaging	
TMCO5A		inserm.fr	GRCh37	15	38229104	38229104	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2358T																					ENST00000319669.4:c.197A>T	p.Lys66Met	p.K66M	ENST00000319669	NM_152453.2	66	aAg/aTg	0	validated		probablydamaging	
ZFR2		inserm.fr	GRCh37	19	3823385	3823385	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000262961.4:c.1230G>A	p.Gln410=	p.Q410=	ENST00000262961	NM_015174.1	410	caG/caA	0	not done		synonymous	
THRA		inserm.fr	GRCh37	17	38244681	38244681	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC304T									Valid												ENST00000264637.4:c.910A>T	p.Lys304Ter	p.K304*	ENST00000264637	NM_003250.5	304	Aag/Tag	0	validated		damaging	
MANEAL		inserm.fr	GRCh37	1	38260338	38260338	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC896T																					ENST00000373045.6:c.484C>T	p.Pro162Ser	p.P162S	ENST00000373045	NM_001113482.1	162	Ccc/Tcc	0	not done		benign	
ZNF573		inserm.fr	GRCh37	19	38262213	38262213	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000590414.2:c.193G>A	p.Val65Ile	p.V65I	ENST00000590414		65	Gta/Ata	0	not done		probablydamaging	
EIF3L		inserm.fr	GRCh37	22	38273869	38273869	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000412331.2:c.1266G>T	p.Ser422=	p.S422=	ENST00000412331	NM_016091.3	422	tcG/tcT	0	validated		synonymous	
FGFR1		inserm.fr	GRCh37	8	38283672	38283672	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000425967.3:c.806G>A	p.Ser269Asn	p.S269N	ENST00000425967	NM_001174067.1	269	aGc/aAc	0	not done		possiblydamaging	
HLCS		inserm.fr	GRCh37	21	38302559	38302559	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000399120.1:c.1171G>A	p.Ala391Thr	p.A391T	ENST00000399120	NM_001242784.1	391	Gct/Act	0	not done		benign	
TARP		inserm.fr	GRCh37	7	38304964	38304964	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC884T									Valid												ENST00000443402.2:c.316C>A	p.Pro106His	p.P106H	ENST00000443402	NM_001003806.1	106	cCt/cAt	0	validated		probablydamaging	
MICALL1		inserm.fr	GRCh37	22	38321994	38321994	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000215957.6:c.1409G>T	p.Ser470Ile	p.S470I	ENST00000215957	NM_033386.3	470	aGc/aTc	0	not done		probablydamaging	
ZNF33A		inserm.fr	GRCh37	10	38344510	38344510	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1061T									Valid												ENST00000374618.3:c.1458G>T	p.Gln486His	p.Q486H	ENST00000374618	NM_001278178.1	486	caG/caT	0	validated		probablydamaging	
EGFLAM		inserm.fr	GRCh37	5	38350681	38350681	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000354891.3:c.370C>T	p.Arg124Trp	p.R124W	ENST00000354891	NM_001205301.1	124	Cgg/Tgg	0	not done		possiblydamaging	
INPP5B		inserm.fr	GRCh37	1	38353959	38353959	+	synonymous_variant	Silent	SNP	C	T	T			CHC2208T																					ENST00000373024.3:c.855G>A	p.Leu285=	p.L285=	ENST00000373024		285	ctG/ctA	0	not done		synonymous	
LINC03042		inserm.fr	GRCh37	8	38369941	38369941	+	synonymous_variant	Silent	SNP	A	T	T			CHC2048T																					ENST00000358138.1:c.636T>A	p.Ser212=	p.S212=	ENST00000358138	NM_207412.1	212	tcT/tcA	0	not done		synonymous	
WDR87		inserm.fr	GRCh37	19	38382196	38382196	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000303868.5:c.3273G>A	p.Lys1091=	p.K1091=	ENST00000303868	NM_031951.3	1091	aaG/aaA	0	not done		synonymous	
INPP5B		inserm.fr	GRCh37	1	38397690	38397690	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC302T									Valid												ENST00000373024.3:c.427T>A	p.Trp143Arg	p.W143R	ENST00000373024		143	Tgg/Agg	0	validated		possiblydamaging	
ZNF37A		inserm.fr	GRCh37	10	38403683	38403683	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	T	T			CHC1594T																					ENST00000361085.5:c.16G>T	p.Gly6Ter	p.G6*	ENST00000361085	NM_001178101.1	6	Gga/Tga	0	not done		damaging	
XYLB		inserm.fr	GRCh37	3	38416685	38416685	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1738T																					ENST00000207870.3:c.939G>T	p.Met313Ile	p.M313I	ENST00000207870	NM_005108.3	313	atG/atT	0	not done		benign	
MAVS		inserm.fr	GRCh37	20	3842132	3842132	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1085T																					ENST00000428216.2:c.446C>T	p.Ala149Val	p.A149V	ENST00000428216	NM_020746.4	149	gCg/gTg	0	validated		benign	
AMPH		inserm.fr	GRCh37	7	38424437	38424437	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1044T																					ENST00000356264.2:c.2070C>A	p.Phe690Leu	p.F690L	ENST00000356264	NM_001635.3	690	ttC/ttA	0	not done		probablydamaging	
EGFLAM		inserm.fr	GRCh37	5	38431330	38431330	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000354891.3:c.2106C>T	p.Arg702=	p.R702=	ENST00000354891	NM_001205301.1	702	cgC/cgT	0	not done		synonymous	
EGFLAM		inserm.fr	GRCh37	5	38448403	38448403	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC1600T																					ENST00000354891.3:c.2489C>T	p.Thr830Met	p.T830M	ENST00000354891	NM_001205301.1	830	aCg/aTg	0	not done		possiblydamaging	
SF3A3		inserm.fr	GRCh37	1	38449882	38449882	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC429T									Valid												ENST00000373019.4:c.427C>A	p.His143Asn	p.H143N	ENST00000373019	NM_006802.2	143	Cat/Aat	0	validated		probablydamaging	
PGAP2		inserm.fr	GRCh37	11	3845620	3845620	+	intron_variant	Intron	SNP	C	T	T			CHC2029T																					ENST00000278243.4:c.708+14C>T		*236*	ENST00000278243	NM_014489.3			0	not done			
SLC16A8		inserm.fr	GRCh37	22	38474572	38474572	+	synonymous_variant	Silent	SNP	G	T	T			CHC2206T																					ENST00000320521.5:c.1338C>A	p.Gly446=	p.G446=	ENST00000320521	NM_013356.2	446	ggC/ggA	0	not done		synonymous	
LIFR		inserm.fr	GRCh37	5	38499633	38499633	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2216T																					ENST00000263409.4:c.1653T>A	p.Asn551Lys	p.N551K	ENST00000263409	NM_002310.5	551	aaT/aaA	0	not done		benign	
LIFR		inserm.fr	GRCh37	5	38499661	38499661	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1719T																					ENST00000263409.4:c.1625G>A	p.Trp542Ter	p.W542*	ENST00000263409	NM_002310.5	542	tGg/tAg	0	not done		damaging	
BAIAP2L2		inserm.fr	GRCh37	22	38503859	38503859	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000381669.3:c.276G>A	p.Val92=	p.V92=	ENST00000381669	NM_025045.4	92	gtG/gtA	0	not done		damaging	
POU3F1		inserm.fr	GRCh37	1	38512240	38512240	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM321T																					ENST00000373012.2:c.176G>A	p.Gly59Asp	p.G59D	ENST00000373012	NM_002699.3	59	gGc/gAc	0	validated		probablydamaging	
CSMD1		inserm.fr	GRCh37	8	3855471	3855471	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000537824.1:c.772G>A	p.Gly258Arg	p.G258R	ENST00000537824	NM_033225.5	258	Gga/Aga	0	not done		possiblydamaging	
SIPA1L3		inserm.fr	GRCh37	19	38573567	38573567	+	synonymous_variant	Silent	SNP	C	T	T			CHC1741T																					ENST00000222345.6:c.1362C>T	p.Ser454=	p.S454=	ENST00000222345	NM_015073.1	454	agC/agT	0	not done		synonymous	
SIPA1L3		inserm.fr	GRCh37	19	38590759	38590759	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC303T									Valid												ENST00000222345.6:c.1823C>T	p.Thr608Met	p.T608M	ENST00000222345	NM_015073.1	608	aCg/aTg	0	validated		probablydamaging	
TMEM184B		inserm.fr	GRCh37	22	38622834	38622834	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361906.3:c.569G>A	p.Ser190Asn	p.S190N	ENST00000361906	NM_001195072.1	190	aGc/aAc	0	not done		benign	
TNS4		inserm.fr	GRCh37	17	38640735	38640735	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC1028T																					ENST00000254051.6:c.1501+1G>A		p.X501_splice	ENST00000254051	NM_032865.5			0	not done		possiblydamaging	
TMEM184B		inserm.fr	GRCh37	22	38642010	38642010	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2115T																					ENST00000361906.3:c.289C>A	p.Leu97Ile	p.L97I	ENST00000361906	NM_001195072.1	97	Ctc/Atc	0	validated		possiblydamaging	
TNS4		inserm.fr	GRCh37	17	38644912	38644912	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1083T																					ENST00000254051.6:c.749T>A	p.Leu250Gln	p.L250Q	ENST00000254051	NM_032865.5	250	cTg/cAg	0	validated		probablydamaging	
CSNK1E		inserm.fr	GRCh37	22	38694899	38694899	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000396832.1:c.777G>A	p.Arg259=	p.R259=	ENST00000396832	NM_152221.2	259	cgG/cgA	0	not done		synonymous	
CSNK1E		inserm.fr	GRCh37	22	38694910	38694910	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC197T									Valid												ENST00000396832.1:c.766C>A	p.Arg256Ser	p.R256S	ENST00000396832	NM_152221.2	256	Cgc/Agc	0	validated		probablydamaging	
CSNK1E		inserm.fr	GRCh37	22	38696871	38696871	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000396832.1:c.423G>A	p.Lys141=	p.K141=	ENST00000396832	NM_152221.2	141	aaG/aaA	0	not done		synonymous	
DNAH8		inserm.fr	GRCh37	6	38705713	38705713	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCB109T									Valid												ENST00000359357.3:c.430G>T	p.Glu144Ter	p.E144*	ENST00000359357		144	Gaa/Taa	0	validated		damaging	
SCN10A		inserm.fr	GRCh37	3	38739729	38739729	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T									Valid												ENST00000449082.2:c.4982C>A	p.Ala1661Asp	p.A1661D	ENST00000449082	NM_006514.2	1661	gCc/gAc	0	validated		probablydamaging	
SCN10A		inserm.fr	GRCh37	3	38739764	38739764	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000449082.2:c.4947C>A	p.Asn1649Lys	p.N1649K	ENST00000449082	NM_006514.2	1649	aaC/aaA	0	not done		probablydamaging	
SCN10A		inserm.fr	GRCh37	3	38739895	38739895	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000449082.2:c.4816G>A	p.Ala1606Thr	p.A1606T	ENST00000449082	NM_006514.2	1606	Gcc/Acc	0	not done		probablydamaging	
TLR10		inserm.fr	GRCh37	4	38776404	38776404	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM529T																					ENST00000308973.4:c.808T>A	p.Ser270Thr	p.S270T	ENST00000308973	NM_030956.3	270	Tca/Aca	0	validated		benign	
FAM98B		inserm.fr	GRCh37	15	38776481	38776481	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC891T																					ENST00000397609.2:c.923G>T	p.Arg308Met	p.R308M	ENST00000397609	NM_173611.2	308	aGg/aTg	0	validated		probablydamaging	
RASGRP1		inserm.fr	GRCh37	15	38786710	38786710	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000310803.5:c.2132C>A	p.Ser711Tyr	p.S711Y	ENST00000310803	NM_005739.3	711	tCt/tAt	0	not done		probablydamaging	
SCN10A		inserm.fr	GRCh37	3	38793961	38793961	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC798T																					ENST00000449082.2:c.1504G>A	p.Gly502Ser	p.G502S	ENST00000449082	NM_006514.2	502	Ggc/Agc	0	validated		benign	
DNAH8		inserm.fr	GRCh37	6	38800173	38800173	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1591T																					ENST00000359357.3:c.3613C>T	p.Arg1205Cys	p.R1205C	ENST00000359357		1205	Cgt/Tgt	0	not done		benign	
KRT222		inserm.fr	GRCh37	17	38816424	38816424	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000394052.3:c.261G>A	p.Glu87=	p.E87=	ENST00000394052	NM_152349.2	87	gaG/gaA	0	not done		synonymous	
TLR6		inserm.fr	GRCh37	4	38829758	38829758	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1082T																					ENST00000436693.2:c.1337G>A	p.Arg446Lys	p.R446K	ENST00000436693	NM_006068.4	446	aGa/aAa	0	validated		benign	
DYRK1A		inserm.fr	GRCh37	21	38845143	38845143	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1741T																					ENST00000398960.2:c.168A>T	p.Leu56Phe	p.L56F	ENST00000398960	NM_001396.3	56	ttA/ttT	0	not done		probablydamaging	
VPS41		inserm.fr	GRCh37	7	38857424	38857424	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000310301.4:c.443G>A	p.Gly148Glu	p.G148E	ENST00000310301	NM_014396.3	148	gGg/gAg	0	not done		probablydamaging	
CATSPERG		inserm.fr	GRCh37	19	38857860	38857860	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000409235.3:c.2678C>T	p.Thr893Ile	p.T893I	ENST00000409235	NM_021185.4	893	aCc/aTc	0	not done		possiblydamaging	
PSMD8		inserm.fr	GRCh37	19	38865357	38865357	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1751T																					ENST00000215071.4:c.116C>T	p.Pro39Leu	p.P39L	ENST00000215071	NM_002812.4	39	cCc/cTc	0	not done		benign	
PSMD8		inserm.fr	GRCh37	19	38865449	38865449	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1207T																					ENST00000215071.4:c.208A>T	p.Asn70Tyr	p.N70Y	ENST00000215071	NM_002812.4	70	Aac/Tac	0	not done		possiblydamaging	
PSMD8		inserm.fr	GRCh37	19	38865578	38865578	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2351T																					ENST00000215071.4:c.337G>T	p.Gly113Trp	p.G113W	ENST00000215071	NM_002812.4	113	Ggg/Tgg	0	not done		probablydamaging	
DNAH8		inserm.fr	GRCh37	6	38874141	38874141	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T									Valid												ENST00000359357.3:c.8655G>T	p.Glu2885Asp	p.E2885D	ENST00000359357		2885	gaG/gaT	0	validated		possiblydamaging	
GGN		inserm.fr	GRCh37	19	38877228	38877228	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000334928.6:c.674G>A	p.Gly225Asp	p.G225D	ENST00000334928	NM_152657.3	225	gGc/gAc	0	not done		possiblydamaging	
DNAH8		inserm.fr	GRCh37	6	38877473	38877473	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000359357.3:c.9042C>T	p.Gly3014=	p.G3014=	ENST00000359357		3014	ggC/ggT	0	not done		synonymous	
DYRK1A		inserm.fr	GRCh37	21	38877884	38877884	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1010T																					ENST00000398960.2:c.1538C>T	p.Ser513Leu	p.S513L	ENST00000398960	NM_001396.3	513	tCa/tTa	0	not done		possiblydamaging	
DNAH8		inserm.fr	GRCh37	6	38885848	38885848	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM759T									Valid												ENST00000359357.3:c.9805G>T	p.Gly3269Cys	p.G3269C	ENST00000359357		3269	Ggt/Tgt	0	validated		probablydamaging	
SPRED3		inserm.fr	GRCh37	19	38886734	38886734	+	synonymous_variant	Silent	SNP	G	T	T			CHC2134T																					ENST00000338502.4:c.1182G>T	p.Ala394=	p.A394=	ENST00000338502	NM_001042522.2	394	gcG/gcT	0	validated		synonymous	
CSMD1		inserm.fr	GRCh37	8	3889480	3889480	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1720T																					ENST00000537824.1:c.557T>A	p.Ile186Asn	p.I186N	ENST00000537824	NM_033225.5	186	aTc/aAc	0	not done		probablydamaging	
KRT26		inserm.fr	GRCh37	17	38923869	38923869	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1738T																					ENST00000335552.4:c.1224C>A	p.Tyr408Ter	p.Y408*	ENST00000335552	NM_181539.4	408	taC/taA	0	not done		damaging	
SCN11A		inserm.fr	GRCh37	3	38936239	38936239	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB231T																					ENST00000302328.3:c.2620G>A	p.Ala874Thr	p.A874T	ENST00000302328	NM_014139.2	874	Gct/Act	0	validated		probablydamaging	
RYR1		inserm.fr	GRCh37	19	38937335	38937335	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000359596.3:c.727C>T	p.Leu243Phe	p.L243F	ENST00000359596		243	Ctt/Ttt	0	validated		probablydamaging	
SCN11A		inserm.fr	GRCh37	3	38938498	38938498	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000302328.3:c.2241G>A	p.Arg747=	p.R747=	ENST00000302328	NM_014139.2	747	cgG/cgA	0	not done		synonymous	
SCN11A		inserm.fr	GRCh37	3	38941470	38941470	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000302328.3:c.1937G>A	p.Ser646Asn	p.S646N	ENST00000302328	NM_014139.2	646	aGc/aAc	0	not done		probablydamaging	
RYR1		inserm.fr	GRCh37	19	38949932	38949932	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000359596.3:c.2314C>T	p.Leu772=	p.L772=	ENST00000359596		772	Ctg/Ttg	0	not done		synonymous	
RYR1		inserm.fr	GRCh37	19	38951100	38951100	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB167T																					ENST00000359596.3:c.2446C>T	p.Pro816Ser	p.P816S	ENST00000359596		816	Cct/Tct	0	validated		probablydamaging	
RYR1		inserm.fr	GRCh37	19	38959751	38959751	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1736T																					ENST00000359596.3:c.3527C>T	p.Thr1176Ile	p.T1176I	ENST00000359596		1176	aCa/aTa	0	not done		benign	
RYR1		inserm.fr	GRCh37	19	38964332	38964332	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000359596.3:c.4081C>T	p.Pro1361Ser	p.P1361S	ENST00000359596		1361	Ccg/Tcg	0	not done		benign	
RYR1		inserm.fr	GRCh37	19	38976274	38976274	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000359596.3:c.4979G>T	p.Arg1660Leu	p.R1660L	ENST00000359596		1660	cGc/cTc	0	not done		possiblydamaging	
KRT10		inserm.fr	GRCh37	17	38976334	38976334	+	synonymous_variant	Silent	SNP	A	T	T			CHC2098T																					ENST00000269576.5:c.1122T>A	p.Ala374=	p.A374=	ENST00000269576	NM_000421.3	374	gcT/gcA	0	validated		synonymous	
RYR1		inserm.fr	GRCh37	19	38976508	38976508	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000359596.3:c.5213C>T	p.Thr1738Met	p.T1738M	ENST00000359596		1738	aCg/aTg	0	not done		probablydamaging	
RYR1		inserm.fr	GRCh37	19	38980906	38980906	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000359596.3:c.6005C>T	p.Pro2002Leu	p.P2002L	ENST00000359596		2002	cCc/cTc	0	not done		possiblydamaging	
RYR1		inserm.fr	GRCh37	19	38983181	38983181	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000359596.3:c.6179G>T	p.Gly2060Val	p.G2060V	ENST00000359596		2060	gGc/gTc	0	not done		benign	
RYR1		inserm.fr	GRCh37	19	38984992	38984992	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC912T																					ENST00000359596.3:c.6275G>T	p.Arg2092Leu	p.R2092L	ENST00000359596		2092	cGg/cTg	0	validated		damaging	
KRT10-AS1		inserm.fr	GRCh37	17	38990919	38990919	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC917T																					ENST00000301665.3:c.151C>T	p.Leu51Phe	p.L51F	ENST00000301665	NM_145274.3	51	Ctt/Ttt	0	validated		possiblydamaging	
RICTOR		inserm.fr	GRCh37	5	38991085	38991085	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC805T																					ENST00000357387.3:c.549G>A	p.Met183Ile	p.M183I	ENST00000357387	NM_152756.3	183	atG/atA	0	not done		possiblydamaging	
RYR1		inserm.fr	GRCh37	19	38993241	38993241	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1595T																					ENST00000359596.3:c.7709C>T	p.Ala2570Val	p.A2570V	ENST00000359596		2570	gCg/gTg	0	validated		benign	
RYR1		inserm.fr	GRCh37	19	38997545	38997545	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000359596.3:c.8769C>T	p.Ala2923=	p.A2923=	ENST00000359596		2923	gcC/gcT	0	not done		synonymous	
CREBBP		inserm.fr	GRCh37	16	3900415	3900415	+	synonymous_variant	Silent	SNP	A	T	T			CHC2351T																					ENST00000262367.5:c.681T>A	p.Pro227=	p.P227=	ENST00000262367	NM_004380.2	227	ccT/ccA	0	not done		synonymous	
RYR1		inserm.fr	GRCh37	19	39006847	39006847	+	synonymous_variant	Silent	SNP	G	T	T			CHC197T																					ENST00000359596.3:c.9675G>T	p.Arg3225=	p.R3225=	ENST00000359596		3225	cgG/cgT	0	validated		synonymous	
RYR1		inserm.fr	GRCh37	19	39008258	39008258	+	synonymous_variant	Silent	SNP	G	T	T			CHC301T																					ENST00000359596.3:c.9945G>T	p.Leu3315=	p.L3315=	ENST00000359596		3315	ctG/ctT	0	validated		synonymous	
RYR1		inserm.fr	GRCh37	19	39026014	39026014	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM269T																					ENST00000359596.3:c.11498C>T	p.Ala3833Val	p.A3833V	ENST00000359596		3833	gCa/gTa	0	validated		benign	
GLP1R		inserm.fr	GRCh37	6	39034016	39034016	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1191T																					ENST00000373256.4:c.446C>T	p.Thr149Met	p.T149M	ENST00000373256	NM_002062.3	149	aCg/aTg	0	not done		probablydamaging	
GLP1R		inserm.fr	GRCh37	6	39034065	39034065	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000373256.4:c.495C>T	p.Ile165=	p.I165=	ENST00000373256	NM_002062.3	165	atC/atT	0	not done		synonymous	
RYR1		inserm.fr	GRCh37	19	39055733	39055733	+	synonymous_variant	Silent	SNP	C	T	T			CHC1592T																					ENST00000359596.3:c.12759C>T	p.Pro4253=	p.P4253=	ENST00000359596		4253	ccC/ccT	0	not done		synonymous	
RYR1		inserm.fr	GRCh37	19	39068621	39068621	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000359596.3:c.14236C>T	p.Leu4746=	p.L4746=	ENST00000359596		4746	Ctg/Ttg	0	not done		synonymous	
DHX57		inserm.fr	GRCh37	2	39085901	39085901	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1616T																					ENST00000295373.6:c.1489G>A	p.Val497Met	p.V497M	ENST00000295373	NM_198963.1	497	Gtg/Atg	0	not done		probablydamaging	
WDR48		inserm.fr	GRCh37	3	39116290	39116290	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC892T																					ENST00000302313.5:c.746G>T	p.Arg249Leu	p.R249L	ENST00000302313	NM_020839.2	249	cGa/cTa	0	not done		possiblydamaging	
SUN2		inserm.fr	GRCh37	22	39146315	39146315	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1207T																					ENST00000405018.1:c.498T>A	p.Asp166Glu	p.D166E	ENST00000405018	NM_001199579.1	166	gaT/gaA	0	not done		benign	
TTC21A		inserm.fr	GRCh37	3	39151590	39151590	+	synonymous_variant	Silent	SNP	C	T	T			CHC1594T																					ENST00000431162.2:c.228C>T	p.Thr76=	p.T76=	ENST00000431162		76	acC/acT	0	not done		synonymous	
ARHGEF33		inserm.fr	GRCh37	2	39187147	39187147	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000601251.1:c.337C>A	p.Arg113Ser	p.R113S	ENST00000601251		113	Cgc/Agc	0	not done		synonymous	
FYB		inserm.fr	GRCh37	5	39202156	39202156	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000540520.1:c.937G>A	p.Glu313Lys	p.E313K	ENST00000540520	NM_001243093.1	313	Gag/Aag	0	validated		probablydamaging	
NPTXR		inserm.fr	GRCh37	22	39222573	39222573	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000333039.2:c.1030G>A	p.Gly344Arg	p.G344R	ENST00000333039	NM_014293.3	344	Ggg/Agg	0	not done		probablydamaging	
XIRP1		inserm.fr	GRCh37	3	39225763	39225763	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB301T																					ENST00000340369.3:c.5174C>A	p.Thr1725Asn	p.T1725N	ENST00000340369	NM_194293.2	1725	aCc/aAc	0	validated		benign	
KRTAP4-7		inserm.fr	GRCh37	17	39240795	39240795	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC799T																					ENST00000391417.4:c.337A>T	p.Ser113Cys	p.S113C	ENST00000391417	NM_033061.3	113	Agc/Tgc	0	not done		benign	
POU6F2		inserm.fr	GRCh37	7	39247072	39247072	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC805T																					ENST00000403058.1:c.364C>T	p.Leu122Phe	p.L122F	ENST00000403058	NM_001166018.1	122	Ctc/Ttc	0	not done		probablydamaging	
POU6F2		inserm.fr	GRCh37	7	39247090	39247090	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2052T																					ENST00000403058.1:c.382G>T	p.Ala128Ser	p.A128S	ENST00000403058	NM_001166018.1	128	Gcg/Tcg	0	not done		possiblydamaging	
KRTAP4-9		inserm.fr	GRCh37	17	39262103	39262103	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1719T																					ENST00000391415.1:c.463A>T	p.Ser155Cys	p.S155C	ENST00000391415	NM_001146041.1	155	Agc/Tgc	0	not done		benign	
CBX6		inserm.fr	GRCh37	22	39262976	39262976	+	synonymous_variant	Silent	SNP	G	T	T			CHC796T																					ENST00000407418.3:c.477C>A	p.Ile159=	p.I159=	ENST00000407418		159	atC/atA	0	validated		synonymous	
SOS1		inserm.fr	GRCh37	2	39278367	39278367	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000402219.2:c.782G>A	p.Gly261Asp	p.G261D	ENST00000402219	NM_005633.3	261	gGc/gAc	0	not done		probablydamaging	
KRTAP4-12		inserm.fr	GRCh37	17	39279812	39279812	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000394014.1:c.563C>A	p.Ser188Tyr	p.S188Y	ENST00000394014	NM_031854.2	188	tCc/tAc	0	not done		probablydamaging	
KCNK16		inserm.fr	GRCh37	6	39284170	39284170	+	intron_variant	Intron	SNP	G	T	T			CHC917T																					ENST00000425054.2:c.661+388C>A		*221*	ENST00000425054	NM_001135105.1			0	validated		benign	
KCNK16		inserm.fr	GRCh37	6	39290128	39290128	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000425054.2:c.189G>A	p.Gln63=	p.Q63=	ENST00000425054	NM_001135105.1	63	caG/caA	0	not done		synonymous	
KRTAP4-5		inserm.fr	GRCh37	17	39305528	39305528	+	synonymous_variant	Silent	SNP	G	T	T			BCM791T																					ENST00000343246.4:c.492C>A	p.Thr164=	p.T164=	ENST00000343246	NM_033188.3	164	acC/acA	0	validated		synonymous	
CX3CR1		inserm.fr	GRCh37	3	39307907	39307907	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM703T																					ENST00000358309.3:c.190G>A	p.Val64Met	p.V64M	ENST00000358309	NM_001171174.1	64	Gtg/Atg	0	validated		benign	
CX3CR1		inserm.fr	GRCh37	3	39323182	39323182	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2113T																					ENST00000358309.3:c.5G>A	p.Arg2Lys	p.R2K	ENST00000358309	NM_001171174.1	2	aGa/aAa	0	not done			
KRTAP9-1		inserm.fr	GRCh37	17	39346767	39346767	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM529T																					ENST00000398470.1:c.629A>T	p.Tyr210Phe	p.Y210F	ENST00000398470	NM_001190460.1	210	tAt/tTt	0	validated			
SOS1		inserm.fr	GRCh37	2	39347493	39347493	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1736T																					ENST00000402219.2:c.71T>A	p.Val24Glu	p.V24E	ENST00000402219	NM_005633.3	24	gTg/gAg	0	validated		probablydamaging	
RINL		inserm.fr	GRCh37	19	39364589	39364589	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000591812.1:c.250G>A	p.Val84Met	p.V84M	ENST00000591812		84	Gtg/Atg	0	validated			
APOBEC3B		inserm.fr	GRCh37	22	39382020	39382020	+	synonymous_variant	Silent	SNP	C	T	T			CHC1744T																					ENST00000333467.3:c.378C>T	p.Tyr126=	p.Y126=	ENST00000333467	NM_004900.4	126	taC/taT	0	validated		synonymous	
FREM2		inserm.fr	GRCh37	13	39422674	39422674	+	synonymous_variant	Silent	SNP	C	T	T			CHC794T																					ENST00000280481.7:c.6246C>T	p.Val2082=	p.V2082=	ENST00000280481	NM_207361.4	2082	gtC/gtT	0	validated		synonymous	
FREM2		inserm.fr	GRCh37	13	39438432	39438432	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2034T																					ENST00000280481.7:c.7672A>T	p.Thr2558Ser	p.T2558S	ENST00000280481	NM_207361.4	2558	Act/Tct	0	not done		probablydamaging	
KLB		inserm.fr	GRCh37	4	39439480	39439480	+	synonymous_variant	Silent	SNP	G	T	T			CHC1604T																					ENST00000257408.4:c.1470G>T	p.Arg490=	p.R490=	ENST00000257408	NM_175737.3	490	cgG/cgT	0	not done		synonymous	
APOBEC3F		inserm.fr	GRCh37	22	39440107	39440107	+	intron_variant	Intron	SNP	G	T	T			CHC1704T																					ENST00000308521.5:c.172-839G>T		*58*	ENST00000308521	NM_145298.5			0	not done			
FBXO17		inserm.fr	GRCh37	19	39440651	39440651	+	synonymous_variant	Silent	SNP	C	T	T			CHC1079T																					ENST00000292852.4:c.309G>A	p.Ala103=	p.A103=	ENST00000292852	NM_024907.6	103	gcG/gcA	0	not done		synonymous	
ADAM18		inserm.fr	GRCh37	8	39442816	39442816	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM759T																					ENST00000265707.5:c.77A>T	p.His26Leu	p.H26L	ENST00000265707	NM_014237.2	26	cAt/cTt	0	validated		probablydamaging	
KRTAP16-1		inserm.fr	GRCh37	17	39465253	39465253	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC896T																					ENST00000391352.1:c.253G>A	p.Val85Met	p.V85M	ENST00000391352	NM_001146182.1	85	Gtg/Atg	0	not done			
POU6F2		inserm.fr	GRCh37	7	39472734	39472734	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM567T																					ENST00000403058.1:c.1085G>T	p.Gly362Val	p.G362V	ENST00000403058	NM_001166018.1	362	gGc/gTc	0	validated		possiblydamaging	
ADAM18		inserm.fr	GRCh37	8	39486959	39486959	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC1154T																					ENST00000265707.5:c.588+1G>T		p.X196_splice	ENST00000265707	NM_014237.2			0	not done		possiblydamaging	
APOBEC3H		inserm.fr	GRCh37	22	39497384	39497384	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000401756.1:c.293C>T	p.Ala98Val	p.A98V	ENST00000401756	NM_001166003.1	98	gCt/gTt	0	not done		benign	
KRT33B		inserm.fr	GRCh37	17	39521181	39521181	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000251646.3:c.947G>A	p.Ser316Asn	p.S316N	ENST00000251646	NM_002279.4	316	aGc/aAc	0	not done		benign	
SEC23A		inserm.fr	GRCh37	14	39524497	39524497	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000307712.6:c.1509G>A	p.Trp503Ter	p.W503*	ENST00000307712	NM_006364.2	503	tgG/tgA	0	not done		damaging	
KRT33B		inserm.fr	GRCh37	17	39525988	39525988	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1061T																					ENST00000251646.3:c.15C>A	p.Phe5Leu	p.F5L	ENST00000251646	NM_002279.4	5	ttC/ttA	0	validated		benign	
PIK3C3		inserm.fr	GRCh37	18	39535301	39535301	+	synonymous_variant	Silent	SNP	G	T	T			BCM683T																					ENST00000262039.4:c.45G>T	p.Leu15=	p.L15=	ENST00000262039	NM_002647.2	15	ctG/ctT	0	validated		synonymous	
KRT34		inserm.fr	GRCh37	17	39535678	39535678	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2043T																					ENST00000394001.1:c.929G>A	p.Cys310Tyr	p.C310Y	ENST00000394001	NM_021013.3	310	tGc/tAc	0	not done		benign	
KRT37		inserm.fr	GRCh37	17	39577635	39577635	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1192T																					ENST00000225550.3:c.1225G>A	p.Glu409Lys	p.E409K	ENST00000225550	NM_003770.4	409	Gag/Aag	0	not done		probablydamaging	
KRT37		inserm.fr	GRCh37	17	39579096	39579096	+	synonymous_variant	Silent	SNP	G	T	T			CHC884T																					ENST00000225550.3:c.666C>A	p.Ala222=	p.A222=	ENST00000225550	NM_003770.4	222	gcC/gcA	0	validated		synonymous	
PAPL		inserm.fr	GRCh37	19	39590987	39590987	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC434T									Valid												ENST00000331256.5:c.626G>T	p.Arg209Leu	p.R209L	ENST00000331256	NM_001004318.2	209	cGc/cTc	0	validated		possiblydamaging	
GEMIN2		inserm.fr	GRCh37	14	39601236	39601236	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1741T																					ENST00000308317.6:c.708G>T	p.Gln236His	p.Q236H	ENST00000308317	NM_003616.2	236	caG/caT	0	not done		probablydamaging	
ZZEF1		inserm.fr	GRCh37	17	3961398	3961398	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000381638.2:c.5055G>A	p.Leu1685=	p.L1685=	ENST00000381638	NM_015113.3	1685	ttG/ttA	0	not done		synonymous	
AXIN1		inserm.fr	GRCh37	16	396147	396147	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T									Valid												ENST00000262320.3:c.878+1G>A		p.X293_splice	ENST00000262320	NM_003502.3			0	not done		damaging	
KRT32		inserm.fr	GRCh37	17	39623227	39623227	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000225899.3:c.351G>A	p.Leu117=	p.L117=	ENST00000225899	NM_002278.3	117	ctG/ctA	0	not done		synonymous	
AXIN1		inserm.fr	GRCh37	16	396328	396328	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T									Valid												ENST00000262320.3:c.698G>A	p.Gly233Asp	p.G233D	ENST00000262320	NM_003502.3	233	gGc/gAc	0	validated		benign	
KRT35		inserm.fr	GRCh37	17	39635731	39635731	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000393989.1:c.579G>A	p.Arg193=	p.R193=	ENST00000393989	NM_002280.4	193	cgG/cgA	0	not done		synonymous	
CHL1		inserm.fr	GRCh37	3	396370	396370	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC451T																					ENST00000256509.2:c.1081G>T	p.Gly361Ter	p.G361*	ENST00000256509	NM_001253388.1	361	Gga/Tga	0	validated		damaging	
ADAM2		inserm.fr	GRCh37	8	39644519	39644519	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265708.4:c.865G>A	p.Ala289Thr	p.A289T	ENST00000265708	NM_001464.4	289	Gca/Aca	0	not done		benign	
KRT36		inserm.fr	GRCh37	17	39645708	39645708	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1704T																					ENST00000328119.6:c.409T>A	p.Cys137Ser	p.C137S	ENST00000328119	NM_003771.4	137	Tgc/Agc	0	not done		benign	
PNN		inserm.fr	GRCh37	14	39649809	39649809	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000216832.4:c.896G>T	p.Arg299Leu	p.R299L	ENST00000216832	NM_002687.3	299	cGt/cTt	0	not done		probablydamaging	
KRT13		inserm.fr	GRCh37	17	39657970	39657970	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000246635.3:c.1270+1G>A		p.X424_splice	ENST00000246635	NM_153490.2			0	not done		damaging	
PAK4		inserm.fr	GRCh37	19	39663654	39663654	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB109T									Valid												ENST00000593690.1:c.301C>T	p.Arg101Trp	p.R101W	ENST00000593690	NM_001014831.2	101	Cgg/Tgg	0	validated		probablydamaging	
KRT15		inserm.fr	GRCh37	17	39670328	39670328	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000254043.3:c.1318G>A	p.Val440Ile	p.V440I	ENST00000254043	NM_002275.3	440	Gta/Ata	0	not done		benign	
KRT15		inserm.fr	GRCh37	17	39673065	39673065	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T									Valid												ENST00000254043.3:c.733G>A	p.Glu245Lys	p.E245K	ENST00000254043	NM_002275.3	245	Gaa/Aaa	0	validated		probablydamaging	
KRT19		inserm.fr	GRCh37	17	39681095	39681095	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000361566.3:c.660G>A	p.Glu220=	p.E220=	ENST00000361566	NM_002276.4	220	gaG/gaA	0	not done		damaging	
KRT19		inserm.fr	GRCh37	17	39684231	39684231	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361566.3:c.269G>A	p.Arg90His	p.R90H	ENST00000361566	NM_002276.4	90	cGc/cAc	0	not done		benign	
DAPK3		inserm.fr	GRCh37	19	3969675	3969675	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000545797.2:c.59G>A	p.Gly20Asp	p.G20D	ENST00000545797		20	gGc/gAc	0	not done		probablydamaging	
TOP1		inserm.fr	GRCh37	20	39728872	39728872	+	synonymous_variant	Silent	SNP	C	T	T			CHC1603T																					ENST00000361337.2:c.1152C>T	p.Ile384=	p.I384=	ENST00000361337	NM_003286.2	384	atC/atT	0	not done		synonymous	
KRT14		inserm.fr	GRCh37	17	39739363	39739363	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000167586.6:c.1304C>A	p.Ser435Ter	p.S435*	ENST00000167586	NM_000526.4	435	tCg/tAg	0	validated		damaging	
KIF21A		inserm.fr	GRCh37	12	39752001	39752001	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361418.5:c.1194G>A	p.Met398Ile	p.M398I	ENST00000361418		398	atG/atA	0	not done		benign	
IFNL2		inserm.fr	GRCh37	19	39760402	39760402	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000331982.5:c.445C>T	p.Pro149Ser	p.P149S	ENST00000331982	NM_172138.1	149	Ccc/Tcc	0	not done		benign	
MACF1		inserm.fr	GRCh37	1	39776516	39776516	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM439T																					ENST00000545844.1:c.3129G>T	p.Glu1043Asp	p.E1043D	ENST00000545844		1043	gaG/gaT	0	validated		probablydamaging	
PLCG1		inserm.fr	GRCh37	20	39794368	39794368	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000373272.2:c.1701C>T	p.Arg567=	p.R567=	ENST00000373272	NM_002660.2	567	cgC/cgT	0	validated		synonymous	
LRFN1		inserm.fr	GRCh37	19	39798495	39798495	+	synonymous_variant	Silent	SNP	C	T	T			CHC909T																					ENST00000248668.4:c.2094G>A	p.Pro698=	p.P698=	ENST00000248668	NM_020862.1	698	ccG/ccA	0	not done		synonymous	
LRFN1		inserm.fr	GRCh37	19	39798543	39798543	+	synonymous_variant	Silent	SNP	C	T	T			CHC314T																					ENST00000248668.4:c.2046G>A	p.Ser682=	p.S682=	ENST00000248668	NM_020862.1	682	tcG/tcA	0	validated		synonymous	
LRFN1		inserm.fr	GRCh37	19	39804633	39804633	+	synonymous_variant	Silent	SNP	C	T	T			CHC1754T																					ENST00000248668.4:c.1344G>A	p.Val448=	p.V448=	ENST00000248668	NM_020862.1	448	gtG/gtA	0	not done		synonymous	
LRFN1		inserm.fr	GRCh37	19	39805185	39805185	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000248668.4:c.792G>A	p.Arg264=	p.R264=	ENST00000248668	NM_020862.1	264	cgG/cgA	0	not done		synonymous	
LRFN1		inserm.fr	GRCh37	19	39805920	39805920	+	synonymous_variant	Silent	SNP	G	T	T			BCM257T																					ENST00000248668.4:c.57C>A	p.Pro19=	p.P19=	ENST00000248668	NM_020862.1	19	ccC/ccA	0	validated		synonymous	
LRFN1		inserm.fr	GRCh37	19	39805935	39805935	+	synonymous_variant	Silent	SNP	C	T	T			CHC2098T																					ENST00000248668.4:c.42G>A	p.Pro14=	p.P14=	ENST00000248668	NM_020862.1	14	ccG/ccA	0	validated		synonymous	
DAAM2		inserm.fr	GRCh37	6	39828720	39828720	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000398904.2:c.185C>T	p.Thr62Ile	p.T62I	ENST00000398904		62	aCt/aTt	0	not done		probablydamaging	
DAAM2		inserm.fr	GRCh37	6	39847033	39847033	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000398904.2:c.1625C>T	p.Pro542Leu	p.P542L	ENST00000398904		542	cCa/cTa	0	not done		possiblydamaging	
MACF1		inserm.fr	GRCh37	1	39877246	39877246	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC796T									Valid												ENST00000530275.1:c.901C>T	p.Gln301Ter	p.Q301*	ENST00000530275	NM_015038.1	301	Cag/Tag	0	validated		damaging	
THBS1		inserm.fr	GRCh37	15	39879628	39879628	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC2141T																					ENST00000260356.5:c.1201C>T	p.Gln401Ter	p.Q401*	ENST00000260356	NM_003246.2	401	Cag/Tag	0	not done		damaging	
HAP1		inserm.fr	GRCh37	17	39888622	39888622	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1591T																					ENST00000347901.4:c.574G>A	p.Val192Ile	p.V192I	ENST00000347901	NM_177977.2	192	Gtt/Att	0	not done		benign	
TMEM178A		inserm.fr	GRCh37	2	39893492	39893492	+	synonymous_variant	Silent	SNP	C	T	T			CHC1629T																					ENST00000281961.2:c.378C>T	p.Asp126=	p.D126=	ENST00000281961	NM_152390.2	126	gaC/gaT	0	not done		synonymous	
BCOR		inserm.fr	GRCh37	X	39909222	39909222	+	downstream_gene_variant	3'Flank	SNP	C	T	T			CHC892T																								ENST00000378444	NM_001123385.1			0	not done			
JUP		inserm.fr	GRCh37	17	39912032	39912032	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000393931.3:c.2202G>A	p.Arg734=	p.R734=	ENST00000393931	NM_002230.2	734	agG/agA	0	not done		synonymous	
ATF4		inserm.fr	GRCh37	22	39918192	39918192	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1734T																					ENST00000337304.2:c.641C>T	p.Pro214Leu	p.P214L	ENST00000337304	NM_001675.2	214	cCt/cTt	0	not done		benign	
JUP		inserm.fr	GRCh37	17	39919570	39919570	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000393931.3:c.1162G>A	p.Gly388Ser	p.G388S	ENST00000393931	NM_002230.2	388	Ggc/Agc	0	not done		possiblydamaging	
MACF1		inserm.fr	GRCh37	1	39924865	39924865	+	synonymous_variant	Silent	SNP	C	T	T			BCM483T																					ENST00000545844.1:c.15127C>T	p.Leu5043=	p.L5043=	ENST00000545844		5043	Ctg/Ttg	0	validated		synonymous	
JUP		inserm.fr	GRCh37	17	39925396	39925396	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000393931.3:c.532G>A	p.Ala178Thr	p.A178T	ENST00000393931	NM_002230.2	178	Gcc/Acc	0	not done		probablydamaging	
TMEM178A		inserm.fr	GRCh37	2	39931236	39931236	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB307T									Valid												ENST00000281961.2:c.416G>T	p.Cys139Phe	p.C139F	ENST00000281961	NM_152390.2	139	tGc/tTc	0	validated		probablydamaging	
BCOR		inserm.fr	GRCh37	X	39932183	39932183	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000378444.4:c.2416G>A	p.Val806Ile	p.V806I	ENST00000378444	NM_001123385.1	806	Gta/Ata	0	not done		benign	
BCOR		inserm.fr	GRCh37	X	39932767	39932767	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000378444.4:c.1832G>A	p.Ser611Asn	p.S611N	ENST00000378444	NM_001123385.1	611	aGc/aAc	0	not done		benign	
CACNA1I		inserm.fr	GRCh37	22	39966941	39966941	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000402142.3:c.184C>T	p.Leu62=	p.L62=	ENST00000402142	NM_021096.3	62	Ctg/Ttg	0	not done		synonymous	
TIMM50		inserm.fr	GRCh37	19	39976362	39976362	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC451T																					ENST00000314349.4:c.716C>T	p.Pro239Leu	p.P239L	ENST00000314349	NM_001001563.1	239	cCa/cTa	0	validated		probablydamaging	
EMILIN3		inserm.fr	GRCh37	20	39991065	39991065	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2113T																					ENST00000332312.3:c.1144G>A	p.Gly382Ser	p.G382S	ENST00000332312	NM_052846.1	382	Ggc/Agc	0	not done		benign	
CACNA1I		inserm.fr	GRCh37	22	39996641	39996641	+	synonymous_variant	Silent	SNP	C	T	T			CHC121T																					ENST00000402142.3:c.465C>T	p.Phe155=	p.F155=	ENST00000402142	NM_021096.3	155	ttC/ttT	0	validated		synonymous	
THUMPD2		inserm.fr	GRCh37	2	39997005	39997005	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000505747.1:c.517G>A	p.Glu173Lys	p.E173K	ENST00000505747	NM_025264.4	173	Gag/Aag	0	not done		benign	
SELV		inserm.fr	GRCh37	19	40005878	40005878	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000335426.4:c.26C>T	p.Ala9Val	p.A9V	ENST00000335426	NM_182704.1	9	gCc/gTc	0	not done		benign	
RBCK1		inserm.fr	GRCh37	20	400085	400085	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1751T																					ENST00000356286.5:c.555G>T	p.Gln185His	p.Q185H	ENST00000356286	NM_031229.2	185	caG/caT	0	validated		benign	
KLHL11		inserm.fr	GRCh37	17	40021447	40021447	+	synonymous_variant	Silent	SNP	C	T	T			CHC2115T																					ENST00000319121.3:c.177G>A	p.Ala59=	p.A59=	ENST00000319121	NM_018143.1	59	gcG/gcA	0	not done		synonymous	
PABPC4		inserm.fr	GRCh37	1	40029413	40029413	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372858.3:c.1541G>A	p.Gly514Asp	p.G514D	ENST00000372858	NM_001135653.1	514	gGc/gAc	0	not done		benign	
PABPC4		inserm.fr	GRCh37	1	40030778	40030778	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000372858.3:c.1245G>A	p.Gln415=	p.Q415=	ENST00000372858	NM_001135653.1	415	caG/caA	0	not done		damaging	
CHD6		inserm.fr	GRCh37	20	40033396	40033396	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000373233.3:c.7985G>A	p.Gly2662Glu	p.G2662E	ENST00000373233	NM_032221.4	2662	gGg/gAg	0	not done		benign	
PKP3		inserm.fr	GRCh37	11	400427	400427	+	synonymous_variant	Silent	SNP	G	T	T			CHC1746T																					ENST00000331563.2:c.1542G>T	p.Leu514=	p.L514=	ENST00000331563	NM_007183.2	514	ctG/ctT	0	validated		synonymous	
CACNA1I		inserm.fr	GRCh37	22	40045715	40045715	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB111T									Valid												ENST00000402142.3:c.1777G>T	p.Gly593Trp	p.G593W	ENST00000402142	NM_021096.3	593	Ggg/Tgg	0	validated		probablydamaging	
ACLY		inserm.fr	GRCh37	17	40055034	40055034	+	synonymous_variant	Silent	SNP	C	T	T			CHC1774T																					ENST00000352035.2:c.1188G>A	p.Lys396=	p.K396=	ENST00000352035	NM_001096.2	396	aaG/aaA	0	validated		synonymous	
CACNA1I		inserm.fr	GRCh37	22	40058183	40058183	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC909T																					ENST00000402142.3:c.3115C>T	p.His1039Tyr	p.H1039Y	ENST00000402142	NM_021096.3	1039	Cac/Tac	0	validated		probablydamaging	
CACNA1I		inserm.fr	GRCh37	22	40081863	40081863	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000402142.3:c.6125C>T	p.Pro2042Leu	p.P2042L	ENST00000402142	NM_021096.3	2042	cCc/cTc	0	not done		benign	
CHD6		inserm.fr	GRCh37	20	40113248	40113248	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000373233.3:c.2002-1G>A		p.X668_splice	ENST00000373233	NM_032221.4			0	not done		damaging	
CHD6		inserm.fr	GRCh37	20	40122184	40122184	+	synonymous_variant	Silent	SNP	C	T	T			CHC1754T																					ENST00000373233.3:c.1308G>A	p.Lys436=	p.K436=	ENST00000373233	NM_032221.4	436	aaG/aaA	0	not done		synonymous	
N4BP2		inserm.fr	GRCh37	4	40123573	40123573	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM325T																					ENST00000261435.6:c.3842C>T	p.Pro1281Leu	p.P1281L	ENST00000261435	NM_018177.4	1281	cCt/cTt	0	validated		benign	
LRRC4C		inserm.fr	GRCh37	11	40137110	40137110	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM545T																					ENST00000278198.2:c.733C>A	p.Leu245Ile	p.L245I	ENST00000278198		245	Ctt/Att	0	validated		probablydamaging	
NKIRAS2		inserm.fr	GRCh37	17	40174569	40174569	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1148T																					ENST00000307641.5:c.247G>T	p.Val83Phe	p.V83F	ENST00000307641	NM_001001349.2	83	Gtc/Ttc	0	not done		probablydamaging	
IRF4		inserm.fr	GRCh37	6	401764	401764	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC121T																					ENST00000380956.4:c.1086G>T	p.Gln362His	p.Q362H	ENST00000380956	NM_001195286.1	362	caG/caT	0	validated		benign	
RHOH		inserm.fr	GRCh37	4	40245526	40245526	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000381799.5:c.520G>T	p.Ala174Ser	p.A174S	ENST00000381799	NM_004310.4	174	Gcc/Tcc	0	not done		probablydamaging	
BMP8B		inserm.fr	GRCh37	1	40253873	40253873	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000372827.3:c.285G>A	p.Ala95=	p.A95=	ENST00000372827	NM_001720.3	95	gcG/gcA	0	not done		synonymous	
SDK1		inserm.fr	GRCh37	7	4026832	4026832	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000404826.2:c.2009C>T	p.Ser670Leu	p.S670L	ENST00000404826	NM_152744.3	670	tCa/tTa	0	not done		probablydamaging	
ADCY9		inserm.fr	GRCh37	16	4027611	4027611	+	synonymous_variant	Silent	SNP	C	T	T			CHC796T																					ENST00000294016.3:c.2700G>A	p.Ser900=	p.S900=	ENST00000294016	NM_001116.3	900	tcG/tcA	0	validated		synonymous	
TRIT1		inserm.fr	GRCh37	1	40315848	40315848	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000316891.5:c.646G>A	p.Gly216Arg	p.G216R	ENST00000316891	NM_017646.4	216	Gga/Aga	0	not done		probablydamaging	
DYRK1B		inserm.fr	GRCh37	19	40317319	40317319	+	synonymous_variant	Silent	SNP	G	T	T			CHC1041T																					ENST00000593685.1:c.1404C>A	p.Ser468=	p.S468=	ENST00000593685		468	tcC/tcA	0	validated		synonymous	
DYRK1B		inserm.fr	GRCh37	19	40319079	40319079	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2052T																					ENST00000593685.1:c.665G>A	p.Cys222Tyr	p.C222Y	ENST00000593685		222	tGc/tAc	0	not done		probablydamaging	
KCNH4		inserm.fr	GRCh37	17	40322292	40322292	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1028T																					ENST00000264661.3:c.1223T>A	p.Leu408Gln	p.L408Q	ENST00000264661	NM_012285.2	408	cTg/cAg	0	not done		possiblydamaging	
CHRNA9		inserm.fr	GRCh37	4	40351317	40351317	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000310169.2:c.784C>T	p.Pro262Ser	p.P262S	ENST00000310169	NM_017581.3	262	Cca/Tca	0	not done		probablydamaging	
FCGBP		inserm.fr	GRCh37	19	40366172	40366172	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC361TA																					ENST00000221347.6:c.14062G>A	p.Ala4688Thr	p.A4688T	ENST00000221347	NM_003890.2	4688	Gcg/Acg	0	validated		benign	
DIP2C		inserm.fr	GRCh37	10	403872	403872	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000280886.6:c.2800G>A	p.Gly934Ser	p.G934S	ENST00000280886	NM_014974.2	934	Ggc/Agc	0	not done		probablydamaging	
SLC8A1		inserm.fr	GRCh37	2	40397459	40397459	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2141T																					ENST00000403092.1:c.2000G>A	p.Arg667Lys	p.R667K	ENST00000403092		667	aGa/aAa	0	not done		benign	
LRFN2		inserm.fr	GRCh37	6	40399652	40399652	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000338305.6:c.1201G>A	p.Gly401Ser	p.G401S	ENST00000338305	NM_020737.1	401	Ggc/Agc	0	not done		benign	
SLC8A1		inserm.fr	GRCh37	2	40405552	40405552	+	synonymous_variant	Silent	SNP	G	T	T			CHC1725T																					ENST00000403092.1:c.1890C>A	p.Arg630=	p.R630=	ENST00000403092		630	cgC/cgA	0	not done		synonymous	
FCGBP		inserm.fr	GRCh37	19	40408120	40408120	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1592T																					ENST00000221347.6:c.4601C>A	p.Pro1534Gln	p.P1534Q	ENST00000221347	NM_003890.2	1534	cCg/cAg	0	not done		benign	
FCGBP		inserm.fr	GRCh37	19	40408796	40408796	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB167T																					ENST00000221347.6:c.4043G>A	p.Arg1348His	p.R1348H	ENST00000221347	NM_003890.2	1348	cGt/cAt	0	validated		benign	
FCGBP		inserm.fr	GRCh37	19	40421137	40421137	+	synonymous_variant	Silent	SNP	G	T	T			CHC1154T																					ENST00000221347.6:c.2784C>A	p.Arg928=	p.R928=	ENST00000221347	NM_003890.2	928	cgC/cgA	0	not done		synonymous	
RBM47		inserm.fr	GRCh37	4	40428017	40428017	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000381793.2:c.1686G>A	p.Ala562=	p.A562=	ENST00000381793		562	gcG/gcA	0	not done		synonymous	
FCGBP		inserm.fr	GRCh37	19	40433705	40433705	+	synonymous_variant	Silent	SNP	G	T	T			CHC1211T																					ENST00000221347.6:c.564C>A	p.Gly188=	p.G188=	ENST00000221347	NM_003890.2	188	ggC/ggA	0	not done		synonymous	
RBM47		inserm.fr	GRCh37	4	40440721	40440721	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000381793.2:c.190G>A	p.Gly64Ser	p.G64S	ENST00000381793		64	Ggc/Agc	0	not done		benign	
RBM47		inserm.fr	GRCh37	4	40440824	40440824	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000381793.2:c.87G>A	p.Ala29=	p.A29=	ENST00000381793		29	gcG/gcA	0	not done		synonymous	
RBM47		inserm.fr	GRCh37	4	40440853	40440853	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000381793.2:c.58G>A	p.Ala20Thr	p.A20T	ENST00000381793		20	Gcc/Acc	0	not done		benign	
STAT5A		inserm.fr	GRCh37	17	40441449	40441449	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000345506.4:c.20C>T	p.Ala7Val	p.A7V	ENST00000345506	NM_003152.3	7	gCc/gTc	0	not done		benign	
ENTPD3		inserm.fr	GRCh37	3	40453345	40453345	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000301825.3:c.329C>T	p.Pro110Leu	p.P110L	ENST00000301825	NM_001248.2	110	cCc/cTc	0	not done		benign	
STAT5A		inserm.fr	GRCh37	17	40461115	40461115	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	T	T			CHC1082T																					ENST00000345506.4:c.2113G>T	p.Glu705Ter	p.E705*	ENST00000345506	NM_003152.3	705	Gag/Tag	0	validated		damaging	
CHL1		inserm.fr	GRCh37	3	404925	404925	+	synonymous_variant	Silent	SNP	C	T	T			CHC433T																					ENST00000256509.2:c.1444C>T	p.Leu482=	p.L482=	ENST00000256509	NM_001253388.1	482	Ctg/Ttg	0	validated		synonymous	
RPL14		inserm.fr	GRCh37	3	40503124	40503124	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC879T																					ENST00000396203.2:c.326G>T	p.Arg109Leu	p.R109L	ENST00000396203	NM_001034996.2	109	cGt/cTt	0	not done		probablydamaging	
MED14		inserm.fr	GRCh37	X	40541112	40541112	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1741T																					ENST00000324817.1:c.2449G>A	p.Gly817Arg	p.G817R	ENST00000324817	NM_004229.3	817	Gga/Aga	0	not done		possiblydamaging	
ZMAT4		inserm.fr	GRCh37	8	40554791	40554791	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000297737.6:c.322G>A	p.Gly108Arg	p.G108R	ENST00000297737	NM_024645.2	108	Gga/Aga	0	not done		probablydamaging	
ZMAT4		inserm.fr	GRCh37	8	40554870	40554870	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1738T																					ENST00000297737.6:c.243C>A	p.Asn81Lys	p.N81K	ENST00000297737	NM_024645.2	81	aaC/aaA	0	not done		probablydamaging	
PSMG1		inserm.fr	GRCh37	21	40555271	40555271	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000331573.3:c.41G>A	p.Cys14Tyr	p.C14Y	ENST00000331573	NM_003720.3	14	tGc/tAc	0	not done		possiblydamaging	
MED14		inserm.fr	GRCh37	X	40556430	40556430	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000324817.1:c.1496G>A	p.Trp499Ter	p.W499*	ENST00000324817	NM_004229.3	499	tGg/tAg	0	not done		damaging	
PAK6		inserm.fr	GRCh37	15	40564600	40564600	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1742T																					ENST00000560346.1:c.1034G>T	p.Arg345Leu	p.R345L	ENST00000560346		345	cGg/cTg	0	not done		possiblydamaging	
ANKRD63		inserm.fr	GRCh37	15	40574427	40574427	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000434396.1:c.361G>A	p.Val121Met	p.V121M	ENST00000434396	NM_001190479.1	121	Gtg/Atg	0	not done			
C15orf52		inserm.fr	GRCh37	15	40632217	40632217	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000559313.1:c.145-1G>A		p.X49_splice	ENST00000559313	NM_207380.2			0	not done		damaging	
BRWD1		inserm.fr	GRCh37	21	40646300	40646300	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000333229.2:c.1244G>A	p.Gly415Glu	p.G415E	ENST00000333229	NM_018963.4	415	gGg/gAg	0	not done		possiblydamaging	
DISP2		inserm.fr	GRCh37	15	40656073	40656073	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2127T																					ENST00000267889.3:c.367A>T	p.Ser123Cys	p.S123C	ENST00000267889	NM_033510.1	123	Agc/Tgc	0	not done		probablydamaging	
SLC8A1		inserm.fr	GRCh37	2	40656922	40656922	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1601T																					ENST00000403092.1:c.499G>A	p.Gly167Ser	p.G167S	ENST00000403092		167	Ggt/Agt	0	not done		probablydamaging	
PTGER4		inserm.fr	GRCh37	5	40681716	40681716	+	synonymous_variant	Silent	SNP	C	T	T			CHC1725T																					ENST00000302472.3:c.621C>T	p.Cys207=	p.C207=	ENST00000302472	NM_000958.2	207	tgC/tgT	0	not done		synonymous	
ZMAT4		inserm.fr	GRCh37	8	40683097	40683097	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM269T									Valid												ENST00000297737.6:c.99C>A	p.Tyr33Ter	p.Y33*	ENST00000297737	NM_024645.2	33	taC/taA	0	validated		damaging	
RIT2		inserm.fr	GRCh37	18	40695397	40695397	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000326695.5:c.88G>A	p.Gly30Arg	p.G30R	ENST00000326695	NM_002930.3	30	Gga/Aga	0	not done		probablydamaging	
MAP3K10		inserm.fr	GRCh37	19	40697996	40697996	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC303T																					ENST00000253055.3:c.58G>T	p.Val20Phe	p.V20F	ENST00000253055	NM_002446.3	20	Gtc/Ttc	0	validated		benign	
TNRC6B		inserm.fr	GRCh37	22	40708994	40708994	+	synonymous_variant	Silent	SNP	C	T	T			CHC1754T																					ENST00000454349.2:c.4671C>T	p.Ser1557=	p.S1557=	ENST00000454349	NM_001162501.1	1557	agC/agT	0	not done		synonymous	
TNRC6B		inserm.fr	GRCh37	22	40711466	40711466	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1044T																					ENST00000454349.2:c.4858C>T	p.Arg1620Ter	p.R1620*	ENST00000454349	NM_001162501.1	1620	Cga/Tga	0	validated		damaging	
ANKFY1		inserm.fr	GRCh37	17	4071195	4071195	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC320T									Valid												ENST00000570535.1:c.3514G>A	p.Gly1172Arg	p.G1172R	ENST00000570535	NM_001257999.1	1172	Gga/Aga	0	validated		probablydamaging	
MAP3K10		inserm.fr	GRCh37	19	40719738	40719738	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000253055.3:c.2152C>T	p.Pro718Ser	p.P718S	ENST00000253055	NM_002446.3	718	Ccg/Tcg	0	validated		benign	
ZMPSTE24		inserm.fr	GRCh37	1	40751636	40751636	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000372759.3:c.994G>T	p.Val332Leu	p.V332L	ENST00000372759	NM_005857.4	332	Gta/Tta	0	not done		benign	
ADSL		inserm.fr	GRCh37	22	40757527	40757527	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000216194.7:c.898C>T	p.Arg300Cys	p.R300C	ENST00000216194	NM_000026.2	300	Cgt/Tgt	0	validated		probablydamaging	
ADSL		inserm.fr	GRCh37	22	40762493	40762493	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000216194.7:c.1422C>T	p.Ser474=	p.S474=	ENST00000216194	NM_000026.2	474	agC/agT	0	validated		synonymous	
CHL1		inserm.fr	GRCh37	3	407675	407675	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000256509.2:c.1628C>T	p.Pro543Leu	p.P543L	ENST00000256509	NM_001253388.1	543	cCc/cTc	0	not done		benign	
COL9A2		inserm.fr	GRCh37	1	40773154	40773154	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000372748.3:c.972G>A	p.Ala324=	p.A324=	ENST00000372748	NM_001852.3	324	gcG/gcA	0	not done		synonymous	
PRKAA1		inserm.fr	GRCh37	5	40775056	40775056	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1753T																					ENST00000354209.3:c.382G>A	p.Val128Ile	p.V128I	ENST00000354209		128	Gta/Ata	0	not done			
CCR10		inserm.fr	GRCh37	17	40832032	40832032	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000332438.4:c.628G>A	p.Ala210Thr	p.A210T	ENST00000332438	NM_016602.2	210	Gcg/Acg	0	not done		benign	
CNTNAP1		inserm.fr	GRCh37	17	40845425	40845425	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000264638.4:c.2863C>T	p.Pro955Ser	p.P955S	ENST00000264638	NM_003632.2	955	Ccc/Tcc	0	not done		benign	
CNTNAP1		inserm.fr	GRCh37	17	40847763	40847763	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1747T																					ENST00000264638.4:c.3217C>T	p.Arg1073Cys	p.R1073C	ENST00000264638	NM_003632.2	1073	Cgt/Tgt	0	not done		probablydamaging	
CARD6		inserm.fr	GRCh37	5	40852644	40852644	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC433T									Valid												ENST00000254691.5:c.1210G>T	p.Ala404Ser	p.A404S	ENST00000254691	NM_032587.3	404	Gct/Tct	0	validated		probablydamaging	
CASC5		inserm.fr	GRCh37	15	40898637	40898637	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2208T									Valid												ENST00000346991.5:c.122A>T	p.Asn41Ile	p.N41I	ENST00000346991		41	aAt/aTt	0	validated		probablydamaging	
PRX		inserm.fr	GRCh37	19	40900171	40900171	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC320T																					ENST00000324001.7:c.4088G>A	p.Ser1363Asn	p.S1363N	ENST00000324001	NM_181882.2	1363	aGt/aAt	0	validated		benign	
PRX		inserm.fr	GRCh37	19	40900746	40900746	+	synonymous_variant	Silent	SNP	C	T	T			CHC303T																					ENST00000324001.7:c.3513G>A	p.Gln1171=	p.Q1171=	ENST00000324001	NM_181882.2	1171	caG/caA	0	validated		synonymous	
PRX		inserm.fr	GRCh37	19	40903400	40903400	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000324001.7:c.859G>A	p.Ala287Thr	p.A287T	ENST00000324001	NM_181882.2	287	Gcc/Acc	0	not done		benign	
PRX		inserm.fr	GRCh37	19	40913824	40913824	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000324001.7:c.16C>A	p.Arg6=	p.R6=	ENST00000324001	NM_181882.2	6	Cgg/Agg	0	not done		synonymous	
VPS25		inserm.fr	GRCh37	17	40926702	40926702	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM567T																					ENST00000253794.2:c.238G>T	p.Glu80Ter	p.E80*	ENST00000253794	NM_032353.3	80	Gaa/Taa	0	validated		damaging	
SERTAD1		inserm.fr	GRCh37	19	40929009	40929009	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000357949.4:c.445G>A	p.Ala149Thr	p.A149T	ENST00000357949	NM_013376.3	149	Gcg/Acg	0	not done		benign	
COA3		inserm.fr	GRCh37	17	40950579	40950579	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000328434.7:c.121G>A	p.Ala41Thr	p.A41T	ENST00000328434	NM_001040431.2	41	Gcg/Acg	0	not done		benign	
CASC5		inserm.fr	GRCh37	15	40954317	40954317	+	synonymous_variant	Silent	SNP	C	T	T			CHC2099T																					ENST00000346991.5:c.6960C>T	p.Asn2320=	p.N2320=	ENST00000346991		2320	aaC/aaT	0	not done		synonymous	
CNTD1		inserm.fr	GRCh37	17	40957770	40957770	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000588408.1:c.448C>T	p.Leu150Phe	p.L150F	ENST00000588408	NM_173478.2	150	Ctc/Ttc	0	not done		possiblydamaging	
UNC5CL		inserm.fr	GRCh37	6	40996335	40996335	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000244565.3:c.1335-1G>A		p.X445_splice	ENST00000244565	NM_173561.2			0	not done		damaging	
UNC5CL		inserm.fr	GRCh37	6	41000852	41000852	+	synonymous_variant	Silent	SNP	C	T	T			CHC1743T																					ENST00000244565.3:c.720G>A	p.Gly240=	p.G240=	ENST00000244565	NM_173561.2	240	ggG/ggA	0	not done		synonymous	
AOC2		inserm.fr	GRCh37	17	41001103	41001103	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC303T									Valid												ENST00000253799.3:c.1589G>T	p.Gly530Val	p.G530V	ENST00000253799	NM_009590.2	530	gGg/gTg	0	validated		possiblydamaging	
SPTBN4		inserm.fr	GRCh37	19	41018913	41018913	+	synonymous_variant	Silent	SNP	G	T	T			CHC320T																					ENST00000352632.3:c.2217G>T	p.Val739=	p.V739=	ENST00000352632		739	gtG/gtT	0	validated		synonymous	
MCHR1		inserm.fr	GRCh37	22	41077602	41077602	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC794T																					ENST00000249016.4:c.939G>T	p.Gln313His	p.Q313H	ENST00000249016	NM_005297.3	313	caG/caT	0	validated		benign	
MCHR1		inserm.fr	GRCh37	22	41077755	41077755	+	synonymous_variant	Silent	SNP	G	T	T			BCM683T																					ENST00000249016.4:c.1092G>T	p.Ala364=	p.A364=	ENST00000249016	NM_005297.3	364	gcG/gcT	0	validated		synonymous	
ZFYVE19		inserm.fr	GRCh37	15	41099829	41099829	+	synonymous_variant	Silent	SNP	G	T	T			CHC1079T																					ENST00000355341.4:c.42G>T	p.Pro14=	p.P14=	ENST00000355341	NM_001077268.1	14	ccG/ccT	0	not done		synonymous	
ZFYVE19		inserm.fr	GRCh37	15	41099863	41099863	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000355341.4:c.76G>T	p.Ala26Ser	p.A26S	ENST00000355341	NM_001077268.1	26	Gct/Tct	0	not done		benign	
AARSD1		inserm.fr	GRCh37	17	41106957	41106957	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000421990.2:c.1411G>A	p.Ala471Thr	p.A471T	ENST00000421990	NM_001136042.2	471	Gct/Act	0	not done		probablydamaging	
RIMS3		inserm.fr	GRCh37	1	41107465	41107465	+	synonymous_variant	Silent	SNP	G	T	T			CHC1743T																					ENST00000372684.3:c.133C>A	p.Arg45=	p.R45=	ENST00000372684	NM_014747.2	45	Cgg/Agg	0	not done		synonymous	
LTBP4		inserm.fr	GRCh37	19	41107528	41107528	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000308370.7:c.451+1445C>T		*151*	ENST00000308370	NM_001042544.1			0	not done			
AARSD1		inserm.fr	GRCh37	17	41108459	41108459	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000421990.2:c.1030G>A	p.Val344Ile	p.V344I	ENST00000421990	NM_001136042.2	344	Gtc/Atc	0	not done		probablydamaging	
LTBP4		inserm.fr	GRCh37	19	41113383	41113383	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000308370.7:c.1305C>T	p.Arg435=	p.R435=	ENST00000308370	NM_001042544.1	435	cgC/cgT	0	not done		synonymous	
LTBP4		inserm.fr	GRCh37	19	41129849	41129849	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC433T																					ENST00000308370.7:c.3892G>T	p.Glu1298Ter	p.E1298*	ENST00000308370	NM_001042544.1	1298	Gag/Tag	0	validated		damaging	
LTBP4		inserm.fr	GRCh37	19	41131796	41131796	+	synonymous_variant	Silent	SNP	G	T	T			CHC891T																					ENST00000308370.7:c.4065G>T	p.Gly1355=	p.G1355=	ENST00000308370	NM_001042544.1	1355	ggG/ggT	0	not done			
IGSF5		inserm.fr	GRCh37	21	41137506	41137506	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC609T									Valid												ENST00000380588.4:c.145A>T	p.Arg49Ter	p.R49*	ENST00000380588	NM_001080444.1	49	Aga/Tga	0	validated		damaging	
TREML2		inserm.fr	GRCh37	6	41165970	41165970	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000483722.1:c.253G>A	p.Ala85Thr	p.A85T	ENST00000483722	NM_024807.2	85	Gcc/Acc	0	not done		possiblydamaging	
TREML2		inserm.fr	GRCh37	6	41166159	41166159	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000483722.1:c.64G>A	p.Ala22Thr	p.A22T	ENST00000483722	NM_024807.2	22	Gct/Act	0	not done		benign	
NUMBL		inserm.fr	GRCh37	19	41173573	41173573	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000252891.4:c.1630G>A	p.Ala544Thr	p.A544T	ENST00000252891	NM_004756.3	544	Gcc/Acc	0	not done		benign	
SNRPA		inserm.fr	GRCh37	19	41257325	41257325	+	synonymous_variant	Silent	SNP	C	T	T			BCM339T																					ENST00000243563.3:c.12C>T	p.Pro4=	p.P4=	ENST00000243563	NM_004596.4	4	ccC/ccT	0	validated		synonymous	
DNAJB7		inserm.fr	GRCh37	22	41257976	41257976	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1597T																					ENST00000307221.4:c.23T>A	p.Leu8Gln	p.L8Q	ENST00000307221	NM_145174.1	8	cTa/cAa	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266096	41266096	+	synonymous_variant	Silent	SNP	G	T	T			BCB307T																					ENST00000349496.5:c.93G>T	p.Leu31=	p.L31=	ENST00000349496	NM_001904.3	31	ctG/ctT	0	validated		synonymous	
CTNNB1		inserm.fr	GRCh37	3	41266097	41266097	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1137T									Valid												ENST00000349496.5:c.94G>T	p.Asp32Tyr	p.D32Y	ENST00000349496	NM_001904.3	32	Gac/Tac	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266097	41266097	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1629T									Valid												ENST00000349496.5:c.94G>T	p.Asp32Tyr	p.D32Y	ENST00000349496	NM_001904.3	32	Gac/Tac	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266097	41266097	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM735T																					ENST00000349496.5:c.94G>T	p.Asp32Tyr	p.D32Y	ENST00000349496	NM_001904.3	32	Gac/Tac	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCB307T									Valid												ENST00000349496.5:c.95A>T	p.Asp32Val	p.D32V	ENST00000349496	NM_001904.3	32	gAc/gTc	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1041T									Valid												ENST00000349496.5:c.95A>T	p.Asp32Val	p.D32V	ENST00000349496	NM_001904.3	32	gAc/gTc	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1731T									Valid												ENST00000349496.5:c.95A>T	p.Asp32Val	p.D32V	ENST00000349496	NM_001904.3	32	gAc/gTc	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1747T									Valid												ENST00000349496.5:c.95A>T	p.Asp32Val	p.D32V	ENST00000349496	NM_001904.3	32	gAc/gTc	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1745T									Valid												ENST00000349496.5:c.95A>T	p.Asp32Val	p.D32V	ENST00000349496	NM_001904.3	32	gAc/gTc	0	validated		damaging	
CTNNB1		inserm.fr	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1186T									Valid												ENST00000349496.5:c.98C>T	p.Ser33Phe	p.S33F	ENST00000349496	NM_001904.3	33	tCt/tTt	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM265T									Valid												ENST00000349496.5:c.98C>T	p.Ser33Phe	p.S33F	ENST00000349496	NM_001904.3	33	tCt/tTt	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266104	41266104	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC879T									Valid												ENST00000349496.5:c.101G>T	p.Gly34Val	p.G34V	ENST00000349496	NM_001904.3	34	gGa/gTa	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266104	41266104	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM545T									Valid												ENST00000349496.5:c.101G>T	p.Gly34Val	p.G34V	ENST00000349496	NM_001904.3	34	gGa/gTa	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266113	41266113	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC796T									Valid												ENST00000349496.5:c.110C>T	p.Ser37Phe	p.S37F	ENST00000349496	NM_001904.3	37	tCt/tTt	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266113	41266113	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM275T									Valid												ENST00000349496.5:c.110C>T	p.Ser37Phe	p.S37F	ENST00000349496	NM_001904.3	37	tCt/tTt	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266113	41266113	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM783T									Valid												ENST00000349496.5:c.110C>T	p.Ser37Phe	p.S37F	ENST00000349496	NM_001904.3	37	tCt/tTt	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266113	41266113	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM375T									Valid												ENST00000349496.5:c.110C>T	p.Ser37Phe	p.S37F	ENST00000349496	NM_001904.3	37	tCt/tTt	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266125	41266125	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1756T									Valid												ENST00000349496.5:c.122C>T	p.Thr41Ile	p.T41I	ENST00000349496	NM_001904.3	41	aCc/aTc	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266125	41266125	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM683T									Valid												ENST00000349496.5:c.122C>T	p.Thr41Ile	p.T41I	ENST00000349496	NM_001904.3	41	aCc/aTc	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266125	41266125	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1600T									Valid												ENST00000349496.5:c.122C>T	p.Thr41Ile	p.T41I	ENST00000349496	NM_001904.3	41	aCc/aTc	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266137	41266137	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC197T									Valid												ENST00000349496.5:c.134C>T	p.Ser45Phe	p.S45F	ENST00000349496	NM_001904.3	45	tCt/tTt	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41266137	41266137	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1028T									Valid												ENST00000349496.5:c.134C>T	p.Ser45Phe	p.S45F	ENST00000349496	NM_001904.3	45	tCt/tTt	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41268766	41268766	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1603T									Valid												ENST00000349496.5:c.1004A>T	p.Lys335Ile	p.K335I	ENST00000349496	NM_001904.3	335	aAa/aTa	0	not done		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41268766	41268766	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1763T									Valid												ENST00000349496.5:c.1004A>T	p.Lys335Ile	p.K335I	ENST00000349496	NM_001904.3	335	aAa/aTa	0	validated		probablydamaging	
CTNNB1		inserm.fr	GRCh37	3	41275754	41275754	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB307T									Valid												ENST00000349496.5:c.1649G>T	p.Arg550Leu	p.R550L	ENST00000349496	NM_001904.3	550	cGt/cTt	0	validated		probablydamaging	
KCNQ4		inserm.fr	GRCh37	1	41288019	41288019	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000347132.5:c.1075C>T	p.Arg359Trp	p.R359W	ENST00000347132	NM_004700.3	359	Cgg/Tgg	0	validated		probablydamaging	
PCP4		inserm.fr	GRCh37	21	41300976	41300976	+	synonymous_variant	Silent	SNP	G	T	T			CHC451T																					ENST00000328619.5:c.129G>T	p.Ala43=	p.A43=	ENST00000328619	NM_006198.2	43	gcG/gcT	0	not done		synonymous	
CNTN1		inserm.fr	GRCh37	12	41316220	41316220	+	synonymous_variant	Silent	SNP	G	T	T			CHC465T																					ENST00000551295.2:c.390G>T	p.Leu130=	p.L130=	ENST00000551295	NM_001843.3	130	ctG/ctT	0	validated		synonymous	
CITED4		inserm.fr	GRCh37	1	41327705	41327705	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1148T																					ENST00000372638.2:c.95T>A	p.Leu32Gln	p.L32Q	ENST00000372638	NM_133467.2	32	cTg/cAg	0	validated		possiblydamaging	
MRPS31		inserm.fr	GRCh37	13	41328163	41328163	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1192T																					ENST00000323563.6:c.806C>A	p.Pro269His	p.P269H	ENST00000323563	NM_005830.3	269	cCt/cAt	0	validated		possiblydamaging	
NYX		inserm.fr	GRCh37	X	41333357	41333357	+	synonymous_variant	Silent	SNP	C	T	T			CHC1183T																					ENST00000342595.2:c.651C>T	p.Arg217=	p.R217=	ENST00000342595	NM_022567.2	217	cgC/cgT	0	not done		synonymous	
TMEM106A		inserm.fr	GRCh37	17	41365203	41365203	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1611T																					ENST00000331615.3:c.143G>T	p.Cys48Phe	p.C48F	ENST00000331615	NM_145041.1	48	tGt/tTt	0	not done		benign	
CASK		inserm.fr	GRCh37	X	41383287	41383287	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC322T									Valid												ENST00000378166.4:c.2506G>A	p.Ala836Thr	p.A836T	ENST00000378166	NM_003688.3	836	Gca/Aca	0	validated		possiblydamaging	
PTPRT		inserm.fr	GRCh37	20	41419902	41419902	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000373198.4:c.419G>A	p.Gly140Glu	p.G140E	ENST00000373198	NM_133170.3	140	gGg/gAg	0	not done		possiblydamaging	
NKX6-3		inserm.fr	GRCh37	8	41507691	41507691	+	upstream_gene_variant	5'Flank	SNP	C	T	T			CHC892T																								ENST00000524115	NM_152568.2			0	not done		synonymous	
DSCAM		inserm.fr	GRCh37	21	41516460	41516460	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000400454.1:c.3217G>A	p.Gly1073Arg	p.G1073R	ENST00000400454	NM_001271534.1	1073	Ggg/Agg	0	not done		probablydamaging	
SCMH1		inserm.fr	GRCh37	1	41536337	41536337	+	synonymous_variant	Silent	SNP	A	T	T			CHC902T																					ENST00000402904.2:c.1005T>A	p.Pro335=	p.P335=	ENST00000402904	NM_001031694.2	335	ccT/ccA	0	not done		synonymous	
DSCAM		inserm.fr	GRCh37	21	41550881	41550881	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1534T																					ENST00000400454.1:c.2920G>A	p.Glu974Lys	p.E974K	ENST00000400454	NM_001271534.1	974	Gag/Aag	0	validated		probablydamaging	
ANK1		inserm.fr	GRCh37	8	41553898	41553898	+	synonymous_variant	Silent	SNP	C	T	T			CHC2141T																					ENST00000265709.8:c.3066G>A	p.Thr1022=	p.T1022=	ENST00000265709	NM_001142446.1	1022	acG/acA	0	not done		synonymous	
DSCAM		inserm.fr	GRCh37	21	41561017	41561017	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			BCB231T																					ENST00000400454.1:c.2505T>A	p.Tyr835Ter	p.Y835*	ENST00000400454	NM_001271534.1	835	taT/taA	0	validated		damaging	
ANK1		inserm.fr	GRCh37	8	41566398	41566398	+	synonymous_variant	Silent	SNP	C	T	T			CHC1041T																					ENST00000265709.8:c.1995G>A	p.Ser665=	p.S665=	ENST00000265709	NM_001142446.1	665	tcG/tcA	0	validated		synonymous	
PDZRN4		inserm.fr	GRCh37	12	41582732	41582732	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC218T																					ENST00000402685.2:c.475G>T	p.Gly159Ter	p.G159*	ENST00000402685	NM_001164595.1	159	Gga/Tga	0	validated		damaging	
DHX8		inserm.fr	GRCh37	17	41585862	41585862	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC218T																					ENST00000262415.3:c.2476G>T	p.Asp826Tyr	p.D826Y	ENST00000262415	NM_004941.1	826	Gac/Tac	0	validated		probablydamaging	
DHX8		inserm.fr	GRCh37	17	41590761	41590761	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC799T																					ENST00000262415.3:c.2534C>T	p.Ser845Leu	p.S845L	ENST00000262415	NM_004941.1	845	tCg/tTg	0	not done		probablydamaging	
CYP2F1		inserm.fr	GRCh37	19	41627998	41627998	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000331105.2:c.782C>T	p.Pro261Leu	p.P261L	ENST00000331105	NM_000774.3	261	cCc/cTc	0	not done		possiblydamaging	
CYP2F1		inserm.fr	GRCh37	19	41630626	41630626	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000331105.2:c.967C>T	p.Arg323Cys	p.R323C	ENST00000331105	NM_000774.3	323	Cgc/Tgc	0	not done		possiblydamaging	
CYP2F1		inserm.fr	GRCh37	19	41633972	41633972	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000331105.2:c.1461C>T	p.Cys487=	p.C487=	ENST00000331105	NM_000774.3	487	tgC/tgT	0	not done		synonymous	
LIMCH1		inserm.fr	GRCh37	4	41648676	41648676	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000313860.7:c.1431C>T	p.Ser477=	p.S477=	ENST00000313860	NM_014988.2	477	tcC/tcT	0	not done		synonymous	
RANGAP1		inserm.fr	GRCh37	22	41652249	41652249	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000455915.2:c.934G>A	p.Ala312Thr	p.A312T	ENST00000455915		312	Gct/Act	0	not done		benign	
TFEB		inserm.fr	GRCh37	6	41658874	41658874	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000230323.4:c.78G>A	p.Gln26=	p.Q26=	ENST00000230323	NM_007162.2	26	caG/caA	0	not done		synonymous	
KBTBD6		inserm.fr	GRCh37	13	41705990	41705990	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000379485.1:c.658G>A	p.Ala220Thr	p.A220T	ENST00000379485	NM_152903.4	220	Gcc/Acc	0	not done		benign	
CYP2S1		inserm.fr	GRCh37	19	41707265	41707265	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000310054.4:c.964C>T	p.Pro322Ser	p.P322S	ENST00000310054	NM_030622.6	322	Cct/Tct	0	not done		possiblydamaging	
MEOX1		inserm.fr	GRCh37	17	41720899	41720899	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2110Tbis																					ENST00000318579.4:c.599G>A	p.Arg200His	p.R200H	ENST00000318579	NM_001040002.1	200	cGc/cAc	0	not done		probablydamaging	
FRS3		inserm.fr	GRCh37	6	41738541	41738541	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000373018.3:c.1295G>A	p.Gly432Glu	p.G432E	ENST00000373018	NM_006653.4	432	gGg/gAg	0	not done		benign	
FRS3		inserm.fr	GRCh37	6	41738542	41738542	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000373018.3:c.1294G>A	p.Gly432Arg	p.G432R	ENST00000373018	NM_006653.4	432	Ggg/Agg	0	not done		probablydamaging	
FRS3		inserm.fr	GRCh37	6	41738810	41738810	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000373018.3:c.1026G>A	p.Glu342=	p.E342=	ENST00000373018	NM_006653.4	342	gaG/gaA	0	not done		synonymous	
INHBA		inserm.fr	GRCh37	7	41739715	41739715	+	synonymous_variant	Silent	SNP	C	T	T			CHC434T																					ENST00000242208.4:c.258G>A	p.Ala86=	p.A86=	ENST00000242208	NM_002192.2	86	gcG/gcA	0	validated		synonymous	
INHBA		inserm.fr	GRCh37	7	41739842	41739842	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC434T																					ENST00000242208.4:c.131C>A	p.Pro44Gln	p.P44Q	ENST00000242208	NM_002192.2	44	cCa/cAa	0	validated		benign	
AXL		inserm.fr	GRCh37	19	41754418	41754418	+	splice_acceptor_variant	Splice_Site	SNP	G	T	T			CHC1754T																					ENST00000301178.4:c.1538-1G>T		p.X513_splice	ENST00000301178	NM_021913.4			0	not done		damaging	
AXL		inserm.fr	GRCh37	19	41765715	41765715	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2216T																					ENST00000301178.4:c.2591G>T	p.Gly864Val	p.G864V	ENST00000301178	NM_021913.4	864	gGa/gTa	0	not done		probablydamaging	
HNRNPUL1		inserm.fr	GRCh37	19	41778133	41778133	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2103T																					ENST00000392006.3:c.565G>T	p.Asp189Tyr	p.D189Y	ENST00000392006	NM_007040.3	189	Gat/Tat	0	not done		probablydamaging	
ITPKA		inserm.fr	GRCh37	15	41795167	41795167	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1720T																					ENST00000260386.5:c.1189G>T	p.Gly397Cys	p.G397C	ENST00000260386	NM_002220.2	397	Ggc/Tgc	0	not done		probablydamaging	
MTRF1		inserm.fr	GRCh37	13	41800699	41800699	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC912T									Valid												ENST00000379480.4:c.994G>A	p.Val332Ile	p.V332I	ENST00000379480	NM_004294.2	332	Gta/Ata	0	validated		probablydamaging	
LTK		inserm.fr	GRCh37	15	41804990	41804990	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000263800.6:c.274G>A	p.Gly92Arg	p.G92R	ENST00000263800	NM_002344.5	92	Ggg/Agg	0	not done		possiblydamaging	
RPAP1		inserm.fr	GRCh37	15	41819114	41819114	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000304330.4:c.1899G>A	p.Arg633=	p.R633=	ENST00000304330	NM_015540.2	633	agG/agA	0	not done		synonymous	
OXCT1		inserm.fr	GRCh37	5	41842826	41842826	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB231T																					ENST00000196371.5:c.622G>A	p.Ala208Thr	p.A208T	ENST00000196371	NM_000436.3	208	Gct/Act	0	validated		probablydamaging	
FOXO6		inserm.fr	GRCh37	1	41848279	41848279	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC917T																					ENST00000372591.1:c.1406G>T	p.Arg469Leu	p.R469L	ENST00000372591		469	cGa/cTa	0	validated			
C17orf105		inserm.fr	GRCh37	17	41858555	41858555	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	T	T			BCM617T																					ENST00000449302.3:c.193C>T	p.Gln65Ter	p.Q65*	ENST00000449302	NM_001136483.1	65	Cag/Tag	0	validated		damaging	
TYRO3		inserm.fr	GRCh37	15	41862526	41862526	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1186T																					ENST00000263798.3:c.1471A>T	p.Ile491Phe	p.I491F	ENST00000263798	NM_006293.3	491	Atc/Ttc	0	not done		possiblydamaging	
TYRO3		inserm.fr	GRCh37	15	41870242	41870242	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000263798.3:c.2441C>T	p.Thr814Ile	p.T814I	ENST00000263798	NM_006293.3	814	aCt/aTt	0	not done		benign	
MED20		inserm.fr	GRCh37	6	41877197	41877197	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM735T																					ENST00000265350.4:c.233T>A	p.Leu78His	p.L78H	ENST00000265350	NM_004275.3	78	cTc/cAc	0	validated		probablydamaging	
MPP3		inserm.fr	GRCh37	17	41886447	41886447	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000398389.4:c.1459-1G>A		p.X487_splice	ENST00000398389	NM_001932.4			0	not done		damaging	
BYSL		inserm.fr	GRCh37	6	41895198	41895198	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM735T																					ENST00000230340.4:c.355C>T	p.His119Tyr	p.H119Y	ENST00000230340	NM_004053.3	119	Cat/Tat	0	validated		benign	
BCKDHA		inserm.fr	GRCh37	19	41903755	41903755	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1754T																					ENST00000269980.2:c.23C>T	p.Ala8Val	p.A8V	ENST00000269980	NM_000709.3	8	gCg/gTg	0	not done		benign	
MPP3		inserm.fr	GRCh37	17	41907021	41907021	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000398389.4:c.441+1G>A		p.X147_splice	ENST00000398389	NM_001932.4			0	not done		damaging	
MPP3		inserm.fr	GRCh37	17	41908660	41908660	+	synonymous_variant	Silent	SNP	C	T	T			CHC1746T																					ENST00000398389.4:c.174G>A	p.Arg58=	p.R58=	ENST00000398389	NM_001932.4	58	agG/agA	0	not done		synonymous	
CD300LG		inserm.fr	GRCh37	17	41932637	41932637	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000317310.4:c.782C>T	p.Ala261Val	p.A261V	ENST00000317310	NM_145273.3	261	gCc/gTc	0	not done		possiblydamaging	
TMEM33		inserm.fr	GRCh37	4	41946933	41946933	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1754T																					ENST00000504986.1:c.520A>T	p.Met174Leu	p.M174L	ENST00000504986	NM_018126.2	174	Atg/Ttg	0	not done		possiblydamaging	
C19orf69		inserm.fr	GRCh37	19	41949213	41949213	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2115T																					ENST00000378187.2:c.139G>T	p.Ala47Ser	p.A47S	ENST00000378187	NM_001130514.1	47	Gcc/Tcc	0	validated		possiblydamaging	
PDZRN4		inserm.fr	GRCh37	12	41957405	41957405	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM723T																					ENST00000402685.2:c.1421A>T	p.Asp474Val	p.D474V	ENST00000402685	NM_001164595.1	474	gAt/gTt	0	validated		probablydamaging	
MPP2		inserm.fr	GRCh37	17	41958159	41958159	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000269095.4:c.1050G>A	p.Arg350=	p.R350=	ENST00000269095	NM_001278374.1	350	cgG/cgA	0	not done		synonymous	
PDZRN4		inserm.fr	GRCh37	12	41967068	41967068	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000402685.2:c.2487C>T	p.Tyr829=	p.Y829=	ENST00000402685	NM_001164595.1	829	taC/taT	0	not done		synonymous	
CSDC2		inserm.fr	GRCh37	22	41967994	41967994	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000306149.7:c.25C>T	p.Pro9Ser	p.P9S	ENST00000306149	NM_014460.3	9	Cca/Tca	0	not done		benign	
ULK4		inserm.fr	GRCh37	3	41973478	41973478	+	synonymous_variant	Silent	SNP	G	T	T			CHC314T																					ENST00000301831.4:c.399C>A	p.Gly133=	p.G133=	ENST00000301831	NM_017886.2	133	ggC/ggA	0	validated		synonymous	
HIVEP3		inserm.fr	GRCh37	1	41978592	41978592	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000372583.1:c.6300G>A	p.Gly2100=	p.G2100=	ENST00000372583	NM_024503.4	2100	ggG/ggA	0	not done		synonymous	
OTOP1		inserm.fr	GRCh37	4	4199702	4199702	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1603T																					ENST00000296358.4:c.859G>A	p.Val287Ile	p.V287I	ENST00000296358	NM_177998.1	287	Gtc/Atc	0	not done		probablydamaging	
DESI1		inserm.fr	GRCh37	22	42000082	42000082	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1725T																					ENST00000263256.6:c.256G>A	p.Glu86Lys	p.E86K	ENST00000263256	NM_015704.2	86	Gag/Aag	0	not done		possiblydamaging	
GLI3		inserm.fr	GRCh37	7	42003992	42003992	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000395925.3:c.4679G>A	p.Gly1560Glu	p.G1560E	ENST00000395925	NM_000168.5	1560	gGg/gAg	0	not done		probablydamaging	
GLI3		inserm.fr	GRCh37	7	42005019	42005019	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000395925.3:c.3652G>A	p.Glu1218Lys	p.E1218K	ENST00000395925	NM_000168.5	1218	Gag/Aag	0	not done		benign	
GLI3		inserm.fr	GRCh37	7	42005383	42005383	+	synonymous_variant	Silent	SNP	C	T	T			CHC327T																					ENST00000395925.3:c.3288G>A	p.Val1096=	p.V1096=	ENST00000395925	NM_000168.5	1096	gtG/gtA	0	validated		synonymous	
GLI3		inserm.fr	GRCh37	7	42005499	42005499	+	synonymous_variant	Silent	SNP	G	T	T			CHC1065T																					ENST00000395925.3:c.3172C>A	p.Arg1058=	p.R1058=	ENST00000395925	NM_000168.5	1058	Cga/Aga	0	validated		synonymous	
AP3M2		inserm.fr	GRCh37	8	42024860	42024860	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1629T																					ENST00000518421.1:c.982G>T	p.Gly328Trp	p.G328W	ENST00000518421	NM_001134296.1	328	Ggg/Tgg	0	not done		probablydamaging	
HIVEP3		inserm.fr	GRCh37	1	42046270	42046270	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1081T																					ENST00000372583.1:c.4199T>A	p.Val1400Glu	p.V1400E	ENST00000372583	NM_024503.4	1400	gTg/gAg	0	validated		possiblydamaging	
HIVEP3		inserm.fr	GRCh37	1	42046965	42046965	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372583.1:c.3504G>A	p.Met1168Ile	p.M1168I	ENST00000372583	NM_024503.4	1168	atG/atA	0	not done		possiblydamaging	
HIVEP3		inserm.fr	GRCh37	1	42047155	42047155	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372583.1:c.3314G>A	p.Gly1105Glu	p.G1105E	ENST00000372583	NM_024503.4	1105	gGg/gAg	0	not done		benign	
HIVEP3		inserm.fr	GRCh37	1	42048597	42048597	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000372583.1:c.1872G>A	p.Lys624=	p.K624=	ENST00000372583	NM_024503.4	624	aaG/aaA	0	not done		synonymous	
HIVEP3		inserm.fr	GRCh37	1	42050246	42050246	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372583.1:c.223G>A	p.Gly75Ser	p.G75S	ENST00000372583	NM_024503.4	75	Ggc/Agc	0	not done		probablydamaging	
C6orf132		inserm.fr	GRCh37	6	42073256	42073256	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000341865.4:c.2394G>A	p.Gly798=	p.G798=	ENST00000341865	NM_001164446.1	798	ggG/ggA	0	not done		synonymous	
C6orf132		inserm.fr	GRCh37	6	42074162	42074162	+	synonymous_variant	Silent	SNP	C	T	T			BCM337T																					ENST00000341865.4:c.1488G>A	p.Val496=	p.V496=	ENST00000341865	NM_001164446.1	496	gtG/gtA	0	validated		synonymous	
ANKRD24		inserm.fr	GRCh37	19	4207964	4207964	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC1754T																					ENST00000600132.1:c.831C>T	p.Ser277=	p.S277=	ENST00000600132	NM_133475.1	277	agC/agT	0	validated		damaging	
CEACAM21		inserm.fr	GRCh37	19	42082667	42082667	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM783T									Valid												ENST00000401445.2:c.41C>T	p.Pro14Leu	p.P14L	ENST00000401445		14	cCc/cTc	0	validated		probablydamaging	
CEACAM21		inserm.fr	GRCh37	19	42092198	42092198	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC889T																					ENST00000401445.2:c.856G>T	p.Gly286Ter	p.G286*	ENST00000401445		286	Gga/Tga	0	not done		damaging	
C6orf132		inserm.fr	GRCh37	6	42096439	42096439	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000341865.4:c.223G>A	p.Val75Ile	p.V75I	ENST00000341865	NM_001164446.1	75	Gtc/Atc	0	not done			
JMJD7		inserm.fr	GRCh37	15	42127037	42127037	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000382448.4:c.164G>T	p.Arg55Leu	p.R55L	ENST00000382448		55	cGc/cTc	0	not done		probablydamaging	
PLA2G4B		inserm.fr	GRCh37	15	42132414	42132414	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM543T																					ENST00000382448.4:c.761C>T	p.Pro254Leu	p.P254L	ENST00000382448		254	cCc/cTc	0	validated		probablydamaging	
SDK1		inserm.fr	GRCh37	7	4213951	4213951	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000404826.2:c.4898C>T	p.Thr1633Met	p.T1633M	ENST00000404826	NM_152744.3	1633	aCg/aTg	0	validated		probablydamaging	
SPTBN5		inserm.fr	GRCh37	15	42145565	42145565	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM791T																					ENST00000320955.6:c.10061G>A	p.Gly3354Glu	p.G3354E	ENST00000320955	NM_016642.3	3354	gGg/gAg	0	validated		benign	
SPTBN5		inserm.fr	GRCh37	15	42145880	42145880	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1531T																					ENST00000320955.6:c.9880G>A	p.Glu3294Lys	p.E3294K	ENST00000320955	NM_016642.3	3294	Gag/Aag	0	not done		possiblydamaging	
IKBKB		inserm.fr	GRCh37	8	42147785	42147785	+	synonymous_variant	Silent	SNP	C	T	T			BCM683T																					ENST00000520810.1:c.312C>T	p.Leu104=	p.L104=	ENST00000520810	NM_001556.2	104	ctC/ctT	0	validated		synonymous	
SPTBN5		inserm.fr	GRCh37	15	42148674	42148674	+	synonymous_variant	Silent	SNP	C	T	T			CHC1534T																					ENST00000320955.6:c.8931G>A	p.Leu2977=	p.L2977=	ENST00000320955	NM_016642.3	2977	ctG/ctA	0	validated		synonymous	
SPTBN5		inserm.fr	GRCh37	15	42154757	42154757	+	synonymous_variant	Silent	SNP	G	T	T			CHC320T																					ENST00000320955.6:c.7365C>A	p.Leu2455=	p.L2455=	ENST00000320955	NM_016642.3	2455	ctC/ctA	0	validated		synonymous	
SPTBN5		inserm.fr	GRCh37	15	42162717	42162717	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1211T																					ENST00000320955.6:c.5489G>A	p.Gly1830Asp	p.G1830D	ENST00000320955	NM_016642.3	1830	gGc/gAc	0	not done		probablydamaging	
HDAC5		inserm.fr	GRCh37	17	42165026	42165026	+	synonymous_variant	Silent	SNP	G	T	T			BCB111T																					ENST00000225983.6:c.1641C>A	p.Thr547=	p.T547=	ENST00000225983		547	acC/acA	0	validated		synonymous	
ANKRD24		inserm.fr	GRCh37	19	4217432	4217432	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000600132.1:c.2275G>T	p.Ala759Ser	p.A759S	ENST00000600132	NM_133475.1	759	Gcc/Tcc	0	not done		benign	
SPTBN5		inserm.fr	GRCh37	15	42174645	42174645	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000320955.6:c.2069G>A	p.Arg690His	p.R690H	ENST00000320955	NM_016642.3	690	cGc/cAc	0	not done		benign	
SPTBN5		inserm.fr	GRCh37	15	42174914	42174914	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM371T																					ENST00000320955.6:c.1915C>A	p.Leu639Met	p.L639M	ENST00000320955	NM_016642.3	639	Ctg/Atg	0	validated		probablydamaging	
CEACAM7		inserm.fr	GRCh37	19	42187994	42187994	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000006724.3:c.428C>A	p.Ser143Ter	p.S143*	ENST00000006724	NM_006890.3	143	tCg/tAg	0	not done		possiblydamaging	
CEACAM5		inserm.fr	GRCh37	19	42213600	42213600	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000221992.6:c.66C>T	p.Ala22=	p.A22=	ENST00000221992	NM_004363.2	22	gcC/gcT	0	not done		damaging	
CEACAM5		inserm.fr	GRCh37	19	42219575	42219575	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC465T									Valid												ENST00000221992.6:c.710C>T	p.Pro237Leu	p.P237L	ENST00000221992	NM_004363.2	237	cCg/cTg	0	validated		probablydamaging	
C17orf53		inserm.fr	GRCh37	17	42225701	42225701	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1744T																					ENST00000319977.4:c.530G>T	p.Gly177Val	p.G177V	ENST00000319977	NM_024032.3	177	gGa/gTa	0	not done		probablydamaging	
ANKRD24		inserm.fr	GRCh37	19	4222732	4222732	+	synonymous_variant	Silent	SNP	C	T	T			CHC1205T																					ENST00000600132.1:c.3237C>T	p.Leu1079=	p.L1079=	ENST00000600132	NM_133475.1	1079	ctC/ctT	0	not done		synonymous	
SREBF2		inserm.fr	GRCh37	22	42229287	42229287	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000361204.4:c.13G>T	p.Gly5Cys	p.G5C	ENST00000361204	NM_004599.3	5	Ggc/Tgc	0	validated		possiblydamaging	
TRERF1		inserm.fr	GRCh37	6	42236730	42236730	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM371T																					ENST00000372922.4:c.599G>A	p.Arg200His	p.R200H	ENST00000372922	NM_033502.2	200	cGc/cAc	0	validated		probablydamaging	
TMEM8A		inserm.fr	GRCh37	16	422651	422651	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000431232.2:c.1979G>A	p.Gly660Glu	p.G660E	ENST00000431232	NM_021259.2	660	gGg/gAg	0	not done		probablydamaging	
CEACAM6		inserm.fr	GRCh37	19	42265290	42265290	+	synonymous_variant	Silent	SNP	G	T	T			CHC1545T																					ENST00000199764.6:c.558G>T	p.Pro186=	p.P186=	ENST00000199764	NM_002483.4	186	ccG/ccT	0	not done		synonymous	
CEACAM6		inserm.fr	GRCh37	19	42265356	42265356	+	synonymous_variant	Silent	SNP	C	T	T			CHC1186T																					ENST00000199764.6:c.624C>T	p.Asn208=	p.N208=	ENST00000199764	NM_002483.4	208	aaC/aaT	0	not done		synonymous	
TMUB2		inserm.fr	GRCh37	17	42268089	42268089	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1148T																					ENST00000587989.1:c.823G>T	p.Val275Leu	p.V275L	ENST00000587989		275	Gtg/Ttg	0	not done		possiblydamaging	
ATXN7L3		inserm.fr	GRCh37	17	42274695	42274695	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1545T																					ENST00000454077.2:c.257G>A	p.Cys86Tyr	p.C86Y	ENST00000454077	NM_020218.1	86	tGc/tAc	0	not done		probablydamaging	
PLA2G4E		inserm.fr	GRCh37	15	42279427	42279427	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM265T																					ENST00000399518.3:c.1978T>A	p.Ser660Thr	p.S660T	ENST00000399518	NM_001206670.1	660	Tct/Act	0	validated		benign	
ADRA1D		inserm.fr	GRCh37	20	4228789	4228789	+	synonymous_variant	Silent	SNP	G	T	T			CHC805T																					ENST00000379453.4:c.816C>A	p.Val272=	p.V272=	ENST00000379453	NM_000678.3	272	gtC/gtA	0	not done		synonymous	
ADRA1D		inserm.fr	GRCh37	20	4229052	4229052	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1083T																					ENST00000379453.4:c.553C>A	p.Leu185Ile	p.L185I	ENST00000379453	NM_000678.3	185	Ctc/Atc	0	validated		possiblydamaging	
SHISA8		inserm.fr	GRCh37	22	42306537	42306537	+	downstream_gene_variant	3'Flank	SNP	G	T	T			CHC1744T																								ENST00000361204	NM_004599.3			0	not done			
SLC4A1		inserm.fr	GRCh37	17	42327871	42327871	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000262418.6:c.2691G>A	p.Glu897=	p.E897=	ENST00000262418	NM_000342.3	897	gaG/gaA	0	not done		synonymous	
SLC4A1		inserm.fr	GRCh37	17	42330708	42330708	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000262418.6:c.2089G>A	p.Val697Ile	p.V697I	ENST00000262418	NM_000342.3	697	Gtc/Atc	0	not done		benign	
SLC4A1		inserm.fr	GRCh37	17	42338113	42338113	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1611T																					ENST00000262418.6:c.239G>A	p.Arg80His	p.R80H	ENST00000262418	NM_000342.3	80	cGc/cAc	0	not done		probablydamaging	
LYPD4		inserm.fr	GRCh37	19	42341256	42341256	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000330743.3:c.702G>A	p.Trp234Ter	p.W234*	ENST00000330743	NM_173506.4	234	tgG/tgA	0	not done		damaging	
LRFN5		inserm.fr	GRCh37	14	42356820	42356820	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC432T																					ENST00000298119.4:c.992C>T	p.Ala331Val	p.A331V	ENST00000298119	NM_152447.3	331	gCa/gTa	0	not done		benign	
LRFN5		inserm.fr	GRCh37	14	42356931	42356931	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1708T																					ENST00000298119.4:c.1103A>T	p.Gln368Leu	p.Q368L	ENST00000298119	NM_152447.3	368	cAa/cTa	0	not done		probablydamaging	
LRFN5		inserm.fr	GRCh37	14	42361162	42361162	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1052T																					ENST00000298119.4:c.2095C>T	p.Pro699Ser	p.P699S	ENST00000298119	NM_152447.3	699	Cca/Tca	0	validated		benign	
PLA2G4D		inserm.fr	GRCh37	15	42363435	42363435	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000290472.3:c.1762G>A	p.Ala588Thr	p.A588T	ENST00000290472	NM_178034.3	588	Gca/Aca	0	not done		benign	
PLA2G4D		inserm.fr	GRCh37	15	42375496	42375496	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1065T																					ENST00000290472.3:c.572G>A	p.Gly191Glu	p.G191E	ENST00000290472	NM_178034.3	191	gGg/gAg	0	validated		probablydamaging	
PLA2G4D		inserm.fr	GRCh37	15	42375496	42375496	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM567T																					ENST00000290472.3:c.572G>A	p.Gly191Glu	p.G191E	ENST00000290472	NM_178034.3	191	gGg/gAg	0	validated		probablydamaging	
SEPT3		inserm.fr	GRCh37	22	42388699	42388699	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB307T									Valid												ENST00000396426.3:c.797G>T	p.Ser266Ile	p.S266I	ENST00000396426	NM_145733.2	266	aGt/aTt	0	validated		probablydamaging	
RUNDC3A		inserm.fr	GRCh37	17	42389966	42389966	+	synonymous_variant	Silent	SNP	G	T	T			CHC197T																					ENST00000426726.3:c.126G>T	p.Leu42=	p.L42=	ENST00000426726	NM_001144825.1	42	ctG/ctT	0	validated		synonymous	
FAM171A2		inserm.fr	GRCh37	17	42431662	42431662	+	synonymous_variant	Silent	SNP	C	T	T			CHC1742T																					ENST00000293443.7:c.1920G>A	p.Lys640=	p.K640=	ENST00000293443	NM_198475.2	640	aaG/aaA	0	not done		synonymous	
FAM171A2		inserm.fr	GRCh37	17	42433590	42433590	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000293443.7:c.729C>A	p.Ala243=	p.A243=	ENST00000293443	NM_198475.2	243	gcC/gcA	0	not done		synonymous	
PLA2G4F		inserm.fr	GRCh37	15	42442002	42442002	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000382396.4:c.968G>A	p.Gly323Glu	p.G323E	ENST00000382396		323	gGg/gAg	0	not done		possiblydamaging	
ITGA2B		inserm.fr	GRCh37	17	42453285	42453285	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000262407.5:c.2517G>A	p.Gln839=	p.Q839=	ENST00000262407	NM_000419.3	839	caG/caA	0	not done		synonymous	
SRL		inserm.fr	GRCh37	16	4245655	4245655	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1192T																					ENST00000399609.3:c.509T>A	p.Leu170Gln	p.L170Q	ENST00000399609	NM_001098814.1	170	cTa/cAa	0	not done		probablydamaging	
VPS39		inserm.fr	GRCh37	15	42456583	42456583	+	synonymous_variant	Silent	SNP	G	T	T			CHC793T																					ENST00000318006.5:c.1999C>A	p.Arg667=	p.R667=	ENST00000318006	NM_015289.2	667	Cgg/Agg	0	validated		synonymous	
GPATCH8		inserm.fr	GRCh37	17	42475977	42475977	+	synonymous_variant	Silent	SNP	C	T	T			CHC2321T																					ENST00000591680.1:c.3468G>A	p.Lys1156=	p.K1156=	ENST00000591680	NM_001002909.2	1156	aaG/aaA	0	validated		synonymous	
GPATCH8		inserm.fr	GRCh37	17	42476499	42476499	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000591680.1:c.2946G>A	p.Trp982Ter	p.W982*	ENST00000591680	NM_001002909.2	982	tgG/tgA	0	not done		damaging	
VPS39		inserm.fr	GRCh37	15	42476769	42476769	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000318006.5:c.664G>A	p.Gly222Arg	p.G222R	ENST00000318006	NM_015289.2	222	Ggg/Agg	0	not done		probablydamaging	
ATP8A1		inserm.fr	GRCh37	4	42487560	42487560	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000381668.5:c.2277G>A	p.Gln759=	p.Q759=	ENST00000381668	NM_006095.2	759	caG/caA	0	not done		synonymous	
ATP8A1		inserm.fr	GRCh37	4	42487632	42487632	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000381668.5:c.2205G>A	p.Arg735=	p.R735=	ENST00000381668	NM_006095.2	735	cgG/cgA	0	not done		synonymous	
ATP1A3		inserm.fr	GRCh37	19	42489311	42489311	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1148T																					ENST00000545399.1:c.791C>A	p.Thr264Lys	p.T264K	ENST00000545399	NM_001256214.1	264	aCg/aAg	0	not done		probablydamaging	
GRIK5		inserm.fr	GRCh37	19	42510075	42510075	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1082T																					ENST00000262895.3:c.2063G>A	p.Arg688His	p.R688H	ENST00000262895	NM_002088.4	688	cGc/cAc	0	validated		probablydamaging	
TMEM8A		inserm.fr	GRCh37	16	425172	425172	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000431232.2:c.1400G>A	p.Trp467Ter	p.W467*	ENST00000431232	NM_021259.2	467	tGg/tAg	0	not done		damaging	
ATP8A1		inserm.fr	GRCh37	4	42526858	42526858	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1097T																					ENST00000381668.5:c.1729G>A	p.Val577Ile	p.V577I	ENST00000381668	NM_006095.2	577	Gta/Ata	0	validated		probablydamaging	
CYP2D7P1		inserm.fr	GRCh37	22	42537675	42537675	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	T	T			BCM423T																					ENST00000435101.1:c.68G>A	p.Ser23Asn	p.S23N	ENST00000435101		23	aGc/aAc	0	validated			
PLAC4		inserm.fr	GRCh37	21	42551262	42551262	+	intron_variant	Intron	SNP	G	T	T			BCM423T																					ENST00000330333.6:c.312+10760G>T		*104*	ENST00000330333	NM_012105.4			0	validated		benign	
TMEM87A		inserm.fr	GRCh37	15	42560144	42560144	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000389834.4:c.291+1G>A		p.X97_splice	ENST00000389834	NM_015497.3			0	not done		damaging	
GRIK5		inserm.fr	GRCh37	19	42561131	42561131	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000262895.3:c.688-1G>A		p.X230_splice	ENST00000262895	NM_002088.4			0	not done		damaging	
GRIK5		inserm.fr	GRCh37	19	42566744	42566744	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000262895.3:c.404C>A	p.Ser135Tyr	p.S135Y	ENST00000262895	NM_002088.4	135	tCt/tAt	0	not done		probablydamaging	
GRIK5		inserm.fr	GRCh37	19	42566909	42566909	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000262895.3:c.342+1G>A		p.X114_splice	ENST00000262895	NM_002088.4			0	not done		damaging	
GRIK5		inserm.fr	GRCh37	19	42569863	42569863	+	synonymous_variant	Silent	SNP	C	T	T			CHC304T																					ENST00000262895.3:c.60G>A	p.Val20=	p.V20=	ENST00000262895	NM_002088.4	20	gtG/gtA	0	validated		synonymous	
ZNF574		inserm.fr	GRCh37	19	42584413	42584413	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1182T																					ENST00000600245.1:c.1655G>T	p.Arg552Leu	p.R552L	ENST00000600245		552	cGg/cTg	0	not done		probablydamaging	
ATP8A1		inserm.fr	GRCh37	4	42596349	42596349	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000381668.5:c.451-3448G>A		*151*	ENST00000381668	NM_006095.2			0	not done			
SEC22C		inserm.fr	GRCh37	3	42599070	42599070	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000264454.3:c.645G>A	p.Gln215=	p.Q215=	ENST00000264454		215	caG/caA	0	not done		damaging	
TOX2		inserm.fr	GRCh37	20	42602042	42602042	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000341197.4:c.135C>T	p.Asp45=	p.D45=	ENST00000341197	NM_001098797.1	45	gaC/gaT	0	not done		synonymous	
TCF20		inserm.fr	GRCh37	22	42606757	42606757	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000359486.3:c.4555G>A	p.Val1519Met	p.V1519M	ENST00000359486	NM_005650.2	1519	Gtg/Atg	0	not done		benign	
TCF20		inserm.fr	GRCh37	22	42606964	42606964	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1594T																					ENST00000359486.3:c.4348C>A	p.His1450Asn	p.H1450N	ENST00000359486	NM_005650.2	1450	Cat/Aat	0	not done		benign	
BACE2		inserm.fr	GRCh37	21	42609636	42609636	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1720T																					ENST00000330333.6:c.598G>T	p.Ala200Ser	p.A200S	ENST00000330333	NM_012105.4	200	Gct/Tct	0	not done		probablydamaging	
TCF20		inserm.fr	GRCh37	22	42609956	42609956	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000359486.3:c.1356G>A	p.Gly452=	p.G452=	ENST00000359486	NM_005650.2	452	ggG/ggA	0	not done		synonymous	
CHRNA6		inserm.fr	GRCh37	8	42611100	42611100	+	synonymous_variant	Silent	SNP	C	T	T			CHC1085T																					ENST00000276410.2:c.1242G>A	p.Gln414=	p.Q414=	ENST00000276410	NM_004198.3	414	caG/caA	0	validated		synonymous	
YAF2		inserm.fr	GRCh37	12	42629785	42629785	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000442791.3:c.152+1616G>A		*51*	ENST00000442791	NM_001190979.1			0	not done			
TOX2		inserm.fr	GRCh37	20	42635230	42635230	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000341197.4:c.209C>T	p.Pro70Leu	p.P70L	ENST00000341197	NM_001098797.1	70	cCc/cTc	0	not done		probablydamaging	
FZD2		inserm.fr	GRCh37	17	42635302	42635302	+	synonymous_variant	Silent	SNP	G	T	T			CHC218T																					ENST00000315323.3:c.246G>T	p.Val82=	p.V82=	ENST00000315323	NM_001466.3	82	gtG/gtT	0	not done		synonymous	
UBR2		inserm.fr	GRCh37	6	42641863	42641863	+	splice_acceptor_variant	Splice_Site	SNP	G	T	T			CHC736T									Valid												ENST00000372899.1:c.4184-1G>T		p.X1395_splice	ENST00000372899	NM_015255.2			0	validated		damaging	
BACE2		inserm.fr	GRCh37	21	42647487	42647487	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1186T																					ENST00000330333.6:c.1493G>T	p.Arg498Leu	p.R498L	ENST00000330333	NM_012105.4	498	cGt/cTt	0	not done		benign	
KCNG3		inserm.fr	GRCh37	2	42671557	42671557	+	synonymous_variant	Silent	SNP	G	T	T			CHC1629T																					ENST00000306078.1:c.828C>A	p.Gly276=	p.G276=	ENST00000306078	NM_133329.5	276	ggC/ggA	0	not done		synonymous	
TMEM8A		inserm.fr	GRCh37	16	426719	426719	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000431232.2:c.729G>A	p.Val243=	p.V243=	ENST00000431232	NM_021259.2	243	gtG/gtA	0	not done		synonymous	
NKTR		inserm.fr	GRCh37	3	42680815	42680815	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC327T																					ENST00000232978.8:c.3619A>T	p.Ser1207Cys	p.S1207C	ENST00000232978	NM_005385.3	1207	Agt/Tgt	0	validated		benign	
LYAR		inserm.fr	GRCh37	4	4270343	4270343	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC121T									Valid												ENST00000343470.4:c.920-1G>A		p.X307_splice	ENST00000343470	NM_017816.2			0	validated		damaging	
DEDD2		inserm.fr	GRCh37	19	42703741	42703741	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1611T																					ENST00000595337.1:c.830G>A	p.Gly277Asp	p.G277D	ENST00000595337	NM_001270614.1	277	gGc/gAc	0	not done		probablydamaging	
GHR		inserm.fr	GRCh37	5	42711433	42711433	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM399T																					ENST00000230882.4:c.743A>T	p.Tyr248Phe	p.Y248F	ENST00000230882	NM_001242406.2	248	tAt/tTt	0	validated		benign	
GHR		inserm.fr	GRCh37	5	42719310	42719310	+	synonymous_variant	Silent	SNP	C	T	T			CHC2208T																					ENST00000230882.4:c.1701C>T	p.Ile567=	p.I567=	ENST00000230882	NM_001242406.2	567	atC/atT	0	not done		synonymous	
KCNG3		inserm.fr	GRCh37	2	42720224	42720224	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000306078.1:c.418G>A	p.Ala140Thr	p.A140T	ENST00000306078	NM_133329.5	140	Gcg/Acg	0	not done		benign	
SDK1		inserm.fr	GRCh37	7	4272926	4272926	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T									Valid												ENST00000404826.2:c.5867G>T	p.Arg1956Leu	p.R1956L	ENST00000404826	NM_152744.3	1956	cGg/cTg	0	validated		possiblydamaging	
HHATL		inserm.fr	GRCh37	3	42735214	42735214	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000441594.1:c.1143G>A	p.Gly381=	p.G381=	ENST00000441594	NM_020707.3	381	ggG/ggA	0	not done		synonymous	
C17orf104		inserm.fr	GRCh37	17	42744034	42744034	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM735T																					ENST00000409122.2:c.755C>T	p.Thr252Ile	p.T252I	ENST00000409122	NM_001145080.2	252	aCa/aTa	0	validated		benign	
JPH2		inserm.fr	GRCh37	20	42744446	42744446	+	synonymous_variant	Silent	SNP	C	T	T			CHC1065T																					ENST00000372980.3:c.1869G>A	p.Glu623=	p.E623=	ENST00000372980	NM_020433.4	623	gaG/gaA	0	validated		synonymous	
JPH2		inserm.fr	GRCh37	20	42744516	42744516	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1209T																					ENST00000372980.3:c.1799C>A	p.Ala600Asp	p.A600D	ENST00000372980	NM_020433.4	600	gCc/gAc	0	validated		benign	
JPH2		inserm.fr	GRCh37	20	42747155	42747155	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1715T																					ENST00000372980.3:c.1278C>A	p.Phe426Leu	p.F426L	ENST00000372980	NM_020433.4	426	ttC/ttA	0	not done		probablydamaging	
MX2		inserm.fr	GRCh37	21	42748988	42748988	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000330714.3:c.155C>T	p.Ala52Val	p.A52V	ENST00000330714	NM_002463.1	52	gCa/gTa	0	not done		benign	
JPH2		inserm.fr	GRCh37	20	42788971	42788971	+	synonymous_variant	Silent	SNP	G	T	T			CHC1611T																					ENST00000372980.3:c.456C>A	p.Ala152=	p.A152=	ENST00000372980	NM_020433.4	152	gcC/gcA	0	not done		synonymous	
GLTSCR1L		inserm.fr	GRCh37	6	42796381	42796381	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC917T																					ENST00000314073.5:c.310G>T	p.Asp104Tyr	p.D104Y	ENST00000314073		104	Gac/Tac	0	validated		probablydamaging	
DGKH		inserm.fr	GRCh37	13	42803253	42803253	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2362T																					ENST00000337343.4:c.3592G>T	p.Val1198Leu	p.V1198L	ENST00000337343	NM_178009.3	1198	Gtg/Ttg	0	validated		probablydamaging	
DBF4B		inserm.fr	GRCh37	17	42824808	42824808	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1556T																					ENST00000315005.3:c.989A>T	p.Tyr330Phe	p.Y330F	ENST00000315005	NM_145663.2	330	tAt/tTt	0	not done		probablydamaging	
OSER1		inserm.fr	GRCh37	20	42826340	42826340	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000372970.2:c.231G>A	p.Gln77=	p.Q77=	ENST00000372970		77	caG/caA	0	not done		synonymous	
MEGF8		inserm.fr	GRCh37	19	42837916	42837916	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000334370.4:c.347G>T	p.Gly116Val	p.G116V	ENST00000334370	NM_001410.2	116	gGc/gTc	0	not done		probablydamaging	
MEGF8		inserm.fr	GRCh37	19	42840169	42840169	+	synonymous_variant	Silent	SNP	C	T	T			CHC1592T																					ENST00000334370.4:c.915C>T	p.Asn305=	p.N305=	ENST00000334370	NM_001410.2	305	aaC/aaT	0	not done		synonymous	
TMPRSS2		inserm.fr	GRCh37	21	42840466	42840466	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC1183T																					ENST00000398585.3:c.1283-1G>A		p.X428_splice	ENST00000398585	NM_001135099.1			0	not done		damaging	
SHD		inserm.fr	GRCh37	19	4284858	4284858	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000543264.2:c.673C>T	p.Pro225Ser	p.P225S	ENST00000543264	NM_020209.3	225	Cct/Tct	0	validated		benign	
PRICKLE1		inserm.fr	GRCh37	12	42853732	42853732	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000455697.1:c.2375C>A	p.Ala792Asp	p.A792D	ENST00000455697	NM_001144883.1	792	gCc/gAc	0	not done		benign	
PRICKLE1		inserm.fr	GRCh37	12	42853872	42853872	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC304T																					ENST00000455697.1:c.2235C>A	p.Asn745Lys	p.N745K	ENST00000455697	NM_001144883.1	745	aaC/aaA	0	validated		benign	
MEGF8		inserm.fr	GRCh37	19	42859972	42859972	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB157T																					ENST00000334370.4:c.4006G>T	p.Gly1336Cys	p.G1336C	ENST00000334370	NM_001410.2	1336	Ggc/Tgc	0	validated		probablydamaging	
MEGF8		inserm.fr	GRCh37	19	42860054	42860054	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1154T																					ENST00000334370.4:c.4088C>T	p.Ala1363Val	p.A1363V	ENST00000334370	NM_001410.2	1363	gCg/gTg	0	not done		probablydamaging	
MEGF8		inserm.fr	GRCh37	19	42860097	42860097	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000334370.4:c.4131C>T	p.Cys1377=	p.C1377=	ENST00000334370	NM_001410.2	1377	tgC/tgT	0	not done		synonymous	
HOOK3		inserm.fr	GRCh37	8	42863045	42863045	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1566T																					ENST00000307602.4:c.1711G>T	p.Asp571Tyr	p.D571Y	ENST00000307602	NM_032410.3	571	Gat/Tat	0	not done		probablydamaging	
AKAP11		inserm.fr	GRCh37	13	42877830	42877830	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC793T																					ENST00000025301.2:c.4948C>T	p.Leu1650Phe	p.L1650F	ENST00000025301	NM_016248.3	1650	Ctt/Ttt	0	validated		benign	
GJC1		inserm.fr	GRCh37	17	42883020	42883020	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1041T																					ENST00000426548.1:c.166G>A	p.Glu56Lys	p.E56K	ENST00000426548	NM_001080383.1	56	Gaa/Aaa	0	validated		benign	
PTCRA		inserm.fr	GRCh37	6	42893211	42893211	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000304672.1:c.637C>T	p.Pro213Ser	p.P213S	ENST00000304672	NM_001243168.1	213	Ccc/Tcc	0	not done		benign	
LIPE		inserm.fr	GRCh37	19	42907171	42907171	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC909T																					ENST00000244289.4:c.2555G>A	p.Arg852His	p.R852H	ENST00000244289	NM_005357.2	852	cGc/cAc	0	not done		probablydamaging	
GNMT		inserm.fr	GRCh37	6	42930849	42930849	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000372808.3:c.491C>T	p.Ala164Val	p.A164V	ENST00000372808	NM_018960.4	164	gCg/gTg	0	validated		possiblydamaging	
STARD9		inserm.fr	GRCh37	15	42961461	42961461	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000290607.7:c.1423G>T	p.Asp475Tyr	p.D475Y	ENST00000290607	NM_020759.2	475	Gac/Tac	0	not done			
R3HDML		inserm.fr	GRCh37	20	42973959	42973959	+	synonymous_variant	Silent	SNP	C	T	T			CHC306T																					ENST00000217043.2:c.570C>T	p.Ile190=	p.I190=	ENST00000217043	NM_178491.3	190	atC/atT	0	validated		synonymous	
MEA1		inserm.fr	GRCh37	6	42981537	42981537	+	synonymous_variant	Silent	SNP	C	T	T			CHC1597T																					ENST00000244711.3:c.15G>A	p.Arg5=	p.R5=	ENST00000244711	NM_014623.2	5	agG/agA	0	validated		synonymous	
STARD9		inserm.fr	GRCh37	15	42983721	42983721	+	synonymous_variant	Silent	SNP	C	T	T			BCM337T																					ENST00000290607.7:c.9945C>T	p.Pro3315=	p.P3315=	ENST00000290607	NM_020759.2	3315	ccC/ccT	0	validated		synonymous	
DIP2C		inserm.fr	GRCh37	10	430049	430049	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000280886.6:c.1794G>A	p.Trp598Ter	p.W598*	ENST00000280886	NM_014974.2	598	tgG/tgA	0	not done		damaging	
STARD9		inserm.fr	GRCh37	15	43009961	43009961	+	synonymous_variant	Silent	SNP	C	T	T			CHC1720T																					ENST00000290607.7:c.13527C>T	p.Asn4509=	p.N4509=	ENST00000290607	NM_020759.2	4509	aaC/aaT	0	not done		synonymous	
KIF18B		inserm.fr	GRCh37	17	43010347	43010347	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000593135.1:c.1070G>A	p.Ser357Asn	p.S357N	ENST00000593135	NM_001265577.1	357	aGc/aAc	0	not done		benign	
HAAO		inserm.fr	GRCh37	2	43010498	43010498	+	synonymous_variant	Silent	SNP	C	T	T			CHC1182T																					ENST00000294973.6:c.306G>A	p.Leu102=	p.L102=	ENST00000294973	NM_012205.2	102	ctG/ctA	0	not done		synonymous	
CEACAM1		inserm.fr	GRCh37	19	43013339	43013339	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000161559.6:c.1503G>A	p.Gln501=	p.Q501=	ENST00000161559	NM_001712.4	501	caG/caA	0	not done		synonymous	
CUL7		inserm.fr	GRCh37	6	43015955	43015955	+	synonymous_variant	Silent	SNP	C	T	T			CHC923T																					ENST00000535468.1:c.2352G>A	p.Leu784=	p.L784=	ENST00000535468	NM_014780.4	784	ctG/ctA	0	not done		synonymous	
CDAN1		inserm.fr	GRCh37	15	43022080	43022080	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM567T																					ENST00000356231.3:c.2266C>A	p.Pro756Thr	p.P756T	ENST00000356231	NM_138477.2	756	Ccc/Acc	0	validated		probablydamaging	
GRXCR1		inserm.fr	GRCh37	4	43022405	43022405	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1725T																					ENST00000399770.2:c.662G>T	p.Gly221Val	p.G221V	ENST00000399770	NM_001080476.2	221	gGa/gTa	0	not done		probablydamaging	
CEACAM1		inserm.fr	GRCh37	19	43025454	43025454	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000161559.6:c.923G>A	p.Cys308Tyr	p.C308Y	ENST00000161559	NM_001712.4	308	tGc/tAc	0	not done		benign	
HNF4A		inserm.fr	GRCh37	20	43030105	43030105	+	synonymous_variant	Silent	SNP	G	T	T			BCM543T																					ENST00000316099.4:c.93G>T	p.Val31=	p.V31=	ENST00000316099	NM_001258355.1	31	gtG/gtT	0	validated		synonymous	
HNF4A		inserm.fr	GRCh37	20	43030106	43030106	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCM543T									Valid												ENST00000316099.4:c.94C>T	p.Gln32Ter	p.Q32*	ENST00000316099	NM_001258355.1	32	Cag/Tag	0	validated		damaging	
TTBK2		inserm.fr	GRCh37	15	43038035	43038035	+	synonymous_variant	Silent	SNP	G	T	T			BCM399T																					ENST00000267890.6:c.3693C>A	p.Thr1231=	p.T1231=	ENST00000267890	NM_173500.3	1231	acC/acA	0	validated		synonymous	
KLC4		inserm.fr	GRCh37	6	43040571	43040571	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM399T									Valid												ENST00000259708.3:c.1552C>T	p.Pro518Ser	p.P518S	ENST00000259708	NM_201523.1	518	Cct/Tct	0	validated		possiblydamaging	
TTBK2		inserm.fr	GRCh37	15	43045112	43045112	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM321T																					ENST00000267890.6:c.2332G>A	p.Glu778Lys	p.E778K	ENST00000267890	NM_173500.3	778	Gaa/Aaa	0	validated		probablydamaging	
HNF4A		inserm.fr	GRCh37	20	43047103	43047103	+	synonymous_variant	Silent	SNP	G	T	T			CHC1736T																					ENST00000316099.4:c.687G>T	p.Leu229=	p.L229=	ENST00000316099	NM_001258355.1	229	ctG/ctT	0	not done		synonymous	
HGSNAT		inserm.fr	GRCh37	8	43052143	43052143	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB157T																					ENST00000379644.4:c.1517G>T	p.Arg506Leu	p.R506L	ENST00000379644	NM_152419.2	506	cGa/cTa	0	validated		probablydamaging	
FAM198A		inserm.fr	GRCh37	3	43073794	43073794	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1594T																					ENST00000430121.2:c.39G>T	p.Arg13Ser	p.R13S	ENST00000430121	NM_001129908.2	13	agG/agT	0	not done		probablydamaging	
PTK7		inserm.fr	GRCh37	6	43126698	43126698	+	synonymous_variant	Silent	SNP	G	T	T			CHC1751T																					ENST00000481273.1:c.2889G>T	p.Val963=	p.V963=	ENST00000481273	NM_001270398.1	963	gtG/gtT	0	not done		synonymous	
NMT1		inserm.fr	GRCh37	17	43138798	43138798	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1209T																					ENST00000592782.1:c.101A>T	p.Glu34Val	p.E34V	ENST00000592782		34	gAg/gTg	0	not done		possiblydamaging	
NMT1		inserm.fr	GRCh37	17	43138829	43138829	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC1603T																					ENST00000592782.1:c.131+1G>T		p.X44_splice	ENST00000592782				0	not done		possiblydamaging	
ZNF131		inserm.fr	GRCh37	5	43174622	43174622	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2052T																					ENST00000509634.1:c.1157A>T	p.Asn386Ile	p.N386I	ENST00000509634		386	aAc/aTc	0	not done		probablydamaging	
DNPH1		inserm.fr	GRCh37	6	43197153	43197153	+	synonymous_variant	Silent	SNP	C	T	T			CHC1183T																					ENST00000230431.6:c.42G>A	p.Glu14=	p.E14=	ENST00000230431	NM_006443.2	14	gaG/gaA	0	not done		synonymous	
POTEA		inserm.fr	GRCh37	8	43197360	43197360	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC703T																					ENST00000519951.2:n.1251C>T		*417*	ENST00000519951				0	validated		probablydamaging	
C1orf50		inserm.fr	GRCh37	1	43233002	43233002	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372525.5:c.20C>T	p.Pro7Leu	p.P7L	ENST00000372525	NM_024097.3	7	cCg/cTg	0	not done		benign	
SLC14A2		inserm.fr	GRCh37	18	43249406	43249406	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000255226.6:c.2172G>T	p.Leu724=	p.L724=	ENST00000255226	NM_007163.3	724	ctG/ctT	0	not done		synonymous	
ADA		inserm.fr	GRCh37	20	43251472	43251472	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC2127T																					ENST00000372874.4:c.778G>A	p.Glu260Lys	p.E260K	ENST00000372874	NM_000022.2	260	Gag/Aag	0	not done		probablydamaging	
PSG8		inserm.fr	GRCh37	19	43268294	43268294	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC796T									Valid												ENST00000306511.4:c.204C>A	p.Tyr68Ter	p.Y68*	ENST00000306511	NM_182707.2	68	taC/taA	0	validated		damaging	
PRDM15		inserm.fr	GRCh37	21	43279265	43279265	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000269844.3:c.1104G>A	p.Arg368=	p.R368=	ENST00000269844	NM_022115.3	368	agG/agA	0	not done		synonymous	
UBR1		inserm.fr	GRCh37	15	43296093	43296093	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1754T																					ENST00000290650.4:c.3451G>A	p.Ala1151Thr	p.A1151T	ENST00000290650	NM_174916.2	1151	Gca/Aca	0	not done		possiblydamaging	
STAP2		inserm.fr	GRCh37	19	4330059	4330059	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC1040T																					ENST00000600324.1:c.355-1G>A		p.X119_splice	ENST00000600324	NM_017720.2			0	not done		possiblydamaging	
ERMAP		inserm.fr	GRCh37	1	43304587	43304587	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC609T																					ENST00000372517.2:c.632C>T	p.Ala211Val	p.A211V	ENST00000372517	NM_001017922.1	211	gCt/gTt	0	validated		benign	
ZNF318		inserm.fr	GRCh37	6	43307759	43307759	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361428.2:c.3977G>A	p.Gly1326Glu	p.G1326E	ENST00000361428	NM_014345.2	1326	gGg/gAg	0	not done		probablydamaging	
FMNL1		inserm.fr	GRCh37	17	43318856	43318856	+	synonymous_variant	Silent	SNP	G	T	T			CHC1052T																					ENST00000331495.3:c.1440G>T	p.Val480=	p.V480=	ENST00000331495	NM_005892.3	480	gtG/gtT	0	validated		synonymous	
FMNL1		inserm.fr	GRCh37	17	43318984	43318984	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1041T																					ENST00000331495.3:c.1568C>T	p.Thr523Ile	p.T523I	ENST00000331495	NM_005892.3	523	aCc/aTc	0	validated		benign	
ZNF318		inserm.fr	GRCh37	6	43322697	43322697	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB151T																					ENST00000361428.2:c.2375G>A	p.Arg792Lys	p.R792K	ENST00000361428	NM_014345.2	792	aGg/aAg	0	validated		probablydamaging	
FMNL1		inserm.fr	GRCh37	17	43323940	43323940	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000331495.3:c.3280C>T	p.Leu1094=	p.L1094=	ENST00000331495	NM_005892.3	1094	Ctg/Ttg	0	not done		synonymous	
ZNF318		inserm.fr	GRCh37	6	43325441	43325441	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1742T																					ENST00000361428.2:c.611G>A	p.Arg204Gln	p.R204Q	ENST00000361428	NM_014345.2	204	cGa/cAa	0	not done		possiblydamaging	
UBR1		inserm.fr	GRCh37	15	43330408	43330408	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000290650.4:c.1872G>A	p.Arg624=	p.R624=	ENST00000290650	NM_174916.2	624	agG/agA	0	not done		synonymous	
ANO9		inserm.fr	GRCh37	11	433342	433342	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000332826.6:c.322G>A	p.Ala108Thr	p.A108T	ENST00000332826	NM_001012302.2	108	Gcg/Acg	0	validated		benign	
UBR1		inserm.fr	GRCh37	15	43351381	43351381	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000290650.4:c.995G>A	p.Arg332Lys	p.R332K	ENST00000290650	NM_174916.2	332	aGg/aAg	0	not done		benign	
API5		inserm.fr	GRCh37	11	43352087	43352087	+	synonymous_variant	Silent	SNP	A	T	T			BCM423T																					ENST00000531273.1:c.1251A>T	p.Ile417=	p.I417=	ENST00000531273		417	atA/atT	0	validated		synonymous	
C2CD2		inserm.fr	GRCh37	21	43362295	43362295	+	synonymous_variant	Silent	SNP	C	T	T			BCM711T																					ENST00000380486.3:c.339G>A	p.Val113=	p.V113=	ENST00000380486	NM_015500.1	113	gtG/gtA	0	validated		synonymous	
PSG1		inserm.fr	GRCh37	19	43372263	43372263	+	synonymous_variant	Silent	SNP	G	T	T			CHC1739T																					ENST00000244296.2:c.1233C>A	p.Val411=	p.V411=	ENST00000244296	NM_006905.2	411	gtC/gtA	0	not done		synonymous	
KCNK15		inserm.fr	GRCh37	20	43378939	43378939	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM543T																					ENST00000372861.3:c.453G>T	p.Trp151Cys	p.W151C	ENST00000372861	NM_022358.3	151	tgG/tgT	0	validated		probablydamaging	
SLC2A1		inserm.fr	GRCh37	1	43395384	43395384	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000426263.3:c.747G>A	p.Arg249=	p.R249=	ENST00000426263	NM_006516.2	249	cgG/cgA	0	not done		synonymous	
SLC2A1		inserm.fr	GRCh37	1	43396845	43396845	+	synonymous_variant	Silent	SNP	G	T	T			CHC1209T																					ENST00000426263.3:c.147C>A	p.Val49=	p.V49=	ENST00000426263	NM_006516.2	49	gtC/gtA	0	not done		synonymous	
SIGLEC15		inserm.fr	GRCh37	18	43405712	43405712	+	synonymous_variant	Silent	SNP	C	T	T			CHC469T																					ENST00000389474.3:c.19C>T	p.Leu7=	p.L7=	ENST00000389474	NM_213602.2	7	Ctg/Ttg	0	validated		synonymous	
ABCC10		inserm.fr	GRCh37	6	43413369	43413369	+	synonymous_variant	Silent	SNP	G	T	T			BCM711T																					ENST00000372530.4:c.3063G>T	p.Thr1021=	p.T1021=	ENST00000372530	NM_001198934.1	1021	acG/acT	0	validated		synonymous	
SIGLEC15		inserm.fr	GRCh37	18	43417493	43417493	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1753T																					ENST00000389474.3:c.128G>T	p.Arg43Leu	p.R43L	ENST00000389474	NM_213602.2	43	cGc/cTc	0	not done		probablydamaging	
AHRR		inserm.fr	GRCh37	5	434423	434423	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000316418.5:c.1634G>T	p.Cys545Phe	p.C545F	ENST00000316418	NM_020731.4	545	tGt/tTt	0	not done		possiblydamaging	
ZFP36L2		inserm.fr	GRCh37	2	43451580	43451580	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1205T																					ENST00000282388.3:c.1363G>A	p.Asp455Asn	p.D455N	ENST00000282388	NM_006887.4	455	Gac/Aac	0	validated		probablydamaging	
CCNDBP1		inserm.fr	GRCh37	15	43478040	43478040	+	synonymous_variant	Silent	SNP	C	T	T			CHC1616T																					ENST00000300213.4:c.132C>T	p.Thr44=	p.T44=	ENST00000300213	NM_012142.4	44	acC/acT	0	not done		synonymous	
YIPF3		inserm.fr	GRCh37	6	43483361	43483361	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1725T																					ENST00000372422.2:c.367G>A	p.Asp123Asn	p.D123N	ENST00000372422	NM_015388.3	123	Gat/Aat	0	not done		probablydamaging	
HECW1		inserm.fr	GRCh37	7	43484328	43484328	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1604T																					ENST00000395891.2:c.1557G>T	p.Glu519Asp	p.E519D	ENST00000395891	NM_015052.3	519	gaG/gaT	0	not done		benign	
EPB42		inserm.fr	GRCh37	15	43489592	43489592	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000300215.3:c.2074C>A	p.Gln692Lys	p.Q692K	ENST00000300215		692	Cag/Aag	0	not done		benign	
XPO5		inserm.fr	GRCh37	6	43492249	43492249	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2048T																					ENST00000265351.7:c.3437G>A	p.Arg1146Gln	p.R1146Q	ENST00000265351	NM_020750.2	1146	cGa/cAa	0	not done		probablydamaging	
SPNS3		inserm.fr	GRCh37	17	4350245	4350245	+	synonymous_variant	Silent	SNP	C	T	T			CHC306T																					ENST00000355530.2:c.609C>T	p.Arg203=	p.R203=	ENST00000355530	NM_182538.4	203	cgC/cgT	0	validated		synonymous	
UMODL1		inserm.fr	GRCh37	21	43522279	43522279	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000408989.2:c.1190C>T	p.Ala397Val	p.A397V	ENST00000408989	NM_173568.3	397	gCc/gTc	0	not done		probablydamaging	
TGM5		inserm.fr	GRCh37	15	43525450	43525450	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1745T																					ENST00000220420.5:c.2102G>A	p.Arg701Lys	p.R701K	ENST00000220420	NM_201631.3	701	aGa/aAa	0	not done		benign	
TGM5		inserm.fr	GRCh37	15	43525774	43525774	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1712T																					ENST00000220420.5:c.1987T>A	p.Phe663Ile	p.F663I	ENST00000220420	NM_201631.3	663	Ttc/Atc	0	not done		benign	
MCAT		inserm.fr	GRCh37	22	43529376	43529376	+	synonymous_variant	Silent	SNP	C	T	T			CHC1154T																					ENST00000290429.6:c.846G>A	p.Thr282=	p.T282=	ENST00000290429	NM_173467.4	282	acG/acA	0	not done		synonymous	
TGM5		inserm.fr	GRCh37	15	43552398	43552398	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000220420.5:c.288G>A	p.Gly96=	p.G96=	ENST00000220420	NM_201631.3	96	ggG/ggA	0	not done		synonymous	
TSPO		inserm.fr	GRCh37	22	43558886	43558886	+	synonymous_variant	Silent	SNP	C	T	T			CHC433T																					ENST00000329563.4:c.399C>T	p.Ala133=	p.A133=	ENST00000329563	NM_001256530.1	133	gcC/gcT	0	validated		benign	
SPNS3		inserm.fr	GRCh37	17	4356439	4356439	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1626T																					ENST00000355530.2:c.1052C>T	p.Ala351Val	p.A351V	ENST00000355530	NM_182538.4	351	gCc/gTc	0	not done		benign	
TGM7		inserm.fr	GRCh37	15	43584195	43584195	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC2103T																					ENST00000452443.2:c.540G>A	p.Trp180Ter	p.W180*	ENST00000452443	NM_052955.2	180	tgG/tgA	0	not done		damaging	
TGM7		inserm.fr	GRCh37	15	43585129	43585129	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000452443.2:c.217G>A	p.Gly73Arg	p.G73R	ENST00000452443	NM_052955.2	73	Ggg/Agg	0	not done		probablydamaging	
RET		inserm.fr	GRCh37	10	43604481	43604481	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC1010T																					ENST00000355710.3:c.1066C>T	p.Leu356=	p.L356=	ENST00000355710	NM_020975.4	356	Ctg/Ttg	0	not done		synonymous	
RET		inserm.fr	GRCh37	10	43609969	43609969	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000355710.3:c.1921G>T	p.Ala641Ser	p.A641S	ENST00000355710	NM_020975.4	641	Gct/Tct	0	not done		probablydamaging	
SCUBE1		inserm.fr	GRCh37	22	43610116	43610116	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000360835.4:c.2033G>A	p.Arg678His	p.R678H	ENST00000360835	NM_173050.3	678	cGc/cAc	0	validated		benign	
SCUBE1		inserm.fr	GRCh37	22	43617197	43617197	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1556T																					ENST00000360835.4:c.1531G>A	p.Ala511Thr	p.A511T	ENST00000360835	NM_173050.3	511	Gcc/Acc	0	not done		benign	
STK17A		inserm.fr	GRCh37	7	43623043	43623043	+	synonymous_variant	Silent	SNP	G	T	T			CHC322T																					ENST00000319357.5:c.201G>T	p.Leu67=	p.L67=	ENST00000319357	NM_004760.2	67	ctG/ctT	0	validated		synonymous	
EBNA1BP2		inserm.fr	GRCh37	1	43630476	43630476	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000431635.2:c.873G>A	p.Gly291=	p.G291=	ENST00000431635	NM_001159936.1	291	ggG/ggA	0	not done		damaging	
EBNA1BP2		inserm.fr	GRCh37	1	43638006	43638006	+	synonymous_variant	Silent	SNP	C	T	T			CHC902T																					ENST00000431635.2:c.87G>A	p.Pro29=	p.P29=	ENST00000431635	NM_001159936.1	29	ccG/ccA	0	not done		synonymous	
ADAL		inserm.fr	GRCh37	15	43643229	43643229	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM275T																					ENST00000428046.3:c.782C>T	p.Ser261Phe	p.S261F	ENST00000428046	NM_001159280.1	261	tCt/tTt	0	validated		benign	
WDR65		inserm.fr	GRCh37	1	43647470	43647470	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1205T																					ENST00000528956.1:c.423G>T	p.Gln141His	p.Q141H	ENST00000528956	NM_152498.3	141	caG/caT	0	not done		benign	
WDR65		inserm.fr	GRCh37	1	43650876	43650876	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC909T																					ENST00000528956.1:c.818C>T	p.Ala273Val	p.A273V	ENST00000528956	NM_152498.3	273	gCg/gTg	0	not done		benign	
SH3GL1		inserm.fr	GRCh37	19	4365539	4365539	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB325T									Valid												ENST00000269886.3:c.271G>A	p.Gly91Arg	p.G91R	ENST00000269886	NM_003025.3	91	Ggg/Agg	0	validated		probablydamaging	
MRPS18A		inserm.fr	GRCh37	6	43655510	43655510	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM397T																					ENST00000372133.3:c.7G>A	p.Ala3Thr	p.A3T	ENST00000372133	NM_018135.3	3	Gcc/Acc	0	validated		benign	
NNT		inserm.fr	GRCh37	5	43656777	43656777	+	synonymous_variant	Silent	SNP	C	T	T			CHC1743T																					ENST00000264663.5:c.2316C>T	p.Leu772=	p.L772=	ENST00000264663	NM_012343.3	772	ctC/ctT	0	not done		synonymous	
ZSCAN29		inserm.fr	GRCh37	15	43661230	43661230	+	synonymous_variant	Silent	SNP	C	T	T			BCM683T																					ENST00000396976.2:c.414G>A	p.Val138=	p.V138=	ENST00000396976	NM_152455.3	138	gtG/gtA	0	validated		synonymous	
WDR65		inserm.fr	GRCh37	1	43700008	43700008	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372492.4:c.3185C>T	p.Ala1062Val	p.A1062V	ENST00000372492	NM_001195831.2	1062	gCc/gTc	0	not done			
ABHD5		inserm.fr	GRCh37	3	43732523	43732523	+	synonymous_variant	Silent	SNP	C	T	T			BCM329T																					ENST00000458276.2:c.39C>T	p.Thr13=	p.T13=	ENST00000458276	NM_016006.4	13	acC/acT	0	validated		synonymous	
VEGFA		inserm.fr	GRCh37	6	43738869	43738869	+	upstream_gene_variant	5'Flank	SNP	C	T	T			CHC614T																								ENST00000523873				0	validated		synonymous	
WFDC5		inserm.fr	GRCh37	20	43739177	43739177	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000372789.4:c.231G>A	p.Lys77=	p.K77=	ENST00000372789	NM_145652.3	77	aaG/aaA	0	not done		synonymous	
WFDC5		inserm.fr	GRCh37	20	43739276	43739276	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372789.4:c.226G>A	p.Val76Met	p.V76M	ENST00000372789	NM_145652.3	76	Gtg/Atg	0	not done		probablydamaging	
C1orf210		inserm.fr	GRCh37	1	43748563	43748563	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1629T																					ENST00000523677.1:c.235C>A	p.Gln79Lys	p.Q79K	ENST00000523677	NM_182517.2	79	Cag/Aag	0	not done		benign	
WFDC12		inserm.fr	GRCh37	20	43752794	43752794	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000372785.3:c.192G>A	p.Leu64=	p.L64=	ENST00000372785	NM_080869.1	64	ctG/ctA	0	not done		synonymous	
ABHD5		inserm.fr	GRCh37	3	43753244	43753244	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCM723T																					ENST00000458276.2:c.550C>T	p.Arg184Ter	p.R184*	ENST00000458276	NM_016006.4	184	Cga/Tga	0	validated		damaging	
PSG9		inserm.fr	GRCh37	19	43763202	43763202	+	synonymous_variant	Silent	SNP	C	T	T			CHC326T																					ENST00000270077.3:c.795G>A	p.Lys265=	p.K265=	ENST00000270077	NM_002784.3	265	aaG/aaA	0	validated		synonymous	
ADAMTS20		inserm.fr	GRCh37	12	43769898	43769898	+	synonymous_variant	Silent	SNP	G	T	T			CHC794T																					ENST00000389420.3:c.5274C>A	p.Val1758=	p.V1758=	ENST00000389420	NM_025003.3	1758	gtC/gtA	0	validated		synonymous	
ADAMTS20		inserm.fr	GRCh37	12	43771234	43771234	+	synonymous_variant	Silent	SNP	A	T	T			CHC1715T																					ENST00000389420.3:c.4929T>A	p.Ser1643=	p.S1643=	ENST00000389420	NM_025003.3	1643	tcT/tcA	0	not done		synonymous	
TIE1		inserm.fr	GRCh37	1	43788324	43788324	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC1743T																					ENST00000372476.3:c.3348C>T	p.Ala1116=	p.A1116=	ENST00000372476	NM_005424.4	1116	gcC/gcT	0	not done		synonymous	
THADA		inserm.fr	GRCh37	2	43801740	43801740	+	synonymous_variant	Silent	SNP	C	T	T			CHC794T																					ENST00000405006.4:c.1464G>A	p.Gln488=	p.Q488=	ENST00000405006	NM_001083953.1	488	caG/caA	0	validated		synonymous	
MAP1A		inserm.fr	GRCh37	15	43814680	43814680	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC205T									Valid												ENST00000300231.5:c.1009C>T	p.Arg337Trp	p.R337W	ENST00000300231		337	Cgg/Tgg	0	validated		probablydamaging	
MAP1A		inserm.fr	GRCh37	15	43817180	43817180	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000300231.5:c.3509C>T	p.Pro1170Leu	p.P1170L	ENST00000300231		1170	cCc/cTc	0	not done		benign	
MAP1A		inserm.fr	GRCh37	15	43818781	43818781	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000300231.5:c.5110C>T	p.Arg1704Trp	p.R1704W	ENST00000300231		1704	Cgg/Tgg	0	not done		probablydamaging	
SPNS3		inserm.fr	GRCh37	17	4381920	4381920	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000355530.2:c.1167C>T	p.Ala389=	p.A389=	ENST00000355530	NM_182538.4	389	gcC/gcT	0	validated		synonymous	
ADAMTS20		inserm.fr	GRCh37	12	43819388	43819388	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM567T																					ENST00000389420.3:c.4213C>A	p.Pro1405Thr	p.P1405T	ENST00000389420	NM_025003.3	1405	Cct/Act	0	validated		possiblydamaging	
MAP1A		inserm.fr	GRCh37	15	43821170	43821170	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC879T																					ENST00000300231.5:c.7499C>T	p.Pro2500Leu	p.P2500L	ENST00000300231		2500	cCt/cTt	0	not done		probablydamaging	
ADAMTS20		inserm.fr	GRCh37	12	43856794	43856794	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1534T																					ENST00000389420.3:c.1518C>A	p.Cys506Ter	p.C506*	ENST00000389420	NM_025003.3	506	tgC/tgA	0	validated		damaging	
CNTNAP3B		inserm.fr	GRCh37	9	43861040	43861040	+	synonymous_variant	Silent	SNP	C	T	T			CHC1185T																					ENST00000377564.3:c.1914C>T	p.Pro638=	p.P638=	ENST00000377564	NM_001201380.1	638	ccC/ccT	0	validated		synonymous	
CD177		inserm.fr	GRCh37	19	43864544	43864544	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	G	T	T			CHC805T																					ENST00000457794.2:c.*455G>T		*152*	ENST00000457794				0	not done		synonymous	
UBASH3A		inserm.fr	GRCh37	21	43867233	43867233	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000319294.6:c.1915C>T	p.Pro639Ser	p.P639S	ENST00000319294	NM_018961.3	639	Cca/Tca	0	not done		probablydamaging	
CRHR1		inserm.fr	GRCh37	17	43893849	43893849	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1725T																					ENST00000398285.3:c.142G>T	p.Val48Leu	p.V48L	ENST00000398285	NM_001145146.1	48	Gtg/Ttg	0	not done		benign	
OR52B4		inserm.fr	GRCh37	11	4389405	4389405	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1744T																					ENST00000408920.2:c.121C>A	p.Leu41Ile	p.L41I	ENST00000408920	NM_001005161.3	41	Ctt/Att	0	not done		benign	
RSPH1		inserm.fr	GRCh37	21	43896128	43896128	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000291536.3:c.757G>A	p.Ala253Thr	p.A253T	ENST00000291536	NM_080860.2	253	Gct/Act	0	not done		benign	
STRC		inserm.fr	GRCh37	15	43896579	43896579	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1201T																					ENST00000450892.2:c.4198G>A	p.Ala1400Thr	p.A1400T	ENST00000450892	NM_153700.2	1400	Gca/Aca	0	validated		probablydamaging	
SPNS3		inserm.fr	GRCh37	17	4389722	4389722	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1594T																					ENST00000355530.2:c.1294C>T	p.Arg432Trp	p.R432W	ENST00000355530	NM_182538.4	432	Cgg/Tgg	0	not done		probablydamaging	
RSPH1		inserm.fr	GRCh37	21	43905880	43905880	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000291536.3:c.400G>A	p.Gly134Ser	p.G134S	ENST00000291536	NM_080860.2	134	Ggc/Agc	0	not done		probablydamaging	
URGCP		inserm.fr	GRCh37	7	43916966	43916966	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000453200.1:c.2096G>A	p.Gly699Glu	p.G699E	ENST00000453200		699	gGg/gAg	0	not done		probablydamaging	
ENOX1		inserm.fr	GRCh37	13	43918862	43918862	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1708T																					ENST00000261488.6:c.848T>A	p.Ile283Asn	p.I283N	ENST00000261488	NM_017993.3	283	aTc/aAc	0	not done		benign	
SPPL2C		inserm.fr	GRCh37	17	43922642	43922642	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM397T																					ENST00000329196.5:c.370G>T	p.Val124Phe	p.V124F	ENST00000329196	NM_175882.2	124	Gtc/Ttc	0	validated		possiblydamaging	
ADAMTS20		inserm.fr	GRCh37	12	43925983	43925983	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000389420.3:c.469G>A	p.Gly157Arg	p.G157R	ENST00000389420	NM_025003.3	157	Gga/Aga	0	not done		benign	
MATN4		inserm.fr	GRCh37	20	43926689	43926689	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000537548.1:c.1448G>A	p.Gly483Asp	p.G483D	ENST00000537548	NM_003833.4	483	gGc/gAc	0	not done		probablydamaging	
MATN4		inserm.fr	GRCh37	20	43926857	43926857	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC909T																					ENST00000537548.1:c.1379G>A	p.Arg460His	p.R460H	ENST00000537548	NM_003833.4	460	cGc/cAc	0	not done		probablydamaging	
ENOX1		inserm.fr	GRCh37	13	43930089	43930089	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000261488.6:c.789G>A	p.Glu263=	p.E263=	ENST00000261488	NM_017993.3	263	gaG/gaA	0	not done		synonymous	
RBPJL		inserm.fr	GRCh37	20	43943176	43943176	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000343694.3:c.991C>T	p.Leu331Phe	p.L331F	ENST00000343694	NM_001281449.1	331	Ctt/Ttt	0	not done		probablydamaging	
C11orf96		inserm.fr	GRCh37	11	43963971	43963971	+	synonymous_variant	Silent	SNP	C	T	T			CHC703T																					ENST00000339446.3:c.456C>T	p.Ser152=	p.S152=	ENST00000339446		152	tcC/tcT	0	not done		synonymous	
SLC37A1		inserm.fr	GRCh37	21	43994977	43994977	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1035T									Valid												ENST00000352133.2:c.1473G>T	p.Trp491Cys	p.W491C	ENST00000352133		491	tgG/tgT	0	validated		probablydamaging	
EFCAB6		inserm.fr	GRCh37	22	43995984	43995984	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000262726.7:c.2841G>A	p.Glu947=	p.E947=	ENST00000262726	NM_022785.3	947	gaG/gaA	0	not done		synonymous	
EFCAB6		inserm.fr	GRCh37	22	43996122	43996122	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000262726.7:c.2703G>A	p.Gly901=	p.G901=	ENST00000262726	NM_022785.3	901	ggG/ggA	0	not done		synonymous	
SPDYE1		inserm.fr	GRCh37	7	44043475	44043475	+	synonymous_variant	Silent	SNP	C	T	T			CHC429T																					ENST00000258704.3:c.511C>T	p.Leu171=	p.L171=	ENST00000258704	NM_175064.2	171	Ctg/Ttg	0	validated		synonymous	
ABCG5		inserm.fr	GRCh37	2	44051516	44051516	+	synonymous_variant	Silent	SNP	C	T	T			CHC1747T																					ENST00000260645.1:c.960G>A	p.Lys320=	p.K320=	ENST00000260645	NM_022436.2	320	aaG/aaA	0	not done		synonymous	
LOXHD1		inserm.fr	GRCh37	18	44057808	44057808	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1192T																					ENST00000300591.6:c.3116G>A	p.Ser1039Asn	p.S1039N	ENST00000300591	NM_001145472.2	1039	aGc/aAc	0	not done		possiblydamaging	
TRIM21		inserm.fr	GRCh37	11	4406583	4406583	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2321T																					ENST00000254436.7:c.1360G>A	p.Gly454Arg	p.G454R	ENST00000254436	NM_003141.3	454	Gga/Aga	0	validated		probablydamaging	
CHL1		inserm.fr	GRCh37	3	440796	440796	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM531T																					ENST00000256509.2:c.3350G>T	p.Cys1117Phe	p.C1117F	ENST00000256509	NM_001253388.1	1117	tGc/tTc	0	validated		probablydamaging	
PTPRF		inserm.fr	GRCh37	1	44085490	44085490	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000359947.4:c.5072G>T	p.Gly1691Val	p.G1691V	ENST00000359947	NM_002840.3	1691	gGc/gTc	0	not done		probablydamaging	
CHAF1A		inserm.fr	GRCh37	19	4408918	4408918	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1028T																					ENST00000301280.5:c.122G>T	p.Arg41Leu	p.R41L	ENST00000301280	NM_005483.2	41	cGc/cTc	0	not done		possiblydamaging	
IRGQ		inserm.fr	GRCh37	19	44096964	44096964	+	synonymous_variant	Silent	SNP	C	T	T			BCM275T																					ENST00000422989.1:c.1086G>A	p.Leu362=	p.L362=	ENST00000422989	NM_001007561.2	362	ttG/ttA	0	validated		synonymous	
TMEM63B		inserm.fr	GRCh37	6	44108819	44108819	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM337T																					ENST00000259746.9:c.766A>T	p.Ile256Phe	p.I256F	ENST00000259746		256	Atc/Ttc	0	validated		probablydamaging	
PDE9A		inserm.fr	GRCh37	21	44119122	44119122	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC898T																					ENST00000291539.6:c.262+1G>T		p.X88_splice	ENST00000291539	NM_002606.2			0	not done		possiblydamaging	
POLM		inserm.fr	GRCh37	7	44121992	44121992	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1010T																					ENST00000242248.5:c.46G>A	p.Asp16Asn	p.D16N	ENST00000242248	NM_013284.2	16	Gat/Aat	0	not done		benign	
LOXHD1		inserm.fr	GRCh37	18	44125346	44125346	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000300591.6:c.220G>A	p.Val74Ile	p.V74I	ENST00000300591	NM_001145472.2	74	Gtt/Att	0	not done		benign	
LRPPRC		inserm.fr	GRCh37	2	44126738	44126738	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC889T																					ENST00000260665.7:c.3576C>A	p.Asn1192Lys	p.N1192K	ENST00000260665	NM_133259.3	1192	aaC/aaA	0	not done		benign	
CAPN11		inserm.fr	GRCh37	6	44137158	44137158	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1714T																					ENST00000398776.1:c.229G>T	p.Gly77Trp	p.G77W	ENST00000398776	NM_007058.3	77	Ggg/Tgg	0	not done		probablydamaging	
LOXHD1		inserm.fr	GRCh37	18	44137408	44137408	+	5_prime_UTR_variant	5'UTR	SNP	G	T	T			CHC1040T																					ENST00000300591.6:c.-73C>A		*25*	ENST00000300591	NM_001145472.2			0	not done		synonymous	
LOXHD1		inserm.fr	GRCh37	18	44139537	44139537	+	upstream_gene_variant	5'Flank	SNP	C	T	T			CHC1746T																								ENST00000300591	NM_001145472.2			0	not done		synonymous	
LOXHD1		inserm.fr	GRCh37	18	44140058	44140058	+	upstream_gene_variant	5'Flank	SNP	G	T	T			CHC1742T																								ENST00000300591	NM_001145472.2			0	not done		benign	
AEBP1		inserm.fr	GRCh37	7	44144357	44144357	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000223357.3:c.93C>T	p.Asp31=	p.D31=	ENST00000223357	NM_001129.4	31	gaC/gaT	0	validated		synonymous	
KANSL1		inserm.fr	GRCh37	17	44144963	44144963	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1531T																					ENST00000262419.6:c.1604C>A	p.Ser535Tyr	p.S535Y	ENST00000262419	NM_001193466.1	535	tCt/tAt	0	not done		probablydamaging	
AEBP1		inserm.fr	GRCh37	7	44146238	44146238	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM275T																					ENST00000223357.3:c.347C>T	p.Pro116Leu	p.P116L	ENST00000223357	NM_001129.4	116	cCg/cTg	0	validated		benign	
CAPN11		inserm.fr	GRCh37	6	44150680	44150680	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC2034T																					ENST00000398776.1:c.1941C>T	p.Asp647=	p.D647=	ENST00000398776	NM_007058.3	647	gaC/gaT	0	not done		synonymous	
KDM4A		inserm.fr	GRCh37	1	44156717	44156717	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1568T																					ENST00000372396.3:c.2239G>T	p.Ala747Ser	p.A747S	ENST00000372396	NM_014663.2	747	Gcc/Tcc	0	not done		benign	
SPNS2		inserm.fr	GRCh37	17	4416607	4416607	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1626T																					ENST00000329078.3:c.436G>T	p.Val146Leu	p.V146L	ENST00000329078	NM_001124758.1	146	Gtg/Ttg	0	not done		possiblydamaging	
EFHC2		inserm.fr	GRCh37	X	44171924	44171924	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1753T																					ENST00000420999.1:c.121C>A	p.Pro41Thr	p.P41T	ENST00000420999	NM_025184.3	41	Cct/Act	0	not done		probablydamaging	
LRPPRC		inserm.fr	GRCh37	2	44175593	44175593	+	synonymous_variant	Silent	SNP	C	T	T			CHC2052T																					ENST00000260665.7:c.1800G>A	p.Lys600=	p.K600=	ENST00000260665	NM_133259.3	600	aaG/aaA	0	not done		synonymous	
IRAK4		inserm.fr	GRCh37	12	44176123	44176123	+	synonymous_variant	Silent	SNP	C	T	T			CHC1055T																					ENST00000448290.2:c.955C>T	p.Leu319=	p.L319=	ENST00000448290	NM_016123.3	319	Ctg/Ttg	0	validated		synonymous	
KCTD8		inserm.fr	GRCh37	4	44176855	44176855	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000360029.3:c.1374G>A	p.Glu458=	p.E458=	ENST00000360029	NM_198353.2	458	gaG/gaA	0	not done		synonymous	
KCTD8		inserm.fr	GRCh37	4	44177087	44177087	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1044T																					ENST00000360029.3:c.1142C>A	p.Ala381Asp	p.A381D	ENST00000360029	NM_198353.2	381	gCt/gAt	0	not done		possiblydamaging	
GCK		inserm.fr	GRCh37	7	44191883	44191883	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000345378.2:c.353G>A	p.Gly118Asp	p.G118D	ENST00000345378	NM_033507.1	118	gGc/gAc	0	not done		probablydamaging	
FRMD5		inserm.fr	GRCh37	15	44216404	44216404	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000417257.1:c.206G>A	p.Arg69Gln	p.R69Q	ENST00000417257	NM_032892.3	69	cGg/cAg	0	validated		probablydamaging	
LOXHD1		inserm.fr	GRCh37	18	44219717	44219717	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1712T																					ENST00000441551.2:c.373C>A	p.His125Asn	p.H125N	ENST00000441551		125	Cat/Aat	0	not done		benign	
IRGC		inserm.fr	GRCh37	19	44223536	44223536	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1207T																					ENST00000244314.5:c.826G>T	p.Val276Phe	p.V276F	ENST00000244314	NM_019612.3	276	Gtc/Ttc	0	not done		probablydamaging	
IRGC		inserm.fr	GRCh37	19	44223753	44223753	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2029T																					ENST00000244314.5:c.1043C>T	p.Ser348Phe	p.S348F	ENST00000244314	NM_019612.3	348	tCc/tTc	0	not done		possiblydamaging	
GCK		inserm.fr	GRCh37	7	44228533	44228533	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000403799.3:c.20G>A	p.Arg7Lys	p.R7K	ENST00000403799	NM_000162.3	7	aGg/aAg	0	not done		probablydamaging	
LOXHD1		inserm.fr	GRCh37	18	44229139	44229139	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1602T																					ENST00000441551.2:c.224C>A	p.Pro75His	p.P75H	ENST00000441551		75	cCc/cAc	0	not done		probablydamaging	
LOXHD1		inserm.fr	GRCh37	18	44229187	44229187	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC451T																					ENST00000441551.2:c.176C>A	p.Thr59Lys	p.T59K	ENST00000441551		59	aCg/aAg	0	validated		probablydamaging	
SMG9		inserm.fr	GRCh37	19	44235796	44235796	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000270066.6:c.1515G>A	p.Gly505=	p.G505=	ENST00000270066	NM_019108.2	505	ggG/ggA	0	not done		synonymous	
TMEM151B		inserm.fr	GRCh37	6	44241039	44241039	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000451188.2:c.372C>T	p.Tyr124=	p.Y124=	ENST00000451188	NM_001137560.1	124	taC/taT	0	not done		synonymous	
SMG9		inserm.fr	GRCh37	19	44249024	44249024	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1774T																					ENST00000270066.6:c.601C>A	p.Gln201Lys	p.Q201K	ENST00000270066	NM_019108.2	201	Cag/Aag	0	validated		possiblydamaging	
EXT2		inserm.fr	GRCh37	11	44255695	44255695	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1603T																					ENST00000395673.3:c.1936C>T	p.Pro646Ser	p.P646S	ENST00000395673	NM_000401.3	646	Cct/Tct	0	not done		probablydamaging	
ST8SIA5		inserm.fr	GRCh37	18	44260100	44260100	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM483T									Valid												ENST00000315087.7:c.1036G>A	p.Gly346Ser	p.G346S	ENST00000315087	NM_013305.4	346	Ggc/Agc	0	validated		probablydamaging	
KCNN4		inserm.fr	GRCh37	19	44276183	44276183	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000262888.3:c.788G>A	p.Gly263Asp	p.G263D	ENST00000262888	NM_002250.2	263	gGc/gAc	0	not done		probablydamaging	
KCNN4		inserm.fr	GRCh37	19	44278593	44278593	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC097T																					ENST00000262888.3:c.434T>A	p.Leu145Gln	p.L145Q	ENST00000262888	NM_002250.2	145	cTg/cAg	0	not done		probablydamaging	
TOPAZ1		inserm.fr	GRCh37	3	44284872	44284872	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC465T									Valid												ENST00000309765.4:c.874A>T	p.Lys292Ter	p.K292*	ENST00000309765	NM_001145030.1	292	Aag/Tag	0	validated		damaging	
ALX4		inserm.fr	GRCh37	11	44286677	44286677	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC2127T																					ENST00000329255.3:c.963C>A	p.Cys321Ter	p.C321*	ENST00000329255	NM_021926.3	321	tgC/tgA	0	not done		damaging	
LYPD5		inserm.fr	GRCh37	19	44301982	44301982	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000377950.3:c.518-1G>A		p.X173_splice	ENST00000377950	NM_001031749.2			0	not done		damaging	
TOPAZ1		inserm.fr	GRCh37	3	44310737	44310737	+	synonymous_variant	Silent	SNP	C	T	T			CHC1603T																					ENST00000309765.4:c.3190C>T	p.Leu1064=	p.L1064=	ENST00000309765	NM_001145030.1	1064	Cta/Tta	0	not done		synonymous	
CHAF1A		inserm.fr	GRCh37	19	4432202	4432202	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	T	T			CHC1747T									Valid												ENST00000301280.5:c.2201A>T	p.Gln734Leu	p.Q734L	ENST00000301280	NM_005483.2	734	cAg/cTg	0	validated		probablydamaging	
SPATS1		inserm.fr	GRCh37	6	44344131	44344131	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC433T									Valid												ENST00000288390.2:c.795G>T	p.Leu265Phe	p.L265F	ENST00000288390		265	ttG/ttT	0	validated		probablydamaging	
ZNF283		inserm.fr	GRCh37	19	44352377	44352377	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1720T																					ENST00000324461.7:c.1624C>T	p.Pro542Ser	p.P542S	ENST00000324461	NM_181845.1	542	Ccc/Tcc	0	not done		probablydamaging	
TCAIM		inserm.fr	GRCh37	3	44399724	44399724	+	intron_variant	Intron	SNP	A	T	T			CHC303T																					ENST00000342649.4:c.165+356A>T		*55*	ENST00000342649	NM_173826.3			0	validated			
WFDC3		inserm.fr	GRCh37	20	44417645	44417645	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000243938.4:c.136G>A	p.Gly46Ser	p.G46S	ENST00000243938	NM_080614.1	46	Ggt/Agt	0	not done		benign	
CCDC122		inserm.fr	GRCh37	13	44433943	44433943	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000444614.3:c.420G>A	p.Gly140=	p.G140=	ENST00000444614	NM_144974.3	140	ggG/ggA	0	not done		synonymous	
DPH2		inserm.fr	GRCh37	1	44437539	44437539	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1201T																					ENST00000255108.3:c.965C>T	p.Pro322Leu	p.P322L	ENST00000255108	NM_001384.4	322	cCc/cTc	0	not done		benign	
B4GALT2		inserm.fr	GRCh37	1	44446864	44446864	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1010T																					ENST00000309519.7:c.119G>T	p.Arg40Leu	p.R40L	ENST00000309519		40	cGc/cTc	0	not done		probablydamaging	
KCTD8		inserm.fr	GRCh37	4	44449976	44449976	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000360029.3:c.565G>A	p.Gly189Ser	p.G189S	ENST00000360029	NM_198353.2	189	Ggc/Agc	0	not done		benign	
KCTD8		inserm.fr	GRCh37	4	44450051	44450051	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1738T																					ENST00000360029.3:c.490G>A	p.Asp164Asn	p.D164N	ENST00000360029	NM_198353.2	164	Gac/Aac	0	not done		probablydamaging	
SNX21		inserm.fr	GRCh37	20	44463668	44463668	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2127T																					ENST00000491381.1:c.360G>T	p.Lys120Asn	p.K120N	ENST00000491381		120	aaG/aaT	0	not done		benign	
ZNF155		inserm.fr	GRCh37	19	44500476	44500476	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1743T																					ENST00000407951.2:c.500C>T	p.Ser167Phe	p.S167F	ENST00000407951	NM_001260488.1	167	tCc/tTc	0	not done		benign	
PARVB		inserm.fr	GRCh37	22	44514972	44514972	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1568T																					ENST00000406477.3:c.427C>T	p.Gln143Ter	p.Q143*	ENST00000406477	NM_001003828.2	143	Cag/Tag	0	not done		damaging	
NEURL2		inserm.fr	GRCh37	20	44517454	44517454	+	synonymous_variant	Silent	SNP	C	T	T			BCM325T																					ENST00000372518.4:c.801G>A	p.Leu267=	p.L267=	ENST00000372518	NM_001278535.1	267	ctG/ctA	0	validated		synonymous	
NPC1L1		inserm.fr	GRCh37	7	44553240	44553240	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1747T																					ENST00000289547.4:c.3886G>A	p.Val1296Ile	p.V1296I	ENST00000289547	NM_013389.2	1296	Gtt/Att	0	not done		benign	
NPC1L1		inserm.fr	GRCh37	7	44556371	44556371	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000289547.4:c.3531G>A	p.Val1177=	p.V1177=	ENST00000289547	NM_013389.2	1177	gtG/gtA	0	not done		synonymous	
ZNF223		inserm.fr	GRCh37	19	44570486	44570486	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1205T																					ENST00000434772.3:c.505A>T	p.Ile169Leu	p.I169L	ENST00000434772	NM_013361.4	169	Ata/Tta	0	not done		benign	
ZNF284		inserm.fr	GRCh37	19	44586178	44586178	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM683T																					ENST00000421176.3:c.155C>T	p.Ser52Phe	p.S52F	ENST00000421176	NM_001037813.2	52	tCc/tTc	0	validated		benign	
KLF17		inserm.fr	GRCh37	1	44595780	44595780	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1035T																					ENST00000372299.3:c.837G>T	p.Glu279Asp	p.E279D	ENST00000372299	NM_173484.3	279	gaG/gaT	0	validated		benign	
GGT6		inserm.fr	GRCh37	17	4461924	4461924	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC051T																					ENST00000574154.1:c.868G>A	p.Val290Met	p.V290M	ENST00000574154	NM_001288702.1	290	Gtg/Atg	0	validated		benign	
CD82		inserm.fr	GRCh37	11	44636887	44636887	+	synonymous_variant	Silent	SNP	C	T	T			CHC1545T																					ENST00000227155.4:c.402C>T	p.Asp134=	p.D134=	ENST00000227155	NM_002231.3	134	gaC/gaT	0	not done		synonymous	
MMP9		inserm.fr	GRCh37	20	44639662	44639662	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC121T									Valid												ENST00000372330.3:c.622G>T	p.Glu208Ter	p.E208*	ENST00000372330	NM_004994.2	208	Gag/Tag	0	validated		damaging	
MMP9		inserm.fr	GRCh37	20	44639829	44639829	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372330.3:c.697C>T	p.Pro233Ser	p.P233S	ENST00000372330	NM_004994.2	233	Ccc/Tcc	0	not done		probablydamaging	
MMP9		inserm.fr	GRCh37	20	44642027	44642027	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000372330.3:c.1464C>T	p.Pro488=	p.P488=	ENST00000372330	NM_004994.2	488	ccC/ccT	0	not done		synonymous	
SLC12A5		inserm.fr	GRCh37	20	44671894	44671894	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000454036.2:c.1238C>T	p.Pro413Leu	p.P413L	ENST00000454036	NM_001134771.1	413	cCt/cTt	0	not done		benign	
KIAA1644		inserm.fr	GRCh37	22	44681398	44681398	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000381176.4:c.509G>A	p.Gly170Asp	p.G170D	ENST00000381176	NM_001099294.1	170	gGc/gAc	0	not done		possiblydamaging	
NCOA5		inserm.fr	GRCh37	20	44695713	44695713	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC320T									Valid												ENST00000290231.6:c.610G>A	p.Val204Met	p.V204M	ENST00000290231	NM_020967.2	204	Gtg/Atg	0	validated		probablydamaging	
DUSP21		inserm.fr	GRCh37	X	44703684	44703684	+	synonymous_variant	Silent	SNP	G	T	T			BCM723T																					ENST00000339042.4:c.306G>T	p.Thr102=	p.T102=	ENST00000339042	NM_022076.3	102	acG/acT	0	validated		synonymous	
OR52K2		inserm.fr	GRCh37	11	4471215	4471215	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB151T																					ENST00000325719.4:c.646G>T	p.Val216Phe	p.V216F	ENST00000325719	NM_001005172.2	216	Gtt/Ttt	0	validated		possiblydamaging	
OGDH		inserm.fr	GRCh37	7	44714089	44714089	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM759T																					ENST00000222673.5:c.868C>T	p.Leu290Phe	p.L290F	ENST00000222673	NM_002541.3	290	Ctc/Ttc	0	validated		probablydamaging	
OGDH		inserm.fr	GRCh37	7	44735654	44735654	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1186T																					ENST00000222673.5:c.1699G>T	p.Glu567Ter	p.E567*	ENST00000222673	NM_002541.3	567	Gag/Tag	0	not done		damaging	
FGF23		inserm.fr	GRCh37	12	4479615	4479615	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000237837.1:c.650G>A	p.Ser217Asn	p.S217N	ENST00000237837	NM_020638.2	217	aGc/aAc	0	not done		benign	
ZNF112		inserm.fr	GRCh37	19	44832142	44832142	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1602T																					ENST00000337401.4:c.2186G>A	p.Gly729Asp	p.G729D	ENST00000337401	NM_001083335.1	729	gGc/gAc	0	not done		possiblydamaging	
ZNF112		inserm.fr	GRCh37	19	44832524	44832524	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000337401.4:c.1804G>A	p.Val602Ile	p.V602I	ENST00000337401	NM_001083335.1	602	Gtt/Att	0	not done		possiblydamaging	
CDH22		inserm.fr	GRCh37	20	44839056	44839056	+	synonymous_variant	Silent	SNP	G	T	T			CHC432T																					ENST00000372262.3:c.1176C>A	p.Pro392=	p.P392=	ENST00000372262		392	ccC/ccA	0	not done		synonymous	
KIF15		inserm.fr	GRCh37	3	44872484	44872484	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000326047.4:c.3145C>T	p.Leu1049=	p.L1049=	ENST00000326047	NM_020242.2	1049	Ctg/Ttg	0	not done		synonymous	
CXCL12		inserm.fr	GRCh37	10	44873218	44873218	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000395794.2:c.402G>A	p.Trp134Ter	p.W134*	ENST00000395794	NM_001178134.1	134	tgG/tgA	0	not done		damaging	
H2AFV		inserm.fr	GRCh37	7	44875179	44875179	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1598T																					ENST00000308153.4:c.274C>A	p.Arg92Ser	p.R92S	ENST00000308153	NM_012412.4	92	Cgt/Agt	0	not done		probablydamaging	
H2AFV		inserm.fr	GRCh37	7	44882875	44882875	+	splice_donor_variant	Splice_Site	SNP	C	T	T			BCM791T																					ENST00000308153.4:c.81+1G>A		p.X27_splice	ENST00000308153	NM_012412.4			0	validated		damaging	
TMEM42		inserm.fr	GRCh37	3	44903449	44903449	+	synonymous_variant	Silent	SNP	C	T	T			CHC923T																					ENST00000302392.4:c.33C>T	p.Ala11=	p.A11=	ENST00000302392	NM_144638.1	11	gcC/gcT	0	not done		synonymous	
KDM6A		inserm.fr	GRCh37	X	44913178	44913178	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1604T																					ENST00000377967.4:c.853C>T	p.Gln285Ter	p.Q285*	ENST00000377967	NM_021140.2	285	Cag/Tag	0	not done		damaging	
KDM6A		inserm.fr	GRCh37	X	44918541	44918541	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1700T																					ENST00000377967.4:c.1024A>T	p.Ile342Phe	p.I342F	ENST00000377967	NM_021140.2	342	Att/Ttt	0	not done		probablydamaging	
PURB		inserm.fr	GRCh37	7	44924032	44924032	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000395699.2:c.916G>A	p.Gly306Ser	p.G306S	ENST00000395699	NM_033224.3	306	Ggt/Agt	0	not done		possiblydamaging	
WNT9B		inserm.fr	GRCh37	17	44952547	44952547	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T									Valid												ENST00000290015.2:c.415C>T	p.Arg139Cys	p.R139C	ENST00000290015	NM_003396.1	139	Cgc/Tgc	0	validated		probablydamaging	
PATL2		inserm.fr	GRCh37	15	44961324	44961324	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1209T																					ENST00000434130.1:c.1078G>A	p.Gly360Ser	p.G360S	ENST00000434130	NM_001145112.1	360	Ggc/Agc	0	not done		benign	
ZDHHC3		inserm.fr	GRCh37	3	44968212	44968212	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000296127.3:c.953G>A	p.Gly318Glu	p.G318E	ENST00000296127	NM_016598.2	318	gGg/gAg	0	not done		benign	
ZDHHC3		inserm.fr	GRCh37	3	44974436	44974436	+	synonymous_variant	Silent	SNP	A	T	T			CHC1185T																					ENST00000296127.3:c.657T>A	p.Leu219=	p.L219=	ENST00000296127	NM_016598.2	219	ctT/ctA	0	not done		synonymous	
MYO1G		inserm.fr	GRCh37	7	45004669	45004669	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000258787.7:c.2401G>A	p.Val801Met	p.V801M	ENST00000258787	NM_033054.2	801	Gtg/Atg	0	not done		probablydamaging	
MYO1G		inserm.fr	GRCh37	7	45009431	45009431	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM265T																					ENST00000258787.7:c.1376G>A	p.Arg459Gln	p.R459Q	ENST00000258787	NM_033054.2	459	cGg/cAg	0	validated		benign	
CEACAM20		inserm.fr	GRCh37	19	45024552	45024552	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC909T																					ENST00000454753.1:n.1265G>A		*422*	ENST00000454753				0	not done		damaging	
CLEC3B		inserm.fr	GRCh37	3	45072356	45072356	+	synonymous_variant	Silent	SNP	C	T	T			CHC1746T																					ENST00000296130.4:c.147C>T	p.Ser49=	p.S49=	ENST00000296130	NM_003278.2	49	agC/agT	0	not done		synonymous	
SUMF1		inserm.fr	GRCh37	3	4508852	4508852	+	synonymous_variant	Silent	SNP	C	T	T			CHC1754T																					ENST00000272902.5:c.78G>A	p.Ser26=	p.S26=	ENST00000272902	NM_182760.3	26	tcG/tcA	0	not done		synonymous	
OR52K1		inserm.fr	GRCh37	11	4510740	4510740	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000307632.3:c.610G>T	p.Val204Leu	p.V204L	ENST00000307632	NM_001005171.2	204	Gtg/Ttg	0	not done		benign	
NELL2		inserm.fr	GRCh37	12	45108432	45108432	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC1915T									Valid												ENST00000437801.2:c.1236+1G>A		p.X412_splice	ENST00000437801	NM_001145107.1			0	validated		damaging	
NACAD		inserm.fr	GRCh37	7	45121983	45121983	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000490531.2:c.3796G>A	p.Gly1266Ser	p.G1266S	ENST00000490531	NM_001146334.1	1266	Ggc/Agc	0	not done		benign	
CDCP1		inserm.fr	GRCh37	3	45127264	45127264	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2052T									Valid												ENST00000296129.1:c.2377C>A	p.Pro793Thr	p.P793T	ENST00000296129	NM_022842.4	793	Cca/Aca	0	validated		possiblydamaging	
ZNF334		inserm.fr	GRCh37	20	45130943	45130943	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000347606.4:c.1035G>A	p.Gly345=	p.G345=	ENST00000347606	NM_018102.4	345	ggG/ggA	0	not done		synonymous	
ZNF334		inserm.fr	GRCh37	20	45131708	45131708	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000347606.4:c.270G>A	p.Lys90=	p.K90=	ENST00000347606	NM_018102.4	90	aaG/aaA	0	not done		synonymous	
CDCP1		inserm.fr	GRCh37	3	45135019	45135019	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000296129.1:c.1377G>A	p.Leu459=	p.L459=	ENST00000296129	NM_022842.4	459	ctG/ctA	0	not done		synonymous	
CDCP1		inserm.fr	GRCh37	3	45135149	45135149	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000296129.1:c.1247G>A	p.Ser416Asn	p.S416N	ENST00000296129	NM_022842.4	416	aGc/aAc	0	not done		possiblydamaging	
TSC22D1		inserm.fr	GRCh37	13	45149664	45149664	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000458659.2:c.547G>A	p.Ala183Thr	p.A183T	ENST00000458659	NM_183422.3	183	Gcc/Acc	0	not done		probablydamaging	
CDCP1		inserm.fr	GRCh37	3	45152262	45152262	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000296129.1:c.727G>A	p.Gly243Ser	p.G243S	ENST00000296129	NM_022842.4	243	Ggc/Agc	0	not done		possiblydamaging	
OCSTAMP		inserm.fr	GRCh37	20	45174184	45174184	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000279028.2:c.829G>A	p.Ala277Thr	p.A277T	ENST00000279028	NM_080721.2	277	Gcc/Acc	0	not done		benign	
CEACAM19		inserm.fr	GRCh37	19	45176091	45176091	+	synonymous_variant	Silent	SNP	C	T	T			CHC429T																					ENST00000403660.3:c.279C>T	p.Ala93=	p.A93=	ENST00000403660		93	gcC/gcT	0	validated		synonymous	
KIF2C		inserm.fr	GRCh37	1	45216197	45216197	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1545T																					ENST00000372224.4:c.400C>T	p.Pro134Ser	p.P134S	ENST00000372224	NM_006845.3	134	Cct/Tct	0	not done		probablydamaging	
SLC13A3		inserm.fr	GRCh37	20	45221159	45221159	+	synonymous_variant	Silent	SNP	C	T	T			CHC1209T																					ENST00000279027.4:c.804G>A	p.Pro268=	p.P268=	ENST00000279027	NM_001193342.1	268	ccG/ccA	0	not done		synonymous	
PRDM11		inserm.fr	GRCh37	11	45246221	45246221	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM337T																					ENST00000424263.2:c.1196C>T	p.Ala399Val	p.A399V	ENST00000424263	NM_001256695.1	399	gCa/gTa	0	validated		probablydamaging	
PHF21B		inserm.fr	GRCh37	22	45278987	45278987	+	synonymous_variant	Silent	SNP	C	T	T			CHC304T																					ENST00000313237.5:c.1575G>A	p.Gln525=	p.Q525=	ENST00000313237	NM_138415.4	525	caG/caA	0	validated		synonymous	
SLC13A3		inserm.fr	GRCh37	20	45279986	45279986	+	synonymous_variant	Silent	SNP	G	T	T			CHC609T																					ENST00000279027.4:c.75C>A	p.Leu25=	p.L25=	ENST00000279027	NM_001193342.1	25	ctC/ctA	0	validated		synonymous	
MYL4		inserm.fr	GRCh37	17	45297304	45297304	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000354968.1:c.198C>T	p.Thr66=	p.T66=	ENST00000354968	NM_001002841.1	66	acC/acT	0	not done		synonymous	
PHF21B		inserm.fr	GRCh37	22	45312279	45312279	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1754T																					ENST00000313237.5:c.445G>A	p.Ala149Thr	p.A149T	ENST00000313237	NM_138415.4	149	Gcc/Acc	0	not done		probablydamaging	
PHF21B		inserm.fr	GRCh37	22	45312474	45312474	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM371T																					ENST00000313237.5:c.250G>A	p.Val84Ile	p.V84I	ENST00000313237	NM_138415.4	84	Gtt/Att	0	validated		benign	
SMAD2		inserm.fr	GRCh37	18	45368315	45368315	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000262160.6:c.1287G>A	p.Gln429=	p.Q429=	ENST00000262160	NM_005901.5	429	caG/caA	0	not done		synonymous	
PVRL2		inserm.fr	GRCh37	19	45368811	45368811	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000252483.5:c.372G>T	p.Thr124=	p.T124=	ENST00000252483	NM_001042724.1	124	acG/acT	0	not done		synonymous	
ALOX15		inserm.fr	GRCh37	17	4539176	4539176	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000570836.1:c.1039G>A	p.Val347Met	p.V347M	ENST00000570836		347	Gtg/Atg	0	not done		probablydamaging	
DUOX2		inserm.fr	GRCh37	15	45401749	45401749	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000603300.1:c.1207G>A	p.Asp403Asn	p.D403N	ENST00000603300	NM_014080.4	403	Gac/Aac	0	not done		probablydamaging	
TOMM40		inserm.fr	GRCh37	19	45404068	45404068	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1598T																					ENST00000426677.2:c.725G>T	p.Gly242Val	p.G242V	ENST00000426677	NM_001128917.1	242	gGa/gTa	0	validated		probablydamaging	
ALOX15		inserm.fr	GRCh37	17	4544908	4544908	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000570836.1:c.39G>A	p.Ser13=	p.S13=	ENST00000570836		13	tcG/tcA	0	not done		synonymous	
APOC2		inserm.fr	GRCh37	19	45452104	45452104	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2112T																					ENST00000590360.1:c.202G>T	p.Asp68Tyr	p.D68Y	ENST00000590360		68	Gat/Tat	0	not done		probablydamaging	
RASSF4		inserm.fr	GRCh37	10	45480368	45480368	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC889T																					ENST00000340258.5:c.481C>T	p.Arg161Cys	p.R161C	ENST00000340258	NM_032023.3	161	Cgc/Tgc	0	not done		probablydamaging	
SEMA6B		inserm.fr	GRCh37	19	4550169	4550169	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC961T									Valid												ENST00000586582.1:c.1237G>A	p.Gly413Ser	p.G413S	ENST00000586582	NM_032108.3	413	Ggc/Agc	0	validated		probablydamaging	
RELB		inserm.fr	GRCh37	19	45515241	45515241	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC798T																					ENST00000221452.8:c.211G>T	p.Gly71Ter	p.G71*	ENST00000221452	NM_006509.3	71	Gga/Tga	0	validated		damaging	
CLASRP		inserm.fr	GRCh37	19	45570742	45570742	+	synonymous_variant	Silent	SNP	C	T	T			CHC1708T																					ENST00000221455.3:c.1557C>T	p.Ser519=	p.S519=	ENST00000221455	NM_007056.2	519	agC/agT	0	not done		synonymous	
KIAA0930		inserm.fr	GRCh37	22	45598877	45598877	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1602T																					ENST00000251993.7:c.861C>A	p.His287Gln	p.H287Q	ENST00000251993	NM_015264.1	287	caC/caA	0	not done		probablydamaging	
KIAA0930		inserm.fr	GRCh37	22	45607965	45607965	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2048T																					ENST00000251993.7:c.103G>A	p.Val35Ile	p.V35I	ENST00000251993	NM_015264.1	35	Gtc/Atc	0	not done		probablydamaging	
CDIP1		inserm.fr	GRCh37	16	4562863	4562863	+	synonymous_variant	Silent	SNP	G	T	T			CHC796T																					ENST00000399599.3:c.444C>A	p.Ala148=	p.A148=	ENST00000399599		148	gcC/gcA	0	validated		synonymous	
FANCM		inserm.fr	GRCh37	14	45645104	45645104	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1052T									Valid												ENST00000267430.5:c.3147A>T	p.Leu1049Phe	p.L1049F	ENST00000267430	NM_020937.2	1049	ttA/ttT	0	validated		possiblydamaging	
PPP1R37		inserm.fr	GRCh37	19	45646857	45646857	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC909T																					ENST00000221462.4:c.953C>T	p.Thr318Met	p.T318M	ENST00000221462	NM_019121.1	318	aCg/aTg	0	not done			
NKPD1		inserm.fr	GRCh37	19	45656972	45656972	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000317951.4:c.723G>A	p.Arg241=	p.R241=	ENST00000317951	NM_198478.3	241	cgG/cgA	0	not done		synonymous	
OR52M1		inserm.fr	GRCh37	11	4566478	4566478	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000360213.1:c.58C>T	p.Pro20Ser	p.P20S	ENST00000360213	NM_001004137.1	20	Cca/Tca	0	not done		probablydamaging	
TRAPPC6A		inserm.fr	GRCh37	19	45667458	45667458	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC912T									Valid												ENST00000006275.4:c.360G>A	p.Met120Ile	p.M120I	ENST00000006275	NM_024108.2	120	atG/atA	0	validated		possiblydamaging	
NPEPPS		inserm.fr	GRCh37	17	45669869	45669869	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2358T																					ENST00000322157.4:c.1384A>T	p.Asn462Tyr	p.N462Y	ENST00000322157	NM_006310.3	462	Aac/Tac	0	validated		probablydamaging	
ZSWIM5		inserm.fr	GRCh37	1	45671747	45671747	+	synonymous_variant	Silent	SNP	G	T	T			CHC301T																					ENST00000359600.5:c.276C>A	p.Pro92=	p.P92=	ENST00000359600	NM_020883.1	92	ccC/ccA	0	validated		synonymous	
CHST1		inserm.fr	GRCh37	11	45672434	45672434	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000308064.2:c.40G>A	p.Ala14Thr	p.A14T	ENST00000308064	NM_003654.5	14	Gcc/Acc	0	not done		benign	
BLOC1S3		inserm.fr	GRCh37	19	45682588	45682588	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1601T																					ENST00000433642.2:c.34C>T	p.Arg12Trp	p.R12W	ENST00000433642	NM_212550.3	12	Cgg/Tgg	0	not done		probablydamaging	
SPATA5L1		inserm.fr	GRCh37	15	45695672	45695672	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000305560.6:c.1045G>T	p.Ala349Ser	p.A349S	ENST00000305560	NM_024063.2	349	Gct/Tct	0	not done		benign	
HCN1		inserm.fr	GRCh37	5	45695778	45695778	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1756T																					ENST00000303230.4:c.418G>A	p.Asp140Asn	p.D140N	ENST00000303230	NM_021072.3	140	Gat/Aat	0	not done		benign	
HCN1		inserm.fr	GRCh37	5	45696077	45696077	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1731T																					ENST00000303230.4:c.119G>A	p.Gly40Asp	p.G40D	ENST00000303230	NM_021072.3	40	gGc/gAc	0	not done		benign	
EYA2		inserm.fr	GRCh37	20	45702837	45702837	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1749T																					ENST00000327619.5:c.524C>T	p.Pro175Leu	p.P175L	ENST00000327619	NM_005244.4	175	cCc/cTc	0	not done		benign	
SPATA5L1		inserm.fr	GRCh37	15	45707876	45707876	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC429T																					ENST00000305560.6:c.1736G>T	p.Gly579Val	p.G579V	ENST00000305560	NM_024063.2	579	gGa/gTa	0	validated		possiblydamaging	
PFKL		inserm.fr	GRCh37	21	45733555	45733555	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC799T																					ENST00000349048.4:c.628C>T	p.Arg210Trp	p.R210W	ENST00000349048	NM_002626.4	210	Cgg/Tgg	0	not done		probablydamaging	
SMC1B		inserm.fr	GRCh37	22	45749941	45749941	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2034T																					ENST00000357450.4:c.3190G>A	p.Asp1064Asn	p.D1064N	ENST00000357450	NM_148674.3	1064	Gat/Aat	0	not done		possiblydamaging	
C21orf2		inserm.fr	GRCh37	21	45751844	45751844	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC451T																					ENST00000397956.3:c.427G>A	p.Ala143Thr	p.A143T	ENST00000397956	NM_001271441.1	143	Gcg/Acg	0	validated		benign	
C21orf2		inserm.fr	GRCh37	21	45752953	45752953	+	synonymous_variant	Silent	SNP	C	T	T			CHC1568T																					ENST00000397956.3:c.336G>A	p.Leu112=	p.L112=	ENST00000397956	NM_001271441.1	112	ctG/ctA	0	not done		synonymous	
KPNB1		inserm.fr	GRCh37	17	45757396	45757396	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1616T																					ENST00000290158.4:c.2364G>T	p.Met788Ile	p.M788I	ENST00000290158	NM_002265.5	788	atG/atT	0	not done		benign	
PELP1		inserm.fr	GRCh37	17	4575988	4575988	+	synonymous_variant	Silent	SNP	G	T	T			CHC1035T																					ENST00000574876.1:c.2298C>A	p.Val766=	p.V766=	ENST00000574876		766	gtC/gtA	0	validated		synonymous	
PELP1		inserm.fr	GRCh37	17	4576580	4576580	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000574876.1:c.1810G>A	p.Ala604Thr	p.A604T	ENST00000574876		604	Gcc/Acc	0	not done		probablydamaging	
SLC30A4		inserm.fr	GRCh37	15	45783045	45783045	+	synonymous_variant	Silent	SNP	C	T	T			CHC736T																					ENST00000261867.4:c.573G>A	p.Val191=	p.V191=	ENST00000261867	NM_013309.4	191	gtG/gtA	0	validated		synonymous	
TBKBP1		inserm.fr	GRCh37	17	45785784	45785784	+	synonymous_variant	Silent	SNP	C	T	T			CHC433T																					ENST00000361722.3:c.897C>T	p.Thr299=	p.T299=	ENST00000361722	NM_014726.2	299	acC/acT	0	validated		synonymous	
TRPM2		inserm.fr	GRCh37	21	45795736	45795736	+	synonymous_variant	Silent	SNP	C	T	T			CHC1182T																					ENST00000397928.1:c.792C>T	p.Tyr264=	p.Y264=	ENST00000397928	NM_003307.3	264	taC/taT	0	not done		synonymous	
MUTYH		inserm.fr	GRCh37	1	45796915	45796915	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372115.3:c.1373G>A	p.Gly458Asp	p.G458D	ENST00000372115	NM_001048171.1	458	gGt/gAt	0	not done		benign	
OR13A1		inserm.fr	GRCh37	10	45799268	45799268	+	synonymous_variant	Silent	SNP	G	T	T			CHC1211T																					ENST00000553795.1:c.603C>A	p.Pro201=	p.P201=	ENST00000553795	NM_001004297.2	201	ccC/ccA	0	not done		synonymous	
SRBD1		inserm.fr	GRCh37	2	45800477	45800477	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM689T																					ENST00000263736.4:c.1174C>A	p.Gln392Lys	p.Q392K	ENST00000263736	NM_018079.4	392	Cag/Aag	0	validated		benign	
MARK4		inserm.fr	GRCh37	19	45801017	45801017	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2039Tbis																					ENST00000262891.4:c.1682G>T	p.Arg561Leu	p.R561L	ENST00000262891	NM_001199867.1	561	cGt/cTt	0	validated		possiblydamaging	
SMC1B		inserm.fr	GRCh37	22	45802704	45802704	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM703T																					ENST00000357450.4:c.341G>A	p.Arg114His	p.R114H	ENST00000357450	NM_148674.3	114	cGt/cAt	0	validated		benign	
TBX21		inserm.fr	GRCh37	17	45811051	45811051	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000177694.1:c.231C>T	p.Tyr77=	p.Y77=	ENST00000177694	NM_013351.1	77	taC/taT	0	not done		synonymous	
TRPM2		inserm.fr	GRCh37	21	45811370	45811370	+	synonymous_variant	Silent	SNP	G	T	T			CHC1207T																					ENST00000397928.1:c.1656G>T	p.Ala552=	p.A552=	ENST00000397928	NM_003307.3	552	gcG/gcT	0	validated		synonymous	
RIBC2		inserm.fr	GRCh37	22	45813685	45813685	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1756T																					ENST00000538017.1:c.400A>T	p.Thr134Ser	p.T134S	ENST00000538017	NM_015653.4	134	Acg/Tcg	0	not done		synonymous	
RIBC2		inserm.fr	GRCh37	22	45813823	45813823	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC892T																					ENST00000538017.1:c.538G>T	p.Ala180Ser	p.A180S	ENST00000538017	NM_015653.4	180	Gca/Tca	0	not done		probablydamaging	
SLC6A20		inserm.fr	GRCh37	3	45817327	45817327	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000358525.4:c.508C>A	p.Pro170Thr	p.P170T	ENST00000358525	NM_020208.3	170	Ccg/Acg	0	not done		benign	
TBX21		inserm.fr	GRCh37	17	45821859	45821859	+	synonymous_variant	Silent	SNP	G	T	T			CHC1010T																					ENST00000177694.1:c.939G>T	p.Leu313=	p.L313=	ENST00000177694	NM_013351.1	313	ctG/ctT	0	not done		synonymous	
TBX21		inserm.fr	GRCh37	17	45821874	45821874	+	synonymous_variant	Silent	SNP	C	T	T			CHC1595T																					ENST00000177694.1:c.954C>T	p.Asn318=	p.N318=	ENST00000177694	NM_013351.1	318	aaC/aaT	0	validated		synonymous	
TBX21		inserm.fr	GRCh37	17	45822390	45822390	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000177694.1:c.1266C>T	p.Gly422=	p.G422=	ENST00000177694	NM_013351.1	422	ggC/ggT	0	not done		synonymous	
TBX21		inserm.fr	GRCh37	17	45822635	45822635	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000177694.1:c.1511C>T	p.Pro504Leu	p.P504L	ENST00000177694	NM_013351.1	504	cCc/cTc	0	not done		probablydamaging	
SRBD1		inserm.fr	GRCh37	2	45829157	45829157	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000263736.4:c.146G>A	p.Arg49Lys	p.R49K	ENST00000263736	NM_018079.4	49	aGa/aAa	0	not done		benign	
KLC3		inserm.fr	GRCh37	19	45851966	45851966	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1746T																					ENST00000391946.2:c.842A>T	p.Gln281Leu	p.Q281L	ENST00000391946	NM_177417.2	281	cAg/cTg	0	not done		possiblydamaging	
KLC3		inserm.fr	GRCh37	19	45852746	45852746	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000391946.2:c.1029C>T	p.Cys343=	p.C343=	ENST00000391946	NM_177417.2	343	tgC/tgT	0	not done		synonymous	
ZMYND8		inserm.fr	GRCh37	20	45853190	45853190	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000461685.1:c.2898G>A	p.Met966Ile	p.M966I	ENST00000461685		966	atG/atA	0	not done		probablydamaging	
ERCC2		inserm.fr	GRCh37	19	45867362	45867362	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB307T																					ENST00000391945.4:c.831C>A	p.Asp277Glu	p.D277E	ENST00000391945	NM_000400.3	277	gaC/gaA	0	validated		probablydamaging	
OSBPL7		inserm.fr	GRCh37	17	45890631	45890631	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC429T									Valid												ENST00000007414.3:c.1737+1G>A		p.X579_splice	ENST00000007414	NM_145798.2			0	validated		damaging	
PPP1R13L		inserm.fr	GRCh37	19	45895270	45895270	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000418234.2:c.1683G>A	p.Gly561=	p.G561=	ENST00000418234	NM_001142502.1	561	ggG/ggA	0	not done		synonymous	
PPP1R13L		inserm.fr	GRCh37	19	45899629	45899629	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1545T																					ENST00000418234.2:c.778G>A	p.Glu260Lys	p.E260K	ENST00000418234	NM_001142502.1	260	Gag/Aag	0	not done		benign	
PPP1R13L		inserm.fr	GRCh37	19	45899940	45899940	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000418234.2:c.575G>A	p.Gly192Glu	p.G192E	ENST00000418234	NM_001142502.1	192	gGg/gAg	0	not done		possiblydamaging	
PPP1R13L		inserm.fr	GRCh37	19	45899944	45899944	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000418234.2:c.571G>A	p.Glu191Lys	p.E191K	ENST00000418234	NM_001142502.1	191	Gag/Aag	0	not done		probablydamaging	
ZMYND8		inserm.fr	GRCh37	20	45905485	45905485	+	synonymous_variant	Silent	SNP	A	T	T			BCM269T																					ENST00000461685.1:c.1053T>A	p.Ser351=	p.S351=	ENST00000461685		351	tcT/tcA	0	validated		synonymous	
LRRC46		inserm.fr	GRCh37	17	45911821	45911821	+	synonymous_variant	Silent	SNP	C	T	T			CHC2052T																					ENST00000269025.4:c.147C>T	p.Val49=	p.V49=	ENST00000269025	NM_033413.3	49	gtC/gtT	0	not done		synonymous	
TPT1		inserm.fr	GRCh37	13	45914918	45914918	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC2216T																					ENST00000530705.1:c.31G>A	p.Asp11Asn	p.D11N	ENST00000530705		11	Gat/Aat	0	not done		benign	
FBLN1		inserm.fr	GRCh37	22	45921487	45921487	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000327858.6:c.250C>T	p.Leu84=	p.L84=	ENST00000327858	NM_006486.2	84	Ctg/Ttg	0	not done		synonymous	
SP6		inserm.fr	GRCh37	17	45925028	45925028	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC892T																					ENST00000536300.1:c.768C>A	p.Cys256Ter	p.C256*	ENST00000536300	NM_001258248.1	256	tgC/tgA	0	not done		damaging	
SP6		inserm.fr	GRCh37	17	45925505	45925505	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000536300.1:c.291G>A	p.Gln97=	p.Q97=	ENST00000536300	NM_001258248.1	97	caG/caA	0	not done		synonymous	
ALOX5		inserm.fr	GRCh37	10	45939675	45939675	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1201T																					ENST00000374391.2:c.1786G>T	p.Gly596Cys	p.G596C	ENST00000374391	NM_000698.3	596	Ggc/Tgc	0	validated		probablydamaging	
FBLN1		inserm.fr	GRCh37	22	45944555	45944555	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000327858.6:c.1504C>T	p.Pro502Ser	p.P502S	ENST00000327858	NM_006486.2	502	Cct/Tct	0	not done		probablydamaging	
PHF21A		inserm.fr	GRCh37	11	45955572	45955572	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2113T																					ENST00000418153.2:c.1990C>A	p.Pro664Thr	p.P664T	ENST00000418153		664	Ccc/Acc	0	not done		possiblydamaging	
FBLN1		inserm.fr	GRCh37	22	45958841	45958841	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000327858.6:c.1698-11550C>T		*566*	ENST00000327858	NM_006486.2			0	not done			
KRTAP10-1		inserm.fr	GRCh37	21	45959972	45959972	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2211T																					ENST00000400375.1:c.62C>A	p.Ala21Asp	p.A21D	ENST00000400375	NM_198691.2	21	gCc/gAc	0	validated		benign	
KRTAP10-2		inserm.fr	GRCh37	21	45970892	45970892	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000391621.1:c.450C>A	p.Cys150Ter	p.C150*	ENST00000391621	NM_198693.2	150	tgC/tgA	0	not done		damaging	
TSPEAR		inserm.fr	GRCh37	21	45987842	45987842	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC879T																					ENST00000323084.4:c.130G>A	p.Ala44Thr	p.A44T	ENST00000323084	NM_001272037.1	44	Gcc/Acc	0	not done		benign	
PHF21A		inserm.fr	GRCh37	11	45991366	45991366	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC884T									Valid												ENST00000418153.2:c.699G>A	p.Gln233=	p.Q233=	ENST00000418153		233	caG/caA	0	validated		possiblydamaging	
RTN2		inserm.fr	GRCh37	19	45992202	45992202	+	synonymous_variant	Silent	SNP	C	T	T			CHC1603T																					ENST00000245923.4:c.1284G>A	p.Thr428=	p.T428=	ENST00000245923	NM_005619.4	428	acG/acA	0	validated		synonymous	
PPM1N		inserm.fr	GRCh37	19	46005340	46005340	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000451287.2:c.1290C>T	p.Ala430=	p.A430=	ENST00000451287	NM_001080401.1	430	gcC/gcT	0	not done		synonymous	
PRR15L		inserm.fr	GRCh37	17	46030318	46030318	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM545T																					ENST00000300557.2:c.283G>A	p.Asp95Asn	p.D95N	ENST00000300557	NM_024320.3	95	Gat/Aat	0	validated		benign	
KRTAP10-9		inserm.fr	GRCh37	21	46047708	46047708	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1531T																					ENST00000397911.3:c.620C>T	p.Ser207Phe	p.S207F	ENST00000397911	NM_198690.2	207	tCt/tTt	0	not done		probablydamaging	
CLIC5		inserm.fr	GRCh37	6	46047901	46047901	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1714T																					ENST00000185206.6:c.79G>A	p.Glu27Lys	p.E27K	ENST00000185206	NM_001114086.1	27	Gaa/Aaa	0	not done		possiblydamaging	
OPA3		inserm.fr	GRCh37	19	46057159	46057159	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000323060.3:c.143-24445G>A		*48*	ENST00000323060	NM_001017989.2			0	not done		damaging	
KRTAP10-10		inserm.fr	GRCh37	21	46057640	46057640	+	synonymous_variant	Silent	SNP	C	T	T			CHC1040T																					ENST00000380095.1:c.306C>T	p.Pro102=	p.P102=	ENST00000380095	NM_181688.1	102	ccC/ccT	0	not done		synonymous	
KRTAP10-10		inserm.fr	GRCh37	21	46057640	46057640	+	synonymous_variant	Silent	SNP	C	T	T			CHC1756T																					ENST00000380095.1:c.306C>T	p.Pro102=	p.P102=	ENST00000380095	NM_181688.1	102	ccC/ccT	0	not done		synonymous	
KRTAP10-11		inserm.fr	GRCh37	21	46066635	46066635	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1154T																					ENST00000334670.8:c.260C>T	p.Pro87Leu	p.P87L	ENST00000334670	NM_198692.2	87	cCg/cTg	0	not done		benign	
ATXN10		inserm.fr	GRCh37	22	46067979	46067979	+	synonymous_variant	Silent	SNP	G	T	T			BCM711T																					ENST00000252934.5:c.36G>T	p.Ser12=	p.S12=	ENST00000252934	NM_013236.3	12	tcG/tcT	0	validated		synonymous	
C16orf96		inserm.fr	GRCh37	16	4606911	4606911	+	splice_donor_variant	Splice_Site	SNP	G	T	T			BCM269T									Valid												ENST00000444310.4:c.420+1G>T		p.X140_splice	ENST00000444310	NM_001145011.1			0	validated		damaging	
KRTAP12-3		inserm.fr	GRCh37	21	46078039	46078039	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000397907.1:c.143C>T	p.Pro48Leu	p.P48L	ENST00000397907	NM_198697.2	48	cCc/cTc	0	not done		possiblydamaging	
GABRG1		inserm.fr	GRCh37	4	46086022	46086022	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2098T																					ENST00000295452.4:c.302C>A	p.Pro101Gln	p.P101Q	ENST00000295452	NM_173536.3	101	cCa/cAa	0	not done		probablydamaging	
KRTAP10-12		inserm.fr	GRCh37	21	46117842	46117842	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000400365.3:c.726C>T	p.Arg242=	p.R242=	ENST00000400365	NM_198699.1	242	cgC/cgT	0	not done		synonymous	
EML2		inserm.fr	GRCh37	19	46119764	46119764	+	synonymous_variant	Silent	SNP	C	T	T			CHC1732T																					ENST00000587152.1:c.2067G>A	p.Thr689=	p.T689=	ENST00000587152	NM_001193268.1	689	acG/acA	0	validated		synonymous	
ARID2		inserm.fr	GRCh37	12	46125033	46125033	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1731T									Valid												ENST00000334344.6:c.220G>T	p.Glu74Ter	p.E74*	ENST00000334344	NM_152641.2	74	Gaa/Taa	0	not done		damaging	
EML2		inserm.fr	GRCh37	19	46136364	46136364	+	synonymous_variant	Silent	SNP	G	T	T			CHC1035T																					ENST00000587152.1:c.966C>A	p.Ala322=	p.A322=	ENST00000587152	NM_001193268.1	322	gcC/gcA	0	validated		synonymous	
C19orf83		inserm.fr	GRCh37	19	46145708	46145708	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000593161.1:c.249C>T	p.His83=	p.H83=	ENST00000593161	NM_001242348.1	83	caC/caT	0	not done		synonymous	
SPATA6L		inserm.fr	GRCh37	9	4617995	4617995	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000475086.1:c.749G>A	p.Gly250Glu	p.G250E	ENST00000475086	NM_001039395.3	250	gGg/gAg	0	not done		benign	
QPCTL		inserm.fr	GRCh37	19	46196031	46196031	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000012049.5:c.70C>T	p.Pro24Ser	p.P24S	ENST00000012049	NM_017659.3	24	Ccg/Tcg	0	not done		benign	
CTIF		inserm.fr	GRCh37	18	46197071	46197071	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM791T																					ENST00000382998.4:c.463G>T	p.Gly155Cys	p.G155C	ENST00000382998	NM_001142397.1	155	Ggc/Tgc	0	validated		probablydamaging	
FBXO46		inserm.fr	GRCh37	19	46216144	46216144	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM321T																					ENST00000317683.3:c.610G>A	p.Ala204Thr	p.A204T	ENST00000317683	NM_001080469.1	204	Gcc/Acc	0	validated		possiblydamaging	
RCAN2		inserm.fr	GRCh37	6	46216460	46216460	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000371374.1:c.399G>A	p.Gln133=	p.Q133=	ENST00000371374	NM_001251974.1	133	caG/caA	0	not done		damaging	
FAM21C		inserm.fr	GRCh37	10	46242069	46242069	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1154T																					ENST00000374362.2:c.706C>T	p.His236Tyr	p.H236Y	ENST00000374362		236	Cat/Tat	0	not done		benign	
ARID2		inserm.fr	GRCh37	12	46244040	46244040	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC429T									Valid												ENST00000334344.6:c.2134G>T	p.Glu712Ter	p.E712*	ENST00000334344	NM_152641.2	712	Gaa/Taa	0	validated		damaging	
ARID2		inserm.fr	GRCh37	12	46245183	46245183	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC896T									Valid												ENST00000334344.6:c.3277C>T	p.Pro1093Ser	p.P1093S	ENST00000334344	NM_152641.2	1093	Cct/Tct	0	not done		possiblydamaging	
ARID2		inserm.fr	GRCh37	12	46245204	46245204	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCM423T									Valid												ENST00000334344.6:c.3298C>T	p.Gln1100Ter	p.Q1100*	ENST00000334344	NM_152641.2	1100	Cag/Tag	0	validated		damaging	
ARID2		inserm.fr	GRCh37	12	46245696	46245696	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1756T																					ENST00000334344.6:c.3790G>T	p.Glu1264Ter	p.E1264*	ENST00000334344	NM_152641.2	1264	Gaa/Taa	0	validated		damaging	
FAM21C		inserm.fr	GRCh37	10	46248641	46248641	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1061T																					ENST00000374362.2:c.1136C>T	p.Thr379Met	p.T379M	ENST00000374362		379	aCg/aTg	0	validated		benign	
C16orf96		inserm.fr	GRCh37	16	4625271	4625271	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC909T																					ENST00000444310.4:c.790G>T	p.Ala264Ser	p.A264S	ENST00000444310	NM_001145011.1	264	Gcc/Tcc	0	not done		benign	
TRIM68		inserm.fr	GRCh37	11	4626369	4626369	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000300747.5:c.366G>A	p.Gln122=	p.Q122=	ENST00000300747	NM_018073.6	122	caG/caA	0	not done		synonymous	
SIX5		inserm.fr	GRCh37	19	46270041	46270041	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000317578.6:c.1176G>A	p.Glu392=	p.E392=	ENST00000317578	NM_175875.4	392	gaG/gaA	0	not done		synonymous	
SPERT		inserm.fr	GRCh37	13	46276919	46276919	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000310521.1:c.85C>T	p.Pro29Ser	p.P29S	ENST00000310521	NM_152719.1	29	Cca/Tca	0	not done		possiblydamaging	
ARID2		inserm.fr	GRCh37	12	46285863	46285863	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1183T									Valid												ENST00000334344.6:c.5131C>T	p.Gln1711Ter	p.Q1711*	ENST00000334344	NM_152641.2	1711	Cag/Tag	0	not done		damaging	
SPERT		inserm.fr	GRCh37	13	46287808	46287808	+	synonymous_variant	Silent	SNP	G	T	T			CHC1053T																					ENST00000310521.1:c.648G>T	p.Ser216=	p.S216=	ENST00000310521	NM_152719.1	216	tcG/tcT	0	validated		synonymous	
DMWD		inserm.fr	GRCh37	19	46289748	46289748	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1594T																					ENST00000270223.6:c.1006C>A	p.Pro336Thr	p.P336T	ENST00000270223	NM_004943.1	336	Cct/Act	0	not done		probablydamaging	
SULF2		inserm.fr	GRCh37	20	46291913	46291913	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC2115T																					ENST00000359930.4:c.2271C>A	p.Tyr757Ter	p.Y757*	ENST00000359930	NM_018837.3	757	taC/taA	0	not done		damaging	
RSPH6A		inserm.fr	GRCh37	19	46299219	46299219	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1754T																					ENST00000221538.3:c.2062G>A	p.Ala688Thr	p.A688T	ENST00000221538	NM_030785.3	688	Gct/Act	0	not done		probablydamaging	
GABRA2		inserm.fr	GRCh37	4	46305528	46305528	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1566T																					ENST00000510861.1:c.805C>A	p.Gln269Lys	p.Q269K	ENST00000510861		269	Caa/Aaa	0	not done		probablydamaging	
SYMPK		inserm.fr	GRCh37	19	46320125	46320125	+	synonymous_variant	Silent	SNP	G	T	T			CHC320T																					ENST00000245934.7:c.3189C>A	p.Ala1063=	p.A1063=	ENST00000245934	NM_004819.2	1063	gcC/gcA	0	validated		synonymous	
CREB3L1		inserm.fr	GRCh37	11	46333889	46333889	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2216T																					ENST00000529193.1:c.767C>T	p.Thr256Ile	p.T256I	ENST00000529193	NM_052854.3	256	aCa/aTa	0	not done		probablydamaging	
CREB3L1		inserm.fr	GRCh37	11	46337914	46337914	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000529193.1:c.1109C>T	p.Thr370Ile	p.T370I	ENST00000529193	NM_052854.3	370	aCc/aTc	0	not done		probablydamaging	
SYMPK		inserm.fr	GRCh37	19	46351096	46351096	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM543T																					ENST00000245934.7:c.590G>A	p.Arg197His	p.R197H	ENST00000245934	NM_004819.2	197	cGc/cAc	0	validated		probablydamaging	
DGKZ		inserm.fr	GRCh37	11	46393687	46393687	+	synonymous_variant	Silent	SNP	G	T	T			CHC1055T																					ENST00000454345.1:c.1458G>T	p.Leu486=	p.L486=	ENST00000454345	NM_001105540.1	486	ctG/ctT	0	validated		synonymous	
CCR2		inserm.fr	GRCh37	3	46399680	46399680	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC258T									Valid												ENST00000292301.4:c.662G>T	p.Cys221Phe	p.C221F	ENST00000292301	NM_001123041.2	221	tGc/tTc	0	validated		probablydamaging	
NOVA2		inserm.fr	GRCh37	19	46457171	46457171	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM423T																					ENST00000263257.5:c.263C>A	p.Thr88Lys	p.T88K	ENST00000263257	NM_002516.2	88	aCg/aAg	0	validated		probablydamaging	
NOVA2		inserm.fr	GRCh37	19	46464363	46464363	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000263257.5:c.134G>A	p.Gly45Asp	p.G45D	ENST00000263257	NM_002516.2	45	gGc/gAc	0	not done		probablydamaging	
SLC9A7		inserm.fr	GRCh37	X	46466449	46466449	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC465T																					ENST00000328306.4:c.2116G>A	p.Gly706Arg	p.G706R	ENST00000328306	NM_001257291.1	706	Gga/Aga	0	validated		benign	
MAST2		inserm.fr	GRCh37	1	46489520	46489520	+	synonymous_variant	Silent	SNP	C	T	T			CHC2127T																					ENST00000361297.2:c.1648C>T	p.Leu550=	p.L550=	ENST00000361297	NM_015112.2	550	Cta/Tta	0	not done		synonymous	
MAST2		inserm.fr	GRCh37	1	46501609	46501609	+	synonymous_variant	Silent	SNP	C	T	T			CHC2112T																					ENST00000361297.2:c.5268C>T	p.Asp1756=	p.D1756=	ENST00000361297	NM_015112.2	1756	gaC/gaT	0	not done		synonymous	
ZC3H13		inserm.fr	GRCh37	13	46542130	46542130	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2206T																					ENST00000282007.3:c.3830G>A	p.Arg1277Lys	p.R1277K	ENST00000282007	NM_015070.3	1277	aGa/aAa	0	not done		probablydamaging	
ZC3H13		inserm.fr	GRCh37	13	46543528	46543528	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2216T																					ENST00000282007.3:c.3151G>A	p.Gly1051Ser	p.G1051S	ENST00000282007	NM_015070.3	1051	Ggt/Agt	0	not done		benign	
ZC3H13		inserm.fr	GRCh37	13	46543893	46543893	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1708T																					ENST00000282007.3:c.2786G>A	p.Ser929Asn	p.S929N	ENST00000282007	NM_015070.3	929	aGc/aAc	0	not done		benign	
CYP39A1		inserm.fr	GRCh37	6	46554838	46554838	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000275016.2:c.1226G>A	p.Ser409Asn	p.S409N	ENST00000275016	NM_001278739.1	409	aGc/aAc	0	not done		benign	
EPAS1		inserm.fr	GRCh37	2	46597022	46597022	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC434T									Valid												ENST00000263734.3:c.836A>T	p.Glu279Val	p.E279V	ENST00000263734	NM_001430.4	279	gAa/gTa	0	validated		probablydamaging	
SHCBP1		inserm.fr	GRCh37	16	46615849	46615849	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2103T																					ENST00000303383.3:c.1811C>A	p.Pro604His	p.P604H	ENST00000303383	NM_024745.4	604	cCt/cAt	0	not done		possiblydamaging	
SHCBP1		inserm.fr	GRCh37	16	46617517	46617517	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1751T																					ENST00000303383.3:c.1604T>A	p.Ile535Lys	p.I535K	ENST00000303383	NM_024745.4	535	aTa/aAa	0	not done		benign	
OR51D1		inserm.fr	GRCh37	11	4661831	4661831	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000357605.2:c.811C>T	p.Leu271Phe	p.L271F	ENST00000357605	NM_001004751.2	271	Ctc/Ttc	0	not done		probablydamaging	
IGFL3		inserm.fr	GRCh37	19	46627386	46627386	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1736T																					ENST00000341415.2:c.107T>A	p.Leu36Gln	p.L36Q	ENST00000341415	NM_207393.1	36	cTg/cAg	0	not done		probablydamaging	
HARBI1		inserm.fr	GRCh37	11	46637628	46637628	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000326737.3:c.160G>A	p.Gly54Arg	p.G54R	ENST00000326737	NM_173811.3	54	Ggg/Agg	0	not done		benign	
ADARB1		inserm.fr	GRCh37	21	46640896	46640896	+	synonymous_variant	Silent	SNP	G	T	T			CHC1209T																					ENST00000539173.1:c.2013G>T	p.Ala671=	p.A671=	ENST00000539173	NM_015833.3	671	gcG/gcT	0	not done		synonymous	
CPB2		inserm.fr	GRCh37	13	46648091	46648091	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000181383.4:c.508G>A	p.Ala170Thr	p.A170T	ENST00000181383	NM_001872.4	170	Gcc/Acc	0	validated		benign	
HOXB4		inserm.fr	GRCh37	17	46654254	46654254	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC793T									Valid												ENST00000332503.5:c.586G>A	p.Ala196Thr	p.A196T	ENST00000332503	NM_024015.4	196	Gcc/Acc	0	validated		probablydamaging	
POMGNT1		inserm.fr	GRCh37	1	46658864	46658864	+	synonymous_variant	Silent	SNP	G	T	T			CHC793T																					ENST00000371992.1:c.1134C>A	p.Ala378=	p.A378=	ENST00000371992	NM_001243766.1	378	gcC/gcA	0	validated		synonymous	
CPB2		inserm.fr	GRCh37	13	46661880	46661880	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC2321T																					ENST00000181383.4:c.150G>A	p.Glu50=	p.E50=	ENST00000181383	NM_001872.4	50	gaG/gaA	0	validated		damaging	
HOXB9		inserm.fr	GRCh37	17	46700371	46700371	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC322T									Valid												ENST00000311177.5:c.644G>A	p.Arg215Lys	p.R215K	ENST00000311177	NM_024017.4	215	aGg/aAg	0	validated		probablydamaging	
HOXB9		inserm.fr	GRCh37	17	46703361	46703361	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM275T																					ENST00000311177.5:c.271G>A	p.Glu91Lys	p.E91K	ENST00000311177	NM_024017.4	91	Gag/Aag	0	validated		benign	
POFUT2		inserm.fr	GRCh37	21	46705622	46705622	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC429T									Valid												ENST00000349485.5:c.353C>A	p.Pro118His	p.P118H	ENST00000349485	NM_133635.4	118	cCc/cAc	0	validated		probablydamaging	
VPS35		inserm.fr	GRCh37	16	46706220	46706220	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000299138.7:c.1325G>A	p.Ser442Asn	p.S442N	ENST00000299138	NM_018206.4	442	aGt/aAt	0	not done		benign	
VPS35		inserm.fr	GRCh37	16	46714655	46714655	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000299138.7:c.434G>A	p.Arg145Lys	p.R145K	ENST00000299138	NM_018206.4	145	aGg/aAg	0	not done		probablydamaging	
LCP1		inserm.fr	GRCh37	13	46718600	46718600	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC805T																					ENST00000398576.2:c.1230C>A	p.Asn410Lys	p.N410K	ENST00000398576		410	aaC/aaA	0	not done		benign	
AC011294.3		inserm.fr	GRCh37	7	46729145	46729145	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC1085T																					ENST00000451905.1:c.172-1G>A		p.X58_splice	ENST00000451905				0	validated		damaging	
ATP6V1E2		inserm.fr	GRCh37	2	46739745	46739745	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1741T																					ENST00000306448.4:c.106G>A	p.Glu36Lys	p.E36K	ENST00000306448	NM_080653.3	36	Gaa/Aaa	0	not done		probablydamaging	
OR51E1		inserm.fr	GRCh37	11	4674467	4674467	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000396952.5:c.711C>T	p.Ala237=	p.A237=	ENST00000396952	NM_152430.3	237	gcC/gcT	0	not done		synonymous	
F2		inserm.fr	GRCh37	11	46745015	46745015	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC218T																					ENST00000311907.5:c.506G>T	p.Cys169Phe	p.C169F	ENST00000311907	NM_000506.3	169	tGc/tTc	0	validated		probablydamaging	
DYRK4		inserm.fr	GRCh37	12	4677213	4677213	+	missense_variant,splice_region_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	T	T			CHC1545T																					ENST00000537719.1:c.131A>T	p.Lys44Met	p.K44M	ENST00000537719		44	aAg/aTg	0	not done		damaging	
CELSR1		inserm.fr	GRCh37	22	46807591	46807591	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000262738.3:c.4677G>A	p.Val1559=	p.V1559=	ENST00000262738	NM_014246.1	1559	gtG/gtA	0	not done		synonymous	
HIF3A		inserm.fr	GRCh37	19	46811546	46811546	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000377670.4:c.432C>T	p.Ala144=	p.A144=	ENST00000377670	NM_152795.3	144	gcC/gcT	0	not done		synonymous	
PIGF		inserm.fr	GRCh37	2	46842165	46842165	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2103T																					ENST00000281382.6:c.139T>A	p.Cys47Ser	p.C47S	ENST00000281382	NM_002643.3	47	Tgt/Agt	0	not done		possiblydamaging	
HIF3A		inserm.fr	GRCh37	19	46842790	46842790	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000377670.4:c.1921C>T	p.Pro641Ser	p.P641S	ENST00000377670	NM_152795.3	641	Ccc/Tcc	0	not done		benign	
DPP9		inserm.fr	GRCh37	19	4684709	4684709	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000262960.9:c.2144G>A	p.Gly715Glu	p.G715E	ENST00000262960	NM_139159.4	715	gGg/gAg	0	not done		probablydamaging	
PRSS44		inserm.fr	GRCh37	3	46852668	46852668	+	non_coding_transcript_exon_variant	RNA	SNP	G	T	T			CHC1616T																					ENST00000515154.2:n.688C>A		*230*	ENST00000515154				0	not done			
PRSS42		inserm.fr	GRCh37	3	46875120	46875120	+	synonymous_variant	Silent	SNP	C	T	T			CHC902T																					ENST00000429665.1:c.261G>A	p.Glu87=	p.E87=	ENST00000429665	NM_182702.1	87	gaG/gaA	0	not done		synonymous	
COL18A1		inserm.fr	GRCh37	21	46875787	46875787	+	synonymous_variant	Silent	SNP	C	T	T			BCM783T																					ENST00000355480.5:c.343C>T	p.Leu115=	p.L115=	ENST00000355480	NM_030582.3	115	Ctg/Ttg	0	validated		synonymous	
TTLL6		inserm.fr	GRCh37	17	46878653	46878653	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1717T																					ENST00000393382.3:c.575T>A	p.Phe192Tyr	p.F192Y	ENST00000393382	NM_001130918.1	192	tTc/tAc	0	not done		benign	
LRP4		inserm.fr	GRCh37	11	46880598	46880598	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM483T																					ENST00000378623.1:c.5654G>A	p.Arg1885Gln	p.R1885Q	ENST00000378623	NM_002334.3	1885	cGa/cAa	0	validated		benign	
LRP4		inserm.fr	GRCh37	11	46895142	46895142	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC2110Tbis																					ENST00000378623.1:c.4232G>A	p.Arg1411Gln	p.R1411Q	ENST00000378623	NM_002334.3	1411	cGa/cAa	0	not done		probablydamaging	
COL18A1		inserm.fr	GRCh37	21	46906780	46906780	+	synonymous_variant	Silent	SNP	C	T	T			CHC1751T																					ENST00000355480.5:c.2247C>T	p.Ser749=	p.S749=	ENST00000355480	NM_030582.3	749	agC/agT	0	validated		synonymous	
COL18A1		inserm.fr	GRCh37	21	46909399	46909399	+	splice_acceptor_variant	Splice_Site	SNP	G	T	T			CHC799T																					ENST00000355480.5:c.2464-1G>T		p.X822_splice	ENST00000355480	NM_030582.3			0	not done		possiblydamaging	
CCDC8		inserm.fr	GRCh37	19	46915363	46915363	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000307522.3:c.705G>A	p.Gly235=	p.G235=	ENST00000307522	NM_032040.4	235	ggG/ggA	0	not done		synonymous	
PHF16		inserm.fr	GRCh37	X	46918075	46918075	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC912T									Valid												ENST00000218343.4:c.2068C>T	p.Gln690Ter	p.Q690*	ENST00000218343	NM_014735.3	690	Cag/Tag	0	validated		damaging	
LRP4		inserm.fr	GRCh37	11	46920564	46920564	+	synonymous_variant	Silent	SNP	G	T	T			BCB167T																					ENST00000378623.1:c.567C>A	p.Pro189=	p.P189=	ENST00000378623	NM_002334.3	189	ccC/ccA	0	validated		synonymous	
PTH1R		inserm.fr	GRCh37	3	46925060	46925060	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000313049.5:c.11C>T	p.Ala4Val	p.A4V	ENST00000313049		4	gCc/gTc	0	not done		benign	
CELSR1		inserm.fr	GRCh37	22	46931754	46931754	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000262738.3:c.1314G>A	p.Pro438=	p.P438=	ENST00000262738	NM_014246.1	438	ccG/ccA	0	validated		synonymous	
CELSR1		inserm.fr	GRCh37	22	46931809	46931809	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC051T																					ENST00000262738.3:c.1259C>A	p.Ala420Glu	p.A420E	ENST00000262738	NM_014246.1	420	gCg/gAg	0	validated		possiblydamaging	
KIAA0226L		inserm.fr	GRCh37	13	46946345	46946345	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000429979.1:c.266G>A	p.Gly89Asp	p.G89D	ENST00000429979	NM_025113.2	89	gGc/gAc	0	not done		benign	
GPT2		inserm.fr	GRCh37	16	46956271	46956271	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM439T																					ENST00000340124.4:c.1155G>T	p.Met385Ile	p.M385I	ENST00000340124	NM_133443.2	385	atG/atT	0	validated		probablydamaging	
CDC37L1		inserm.fr	GRCh37	9	4697867	4697867	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000381854.3:c.735C>T	p.Phe245=	p.F245=	ENST00000381854	NM_017913.2	245	ttC/ttT	0	validated		synonymous	
PNMAL2		inserm.fr	GRCh37	19	46998415	46998415	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T																					ENST00000377652.3:c.526A>T	p.Arg176Trp	p.R176W	ENST00000377652		176	Agg/Tgg	0	validated		probablydamaging	
GPRIN2		inserm.fr	GRCh37	10	46999444	46999444	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2200T																					ENST00000374314.4:c.564G>T	p.Met188Ile	p.M188I	ENST00000374314		188	atG/atT	0	not done		benign	
DYRK4		inserm.fr	GRCh37	12	4700462	4700462	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			BCM703T																					ENST00000540757.2:c.116C>T	p.Ala39Val	p.A39V	ENST00000540757	NM_003845.1	39	gCa/gTa	0	validated		benign	
DPP9		inserm.fr	GRCh37	19	4702648	4702648	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000262960.9:c.850G>A	p.Gly284Arg	p.G284R	ENST00000262960	NM_139159.4	284	Ggg/Agg	0	not done		possiblydamaging	
NBEAL2		inserm.fr	GRCh37	3	47036712	47036712	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000450053.3:c.1487G>T	p.Gly496Val	p.G496V	ENST00000450053	NM_015175.2	496	gGc/gTc	0	not done		possiblydamaging	
MKNK1		inserm.fr	GRCh37	1	47037173	47037173	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371946.4:c.532G>A	p.Ala178Thr	p.A178T	ENST00000371946	NM_003684.5	178	Gcg/Acg	0	not done		benign	
NBEAL2		inserm.fr	GRCh37	3	47040596	47040596	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCM567T									Valid												ENST00000450053.3:c.3532C>T	p.Arg1178Ter	p.R1178*	ENST00000450053	NM_015175.2	1178	Cga/Tga	0	validated		damaging	
NBEAL2		inserm.fr	GRCh37	3	47047047	47047047	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC917T																					ENST00000450053.3:c.6629C>T	p.Ala2210Val	p.A2210V	ENST00000450053	NM_015175.2	2210	gCc/gTc	0	validated		benign	
NBEAL2		inserm.fr	GRCh37	3	47048757	47048757	+	synonymous_variant	Silent	SNP	G	T	T			CHC301T																					ENST00000450053.3:c.7251G>T	p.Leu2417=	p.L2417=	ENST00000450053	NM_015175.2	2417	ctG/ctT	0	validated		synonymous	
SETD2		inserm.fr	GRCh37	3	47061249	47061249	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000409792.3:c.7431+1G>A		p.X2477_splice	ENST00000409792	NM_014159.6			0	not done		damaging	
CSTPP1		inserm.fr	GRCh37	11	47074068	47074068	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC1725T																					ENST00000378615.3:c.279C>T	p.Gly93=	p.G93=	ENST00000378615		93	ggC/ggT	0	not done		possiblydamaging	
SETD2		inserm.fr	GRCh37	3	47084050	47084050	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000409792.3:c.7238+1G>A		p.X2413_splice	ENST00000409792	NM_014159.6			0	not done		damaging	
SETD2		inserm.fr	GRCh37	3	47088042	47088042	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1010T																					ENST00000409792.3:c.7033G>A	p.Val2345Met	p.V2345M	ENST00000409792	NM_014159.6	2345	Gtg/Atg	0	not done		probablydamaging	
LIPG		inserm.fr	GRCh37	18	47091784	47091784	+	synonymous_variant	Silent	SNP	C	T	T			CHC1745T																					ENST00000261292.4:c.195C>T	p.Tyr65=	p.Y65=	ENST00000261292	NM_006033.2	65	taC/taT	0	not done		synonymous	
SETD2		inserm.fr	GRCh37	3	47098952	47098952	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000409792.3:c.6322G>A	p.Val2108Ile	p.V2108I	ENST00000409792	NM_014159.6	2108	Gta/Ata	0	not done		probablydamaging	
IGF2BP1		inserm.fr	GRCh37	17	47119620	47119620	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000290341.3:c.958C>T	p.Leu320Phe	p.L320F	ENST00000290341	NM_006546.3	320	Ctt/Ttt	0	not done		possiblydamaging	
IGF2BP1		inserm.fr	GRCh37	17	47126788	47126788	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000290341.3:c.1716C>T	p.Ala572=	p.A572=	ENST00000290341	NM_006546.3	572	gcC/gcT	0	not done		synonymous	
PTGIR		inserm.fr	GRCh37	19	47126909	47126909	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1044T																					ENST00000291294.2:c.574G>A	p.Val192Met	p.V192M	ENST00000291294	NM_000960.3	192	Gtg/Atg	0	not done		benign	
PTGIR		inserm.fr	GRCh37	19	47127456	47127456	+	synonymous_variant	Silent	SNP	G	T	T			CHC794T																					ENST00000291294.2:c.27C>A	p.Thr9=	p.T9=	ENST00000291294	NM_000960.3	9	acC/acA	0	validated		synonymous	
CERK		inserm.fr	GRCh37	22	47133984	47133984	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2112T																					ENST00000216264.8:c.62G>A	p.Cys21Tyr	p.C21Y	ENST00000216264	NM_022766.5	21	tGc/tAc	0	validated		possiblydamaging	
PLD2		inserm.fr	GRCh37	17	4714131	4714131	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2099T																					ENST00000263088.6:c.895G>T	p.Ala299Ser	p.A299S	ENST00000263088	NM_001243108.1	299	Gca/Tca	0	not done		probablydamaging	
MGRN1		inserm.fr	GRCh37	16	4714734	4714734	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2141T																					ENST00000262370.7:c.586G>T	p.Val196Leu	p.V196L	ENST00000262370	NM_015246.3	196	Gtg/Ttg	0	not done		benign	
MGRN1		inserm.fr	GRCh37	16	4715131	4715131	+	synonymous_variant	Silent	SNP	G	T	T			CHC434T																					ENST00000262370.7:c.657G>T	p.Val219=	p.V219=	ENST00000262370	NM_015246.3	219	gtG/gtT	0	validated		synonymous	
DACT3		inserm.fr	GRCh37	19	47151868	47151868	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000391916.2:c.1761G>A	p.Gly587=	p.G587=	ENST00000391916	NM_145056.2	587	ggG/ggA	0	not done		synonymous	
SETD2		inserm.fr	GRCh37	3	47162379	47162379	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000409792.3:c.3747G>A	p.Leu1249=	p.L1249=	ENST00000409792	NM_014159.6	1249	ttG/ttA	0	not done		synonymous	
DACT3		inserm.fr	GRCh37	19	47164281	47164281	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000391916.2:c.41G>A	p.Gly14Asp	p.G14D	ENST00000391916	NM_145056.2	14	gGc/gAc	0	not done		probablydamaging	
SLC38A4		inserm.fr	GRCh37	12	47172389	47172389	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000447411.1:c.888G>A	p.Gly296=	p.G296=	ENST00000447411	NM_001143824.1	296	ggG/ggA	0	not done		synonymous	
CSTPP1		inserm.fr	GRCh37	11	47183051	47183051	+	synonymous_variant	Silent	SNP	A	T	T			CHC793T																					ENST00000378615.3:c.876A>T	p.Thr292=	p.T292=	ENST00000378615		292	acA/acT	0	validated		synonymous	
TNFRSF21		inserm.fr	GRCh37	6	47221257	47221257	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000296861.2:c.1244G>A	p.Gly415Asp	p.G415D	ENST00000296861	NM_014452.4	415	gGt/gAt	0	not done		probablydamaging	
B4GALNT2		inserm.fr	GRCh37	17	47233953	47233953	+	synonymous_variant	Silent	SNP	C	T	T			CHC1746T																					ENST00000300404.2:c.666C>T	p.Ala222=	p.A222=	ENST00000300404	NM_153446.2	222	gcC/gcT	0	not done		synonymous	
B4GALNT2		inserm.fr	GRCh37	17	47236446	47236446	+	synonymous_variant	Silent	SNP	C	T	T			CHC1626T																					ENST00000300404.2:c.726C>T	p.Val242=	p.V242=	ENST00000300404	NM_153446.2	242	gtC/gtT	0	not done		synonymous	
STRN4		inserm.fr	GRCh37	19	47241467	47241467	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000391910.3:c.414G>A	p.Gly138=	p.G138=	ENST00000391910		138	ggG/ggA	0	not done		synonymous	
B4GALNT2		inserm.fr	GRCh37	17	47241521	47241521	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1035T									Valid												ENST00000300404.2:c.1018C>T	p.Leu340Phe	p.L340F	ENST00000300404	NM_153446.2	340	Ctc/Ttc	0	validated		probablydamaging	
B4GALNT2		inserm.fr	GRCh37	17	47246157	47246157	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000300404.2:c.1390C>T	p.Pro464Ser	p.P464S	ENST00000300404	NM_153446.2	464	Ccc/Tcc	0	not done		probablydamaging	
PREX1		inserm.fr	GRCh37	20	47247280	47247280	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371941.3:c.4579G>A	p.Val1527Ile	p.V1527I	ENST00000371941	NM_020820.3	1527	Gta/Ata	0	not done		benign	
PLD2		inserm.fr	GRCh37	17	4725172	4725172	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1044T																					ENST00000263088.6:c.2547G>T	p.Met849Ile	p.M849I	ENST00000263088	NM_001243108.1	849	atG/atT	0	not done		benign	
FKRP		inserm.fr	GRCh37	19	47259026	47259026	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM783T																					ENST00000318584.5:c.319G>T	p.Ala107Ser	p.A107S	ENST00000318584	NM_024301.4	107	Gcc/Tcc	0	validated		benign	
ZNF157		inserm.fr	GRCh37	X	47272984	47272984	+	synonymous_variant	Silent	SNP	C	T	T			CHC2362T																					ENST00000377073.3:c.1512C>T	p.Ala504=	p.A504=	ENST00000377073	NM_003446.3	504	gcC/gcT	0	validated		synonymous	
ABI3		inserm.fr	GRCh37	17	47294007	47294007	+	synonymous_variant	Silent	SNP	C	T	T			CHC1186T																					ENST00000225941.1:c.232C>T	p.Leu78=	p.L78=	ENST00000225941	NM_016428.2	78	Ctg/Ttg	0	not done		synonymous	
MADD		inserm.fr	GRCh37	11	47300573	47300573	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM723T																					ENST00000311027.5:c.1233A>T	p.Glu411Asp	p.E411D	ENST00000311027	NM_003682.3	411	gaA/gaT	0	validated		benign	
PHOSPHO1		inserm.fr	GRCh37	17	47302427	47302427	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000413580.1:c.60G>A	p.Pro20=	p.P20=	ENST00000413580	NM_178500.3	20	ccG/ccA	0	not done		synonymous	
KIF9		inserm.fr	GRCh37	3	47307287	47307287	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000335044.2:c.849G>A	p.Gly283=	p.G283=	ENST00000335044	NM_001134878.1	283	ggG/ggA	0	not done		synonymous	
ZNF41		inserm.fr	GRCh37	X	47315753	47315753	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000377065.4:c.117G>A	p.Glu39=	p.E39=	ENST00000377065	NM_153380.2	39	gaG/gaA	0	not done		synonymous	
PCBP3		inserm.fr	GRCh37	21	47320973	47320973	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000400314.1:c.285C>T	p.Gly95=	p.G95=	ENST00000400314		95	ggC/ggT	0	not done		synonymous	
TNS3		inserm.fr	GRCh37	7	47342994	47342994	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC197T									Valid												ENST00000398879.1:c.3011T>A	p.Leu1004Gln	p.L1004Q	ENST00000398879		1004	cTa/cAa	0	validated		possiblydamaging	
MYBPC3		inserm.fr	GRCh37	11	47367862	47367862	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000545968.1:c.986C>A	p.Pro329His	p.P329H	ENST00000545968	NM_000256.3	329	cCc/cAc	0	not done		benign	
MYBPC3		inserm.fr	GRCh37	11	47371349	47371349	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM739T																					ENST00000545968.1:c.630C>A	p.His210Gln	p.H210Q	ENST00000545968	NM_000256.3	210	caC/caA	0	validated		benign	
KLHL18		inserm.fr	GRCh37	3	47382075	47382075	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1626T																					ENST00000232766.5:c.1135G>T	p.Val379Phe	p.V379F	ENST00000232766	NM_025010.4	379	Gtc/Ttc	0	not done		possiblydamaging	
C2orf61		inserm.fr	GRCh37	2	47382358	47382358	+	synonymous_variant	Silent	SNP	G	T	T			CHC1738T																					ENST00000445927.2:c.33C>A	p.Thr11=	p.T11=	ENST00000445927	NM_001163561.1	11	acC/acA	0	not done		synonymous	
ZNF652		inserm.fr	GRCh37	17	47388673	47388673	+	splice_donor_variant	Splice_Site	SNP	C	T	T			BCM269T									Valid												ENST00000362063.2:c.1309+1G>A		p.X437_splice	ENST00000362063	NM_014897.2			0	validated		damaging	
MGRN1		inserm.fr	GRCh37	16	4738885	4738885	+	synonymous_variant	Silent	SNP	C	T	T			BCM735T																					ENST00000262370.7:c.1707C>T	p.Ser569=	p.S569=	ENST00000262370	NM_015246.3	569	agC/agT	0	validated		synonymous	
TNS3		inserm.fr	GRCh37	7	47408576	47408576	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000398879.1:c.1667G>A	p.Gly556Glu	p.G556E	ENST00000398879		556	gGg/gAg	0	not done		possiblydamaging	
ARHGAP35		inserm.fr	GRCh37	19	47422279	47422279	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1629T																					ENST00000404338.3:c.347A>T	p.Tyr116Phe	p.Y116F	ENST00000404338	NM_004491.4	116	tAt/tTt	0	not done		probablydamaging	
ARAF		inserm.fr	GRCh37	X	47426741	47426741	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM545T																					ENST00000377045.4:c.986G>T	p.Trp329Leu	p.W329L	ENST00000377045	NM_001654.4	329	tGg/tTg	0	validated		probablydamaging	
ARAF		inserm.fr	GRCh37	X	47426742	47426742	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM545T																					ENST00000377045.4:c.987G>T	p.Trp329Cys	p.W329C	ENST00000377045	NM_001654.4	329	tgG/tgT	0	validated		probablydamaging	
MYO5B		inserm.fr	GRCh37	18	47428982	47428982	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000285039.7:c.2793G>A	p.Gln931=	p.Q931=	ENST00000285039	NM_001080467.2	931	caG/caA	0	not done		synonymous	
TBC1D22A		inserm.fr	GRCh37	22	47433023	47433023	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1594T																					ENST00000337137.4:c.1258C>T	p.Arg420Cys	p.R420C	ENST00000337137	NM_014346.2	420	Cgc/Tgc	0	not done		probablydamaging	
SLC39A13		inserm.fr	GRCh37	11	47433489	47433489	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1545T																					ENST00000362021.4:c.314G>T	p.Arg105Leu	p.R105L	ENST00000362021	NM_001128225.2	105	cGc/cTc	0	not done		benign	
SYN1		inserm.fr	GRCh37	X	47436030	47436030	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1594T																					ENST00000295987.7:c.847G>A	p.Asp283Asn	p.D283N	ENST00000295987	NM_006950.3	283	Gac/Aac	0	not done		probablydamaging	
PTPN23		inserm.fr	GRCh37	3	47449003	47449003	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1603T																					ENST00000265562.4:c.932C>T	p.Ser311Phe	p.S311F	ENST00000265562	NM_015466.2	311	tCt/tTt	0	not done		probablydamaging	
SCAP		inserm.fr	GRCh37	3	47455494	47455494	+	synonymous_variant	Silent	SNP	C	T	T			CHC909T																					ENST00000265565.5:c.3690G>A	p.Gly1230=	p.G1230=	ENST00000265565	NM_012235.2	1230	ggG/ggA	0	not done		synonymous	
RAPSN		inserm.fr	GRCh37	11	47469657	47469657	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000298854.2:c.238G>A	p.Asp80Asn	p.D80N	ENST00000298854	NM_005055.4	80	Gac/Aac	0	not done		benign	
SYN1		inserm.fr	GRCh37	X	47478867	47478867	+	synonymous_variant	Silent	SNP	G	T	T			CHC197T																					ENST00000295987.7:c.261C>A	p.Thr87=	p.T87=	ENST00000295987	NM_006950.3	87	acC/acA	0	validated		synonymous	
TNS3		inserm.fr	GRCh37	7	47479224	47479224	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000398879.1:c.11G>A	p.Gly4Asp	p.G4D	ENST00000398879		4	gGc/gAc	0	not done		probablydamaging	
ANKS3		inserm.fr	GRCh37	16	4748849	4748849	+	synonymous_variant	Silent	SNP	G	T	T			CHC320T																					ENST00000304283.4:c.1503C>A	p.Ala501=	p.A501=	ENST00000304283	NM_133450.3	501	gcC/gcA	0	validated		synonymous	
MDGA2		inserm.fr	GRCh37	14	47504409	47504409	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2103T																					ENST00000426342.1:c.730C>A	p.Pro244Thr	p.P244T	ENST00000426342	NM_182830.4	244	Cca/Aca	0	not done		probablydamaging	
MDGA2		inserm.fr	GRCh37	14	47530738	47530738	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1594T																					ENST00000426342.1:c.345C>A	p.His115Gln	p.H115Q	ENST00000426342	NM_182830.4	115	caC/caA	0	not done		probablydamaging	
COL6A2		inserm.fr	GRCh37	21	47545809	47545809	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1191T																					ENST00000300527.4:c.2080C>T	p.Leu694Phe	p.L694F	ENST00000300527	NM_001849.3	694	Ctc/Ttc	0	not done		probablydamaging	
COL6A2		inserm.fr	GRCh37	21	47552013	47552013	+	synonymous_variant	Silent	SNP	C	T	T			CHC1040T																					ENST00000300527.4:c.2607C>T	p.Asp869=	p.D869=	ENST00000300527	NM_001849.3	869	gaC/gaT	0	not done		synonymous	
FTCD		inserm.fr	GRCh37	21	47558456	47558456	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM739T																					ENST00000291670.5:c.1409G>A	p.Arg470Gln	p.R470Q	ENST00000291670	NM_006657.2	470	cGg/cAg	0	validated		benign	
MDGA2		inserm.fr	GRCh37	14	47566193	47566193	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000426342.1:c.165G>A	p.Leu55=	p.L55=	ENST00000426342	NM_182830.4	55	ctG/ctA	0	not done		synonymous	
NGFR		inserm.fr	GRCh37	17	47583814	47583814	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC432T																					ENST00000172229.3:c.362G>T	p.Arg121Leu	p.R121L	ENST00000172229	NM_002507.3	121	cGc/cTc	0	not done		benign	
NGFR		inserm.fr	GRCh37	17	47583924	47583924	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000172229.3:c.472G>T	p.Ala158Ser	p.A158S	ENST00000172229	NM_002507.3	158	Gcc/Tcc	0	not done		benign	
NGFR		inserm.fr	GRCh37	17	47589317	47589317	+	synonymous_variant	Silent	SNP	A	T	T			BCM759T																					ENST00000172229.3:c.885A>T	p.Pro295=	p.P295=	ENST00000172229	NM_002507.3	295	ccA/ccT	0	validated		synonymous	
ZC3H4		inserm.fr	GRCh37	19	47589735	47589735	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000253048.5:c.776G>A	p.Arg259His	p.R259H	ENST00000253048	NM_015168.1	259	cGc/cAc	0	validated		probablydamaging	
ZC3H4		inserm.fr	GRCh37	19	47597674	47597674	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM543T																					ENST00000253048.5:c.353C>A	p.Ser118Ter	p.S118*	ENST00000253048	NM_015168.1	118	tCg/tAg	0	validated		damaging	
CORIN		inserm.fr	GRCh37	4	47597812	47597812	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1720T																					ENST00000273857.4:c.3055G>A	p.Val1019Ile	p.V1019I	ENST00000273857	NM_006587.3	1019	Gtt/Att	0	not done		probablydamaging	
SPATC1L		inserm.fr	GRCh37	21	47602545	47602545	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000291672.5:c.186G>A	p.Gly62=	p.G62=	ENST00000291672	NM_001142854.1	62	ggG/ggA	0	not done		synonymous	
CSPG5		inserm.fr	GRCh37	3	47604130	47604130	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2052T																					ENST00000383738.2:c.1661C>A	p.Ala554Asp	p.A554D	ENST00000383738	NM_001206945.1	554	gCt/gAt	0	validated		benign	
EPCAM		inserm.fr	GRCh37	2	47606944	47606944	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000263735.4:c.694G>T	p.Asp232Tyr	p.D232Y	ENST00000263735	NM_002354.2	232	Gac/Tac	0	not done		possiblydamaging	
C1QTNF4		inserm.fr	GRCh37	11	47611637	47611637	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000302514.3:c.726G>A	p.Thr242=	p.T242=	ENST00000302514	NM_031909.2	242	acG/acA	0	not done		synonymous	
ARFGEF2		inserm.fr	GRCh37	20	47614889	47614889	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000371917.4:c.3279G>T	p.Trp1093Cys	p.W1093C	ENST00000371917	NM_006420.2	1093	tgG/tgT	0	not done		benign	
ARFGEF2		inserm.fr	GRCh37	20	47614989	47614989	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC889T																					ENST00000371917.4:c.3379A>T	p.Ile1127Phe	p.I1127F	ENST00000371917	NM_006420.2	1127	Atc/Ttc	0	not done		probablydamaging	
CSPG5		inserm.fr	GRCh37	3	47619339	47619339	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000383738.2:c.177G>A	p.Thr59=	p.T59=	ENST00000383738	NM_001206945.1	59	acG/acA	0	not done		synonymous	
SMARCC1		inserm.fr	GRCh37	3	47632328	47632328	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000254480.5:c.3044-1G>A		p.X1015_splice	ENST00000254480	NM_003074.3			0	not done		damaging	
MSH2		inserm.fr	GRCh37	2	47637507	47637507	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1205T																					ENST00000233146.2:c.641G>T	p.Arg214Ile	p.R214I	ENST00000233146	NM_000251.2	214	aGa/aTa	0	validated		probablydamaging	
RAB11FIP3		inserm.fr	GRCh37	16	476429	476429	+	synonymous_variant	Silent	SNP	G	T	T			CHC322T																					ENST00000262305.4:c.423G>T	p.Ala141=	p.A141=	ENST00000262305	NM_014700.3	141	gcG/gcT	0	validated		synonymous	
GPR111		inserm.fr	GRCh37	6	47649179	47649179	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000296862.1:c.884C>T	p.Thr295Ile	p.T295I	ENST00000296862		295	aCc/aTc	0	not done		benign	
GPR111		inserm.fr	GRCh37	6	47649967	47649967	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1035T									Valid												ENST00000296862.1:c.1672G>T	p.Val558Phe	p.V558F	ENST00000296862		558	Gtc/Ttc	0	validated		probablydamaging	
MSH2		inserm.fr	GRCh37	2	47672792	47672792	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM399T									Valid												ENST00000233146.2:c.1382A>T	p.Asp461Val	p.D461V	ENST00000233146	NM_000251.2	461	gAt/gTt	0	validated		possiblydamaging	
GPR115		inserm.fr	GRCh37	6	47680111	47680111	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1738T																					ENST00000283303.2:c.319C>T	p.Arg107Cys	p.R107C	ENST00000283303	NM_153838.3	107	Cgc/Tgc	0	not done		probablydamaging	
GPR115		inserm.fr	GRCh37	6	47682070	47682070	+	synonymous_variant	Silent	SNP	G	T	T			CHC1148T																					ENST00000283303.2:c.1089G>T	p.Ala363=	p.A363=	ENST00000283303	NM_153838.3	363	gcG/gcT	0	not done		synonymous	
CSE1L		inserm.fr	GRCh37	20	47685288	47685288	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1592T																					ENST00000262982.2:c.604G>T	p.Ala202Ser	p.A202S	ENST00000262982	NM_001316.3	202	Gcc/Tcc	0	not done		benign	
TAL1		inserm.fr	GRCh37	1	47685466	47685466	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000294339.3:c.922C>A	p.Pro308Thr	p.P308T	ENST00000294339	NM_003189.2	308	Ccc/Acc	0	not done		benign	
SPOP		inserm.fr	GRCh37	17	47688692	47688692	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000347630.2:c.608G>A	p.Cys203Tyr	p.C203Y	ENST00000347630	NM_001007230.1	203	tGc/tAc	0	not done		possiblydamaging	
AJAP1		inserm.fr	GRCh37	1	4772177	4772177	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000378191.4:c.247C>T	p.Pro83Ser	p.P83S	ENST00000378191	NM_018836.3	83	Ccg/Tcg	0	not done		benign	
AJAP1		inserm.fr	GRCh37	1	4772267	4772267	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000378191.4:c.337C>T	p.Pro113Ser	p.P113S	ENST00000378191	NM_018836.3	113	Ccc/Tcc	0	not done		probablydamaging	
CCDC9		inserm.fr	GRCh37	19	47763939	47763939	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC121T									Valid												ENST00000221922.6:c.305G>T	p.Arg102Leu	p.R102L	ENST00000221922	NM_015603.2	102	cGg/cTg	0	validated		probablydamaging	
CCDC9		inserm.fr	GRCh37	19	47763963	47763963	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000221922.6:c.329G>T	p.Arg110Leu	p.R110L	ENST00000221922	NM_015603.2	110	cGc/cTc	0	not done		possiblydamaging	
PCNT		inserm.fr	GRCh37	21	47783782	47783782	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1052T									Valid												ENST00000359568.5:c.2542G>T	p.Asp848Tyr	p.D848Y	ENST00000359568	NM_006031.5	848	Gac/Tac	0	validated		probablydamaging	
SMARCC1		inserm.fr	GRCh37	3	47787433	47787433	+	synonymous_variant	Silent	SNP	A	T	T			CHC1629T																					ENST00000254480.5:c.366T>A	p.Leu122=	p.L122=	ENST00000254480	NM_003074.3	122	ctT/ctA	0	not done		synonymous	
CCDC11		inserm.fr	GRCh37	18	47788585	47788585	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC451T																					ENST00000398545.4:c.74C>A	p.Ser25Tyr	p.S25Y	ENST00000398545	NM_145020.3	25	tCc/tAc	0	validated		benign	
MBD1		inserm.fr	GRCh37	18	47800707	47800707	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM783T									Valid												ENST00000590208.1:c.995G>A	p.Arg332His	p.R332H	ENST00000590208	NM_001204136.1	332	cGc/cAc	0	validated		possiblydamaging	
PTCHD4		inserm.fr	GRCh37	6	47846762	47846762	+	synonymous_variant	Silent	SNP	A	T	T			CHC1209T																					ENST00000339488.4:c.1818T>A	p.Ser606=	p.S606=	ENST00000339488	NM_001013732.3	606	tcT/tcA	0	not done		synonymous	
PTCHD4		inserm.fr	GRCh37	6	47846971	47846971	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1763T																					ENST00000339488.4:c.1609G>A	p.Asp537Asn	p.D537N	ENST00000339488	NM_001013732.3	537	Gac/Aac	0	not done		probablydamaging	
PCNT		inserm.fr	GRCh37	21	47847643	47847643	+	synonymous_variant	Silent	SNP	C	T	T			BCM423T																					ENST00000359568.5:c.7428C>T	p.Leu2476=	p.L2476=	ENST00000359568	NM_006031.5	2476	ctC/ctT	0	validated		synonymous	
DHX34		inserm.fr	GRCh37	19	47856874	47856874	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000328771.4:c.587C>T	p.Pro196Leu	p.P196L	ENST00000328771	NM_014681.5	196	cCc/cTc	0	not done		probablydamaging	
NUP160		inserm.fr	GRCh37	11	47869858	47869858	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000378460.2:c.115G>A	p.Gly39Arg	p.G39R	ENST00000378460	NM_015231.1	39	Gga/Aga	0	not done		probablydamaging	
DHX34		inserm.fr	GRCh37	19	47878900	47878900	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC097T																					ENST00000328771.4:c.2242G>T	p.Gly748Cys	p.G748C	ENST00000328771	NM_014681.5	748	Ggc/Tgc	0	not done		benign	
DHX34		inserm.fr	GRCh37	19	47884150	47884150	+	synonymous_variant	Silent	SNP	C	T	T			CHC1611T																					ENST00000328771.4:c.3060C>T	p.Thr1020=	p.T1020=	ENST00000328771	NM_014681.5	1020	acC/acT	0	not done		synonymous	
DHX30		inserm.fr	GRCh37	3	47889985	47889985	+	synonymous_variant	Silent	SNP	G	T	T			CHC1052T																					ENST00000445061.1:c.2520G>T	p.Val840=	p.V840=	ENST00000445061	NM_138615.2	840	gtG/gtT	0	validated		synonymous	
PKD1L1		inserm.fr	GRCh37	7	47898307	47898307	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1209T																					ENST00000289672.2:c.4326T>A	p.His1442Gln	p.H1442Q	ENST00000289672	NM_138295.3	1442	caT/caA	0	not done		benign	
OR51F1		inserm.fr	GRCh37	11	4790243	4790243	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM695T																					ENST00000343430.3:c.905G>A	p.Arg302His	p.R302H	ENST00000343430	NM_001004752.1	302	cGc/cAc	0	validated		benign	
FOXD2		inserm.fr	GRCh37	1	47903858	47903858	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000334793.5:c.51G>T	p.Pro17=	p.P17=	ENST00000334793	NM_004474.3	17	ccG/ccT	0	validated		synonymous	
MAP4		inserm.fr	GRCh37	3	47912458	47912458	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1749T																					ENST00000360240.6:c.2704C>A	p.Pro902Thr	p.P902T	ENST00000360240	NM_002375.4	902	Cct/Act	0	validated		benign	
TAC4		inserm.fr	GRCh37	17	47917252	47917252	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000334568.4:c.270G>A	p.Thr90=	p.T90=	ENST00000334568	NM_170685.2	90	acG/acA	0	validated		synonymous	
ZNF630		inserm.fr	GRCh37	X	47918925	47918925	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000409324.3:c.906G>A	p.Glu302=	p.E302=	ENST00000409324	NM_001037735.2	302	gaG/gaA	0	not done		synonymous	
PKD1L1		inserm.fr	GRCh37	7	47944130	47944130	+	synonymous_variant	Silent	SNP	C	T	T			BCM337T																					ENST00000289672.2:c.1776G>A	p.Val592=	p.V592=	ENST00000289672	NM_138295.3	592	gtG/gtA	0	validated		synonymous	
MAP4		inserm.fr	GRCh37	3	47958587	47958587	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000360240.6:c.730G>A	p.Gly244Arg	p.G244R	ENST00000360240	NM_002375.4	244	Gga/Aga	0	not done		probablydamaging	
SLC8A2		inserm.fr	GRCh37	19	47960672	47960672	+	synonymous_variant	Silent	SNP	C	T	T			CHC1746T																					ENST00000236877.6:c.855G>A	p.Thr285=	p.T285=	ENST00000236877	NM_015063.2	285	acG/acA	0	not done		synonymous	
PKD1L1		inserm.fr	GRCh37	7	47970742	47970742	+	synonymous_variant	Silent	SNP	C	T	T			CHC1148T																					ENST00000289672.2:c.696G>A	p.Val232=	p.V232=	ENST00000289672	NM_138295.3	232	gtG/gtA	0	not done		synonymous	
KCNB1		inserm.fr	GRCh37	20	47990501	47990501	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2211T																					ENST00000371741.4:c.1596G>A	p.Met532Ile	p.M532I	ENST00000371741	NM_004975.2	532	atG/atA	0	validated		benign	
MSH6		inserm.fr	GRCh37	2	48026219	48026219	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC314T																					ENST00000234420.5:c.1097A>T	p.Tyr366Phe	p.Y366F	ENST00000234420	NM_000179.2	366	tAt/tTt	0	validated		probablydamaging	
ZNF500		inserm.fr	GRCh37	16	4802739	4802739	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000219478.6:c.1081G>A	p.Gly361Ser	p.G361S	ENST00000219478		361	Ggc/Agc	0	not done		benign	
ZNF541		inserm.fr	GRCh37	19	48032277	48032277	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM735T									Valid												ENST00000314121.4:c.3557C>A	p.Pro1186His	p.P1186H	ENST00000314121		1186	cCt/cAt	0	validated		probablydamaging	
PTCHD4		inserm.fr	GRCh37	6	48036172	48036172	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1746T																					ENST00000339488.4:c.220G>A	p.Val74Ile	p.V74I	ENST00000339488	NM_001013732.3	74	Gtc/Atc	0	not done		possiblydamaging	
NIPAL1		inserm.fr	GRCh37	4	48037734	48037734	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC879T																					ENST00000295461.5:c.778G>T	p.Ala260Ser	p.A260S	ENST00000295461	NM_207330.1	260	Gcc/Tcc	0	not done		possiblydamaging	
DLX4		inserm.fr	GRCh37	17	48050482	48050482	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000240306.3:c.329C>T	p.Pro110Leu	p.P110L	ENST00000240306	NM_138281.2	110	cCt/cTt	0	not done		benign	
DLX4		inserm.fr	GRCh37	17	48050488	48050488	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000240306.3:c.335C>T	p.Ala112Val	p.A112V	ENST00000240306	NM_138281.2	112	gCc/gTc	0	not done		benign	
SEMA6D		inserm.fr	GRCh37	15	48052095	48052095	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1040T																					ENST00000316364.5:c.100G>T	p.Asp34Tyr	p.D34Y	ENST00000316364	NM_153618.1	34	Gac/Tac	0	not done		probablydamaging	
SEMA6D		inserm.fr	GRCh37	15	48058368	48058368	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000316364.5:c.1635C>T	p.Thr545=	p.T545=	ENST00000316364	NM_153618.1	545	acC/acT	0	not done		synonymous	
ZNF541		inserm.fr	GRCh37	19	48058853	48058853	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000314121.4:c.261G>A	p.Lys87=	p.K87=	ENST00000314121		87	aaG/aaA	0	not done		synonymous	
SEMA6D		inserm.fr	GRCh37	15	48062834	48062834	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2127T																					ENST00000316364.5:c.2074C>T	p.Arg692Trp	p.R692W	ENST00000316364	NM_153618.1	692	Cgg/Tgg	0	not done		probablydamaging	
SEMA6D		inserm.fr	GRCh37	15	48063212	48063212	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000316364.5:c.2452C>T	p.Pro818Ser	p.P818S	ENST00000316364	NM_153618.1	818	Cca/Tca	0	not done		benign	
PRMT2		inserm.fr	GRCh37	21	48068469	48068469	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2113T																					ENST00000397637.1:c.427G>T	p.Asp143Tyr	p.D143Y	ENST00000397637		143	Gac/Tac	0	not done		probablydamaging	
TXK		inserm.fr	GRCh37	4	48097229	48097229	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000264316.4:c.512G>A	p.Gly171Asp	p.G171D	ENST00000264316	NM_003328.2	171	gGt/gAt	0	not done		probablydamaging	
PTGIS		inserm.fr	GRCh37	20	48140634	48140634	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000244043.4:c.816G>A	p.Met272Ile	p.M272I	ENST00000244043	NM_000961.3	272	atG/atA	0	not done		probablydamaging	
RAPGEF3		inserm.fr	GRCh37	12	48151790	48151790	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000449771.2:c.78G>A	p.Pro26=	p.P26=	ENST00000449771		26	ccG/ccA	0	not done		synonymous	
ABCC12		inserm.fr	GRCh37	16	48162556	48162556	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000311303.3:c.1329G>A	p.Trp443Ter	p.W443*	ENST00000311303	NM_033226.2	443	tgG/tgA	0	not done		damaging	
PTGIS		inserm.fr	GRCh37	20	48166694	48166694	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000244043.4:c.107G>A	p.Ser36Asn	p.S36N	ENST00000244043	NM_000961.3	36	aGc/aAc	0	not done		benign	
ABCC12		inserm.fr	GRCh37	16	48172284	48172284	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000311303.3:c.834G>A	p.Met278Ile	p.M278I	ENST00000311303	NM_033226.2	278	atG/atA	0	not done		benign	
GLTSCR1		inserm.fr	GRCh37	19	48183733	48183733	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000396720.3:c.1306C>T	p.Pro436Ser	p.P436S	ENST00000396720	NM_015711.3	436	Ccg/Tcg	0	not done		possiblydamaging	
SAMD14		inserm.fr	GRCh37	17	48193450	48193450	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2029T																					ENST00000503131.1:c.504C>A	p.Asp168Glu	p.D168E	ENST00000503131	NM_174920.3	168	gaC/gaA	0	not done		probablydamaging	
ABCC11		inserm.fr	GRCh37	16	48209231	48209231	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000394747.1:c.3636G>A	p.Glu1212=	p.E1212=	ENST00000394747	NM_033151.3	1212	gaG/gaA	0	not done		synonymous	
PPP1R9B		inserm.fr	GRCh37	17	48217474	48217474	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000316878.6:c.1844G>A	p.Gly615Glu	p.G615E	ENST00000316878	NM_032595.3	615	gGg/gAg	0	not done		benign	
PPP1R9B		inserm.fr	GRCh37	17	48218692	48218692	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000316878.6:c.1666G>A	p.Val556Met	p.V556M	ENST00000316878	NM_032595.3	556	Gtg/Atg	0	not done		probablydamaging	
PPP1R9B		inserm.fr	GRCh37	17	48226648	48226648	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1055T																					ENST00000316878.6:c.1225G>A	p.Glu409Lys	p.E409K	ENST00000316878	NM_032595.3	409	Gag/Aag	0	validated		probablydamaging	
ABCC11		inserm.fr	GRCh37	16	48231943	48231943	+	synonymous_variant	Silent	SNP	C	T	T			CHC1744T																					ENST00000394747.1:c.2253G>A	p.Lys751=	p.K751=	ENST00000394747	NM_033151.3	751	aaG/aaA	0	not done		synonymous	
ABCA13		inserm.fr	GRCh37	7	48237876	48237876	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC097T																					ENST00000435803.1:c.206C>T	p.Pro69Leu	p.P69L	ENST00000435803	NM_152701.3	69	cCc/cTc	0	not done		probablydamaging	
OR4B1		inserm.fr	GRCh37	11	48238724	48238724	+	synonymous_variant	Silent	SNP	C	T	T			BCM337T																					ENST00000309562.2:c.363C>T	p.Tyr121=	p.Y121=	ENST00000309562	NM_001005470.1	121	taC/taT	0	validated		synonymous	
ABCC11		inserm.fr	GRCh37	16	48249255	48249255	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000394747.1:c.952G>A	p.Val318Ile	p.V318I	ENST00000394747	NM_033151.3	318	Gta/Ata	0	not done		benign	
OR52R1		inserm.fr	GRCh37	11	4825229	4825229	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000356069.2:c.382G>A	p.Ala128Thr	p.A128T	ENST00000356069	NM_001005177.3	128	Gct/Act	0	not done		probablydamaging	
ITPR1		inserm.fr	GRCh37	3	4825536	4825536	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1207T																					ENST00000302640.8:c.6502A>T	p.Lys2168Ter	p.K2168*	ENST00000302640	NM_001168272.1	2168	Aaa/Taa	0	not done		damaging	
MAPK4		inserm.fr	GRCh37	18	48256131	48256131	+	synonymous_variant	Silent	SNP	G	T	T			CHC1568T																					ENST00000400384.2:c.1671G>T	p.Pro557=	p.P557=	ENST00000400384	NM_002747.3	557	ccG/ccT	0	not done		synonymous	
TRABD2B		inserm.fr	GRCh37	1	48260263	48260263	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000606738.2:c.983G>A	p.Gly328Glu	p.G328E	ENST00000606738	NM_001194986.1	328	gGa/gAa	0	not done			
COL1A1		inserm.fr	GRCh37	17	48263371	48263371	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000225964.5:c.4016G>A	p.Gly1339Asp	p.G1339D	ENST00000225964	NM_000088.3	1339	gGc/gAc	0	not done		probablydamaging	
COL1A1		inserm.fr	GRCh37	17	48266608	48266608	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1035T									Valid												ENST00000225964.5:c.2858G>A	p.Gly953Asp	p.G953D	ENST00000225964	NM_000088.3	953	gGt/gAt	0	validated		probablydamaging	
OR4X2		inserm.fr	GRCh37	11	48266988	48266988	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000302329.3:c.333C>T	p.Ala111=	p.A111=	ENST00000302329	NM_001004727.1	111	gcC/gcT	0	not done		synonymous	
COL1A1		inserm.fr	GRCh37	17	48272632	48272632	+	synonymous_variant	Silent	SNP	G	T	T			CHC1602T																					ENST00000225964.5:c.1260C>A	p.Pro420=	p.P420=	ENST00000225964	NM_000088.3	420	ccC/ccA	0	not done		synonymous	
COL1A1		inserm.fr	GRCh37	17	48273001	48273001	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC432T																					ENST00000225964.5:c.1082G>A	p.Arg361Gln	p.R361Q	ENST00000225964	NM_000088.3	361	cGa/cAa	0	not done		probablydamaging	
OR4X1		inserm.fr	GRCh37	11	48285452	48285452	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1568T																					ENST00000320048.1:c.40G>T	p.Gly14Ter	p.G14*	ENST00000320048	NM_001004726.1	14	Gga/Tga	0	not done		damaging	
OR4X1		inserm.fr	GRCh37	11	48285930	48285930	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCB231T																					ENST00000320048.1:c.518A>T	p.Asp173Val	p.D173V	ENST00000320048	NM_001004726.1	173	gAc/gTc	0	validated		probablydamaging	
OR4X1		inserm.fr	GRCh37	11	48285974	48285974	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1052T																					ENST00000320048.1:c.562G>T	p.Ala188Ser	p.A188S	ENST00000320048	NM_001004726.1	188	Gca/Tca	0	validated		benign	
TPRX1		inserm.fr	GRCh37	19	48305333	48305333	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2202T																					ENST00000322175.3:c.935C>A	p.Pro312Gln	p.P312Q	ENST00000322175	NM_198479.2	312	cCa/cAa	0	validated		possiblydamaging	
NME6		inserm.fr	GRCh37	3	48336285	48336285	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000421967.1:c.427G>A	p.Val143Ile	p.V143I	ENST00000421967	NM_005793.3	143	Gtt/Att	0	not done		benign	
OR4C3		inserm.fr	GRCh37	11	48347073	48347073	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1720T																					ENST00000319856.4:c.581G>T	p.Cys194Phe	p.C194F	ENST00000319856	NM_001004702.1	194	tGt/tTt	0	not done		probablydamaging	
COL2A1		inserm.fr	GRCh37	12	48371174	48371174	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000380518.3:c.3202G>A	p.Gly1068Arg	p.G1068R	ENST00000380518	NM_033150.2	1068	Gga/Aga	0	not done		probablydamaging	
COL2A1		inserm.fr	GRCh37	12	48376883	48376883	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM735T									Valid												ENST00000380518.3:c.2087G>A	p.Gly696Asp	p.G696D	ENST00000380518	NM_033150.2	696	gGt/gAt	0	validated		probablydamaging	
SULT2A1		inserm.fr	GRCh37	19	48377964	48377964	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM371T																					ENST00000222002.3:c.695C>A	p.Ser232Tyr	p.S232Y	ENST00000222002	NM_003167.3	232	tCc/tAc	0	validated		probablydamaging	
SLAIN2		inserm.fr	GRCh37	4	48381743	48381743	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2206T									Valid												ENST00000264313.6:c.740G>T	p.Ser247Ile	p.S247I	ENST00000264313	NM_020846.1	247	aGt/aTt	0	validated		probablydamaging	
SLAIN2		inserm.fr	GRCh37	4	48384780	48384780	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2098T																					ENST00000264313.6:c.1058C>T	p.Ser353Leu	p.S353L	ENST00000264313	NM_020846.1	353	tCa/tTa	0	not done		probablydamaging	
RBP3		inserm.fr	GRCh37	10	48388518	48388518	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000224600.4:c.2360G>A	p.Gly787Asp	p.G787D	ENST00000224600	NM_002900.2	787	gGc/gAc	0	not done		probablydamaging	
ABCA13		inserm.fr	GRCh37	7	48390416	48390416	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	T	T			CHC2103T																					ENST00000435803.1:c.10381A>T	p.Ser3461Cys	p.S3461C	ENST00000435803	NM_152701.3	3461	Agt/Tgt	0	not done		probablydamaging	
ABCA13		inserm.fr	GRCh37	7	48391970	48391970	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000435803.1:c.10574C>T	p.Ala3525Val	p.A3525V	ENST00000435803	NM_152701.3	3525	gCc/gTc	0	not done		benign	
SIAH1		inserm.fr	GRCh37	16	48395814	48395814	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000356721.3:c.619G>A	p.Val207Ile	p.V207I	ENST00000356721	NM_001006610.1	207	Gtt/Att	0	validated		possiblydamaging	
SLC23A2		inserm.fr	GRCh37	20	4839971	4839971	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000379333.1:c.1684G>A	p.Gly562Ser	p.G562S	ENST00000379333	NM_203327.1	562	Ggc/Agc	0	not done		probablydamaging	
GDF2		inserm.fr	GRCh37	10	48413688	48413688	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB111T									Valid												ENST00000249598.1:c.1180G>A	p.Val394Met	p.V394M	ENST00000249598	NM_016204.1	394	Gtg/Atg	0	validated		probablydamaging	
GDF2		inserm.fr	GRCh37	10	48414115	48414115	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000249598.1:c.753G>A	p.Leu251=	p.L251=	ENST00000249598	NM_016204.1	251	ctG/ctA	0	not done		synonymous	
RADIL		inserm.fr	GRCh37	7	4841535	4841535	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000399583.3:c.2591C>A	p.Ala864Asp	p.A864D	ENST00000399583	NM_018059.4	864	gCc/gAc	0	not done		benign	
GDF2		inserm.fr	GRCh37	10	48416560	48416560	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC884T																					ENST00000249598.1:c.134G>A	p.Gly45Glu	p.G45E	ENST00000249598	NM_016204.1	45	gGa/gAa	0	validated		benign	
TBC1D25		inserm.fr	GRCh37	X	48418086	48418086	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1738T																					ENST00000376771.4:c.790G>T	p.Glu264Ter	p.E264*	ENST00000376771	NM_002536.2	264	Gag/Tag	0	not done		damaging	
OR51F2		inserm.fr	GRCh37	11	4842972	4842972	+	synonymous_variant	Silent	SNP	C	T	T			BCM371T																					ENST00000322110.5:c.357C>T	p.His119=	p.H119=	ENST00000322110	NM_001004753.1	119	caC/caT	0	validated		synonymous	
GDF10		inserm.fr	GRCh37	10	48438425	48438425	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000224605.2:c.286G>A	p.Gly96Ser	p.G96S	ENST00000224605	NM_004962.3	96	Ggc/Agc	0	not done		probablydamaging	
PLXNB1		inserm.fr	GRCh37	3	48464984	48464984	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000358536.4:c.1037G>A	p.Arg346His	p.R346H	ENST00000358536	NM_002673.4	346	cGt/cAt	0	not done		possiblydamaging	
LRRC59		inserm.fr	GRCh37	17	48465421	48465421	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC2352T																					ENST00000225972.7:c.502G>A	p.Glu168Lys	p.E168K	ENST00000225972	NM_018509.3	168	Gag/Aag	0	not done		damaging	
SENP1		inserm.fr	GRCh37	12	48477441	48477441	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC451T																					ENST00000004980.5:c.485G>A	p.Gly162Asp	p.G162D	ENST00000004980		162	gGt/gAt	0	validated		probablydamaging	
SLC9A3		inserm.fr	GRCh37	5	484774	484774	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC879T																					ENST00000264938.3:c.793G>A	p.Gly265Arg	p.G265R	ENST00000264938	NM_004174.2	265	Ggg/Agg	0	not done		probablydamaging	
ROGDI		inserm.fr	GRCh37	16	4847835	4847835	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000322048.7:c.702G>A	p.Trp234Ter	p.W234*	ENST00000322048	NM_024589.2	234	tgG/tgA	0	not done		damaging	
ATRIP		inserm.fr	GRCh37	3	48506910	48506910	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000320211.3:c.2333C>T	p.Ala778Val	p.A778V	ENST00000320211	NM_130384.2	778	gCc/gTc	0	validated		possiblydamaging	
SLC12A1		inserm.fr	GRCh37	15	48519315	48519315	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1715T																					ENST00000396577.3:c.668C>T	p.Thr223Met	p.T223M	ENST00000396577	NM_001184832.1	223	aCg/aTg	0	not done			
SLC12A1		inserm.fr	GRCh37	15	48536967	48536967	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1591T																					ENST00000396577.3:c.1318G>T	p.Asp440Tyr	p.D440Y	ENST00000396577	NM_001184832.1	440	Gat/Tat	0	not done		probablydamaging	
CABP5		inserm.fr	GRCh37	19	48543863	48543863	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1601T																					ENST00000293255.2:c.237C>A	p.Asn79Lys	p.N79K	ENST00000293255	NM_019855.4	79	aaC/aaA	0	not done		damaging	
WAS		inserm.fr	GRCh37	X	48545262	48545262	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000376701.4:c.652C>T	p.Pro218Ser	p.P218S	ENST00000376701	NM_000377.2	218	Cct/Tct	0	not done		possiblydamaging	
WAS		inserm.fr	GRCh37	X	48547378	48547378	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000376701.4:c.1261C>T	p.Pro421Ser	p.P421S	ENST00000376701	NM_000377.2	421	Cct/Tct	0	not done		benign	
RADIL		inserm.fr	GRCh37	7	4855044	4855044	+	synonymous_variant	Silent	SNP	G	T	T			BCM423T																					ENST00000399583.3:c.2004C>A	p.Val668=	p.V668=	ENST00000399583	NM_018059.4	668	gtC/gtA	0	validated		synonymous	
SUV39H1		inserm.fr	GRCh37	X	48558617	48558617	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC434T																					ENST00000376687.3:c.301C>T	p.His101Tyr	p.H101Y	ENST00000376687	NM_003173.2	101	Cac/Tac	0	validated		benign	
N4BP1		inserm.fr	GRCh37	16	48576970	48576970	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2127T																					ENST00000262384.3:c.2536C>A	p.Pro846Thr	p.P846T	ENST00000262384	NM_153029.3	846	Cca/Aca	0	validated		probablydamaging	
N4BP1		inserm.fr	GRCh37	16	48577104	48577104	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000262384.3:c.2402G>A	p.Gly801Asp	p.G801D	ENST00000262384	NM_153029.3	801	gGc/gAc	0	not done		benign	
SLC12A1		inserm.fr	GRCh37	15	48577345	48577345	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000396577.3:c.2528C>T	p.Ala843Val	p.A843V	ENST00000396577	NM_001184832.1	843	gCg/gTg	0	not done		benign	
PLA2G4C		inserm.fr	GRCh37	19	48602951	48602951	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC805T																					ENST00000599111.1:c.454G>A	p.Val152Ile	p.V152I	ENST00000599111	NM_003706.2	152	Gtt/Att	0	not done		possiblydamaging	
SMAD4		inserm.fr	GRCh37	18	48604826	48604826	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1736T																					ENST00000342988.3:c.1648C>T	p.Pro550Ser	p.P550S	ENST00000342988	NM_005359.5	550	Cct/Tct	0	not done		benign	
COL7A1		inserm.fr	GRCh37	3	48609559	48609559	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC451T																					ENST00000328333.8:c.7023+1G>A		p.X2341_splice	ENST00000328333	NM_000094.3			0	validated		possiblydamaging	
COL7A1		inserm.fr	GRCh37	3	48611928	48611928	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000328333.8:c.6449G>A	p.Gly2150Asp	p.G2150D	ENST00000328333	NM_000094.3	2150	gGc/gAc	0	not done		probablydamaging	
COL7A1		inserm.fr	GRCh37	3	48617020	48617020	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC1205T																					ENST00000328333.8:c.5235+1G>A		p.X1745_splice	ENST00000328333	NM_000094.3			0	not done		possiblydamaging	
COL7A1		inserm.fr	GRCh37	3	48619177	48619177	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2206T																					ENST00000328333.8:c.4684G>A	p.Ala1562Thr	p.A1562T	ENST00000328333	NM_000094.3	1562	Gct/Act	0	not done		possiblydamaging	
COL7A1		inserm.fr	GRCh37	3	48619789	48619789	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000328333.8:c.4602G>A	p.Gly1534=	p.G1534=	ENST00000328333	NM_000094.3	1534	ggG/ggA	0	not done		synonymous	
COL7A1		inserm.fr	GRCh37	3	48620852	48620852	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000328333.8:c.4411G>A	p.Gly1471Arg	p.G1471R	ENST00000328333	NM_000094.3	1471	Gga/Aga	0	not done		probablydamaging	
COL7A1		inserm.fr	GRCh37	3	48623403	48623403	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000328333.8:c.3729G>A	p.Arg1243=	p.R1243=	ENST00000328333	NM_000094.3	1243	cgG/cgA	0	not done		synonymous	
COL7A1		inserm.fr	GRCh37	3	48630859	48630859	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000328333.8:c.450G>A	p.Gly150=	p.G150=	ENST00000328333	NM_000094.3	150	ggG/ggA	0	not done		synonymous	
LIG1		inserm.fr	GRCh37	19	48643310	48643310	+	synonymous_variant	Silent	SNP	G	T	T			BCM275T																					ENST00000263274.7:c.1005C>A	p.Leu335=	p.L335=	ENST00000263274	NM_000234.1	335	ctC/ctA	0	validated		synonymous	
GATA1		inserm.fr	GRCh37	X	48652384	48652384	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000376670.3:c.1055G>T	p.Gly352Val	p.G352V	ENST00000376670	NM_002049.3	352	gGc/gTc	0	not done		possiblydamaging	
TMEM89		inserm.fr	GRCh37	3	48658440	48658440	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000330862.3:c.315G>A	p.Glu105=	p.E105=	ENST00000330862	NM_001008269.1	105	gaG/gaA	0	not done		synonymous	
SLC26A6		inserm.fr	GRCh37	3	48663788	48663788	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			BCM423T									Valid												ENST00000395550.2:c.2129-1G>A		p.X710_splice	ENST00000395550				0	validated		damaging	
SLC26A6		inserm.fr	GRCh37	3	48666148	48666148	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000395550.2:c.1600-1G>A		p.X534_splice	ENST00000395550				0	not done		damaging	
CACNA1G		inserm.fr	GRCh37	17	48668830	48668830	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000359106.5:c.2488C>T	p.Leu830=	p.L830=	ENST00000359106	NM_018896.4	830	Ctg/Ttg	0	not done		synonymous	
CACNA1G		inserm.fr	GRCh37	17	48680406	48680406	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC326T																					ENST00000359106.5:c.4015C>T	p.Gln1339Ter	p.Q1339*	ENST00000359106	NM_018896.4	1339	Cag/Tag	0	validated		damaging	
CELSR3		inserm.fr	GRCh37	3	48684241	48684241	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000164024.4:c.7250G>A	p.Gly2417Glu	p.G2417E	ENST00000164024	NM_001407.2	2417	gGg/gAg	0	not done		probablydamaging	
SLC5A9		inserm.fr	GRCh37	1	48688466	48688466	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC801T																					ENST00000236495.5:c.58G>T	p.Glu20Ter	p.E20*	ENST00000236495	NM_001135181.1	20	Gag/Tag	0	not done		damaging	
PCSK1N		inserm.fr	GRCh37	X	48690556	48690556	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2052T																					ENST00000218230.5:c.310C>A	p.Arg104Ser	p.R104S	ENST00000218230	NM_013271.3	104	Cgc/Agc	0	not done		probablydamaging	
PCSK1N		inserm.fr	GRCh37	X	48690625	48690625	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2103T																					ENST00000218230.5:c.241C>A	p.His81Asn	p.H81N	ENST00000218230	NM_013271.3	81	Cat/Aat	0	validated		probablydamaging	
CACNA1G		inserm.fr	GRCh37	17	48694855	48694855	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC465T									Valid												ENST00000359106.5:c.5078A>T	p.Glu1693Val	p.E1693V	ENST00000359106	NM_018896.4	1693	gAg/gTg	0	validated		possiblydamaging	
PTDSS2		inserm.fr	GRCh37	11	486954	486954	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB109T									Valid												ENST00000308020.5:c.451C>T	p.Arg151Trp	p.R151W	ENST00000308020	NM_030783.1	151	Cgg/Tgg	0	validated		probablydamaging	
CELSR3		inserm.fr	GRCh37	3	48697908	48697908	+	synonymous_variant	Silent	SNP	C	T	T			CHC794T																					ENST00000164024.4:c.2160G>A	p.Glu720=	p.E720=	ENST00000164024	NM_001407.2	720	gaG/gaA	0	validated		synonymous	
PPP1R21		inserm.fr	GRCh37	2	48713866	48713866	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC614T									Valid												ENST00000294952.8:c.1415C>T	p.Ser472Leu	p.S472L	ENST00000294952	NM_001135629.2	472	tCa/tTa	0	validated		possiblydamaging	
PPP1R21		inserm.fr	GRCh37	2	48713898	48713898	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC2103T																					ENST00000294952.8:c.1446+1G>T		p.X482_splice	ENST00000294952	NM_001135629.2			0	not done		damaging	
PRKDC		inserm.fr	GRCh37	8	48719865	48719865	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM337T																					ENST00000314191.2:c.9577G>A	p.Glu3193Lys	p.E3193K	ENST00000314191	NM_006904.6	3193	Gag/Aag	0	validated		synonymous	
H1FNT		inserm.fr	GRCh37	12	48723431	48723431	+	synonymous_variant	Silent	SNP	C	T	T			CHC2112T																					ENST00000335017.1:c.357C>T	p.Tyr119=	p.Y119=	ENST00000335017	NM_181788.1	119	taC/taT	0	not done		synonymous	
PPP1R21		inserm.fr	GRCh37	2	48725699	48725699	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC361TA									Valid												ENST00000294952.8:c.1760A>T	p.Gln587Leu	p.Q587L	ENST00000294952	NM_001135629.2	587	cAa/cTa	0	validated		probablydamaging	
CAMTA2		inserm.fr	GRCh37	17	4872975	4872975	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2110Tbis																					ENST00000414043.3:c.3280C>A	p.Gln1094Lys	p.Q1094K	ENST00000414043	NM_001171167.1	1094	Cag/Aag	0	validated		probablydamaging	
ABCC3		inserm.fr	GRCh37	17	48733274	48733274	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1148T																					ENST00000285238.8:c.127A>T	p.Ile43Phe	p.I43F	ENST00000285238	NM_003786.3	43	Atc/Ttc	0	not done		benign	
PRKDC		inserm.fr	GRCh37	8	48739230	48739230	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000314191.2:c.8767G>A	p.Val2923Met	p.V2923M	ENST00000314191	NM_006904.6	2923	Gtg/Atg	0	not done		benign	
RADIL		inserm.fr	GRCh37	7	4874601	4874601	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC896T																					ENST00000399583.3:c.1053C>A	p.Tyr351Ter	p.Y351*	ENST00000399583	NM_018059.4	351	taC/taA	0	not done		damaging	
TIMM17B		inserm.fr	GRCh37	X	48751482	48751482	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM501T																					ENST00000396779.3:c.367T>A	p.Phe123Ile	p.F123I	ENST00000396779	NM_001167947.1	123	Ttc/Atc	0	validated		probablydamaging	
TIMM17B		inserm.fr	GRCh37	X	48752670	48752670	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1180T																					ENST00000396779.3:c.241G>A	p.Val81Ile	p.V81I	ENST00000396779	NM_001167947.1	81	Gta/Ata	0	validated			
IP6K2		inserm.fr	GRCh37	3	48752838	48752838	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000328631.5:c.-131+1752G>A		*44*	ENST00000328631	NM_016291.3			0	not done			
ABCC3		inserm.fr	GRCh37	17	48762196	48762196	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000285238.8:c.4240G>T	p.Gly1414Cys	p.G1414C	ENST00000285238	NM_003786.3	1414	Ggc/Tgc	0	not done		probablydamaging	
TMEM189		inserm.fr	GRCh37	20	48770103	48770103	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000341698.2:c.72G>A	p.Trp24Ter	p.W24*	ENST00000341698	NM_001257399.1	24	tgG/tgA	0	not done		damaging	
FBN1		inserm.fr	GRCh37	15	48779272	48779272	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC1616T																					ENST00000316623.5:c.3589G>A	p.Asp1197Asn	p.D1197N	ENST00000316623	NM_000138.4	1197	Gac/Aac	0	not done		probablydamaging	
OTUD5		inserm.fr	GRCh37	X	48783156	48783156	+	synonymous_variant	Silent	SNP	C	T	T			CHC794T																					ENST00000156084.4:c.1245G>A	p.Glu415=	p.E415=	ENST00000156084	NM_017602.3	415	gaG/gaA	0	validated		synonymous	
OTUD5		inserm.fr	GRCh37	X	48783309	48783309	+	synonymous_variant	Silent	SNP	C	T	T			CHC794T																					ENST00000156084.4:c.1092G>A	p.Leu364=	p.L364=	ENST00000156084	NM_017602.3	364	ctG/ctA	0	validated		synonymous	
FBN1		inserm.fr	GRCh37	15	48800802	48800802	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM337T																					ENST00000316623.5:c.1814C>A	p.Ala605Glu	p.A605E	ENST00000316623	NM_000138.4	605	gCa/gAa	0	validated		benign	
FBN1		inserm.fr	GRCh37	15	48826291	48826291	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1183T																					ENST00000316623.5:c.848C>A	p.Ser283Ter	p.S283*	ENST00000316623	NM_000138.4	283	tCa/tAa	0	not done		damaging	
KCND1		inserm.fr	GRCh37	X	48826354	48826354	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC798T									Valid												ENST00000218176.3:c.325G>A	p.Glu109Lys	p.E109K	ENST00000218176	NM_004979.4	109	Gag/Aag	0	validated		probablydamaging	
GRIPAP1		inserm.fr	GRCh37	X	48830625	48830625	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2099T																					ENST00000376441.1:c.2506G>A	p.Glu836Lys	p.E836K	ENST00000376441	NM_020137.3	836	Gag/Aag	0	validated		benign	
ITM2B		inserm.fr	GRCh37	13	48832306	48832306	+	synonymous_variant	Silent	SNP	G	T	T			CHC1083T																					ENST00000378565.5:c.498G>T	p.Val166=	p.V166=	ENST00000378565	NM_021999.4	166	gtG/gtT	0	validated		synonymous	
OCIAD1		inserm.fr	GRCh37	4	48833546	48833546	+	intron_variant	Intron	SNP	G	T	T			CHC1531T																					ENST00000381473.3:c.-6+33G>T		*2*	ENST00000381473	NM_001079839.2			0	validated			
KDELR1		inserm.fr	GRCh37	19	48887593	48887593	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC2099T																					ENST00000330720.2:c.498G>A	p.Trp166Ter	p.W166*	ENST00000330720	NM_006801.2	166	tgG/tgA	0	not done		damaging	
TFE3		inserm.fr	GRCh37	X	48888035	48888035	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000315869.7:c.1362G>A	p.Ser454=	p.S454=	ENST00000315869	NM_006521.4	454	tcG/tcA	0	not done		synonymous	
TFE3		inserm.fr	GRCh37	X	48889026	48889026	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000315869.7:c.1170G>A	p.Lys390=	p.K390=	ENST00000315869	NM_006521.4	390	aaG/aaA	0	not done		synonymous	
TFE3		inserm.fr	GRCh37	X	48900702	48900702	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000315869.7:c.51G>A	p.Glu17=	p.E17=	ENST00000315869	NM_006521.4	17	gaG/gaA	0	not done		synonymous	
GRIN2D		inserm.fr	GRCh37	19	48908431	48908431	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000263269.3:c.906C>T	p.Ala302=	p.A302=	ENST00000263269	NM_000836.2	302	gcC/gcT	0	not done		synonymous	
RB1		inserm.fr	GRCh37	13	48916757	48916757	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM695T																					ENST00000267163.4:c.287A>T	p.Lys96Met	p.K96M	ENST00000267163	NM_000321.2	96	aAg/aTg	0	validated		probablydamaging	
GRIN2D		inserm.fr	GRCh37	19	48918197	48918197	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000263269.3:c.1489C>T	p.His497Tyr	p.H497Y	ENST00000263269	NM_000836.2	497	Cat/Tat	0	not done		benign	
CCDC120		inserm.fr	GRCh37	X	48920072	48920072	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000422185.2:c.123C>T	p.Thr41=	p.T41=	ENST00000422185	NM_001163322.2	41	acC/acT	0	not done		synonymous	
GRIN2D		inserm.fr	GRCh37	19	48922601	48922601	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000263269.3:c.1846C>T	p.Leu616=	p.L616=	ENST00000263269	NM_000836.2	616	Ctg/Ttg	0	not done		synonymous	
GRIN2D		inserm.fr	GRCh37	19	48923056	48923056	+	synonymous_variant	Silent	SNP	G	T	T			CHC432T																					ENST00000263269.3:c.2076G>T	p.Gly692=	p.G692=	ENST00000263269	NM_000836.2	692	ggG/ggT	0	not done		synonymous	
WDR45		inserm.fr	GRCh37	X	48932926	48932926	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1154T																					ENST00000356463.3:c.845G>A	p.Gly282Asp	p.G282D	ENST00000356463	NM_007075.3	282	gGc/gAc	0	not done		probablydamaging	
WDR45		inserm.fr	GRCh37	X	48933585	48933585	+	synonymous_variant	Silent	SNP	G	T	T			CHC2200T																					ENST00000356463.3:c.459C>A	p.Pro153=	p.P153=	ENST00000356463	NM_007075.3	153	ccC/ccA	0	validated		synonymous	
RB1		inserm.fr	GRCh37	13	48936983	48936983	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC2208T																					ENST00000267163.4:c.751C>T	p.Arg251Ter	p.R251*	ENST00000267163	NM_000321.2	251	Cga/Tga	0	not done		damaging	
RB1		inserm.fr	GRCh37	13	48937028	48937028	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC909T																					ENST00000267163.4:c.796C>T	p.Gln266Ter	p.Q266*	ENST00000267163	NM_000321.2	266	Caa/Taa	0	not done		damaging	
RB1		inserm.fr	GRCh37	13	48941628	48941628	+	splice_acceptor_variant	Splice_Site	SNP	A	T	T			BCM397T									Valid												ENST00000267163.4:c.940-2A>T		p.X314_splice	ENST00000267163	NM_000321.2			0	validated		damaging	
RB1		inserm.fr	GRCh37	13	48951132	48951132	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1720T																					ENST00000267163.4:c.1294A>T	p.Lys432Ter	p.K432*	ENST00000267163	NM_000321.2	432	Aaa/Taa	0	not done		damaging	
ARIH2OS		inserm.fr	GRCh37	3	48956335	48956335	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC197T																					ENST00000408959.2:c.248G>A	p.Arg83Gln	p.R83Q	ENST00000408959	NM_001123040.1	83	cGg/cAg	0	validated		possiblydamaging	
KCNJ14		inserm.fr	GRCh37	19	48965013	48965013	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1207T																					ENST00000391884.1:c.32G>T	p.Ser11Ile	p.S11I	ENST00000391884		11	aGc/aTc	0	validated		unknown	
KCNJ14		inserm.fr	GRCh37	19	48965065	48965065	+	synonymous_variant	Silent	SNP	G	T	T			CHC1753T																					ENST00000391884.1:c.84G>T	p.Gly28=	p.G28=	ENST00000391884		28	ggG/ggT	0	not done		synonymous	
GPKOW		inserm.fr	GRCh37	X	48976081	48976081	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000156109.5:c.543G>A	p.Glu181=	p.E181=	ENST00000156109	NM_015698.4	181	gaG/gaA	0	not done		synonymous	
CWH43		inserm.fr	GRCh37	4	48994078	48994078	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000226432.4:c.482C>T	p.Ala161Val	p.A161V	ENST00000226432	NM_025087.2	161	gCc/gTc	0	not done		benign	
LMTK3		inserm.fr	GRCh37	19	48997063	48997063	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000270238.3:c.4067G>A	p.Arg1356Gln	p.R1356Q	ENST00000270238	NM_001080434.1	1356	cGg/cAg	0	not done		probablydamaging	
LMTK3		inserm.fr	GRCh37	19	49000742	49000742	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC059T																					ENST00000270238.3:c.3671G>A	p.Gly1224Glu	p.G1224E	ENST00000270238	NM_001080434.1	1224	gGg/gAg	0	validated		benign	
LMTK3		inserm.fr	GRCh37	19	49001250	49001250	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000270238.3:c.3163G>A	p.Ala1055Thr	p.A1055T	ENST00000270238	NM_001080434.1	1055	Gcc/Acc	0	not done		benign	
LMTK3		inserm.fr	GRCh37	19	49001997	49001997	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000270238.3:c.2416G>A	p.Ala806Thr	p.A806T	ENST00000270238	NM_001080434.1	806	Gcc/Acc	0	not done		probablydamaging	
LMTK3		inserm.fr	GRCh37	19	49002733	49002733	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1744T																					ENST00000270238.3:c.1680C>A	p.Ser560Arg	p.S560R	ENST00000270238	NM_001080434.1	560	agC/agA	0	validated		probablydamaging	
PAPOLB		inserm.fr	GRCh37	7	4901084	4901084	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB157T																					ENST00000404991.1:c.355G>A	p.Val119Ile	p.V119I	ENST00000404991	NM_020144.4	119	Gtt/Att	0	validated		probablydamaging	
MAGIX		inserm.fr	GRCh37	X	49020138	49020138	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000412696.2:c.67C>T	p.Leu23Phe	p.L23F	ENST00000412696	NM_024859.2	23	Ctc/Ttc	0	not done		benign	
PLP2		inserm.fr	GRCh37	X	49028354	49028354	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1738T																					ENST00000376327.5:c.7G>T	p.Asp3Tyr	p.D3Y	ENST00000376327	NM_002668.2	3	Gat/Tat	0	not done		probablydamaging	
PRICKLE3		inserm.fr	GRCh37	X	49041162	49041162	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1738T																					ENST00000376317.3:c.44C>A	p.Pro15His	p.P15H	ENST00000376317	NM_006150.3	15	cCt/cAt	0	not done		damaging	
WDR6		inserm.fr	GRCh37	3	49049916	49049916	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1763T																					ENST00000395474.3:c.1039G>T	p.Gly347Cys	p.G347C	ENST00000395474	NM_018031.3	347	Ggt/Tgt	0	not done		probablydamaging	
WDR6		inserm.fr	GRCh37	3	49051475	49051475	+	synonymous_variant	Silent	SNP	G	T	T			CHC1731T																					ENST00000395474.3:c.2598G>T	p.Ser866=	p.S866=	ENST00000395474	NM_018031.3	866	tcG/tcT	0	not done		synonymous	
QRICH1		inserm.fr	GRCh37	3	49070155	49070155	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000395443.2:c.1947G>A	p.Lys649=	p.K649=	ENST00000395443	NM_198880.1	649	aaG/aaA	0	not done		synonymous	
CACNA1F		inserm.fr	GRCh37	X	49071661	49071661	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000376265.2:c.3515G>A	p.Arg1172His	p.R1172H	ENST00000376265	NM_005183.2	1172	cGt/cAt	0	validated		probablydamaging	
CACNA1F		inserm.fr	GRCh37	X	49083580	49083580	+	synonymous_variant	Silent	SNP	G	T	T			CHC1052T																					ENST00000376265.2:c.1128C>A	p.Ser376=	p.S376=	ENST00000376265	NM_005183.2	376	tcC/tcA	0	validated		synonymous	
CEP152		inserm.fr	GRCh37	15	49085621	49085621	+	synonymous_variant	Silent	SNP	A	T	T			CHC609T																					ENST00000380950.2:c.729T>A	p.Val243=	p.V243=	ENST00000380950	NM_001194998.1	243	gtT/gtA	0	validated		synonymous	
RCBTB2		inserm.fr	GRCh37	13	49086298	49086298	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000344532.3:c.529G>A	p.Gly177Ser	p.G177S	ENST00000344532	NM_001268.2	177	Ggt/Agt	0	not done		probablydamaging	
SULT2B1		inserm.fr	GRCh37	19	49100175	49100175	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	T	T			CHC1725T																					ENST00000201586.2:c.825A>T	p.Lys275Asn	p.K275N	ENST00000201586	NM_177973.1	275	aaA/aaT	0	not done		probablydamaging	
FOXP3		inserm.fr	GRCh37	X	49114207	49114207	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000376207.4:c.229G>A	p.Val77Ile	p.V77I	ENST00000376207	NM_014009.3	77	Gtc/Atc	0	not done		possiblydamaging	
QRICH1		inserm.fr	GRCh37	3	49114343	49114343	+	synonymous_variant	Silent	SNP	A	T	T			CHC2098T																					ENST00000395443.2:c.108T>A	p.Ser36=	p.S36=	ENST00000395443	NM_198880.1	36	tcT/tcA	0	not done		synonymous	
SPHK2		inserm.fr	GRCh37	19	49129368	49129368	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM501T																					ENST00000245222.4:c.260C>T	p.Pro87Leu	p.P87L	ENST00000245222	NM_001204158.2	87	cCc/cTc	0	validated		possiblydamaging	
QARS1		inserm.fr	GRCh37	3	49137524	49137524	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			BCM375T									Valid												ENST00000306125.6:c.1165G>A	p.Ala389Thr	p.A389T	ENST00000306125	NM_001272073.1	389	Gca/Aca	0	validated		damaging	
CA11		inserm.fr	GRCh37	19	49142706	49142706	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000084798.4:c.651C>A	p.Tyr217Ter	p.Y217*	ENST00000084798	NM_001217.3	217	taC/taA	0	not done		damaging	
USP19		inserm.fr	GRCh37	3	49147619	49147619	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC736T									Valid												ENST00000434032.2:c.4030C>A	p.Gln1344Lys	p.Q1344K	ENST00000434032	NM_001199160.1	1344	Cag/Aag	0	validated		probablydamaging	
LAMB2		inserm.fr	GRCh37	3	49159195	49159195	+	synonymous_variant	Silent	SNP	C	T	T			CHC1600T																					ENST00000418109.1:c.5022G>A	p.Arg1674=	p.R1674=	ENST00000418109	NM_002292.3	1674	cgG/cgA	0	not done		synonymous	
LAMB2		inserm.fr	GRCh37	3	49162011	49162011	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000418109.1:c.3144G>A	p.Gln1048=	p.Q1048=	ENST00000418109	NM_002292.3	1048	caG/caA	0	not done		synonymous	
ADCY6		inserm.fr	GRCh37	12	49167264	49167264	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000307885.4:c.2609G>A	p.Gly870Asp	p.G870D	ENST00000307885	NM_015270.3	870	gGc/gAc	0	not done		benign	
FSHR		inserm.fr	GRCh37	2	49191106	49191106	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000406846.2:c.855-1G>A		p.X285_splice	ENST00000406846	NM_000145.3			0	not done		damaging	
UBN1		inserm.fr	GRCh37	16	4920221	4920221	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2362T																					ENST00000396658.4:c.1190C>T	p.Ala397Val	p.A397V	ENST00000396658	NM_016936.3	397	gCg/gTg	0	validated		benign	
KLHDC8B		inserm.fr	GRCh37	3	49211797	49211797	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1751T																					ENST00000332780.2:c.502G>T	p.Ala168Ser	p.A168S	ENST00000332780	NM_173546.2	168	Gcc/Tcc	0	not done		probablydamaging	
FAM65C		inserm.fr	GRCh37	20	49225474	49225474	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000327979.2:c.647G>A	p.Arg216His	p.R216H	ENST00000327979		216	cGc/cAc	0	validated		probablydamaging	
DDX23		inserm.fr	GRCh37	12	49225940	49225940	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM735T																					ENST00000308025.3:c.1985G>A	p.Gly662Asp	p.G662D	ENST00000308025	NM_004818.2	662	gGc/gAc	0	validated		benign	
DDX23		inserm.fr	GRCh37	12	49227282	49227282	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000308025.3:c.1581G>A	p.Gly527=	p.G527=	ENST00000308025	NM_004818.2	527	ggG/ggA	0	not done		synonymous	
RASIP1		inserm.fr	GRCh37	19	49227734	49227734	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1591T																					ENST00000222145.4:c.2404G>A	p.Ala802Thr	p.A802T	ENST00000222145	NM_017805.2	802	Gct/Act	0	not done		probablydamaging	
RASIP1		inserm.fr	GRCh37	19	49232378	49232378	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000222145.4:c.1649G>A	p.Arg550His	p.R550H	ENST00000222145	NM_017805.2	550	cGc/cAc	0	not done		benign	
IZUMO1		inserm.fr	GRCh37	19	49244590	49244590	+	synonymous_variant	Silent	SNP	G	T	T			CHC1749T																					ENST00000332955.2:c.900C>A	p.Gly300=	p.G300=	ENST00000332955	NM_182575.2	300	ggC/ggA	0	validated		synonymous	
FUT1		inserm.fr	GRCh37	19	49253722	49253722	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC884T																					ENST00000310160.3:c.817G>A	p.Asp273Asn	p.D273N	ENST00000310160	NM_000148.3	273	Gac/Aac	0	validated		probablydamaging	
FUT1		inserm.fr	GRCh37	19	49254122	49254122	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000310160.3:c.417G>A	p.Thr139=	p.T139=	ENST00000310160	NM_000148.3	139	acG/acA	0	not done		synonymous	
OR51A7		inserm.fr	GRCh37	11	4929078	4929078	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC326T									Valid												ENST00000359350.4:c.479C>T	p.Pro160Leu	p.P160L	ENST00000359350	NM_001004749.1	160	cCc/cTc	0	validated		benign	
CCDC36		inserm.fr	GRCh37	3	49294169	49294169	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000438782.1:c.1239C>T	p.Ala413=	p.A413=	ENST00000438782		413	gcC/gcT	0	not done		synonymous	
BCAT2		inserm.fr	GRCh37	19	49299949	49299949	+	synonymous_variant	Silent	SNP	C	T	T			CHC1154T																					ENST00000316273.6:c.951G>A	p.Thr317=	p.T317=	ENST00000316273	NM_001190.3	317	acG/acA	0	not done		synonymous	
HSD17B14		inserm.fr	GRCh37	19	49339622	49339622	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1708T																					ENST00000263278.4:c.47G>A	p.Gly16Glu	p.G16E	ENST00000263278	NM_016246.2	16	gGg/gAg	0	not done		probablydamaging	
PPL		inserm.fr	GRCh37	16	4935089	4935089	+	synonymous_variant	Silent	SNP	C	T	T			CHC794T																					ENST00000345988.2:c.3567G>A	p.Ala1189=	p.A1189=	ENST00000345988	NM_002705.4	1189	gcG/gcA	0	validated		synonymous	
WNT10B		inserm.fr	GRCh37	12	49360120	49360120	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1534T																					ENST00000301061.4:c.928T>A	p.Tyr310Asn	p.Y310N	ENST00000301061	NM_003394.3	310	Tac/Aac	0	validated		probablydamaging	
WNT10B		inserm.fr	GRCh37	12	49364286	49364286	+	synonymous_variant	Silent	SNP	A	T	T			CHC2208T																					ENST00000301061.4:c.27T>A	p.Pro9=	p.P9=	ENST00000301061	NM_003394.3	9	ccT/ccA	0	not done		synonymous	
WNT10B		inserm.fr	GRCh37	12	49364293	49364293	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2208T																					ENST00000301061.4:c.20C>A	p.Pro7Gln	p.P7Q	ENST00000301061	NM_003394.3	7	cCg/cAg	0	not done		benign	
WNT1		inserm.fr	GRCh37	12	49373460	49373460	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000293549.3:c.314C>T	p.Pro105Leu	p.P105L	ENST00000293549	NM_005430.3	105	cCc/cTc	0	not done		probablydamaging	
PPP1R15A		inserm.fr	GRCh37	19	49377406	49377406	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC917T																					ENST00000200453.5:c.916C>T	p.Pro306Ser	p.P306S	ENST00000200453	NM_014330.3	306	Ccc/Tcc	0	validated		benign	
USP4		inserm.fr	GRCh37	3	49377438	49377438	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265560.4:c.20G>A	p.Cys7Tyr	p.C7Y	ENST00000265560	NM_003363.3	7	tGc/tAc	0	not done		benign	
DDN		inserm.fr	GRCh37	12	49390899	49390899	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC437T																					ENST00000421952.2:c.1760C>A	p.Ser587Ter	p.S587*	ENST00000421952	NM_015086.1	587	tCg/tAg	0	not done		damaging	
FRMPD2		inserm.fr	GRCh37	10	49392907	49392907	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000374201.3:c.2377G>A	p.Gly793Arg	p.G793R	ENST00000374201	NM_001018071.3	793	Gga/Aga	0	not done		probablydamaging	
TULP2		inserm.fr	GRCh37	19	49398679	49398679	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1754T																					ENST00000221399.3:c.293G>A	p.Ser98Asn	p.S98N	ENST00000221399	NM_003323.2	98	aGc/aAc	0	not done		probablydamaging	
MUT		inserm.fr	GRCh37	6	49407973	49407973	+	synonymous_variant	Silent	SNP	A	T	T			BCM399T																					ENST00000274813.3:c.1902T>A	p.Ile634=	p.I634=	ENST00000274813	NM_000255.3	634	atT/atA	0	validated		synonymous	
MLL2		inserm.fr	GRCh37	12	49421082	49421082	+	synonymous_variant	Silent	SNP	G	T	T			CHC304T																					ENST00000301067.7:c.14667C>A	p.Pro4889=	p.P4889=	ENST00000301067	NM_003482.3	4889	ccC/ccA	0	validated		synonymous	
MLL2		inserm.fr	GRCh37	12	49422616	49422616	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC801T																					ENST00000301067.7:c.14377G>A	p.Ala4793Thr	p.A4793T	ENST00000301067	NM_003482.3	4793	Gcc/Acc	0	not done		probablydamaging	
COPS2		inserm.fr	GRCh37	15	49426592	49426592	+	synonymous_variant	Silent	SNP	C	T	T			CHC1629T																					ENST00000299259.6:c.681G>A	p.Gln227=	p.Q227=	ENST00000299259		227	caG/caA	0	validated		synonymous	
MLL2		inserm.fr	GRCh37	12	49427365	49427365	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000301067.7:c.11123G>A	p.Ser3708Asn	p.S3708N	ENST00000301067	NM_003482.3	3708	aGc/aAc	0	not done		benign	
COPS2		inserm.fr	GRCh37	15	49436469	49436469	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000299259.6:c.201G>A	p.Trp67Ter	p.W67*	ENST00000299259		67	tgG/tgA	0	not done		damaging	
MLL2		inserm.fr	GRCh37	12	49436875	49436875	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1746T																					ENST00000301067.7:c.5628C>A	p.Asp1876Glu	p.D1876E	ENST00000301067	NM_003482.3	1876	gaC/gaA	0	not done		probablydamaging	
MLL2		inserm.fr	GRCh37	12	49437710	49437710	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2052T																					ENST00000301067.7:c.5260C>A	p.Gln1754Lys	p.Q1754K	ENST00000301067	NM_003482.3	1754	Caa/Aaa	0	not done		benign	
OR51G1		inserm.fr	GRCh37	11	4944762	4944762	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC320T																					ENST00000321961.2:c.808C>A	p.Leu270Met	p.L270M	ENST00000321961	NM_001005237.1	270	Ctg/Atg	0	validated		benign	
MLL2		inserm.fr	GRCh37	12	49448310	49448310	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000301067.7:c.400+1G>A		p.X134_splice	ENST00000301067	NM_003482.3			0	not done		damaging	
MLL2		inserm.fr	GRCh37	12	49448412	49448412	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000301067.7:c.299G>A	p.Gly100Glu	p.G100E	ENST00000301067	NM_003482.3	100	gGg/gAg	0	not done		benign	
TDRP		inserm.fr	GRCh37	8	494744	494744	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000523656.1:c.14G>A	p.Gly5Asp	p.G5D	ENST00000523656	NM_175075.4	5	gGc/gAc	0	not done		benign	
ADNP		inserm.fr	GRCh37	20	49508089	49508089	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1180T																					ENST00000396029.3:c.3162T>A	p.Asp1054Glu	p.D1054E	ENST00000396029	NM_015339.2	1054	gaT/gaA	0	validated		benign	
RUVBL2		inserm.fr	GRCh37	19	49517796	49517796	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC451T																					ENST00000595090.1:c.1057C>T	p.Arg353Trp	p.R353W	ENST00000595090	NM_006666.1	353	Cgg/Tgg	0	validated		probablydamaging	
C6orf141		inserm.fr	GRCh37	6	49518593	49518593	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2200T																					ENST00000529246.2:c.88G>T	p.Gly30Trp	p.G30W	ENST00000529246	NM_001145652.1	30	Ggg/Tgg	0	not done		possiblydamaging	
CGB8		inserm.fr	GRCh37	19	49551501	49551501	+	synonymous_variant	Silent	SNP	G	T	T			CHC429T																					ENST00000448456.3:c.144C>A	p.Thr48=	p.T48=	ENST00000448456	NM_033183.2	48	acC/acA	0	validated		synonymous	
KCNA7		inserm.fr	GRCh37	19	49573917	49573917	+	synonymous_variant	Silent	SNP	G	T	T			BCM397T																					ENST00000221444.1:c.774C>A	p.Gly258=	p.G258=	ENST00000221444	NM_031886.2	258	ggC/ggA	0	validated		synonymous	
KCNA7		inserm.fr	GRCh37	19	49575644	49575644	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000221444.1:c.199G>A	p.Ala67Thr	p.A67T	ENST00000221444	NM_031886.2	67	Gcc/Acc	0	not done		probablydamaging	
MOCS3		inserm.fr	GRCh37	20	49576473	49576473	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1065T									Valid												ENST00000244051.1:c.1094G>T	p.Cys365Phe	p.C365F	ENST00000244051	NM_014484.4	365	tGt/tTt	0	validated		probablydamaging	
KCNG1		inserm.fr	GRCh37	20	49621243	49621243	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371571.4:c.875G>A	p.Ser292Asn	p.S292N	ENST00000371571	NM_002237.3	292	aGc/aAc	0	not done		benign	
KCNG1		inserm.fr	GRCh37	20	49621248	49621248	+	synonymous_variant	Silent	SNP	C	T	T			CHC1534T																					ENST00000371571.4:c.870G>A	p.Ala290=	p.A290=	ENST00000371571	NM_002237.3	290	gcG/gcA	0	validated		synonymous	
HRC		inserm.fr	GRCh37	19	49654775	49654775	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1568T																					ENST00000252825.4:c.2062C>A	p.Gln688Lys	p.Q688K	ENST00000252825	NM_002152.2	688	Cag/Aag	0	not done		possiblydamaging	
TUBA1C		inserm.fr	GRCh37	12	49666831	49666831	+	synonymous_variant	Silent	SNP	C	T	T			CHC898T																					ENST00000301072.6:c.1171C>T	p.Leu391=	p.L391=	ENST00000301072	NM_032704.3	391	Ctg/Ttg	0	not done		synonymous	
CRISP2		inserm.fr	GRCh37	6	49667576	49667576	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1731T																					ENST00000339139.4:c.212C>A	p.Ala71Asp	p.A71D	ENST00000339139	NM_001261822.1	71	gCc/gAc	0	not done		probablydamaging	
ZNF423		inserm.fr	GRCh37	16	49670825	49670825	+	synonymous_variant	Silent	SNP	C	T	T			CHC1566T																					ENST00000561648.1:c.2238G>A	p.Glu746=	p.E746=	ENST00000561648	NM_015069.3	746	gaG/gaA	0	not done		synonymous	
ZNF423		inserm.fr	GRCh37	16	49671893	49671893	+	synonymous_variant	Silent	SNP	C	T	T			CHC805T																					ENST00000561648.1:c.1170G>A	p.Pro390=	p.P390=	ENST00000561648	NM_015069.3	390	ccG/ccA	0	not done		synonymous	
PRPH		inserm.fr	GRCh37	12	49689500	49689500	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000257860.4:c.517G>T	p.Ala173Ser	p.A173S	ENST00000257860	NM_006262.3	173	Gcg/Tcg	0	validated		benign	
BSN		inserm.fr	GRCh37	3	49698993	49698993	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC2127T																					ENST00000296452.4:c.9715G>T	p.Glu3239Ter	p.E3239*	ENST00000296452	NM_003458.3	3239	Gaa/Taa	0	not done		damaging	
TRPM4		inserm.fr	GRCh37	19	49704039	49704039	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000252826.5:c.2950G>T	p.Asp984Tyr	p.D984Y	ENST00000252826	NM_017636.3	984	Gac/Tac	0	not done		probablydamaging	
AMIGO3		inserm.fr	GRCh37	3	49755396	49755396	+	synonymous_variant	Silent	SNP	G	T	T			CHC1603T																					ENST00000535833.1:c.1503C>A	p.Pro501=	p.P501=	ENST00000535833		501	ccC/ccA	0	not done		synonymous	
AMIGO3		inserm.fr	GRCh37	3	49756360	49756360	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1712T																					ENST00000535833.1:c.539T>A	p.Leu180Gln	p.L180Q	ENST00000535833		180	cTg/cAg	0	not done		probablydamaging	
FNDC3A		inserm.fr	GRCh37	13	49765487	49765487	+	synonymous_variant	Silent	SNP	C	T	T			CHC879T																					ENST00000492622.2:c.2193C>T	p.Tyr731=	p.Y731=	ENST00000492622	NM_001079673.1	731	taC/taT	0	not done		synonymous	
SLC6A16		inserm.fr	GRCh37	19	49812345	49812345	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1743T																					ENST00000335875.4:c.1017G>A	p.Trp339Ter	p.W339*	ENST00000335875	NM_014037.2	339	tgG/tgA	0	not done		damaging	
FAM212A		inserm.fr	GRCh37	3	49841656	49841656	+	synonymous_variant	Silent	SNP	C	T	T			CHC1602T																					ENST00000333323.4:c.100C>T	p.Leu34=	p.L34=	ENST00000333323	NM_203370.1	34	Ctg/Ttg	0	validated		synonymous	
FAM212A		inserm.fr	GRCh37	3	49841915	49841915	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1592T																					ENST00000333323.4:c.359C>T	p.Ser120Leu	p.S120L	ENST00000333323	NM_203370.1	120	tCa/tTa	0	not done		benign	
FAM212A		inserm.fr	GRCh37	3	49842148	49842148	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000333323.4:c.592C>T	p.His198Tyr	p.H198Y	ENST00000333323	NM_203370.1	198	Cac/Tac	0	not done		possiblydamaging	
VWC2		inserm.fr	GRCh37	7	49842347	49842347	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC902T																					ENST00000340652.4:c.737A>T	p.Glu246Val	p.E246V	ENST00000340652	NM_198570.3	246	gAg/gTg	0	not done		probablydamaging	
UBA7		inserm.fr	GRCh37	3	49843386	49843386	+	synonymous_variant	Silent	SNP	G	T	T			CHC197T																					ENST00000333486.3:c.2853C>A	p.Ala951=	p.A951=	ENST00000333486	NM_003335.2	951	gcC/gcA	0	validated		synonymous	
UBA7		inserm.fr	GRCh37	3	49845262	49845262	+	synonymous_variant	Silent	SNP	C	T	T			CHC801T																					ENST00000333486.3:c.2622G>A	p.Gly874=	p.G874=	ENST00000333486	NM_003335.2	874	ggG/ggA	0	not done		synonymous	
TRAIP		inserm.fr	GRCh37	3	49879373	49879373	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC433T									Valid												ENST00000331456.2:c.504-1G>A		p.X168_splice	ENST00000331456	NM_005879.2			0	validated		damaging	
CCDC155		inserm.fr	GRCh37	19	49902391	49902391	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC361TA									Valid												ENST00000447857.3:c.739C>T	p.Arg247Trp	p.R247W	ENST00000447857	NM_144688.4	247	Cgg/Tgg	0	validated		probablydamaging	
DEFB133		inserm.fr	GRCh37	6	49913928	49913928	+	synonymous_variant	Silent	SNP	G	T	T			CHC1738T																					ENST00000398721.2:c.72C>A	p.Ala24=	p.A24=	ENST00000398721	NM_001166478.1	24	gcC/gcA	0	not done		synonymous	
MST1R		inserm.fr	GRCh37	3	49934780	49934780	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000296474.3:c.2116G>A	p.Gly706Ser	p.G706S	ENST00000296474	NM_002447.2	706	Ggc/Agc	0	not done		probablydamaging	
SLC17A7		inserm.fr	GRCh37	19	49937217	49937217	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000221485.3:c.724G>A	p.Gly242Ser	p.G242S	ENST00000221485	NM_020309.3	242	Ggc/Agc	0	validated		probablydamaging	
SLC17A7		inserm.fr	GRCh37	19	49939806	49939806	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC121T									Valid												ENST00000221485.3:c.315G>A	p.Gln105=	p.Q105=	ENST00000221485	NM_020309.3	105	caG/caA	0	validated		possiblydamaging	
VWC2		inserm.fr	GRCh37	7	49951637	49951637	+	synonymous_variant	Silent	SNP	C	T	T			CHC432T																					ENST00000340652.4:c.834C>T	p.Asn278=	p.N278=	ENST00000340652	NM_198570.3	278	aaC/aaT	0	not done		synonymous	
VWC2		inserm.fr	GRCh37	7	49951746	49951746	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM545T																					ENST00000340652.4:c.943G>T	p.Ala315Ser	p.A315S	ENST00000340652	NM_198570.3	315	Gcc/Tcc	0	validated		probablydamaging	
ZFP3		inserm.fr	GRCh37	17	4995775	4995775	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1186T																					ENST00000318833.3:c.976C>T	p.Arg326Trp	p.R326W	ENST00000318833	NM_153018.2	326	Cgg/Tgg	0	not done		probablydamaging	
AKAP4		inserm.fr	GRCh37	X	49963379	49963379	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1753T																					ENST00000358526.2:c.52C>A	p.Arg18Ser	p.R18S	ENST00000358526	NM_003886.2	18	Cgc/Agc	0	not done		benign	
ZPBP		inserm.fr	GRCh37	7	49977133	49977133	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000046087.2:c.1047G>A	p.Thr349=	p.T349=	ENST00000046087	NM_007009.2	349	acG/acA	0	not done		synonymous	
FLT3LG		inserm.fr	GRCh37	19	49982237	49982237	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000594009.1:c.414G>T	p.Leu138=	p.L138=	ENST00000594009	NM_001204503.1	138	ctG/ctT	0	validated		synonymous	
WDFY4		inserm.fr	GRCh37	10	49985535	49985535	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC892T																					ENST00000325239.5:c.3170G>T	p.Gly1057Val	p.G1057V	ENST00000325239	NM_020945.1	1057	gGg/gTg	0	not done		probablydamaging	
RBM6		inserm.fr	GRCh37	3	50006010	50006010	+	synonymous_variant	Silent	SNP	G	T	T			CHC1626T																					ENST00000266022.4:c.1152G>T	p.Leu384=	p.L384=	ENST00000266022	NM_005777.2	384	ctG/ctT	0	not done		synonymous	
MIR3667HG		inserm.fr	GRCh37	22	50018551	50018551	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000400023.1:c.89G>A	p.Arg30Gln	p.R30Q	ENST00000400023		30	cGg/cAg	0	not done			
WDFY4		inserm.fr	GRCh37	10	50025321	50025321	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM339T																					ENST00000325239.5:c.5372C>T	p.Ala1791Val	p.A1791V	ENST00000325239	NM_020945.1	1791	gCa/gTa	0	validated		benign	
FMNL3		inserm.fr	GRCh37	12	50043082	50043082	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2112T																					ENST00000335154.5:c.2345G>A	p.Arg782Gln	p.R782Q	ENST00000335154	NM_175736.4	782	cGg/cAg	0	not done		probablydamaging	
FMNL3		inserm.fr	GRCh37	12	50050974	50050974	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000335154.5:c.606-1G>A		p.X202_splice	ENST00000335154	NM_175736.4			0	not done		damaging	
NOSIP		inserm.fr	GRCh37	19	50060500	50060500	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1152T																					ENST00000391853.3:c.265G>A	p.Glu89Lys	p.E89K	ENST00000391853	NM_015953.4	89	Gag/Aag	0	not done		benign	
PARP8		inserm.fr	GRCh37	5	50084402	50084402	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000281631.5:c.716G>T	p.Gly239Val	p.G239V	ENST00000281631	NM_024615.3	239	gGa/gTa	0	not done		probablydamaging	
CCNB3		inserm.fr	GRCh37	X	50094244	50094244	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000376042.1:c.3965C>T	p.Pro1322Leu	p.P1322L	ENST00000376042		1322	cCc/cTc	0	not done		probablydamaging	
PRR12		inserm.fr	GRCh37	19	50098592	50098592	+	synonymous_variant	Silent	SNP	C	T	T			CHC1186T																					ENST00000418929.2:c.1000C>T	p.Leu334=	p.L334=	ENST00000418929	NM_020719.1	334	Ctg/Ttg	0	validated		synonymous	
PRR12		inserm.fr	GRCh37	19	50100701	50100701	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM275T																					ENST00000418929.2:c.3109G>T	p.Ala1037Ser	p.A1037S	ENST00000418929	NM_020719.1	1037	Gcg/Tcg	0	validated		benign	
DNAAF2		inserm.fr	GRCh37	14	50100808	50100808	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1152T																					ENST00000298292.8:c.1060C>A	p.Arg354Ser	p.R354S	ENST00000298292	NM_018139.2	354	Cgc/Agc	0	validated		possiblydamaging	
DNAAF2		inserm.fr	GRCh37	14	50100996	50100996	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC879T																					ENST00000298292.8:c.872T>A	p.Leu291Gln	p.L291Q	ENST00000298292	NM_018139.2	291	cTg/cAg	0	not done		probablydamaging	
DNAAF2		inserm.fr	GRCh37	14	50101096	50101096	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM265T									Valid												ENST00000298292.8:c.772G>A	p.Val258Met	p.V258M	ENST00000298292	NM_018139.2	258	Gtg/Atg	0	validated		possiblydamaging	
PRR12		inserm.fr	GRCh37	19	50119266	50119266	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM683T																					ENST00000418929.2:c.5287C>T	p.Arg1763Trp	p.R1763W	ENST00000418929	NM_020719.1	1763	Cgg/Tgg	0	validated		benign	
DGKK		inserm.fr	GRCh37	X	50121123	50121123	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC2134T																					ENST00000376025.2:n.3144G>A		*1048*	ENST00000376025				0	not done		synonymous	
DGKK		inserm.fr	GRCh37	X	50127724	50127724	+	non_coding_transcript_exon_variant	RNA	SNP	G	T	T			CHC433T																					ENST00000376025.2:n.2506C>A		*836*	ENST00000376025				0	validated		synonymous	
DGKK		inserm.fr	GRCh37	X	50130652	50130652	+	splice_acceptor_variant,non_coding_transcript_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000376025.2:n.2079-1G>A		p.X693_splice	ENST00000376025				0	not done		damaging	
POLE2		inserm.fr	GRCh37	14	50133115	50133115	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T																					ENST00000216367.5:c.509C>A	p.Thr170Asn	p.T170N	ENST00000216367	NM_002692.3	170	aCc/aAc	0	validated		benign	
TMBIM6		inserm.fr	GRCh37	12	50135950	50135950	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1741T																					ENST00000423828.1:c.31C>T	p.Pro11Ser	p.P11S	ENST00000423828	NM_001098576.1	11	Cct/Tct	0	not done		benign	
ZNF232		inserm.fr	GRCh37	17	5015104	5015104	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000250076.3:c.14G>A	p.Gly5Asp	p.G5D	ENST00000250076	NM_014519.2	5	gGt/gAt	0	not done		benign	
ATP8B4		inserm.fr	GRCh37	15	50154511	50154511	+	synonymous_variant	Silent	SNP	C	T	T			CHC218T																					ENST00000284509.6:c.3228G>A	p.Val1076=	p.V1076=	ENST00000284509	NM_024837.3	1076	gtG/gtA	0	not done		synonymous	
SCAF1		inserm.fr	GRCh37	19	50156852	50156852	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2358T																					ENST00000360565.3:c.3206G>T	p.Gly1069Val	p.G1069V	ENST00000360565	NM_021228.2	1069	gGg/gTg	0	validated		probablydamaging	
AGBL4		inserm.fr	GRCh37	1	50163014	50163014	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1741T																					ENST00000371839.1:c.253T>A	p.Phe85Ile	p.F85I	ENST00000371839	NM_032785.3	85	Ttt/Att	0	not done		probablydamaging	
BRD1		inserm.fr	GRCh37	22	50171410	50171410	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000216267.8:c.2516G>A	p.Gly839Asp	p.G839D	ENST00000216267	NM_014577.1	839	gGc/gAc	0	not done		benign	
BCL2L12		inserm.fr	GRCh37	19	50172300	50172300	+	synonymous_variant	Silent	SNP	G	T	T			BCM337T																					ENST00000246785.3:c.609G>T	p.Ser203=	p.S203=	ENST00000246785	NM_138639.1	203	tcG/tcT	0	validated		synonymous	
NCKAP5L		inserm.fr	GRCh37	12	50188932	50188932	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1191T																					ENST00000335999.6:c.2711C>A	p.Ala904Asp	p.A904D	ENST00000335999	NM_001037806.3	904	gCc/gAc	0	not done		probablydamaging	
PRMT1		inserm.fr	GRCh37	19	50189377	50189377	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000454376.2:c.787G>T	p.Glu263Ter	p.E263*	ENST00000454376	NM_001536.5	263	Gaa/Taa	0	not done		damaging	
CPT1C		inserm.fr	GRCh37	19	50209532	50209532	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1044T																					ENST00000392518.4:c.1205C>T	p.Ala402Val	p.A402V	ENST00000392518	NM_001199752.1	402	gCg/gTg	0	not done		benign	
KCNA1		inserm.fr	GRCh37	12	5021079	5021079	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1596T																					ENST00000382545.3:c.535A>T	p.Ile179Phe	p.I179F	ENST00000382545	NM_000217.2	179	Atc/Ttc	0	validated		possiblydamaging	
DGKK		inserm.fr	GRCh37	X	50213549	50213549	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC1182T																					ENST00000376025.2:n.189G>A		*63*	ENST00000376025				0	not done		synonymous	
BRD1		inserm.fr	GRCh37	22	50217826	50217826	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1763T																					ENST00000216267.8:c.140G>A	p.Arg47His	p.R47H	ENST00000216267	NM_014577.1	47	cGc/cAc	0	not done		probablydamaging	
KCNA1		inserm.fr	GRCh37	12	5021986	5021986	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1079T																					ENST00000382545.3:c.1442C>T	p.Ala481Val	p.A481V	ENST00000382545	NM_000217.2	481	gCt/gTt	0	not done		benign	
TSKS		inserm.fr	GRCh37	19	50250001	50250001	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000246801.3:c.718G>A	p.Glu240Lys	p.E240K	ENST00000246801	NM_021733.1	240	Gag/Aag	0	not done		probablydamaging	
ZBED4		inserm.fr	GRCh37	22	50279389	50279389	+	synonymous_variant	Silent	SNP	C	T	T			CHC1209T																					ENST00000216268.5:c.2079C>T	p.Ser693=	p.S693=	ENST00000216268	NM_014838.2	693	tcC/tcT	0	not done		synonymous	
AP2A1		inserm.fr	GRCh37	19	50296266	50296266	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1085T																					ENST00000359032.5:c.622G>T	p.Val208Phe	p.V208F	ENST00000359032	NM_014203.2	208	Gtc/Ttc	0	validated		possiblydamaging	
AP2A1		inserm.fr	GRCh37	19	50303388	50303388	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000359032.5:c.1436C>T	p.Ala479Val	p.A479V	ENST00000359032	NM_014203.2	479	gCc/gTc	0	not done		probablydamaging	
ADCY7		inserm.fr	GRCh37	16	50334679	50334679	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM567T																					ENST00000394697.2:c.1130C>T	p.Ser377Leu	p.S377L	ENST00000394697		377	tCg/tTg	0	validated		probablydamaging	
FAM170B		inserm.fr	GRCh37	10	50339931	50339931	+	synonymous_variant	Silent	SNP	C	T	T			BCM501T																					ENST00000311787.5:c.579G>A	p.Pro193=	p.P193=	ENST00000311787	NM_001164484.1	193	ccG/ccA	0	validated		synonymous	
ADCY7		inserm.fr	GRCh37	16	50341007	50341007	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000394697.2:c.1799C>T	p.Ala600Val	p.A600V	ENST00000394697		600	gCc/gTc	0	not done		possiblydamaging	
SHROOM4		inserm.fr	GRCh37	X	50351161	50351161	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000376020.2:c.2981G>A	p.Ser994Asn	p.S994N	ENST00000376020	NM_020717.3	994	aGc/aAc	0	not done		benign	
PIM3		inserm.fr	GRCh37	22	50355136	50355136	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM723T																					ENST00000360612.4:c.293G>T	p.Gly98Val	p.G98V	ENST00000360612	NM_001001852.3	98	gGc/gTc	0	validated		benign	
PIM3		inserm.fr	GRCh37	22	50355259	50355259	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000360612.4:c.416G>T	p.Arg139Leu	p.R139L	ENST00000360612	NM_001001852.3	139	cGc/cTc	0	not done		possiblydamaging	
PTOV1		inserm.fr	GRCh37	19	50363367	50363367	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM671T																					ENST00000391842.1:c.1166G>T	p.Gly389Val	p.G389V	ENST00000391842	NM_017432.3	389	gGc/gTc	0	validated		probablydamaging	
AQP6		inserm.fr	GRCh37	12	50367021	50367021	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000315520.5:c.65C>T	p.Ala22Val	p.A22V	ENST00000315520	NM_001652.3	22	gCc/gTc	0	not done		benign	
SHROOM4		inserm.fr	GRCh37	X	50376788	50376788	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000376020.2:c.2285G>A	p.Gly762Glu	p.G762E	ENST00000376020	NM_020717.3	762	gGg/gAg	0	not done		benign	
ZMYND10		inserm.fr	GRCh37	3	50381207	50381207	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000231749.3:c.276G>A	p.Val92=	p.V92=	ENST00000231749	NM_015896.2	92	gtG/gtA	0	not done		synonymous	
NPRL2		inserm.fr	GRCh37	3	50385261	50385261	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000232501.3:c.1004G>A	p.Arg335Gln	p.R335Q	ENST00000232501	NM_006545.4	335	cGg/cAg	0	not done		benign	
NUP62		inserm.fr	GRCh37	19	50412812	50412812	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC798T									Valid												ENST00000596217.1:c.253G>A	p.Gly85Arg	p.G85R	ENST00000596217		85	Gga/Aga	0	validated		possiblydamaging	
CACNA2D2		inserm.fr	GRCh37	3	50415738	50415738	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM483T									Valid												ENST00000479441.1:c.1366G>A	p.Gly456Arg	p.G456R	ENST00000479441		456	Gga/Aga	0	validated		probablydamaging	
USP6		inserm.fr	GRCh37	17	5042623	5042623	+	synonymous_variant	Silent	SNP	G	T	T			CHC1148T																					ENST00000574788.1:c.1152G>T	p.Gly384=	p.G384=	ENST00000574788		384	ggG/ggT	0	not done		synonymous	
IKZF1		inserm.fr	GRCh37	7	50450405	50450405	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC891T																					ENST00000331340.3:c.589G>T	p.Val197Phe	p.V197F	ENST00000331340	NM_006060.4	197	Gtt/Ttt	0	not done		probablydamaging	
USP6		inserm.fr	GRCh37	17	5045315	5045315	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1534T																					ENST00000574788.1:c.1591G>T	p.Ala531Ser	p.A531S	ENST00000574788		531	Gcc/Tcc	0	validated		possiblydamaging	
IKZF1		inserm.fr	GRCh37	7	50468026	50468026	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000331340.3:c.1261C>T	p.His421Tyr	p.H421Y	ENST00000331340	NM_006060.4	421	Cac/Tac	0	not done		probablydamaging	
ASIC1		inserm.fr	GRCh37	12	50471007	50471007	+	synonymous_variant	Silent	SNP	C	T	T			CHC155T																					ENST00000228468.4:c.570C>T	p.Arg190=	p.R190=	ENST00000228468	NM_020039.3	190	cgC/cgT	0	validated		synonymous	
CACNA2D2		inserm.fr	GRCh37	3	50471768	50471768	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000479441.1:c.381G>A	p.Leu127=	p.L127=	ENST00000479441		127	ctG/ctA	0	not done		synonymous	
ASIC1		inserm.fr	GRCh37	12	50472224	50472224	+	synonymous_variant	Silent	SNP	C	T	T			CHC433T																					ENST00000228468.4:c.858C>T	p.Pro286=	p.P286=	ENST00000228468	NM_020039.3	286	ccC/ccT	0	validated		synonymous	
TTLL8		inserm.fr	GRCh37	22	50472832	50472832	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000433387.1:c.1041C>A	p.Leu347=	p.L347=	ENST00000433387		347	ctC/ctA	0	not done		synonymous	
SIGLEC16		inserm.fr	GRCh37	19	50476367	50476367	+	non_coding_transcript_exon_variant	RNA	SNP	G	T	T			CHC1598T																					ENST00000602139.1:n.1466G>T		*489*	ENST00000602139				0	not done			
AGBL4		inserm.fr	GRCh37	1	50489460	50489460	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000371839.1:c.9G>A	p.Glu3=	p.E3=	ENST00000371839	NM_032785.3	3	gaG/gaA	0	not done		synonymous	
VRK3		inserm.fr	GRCh37	19	50498447	50498447	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000599538.1:c.764+1G>A		p.X255_splice	ENST00000599538				0	not done		damaging	
VRK3		inserm.fr	GRCh37	19	50498476	50498476	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000599538.1:c.736G>A	p.Gly246Ser	p.G246S	ENST00000599538		246	Ggt/Agt	0	not done		probablydamaging	
CACNA2D2		inserm.fr	GRCh37	3	50513581	50513581	+	synonymous_variant	Silent	SNP	G	T	T			CHC1598T																					ENST00000479441.1:c.256C>A	p.Arg86=	p.R86=	ENST00000479441		86	Cgg/Agg	0	not done		synonymous	
MLC1		inserm.fr	GRCh37	22	50515323	50515323	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1211T																					ENST00000311597.5:c.544G>A	p.Ala182Thr	p.A182T	ENST00000311597	NM_015166.3	182	Gcc/Acc	0	not done		benign	
MLC1		inserm.fr	GRCh37	22	50518786	50518786	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000311597.5:c.308G>A	p.Arg103Lys	p.R103K	ENST00000311597	NM_015166.3	103	aGg/aAg	0	not done		benign	
C10orf71		inserm.fr	GRCh37	10	50533446	50533446	+	synonymous_variant	Silent	SNP	A	T	T			CHC218T																					ENST00000374144.3:c.2856A>T	p.Pro952=	p.P952=	ENST00000374144		952	ccA/ccT	0	not done		synonymous	
C10orf71		inserm.fr	GRCh37	10	50533789	50533789	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM337T																					ENST00000374144.3:c.3199G>T	p.Ala1067Ser	p.A1067S	ENST00000374144		1067	Gcc/Tcc	0	validated			
C10orf71		inserm.fr	GRCh37	10	50534253	50534253	+	synonymous_variant	Silent	SNP	G	T	T			CHC1717T																					ENST00000374144.3:c.3663G>T	p.Pro1221=	p.P1221=	ENST00000374144		1221	ccG/ccT	0	not done		synonymous	
C10orf71		inserm.fr	GRCh37	10	50534289	50534289	+	synonymous_variant	Silent	SNP	C	T	T			CHC1743T																					ENST00000374144.3:c.3699C>T	p.Pro1233=	p.P1233=	ENST00000374144		1233	ccC/ccT	0	not done		synonymous	
ZNF473		inserm.fr	GRCh37	19	50550026	50550026	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC306T									Valid												ENST00000595661.1:c.2326C>T	p.His776Tyr	p.H776Y	ENST00000595661		776	Cac/Tac	0	validated		probablydamaging	
MOV10L1		inserm.fr	GRCh37	22	50555771	50555771	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1182T																					ENST00000262794.5:c.1445C>T	p.Ala482Val	p.A482V	ENST00000262794	NM_018995.2	482	gCa/gTa	0	not done		benign	
SHROOM4		inserm.fr	GRCh37	X	50557008	50557008	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1750T																					ENST00000376020.2:c.11G>A	p.Arg4Gln	p.R4Q	ENST00000376020	NM_020717.3	4	cGg/cAg	0	not done		benign	
LIMA1		inserm.fr	GRCh37	12	50571068	50571068	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1603T																					ENST00000394943.3:c.2062G>A	p.Asp688Asn	p.D688N	ENST00000394943		688	Gat/Aat	0	not done		probablydamaging	
HEMK1		inserm.fr	GRCh37	3	50614503	50614503	+	synonymous_variant	Silent	SNP	G	T	T			CHC798T																					ENST00000232854.4:c.435G>T	p.Leu145=	p.L145=	ENST00000232854	NM_016173.3	145	ctG/ctT	0	validated		synonymous	
PANX2		inserm.fr	GRCh37	22	50615563	50615563	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000395842.2:c.422G>T	p.Gly141Val	p.G141V	ENST00000395842	NM_052839.3	141	gGc/gTc	0	not done		possiblydamaging	
IZUMO2		inserm.fr	GRCh37	19	50657966	50657966	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM529T																					ENST00000293405.3:c.514G>A	p.Val172Met	p.V172M	ENST00000293405	NM_152358.2	172	Gtg/Atg	0	validated		benign	
BMP15		inserm.fr	GRCh37	X	50658826	50658826	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1754T																					ENST00000252677.3:c.398C>T	p.Ala133Val	p.A133V	ENST00000252677	NM_005448.2	133	gCc/gTc	0	not done		probablydamaging	
ELAVL4		inserm.fr	GRCh37	1	50659447	50659447	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000357083.4:c.416C>T	p.Ala139Val	p.A139V	ENST00000357083	NM_001144775.1	139	gCc/gTc	0	not done		probablydamaging	
TUBGCP6		inserm.fr	GRCh37	22	50664337	50664337	+	synonymous_variant	Silent	SNP	C	T	T			CHC1751T																					ENST00000248846.5:c.1869G>A	p.Arg623=	p.R623=	ENST00000248846		623	cgG/cgA	0	not done		synonymous	
NKD1		inserm.fr	GRCh37	16	50667503	50667503	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC793T																					ENST00000268459.3:c.1224G>T	p.Glu408Asp	p.E408D	ENST00000268459	NM_033119.4	408	gaG/gaT	0	validated		benign	
MAPKAPK3		inserm.fr	GRCh37	3	50677832	50677832	+	synonymous_variant	Silent	SNP	A	T	T			CHC1756T																					ENST00000446044.1:c.255A>T	p.Val85=	p.V85=	ENST00000446044	NM_001243926.1	85	gtA/gtT	0	not done		synonymous	
ISL1		inserm.fr	GRCh37	5	50687134	50687134	+	synonymous_variant	Silent	SNP	C	T	T			CHC1053T																					ENST00000230658.7:c.792C>T	p.Pro264=	p.P264=	ENST00000230658	NM_002202.2	264	ccC/ccT	0	validated		synonymous	
SNX20		inserm.fr	GRCh37	16	50707652	50707652	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000330943.4:c.616G>A	p.Glu206Lys	p.E206K	ENST00000330943	NM_182854.2	206	Gag/Aag	0	not done		possiblydamaging	
PLXNB2		inserm.fr	GRCh37	22	50718139	50718139	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000449103.1:c.4309G>A	p.Val1437Met	p.V1437M	ENST00000449103		1437	Gtg/Atg	0	not done		probablydamaging	
PLXNB2		inserm.fr	GRCh37	22	50719876	50719876	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1191T																					ENST00000449103.1:c.3575G>A	p.Arg1192Gln	p.R1192Q	ENST00000449103		1192	cGg/cAg	0	not done		possiblydamaging	
PLXNB2		inserm.fr	GRCh37	22	50722107	50722107	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000449103.1:c.2494G>A	p.Ala832Thr	p.A832T	ENST00000449103		832	Gca/Aca	0	not done		possiblydamaging	
NOD2		inserm.fr	GRCh37	16	50733700	50733700	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000300589.2:c.375C>T	p.Pro125=	p.P125=	ENST00000300589	NM_022162.1	125	ccC/ccT	0	not done		synonymous	
DCC		inserm.fr	GRCh37	18	50734061	50734061	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC896T																					ENST00000442544.2:c.1735G>T	p.Asp579Tyr	p.D579Y	ENST00000442544	NM_005215.3	579	Gat/Tat	0	not done		possiblydamaging	
MYH14		inserm.fr	GRCh37	19	50735287	50735287	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC879T																					ENST00000601313.1:c.1074G>T	p.Glu358Asp	p.E358D	ENST00000601313	NM_001145809.1	358	gaG/gaT	0	not done		benign	
TFAP2D		inserm.fr	GRCh37	6	50740507	50740507	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1192T																					ENST00000008391.3:c.1289C>T	p.Ser430Leu	p.S430L	ENST00000008391	NM_172238.3	430	tCg/tTg	0	not done		probablydamaging	
NOD2		inserm.fr	GRCh37	16	50745766	50745766	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000300589.2:c.1944C>T	p.Cys648=	p.C648=	ENST00000300589	NM_022162.1	648	tgC/tgT	0	not done		synonymous	
NOD2		inserm.fr	GRCh37	16	50750861	50750861	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1097T																					ENST00000300589.2:c.2606G>T	p.Cys869Phe	p.C869F	ENST00000300589	NM_022162.1	869	tGc/tTc	0	validated		benign	
DENND6B		inserm.fr	GRCh37	22	50752108	50752108	+	synonymous_variant	Silent	SNP	G	T	T			CHC301T																					ENST00000413817.3:c.1249C>A	p.Arg417=	p.R417=	ENST00000413817	NM_001001794.3	417	Cgg/Agg	0	validated		synonymous	
MYH14		inserm.fr	GRCh37	19	50780125	50780125	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000601313.1:c.3792G>T	p.Gly1264=	p.G1264=	ENST00000601313	NM_001145809.1	1264	ggG/ggT	0	not done		synonymous	
TFAP2B		inserm.fr	GRCh37	6	50791130	50791130	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC097T									Valid												ENST00000393655.3:c.92A>T	p.Asp31Val	p.D31V	ENST00000393655	NM_003221.3	31	gAt/gTt	0	validated		probablydamaging	
TFAP2B		inserm.fr	GRCh37	6	50810960	50810960	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1044T																					ENST00000393655.3:c.1238C>T	p.Ala413Val	p.A413V	ENST00000393655	NM_003221.3	413	gCg/gTg	0	not done		probablydamaging	
CYLD		inserm.fr	GRCh37	16	50813658	50813658	+	synonymous_variant	Silent	SNP	G	T	T			BCM711T																					ENST00000398568.2:c.1212G>T	p.Val404=	p.V404=	ENST00000398568	NM_001042412.1	404	gtG/gtT	0	validated		synonymous	
SLC18A3		inserm.fr	GRCh37	10	50819269	50819269	+	synonymous_variant	Silent	SNP	C	T	T			CHC1774T																					ENST00000374115.3:c.483C>T	p.Val161=	p.V161=	ENST00000374115	NM_003055.2	161	gtC/gtT	0	validated		synonymous	
CHAT		inserm.fr	GRCh37	10	50828611	50828611	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2029T																					ENST00000337653.2:c.650C>T	p.Ala217Val	p.A217V	ENST00000337653	NM_020549.4	217	gCc/gTc	0	not done		possiblydamaging	
NAGPA		inserm.fr	GRCh37	16	5083357	5083357	+	synonymous_variant	Silent	SNP	C	T	T			CHC1751T																					ENST00000312251.3:c.459G>A	p.Val153=	p.V153=	ENST00000312251	NM_016256.3	153	gtG/gtA	0	not done		synonymous	
ZNF594		inserm.fr	GRCh37	17	5085441	5085441	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000399604.4:c.2111G>A	p.Gly704Asp	p.G704D	ENST00000399604		704	gGt/gAt	0	not done		probablydamaging	
NAPSA		inserm.fr	GRCh37	19	50868818	50868818	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC304T									Valid												ENST00000253719.2:c.61C>A	p.Pro21Thr	p.P21T	ENST00000253719	NM_004851.1	21	Cct/Act	0	validated		probablydamaging	
CHAT		inserm.fr	GRCh37	10	50872988	50872988	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1725T																					ENST00000337653.2:c.2143C>T	p.Leu715Phe	p.L715F	ENST00000337653	NM_020549.4	715	Ctc/Ttc	0	not done		possiblydamaging	
CHAT		inserm.fr	GRCh37	10	50873061	50873061	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000337653.2:c.2216C>T	p.Ala739Val	p.A739V	ENST00000337653	NM_020549.4	739	gCc/gTc	0	not done		benign	
NR1H2		inserm.fr	GRCh37	19	50881451	50881451	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM711T																					ENST00000253727.5:c.227G>T	p.Gly76Val	p.G76V	ENST00000253727	NM_007121.5	76	gGc/gTc	0	validated		probablydamaging	
NR1H2		inserm.fr	GRCh37	19	50885290	50885290	+	synonymous_variant	Silent	SNP	C	T	T			CHC961T																					ENST00000253727.5:c.1095C>T	p.Asp365=	p.D365=	ENST00000253727	NM_007121.5	365	gaC/gaT	0	validated		synonymous	
SBF1		inserm.fr	GRCh37	22	50893722	50893722	+	synonymous_variant	Silent	SNP	A	T	T			BCM617T																					ENST00000380817.3:c.4485T>A	p.Ala1495=	p.A1495=	ENST00000380817	NM_002972.2	1495	gcT/gcA	0	validated		synonymous	
SBF1		inserm.fr	GRCh37	22	50899024	50899024	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000380817.3:c.3085G>A	p.Gly1029Ser	p.G1029S	ENST00000380817	NM_002972.2	1029	Ggc/Agc	0	not done		probablydamaging	
SBF1		inserm.fr	GRCh37	22	50899716	50899716	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000380817.3:c.2840-1G>A		p.X947_splice	ENST00000380817	NM_002972.2			0	not done		damaging	
DCC		inserm.fr	GRCh37	18	50912438	50912438	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000442544.2:c.2385C>T	p.Ser795=	p.S795=	ENST00000442544	NM_005215.3	795	tcC/tcT	0	not done		synonymous	
POLD1		inserm.fr	GRCh37	19	50919776	50919776	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM695T																					ENST00000440232.2:c.2944G>T	p.Val982Leu	p.V982L	ENST00000440232	NM_002691.3	982	Gtg/Ttg	0	validated		benign	
MIOX		inserm.fr	GRCh37	22	50928050	50928050	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1185T																					ENST00000216075.6:c.726G>T	p.Met242Ile	p.M242I	ENST00000216075	NM_017584.5	242	atG/atT	0	not done		probablydamaging	
DCC		inserm.fr	GRCh37	18	50929177	50929177	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1568T																					ENST00000442544.2:c.2849A>T	p.Asp950Val	p.D950V	ENST00000442544	NM_005215.3	950	gAc/gTc	0	not done		probablydamaging	
MYBPC2		inserm.fr	GRCh37	19	50944202	50944202	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC912T									Valid												ENST00000357701.5:c.638A>T	p.Glu213Val	p.E213V	ENST00000357701	NM_004533.3	213	gAg/gTg	0	validated		possiblydamaging	
OGDHL		inserm.fr	GRCh37	10	50947836	50947836	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000374103.4:c.2190G>A	p.Trp730Ter	p.W730*	ENST00000374103	NM_018245.2	730	tgG/tgA	0	not done		damaging	
OGDHL		inserm.fr	GRCh37	10	50952068	50952068	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000374103.4:c.1833G>A	p.Val611=	p.V611=	ENST00000374103	NM_018245.2	611	gtG/gtA	0	not done		synonymous	
MYBPC2		inserm.fr	GRCh37	19	50957371	50957371	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000357701.5:c.1844G>T	p.Arg615Leu	p.R615L	ENST00000357701	NM_004533.3	615	cGc/cTc	0	not done		benign	
OGDHL		inserm.fr	GRCh37	10	50959918	50959918	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000374103.4:c.704G>A	p.Ser235Asn	p.S235N	ENST00000374103	NM_018245.2	235	aGc/aAc	0	not done		benign	
RBAK		inserm.fr	GRCh37	7	5097349	5097349	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000396904.2:c.177G>T	p.Lys59Asn	p.K59N	ENST00000396904	NM_001204513.1	59	aaG/aaT	0	not done		possiblydamaging	
DCC		inserm.fr	GRCh37	18	50976869	50976869	+	splice_acceptor_variant	Splice_Site	SNP	G	T	T			CHC1191T																					ENST00000442544.2:c.3230-1G>T		p.X1077_splice	ENST00000442544	NM_005215.3			0	not done		damaging	
GARIN5A		inserm.fr	GRCh37	19	50979627	50979627	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1207T																					ENST00000595790.1:c.19C>A	p.Pro7Thr	p.P7T	ENST00000595790	NM_138411.1	7	Cct/Act	0	not done		benign	
DCC		inserm.fr	GRCh37	18	50985658	50985658	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000442544.2:c.3449C>T	p.Pro1150Leu	p.P1150L	ENST00000442544	NM_005215.3	1150	cCc/cTc	0	not done		probablydamaging	
MAPK8IP2		inserm.fr	GRCh37	22	51043843	51043843	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1731T																					ENST00000329492.3:c.1810C>T	p.Arg604Ter	p.R604*	ENST00000329492	NM_012324.3	604	Cga/Tga	0	not done		synonymous	
ARSA		inserm.fr	GRCh37	22	51064006	51064006	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000216124.5:c.1210+1G>A		p.X404_splice	ENST00000216124	NM_000487.5			0	not done		damaging	
DIP2B		inserm.fr	GRCh37	12	51068364	51068364	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC793T									Valid												ENST00000301180.5:c.748G>T	p.Gly250Cys	p.G250C	ENST00000301180	NM_173602.2	250	Ggc/Tgc	0	validated		probablydamaging	
SYT3		inserm.fr	GRCh37	19	51128445	51128445	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2098T																					ENST00000338916.4:c.1681G>A	p.Val561Met	p.V561M	ENST00000338916	NM_032298.2	561	Gtg/Atg	0	not done		probablydamaging	
CXorf67		inserm.fr	GRCh37	X	51150755	51150755	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000342995.2:c.887C>T	p.Ala296Val	p.A296V	ENST00000342995		296	gCg/gTg	0	not done		benign	
C16orf89		inserm.fr	GRCh37	16	5115845	5115845	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1720T																					ENST00000315997.5:c.65C>A	p.Ser22Ter	p.S22*	ENST00000315997	NM_152459.4	22	tCa/tAa	0	not done		damaging	
SHANK3		inserm.fr	GRCh37	22	51159449	51159449	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB325T																					ENST00000262795.3:c.3236C>T	p.Thr1079Ile	p.T1079I	ENST00000262795	NM_033517.1	1079	aCc/aTc	0	validated		benign	
SHANK1		inserm.fr	GRCh37	19	51169813	51169813	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM337T																					ENST00000293441.1:c.5404G>A	p.Ala1802Thr	p.A1802T	ENST00000293441	NM_016148.2	1802	Gct/Act	0	validated		benign	
SHANK1		inserm.fr	GRCh37	19	51189537	51189537	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC302T									Valid												ENST00000293441.1:c.2534C>A	p.Ala845Glu	p.A845E	ENST00000293441	NM_016148.2	845	gCg/gAg	0	validated		probablydamaging	
SHANK1		inserm.fr	GRCh37	19	51191254	51191254	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000293441.1:c.2234G>A	p.Gly745Glu	p.G745E	ENST00000293441	NM_016148.2	745	gGg/gAg	0	not done		probablydamaging	
SHANK1		inserm.fr	GRCh37	19	51201126	51201126	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T									Valid												ENST00000293441.1:c.1835C>A	p.Ala612Glu	p.A612E	ENST00000293441	NM_016148.2	612	gCg/gAg	0	validated		probablydamaging	
SHANK1		inserm.fr	GRCh37	19	51214644	51214644	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000293441.1:c.1061G>A	p.Cys354Tyr	p.C354Y	ENST00000293441	NM_016148.2	354	tGc/tAc	0	not done		probablydamaging	
SHANK1		inserm.fr	GRCh37	19	51217112	51217112	+	synonymous_variant	Silent	SNP	C	T	T			CHC1148T																					ENST00000293441.1:c.735G>A	p.Arg245=	p.R245=	ENST00000293441	NM_016148.2	245	cgG/cgA	0	not done		synonymous	
NIN		inserm.fr	GRCh37	14	51224101	51224101	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1028T																					ENST00000382041.3:c.3647G>A	p.Arg1216Gln	p.R1216Q	ENST00000382041	NM_016350.4	1216	cGa/cAa	0	not done		probablydamaging	
NIN		inserm.fr	GRCh37	14	51224618	51224618	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000382041.3:c.3130G>A	p.Val1044Met	p.V1044M	ENST00000382041	NM_016350.4	1044	Gtg/Atg	0	not done		possiblydamaging	
CLEC11A		inserm.fr	GRCh37	19	51228499	51228499	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000250340.4:c.747C>T	p.Gly249=	p.G249=	ENST00000250340	NM_002975.2	249	ggC/ggT	0	not done		synonymous	
ALG1		inserm.fr	GRCh37	16	5123203	5123203	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1592T																					ENST00000262374.5:c.336G>T	p.Met112Ile	p.M112I	ENST00000262374	NM_019109.4	112	atG/atT	0	not done		benign	
NRXN1		inserm.fr	GRCh37	2	51254752	51254752	+	synonymous_variant	Silent	SNP	G	T	T			CHC1594T																					ENST00000404971.1:c.660C>A	p.Gly220=	p.G220=	ENST00000404971	NM_001135659.1	220	ggC/ggA	0	not done		synonymous	
NRXN1		inserm.fr	GRCh37	2	51255385	51255385	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000404971.1:c.27G>A	p.Gly9=	p.G9=	ENST00000404971	NM_001135659.1	9	ggG/ggA	0	not done		synonymous	
GPR32		inserm.fr	GRCh37	19	51274326	51274326	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1079T																					ENST00000270590.4:c.469C>T	p.Arg157Trp	p.R157W	ENST00000270590	NM_001506.2	157	Cgg/Tgg	0	validated		probablydamaging	
ACPT		inserm.fr	GRCh37	19	51295005	51295005	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000270593.1:c.396C>T	p.Pro132=	p.P132=	ENST00000270593	NM_033068.2	132	ccC/ccT	0	not done		synonymous	
DOCK3		inserm.fr	GRCh37	3	51312604	51312604	+	synonymous_variant	Silent	SNP	C	T	T			BCM543T																					ENST00000266037.9:c.2643C>T	p.Gly881=	p.G881=	ENST00000266037	NM_004947.4	881	ggC/ggT	0	validated		synonymous	
KDM4B		inserm.fr	GRCh37	19	5133933	5133933	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000159111.4:c.1946C>T	p.Pro649Leu	p.P649L	ENST00000159111	NM_015015.2	649	cCg/cTg	0	validated		probablydamaging	
ABHD12B		inserm.fr	GRCh37	14	51345511	51345511	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000337334.2:c.281C>T	p.Pro94Leu	p.P94L	ENST00000337334	NM_001206673.1	94	cCt/cTt	0	not done		benign	
KLK3		inserm.fr	GRCh37	19	51359543	51359543	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC2052T																					ENST00000326003.2:c.94G>T	p.Glu32Ter	p.E32*	ENST00000326003	NM_001030047.1	32	Gag/Tag	0	not done		damaging	
KLK3		inserm.fr	GRCh37	19	51363375	51363375	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2048T																					ENST00000326003.2:c.778A>T	p.Asn260Tyr	p.N260Y	ENST00000326003	NM_001030047.1	260	Aac/Tac	0	not done		probablydamaging	
KLK2		inserm.fr	GRCh37	19	51379737	51379737	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC799T																					ENST00000325321.3:c.216G>T	p.Gln72His	p.Q72H	ENST00000325321		72	caG/caT	0	not done		benign	
KLK2		inserm.fr	GRCh37	19	51380294	51380294	+	intron_variant	Intron	SNP	G	T	T			CHC1704T																					ENST00000325321.3:c.630+30G>T		*210*	ENST00000325321				0	not done			
DOCK3		inserm.fr	GRCh37	3	51395491	51395491	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1747T																					ENST00000266037.9:c.4867C>T	p.Arg1623Trp	p.R1623W	ENST00000266037	NM_004947.4	1623	Cgg/Tgg	0	not done		probablydamaging	
KLK4		inserm.fr	GRCh37	19	51411946	51411946	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM501T																					ENST00000324041.1:c.364T>A	p.Leu122Met	p.L122M	ENST00000324041	NM_004917.3	122	Ttg/Atg	0	validated		probablydamaging	
DLEU7		inserm.fr	GRCh37	13	51417561	51417561	+	synonymous_variant	Silent	SNP	G	T	T			CHC1725T																					ENST00000400393.3:c.222C>A	p.Thr74=	p.T74=	ENST00000400393	NM_198989.2	74	acC/acA	0	validated		synonymous	
TRIM9		inserm.fr	GRCh37	14	51446115	51446115	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000298355.3:c.2060G>A	p.Arg687Lys	p.R687K	ENST00000298355	NM_015163.5	687	aGg/aAg	0	not done		probablydamaging	
KLK5		inserm.fr	GRCh37	19	51452004	51452004	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1601T																					ENST00000336334.3:c.618C>A	p.Cys206Ter	p.C206*	ENST00000336334	NM_012427.4	206	tgC/tgA	0	not done		damaging	
VPRBP		inserm.fr	GRCh37	3	51457254	51457254	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000423656.1:c.1883G>A	p.Arg628Lys	p.R628K	ENST00000423656		628	aGg/aAg	0	not done		benign	
GSPT2		inserm.fr	GRCh37	X	51486944	51486944	+	synonymous_variant	Silent	SNP	G	T	T			CHC1753T																					ENST00000340438.4:c.222G>T	p.Arg74=	p.R74=	ENST00000340438	NM_018094.4	74	cgG/cgT	0	not done		synonymous	
TRIM9		inserm.fr	GRCh37	14	51492039	51492039	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1708T																					ENST00000298355.3:c.862G>A	p.Ala288Thr	p.A288T	ENST00000298355	NM_015163.5	288	Gcc/Acc	0	not done		probablydamaging	
KLK8		inserm.fr	GRCh37	19	51503468	51503468	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000391806.2:c.412G>A	p.Gly138Ser	p.G138S	ENST00000391806		138	Ggc/Agc	0	not done		benign	
KLK8		inserm.fr	GRCh37	19	51503723	51503723	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000391806.2:c.322G>A	p.Val108Ile	p.V108I	ENST00000391806		108	Gta/Ata	0	not done		benign	
KLK9		inserm.fr	GRCh37	19	51509833	51509833	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	T	T			CHC896T																					ENST00000250366.6:c.347G>A	p.Arg116His	p.R116H	ENST00000250366	NM_012315.1	116	cGc/cAc	0	not done		probablydamaging	
OR4C46		inserm.fr	GRCh37	11	51515725	51515725	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC432T																					ENST00000328188.1:c.444G>T	p.Met148Ile	p.M148I	ENST00000328188	NM_001004703.1	148	atG/atT	0	not done		benign	
KCNA5		inserm.fr	GRCh37	12	5154688	5154688	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1594T																					ENST00000252321.3:c.1375A>T	p.Asn459Tyr	p.N459Y	ENST00000252321	NM_002234.3	459	Aac/Tac	0	not done		benign	
KCNA5		inserm.fr	GRCh37	12	5154829	5154829	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000252321.3:c.1516C>T	p.Leu506Phe	p.L506F	ENST00000252321	NM_002234.3	506	Ctc/Ttc	0	not done		probablydamaging	
KLK13		inserm.fr	GRCh37	19	51559902	51559902	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1596T																					ENST00000595793.1:c.776G>A	p.Arg259His	p.R259H	ENST00000595793	NM_015596.1	259	cGt/cAt	0	validated		benign	
KLK13		inserm.fr	GRCh37	19	51563322	51563322	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000595793.1:c.268G>A	p.Ala90Thr	p.A90T	ENST00000595793	NM_015596.1	90	Gcc/Acc	0	not done		benign	
SNTG1		inserm.fr	GRCh37	8	51569540	51569540	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000522124.1:c.921C>T	p.Phe307=	p.F307=	ENST00000522124	NM_018967.2	307	ttC/ttT	0	not done		synonymous	
SIGLEC9		inserm.fr	GRCh37	19	51630451	51630451	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000440804.3:c.913C>T	p.Leu305=	p.L305=	ENST00000440804	NM_001198558.1	305	Ctg/Ttg	0	not done		synonymous	
SIGLEC9		inserm.fr	GRCh37	19	51631261	51631261	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000440804.3:c.1071C>T	p.Ala357=	p.A357=	ENST00000440804	NM_001198558.1	357	gcC/gcT	0	not done		synonymous	
GLDN		inserm.fr	GRCh37	15	51634131	51634131	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC2048T																					ENST00000335449.6:c.250C>T	p.Gln84Ter	p.Q84*	ENST00000335449	NM_181789.2	84	Caa/Taa	0	not done		damaging	
MAGED1		inserm.fr	GRCh37	X	51637856	51637856	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC433T																					ENST00000375695.2:c.179G>T	p.Cys60Phe	p.C60F	ENST00000375695	NM_001005333.1	60	tGc/tTc	0	validated		benign	
MAGED1		inserm.fr	GRCh37	X	51638623	51638623	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM759T																					ENST00000375695.2:c.688A>T	p.Asn230Tyr	p.N230Y	ENST00000375695	NM_001005333.1	230	Aac/Tac	0	validated		probablydamaging	
PKHD1		inserm.fr	GRCh37	6	51640694	51640694	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000371117.3:c.8466G>A	p.Lys2822=	p.K2822=	ENST00000371117	NM_138694.3	2822	aaG/aaA	0	not done		synonymous	
SIGLEC7		inserm.fr	GRCh37	19	51647768	51647768	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000317643.6:c.539C>T	p.Pro180Leu	p.P180L	ENST00000317643	NM_014385.3	180	cCt/cTt	0	not done		probablydamaging	
SIGLEC7		inserm.fr	GRCh37	19	51656367	51656367	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000317643.6:c.1269C>T	p.Gly423=	p.G423=	ENST00000317643	NM_014385.3	423	ggC/ggT	0	not done		synonymous	
BIN2		inserm.fr	GRCh37	12	51693449	51693449	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1708T																					ENST00000267012.4:c.458G>A	p.Arg153Gln	p.R153Q	ENST00000267012	NM_016293.2	153	cGa/cAa	0	not done		probablydamaging	
RNF11		inserm.fr	GRCh37	1	51702473	51702473	+	synonymous_variant	Silent	SNP	G	T	T			CHC1714T																					ENST00000242719.3:c.45G>T	p.Leu15=	p.L15=	ENST00000242719	NM_014372.4	15	ctG/ctT	0	not done		synonymous	
OR52A1		inserm.fr	GRCh37	11	5172831	5172831	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000380367.1:c.769C>A	p.Leu257Ile	p.L257I	ENST00000380367		257	Ctt/Att	0	not done		probablydamaging	
CD33		inserm.fr	GRCh37	19	51742839	51742839	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1704T																					ENST00000262262.4:c.991A>T	p.Thr331Ser	p.T331S	ENST00000262262	NM_001772.3	331	Act/Tct	0	not done		benign	
GRM2		inserm.fr	GRCh37	3	51751789	51751789	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000395052.3:c.2501G>T	p.Arg834Leu	p.R834L	ENST00000395052	NM_000839.3	834	cGc/cTc	0	not done		probablydamaging	
GALNT6		inserm.fr	GRCh37	12	51773225	51773225	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000543196.2:c.341G>A	p.Gly114Glu	p.G114E	ENST00000543196		114	gGg/gAg	0	not done		probablydamaging	
PKHD1		inserm.fr	GRCh37	6	51777257	51777257	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371117.3:c.6239G>A	p.Ser2080Asn	p.S2080N	ENST00000371117	NM_138694.3	2080	aGt/aAt	0	not done		benign	
TTC39A		inserm.fr	GRCh37	1	51777806	51777806	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000413473.2:c.352G>A	p.Gly118Ser	p.G118S	ENST00000413473	NM_001144832.1	118	Ggc/Agc	0	not done		benign	
DMXL2		inserm.fr	GRCh37	15	51780745	51780745	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000543779.2:c.5051G>A	p.Arg1684Lys	p.R1684K	ENST00000543779		1684	aGg/aAg	0	not done		probablydamaging	
DMXL2		inserm.fr	GRCh37	15	51791834	51791834	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM695T																					ENST00000543779.2:c.3587G>A	p.Arg1196Lys	p.R1196K	ENST00000543779		1196	aGg/aAg	0	validated		probablydamaging	
EPS15		inserm.fr	GRCh37	1	51822432	51822432	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000371733.3:c.2631G>A	p.Gln877=	p.Q877=	ENST00000371733	NM_001981.2	877	caG/caA	0	not done		synonymous	
ADAMTS16		inserm.fr	GRCh37	5	5182357	5182357	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000274181.7:c.702C>T	p.His234=	p.H234=	ENST00000274181	NM_139056.2	234	caC/caT	0	not done		synonymous	
PKHD1		inserm.fr	GRCh37	6	51824748	51824748	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB157T																					ENST00000371117.3:c.5828G>A	p.Gly1943Asp	p.G1943D	ENST00000371117	NM_138694.3	1943	gGc/gAc	0	validated		probablydamaging	
FAM124A		inserm.fr	GRCh37	13	51825861	51825861	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000280057.6:c.466C>T	p.His156Tyr	p.H156Y	ENST00000280057	NM_145019.3	156	Cac/Tac	0	not done		benign	
IGLON5		inserm.fr	GRCh37	19	51828606	51828606	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000270642.8:c.398C>T	p.Ala133Val	p.A133V	ENST00000270642	NM_001101372.1	133	gCc/gTc	0	not done		benign	
DMXL2		inserm.fr	GRCh37	15	51829060	51829060	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000543779.2:c.1618-1G>A		p.X540_splice	ENST00000543779				0	not done		damaging	
SLC4A8		inserm.fr	GRCh37	12	51844733	51844733	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000453097.2:c.204C>T	p.Gly68=	p.G68=	ENST00000453097	NM_001039960.2	68	ggC/ggT	0	not done		synonymous	
SLC4A8		inserm.fr	GRCh37	12	51865309	51865309	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000453097.2:c.1897C>T	p.Leu633Phe	p.L633F	ENST00000453097	NM_001039960.2	633	Ctc/Ttc	0	not done		benign	
PKHD1		inserm.fr	GRCh37	6	51889622	51889622	+	synonymous_variant	Silent	SNP	A	T	T			CHC801T																					ENST00000371117.3:c.4986T>A	p.Ser1662=	p.S1662=	ENST00000371117	NM_138694.3	1662	tcT/tcA	0	not done		synonymous	
LIM2		inserm.fr	GRCh37	19	51890622	51890622	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB325T									Valid												ENST00000221973.3:c.76G>A	p.Asp26Asn	p.D26N	ENST00000221973	NM_030657.3	26	Gac/Aac	0	validated		probablydamaging	
IQCF2		inserm.fr	GRCh37	3	51897069	51897069	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1736T																					ENST00000333127.3:c.178C>T	p.Arg60Cys	p.R60C	ENST00000333127	NM_203424.1	60	Cgc/Tgc	0	not done		probablydamaging	
PKHD1		inserm.fr	GRCh37	6	51907900	51907900	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1148T																					ENST00000371117.3:c.2854G>A	p.Gly952Arg	p.G952R	ENST00000371117	NM_138694.3	952	Gga/Aga	0	not done		probablydamaging	
SIGLEC10		inserm.fr	GRCh37	19	51917683	51917683	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2351T																					ENST00000356298.5:c.1702C>A	p.Leu568Met	p.L568M	ENST00000356298	NM_033130.4	568	Ctg/Atg	0	not done		benign	
ADAMTS16		inserm.fr	GRCh37	5	5191807	5191807	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000274181.7:c.1217C>T	p.Pro406Leu	p.P406L	ENST00000274181	NM_139056.2	406	cCc/cTc	0	not done		probablydamaging	
SERPINE3		inserm.fr	GRCh37	13	51918609	51918609	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1736T																					ENST00000521255.1:c.478A>T	p.Arg160Ter	p.R160*	ENST00000521255	NM_001101320.1	160	Aga/Tga	0	not done		damaging	
SIGLEC10		inserm.fr	GRCh37	19	51919223	51919223	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC2029T																					ENST00000356298.5:c.953C>A	p.Ser318Ter	p.S318*	ENST00000356298	NM_033130.4	318	tCa/tAa	0	validated		damaging	
SERPINE3		inserm.fr	GRCh37	13	51922456	51922456	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000521255.1:c.808C>T	p.Leu270=	p.L270=	ENST00000521255	NM_001101320.1	270	Ctg/Ttg	0	not done		synonymous	
IQCF1		inserm.fr	GRCh37	3	51929302	51929302	+	synonymous_variant	Silent	SNP	C	T	T			CHC1747T																					ENST00000310914.5:c.222G>A	p.Lys74=	p.K74=	ENST00000310914	NM_152397.2	74	aaG/aaA	0	not done		synonymous	
PKHD1		inserm.fr	GRCh37	6	51944758	51944758	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1747T																					ENST00000371117.3:c.330C>A	p.Tyr110Ter	p.Y110*	ENST00000371117	NM_138694.3	110	taC/taA	0	not done		damaging	
RRP9		inserm.fr	GRCh37	3	51967736	51967736	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000232888.6:c.1322G>A	p.Gly441Glu	p.G441E	ENST00000232888	NM_004704.4	441	gGg/gAg	0	not done		probablydamaging	
CEACAM18		inserm.fr	GRCh37	19	51986449	51986449	+	synonymous_variant	Silent	SNP	G	T	T			CHC1629T																					ENST00000451626.1:c.1035G>T	p.Ser345=	p.S345=	ENST00000451626		345	tcG/tcT	0	not done		synonymous	
CEACAM18		inserm.fr	GRCh37	19	51986560	51986560	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000451626.1:c.1146C>T	p.Ser382=	p.S382=	ENST00000451626		382	agC/agT	0	not done		synonymous	
PCBP4		inserm.fr	GRCh37	3	51992814	51992814	+	synonymous_variant	Silent	SNP	G	T	T			CHC429T																					ENST00000461554.1:c.915C>A	p.Ile305=	p.I305=	ENST00000461554	NM_001174100.1	305	atC/atA	0	validated		synonymous	
SCG3		inserm.fr	GRCh37	15	51993395	51993395	+	synonymous_variant	Silent	SNP	A	T	T			BCM321T																					ENST00000220478.3:c.1161A>T	p.Thr387=	p.T387=	ENST00000220478	NM_013243.3	387	acA/acT	0	validated		synonymous	
ACY1		inserm.fr	GRCh37	3	52018132	52018132	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC917T																					ENST00000404366.2:c.52C>T	p.Gln18Ter	p.Q18*	ENST00000404366	NM_000666.2	18	Cag/Tag	0	validated		damaging	
SIGLEC6		inserm.fr	GRCh37	19	52023337	52023337	+	stop_retained_variant	Silent	SNP	C	T	T			CHC1720T																					ENST00000425629.3:c.1361G>A	p.Ter454=	p.*454=	ENST00000425629	NM_001245.5	454	tGa/tAa	0	not done		synonymous	
AKR1CL1		inserm.fr	GRCh37	10	5204841	5204841	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000488756.1:c.236G>A	p.Arg79Lys	p.R79K	ENST00000488756		79	aGa/aAa	0	not done			
IL17A		inserm.fr	GRCh37	6	52052586	52052586	+	synonymous_variant	Silent	SNP	C	T	T			BCB167T																					ENST00000340057.1:c.213C>T	p.Thr71=	p.T71=	ENST00000340057	NM_002190.2	71	acC/acT	0	validated		synonymous	
ZNF175		inserm.fr	GRCh37	19	52076605	52076605	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC917T																					ENST00000262259.2:c.23C>T	p.Ser8Phe	p.S8F	ENST00000262259	NM_007147.2	8	tCc/tTc	0	validated		benign	
SIGLEC5		inserm.fr	GRCh37	19	52130877	52130877	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000429354.3:c.1120G>A	p.Gly374Arg	p.G374R	ENST00000429354		374	Ggg/Agg	0	not done		probablydamaging	
SIGLEC5		inserm.fr	GRCh37	19	52132313	52132313	+	synonymous_variant	Silent	SNP	G	T	T			CHC2052T																					ENST00000429354.3:c.717C>A	p.Ile239=	p.I239=	ENST00000429354		239	atC/atA	0	not done		synonymous	
MCM3		inserm.fr	GRCh37	6	52143635	52143635	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000596288.1:c.919G>A	p.Ala307Thr	p.A307T	ENST00000596288	NM_002388.4	307	Gcc/Acc	0	not done		probablydamaging	
SIGLEC14		inserm.fr	GRCh37	19	52146885	52146885	+	synonymous_variant	Silent	SNP	C	T	T			CHC327T																					ENST00000360844.6:c.1053G>A	p.Gln351=	p.Q351=	ENST00000360844	NM_001098612.1	351	caG/caA	0	validated		synonymous	
PTPRS		inserm.fr	GRCh37	19	5214705	5214705	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000357368.4:c.4361G>A	p.Gly1454Asp	p.G1454D	ENST00000357368	NM_002850.3	1454	gGc/gAc	0	not done		probablydamaging	
ITGA1		inserm.fr	GRCh37	5	52160814	52160814	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000282588.6:c.394C>T	p.Pro132Ser	p.P132S	ENST00000282588	NM_181501.1	132	Ccc/Tcc	0	not done		probablydamaging	
LYRM4		inserm.fr	GRCh37	6	5216942	5216942	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC879T																					ENST00000500576.2:c.116C>A	p.Ala39Asp	p.A39D	ENST00000500576	NM_001164840.1	39	gCc/gAc	0	not done		probablydamaging	
ITGA1		inserm.fr	GRCh37	5	52183794	52183794	+	synonymous_variant	Silent	SNP	A	T	T			CHC1725T																					ENST00000282588.6:c.921A>T	p.Ile307=	p.I307=	ENST00000282588	NM_181501.1	307	atA/atT	0	not done		synonymous	
ITGA1		inserm.fr	GRCh37	5	52189528	52189528	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC306T																					ENST00000282588.6:c.947G>T	p.Gly316Val	p.G316V	ENST00000282588	NM_181501.1	316	gGa/gTa	0	validated		probablydamaging	
PTPRS		inserm.fr	GRCh37	19	5221111	5221111	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC912T																					ENST00000357368.4:c.3355T>A	p.Phe1119Ile	p.F1119I	ENST00000357368	NM_002850.3	1119	Ttc/Atc	0	validated		benign	
FIGNL2		inserm.fr	GRCh37	12	52216065	52216065	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC1152T																					ENST00000564840.1:n.135G>A		*45*	ENST00000564840				0	not done		probablydamaging	
HAS1		inserm.fr	GRCh37	19	52216738	52216738	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1745T																					ENST00000222115.1:c.1679G>A	p.Trp560Ter	p.W560*	ENST00000222115	NM_001523.2	560	tGg/tAg	0	not done		damaging	
HAS1		inserm.fr	GRCh37	19	52216880	52216880	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000222115.1:c.1537C>A	p.Leu513Met	p.L513M	ENST00000222115	NM_001523.2	513	Ctg/Atg	0	not done		probablydamaging	
HAS1		inserm.fr	GRCh37	19	52217047	52217047	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000222115.1:c.1370G>A	p.Arg457His	p.R457H	ENST00000222115	NM_001523.2	457	cGc/cAc	0	validated		probablydamaging	
HAS1		inserm.fr	GRCh37	19	52219535	52219535	+	synonymous_variant	Silent	SNP	G	T	T			CHC432T																					ENST00000222115.1:c.1035C>A	p.Arg345=	p.R345=	ENST00000222115	NM_001523.2	345	cgC/cgA	0	not done		synonymous	
HAS1		inserm.fr	GRCh37	19	52223081	52223081	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000222115.1:c.80C>A	p.Ala27Asp	p.A27D	ENST00000222115	NM_001523.2	27	gCc/gAc	0	not done		benign	
ALAS1		inserm.fr	GRCh37	3	52240628	52240628	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1061T									Valid												ENST00000394965.2:c.1026G>T	p.Met342Ile	p.M342I	ENST00000394965	NM_000688.5	342	atG/atT	0	validated		possiblydamaging	
FPR1		inserm.fr	GRCh37	19	52250037	52250037	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM337T																					ENST00000595042.1:c.211G>A	p.Asp71Asn	p.D71N	ENST00000595042	NM_001193306.1	71	Gac/Aac	0	validated		probablydamaging	
FPR1		inserm.fr	GRCh37	19	52250087	52250087	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM695T																					ENST00000595042.1:c.161G>A	p.Arg54Gln	p.R54Q	ENST00000595042	NM_001193306.1	54	cGg/cAg	0	validated		possiblydamaging	
TLR9		inserm.fr	GRCh37	3	52256028	52256028	+	synonymous_variant	Silent	SNP	C	T	T			CHC1592T																					ENST00000360658.2:c.2304G>A	p.Ala768=	p.A768=	ENST00000360658	NM_017442.3	768	gcG/gcA	0	not done		synonymous	
ANKRD33		inserm.fr	GRCh37	12	52284511	52284511	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000301190.6:c.781C>T	p.Pro261Ser	p.P261S	ENST00000301190	NM_001130015.1	261	Ccc/Tcc	0	not done		probablydamaging	
ACVRL1		inserm.fr	GRCh37	12	52306909	52306909	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC301T																					ENST00000388922.4:c.88C>T	p.Pro30Ser	p.P30S	ENST00000388922	NM_000020.2	30	Ccg/Tcg	0	validated		benign	
ACVRL1		inserm.fr	GRCh37	12	52310000	52310000	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1603T																					ENST00000388922.4:c.1229G>T	p.Arg410Leu	p.R410L	ENST00000388922	NM_000020.2	410	cGc/cTc	0	not done		probablydamaging	
PXDNL		inserm.fr	GRCh37	8	52321320	52321320	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1725T																					ENST00000356297.4:c.2864T>A	p.Leu955Gln	p.L955Q	ENST00000356297	NM_144651.4	955	cTg/cAg	0	not done		probablydamaging	
GLYCTK		inserm.fr	GRCh37	3	52326816	52326816	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000436784.2:c.1246G>T	p.Gly416Cys	p.G416C	ENST00000436784		416	Ggc/Tgc	0	not done		probablydamaging	
FPR3		inserm.fr	GRCh37	19	52327290	52327290	+	synonymous_variant	Silent	SNP	C	T	T			CHC1700T																					ENST00000339223.4:c.289C>T	p.Leu97=	p.L97=	ENST00000339223	NM_002030.3	97	Cta/Tta	0	not done		synonymous	
ITGA2		inserm.fr	GRCh37	5	52360930	52360930	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000296585.5:c.1791C>T	p.Arg597=	p.R597=	ENST00000296585	NM_002203.3	597	cgC/cgT	0	not done		synonymous	
PXDNL		inserm.fr	GRCh37	8	52370149	52370149	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000356297.4:c.891G>A	p.Glu297=	p.E297=	ENST00000356297	NM_144651.4	297	gaG/gaA	0	not done		synonymous	
ACVR1B		inserm.fr	GRCh37	12	52374840	52374840	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2128T																					ENST00000541224.1:c.668G>T	p.Arg223Leu	p.R223L	ENST00000541224		223	cGg/cTg	0	not done		probablydamaging	
EDEM1		inserm.fr	GRCh37	3	5241287	5241287	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T									Valid												ENST00000256497.4:c.593A>T	p.Asn198Ile	p.N198I	ENST00000256497	NM_014674.2	198	aAt/aTt	0	validated		probablydamaging	
GNG2		inserm.fr	GRCh37	14	52433395	52433395	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000335281.4:c.206C>T	p.Ala69Val	p.A69V	ENST00000335281	NM_001243774.1	69	gCc/gTc	0	not done		benign	
PTPRS		inserm.fr	GRCh37	19	5243912	5243912	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000357368.4:c.1570G>A	p.Val524Met	p.V524M	ENST00000357368	NM_002850.3	524	Gtg/Atg	0	not done		probablydamaging	
NR4A1		inserm.fr	GRCh37	12	52450340	52450340	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC258T																					ENST00000360284.3:c.1108C>T	p.Pro370Ser	p.P370S	ENST00000360284	NM_001202233.1	370	Cca/Tca	0	validated		benign	
NR4A1		inserm.fr	GRCh37	12	52450967	52450967	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC2216T																					ENST00000360284.3:c.1324G>T	p.Glu442Ter	p.E442*	ENST00000360284	NM_001202233.1	442	Gag/Tag	0	not done		damaging	
PTPRS		inserm.fr	GRCh37	19	5246053	5246053	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM543T									Valid												ENST00000357368.4:c.722G>A	p.Arg241His	p.R241H	ENST00000357368	NM_002850.3	241	cGc/cAc	0	validated		probablydamaging	
ZNF350		inserm.fr	GRCh37	19	52469058	52469058	+	synonymous_variant	Silent	SNP	G	T	T			CHC051T																					ENST00000243644.4:c.648C>A	p.Ile216=	p.I216=	ENST00000243644	NM_021632.3	216	atC/atA	0	validated		synonymous	
ZNF350		inserm.fr	GRCh37	19	52469059	52469059	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC051T																					ENST00000243644.4:c.647T>A	p.Ile216Asn	p.I216N	ENST00000243644	NM_021632.3	216	aTc/aAc	0	validated		benign	
SEMA3G		inserm.fr	GRCh37	3	52475290	52475290	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2206T																					ENST00000231721.2:c.803G>A	p.Arg268His	p.R268H	ENST00000231721	NM_020163.1	268	cGc/cAc	0	not done		probablydamaging	
SEMA3G		inserm.fr	GRCh37	3	52475419	52475419	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC794T									Valid												ENST00000231721.2:c.674G>A	p.Arg225Gln	p.R225Q	ENST00000231721	NM_020163.1	225	cGg/cAg	0	validated		probablydamaging	
NISCH		inserm.fr	GRCh37	3	52489738	52489738	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000345716.4:c.81G>T	p.Val27=	p.V27=	ENST00000345716	NM_007184.3	27	gtG/gtT	0	validated		synonymous	
MYO5C		inserm.fr	GRCh37	15	52497253	52497253	+	synonymous_variant	Silent	SNP	C	T	T			BCM339T																					ENST00000261839.7:c.4629G>A	p.Thr1543=	p.T1543=	ENST00000261839	NM_018728.3	1543	acG/acA	0	validated		synonymous	
KTI12		inserm.fr	GRCh37	1	52498708	52498708	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000371614.1:c.726G>A	p.Ala242=	p.A242=	ENST00000371614	NM_138417.2	242	gcG/gcA	0	not done		synonymous	
MYO5C		inserm.fr	GRCh37	15	52504009	52504009	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB325T									Valid												ENST00000261839.7:c.4214G>A	p.Arg1405His	p.R1405H	ENST00000261839	NM_018728.3	1405	cGc/cAc	0	validated		probablydamaging	
NID2		inserm.fr	GRCh37	14	52509008	52509008	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM339T																					ENST00000216286.5:c.1640T>A	p.Val547Glu	p.V547E	ENST00000216286	NM_007361.3	547	gTg/gAg	0	validated		probablydamaging	
NISCH		inserm.fr	GRCh37	3	52512496	52512496	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM275T									Valid												ENST00000345716.4:c.1205C>T	p.Pro402Leu	p.P402L	ENST00000345716	NM_007184.3	402	cCg/cTg	0	validated		probablydamaging	
STAB1		inserm.fr	GRCh37	3	52537878	52537878	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC097T																					ENST00000321725.6:c.982C>T	p.Arg328Trp	p.R328W	ENST00000321725	NM_015136.2	328	Cgg/Tgg	0	not done		probablydamaging	
STAB1		inserm.fr	GRCh37	3	52551619	52551619	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC301T																					ENST00000321725.6:c.4617G>T	p.Glu1539Asp	p.E1539D	ENST00000321725	NM_015136.2	1539	gaG/gaT	0	validated		benign	
STAB1		inserm.fr	GRCh37	3	52552806	52552806	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1725T																					ENST00000321725.6:c.4955G>T	p.Arg1652Leu	p.R1652L	ENST00000321725	NM_015136.2	1652	cGg/cTg	0	not done		benign	
KRT80		inserm.fr	GRCh37	12	52565291	52565291	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000394815.2:c.1250G>A	p.Gly417Asp	p.G417D	ENST00000394815	NM_182507.2	417	gGc/gAc	0	not done		benign	
BCAS1		inserm.fr	GRCh37	20	52570225	52570225	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC912T									Valid												ENST00000395961.3:c.1426T>A	p.Ser476Thr	p.S476T	ENST00000395961	NM_003657.2	476	Tcc/Acc	0	validated		benign	
MYO5C		inserm.fr	GRCh37	15	52571811	52571811	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261839.7:c.199G>A	p.Val67Met	p.V67M	ENST00000261839	NM_018728.3	67	Gtg/Atg	0	not done		probablydamaging	
A1CF		inserm.fr	GRCh37	10	52573803	52573803	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	T	T			CHC1720T																					ENST00000373995.3:c.1166-5T>A		p.X389_splice	ENST00000373995	NM_138933.2			0	validated		synonymous	
KRT80		inserm.fr	GRCh37	12	52579302	52579302	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000394815.2:c.370G>A	p.Ala124Thr	p.A124T	ENST00000394815	NM_182507.2	124	Gcc/Acc	0	not done		benign	
KRT7		inserm.fr	GRCh37	12	52628951	52628951	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM321T									Valid												ENST00000331817.5:c.337G>T	p.Glu113Ter	p.E113*	ENST00000331817	NM_005556.3	113	Gag/Tag	0	validated		damaging	
KRT7		inserm.fr	GRCh37	12	52631312	52631312	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1743T																					ENST00000331817.5:c.556C>T	p.His186Tyr	p.H186Y	ENST00000331817	NM_005556.3	186	Cac/Tac	0	not done		benign	
BCAS1		inserm.fr	GRCh37	20	52645121	52645121	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC155T																					ENST00000395961.3:c.533G>A	p.Gly178Glu	p.G178E	ENST00000395961	NM_003657.2	178	gGg/gAg	0	validated		possiblydamaging	
ZNF836		inserm.fr	GRCh37	19	52660688	52660688	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC121T																					ENST00000322146.8:c.248T>A	p.Val83Asp	p.V83D	ENST00000322146	NM_001102657.1	83	gTt/gAt	0	validated		benign	
MYO5A		inserm.fr	GRCh37	15	52667534	52667534	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000399231.3:c.2544G>A	p.Leu848=	p.L848=	ENST00000399231	NM_000259.3	848	ttG/ttA	0	not done		synonymous	
GSTA5		inserm.fr	GRCh37	6	52697702	52697702	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000370989.2:c.501G>A	p.Val167=	p.V167=	ENST00000370989		167	gtG/gtA	0	not done		synonymous	
PPP2R1A		inserm.fr	GRCh37	19	52724249	52724249	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM325T																					ENST00000322088.6:c.1381G>T	p.Ala461Ser	p.A461S	ENST00000322088	NM_014225.5	461	Gca/Tca	0	validated		benign	
PPP2R1A		inserm.fr	GRCh37	19	52724343	52724343	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1568T																					ENST00000322088.6:c.1475A>T	p.Asp492Val	p.D492V	ENST00000322088	NM_014225.5	492	gAc/gTc	0	not done		possiblydamaging	
GNL3		inserm.fr	GRCh37	3	52726992	52726992	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1611T																					ENST00000418458.1:c.974C>T	p.Pro325Leu	p.P325L	ENST00000418458	NM_014366.4	325	cCa/cTa	0	not done		benign	
GNL3		inserm.fr	GRCh37	3	52727244	52727244	+	synonymous_variant	Silent	SNP	G	T	T			CHC314T																					ENST00000418458.1:c.1086G>T	p.Leu362=	p.L362=	ENST00000418458	NM_014366.4	362	ctG/ctT	0	validated		synonymous	
NEK3		inserm.fr	GRCh37	13	52728084	52728084	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000400357.2:c.255G>A	p.Gly85=	p.G85=	ENST00000400357		85	ggG/ggA	0	not done		synonymous	
KRT85		inserm.fr	GRCh37	12	52760844	52760844	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000257901.3:c.346G>A	p.Ala116Thr	p.A116T	ENST00000257901	NM_002283.3	116	Gca/Aca	0	validated		possiblydamaging	
KRT84		inserm.fr	GRCh37	12	52771860	52771860	+	synonymous_variant	Silent	SNP	G	T	T			BCM783T																					ENST00000257951.3:c.1761C>A	p.Val587=	p.V587=	ENST00000257951	NM_033045.3	587	gtC/gtA	0	validated		synonymous	
KRT84		inserm.fr	GRCh37	12	52774876	52774876	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1591T																					ENST00000257951.3:c.1191C>A	p.His397Gln	p.H397Q	ENST00000257951	NM_033045.3	397	caC/caA	0	not done		possiblydamaging	
ZNF766		inserm.fr	GRCh37	19	52785375	52785375	+	synonymous_variant	Silent	SNP	A	T	T			CHC2127T																					ENST00000439461.1:c.30A>T	p.Thr10=	p.T10=	ENST00000439461	NM_001010851.2	10	acA/acT	0	not done		synonymous	
PTGER2		inserm.fr	GRCh37	14	52793962	52793962	+	synonymous_variant	Silent	SNP	C	T	T			CHC1736T																					ENST00000245457.5:c.867C>T	p.Thr289=	p.T289=	ENST00000245457	NM_000956.3	289	acC/acT	0	not done		synonymous	
KRT82		inserm.fr	GRCh37	12	52797639	52797639	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC614T									Valid												ENST00000257974.2:c.466C>A	p.Gln156Lys	p.Q156K	ENST00000257974	NM_033033.3	156	Cag/Aag	0	validated		possiblydamaging	
KRT82		inserm.fr	GRCh37	12	52799957	52799957	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000257974.2:c.105G>A	p.Lys35=	p.K35=	ENST00000257974	NM_033033.3	35	aaG/aaA	0	not done		synonymous	
ZFYVE9		inserm.fr	GRCh37	1	52811840	52811840	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1746T																					ENST00000287727.3:c.4225G>T	p.Glu1409Ter	p.E1409*	ENST00000287727	NM_004799.3	1409	Gag/Tag	0	not done		damaging	
ZNF480		inserm.fr	GRCh37	19	52817466	52817466	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1082T																					ENST00000595962.1:c.133G>T	p.Asp45Tyr	p.D45Y	ENST00000595962	NM_144684.2	45	Gac/Tac	0	validated		probablydamaging	
KRT75		inserm.fr	GRCh37	12	52822167	52822167	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000252245.5:c.1255G>A	p.Ala419Thr	p.A419T	ENST00000252245	NM_004693.2	419	Gcc/Acc	0	not done		probablydamaging	
KRT75		inserm.fr	GRCh37	12	52822448	52822448	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000252245.5:c.1115G>A	p.Arg372His	p.R372H	ENST00000252245	NM_004693.2	372	cGc/cAc	0	not done		possiblydamaging	
CC2D1B		inserm.fr	GRCh37	1	52822687	52822687	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM723T																					ENST00000371586.2:c.1882C>A	p.Leu628Met	p.L628M	ENST00000371586	NM_032449.2	628	Ctg/Atg	0	validated		possiblydamaging	
ZNF480		inserm.fr	GRCh37	19	52825034	52825034	+	synonymous_variant	Silent	SNP	C	T	T			CHC1708T																					ENST00000595962.1:c.531C>T	p.Pro177=	p.P177=	ENST00000595962	NM_144684.2	177	ccC/ccT	0	not done		synonymous	
KRT75		inserm.fr	GRCh37	12	52828003	52828003	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM275T																					ENST00000252245.5:c.86G>A	p.Arg29His	p.R29H	ENST00000252245	NM_004693.2	29	cGc/cAc	0	validated		probablydamaging	
KRT6B		inserm.fr	GRCh37	12	52845814	52845814	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000252252.3:c.49G>A	p.Gly17Ser	p.G17S	ENST00000252252	NM_005555.3	17	Ggt/Agt	0	not done		benign	
ORC1		inserm.fr	GRCh37	1	52861834	52861834	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371568.3:c.605G>A	p.Trp202Ter	p.W202*	ENST00000371568	NM_001190818.1	202	tGg/tAg	0	not done		damaging	
KRT6C		inserm.fr	GRCh37	12	52864375	52864375	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2127T																					ENST00000252250.6:c.1117G>A	p.Asp373Asn	p.D373N	ENST00000252250	NM_173086.4	373	Gac/Aac	0	not done		possiblydamaging	
KRT6C		inserm.fr	GRCh37	12	52864994	52864994	+	synonymous_variant	Silent	SNP	G	T	T			CHC1725T																					ENST00000252250.6:c.999C>A	p.Ile333=	p.I333=	ENST00000252250	NM_173086.4	333	atC/atA	0	not done		synonymous	
ICK		inserm.fr	GRCh37	6	52871165	52871165	+	synonymous_variant	Silent	SNP	G	T	T			CHC793T																					ENST00000356971.3:c.1692C>A	p.Ile564=	p.I564=	ENST00000356971	NM_016513.4	564	atC/atA	0	validated		synonymous	
ICK		inserm.fr	GRCh37	6	52877016	52877016	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2208T																					ENST00000356971.3:c.1162G>A	p.Ala388Thr	p.A388T	ENST00000356971	NM_016513.4	388	Gct/Act	0	not done		benign	
ATOSA		inserm.fr	GRCh37	15	52893298	52893298	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261844.7:c.2525G>A	p.Ser842Asn	p.S842N	ENST00000261844	NM_019600.2	842	aGc/aAc	0	not done		benign	
SGCB		inserm.fr	GRCh37	4	52894896	52894896	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000381431.5:c.621G>A	p.Arg207=	p.R207=	ENST00000381431	NM_000232.4	207	agG/agA	0	not done		damaging	
ATOSA		inserm.fr	GRCh37	15	52903369	52903369	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM567T																					ENST00000261844.7:c.488T>A	p.Leu163Gln	p.L163Q	ENST00000261844	NM_019600.2	163	cTg/cAg	0	validated		probablydamaging	
HBE1		inserm.fr	GRCh37	11	5291115	5291115	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000380237.1:c.6G>A	p.Val2=	p.V2=	ENST00000380237		2	gtG/gtA	0	validated		synonymous	
KRT5		inserm.fr	GRCh37	12	52914046	52914046	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000252242.4:c.35G>A	p.Gly12Glu	p.G12E	ENST00000252242	NM_000424.3	12	gGg/gAg	0	not done		benign	
ZBTB14		inserm.fr	GRCh37	18	5292006	5292006	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000357006.4:c.201G>A	p.Lys67=	p.K67=	ENST00000357006	NM_001143823.2	67	aaG/aaA	0	not done		synonymous	
TCF4		inserm.fr	GRCh37	18	52921932	52921932	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000398339.1:c.1453-1G>A		p.X485_splice	ENST00000398339	NM_001243226.1			0	not done		damaging	
SPATA18		inserm.fr	GRCh37	4	52927024	52927024	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000295213.4:c.270C>T	p.Ser90=	p.S90=	ENST00000295213	NM_145263.2	90	tcC/tcT	0	not done		synonymous	
ZNF534		inserm.fr	GRCh37	19	52941267	52941267	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1052T									Valid												ENST00000332323.6:c.593C>T	p.Pro198Leu	p.P198L	ENST00000332323	NM_001143939.1	198	cCt/cTt	0	validated		possiblydamaging	
ZNF534		inserm.fr	GRCh37	19	52941994	52941994	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000332323.6:c.1320C>T	p.Ala440=	p.A440=	ENST00000332323	NM_001143939.1	440	gcC/gcT	0	not done		synonymous	
FBXO9		inserm.fr	GRCh37	6	52943604	52943604	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM567T																					ENST00000244426.6:c.345G>T	p.Lys115Asn	p.K115N	ENST00000244426	NM_012347.4	115	aaG/aaT	0	validated		possiblydamaging	
TXNDC16		inserm.fr	GRCh37	14	52955193	52955193	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000281741.4:c.996G>A	p.Val332=	p.V332=	ENST00000281741	NM_020784.2	332	gtG/gtA	0	validated		synonymous	
KRT74		inserm.fr	GRCh37	12	52960934	52960934	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000305620.2:c.1409G>A	p.Ser470Asn	p.S470N	ENST00000305620	NM_175053.3	470	aGc/aAc	0	not done		benign	
SFMBT1		inserm.fr	GRCh37	3	52977574	52977574	+	synonymous_variant	Silent	SNP	C	T	T			CHC1611T																					ENST00000394752.3:c.159G>A	p.Gly53=	p.G53=	ENST00000394752	NM_016329.3	53	ggG/ggA	0	not done		synonymous	
KRT72		inserm.fr	GRCh37	12	52979922	52979922	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000293745.2:c.1380G>A	p.Gly460=	p.G460=	ENST00000293745	NM_080747.2	460	ggG/ggA	0	not done		synonymous	
KRT72		inserm.fr	GRCh37	12	52986266	52986266	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1754T																					ENST00000293745.2:c.712G>A	p.Ala238Thr	p.A238T	ENST00000293745	NM_080747.2	238	Gct/Act	0	not done		probablydamaging	
VPS36		inserm.fr	GRCh37	13	52990036	52990036	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000378060.4:c.1090G>A	p.Gly364Ser	p.G364S	ENST00000378060	NM_016075.2	364	Ggc/Agc	0	not done		probablydamaging	
KRT72		inserm.fr	GRCh37	12	52992771	52992771	+	synonymous_variant	Silent	SNP	C	T	T			BCM543T																					ENST00000293745.2:c.552G>A	p.Gln184=	p.Q184=	ENST00000293745	NM_080747.2	184	caG/caA	0	validated		synonymous	
GCM1		inserm.fr	GRCh37	6	52993444	52993444	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000259803.7:c.871C>A	p.His291Asn	p.H291N	ENST00000259803	NM_003643.3	291	Cat/Aat	0	not done		benign	
KRT72		inserm.fr	GRCh37	12	52994972	52994972	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1534T																					ENST00000293745.2:c.265C>A	p.Pro89Thr	p.P89T	ENST00000293745	NM_080747.2	89	Ccc/Acc	0	validated		possiblydamaging	
KRT73		inserm.fr	GRCh37	12	53009952	53009952	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC451T																					ENST00000305748.3:c.660G>A	p.Lys220=	p.K220=	ENST00000305748	NM_175068.2	220	aaG/aaA	0	not done		synonymous	
KRT1		inserm.fr	GRCh37	12	53069050	53069050	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000252244.3:c.1862G>A	p.Gly621Glu	p.G621E	ENST00000252244	NM_006121.3	621	gGg/gAg	0	not done		benign	
KRT77		inserm.fr	GRCh37	12	53085100	53085100	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000341809.3:c.1586G>A	p.Gly529Glu	p.G529E	ENST00000341809	NM_175078.2	529	gGg/gAg	0	not done		probablydamaging	
KRT77		inserm.fr	GRCh37	12	53096941	53096941	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000341809.3:c.278G>A	p.Gly93Glu	p.G93E	ENST00000341809	NM_175078.2	93	gGg/gAg	0	not done		possiblydamaging	
POM121L12		inserm.fr	GRCh37	7	53103688	53103688	+	synonymous_variant	Silent	SNP	G	T	T			CHC2211T																					ENST00000408890.4:c.324G>T	p.Leu108=	p.L108=	ENST00000408890	NM_182595.3	108	ctG/ctT	0	validated		synonymous	
NUP88		inserm.fr	GRCh37	17	5312126	5312126	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000573584.1:c.784G>A	p.Val262Ile	p.V262I	ENST00000573584	NM_002532.4	262	Gta/Ata	0	not done		benign	
FAM159A		inserm.fr	GRCh37	1	53122521	53122521	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000517870.1:c.382C>T	p.Pro128Ser	p.P128S	ENST00000517870	NM_001042693.1	128	Cca/Tca	0	not done		benign	
ERO1L		inserm.fr	GRCh37	14	53138418	53138418	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000395686.3:c.438G>A	p.Glu146=	p.E146=	ENST00000395686	NM_014584.1	146	gaG/gaA	0	not done		synonymous	
ELOVL5		inserm.fr	GRCh37	6	53139970	53139970	+	synonymous_variant	Silent	SNP	C	T	T			CHC1616T																					ENST00000541407.1:c.495G>A	p.Gln165=	p.Q165=	ENST00000541407		165	caG/caA	0	not done		synonymous	
STXBP4		inserm.fr	GRCh37	17	53150293	53150293	+	synonymous_variant	Silent	SNP	C	T	T			BCM545T																					ENST00000376352.2:c.1044C>T	p.Ala348=	p.A348=	ENST00000376352	NM_178509.5	348	gcC/gcT	0	validated		synonymous	
KRT76		inserm.fr	GRCh37	12	53169387	53169387	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC2052T																					ENST00000332411.2:c.601-1G>A		p.X201_splice	ENST00000332411	NM_015848.4			0	validated		damaging	
KRT3		inserm.fr	GRCh37	12	53185045	53185045	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000417996.2:c.1480G>A	p.Ala494Thr	p.A494T	ENST00000417996	NM_057088.2	494	Gcc/Acc	0	not done		probablydamaging	
KRT4		inserm.fr	GRCh37	12	53205566	53205566	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC614T																					ENST00000551956.1:c.658G>A	p.Val220Met	p.V220M	ENST00000551956		220	Gtg/Atg	0	validated		probablydamaging	
ZNF611		inserm.fr	GRCh37	19	53209644	53209644	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T																					ENST00000543227.1:c.664C>A	p.Gln222Lys	p.Q222K	ENST00000543227	NM_001161499.1	222	Cag/Aag	0	validated		probablydamaging	
KRT79		inserm.fr	GRCh37	12	53216916	53216916	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000330553.5:c.1251G>A	p.Gln417=	p.Q417=	ENST00000330553	NM_175834.2	417	caG/caA	0	not done		synonymous	
KDM5C		inserm.fr	GRCh37	X	53226114	53226114	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1775T																					ENST00000375401.3:c.2735G>A	p.Gly912Glu	p.G912E	ENST00000375401	NM_004187.3	912	gGg/gAg	0	validated		benign	
KRT78		inserm.fr	GRCh37	12	53233082	53233082	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000304620.4:c.1378G>A	p.Gly460Arg	p.G460R	ENST00000304620	NM_173352.2	460	Ggg/Agg	0	not done		benign	
ZNF600		inserm.fr	GRCh37	19	53270214	53270214	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000338230.3:c.795G>A	p.Lys265=	p.K265=	ENST00000338230	NM_198457.2	265	aaG/aaA	0	not done		synonymous	
IQSEC2		inserm.fr	GRCh37	X	53283732	53283732	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM275T									Valid												ENST00000396435.3:c.1381G>A	p.Glu461Lys	p.E461K	ENST00000396435	NM_001111125.2	461	Gag/Aag	0	validated		probablydamaging	
ZNF28		inserm.fr	GRCh37	19	53303561	53303561	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1545T																					ENST00000457749.2:c.1537C>A	p.His513Asn	p.H513N	ENST00000457749	NM_006969.3	513	Cat/Aat	0	not done		probablydamaging	
ZNF468		inserm.fr	GRCh37	19	53352380	53352380	+	synonymous_variant	Silent	SNP	C	T	T			BCM703T																					ENST00000595646.1:c.102G>A	p.Arg34=	p.R34=	ENST00000595646		34	agG/agA	0	validated		synonymous	
RLN1		inserm.fr	GRCh37	9	5335278	5335278	+	synonymous_variant	Silent	SNP	G	T	T			CHC1600T																					ENST00000223862.1:c.531C>A	p.Thr177=	p.T177=	ENST00000223862	NM_006911.3	177	acC/acA	0	not done		synonymous	
CHD9		inserm.fr	GRCh37	16	53355460	53355460	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1053T																					ENST00000566029.1:c.7688C>T	p.Pro2563Leu	p.P2563L	ENST00000566029		2563	cCt/cTt	0	validated		probablydamaging	
ZNF320		inserm.fr	GRCh37	19	53383955	53383955	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000595635.1:c.1424G>A	p.Gly475Asp	p.G475D	ENST00000595635	NM_207333.2	475	gGc/gAc	0	not done		possiblydamaging	
ZNF320		inserm.fr	GRCh37	19	53383988	53383988	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC205T									Valid												ENST00000595635.1:c.1391C>A	p.Thr464Asn	p.T464N	ENST00000595635	NM_207333.2	464	aCt/aAt	0	validated		probablydamaging	
PCDH8		inserm.fr	GRCh37	13	53421206	53421206	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000377942.3:c.1366G>A	p.Asp456Asn	p.D456N	ENST00000377942	NM_002590.3	456	Gac/Aac	0	not done		probablydamaging	
CSTF2T		inserm.fr	GRCh37	10	53458592	53458592	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC889T																					ENST00000331173.4:c.718C>A	p.Gln240Lys	p.Q240K	ENST00000331173	NM_015235.2	240	Cag/Aag	0	not done		probablydamaging	
CSTF2T		inserm.fr	GRCh37	10	53459231	53459231	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000331173.4:c.79G>A	p.Ala27Thr	p.A27T	ENST00000331173	NM_015235.2	27	Gca/Aca	0	not done		possiblydamaging	
ERVV-1		inserm.fr	GRCh37	19	53518662	53518662	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC432T																					ENST00000602168.1:c.1319G>T	p.Gly440Val	p.G440V	ENST00000602168	NM_152473.2	440	gGg/gTg	0	not done			
PODN		inserm.fr	GRCh37	1	53542935	53542935	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1743T																					ENST00000312553.5:c.799G>T	p.Val267Phe	p.V267F	ENST00000312553	NM_001199081.1	267	Gtc/Ttc	0	not done		probablydamaging	
PODN		inserm.fr	GRCh37	1	53544151	53544151	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000312553.5:c.1113C>T	p.Ser371=	p.S371=	ENST00000312553	NM_001199081.1	371	agC/agT	0	not done		synonymous	
CSAD		inserm.fr	GRCh37	12	53563867	53563867	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000267085.4:c.772G>A	p.Ala258Thr	p.A258T	ENST00000267085	NM_015989.4	258	Gcc/Acc	0	not done		possiblydamaging	
RB1CC1		inserm.fr	GRCh37	8	53569437	53569437	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000025008.5:c.2952G>A	p.Glu984=	p.E984=	ENST00000025008	NM_014781.4	984	gaG/gaA	0	not done		synonymous	
HUWE1		inserm.fr	GRCh37	X	53571645	53571645	+	synonymous_variant	Silent	SNP	A	T	T			CHC1556T																					ENST00000342160.3:c.11127T>A	p.Ser3709=	p.S3709=	ENST00000342160		3709	tcT/tcA	0	not done		synonymous	
RB1CC1		inserm.fr	GRCh37	8	53574241	53574241	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000025008.5:c.1212G>A	p.Lys404=	p.K404=	ENST00000025008	NM_014781.4	404	aaG/aaA	0	not done		synonymous	
HUWE1		inserm.fr	GRCh37	X	53575159	53575159	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000342160.3:c.10111G>A	p.Ala3371Thr	p.A3371T	ENST00000342160		3371	Gcc/Acc	0	not done		benign	
RB1CC1		inserm.fr	GRCh37	8	53580691	53580691	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000025008.5:c.1063G>A	p.Asp355Asn	p.D355N	ENST00000025008	NM_014781.4	355	Gat/Aat	0	not done		probablydamaging	
ITGB7		inserm.fr	GRCh37	12	53587621	53587621	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1207T																					ENST00000267082.5:c.1373G>A	p.Arg458Gln	p.R458Q	ENST00000267082	NM_000889.1	458	cGg/cAg	0	validated		probablydamaging	
HUWE1		inserm.fr	GRCh37	X	53595834	53595834	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000342160.3:c.6525G>A	p.Arg2175=	p.R2175=	ENST00000342160		2175	agG/agA	0	not done		damaging	
ZNF415		inserm.fr	GRCh37	19	53612814	53612814	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1754T																					ENST00000500065.4:c.484T>A	p.Cys162Ser	p.C162S	ENST00000500065	NM_001136038.2	162	Tgt/Agt	0	not done		probablydamaging	
RARG		inserm.fr	GRCh37	12	53613831	53613831	+	intron_variant	Intron	SNP	C	T	T			CHC2128T																					ENST00000425354.2:c.185-4253G>A		*62*	ENST00000425354	NM_000966.5			0	not done		synonymous	
RARG		inserm.fr	GRCh37	12	53613914	53613914	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000425354.2:c.185-4336G>A		*62*	ENST00000425354	NM_000966.5			0	not done		synonymous	
DDHD1		inserm.fr	GRCh37	14	53618995	53618995	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC2141T																					ENST00000323669.5:c.822C>A	p.Tyr274Ter	p.Y274*	ENST00000323669	NM_001160148.1	274	taC/taA	0	not done		damaging	
ZNF347		inserm.fr	GRCh37	19	53651943	53651943	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM543T																					ENST00000452676.2:c.265G>A	p.Val89Met	p.V89M	ENST00000452676	NM_001172674.1	89	Gtg/Atg	0	validated		probablydamaging	
ZNF347		inserm.fr	GRCh37	19	53652535	53652535	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC303T									Valid												ENST00000452676.2:c.101G>A	p.Arg34Lys	p.R34K	ENST00000452676	NM_001172674.1	34	aGg/aAg	0	validated		possiblydamaging	
CPT2		inserm.fr	GRCh37	1	53668053	53668053	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1611T																					ENST00000371486.3:c.292C>T	p.Gln98Ter	p.Q98*	ENST00000371486	NM_000098.2	98	Cag/Tag	0	not done		damaging	
ZNF665		inserm.fr	GRCh37	19	53668682	53668682	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC912T																					ENST00000396424.3:c.1061T>A	p.Val354Asp	p.V354D	ENST00000396424	NM_024733.3	354	gTc/gAc	0	validated		probablydamaging	
ESPL1		inserm.fr	GRCh37	12	53675310	53675310	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2208T																					ENST00000257934.4:c.2519C>T	p.Ala840Val	p.A840V	ENST00000257934	NM_012291.4	840	gCa/gTa	0	not done		benign	
ESPL1		inserm.fr	GRCh37	12	53683903	53683903	+	synonymous_variant	Silent	SNP	C	T	T			BCB325T																					ENST00000257934.4:c.5148C>T	p.Leu1716=	p.L1716=	ENST00000257934	NM_012291.4	1716	ctC/ctT	0	validated		synonymous	
ESPL1		inserm.fr	GRCh37	12	53686748	53686748	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T									Valid												ENST00000257934.4:c.6155C>T	p.Ala2052Val	p.A2052V	ENST00000257934	NM_012291.4	2052	gCt/gTt	0	validated		probablydamaging	
C12orf10		inserm.fr	GRCh37	12	53693961	53693961	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000267103.5:c.244C>T	p.Pro82Ser	p.P82S	ENST00000267103	NM_021640.3	82	Ccc/Tcc	0	validated		benign	
SP7		inserm.fr	GRCh37	12	53722697	53722697	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB307T									Valid												ENST00000536324.2:c.529G>A	p.Gly177Arg	p.G177R	ENST00000536324	NM_001173467.1	177	Ggg/Agg	0	validated		possiblydamaging	
LRP8		inserm.fr	GRCh37	1	53730056	53730056	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1183T																					ENST00000306052.6:c.1440C>A	p.Asp480Glu	p.D480E	ENST00000306052	NM_004631.4	480	gaC/gaA	0	not done		possiblydamaging	
RASL11B		inserm.fr	GRCh37	4	53731857	53731857	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2052T																					ENST00000248706.3:c.632C>T	p.Pro211Leu	p.P211L	ENST00000248706	NM_023940.2	211	cCc/cTc	0	not done		probablydamaging	
LRRC1		inserm.fr	GRCh37	6	53743824	53743824	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1743T																					ENST00000370888.1:c.311G>T	p.Cys104Phe	p.C104F	ENST00000370888	NM_018214.4	104	tGt/tTt	0	not done		possiblydamaging	
ZNF677		inserm.fr	GRCh37	19	53747061	53747061	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000333952.4:c.105C>A	p.Asp35Glu	p.D35E	ENST00000333952		35	gaC/gaA	0	not done		possiblydamaging	
CACNA1D		inserm.fr	GRCh37	3	53753788	53753788	+	synonymous_variant	Silent	SNP	C	T	T			BCM371T																					ENST00000288139.4:c.1545C>T	p.Ala515=	p.A515=	ENST00000288139	NM_000720.3	515	gcC/gcT	0	validated		synonymous	
SP1		inserm.fr	GRCh37	12	53776585	53776585	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1700T																					ENST00000327443.4:c.854C>T	p.Thr285Met	p.T285M	ENST00000327443	NM_138473.2	285	aCg/aTg	0	not done		probablydamaging	
BIRC8		inserm.fr	GRCh37	19	53793178	53793178	+	synonymous_variant	Silent	SNP	A	T	T			BCM399T																					ENST00000426466.1:c.450T>A	p.Val150=	p.V150=	ENST00000426466	NM_033341.4	150	gtT/gtA	0	validated		synonymous	
AMHR2		inserm.fr	GRCh37	12	53823266	53823266	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1602T																					ENST00000257863.4:c.997G>T	p.Asp333Tyr	p.D333Y	ENST00000257863	NM_001164690.1	333	Gat/Tat	0	not done		probablydamaging	
CACNA1D		inserm.fr	GRCh37	3	53837571	53837571	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000288139.4:c.5617G>T	p.Glu1873Ter	p.E1873*	ENST00000288139	NM_000720.3	1873	Gag/Tag	0	not done		damaging	
CHDH		inserm.fr	GRCh37	3	53852201	53852201	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM617T									Valid												ENST00000315251.6:c.1388G>A	p.Arg463His	p.R463H	ENST00000315251	NM_018397.4	463	cGt/cAt	0	validated		probablydamaging	
WDR72		inserm.fr	GRCh37	15	53908081	53908081	+	synonymous_variant	Silent	SNP	G	T	T			CHC1061T																					ENST00000396328.1:c.2322C>A	p.Ile774=	p.I774=	ENST00000396328	NM_182758.3	774	atC/atA	0	validated		synonymous	
DMRTB1		inserm.fr	GRCh37	1	53925364	53925364	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000371445.3:c.238G>T	p.Ala80Ser	p.A80S	ENST00000371445	NM_033067.1	80	Gct/Tct	0	not done		possiblydamaging	
ASB3		inserm.fr	GRCh37	2	53956594	53956594	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000352846.3:c.582+1G>A		p.X194_splice	ENST00000352846	NM_001164165.1			0	not done		damaging	
PHF8		inserm.fr	GRCh37	X	53966896	53966896	+	synonymous_variant	Silent	SNP	C	T	T			CHC2034T																					ENST00000357988.5:c.2811G>A	p.Lys937=	p.K937=	ENST00000357988	NM_001184896.1	937	aaG/aaA	0	not done		synonymous	
TNRC18		inserm.fr	GRCh37	7	5399157	5399157	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1545T																					ENST00000430969.1:c.4705G>A	p.Gly1569Arg	p.G1569R	ENST00000430969	NM_001080495.2	1569	Gga/Aga	0	not done		probablydamaging	
PHF8		inserm.fr	GRCh37	X	54011543	54011543	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000357988.5:c.2355G>A	p.Gly785=	p.G785=	ENST00000357988	NM_001184896.1	785	ggG/ggA	0	not done		synonymous	
TNRC18		inserm.fr	GRCh37	7	5401628	5401628	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000430969.1:c.4432G>A	p.Ala1478Thr	p.A1478T	ENST00000430969	NM_001080495.2	1478	Gcc/Acc	0	not done		probablydamaging	
PRKG1		inserm.fr	GRCh37	10	54031179	54031179	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC097T																					ENST00000373980.4:c.1243A>T	p.Thr415Ser	p.T415S	ENST00000373980	NM_006258.3	415	Aca/Tca	0	not done		probablydamaging	
GLIS1		inserm.fr	GRCh37	1	54059963	54059963	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000312233.2:c.613G>A	p.Ala205Thr	p.A205T	ENST00000312233	NM_147193.2	205	Gcc/Acc	0	not done		possiblydamaging	
EPB41L3		inserm.fr	GRCh37	18	5406917	5406917	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000341928.2:c.2208C>A	p.Ser736Arg	p.S736R	ENST00000341928	NM_012307.3	736	agC/agA	0	not done		probablydamaging	
FAM120C		inserm.fr	GRCh37	X	54114246	54114246	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC898T																					ENST00000375180.2:c.2579G>A	p.Ser860Asn	p.S860N	ENST00000375180	NM_017848.4	860	aGc/aAc	0	not done		benign	
OR51M1		inserm.fr	GRCh37	11	5411440	5411440	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1602T																					ENST00000328611.3:c.812C>T	p.Ser271Phe	p.S271F	ENST00000328611	NM_001004756.2	271	tCc/tTc	0	not done		probablydamaging	
CALCOCO1		inserm.fr	GRCh37	12	54117434	54117434	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000550804.1:c.393G>A	p.Glu131=	p.E131=	ENST00000550804		131	gaG/gaA	0	not done		synonymous	
OPRK1		inserm.fr	GRCh37	8	54142077	54142077	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1566T																					ENST00000265572.3:c.923C>A	p.Ala308Asp	p.A308D	ENST00000265572	NM_000912.3	308	gCt/gAt	0	not done		possiblydamaging	
UCN3		inserm.fr	GRCh37	10	5416156	5416156	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1594T																					ENST00000380433.3:c.473G>T	p.Gly158Val	p.G158V	ENST00000380433	NM_053049.2	158	gGg/gTg	0	not done		probablydamaging	
EPB41L3		inserm.fr	GRCh37	18	5419752	5419752	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000341928.2:c.1464G>A	p.Gly488=	p.G488=	ENST00000341928	NM_012307.3	488	ggG/ggA	0	not done		synonymous	
TINAG		inserm.fr	GRCh37	6	54245351	54245351	+	synonymous_variant	Silent	SNP	G	T	T			CHC2034T																					ENST00000259782.4:c.1278G>T	p.Gly426=	p.G426=	ENST00000259782	NM_014464.3	426	ggG/ggT	0	not done		synonymous	
TNRC18		inserm.fr	GRCh37	7	5427331	5427331	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000430969.1:c.2124G>A	p.Glu708=	p.E708=	ENST00000430969	NM_001080495.2	708	gaG/gaA	0	not done		synonymous	
WNK3		inserm.fr	GRCh37	X	54282255	54282255	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000354646.2:c.2168G>A	p.Gly723Asp	p.G723D	ENST00000354646	NM_020922.4	723	gGc/gAc	0	not done		probablydamaging	
NDC1		inserm.fr	GRCh37	1	54293733	54293733	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371429.3:c.394G>A	p.Ala132Thr	p.A132T	ENST00000371429	NM_001168551.1	132	Gct/Act	0	not done		probablydamaging	
UNC13C		inserm.fr	GRCh37	15	54305603	54305603	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2206T																					ENST00000260323.11:c.503A>T	p.Asp168Val	p.D168V	ENST00000260323	NM_001080534.1	168	gAc/gTc	0	not done		probablydamaging	
NLRP12		inserm.fr	GRCh37	19	54308655	54308655	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000324134.6:c.2293G>A	p.Ala765Thr	p.A765T	ENST00000324134	NM_144687.3	765	Gct/Act	0	not done		probablydamaging	
WNK3		inserm.fr	GRCh37	X	54319359	54319359	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1035T																					ENST00000354646.2:c.1999G>A	p.Val667Ile	p.V667I	ENST00000354646	NM_020922.4	667	Gtt/Att	0	validated		benign	
GZMK		inserm.fr	GRCh37	5	54329609	54329609	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000231009.2:c.650C>T	p.Pro217Leu	p.P217L	ENST00000231009	NM_002104.2	217	cCc/cTc	0	not done		probablydamaging	
YIPF1		inserm.fr	GRCh37	1	54348926	54348926	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC451T																					ENST00000072644.1:c.55C>A	p.Leu19Met	p.L19M	ENST00000072644	NM_018982.4	19	Ctg/Atg	0	validated		possiblydamaging	
HOXC10		inserm.fr	GRCh37	12	54379723	54379723	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000303460.4:c.680C>T	p.Pro227Leu	p.P227L	ENST00000303460	NM_017409.3	227	cCc/cTc	0	not done		benign	
HOXC9		inserm.fr	GRCh37	12	54396416	54396416	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1629T																					ENST00000303450.4:c.741G>T	p.Met247Ile	p.M247I	ENST00000303450	NM_006897.1	247	atG/atT	0	not done		probablydamaging	
HOXC8		inserm.fr	GRCh37	12	54403344	54403344	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1205T																					ENST00000040584.4:c.276G>T	p.Glu92Asp	p.E92D	ENST00000040584	NM_022658.3	92	gaG/gaT	0	not done		probablydamaging	
GZMA		inserm.fr	GRCh37	5	54403711	54403711	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1750T																					ENST00000274306.6:c.305C>T	p.Pro102Leu	p.P102L	ENST00000274306	NM_006144.3	102	cCc/cTc	0	not done		probablydamaging	
HOXC6		inserm.fr	GRCh37	12	54422410	54422410	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM257T																					ENST00000243108.4:c.105G>T	p.Arg35Ser	p.R35S	ENST00000243108	NM_004503.3	35	agG/agT	0	validated		probablydamaging	
OR51Q1		inserm.fr	GRCh37	11	5443668	5443668	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000300778.4:c.238C>T	p.Leu80=	p.L80=	ENST00000300778	NM_001004757.2	80	Cta/Tta	0	not done		synonymous	
HOXC4		inserm.fr	GRCh37	12	54448840	54448840	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1603T																					ENST00000430889.2:c.646C>T	p.Arg216Ter	p.R216*	ENST00000430889	NM_153633.2	216	Cga/Tga	0	not done		damaging	
CACNG8		inserm.fr	GRCh37	19	54466592	54466592	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000270458.2:c.196C>T	p.Pro66Ser	p.P66S	ENST00000270458	NM_031895.5	66	Ccc/Tcc	0	not done		benign	
TSPYL6		inserm.fr	GRCh37	2	54482997	54482997	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1743T																					ENST00000317802.7:c.292C>A	p.Leu98Ile	p.L98I	ENST00000317802	NM_001003937.2	98	Cta/Ata	0	not done		possiblydamaging	
CCNO		inserm.fr	GRCh37	5	54529192	54529192	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC912T									Valid												ENST00000282572.4:c.160G>A	p.Asp54Asn	p.D54N	ENST00000282572	NM_021147.3	54	Gac/Aac	0	validated		probablydamaging	
ANKFN1		inserm.fr	GRCh37	17	54535269	54535269	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1714T																					ENST00000318698.2:c.1495C>T	p.Pro499Ser	p.P499S	ENST00000318698	NM_153228.2	499	Cca/Tca	0	not done		benign	
DHX29		inserm.fr	GRCh37	5	54555772	54555772	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000251636.5:c.3961G>A	p.Ala1321Thr	p.A1321T	ENST00000251636	NM_019030.2	1321	Gcc/Acc	0	not done		probablydamaging	
ZNRF4		inserm.fr	GRCh37	19	5456054	5456054	+	synonymous_variant	Silent	SNP	C	T	T			CHC1754T																					ENST00000222033.4:c.552C>T	p.Ile184=	p.I184=	ENST00000222033	NM_181710.3	184	atC/atT	0	not done		synonymous	
ZNRF4		inserm.fr	GRCh37	19	5456069	5456069	+	synonymous_variant	Silent	SNP	C	T	T			CHC1207T																					ENST00000222033.4:c.567C>T	p.His189=	p.H189=	ENST00000222033	NM_181710.3	189	caC/caT	0	not done		synonymous	
CACNA2D3		inserm.fr	GRCh37	3	54604103	54604103	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1209T																					ENST00000474759.1:c.860G>T	p.Gly287Val	p.G287V	ENST00000474759	NM_018398.2	287	gGg/gTg	0	not done		probablydamaging	
CDCP2		inserm.fr	GRCh37	1	54606943	54606943	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000371330.1:c.591G>A	p.Glu197=	p.E197=	ENST00000371330	NM_201546.3	197	gaG/gaA	0	not done		synonymous	
NDUFA3		inserm.fr	GRCh37	19	54610120	54610120	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000485876.1:c.166C>T	p.Pro56Ser	p.P56S	ENST00000485876		56	Ccc/Tcc	0	not done		probablydamaging	
KIAA0947		inserm.fr	GRCh37	5	5461881	5461881	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM399T									Valid												ENST00000296564.7:c.2434G>T	p.Glu812Ter	p.E812*	ENST00000296564	NM_015325.2	812	Gaa/Taa	0	validated		damaging	
OR51I1		inserm.fr	GRCh37	11	5461935	5461935	+	synonymous_variant	Silent	SNP	A	T	T			BCB167T																					ENST00000380211.1:c.810T>A	p.Ala270=	p.A270=	ENST00000380211	NM_001005288.2	270	gcT/gcA	0	validated		synonymous	
KIAA0947		inserm.fr	GRCh37	5	5462333	5462333	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1183T																					ENST00000296564.7:c.2886A>T	p.Glu962Asp	p.E962D	ENST00000296564	NM_015325.2	962	gaA/gaT	0	not done		probablydamaging	
PRPF31		inserm.fr	GRCh37	19	54625914	54625914	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC2103T																					ENST00000321030.4:c.361A>T	p.Arg121Ter	p.R121*	ENST00000321030	NM_015629.3	121	Aga/Tga	0	not done		damaging	
NOG		inserm.fr	GRCh37	17	54671875	54671875	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000332822.4:c.291C>T	p.Gly97=	p.G97=	ENST00000332822	NM_005450.4	97	ggC/ggT	0	not done		synonymous	
NFE2		inserm.fr	GRCh37	12	54687129	54687129	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM545T																					ENST00000540264.2:c.151C>A	p.Gln51Lys	p.Q51K	ENST00000540264		51	Caa/Aaa	0	validated		benign	
MBOAT7		inserm.fr	GRCh37	19	54692294	54692294	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000245615.1:c.69G>A	p.Lys23=	p.K23=	ENST00000245615	NM_024298.3	23	aaG/aaA	0	not done		synonymous	
OR51I2		inserm.fr	GRCh37	11	5475332	5475332	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000341449.2:c.614C>T	p.Ser205Phe	p.S205F	ENST00000341449	NM_001004754.2	205	tCc/tTc	0	not done		probablydamaging	
LILRB5		inserm.fr	GRCh37	19	54760582	54760582	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000449561.2:c.125G>A	p.Gly42Glu	p.G42E	ENST00000449561		42	gGg/gAg	0	not done		probablydamaging	
ZNF385A		inserm.fr	GRCh37	12	54767918	54767918	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000338010.5:c.260G>A	p.Ser87Asn	p.S87N	ENST00000338010	NM_001130967.1	87	aGc/aAc	0	not done		probablydamaging	
RGS20		inserm.fr	GRCh37	8	54793619	54793619	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000297313.3:c.510+1457C>T		*170*	ENST00000297313	NM_170587.2			0	not done			
ITGA5		inserm.fr	GRCh37	12	54801962	54801962	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC796T									Valid												ENST00000293379.4:c.749T>A	p.Leu250Gln	p.L250Q	ENST00000293379	NM_002205.2	250	cTg/cAg	0	validated		possiblydamaging	
FAM83B		inserm.fr	GRCh37	6	54805319	54805319	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000306858.7:c.1550G>T	p.Gly517Val	p.G517V	ENST00000306858	NM_001010872.2	517	gGt/gTt	0	not done		possiblydamaging	
LILRA5		inserm.fr	GRCh37	19	54823183	54823183	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T									Valid												ENST00000301219.3:c.360C>A	p.Ser120Arg	p.S120R	ENST00000301219	NM_021250.2	120	agC/agA	0	validated		probablydamaging	
LILRA5		inserm.fr	GRCh37	19	54823314	54823314	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB151T									Valid												ENST00000301219.3:c.229C>A	p.Arg77Ser	p.R77S	ENST00000301219	NM_021250.2	77	Cgt/Agt	0	validated		possiblydamaging	
MC3R		inserm.fr	GRCh37	20	54824564	54824564	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1207T																					ENST00000243911.2:c.665C>T	p.Ala222Val	p.A222V	ENST00000243911	NM_019888.3	222	gCa/gTa	0	not done		probablydamaging	
SPTBN1		inserm.fr	GRCh37	2	54845317	54845317	+	synonymous_variant	Silent	SNP	G	T	T			CHC2098T																					ENST00000356805.4:c.750G>T	p.Leu250=	p.L250=	ENST00000356805	NM_003128.2	250	ctG/ctT	0	not done		synonymous	
UNC13C		inserm.fr	GRCh37	15	54847700	54847700	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000260323.11:c.5948C>T	p.Ala1983Val	p.A1983V	ENST00000260323	NM_001080534.1	1983	gCt/gTt	0	not done		benign	
NLRP1		inserm.fr	GRCh37	17	5487107	5487107	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000572272.1:c.171G>A	p.Leu57=	p.L57=	ENST00000572272		57	ctG/ctA	0	not done		synonymous	
LAIR1		inserm.fr	GRCh37	19	54875921	54875921	+	synonymous_variant	Silent	SNP	C	T	T			CHC1568T																					ENST00000391742.2:c.51G>A	p.Gln17=	p.Q17=	ENST00000391742		17	caG/caA	0	not done		synonymous	
LAIR1		inserm.fr	GRCh37	19	54876394	54876394	+	synonymous_variant	Silent	SNP	G	T	T			CHC891T																					ENST00000391742.2:c.18C>A	p.Thr6=	p.T6=	ENST00000391742		6	acC/acA	0	not done		synonymous	
NCKAP1L		inserm.fr	GRCh37	12	54925357	54925357	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1602T																					ENST00000293373.6:c.2687C>T	p.Pro896Leu	p.P896L	ENST00000293373	NM_005337.4	896	cCc/cTc	0	not done		probablydamaging	
TTYH1		inserm.fr	GRCh37	19	54930429	54930429	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000376531.3:c.254C>T	p.Pro85Leu	p.P85L	ENST00000376531	NM_001005367.2	85	cCc/cTc	0	validated		possiblydamaging	
TRO		inserm.fr	GRCh37	X	54949031	54949031	+	synonymous_variant	Silent	SNP	G	T	T			CHC1624T																					ENST00000173898.7:c.66G>T	p.Gly22=	p.G22=	ENST00000173898	NM_001039705.2	22	ggG/ggT	0	validated		synonymous	
TRO		inserm.fr	GRCh37	X	54956215	54956215	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC313T									Valid												ENST00000173898.7:c.3058G>T	p.Gly1020Cys	p.G1020C	ENST00000173898	NM_001039705.2	1020	Ggc/Tgc	0	validated		probablydamaging	
TRO		inserm.fr	GRCh37	X	54956361	54956361	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000173898.7:c.3204C>T	p.Ser1068=	p.S1068=	ENST00000173898	NM_001039705.2	1068	agC/agT	0	not done		synonymous	
LENG8		inserm.fr	GRCh37	19	54967294	54967294	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC2200T																					ENST00000326764.5:c.1174C>T	p.Arg392Ter	p.R392*	ENST00000326764	NM_052925.2	392	Cga/Tga	0	not done		damaging	
PDE1B		inserm.fr	GRCh37	12	54968893	54968893	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000243052.3:c.1076C>T	p.Pro359Leu	p.P359L	ENST00000243052	NM_000924.3	359	cCc/cTc	0	not done		benign	
LENG9		inserm.fr	GRCh37	19	54973806	54973806	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC917T																					ENST00000333834.4:c.970G>A	p.Val324Met	p.V324M	ENST00000333834	NM_198988.1	324	Gtg/Atg	0	validated		probablydamaging	
TRIM25		inserm.fr	GRCh37	17	54981796	54981796	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000316881.4:c.747G>A	p.Lys249=	p.K249=	ENST00000316881	NM_005082.4	249	aaG/aaA	0	not done		synonymous	
HCRTR2		inserm.fr	GRCh37	6	55039391	55039391	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000370862.3:c.6C>T	p.Ser2=	p.S2=	ENST00000370862	NM_001526.3	2	tcC/tcT	0	not done		synonymous	
ACOT11		inserm.fr	GRCh37	1	55051520	55051520	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371316.3:c.254C>T	p.Ala85Val	p.A85V	ENST00000371316	NM_015547.3	85	gCt/gTt	0	not done		probablydamaging	
SCPEP1		inserm.fr	GRCh37	17	55065091	55065091	+	synonymous_variant	Silent	SNP	C	T	T			BCM375T																					ENST00000262288.3:c.351C>T	p.Pro117=	p.P117=	ENST00000262288	NM_021626.2	117	ccC/ccT	0	validated		synonymous	
EGFR		inserm.fr	GRCh37	7	55087037	55087037	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1774T																					ENST00000275493.2:c.67C>T	p.Arg23Trp	p.R23W	ENST00000275493	NM_005228.3	23	Cgg/Tgg	0	validated		benign	
LILRA2		inserm.fr	GRCh37	19	55098512	55098512	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1749T																					ENST00000251377.3:c.1291A>T	p.Thr431Ser	p.T431S	ENST00000251377		431	Aca/Tca	0	validated		benign	
ONECUT2		inserm.fr	GRCh37	18	55103014	55103014	+	synonymous_variant	Silent	SNP	G	T	T			CHC1041T																					ENST00000491143.2:c.66G>T	p.Pro22=	p.P22=	ENST00000491143	NM_004852.2	22	ccG/ccT	0	validated		synonymous	
LILRA1		inserm.fr	GRCh37	19	55110715	55110715	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000251372.3:c.1276C>T	p.Leu426Phe	p.L426F	ENST00000251372	NM_006863.3	426	Ctc/Ttc	0	not done		benign	
OR4A15		inserm.fr	GRCh37	11	55135924	55135924	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM695T																					ENST00000314706.3:c.565C>T	p.Leu189Phe	p.L189F	ENST00000314706	NM_001005275.1	189	Ctc/Ttc	0	validated		benign	
OR4A15		inserm.fr	GRCh37	11	55135977	55135977	+	synonymous_variant	Silent	SNP	G	T	T			CHC889T																					ENST00000314706.3:c.618G>T	p.Leu206=	p.L206=	ENST00000314706	NM_001005275.1	206	ctG/ctT	0	not done		synonymous	
LILRB1		inserm.fr	GRCh37	19	55143425	55143425	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000324602.7:c.398C>T	p.Pro133Leu	p.P133L	ENST00000324602	NM_001278399.1	133	cCc/cTc	0	not done		possiblydamaging	
MROH7		inserm.fr	GRCh37	1	55144488	55144488	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	T	T			CHC1137T																					ENST00000414150.2:c.2010C>T	p.Asn670=	p.N670=	ENST00000414150		670	aaC/aaT	0	not done		synonymous	
EML6		inserm.fr	GRCh37	2	55185081	55185081	+	synonymous_variant	Silent	SNP	C	T	T			CHC1601T																					ENST00000356458.6:c.4641C>T	p.Ile1547=	p.I1547=	ENST00000356458	NM_001039753.2	1547	atC/atT	0	not done		synonymous	
EML6		inserm.fr	GRCh37	2	55186301	55186301	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1604T																					ENST00000356458.6:c.4756C>T	p.Leu1586Phe	p.L1586F	ENST00000356458	NM_001039753.2	1586	Ctc/Ttc	0	not done		probablydamaging	
GFRAL		inserm.fr	GRCh37	6	55196573	55196573	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC794T																					ENST00000340465.2:c.83G>T	p.Arg28Ile	p.R28I	ENST00000340465	NM_207410.2	28	aGa/aTa	0	validated		benign	
TFAP2C		inserm.fr	GRCh37	20	55206443	55206443	+	synonymous_variant	Silent	SNP	G	T	T			CHC1053T																					ENST00000201031.2:c.231G>T	p.Ser77=	p.S77=	ENST00000201031	NM_003222.3	77	tcG/tcT	0	validated		synonymous	
RTN4		inserm.fr	GRCh37	2	55209698	55209698	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM423T																					ENST00000337526.6:c.3313G>A	p.Glu1105Lys	p.E1105K	ENST00000337526	NM_020532.4	1105	Gaa/Aaa	0	validated		probablydamaging	
TFAP2C		inserm.fr	GRCh37	20	55211703	55211703	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000201031.2:c.960C>T	p.Val320=	p.V320=	ENST00000201031	NM_003222.3	320	gtC/gtT	0	not done		synonymous	
TFAP2C		inserm.fr	GRCh37	20	55211808	55211808	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000201031.2:c.1065C>T	p.Ala355=	p.A355=	ENST00000201031	NM_003222.3	355	gcC/gcT	0	not done		synonymous	
TFAP2C		inserm.fr	GRCh37	20	55212927	55212927	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000201031.2:c.1211C>T	p.Ala404Val	p.A404V	ENST00000201031	NM_003222.3	404	gCc/gTc	0	not done		probablydamaging	
KIR3DL3		inserm.fr	GRCh37	19	55241232	55241232	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1568T																					ENST00000291860.1:c.929C>T	p.Pro310Leu	p.P310L	ENST00000291860	NM_153443.3	310	cCa/cTa	0	not done		probablydamaging	
PAGE5		inserm.fr	GRCh37	X	55249087	55249087	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000289619.5:c.284C>T	p.Ala95Val	p.A95V	ENST00000289619	NM_130467.3	95	gCt/gTt	0	not done		probablydamaging	
IL6ST		inserm.fr	GRCh37	5	55256281	55256281	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000381298.2:c.922G>A	p.Gly308Arg	p.G308R	ENST00000381298	NM_175767.2	308	Gga/Aga	0	not done		probablydamaging	
KIR2DL3		inserm.fr	GRCh37	19	55258807	55258807	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000342376.3:c.685C>T	p.Pro229Ser	p.P229S	ENST00000342376	NM_015868.2	229	Cct/Tct	0	not done		probablydamaging	
C1orf177		inserm.fr	GRCh37	1	55279497	55279497	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371273.3:c.773C>T	p.Pro258Leu	p.P258L	ENST00000371273	NM_001110533.1	258	cCc/cTc	0	not done		possiblydamaging	
UBQLN3		inserm.fr	GRCh37	11	5528962	5528962	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000311659.4:c.1827G>A	p.Gln609=	p.Q609=	ENST00000311659	NM_017481.2	609	caG/caA	0	not done		synonymous	
UBQLN3		inserm.fr	GRCh37	11	5530045	5530045	+	synonymous_variant	Silent	SNP	A	T	T			CHC1629T																					ENST00000311659.4:c.744T>A	p.Pro248=	p.P248=	ENST00000311659	NM_017481.2	248	ccT/ccA	0	not done		synonymous	
OR4C15		inserm.fr	GRCh37	11	55322315	55322315	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000314644.2:c.533C>T	p.Ala178Val	p.A178V	ENST00000314644	NM_001001920.1	178	gCc/gTc	0	not done		probablydamaging	
KIR2DL4		inserm.fr	GRCh37	19	55325385	55325385	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2029T																					ENST00000345540.5:c.848A>T	p.Gln283Leu	p.Q283L	ENST00000345540	NM_001080770.1	283	cAg/cTg	0	not done		possiblydamaging	
KIR3DL1		inserm.fr	GRCh37	19	55331446	55331446	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1534T																					ENST00000391728.4:c.634C>T	p.Pro212Ser	p.P212S	ENST00000391728	NM_013289.2	212	Ccc/Tcc	0	validated		probablydamaging	
OR4C16		inserm.fr	GRCh37	11	55339765	55339765	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2052T																					ENST00000314634.3:c.162G>T	p.Lys54Asn	p.K54N	ENST00000314634	NM_001004701.2	54	aaG/aaT	0	not done		benign	
OR4C16		inserm.fr	GRCh37	11	55340107	55340107	+	synonymous_variant	Silent	SNP	C	T	T			CHC1754T																					ENST00000314634.3:c.504C>T	p.Gly168=	p.G168=	ENST00000314634	NM_001004701.2	168	ggC/ggT	0	not done		synonymous	
KIR3DL1		inserm.fr	GRCh37	19	55341561	55341561	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2048T																					ENST00000391728.4:c.1166A>T	p.Asp389Val	p.D389V	ENST00000391728	NM_013289.2	389	gAt/gTt	0	not done		probablydamaging	
KIR2DS4		inserm.fr	GRCh37	19	55344234	55344234	+	synonymous_variant	Silent	SNP	C	T	T			CHC1746T																					ENST00000339924.8:c.15C>T	p.Val5=	p.V5=	ENST00000339924	NM_001281971.1	5	gtC/gtT	0	not done		synonymous	
TESPA1		inserm.fr	GRCh37	12	55357669	55357669	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000449076.1:c.512G>A	p.Gly171Asp	p.G171D	ENST00000449076	NM_001136030.2	171	gGc/gAc	0	not done		possiblydamaging	
HMGCLL1		inserm.fr	GRCh37	6	55360226	55360226	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000398661.2:c.876G>A	p.Thr292=	p.T292=	ENST00000398661	NM_019036.2	292	acG/acA	0	not done		synonymous	
IRX6		inserm.fr	GRCh37	16	55360402	55360402	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000290552.7:c.200C>T	p.Ala67Val	p.A67V	ENST00000290552	NM_024335.2	67	gCc/gTc	0	not done		probablydamaging	
IRX6		inserm.fr	GRCh37	16	55362734	55362734	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000290552.7:c.844C>T	p.Leu282=	p.L282=	ENST00000290552	NM_024335.2	282	Ctg/Ttg	0	not done		synonymous	
SOX17		inserm.fr	GRCh37	8	55371883	55371883	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000297316.4:c.573C>T	p.Gly191=	p.G191=	ENST00000297316	NM_022454.3	191	ggC/ggT	0	not done		synonymous	
OR4P4		inserm.fr	GRCh37	11	55405962	55405962	+	synonymous_variant	Silent	SNP	A	T	T			CHC1186T																					ENST00000314612.2:c.129A>T	p.Ile43=	p.I43=	ENST00000314612	NM_001004124.1	43	atA/atT	0	not done		synonymous	
FBXL18		inserm.fr	GRCh37	7	5541541	5541541	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2211T																					ENST00000382368.3:c.359G>A	p.Ser120Asn	p.S120N	ENST00000382368	NM_024963.4	120	aGc/aAc	0	not done		benign	
OR4S2		inserm.fr	GRCh37	11	55418449	55418449	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2115T																					ENST00000312422.2:c.70G>T	p.Val24Phe	p.V24F	ENST00000312422	NM_001004059.2	24	Gtt/Ttt	0	not done		possiblydamaging	
OR4S2		inserm.fr	GRCh37	11	55419301	55419301	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1186T																					ENST00000312422.2:c.922G>T	p.Ala308Ser	p.A308S	ENST00000312422	NM_001004059.2	308	Gct/Tct	0	not done		benign	
NCR1		inserm.fr	GRCh37	19	55424093	55424093	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000291890.4:c.769C>T	p.Leu257Phe	p.L257F	ENST00000291890	NM_004829.6	257	Ctt/Ttt	0	not done		benign	
NLRP7		inserm.fr	GRCh37	19	55447696	55447696	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC320T									Valid												ENST00000588756.1:c.2233G>A	p.Glu745Lys	p.E745K	ENST00000588756		745	Gaa/Aaa	0	validated		possiblydamaging	
NLRP7		inserm.fr	GRCh37	19	55449483	55449483	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM531T																					ENST00000588756.1:c.2058C>A	p.Phe686Leu	p.F686L	ENST00000588756		686	ttC/ttA	0	validated		probablydamaging	
NLRP7		inserm.fr	GRCh37	19	55451281	55451281	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000588756.1:c.906G>A	p.Arg302=	p.R302=	ENST00000588756		302	cgG/cgA	0	not done		synonymous	
WDHD1		inserm.fr	GRCh37	14	55451563	55451563	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000360586.3:c.1784G>A	p.Gly595Glu	p.G595E	ENST00000360586	NM_007086.3	595	gGg/gAg	0	not done		probablydamaging	
NLRP7		inserm.fr	GRCh37	19	55451639	55451639	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000588756.1:c.548G>A	p.Gly183Glu	p.G183E	ENST00000588756		183	gGg/gAg	0	not done		probablydamaging	
TMEM61		inserm.fr	GRCh37	1	55452018	55452018	+	synonymous_variant	Silent	SNP	C	T	T			CHC703T																					ENST00000371268.3:c.264C>T	p.Ser88=	p.S88=	ENST00000371268	NM_182532.1	88	tcC/tcT	0	not done		synonymous	
BSND		inserm.fr	GRCh37	1	55474285	55474285	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371265.4:c.947C>T	p.Pro316Leu	p.P316L	ENST00000371265	NM_057176.2	316	cCt/cTt	0	not done		probablydamaging	
MTIF2		inserm.fr	GRCh37	2	55476569	55476569	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000394600.3:c.943G>A	p.Gly315Arg	p.G315R	ENST00000394600	NM_001005369.1	315	Gga/Aga	0	not done		probablydamaging	
NLRP2		inserm.fr	GRCh37	19	55494792	55494792	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2098T																					ENST00000543010.1:c.1726C>T	p.Arg576Trp	p.R576W	ENST00000543010	NM_001174081.1	576	Cgg/Tgg	0	not done		probablydamaging	
NLRP2		inserm.fr	GRCh37	19	55495055	55495055	+	synonymous_variant	Silent	SNP	G	T	T			CHC322T																					ENST00000543010.1:c.1989G>T	p.Pro663=	p.P663=	ENST00000543010	NM_001174081.1	663	ccG/ccT	0	validated		synonymous	
SOCS4		inserm.fr	GRCh37	14	55510646	55510646	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000395472.2:c.887C>T	p.Ala296Val	p.A296V	ENST00000395472	NM_080867.2	296	gCc/gTc	0	not done		possiblydamaging	
SOCS4		inserm.fr	GRCh37	14	55510772	55510772	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1209T																					ENST00000395472.2:c.1013G>T	p.Trp338Leu	p.W338L	ENST00000395472	NM_080867.2	338	tGg/tTg	0	not done		probablydamaging	
MMP2		inserm.fr	GRCh37	16	55513449	55513449	+	synonymous_variant	Silent	SNP	C	T	T			CHC469T																					ENST00000219070.4:c.58C>T	p.Leu20=	p.L20=	ENST00000219070	NM_004530.4	20	Ctg/Ttg	0	validated		synonymous	
MMP2		inserm.fr	GRCh37	16	55513466	55513466	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000219070.4:c.75C>T	p.Ser25=	p.S25=	ENST00000219070	NM_004530.4	25	agC/agT	0	validated		synonymous	
USP51		inserm.fr	GRCh37	X	55514045	55514045	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1531T																					ENST00000500968.3:c.1328C>A	p.Ala443Glu	p.A443E	ENST00000500968	NM_201286.3	443	gCa/gAa	0	not done		probablydamaging	
MMP2		inserm.fr	GRCh37	16	55522491	55522491	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC205T									Valid												ENST00000219070.4:c.869C>T	p.Pro290Leu	p.P290L	ENST00000219070	NM_004530.4	290	cCc/cTc	0	validated		probablydamaging	
MMP2		inserm.fr	GRCh37	16	55522502	55522502	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1602T																					ENST00000219070.4:c.880C>T	p.Pro294Ser	p.P294S	ENST00000219070	NM_004530.4	294	Cca/Tca	0	not done		probablydamaging	
GP6		inserm.fr	GRCh37	19	55525507	55525507	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000310373.3:c.1806G>A	p.Thr602=	p.T602=	ENST00000310373	NM_001083899.1	602	acG/acA	0	validated		synonymous	
GP6		inserm.fr	GRCh37	19	55526195	55526195	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000310373.3:c.1118G>A	p.Gly373Glu	p.G373E	ENST00000310373	NM_001083899.1	373	gGg/gAg	0	not done		probablydamaging	
PCSK9		inserm.fr	GRCh37	1	55527095	55527095	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000302118.5:c.1729C>T	p.Pro577Ser	p.P577S	ENST00000302118	NM_174936.3	577	Cct/Tct	0	not done		benign	
RP1		inserm.fr	GRCh37	8	55537492	55537492	+	synonymous_variant	Silent	SNP	A	T	T			CHC884T																					ENST00000220676.1:c.1050A>T	p.Thr350=	p.T350=	ENST00000220676	NM_006269.1	350	acA/acT	0	validated		synonymous	
RP1		inserm.fr	GRCh37	8	55540812	55540812	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1720T																					ENST00000220676.1:c.4370C>T	p.Ser1457Leu	p.S1457L	ENST00000220676	NM_006269.1	1457	tCa/tTa	0	not done		probablydamaging	
OR5D13		inserm.fr	GRCh37	11	55540948	55540948	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361760.1:c.35C>T	p.Pro12Leu	p.P12L	ENST00000361760	NM_001001967.1	12	cCc/cTc	0	not done		benign	
RP1		inserm.fr	GRCh37	8	55541607	55541607	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1602T																					ENST00000220676.1:c.5165G>T	p.Gly1722Val	p.G1722V	ENST00000220676	NM_006269.1	1722	gGt/gTt	0	not done		benign	
RP1		inserm.fr	GRCh37	8	55542676	55542676	+	synonymous_variant	Silent	SNP	C	T	T			CHC798T																					ENST00000220676.1:c.6234C>T	p.Gly2078=	p.G2078=	ENST00000220676	NM_006269.1	2078	ggC/ggT	0	validated		synonymous	
RDH13		inserm.fr	GRCh37	19	55559739	55559739	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1531T																					ENST00000415061.3:c.616G>A	p.Ala206Thr	p.A206T	ENST00000415061	NM_001145971.1	206	Gcc/Acc	0	not done		probablydamaging	
OR5L1		inserm.fr	GRCh37	11	55579487	55579487	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC155T									Valid												ENST00000333973.2:c.545C>T	p.Pro182Leu	p.P182L	ENST00000333973	NM_001004738.1	182	cCt/cTt	0	validated		probablydamaging	
OR5L1		inserm.fr	GRCh37	11	55579611	55579611	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000333973.2:c.669C>T	p.Thr223=	p.T223=	ENST00000333973	NM_001004738.1	223	acC/acT	0	not done		synonymous	
PCDH15		inserm.fr	GRCh37	10	55582975	55582975	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC889T																					ENST00000361849.3:c.4517G>A	p.Ser1506Asn	p.S1506N	ENST00000361849	NM_001142768.1	1506	aGc/aAc	0	not done		benign	
OR5D18		inserm.fr	GRCh37	11	55587755	55587755	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1148T																					ENST00000333976.4:c.650C>T	p.Thr217Ile	p.T217I	ENST00000333976	NM_001001952.1	217	aCa/aTa	0	not done		benign	
PCDH15		inserm.fr	GRCh37	10	55591098	55591098	+	synonymous_variant	Silent	SNP	C	T	T			BCM545T																					ENST00000361849.3:c.4179G>A	p.Leu1393=	p.L1393=	ENST00000361849	NM_001142768.1	1393	ttG/ttA	0	validated		synonymous	
RP1		inserm.fr	GRCh37	8	55592381	55592381	+	intron_variant,non_coding_transcript_variant	Intron	SNP	G	T	T			CHC1594T																					ENST00000521465.1:n.570+5899G>T		*190*	ENST00000521465				0	not done			
KIT		inserm.fr	GRCh37	4	55594192	55594192	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000288135.5:c.1895C>T	p.Thr632Ile	p.T632I	ENST00000288135	NM_000222.2	632	aCa/aTa	0	not done		probablydamaging	
EPS8L1		inserm.fr	GRCh37	19	55597467	55597467	+	synonymous_variant	Silent	SNP	C	T	T			CHC2099T																					ENST00000201647.6:c.1557C>T	p.Asp519=	p.D519=	ENST00000201647	NM_133180.2	519	gaC/gaT	0	not done		synonymous	
LGALS3		inserm.fr	GRCh37	14	55607024	55607024	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1749T																					ENST00000254301.9:c.374G>T	p.Gly125Val	p.G125V	ENST00000254301	NM_002306.3	125	gGa/gTa	0	not done		probablydamaging	
LPCAT2		inserm.fr	GRCh37	16	55608546	55608546	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000262134.5:c.1219C>T	p.His407Tyr	p.H407Y	ENST00000262134	NM_017839.4	407	Cat/Tat	0	not done		possiblydamaging	
LPCAT2		inserm.fr	GRCh37	16	55613134	55613134	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000262134.5:c.1428C>T	p.Ala476=	p.A476=	ENST00000262134	NM_017839.4	476	gcC/gcT	0	not done		synonymous	
TNNT1		inserm.fr	GRCh37	19	55645524	55645524	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000588981.1:c.660G>A	p.Arg220=	p.R220=	ENST00000588981	NM_003283.4	220	agG/agA	0	not done		damaging	
TNNT1		inserm.fr	GRCh37	19	55649343	55649343	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000588981.1:c.487G>A	p.Gly163Ser	p.G163S	ENST00000588981	NM_003283.4	163	Ggc/Agc	0	not done		probablydamaging	
CCPG1		inserm.fr	GRCh37	15	55652936	55652936	+	synonymous_variant	Silent	SNP	A	T	T			CHC1594T																					ENST00000442196.3:c.1035T>A	p.Thr345=	p.T345=	ENST00000442196		345	acT/acA	0	not done		synonymous	
OR52H1		inserm.fr	GRCh37	11	5566538	5566538	+	synonymous_variant	Silent	SNP	G	T	T			BCB109T																					ENST00000322653.4:c.216C>A	p.Ser72=	p.S72=	ENST00000322653	NM_001005289.1	72	tcC/tcA	0	validated		synonymous	
DNAAF3		inserm.fr	GRCh37	19	55672063	55672063	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000527223.2:c.1197G>A	p.Gly399=	p.G399=	ENST00000527223	NM_001256714.1	399	ggG/ggA	0	not done		synonymous	
OR6C6		inserm.fr	GRCh37	12	55688347	55688347	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T																					ENST00000358433.2:c.670C>A	p.Leu224Met	p.L224M	ENST00000358433	NM_001005493.1	224	Ctg/Atg	0	validated		benign	
PTPRH		inserm.fr	GRCh37	19	55715226	55715226	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000376350.3:c.810G>A	p.Gly270=	p.G270=	ENST00000376350	NM_002842.3	270	ggG/ggA	0	not done		synonymous	
OR6C3		inserm.fr	GRCh37	12	55725518	55725518	+	synonymous_variant	Silent	SNP	C	T	T			CHC097T																					ENST00000379667.1:c.34C>T	p.Leu12=	p.L12=	ENST00000379667	NM_054104.1	12	Ctg/Ttg	0	not done		synonymous	
OR6C3		inserm.fr	GRCh37	12	55725622	55725622	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000379667.1:c.138C>T	p.Thr46=	p.T46=	ENST00000379667	NM_054104.1	46	acC/acT	0	not done		synonymous	
SLC6A2		inserm.fr	GRCh37	16	55730181	55730181	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000219833.8:c.1192C>T	p.Leu398=	p.L398=	ENST00000219833	NM_001172504.1	398	Ctg/Ttg	0	not done		synonymous	
SLC6A2		inserm.fr	GRCh37	16	55731873	55731873	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB307T									Valid												ENST00000219833.8:c.1325G>T	p.Arg442Leu	p.R442L	ENST00000219833	NM_001172504.1	442	cGg/cTg	0	validated		probablydamaging	
OR10AG1		inserm.fr	GRCh37	11	55735574	55735574	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000312345.2:c.366G>A	p.Gln122=	p.Q122=	ENST00000312345	NM_001005491.1	122	caG/caA	0	not done		synonymous	
BMP5		inserm.fr	GRCh37	6	55739516	55739516	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370830.3:c.148G>A	p.Glu50Lys	p.E50K	ENST00000370830	NM_021073.2	50	Gaa/Aaa	0	not done		probablydamaging	
BMP7		inserm.fr	GRCh37	20	55750049	55750049	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM543T																					ENST00000395863.3:c.973G>A	p.Asp325Asn	p.D325N	ENST00000395863	NM_001719.2	325	Gac/Aac	0	validated		benign	
PPP6R1		inserm.fr	GRCh37	19	55752370	55752370	+	synonymous_variant	Silent	SNP	C	T	T			CHC451T																					ENST00000412770.2:c.1239G>A	p.Leu413=	p.L413=	ENST00000412770	NM_014931.3	413	ttG/ttA	0	not done		synonymous	
CCDC104		inserm.fr	GRCh37	2	55771377	55771377	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC433T									Valid												ENST00000349456.4:c.799G>T	p.Glu267Ter	p.E267*	ENST00000349456		267	Gaa/Taa	0	validated		damaging	
PCDH15		inserm.fr	GRCh37	10	55780005	55780005	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC923T																					ENST00000361849.3:c.2698G>A	p.Asp900Asn	p.D900N	ENST00000361849	NM_001142768.1	900	Gat/Aat	0	not done		probablydamaging	
HSPBP1		inserm.fr	GRCh37	19	55789210	55789210	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2208T																					ENST00000255631.5:c.215G>A	p.Arg72His	p.R72H	ENST00000255631	NM_012267.4	72	cGt/cAt	0	not done		probablydamaging	
OR5AS1		inserm.fr	GRCh37	11	55798330	55798330	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM695T																					ENST00000313555.1:c.436G>T	p.Val146Leu	p.V146L	ENST00000313555	NM_001001921.1	146	Gtg/Ttg	0	validated		benign	
BRSK1		inserm.fr	GRCh37	19	55814092	55814092	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000309383.1:c.885C>T	p.Cys295=	p.C295=	ENST00000309383	NM_032430.1	295	tgC/tgT	0	not done		synonymous	
BRSK1		inserm.fr	GRCh37	19	55815923	55815923	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC433T																					ENST00000309383.1:c.1352C>T	p.Pro451Leu	p.P451L	ENST00000309383	NM_032430.1	451	cCg/cTg	0	validated		possiblydamaging	
TMEM150B		inserm.fr	GRCh37	19	55828257	55828257	+	synonymous_variant	Silent	SNP	C	T	T			CHC059T																					ENST00000326652.4:c.402G>A	p.Gln134=	p.Q134=	ENST00000326652	NM_001282011.1	134	caG/caA	0	validated		synonymous	
OR6C2		inserm.fr	GRCh37	12	55846720	55846720	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000322678.1:c.723C>T	p.Ser241=	p.S241=	ENST00000322678	NM_054105.1	241	tcC/tcT	0	not done		synonymous	
OR6C2		inserm.fr	GRCh37	12	55846926	55846926	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM545T																					ENST00000322678.1:c.929C>T	p.Ser310Leu	p.S310L	ENST00000322678	NM_054105.1	310	tCa/tTa	0	validated		benign	
OR8I2		inserm.fr	GRCh37	11	55860977	55860977	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1629T																					ENST00000302124.2:c.194A>T	p.Asn65Ile	p.N65I	ENST00000302124	NM_001003750.1	65	aAt/aTt	0	not done		possiblydamaging	
EVC2		inserm.fr	GRCh37	4	5586456	5586456	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2215T																					ENST00000344408.5:c.2951C>A	p.Ala984Asp	p.A984D	ENST00000344408	NM_147127.4	984	gCc/gAc	0	not done		probablydamaging	
GARIN5B		inserm.fr	GRCh37	19	55870151	55870151	+	synonymous_variant	Silent	SNP	C	T	T			CHC1191T																					ENST00000424985.3:c.2085G>A	p.Ala695=	p.A695=	ENST00000424985	NM_001145402.1	695	gcG/gcA	0	not done		synonymous	
SAFB2		inserm.fr	GRCh37	19	5587736	5587736	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1746T																					ENST00000252542.4:c.2681T>A	p.Met894Lys	p.M894K	ENST00000252542	NM_014649.2	894	aTg/aAg	0	not done		benign	
RPL28		inserm.fr	GRCh37	19	55903041	55903041	+	synonymous_variant	Silent	SNP	C	T	T			CHC1725T																					ENST00000558815.1:c.444C>T	p.Pro148=	p.P148=	ENST00000558815	NM_001136135.1	148	ccC/ccT	0	not done		synonymous	
OR8J3		inserm.fr	GRCh37	11	55904780	55904780	+	synonymous_variant	Silent	SNP	G	T	T			BCM339T																					ENST00000301529.1:c.415C>A	p.Arg139=	p.R139=	ENST00000301529	NM_001004064.1	139	Cgg/Agg	0	validated		synonymous	
OR8J3		inserm.fr	GRCh37	11	55904942	55904942	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2216T																					ENST00000301529.1:c.253T>A	p.Phe85Ile	p.F85I	ENST00000301529	NM_001004064.1	85	Ttt/Att	0	not done		benign	
PNPT1		inserm.fr	GRCh37	2	55906921	55906921	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000447944.2:c.575G>A	p.Arg192Gln	p.R192Q	ENST00000447944	NM_033109.4	192	cGa/cAa	0	validated		probablydamaging	
CES5A		inserm.fr	GRCh37	16	55907907	55907907	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC794T									Valid												ENST00000521992.1:c.203G>A	p.Trp68Ter	p.W68*	ENST00000521992	NM_001190158.1	68	tGg/tAg	0	validated		damaging	
PNPT1		inserm.fr	GRCh37	2	55910940	55910940	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC451T																					ENST00000447944.2:c.433G>A	p.Gly145Ser	p.G145S	ENST00000447944	NM_033109.4	145	Ggc/Agc	0	validated		possiblydamaging	
COL21A1		inserm.fr	GRCh37	6	55924021	55924021	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000244728.5:c.2628G>A	p.Gly876=	p.G876=	ENST00000244728	NM_030820.3	876	ggG/ggA	0	not done		synonymous	
OR8K5		inserm.fr	GRCh37	11	55927197	55927197	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1191T																					ENST00000313447.1:c.597C>A	p.Ser199Arg	p.S199R	ENST00000313447	NM_001004058.2	199	agC/agA	0	not done		benign	
OR8K5		inserm.fr	GRCh37	11	55927667	55927667	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM375T									Valid												ENST00000313447.1:c.127C>A	p.Leu43Ile	p.L43I	ENST00000313447	NM_001004058.2	43	Cta/Ata	0	validated		probablydamaging	
SAFB2		inserm.fr	GRCh37	19	5594060	5594060	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000252542.4:c.2049G>A	p.Glu683=	p.E683=	ENST00000252542	NM_014649.2	683	gaG/gaA	0	not done		synonymous	
OR5J2		inserm.fr	GRCh37	11	55944610	55944610	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC258T																					ENST00000312298.1:c.517G>T	p.Ala173Ser	p.A173S	ENST00000312298	NM_001005492.1	173	Gct/Tct	0	validated		benign	
OR5J2		inserm.fr	GRCh37	11	55944611	55944611	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000312298.1:c.518C>T	p.Ala173Val	p.A173V	ENST00000312298	NM_001005492.1	173	gCt/gTt	0	not done		benign	
OR5J2		inserm.fr	GRCh37	11	55944767	55944767	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC197T																					ENST00000312298.1:c.674G>T	p.Ser225Ile	p.S225I	ENST00000312298	NM_001005492.1	225	aGc/aTc	0	validated		benign	
OR5J2		inserm.fr	GRCh37	11	55944817	55944817	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000312298.1:c.724G>T	p.Ala242Ser	p.A242S	ENST00000312298	NM_001005492.1	242	Gcc/Tcc	0	not done		possiblydamaging	
PCDH15		inserm.fr	GRCh37	10	55944952	55944952	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361849.3:c.1382G>A	p.Arg461His	p.R461H	ENST00000361849	NM_001142768.1	461	cGc/cAc	0	not done		probablydamaging	
OR6C4		inserm.fr	GRCh37	12	55945113	55945113	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000394256.2:c.103C>T	p.Leu35=	p.L35=	ENST00000394256	NM_001005494.1	35	Cta/Tta	0	not done		synonymous	
KDR		inserm.fr	GRCh37	4	55946166	55946166	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000263923.4:c.4013G>A	p.Ser1338Asn	p.S1338N	ENST00000263923	NM_002253.2	1338	aGc/aAc	0	not done		benign	
PCDH15		inserm.fr	GRCh37	10	55973788	55973788	+	synonymous_variant	Silent	SNP	G	T	T			CHC1602T																					ENST00000361849.3:c.1006C>A	p.Arg336=	p.R336=	ENST00000361849	NM_001142768.1	336	Cga/Aga	0	not done		synonymous	
PRTG		inserm.fr	GRCh37	15	55976012	55976012	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000389286.4:c.515G>A	p.Arg172Gln	p.R172Q	ENST00000389286	NM_173814.4	172	cGg/cAg	0	validated		probablydamaging	
COL21A1		inserm.fr	GRCh37	6	55990907	55990907	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM759T																					ENST00000244728.5:c.1583T>A	p.Met528Lys	p.M528K	ENST00000244728	NM_030820.3	528	aTg/aAg	0	validated		probablydamaging	
ZNF628		inserm.fr	GRCh37	19	55994221	55994221	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000598519.1:c.1661G>T	p.Arg554Leu	p.R554L	ENST00000598519	NM_033113.2	554	cGt/cTt	0	not done		benign	
NAT14		inserm.fr	GRCh37	19	55997906	55997906	+	synonymous_variant	Silent	SNP	G	T	T			CHC432T																					ENST00000205194.4:c.204G>T	p.Leu68=	p.L68=	ENST00000205194	NM_020378.3	68	ctG/ctT	0	not done		synonymous	
XKR4		inserm.fr	GRCh37	8	56015670	56015670	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC891T																					ENST00000327381.6:c.622C>T	p.Arg208Cys	p.R208C	ENST00000327381	NM_052898.1	208	Cgt/Tgt	0	not done		probablydamaging	
OR5T3		inserm.fr	GRCh37	11	56020133	56020133	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1629T																					ENST00000303059.3:c.458A>T	p.Tyr153Phe	p.Y153F	ENST00000303059	NM_001004747.1	153	tAt/tTt	0	not done		benign	
MRPS17		inserm.fr	GRCh37	7	56020880	56020880	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM489T																					ENST00000426595.1:c.277A>T	p.Ser93Cys	p.S93C	ENST00000426595		93	Agc/Tgc	0	validated			
OR10P1		inserm.fr	GRCh37	12	56031552	56031552	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000309675.2:c.877C>T	p.Leu293Phe	p.L293F	ENST00000309675	NM_206899.1	293	Ctt/Ttt	0	not done		probablydamaging	
COL21A1		inserm.fr	GRCh37	6	56031724	56031724	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000244728.5:c.1258G>A	p.Ala420Thr	p.A420T	ENST00000244728	NM_030820.3	420	Gca/Aca	0	not done		possiblydamaging	
PRTG		inserm.fr	GRCh37	15	56032705	56032705	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2321T																					ENST00000389286.4:c.272G>A	p.Gly91Asp	p.G91D	ENST00000389286	NM_173814.4	91	gGc/gAc	0	validated		probablydamaging	
SBK2		inserm.fr	GRCh37	19	56041301	56041301	+	synonymous_variant	Silent	SNP	C	T	T			CHC1738T																					ENST00000413299.1:c.846G>A	p.Ala282=	p.A282=	ENST00000413299	NM_001101401.2	282	gcG/gcA	0	not done		synonymous	
SGK110		inserm.fr	GRCh37	19	56052241	56052241	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000420723.3:c.1051G>A	p.Gly351Arg	p.G351R	ENST00000420723	NM_001199824.2	351	Gga/Aga	0	not done			
OR8H1		inserm.fr	GRCh37	11	56058433	56058433	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1600T																					ENST00000313022.2:c.106C>A	p.Leu36Ile	p.L36I	ENST00000313022	NM_001005199.1	36	Cta/Ata	0	not done		benign	
OR8H1		inserm.fr	GRCh37	11	56058434	56058434	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1600T																					ENST00000313022.2:c.105C>A	p.Tyr35Ter	p.Y35*	ENST00000313022	NM_001005199.1	35	taC/taA	0	not done		damaging	
ZNF579		inserm.fr	GRCh37	19	56089370	56089370	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000325421.4:c.1636G>A	p.Glu546Lys	p.E546K	ENST00000325421	NM_152600.2	546	Gaa/Aaa	0	not done		benign	
CTCFL		inserm.fr	GRCh37	20	56089745	56089745	+	synonymous_variant	Silent	SNP	C	T	T			BCM739T																					ENST00000423479.3:c.1233G>A	p.Gly411=	p.G411=	ENST00000423479	NM_001269043.1	411	ggG/ggA	0	validated		synonymous	
EFEMP1		inserm.fr	GRCh37	2	56149539	56149539	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000394555.2:c.37G>A	p.Ala13Thr	p.A13T	ENST00000394555	NM_001039348.2	13	Gcg/Acg	0	not done		benign	
DYNLL2		inserm.fr	GRCh37	17	56166558	56166558	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1725T																					ENST00000579991.2:c.188G>T	p.Gly63Val	p.G63V	ENST00000579991	NM_080677.2	63	gGc/gTc	0	not done		probablydamaging	
ERC2		inserm.fr	GRCh37	3	56173584	56173584	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000288221.6:c.1426G>A	p.Glu476Lys	p.E476K	ENST00000288221	NM_015576.1	476	Gag/Aag	0	not done		probablydamaging	
SARNP		inserm.fr	GRCh37	12	56189808	56189808	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000336133.3:c.303+1G>A		p.X101_splice	ENST00000336133	NM_033082.3			0	not done		damaging	
EPN1		inserm.fr	GRCh37	19	56196973	56196973	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000411543.2:c.773C>T	p.Ala258Val	p.A258V	ENST00000411543	NM_001130071.1	258	gCg/gTg	0	validated		probablydamaging	
ALPK2		inserm.fr	GRCh37	18	56203085	56203085	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM531T																					ENST00000361673.3:c.4334C>A	p.Ala1445Glu	p.A1445E	ENST00000361673	NM_052947.3	1445	gCg/gAg	0	validated		benign	
EPN1		inserm.fr	GRCh37	19	56206553	56206553	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1055T																					ENST00000411543.2:c.1820A>T	p.Gln607Leu	p.Q607L	ENST00000411543	NM_001130071.1	607	cAg/cTg	0	validated		probablydamaging	
PMEPA1		inserm.fr	GRCh37	20	56227366	56227366	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC451T																					ENST00000341744.3:c.607G>A	p.Gly203Ser	p.G203S	ENST00000341744	NM_020182.4	203	Ggc/Agc	0	validated		probablydamaging	
OR5M9		inserm.fr	GRCh37	11	56230703	56230703	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC303T									Valid												ENST00000279791.1:c.175T>A	p.Phe59Ile	p.F59I	ENST00000279791	NM_001004743.1	59	Ttt/Att	0	validated		probablydamaging	
OR5M3		inserm.fr	GRCh37	11	56237573	56237573	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1185T																					ENST00000312240.2:c.401T>A	p.Met134Lys	p.M134K	ENST00000312240	NM_001004742.2	134	aTg/aAg	0	not done		probablydamaging	
EVC2		inserm.fr	GRCh37	4	5624313	5624313	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1148T																					ENST00000344408.5:c.2452G>A	p.Val818Met	p.V818M	ENST00000344408	NM_147127.4	818	Gtg/Atg	0	not done		benign	
EVC2		inserm.fr	GRCh37	4	5624408	5624408	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB231T																					ENST00000344408.5:c.2357C>A	p.Ala786Glu	p.A786E	ENST00000344408	NM_147127.4	786	gCa/gAa	0	validated		possiblydamaging	
NLRP9		inserm.fr	GRCh37	19	56244597	56244597	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000332836.2:c.600G>A	p.Glu200=	p.E200=	ENST00000332836	NM_176820.2	200	gaG/gaA	0	not done		synonymous	
ALPK2		inserm.fr	GRCh37	18	56247196	56247196	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361673.3:c.812G>A	p.Ser271Asn	p.S271N	ENST00000361673	NM_052947.3	271	aGc/aAc	0	not done		probablydamaging	
OR5M8		inserm.fr	GRCh37	11	56258319	56258319	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000327216.2:c.528C>A	p.Phe176Leu	p.F176L	ENST00000327216	NM_001005282.1	176	ttC/ttA	0	not done		benign	
EPX		inserm.fr	GRCh37	17	56271378	56271378	+	synonymous_variant	Silent	SNP	C	T	T			CHC1626T																					ENST00000225371.5:c.519C>T	p.Ala173=	p.A173=	ENST00000225371	NM_000502.4	173	gcC/gcT	0	not done		synonymous	
EPX		inserm.fr	GRCh37	17	56272467	56272467	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2034T																					ENST00000225371.5:c.737C>T	p.Ala246Val	p.A246V	ENST00000225371	NM_000502.4	246	gCc/gTc	0	not done		benign	
PMEPA1		inserm.fr	GRCh37	20	56284592	56284592	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000341744.3:c.47G>A	p.Gly16Glu	p.G16E	ENST00000341744	NM_020182.4	16	gGg/gAg	0	not done		benign	
MKS1		inserm.fr	GRCh37	17	56290365	56290365	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1592T																					ENST00000393119.2:c.836G>A	p.Arg279Gln	p.R279Q	ENST00000393119	NM_017777.3	279	cGg/cAg	0	not done		benign	
OR5M11		inserm.fr	GRCh37	11	56310098	56310098	+	synonymous_variant	Silent	SNP	G	T	T			CHC1712T																					ENST00000528616.2:c.636C>A	p.Ile212=	p.I212=	ENST00000528616	NM_001005245.1	212	atC/atA	0	not done		synonymous	
KLF8		inserm.fr	GRCh37	X	56310898	56310898	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000468660.1:c.1051C>T	p.Leu351=	p.L351=	ENST00000468660	NM_007250.4	351	Ctg/Ttg	0	not done		synonymous	
TRIM6		inserm.fr	GRCh37	11	5632063	5632063	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC258T																					ENST00000380097.3:c.1042C>T	p.Arg348Trp	p.R348W	ENST00000380097	NM_001003818.2	348	Cgg/Tgg	0	validated		probablydamaging	
DST		inserm.fr	GRCh37	6	56328500	56328500	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000244364.6:c.14881G>A	p.Gly4961Ser	p.G4961S	ENST00000244364	NM_015548.4	4961	Ggt/Agt	0	not done		benign	
DST		inserm.fr	GRCh37	6	56336031	56336031	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000244364.6:c.14325G>A	p.Trp4775Ter	p.W4775*	ENST00000244364	NM_015548.4	4775	tgG/tgA	0	not done		damaging	
DST		inserm.fr	GRCh37	6	56346923	56346923	+	synonymous_variant	Silent	SNP	C	T	T			CHC703T																					ENST00000244364.6:c.13587G>A	p.Ala4529=	p.A4529=	ENST00000244364	NM_015548.4	4529	gcG/gcA	0	not done		synonymous	
MPO		inserm.fr	GRCh37	17	56349108	56349108	+	synonymous_variant	Silent	SNP	G	T	T			CHC1712T																					ENST00000225275.3:c.1938C>A	p.Gly646=	p.G646=	ENST00000225275	NM_000250.1	646	ggC/ggA	0	not done		synonymous	
PMEL		inserm.fr	GRCh37	12	56349283	56349283	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000449260.2:c.1727G>A	p.Ser576Asn	p.S576N	ENST00000449260	NM_001200054.1	576	aGc/aAc	0	not done		probablydamaging	
MPO		inserm.fr	GRCh37	17	56350108	56350108	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000225275.3:c.1792+1G>A		p.X598_splice	ENST00000225275	NM_000250.1			0	not done		damaging	
DST		inserm.fr	GRCh37	6	56362264	56362264	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000244364.6:c.12267G>A	p.Trp4089Ter	p.W4089*	ENST00000244364	NM_015548.4	4089	tgG/tgA	0	not done		damaging	
NLRP4		inserm.fr	GRCh37	19	56379207	56379207	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000301295.6:c.2319C>T	p.Ala773=	p.A773=	ENST00000301295	NM_134444.4	773	gcC/gcT	0	not done		synonymous	
NLRP4		inserm.fr	GRCh37	19	56388473	56388473	+	synonymous_variant	Silent	SNP	G	T	T			CHC1211T																					ENST00000301295.6:c.2637G>T	p.Val879=	p.V879=	ENST00000301295	NM_134444.4	879	gtG/gtT	0	not done		synonymous	
BZRAP1		inserm.fr	GRCh37	17	56389324	56389324	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000343736.4:c.2858G>A	p.Gly953Glu	p.G953E	ENST00000343736		953	gGg/gAg	0	not done		benign	
BZRAP1		inserm.fr	GRCh37	17	56396611	56396611	+	synonymous_variant	Silent	SNP	C	T	T			CHC1207T																					ENST00000343736.4:c.1539G>A	p.Glu513=	p.E513=	ENST00000343736		513	gaG/gaA	0	not done		synonymous	
DST		inserm.fr	GRCh37	6	56400008	56400008	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1148T																					ENST00000244364.6:c.8984G>A	p.Trp2995Ter	p.W2995*	ENST00000244364	NM_015548.4	2995	tGg/tAg	0	not done		damaging	
BZRAP1		inserm.fr	GRCh37	17	56400095	56400095	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000343736.4:c.1237G>A	p.Val413Met	p.V413M	ENST00000343736		413	Gtg/Atg	0	not done		probablydamaging	
IKZF4		inserm.fr	GRCh37	12	56428641	56428641	+	synonymous_variant	Silent	SNP	G	T	T			CHC322T																					ENST00000262032.5:c.1284G>T	p.Leu428=	p.L428=	ENST00000262032		428	ctG/ctT	0	validated		synonymous	
OR5AR1		inserm.fr	GRCh37	11	56431602	56431602	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000302969.2:c.441C>T	p.Gly147=	p.G147=	ENST00000302969	NM_001004730.1	147	ggC/ggT	0	not done		synonymous	
FSCN1		inserm.fr	GRCh37	7	5643625	5643625	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000382361.3:c.1243C>T	p.Gln415Ter	p.Q415*	ENST00000382361	NM_003088.3	415	Cag/Tag	0	not done		damaging	
FSCN1		inserm.fr	GRCh37	7	5645062	5645062	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000382361.3:c.1439C>T	p.Ala480Val	p.A480V	ENST00000382361	NM_003088.3	480	gCc/gTc	0	not done		probablydamaging	
DST		inserm.fr	GRCh37	6	56469498	56469498	+	intron_variant	Intron	SNP	C	T	T			BCB111T																					ENST00000244364.6:c.3673-4479G>A		*1225*	ENST00000244364	NM_015548.4			0	validated			
DST		inserm.fr	GRCh37	6	56481746	56481746	+	intron_variant	Intron	SNP	A	T	T			CHC1183T																					ENST00000244364.6:c.3319-2464T>A		*1107*	ENST00000244364	NM_015548.4			0	not done		synonymous	
NLRP8		inserm.fr	GRCh37	19	56485106	56485106	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1185T																					ENST00000291971.3:c.2623G>T	p.Ala875Ser	p.A875S	ENST00000291971	NM_176811.2	875	Gca/Tca	0	not done		probablydamaging	
ESYT1		inserm.fr	GRCh37	12	56530614	56530614	+	synonymous_variant	Silent	SNP	C	T	T			CHC1738T																					ENST00000541590.1:c.1749C>T	p.Asp583=	p.D583=	ENST00000541590		583	gaC/gaT	0	not done		synonymous	
NLRP5		inserm.fr	GRCh37	19	56539571	56539571	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000390649.3:c.1972C>T	p.Pro658Ser	p.P658S	ENST00000390649	NM_153447.4	658	Ccc/Tcc	0	not done		benign	
TRIM34		inserm.fr	GRCh37	11	5653959	5653959	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC432T																					ENST00000354852.5:c.1460C>T	p.Thr487Met	p.T487M	ENST00000354852	NM_001003819.3	487	aCg/aTg	0	not done		benign	
BBS2		inserm.fr	GRCh37	16	56544770	56544770	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000245157.5:c.534+1G>A		p.X178_splice	ENST00000245157	NM_031885.3			0	not done		damaging	
BBS2		inserm.fr	GRCh37	16	56545186	56545186	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000245157.5:c.356G>A	p.Gly119Glu	p.G119E	ENST00000245157	NM_031885.3	119	gGg/gAg	0	not done		probablydamaging	
SMARCC2		inserm.fr	GRCh37	12	56563417	56563417	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1603T																					ENST00000267064.4:c.2518G>A	p.Glu840Lys	p.E840K	ENST00000267064	NM_003075.3	840	Gag/Aag	0	not done		probablydamaging	
SMARCC2		inserm.fr	GRCh37	12	56577708	56577708	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000267064.4:c.569G>A	p.Trp190Ter	p.W190*	ENST00000267064	NM_003075.3	190	tGg/tAg	0	not done		damaging	
UBQLN2		inserm.fr	GRCh37	X	56590885	56590885	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000338222.5:c.579C>T	p.Ser193=	p.S193=	ENST00000338222	NM_013444.3	193	agC/agT	0	not done		synonymous	
SEPT4		inserm.fr	GRCh37	17	56598465	56598465	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1041T																					ENST00000457347.2:c.1216C>A	p.His406Asn	p.H406N	ENST00000457347	NM_001256782.1	406	Cac/Aac	0	validated		probablydamaging	
ZNF787		inserm.fr	GRCh37	19	56614574	56614574	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2099T																					ENST00000270459.3:c.13G>A	p.Glu5Lys	p.E5K	ENST00000270459	NM_001002836.2	5	Gaa/Aaa	0	not done		possiblydamaging	
ANKRD52		inserm.fr	GRCh37	12	56641370	56641370	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC796T																					ENST00000267116.7:c.2091G>A	p.Met697Ile	p.M697I	ENST00000267116	NM_173595.3	697	atG/atA	0	validated		probablydamaging	
CS		inserm.fr	GRCh37	12	56668817	56668817	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1708T																					ENST00000351328.3:c.887T>A	p.Leu296Gln	p.L296Q	ENST00000351328	NM_004077.2	296	cTg/cAg	0	not done		probablydamaging	
CS		inserm.fr	GRCh37	12	56676244	56676244	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1626T																					ENST00000351328.3:c.548G>A	p.Arg183Gln	p.R183Q	ENST00000351328	NM_004077.2	183	cGa/cAa	0	not done		benign	
CNPY2		inserm.fr	GRCh37	12	56708940	56708940	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1534T																					ENST00000273308.4:c.62G>A	p.Arg21Gln	p.R21Q	ENST00000273308	NM_014255.5	21	cGg/cAg	0	validated		probablydamaging	
APOF		inserm.fr	GRCh37	12	56755074	56755074	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2098T																					ENST00000398189.3:c.916T>A	p.Tyr306Asn	p.Y306N	ENST00000398189	NM_001638.2	306	Tac/Aac	0	not done		benign	
PELI2		inserm.fr	GRCh37	14	56755184	56755184	+	synonymous_variant	Silent	SNP	C	T	T			CHC1725T																					ENST00000267460.4:c.339C>T	p.Asp113=	p.D113=	ENST00000267460	NM_021255.2	113	gaC/gaT	0	not done		synonymous	
PELI2		inserm.fr	GRCh37	14	56757030	56757030	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000267460.4:c.552G>T	p.Gly184=	p.G184=	ENST00000267460	NM_021255.2	184	ggG/ggT	0	not done		synonymous	
EXOC1		inserm.fr	GRCh37	4	56759917	56759917	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC303T									Valid												ENST00000381295.2:c.1924A>T	p.Thr642Ser	p.T642S	ENST00000381295	NM_001024924.1	642	Act/Tct	0	validated		benign	
ACTBL2		inserm.fr	GRCh37	5	56777771	56777771	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC891T																					ENST00000423391.1:c.764G>A	p.Arg255His	p.R255H	ENST00000423391	NM_001017992.3	255	cGc/cAc	0	validated		probablydamaging	
RAD51C		inserm.fr	GRCh37	17	56801452	56801452	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000337432.4:c.956G>T	p.Arg319Leu	p.R319L	ENST00000337432	NM_058216.2	319	cGa/cTa	0	not done		benign	
RNF216		inserm.fr	GRCh37	7	5680927	5680927	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000389902.3:c.2240G>A	p.Arg747His	p.R747H	ENST00000389902		747	cGc/cAc	0	not done		probablydamaging	
ASB13		inserm.fr	GRCh37	10	5683877	5683877	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000357700.6:c.565G>A	p.Ala189Thr	p.A189T	ENST00000357700	NM_024701.3	189	Gcg/Acg	0	not done		probablydamaging	
HSD11B1L		inserm.fr	GRCh37	19	5686915	5686915	+	synonymous_variant	Silent	SNP	G	T	T			CHC912T																					ENST00000423665.2:c.321G>T	p.Gly107=	p.G107=	ENST00000423665	NM_198533.2	107	ggG/ggT	0	validated		synonymous	
NUP93		inserm.fr	GRCh37	16	56875681	56875681	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T									Valid												ENST00000308159.5:c.2285G>T	p.Arg762Met	p.R762M	ENST00000308159	NM_014669.4	762	aGg/aTg	0	validated		probablydamaging	
ZNF583		inserm.fr	GRCh37	19	56935330	56935330	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000333201.9:c.1303C>T	p.Pro435Ser	p.P435S	ENST00000333201	NM_001159861.1	435	Ccc/Tcc	0	not done		probablydamaging	
LRRC55		inserm.fr	GRCh37	11	56949638	56949638	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC609T																					ENST00000497933.1:c.271G>T	p.Val91Leu	p.V91L	ENST00000497933	NM_001005210.2	91	Gtg/Ttg	0	validated		benign	
ZNF667		inserm.fr	GRCh37	19	56953483	56953483	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC2216T																					ENST00000504904.3:c.881C>A	p.Ser294Ter	p.S294*	ENST00000504904		294	tCa/tAa	0	not done		damaging	
RBMS2		inserm.fr	GRCh37	12	56965567	56965567	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC451T																					ENST00000262031.5:c.470C>T	p.Pro157Leu	p.P157L	ENST00000262031	NM_002898.3	157	cCc/cTc	0	validated		possiblydamaging	
RPS20		inserm.fr	GRCh37	8	56982353	56982353	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000519807.1:c.373G>A	p.Gly125Ser	p.G125S	ENST00000519807	NM_001146227.1	125	Ggc/Agc	0	not done		possiblydamaging	
RPS20		inserm.fr	GRCh37	8	56985660	56985660	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000519807.1:c.333+16G>A		*111*	ENST00000519807	NM_001146227.1			0	not done		benign	
LONP1		inserm.fr	GRCh37	19	5699058	5699058	+	synonymous_variant	Silent	SNP	C	T	T			CHC1746T																					ENST00000360614.3:c.1665G>A	p.Val555=	p.V555=	ENST00000360614	NM_004793.3	555	gtG/gtA	0	not done		synonymous	
ZNF280D		inserm.fr	GRCh37	15	56993400	56993400	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000267807.7:c.212G>A	p.Arg71Lys	p.R71K	ENST00000267807	NM_017661.2	71	aGg/aAg	0	not done		benign	
BAZ2A		inserm.fr	GRCh37	12	56995771	56995771	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000551812.1:c.3636G>A	p.Gln1212=	p.Q1212=	ENST00000551812	NM_013449.3	1212	caG/caA	0	not done		synonymous	
BAZ2A		inserm.fr	GRCh37	12	56999832	56999832	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000551812.1:c.2281G>A	p.Gly761Arg	p.G761R	ENST00000551812	NM_013449.3	761	Gga/Aga	0	not done		benign	
APLNR		inserm.fr	GRCh37	11	57004253	57004253	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC326T									Valid												ENST00000606794.1:c.226C>A	p.Leu76Met	p.L76M	ENST00000606794	NM_005161.4	76	Ctg/Atg	0	validated		probablydamaging	
BAZ2A		inserm.fr	GRCh37	12	57009334	57009334	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC912T									Valid												ENST00000551812.1:c.200C>A	p.Ser67Ter	p.S67*	ENST00000551812	NM_013449.3	67	tCa/tAa	0	validated		damaging	
MOS		inserm.fr	GRCh37	8	57025770	57025770	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2099T																					ENST00000311923.1:c.772C>A	p.Pro258Thr	p.P258T	ENST00000311923	NM_005372.1	258	Cct/Act	0	not done		benign	
ATP5B		inserm.fr	GRCh37	12	57039726	57039726	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000262030.3:c.22G>A	p.Val8Met	p.V8M	ENST00000262030	NM_001686.3	8	Gtg/Atg	0	not done		possiblydamaging	
APCDD1L		inserm.fr	GRCh37	20	57042429	57042429	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC432T																					ENST00000371149.3:c.474C>A	p.Cys158Ter	p.C158*	ENST00000371149	NM_153360.1	158	tgC/tgA	0	not done		damaging	
NLRC5		inserm.fr	GRCh37	16	57054778	57054778	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC314T									Valid												ENST00000262510.6:c.154C>T	p.Gln52Ter	p.Q52*	ENST00000262510	NM_032206.4	52	Cag/Tag	0	validated		damaging	
ZFP28		inserm.fr	GRCh37	19	57066754	57066754	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1191T																					ENST00000301318.3:c.2600C>T	p.Ser867Leu	p.S867L	ENST00000301318	NM_020828.1	867	tCa/tTa	0	not done		benign	
TNKS1BP1		inserm.fr	GRCh37	11	57070031	57070031	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000532437.1:c.4585G>A	p.Ala1529Thr	p.A1529T	ENST00000532437		1529	Gca/Aca	0	not done		benign	
TNKS1BP1		inserm.fr	GRCh37	11	57076617	57076617	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000532437.1:c.3568G>A	p.Gly1190Arg	p.G1190R	ENST00000532437		1190	Gga/Aga	0	not done		probablydamaging	
PLAG1		inserm.fr	GRCh37	8	57079438	57079438	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM711T																					ENST00000316981.3:c.867C>A	p.Asn289Lys	p.N289K	ENST00000316981	NM_002655.2	289	aaC/aaA	0	validated		possiblydamaging	
TNKS1BP1		inserm.fr	GRCh37	11	57080215	57080215	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000532437.1:c.1947G>A	p.Glu649=	p.E649=	ENST00000532437		649	gaG/gaA	0	not done		synonymous	
LONP1		inserm.fr	GRCh37	19	5708388	5708388	+	synonymous_variant	Silent	SNP	G	T	T			CHC1041T																					ENST00000360614.3:c.897C>A	p.Thr299=	p.T299=	ENST00000360614	NM_004793.3	299	acC/acA	0	validated		synonymous	
ZNF470		inserm.fr	GRCh37	19	57089034	57089034	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC314T									Valid												ENST00000330619.8:c.1237A>T	p.Ile413Phe	p.I413F	ENST00000330619	NM_001001668.3	413	Att/Ttt	0	validated		possiblydamaging	
TRIM37		inserm.fr	GRCh37	17	57093138	57093138	+	synonymous_variant	Silent	SNP	A	T	T			CHC796T																					ENST00000262294.7:c.2409T>A	p.Ser803=	p.S803=	ENST00000262294	NM_015294.3	803	tcT/tcA	0	validated		synonymous	
EVC2		inserm.fr	GRCh37	4	5710033	5710033	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000344408.5:c.208G>A	p.Gly70Arg	p.G70R	ENST00000344408	NM_147127.4	70	Ggg/Agg	0	not done		benign	
CCBE1		inserm.fr	GRCh37	18	57103355	57103355	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1592T																					ENST00000439986.4:c.1006G>A	p.Asp336Asn	p.D336N	ENST00000439986	NM_133459.3	336	Gac/Aac	0	not done		probablydamaging	
NACA		inserm.fr	GRCh37	12	57111249	57111249	+	intron_variant	Intron	SNP	G	T	T			CHC051T																					ENST00000550952.1:c.1865-1259C>A		*622*	ENST00000550952				0	validated		synonymous	
PRIM1		inserm.fr	GRCh37	12	57139908	57139908	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC304T									Valid												ENST00000338193.6:c.500G>A	p.Cys167Tyr	p.C167Y	ENST00000338193	NM_000946.2	167	tGt/tAt	0	validated		probablydamaging	
PRIM1		inserm.fr	GRCh37	12	57140722	57140722	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2127T																					ENST00000338193.6:c.356G>A	p.Arg119Lys	p.R119K	ENST00000338193	NM_000946.2	119	aGg/aAg	0	not done		probablydamaging	
CCBE1		inserm.fr	GRCh37	18	57147424	57147424	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB151T																					ENST00000439986.4:c.259C>A	p.Pro87Thr	p.P87T	ENST00000439986	NM_133459.3	87	Cca/Aca	0	validated		probablydamaging	
PRG2		inserm.fr	GRCh37	11	57155257	57155257	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000311862.5:c.580G>A	p.Gly194Ser	p.G194S	ENST00000311862	NM_002728.4	194	Ggt/Agt	0	not done		benign	
PRKAA2		inserm.fr	GRCh37	1	57170140	57170140	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM321T																					ENST00000371244.4:c.1285G>T	p.Glu429Ter	p.E429*	ENST00000371244	NM_006252.3	429	Gaa/Taa	0	validated		damaging	
ZNF835		inserm.fr	GRCh37	19	57175460	57175460	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000537055.2:c.1107G>A	p.Lys369=	p.K369=	ENST00000537055	NM_001005850.2	369	aaG/aaA	0	not done		synonymous	
ZNF835		inserm.fr	GRCh37	19	57175975	57175975	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1192T																					ENST00000537055.2:c.592G>A	p.Asp198Asn	p.D198N	ENST00000537055	NM_001005850.2	198	Gac/Aac	0	not done		possiblydamaging	
ZNF835		inserm.fr	GRCh37	19	57176001	57176001	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1207T																					ENST00000537055.2:c.566C>A	p.Thr189Lys	p.T189K	ENST00000537055	NM_001005850.2	189	aCg/aAg	0	not done		probablydamaging	
ZNF835		inserm.fr	GRCh37	19	57176053	57176053	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC121T																					ENST00000537055.2:c.514G>A	p.Gly172Ser	p.G172S	ENST00000537055	NM_001005850.2	172	Ggc/Agc	0	validated		probablydamaging	
ZNF835		inserm.fr	GRCh37	19	57176422	57176422	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000537055.2:c.145G>A	p.Asp49Asn	p.D49N	ENST00000537055	NM_001005850.2	49	Gac/Aac	0	not done		benign	
SLC43A3		inserm.fr	GRCh37	11	57177548	57177548	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000395123.2:c.1107G>A	p.Leu369=	p.L369=	ENST00000395123	NM_014096.3	369	ctG/ctA	0	not done		synonymous	
SLC43A3		inserm.fr	GRCh37	11	57182167	57182167	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC923T																					ENST00000395123.2:c.981C>A	p.Phe327Leu	p.F327L	ENST00000395123	NM_014096.3	327	ttC/ttA	0	not done		benign	
PRIM2		inserm.fr	GRCh37	6	57190770	57190770	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC917T																					ENST00000607273.1:c.386G>T	p.Arg129Leu	p.R129L	ENST00000607273	NM_000947.3	129	cGa/cTa	0	validated		probablydamaging	
RTN4RL2		inserm.fr	GRCh37	11	57235240	57235240	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCM695T																					ENST00000335099.3:c.190C>T	p.Arg64Ter	p.R64*	ENST00000335099	NM_178570.2	64	Cga/Tga	0	validated		damaging	
RSPRY1		inserm.fr	GRCh37	16	57269034	57269034	+	splice_acceptor_variant	Splice_Site	SNP	A	T	T			BCM321T									Valid												ENST00000537866.1:c.1530-2A>T		p.X510_splice	ENST00000537866				0	validated		damaging	
PPAT		inserm.fr	GRCh37	4	57272705	57272705	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM783T																					ENST00000264220.2:c.358G>A	p.Ala120Thr	p.A120T	ENST00000264220	NM_002703.4	120	Gca/Aca	0	validated		probablydamaging	
NPEPL1		inserm.fr	GRCh37	20	57276147	57276147	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM711T									Valid												ENST00000356091.6:c.755C>T	p.Thr252Met	p.T252M	ENST00000356091	NM_024663.3	252	aCg/aTg	0	validated		probablydamaging	
SMG8		inserm.fr	GRCh37	17	57287965	57287965	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1152T																					ENST00000543872.2:c.553G>T	p.Ala185Ser	p.A185S	ENST00000543872		185	Gca/Tca	0	not done		probablydamaging	
SMG8		inserm.fr	GRCh37	17	57288280	57288280	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1747T																					ENST00000543872.2:c.868A>T	p.Lys290Ter	p.K290*	ENST00000543872		290	Aag/Tag	0	not done		damaging	
PEG3		inserm.fr	GRCh37	19	57325608	57325608	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC097T																					ENST00000326441.9:c.4202C>A	p.Ala1401Asp	p.A1401D	ENST00000326441	NM_006210.2	1401	gCt/gAt	0	not done		probablydamaging	
PEG3		inserm.fr	GRCh37	19	57328815	57328815	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM375T									Valid												ENST00000326441.9:c.995G>A	p.Arg332Lys	p.R332K	ENST00000326441	NM_006210.2	332	aGg/aAg	0	validated		probablydamaging	
EVC		inserm.fr	GRCh37	4	5733212	5733212	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM545T																					ENST00000382674.2:c.445C>T	p.Pro149Ser	p.P149S	ENST00000382674		149	Cca/Tca	0	validated		probablydamaging	
SRP72		inserm.fr	GRCh37	4	57344610	57344610	+	synonymous_variant	Silent	SNP	G	T	T			CHC1725T																					ENST00000342756.5:c.708G>T	p.Leu236=	p.L236=	ENST00000342756	NM_006947.3	236	ctG/ctT	0	not done		synonymous	
C8A		inserm.fr	GRCh37	1	57351660	57351660	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC097T																					ENST00000361249.3:c.916G>T	p.Asp306Tyr	p.D306Y	ENST00000361249	NM_000562.2	306	Gat/Tat	0	not done		possiblydamaging	
FAAH2		inserm.fr	GRCh37	X	57367818	57367818	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000374900.4:c.737C>T	p.Ser246Phe	p.S246F	ENST00000374900	NM_174912.3	246	tCt/tTt	0	not done		probablydamaging	
C8B		inserm.fr	GRCh37	1	57406552	57406552	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000371237.4:c.1368G>A	p.Val456=	p.V456=	ENST00000371237	NM_000066.3	456	gtG/gtA	0	not done		synonymous	
DNAH12		inserm.fr	GRCh37	3	57414117	57414117	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB307T																					ENST00000351747.2:c.5242C>A	p.Arg1748Ser	p.R1748S	ENST00000351747	NM_178504.4	1748	Cgt/Agt	0	validated		benign	
GNAS		inserm.fr	GRCh37	20	57415285	57415285	+	intron_variant,non_coding_transcript_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000424094.2:n.819+1707G>A		*273*	ENST00000424094				0	not done		probablydamaging	
GNAS		inserm.fr	GRCh37	20	57415298	57415298	+	intron_variant,non_coding_transcript_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000424094.2:n.819+1694G>A		*273*	ENST00000424094				0	not done		probablydamaging	
CLP1		inserm.fr	GRCh37	11	57427071	57427071	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2206T																					ENST00000533682.1:c.123G>T	p.Met41Ile	p.M41I	ENST00000533682		41	atG/atT	0	not done		benign	
GNAS		inserm.fr	GRCh37	20	57429579	57429579	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371100.4:c.1259C>T	p.Pro420Leu	p.P420L	ENST00000371100	NM_001077490.1	420	cCt/cTt	0	not done		benign	
GNAS		inserm.fr	GRCh37	20	57429844	57429844	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000371100.4:c.1524C>T	p.Ala508=	p.A508=	ENST00000371100	NM_001077490.1	508	gcC/gcT	0	not done		synonymous	
DNAH12		inserm.fr	GRCh37	3	57431770	57431770	+	synonymous_variant	Silent	SNP	C	T	T			CHC2048T																					ENST00000351747.2:c.4098G>A	p.Pro1366=	p.P1366=	ENST00000351747	NM_178504.4	1366	ccG/ccA	0	not done		synonymous	
DNAH12		inserm.fr	GRCh37	3	57439053	57439053	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000351747.2:c.3465G>A	p.Lys1155=	p.K1155=	ENST00000351747	NM_178504.4	1155	aaG/aaA	0	not done		synonymous	
ZDHHC5		inserm.fr	GRCh37	11	57440666	57440666	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC1717T																					ENST00000287169.3:c.104C>T	p.Thr35Met	p.T35M	ENST00000287169	NM_015457.2	35	aCg/aTg	0	validated		probablydamaging	
TMEM194A		inserm.fr	GRCh37	12	57457055	57457055	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000300128.4:c.827G>A	p.Ser276Asn	p.S276N	ENST00000300128	NM_001130963.1	276	aGt/aAt	0	not done		possiblydamaging	
EVC		inserm.fr	GRCh37	4	5747069	5747069	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC1743T																					ENST00000382674.2:c.939+1G>T		p.X313_splice	ENST00000382674				0	not done		damaging	
DNAH12		inserm.fr	GRCh37	3	57493438	57493438	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2099T																					ENST00000311202.6:c.829C>A	p.Leu277Ile	p.L277I	ENST00000311202	NM_198564.3	277	Cta/Ata	0	not done		possiblydamaging	
COQ9		inserm.fr	GRCh37	16	57494013	57494013	+	synonymous_variant	Silent	SNP	G	T	T			CHC1731T																					ENST00000262507.6:c.918G>T	p.Val306=	p.V306=	ENST00000262507	NM_020312.3	306	gtG/gtT	0	not done		synonymous	
STAT6		inserm.fr	GRCh37	12	57499120	57499120	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000300134.3:c.815G>A	p.Cys272Tyr	p.C272Y	ENST00000300134	NM_001178078.1	272	tGc/tAc	0	not done		benign	
BTBD18		inserm.fr	GRCh37	11	57512907	57512907	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1629T																					ENST00000422652.1:c.838T>A	p.Ser280Thr	p.S280T	ENST00000422652	NM_001145101.1	280	Tcc/Acc	0	not done		benign	
ZNF716		inserm.fr	GRCh37	7	57529237	57529237	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2141T																					ENST00000420713.1:c.1070G>T	p.Cys357Phe	p.C357F	ENST00000420713	NM_001159279.1	357	tGt/tTt	0	not done		probablydamaging	
PDE12		inserm.fr	GRCh37	3	57542299	57542299	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1041T									Valid												ENST00000311180.8:c.193C>T	p.Arg65Cys	p.R65C	ENST00000311180	NM_177966.5	65	Cgc/Tgc	0	validated		probablydamaging	
PDE12		inserm.fr	GRCh37	3	57545728	57545728	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T									Valid												ENST00000311180.8:c.1827A>T	p.Lys609Asn	p.K609N	ENST00000311180	NM_177966.5	609	aaA/aaT	0	validated		possiblydamaging	
CCDC102A		inserm.fr	GRCh37	16	57562973	57562973	+	synonymous_variant	Silent	SNP	C	T	T			CHC2113T																					ENST00000258214.2:c.117G>A	p.Pro39=	p.P39=	ENST00000258214	NM_033212.3	39	ccG/ccA	0	validated		synonymous	
NELFCD		inserm.fr	GRCh37	20	57566121	57566121	+	synonymous_variant	Silent	SNP	G	T	T			BCM423T																					ENST00000602795.1:c.999G>T	p.Pro333=	p.P333=	ENST00000602795	NM_198976.2	333	ccG/ccT	0	validated		synonymous	
PMAIP1		inserm.fr	GRCh37	18	57567456	57567456	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1629T																					ENST00000316660.6:c.47G>T	p.Arg16Leu	p.R16L	ENST00000316660	NM_021127.2	16	cGg/cTg	0	not done		probablydamaging	
LRP1		inserm.fr	GRCh37	12	57567666	57567666	+	synonymous_variant	Silent	SNP	C	T	T			CHC1725T																					ENST00000243077.3:c.3450C>T	p.His1150=	p.H1150=	ENST00000243077	NM_002332.2	1150	caC/caT	0	not done		synonymous	
CTNND1		inserm.fr	GRCh37	11	57569420	57569420	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1611T																					ENST00000399050.4:c.1172A>T	p.Gln391Leu	p.Q391L	ENST00000399050	NM_001085458.1	391	cAa/cTa	0	not done		probablydamaging	
LRP1		inserm.fr	GRCh37	12	57573918	57573918	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000243077.3:c.5230C>T	p.Pro1744Ser	p.P1744S	ENST00000243077	NM_002332.2	1744	Ccc/Tcc	0	not done		probablydamaging	
EVC		inserm.fr	GRCh37	4	5758074	5758074	+	synonymous_variant	Silent	SNP	G	T	T			CHC322T																					ENST00000382674.2:c.1548G>T	p.Val516=	p.V516=	ENST00000382674		516	gtG/gtT	0	validated		synonymous	
LRP1		inserm.fr	GRCh37	12	57587358	57587358	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC258T																					ENST00000243077.3:c.7694G>T	p.Arg2565Leu	p.R2565L	ENST00000243077	NM_002332.2	2565	cGc/cTc	0	validated		benign	
ATP5E		inserm.fr	GRCh37	20	57605367	57605367	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000243997.3:c.150G>A	p.Lys50=	p.K50=	ENST00000243997	NM_006886.3	50	aaG/aaA	0	not done		synonymous	
NXPH4		inserm.fr	GRCh37	12	57619464	57619464	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000349394.5:c.861C>T	p.Asp287=	p.D287=	ENST00000349394	NM_007224.3	287	gaC/gaT	0	not done		synonymous	
SHMT2		inserm.fr	GRCh37	12	57627059	57627059	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000328923.3:c.954C>T	p.Ala318=	p.A318=	ENST00000328923	NM_005412.5	318	gcC/gcT	0	validated		synonymous	
NDUFA4L2		inserm.fr	GRCh37	12	57630450	57630450	+	synonymous_variant	Silent	SNP	G	T	T			BCM375T																					ENST00000393825.1:c.72C>A	p.Ile24=	p.I24=	ENST00000393825	NM_020142.3	24	atC/atA	0	validated		synonymous	
USP29		inserm.fr	GRCh37	19	57641928	57641928	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC801T																					ENST00000254181.4:c.1885G>T	p.Glu629Ter	p.E629*	ENST00000254181	NM_020903.2	629	Gag/Tag	0	not done		damaging	
KIAA1432		inserm.fr	GRCh37	9	5765430	5765430	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC434T																					ENST00000414202.2:c.2858C>T	p.Ala953Val	p.A953V	ENST00000414202	NM_001206557.1	953	gCa/gTa	0	validated		benign	
GPR56		inserm.fr	GRCh37	16	57689846	57689846	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000388812.4:c.959C>T	p.Thr320Ile	p.T320I	ENST00000388812		320	aCc/aTc	0	not done		benign	
CGNL1		inserm.fr	GRCh37	15	57731208	57731208	+	synonymous_variant	Silent	SNP	C	T	T			CHC322T																					ENST00000281282.5:c.1011C>T	p.Phe337=	p.F337=	ENST00000281282	NM_032866.4	337	ttC/ttT	0	validated		synonymous	
AURKC		inserm.fr	GRCh37	19	57743412	57743412	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000302804.7:c.116C>T	p.Thr39Ile	p.T39I	ENST00000302804	NM_001015878.1	39	aCa/aTa	0	validated		benign	
CGNL1		inserm.fr	GRCh37	15	57744451	57744451	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1185T																					ENST00000281282.5:c.2018A>T	p.Glu673Val	p.E673V	ENST00000281282	NM_032866.4	673	gAa/gTa	0	not done		probablydamaging	
CLTC		inserm.fr	GRCh37	17	57758765	57758765	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB111T									Valid												ENST00000269122.3:c.3175G>T	p.Ala1059Ser	p.A1059S	ENST00000269122	NM_004859.3	1059	Gcc/Tcc	0	validated		probablydamaging	
OR52N4		inserm.fr	GRCh37	11	5776065	5776065	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000317254.3:c.95C>T	p.Pro32Leu	p.P32L	ENST00000317254	NM_001005175.3	32	cCa/cTa	0	not done		benign	
CLTC		inserm.fr	GRCh37	17	57762522	57762522	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC303T									Valid												ENST00000269122.3:c.4540C>T	p.Leu1514Phe	p.L1514F	ENST00000269122	NM_004859.3	1514	Ctc/Ttc	0	validated		probablydamaging	
ZNF805		inserm.fr	GRCh37	19	57765251	57765251	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM337T																					ENST00000414468.2:c.1064G>T	p.Arg355Ile	p.R355I	ENST00000414468	NM_001023563.3	355	aGa/aTa	0	validated		possiblydamaging	
ZNF831		inserm.fr	GRCh37	20	57767749	57767749	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T									Valid												ENST00000371030.2:c.1675C>T	p.Arg559Trp	p.R559W	ENST00000371030	NM_178457.2	559	Cgg/Tgg	0	validated		probablydamaging	
ZNF831		inserm.fr	GRCh37	20	57767995	57767995	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC313T									Valid												ENST00000371030.2:c.1921G>T	p.Gly641Ter	p.G641*	ENST00000371030	NM_178457.2	641	Gga/Tga	0	validated		damaging	
ZNF831		inserm.fr	GRCh37	20	57768218	57768218	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371030.2:c.2144C>T	p.Ala715Val	p.A715V	ENST00000371030	NM_178457.2	715	gCc/gTc	0	not done		possiblydamaging	
KATNB1		inserm.fr	GRCh37	16	57785571	57785571	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1616T																					ENST00000379661.3:c.451C>T	p.Arg151Trp	p.R151W	ENST00000379661	NM_005886.2	151	Cgg/Tgg	0	not done		probablydamaging	
KATNB1		inserm.fr	GRCh37	16	57787148	57787148	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1556T																					ENST00000379661.3:c.1015C>T	p.Arg339Trp	p.R339W	ENST00000379661	NM_005886.2	339	Cgg/Tgg	0	not done		probablydamaging	
REST		inserm.fr	GRCh37	4	57796544	57796544	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1725T																					ENST00000309042.7:c.1520G>T	p.Gly507Val	p.G507V	ENST00000309042	NM_005612.4	507	gGa/gTa	0	not done		probablydamaging	
REST		inserm.fr	GRCh37	4	57798059	57798059	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC302T									Valid												ENST00000309042.7:c.3035A>T	p.His1012Leu	p.H1012L	ENST00000309042	NM_005612.4	1012	cAc/cTc	0	validated		probablydamaging	
BSG		inserm.fr	GRCh37	19	578040	578040	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1757T																					ENST00000333511.3:c.334A>T	p.Asn112Tyr	p.N112Y	ENST00000333511	NM_001728.3	112	Aac/Tac	0	not done		probablydamaging	
ZNF831		inserm.fr	GRCh37	20	57829516	57829516	+	synonymous_variant	Silent	SNP	G	T	T			CHC1052T																					ENST00000371030.2:c.4752G>T	p.Gly1584=	p.G1584=	ENST00000371030	NM_178457.2	1584	ggG/ggT	0	validated		synonymous	
NOA1		inserm.fr	GRCh37	4	57829643	57829643	+	synonymous_variant	Silent	SNP	C	T	T			CHC1739T																					ENST00000264230.4:c.2070G>A	p.Arg690=	p.R690=	ENST00000264230	NM_032313.2	690	agG/agA	0	not done		synonymous	
PRR22		inserm.fr	GRCh37	19	5783267	5783267	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1745T																					ENST00000419421.2:c.991C>A	p.Leu331Met	p.L331M	ENST00000419421	NM_001134316.1	331	Ctg/Atg	0	not done		probablydamaging	
PRR22		inserm.fr	GRCh37	19	5783443	5783443	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1715T																					ENST00000419421.2:c.815C>A	p.Pro272His	p.P272H	ENST00000419421	NM_001134316.1	272	cCc/cAc	0	not done		probablydamaging	
PRR22		inserm.fr	GRCh37	19	5783695	5783695	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC734T																					ENST00000419421.2:c.563C>A	p.Pro188His	p.P188H	ENST00000419421	NM_001134316.1	188	cCc/cAc	0	validated		probablydamaging	
ZNF543		inserm.fr	GRCh37	19	57839118	57839118	+	synonymous_variant	Silent	SNP	G	T	T			BCB157T																					ENST00000321545.4:c.288G>T	p.Leu96=	p.L96=	ENST00000321545	NM_213598.3	96	ctG/ctT	0	validated		synonymous	
PRR22		inserm.fr	GRCh37	19	5784053	5784053	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1154T																					ENST00000419421.2:c.205G>A	p.Ala69Thr	p.A69T	ENST00000419421	NM_001134316.1	69	Gcc/Acc	0	not done		probablydamaging	
GLI1		inserm.fr	GRCh37	12	57858487	57858487	+	synonymous_variant	Silent	SNP	C	T	T			CHC1600T																					ENST00000228682.2:c.225C>T	p.Val75=	p.V75=	ENST00000228682	NM_005269.2	75	gtC/gtT	0	not done		synonymous	
GLI1		inserm.fr	GRCh37	12	57858592	57858592	+	synonymous_variant	Silent	SNP	C	T	T			CHC1600T																					ENST00000228682.2:c.330C>T	p.Ile110=	p.I110=	ENST00000228682	NM_005269.2	110	atC/atT	0	not done		synonymous	
DDIT3		inserm.fr	GRCh37	12	57910662	57910662	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1757T																					ENST00000551116.1:c.509G>A	p.Arg170His	p.R170H	ENST00000551116	NM_001195054.1	170	cGc/cAc	0	not done		probablydamaging	
VMP1		inserm.fr	GRCh37	17	57917206	57917206	+	synonymous_variant	Silent	SNP	C	T	T			CHC2208T																					ENST00000262291.4:c.1155C>T	p.Asn385=	p.N385=	ENST00000262291	NM_030938.3	385	aaC/aaT	0	not done		synonymous	
MBD6		inserm.fr	GRCh37	12	57922049	57922049	+	synonymous_variant	Silent	SNP	C	T	T			CHC884T																					ENST00000355673.3:c.2526C>T	p.Asp842=	p.D842=	ENST00000355673	NM_052897.3	842	gaC/gaT	0	validated		synonymous	
DCTN2		inserm.fr	GRCh37	12	57926560	57926560	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM529T																					ENST00000434715.3:c.823G>A	p.Ala275Thr	p.A275T	ENST00000434715	NM_006400.4	275	Gcc/Acc	0	validated		benign	
ZNF17		inserm.fr	GRCh37	19	57932695	57932695	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM257T																					ENST00000601808.1:c.1835G>T	p.Cys612Phe	p.C612F	ENST00000601808	NM_006959.2	612	tGc/tTc	0	validated		probablydamaging	
OR9Q1		inserm.fr	GRCh37	11	57947306	57947306	+	synonymous_variant	Silent	SNP	G	T	T			CHC1629T																					ENST00000335397.3:c.390G>T	p.Leu130=	p.L130=	ENST00000335397	NM_001005212.3	130	ctG/ctT	0	not done		synonymous	
C14orf105		inserm.fr	GRCh37	14	57949829	57949829	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2141T																					ENST00000216445.3:c.347G>A	p.Gly116Glu	p.G116E	ENST00000216445	NM_018168.2	116	gGa/gAa	0	not done		benign	
OR9Q2		inserm.fr	GRCh37	11	57958829	57958829	+	synonymous_variant	Silent	SNP	C	T	T			BCM275T																					ENST00000311591.3:c.867C>T	p.Ile289=	p.I289=	ENST00000311591	NM_001005283.2	289	atC/atT	0	validated		synonymous	
OR1S2		inserm.fr	GRCh37	11	57970741	57970741	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1736T																					ENST00000302592.6:c.913T>A	p.Leu305Met	p.L305M	ENST00000302592	NM_001004459.1	305	Ttg/Atg	0	not done		probablydamaging	
OR52N5		inserm.fr	GRCh37	11	5798941	5798941	+	synonymous_variant	Silent	SNP	C	T	T			CHC799T																					ENST00000317093.2:c.924G>A	p.Gln308=	p.Q308=	ENST00000317093	NM_001001922.2	308	caG/caA	0	not done		synonymous	
OR52N5		inserm.fr	GRCh37	11	5798964	5798964	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC799T																					ENST00000317093.2:c.901G>A	p.Val301Ile	p.V301I	ENST00000317093	NM_001001922.2	301	Gtt/Att	0	not done		possiblydamaging	
PIP4K2C		inserm.fr	GRCh37	12	57989763	57989763	+	synonymous_variant	Silent	SNP	A	T	T			CHC805T																					ENST00000354947.5:c.462A>T	p.Val154=	p.V154=	ENST00000354947		154	gtA/gtT	0	not done		synonymous	
CNGB1		inserm.fr	GRCh37	16	57991268	57991268	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1061T									Valid												ENST00000251102.8:c.851C>A	p.Pro284His	p.P284H	ENST00000251102	NM_001297.4	284	cCt/cAt	0	validated		probablydamaging	
DTX3		inserm.fr	GRCh37	12	58001289	58001289	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000548198.1:c.643C>T	p.Gln215Ter	p.Q215*	ENST00000548198		215	Cag/Tag	0	not done		damaging	
ZNF419		inserm.fr	GRCh37	19	58001528	58001528	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1183T																					ENST00000424930.2:c.47C>T	p.Ala16Val	p.A16V	ENST00000424930	NM_024691.3	16	gCa/gTa	0	validated		probablydamaging	
ARHGEF25		inserm.fr	GRCh37	12	58004388	58004388	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000333972.7:c.135C>T	p.Thr45=	p.T45=	ENST00000333972	NM_001111270.2	45	acC/acT	0	not done		synonymous	
ZNF419		inserm.fr	GRCh37	19	58004927	58004927	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2048T																					ENST00000424930.2:c.1005G>T	p.Gln335His	p.Q335H	ENST00000424930	NM_024691.3	335	caG/caT	0	not done		benign	
SLC26A10P		inserm.fr	GRCh37	12	58014159	58014159	+	synonymous_variant	Silent	SNP	G	T	T			CHC2099T																					ENST00000320442.4:c.156G>T	p.Pro52=	p.P52=	ENST00000320442	NM_133489.2	52	ccG/ccT	0	not done		synonymous	
MC4R		inserm.fr	GRCh37	18	58039311	58039311	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC197T									Valid												ENST00000299766.3:c.272T>A	p.Met91Lys	p.M91K	ENST00000299766	NM_005912.2	91	aTg/aAg	0	validated		probablydamaging	
CETN1		inserm.fr	GRCh37	18	580873	580873	+	synonymous_variant	Silent	SNP	C	T	T			CHC2103T																					ENST00000327228.3:c.465C>T	p.Gly155=	p.G155=	ENST00000327228	NM_004066.1	155	ggC/ggT	0	not done		synonymous	
EVC		inserm.fr	GRCh37	4	5811295	5811295	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000382674.2:c.2739C>T	p.Pro913=	p.P913=	ENST00000382674		913	ccC/ccT	0	not done		synonymous	
OS9		inserm.fr	GRCh37	12	58114633	58114633	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1603T																					ENST00000315970.7:c.1945C>T	p.Arg649Trp	p.R649W	ENST00000315970	NM_006812.3	649	Cgg/Tgg	0	not done		probablydamaging	
NLGN4X		inserm.fr	GRCh37	X	5811505	5811505	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000381095.3:c.1804G>A	p.Glu602Lys	p.E602K	ENST00000381095	NM_181332.1	602	Gag/Aag	0	not done		benign	
ZNF530		inserm.fr	GRCh37	19	58117672	58117672	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1566T																					ENST00000332854.6:c.779C>T	p.Ala260Val	p.A260V	ENST00000332854	NM_020880.3	260	gCa/gTa	0	not done		benign	
FLNB		inserm.fr	GRCh37	3	58134495	58134495	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM683T																					ENST00000490882.1:c.6100C>T	p.Arg2034Cys	p.R2034C	ENST00000490882	NM_001164317.1	2034	Cgc/Tgc	0	validated		probablydamaging	
PHACTR3		inserm.fr	GRCh37	20	58152604	58152604	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM275T																					ENST00000359926.3:c.41C>T	p.Pro14Leu	p.P14L	ENST00000359926	NM_001199505.1	14	cCc/cTc	0	validated			
OR5B3		inserm.fr	GRCh37	11	58170736	58170736	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000309403.2:c.147G>A	p.Trp49Ter	p.W49*	ENST00000309403	NM_001005469.1	49	tgG/tgA	0	not done		damaging	
DNASE1L3		inserm.fr	GRCh37	3	58183675	58183675	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000318316.3:c.577G>A	p.Gly193Ser	p.G193S	ENST00000318316		193	Ggc/Agc	0	not done		probablydamaging	
ZSCAN4		inserm.fr	GRCh37	19	58189405	58189405	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000318203.5:c.520C>T	p.Pro174Ser	p.P174S	ENST00000318203	NM_152677.2	174	Ccc/Tcc	0	not done		possiblydamaging	
ZSCAN4		inserm.fr	GRCh37	19	58189771	58189771	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1010T																					ENST00000318203.5:c.800C>T	p.Pro267Leu	p.P267L	ENST00000318203	NM_152677.2	267	cCt/cTt	0	not done		benign	
OR5B12		inserm.fr	GRCh37	11	58206902	58206902	+	synonymous_variant	Silent	SNP	G	T	T			CHC2098T																					ENST00000302572.2:c.723C>A	p.Ser241=	p.S241=	ENST00000302572	NM_001004733.2	241	tcC/tcA	0	not done		synonymous	
PCDH17		inserm.fr	GRCh37	13	58207019	58207019	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1531T																					ENST00000377918.3:c.339G>T	p.Lys113Asn	p.K113N	ENST00000377918	NM_001040429.2	113	aaG/aaT	0	not done		benign	
PCDH17		inserm.fr	GRCh37	13	58207854	58207854	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000377918.3:c.1174C>T	p.Leu392=	p.L392=	ENST00000377918	NM_001040429.2	392	Cta/Tta	0	not done		synonymous	
PCDH17		inserm.fr	GRCh37	13	58207973	58207973	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000377918.3:c.1293C>T	p.Asp431=	p.D431=	ENST00000377918	NM_001040429.2	431	gaC/gaT	0	not done		synonymous	
PCDH17		inserm.fr	GRCh37	13	58298918	58298918	+	synonymous_variant	Silent	SNP	G	T	T			CHC218T																					ENST00000377918.3:c.2970G>T	p.Val990=	p.V990=	ENST00000377918	NM_001040429.2	990	gtG/gtT	0	not done		synonymous	
ALDH1A2		inserm.fr	GRCh37	15	58306416	58306416	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000249750.4:c.181G>A	p.Ala61Thr	p.A61T	ENST00000249750	NM_003888.3	61	Gcc/Acc	0	not done		possiblydamaging	
SOX11		inserm.fr	GRCh37	2	5834148	5834148	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2200T																					ENST00000322002.3:c.1295C>T	p.Ala432Val	p.A432V	ENST00000322002	NM_003108.3	432	gCg/gTg	0	not done		probablydamaging	
PHACTR3		inserm.fr	GRCh37	20	58349374	58349374	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC121T									Valid												ENST00000371015.1:c.1003C>T	p.Arg335Trp	p.R335W	ENST00000371015	NM_080672.4	335	Cgg/Tgg	0	validated		probablydamaging	
PHACTR3		inserm.fr	GRCh37	20	58381124	58381124	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000371015.1:c.1203G>T	p.Glu401Asp	p.E401D	ENST00000371015	NM_080672.4	401	gaG/gaT	0	not done		benign	
PXK		inserm.fr	GRCh37	3	58385045	58385045	+	synonymous_variant	Silent	SNP	G	T	T			CHC2127T																					ENST00000356151.2:c.1122G>T	p.Thr374=	p.T374=	ENST00000356151	NM_017771.3	374	acG/acT	0	not done		synonymous	
PXK		inserm.fr	GRCh37	3	58395263	58395263	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2358T																					ENST00000356151.2:c.1313A>T	p.His438Leu	p.H438L	ENST00000356151	NM_017771.3	438	cAc/cTc	0	validated		possiblydamaging	
OR52N2		inserm.fr	GRCh37	11	5841997	5841997	+	synonymous_variant	Silent	SNP	C	T	T			CHC1629T																					ENST00000317037.2:c.432C>T	p.Ala144=	p.A144=	ENST00000317037	NM_001005174.1	144	gcC/gcT	0	not done		synonymous	
OR52N2		inserm.fr	GRCh37	11	5842237	5842237	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC320T																					ENST00000317037.2:c.672G>T	p.Leu224Phe	p.L224F	ENST00000317037	NM_001005174.1	224	ttG/ttT	0	validated		benign	
ZNF418		inserm.fr	GRCh37	19	58439001	58439001	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000396147.1:c.548G>A	p.Gly183Glu	p.G183E	ENST00000396147	NM_133460.1	183	gGg/gAg	0	not done		probablydamaging	
ZNF256		inserm.fr	GRCh37	19	58455429	58455429	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000282308.3:c.34-1G>A		p.X12_splice	ENST00000282308	NM_005773.2			0	not done		damaging	
CHCT1		inserm.fr	GRCh37	17	58508599	58508599	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000269127.4:c.683C>T	p.Ala228Val	p.A228V	ENST00000269127	NM_181707.2	228	gCc/gTc	0	not done		benign	
ZNF606		inserm.fr	GRCh37	19	58512096	58512096	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000341164.4:c.43G>A	p.Asp15Asn	p.D15N	ENST00000341164	NM_025027.3	15	Gac/Aac	0	not done		possiblydamaging	
FAM217B		inserm.fr	GRCh37	20	58520004	58520004	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC917T																					ENST00000358293.3:c.1006G>T	p.Ala336Ser	p.A336S	ENST00000358293	NM_001190826.1	336	Gca/Tca	0	validated		possiblydamaging	
NDRG4		inserm.fr	GRCh37	16	58540488	58540488	+	synonymous_variant	Silent	SNP	C	T	T			CHC313T																					ENST00000394282.4:c.642C>T	p.Pro214=	p.P214=	ENST00000394282	NM_001130487.1	214	ccC/ccT	0	validated		synonymous	
CDH26		inserm.fr	GRCh37	20	58545226	58545226	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000348616.4:c.216C>T	p.Pro72=	p.P72=	ENST00000348616	NM_177980.2	72	ccC/ccT	0	not done		synonymous	
ZSCAN1		inserm.fr	GRCh37	19	58549397	58549397	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1763T																					ENST00000282326.1:c.193C>T	p.Gln65Ter	p.Q65*	ENST00000282326	NM_182572.3	65	Cag/Tag	0	not done		damaging	
FAM107A		inserm.fr	GRCh37	3	58574964	58574964	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC465T																					ENST00000474531.1:c.57T>A	p.Ser19Arg	p.S19R	ENST00000474531	NM_001282714.1	19	agT/agA	0	validated			
ZNF135		inserm.fr	GRCh37	19	58578700	58578700	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000401053.4:c.920C>T	p.Ala307Val	p.A307V	ENST00000401053	NM_001164529.1	307	gCc/gTc	0	not done		benign	
ZSCAN18		inserm.fr	GRCh37	19	58596229	58596229	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM695T																					ENST00000600404.1:c.1524C>A	p.Phe508Leu	p.F508L	ENST00000600404	NM_001145542.1	508	ttC/ttA	0	validated		probablydamaging	
GLYATL2		inserm.fr	GRCh37	11	58604559	58604559	+	synonymous_variant	Silent	SNP	C	T	T			CHC801T																					ENST00000287275.1:c.405G>A	p.Pro135=	p.P135=	ENST00000287275	NM_145016.3	135	ccG/ccA	0	not done		synonymous	
GLYATL2		inserm.fr	GRCh37	11	58605757	58605757	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2127T																					ENST00000287275.1:c.163G>A	p.Val55Ile	p.V55I	ENST00000287275	NM_145016.3	55	Gtc/Atc	0	not done		possiblydamaging	
CNOT1		inserm.fr	GRCh37	16	58620548	58620548	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000317147.5:c.538G>A	p.Val180Ile	p.V180I	ENST00000317147	NM_016284.4	180	Gtc/Atc	0	not done		benign	
CNOT1		inserm.fr	GRCh37	16	58621772	58621772	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1185T																					ENST00000317147.5:c.221T>A	p.Leu74Gln	p.L74Q	ENST00000317147	NM_016284.4	74	cTg/cAg	0	not done		probablydamaging	
SLC38A7		inserm.fr	GRCh37	16	58705074	58705074	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000570101.1:c.1106G>A	p.Arg369Gln	p.R369Q	ENST00000570101		369	cGg/cAg	0	not done		probablydamaging	
SLC38A7		inserm.fr	GRCh37	16	58709897	58709897	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1594T																					ENST00000570101.1:c.830G>A	p.Gly277Asp	p.G277D	ENST00000570101		277	gGt/gAt	0	not done		probablydamaging	
ZNF544		inserm.fr	GRCh37	19	58772378	58772378	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000269829.4:c.406C>T	p.Gln136Ter	p.Q136*	ENST00000269829	NM_014480.2	136	Cag/Tag	0	not done		damaging	
OR52E8		inserm.fr	GRCh37	11	5878509	5878509	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1624T																					ENST00000537935.1:c.424C>A	p.Leu142Ile	p.L142I	ENST00000537935	NM_001005168.1	142	Ctc/Atc	0	validated		probablydamaging	
ARID4A		inserm.fr	GRCh37	14	58811413	58811413	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000355431.3:c.907C>T	p.Pro303Ser	p.P303S	ENST00000355431	NM_002892.3	303	Cct/Tct	0	not done		probablydamaging	
TMEM200C		inserm.fr	GRCh37	18	5890204	5890204	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000581347.2:c.1859G>A	p.Gly620Asp	p.G620D	ENST00000581347		620	gGc/gAc	0	not done		benign	
NDUFA11		inserm.fr	GRCh37	19	5893084	5893084	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000418389.2:c.531G>A	p.Gly177=	p.G177=	ENST00000418389	NM_001193375.1	177	ggG/ggA	0	not done		synonymous	
CRMP1		inserm.fr	GRCh37	4	5894503	5894503	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2206T																					ENST00000324989.7:c.194G>A	p.Arg65His	p.R65H	ENST00000324989	NM_001014809.1	65	cGc/cAc	0	not done		probablydamaging	
ZNF132		inserm.fr	GRCh37	19	58945799	58945799	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM735T																					ENST00000254166.3:c.1012C>A	p.Gln338Lys	p.Q338K	ENST00000254166	NM_003433.3	338	Cag/Aag	0	validated		possiblydamaging	
KIAA0586		inserm.fr	GRCh37	14	58949367	58949367	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1744T																					ENST00000354386.6:c.3240G>T	p.Lys1080Asn	p.K1080N	ENST00000354386	NM_001244189.1	1080	aaG/aaT	0	not done		probablydamaging	
KIAA0586		inserm.fr	GRCh37	14	58949388	58949388	+	synonymous_variant	Silent	SNP	A	T	T			BCM399T																					ENST00000354386.6:c.3261A>T	p.Thr1087=	p.T1087=	ENST00000354386	NM_001244189.1	1087	acA/acT	0	validated		synonymous	
NDUFA11		inserm.fr	GRCh37	19	5896543	5896543	+	synonymous_variant	Silent	SNP	G	T	T			CHC313T																					ENST00000418389.2:c.234C>A	p.Ala78=	p.A78=	ENST00000418389	NM_001193375.1	78	gcC/gcA	0	validated		synonymous	
MPEG1		inserm.fr	GRCh37	11	58978737	58978737	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM695T																					ENST00000361050.3:c.1602C>A	p.Cys534Ter	p.C534*	ENST00000361050	NM_001039396.1	534	tgC/tgA	0	validated		damaging	
ZNF324		inserm.fr	GRCh37	19	58983266	58983266	+	synonymous_variant	Silent	SNP	C	T	T			CHC2034T																					ENST00000536459.2:c.1407C>T	p.Leu469=	p.L469=	ENST00000536459		469	ctC/ctT	0	not done		synonymous	
CHGB		inserm.fr	GRCh37	20	5903193	5903193	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2200T																					ENST00000378961.4:c.403G>T	p.Asp135Tyr	p.D135Y	ENST00000378961	NM_001819.2	135	Gat/Tat	0	not done		possiblydamaging	
TACSTD2		inserm.fr	GRCh37	1	59042187	59042187	+	synonymous_variant	Silent	SNP	G	T	T			CHC301T																					ENST00000371225.2:c.642C>A	p.Ala214=	p.A214=	ENST00000371225	NM_002353.2	214	gcC/gcA	0	validated		synonymous	
OR52E4		inserm.fr	GRCh37	11	5905850	5905850	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC121T									Valid												ENST00000316987.2:c.328A>T	p.Thr110Ser	p.T110S	ENST00000316987	NM_001005165.1	110	Aca/Tca	0	validated		benign	
TRIM28		inserm.fr	GRCh37	19	59058766	59058766	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC801T																					ENST00000253024.5:c.610G>T	p.Glu204Ter	p.E204*	ENST00000253024	NM_005762.2	204	Gaa/Taa	0	not done		damaging	
TRIM28		inserm.fr	GRCh37	19	59059451	59059451	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1731T																					ENST00000253024.5:c.1005G>T	p.Met335Ile	p.M335I	ENST00000253024	NM_005762.2	335	atG/atT	0	not done		benign	
MLANA		inserm.fr	GRCh37	9	5906938	5906938	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC306T																					ENST00000381477.3:c.228A>T	p.Gln76His	p.Q76H	ENST00000381477	NM_005511.1	76	caA/caT	0	validated		benign	
MZF1		inserm.fr	GRCh37	19	59074370	59074370	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000215057.2:c.1274C>A	p.Ala425Glu	p.A425E	ENST00000215057	NM_001267033.1	425	gCg/gAg	0	not done		benign	
MZF1		inserm.fr	GRCh37	19	59074373	59074373	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC301T									Valid												ENST00000215057.2:c.1271G>A	p.Ser424Asn	p.S424N	ENST00000215057	NM_001267033.1	424	aGc/aAc	0	validated		probablydamaging	
DACT1		inserm.fr	GRCh37	14	59113612	59113612	+	synonymous_variant	Silent	SNP	C	T	T			CHC879T																					ENST00000335867.4:c.2271C>T	p.Ser757=	p.S757=	ENST00000335867		757	agC/agT	0	not done		synonymous	
FAM63B		inserm.fr	GRCh37	15	59114015	59114015	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC429T									Valid												ENST00000559228.1:c.1222G>T	p.Glu408Ter	p.E408*	ENST00000559228		408	Gaa/Taa	0	validated		damaging	
CDH20		inserm.fr	GRCh37	18	59167725	59167725	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000262717.4:c.651C>T	p.Asp217=	p.D217=	ENST00000262717		217	gaC/gaT	0	validated		synonymous	
PDE4D		inserm.fr	GRCh37	5	59189183	59189183	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000340635.6:c.267G>A	p.Gly89=	p.G89=	ENST00000340635	NM_001104631.1	89	ggG/ggA	0	not done		synonymous	
CDH20		inserm.fr	GRCh37	18	59195238	59195238	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM439T																					ENST00000262717.4:c.1056G>T	p.Lys352Asn	p.K352N	ENST00000262717		352	aaG/aaT	0	validated		probablydamaging	
KIAA2026		inserm.fr	GRCh37	9	5920871	5920871	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000399933.3:c.5125G>A	p.Ala1709Thr	p.A1709T	ENST00000399933	NM_001017969.2	1709	Gct/Act	0	not done		probablydamaging	
SLTM		inserm.fr	GRCh37	15	59209198	59209198	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000380516.2:c.251G>A	p.Gly84Asp	p.G84D	ENST00000380516	NM_001013843.1	84	gGt/gAt	0	not done		probablydamaging	
CDH20		inserm.fr	GRCh37	18	59217211	59217211	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	T	T			BCM375T									Valid												ENST00000262717.4:c.1649A>T	p.Asp550Val	p.D550V	ENST00000262717		550	gAt/gTt	0	validated		probablydamaging	
CDH20		inserm.fr	GRCh37	18	59221517	59221517	+	synonymous_variant	Silent	SNP	C	T	T			CHC909T																					ENST00000262717.4:c.1995C>T	p.Tyr665=	p.Y665=	ENST00000262717		665	taC/taT	0	not done		synonymous	
OR4D6		inserm.fr	GRCh37	11	59224862	59224862	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000300127.2:c.429C>T	p.Ala143=	p.A143=	ENST00000300127	NM_001004708.1	143	gcC/gcT	0	not done		synonymous	
OR4D6		inserm.fr	GRCh37	11	59225238	59225238	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2048T																					ENST00000300127.2:c.805A>T	p.Thr269Ser	p.T269S	ENST00000300127	NM_001004708.1	269	Aca/Tca	0	not done		probablydamaging	
KIAA2026		inserm.fr	GRCh37	9	5922992	5922992	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000399933.3:c.3004G>A	p.Gly1002Arg	p.G1002R	ENST00000399933	NM_001017969.2	1002	Ggg/Agg	0	not done		probablydamaging	
OR4D10		inserm.fr	GRCh37	11	59245578	59245578	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			BCM695T									Valid												ENST00000530162.1:c.676A>T	p.Lys226Ter	p.K226*	ENST00000530162	NM_001004705.1	226	Aag/Tag	0	validated		damaging	
TRMT6		inserm.fr	GRCh37	20	5925549	5925549	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000203001.2:c.268G>A	p.Ala90Thr	p.A90T	ENST00000203001	NM_001281467.1	90	Gcg/Acg	0	not done		possiblydamaging	
PDE4D		inserm.fr	GRCh37	5	59284487	59284487	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000502484.2:c.100G>A	p.Glu34Lys	p.E34K	ENST00000502484	NM_001165899.1	34	Gaa/Aaa	0	not done			
UBXN2B		inserm.fr	GRCh37	8	59345770	59345770	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCB325T									Valid												ENST00000399598.2:c.391G>T	p.Glu131Ter	p.E131*	ENST00000399598	NM_001077619.1	131	Gaa/Taa	0	validated		damaging	
RNF111		inserm.fr	GRCh37	15	59347941	59347941	+	synonymous_variant	Silent	SNP	A	T	T			CHC218T																					ENST00000559209.1:c.1068A>T	p.Ala356=	p.A356=	ENST00000559209		356	gcA/gcT	0	not done		synonymous	
CYP7A1		inserm.fr	GRCh37	8	59407138	59407138	+	synonymous_variant	Silent	SNP	A	T	T			BCM339T																					ENST00000301645.3:c.966T>A	p.Ala322=	p.A322=	ENST00000301645	NM_000780.3	322	gcT/gcA	0	validated		synonymous	
CYP7A1		inserm.fr	GRCh37	8	59409342	59409342	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000301645.3:c.729G>A	p.Arg243=	p.R243=	ENST00000301645	NM_000780.3	243	agG/agA	0	not done		synonymous	
TBX4		inserm.fr	GRCh37	17	59543205	59543205	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC121T									Valid												ENST00000240335.1:c.307A>T	p.Lys103Ter	p.K103*	ENST00000240335	NM_018488.2	103	Aaa/Taa	0	validated		damaging	
TBX4		inserm.fr	GRCh37	17	59556037	59556037	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2052T																					ENST00000240335.1:c.599A>T	p.Lys200Met	p.K200M	ENST00000240335	NM_018488.2	200	aAg/aTg	0	not done		probablydamaging	
TBX4		inserm.fr	GRCh37	17	59557241	59557241	+	splice_acceptor_variant	Splice_Site	SNP	G	T	T			CHC307T									Valid												ENST00000240335.1:c.703-1G>T		p.X235_splice	ENST00000240335	NM_018488.2			0	validated		damaging	
C4orf50		inserm.fr	GRCh37	4	5961330	5961330	+	synonymous_variant	Silent	SNP	C	T	T			CHC1704T																					ENST00000531445.1:c.2025G>A	p.Thr675=	p.T675=	ENST00000531445		675	acG/acA	0	not done		synonymous	
MCM8		inserm.fr	GRCh37	20	5965506	5965506	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2052T																					ENST00000378896.3:c.1813C>T	p.Leu605Phe	p.L605F	ENST00000378896	NM_001281520.1	605	Ctc/Ttc	0	not done		probablydamaging	
OR56A3		inserm.fr	GRCh37	11	5968822	5968822	+	synonymous_variant	Silent	SNP	C	T	T			BCM397T																					ENST00000329564.6:c.246C>T	p.Ile82=	p.I82=	ENST00000329564	NM_001003443.2	82	atC/atT	0	validated		synonymous	
SOLH		inserm.fr	GRCh37	16	597059	597059	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC301T																					ENST00000219611.2:c.221C>T	p.Ala74Val	p.A74V	ENST00000219611	NM_005632.2	74	gCg/gTg	0	validated		benign	
TOX		inserm.fr	GRCh37	8	59728076	59728076	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB111T									Valid												ENST00000361421.1:c.1213C>A	p.Pro405Thr	p.P405T	ENST00000361421	NM_014729.2	405	Cca/Aca	0	validated		possiblydamaging	
CAPN15		inserm.fr	GRCh37	16	597691	597691	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1743T																					ENST00000219611.2:c.853C>T	p.Arg285Cys	p.R285C	ENST00000219611	NM_005632.2	285	Cgc/Tgc	0	not done		probablydamaging	
MS4A2		inserm.fr	GRCh37	11	59857215	59857215	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC451T																					ENST00000278888.3:c.107G>T	p.Gly36Val	p.G36V	ENST00000278888	NM_000139.4	36	gGc/gTc	0	validated		possiblydamaging	
OR56A5		inserm.fr	GRCh37	11	5989023	5989023	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC892T																					ENST00000532411.1:n.702G>A		*234*	ENST00000532411				0	not done		synonymous	
C4orf50		inserm.fr	GRCh37	4	5991059	5991059	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000531445.1:c.440G>A	p.Ser147Asn	p.S147N	ENST00000531445		147	aGc/aAc	0	not done			
C4orf50		inserm.fr	GRCh37	4	5991132	5991132	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000531445.1:c.367G>A	p.Gly123Arg	p.G123R	ENST00000531445		123	Gga/Aga	0	not done			
CCDC175		inserm.fr	GRCh37	14	59977385	59977385	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1081T																					ENST00000537690.2:c.2284G>A	p.Glu762Lys	p.E762K	ENST00000537690	NM_001164399.1	762	Gaa/Aaa	0	validated			
BNIP2		inserm.fr	GRCh37	15	59981470	59981470	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1746T																					ENST00000267859.3:c.170G>A	p.Gly57Glu	p.G57E	ENST00000267859		57	gGg/gAg	0	not done			
MED13		inserm.fr	GRCh37	17	60032909	60032909	+	synonymous_variant	Silent	SNP	A	T	T			BCB167T																					ENST00000397786.2:c.5802T>A	p.Ser1934=	p.S1934=	ENST00000397786	NM_005121.2	1934	tcT/tcA	0	validated		synonymous	
TNFRSF11A		inserm.fr	GRCh37	18	60052057	60052057	+	synonymous_variant	Silent	SNP	C	T	T			BCB301T																					ENST00000586569.1:c.1641C>T	p.Ile547=	p.I547=	ENST00000586569	NM_001278268.1	547	atC/atT	0	validated		synonymous	
MED13		inserm.fr	GRCh37	17	60069933	60069933	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1600T																					ENST00000397786.2:c.2231C>A	p.Ala744Asp	p.A744D	ENST00000397786	NM_005121.2	744	gCt/gAt	0	validated		possiblydamaging	
MED13		inserm.fr	GRCh37	17	60072512	60072512	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000397786.2:c.2181+1G>A		p.X727_splice	ENST00000397786	NM_005121.2			0	not done		damaging	
MS4A4A		inserm.fr	GRCh37	11	60073667	60073667	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000337908.4:c.641C>T	p.Pro214Leu	p.P214L	ENST00000337908	NM_148975.2	214	cCt/cTt	0	not done		possiblydamaging	
FGGY		inserm.fr	GRCh37	1	60106979	60106979	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000371218.4:c.1249G>T	p.Ala417Ser	p.A417S	ENST00000371218	NM_001113411.1	417	Gct/Tct	0	not done		benign	
FGGY		inserm.fr	GRCh37	1	60139711	60139711	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000371218.4:c.1490G>T	p.Gly497Val	p.G497V	ENST00000371218	NM_001113411.1	497	gGc/gTc	0	not done		probablydamaging	
MS4A14		inserm.fr	GRCh37	11	60183573	60183573	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC2103T																					ENST00000531783.1:c.1231C>T	p.Gln411Ter	p.Q411*	ENST00000531783	NM_001261828.1	411	Caa/Taa	0	not done		damaging	
RTN1		inserm.fr	GRCh37	14	60194001	60194001	+	synonymous_variant	Silent	SNP	G	T	T			CHC1749T																					ENST00000267484.5:c.1401C>A	p.Ile467=	p.I467=	ENST00000267484	NM_021136.2	467	atC/atA	0	not done		synonymous	
MS4A5		inserm.fr	GRCh37	11	60198339	60198339	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC437T																					ENST00000300190.2:c.224C>T	p.Pro75Leu	p.P75L	ENST00000300190	NM_023945.2	75	cCa/cTa	0	not done		probablydamaging	
RTN1		inserm.fr	GRCh37	14	60213173	60213173	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000267484.5:c.268G>A	p.Asp90Asn	p.D90N	ENST00000267484	NM_021136.2	90	Gac/Aac	0	not done		probablydamaging	
WSCD1		inserm.fr	GRCh37	17	6023841	6023841	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1053T																					ENST00000574946.1:c.1588C>T	p.Arg530Trp	p.R530W	ENST00000574946		530	Cgg/Tgg	0	validated		probablydamaging	
ZCCHC2		inserm.fr	GRCh37	18	60242500	60242500	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM321T																					ENST00000269499.5:c.3186A>T	p.Gln1062His	p.Q1062H	ENST00000269499	NM_017742.4	1062	caA/caT	0	validated		probablydamaging	
MS4A12		inserm.fr	GRCh37	11	60268656	60268656	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC327T									Valid												ENST00000016913.4:c.414+1G>T		p.X138_splice	ENST00000016913	NM_017716.2			0	validated		possiblydamaging	
SOLH		inserm.fr	GRCh37	16	602925	602925	+	synonymous_variant	Silent	SNP	G	T	T			CHC889T																					ENST00000219611.2:c.2967G>T	p.Val989=	p.V989=	ENST00000219611	NM_005632.2	989	gtG/gtT	0	not done		synonymous	
SOLH		inserm.fr	GRCh37	16	602926	602926	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC889T																					ENST00000219611.2:c.2968G>T	p.Glu990Ter	p.E990*	ENST00000219611	NM_005632.2	990	Gag/Tag	0	not done		damaging	
CDH4		inserm.fr	GRCh37	20	60348193	60348193	+	synonymous_variant	Silent	SNP	C	T	T			CHC736T																					ENST00000360469.5:c.531C>T	p.Asn177=	p.N177=	ENST00000360469	NM_001794.3	177	aaC/aaT	0	validated		synonymous	
PHLPP1		inserm.fr	GRCh37	18	60384117	60384117	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC437T																					ENST00000262719.5:c.1201G>T	p.Ala401Ser	p.A401S	ENST00000262719		401	Gcg/Tcg	0	validated			
RFX2		inserm.fr	GRCh37	19	6040009	6040009	+	synonymous_variant	Silent	SNP	G	T	T			CHC1035T																					ENST00000303657.5:c.504C>A	p.Ser168=	p.S168=	ENST00000303657	NM_000635.3	168	tcC/tcA	0	validated		synonymous	
CDH4		inserm.fr	GRCh37	20	60419819	60419819	+	synonymous_variant	Silent	SNP	C	T	T			CHC432T																					ENST00000360469.5:c.672C>T	p.Ser224=	p.S224=	ENST00000360469	NM_001794.3	224	tcC/tcT	0	not done		synonymous	
DIAPH3		inserm.fr	GRCh37	13	60435576	60435576	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T									Valid												ENST00000400324.4:c.2702T>A	p.Val901Glu	p.V901E	ENST00000400324	NM_001042517.1	901	gTg/gAg	0	validated		probablydamaging	
C1orf87		inserm.fr	GRCh37	1	60466748	60466748	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000371201.3:c.1272+1G>A		p.X424_splice	ENST00000371201	NM_152377.2			0	not done		damaging	
C1orf87		inserm.fr	GRCh37	1	60476122	60476122	+	synonymous_variant	Silent	SNP	C	T	T			CHC429T																					ENST00000371201.3:c.1134G>A	p.Gln378=	p.Q378=	ENST00000371201	NM_152377.2	378	caG/caA	0	validated		synonymous	
CDH4		inserm.fr	GRCh37	20	60498571	60498571	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000360469.5:c.1437C>T	p.Pro479=	p.P479=	ENST00000360469	NM_001794.3	479	ccC/ccT	0	not done		synonymous	
C1orf87		inserm.fr	GRCh37	1	60499239	60499239	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1629T																					ENST00000371201.3:c.938G>A	p.Arg313Lys	p.R313K	ENST00000371201	NM_152377.2	313	aGg/aAg	0	not done		probablydamaging	
CDH4		inserm.fr	GRCh37	20	60503285	60503285	+	synonymous_variant	Silent	SNP	C	T	T			BCM783T																					ENST00000360469.5:c.1809C>T	p.Ile603=	p.I603=	ENST00000360469	NM_001794.3	603	atC/atT	0	validated		synonymous	
CDH4		inserm.fr	GRCh37	20	60509174	60509174	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000360469.5:c.2440C>T	p.Pro814Ser	p.P814S	ENST00000360469	NM_001794.3	814	Cct/Tct	0	not done		benign	
CDH4		inserm.fr	GRCh37	20	60511951	60511951	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000360469.5:c.2701C>T	p.Pro901Ser	p.P901S	ENST00000360469	NM_001794.3	901	Ccc/Tcc	0	not done		probablydamaging	
PHRF1		inserm.fr	GRCh37	11	605169	605169	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2113T																					ENST00000416188.2:c.1203G>T	p.Arg401Ser	p.R401S	ENST00000416188		401	agG/agT	0	not done		benign	
MS4A10		inserm.fr	GRCh37	11	60557885	60557885	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC798T									Valid												ENST00000308287.1:c.77A>T	p.Gln26Leu	p.Q26L	ENST00000308287	NM_206893.3	26	cAg/cTg	0	validated		probablydamaging	
PHLPP1		inserm.fr	GRCh37	18	60562346	60562346	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000262719.5:c.2169C>T	p.Cys723=	p.C723=	ENST00000262719		723	tgC/tgT	0	not done		synonymous	
BICC1		inserm.fr	GRCh37	10	60562945	60562945	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000373886.3:c.2124C>T	p.Ala708=	p.A708=	ENST00000373886	NM_001080512.1	708	gcC/gcT	0	not done		synonymous	
PCNXL4		inserm.fr	GRCh37	14	60582076	60582076	+	synonymous_variant	Silent	SNP	A	T	T			BCM371T																					ENST00000317623.4:c.552A>T	p.Arg184=	p.R184=	ENST00000317623	NM_022495.5	184	cgA/cgT	0	validated		synonymous	
PTGDR2		inserm.fr	GRCh37	11	60620651	60620651	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM529T																					ENST00000332539.4:c.545G>A	p.Cys182Tyr	p.C182Y	ENST00000332539	NM_004778.2	182	tGc/tAc	0	validated		probablydamaging	
JAKMIP1		inserm.fr	GRCh37	4	6062153	6062153	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC155T																					ENST00000409021.3:c.1642C>A	p.Gln548Lys	p.Q548K	ENST00000409021	NM_001099433.1	548	Cag/Aag	0	validated		possiblydamaging	
ZP1		inserm.fr	GRCh37	11	60637192	60637192	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000278853.5:c.501C>T	p.Thr167=	p.T167=	ENST00000278853	NM_207341.2	167	acC/acT	0	not done		synonymous	
PHRF1		inserm.fr	GRCh37	11	606595	606595	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	T	T			CHC1756T																					ENST00000416188.2:c.1605G>T	p.Ala535=	p.A535=	ENST00000416188		535	gcG/gcT	0	not done		damaging	
PRPF19		inserm.fr	GRCh37	11	60666065	60666065	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1191T																					ENST00000227524.4:c.1088T>A	p.Leu363His	p.L363H	ENST00000227524	NM_014502.4	363	cTc/cAc	0	not done		possiblydamaging	
PRPF19		inserm.fr	GRCh37	11	60671200	60671200	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000227524.4:c.153G>A	p.Gln51=	p.Q51=	ENST00000227524	NM_014502.4	51	caG/caA	0	not done		synonymous	
TLK2		inserm.fr	GRCh37	17	60689871	60689871	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM423T																					ENST00000346027.5:c.2198C>T	p.Ala733Val	p.A733V	ENST00000346027	NM_006852.3	733	gCt/gTt	0	validated		probablydamaging	
NLGN4X		inserm.fr	GRCh37	X	6069144	6069144	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC322T																					ENST00000381095.3:c.364G>A	p.Asp122Asn	p.D122N	ENST00000381095	NM_181332.1	122	Gac/Aac	0	validated		benign	
DIAPH3		inserm.fr	GRCh37	13	60737796	60737796	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000400324.4:c.105G>A	p.Met35Ile	p.M35I	ENST00000400324	NM_001042517.1	35	atG/atA	0	not done		benign	
MRC2		inserm.fr	GRCh37	17	60749438	60749438	+	synonymous_variant	Silent	SNP	C	T	T			BCM337T																					ENST00000303375.5:c.1386C>T	p.Ser462=	p.S462=	ENST00000303375	NM_006039.4	462	agC/agT	0	validated		synonymous	
MRC2		inserm.fr	GRCh37	17	60757563	60757563	+	synonymous_variant	Silent	SNP	C	T	T			CHC1750T																					ENST00000303375.5:c.2331C>T	p.His777=	p.H777=	ENST00000303375	NM_006039.4	777	caC/caT	0	not done		synonymous	
MRC2		inserm.fr	GRCh37	17	60767111	60767111	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1154T																					ENST00000303375.5:c.3563C>T	p.Ala1188Val	p.A1188V	ENST00000303375	NM_006039.4	1188	gCt/gTt	0	not done		benign	
MRC2		inserm.fr	GRCh37	17	60767585	60767585	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM723T																					ENST00000303375.5:c.3811A>T	p.Ile1271Phe	p.I1271F	ENST00000303375	NM_006039.4	1271	Att/Ttt	0	validated		probablydamaging	
PHRF1		inserm.fr	GRCh37	11	607688	607688	+	synonymous_variant	Silent	SNP	C	T	T			BCM683T																					ENST00000416188.2:c.2229C>T	p.His743=	p.H743=	ENST00000416188		743	caC/caT	0	validated		synonymous	
HRH3		inserm.fr	GRCh37	20	60794956	60794956	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000340177.5:c.71G>A	p.Gly24Asp	p.G24D	ENST00000340177	NM_007232.2	24	gGc/gAc	0	not done		benign	
MARCH10		inserm.fr	GRCh37	17	60813451	60813451	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000311269.5:c.1778G>A	p.Gly593Glu	p.G593E	ENST00000311269	NM_152598.2	593	gGg/gAg	0	not done		benign	
ADRM1		inserm.fr	GRCh37	20	60878642	60878642	+	synonymous_variant	Silent	SNP	G	T	T			CHC1754T																					ENST00000253003.2:c.18G>T	p.Ala6=	p.A6=	ENST00000253003	NM_175573.2	6	gcG/gcT	0	not done		synonymous	
CD5		inserm.fr	GRCh37	11	60882538	60882538	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000347785.3:c.66C>T	p.Cys22=	p.C22=	ENST00000347785	NM_014207.3	22	tgC/tgT	0	not done		synonymous	
LAMA5		inserm.fr	GRCh37	20	60889427	60889427	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000252999.3:c.8437G>A	p.Ala2813Thr	p.A2813T	ENST00000252999	NM_005560.4	2813	Gcg/Acg	0	not done		probablydamaging	
LAMA5		inserm.fr	GRCh37	20	60899175	60899175	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000252999.3:c.5729G>A	p.Cys1910Tyr	p.C1910Y	ENST00000252999	NM_005560.4	1910	tGt/tAt	0	not done		probablydamaging	
LAMA5		inserm.fr	GRCh37	20	60905900	60905900	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM683T																					ENST00000252999.3:c.3751G>A	p.Ala1251Thr	p.A1251T	ENST00000252999	NM_005560.4	1251	Gcg/Acg	0	validated		possiblydamaging	
LAMA5		inserm.fr	GRCh37	20	60908740	60908740	+	synonymous_variant	Silent	SNP	C	T	T			CHC1209T																					ENST00000252999.3:c.2901G>A	p.Val967=	p.V967=	ENST00000252999	NM_005560.4	967	gtG/gtA	0	not done		synonymous	
LAMA5		inserm.fr	GRCh37	20	60909025	60909025	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000252999.3:c.2810G>A	p.Arg937Gln	p.R937Q	ENST00000252999	NM_005560.4	937	cGg/cAg	0	validated		probablydamaging	
LAMA5		inserm.fr	GRCh37	20	60909045	60909045	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000252999.3:c.2790C>A	p.Leu930=	p.L930=	ENST00000252999	NM_005560.4	930	ctC/ctA	0	validated		synonymous	
C14orf39		inserm.fr	GRCh37	14	60936317	60936317	+	synonymous_variant	Silent	SNP	G	T	T			CHC304T																					ENST00000321731.3:c.609C>A	p.Thr203=	p.T203=	ENST00000321731	NM_174978.2	203	acC/acA	0	validated		synonymous	
VWF		inserm.fr	GRCh37	12	6094249	6094249	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2200T																					ENST00000261405.5:c.6938G>A	p.Arg2313His	p.R2313H	ENST00000261405	NM_000552.3	2313	cGc/cAc	0	not done		probablydamaging	
RBBP8NL		inserm.fr	GRCh37	20	60987715	60987715	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000252998.1:c.1841G>A	p.Arg614Gln	p.R614Q	ENST00000252998	NM_080833.2	614	cGg/cAg	0	not done		benign	
FERMT1		inserm.fr	GRCh37	20	6100076	6100076	+	synonymous_variant	Silent	SNP	C	T	T			CHC801T																					ENST00000217289.4:c.126G>A	p.Val42=	p.V42=	ENST00000217289	NM_017671.4	42	gtG/gtA	0	not done		synonymous	
PHYHIPL		inserm.fr	GRCh37	10	61004834	61004834	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC434T																					ENST00000373880.4:c.614C>T	p.Ala205Val	p.A205V	ENST00000373880	NM_032439.3	205	gCt/gTt	0	validated		benign	
KDSR		inserm.fr	GRCh37	18	61030094	61030094	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC898T																					ENST00000406396.3:c.116G>A	p.Gly39Glu	p.G39E	ENST00000406396	NM_002035.2	39	gGa/gAa	0	not done		probablydamaging	
VWCE		inserm.fr	GRCh37	11	61032617	61032617	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000335613.5:c.2033G>A	p.Gly678Glu	p.G678E	ENST00000335613	NM_152718.2	678	gGg/gAg	0	not done		probablydamaging	
IL2RA		inserm.fr	GRCh37	10	6104085	6104085	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000379959.3:c.30G>A	p.Leu10=	p.L10=	ENST00000379959	NM_000417.2	10	ctG/ctA	0	not done		synonymous	
VWCE		inserm.fr	GRCh37	11	61048446	61048446	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1743T																					ENST00000335613.5:c.1049T>A	p.Leu350Gln	p.L350Q	ENST00000335613	NM_152718.2	350	cTg/cAg	0	not done		benign	
GATA5		inserm.fr	GRCh37	20	61050065	61050065	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000252997.2:c.513G>A	p.Arg171=	p.R171=	ENST00000252997	NM_080473.4	171	agG/agA	0	not done		synonymous	
DDB1		inserm.fr	GRCh37	11	61091474	61091474	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1137T																					ENST00000301764.7:c.898C>A	p.Leu300Ile	p.L300I	ENST00000301764	NM_001923.4	300	Ctc/Atc	0	not done		benign	
DAK		inserm.fr	GRCh37	11	61110308	61110308	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1624T																					ENST00000394900.3:c.857G>T	p.Arg286Leu	p.R286L	ENST00000394900	NM_015533.3	286	cGc/cTc	0	validated		benign	
DAK		inserm.fr	GRCh37	11	61110309	61110309	+	synonymous_variant	Silent	SNP	C	T	T			CHC1624T																					ENST00000394900.3:c.858C>T	p.Arg286=	p.R286=	ENST00000394900	NM_015533.3	286	cgC/cgT	0	validated		synonymous	
SIX1		inserm.fr	GRCh37	14	61115346	61115346	+	splice_donor_variant	Splice_Site	SNP	A	T	T			CHC1035T									Valid												ENST00000247182.6:c.560+2T>A		p.X187_splice	ENST00000247182	NM_005982.3			0	validated		damaging	
FAM13C		inserm.fr	GRCh37	10	61115669	61115669	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC923T																					ENST00000373868.2:c.97C>A	p.Gln33Lys	p.Q33K	ENST00000373868	NM_198215.3	33	Cag/Aag	0	not done		benign	
SIX1		inserm.fr	GRCh37	14	61115865	61115865	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC799T																					ENST00000247182.6:c.43G>A	p.Ala15Thr	p.A15T	ENST00000247182	NM_005982.3	15	Gcg/Acg	0	not done		possiblydamaging	
KCNAB2		inserm.fr	GRCh37	1	6111721	6111721	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2216T																					ENST00000378083.3:c.125C>T	p.Ala42Val	p.A42V	ENST00000378083	NM_001199862.1	42	gCg/gTg	0	validated			
TDRD3		inserm.fr	GRCh37	13	61141705	61141705	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2110Tbis																					ENST00000535286.1:c.2165G>T	p.Gly722Val	p.G722V	ENST00000535286	NM_001146070.1	722	gGt/gTt	0	not done		probablydamaging	
SERPINB5		inserm.fr	GRCh37	18	61166391	61166391	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000382771.4:c.606C>T	p.Ala202=	p.A202=	ENST00000382771	NM_002639.4	202	gcC/gcT	0	not done		synonymous	
SIX4		inserm.fr	GRCh37	14	61190676	61190676	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000216513.4:c.117G>A	p.Ala39=	p.A39=	ENST00000216513	NM_017420.4	39	gcG/gcA	0	not done		synonymous	
VWF		inserm.fr	GRCh37	12	6125739	6125739	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261405.5:c.5254G>A	p.Ala1752Thr	p.A1752T	ENST00000261405	NM_000552.3	1752	Gcc/Acc	0	not done		benign	
SLCO4A1		inserm.fr	GRCh37	20	61287816	61287816	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000217159.1:c.10C>T	p.His4Tyr	p.H4Y	ENST00000217159	NM_016354.3	4	Cat/Tat	0	not done		probablydamaging	
SERPINB3		inserm.fr	GRCh37	18	61322894	61322894	+	synonymous_variant	Silent	SNP	C	T	T			CHC2128T																					ENST00000283752.5:c.1170G>A	p.Pro390=	p.P390=	ENST00000283752	NM_006919.2	390	ccG/ccA	0	not done		synonymous	
SERPINB3		inserm.fr	GRCh37	18	61322922	61322922	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1201T																					ENST00000283752.5:c.1142T>A	p.Ile381Asn	p.I381N	ENST00000283752	NM_006919.2	381	aTc/aAc	0	not done		probablydamaging	
SERPINB3		inserm.fr	GRCh37	18	61325786	61325786	+	synonymous_variant	Silent	SNP	G	T	T			CHC1751T																					ENST00000283752.5:c.430C>A	p.Arg144=	p.R144=	ENST00000283752	NM_006919.2	144	Cga/Aga	0	not done		synonymous	
SERPINB3		inserm.fr	GRCh37	18	61325816	61325816	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1083T																					ENST00000283752.5:c.400G>A	p.Val134Ile	p.V134I	ENST00000283752	NM_006919.2	134	Gtt/Att	0	validated		benign	
SERPINB11		inserm.fr	GRCh37	18	61390567	61390567	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000544088.1:c.1113C>T	p.Phe371=	p.F371=	ENST00000544088	NM_080475.2	371	ttC/ttT	0	not done		synonymous	
NTSR1		inserm.fr	GRCh37	20	61391448	61391448	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000370501.3:c.1086C>T	p.Ile362=	p.I362=	ENST00000370501	NM_002531.2	362	atC/atT	0	not done		synonymous	
NTSR1		inserm.fr	GRCh37	20	61391488	61391488	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000370501.3:c.1126C>T	p.Leu376=	p.L376=	ENST00000370501	NM_002531.2	376	Ctg/Ttg	0	not done		synonymous	
USP34		inserm.fr	GRCh37	2	61415456	61415456	+	synonymous_variant	Silent	SNP	A	T	T			CHC1028T																					ENST00000398571.2:c.10422T>A	p.Ser3474=	p.S3474=	ENST00000398571	NM_014709.3	3474	tcT/tcA	0	not done		synonymous	
TANC2		inserm.fr	GRCh37	17	61432501	61432501	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1736T																					ENST00000424789.2:c.2110G>T	p.Val704Leu	p.V704L	ENST00000424789	NM_025185.3	704	Gtg/Ttg	0	not done		benign	
SERPINB7		inserm.fr	GRCh37	18	61471865	61471865	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2362T																					ENST00000398019.2:c.1139C>T	p.Pro380Leu	p.P380L	ENST00000398019	NM_003784.3	380	cCt/cTt	0	validated		probablydamaging	
KCNAB2		inserm.fr	GRCh37	1	6147528	6147528	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC789T																					ENST00000378083.3:c.427C>T	p.Arg143Trp	p.R143W	ENST00000378083	NM_001199862.1	143	Cgg/Tgg	0	not done		probablydamaging	
C16orf11		inserm.fr	GRCh37	16	614754	614754	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000409413.3:c.1163C>T	p.Pro388Leu	p.P388L	ENST00000409413	NM_145270.2	388	cCc/cTc	0	not done		benign	
TANC2		inserm.fr	GRCh37	17	61498195	61498195	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1708T																					ENST00000424789.2:c.4852C>T	p.Pro1618Ser	p.P1618S	ENST00000424789	NM_025185.3	1618	Ccc/Tcc	0	not done		probablydamaging	
C16orf11		inserm.fr	GRCh37	16	615021	615021	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000409413.3:c.1430C>T	p.Pro477Leu	p.P477L	ENST00000409413	NM_145270.2	477	cCc/cTc	0	not done		benign	
DIDO1		inserm.fr	GRCh37	20	61512727	61512727	+	synonymous_variant	Silent	SNP	C	T	T			BCM339T																					ENST00000266070.4:c.4581G>A	p.Ser1527=	p.S1527=	ENST00000266070	NM_033081.2	1527	tcG/tcA	0	validated		synonymous	
IRF7		inserm.fr	GRCh37	11	615265	615265	+	synonymous_variant	Silent	SNP	G	T	T			CHC1041T																					ENST00000397566.1:c.54C>A	p.Thr18=	p.T18=	ENST00000397566	NM_004031.2	18	acC/acA	0	validated		synonymous	
DIDO1		inserm.fr	GRCh37	20	61537349	61537349	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000266070.4:c.1478G>A	p.Gly493Glu	p.G493E	ENST00000266070	NM_033081.2	493	gGg/gAg	0	not done		possiblydamaging	
MYRF		inserm.fr	GRCh37	11	61537761	61537761	+	synonymous_variant	Silent	SNP	C	T	T			CHC155T																					ENST00000278836.5:c.504C>T	p.His168=	p.H168=	ENST00000278836	NM_001127392.1	168	caC/caT	0	validated		synonymous	
MYRF		inserm.fr	GRCh37	11	61539389	61539389	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2213T																					ENST00000278836.5:c.1080G>T	p.Lys360Asn	p.K360N	ENST00000278836	NM_001127392.1	360	aaG/aaT	0	not done		benign	
MYRF		inserm.fr	GRCh37	11	61545920	61545920	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM531T																					ENST00000278836.5:c.1972G>T	p.Ala658Ser	p.A658S	ENST00000278836	NM_001127392.1	658	Gcc/Tcc	0	validated		benign	
KCNAB2		inserm.fr	GRCh37	1	6155614	6155614	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1531T																					ENST00000378083.3:c.878C>T	p.Pro293Leu	p.P293L	ENST00000378083	NM_001199862.1	293	cCt/cTt	0	not done		probablydamaging	
TMEM258		inserm.fr	GRCh37	11	61557285	61557285	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1209T																					ENST00000537328.1:c.222G>A	p.Trp74Ter	p.W74*	ENST00000537328	NM_014206.3	74	tgG/tgA	0	not done		damaging	
SERPINB2		inserm.fr	GRCh37	18	61558697	61558697	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1600T																					ENST00000457692.1:c.19G>T	p.Ala7Ser	p.A7S	ENST00000457692	NM_001143818.1	7	Gca/Tca	0	not done		possiblydamaging	
ACE		inserm.fr	GRCh37	17	61574192	61574192	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2052T																					ENST00000290866.4:c.3537G>T	p.Trp1179Cys	p.W1179C	ENST00000290866	NM_000789.3	1179	tgG/tgT	0	not done		probablydamaging	
FADS1		inserm.fr	GRCh37	11	61580038	61580038	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC614T																					ENST00000350997.7:c.589T>A	p.Leu197Met	p.L197M	ENST00000350997	NM_013402.4	197	Ttg/Atg	0	validated		probablydamaging	
FADS1		inserm.fr	GRCh37	11	61580751	61580751	+	synonymous_variant	Silent	SNP	C	T	T			CHC1754T																					ENST00000350997.7:c.450G>A	p.Leu150=	p.L150=	ENST00000350997	NM_013402.4	150	ctG/ctA	0	not done		synonymous	
VWF		inserm.fr	GRCh37	12	6161791	6161791	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1601T																					ENST00000261405.5:c.2104G>A	p.Val702Met	p.V702M	ENST00000261405	NM_000552.3	702	Gtg/Atg	0	not done		probablydamaging	
USP34		inserm.fr	GRCh37	2	61633059	61633059	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1603T																					ENST00000398571.2:c.336T>A	p.Asn112Lys	p.N112K	ENST00000398571	NM_014709.3	112	aaT/aaA	0	not done		benign	
CHD7		inserm.fr	GRCh37	8	61654938	61654938	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1763T																					ENST00000423902.2:c.947G>T	p.Ser316Ile	p.S316I	ENST00000423902	NM_017780.3	316	aGt/aTt	0	not done		probablydamaging	
CDH8		inserm.fr	GRCh37	16	61687654	61687654	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000577390.1:c.2258G>A	p.Gly753Glu	p.G753E	ENST00000577390	NM_001796.4	753	gGg/gAg	0	not done		probablydamaging	
XPO1		inserm.fr	GRCh37	2	61713072	61713072	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1704T																					ENST00000401558.2:c.2339T>A	p.Leu780Gln	p.L780Q	ENST00000401558	NM_003400.3	780	cTg/cAg	0	not done		probablydamaging	
BEST1		inserm.fr	GRCh37	11	61719326	61719326	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000449131.2:c.-29+1427C>T		*10*	ENST00000449131	NM_001139443.1			0	not done		synonymous	
CHD7		inserm.fr	GRCh37	8	61742897	61742897	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM423T																					ENST00000423902.2:c.3539C>T	p.Ala1180Val	p.A1180V	ENST00000423902	NM_017780.3	1180	gCt/gTt	0	validated		benign	
TMEM30B		inserm.fr	GRCh37	14	61747722	61747722	+	synonymous_variant	Silent	SNP	G	T	T			CHC320T																					ENST00000555868.1:c.144C>A	p.Gly48=	p.G48=	ENST00000555868	NM_001017970.2	48	ggC/ggA	0	validated		synonymous	
CHD7		inserm.fr	GRCh37	8	61763851	61763851	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC327T									Valid												ENST00000423902.2:c.5638G>T	p.Glu1880Ter	p.E1880*	ENST00000423902	NM_017780.3	1880	Gaa/Taa	0	validated		damaging	
CHD7		inserm.fr	GRCh37	8	61765249	61765249	+	synonymous_variant	Silent	SNP	C	T	T			CHC1192T																					ENST00000423902.2:c.6087C>T	p.Pro2029=	p.P2029=	ENST00000423902	NM_017780.3	2029	ccC/ccT	0	not done		synonymous	
NFIA		inserm.fr	GRCh37	1	61798198	61798198	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371189.4:c.775C>T	p.Gln259Ter	p.Q259*	ENST00000371189	NM_001145512.1	259	Cag/Tag	0	not done		damaging	
CHD5		inserm.fr	GRCh37	1	6181183	6181183	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB231T																					ENST00000262450.3:c.4894C>A	p.Pro1632Thr	p.P1632T	ENST00000262450	NM_015557.2	1632	Ccg/Acg	0	validated		benign	
ANK3		inserm.fr	GRCh37	10	61815746	61815746	+	synonymous_variant	Silent	SNP	A	T	T			CHC433T																					ENST00000280772.2:c.12735T>A	p.Ala4245=	p.A4245=	ENST00000280772	NM_020987.3	4245	gcT/gcA	0	validated		synonymous	
NFIA		inserm.fr	GRCh37	1	61824835	61824835	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC898T																					ENST00000371189.4:c.970A>T	p.Lys324Ter	p.K324*	ENST00000371189	NM_001145512.1	324	Aag/Tag	0	not done		damaging	
CCDC47		inserm.fr	GRCh37	17	61833709	61833709	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000225726.5:c.839G>A	p.Ser280Asn	p.S280N	ENST00000225726	NM_020198.2	280	aGt/aAt	0	not done		possiblydamaging	
ANK3		inserm.fr	GRCh37	10	61836166	61836166	+	synonymous_variant	Silent	SNP	A	T	T			CHC1725T																					ENST00000280772.2:c.4473T>A	p.Thr1491=	p.T1491=	ENST00000280772	NM_020987.3	1491	acT/acA	0	not done		synonymous	
ANK3		inserm.fr	GRCh37	10	61846641	61846641	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000280772.2:c.3542C>A	p.Ala1181Asp	p.A1181D	ENST00000280772	NM_020987.3	1181	gCc/gAc	0	not done		probablydamaging	
VWF		inserm.fr	GRCh37	12	6184706	6184706	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000261405.5:c.669G>A	p.Glu223=	p.E223=	ENST00000261405	NM_000552.3	223	gaG/gaA	0	not done		synonymous	
CDH8		inserm.fr	GRCh37	16	61854834	61854834	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000577390.1:c.1019G>A	p.Arg340Lys	p.R340K	ENST00000577390	NM_001796.4	340	aGa/aAa	0	not done		benign	
BIRC7		inserm.fr	GRCh37	20	61869316	61869316	+	synonymous_variant	Silent	SNP	G	T	T			CHC258T																					ENST00000217169.3:c.411G>T	p.Gly137=	p.G137=	ENST00000217169	NM_139317.2	137	ggG/ggT	0	validated		synonymous	
BIRC7		inserm.fr	GRCh37	20	61870918	61870918	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM371T																					ENST00000217169.3:c.858A>T	p.Arg286Ser	p.R286S	ENST00000217169	NM_139317.2	286	agA/agT	0	validated		probablydamaging	
BIRC7		inserm.fr	GRCh37	20	61870934	61870934	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000217169.3:c.874C>T	p.Arg292Cys	p.R292C	ENST00000217169	NM_139317.2	292	Cgc/Tgc	0	not done		benign	
NKAIN4		inserm.fr	GRCh37	20	61878962	61878962	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370316.3:c.439G>A	p.Ala147Thr	p.A147T	ENST00000370316	NM_152864.3	147	Gcc/Acc	0	not done		probablydamaging	
INCENP		inserm.fr	GRCh37	11	61912746	61912746	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000394818.3:c.1821C>T	p.Asp607=	p.D607=	ENST00000394818	NM_001040694.1	607	gaC/gaT	0	validated		synonymous	
POLRMT		inserm.fr	GRCh37	19	619239	619239	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000588649.2:c.3124G>A	p.Glu1042Lys	p.E1042K	ENST00000588649	NM_005035.3	1042	Gag/Aag	0	not done		possiblydamaging	
USP42		inserm.fr	GRCh37	7	6194746	6194746	+	synonymous_variant	Silent	SNP	A	T	T			BCM545T																					ENST00000306177.5:c.3561A>T	p.Leu1187=	p.L1187=	ENST00000306177	NM_032172.2	1187	ctA/ctT	0	validated		synonymous	
CSH2		inserm.fr	GRCh37	17	61949981	61949981	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T																					ENST00000392886.2:c.412C>A	p.His138Asn	p.H138N	ENST00000392886	NM_020991.3	138	Cac/Aac	0	validated		benign	
USP42		inserm.fr	GRCh37	7	6196617	6196617	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM397T																					ENST00000306177.5:c.3874C>T	p.Arg1292Cys	p.R1292C	ENST00000306177	NM_032172.2	1292	Cgt/Tgt	0	validated		benign	
CSH1		inserm.fr	GRCh37	17	61972405	61972405	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000316193.8:c.631G>A	p.Val211Met	p.V211M	ENST00000316193	NM_001317.5	211	Gtg/Atg	0	not done		probablydamaging	
CHRNA4		inserm.fr	GRCh37	20	61981065	61981065	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000370263.4:c.1698G>A	p.Arg566=	p.R566=	ENST00000370263	NM_000744.6	566	cgG/cgA	0	not done		synonymous	
PCDH20		inserm.fr	GRCh37	13	61989221	61989221	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC614T									Valid												ENST00000409186.1:c.71C>A	p.Pro24Gln	p.P24Q	ENST00000409186		24	cCg/cAg	0	validated		benign	
CHD5		inserm.fr	GRCh37	1	6202309	6202309	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000262450.3:c.2315C>A	p.Ala772Glu	p.A772E	ENST00000262450	NM_015557.2	772	gCg/gAg	0	not done		probablydamaging	
CHD5		inserm.fr	GRCh37	1	6202473	6202473	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC1601T																					ENST00000262450.3:c.2235+1G>A		p.X745_splice	ENST00000262450	NM_015557.2			0	not done		damaging	
SCN4A		inserm.fr	GRCh37	17	62036788	62036788	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000435607.1:c.1856G>A	p.Gly619Asp	p.G619D	ENST00000435607	NM_000334.4	619	gGc/gAc	0	not done		probablydamaging	
KCNQ2		inserm.fr	GRCh37	20	62039864	62039864	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC097T																					ENST00000359125.2:c.1789C>A	p.Pro597Thr	p.P597T	ENST00000359125	NM_172107.2	597	Cca/Aca	0	not done		benign	
KCNQ2		inserm.fr	GRCh37	20	62046320	62046320	+	synonymous_variant	Silent	SNP	C	T	T			BCM711T																					ENST00000359125.2:c.1461G>A	p.Gly487=	p.G487=	ENST00000359125	NM_172107.2	487	ggG/ggA	0	validated		synonymous	
C17orf72		inserm.fr	GRCh37	17	62076414	62076414	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000425164.3:c.223C>T	p.Pro75Ser	p.P75S	ENST00000425164	NM_001191029.1	75	Cct/Tct	0	not done		possiblydamaging	
KCNQ2		inserm.fr	GRCh37	20	62076690	62076690	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2215T																					ENST00000359125.2:c.415G>A	p.Val139Met	p.V139M	ENST00000359125	NM_172107.2	139	Gtg/Atg	0	not done		probablydamaging	
C17orf72		inserm.fr	GRCh37	17	62079313	62079313	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1714T																					ENST00000425164.3:c.689G>T	p.Gly230Val	p.G230V	ENST00000425164	NM_001191029.1	230	gGc/gTc	0	not done			
ICAM2		inserm.fr	GRCh37	17	62080121	62080121	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000412356.1:c.814G>A	p.Ala272Thr	p.A272T	ENST00000412356	NM_001099786.1	272	Gcc/Acc	0	not done		benign	
CCT4		inserm.fr	GRCh37	2	62104150	62104150	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000394440.3:c.682G>A	p.Val228Ile	p.V228I	ENST00000394440	NM_006430.3	228	Gtt/Att	0	not done		benign	
PTPRG		inserm.fr	GRCh37	3	62118279	62118279	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T									Valid												ENST00000474889.1:c.619A>T	p.Ser207Cys	p.S207C	ENST00000474889	NM_002841.3	207	Agt/Tgt	0	validated		probablydamaging	
EEF1A2		inserm.fr	GRCh37	20	62122029	62122029	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM567T																					ENST00000217182.3:c.832G>A	p.Val278Met	p.V278M	ENST00000217182	NM_001958.3	278	Gtg/Atg	0	validated		probablydamaging	
VPS13C		inserm.fr	GRCh37	15	62148521	62148521	+	synonymous_variant	Silent	SNP	A	T	T			BCM739T																					ENST00000261517.5:c.11040T>A	p.Pro3680=	p.P3680=	ENST00000261517	NM_020821.2	3680	ccT/ccA	0	validated		synonymous	
VPS13C		inserm.fr	GRCh37	15	62168014	62168014	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261517.5:c.10255G>A	p.Gly3419Arg	p.G3419R	ENST00000261517	NM_020821.2	3419	Ggg/Agg	0	not done		probablydamaging	
C20orf195		inserm.fr	GRCh37	20	62187309	62187309	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370098.3:c.293C>T	p.Ala98Val	p.A98V	ENST00000370098	NM_024059.2	98	gCc/gTc	0	not done		benign	
HELZ2		inserm.fr	GRCh37	20	62194495	62194495	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000467148.1:c.5680G>A	p.Gly1894Ser	p.G1894S	ENST00000467148	NM_001037335.2	1894	Ggc/Agc	0	not done		probablydamaging	
HELZ2		inserm.fr	GRCh37	20	62194572	62194572	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000467148.1:c.5603G>A	p.Gly1868Asp	p.G1868D	ENST00000467148	NM_001037335.2	1868	gGc/gAc	0	not done		benign	
HELZ2		inserm.fr	GRCh37	20	62194864	62194864	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000467148.1:c.5311G>A	p.Val1771Ile	p.V1771I	ENST00000467148	NM_001037335.2	1771	Gtc/Atc	0	not done		benign	
HELZ2		inserm.fr	GRCh37	20	62196905	62196905	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000467148.1:c.3270G>A	p.Gly1090=	p.G1090=	ENST00000467148	NM_001037335.2	1090	ggG/ggA	0	not done		synonymous	
HELZ2		inserm.fr	GRCh37	20	62203697	62203697	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000467148.1:c.42G>A	p.Arg14=	p.R14=	ENST00000467148	NM_001037335.2	14	cgG/cgA	0	not done		synonymous	
PTPRG		inserm.fr	GRCh37	3	62204540	62204540	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC917T																					ENST00000474889.1:c.2171C>T	p.Ser724Phe	p.S724F	ENST00000474889	NM_002841.3	724	tCt/tTt	0	validated		possiblydamaging	
GMEB2		inserm.fr	GRCh37	20	62222006	62222006	+	synonymous_variant	Silent	SNP	C	T	T			CHC879T																					ENST00000266068.1:c.1029G>A	p.Val343=	p.V343=	ENST00000266068		343	gtG/gtA	0	not done		synonymous	
INADL		inserm.fr	GRCh37	1	62263013	62263013	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCM723T																					ENST00000371158.2:c.1315C>T	p.Arg439Ter	p.R439*	ENST00000371158	NM_176877.2	439	Cga/Tga	0	validated		damaging	
TEX2		inserm.fr	GRCh37	17	62270931	62270931	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000258991.3:c.2164G>A	p.Gly722Arg	p.G722R	ENST00000258991	NM_001288732.1	722	Gga/Aga	0	not done		probablydamaging	
AHNAK		inserm.fr	GRCh37	11	62285313	62285313	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC451T																					ENST00000378024.4:c.16576G>A	p.Gly5526Ser	p.G5526S	ENST00000378024	NM_001620.2	5526	Ggt/Agt	0	validated		possiblydamaging	
AHNAK		inserm.fr	GRCh37	11	62299996	62299996	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM617T																					ENST00000378024.4:c.1893G>A	p.Met631Ile	p.M631I	ENST00000378024	NM_001620.2	631	atG/atA	0	validated		probablydamaging	
VPS13C		inserm.fr	GRCh37	15	62305257	62305257	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1053T																					ENST00000261517.5:c.806G>A	p.Arg269Lys	p.R269K	ENST00000261517	NM_020821.2	269	aGa/aAa	0	validated		benign	
C11orf42		inserm.fr	GRCh37	11	6232229	6232229	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000316375.2:c.959C>T	p.Pro320Leu	p.P320L	ENST00000316375	NM_173525.2	320	cCc/cTc	0	not done		probablydamaging	
EEF1G		inserm.fr	GRCh37	11	62339309	62339309	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000329251.4:c.235+1G>A		p.X79_splice	ENST00000329251	NM_001404.4			0	not done		damaging	
FEZF2		inserm.fr	GRCh37	3	62358484	62358484	+	synonymous_variant	Silent	SNP	C	T	T			CHC1601T																					ENST00000283268.3:c.60G>A	p.Ala20=	p.A20=	ENST00000283268	NM_018008.3	20	gcG/gcA	0	not done		synonymous	
EML3		inserm.fr	GRCh37	11	62370313	62370313	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB157T									Valid												ENST00000394773.2:c.2405G>A	p.Arg802His	p.R802H	ENST00000394773	NM_153265.2	802	cGc/cAc	0	validated		probablydamaging	
ZBTB46		inserm.fr	GRCh37	20	62378405	62378405	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC796T																					ENST00000245663.4:c.1648G>A	p.Glu550Lys	p.E550K	ENST00000245663	NM_025224.3	550	Gag/Aag	0	validated		benign	
B3GAT3		inserm.fr	GRCh37	11	62389390	62389390	+	synonymous_variant	Silent	SNP	G	T	T			CHC961T																					ENST00000265471.5:c.30C>A	p.Leu10=	p.L10=	ENST00000265471	NM_012200.3	10	ctC/ctA	0	validated		synonymous	
GANAB		inserm.fr	GRCh37	11	62398162	62398162	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000346178.4:c.1363G>A	p.Ala455Thr	p.A455T	ENST00000346178	NM_198335.3	455	Gct/Act	0	not done		benign	
GANAB		inserm.fr	GRCh37	11	62400573	62400573	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000346178.4:c.785G>A	p.Gly262Asp	p.G262D	ENST00000346178	NM_198335.3	262	gGc/gAc	0	not done		probablydamaging	
GANAB		inserm.fr	GRCh37	11	62407109	62407109	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1081T																					ENST00000346178.4:c.133T>A	p.Ser45Thr	p.S45T	ENST00000346178	NM_198335.3	45	Tct/Act	0	validated		probablydamaging	
FAM160A2		inserm.fr	GRCh37	11	6245176	6245176	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000265978.4:c.441G>A	p.Arg147=	p.R147=	ENST00000265978	NM_032127.3	147	cgG/cgA	0	not done		synonymous	
C2CD4B		inserm.fr	GRCh37	15	62457059	62457059	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000380392.3:c.125C>A	p.Pro42His	p.P42H	ENST00000380392	NM_001007595.2	42	cCt/cAt	0	not done		benign	
BSCL2		inserm.fr	GRCh37	11	62458597	62458597	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1148T																					ENST00000433053.1:c.1022G>A	p.Arg341Lys	p.R341K	ENST00000433053		341	aGa/aAa	0	not done		benign	
BSCL2		inserm.fr	GRCh37	11	62472981	62472981	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000433053.1:c.196G>A	p.Val66Ile	p.V66I	ENST00000433053		66	Gtc/Atc	0	not done		possiblydamaging	
DDX5		inserm.fr	GRCh37	17	62500940	62500940	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1603T																					ENST00000225792.5:c.65G>A	p.Gly22Glu	p.G22E	ENST00000225792	NM_004396.3	22	gGa/gAa	0	not done		benign	
ZBTB3		inserm.fr	GRCh37	11	62519564	62519564	+	stop_lost	Nonstop_Mutation	SNP	A	T	T			CHC320T									Valid												ENST00000394807.3:c.1723T>A	p.Ter575LysextTer5	p.*575Kext*5	ENST00000394807	NM_024784.3	575	Taa/Aaa	0	validated		damaging	
TAF6L		inserm.fr	GRCh37	11	62543296	62543296	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1597T																					ENST00000294168.3:c.41G>T	p.Arg14Leu	p.R14L	ENST00000294168	NM_006473.3	14	cGg/cTg	0	not done		probablydamaging	
PFKFB3		inserm.fr	GRCh37	10	6255665	6255665	+	synonymous_variant	Silent	SNP	C	T	T			CHC1604T																					ENST00000379775.4:c.156C>T	p.Ser52=	p.S52=	ENST00000379775	NM_004566.3	52	tcC/tcT	0	not done		synonymous	
SYT16		inserm.fr	GRCh37	14	62567424	62567424	+	stop_lost	Nonstop_Mutation	SNP	A	T	T			BCM567T																					ENST00000430451.2:c.1937A>T	p.Ter646LeuextTer3	p.*646Lext*3	ENST00000430451	NM_031914.2	646	tAg/tTg	0	validated			
ZNF512B		inserm.fr	GRCh37	20	62594560	62594560	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000450537.1:c.1856G>A	p.Gly619Glu	p.G619E	ENST00000450537		619	gGg/gAg	0	not done		probablydamaging	
SAMD10		inserm.fr	GRCh37	20	62608631	62608631	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1745T																					ENST00000369886.3:c.220G>A	p.Ala74Thr	p.A74T	ENST00000369886	NM_080621.4	74	Gcc/Acc	0	validated		benign	
SAMD10		inserm.fr	GRCh37	20	62610742	62610742	+	synonymous_variant	Silent	SNP	G	T	T			CHC961T																					ENST00000369886.3:c.79C>A	p.Arg27=	p.R27=	ENST00000369886	NM_080621.4	27	Cgg/Agg	0	validated		synonymous	
PRPF6		inserm.fr	GRCh37	20	62630450	62630450	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000266079.4:c.824C>T	p.Thr275Met	p.T275M	ENST00000266079	NM_012469.3	275	aCg/aTg	0	validated		probablydamaging	
MCPH1		inserm.fr	GRCh37	8	6266820	6266820	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1736T																					ENST00000344683.5:c.43G>T	p.Val15Leu	p.V15L	ENST00000344683	NM_024596.3	15	Gtg/Ttg	0	not done		probablydamaging	
L1TD1		inserm.fr	GRCh37	1	62676089	62676089	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000498273.1:c.1643C>T	p.Thr548Ile	p.T548I	ENST00000498273	NM_019079.4	548	aCa/aTa	0	not done		benign	
CHRM1		inserm.fr	GRCh37	11	62677696	62677696	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000306960.3:c.877G>A	p.Gly293Arg	p.G293R	ENST00000306960	NM_000738.2	293	Gga/Aga	0	not done		probablydamaging	
SOX18		inserm.fr	GRCh37	20	62679526	62679526	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB151T																					ENST00000340356.7:c.1148C>A	p.Ser383Tyr	p.S383Y	ENST00000340356	NM_018419.2	383	tCc/tAc	0	validated		probablydamaging	
SOX18		inserm.fr	GRCh37	20	62680636	62680636	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000340356.7:c.234G>A	p.Gln78=	p.Q78=	ENST00000340356	NM_018419.2	78	caG/caA	0	not done		synonymous	
OPRL1		inserm.fr	GRCh37	20	62729439	62729439	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000349451.3:c.518C>T	p.Ala173Val	p.A173V	ENST00000349451	NM_001200019.1	173	gCc/gTc	0	not done		benign	
CADPS		inserm.fr	GRCh37	3	62739365	62739365	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000383710.4:c.639G>A	p.Lys213=	p.K213=	ENST00000383710	NM_003716.3	213	aaG/aaA	0	not done		synonymous	
SLC22A6		inserm.fr	GRCh37	11	62744726	62744726	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1061T																					ENST00000377871.3:c.1495G>A	p.Ala499Thr	p.A499T	ENST00000377871	NM_153278.2	499	Gct/Act	0	validated		benign	
SLC22A6		inserm.fr	GRCh37	11	62747027	62747027	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000377871.3:c.1294G>A	p.Gly432Ser	p.G432S	ENST00000377871	NM_153278.2	432	Ggt/Agt	0	not done		possiblydamaging	
SLC22A6		inserm.fr	GRCh37	11	62752102	62752102	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000377871.3:c.61G>A	p.Val21Ile	p.V21I	ENST00000377871	NM_153278.2	21	Gtc/Atc	0	not done		benign	
SLC22A8		inserm.fr	GRCh37	11	62761009	62761009	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2098T																					ENST00000336232.2:c.1416C>A	p.Phe472Leu	p.F472L	ENST00000336232	NM_001184736.1	472	ttC/ttA	0	not done		benign	
SLC22A8		inserm.fr	GRCh37	11	62767264	62767264	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000336232.2:c.488G>A	p.Ser163Asn	p.S163N	ENST00000336232	NM_001184736.1	163	aGc/aAc	0	not done		probablydamaging	
ARHGEF9		inserm.fr	GRCh37	X	62857965	62857965	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000253401.6:c.1494G>A	p.Lys498=	p.K498=	ENST00000253401	NM_015185.2	498	aaG/aaA	0	not done		synonymous	
CADPS		inserm.fr	GRCh37	3	62860553	62860553	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000383710.4:c.152G>A	p.Gly51Asp	p.G51D	ENST00000383710	NM_003716.3	51	gGc/gAc	0	not done		benign	
ARHGEF9		inserm.fr	GRCh37	X	62926239	62926239	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC303T									Valid												ENST00000253401.6:c.280G>A	p.Gly94Arg	p.G94R	ENST00000253401	NM_015185.2	94	Ggg/Agg	0	validated		benign	
WFS1		inserm.fr	GRCh37	4	6292937	6292937	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1207T																					ENST00000226760.1:c.474G>T	p.Glu158Asp	p.E158D	ENST00000226760	NM_001145853.1	158	gaG/gaT	0	not done		probablydamaging	
MON2		inserm.fr	GRCh37	12	62949774	62949774	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			BCB301T									Valid												ENST00000393632.2:c.3211G>T	p.Val1071Leu	p.V1071L	ENST00000393632	NM_001278472.1	1071	Gta/Tta	0	validated		probablydamaging	
SLC22A25		inserm.fr	GRCh37	11	62951237	62951237	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000306494.6:c.883G>A	p.Gly295Ser	p.G295S	ENST00000306494	NM_199352.3	295	Ggc/Agc	0	not done		probablydamaging	
MCPH1		inserm.fr	GRCh37	8	6296493	6296493	+	synonymous_variant	Silent	SNP	C	T	T			BCM783T																					ENST00000344683.5:c.456C>T	p.Leu152=	p.L152=	ENST00000344683	NM_024596.3	152	ctC/ctT	0	validated		synonymous	
TLN2		inserm.fr	GRCh37	15	62966043	62966043	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1154T																					ENST00000561311.1:c.806C>T	p.Pro269Leu	p.P269L	ENST00000561311		269	cCc/cTc	0	not done		probablydamaging	
MON2		inserm.fr	GRCh37	12	62986371	62986371	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM337T																					ENST00000393632.2:c.4996G>T	p.Gly1666Ter	p.G1666*	ENST00000393632	NM_001278472.1	1666	Gga/Tga	0	validated		damaging	
WFS1		inserm.fr	GRCh37	4	6303931	6303931	+	synonymous_variant	Silent	SNP	G	T	T			CHC2141T																					ENST00000226760.1:c.2409G>T	p.Val803=	p.V803=	ENST00000226760	NM_001145853.1	803	gtG/gtT	0	not done		synonymous	
DOCK7		inserm.fr	GRCh37	1	63042997	63042997	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000340370.5:c.2048G>A	p.Gly683Asp	p.G683D	ENST00000340370	NM_033407.3	683	gGc/gAc	0	not done		probablydamaging	
HES3		inserm.fr	GRCh37	1	6304503	6304503	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000377898.3:c.78C>T	p.His26=	p.H26=	ENST00000377898	NM_001024598.3	26	caC/caT	0	not done		synonymous	
HES3		inserm.fr	GRCh37	1	6305238	6305238	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1715T																					ENST00000377898.3:c.232C>T	p.Gln78Ter	p.Q78*	ENST00000377898	NM_001024598.3	78	Cag/Tag	0	not done		damaging	
SLC22A9		inserm.fr	GRCh37	11	63176242	63176242	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000279178.3:c.1492C>T	p.Pro498Ser	p.P498S	ENST00000279178	NM_080866.2	498	Ccc/Tcc	0	not done		probablydamaging	
TMEM26		inserm.fr	GRCh37	10	63188741	63188741	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000399298.3:c.548G>A	p.Gly183Glu	p.G183E	ENST00000399298	NM_178505.6	183	gGg/gAg	0	not done		probablydamaging	
RGS9		inserm.fr	GRCh37	17	63206707	63206707	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM257T																					ENST00000262406.9:c.1391C>T	p.Thr464Ile	p.T464I	ENST00000262406	NM_003835.3	464	aCt/aTt	0	validated		probablydamaging	
RGS9		inserm.fr	GRCh37	17	63221138	63221138	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC121T									Valid												ENST00000262406.9:c.1426C>T	p.Pro476Ser	p.P476S	ENST00000262406	NM_003835.3	476	Ccc/Tcc	0	validated		probablydamaging	
HRASLS5		inserm.fr	GRCh37	11	63231007	63231007	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1601T																					ENST00000301790.4:c.808G>A	p.Asp270Asn	p.D270N	ENST00000301790		270	Gat/Aat	0	not done		possiblydamaging	
LGALS12		inserm.fr	GRCh37	11	63283061	63283061	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000340246.5:c.743C>T	p.Ala248Val	p.A248V	ENST00000340246		248	gCt/gTt	0	not done		possiblydamaging	
TPD52L3		inserm.fr	GRCh37	9	6328619	6328619	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000344545.5:c.24C>T	p.Thr8=	p.T8=	ENST00000344545	NM_033516.5	8	acC/acT	0	not done		synonymous	
AIPL1		inserm.fr	GRCh37	17	6329035	6329035	+	synonymous_variant	Silent	SNP	C	T	T			BCM321T																					ENST00000381129.3:c.900G>A	p.Ala300=	p.A300=	ENST00000381129	NM_014336.3	300	gcG/gcA	0	validated		synonymous	
RARRES3		inserm.fr	GRCh37	11	63312233	63312233	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000255688.3:c.259C>T	p.Arg87Trp	p.R87W	ENST00000255688	NM_004585.3	87	Cgg/Tgg	0	validated		benign	
CLUL1		inserm.fr	GRCh37	18	633333	633333	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC322T									Valid												ENST00000400606.2:c.892C>T	p.Pro298Ser	p.P298S	ENST00000400606	NM_014410.4	298	Cct/Tct	0	validated		probablydamaging	
ACOT7		inserm.fr	GRCh37	1	6341276	6341276	+	synonymous_variant	Silent	SNP	C	T	T			CHC2112T																					ENST00000377855.2:c.930G>A	p.Val310=	p.V310=	ENST00000377855	NM_181864.2	310	gtG/gtA	0	not done		synonymous	
ATL3		inserm.fr	GRCh37	11	63419972	63419972	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000398868.3:c.481G>A	p.Ala161Thr	p.A161T	ENST00000398868	NM_015459.3	161	Gct/Act	0	not done		probablydamaging	
ASB12		inserm.fr	GRCh37	X	63444345	63444345	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000362002.2:c.827C>A	p.Thr276Asn	p.T276N	ENST00000362002	NM_130388.3	276	aCt/aAt	0	not done			
KCNH5		inserm.fr	GRCh37	14	63473110	63473110	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC912T																					ENST00000322893.7:c.278T>A	p.Phe93Tyr	p.F93Y	ENST00000322893	NM_139318.4	93	tTt/tAt	0	validated		benign	
CDH7		inserm.fr	GRCh37	18	63476967	63476967	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM769T									Valid												ENST00000397968.2:c.238G>T	p.Gly80Cys	p.G80C	ENST00000397968	NM_004361.2	80	Ggt/Tgt	0	validated		probablydamaging	
RTN3		inserm.fr	GRCh37	11	63486446	63486446	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1040T																					ENST00000377819.5:c.472A>T	p.Ile158Phe	p.I158F	ENST00000377819	NM_001265589.1	158	Att/Ttt	0	not done		possiblydamaging	
AXIN2		inserm.fr	GRCh37	17	63531745	63531745	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000307078.5:c.2236G>A	p.Asp746Asn	p.D746N	ENST00000307078	NM_004655.3	746	Gat/Aat	0	not done		possiblydamaging	
ZNF727		inserm.fr	GRCh37	7	63538488	63538488	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000550760.3:c.1061C>T	p.Thr354Ile	p.T354I	ENST00000550760	NM_001159522.1	354	aCc/aTc	0	not done		benign	
ACOT7		inserm.fr	GRCh37	1	6354958	6354958	+	synonymous_variant	Silent	SNP	C	T	T			CHC303T																					ENST00000377855.2:c.825G>A	p.Val275=	p.V275=	ENST00000377855	NM_181864.2	275	gtG/gtA	0	validated		synonymous	
PRKAR1B		inserm.fr	GRCh37	7	635858	635858	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000406797.1:c.633G>A	p.Arg211=	p.R211=	ENST00000406797	NM_001164761.1	211	agG/agA	0	not done		synonymous	
PITPNM3		inserm.fr	GRCh37	17	6360913	6360913	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000262483.8:c.2619+1G>A		p.X873_splice	ENST00000262483	NM_031220.3			0	not done		damaging	
CA12		inserm.fr	GRCh37	15	63631039	63631039	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1052T									Valid												ENST00000178638.3:c.853G>A	p.Val285Ile	p.V285I	ENST00000178638	NM_001218.3	285	Gta/Ata	0	validated		probablydamaging	
CA12		inserm.fr	GRCh37	15	63638757	63638757	+	synonymous_variant	Silent	SNP	C	T	T			CHC1725T																					ENST00000178638.3:c.258G>A	p.Gln86=	p.Q86=	ENST00000178638	NM_001218.3	86	caG/caA	0	not done		synonymous	
CA12		inserm.fr	GRCh37	15	63638863	63638863	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000178638.3:c.152G>A	p.Gly51Glu	p.G51E	ENST00000178638	NM_001218.3	51	gGg/gAg	0	not done		probablydamaging	
SNTN		inserm.fr	GRCh37	3	63645534	63645534	+	synonymous_variant	Silent	SNP	C	T	T			BCM339T																					ENST00000343837.3:c.279C>T	p.Phe93=	p.F93=	ENST00000343837	NM_001080537.1	93	ttC/ttT	0	validated		synonymous	
MARK2		inserm.fr	GRCh37	11	63666301	63666301	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1081T																					ENST00000402010.2:c.470G>T	p.Arg157Leu	p.R157L	ENST00000402010	NM_001039469.2	157	cGc/cTc	0	validated		probablydamaging	
RCOR2		inserm.fr	GRCh37	11	63681468	63681468	+	synonymous_variant	Silent	SNP	C	T	T			CHC1602T																					ENST00000301459.4:c.849G>A	p.Thr283=	p.T283=	ENST00000301459	NM_173587.3	283	acG/acA	0	not done		synonymous	
AL137145.1		inserm.fr	GRCh37	10	6368604	6368604	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	A	T	T			CHC432T																					ENST00000399868.2:n.217A>T		p.X73_splice	ENST00000399868				0	not done		damaging	
PITPNM3		inserm.fr	GRCh37	17	6377858	6377858	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000262483.8:c.1152G>A	p.Glu384=	p.E384=	ENST00000262483	NM_031220.3	384	gaG/gaA	0	not done		synonymous	
EXOC2		inserm.fr	GRCh37	6	637785	637785	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1079T																					ENST00000230449.4:c.34G>A	p.Gly12Ser	p.G12S	ENST00000230449	NM_018303.5	12	Ggc/Agc	0	not done		probablydamaging	
ZNF736		inserm.fr	GRCh37	7	63796637	63796637	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000423484.2:c.4G>T	p.Gly2Ter	p.G2*	ENST00000423484		2	Gga/Tga	0	not done		possiblydamaging	
MDH1		inserm.fr	GRCh37	2	63832498	63832498	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1035T									Valid												ENST00000539945.1:c.814G>T	p.Val272Phe	p.V272F	ENST00000539945	NM_001199111.1	272	Gtc/Ttc	0	validated		possiblydamaging	
USP3		inserm.fr	GRCh37	15	63852134	63852134	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000380324.3:c.612G>T	p.Arg204=	p.R204=	ENST00000380324	NM_006537.3	204	cgG/cgT	0	validated		synonymous	
HERC1		inserm.fr	GRCh37	15	63922712	63922712	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000443617.2:c.12919G>A	p.Ala4307Thr	p.A4307T	ENST00000443617	NM_003922.3	4307	Gca/Aca	0	not done		benign	
HERC1		inserm.fr	GRCh37	15	63927026	63927026	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000443617.2:c.12476G>A	p.Gly4159Glu	p.G4159E	ENST00000443617	NM_003922.3	4159	gGg/gAg	0	not done		probablydamaging	
HERC1		inserm.fr	GRCh37	15	63958276	63958276	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000443617.2:c.8397G>A	p.Glu2799=	p.E2799=	ENST00000443617	NM_003922.3	2799	gaG/gaA	0	not done		synonymous	
HERC1		inserm.fr	GRCh37	15	63961775	63961775	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1207T																					ENST00000443617.2:c.8168C>A	p.Ser2723Tyr	p.S2723Y	ENST00000443617	NM_003922.3	2723	tCt/tAt	0	validated		probablydamaging	
HERC1		inserm.fr	GRCh37	15	63964741	63964741	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000443617.2:c.7999G>A	p.Val2667Met	p.V2667M	ENST00000443617	NM_003922.3	2667	Gtg/Atg	0	not done		possiblydamaging	
RTKN2		inserm.fr	GRCh37	10	63964769	63964769	+	synonymous_variant	Silent	SNP	G	T	T			CHC1742T																					ENST00000373789.3:c.1033C>A	p.Arg345=	p.R345=	ENST00000373789	NM_145307.2	345	Cgg/Agg	0	not done		synonymous	
HERC1		inserm.fr	GRCh37	15	63966676	63966676	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000443617.2:c.7711G>A	p.Val2571Met	p.V2571M	ENST00000443617	NM_003922.3	2571	Gtg/Atg	0	not done		probablydamaging	
HERC1		inserm.fr	GRCh37	15	63967158	63967158	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2103T																					ENST00000443617.2:c.7229G>A	p.Ser2410Asn	p.S2410N	ENST00000443617	NM_003922.3	2410	aGc/aAc	0	not done		benign	
DPY19L2		inserm.fr	GRCh37	12	63974594	63974594	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000324472.4:c.1748G>A	p.Arg583Lys	p.R583K	ENST00000324472	NM_173812.4	583	aGa/aAa	0	not done		benign	
DPY19L2		inserm.fr	GRCh37	12	63976303	63976303	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000324472.4:c.1608G>A	p.Leu536=	p.L536=	ENST00000324472	NM_173812.4	536	ctG/ctA	0	not done		synonymous	
FERMT3		inserm.fr	GRCh37	11	63987458	63987458	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000279227.5:c.1187G>T	p.Gly396Val	p.G396V	ENST00000279227	NM_178443.2	396	gGg/gTg	0	not done		probablydamaging	
FERMT3		inserm.fr	GRCh37	11	63987986	63987986	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1738T																					ENST00000279227.5:c.1402A>T	p.Ser468Cys	p.S468C	ENST00000279227	NM_178443.2	468	Agc/Tgc	0	not done		probablydamaging	
DNAJC4		inserm.fr	GRCh37	11	63999997	63999997	+	synonymous_variant	Silent	SNP	C	T	T			CHC432T																					ENST00000321685.3:c.276C>T	p.Arg92=	p.R92=	ENST00000321685	NM_005528.3	92	cgC/cgT	0	not done		synonymous	
PLCB3		inserm.fr	GRCh37	11	64027604	64027604	+	synonymous_variant	Silent	SNP	G	T	T			CHC253T																					ENST00000540288.1:c.1629G>T	p.Leu543=	p.L543=	ENST00000540288	NM_000932.2	543	ctG/ctT	0	validated		synonymous	
RTKN2		inserm.fr	GRCh37	10	64028337	64028337	+	synonymous_variant	Silent	SNP	G	T	T			CHC1055T																					ENST00000373789.3:c.33C>A	p.Leu11=	p.L11=	ENST00000373789	NM_145307.2	11	ctC/ctA	0	validated		synonymous	
HERC1		inserm.fr	GRCh37	15	64045228	64045228	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM703T																					ENST00000443617.2:c.1831T>A	p.Leu611Ile	p.L611I	ENST00000443617	NM_003922.3	611	Tta/Ata	0	validated		probablydamaging	
CCDC46		inserm.fr	GRCh37	17	64062900	64062900	+	synonymous_variant	Silent	SNP	C	T	T			CHC429T																					ENST00000392769.2:c.951G>A	p.Lys317=	p.K317=	ENST00000392769	NM_145036.3	317	aaG/aaA	0	validated		synonymous	
PRICKLE2		inserm.fr	GRCh37	3	64085314	64085314	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000295902.6:c.1948G>A	p.Ala650Thr	p.A650T	ENST00000295902	NM_198859.3	650	Gcg/Acg	0	not done		benign	
PRDX5		inserm.fr	GRCh37	11	64087301	64087301	+	synonymous_variant	Silent	SNP	G	T	T			CHC1053T																					ENST00000265462.4:c.267G>T	p.Leu89=	p.L89=	ENST00000265462	NM_012094.4	89	ctG/ctT	0	validated		synonymous	
FAM57A		inserm.fr	GRCh37	17	641112	641112	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1137T																					ENST00000308278.8:c.233G>T	p.Trp78Leu	p.W78L	ENST00000308278	NM_024792.1	78	tGg/tTg	0	not done		probablydamaging	
CCDC88B		inserm.fr	GRCh37	11	64111779	64111779	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM543T																					ENST00000356786.5:c.1766C>T	p.Pro589Leu	p.P589L	ENST00000356786	NM_032251.5	589	cCg/cTg	0	validated		benign	
CCDC88B		inserm.fr	GRCh37	11	64116905	64116905	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCM567T									Valid												ENST00000356786.5:c.2719C>T	p.Arg907Ter	p.R907*	ENST00000356786	NM_032251.5	907	Cga/Tga	0	validated		damaging	
PGM1		inserm.fr	GRCh37	1	64120103	64120103	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T																					ENST00000371083.4:c.1619A>T	p.Glu540Val	p.E540V	ENST00000371083	NM_001172818.1	540	gAg/gTg	0	validated		benign	
SMPD1		inserm.fr	GRCh37	11	6412752	6412752	+	synonymous_variant	Silent	SNP	C	T	T			CHC2052T																					ENST00000342245.4:c.457C>T	p.Leu153=	p.L153=	ENST00000342245	NM_001007593.2	153	Ctg/Ttg	0	not done		synonymous	
SMPD1		inserm.fr	GRCh37	11	6412754	6412754	+	synonymous_variant	Silent	SNP	G	T	T			CHC2052T																					ENST00000342245.4:c.459G>T	p.Leu153=	p.L153=	ENST00000342245	NM_001007593.2	153	ctG/ctT	0	not done		synonymous	
RPS6KA4		inserm.fr	GRCh37	11	64128704	64128704	+	synonymous_variant	Silent	SNP	G	T	T			BCM275T																					ENST00000334205.4:c.561G>T	p.Leu187=	p.L187=	ENST00000334205	NM_003942.2	187	ctG/ctT	0	validated		synonymous	
ZNF365		inserm.fr	GRCh37	10	64136529	64136529	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000410046.3:c.577G>T	p.Glu193Ter	p.E193*	ENST00000410046	NM_199451.2	193	Gaa/Taa	0	not done		damaging	
PRICKLE2		inserm.fr	GRCh37	3	64138895	64138895	+	synonymous_variant	Silent	SNP	C	T	T			CHC1750T																					ENST00000295902.6:c.750G>A	p.Leu250=	p.L250=	ENST00000295902	NM_198859.3	250	ttG/ttA	0	not done		synonymous	
SMPD1		inserm.fr	GRCh37	11	6415566	6415566	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC799T																					ENST00000342245.4:c.1625G>T	p.Arg542Leu	p.R542L	ENST00000342245	NM_001007593.2	542	cGa/cTa	0	not done		probablydamaging	
ZNF107		inserm.fr	GRCh37	7	64167500	64167500	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1751T																					ENST00000395391.1:c.818A>T	p.Lys273Ile	p.K273I	ENST00000395391		273	aAa/aTa	0	not done		probablydamaging	
ZNF107		inserm.fr	GRCh37	7	64167760	64167760	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC314T									Valid												ENST00000395391.1:c.1078G>T	p.Glu360Ter	p.E360*	ENST00000395391		360	Gaa/Taa	0	validated		damaging	
TMEM5		inserm.fr	GRCh37	12	64196101	64196101	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC197T									Valid												ENST00000261234.6:c.659G>T	p.Gly220Val	p.G220V	ENST00000261234	NM_014254.2	220	gGc/gTc	0	validated		probablydamaging	
TMEM5		inserm.fr	GRCh37	12	64196102	64196102	+	synonymous_variant	Silent	SNP	C	T	T			CHC197T																					ENST00000261234.6:c.660C>T	p.Gly220=	p.G220=	ENST00000261234	NM_014254.2	220	ggC/ggT	0	validated		synonymous	
DAPK2		inserm.fr	GRCh37	15	64204368	64204368	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261891.3:c.887G>A	p.Arg296His	p.R296H	ENST00000261891		296	cGc/cAc	0	not done		probablydamaging	
KHSRP		inserm.fr	GRCh37	19	6420453	6420453	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC121T									Valid												ENST00000398148.3:c.455C>A	p.Pro152Gln	p.P152Q	ENST00000398148	NM_003685.2	152	cCa/cAa	0	validated		probablydamaging	
DAPK2		inserm.fr	GRCh37	15	64218139	64218139	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000261891.3:c.812+1G>A		p.X271_splice	ENST00000261891				0	not done		damaging	
CDH19		inserm.fr	GRCh37	18	64218449	64218449	+	synonymous_variant	Silent	SNP	C	T	T			CHC794T																					ENST00000262150.2:c.657G>A	p.Glu219=	p.E219=	ENST00000262150	NM_021153.3	219	gaG/gaA	0	validated		synonymous	
APBB1		inserm.fr	GRCh37	11	6432171	6432171	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000299402.6:c.407G>A	p.Gly136Asp	p.G136D	ENST00000299402		136	gGc/gAc	0	not done		benign	
SLC25A41		inserm.fr	GRCh37	19	6432215	6432215	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000321510.6:c.208G>A	p.Val70Ile	p.V70I	ENST00000321510	NM_173637.3	70	Gta/Ata	0	not done		benign	
APBB1		inserm.fr	GRCh37	11	6432313	6432313	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1182T																					ENST00000299402.6:c.265C>A	p.Arg89Ser	p.R89S	ENST00000299402		89	Cgc/Agc	0	not done		probablydamaging	
APBB1		inserm.fr	GRCh37	11	6432360	6432360	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000299402.6:c.218G>A	p.Gly73Asp	p.G73D	ENST00000299402		73	gGc/gAc	0	not done		probablydamaging	
UHRF2		inserm.fr	GRCh37	9	6434172	6434172	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	T	T			CHC1209T																					ENST00000276893.5:c.643G>T	p.Glu215Ter	p.E215*	ENST00000276893	NM_152896.2	215	Gaa/Taa	0	not done		possiblydamaging	
NRXN2		inserm.fr	GRCh37	11	64390257	64390257	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC961T									Valid												ENST00000265459.6:c.4141C>A	p.Arg1381Ser	p.R1381S	ENST00000265459	NM_015080.3	1381	Cgc/Agc	0	validated		probablydamaging	
NRXN2		inserm.fr	GRCh37	11	64390395	64390395	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265459.6:c.4003G>A	p.Gly1335Ser	p.G1335S	ENST00000265459	NM_015080.3	1335	Ggt/Agt	0	not done		possiblydamaging	
NRXN2		inserm.fr	GRCh37	11	64390471	64390471	+	synonymous_variant	Silent	SNP	C	T	T			CHC2362T																					ENST00000265459.6:c.3927G>A	p.Gln1309=	p.Q1309=	ENST00000265459	NM_015080.3	1309	caG/caA	0	validated		synonymous	
NRXN2		inserm.fr	GRCh37	11	64410112	64410112	+	intron_variant	Intron	SNP	G	T	T			CHC909T																					ENST00000265459.6:c.3403+5579C>A		*1135*	ENST00000265459	NM_015080.3			0	not done		probablydamaging	
NRXN2		inserm.fr	GRCh37	11	64435082	64435082	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265459.6:c.1438G>A	p.Gly480Arg	p.G480R	ENST00000265459	NM_015080.3	480	Ggg/Agg	0	not done		probablydamaging	
ADAMTS6		inserm.fr	GRCh37	5	64447715	64447715	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000381055.3:c.3302G>A	p.Cys1101Tyr	p.C1101Y	ENST00000381055	NM_197941.2	1101	tGc/tAc	0	not done		probablydamaging	
SYNE2		inserm.fr	GRCh37	14	64493332	64493332	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1715T																					ENST00000358025.3:c.6288A>T	p.Arg2096Ser	p.R2096S	ENST00000358025	NM_182914.2	2096	agA/agT	0	not done		benign	
CSNK1G1		inserm.fr	GRCh37	15	64497145	64497145	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000303052.7:c.769G>A	p.Asp257Asn	p.D257N	ENST00000303052	NM_022048.3	257	Gac/Aac	0	not done		possiblydamaging	
CLUL1		inserm.fr	GRCh37	18	645069	645069	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC2128T																					ENST00000400606.2:c.1369C>T	p.Gln457Ter	p.Q457*	ENST00000400606	NM_014410.4	457	Cag/Tag	0	not done		damaging	
ADAMTS9		inserm.fr	GRCh37	3	64518851	64518851	+	synonymous_variant	Silent	SNP	C	T	T			CHC614T																					ENST00000498707.1:c.5709G>A	p.Lys1903=	p.K1903=	ENST00000498707	NM_182920.1	1903	aaG/aaA	0	validated		synonymous	
PYGM		inserm.fr	GRCh37	11	64519875	64519875	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000164139.3:c.1620G>A	p.Gln540=	p.Q540=	ENST00000164139	NM_005609.2	540	caG/caA	0	not done		damaging	
DAGLB		inserm.fr	GRCh37	7	6452596	6452596	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC1602T																					ENST00000297056.6:c.1496+1G>A		p.X499_splice	ENST00000297056	NM_139179.3			0	not done		possiblydamaging	
ADAMTS9		inserm.fr	GRCh37	3	64527575	64527575	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1035T									Valid												ENST00000498707.1:c.5136C>A	p.Ser1712Arg	p.S1712R	ENST00000498707	NM_182920.1	1712	agC/agA	0	validated		probablydamaging	
MAP4K2		inserm.fr	GRCh37	11	64559704	64559704	+	synonymous_variant	Silent	SNP	C	T	T			CHC796T																					ENST00000294066.2:c.1854G>A	p.Leu618=	p.L618=	ENST00000294066	NM_004579.3	618	ctG/ctA	0	validated		synonymous	
MAP4K2		inserm.fr	GRCh37	11	64564993	64564993	+	synonymous_variant	Silent	SNP	G	T	T			CHC2115T																					ENST00000294066.2:c.1150C>A	p.Arg384=	p.R384=	ENST00000294066	NM_004579.3	384	Cgg/Agg	0	not done		synonymous	
EGR2		inserm.fr	GRCh37	10	64573645	64573645	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000242480.3:c.753C>A	p.Cys251Ter	p.C251*	ENST00000242480	NM_001136177.1	251	tgC/tgA	0	not done		damaging	
MEN1		inserm.fr	GRCh37	11	64573730	64573730	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC2216T																					ENST00000337652.1:c.1038G>A	p.Trp346Ter	p.W346*	ENST00000337652	NM_130803.2	346	tgG/tgA	0	not done		damaging	
ADAMTS9		inserm.fr	GRCh37	3	64580088	64580088	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000498707.1:c.4202G>A	p.Gly1401Asp	p.G1401D	ENST00000498707	NM_182920.1	1401	gGc/gAc	0	not done		probablydamaging	
C12orf66		inserm.fr	GRCh37	12	64588280	64588280	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1053T																					ENST00000398055.3:c.680G>A	p.Gly227Asp	p.G227D	ENST00000398055	NM_152440.4	227	gGc/gAc	0	validated		probablydamaging	
CDC42BPG		inserm.fr	GRCh37	11	64601240	64601240	+	synonymous_variant	Silent	SNP	C	T	T			CHC1747T																					ENST00000342711.5:c.2535G>A	p.Arg845=	p.R845=	ENST00000342711	NM_017525.2	845	agG/agA	0	not done		synonymous	
ADAMTS9		inserm.fr	GRCh37	3	64601661	64601661	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC609T									Valid												ENST00000498707.1:c.2999G>A	p.Gly1000Asp	p.G1000D	ENST00000498707	NM_182920.1	1000	gGc/gAc	0	validated		possiblydamaging	
CDC42BPG		inserm.fr	GRCh37	11	64606331	64606331	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC205T																					ENST00000342711.5:c.920G>A	p.Ser307Asn	p.S307N	ENST00000342711	NM_017525.2	307	aGc/aAc	0	validated		possiblydamaging	
CDC42BPG		inserm.fr	GRCh37	11	64609284	64609284	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000342711.5:c.252+1G>A		p.X84_splice	ENST00000342711	NM_017525.2			0	not done		damaging	
ATG2A		inserm.fr	GRCh37	11	64674819	64674819	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000377264.3:c.2740G>A	p.Ala914Thr	p.A914T	ENST00000377264	NM_015104.2	914	Gcc/Acc	0	not done		benign	
ATG2A		inserm.fr	GRCh37	11	64675052	64675052	+	synonymous_variant	Silent	SNP	G	T	T			CHC736T																					ENST00000377264.3:c.2592C>A	p.Gly864=	p.G864=	ENST00000377264	NM_015104.2	864	ggC/ggA	0	validated		synonymous	
SYNE2		inserm.fr	GRCh37	14	64675510	64675510	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2052T																					ENST00000358025.3:c.18236G>T	p.Gly6079Val	p.G6079V	ENST00000358025	NM_182914.2	6079	gGg/gTg	0	not done		probablydamaging	
SYNE2		inserm.fr	GRCh37	14	64687186	64687186	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2110Tbis																					ENST00000358025.3:c.19892C>T	p.Ala6631Val	p.A6631V	ENST00000358025	NM_182914.2	6631	gCa/gTa	0	not done		possiblydamaging	
PPP2R5B		inserm.fr	GRCh37	11	64695869	64695869	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM695T																					ENST00000164133.2:c.694C>T	p.Arg232Cys	p.R232C	ENST00000164133	NM_006244.3	232	Cgc/Tgc	0	validated		probablydamaging	
ZC3H12B		inserm.fr	GRCh37	X	64722387	64722387	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB325T									Valid												ENST00000338957.4:c.1809G>T	p.Leu603Phe	p.L603F	ENST00000338957	NM_001010888.3	603	ttG/ttT	0	validated		probablydamaging	
ZC3H12B		inserm.fr	GRCh37	X	64722634	64722634	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB307T									Valid												ENST00000338957.4:c.2056C>T	p.Pro686Ser	p.P686S	ENST00000338957	NM_001010888.3	686	Cct/Tct	0	validated		possiblydamaging	
TRIM3		inserm.fr	GRCh37	11	6477951	6477951	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000525074.1:c.1005G>A	p.Ala335=	p.A335=	ENST00000525074	NM_001248006.1	335	gcG/gcA	0	validated		synonymous	
DENND1C		inserm.fr	GRCh37	19	6478809	6478809	+	synonymous_variant	Silent	SNP	G	T	T			BCM275T																					ENST00000381480.2:c.351C>A	p.Leu117=	p.L117=	ENST00000381480	NM_024898.2	117	ctC/ctA	0	validated		synonymous	
SNX15		inserm.fr	GRCh37	11	64803033	64803033	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM783T																					ENST00000377244.3:c.562C>T	p.Leu188Phe	p.L188F	ENST00000377244	NM_013306.4	188	Ctc/Ttc	0	validated		possiblydamaging	
SNX15		inserm.fr	GRCh37	11	64803035	64803035	+	synonymous_variant	Silent	SNP	C	T	T			BCM783T																					ENST00000377244.3:c.564C>T	p.Leu188=	p.L188=	ENST00000377244	NM_013306.4	188	ctC/ctT	0	validated		synonymous	
SNX15		inserm.fr	GRCh37	11	64803067	64803067	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM783T																					ENST00000377244.3:c.596C>T	p.Ser199Phe	p.S199F	ENST00000377244	NM_013306.4	199	tCt/tTt	0	validated		possiblydamaging	
SNX15		inserm.fr	GRCh37	11	64803074	64803074	+	synonymous_variant	Silent	SNP	C	T	T			BCM783T																					ENST00000377244.3:c.603C>T	p.Ser201=	p.S201=	ENST00000377244	NM_013306.4	201	tcC/tcT	0	validated		synonymous	
AFTPH		inserm.fr	GRCh37	2	64808337	64808337	+	synonymous_variant	Silent	SNP	C	T	T			CHC1603T																					ENST00000238855.7:c.2469C>T	p.Ser823=	p.S823=	ENST00000238855	NM_203437.3	823	tcC/tcT	0	not done		synonymous	
ZFPL1		inserm.fr	GRCh37	11	64854401	64854401	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			BCM257T																					ENST00000294258.3:c.483C>T	p.Ala161=	p.A161=	ENST00000294258	NM_006782.3	161	gcC/gcT	0	validated		damaging	
CACNG5		inserm.fr	GRCh37	17	64876731	64876731	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC326T									Valid												ENST00000533854.1:c.341G>T	p.Gly114Val	p.G114V	ENST00000533854		114	gGg/gTg	0	validated		benign	
CACNG5		inserm.fr	GRCh37	17	64880652	64880652	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000533854.1:c.444C>T	p.Gly148=	p.G148=	ENST00000533854		148	ggC/ggT	0	not done		synonymous	
TM7SF2		inserm.fr	GRCh37	11	64880977	64880977	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000279263.7:c.514G>T	p.Asp172Tyr	p.D172Y	ENST00000279263	NM_003273.3	172	Gac/Tac	0	not done		probablydamaging	
AKAP5		inserm.fr	GRCh37	14	64935857	64935857	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2112T																					ENST00000394718.4:c.745C>T	p.Pro249Ser	p.P249S	ENST00000394718	NM_004857.3	249	Cca/Tca	0	not done		benign	
LTBR		inserm.fr	GRCh37	12	6493593	6493593	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000228918.4:c.69G>T	p.Gly23=	p.G23=	ENST00000228918	NM_002342.2	23	ggG/ggT	0	validated		synonymous	
JMJD1C		inserm.fr	GRCh37	10	64948985	64948985	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000399262.2:c.6513G>A	p.Lys2171=	p.K2171=	ENST00000399262	NM_032776.1	2171	aaG/aaA	0	not done		synonymous	
CAPN1		inserm.fr	GRCh37	11	64950668	64950668	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			BCM791T																					ENST00000527323.1:c.337G>T	p.Gly113Trp	p.G113W	ENST00000527323		113	Ggg/Tgg	0	validated		probablydamaging	
TUBB4A		inserm.fr	GRCh37	19	6495526	6495526	+	synonymous_variant	Silent	SNP	C	T	T			CHC789T																					ENST00000264071.2:c.984G>A	p.Glu328=	p.E328=	ENST00000264071		328	gaG/gaA	0	validated		synonymous	
MSN		inserm.fr	GRCh37	X	64959694	64959694	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000360270.5:c.1673C>T	p.Thr558Ile	p.T558I	ENST00000360270	NM_002444.2	558	aCc/aTc	0	not done		probablydamaging	
ZNF609		inserm.fr	GRCh37	15	64966533	64966533	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000326648.3:c.1480C>T	p.Leu494=	p.L494=	ENST00000326648	NM_015042.1	494	Cta/Tta	0	not done		synonymous	
JMJD1C		inserm.fr	GRCh37	10	64966544	64966544	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000399262.2:c.4885G>A	p.Gly1629Arg	p.G1629R	ENST00000399262	NM_032776.1	1629	Gga/Aga	0	not done		possiblydamaging	
JMJD1C		inserm.fr	GRCh37	10	64966667	64966667	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000399262.2:c.4762G>A	p.Ala1588Thr	p.A1588T	ENST00000399262	NM_032776.1	1588	Gcc/Acc	0	not done		probablydamaging	
ZNF609		inserm.fr	GRCh37	15	64967449	64967449	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2098T																					ENST00000326648.3:c.2396C>T	p.Thr799Met	p.T799M	ENST00000326648	NM_015042.1	799	aCg/aTg	0	not done		probablydamaging	
ZNF609		inserm.fr	GRCh37	15	64968194	64968194	+	synonymous_variant	Silent	SNP	A	T	T			CHC465T																					ENST00000326648.3:c.3141A>T	p.Pro1047=	p.P1047=	ENST00000326648	NM_015042.1	1047	ccA/ccT	0	validated		synonymous	
JMJD1C		inserm.fr	GRCh37	10	64974367	64974367	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000399262.2:c.1560G>A	p.Lys520=	p.K520=	ENST00000399262	NM_032776.1	520	aaG/aaA	0	not done		synonymous	
LTBR		inserm.fr	GRCh37	12	6500008	6500008	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1568T																					ENST00000228918.4:c.1213G>T	p.Glu405Ter	p.E405*	ENST00000228918	NM_002342.2	405	Gaa/Taa	0	not done		damaging	
EYS		inserm.fr	GRCh37	6	65016958	65016958	+	synonymous_variant	Silent	SNP	C	T	T			CHC1717T																					ENST00000503581.1:c.6096G>A	p.Lys2032=	p.K2032=	ENST00000503581	NM_001142800.1	2032	aaG/aaA	0	validated		synonymous	
CDH11		inserm.fr	GRCh37	16	65025804	65025804	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000268603.4:c.678G>A	p.Arg226=	p.R226=	ENST00000268603	NM_001797.2	226	agG/agA	0	not done		synonymous	
CDH11		inserm.fr	GRCh37	16	65026929	65026929	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000268603.4:c.532G>A	p.Val178Ile	p.V178I	ENST00000268603	NM_001797.2	178	Gta/Ata	0	not done		benign	
HELZ		inserm.fr	GRCh37	17	65074571	65074571	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM439T																					ENST00000358691.5:c.5626G>A	p.Ala1876Thr	p.A1876T	ENST00000358691	NM_014877.3	1876	Gcg/Acg	0	validated		possiblydamaging	
SLC25A45		inserm.fr	GRCh37	11	65144404	65144404	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000398802.1:c.483G>A	p.Arg161=	p.R161=	ENST00000398802	NM_182556.2	161	cgG/cgA	0	not done		synonymous	
SLC25A45		inserm.fr	GRCh37	11	65144547	65144547	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000398802.1:c.340G>A	p.Ala114Thr	p.A114T	ENST00000398802	NM_182556.2	114	Gcc/Acc	0	not done		benign	
FRMD8		inserm.fr	GRCh37	11	65161546	65161546	+	synonymous_variant	Silent	SNP	C	T	T			BCB231T																					ENST00000317568.5:c.390C>T	p.Phe130=	p.F130=	ENST00000317568	NM_031904.3	130	ttC/ttT	0	validated		synonymous	
FRMD8		inserm.fr	GRCh37	11	65161561	65161561	+	synonymous_variant	Silent	SNP	G	T	T			CHC796T																					ENST00000317568.5:c.405G>T	p.Arg135=	p.R135=	ENST00000317568	NM_031904.3	135	cgG/cgT	0	validated		synonymous	
PLEKHG3		inserm.fr	GRCh37	14	65209713	65209713	+	synonymous_variant	Silent	SNP	G	T	T			CHC614T																					ENST00000247226.7:c.2784G>T	p.Pro928=	p.P928=	ENST00000247226	NM_015549.1	928	ccG/ccT	0	validated		synonymous	
TNFRSF25		inserm.fr	GRCh37	1	6521757	6521757	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000377782.3:c.1018C>A	p.Pro340Thr	p.P340T	ENST00000377782	NM_148965.1	340	Ccg/Acg	0	not done		possiblydamaging	
TBC1D30		inserm.fr	GRCh37	12	65221647	65221647	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000539867.1:c.187C>T	p.Pro63Ser	p.P63S	ENST00000539867	NM_015279.1	63	Cca/Tca	0	not done			
SPTB		inserm.fr	GRCh37	14	65237766	65237766	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000389722.3:c.5635C>A	p.Gln1879Lys	p.Q1879K	ENST00000389722	NM_001024858.2	1879	Cag/Aag	0	not done		benign	
SPTB		inserm.fr	GRCh37	14	65239460	65239460	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC796T									Valid												ENST00000389722.3:c.5391T>A	p.Tyr1797Ter	p.Y1797*	ENST00000389722	NM_001024858.2	1797	taT/taA	0	validated		damaging	
SPTB		inserm.fr	GRCh37	14	65246442	65246442	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000389722.3:c.4473+1G>A		p.X1491_splice	ENST00000389722	NM_001024858.2			0	not done		damaging	
TBC1D30		inserm.fr	GRCh37	12	65258557	65258557	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000539867.1:c.1148C>T	p.Ser383Phe	p.S383F	ENST00000539867	NM_015279.1	383	tCt/tTt	0	not done			
TBC1D30		inserm.fr	GRCh37	12	65269329	65269329	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1079T																					ENST00000539867.1:c.2047C>T	p.Pro683Ser	p.P683S	ENST00000539867	NM_015279.1	683	Cca/Tca	0	not done			
ERBB2IP		inserm.fr	GRCh37	5	65288725	65288725	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1756T																					ENST00000506030.1:c.179A>T	p.Glu60Val	p.E60V	ENST00000506030		60	gAg/gTg	0	not done		probablydamaging	
EYS		inserm.fr	GRCh37	6	65301763	65301763	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM399T																					ENST00000503581.1:c.3997C>A	p.Leu1333Ile	p.L1333I	ENST00000503581	NM_001142800.1	1333	Ctt/Att	0	validated		benign	
SCYL1		inserm.fr	GRCh37	11	65303790	65303790	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC2113T																					ENST00000270176.5:c.1636C>T	p.Gln546Ter	p.Q546*	ENST00000270176	NM_020680.3	546	Cag/Tag	0	not done		damaging	
KIAA0753		inserm.fr	GRCh37	17	6531705	6531705	+	synonymous_variant	Silent	SNP	C	T	T			CHC1616T																					ENST00000361413.3:c.450G>A	p.Lys150=	p.K150=	ENST00000361413	NM_014804.2	150	aaG/aaA	0	not done		synonymous	
LTBP3		inserm.fr	GRCh37	11	65319733	65319733	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM399T									Valid												ENST00000301873.5:c.1331C>A	p.Pro444Gln	p.P444Q	ENST00000301873	NM_001130144.2	444	cCa/cAa	0	validated		probablydamaging	
DNHD1		inserm.fr	GRCh37	11	6532553	6532553	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000254579.6:c.1286G>T	p.Arg429Leu	p.R429L	ENST00000254579	NM_144666.2	429	cGg/cTg	0	not done		benign	
EHBP1L1		inserm.fr	GRCh37	11	65349926	65349926	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC891T																					ENST00000309295.4:c.1783C>T	p.Pro595Ser	p.P595S	ENST00000309295	NM_001099409.1	595	Cca/Tca	0	not done		benign	
MAP3K11		inserm.fr	GRCh37	11	65365905	65365905	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000309100.3:c.2401G>A	p.Ala801Thr	p.A801T	ENST00000309100	NM_002419.3	801	Gca/Aca	0	not done		probablydamaging	
KBTBD13		inserm.fr	GRCh37	15	65369546	65369546	+	synonymous_variant	Silent	SNP	C	T	T			CHC320T																					ENST00000432196.2:c.393C>T	p.Asp131=	p.D131=	ENST00000432196	NM_001101362.2	131	gaC/gaT	0	validated		synonymous	
MAP3K11		inserm.fr	GRCh37	11	65375130	65375130	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000309100.3:c.1227G>A	p.Glu409=	p.E409=	ENST00000309100	NM_002419.3	409	gaG/gaA	0	not done		synonymous	
PCNXL3		inserm.fr	GRCh37	11	65386456	65386456	+	synonymous_variant	Silent	SNP	G	T	T			CHC1209T																					ENST00000355703.3:c.1623G>T	p.Leu541=	p.L541=	ENST00000355703	NM_032223.2	541	ctG/ctT	0	not done		synonymous	
HEPH		inserm.fr	GRCh37	X	65393613	65393613	+	synonymous_variant	Silent	SNP	C	T	T			CHC322T																					ENST00000519389.1:c.757C>T	p.Leu253=	p.L253=	ENST00000519389		253	Cta/Tta	0	validated		synonymous	
PCNXL3		inserm.fr	GRCh37	11	65402839	65402839	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1595T																					ENST00000355703.3:c.5104C>T	p.Arg1702Cys	p.R1702C	ENST00000355703	NM_032223.2	1702	Cgc/Tgc	0	validated		probablydamaging	
VKORC1L1		inserm.fr	GRCh37	7	65419176	65419176	+	synonymous_variant	Silent	SNP	C	T	T			CHC322T																					ENST00000360768.3:c.420C>T	p.Ile140=	p.I140=	ENST00000360768	NM_173517.4	140	atC/atT	0	validated		synonymous	
WIF1		inserm.fr	GRCh37	12	65445163	65445163	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC314T																					ENST00000286574.4:c.1106G>A	p.Arg369Gln	p.R369Q	ENST00000286574	NM_007191.4	369	cGg/cAg	0	validated		probablydamaging	
WIF1		inserm.fr	GRCh37	12	65445209	65445209	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000286574.4:c.1060G>A	p.Ala354Thr	p.A354T	ENST00000286574	NM_007191.4	354	Gcc/Acc	0	validated		benign	
HEPH		inserm.fr	GRCh37	X	65478760	65478760	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000519389.1:c.3137C>T	p.Ala1046Val	p.A1046V	ENST00000519389		1046	gCc/gTc	0	not done		possiblydamaging	
CILP		inserm.fr	GRCh37	15	65491286	65491286	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000261883.4:c.1338G>A	p.Arg446=	p.R446=	ENST00000261883	NM_003613.3	446	agG/agA	0	not done		synonymous	
FNTB		inserm.fr	GRCh37	14	65494317	65494317	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC059T									Valid												ENST00000246166.2:c.521G>T	p.Arg174Ile	p.R174I	ENST00000246166	NM_002028.3	174	aGa/aTa	0	validated		probablydamaging	
CILP		inserm.fr	GRCh37	15	65497723	65497723	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261883.4:c.506G>A	p.Gly169Glu	p.G169E	ENST00000261883	NM_003613.3	169	gGg/gAg	0	not done		probablydamaging	
AP5B1		inserm.fr	GRCh37	11	65545533	65545533	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000532090.2:c.2431G>A	p.Val811Met	p.V811M	ENST00000532090	NM_138368.4	811	Gtg/Atg	0	not done		probablydamaging	
ASL		inserm.fr	GRCh37	7	65551738	65551738	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000304874.9:c.532G>T	p.Val178Leu	p.V178L	ENST00000304874	NM_000048.3	178	Gtg/Ttg	0	not done		possiblydamaging	
SPRED2		inserm.fr	GRCh37	2	65561885	65561885	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC891T																					ENST00000356388.4:c.227G>A	p.Arg76Lys	p.R76K	ENST00000356388	NM_181784.2	76	aGa/aAa	0	not done		benign	
LEMD3		inserm.fr	GRCh37	12	65564556	65564556	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC917T																					ENST00000308330.2:c.1180G>T	p.Gly394Cys	p.G394C	ENST00000308330	NM_014319.4	394	Ggc/Tgc	0	validated		probablydamaging	
EYS		inserm.fr	GRCh37	6	65612337	65612337	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC451T																					ENST00000503581.1:c.2698C>A	p.Gln900Lys	p.Q900K	ENST00000503581	NM_001142800.1	900	Cag/Aag	0	validated		benign	
CTSW		inserm.fr	GRCh37	11	65650568	65650568	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000307886.3:c.774C>T	p.Gly258=	p.G258=	ENST00000307886	NM_001335.3	258	ggC/ggT	0	not done		synonymous	
DNHD1		inserm.fr	GRCh37	11	6567825	6567825	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1738T																					ENST00000254579.6:c.5656C>T	p.Arg1886Trp	p.R1886W	ENST00000254579	NM_144666.2	1886	Cgg/Tgg	0	not done		probablydamaging	
PITPNC1		inserm.fr	GRCh37	17	65688843	65688843	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000581322.1:c.838C>T	p.Leu280Phe	p.L280F	ENST00000581322		280	Ctc/Ttc	0	validated		possiblydamaging	
NOL11		inserm.fr	GRCh37	17	65718711	65718711	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000253247.4:c.477C>T	p.Phe159=	p.F159=	ENST00000253247	NM_015462.3	159	ttC/ttT	0	validated		synonymous	
SART1		inserm.fr	GRCh37	11	65732876	65732876	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2211T																					ENST00000312397.5:c.618G>T	p.Arg206Ser	p.R206S	ENST00000312397	NM_005146.4	206	agG/agT	0	validated		probablydamaging	
NOL11		inserm.fr	GRCh37	17	65739605	65739605	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC889T									Valid												ENST00000253247.4:c.1946G>T	p.Trp649Leu	p.W649L	ENST00000253247	NM_015462.3	649	tGg/tTg	0	validated		probablydamaging	
B4GALNT3		inserm.fr	GRCh37	12	657401	657401	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2048T																					ENST00000266383.5:c.791G>T	p.Arg264Leu	p.R264L	ENST00000266383	NM_173593.3	264	cGa/cTa	0	not done		probablydamaging	
PDE6B		inserm.fr	GRCh37	4	657648	657648	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000496514.1:c.2010C>T	p.Ala670=	p.A670=	ENST00000496514		670	gcC/gcT	0	not done		synonymous	
CST6		inserm.fr	GRCh37	11	65779605	65779605	+	synonymous_variant	Silent	SNP	G	T	T			CHC1598T																					ENST00000312134.2:c.90G>T	p.Pro30=	p.P30=	ENST00000312134	NM_001323.3	30	ccG/ccT	0	validated		synonymous	
DNAJC6		inserm.fr	GRCh37	1	65851490	65851490	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1594T																					ENST00000371069.4:c.896C>T	p.Pro299Leu	p.P299L	ENST00000371069	NM_001256864.1	299	cCc/cTc	0	not done		probablydamaging	
DNHD1		inserm.fr	GRCh37	11	6585908	6585908	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000254579.6:c.10630C>T	p.Pro3544Ser	p.P3544S	ENST00000254579	NM_144666.2	3544	Ccc/Tcc	0	not done		benign	
NOL9		inserm.fr	GRCh37	1	6585985	6585985	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000377705.5:c.2038G>A	p.Ala680Thr	p.A680T	ENST00000377705	NM_024654.4	680	Gca/Aca	0	not done		benign	
BPTF		inserm.fr	GRCh37	17	65888104	65888104	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2103T																					ENST00000306378.6:c.2009C>T	p.Ala670Val	p.A670V	ENST00000306378	NM_182641.3	670	gCa/gTa	0	not done		probablydamaging	
DNHD1		inserm.fr	GRCh37	11	6592913	6592913	+	synonymous_variant	Silent	SNP	G	T	T			CHC1055T																					ENST00000254579.6:c.13959G>T	p.Leu4653=	p.L4653=	ENST00000254579	NM_144666.2	4653	ctG/ctT	0	validated		synonymous	
GLDC		inserm.fr	GRCh37	9	6592974	6592974	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000321612.6:c.1278G>A	p.Gly426=	p.G426=	ENST00000321612	NM_000170.2	426	ggG/ggA	0	not done		synonymous	
NOL9		inserm.fr	GRCh37	1	6593374	6593374	+	synonymous_variant	Silent	SNP	G	T	T			BCM399T																					ENST00000377705.5:c.1203C>A	p.Ser401=	p.S401=	ENST00000377705	NM_024654.4	401	tcC/tcA	0	validated		synonymous	
SLC13A5		inserm.fr	GRCh37	17	6597465	6597465	+	synonymous_variant	Silent	SNP	A	T	T			CHC1192T																					ENST00000433363.2:c.1107T>A	p.Ile369=	p.I369=	ENST00000433363	NM_177550.3	369	atT/atA	0	not done		synonymous	
PACS1		inserm.fr	GRCh37	11	66008994	66008994	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000320580.4:c.2526C>T	p.Asp842=	p.D842=	ENST00000320580	NM_018026.3	842	gaC/gaT	0	validated		synonymous	
DENND4A		inserm.fr	GRCh37	15	66025157	66025157	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000443035.3:c.1041-1G>A		p.X347_splice	ENST00000443035	NM_001144823.1			0	not done		damaging	
KLC2		inserm.fr	GRCh37	11	66032662	66032662	+	synonymous_variant	Silent	SNP	C	T	T			CHC2358T																					ENST00000417856.1:c.1290C>T	p.Pro430=	p.P430=	ENST00000417856	NM_001134775.1	430	ccC/ccT	0	validated		synonymous	
KPNA2		inserm.fr	GRCh37	17	66040145	66040145	+	synonymous_variant	Silent	SNP	G	T	T			CHC097T																					ENST00000537025.2:c.1122G>T	p.Val374=	p.V374=	ENST00000537025		374	gtG/gtT	0	not done		synonymous	
MAST4		inserm.fr	GRCh37	5	66084585	66084585	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM439T																					ENST00000403625.2:c.605C>T	p.Ala202Val	p.A202V	ENST00000403625	NM_001164664.1	202	gCc/gTc	0	validated		benign	
RIN1		inserm.fr	GRCh37	11	66100023	66100023	+	synonymous_variant	Silent	SNP	C	T	T			BCM399T																					ENST00000311320.4:c.2076G>A	p.Arg692=	p.R692=	ENST00000311320	NM_004292.2	692	agG/agA	0	validated		synonymous	
RIN1		inserm.fr	GRCh37	11	66100038	66100038	+	synonymous_variant	Silent	SNP	C	T	T			CHC736T																					ENST00000311320.4:c.2061G>A	p.Gly687=	p.G687=	ENST00000311320	NM_004292.2	687	ggG/ggA	0	validated		synonymous	
RIN1		inserm.fr	GRCh37	11	66102258	66102258	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1744T																					ENST00000311320.4:c.1012C>A	p.Pro338Thr	p.P338T	ENST00000311320	NM_004292.2	338	Ccc/Acc	0	not done		probablydamaging	
RIN1		inserm.fr	GRCh37	11	66102495	66102495	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB109T																					ENST00000311320.4:c.775C>A	p.Pro259Thr	p.P259T	ENST00000311320	NM_004292.2	259	Cca/Aca	0	validated		probablydamaging	
MAN2B2		inserm.fr	GRCh37	4	6610935	6610935	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000285599.3:c.1916C>T	p.Pro639Leu	p.P639L	ENST00000285599	NM_015274.1	639	cCg/cTg	0	validated		probablydamaging	
NPAS4		inserm.fr	GRCh37	11	66190343	66190343	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000311034.2:c.629C>T	p.Ala210Val	p.A210V	ENST00000311034	NM_178864.3	210	gCc/gTc	0	not done		benign	
NPAS4		inserm.fr	GRCh37	11	66191575	66191575	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000311034.2:c.1214C>T	p.Pro405Leu	p.P405L	ENST00000311034	NM_178864.3	405	cCt/cTt	0	not done		benign	
NPAS4		inserm.fr	GRCh37	11	66192397	66192397	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000311034.2:c.2036C>T	p.Pro679Leu	p.P679L	ENST00000311034	NM_178864.3	679	cCc/cTc	0	not done		probablydamaging	
NPAS4		inserm.fr	GRCh37	11	66192601	66192601	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1035T									Valid												ENST00000311034.2:c.2240C>T	p.Ser747Phe	p.S747F	ENST00000311034	NM_178864.3	747	tCc/tTc	0	validated		probablydamaging	
EPHA5		inserm.fr	GRCh37	4	66197756	66197756	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000273854.3:c.2943G>A	p.Arg981=	p.R981=	ENST00000273854	NM_004439.5	981	cgG/cgA	0	not done		synonymous	
EYS		inserm.fr	GRCh37	6	66205063	66205063	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1732T																					ENST00000503581.1:c.241C>A	p.Gln81Lys	p.Q81K	ENST00000503581	NM_001142800.1	81	Caa/Aaa	0	not done		probablydamaging	
NCAPD2		inserm.fr	GRCh37	12	6626053	6626053	+	synonymous_variant	Silent	SNP	C	T	T			CHC1745T																					ENST00000315579.5:c.1047C>T	p.Leu349=	p.L349=	ENST00000315579	NM_014865.3	349	ctC/ctT	0	not done		synonymous	
B4GALNT3		inserm.fr	GRCh37	12	662609	662609	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1568T																					ENST00000266383.5:c.1520C>T	p.Pro507Leu	p.P507L	ENST00000266383	NM_173593.3	507	cCa/cTa	0	not done		probablydamaging	
B4GALNT3		inserm.fr	GRCh37	12	662709	662709	+	synonymous_variant	Silent	SNP	C	T	T			CHC909T																					ENST00000266383.5:c.1620C>T	p.Asn540=	p.N540=	ENST00000266383	NM_173593.3	540	aaC/aaT	0	not done		synonymous	
BBS1		inserm.fr	GRCh37	11	66291011	66291011	+	synonymous_variant	Silent	SNP	C	T	T			CHC889T																					ENST00000318312.7:c.915C>T	p.Gly305=	p.G305=	ENST00000318312	NM_024649.4	305	ggC/ggT	0	not done		synonymous	
INTS15		inserm.fr	GRCh37	7	6629953	6629953	+	synonymous_variant	Silent	SNP	G	T	T			CHC1052T																					ENST00000344417.5:c.39G>T	p.Ala13=	p.A13=	ENST00000344417	NM_024067.2	13	gcG/gcT	0	validated		synonymous	
ACTN3		inserm.fr	GRCh37	11	66325185	66325185	+	downstream_gene_variant	3'Flank	SNP	C	T	T			CHC1736T																								ENST00000504911				0	not done		probablydamaging	
ACTN3		inserm.fr	GRCh37	11	66325503	66325503	+	downstream_gene_variant	3'Flank	SNP	C	T	T			BCM723T																								ENST00000504911				0	validated		synonymous	
ARSG		inserm.fr	GRCh37	17	66343289	66343289	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB301T																					ENST00000448504.2:c.430G>T	p.Gly144Cys	p.G144C	ENST00000448504	NM_014960.4	144	Ggc/Tgc	0	validated		probablydamaging	
PDE4B		inserm.fr	GRCh37	1	66379040	66379040	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC1137T																					ENST00000329654.4:c.42+1G>T		p.X14_splice	ENST00000329654	NM_001037341.1			0	not done		possiblydamaging	
RBM14		inserm.fr	GRCh37	11	66391894	66391894	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM501T																					ENST00000310137.4:c.547G>T	p.Ala183Ser	p.A183S	ENST00000310137	NM_006328.3	183	Gcc/Tcc	0	validated		probablydamaging	
INTS15		inserm.fr	GRCh37	7	6639758	6639758	+	synonymous_variant	Silent	SNP	C	T	T			CHC1568T																					ENST00000344417.5:c.879C>T	p.Ser293=	p.S293=	ENST00000344417	NM_024067.2	293	agC/agT	0	not done		synonymous	
TMEM248		inserm.fr	GRCh37	7	66409984	66409984	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1708T																					ENST00000341567.4:c.181C>T	p.Arg61Trp	p.R61W	ENST00000341567	NM_017994.4	61	Cgg/Tgg	0	not done		probablydamaging	
CDH5		inserm.fr	GRCh37	16	66436721	66436721	+	synonymous_variant	Silent	SNP	C	T	T			CHC1602T																					ENST00000341529.3:c.2004C>T	p.Arg668=	p.R668=	ENST00000341529	NM_001795.3	668	cgC/cgT	0	not done		synonymous	
DCHS1		inserm.fr	GRCh37	11	6645494	6645494	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000299441.3:c.7413G>A	p.Gln2471=	p.Q2471=	ENST00000299441	NM_003737.2	2471	caG/caA	0	not done		synonymous	
ZBTB48		inserm.fr	GRCh37	1	6646030	6646030	+	synonymous_variant	Silent	SNP	C	T	T			CHC1035T																					ENST00000377674.4:c.984C>T	p.Tyr328=	p.Y328=	ENST00000377674	NM_001278648.1	328	taC/taT	0	validated		synonymous	
MAST4		inserm.fr	GRCh37	5	66460966	66460966	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T																					ENST00000403625.2:c.5959G>T	p.Ala1987Ser	p.A1987S	ENST00000403625	NM_001164664.1	1987	Gct/Tct	0	validated		benign	
SPTBN2		inserm.fr	GRCh37	11	66461281	66461281	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC703T																					ENST00000533211.1:c.4555G>A	p.Asp1519Asn	p.D1519N	ENST00000533211		1519	Gac/Aac	0	validated		benign	
GAPDH		inserm.fr	GRCh37	12	6646152	6646152	+	synonymous_variant	Silent	SNP	C	T	T			BCM791T																					ENST00000229239.5:c.303C>T	p.Val101=	p.V101=	ENST00000229239	NM_002046.4	101	gtC/gtT	0	validated		synonymous	
MAST4		inserm.fr	GRCh37	5	66461940	66461940	+	synonymous_variant	Silent	SNP	G	T	T			BCM723T																					ENST00000403625.2:c.6933G>T	p.Gly2311=	p.G2311=	ENST00000403625	NM_001164664.1	2311	ggG/ggT	0	validated		synonymous	
CD180		inserm.fr	GRCh37	5	66479382	66479382	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB157T																					ENST00000256447.4:c.1289C>A	p.Thr430Asn	p.T430N	ENST00000256447	NM_005582.2	430	aCc/aAc	0	validated		probablydamaging	
ZBTB48		inserm.fr	GRCh37	1	6649028	6649028	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC433T									Valid												ENST00000377674.4:c.1823C>T	p.Pro608Leu	p.P608L	ENST00000377674	NM_001278648.1	608	cCg/cTg	0	validated		possiblydamaging	
DCHS1		inserm.fr	GRCh37	11	6653663	6653663	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2321T																					ENST00000299441.3:c.3080C>A	p.Pro1027Gln	p.P1027Q	ENST00000299441	NM_003737.2	1027	cCa/cAa	0	validated		probablydamaging	
DCHS1		inserm.fr	GRCh37	11	6655504	6655504	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC314T									Valid												ENST00000299441.3:c.1831G>A	p.Gly611Ser	p.G611S	ENST00000299441	NM_003737.2	611	Ggc/Agc	0	validated		probablydamaging	
ZNF853		inserm.fr	GRCh37	7	6656931	6656931	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000457543.3:c.123C>T	p.Thr41=	p.T41=	ENST00000457543	NM_017560.1	41	acC/acT	0	not done		synonymous	
C11orf80		inserm.fr	GRCh37	11	66571583	66571583	+	synonymous_variant	Silent	SNP	G	T	T			CHC2034T																					ENST00000360962.4:c.960G>T	p.Leu320=	p.L320=	ENST00000360962	NM_024650.3	320	ctG/ctT	0	not done		synonymous	
B4GALNT3		inserm.fr	GRCh37	12	665800	665800	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2029T																					ENST00000266383.5:c.2148G>T	p.Leu716Phe	p.L716F	ENST00000266383	NM_173593.3	716	ttG/ttT	0	not done		probablydamaging	
IRAK3		inserm.fr	GRCh37	12	66603248	66603248	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000261233.4:c.329G>T	p.Ser110Ile	p.S110I	ENST00000261233	NM_007199.2	110	aGt/aTt	0	not done		benign	
C11orf80		inserm.fr	GRCh37	11	66610391	66610391	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM735T																					ENST00000360962.4:c.1819C>T	p.Arg607Cys	p.R607C	ENST00000360962	NM_024650.3	607	Cgc/Tgc	0	validated		possiblydamaging	
XAF1		inserm.fr	GRCh37	17	6661487	6661487	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM371T																					ENST00000361842.3:c.112G>T	p.Glu38Ter	p.E38*	ENST00000361842	NM_017523.3	38	Gag/Tag	0	validated		damaging	
DCHS1		inserm.fr	GRCh37	11	6662302	6662302	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000299441.3:c.543G>A	p.Ala181=	p.A181=	ENST00000299441	NM_003737.2	181	gcG/gcA	0	validated		synonymous	
DCHS1		inserm.fr	GRCh37	11	6662324	6662324	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1708T																					ENST00000299441.3:c.521G>A	p.Arg174His	p.R174H	ENST00000299441	NM_003737.2	174	cGt/cAt	0	not done		probablydamaging	
IRAK3		inserm.fr	GRCh37	12	66638289	66638289	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1708T																					ENST00000261233.4:c.911A>T	p.Gln304Leu	p.Q304L	ENST00000261233	NM_007199.2	304	cAg/cTg	0	not done		possiblydamaging	
IRAK3		inserm.fr	GRCh37	12	66639014	66639014	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1749T																					ENST00000261233.4:c.1286G>T	p.Arg429Leu	p.R429L	ENST00000261233	NM_007199.2	429	cGg/cTg	0	not done		possiblydamaging	
IFFO1		inserm.fr	GRCh37	12	6664726	6664726	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000356896.4:c.470G>A	p.Gly157Asp	p.G157D	ENST00000356896	NM_001039670.2	157	gGc/gAc	0	not done		possiblydamaging	
IFFO1		inserm.fr	GRCh37	12	6664923	6664923	+	synonymous_variant	Silent	SNP	C	T	T			CHC258T																					ENST00000356896.4:c.273G>A	p.Val91=	p.V91=	ENST00000356896	NM_001039670.2	91	gtG/gtA	0	validated		synonymous	
XKR5		inserm.fr	GRCh37	8	6669204	6669204	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC892T																					ENST00000518724.1:n.1728G>A		*576*	ENST00000518724				0	not done			
NOP2		inserm.fr	GRCh37	12	6672862	6672862	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000382421.3:c.705G>A	p.Lys235=	p.K235=	ENST00000382421	NM_001258309.1	235	aaG/aaA	0	not done		synonymous	
XKR5		inserm.fr	GRCh37	8	6682861	6682861	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC322T																					ENST00000518724.1:n.404G>A		*135*	ENST00000518724				0	validated		possiblydamaging	
PDE4B		inserm.fr	GRCh37	1	66838194	66838194	+	synonymous_variant	Silent	SNP	C	T	T			CHC1600T																					ENST00000329654.4:c.2044C>T	p.Leu682=	p.L682=	ENST00000329654	NM_001037341.1	682	Ctg/Ttg	0	not done		synonymous	
PDE4B		inserm.fr	GRCh37	1	66838242	66838242	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000329654.4:c.2092G>T	p.Gly698Ter	p.G698*	ENST00000329654	NM_001037341.1	698	Gga/Tga	0	not done		damaging	
NAE1		inserm.fr	GRCh37	16	66850892	66850892	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000290810.3:c.724G>A	p.Asp242Asn	p.D242N	ENST00000290810		242	Gac/Aac	0	not done		benign	
PCDH9		inserm.fr	GRCh37	13	66878860	66878860	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1708T																					ENST00000544246.1:c.3641T>A	p.Ile1214Asn	p.I1214N	ENST00000544246	NM_203487.2	1214	aTt/aAt	0	not done		possiblydamaging	
C3		inserm.fr	GRCh37	19	6693018	6693018	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000245907.6:c.3307G>A	p.Ala1103Thr	p.A1103T	ENST00000245907	NM_000064.2	1103	Gct/Act	0	not done		benign	
CDH16		inserm.fr	GRCh37	16	66945119	66945119	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1028T																					ENST00000299752.4:c.1890C>A	p.Asp630Glu	p.D630E	ENST00000299752	NM_001204744.1	630	gaC/gaA	0	not done		benign	
C3		inserm.fr	GRCh37	19	6694564	6694564	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000245907.6:c.3032G>A	p.Gly1011Glu	p.G1011E	ENST00000245907	NM_000064.2	1011	gGg/gAg	0	not done		probablydamaging	
DNAJC11		inserm.fr	GRCh37	1	6696246	6696246	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1600T																					ENST00000377577.5:c.1585T>A	p.Tyr529Asn	p.Y529N	ENST00000377577	NM_018198.3	529	Tat/Aat	0	not done		probablydamaging	
DNAJC11		inserm.fr	GRCh37	1	6697270	6697270	+	synonymous_variant	Silent	SNP	C	T	T			CHC327T																					ENST00000377577.5:c.1512G>A	p.Thr504=	p.T504=	ENST00000377577	NM_018198.3	504	acG/acA	0	validated		synonymous	
CES2		inserm.fr	GRCh37	16	66975484	66975484	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM695T																					ENST00000317091.4:c.1183G>T	p.Asp395Tyr	p.D395Y	ENST00000317091	NM_003869.5	395	Gac/Tac	0	validated		possiblydamaging	
ABCA9		inserm.fr	GRCh37	17	66982360	66982360	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000340001.4:c.4153G>A	p.Val1385Met	p.V1385M	ENST00000340001	NM_080283.3	1385	Gtg/Atg	0	not done		probablydamaging	
CES3		inserm.fr	GRCh37	16	67006889	67006889	+	synonymous_variant	Silent	SNP	C	T	T			CHC1747T																					ENST00000303334.4:c.1653C>T	p.Leu551=	p.L551=	ENST00000303334	NM_024922.5	551	ctC/ctT	0	not done		synonymous	
KDM2A		inserm.fr	GRCh37	11	67017626	67017626	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM371T																					ENST00000529006.2:c.2125G>T	p.Asp709Tyr	p.D709Y	ENST00000529006	NM_012308.2	709	Gat/Tat	0	validated		benign	
CHD4		inserm.fr	GRCh37	12	6701868	6701868	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC258T									Valid												ENST00000357008.2:c.2768G>A	p.Arg923Lys	p.R923K	ENST00000357008	NM_001273.2	923	aGg/aAg	0	validated		probablydamaging	
KBTBD8		inserm.fr	GRCh37	3	67053839	67053839	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC2208T																					ENST00000417314.2:c.448C>T	p.Gln150Ter	p.Q150*	ENST00000417314		150	Cag/Tag	0	not done		damaging	
TRIM55		inserm.fr	GRCh37	8	67064827	67064827	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T																					ENST00000315962.4:c.1201G>T	p.Ala401Ser	p.A401S	ENST00000315962	NM_184085.1	401	Gcc/Tcc	0	validated		benign	
SSH3		inserm.fr	GRCh37	11	67075070	67075070	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000308127.4:c.653G>T	p.Gly218Val	p.G218V	ENST00000308127	NM_017857.3	218	gGc/gTc	0	not done		probablydamaging	
SSH3		inserm.fr	GRCh37	11	67075371	67075371	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000308127.4:c.846G>T	p.Val282=	p.V282=	ENST00000308127	NM_017857.3	282	gtG/gtT	0	validated		synonymous	
ABCA6		inserm.fr	GRCh37	17	67085650	67085650	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000284425.2:c.3562G>A	p.Ala1188Thr	p.A1188T	ENST00000284425	NM_080284.2	1188	Gca/Aca	0	not done		benign	
CRH		inserm.fr	GRCh37	8	67089299	67089299	+	synonymous_variant	Silent	SNP	C	T	T			BCM325T																					ENST00000276571.3:c.414G>A	p.Arg138=	p.R138=	ENST00000276571	NM_000756.2	138	agG/agA	0	validated		synonymous	
ABCA6		inserm.fr	GRCh37	17	67101694	67101694	+	synonymous_variant	Silent	SNP	G	T	T			CHC1569T																					ENST00000284425.2:c.2649C>A	p.Ile883=	p.I883=	ENST00000284425	NM_080284.2	883	atC/atA	0	not done		synonymous	
ABCA6		inserm.fr	GRCh37	17	67132317	67132317	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000284425.2:c.376G>A	p.Gly126Arg	p.G126R	ENST00000284425	NM_080284.2	126	Gga/Aga	0	not done		possiblydamaging	
CLCF1		inserm.fr	GRCh37	11	67134939	67134939	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM703T																					ENST00000312438.7:c.175G>A	p.Gly59Arg	p.G59R	ENST00000312438	NM_013246.2	59	Ggg/Agg	0	validated		possiblydamaging	
ABCA10		inserm.fr	GRCh37	17	67161212	67161212	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM695T																					ENST00000269081.4:c.3175G>A	p.Val1059Ile	p.V1059I	ENST00000269081	NM_080282.3	1059	Gta/Ata	0	validated		benign	
CARNS1		inserm.fr	GRCh37	11	67185050	67185050	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000445895.2:c.176C>T	p.Ala59Val	p.A59V	ENST00000445895		59	gCc/gTc	0	not done			
ABCA10		inserm.fr	GRCh37	17	67187448	67187448	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000269081.4:c.1880G>A	p.Arg627Lys	p.R627K	ENST00000269081	NM_080282.3	627	aGg/aAg	0	not done		benign	
TRADD		inserm.fr	GRCh37	16	67190553	67190553	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000345057.4:c.11G>A	p.Gly4Glu	p.G4E	ENST00000345057	NM_003789.3	4	gGg/gAg	0	not done		possiblydamaging	
C3		inserm.fr	GRCh37	19	6719238	6719238	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000245907.6:c.251G>A	p.Gly84Asp	p.G84D	ENST00000245907	NM_000064.2	84	gGc/gAc	0	not done		possiblydamaging	
CABP4		inserm.fr	GRCh37	11	67225877	67225877	+	synonymous_variant	Silent	SNP	G	T	T			CHC2128T																					ENST00000325656.5:c.687G>T	p.Ala229=	p.A229=	ENST00000325656	NM_145200.3	229	gcG/gcT	0	not done		synonymous	
ABCA5		inserm.fr	GRCh37	17	67287445	67287445	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000392676.3:c.1518G>A	p.Glu506=	p.E506=	ENST00000392676		506	gaG/gaA	0	not done		synonymous	
WDR78		inserm.fr	GRCh37	1	67288201	67288201	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000371026.3:c.2340-1G>A		p.X780_splice	ENST00000371026	NM_024763.4			0	not done		damaging	
CABP2		inserm.fr	GRCh37	11	67290188	67290188	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000294288.4:c.43-1G>A		p.X15_splice	ENST00000294288	NM_016366.2			0	not done		damaging	
LPAR5		inserm.fr	GRCh37	12	6729384	6729384	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM339T																					ENST00000329858.4:c.1031C>A	p.Pro344Gln	p.P344Q	ENST00000329858	NM_020400.5	344	cCg/cAg	0	validated		benign	
ARHGAP28		inserm.fr	GRCh37	18	6729902	6729902	+	upstream_gene_variant	5'Flank	SNP	C	T	T			CHC892T																								ENST00000577327				0	not done			
PLEKHG4		inserm.fr	GRCh37	16	67314073	67314073	+	synonymous_variant	Silent	SNP	C	T	T			CHC1603T																					ENST00000360461.5:c.126C>T	p.His42=	p.H42=	ENST00000360461	NM_001129727.1	42	caC/caT	0	not done		synonymous	
PLEKHG4		inserm.fr	GRCh37	16	67314194	67314194	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000360461.5:c.247C>T	p.Gln83Ter	p.Q83*	ENST00000360461	NM_001129727.1	83	Cag/Tag	0	not done		damaging	
GSTP1		inserm.fr	GRCh37	11	67353884	67353884	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000398606.3:c.469C>T	p.Leu157=	p.L157=	ENST00000398606	NM_000852.3	157	Ctg/Ttg	0	not done		synonymous	
GPHN		inserm.fr	GRCh37	14	67389647	67389647	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1775T																					ENST00000478722.1:c.721G>T	p.Ala241Ser	p.A241S	ENST00000478722	NM_020806.4	241	Gct/Tct	0	validated		probablydamaging	
TBX10		inserm.fr	GRCh37	11	67399876	67399876	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1052T																					ENST00000335385.3:c.781G>A	p.Ala261Thr	p.A261T	ENST00000335385	NM_005995.4	261	Gcc/Acc	0	validated		benign	
ALDH3B2		inserm.fr	GRCh37	11	67431887	67431887	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000349015.3:c.853G>A	p.Ala285Thr	p.A285T	ENST00000349015	NM_000695.3	285	Gcc/Acc	0	not done		possiblydamaging	
OPHN1		inserm.fr	GRCh37	X	67454329	67454329	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000355520.5:c.486G>A	p.Glu162=	p.E162=	ENST00000355520	NM_002547.2	162	gaG/gaA	0	not done		damaging	
TRIP10		inserm.fr	GRCh37	19	6746527	6746527	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1756T																					ENST00000313285.8:c.1049A>T	p.Gln350Leu	p.Q350L	ENST00000313285	NM_004240.2	350	cAg/cTg	0	not done		benign	
ATP6V0D1		inserm.fr	GRCh37	16	67478564	67478564	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000290949.3:c.348G>A	p.Thr116=	p.T116=	ENST00000290949	NM_004691.4	116	acG/acA	0	not done		synonymous	
BMP2		inserm.fr	GRCh37	20	6751048	6751048	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1600T																					ENST00000378827.4:c.275C>T	p.Ser92Leu	p.S92L	ENST00000378827	NM_001200.2	92	tCa/tTa	0	not done		benign	
AGRP		inserm.fr	GRCh37	16	67517006	67517006	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000290953.2:c.138C>A	p.Gly46=	p.G46=	ENST00000290953	NM_001138.1	46	ggC/ggA	0	not done		synonymous	
GPHN		inserm.fr	GRCh37	14	67525461	67525461	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1595T																					ENST00000478722.1:c.1102G>T	p.Glu368Ter	p.E368*	ENST00000478722	NM_020806.4	368	Gag/Tag	0	validated		damaging	
GPHN		inserm.fr	GRCh37	14	67610141	67610141	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1744T																					ENST00000478722.1:c.1811C>T	p.Ser604Leu	p.S604L	ENST00000478722	NM_020806.4	604	tCa/tTa	0	not done		probablydamaging	
GPHN		inserm.fr	GRCh37	14	67647535	67647535	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1743T																					ENST00000478722.1:c.2191A>T	p.Ser731Cys	p.S731C	ENST00000478722	NM_020806.4	731	Agc/Tgc	0	not done		possiblydamaging	
OPHN1		inserm.fr	GRCh37	X	67652811	67652811	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1738T																					ENST00000355520.5:c.52T>A	p.Phe18Ile	p.F18I	ENST00000355520	NM_002547.2	18	Ttc/Atc	0	not done		probablydamaging	
IL23R		inserm.fr	GRCh37	1	67666567	67666567	+	synonymous_variant	Silent	SNP	C	T	T			CHC451T																					ENST00000347310.5:c.639C>T	p.His213=	p.H213=	ENST00000347310	NM_144701.2	213	caC/caT	0	not done		synonymous	
RLTPR		inserm.fr	GRCh37	16	67680157	67680157	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC703T																					ENST00000334583.6:c.318G>T	p.Gln106His	p.Q106H	ENST00000334583	NM_001013838.1	106	caG/caT	0	validated		probablydamaging	
PARD6A		inserm.fr	GRCh37	16	67695843	67695843	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM683T																					ENST00000219255.3:c.334C>T	p.Arg112Trp	p.R112W	ENST00000219255		112	Cgg/Tgg	0	validated		probablydamaging	
CAND1		inserm.fr	GRCh37	12	67696352	67696352	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC320T																					ENST00000545606.1:c.1250C>T	p.Ala417Val	p.A417V	ENST00000545606	NM_018448.3	417	gCa/gTa	0	validated		benign	
UNC93B1		inserm.fr	GRCh37	11	67771431	67771431	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1763T																					ENST00000227471.2:c.83G>A	p.Gly28Glu	p.G28E	ENST00000227471	NM_030930.2	28	gGg/gAg	0	validated		probablydamaging	
MPP5		inserm.fr	GRCh37	14	67787952	67787952	+	synonymous_variant	Silent	SNP	A	T	T			CHC314T																					ENST00000261681.4:c.1716A>T	p.Ile572=	p.I572=	ENST00000261681	NM_022474.3	572	atA/atT	0	validated		synonymous	
IL12RB2		inserm.fr	GRCh37	1	67794019	67794019	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2200T																					ENST00000262345.1:c.616C>T	p.Leu206Phe	p.L206F	ENST00000262345	NM_001559.2	206	Ctt/Ttt	0	not done		probablydamaging	
IL12RB2		inserm.fr	GRCh37	1	67795371	67795371	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1180T																					ENST00000262345.1:c.766C>T	p.Arg256Ter	p.R256*	ENST00000262345	NM_001559.2	256	Cga/Tga	0	validated		damaging	
PCDH9		inserm.fr	GRCh37	13	67801277	67801277	+	synonymous_variant	Silent	SNP	G	T	T			CHC1744T																					ENST00000544246.1:c.1296C>A	p.Thr432=	p.T432=	ENST00000544246	NM_203487.2	432	acC/acA	0	not done		synonymous	
IL12RB2		inserm.fr	GRCh37	1	67833647	67833647	+	synonymous_variant	Silent	SNP	C	T	T			CHC258T																					ENST00000262345.1:c.1398C>T	p.Asp466=	p.D466=	ENST00000262345	NM_001559.2	466	gaC/gaT	0	validated		synonymous	
DEFA6		inserm.fr	GRCh37	8	6783392	6783392	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM483T									Valid												ENST00000297436.2:c.166G>A	p.Asp56Asn	p.D56N	ENST00000297436	NM_001926.3	56	Gat/Aat	0	validated		probablydamaging	
CHKA		inserm.fr	GRCh37	11	67838292	67838292	+	synonymous_variant	Silent	SNP	C	T	T			CHC1717T																					ENST00000265689.4:c.663G>A	p.Leu221=	p.L221=	ENST00000265689	NM_001277.2	221	ttG/ttA	0	not done		synonymous	
TCF24		inserm.fr	GRCh37	8	67873806	67873806	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000563496.1:c.195G>A	p.Leu65=	p.L65=	ENST00000563496	NM_001193502.1	65	ctG/ctA	0	not done		synonymous	
STARD8		inserm.fr	GRCh37	X	67885353	67885353	+	synonymous_variant	Silent	SNP	C	T	T			CHC793T																					ENST00000374599.3:c.58C>T	p.Leu20=	p.L20=	ENST00000374599	NM_001142503.2	20	Ctg/Ttg	0	validated		synonymous	
OR2AG2		inserm.fr	GRCh37	11	6789970	6789970	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM545T																					ENST00000338569.2:c.219C>A	p.Phe73Leu	p.F73L	ENST00000338569	NM_001004490.1	73	ttC/ttA	0	validated		benign	
KDM4C		inserm.fr	GRCh37	9	6793127	6793127	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1744T																					ENST00000381309.3:c.139G>T	p.Ala47Ser	p.A47S	ENST00000381309	NM_015061.3	47	Gca/Tca	0	not done		possiblydamaging	
DEFA4		inserm.fr	GRCh37	8	6793653	6793653	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000297435.2:c.183G>A	p.Arg61=	p.R61=	ENST00000297435	NM_001925.1	61	agG/agA	0	not done		synonymous	
STARD8		inserm.fr	GRCh37	X	67937272	67937272	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1592T																					ENST00000374599.3:c.516G>T	p.Leu172Phe	p.L172F	ENST00000374599	NM_001142503.2	172	ttG/ttT	0	not done		possiblydamaging	
STARD8		inserm.fr	GRCh37	X	67937492	67937492	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB167T																					ENST00000374599.3:c.736C>T	p.Arg246Cys	p.R246C	ENST00000374599	NM_001142503.2	246	Cgc/Tgc	0	validated		benign	
STARD8		inserm.fr	GRCh37	X	67943846	67943846	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000374599.3:c.3077C>T	p.Pro1026Leu	p.P1026L	ENST00000374599	NM_001142503.2	1026	cCg/cTg	0	not done		benign	
PSMB10		inserm.fr	GRCh37	16	67968521	67968521	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC789T																					ENST00000358514.4:c.764T>A	p.Val255Glu	p.V255E	ENST00000358514	NM_002801.3	255	gTg/gAg	0	not done		possiblydamaging	
CSPP1		inserm.fr	GRCh37	8	67976681	67976681	+	synonymous_variant	Silent	SNP	C	T	T			CHC796T																					ENST00000262210.5:c.48C>T	p.Asp16=	p.D16=	ENST00000262210	NM_024790.6	16	gaC/gaT	0	validated		synonymous	
DPEP3		inserm.fr	GRCh37	16	68014175	68014175	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000268793.4:c.184G>A	p.Glu62Lys	p.E62K	ENST00000268793	NM_022357.3	62	Gag/Aag	0	not done		benign	
DPEP2		inserm.fr	GRCh37	16	68024826	68024826	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000412757.2:c.807G>A	p.Arg269=	p.R269=	ENST00000412757		269	cgG/cgA	0	not done		synonymous	
DPEP2		inserm.fr	GRCh37	16	68026014	68026014	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM321T									Valid												ENST00000412757.2:c.473G>A	p.Arg158His	p.R158H	ENST00000412757		158	cGc/cAc	0	validated		probablydamaging	
DPEP2		inserm.fr	GRCh37	16	68026458	68026458	+	synonymous_variant	Silent	SNP	G	T	T			CHC917T																					ENST00000412757.2:c.345C>A	p.Gly115=	p.G115=	ENST00000412757		115	ggC/ggA	0	validated		synonymous	
DDX28		inserm.fr	GRCh37	16	68055512	68055512	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000332395.5:c.1594G>A	p.Val532Met	p.V532M	ENST00000332395	NM_018380.3	532	Gtg/Atg	0	not done		probablydamaging	
OR2AG1		inserm.fr	GRCh37	11	6806328	6806328	+	synonymous_variant	Silent	SNP	C	T	T			CHC121T																					ENST00000307401.4:c.60C>T	p.Asp20=	p.D20=	ENST00000307401	NM_001004489.2	20	gaC/gaT	0	validated		synonymous	
SKOR1		inserm.fr	GRCh37	15	68114466	68114466	+	synonymous_variant	Silent	SNP	G	T	T			CHC902T																					ENST00000341418.5:c.228G>T	p.Pro76=	p.P76=	ENST00000341418	NM_001258024.1	76	ccG/ccT	0	not done		synonymous	
SKOR1		inserm.fr	GRCh37	15	68120399	68120399	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM275T																					ENST00000341418.5:c.1942C>T	p.Pro648Ser	p.P648S	ENST00000341418	NM_001258024.1	648	Cct/Tct	0	validated		benign	
ARFGEF1		inserm.fr	GRCh37	8	68137151	68137151	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC798T									Valid												ENST00000262215.3:c.4195G>A	p.Asp1399Asn	p.D1399N	ENST00000262215	NM_006421.4	1399	Gat/Aat	0	validated		probablydamaging	
VTI1B		inserm.fr	GRCh37	14	68141196	68141196	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM483T									Valid												ENST00000554659.1:c.11C>A	p.Ser4Tyr	p.S4Y	ENST00000554659	NM_006370.2	4	tCc/tAc	0	validated		possiblydamaging	
RDH12		inserm.fr	GRCh37	14	68193867	68193867	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000551171.1:c.618C>T	p.Ala206=	p.A206=	ENST00000551171	NM_152443.2	206	gcC/gcT	0	not done		synonymous	
NFATC3		inserm.fr	GRCh37	16	68225335	68225335	+	synonymous_variant	Silent	SNP	G	T	T			CHC2208T																					ENST00000346183.3:c.2763G>T	p.Gly921=	p.G921=	ENST00000346183	NM_173165.2	921	ggG/ggT	0	not done		synonymous	
ZFYVE26		inserm.fr	GRCh37	14	68270887	68270887	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000347230.4:c.1366G>A	p.Ala456Thr	p.A456T	ENST00000347230	NM_015346.3	456	Gcc/Acc	0	not done		benign	
WDR92		inserm.fr	GRCh37	2	68358519	68358519	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1747T																					ENST00000295121.6:c.925G>A	p.Gly309Ser	p.G309S	ENST00000295121	NM_138458.3	309	Ggt/Agt	0	not done		probablydamaging	
PPP6R3		inserm.fr	GRCh37	11	68367932	68367932	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1531T																					ENST00000393801.3:c.2162C>T	p.Ala721Val	p.A721V	ENST00000393801	NM_001164160.1	721	gCt/gTt	0	not done		probablydamaging	
PJA1		inserm.fr	GRCh37	X	68381805	68381805	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361478.1:c.1277G>A	p.Gly426Glu	p.G426E	ENST00000361478	NM_145119.3	426	gGg/gAg	0	not done		benign	
CENPC1		inserm.fr	GRCh37	4	68385216	68385216	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000273853.6:c.336G>A	p.Gln112=	p.Q112=	ENST00000273853	NM_001812.2	112	caG/caA	0	not done		synonymous	
COPS7A		inserm.fr	GRCh37	12	6840174	6840174	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC433T									Valid												ENST00000543155.1:c.797G>T	p.Gly266Val	p.G266V	ENST00000543155	NM_001164094.1	266	gGg/gTg	0	validated		possiblydamaging	
GAL		inserm.fr	GRCh37	11	68458449	68458449	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000265643.3:c.366G>T	p.Arg122=	p.R122=	ENST00000265643	NM_015973.3	122	cgG/cgT	0	validated		synonymous	
CCNB1		inserm.fr	GRCh37	5	68463887	68463887	+	synonymous_variant	Silent	SNP	C	T	T			CHC327T																					ENST00000256442.5:c.174C>T	p.Ala58=	p.A58=	ENST00000256442	NM_031966.3	58	gcC/gcT	0	validated		synonymous	
CALML4		inserm.fr	GRCh37	15	68497637	68497637	+	synonymous_variant	Silent	SNP	A	T	T			CHC793T																					ENST00000467889.1:c.78T>A	p.Thr26=	p.T26=	ENST00000467889	NM_033429.2	26	acT/acA	0	validated		synonymous	
CDK7		inserm.fr	GRCh37	5	68553957	68553957	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC898T																					ENST00000256443.3:c.385C>T	p.His129Tyr	p.H129Y	ENST00000256443	NM_001799.3	129	Cat/Tat	0	not done		probablydamaging	
IL26		inserm.fr	GRCh37	12	68619002	68619002	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1148T																					ENST00000229134.4:c.290T>A	p.Leu97Gln	p.L97Q	ENST00000229134	NM_018402.1	97	cTg/cAg	0	not done		possiblydamaging	
WLS		inserm.fr	GRCh37	1	68620788	68620788	+	synonymous_variant	Silent	SNP	C	T	T			BCM739T																					ENST00000354777.2:c.654G>A	p.Arg218=	p.R218=	ENST00000354777	NM_001002292.3	218	cgG/cgA	0	validated		synonymous	
ITGA11		inserm.fr	GRCh37	15	68661523	68661523	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC1714T																					ENST00000315757.7:c.264G>A	p.Leu88=	p.L88=	ENST00000315757	NM_001004439.1	88	ctG/ctA	0	not done		damaging	
IGHMBP2		inserm.fr	GRCh37	11	68675804	68675804	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	T	T			CHC2127T																					ENST00000255078.3:c.448A>T	p.Lys150Ter	p.K150*	ENST00000255078	NM_002180.2	150	Aaa/Taa	0	not done		damaging	
RAD17		inserm.fr	GRCh37	5	68706377	68706377	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			BCM257T																					ENST00000509734.1:c.1784G>T	p.Arg595Ile	p.R595I	ENST00000509734		595	aGa/aTa	0	validated		probablydamaging	
MDM1		inserm.fr	GRCh37	12	68709980	68709980	+	synonymous_variant	Silent	SNP	C	T	T			CHC898T																					ENST00000303145.7:c.1059G>A	p.Thr353=	p.T353=	ENST00000303145	NM_017440.4	353	acG/acA	0	not done		synonymous	
APLF		inserm.fr	GRCh37	2	68729875	68729875	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM371T									Valid												ENST00000303795.4:c.181C>T	p.Pro61Ser	p.P61S	ENST00000303795	NM_173545.2	61	Cca/Tca	0	validated		probablydamaging	
OCLN		inserm.fr	GRCh37	5	68805587	68805587	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2052T																					ENST00000355237.2:c.670G>T	p.Ala224Ser	p.A224S	ENST00000355237	NM_002538.3	224	Gct/Tct	0	not done		benign	
LAG3		inserm.fr	GRCh37	12	6883110	6883110	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2206T																					ENST00000203629.2:c.454C>T	p.His152Tyr	p.H152Y	ENST00000203629	NM_002286.5	152	Cac/Tac	0	validated		possiblydamaging	
CDH1		inserm.fr	GRCh37	16	68857324	68857324	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2034T																					ENST00000261769.5:c.1959G>T	p.Lys653Asn	p.K653N	ENST00000261769	NM_004360.3	653	aaG/aaT	0	not done		benign	
TMPRSS11F		inserm.fr	GRCh37	4	68925076	68925076	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000356291.2:c.1126G>A	p.Gly376Arg	p.G376R	ENST00000356291	NM_207407.2	376	Gga/Aga	0	not done		probablydamaging	
TMPRSS11F		inserm.fr	GRCh37	4	68934471	68934471	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T									Valid												ENST00000356291.2:c.620T>A	p.Val207Asp	p.V207D	ENST00000356291	NM_207407.2	207	gTc/gAc	0	validated		probablydamaging	
DEPDC1		inserm.fr	GRCh37	1	68948049	68948049	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1712T																					ENST00000456315.2:c.1442C>A	p.Ala481Asp	p.A481D	ENST00000456315	NM_001114120.1	481	gCt/gAt	0	not done		benign	
OR10A4		inserm.fr	GRCh37	11	6897977	6897977	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC121T									Valid												ENST00000379829.2:c.99G>T	p.Leu33Phe	p.L33F	ENST00000379829	NM_207186.2	33	ttG/ttT	0	validated		probablydamaging	
PREX2		inserm.fr	GRCh37	8	69005942	69005942	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM321T																					ENST00000288368.4:c.2353G>T	p.Asp785Tyr	p.D785Y	ENST00000288368	NM_024870.2	785	Gac/Tac	0	validated		benign	
CORO2B		inserm.fr	GRCh37	15	69018298	69018298	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000566799.1:c.1428C>T	p.Ser476=	p.S476=	ENST00000566799		476	agC/agT	0	not done		synonymous	
GRM7		inserm.fr	GRCh37	3	6903169	6903169	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC320T																					ENST00000357716.4:c.94G>T	p.Ala32Ser	p.A32S	ENST00000357716	NM_000844.3	32	Gcg/Tcg	0	validated		benign	
GRM7		inserm.fr	GRCh37	3	6903235	6903235	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000357716.4:c.160C>T	p.Leu54=	p.L54=	ENST00000357716	NM_000844.3	54	Ctg/Ttg	0	not done		synonymous	
GRM7		inserm.fr	GRCh37	3	6903330	6903330	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000357716.4:c.255C>T	p.Ala85=	p.A85=	ENST00000357716	NM_000844.3	85	gcC/gcT	0	not done		synonymous	
GRM7		inserm.fr	GRCh37	3	6903564	6903564	+	synonymous_variant	Silent	SNP	C	T	T			CHC1182T																					ENST00000357716.4:c.489C>T	p.Ile163=	p.I163=	ENST00000357716	NM_000844.3	163	atC/atT	0	not done		synonymous	
ALOX12		inserm.fr	GRCh37	17	6903782	6903782	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM269T																					ENST00000251535.6:c.935A>T	p.Gln312Leu	p.Q312L	ENST00000251535	NM_000697.2	312	cAg/cTg	0	validated		benign	
ARHGAP25		inserm.fr	GRCh37	2	69049495	69049495	+	synonymous_variant	Silent	SNP	C	T	T			CHC1754T																					ENST00000409202.3:c.1224C>T	p.Ser408=	p.S408=	ENST00000409202		408	agC/agT	0	not done		synonymous	
ARHGAP25		inserm.fr	GRCh37	2	69049728	69049728	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM371T																					ENST00000409202.3:c.1457C>T	p.Thr486Met	p.T486M	ENST00000409202		486	aCg/aTg	0	validated		probablydamaging	
ARHGAP25		inserm.fr	GRCh37	2	69049746	69049746	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000409202.3:c.1475G>T	p.Arg492Leu	p.R492L	ENST00000409202		492	cGc/cTc	0	not done		benign	
TANGO6		inserm.fr	GRCh37	16	69074282	69074282	+	synonymous_variant	Silent	SNP	G	T	T			CHC1211T																					ENST00000261778.1:c.3066G>T	p.Val1022=	p.V1022=	ENST00000261778	NM_024562.1	1022	gtG/gtT	0	not done		synonymous	
ANP32A		inserm.fr	GRCh37	15	69076742	69076742	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB109T																					ENST00000465139.2:c.520G>A	p.Glu174Lys	p.E174K	ENST00000465139	NM_006305.3	174	Gag/Aag	0	validated		benign	
ANP32A		inserm.fr	GRCh37	15	69079816	69079816	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1594T																					ENST00000465139.2:c.263C>A	p.Pro88Gln	p.P88Q	ENST00000465139	NM_006305.3	88	cCg/cAg	0	not done		probablydamaging	
ALOX12		inserm.fr	GRCh37	17	6909216	6909216	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC796T																					ENST00000251535.6:c.1288C>T	p.Arg430Cys	p.R430C	ENST00000251535	NM_000697.2	430	Cgt/Tgt	0	validated		benign	
BMP10		inserm.fr	GRCh37	2	69092859	69092859	+	synonymous_variant	Silent	SNP	C	T	T			CHC961T																					ENST00000295379.1:c.1179G>A	p.Lys393=	p.K393=	ENST00000295379	NM_014482.1	393	aaG/aaA	0	validated		synonymous	
PREX2		inserm.fr	GRCh37	8	69103979	69103979	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1774T																					ENST00000288368.4:c.4369A>T	p.Asn1457Tyr	p.N1457Y	ENST00000288368	NM_024870.2	1457	Aat/Tat	0	validated		possiblydamaging	
PREX2		inserm.fr	GRCh37	8	69104724	69104724	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC433T									Valid												ENST00000288368.4:c.4568C>T	p.Ala1523Val	p.A1523V	ENST00000288368	NM_024870.2	1523	gCc/gTc	0	validated		probablydamaging	
UBA3		inserm.fr	GRCh37	3	69110990	69110990	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000361055.4:c.885G>A	p.Arg295=	p.R295=	ENST00000361055	NM_003968.3	295	agG/agA	0	not done		synonymous	
ANP32A		inserm.fr	GRCh37	15	69113080	69113080	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1915T																					ENST00000465139.2:c.11G>A	p.Gly4Asp	p.G4D	ENST00000465139	NM_006305.3	4	gGc/gAc	0	validated		benign	
YTHDC1		inserm.fr	GRCh37	4	69203415	69203415	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1754T																					ENST00000344157.4:c.334G>A	p.Asp112Asn	p.D112N	ENST00000344157	NM_001031732.2	112	Gat/Aat	0	not done		probablydamaging	
MDM2		inserm.fr	GRCh37	12	69233426	69233426	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC306T																					ENST00000462284.1:c.1291A>T	p.Ser431Cys	p.S431C	ENST00000462284	NM_002392.5	431	Agt/Tgt	0	validated		probablydamaging	
CD4		inserm.fr	GRCh37	12	6923941	6923941	+	synonymous_variant	Silent	SNP	C	T	T			CHC1209T																					ENST00000011653.4:c.390C>T	p.Asp130=	p.D130=	ENST00000011653	NM_000616.4	130	gaC/gaT	0	not done		synonymous	
FRMD4B		inserm.fr	GRCh37	3	69242840	69242840	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000398540.3:c.1673G>A	p.Arg558Lys	p.R558K	ENST00000398540	NM_015123.1	558	aGg/aAg	0	not done		benign	
CPM		inserm.fr	GRCh37	12	69250431	69250431	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM695T																					ENST00000551568.1:c.1118T>A	p.Ile373Asn	p.I373N	ENST00000551568	NM_001005502.2	373	aTc/aAc	0	validated		benign	
BCL6B		inserm.fr	GRCh37	17	6929909	6929909	+	synonymous_variant	Silent	SNP	C	T	T			CHC896T																					ENST00000293805.5:c.1023C>T	p.Gly341=	p.G341=	ENST00000293805	NM_181844.3	341	ggC/ggT	0	not done		synonymous	
NOX5		inserm.fr	GRCh37	15	69320661	69320661	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000388866.3:c.281C>T	p.Pro94Leu	p.P94L	ENST00000388866	NM_024505.3	94	cCc/cTc	0	not done		benign	
NOX5		inserm.fr	GRCh37	15	69327813	69327813	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000388866.3:c.975C>T	p.Ser325=	p.S325=	ENST00000388866	NM_024505.3	325	tcC/tcT	0	not done		synonymous	
NOX5		inserm.fr	GRCh37	15	69339829	69339829	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000388866.3:c.1769G>T	p.Gly590Val	p.G590V	ENST00000388866	NM_024505.3	590	gGc/gTc	0	not done		probablydamaging	
EMR1		inserm.fr	GRCh37	19	6935034	6935034	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000312053.4:c.2326C>T	p.Leu776=	p.L776=	ENST00000312053	NM_001974.4	776	Ctg/Ttg	0	not done		synonymous	
C8orf34		inserm.fr	GRCh37	8	69358681	69358681	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1611T																					ENST00000518698.1:c.593C>T	p.Pro198Leu	p.P198L	ENST00000518698	NM_052958.2	198	cCg/cTg	0	not done		benign	
GPR162		inserm.fr	GRCh37	12	6935874	6935874	+	synonymous_variant	Silent	SNP	G	T	T			CHC1745T																					ENST00000311268.3:c.1272G>T	p.Arg424=	p.R424=	ENST00000311268	NM_019858.1	424	cgG/cgT	0	not done		synonymous	
CTNNA3		inserm.fr	GRCh37	10	69366679	69366679	+	synonymous_variant	Silent	SNP	A	T	T			CHC433T																					ENST00000433211.2:c.228T>A	p.Ile76=	p.I76=	ENST00000433211	NM_013266.2	76	atT/atA	0	validated		synonymous	
UGT2B17		inserm.fr	GRCh37	4	69403368	69403368	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC258T																					ENST00000317746.2:c.1568C>A	p.Thr523Lys	p.T523K	ENST00000317746	NM_001077.3	523	aCa/aAa	0	validated			
UGT2B17		inserm.fr	GRCh37	4	69416418	69416418	+	synonymous_variant	Silent	SNP	C	T	T			BCM703T																					ENST00000317746.2:c.1290G>A	p.Leu430=	p.L430=	ENST00000317746	NM_001077.3	430	ttG/ttA	0	validated		synonymous	
DGAT2L6		inserm.fr	GRCh37	X	69419175	69419175	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000333026.3:c.140C>T	p.Pro47Leu	p.P47L	ENST00000333026	NM_198512.1	47	cCc/cTc	0	not done		benign	
TERF2		inserm.fr	GRCh37	16	69419550	69419550	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000603068.1:c.199G>A	p.Ala67Thr	p.A67T	ENST00000603068		67	Gcc/Acc	0	not done		probablydamaging	
SLC16A11		inserm.fr	GRCh37	17	6945999	6945999	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1192T																					ENST00000308009.1:c.502C>A	p.Leu168Met	p.L168M	ENST00000308009	NM_153357.1	168	Ctg/Atg	0	validated		probablydamaging	
P2RY4		inserm.fr	GRCh37	X	69478844	69478844	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM695T																					ENST00000374519.2:c.631G>A	p.Val211Met	p.V211M	ENST00000374519	NM_002565.3	211	Gtg/Atg	0	validated		possiblydamaging	
PRSS57		inserm.fr	GRCh37	19	694887	694887	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000329267.7:c.163G>A	p.Gly55Ser	p.G55S	ENST00000329267	NM_214710.3	55	Ggc/Agc	0	not done		probablydamaging	
ARR3		inserm.fr	GRCh37	X	69501594	69501594	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000307959.8:c.1145C>T	p.Ala382Val	p.A382V	ENST00000307959	NM_004312.2	382	gCt/gTt	0	not done		benign	
DCAF5		inserm.fr	GRCh37	14	69521952	69521952	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000341516.5:c.1451G>A	p.Gly484Glu	p.G484E	ENST00000341516	NM_003861.2	484	gGg/gAg	0	not done		probablydamaging	
DNAJC12		inserm.fr	GRCh37	10	69565399	69565399	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000225171.2:c.444G>A	p.Glu148=	p.E148=	ENST00000225171	NM_021800.2	148	gaG/gaA	0	not done		synonymous	
KIF4A		inserm.fr	GRCh37	X	69606478	69606478	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1741T																					ENST00000374403.3:c.2045G>T	p.Arg682Met	p.R682M	ENST00000374403	NM_012310.4	682	aGg/aTg	0	not done		probablydamaging	
LAMA1		inserm.fr	GRCh37	18	6961666	6961666	+	synonymous_variant	Silent	SNP	G	T	T			CHC736T																					ENST00000389658.3:c.7545C>A	p.Ala2515=	p.A2515=	ENST00000389658	NM_005559.3	2515	gcC/gcA	0	validated		synonymous	
CPSF6		inserm.fr	GRCh37	12	69653877	69653877	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCB109T									Valid												ENST00000435070.2:c.1369C>T	p.Gln457Ter	p.Q457*	ENST00000435070	NM_007007.2	457	Caa/Taa	0	validated		damaging	
PAQR5		inserm.fr	GRCh37	15	69677188	69677188	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000340965.3:c.352C>T	p.Leu118=	p.L118=	ENST00000340965	NM_001104554.1	118	Ctg/Ttg	0	not done		synonymous	
UGT2B10		inserm.fr	GRCh37	4	69682172	69682172	+	synonymous_variant	Silent	SNP	C	T	T			CHC1756T																					ENST00000265403.7:c.435C>T	p.Asp145=	p.D145=	ENST00000265403	NM_001075.4	145	gaC/gaT	0	not done		synonymous	
UGT2B10		inserm.fr	GRCh37	4	69682260	69682260	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC917T																					ENST00000265403.7:c.523C>T	p.Pro175Ser	p.P175S	ENST00000265403	NM_001075.4	175	Cct/Tct	0	validated		benign	
USP5		inserm.fr	GRCh37	12	6970779	6970779	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC1044T																					ENST00000229268.8:c.1671C>T	p.Val557=	p.V557=	ENST00000229268	NM_001098536.1	557	gtC/gtT	0	not done		synonymous	
DLG3		inserm.fr	GRCh37	X	69712055	69712055	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1556T																					ENST00000374360.3:c.1619A>T	p.Asp540Val	p.D540V	ENST00000374360	NM_021120.3	540	gAt/gTt	0	not done		benign	
LAMA1		inserm.fr	GRCh37	18	6973055	6973055	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC1598T																					ENST00000389658.3:c.6774+1G>A		p.X2258_splice	ENST00000389658	NM_005559.3			0	not done		possiblydamaging	
NQO1		inserm.fr	GRCh37	16	69745048	69745048	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC218T																					ENST00000320623.5:c.656C>A	p.Thr219Lys	p.T219K	ENST00000320623	NM_000903.2	219	aCa/aAa	0	validated		benign	
TEX11		inserm.fr	GRCh37	X	69748990	69748990	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000395889.2:c.2778G>A	p.Lys926=	p.K926=	ENST00000395889	NM_001003811.1	926	aaG/aaA	0	not done		synonymous	
TPI1		inserm.fr	GRCh37	12	6976702	6976702	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM321T																					ENST00000229270.4:c.83C>T	p.Thr28Ile	p.T28I	ENST00000229270	NM_001159287.1	28	aCt/aTt	0	validated			
BAI3		inserm.fr	GRCh37	6	69772854	69772854	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM275T									Valid												ENST00000370598.1:c.2362A>T	p.Ile788Phe	p.I788F	ENST00000370598	NM_001704.2	788	Atc/Ttc	0	validated		probablydamaging	
ZNF215		inserm.fr	GRCh37	11	6977424	6977424	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM337T																					ENST00000278319.5:c.1216C>T	p.Pro406Ser	p.P406S	ENST00000278319	NM_013250.2	406	Ccc/Tcc	0	validated		probablydamaging	
NOB1		inserm.fr	GRCh37	16	69778910	69778910	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000268802.5:c.835G>A	p.Asp279Asn	p.D279N	ENST00000268802	NM_014062.2	279	Gac/Aac	0	not done		benign	
UGT2A3		inserm.fr	GRCh37	4	69795673	69795673	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1746T																					ENST00000251566.4:c.1442T>A	p.Leu481His	p.L481H	ENST00000251566	NM_024743.3	481	cTc/cAc	0	not done		probablydamaging	
UGT2A3		inserm.fr	GRCh37	4	69795792	69795792	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1751T																					ENST00000251566.4:c.1323G>A	p.Met441Ile	p.M441I	ENST00000251566	NM_024743.3	441	atG/atA	0	validated		probablydamaging	
GALNT16		inserm.fr	GRCh37	14	69800217	69800217	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000337827.4:c.867G>T	p.Thr289=	p.T289=	ENST00000337827	NM_020692.2	289	acG/acT	0	not done		synonymous	
CLEC10A		inserm.fr	GRCh37	17	6982075	6982075	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000254868.4:c.57G>A	p.Gly19=	p.G19=	ENST00000254868	NM_182906.2	19	ggG/ggA	0	not done		synonymous	
FRS2		inserm.fr	GRCh37	12	69964231	69964231	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC902T																					ENST00000299293.2:c.187C>T	p.Arg63Ter	p.R63*	ENST00000299293	NM_001278353.1	63	Cga/Tga	0	not done		damaging	
WWP2		inserm.fr	GRCh37	16	69965460	69965460	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000359154.2:c.1570C>T	p.Leu524Phe	p.L524F	ENST00000359154	NM_001270454.1	524	Ctt/Ttt	0	validated		probablydamaging	
FRS2		inserm.fr	GRCh37	12	69968166	69968166	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC205T																					ENST00000299293.2:c.958G>T	p.Val320Phe	p.V320F	ENST00000299293	NM_001278353.1	320	Gtc/Ttc	0	validated		benign	
ATOH7		inserm.fr	GRCh37	10	69991224	69991224	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000373673.3:c.211G>A	p.Gly71Ser	p.G71S	ENST00000373673	NM_145178.3	71	Ggc/Agc	0	not done		possiblydamaging	
LAMA1		inserm.fr	GRCh37	18	6999568	6999568	+	synonymous_variant	Silent	SNP	C	T	T			CHC1742T																					ENST00000389658.3:c.4539G>A	p.Pro1513=	p.P1513=	ENST00000389658	NM_005559.3	1513	ccG/ccA	0	not done		synonymous	
LRRC10		inserm.fr	GRCh37	12	70003864	70003864	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000361484.3:c.755C>A	p.Ala252Asp	p.A252D	ENST00000361484	NM_201550.2	252	gCc/gAc	0	not done		benign	
BAI3		inserm.fr	GRCh37	6	70040404	70040404	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000370598.1:c.3042G>T	p.Trp1014Cys	p.W1014C	ENST00000370598	NM_001704.2	1014	tgG/tgT	0	not done		probablydamaging	
BEST3		inserm.fr	GRCh37	12	70048928	70048928	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000330891.5:c.1766G>A	p.Arg589Lys	p.R589K	ENST00000330891	NM_032735.2	589	aGg/aAg	0	not done		benign	
ASGR2		inserm.fr	GRCh37	17	7004921	7004921	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000380952.2:c.909G>A	p.Arg303=	p.R303=	ENST00000380952	NM_080912.3	303	agG/agA	0	not done		synonymous	
GMCL1		inserm.fr	GRCh37	2	70088436	70088436	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000282570.3:c.1099C>T	p.Gln367Ter	p.Q367*	ENST00000282570	NM_178439.3	367	Cag/Tag	0	not done		damaging	
LRRC23		inserm.fr	GRCh37	12	7015015	7015015	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1624T																					ENST00000007969.8:c.133C>T	p.Pro45Ser	p.P45S	ENST00000007969	NM_201650.2	45	Ccc/Tcc	0	validated		benign	
ASPRV1		inserm.fr	GRCh37	2	70188172	70188172	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM791T																					ENST00000320256.4:c.649G>A	p.Val217Ile	p.V217I	ENST00000320256	NM_152792.2	217	Gtc/Atc	0	validated		probablydamaging	
PPFIA1		inserm.fr	GRCh37	11	70194459	70194459	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1040T																					ENST00000253925.7:c.2096G>T	p.Arg699Leu	p.R699L	ENST00000253925	NM_003626.3	699	cGc/cTc	0	not done		probablydamaging	
CBLN2		inserm.fr	GRCh37	18	70209193	70209193	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000269503.4:c.203G>A	p.Cys68Tyr	p.C68Y	ENST00000269503	NM_182511.3	68	tGc/tAc	0	not done		probablydamaging	
NAIP		inserm.fr	GRCh37	5	70307168	70307168	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000517649.1:c.602G>A	p.Gly201Asp	p.G201D	ENST00000517649	NM_004536.2	201	gGt/gAt	0	not done		probablydamaging	
TMEM80		inserm.fr	GRCh37	11	703132	703132	+	synonymous_variant	Silent	SNP	C	T	T			CHC1534T																					ENST00000608174.1:c.489C>T	p.Ile163=	p.I163=	ENST00000608174	NM_001042463.2	163	atC/atT	0	validated		synonymous	
SHANK2		inserm.fr	GRCh37	11	70319373	70319373	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC320T																					ENST00000338508.4:c.5154G>A	p.Met1718Ile	p.M1718I	ENST00000338508		1718	atG/atA	0	validated		benign	
FOXO4		inserm.fr	GRCh37	X	70321331	70321331	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000374259.3:c.1251G>T	p.Lys417Asn	p.K417N	ENST00000374259	NM_005938.3	417	aaG/aaT	0	not done		benign	
IL2RG		inserm.fr	GRCh37	X	70328160	70328160	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000374202.2:c.891G>A	p.Glu297=	p.E297=	ENST00000374202	NM_000206.2	297	gaG/gaA	0	not done		synonymous	
MYRFL		inserm.fr	GRCh37	12	70330260	70330260	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC909T																					ENST00000535034.1:c.167C>T	p.Pro56Leu	p.P56L	ENST00000535034		56	cCg/cTg	0	not done			
TET1		inserm.fr	GRCh37	10	70332992	70332992	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000373644.4:c.897C>T	p.Thr299=	p.T299=	ENST00000373644	NM_030625.2	299	acC/acT	0	not done		synonymous	
LAMA1		inserm.fr	GRCh37	18	7037672	7037672	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2115T																					ENST00000389658.3:c.1642G>A	p.Gly548Arg	p.G548R	ENST00000389658	NM_005559.3	548	Ggg/Agg	0	not done		benign	
ST3GAL2		inserm.fr	GRCh37	16	70422340	70422340	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1594T																					ENST00000393640.4:c.643G>A	p.Val215Met	p.V215M	ENST00000393640		215	Gtg/Atg	0	not done		probablydamaging	
TIA1		inserm.fr	GRCh37	2	70444098	70444098	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC801T																					ENST00000433529.2:c.503G>A	p.Gly168Asp	p.G168D	ENST00000433529	NM_022173.2	168	gGt/gAt	0	not done		benign	
LRRC7		inserm.fr	GRCh37	1	70446102	70446102	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB157T									Valid												ENST00000035383.5:c.638G>T	p.Trp213Leu	p.W213L	ENST00000035383	NM_020794.2	213	tGg/tTg	0	validated		probablydamaging	
UGT2A1		inserm.fr	GRCh37	4	70455266	70455266	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000457664.2:c.1435G>A	p.Gly479Arg	p.G479R	ENST00000457664	NM_001105677.2	479	Gga/Aga	0	not done		probablydamaging	
UGT2A1		inserm.fr	GRCh37	4	70460895	70460895	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1207T																					ENST00000457664.2:c.1096C>A	p.Gln366Lys	p.Q366K	ENST00000457664	NM_001105677.2	366	Cag/Aag	0	not done		probablydamaging	
LMBRD1		inserm.fr	GRCh37	6	70500235	70500235	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370577.3:c.199G>A	p.Asp67Asn	p.D67N	ENST00000370577	NM_018368.3	67	Gat/Aat	0	not done		probablydamaging	
LRRC7		inserm.fr	GRCh37	1	70501851	70501851	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000035383.5:c.1929C>T	p.His643=	p.H643=	ENST00000035383	NM_020794.2	643	caC/caT	0	not done		synonymous	
LRRC7		inserm.fr	GRCh37	1	70503862	70503862	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000035383.5:c.2241C>T	p.Pro747=	p.P747=	ENST00000035383	NM_020794.2	747	ccC/ccT	0	not done		synonymous	
LRRC7		inserm.fr	GRCh37	1	70504700	70504700	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC197T									Valid												ENST00000035383.5:c.3079G>T	p.Val1027Phe	p.V1027F	ENST00000035383	NM_020794.2	1027	Gtc/Ttc	0	validated		probablydamaging	
LRRC7		inserm.fr	GRCh37	1	70505035	70505035	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000035383.5:c.3414C>T	p.Pro1138=	p.P1138=	ENST00000035383	NM_020794.2	1138	ccC/ccT	0	not done		synonymous	
SHANK2		inserm.fr	GRCh37	11	70507808	70507808	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000338508.4:c.1857-25G>A		*619*	ENST00000338508				0	not done			
SULF1		inserm.fr	GRCh37	8	70515878	70515878	+	synonymous_variant	Silent	SNP	C	T	T			CHC1192T																					ENST00000260128.4:c.1234C>T	p.Leu412=	p.L412=	ENST00000260128	NM_015170.2	412	Cta/Tta	0	not done		synonymous	
NONO		inserm.fr	GRCh37	X	70518593	70518593	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000276079.8:c.1208C>T	p.Pro403Leu	p.P403L	ENST00000276079	NM_007363.4	403	cCt/cTt	0	not done		benign	
ITGB1BP2		inserm.fr	GRCh37	X	70521997	70521997	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000373829.3:c.75C>T	p.Cys25=	p.C25=	ENST00000373829	NM_012278.1	25	tgC/tgT	0	not done		synonymous	
SF3B3		inserm.fr	GRCh37	16	70563091	70563091	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000302516.5:c.386C>T	p.Ala129Val	p.A129V	ENST00000302516	NM_012426.4	129	gCc/gTc	0	not done		probablydamaging	
SF3B3		inserm.fr	GRCh37	16	70582331	70582331	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC322T									Valid												ENST00000302516.5:c.1388G>T	p.Arg463Leu	p.R463L	ENST00000302516	NM_012426.4	463	cGt/cTt	0	validated		possiblydamaging	
TAF1		inserm.fr	GRCh37	X	70587388	70587388	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000276072.3:c.220C>T	p.Leu74=	p.L74=	ENST00000276072		74	Ctg/Ttg	0	not done		synonymous	
TAF1		inserm.fr	GRCh37	X	70597605	70597605	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1192T																					ENST00000276072.3:c.927G>T	p.Gln309His	p.Q309H	ENST00000276072		309	caG/caT	0	not done		benign	
LRRC40		inserm.fr	GRCh37	1	70618214	70618214	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000370952.3:c.1341G>A	p.Leu447=	p.L447=	ENST00000370952	NM_017768.4	447	ctG/ctA	0	not done		synonymous	
TAF1		inserm.fr	GRCh37	X	70627523	70627523	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC1775T																					ENST00000276072.3:c.4266+1G>T		p.X1422_splice	ENST00000276072				0	validated		damaging	
SLC8A3		inserm.fr	GRCh37	14	70634043	70634043	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000381269.2:c.1097G>A	p.Gly366Asp	p.G366D	ENST00000381269	NM_183002.1	366	gGc/gAc	0	not done		probablydamaging	
STOX1		inserm.fr	GRCh37	10	70644659	70644659	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC434T									Valid												ENST00000298596.6:c.1107G>T	p.Leu369Phe	p.L369F	ENST00000298596	NM_152709.4	369	ttG/ttT	0	validated		probablydamaging	
DDX50		inserm.fr	GRCh37	10	70666602	70666602	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC892T																					ENST00000373585.3:c.223G>T	p.Glu75Ter	p.E75*	ENST00000373585	NM_024045.1	75	Gaa/Taa	0	not done		damaging	
KLHL1		inserm.fr	GRCh37	13	70681419	70681419	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC429T									Valid												ENST00000377844.4:c.413C>A	p.Pro138Gln	p.P138Q	ENST00000377844	NM_020866.2	138	cCa/cAa	0	not done		benign	
GRPEL1		inserm.fr	GRCh37	4	7069736	7069736	+	synonymous_variant	Silent	SNP	C	T	T			CHC912T																					ENST00000264954.4:c.24G>A	p.Leu8=	p.L8=	ENST00000264954	NM_025196.2	8	ttG/ttA	0	validated		synonymous	
CNOT2		inserm.fr	GRCh37	12	70731202	70731202	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1745T																					ENST00000229195.3:c.809C>T	p.Ser270Phe	p.S270F	ENST00000229195	NM_014515.5	270	tCc/tTc	0	not done		possiblydamaging	
OGT		inserm.fr	GRCh37	X	70777045	70777045	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			BCM337T																					ENST00000373719.3:c.1321G>T	p.Asp441Tyr	p.D441Y	ENST00000373719	NM_181673.2	441	Gat/Tat	0	validated		probablydamaging	
BDP1		inserm.fr	GRCh37	5	70798588	70798588	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T																					ENST00000358731.4:c.2211G>T	p.Lys737Asn	p.K737N	ENST00000358731	NM_018429.2	737	aaG/aaT	0	validated		benign	
WBSCR17		inserm.fr	GRCh37	7	70800714	70800714	+	synonymous_variant	Silent	SNP	C	T	T			CHC432T																					ENST00000333538.5:c.417C>T	p.Pro139=	p.P139=	ENST00000333538	NM_022479.2	139	ccC/ccT	0	not done		synonymous	
LAMA1		inserm.fr	GRCh37	18	7080380	7080380	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000389658.3:c.138G>A	p.Pro46=	p.P46=	ENST00000389658	NM_005559.3	46	ccG/ccA	0	validated		synonymous	
LAMA1		inserm.fr	GRCh37	18	7080383	7080383	+	synonymous_variant	Silent	SNP	C	T	T			CHC1154T																					ENST00000389658.3:c.135G>A	p.Gly45=	p.G45=	ENST00000389658	NM_005559.3	45	ggG/ggA	0	not done		synonymous	
KCNMB4		inserm.fr	GRCh37	12	70824323	70824323	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1603T																					ENST00000258111.4:c.523C>T	p.Leu175Phe	p.L175F	ENST00000258111	NM_014505.5	175	Ctc/Ttc	0	not done		probablydamaging	
SRGN		inserm.fr	GRCh37	10	70847960	70847960	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC912T																					ENST00000242465.3:c.47C>T	p.Ala16Val	p.A16V	ENST00000242465	NM_002727.2	16	gCc/gTc	0	validated		benign	
HYDIN		inserm.fr	GRCh37	16	70852358	70852358	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC051T																					ENST00000393567.2:c.14545T>A	p.Ser4849Thr	p.S4849T	ENST00000393567	NM_001270974.1	4849	Tca/Aca	0	validated		benign	
COL19A1		inserm.fr	GRCh37	6	70878065	70878065	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	T	T			CHC896T																					ENST00000322773.4:c.2499A>T	p.Gly833=	p.G833=	ENST00000322773	NM_001858.4	833	ggA/ggT	0	not done		synonymous	
WBSCR17		inserm.fr	GRCh37	7	70880986	70880986	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000333538.5:c.701G>T	p.Trp234Leu	p.W234L	ENST00000333538	NM_022479.2	234	tGg/tTg	0	not done		probablydamaging	
WBSCR17		inserm.fr	GRCh37	7	70880987	70880987	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000333538.5:c.702G>T	p.Trp234Cys	p.W234C	ENST00000333538	NM_022479.2	234	tgG/tgT	0	not done		probablydamaging	
CTH		inserm.fr	GRCh37	1	70897823	70897823	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM483T									Valid												ENST00000370938.3:c.782C>T	p.Thr261Ile	p.T261I	ENST00000370938	NM_001902.5	261	aCt/aTt	0	validated		probablydamaging	
HYDIN		inserm.fr	GRCh37	16	70905975	70905975	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM735T																					ENST00000393567.2:c.11056T>A	p.Trp3686Arg	p.W3686R	ENST00000393567	NM_001270974.1	3686	Tgg/Agg	0	validated		probablydamaging	
PTPRB		inserm.fr	GRCh37	12	70929898	70929898	+	synonymous_variant	Silent	SNP	C	T	T			CHC1704T																					ENST00000334414.6:c.5988G>A	p.Pro1996=	p.P1996=	ENST00000334414	NM_001109754.2	1996	ccG/ccA	0	not done		synonymous	
PTPRB		inserm.fr	GRCh37	12	70933726	70933726	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2048T																					ENST00000334414.6:c.5671C>A	p.Gln1891Lys	p.Q1891K	ENST00000334414	NM_001109754.2	1891	Cag/Aag	0	not done		probablydamaging	
SLC39A11		inserm.fr	GRCh37	17	70943971	70943971	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000542342.2:c.350G>A	p.Gly117Asp	p.G117D	ENST00000542342	NM_001159770.1	117	gGc/gAc	0	not done		benign	
PTPRB		inserm.fr	GRCh37	12	70956773	70956773	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000334414.6:c.4019C>A	p.Pro1340Gln	p.P1340Q	ENST00000334414	NM_001109754.2	1340	cCa/cAa	0	not done		probablydamaging	
PTPRB		inserm.fr	GRCh37	12	70974876	70974876	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000334414.6:c.2518G>A	p.Val840Met	p.V840M	ENST00000334414	NM_001109754.2	840	Gtg/Atg	0	not done		probablydamaging	
HYDIN		inserm.fr	GRCh37	16	70986357	70986357	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000393567.2:c.6498G>A	p.Lys2166=	p.K2166=	ENST00000393567	NM_001270974.1	2166	aaG/aaA	0	not done		synonymous	
HKDC1		inserm.fr	GRCh37	10	71008474	71008474	+	synonymous_variant	Silent	SNP	G	T	T			CHC1754T																					ENST00000354624.5:c.1560G>T	p.Pro520=	p.P520=	ENST00000354624	NM_025130.3	520	ccG/ccT	0	not done		synonymous	
HKDC1		inserm.fr	GRCh37	10	71018638	71018638	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000354624.5:c.2139C>T	p.Asp713=	p.D713=	ENST00000354624	NM_025130.3	713	gaC/gaT	0	not done		synonymous	
FOXP1		inserm.fr	GRCh37	3	71019887	71019887	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000318789.4:c.1722G>A	p.Gln574=	p.Q574=	ENST00000318789	NM_032682.5	574	caG/caA	0	not done		damaging	
CLEC4F		inserm.fr	GRCh37	2	71043960	71043960	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1154T																					ENST00000272367.2:c.553G>A	p.Glu185Lys	p.E185K	ENST00000272367	NM_001258027.1	185	Gaa/Aaa	0	not done		benign	
CLEC4F		inserm.fr	GRCh37	2	71044063	71044063	+	synonymous_variant	Silent	SNP	C	T	T			CHC1616T																					ENST00000272367.2:c.450G>A	p.Gln150=	p.Q150=	ENST00000272367	NM_001258027.1	150	caG/caA	0	not done		synonymous	
PTPRR		inserm.fr	GRCh37	12	71056275	71056275	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000283228.2:c.1608G>A	p.Lys536=	p.K536=	ENST00000283228	NM_002849.3	536	aaG/aaA	0	not done		damaging	
PGM5		inserm.fr	GRCh37	9	71144494	71144494	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000396396.1:c.1626C>T	p.Ser542=	p.S542=	ENST00000396396	NM_021965.3	542	agC/agT	0	not done		synonymous	
VAX2		inserm.fr	GRCh37	2	71148268	71148268	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000234392.2:c.288C>T	p.Gly96=	p.G96=	ENST00000234392	NM_012476.2	96	ggC/ggT	0	not done		synonymous	
TACR2		inserm.fr	GRCh37	10	71176004	71176004	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1209T																					ENST00000373306.4:c.76T>A	p.Phe26Ile	p.F26I	ENST00000373306	NM_001057.2	26	Ttc/Atc	0	not done		probablydamaging	
NADSYN1		inserm.fr	GRCh37	11	71208573	71208573	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2098T																					ENST00000319023.2:c.1809A>T	p.Lys603Asn	p.K603N	ENST00000319023	NM_018161.4	603	aaA/aaT	0	not done		benign	
SMR3A		inserm.fr	GRCh37	4	71232419	71232419	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000226460.4:c.113C>T	p.Pro38Leu	p.P38L	ENST00000226460	NM_012390.3	38	cCt/cTt	0	not done		benign	
TSPAN15		inserm.fr	GRCh37	10	71243599	71243599	+	synonymous_variant	Silent	SNP	G	T	T			CHC1154T																					ENST00000373290.2:c.249G>T	p.Ala83=	p.A83=	ENST00000373290	NM_012339.3	83	gcG/gcT	0	not done		synonymous	
HYDIN		inserm.fr	GRCh37	16	71264547	71264547	+	5_prime_UTR_variant	5'UTR	SNP	C	T	T			CHC1736T																					ENST00000393567.2:c.-106G>A		*36*	ENST00000393567	NM_001270974.1			0	not done			
MAP3K9		inserm.fr	GRCh37	14	71267581	71267581	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000555993.2:c.623G>A	p.Gly208Glu	p.G208E	ENST00000555993	NM_033141.2	208	gGg/gAg	0	not done		probablydamaging	
WDR90		inserm.fr	GRCh37	16	712781	712781	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000293879.4:c.4248G>T	p.Thr1416=	p.T1416=	ENST00000293879		1416	acG/acT	0	not done		synonymous	
ACADVL		inserm.fr	GRCh37	17	7128403	7128403	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC433T									Valid												ENST00000543245.2:c.2024C>T	p.Pro675Leu	p.P675L	ENST00000543245	NM_001270447.1	675	cCa/cTa	0	validated		probablydamaging	
KRTAP5-11		inserm.fr	GRCh37	11	71293818	71293818	+	synonymous_variant	Silent	SNP	C	T	T			CHC2112T																					ENST00000398530.1:c.66G>A	p.Gly22=	p.G22=	ENST00000398530	NM_001005405.2	22	ggG/ggA	0	not done		synonymous	
FTSJD1		inserm.fr	GRCh37	16	71317624	71317624	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000338099.5:c.2200G>A	p.Ala734Thr	p.A734T	ENST00000338099		734	Gcc/Acc	0	not done		benign	
FTSJD1		inserm.fr	GRCh37	16	71317725	71317725	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM529T																					ENST00000338099.5:c.2099G>A	p.Arg700Gln	p.R700Q	ENST00000338099		700	cGa/cAa	0	validated		benign	
SDK2		inserm.fr	GRCh37	17	71334858	71334858	+	synonymous_variant	Silent	SNP	G	T	T			CHC1207T																					ENST00000392650.3:c.6387C>A	p.Pro2129=	p.P2129=	ENST00000392650	NM_001144952.1	2129	ccC/ccA	0	not done		synonymous	
RGAG4		inserm.fr	GRCh37	X	71350625	71350625	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1747T																					ENST00000545866.1:c.766G>A	p.Asp256Asn	p.D256N	ENST00000545866	NM_001024455.3	256	Gat/Aat	0	not done		probablydamaging	
RGAG4		inserm.fr	GRCh37	X	71351004	71351004	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000545866.1:c.387G>A	p.Pro129=	p.P129=	ENST00000545866	NM_001024455.3	129	ccG/ccA	0	not done		synonymous	
SDK2		inserm.fr	GRCh37	17	71354279	71354279	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCM337T									Valid												ENST00000392650.3:c.5532G>A	p.Trp1844Ter	p.W1844*	ENST00000392650	NM_001144952.1	1844	tgG/tgA	0	validated		damaging	
NHSL2		inserm.fr	GRCh37	X	71359586	71359586	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000540800.1:c.2188C>T	p.Leu730=	p.L730=	ENST00000540800	NM_001013627.2	730	Ctg/Ttg	0	not done		synonymous	
MPHOSPH10		inserm.fr	GRCh37	2	71360700	71360700	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1603T																					ENST00000244230.2:c.762A>T	p.Lys254Asn	p.K254N	ENST00000244230	NM_005791.2	254	aaA/aaT	0	not done		benign	
SDK2		inserm.fr	GRCh37	17	71386480	71386480	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000392650.3:c.4138C>A	p.Arg1380Ser	p.R1380S	ENST00000392650	NM_001144952.1	1380	Cgc/Agc	0	not done		possiblydamaging	
PHF23		inserm.fr	GRCh37	17	7139274	7139274	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM337T																					ENST00000320316.3:c.972G>A	p.Met324Ile	p.M324I	ENST00000320316	NM_024297.2	324	atG/atA	0	validated		benign	
FAM122A		inserm.fr	GRCh37	9	71395594	71395594	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2206T																					ENST00000394264.3:c.514C>T	p.Pro172Ser	p.P172S	ENST00000394264	NM_138333.3	172	Cca/Tca	0	not done		probablydamaging	
CALB2		inserm.fr	GRCh37	16	71406103	71406103	+	synonymous_variant	Silent	SNP	C	T	T			CHC1708T																					ENST00000302628.4:c.142C>T	p.Leu48=	p.L48=	ENST00000302628	NM_001740.4	48	Ctg/Ttg	0	not done		synonymous	
ERCC6L		inserm.fr	GRCh37	X	71426030	71426030	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1556T																					ENST00000334463.3:c.2587G>A	p.Glu863Lys	p.E863K	ENST00000334463	NM_017669.2	863	Gaa/Aaa	0	not done		benign	
INSR		inserm.fr	GRCh37	19	7142980	7142980	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T																					ENST00000302850.5:c.2389C>A	p.Pro797Thr	p.P797T	ENST00000302850	NM_000208.2	797	Cct/Act	0	validated		benign	
SDK2		inserm.fr	GRCh37	17	71434231	71434231	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2052T																					ENST00000392650.3:c.788G>A	p.Ser263Asn	p.S263N	ENST00000392650	NM_001144952.1	263	aGt/aAt	0	not done		benign	
PCNX		inserm.fr	GRCh37	14	71445354	71445354	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000304743.2:c.2300C>T	p.Ala767Val	p.A767V	ENST00000304743	NM_014982.2	767	gCa/gTa	0	not done		benign	
SDK2		inserm.fr	GRCh37	17	71452077	71452077	+	synonymous_variant	Silent	SNP	C	T	T			CHC917T																					ENST00000392650.3:c.447G>A	p.Arg149=	p.R149=	ENST00000392650	NM_001144952.1	149	cgG/cgA	0	validated		synonymous	
SDK2		inserm.fr	GRCh37	17	71452108	71452108	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000392650.3:c.416G>A	p.Ser139Asn	p.S139N	ENST00000392650	NM_001144952.1	139	aGc/aAc	0	not done		probablydamaging	
PTGER3		inserm.fr	GRCh37	1	71478120	71478120	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC326T									Valid												ENST00000356595.4:c.945C>A	p.Cys315Ter	p.C315*	ENST00000356595	NM_198718.1	315	tgC/tgA	0	validated		damaging	
CALN1		inserm.fr	GRCh37	7	71488685	71488685	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC889T																					ENST00000395275.2:c.458G>A	p.Arg153His	p.R153H	ENST00000395275	NM_031468.3	153	cGc/cAc	0	not done		possiblydamaging	
MAP1B		inserm.fr	GRCh37	5	71490870	71490870	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1744T																					ENST00000296755.7:c.1688A>T	p.Glu563Val	p.E563V	ENST00000296755	NM_005909.3	563	gAa/gTa	0	not done		probablydamaging	
MAP1B		inserm.fr	GRCh37	5	71493185	71493185	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000296755.7:c.4003C>T	p.Pro1335Ser	p.P1335S	ENST00000296755	NM_005909.3	1335	Cct/Tct	0	not done		probablydamaging	
MAP1B		inserm.fr	GRCh37	5	71493785	71493785	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM321T																					ENST00000296755.7:c.4603G>T	p.Asp1535Tyr	p.D1535Y	ENST00000296755	NM_005909.3	1535	Gat/Tat	0	validated		probablydamaging	
MAP1B		inserm.fr	GRCh37	5	71493825	71493825	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM617T																					ENST00000296755.7:c.4643G>T	p.Gly1548Val	p.G1548V	ENST00000296755	NM_005909.3	1548	gGt/gTt	0	validated		probablydamaging	
FAM86C1		inserm.fr	GRCh37	11	71498601	71498601	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC218T																					ENST00000359244.4:c.19G>T	p.Ala7Ser	p.A7S	ENST00000359244	NM_018172.2	7	Gcg/Tcg	0	validated		possiblydamaging	
PIP5K1B		inserm.fr	GRCh37	9	71509508	71509508	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1545T																					ENST00000265382.3:c.725C>T	p.Thr242Met	p.T242M	ENST00000265382	NM_003558.3	242	aCg/aTg	0	not done		possiblydamaging	
ZNF19		inserm.fr	GRCh37	16	71509509	71509509	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM269T																					ENST00000288177.5:c.941C>A	p.Ser314Tyr	p.S314Y	ENST00000288177	NM_006961.3	314	tCc/tAc	0	validated		probablydamaging	
PTGER3		inserm.fr	GRCh37	1	71512620	71512620	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000356595.4:c.641G>A	p.Arg214Gln	p.R214Q	ENST00000356595	NM_198718.1	214	cGa/cAa	0	not done		benign	
PTGER3		inserm.fr	GRCh37	1	71512658	71512658	+	synonymous_variant	Silent	SNP	G	T	T			CHC889T																					ENST00000356595.4:c.603C>A	p.Val201=	p.V201=	ENST00000356595	NM_198718.1	201	gtC/gtA	0	not done		synonymous	
PIP5K1B		inserm.fr	GRCh37	9	71532488	71532488	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2215T																					ENST00000265382.3:c.796G>T	p.Asp266Tyr	p.D266Y	ENST00000265382	NM_003558.3	266	Gat/Tat	0	not done		probablydamaging	
THSD4		inserm.fr	GRCh37	15	71535417	71535417	+	synonymous_variant	Silent	SNP	C	T	T			CHC1741T																					ENST00000355327.3:c.894C>T	p.Tyr298=	p.Y298=	ENST00000355327		298	taC/taT	0	not done		synonymous	
CALN1		inserm.fr	GRCh37	7	71571273	71571273	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1611T																					ENST00000395275.2:c.251G>A	p.Arg84Gln	p.R84Q	ENST00000395275	NM_031468.3	84	cGa/cAa	0	not done		probablydamaging	
ZNF638		inserm.fr	GRCh37	2	71577167	71577167	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000409544.1:c.1083C>T	p.Asn361=	p.N361=	ENST00000409544	NM_001252612.1	361	aaC/aaT	0	validated		synonymous	
PTCD2		inserm.fr	GRCh37	5	71616282	71616282	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC892T																					ENST00000380639.5:c.73G>T	p.Val25Leu	p.V25L	ENST00000380639	NM_024754.3	25	Gtg/Ttg	0	not done		benign	
ZNF638		inserm.fr	GRCh37	2	71650948	71650948	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2215T																					ENST00000409544.1:c.4304A>T	p.Lys1435Met	p.K1435M	ENST00000409544	NM_001252612.1	1435	aAg/aTg	0	not done		probablydamaging	
ZNF638		inserm.fr	GRCh37	2	71654035	71654035	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000409544.1:c.5036G>T	p.Arg1679Leu	p.R1679L	ENST00000409544	NM_001252612.1	1679	cGc/cTc	0	not done		probablydamaging	
GRSF1		inserm.fr	GRCh37	4	71705513	71705513	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1712T																					ENST00000254799.6:c.32T>A	p.Leu11Gln	p.L11Q	ENST00000254799	NM_002092.3	11	cTg/cAg	0	not done		probablydamaging	
IL18BP		inserm.fr	GRCh37	11	71712265	71712265	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM229T									Valid												ENST00000404792.1:c.254C>T	p.Ser85Phe	p.S85F	ENST00000404792	NM_173042.2	85	tCc/tTc	0	validated		probablydamaging	
IL18BP		inserm.fr	GRCh37	11	71712314	71712314	+	synonymous_variant	Silent	SNP	G	T	T			CHC2110Tbis																					ENST00000404792.1:c.303G>T	p.Leu101=	p.L101=	ENST00000404792	NM_173042.2	101	ctG/ctT	0	not done		synonymous	
NUMA1		inserm.fr	GRCh37	11	71715050	71715050	+	synonymous_variant	Silent	SNP	C	T	T			CHC1751T																					ENST00000393695.3:c.6219G>A	p.Leu2073=	p.L2073=	ENST00000393695	NM_006185.2	2073	ctG/ctA	0	not done		synonymous	
EIF4E3		inserm.fr	GRCh37	3	71743033	71743033	+	synonymous_variant	Silent	SNP	G	T	T			CHC327T																					ENST00000425534.3:c.465C>A	p.Ala155=	p.A155=	ENST00000425534	NM_001134651.1	155	gcC/gcA	0	validated		synonymous	
ZNF366		inserm.fr	GRCh37	5	71752314	71752314	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1763T																					ENST00000318442.5:c.1441C>A	p.Leu481Ile	p.L481I	ENST00000318442	NM_152625.1	481	Ctc/Atc	0	not done		probablydamaging	
ZNF366		inserm.fr	GRCh37	5	71756712	71756712	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000318442.5:c.612G>A	p.Leu204=	p.L204=	ENST00000318442	NM_152625.1	204	ctG/ctA	0	not done		synonymous	
GPR27		inserm.fr	GRCh37	3	71803765	71803765	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000304411.2:c.565C>T	p.Leu189=	p.L189=	ENST00000304411	NM_018971.1	189	Ctg/Ttg	0	not done		synonymous	
GPR27		inserm.fr	GRCh37	3	71803848	71803848	+	synonymous_variant	Silent	SNP	C	T	T			CHC2111T																					ENST00000304411.2:c.648C>T	p.Pro216=	p.P216=	ENST00000304411	NM_018971.1	216	ccC/ccT	0	validated		synonymous	
GPR27		inserm.fr	GRCh37	3	71803871	71803871	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1152T																					ENST00000304411.2:c.671G>T	p.Ser224Ile	p.S224I	ENST00000304411	NM_018971.1	224	aGc/aTc	0	validated		probablydamaging	
ANAPC15		inserm.fr	GRCh37	11	71821589	71821589	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC2358T																					ENST00000227618.4:c.180+1G>A		p.X60_splice	ENST00000227618	NM_001278485.1			0	validated		damaging	
AIFM2		inserm.fr	GRCh37	10	71874013	71874013	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1741T																					ENST00000307864.1:c.1043G>A	p.Arg348Gln	p.R348Q	ENST00000307864	NM_032797.5	348	cGg/cAg	0	not done		possiblydamaging	
C1R		inserm.fr	GRCh37	12	7187991	7187991	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000542285.1:c.1807G>A	p.Gly603Arg	p.G603R	ENST00000542285		603	Ggg/Agg	0	not done		probablydamaging	
DYSF		inserm.fr	GRCh37	2	71883394	71883394	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM739T																					ENST00000410020.3:c.4729G>T	p.Asp1577Tyr	p.D1577Y	ENST00000410020	NM_001130987.1	1577	Gat/Tat	0	validated		probablydamaging	
C1R		inserm.fr	GRCh37	12	7188390	7188390	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000542285.1:c.1408G>A	p.Gly470Ser	p.G470S	ENST00000542285		470	Ggc/Agc	0	not done		probablydamaging	
TYSND1		inserm.fr	GRCh37	10	71906173	71906173	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC303T									Valid												ENST00000287078.6:c.170T>A	p.Leu57Gln	p.L57Q	ENST00000287078	NM_173555.3	57	cTg/cAg	0	validated		probablydamaging	
FOLR1		inserm.fr	GRCh37	11	71906696	71906696	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM275T									Valid												ENST00000393679.1:c.398C>T	p.Pro133Leu	p.P133L	ENST00000393679		133	cCc/cTc	0	validated		probablydamaging	
FOLR1		inserm.fr	GRCh37	11	71907189	71907189	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000393679.1:c.742C>T	p.Leu248=	p.L248=	ENST00000393679		248	Ctg/Ttg	0	not done		synonymous	
SAR1A		inserm.fr	GRCh37	10	71917615	71917615	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000373242.2:c.253G>A	p.Val85Ile	p.V85I	ENST00000373242	NM_001142648.1	85	Gtt/Att	0	not done		benign	
YBX2		inserm.fr	GRCh37	17	7192149	7192149	+	synonymous_variant	Silent	SNP	G	T	T			CHC361TA																					ENST00000007699.5:c.1053C>A	p.Ala351=	p.A351=	ENST00000007699	NM_015982.3	351	gcC/gcA	0	validated		synonymous	
INPPL1		inserm.fr	GRCh37	11	71946372	71946372	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000298229.2:c.2536G>T	p.Gly846Cys	p.G846C	ENST00000298229	NM_001567.3	846	Ggc/Tgc	0	not done		probablydamaging	
IST1		inserm.fr	GRCh37	16	71954670	71954670	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM375T									Valid												ENST00000535424.1:c.425G>T	p.Ser142Ile	p.S142I	ENST00000535424		142	aGc/aTc	0	validated		probablydamaging	
YBX2		inserm.fr	GRCh37	17	7196842	7196842	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000007699.5:c.287G>A	p.Gly96Asp	p.G96D	ENST00000007699	NM_015982.3	96	gGc/gAc	0	not done		probablydamaging	
DACH1		inserm.fr	GRCh37	13	72014818	72014818	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000305425.4:c.2096G>A	p.Arg699Lys	p.R699K	ENST00000305425	NM_080759.4	699	aGa/aAa	0	not done		possiblydamaging	
NPFFR1		inserm.fr	GRCh37	10	72014931	72014931	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000277942.6:c.1075G>A	p.Ala359Thr	p.A359T	ENST00000277942	NM_022146.4	359	Gcc/Acc	0	not done		benign	
PKD1L3		inserm.fr	GRCh37	16	72016001	72016001	+	non_coding_transcript_exon_variant	RNA	SNP	G	T	T			CHC1531T																					ENST00000534738.1:n.1100C>A		*367*	ENST00000534738				0	not done		probablydamaging	
CLPB		inserm.fr	GRCh37	11	72018284	72018284	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000294053.3:c.1171G>A	p.Ala391Thr	p.A391T	ENST00000294053	NM_001258394.1	391	Gcc/Acc	0	not done		probablydamaging	
ZFC3H1		inserm.fr	GRCh37	12	72020186	72020186	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000378743.3:c.4171G>A	p.Ala1391Thr	p.A1391T	ENST00000378743	NM_144982.4	1391	Gcg/Acg	0	not done		possiblydamaging	
NPFFR1		inserm.fr	GRCh37	10	72020455	72020455	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000277942.6:c.363G>A	p.Leu121=	p.L121=	ENST00000277942	NM_022146.4	121	ttG/ttA	0	not done		synonymous	
DACH1		inserm.fr	GRCh37	13	72049919	72049919	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2351T																					ENST00000305425.4:c.1939G>A	p.Glu647Lys	p.E647K	ENST00000305425	NM_080759.4	647	Gag/Aag	0	not done		probablydamaging	
ZFC3H1		inserm.fr	GRCh37	12	72057025	72057025	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC258T																					ENST00000378743.3:c.366C>A	p.Ser122Arg	p.S122R	ENST00000378743	NM_144982.4	122	agC/agA	0	validated		benign	
DACH1		inserm.fr	GRCh37	13	72063248	72063248	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000305425.4:c.1609G>A	p.Asp537Asn	p.D537N	ENST00000305425	NM_080759.4	537	Gac/Aac	0	not done		benign	
EYA1		inserm.fr	GRCh37	8	72127953	72127953	+	synonymous_variant	Silent	SNP	A	T	T			CHC794T																					ENST00000340726.3:c.1371T>A	p.Gly457=	p.G457=	ENST00000340726	NM_000503.4	457	ggT/ggA	0	validated		synonymous	
EYA1		inserm.fr	GRCh37	8	72128969	72128969	+	synonymous_variant	Silent	SNP	G	T	T			CHC1743T																					ENST00000340726.3:c.1318C>A	p.Arg440=	p.R440=	ENST00000340726	NM_000503.4	440	Cgg/Agg	0	not done		synonymous	
DACH1		inserm.fr	GRCh37	13	72134043	72134043	+	synonymous_variant	Silent	SNP	C	T	T			CHC902T																					ENST00000305425.4:c.1350G>A	p.Glu450=	p.E450=	ENST00000305425	NM_080759.4	450	gaG/gaA	0	not done		synonymous	
LRRC20		inserm.fr	GRCh37	10	72136245	72136245	+	synonymous_variant	Silent	SNP	C	T	T			CHC1708T																					ENST00000355790.4:c.45G>A	p.Lys15=	p.K15=	ENST00000355790	NM_207119.2	15	aaG/aaA	0	not done		synonymous	
SIPA1L1		inserm.fr	GRCh37	14	72139195	72139195	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC051T									Valid												ENST00000555818.1:c.2960G>T	p.Gly987Val	p.G987V	ENST00000555818	NM_015556.1	987	gGg/gTg	0	validated		probablydamaging	
PMFBP1		inserm.fr	GRCh37	16	72158710	72158710	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000237353.10:c.2545G>A	p.Glu849Lys	p.E849K	ENST00000237353	NM_031293.2	849	Gag/Aag	0	not done		probablydamaging	
DACH1		inserm.fr	GRCh37	13	72204829	72204829	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000305425.4:c.991G>A	p.Ala331Thr	p.A331T	ENST00000305425	NM_080759.4	331	Gca/Aca	0	not done		probablydamaging	
FCHO2		inserm.fr	GRCh37	5	72251935	72251935	+	synonymous_variant	Silent	SNP	G	T	T			CHC1192T																					ENST00000430046.2:c.12G>T	p.Ala4=	p.A4=	ENST00000430046	NM_138782.2	4	gcG/gcT	0	not done		synonymous	
DNAI2		inserm.fr	GRCh37	17	72278000	72278000	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC155T									Valid												ENST00000446837.2:c.44G>T	p.Gly15Val	p.G15V	ENST00000446837		15	gGg/gTg	0	validated		probablydamaging	
DNAI2		inserm.fr	GRCh37	17	72278001	72278001	+	synonymous_variant	Silent	SNP	G	T	T			CHC155T																					ENST00000446837.2:c.45G>T	p.Gly15=	p.G15=	ENST00000446837		15	ggG/ggT	0	validated		synonymous	
PDE2A		inserm.fr	GRCh37	11	72290650	72290650	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000334456.5:c.2184G>A	p.Arg728=	p.R728=	ENST00000334456	NM_002599.4	728	agG/agA	0	not done		synonymous	
PALD1		inserm.fr	GRCh37	10	72294192	72294192	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1736T																					ENST00000263563.6:c.1034C>T	p.Thr345Met	p.T345M	ENST00000263563	NM_014431.2	345	aCg/aTg	0	not done		benign	
PALD1		inserm.fr	GRCh37	10	72300983	72300983	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000263563.6:c.2034C>T	p.Ala678=	p.A678=	ENST00000263563	NM_014431.2	678	gcC/gcT	0	not done		synonymous	
ZNF407		inserm.fr	GRCh37	18	72346040	72346040	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC794T									Valid												ENST00000299687.5:c.3065G>T	p.Cys1022Phe	p.C1022F	ENST00000299687	NM_017757.2	1022	tGt/tTt	0	validated		probablydamaging	
KIF19		inserm.fr	GRCh37	17	72348430	72348430	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2128T																					ENST00000389916.4:c.1931G>T	p.Ser644Ile	p.S644I	ENST00000389916	NM_153209.3	644	aGc/aTc	0	not done		benign	
BTBD17		inserm.fr	GRCh37	17	72353483	72353483	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000375366.3:c.750G>A	p.Arg250=	p.R250=	ENST00000375366	NM_001080466.1	250	cgG/cgA	0	not done		synonymous	
BTBD17		inserm.fr	GRCh37	17	72353707	72353707	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM339T																					ENST00000375366.3:c.526G>A	p.Ala176Thr	p.A176T	ENST00000375366	NM_001080466.1	176	Gcg/Acg	0	validated		probablydamaging	
BTBD17		inserm.fr	GRCh37	17	72356163	72356163	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000375366.3:c.307G>A	p.Glu103Lys	p.E103K	ENST00000375366	NM_001080466.1	103	Gag/Aag	0	validated		possiblydamaging	
PRF1		inserm.fr	GRCh37	10	72358442	72358442	+	synonymous_variant	Silent	SNP	G	T	T			CHC1739T																					ENST00000441259.1:c.1035C>A	p.Pro345=	p.P345=	ENST00000441259	NM_005041.4	345	ccC/ccA	0	not done		synonymous	
CYP26B1		inserm.fr	GRCh37	2	72360220	72360220	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000001146.2:c.1078G>A	p.Glu360Lys	p.E360K	ENST00000001146	NM_019885.3	360	Gag/Aag	0	not done		probablydamaging	
GPR142		inserm.fr	GRCh37	17	72363888	72363888	+	splice_donor_variant	Splice_Site	SNP	G	T	T			BCM439T									Valid												ENST00000335666.4:c.243+1G>T		p.X81_splice	ENST00000335666	NM_181790.1			0	validated		damaging	
GPR142		inserm.fr	GRCh37	17	72366693	72366693	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000335666.4:c.392C>T	p.Pro131Leu	p.P131L	ENST00000335666	NM_181790.1	131	cCc/cTc	0	not done		benign	
CYP26B1		inserm.fr	GRCh37	2	72371170	72371170	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000001146.2:c.377G>A	p.Gly126Asp	p.G126D	ENST00000001146	NM_019885.3	126	gGc/gAc	0	not done		possiblydamaging	
ARAP1		inserm.fr	GRCh37	11	72409030	72409030	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000393609.3:c.2663G>A	p.Gly888Asp	p.G888D	ENST00000393609	NM_001040118.2	888	gGc/gAc	0	not done		possiblydamaging	
POM121		inserm.fr	GRCh37	7	72413908	72413908	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC703T																					ENST00000395270.1:c.2581G>T	p.Ala861Ser	p.A861S	ENST00000395270	NM_001257190.2	861	Gct/Tct	0	validated		possiblydamaging	
POM121		inserm.fr	GRCh37	7	72413909	72413909	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC703T																					ENST00000395270.1:c.2582C>T	p.Ala861Val	p.A861V	ENST00000395270	NM_001257190.2	861	gCt/gTt	0	validated		possiblydamaging	
DACH1		inserm.fr	GRCh37	13	72440894	72440894	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1601T																					ENST00000305425.4:c.14C>A	p.Ala5Glu	p.A5E	ENST00000305425	NM_080759.4	5	gCg/gAg	0	not done		probablydamaging	
CFAP95		inserm.fr	GRCh37	9	72459519	72459519	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2216T																					ENST00000377197.3:c.239G>T	p.Arg80Leu	p.R80L	ENST00000377197	NM_001010940.1	80	cGa/cTa	0	not done		probablydamaging	
RREB1		inserm.fr	GRCh37	6	7246686	7246686	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1191T																					ENST00000379938.2:c.4003G>T	p.Ala1335Ser	p.A1335S	ENST00000379938	NM_001003700.1	1335	Gcc/Tcc	0	not done		benign	
TMEM174		inserm.fr	GRCh37	5	72469985	72469985	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000296776.5:c.725C>T	p.Pro242Leu	p.P242L	ENST00000296776	NM_153217.2	242	cCt/cTt	0	not done		possiblydamaging	
ADAMTS14		inserm.fr	GRCh37	10	72494997	72494997	+	synonymous_variant	Silent	SNP	C	T	T			CHC437T																					ENST00000373208.1:c.1434C>T	p.Asn478=	p.N478=	ENST00000373208	NM_139155.2	478	aaC/aaT	0	not done		synonymous	
ADAMTS14		inserm.fr	GRCh37	10	72511880	72511880	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC896T																					ENST00000373208.1:c.2635C>T	p.Arg879Cys	p.R879C	ENST00000373208	NM_139155.2	879	Cgc/Tgc	0	not done		probablydamaging	
CD300C		inserm.fr	GRCh37	17	72541910	72541910	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000330793.1:c.12G>A	p.Arg4=	p.R4=	ENST00000330793	NM_006678.4	4	agG/agA	0	not done		synonymous	
EPS8L2		inserm.fr	GRCh37	11	725836	725836	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM683T																					ENST00000533256.1:c.1669C>T	p.Pro557Ser	p.P557S	ENST00000533256		557	Ccg/Tcg	0	validated		benign	
CD300LD		inserm.fr	GRCh37	17	72584913	72584913	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375352.1:c.116G>A	p.Cys39Tyr	p.C39Y	ENST00000375352	NM_001115152.1	39	tGt/tAt	0	not done		probablydamaging	
SGPL1		inserm.fr	GRCh37	10	72633246	72633246	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2098T																					ENST00000373202.3:c.1198A>T	p.Ile400Phe	p.I400F	ENST00000373202	NM_003901.3	400	Att/Ttt	0	not done		probablydamaging	
HEXA		inserm.fr	GRCh37	15	72638915	72638915	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000268097.5:c.1283G>A	p.Gly428Asp	p.G428D	ENST00000268097	NM_000520.4	428	gGc/gAc	0	not done		probablydamaging	
RHBDL1		inserm.fr	GRCh37	16	726393	726393	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1602T																					ENST00000219551.2:c.292C>T	p.His98Tyr	p.H98Y	ENST00000219551		98	Cac/Tac	0	not done		possiblydamaging	
CDX4		inserm.fr	GRCh37	X	72667172	72667172	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1715T																					ENST00000373514.2:c.83G>T	p.Gly28Val	p.G28V	ENST00000373514	NM_005193.1	28	gGg/gTg	0	not done		possiblydamaging	
MAMDC2		inserm.fr	GRCh37	9	72723361	72723361	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000377182.4:c.383C>T	p.Ala128Val	p.A128V	ENST00000377182	NM_153267.4	128	gCc/gTc	0	not done		probablydamaging	
C1GALT1		inserm.fr	GRCh37	7	7273961	7273961	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1083T																					ENST00000436587.2:c.11A>T	p.Lys4Ile	p.K4I	ENST00000436587	NM_020156.4	4	aAa/aTa	0	validated		probablydamaging	
SLC9A3R1		inserm.fr	GRCh37	17	72745012	72745012	+	synonymous_variant	Silent	SNP	G	T	T			CHC1154T																					ENST00000262613.5:c.27G>T	p.Ala9=	p.A9=	ENST00000262613	NM_004252.4	9	gcG/gcT	0	not done		synonymous	
FKBP6		inserm.fr	GRCh37	7	72754642	72754642	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			BCM791T																					ENST00000252037.4:c.591C>T	p.Ala197=	p.A197=	ENST00000252037	NM_003602.4	197	gcC/gcT	0	validated		synonymous	
MSC		inserm.fr	GRCh37	8	72756175	72756175	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000325509.4:c.239G>A	p.Gly80Asp	p.G80D	ENST00000325509	NM_005098.3	80	gGc/gAc	0	not done		possiblydamaging	
MSC		inserm.fr	GRCh37	8	72756658	72756658	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC1534T																					ENST00000537896.1:c.497+1G>T		p.X166_splice	ENST00000537896				0	validated		damaging	
FKBP6		inserm.fr	GRCh37	7	72756862	72756862	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000252037.4:c.949C>T	p.Pro317Ser	p.P317S	ENST00000252037	NM_003602.4	317	Ccc/Tcc	0	not done		benign	
EXOC6B		inserm.fr	GRCh37	2	72802789	72802789	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000272427.6:c.678G>A	p.Gln226=	p.Q226=	ENST00000272427	NM_015189.1	226	caG/caA	0	not done		synonymous	
CHIC1		inserm.fr	GRCh37	X	72804291	72804291	+	synonymous_variant	Silent	SNP	G	T	T			CHC322T																					ENST00000373502.5:c.390G>T	p.Val130=	p.V130=	ENST00000373502	NM_001039840.2	130	gtG/gtT	0	validated		synonymous	
ZFHX3		inserm.fr	GRCh37	16	72828428	72828428	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC326T																					ENST00000268489.5:c.8153C>A	p.Ala2718Glu	p.A2718E	ENST00000268489	NM_006885.3	2718	gCg/gAg	0	validated		unknown	
GRIN2C		inserm.fr	GRCh37	17	72838734	72838734	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000293190.5:c.3542C>A	p.Ala1181Asp	p.A1181D	ENST00000293190	NM_000835.4	1181	gCc/gAc	0	not done		benign	
GRIN2C		inserm.fr	GRCh37	17	72838738	72838738	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM371T																					ENST00000293190.5:c.3538G>A	p.Gly1180Arg	p.G1180R	ENST00000293190	NM_000835.4	1180	Ggg/Agg	0	validated		benign	
GRIN2C		inserm.fr	GRCh37	17	72846766	72846766	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1700T																					ENST00000293190.5:c.1254C>A	p.Ser418Arg	p.S418R	ENST00000293190	NM_000835.4	418	agC/agA	0	not done		possiblydamaging	
GRIN2C		inserm.fr	GRCh37	17	72848445	72848445	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000293190.5:c.705G>A	p.Val235=	p.V235=	ENST00000293190	NM_000835.4	235	gtG/gtA	0	not done		synonymous	
FZD9		inserm.fr	GRCh37	7	72848910	72848910	+	synonymous_variant	Silent	SNP	C	T	T			CHC1756T																					ENST00000344575.3:c.573C>T	p.Gly191=	p.G191=	ENST00000344575	NM_003508.2	191	ggC/ggT	0	not done		synonymous	
FZD9		inserm.fr	GRCh37	7	72849075	72849075	+	synonymous_variant	Silent	SNP	C	T	T			CHC1568T																					ENST00000344575.3:c.738C>T	p.Thr246=	p.T246=	ENST00000344575	NM_003508.2	246	acC/acT	0	not done		synonymous	
FZD9		inserm.fr	GRCh37	7	72849817	72849817	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1739T																					ENST00000344575.3:c.1480C>T	p.Arg494Trp	p.R494W	ENST00000344575	NM_003508.2	494	Cgg/Tgg	0	not done		probablydamaging	
FDXR		inserm.fr	GRCh37	17	72863054	72863054	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000442102.2:c.251G>A	p.Gly84Glu	p.G84E	ENST00000442102	NM_001258012.1	84	gGg/gAg	0	not done			
BAZ1B		inserm.fr	GRCh37	7	72877252	72877252	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000339594.4:c.3249G>A	p.Arg1083=	p.R1083=	ENST00000339594	NM_032408.3	1083	cgG/cgA	0	not done		damaging	
BAZ1B		inserm.fr	GRCh37	7	72884812	72884812	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC889T																					ENST00000339594.4:c.2595G>A	p.Val865=	p.V865=	ENST00000339594	NM_032408.3	865	gtG/gtA	0	not done		possiblydamaging	
TRHDE		inserm.fr	GRCh37	12	72893343	72893343	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000261180.4:c.1515C>T	p.Ser505=	p.S505=	ENST00000261180	NM_013381.2	505	tcC/tcT	0	not done		synonymous	
OTOP2		inserm.fr	GRCh37	17	72920916	72920916	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000331427.4:c.189C>T	p.Phe63=	p.F63=	ENST00000331427	NM_178160.2	63	ttC/ttT	0	not done		synonymous	
HID1		inserm.fr	GRCh37	17	72951918	72951918	+	synonymous_variant	Silent	SNP	G	T	T			CHC1746T																					ENST00000425042.2:c.1605C>A	p.Val535=	p.V535=	ENST00000425042	NM_030630.2	535	gtC/gtA	0	not done		synonymous	
PLSCR3		inserm.fr	GRCh37	17	7296684	7296684	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000535512.1:c.287-1G>A		p.X96_splice	ENST00000535512				0	not done		damaging	
RIMS1		inserm.fr	GRCh37	6	72967838	72967838	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1061T									Valid												ENST00000521978.1:c.2781G>T	p.Arg927Ser	p.R927S	ENST00000521978	NM_014989.5	927	agG/agT	0	validated		probablydamaging	
GXYLT2		inserm.fr	GRCh37	3	72971471	72971471	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC884T									Valid												ENST00000389617.4:c.585G>T	p.Gln195His	p.Q195H	ENST00000389617	NM_001080393.1	195	caG/caT	0	validated		probablydamaging	
TRPA1		inserm.fr	GRCh37	8	72975092	72975092	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1745T																					ENST00000262209.4:c.749G>A	p.Gly250Asp	p.G250D	ENST00000262209	NM_007332.2	250	gGt/gAt	0	not done		probablydamaging	
TBL2		inserm.fr	GRCh37	7	72987649	72987649	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000305632.5:c.598+1G>A		p.X200_splice	ENST00000305632	NM_012453.2			0	not done		damaging	
TBL2		inserm.fr	GRCh37	7	72988442	72988442	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000305632.5:c.272G>A	p.Gly91Glu	p.G91E	ENST00000305632	NM_012453.2	91	gGg/gAg	0	not done		probablydamaging	
ICT1		inserm.fr	GRCh37	17	73008957	73008957	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC889T																					ENST00000301585.5:c.176G>T	p.Trp59Leu	p.W59L	ENST00000301585	NM_001545.1	59	tGg/tTg	0	not done		probablydamaging	
NPFFR2		inserm.fr	GRCh37	4	73013154	73013154	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000308744.6:c.1194C>T	p.Leu398=	p.L398=	ENST00000308744	NM_004885.2	398	ctC/ctT	0	not done		synonymous	
ARHGEF17		inserm.fr	GRCh37	11	73021457	73021457	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1712T																					ENST00000263674.3:c.1774G>T	p.Val592Leu	p.V592L	ENST00000263674	NM_014786.3	592	Gtg/Ttg	0	not done		benign	
BBS4		inserm.fr	GRCh37	15	73023654	73023654	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2034T																					ENST00000268057.4:c.720G>T	p.Leu240Phe	p.L240F	ENST00000268057	NM_033028.4	240	ttG/ttT	0	not done		probablydamaging	
UNC5B		inserm.fr	GRCh37	10	73053163	73053163	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000335350.6:c.1774C>T	p.Pro592Ser	p.P592S	ENST00000335350	NM_170744.4	592	Ccg/Tcg	0	not done		possiblydamaging	
KCTD2		inserm.fr	GRCh37	17	73055635	73055635	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1708T																					ENST00000322444.6:c.571C>T	p.Gln191Ter	p.Q191*	ENST00000322444	NM_015353.1	191	Cag/Tag	0	not done		damaging	
RIMS1		inserm.fr	GRCh37	6	73100427	73100427	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000521978.1:c.4494C>T	p.Ser1498=	p.S1498=	ENST00000521978	NM_014989.5	1498	agC/agT	0	not done		synonymous	
SSR1		inserm.fr	GRCh37	6	7310179	7310179	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1205T																					ENST00000244763.4:c.163G>A	p.Glu55Lys	p.E55K	ENST00000244763	NM_003144.3	55	Gag/Aag	0	not done		possiblydamaging	
SLC29A3		inserm.fr	GRCh37	10	73121811	73121811	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1041T																					ENST00000373189.5:c.874G>T	p.Asp292Tyr	p.D292Y	ENST00000373189	NM_018344.5	292	Gat/Tat	0	validated		possiblydamaging	
DPF3		inserm.fr	GRCh37	14	73141016	73141016	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000541685.1:c.803G>A	p.Gly268Asp	p.G268D	ENST00000541685	NM_012074.4	268	gGc/gAc	0	not done		possiblydamaging	
DPF3		inserm.fr	GRCh37	14	73141020	73141020	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000541685.1:c.799G>A	p.Gly267Arg	p.G267R	ENST00000541685	NM_012074.4	267	Ggg/Agg	0	not done		probablydamaging	
ADAMTS3		inserm.fr	GRCh37	4	73184340	73184340	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000286657.4:c.1434G>A	p.Met478Ile	p.M478I	ENST00000286657	NM_014243.2	478	atG/atA	0	not done		probablydamaging	
ADAMTS3		inserm.fr	GRCh37	4	73185084	73185084	+	synonymous_variant	Silent	SNP	G	T	T			CHC798T																					ENST00000286657.4:c.1317C>A	p.Ser439=	p.S439=	ENST00000286657	NM_014243.2	439	tcC/tcA	0	validated		synonymous	
ADAMTS3		inserm.fr	GRCh37	4	73186565	73186565	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1731T																					ENST00000286657.4:c.968G>A	p.Gly323Glu	p.G323E	ENST00000286657	NM_014243.2	323	gGa/gAa	0	not done		probablydamaging	
NUP85		inserm.fr	GRCh37	17	73206049	73206049	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1743T																					ENST00000245544.4:c.259G>T	p.Glu87Ter	p.E87*	ENST00000245544	NM_024844.3	87	Gaa/Taa	0	not done		damaging	
NLGN2		inserm.fr	GRCh37	17	7320607	7320607	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC801T																					ENST00000302926.2:c.1997C>T	p.Pro666Leu	p.P666L	ENST00000302926	NM_020795.3	666	cCc/cTc	0	not done		probablydamaging	
TRPM3		inserm.fr	GRCh37	9	73233817	73233817	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000377110.3:c.2288G>A	p.Gly763Asp	p.G763D	ENST00000377110		763	gGc/gAc	0	validated		probablydamaging	
WBSCR27		inserm.fr	GRCh37	7	73254363	73254363	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC451T																					ENST00000297873.4:c.476C>A	p.Pro159Gln	p.P159Q	ENST00000297873	NM_152559.2	159	cCa/cAa	0	validated		probablydamaging	
SLC25A19		inserm.fr	GRCh37	17	73282785	73282785	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000402418.3:c.61G>A	p.Ala21Thr	p.A21T	ENST00000402418		21	Gct/Act	0	not done		probablydamaging	
C17orf74		inserm.fr	GRCh37	17	7330274	7330274	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC793T																					ENST00000333870.3:c.964G>T	p.Glu322Ter	p.E322*	ENST00000333870	NM_175734.4	322	Gag/Tag	0	validated		damaging	
DIS3		inserm.fr	GRCh37	13	73336064	73336064	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2052T																					ENST00000377767.4:c.2339G>A	p.Arg780Lys	p.R780K	ENST00000377767	NM_014953.3	780	aGa/aAa	0	not done		probablydamaging	
DIS3		inserm.fr	GRCh37	13	73346878	73346878	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000377767.4:c.1339G>A	p.Ala447Thr	p.A447T	ENST00000377767	NM_014953.3	447	Gct/Act	0	not done		benign	
DIS3		inserm.fr	GRCh37	13	73346946	73346946	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000377767.4:c.1271G>A	p.Gly424Glu	p.G424E	ENST00000377767	NM_014953.3	424	gGa/gAa	0	not done		probablydamaging	
TMEM102		inserm.fr	GRCh37	17	7340436	7340436	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000323206.1:c.1138G>T	p.Ala380Ser	p.A380S	ENST00000323206	NM_178518.2	380	Gcg/Tcg	0	not done		benign	
PDZRN3		inserm.fr	GRCh37	3	73432518	73432518	+	stop_lost	Nonstop_Mutation	SNP	A	T	T			CHC805T																					ENST00000263666.4:c.3199T>A	p.Ter1067LysextTer32	p.*1067Kext*32	ENST00000263666	NM_015009.1	1067	Taa/Aaa	0	not done			
PDZRN3		inserm.fr	GRCh37	3	73432777	73432777	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000263666.4:c.2940G>A	p.Gln980=	p.Q980=	ENST00000263666	NM_015009.1	980	caG/caA	0	not done		synonymous	
PDZRN3		inserm.fr	GRCh37	3	73434019	73434019	+	synonymous_variant	Silent	SNP	C	T	T			CHC2111T																					ENST00000263666.4:c.1698G>A	p.Glu566=	p.E566=	ENST00000263666	NM_015009.1	566	gaG/gaA	0	not done		synonymous	
SMYD5		inserm.fr	GRCh37	2	73446086	73446086	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC796T																					ENST00000389501.4:c.194A>T	p.Tyr65Phe	p.Y65F	ENST00000389501	NM_006062.2	65	tAt/tTt	0	validated		benign	
SMYD5		inserm.fr	GRCh37	2	73447873	73447873	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1738T																					ENST00000389501.4:c.430C>T	p.Pro144Ser	p.P144S	ENST00000389501	NM_006062.2	144	Ccc/Tcc	0	not done		probablydamaging	
ELN		inserm.fr	GRCh37	7	73459617	73459617	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB307T																					ENST00000252034.7:c.535G>T	p.Ala179Ser	p.A179S	ENST00000252034	NM_000501.3	179	Gct/Tct	0	validated		benign	
CCT7		inserm.fr	GRCh37	2	73471770	73471770	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2110Tbis																					ENST00000258091.5:c.545C>T	p.Ala182Val	p.A182V	ENST00000258091	NM_006429.3	182	gCa/gTa	0	not done		probablydamaging	
ZFYVE1		inserm.fr	GRCh37	14	73491160	73491160	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000556143.1:c.57G>A	p.Gln19=	p.Q19=	ENST00000556143	NM_021260.2	19	caG/caA	0	not done		synonymous	
KIAA0195		inserm.fr	GRCh37	17	73494536	73494536	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1035T																					ENST00000314256.7:c.3650G>T	p.Arg1217Met	p.R1217M	ENST00000314256	NM_014738.4	1217	aGg/aTg	0	validated		benign	
CASKIN2		inserm.fr	GRCh37	17	73497243	73497243	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2103T																					ENST00000321617.3:c.3527G>A	p.Ser1176Asn	p.S1176N	ENST00000321617	NM_020753.4	1176	aGc/aAc	0	not done		benign	
CDH23		inserm.fr	GRCh37	10	73501615	73501615	+	synonymous_variant	Silent	SNP	C	T	T			CHC889T																					ENST00000224721.6:c.4797C>T	p.Arg1599=	p.R1599=	ENST00000224721	NM_022124.5	1599	cgC/cgT	0	not done		synonymous	
CHRNB1		inserm.fr	GRCh37	17	7350202	7350202	+	synonymous_variant	Silent	SNP	C	T	T			CHC1053T																					ENST00000306071.2:c.294C>T	p.Ile98=	p.I98=	ENST00000306071	NM_000747.2	98	atC/atT	0	validated		synonymous	
CHRNB1		inserm.fr	GRCh37	17	7350248	7350248	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC794T																					ENST00000306071.2:c.340G>T	p.Val114Leu	p.V114L	ENST00000306071	NM_000747.2	114	Gtg/Ttg	0	validated		probablydamaging	
EGR4		inserm.fr	GRCh37	2	73519255	73519255	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000545030.1:c.1100G>A	p.Gly367Glu	p.G367E	ENST00000545030	NM_001965.3	367	gGg/gAg	0	not done		benign	
EGR4		inserm.fr	GRCh37	2	73519810	73519810	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000545030.1:c.545G>A	p.Gly182Asp	p.G182D	ENST00000545030	NM_001965.3	182	gGc/gAc	0	not done		possiblydamaging	
CDH23		inserm.fr	GRCh37	10	73537961	73537961	+	upstream_gene_variant	5'Flank	SNP	G	T	T			CHC1211T																								ENST00000394957	NM_022153.1			0	not done		benign	
LLGL2		inserm.fr	GRCh37	17	73569184	73569184	+	synonymous_variant	Silent	SNP	C	T	T			BCM325T																					ENST00000392550.3:c.2550C>T	p.His850=	p.H850=	ENST00000392550	NM_001031803.1	850	caC/caT	0	validated		synonymous	
HCN4		inserm.fr	GRCh37	15	73616517	73616517	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1604T									Valid												ENST00000261917.3:c.2056G>A	p.Val686Met	p.V686M	ENST00000261917	NM_005477.2	686	Gtg/Atg	0	validated		probablydamaging	
SAP30BP		inserm.fr	GRCh37	17	73664681	73664681	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC923T																					ENST00000584667.1:c.192A>T	p.Glu64Asp	p.E64D	ENST00000584667	NM_013260.6	64	gaA/gaT	0	not done		benign	
RFC2		inserm.fr	GRCh37	7	73666813	73666813	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000055077.3:c.129G>A	p.Arg43=	p.R43=	ENST00000055077	NM_001278792.1	43	agG/agA	0	not done		synonymous	
RFC2		inserm.fr	GRCh37	7	73668635	73668635	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000055077.3:c.79G>A	p.Ala27Thr	p.A27T	ENST00000055077	NM_001278792.1	27	Gcc/Acc	0	not done		benign	
PDZRN3		inserm.fr	GRCh37	3	73673300	73673300	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2362T																					ENST00000263666.4:c.677G>A	p.Arg226His	p.R226H	ENST00000263666	NM_015009.1	226	cGc/cAc	0	validated		probablydamaging	
ALMS1		inserm.fr	GRCh37	2	73676207	73676207	+	synonymous_variant	Silent	SNP	A	T	T			BCM325T																					ENST00000264448.6:c.2550A>T	p.Pro850=	p.P850=	ENST00000264448	NM_015120.4	850	ccA/ccT	0	validated		synonymous	
ALMS1		inserm.fr	GRCh37	2	73678741	73678741	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000264448.6:c.5084G>T	p.Gly1695Val	p.G1695V	ENST00000264448	NM_015120.4	1695	gGa/gTa	0	not done		possiblydamaging	
PAPLN		inserm.fr	GRCh37	14	73725747	73725747	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC326T									Valid												ENST00000340738.5:c.1607C>T	p.Pro536Leu	p.P536L	ENST00000340738	NM_173462.3	536	cCt/cTt	0	validated		probablydamaging	
PAPLN		inserm.fr	GRCh37	14	73726179	73726179	+	synonymous_variant	Silent	SNP	C	T	T			CHC1545T																					ENST00000340738.5:c.1830C>T	p.Cys610=	p.C610=	ENST00000340738	NM_173462.3	610	tgC/tgT	0	not done		synonymous	
PAPLN		inserm.fr	GRCh37	14	73729508	73729508	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC302T																					ENST00000340738.5:c.2615C>T	p.Ala872Val	p.A872V	ENST00000340738	NM_173462.3	872	gCg/gTg	0	validated		benign	
ITGB4		inserm.fr	GRCh37	17	73733517	73733517	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM275T									Valid												ENST00000200181.3:c.2105A>T	p.Lys702Met	p.K702M	ENST00000200181	NM_000213.3	702	aAg/aTg	0	validated		probablydamaging	
ITGB4		inserm.fr	GRCh37	17	73748420	73748420	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000200181.3:c.3959C>T	p.Pro1320Leu	p.P1320L	ENST00000200181	NM_000213.3	1320	cCc/cTc	0	not done		probablydamaging	
GALK1		inserm.fr	GRCh37	17	73758877	73758877	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000588479.1:c.701G>A	p.Ser234Asn	p.S234N	ENST00000588479		234	aGc/aAc	0	not done		benign	
CHST3		inserm.fr	GRCh37	10	73767065	73767065	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000373115.4:c.276C>T	p.Ser92=	p.S92=	ENST00000373115	NM_004273.4	92	agC/agT	0	not done		synonymous	
CHST3		inserm.fr	GRCh37	10	73767204	73767204	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000373115.4:c.415G>T	p.Ala139Ser	p.A139S	ENST00000373115	NM_004273.4	139	Gcc/Tcc	0	not done		probablydamaging	
CHST3		inserm.fr	GRCh37	10	73767703	73767703	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000373115.4:c.914C>T	p.Ala305Val	p.A305V	ENST00000373115	NM_004273.4	305	gCc/gTc	0	not done		probablydamaging	
ALMS1		inserm.fr	GRCh37	2	73777415	73777415	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC798T									Valid												ENST00000264448.6:c.9926C>T	p.Pro3309Leu	p.P3309L	ENST00000264448	NM_015120.4	3309	cCa/cTa	0	validated		probablydamaging	
UNK		inserm.fr	GRCh37	17	73808213	73808213	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1712T																					ENST00000589666.1:c.335C>T	p.Thr112Ile	p.T112I	ENST00000589666	NM_001080419.2	112	aCc/aTc	0	not done		probablydamaging	
KCNQ5		inserm.fr	GRCh37	6	73843320	73843320	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000342056.2:c.1481C>T	p.Pro494Leu	p.P494L	ENST00000342056	NM_001160132.1	494	cCc/cTc	0	not done		benign	
KCNB2		inserm.fr	GRCh37	8	73849946	73849946	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000523207.1:c.2356C>T	p.Pro786Ser	p.P786S	ENST00000523207	NM_004770.2	786	Ccc/Tcc	0	not done		benign	
SLC35G6		inserm.fr	GRCh37	17	7385571	7385571	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000412468.2:c.268C>T	p.Arg90Cys	p.R90C	ENST00000412468	NM_001102614.1	90	Cgt/Tgt	0	not done		benign	
TRIM65		inserm.fr	GRCh37	17	73886886	73886886	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000269383.3:c.1528G>A	p.Gly510Arg	p.G510R	ENST00000269383	NM_173547.3	510	Ggg/Agg	0	not done		benign	
NPTN		inserm.fr	GRCh37	15	73889488	73889488	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1715T																					ENST00000345330.4:c.314G>A	p.Arg105Gln	p.R105Q	ENST00000345330	NM_012428.3	105	cGg/cAg	0	not done		possiblydamaging	
MRPL38		inserm.fr	GRCh37	17	73894964	73894964	+	synonymous_variant	Silent	SNP	C	T	T			CHC1744T																					ENST00000309352.3:c.1110G>A	p.Arg370=	p.R370=	ENST00000309352	NM_032478.3	370	agG/agA	0	not done		synonymous	
MRPL38		inserm.fr	GRCh37	17	73900769	73900769	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000309352.3:c.99G>A	p.Gly33=	p.G33=	ENST00000309352	NM_032478.3	33	ggG/ggA	0	not done		synonymous	
FBF1		inserm.fr	GRCh37	17	73916174	73916174	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000319129.5:c.1800G>A	p.Glu600=	p.E600=	ENST00000319129	NM_001080542.1	600	gaG/gaA	0	not done		synonymous	
GTF2IRD1		inserm.fr	GRCh37	7	73929708	73929708	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1061T																					ENST00000455841.2:c.299A>T	p.Gln100Leu	p.Q100L	ENST00000455841	NM_001199207.1	100	cAg/cTg	0	validated			
KHDC1		inserm.fr	GRCh37	6	73951800	73951800	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000370384.3:c.492G>A	p.Gln164=	p.Q164=	ENST00000370384	NM_001251874.1	164	caG/caA	0	not done		synonymous	
GTF2IRD1		inserm.fr	GRCh37	7	73961542	73961542	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000455841.2:c.1938G>T	p.Arg646Ser	p.R646S	ENST00000455841	NM_001199207.1	646	agG/agT	0	not done		probablydamaging	
DUSP11		inserm.fr	GRCh37	2	73994015	73994015	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC917T																					ENST00000272444.3:c.698G>A	p.Arg233Gln	p.R233Q	ENST00000272444	NM_003584.2	233	cGg/cAg	0	validated		probablydamaging	
P4HA3		inserm.fr	GRCh37	11	74013476	74013476	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC314T									Valid												ENST00000331597.4:c.505G>A	p.Asp169Asn	p.D169N	ENST00000331597	NM_182904.3	169	Gac/Aac	0	validated		probablydamaging	
EVPL		inserm.fr	GRCh37	17	74018559	74018559	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC884T									Valid												ENST00000301607.3:c.541G>A	p.Glu181Lys	p.E181K	ENST00000301607	NM_001988.2	181	Gag/Aag	0	validated		probablydamaging	
C15orf59		inserm.fr	GRCh37	15	74032737	74032737	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000569673.1:c.403G>A	p.Ala135Thr	p.A135T	ENST00000569673		135	Gct/Act	0	not done		benign	
C2orf78		inserm.fr	GRCh37	2	74040908	74040908	+	synonymous_variant	Silent	SNP	C	T	T			BCB157T																					ENST00000409561.1:c.402C>T	p.Ser134=	p.S134=	ENST00000409561	NM_001080474.1	134	agC/agT	0	validated		synonymous	
C2orf78		inserm.fr	GRCh37	2	74042547	74042547	+	synonymous_variant	Silent	SNP	G	T	T			CHC1061T																					ENST00000409561.1:c.1197G>T	p.Leu399=	p.L399=	ENST00000409561	NM_001080474.1	399	ctG/ctT	0	validated		synonymous	
C2orf78		inserm.fr	GRCh37	2	74042715	74042715	+	synonymous_variant	Silent	SNP	G	T	T			CHC1209T																					ENST00000409561.1:c.1365G>T	p.Pro455=	p.P455=	ENST00000409561	NM_001080474.1	455	ccG/ccT	0	not done		synonymous	
ANKRD17		inserm.fr	GRCh37	4	74043239	74043239	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1083T																					ENST00000358602.4:c.405C>A	p.Phe135Leu	p.F135L	ENST00000358602	NM_032217.3	135	ttC/ttA	0	validated		probablydamaging	
PGM2L1		inserm.fr	GRCh37	11	74053691	74053691	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000298198.4:c.1447G>A	p.Gly483Ser	p.G483S	ENST00000298198	NM_173582.3	483	Ggt/Agt	0	not done		probablydamaging	
PGM2L1		inserm.fr	GRCh37	11	74057874	74057874	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000298198.4:c.940G>A	p.Glu314Lys	p.E314K	ENST00000298198	NM_173582.3	314	Gaa/Aaa	0	not done		benign	
OOEP		inserm.fr	GRCh37	6	74079005	74079005	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000370359.5:c.294G>A	p.Gly98=	p.G98=	ENST00000370359	NM_001080507.2	98	ggG/ggA	0	not done		synonymous	
EXOC7		inserm.fr	GRCh37	17	74083760	74083760	+	synonymous_variant	Silent	SNP	C	T	T			CHC313T																					ENST00000335146.7:c.1557G>A	p.Thr519=	p.T519=	ENST00000335146		519	acG/acA	0	validated		synonymous	
STAMBP		inserm.fr	GRCh37	2	74087240	74087240	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC798T									Valid												ENST00000394070.2:c.1180G>T	p.Gly394Ter	p.G394*	ENST00000394070	NM_213622.2	394	Gga/Tga	0	validated		damaging	
STAMBP		inserm.fr	GRCh37	2	74087241	74087241	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T									Valid												ENST00000394070.2:c.1181G>T	p.Gly394Val	p.G394V	ENST00000394070	NM_213622.2	394	gGa/gTa	0	validated		probablydamaging	
EXOC7		inserm.fr	GRCh37	17	74087260	74087260	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000335146.7:c.865G>A	p.Gly289Arg	p.G289R	ENST00000335146		289	Ggg/Agg	0	not done		possiblydamaging	
DDX43		inserm.fr	GRCh37	6	74104663	74104663	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM339T																					ENST00000370336.4:c.35C>T	p.Thr12Met	p.T12M	ENST00000370336	NM_018665.2	12	aCg/aTg	0	validated		possiblydamaging	
FAM169A		inserm.fr	GRCh37	5	74137487	74137487	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000389156.4:c.15G>A	p.Val5=	p.V5=	ENST00000389156	NM_015566.2	5	gtG/gtA	0	not done		synonymous	
MB21D1		inserm.fr	GRCh37	6	74138443	74138443	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000370315.3:c.1206G>A	p.Glu402=	p.E402=	ENST00000370315	NM_138441.2	402	gaG/gaA	0	not done		synonymous	
POLR2A		inserm.fr	GRCh37	17	7416872	7416872	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000322644.6:c.5289C>T	p.Ser1763=	p.S1763=	ENST00000322644	NM_000937.4	1763	agC/agT	0	not done		synonymous	
PNMA1		inserm.fr	GRCh37	14	74179357	74179357	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM695T																					ENST00000316836.3:c.986G>A	p.Arg329His	p.R329H	ENST00000316836	NM_006029.4	329	cGt/cAt	0	validated		probablydamaging	
PNMA1		inserm.fr	GRCh37	14	74180160	74180160	+	synonymous_variant	Silent	SNP	C	T	T			BCM423T																					ENST00000316836.3:c.183G>A	p.Ala61=	p.A61=	ENST00000316836	NM_006029.4	61	gcG/gcA	0	validated		synonymous	
ELMSAN1		inserm.fr	GRCh37	14	74186159	74186159	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC798T																					ENST00000286523.5:c.2983G>A	p.Gly995Arg	p.G995R	ENST00000286523	NM_194278.3	995	Ggg/Agg	0	validated		probablydamaging	
ELMSAN1		inserm.fr	GRCh37	14	74203794	74203794	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000286523.5:c.1656G>A	p.Lys552=	p.K552=	ENST00000286523	NM_194278.3	552	aaG/aaA	0	not done		synonymous	
LOXL1		inserm.fr	GRCh37	15	74219217	74219217	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000261921.7:c.93G>T	p.Gly31=	p.G31=	ENST00000261921	NM_005576.2	31	ggG/ggT	0	not done		synonymous	
UBALD2		inserm.fr	GRCh37	17	74261598	74261598	+	synonymous_variant	Silent	SNP	C	T	T			CHC258T																					ENST00000327490.6:c.12C>T	p.Asn4=	p.N4=	ENST00000327490	NM_182565.3	4	aaC/aaT	0	validated		synonymous	
UBALD2		inserm.fr	GRCh37	17	74266326	74266326	+	synonymous_variant	Silent	SNP	C	T	T			CHC1597T																					ENST00000327490.6:c.235C>T	p.Leu79=	p.L79=	ENST00000327490	NM_182565.3	79	Ctg/Ttg	0	not done		synonymous	
ALB		inserm.fr	GRCh37	4	74272393	74272393	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1736T																					ENST00000295897.4:c.185A>T	p.Asp62Val	p.D62V	ENST00000295897	NM_000477.5	62	gAt/gTt	0	not done		benign	
ALB		inserm.fr	GRCh37	4	74275160	74275160	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM759T																					ENST00000295897.4:c.571G>T	p.Glu191Ter	p.E191*	ENST00000295897	NM_000477.5	191	Gaa/Taa	0	validated		damaging	
ALB		inserm.fr	GRCh37	4	74276087	74276087	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC798T									Valid												ENST00000295897.4:c.674C>T	p.Ala225Val	p.A225V	ENST00000295897	NM_000477.5	225	gCc/gTc	0	validated		possiblydamaging	
ALB		inserm.fr	GRCh37	4	74286009	74286009	+	synonymous_variant	Silent	SNP	C	T	T			BCM337T																					ENST00000295897.4:c.1824C>T	p.Gly608=	p.G608=	ENST00000295897	NM_000477.5	608	ggC/ggT	0	validated		synonymous	
QRICH2		inserm.fr	GRCh37	17	74289897	74289897	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000262765.5:c.413G>A	p.Ser138Asn	p.S138N	ENST00000262765	NM_032134.1	138	aGc/aAc	0	not done		probablydamaging	
TMEM2		inserm.fr	GRCh37	9	74319643	74319643	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC923T																					ENST00000377044.4:c.3062T>A	p.Val1021Glu	p.V1021E	ENST00000377044	NM_013390.2	1021	gTg/gAg	0	not done		benign	
TMEM2		inserm.fr	GRCh37	9	74324322	74324322	+	synonymous_variant	Silent	SNP	C	T	T			CHC1065T																					ENST00000377044.4:c.2838G>A	p.Lys946=	p.K946=	ENST00000377044	NM_013390.2	946	aaG/aaA	0	validated		synonymous	
PRPSAP1		inserm.fr	GRCh37	17	74324893	74324893	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1207T																					ENST00000446526.3:c.686G>A	p.Gly229Glu	p.G229E	ENST00000446526	NM_002766.2	229	gGg/gAg	0	not done		probablydamaging	
GCNT4		inserm.fr	GRCh37	5	74325361	74325361	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000322348.4:c.502G>A	p.Ala168Thr	p.A168T	ENST00000322348	NM_016591.2	168	Gca/Aca	0	not done		benign	
PML		inserm.fr	GRCh37	15	74335390	74335390	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2048T																					ENST00000268058.3:c.1771A>T	p.Ser591Cys	p.S591C	ENST00000268058	NM_033238.2	591	Agc/Tgc	0	not done		probablydamaging	
TMEM2		inserm.fr	GRCh37	9	74340585	74340585	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000377044.4:c.2090G>A	p.Gly697Glu	p.G697E	ENST00000377044	NM_013390.2	697	gGg/gAg	0	not done		probablydamaging	
PTGR2		inserm.fr	GRCh37	14	74345858	74345858	+	synonymous_variant	Silent	SNP	C	T	T			CHC902T																					ENST00000555661.1:c.579C>T	p.Cys193=	p.C193=	ENST00000555661		193	tgC/tgT	0	not done		synonymous	
SLC17A5		inserm.fr	GRCh37	6	74348207	74348207	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000355773.5:c.541G>A	p.Ala181Thr	p.A181T	ENST00000355773	NM_012434.4	181	Gcc/Acc	0	not done		probablydamaging	
AFM		inserm.fr	GRCh37	4	74351628	74351628	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1763T																					ENST00000226355.3:c.320A>T	p.Lys107Met	p.K107M	ENST00000226355	NM_001133.2	107	aAg/aTg	0	not done		probablydamaging	
PSAPL1		inserm.fr	GRCh37	4	7436025	7436025	+	synonymous_variant	Silent	SNP	G	T	T			CHC097T																					ENST00000319098.4:c.582C>A	p.Leu194=	p.L194=	ENST00000319098	NM_001085382.1	194	ctC/ctA	0	not done		synonymous	
TMEM2		inserm.fr	GRCh37	9	74365109	74365109	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000377044.4:c.181G>A	p.Ala61Thr	p.A61T	ENST00000377044	NM_013390.2	61	Gca/Aca	0	not done		benign	
GOLGA6A		inserm.fr	GRCh37	15	74367071	74367071	+	synonymous_variant	Silent	SNP	C	T	T			CHC429T																					ENST00000290438.3:c.1119G>A	p.Thr373=	p.T373=	ENST00000290438	NM_001038640.2	373	acG/acA	0	validated		synonymous	
ZNF410		inserm.fr	GRCh37	14	74371663	74371663	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1756T																					ENST00000442160.3:c.841C>T	p.Gln281Ter	p.Q281*	ENST00000442160	NM_001242924.1	281	Cag/Tag	0	not done		damaging	
UBE2O		inserm.fr	GRCh37	17	74387348	74387348	+	synonymous_variant	Silent	SNP	A	T	T			CHC1545T																					ENST00000319380.7:c.3555T>A	p.Pro1185=	p.P1185=	ENST00000319380	NM_022066.3	1185	ccT/ccA	0	not done		synonymous	
CHRDL2		inserm.fr	GRCh37	11	74414480	74414480	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC361TA																					ENST00000263671.5:c.816C>A	p.Phe272Leu	p.F272L	ENST00000263671	NM_015424.4	272	ttC/ttA	0	validated		benign	
ANKRD31		inserm.fr	GRCh37	5	74450026	74450026	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC2321T									Valid												ENST00000506364.2:c.1852G>A	p.Ala618Thr	p.A618T	ENST00000506364		618	Gct/Act	0	validated		damaging	
AANAT		inserm.fr	GRCh37	17	74465758	74465758	+	synonymous_variant	Silent	SNP	G	T	T			CHC1065T																					ENST00000250615.3:c.465G>T	p.Thr155=	p.T155=	ENST00000250615	NM_001166579.1	155	acG/acT	0	validated		synonymous	
AANAT		inserm.fr	GRCh37	17	74466048	74466048	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1742T																					ENST00000250615.3:c.755G>T	p.Cys252Phe	p.C252F	ENST00000250615	NM_001166579.1	252	tGc/tTc	0	validated		probablydamaging	
RHBDF2		inserm.fr	GRCh37	17	74473810	74473810	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC889T																					ENST00000313080.4:c.817G>A	p.Ala273Thr	p.A273T	ENST00000313080	NM_024599.5	273	Gcc/Acc	0	not done		benign	
UPRT		inserm.fr	GRCh37	X	74494111	74494111	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC303T																					ENST00000373383.4:c.22C>T	p.Pro8Ser	p.P8S	ENST00000373383	NM_145052.3	8	Ccg/Tcg	0	validated		benign	
CYGB		inserm.fr	GRCh37	17	74533559	74533559	+	synonymous_variant	Silent	SNP	C	T	T			CHC2098T																					ENST00000293230.5:c.66G>A	p.Ala22=	p.A22=	ENST00000293230	NM_134268.4	22	gcG/gcA	0	not done		synonymous	
STAU2		inserm.fr	GRCh37	8	74585368	74585368	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC909T																					ENST00000524300.1:c.384C>A	p.Tyr128Ter	p.Y128*	ENST00000524300	NM_001164381.1	128	taC/taA	0	not done		damaging	
ZNF236		inserm.fr	GRCh37	18	74593348	74593348	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1597T																					ENST00000253159.8:c.1291A>T	p.Ser431Cys	p.S431C	ENST00000253159	NM_007345.3	431	Agc/Tgc	0	not done		benign	
DCTN1		inserm.fr	GRCh37	2	74597113	74597113	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000361874.3:c.1371G>A	p.Leu457=	p.L457=	ENST00000361874	NM_004082.4	457	ttG/ttA	0	not done		synonymous	
DCTN1		inserm.fr	GRCh37	2	74598822	74598822	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361874.3:c.487G>A	p.Ala163Thr	p.A163T	ENST00000361874	NM_004082.4	163	Gcc/Acc	0	not done		benign	
ZNF236		inserm.fr	GRCh37	18	74617183	74617183	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2029T																					ENST00000253159.8:c.2103A>T	p.Lys701Asn	p.K701N	ENST00000253159	NM_007345.3	701	aaA/aaT	0	not done		probablydamaging	
ACSM4		inserm.fr	GRCh37	12	7463149	7463149	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1545T																					ENST00000399422.4:c.427C>T	p.Pro143Ser	p.P143S	ENST00000399422	NM_001080454.1	143	Ccg/Tcg	0	not done		probablydamaging	
HMGCR		inserm.fr	GRCh37	5	74645869	74645869	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC432T																					ENST00000287936.4:c.559G>T	p.Val187Leu	p.V187L	ENST00000287936	NM_000859.2	187	Gta/Tta	0	not done		probablydamaging	
INO80B		inserm.fr	GRCh37	2	74684802	74684802	+	synonymous_variant	Silent	SNP	G	T	T			CHC1211T																					ENST00000233331.7:c.882G>T	p.Thr294=	p.T294=	ENST00000233331	NM_031288.3	294	acG/acT	0	not done		synonymous	
MOGS		inserm.fr	GRCh37	2	74691758	74691758	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1594T																					ENST00000233616.4:c.444G>A	p.Trp148Ter	p.W148*	ENST00000233616	NM_006302.2	148	tgG/tgA	0	not done		damaging	
ZDHHC15		inserm.fr	GRCh37	X	74698795	74698795	+	synonymous_variant	Silent	SNP	G	T	T			CHC320T																					ENST00000373367.3:c.189C>A	p.Ala63=	p.A63=	ENST00000373367	NM_144969.2	63	gcC/gcA	0	validated		synonymous	
ZDHHC15		inserm.fr	GRCh37	X	74698796	74698796	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC320T									Valid												ENST00000373367.3:c.188C>A	p.Ala63Asp	p.A63D	ENST00000373367	NM_144969.2	63	gCc/gAc	0	validated		possiblydamaging	
SEMA7A		inserm.fr	GRCh37	15	74704350	74704350	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261918.4:c.1298G>A	p.Arg433Lys	p.R433K	ENST00000261918	NM_003612.3	433	aGg/aAg	0	not done		benign	
SEMA7A		inserm.fr	GRCh37	15	74707015	74707015	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000261918.4:c.1167G>A	p.Gln389=	p.Q389=	ENST00000261918	NM_003612.3	389	caG/caA	0	not done		synonymous	
PF4V1		inserm.fr	GRCh37	4	74719163	74719163	+	synonymous_variant	Silent	SNP	G	T	T			CHC197T																					ENST00000226524.3:c.84G>T	p.Val28=	p.V28=	ENST00000226524	NM_002620.2	28	gtG/gtT	0	validated		synonymous	
PF4V1		inserm.fr	GRCh37	4	74719596	74719596	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000226524.3:c.197C>T	p.Ala66Val	p.A66V	ENST00000226524	NM_002620.2	66	gCc/gTc	0	not done		probablydamaging	
PF4V1		inserm.fr	GRCh37	4	74719597	74719597	+	synonymous_variant	Silent	SNP	C	T	T			CHC307T																					ENST00000226524.3:c.198C>T	p.Ala66=	p.A66=	ENST00000226524	NM_002620.2	66	gcC/gcT	0	validated		synonymous	
JMJD6		inserm.fr	GRCh37	17	74720041	74720041	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000445478.2:c.618G>A	p.Trp206Ter	p.W206*	ENST00000445478	NM_001081461.1	206	tgG/tgA	0	not done		damaging	
METTL23		inserm.fr	GRCh37	17	74729209	74729209	+	synonymous_variant	Silent	SNP	A	T	T			CHC1736T																					ENST00000341249.6:c.234A>T	p.Gly78=	p.G78=	ENST00000341249	NM_001206984.1	78	ggA/ggT	0	not done		synonymous	
TNNI3K		inserm.fr	GRCh37	1	74737318	74737318	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC736T									Valid												ENST00000370891.2:c.673G>T	p.Gly225Ter	p.G225*	ENST00000370891	NM_001112808.2	225	Gga/Tga	0	validated		damaging	
MFSD11		inserm.fr	GRCh37	17	74738062	74738062	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000588460.1:c.272C>T	p.Ala91Val	p.A91V	ENST00000588460	NM_001242534.1	91	gCc/gTc	0	not done		benign	
UBL7		inserm.fr	GRCh37	15	74751185	74751185	+	synonymous_variant	Silent	SNP	C	T	T			CHC1741T																					ENST00000567435.1:c.24G>A	p.Leu8=	p.L8=	ENST00000567435	NM_001286741.1	8	ctG/ctA	0	not done		synonymous	
FA2H		inserm.fr	GRCh37	16	74753007	74753007	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000219368.3:c.665G>A	p.Gly222Glu	p.G222E	ENST00000219368	NM_024306.4	222	gGg/gAg	0	not done		probablydamaging	
AUP1		inserm.fr	GRCh37	2	74754930	74754930	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000377526.3:c.774G>A	p.Arg258=	p.R258=	ENST00000377526	NM_181575.3	258	cgG/cgA	0	not done		synonymous	
EIF4A1		inserm.fr	GRCh37	17	7478550	7478550	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1205T																					ENST00000293831.8:c.319G>T	p.Ala107Ser	p.A107S	ENST00000293831	NM_001416.3	107	Gca/Tca	0	validated		benign	
TNNI3K		inserm.fr	GRCh37	1	74801722	74801722	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1154T																					ENST00000370891.2:c.874G>T	p.Ala292Ser	p.A292S	ENST00000370891	NM_001112808.2	292	Gct/Tct	0	not done		possiblydamaging	
PF4		inserm.fr	GRCh37	4	74847605	74847605	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000296029.3:c.66G>A	p.Leu22=	p.L22=	ENST00000296029	NM_002619.3	22	ctG/ctA	0	not done		synonymous	
SLCO2B1		inserm.fr	GRCh37	11	74875043	74875043	+	synonymous_variant	Silent	SNP	G	T	T			CHC1065T																					ENST00000289575.5:c.183G>T	p.Ala61=	p.A61=	ENST00000289575	NM_007256.4	61	gcG/gcT	0	validated		synonymous	
SYNDIG1L		inserm.fr	GRCh37	14	74876307	74876307	+	synonymous_variant	Silent	SNP	C	T	T			CHC1052T																					ENST00000331628.3:c.141G>A	p.Gly47=	p.G47=	ENST00000331628	NM_001105579.1	47	ggG/ggA	0	validated		synonymous	
MGAT5B		inserm.fr	GRCh37	17	74922709	74922709	+	synonymous_variant	Silent	SNP	G	T	T			BCM735T																					ENST00000428789.2:c.1221G>T	p.Gly407=	p.G407=	ENST00000428789	NM_198955.1	407	ggG/ggT	0	validated		synonymous	
MGAT5B		inserm.fr	GRCh37	17	74922741	74922741	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000428789.2:c.1253C>T	p.Ala418Val	p.A418V	ENST00000428789	NM_198955.1	418	gCc/gTc	0	not done		possiblydamaging	
MGAT5B		inserm.fr	GRCh37	17	74942456	74942456	+	splice_acceptor_variant	Splice_Site	SNP	A	T	T			CHC437T									Valid												ENST00000428789.2:c.1876-2A>T		p.X626_splice	ENST00000428789	NM_198955.1			0	validated		possiblydamaging	
COL28A1		inserm.fr	GRCh37	7	7495680	7495680	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000399429.3:c.1366G>A	p.Glu456Lys	p.E456K	ENST00000399429	NM_001037763.2	456	Gaa/Aaa	0	not done		possiblydamaging	
ARRB1		inserm.fr	GRCh37	11	74989691	74989691	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000420843.2:c.580G>A	p.Asp194Asn	p.D194N	ENST00000420843	NM_004041.4	194	Gac/Aac	0	not done		benign	
MAGEE2		inserm.fr	GRCh37	X	75003335	75003335	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1715T																					ENST00000373359.2:c.1552T>A	p.Phe518Ile	p.F518I	ENST00000373359	NM_138703.4	518	Ttt/Att	0	not done		possiblydamaging	
C1orf173		inserm.fr	GRCh37	1	75038477	75038477	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000326665.5:c.2917G>A	p.Ala973Thr	p.A973T	ENST00000326665	NM_001002912.4	973	Gca/Aca	0	not done		possiblydamaging	
C1orf173		inserm.fr	GRCh37	1	75038993	75038993	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000326665.5:c.2401G>A	p.Ala801Thr	p.A801T	ENST00000326665	NM_001002912.4	801	Gca/Aca	0	not done		possiblydamaging	
POM121C		inserm.fr	GRCh37	7	75051419	75051419	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1744T																					ENST00000453279.2:c.2116G>A	p.Ala706Thr	p.A706T	ENST00000453279	NM_001099415.2	706	Gca/Aca	0	validated		benign	
FXR2		inserm.fr	GRCh37	17	7507363	7507363	+	synonymous_variant	Silent	SNP	G	T	T			CHC798T																					ENST00000250113.7:c.264C>A	p.Gly88=	p.G88=	ENST00000250113	NM_004860.3	88	ggC/ggA	0	validated		synonymous	
LTBP2		inserm.fr	GRCh37	14	75078266	75078266	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261978.4:c.382G>A	p.Gly128Ser	p.G128S	ENST00000261978	NM_000428.2	128	Ggc/Agc	0	not done		benign	
CSK		inserm.fr	GRCh37	15	75090957	75090957	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC1717T																					ENST00000220003.9:c.17C>T	p.Ala6Val	p.A6V	ENST00000220003	NM_004383.2	6	gCc/gTc	0	not done		possiblydamaging	
ARHGEF18		inserm.fr	GRCh37	19	7509217	7509217	+	synonymous_variant	Silent	SNP	C	T	T			BCM339T																					ENST00000359920.6:c.924C>T	p.Asp308=	p.D308=	ENST00000359920	NM_001130955.1	308	gaC/gaT	0	validated		synonymous	
HK2		inserm.fr	GRCh37	2	75105941	75105941	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000290573.2:c.1158C>T	p.Cys386=	p.C386=	ENST00000290573	NM_000189.4	386	tgC/tgT	0	validated		synonymous	
LMAN1L		inserm.fr	GRCh37	15	75112407	75112407	+	synonymous_variant	Silent	SNP	C	T	T			CHC218T																					ENST00000309664.5:c.741C>T	p.Phe247=	p.F247=	ENST00000309664	NM_021819.2	247	ttC/ttT	0	not done		synonymous	
HK2		inserm.fr	GRCh37	2	75112686	75112686	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000290573.2:c.1905C>T	p.Thr635=	p.T635=	ENST00000290573	NM_000189.4	635	acC/acT	0	not done		synonymous	
HK2		inserm.fr	GRCh37	2	75115150	75115150	+	synonymous_variant	Silent	SNP	C	T	T			CHC1595T																					ENST00000290573.2:c.2340C>T	p.Gly780=	p.G780=	ENST00000290573	NM_000189.4	780	ggC/ggT	0	validated		synonymous	
KLHL35		inserm.fr	GRCh37	11	75133698	75133698	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC314T									Valid												ENST00000539798.1:c.1678G>A	p.Glu560Lys	p.E560K	ENST00000539798	NM_001039548.2	560	Gag/Aag	0	validated		probablydamaging	
GDPD5		inserm.fr	GRCh37	11	75173886	75173886	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1205T																					ENST00000336898.3:c.166C>A	p.Leu56Ile	p.L56I	ENST00000336898	NM_030792.6	56	Ctc/Atc	0	validated		probablydamaging	
EPGN		inserm.fr	GRCh37	4	75180322	75180322	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCB307T																					ENST00000413830.1:c.433A>T	p.Asn145Tyr	p.N145Y	ENST00000413830	NM_001270989.1	145	Aat/Tat	0	validated		benign	
CRYZ		inserm.fr	GRCh37	1	75190500	75190500	+	synonymous_variant	Silent	SNP	C	T	T			CHC1597T																					ENST00000417775.1:c.6G>A	p.Ala2=	p.A2=	ENST00000417775	NM_001130042.1	2	gcG/gcA	0	not done		synonymous	
ZFP1		inserm.fr	GRCh37	16	75200685	75200685	+	synonymous_variant	Silent	SNP	G	T	T			CHC2351T																					ENST00000393430.2:c.33G>T	p.Thr11=	p.T11=	ENST00000393430		11	acG/acT	0	not done		synonymous	
HIP1		inserm.fr	GRCh37	7	75221752	75221752	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1556T																					ENST00000336926.6:c.265G>A	p.Ala89Thr	p.A89T	ENST00000336926	NM_005338.6	89	Gca/Aca	0	not done		probablydamaging	
PPP3CB		inserm.fr	GRCh37	10	75230649	75230649	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000394829.2:c.883G>A	p.Ala295Thr	p.A295T	ENST00000394829	NM_001142353.1	295	Gca/Aca	0	not done		possiblydamaging	
CTRB1		inserm.fr	GRCh37	16	75258686	75258686	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000361017.4:c.714C>T	p.Cys238=	p.C238=	ENST00000361017	NM_001906.4	238	tgC/tgT	0	not done		synonymous	
YLPM1		inserm.fr	GRCh37	14	75264971	75264971	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC891T																					ENST00000325680.7:c.2971C>T	p.His991Tyr	p.H991Y	ENST00000325680	NM_019589.2	991	Cat/Tat	0	not done		possiblydamaging	
BCAR1		inserm.fr	GRCh37	16	75269075	75269075	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000418647.3:c.1860G>A	p.Glu620=	p.E620=	ENST00000418647	NM_001170714.1	620	gaG/gaA	0	not done		synonymous	
USP54		inserm.fr	GRCh37	10	75280739	75280739	+	synonymous_variant	Silent	SNP	C	T	T			CHC304T																					ENST00000339859.4:c.2409G>A	p.Val803=	p.V803=	ENST00000339859		803	gtG/gtA	0	validated		synonymous	
USP54		inserm.fr	GRCh37	10	75301177	75301177	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2127T																					ENST00000339859.4:c.781G>A	p.Glu261Lys	p.E261K	ENST00000339859		261	Gaa/Aaa	0	not done		probablydamaging	
CFDP1		inserm.fr	GRCh37	16	75338932	75338932	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2321T																					ENST00000283882.3:c.799G>A	p.Gly267Arg	p.G267R	ENST00000283882	NM_006324.2	267	Ggg/Agg	0	validated		probablydamaging	
DLST		inserm.fr	GRCh37	14	75360101	75360101	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1598T																					ENST00000334220.4:c.646G>T	p.Gly216Cys	p.G216C	ENST00000334220	NM_001933.4	216	Ggc/Tgc	0	not done		benign	
TMC1		inserm.fr	GRCh37	9	75366779	75366779	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000297784.5:c.549C>T	p.Ser183=	p.S183=	ENST00000297784	NM_138691.2	183	tcC/tcT	0	not done		synonymous	
SEPT9		inserm.fr	GRCh37	17	75369624	75369624	+	intron_variant	Intron	SNP	G	T	T			CHC961T																					ENST00000427177.1:c.77-28517G>T		*26*	ENST00000427177	NM_001113491.1			0	validated		synonymous	
MAP6		inserm.fr	GRCh37	11	75378650	75378650	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000304771.3:c.765G>A	p.Gly255=	p.G255=	ENST00000304771	NM_033063.1	255	ggG/ggA	0	not done		synonymous	
RPS6KL1		inserm.fr	GRCh37	14	75388122	75388122	+	synonymous_variant	Silent	SNP	C	T	T			CHC614T																					ENST00000555647.1:c.123G>A	p.Val41=	p.V41=	ENST00000555647		41	gtG/gtA	0	validated		synonymous	
MYOZ1		inserm.fr	GRCh37	10	75394482	75394482	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB157T																					ENST00000359322.4:c.262C>A	p.Gln88Lys	p.Q88K	ENST00000359322	NM_021245.3	88	Cag/Aag	0	validated		probablydamaging	
PBDC1		inserm.fr	GRCh37	X	75397492	75397492	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000373358.3:c.451C>T	p.Arg151Trp	p.R151W	ENST00000373358	NM_016500.3	151	Cgg/Tgg	0	not done		probablydamaging	
SYNPO2L		inserm.fr	GRCh37	10	75407750	75407750	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000394810.2:c.1660G>A	p.Ala554Thr	p.A554T	ENST00000394810	NM_001114133.1	554	Gcc/Acc	0	not done		possiblydamaging	
KCNC2		inserm.fr	GRCh37	12	75434897	75434897	+	3_prime_UTR_variant	3'UTR	SNP	G	T	T			CHC1531T																					ENST00000549446.1:c.*1988C>A		*663*	ENST00000549446	NM_001260497.1			0	not done			
EIF2B2		inserm.fr	GRCh37	14	75471501	75471501	+	synonymous_variant	Silent	SNP	C	T	T			CHC2128T																					ENST00000266126.5:c.495C>T	p.Ile165=	p.I165=	ENST00000266126	NM_014239.3	165	atC/atT	0	not done		synonymous	
SEPT9		inserm.fr	GRCh37	17	75483634	75483634	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000427177.1:c.1042G>T	p.Asp348Tyr	p.D348Y	ENST00000427177	NM_001113491.1	348	Gat/Tat	0	not done		probablydamaging	
C15orf39		inserm.fr	GRCh37	15	75499953	75499953	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC2099T																					ENST00000360639.2:c.1564G>T	p.Glu522Ter	p.E522*	ENST00000360639		522	Gag/Tag	0	not done		damaging	
SV2C		inserm.fr	GRCh37	5	75505692	75505692	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T									Valid												ENST00000502798.2:c.893G>T	p.Trp298Leu	p.W298L	ENST00000502798	NM_014979.1	298	tGg/tTg	0	validated		possiblydamaging	
CHST6		inserm.fr	GRCh37	16	75513466	75513466	+	synonymous_variant	Silent	SNP	C	T	T			CHC1595T																					ENST00000332272.4:c.261G>A	p.Thr87=	p.T87=	ENST00000332272	NM_021615.4	87	acG/acA	0	validated		synonymous	
CHST6		inserm.fr	GRCh37	16	75513639	75513639	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000332272.4:c.88G>A	p.Gly30Arg	p.G30R	ENST00000332272	NM_021615.4	30	Ggg/Agg	0	not done		benign	
SEC24C		inserm.fr	GRCh37	10	75529596	75529596	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1044T																					ENST00000339365.2:c.2685G>T	p.Leu895Phe	p.L895F	ENST00000339365	NM_004922.3	895	ttG/ttT	0	not done		probablydamaging	
TMEM231		inserm.fr	GRCh37	16	75573916	75573916	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC917T																					ENST00000568377.1:c.1014C>A	p.Asp338Glu	p.D338E	ENST00000568377	NM_001077416.2	338	gaC/gaA	0	validated		benign	
CAMK2G		inserm.fr	GRCh37	10	75587862	75587862	+	intron_variant	Intron	SNP	G	T	T			CHC327T																					ENST00000322680.3:c.991-2757C>A		*331*	ENST00000322680	NM_172170.4			0	validated		synonymous	
SV2C		inserm.fr	GRCh37	5	75597249	75597249	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2110Tbis																					ENST00000502798.2:c.1879C>T	p.Leu627Phe	p.L627F	ENST00000502798	NM_014979.1	627	Ctt/Ttt	0	not done		probablydamaging	
KCNC2		inserm.fr	GRCh37	12	75601572	75601572	+	synonymous_variant	Silent	SNP	C	T	T			CHC1754T																					ENST00000549446.1:c.192G>A	p.Pro64=	p.P64=	ENST00000549446	NM_001260497.1	64	ccG/ccA	0	not done		synonymous	
POR		inserm.fr	GRCh37	7	75615001	75615001	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM265T																					ENST00000461988.1:c.1503G>T	p.Glu501Asp	p.E501D	ENST00000461988	NM_000941.2	501	gaG/gaT	0	validated		benign	
STYXL1		inserm.fr	GRCh37	7	75633075	75633075	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000248600.1:c.697+1G>A		p.X233_splice	ENST00000248600	NM_016086.2			0	not done		damaging	
MAGEE1		inserm.fr	GRCh37	X	75650878	75650878	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361470.2:c.2555C>T	p.Ala852Val	p.A852V	ENST00000361470	NM_020932.2	852	gCc/gTc	0	not done		probablydamaging	
ADAT1		inserm.fr	GRCh37	16	75654188	75654188	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000307921.3:c.214G>A	p.Gly72Arg	p.G72R	ENST00000307921	NM_012091.3	72	Gga/Aga	0	not done		probablydamaging	
SIN3A		inserm.fr	GRCh37	15	75668048	75668048	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000394947.3:c.3549G>A	p.Glu1183=	p.E1183=	ENST00000394947	NM_001145358.1	1183	gaG/gaA	0	not done		synonymous	
PLAU		inserm.fr	GRCh37	10	75674619	75674619	+	synonymous_variant	Silent	SNP	C	T	T			CHC1040T																					ENST00000372764.3:c.915C>T	p.Asn305=	p.N305=	ENST00000372764	NM_002658.3	305	aaC/aaT	0	not done		synonymous	
CAPS2		inserm.fr	GRCh37	12	75676031	75676031	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000409445.3:c.1669G>A	p.Gly557Ser	p.G557S	ENST00000409445	NM_032606.3	557	Ggt/Agt	0	not done		probablydamaging	
DSP		inserm.fr	GRCh37	6	7567630	7567630	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1597T																					ENST00000379802.3:c.1088A>T	p.Gln363Leu	p.Q363L	ENST00000379802	NM_004415.2	363	cAg/cTg	0	not done		probablydamaging	
SLC44A5		inserm.fr	GRCh37	1	75681450	75681450	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000370855.5:c.1717G>A	p.Ala573Thr	p.A573T	ENST00000370855	NM_152697.4	573	Gcc/Acc	0	validated		probablydamaging	
KARS		inserm.fr	GRCh37	16	75681528	75681528	+	5_prime_UTR_variant	5'UTR	SNP	C	T	T			CHC1186T																					ENST00000319410.5:c.-87G>A		*29*	ENST00000319410	NM_001130089.1			0	not done		benign	
SLC44A5		inserm.fr	GRCh37	1	75684332	75684332	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1717T																					ENST00000370855.5:c.1372G>A	p.Val458Ile	p.V458I	ENST00000370855	NM_152697.4	458	Gta/Ata	0	not done		benign	
SIN3A		inserm.fr	GRCh37	15	75684643	75684643	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM723T																					ENST00000394947.3:c.2791C>A	p.Leu931Met	p.L931M	ENST00000394947	NM_001145358.1	931	Ctg/Atg	0	validated		possiblydamaging	
C19orf45		inserm.fr	GRCh37	19	7569287	7569287	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361664.2:c.772C>T	p.Pro258Ser	p.P258S	ENST00000361664	NM_198534.2	258	Cct/Tct	0	not done		benign	
SLC44A5		inserm.fr	GRCh37	1	75693489	75693489	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370855.5:c.907G>A	p.Val303Ile	p.V303I	ENST00000370855	NM_152697.4	303	Gta/Ata	0	not done		benign	
MDH2		inserm.fr	GRCh37	7	75694182	75694182	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1531T																					ENST00000315758.5:c.796A>T	p.Met266Leu	p.M266L	ENST00000315758	NM_005918.2	266	Atg/Ttg	0	not done		benign	
SIN3A		inserm.fr	GRCh37	15	75702545	75702545	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1591T																					ENST00000394947.3:c.1091G>A	p.Arg364His	p.R364H	ENST00000394947	NM_001145358.1	364	cGt/cAt	0	not done		probablydamaging	
SLC44A5		inserm.fr	GRCh37	1	75704211	75704211	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2216T																					ENST00000370855.5:c.643G>A	p.Gly215Arg	p.G215R	ENST00000370855	NM_152697.4	215	Ggg/Agg	0	not done		benign	
MISP		inserm.fr	GRCh37	19	757223	757223	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000215582.6:c.277C>T	p.Gln93Ter	p.Q93*	ENST00000215582	NM_173481.2	93	Cag/Tag	0	not done		damaging	
SLC44A5		inserm.fr	GRCh37	1	75740722	75740722	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370855.5:c.181G>A	p.Val61Ile	p.V61I	ENST00000370855	NM_152697.4	61	Gta/Ata	0	not done		benign	
TP53		inserm.fr	GRCh37	17	7577082	7577082	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1568T																					ENST00000269305.4:c.856G>A	p.Glu286Lys	p.E286K	ENST00000269305	NM_001126112.2	286	Gaa/Aaa	0	validated		probablydamaging	
TP53		inserm.fr	GRCh37	17	7577141	7577141	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC889T																					ENST00000269305.4:c.797G>A	p.Gly266Glu	p.G266E	ENST00000269305	NM_001126112.2	266	gGa/gAa	0	validated		probablydamaging	
TP53		inserm.fr	GRCh37	17	7577571	7577571	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM397T									Valid												ENST00000269305.4:c.710T>A	p.Met237Lys	p.M237K	ENST00000269305	NM_001126112.2	237	aTg/aAg	0	validated		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578211	7578211	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC896T																					ENST00000269305.4:c.638G>A	p.Arg213Gln	p.R213Q	ENST00000269305	NM_001126112.2	213	cGa/cAa	0	validated		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578211	7578211	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1534T									Valid												ENST00000269305.4:c.638G>A	p.Arg213Gln	p.R213Q	ENST00000269305	NM_001126112.2	213	cGa/cAa	0	no detection		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578443	7578443	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM703T									Valid												ENST00000269305.4:c.487T>A	p.Tyr163Asn	p.Y163N	ENST00000269305	NM_001126112.2	163	Tac/Aac	0	validated		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578496	7578496	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1604T									Valid												ENST00000269305.4:c.434T>A	p.Leu145Gln	p.L145Q	ENST00000269305	NM_001126112.2	145	cTg/cAg	0	not done		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578503	7578503	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM531T									Valid												ENST00000269305.4:c.427G>A	p.Val143Met	p.V143M	ENST00000269305	NM_001126112.2	143	Gtg/Atg	0	validated		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578551	7578551	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM543T									Valid												ENST00000269305.4:c.379T>A	p.Ser127Thr	p.S127T	ENST00000269305	NM_001126112.2	127	Tcc/Acc	0	validated		probablydamaging	
TP53		inserm.fr	GRCh37	17	7578554	7578554	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	T	T			BCM543T																					ENST00000269305.4:c.376T>A	p.Tyr126Asn	p.Y126N	ENST00000269305	NM_001126112.2	126	Tac/Aac	0	validated		probablydamaging	
ZNF717		inserm.fr	GRCh37	3	75786430	75786430	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1616T																					ENST00000422325.1:c.2344G>A	p.Gly782Arg	p.G782R	ENST00000422325	NM_001128223.1	782	Gga/Aga	0	not done		probablydamaging	
COL12A1		inserm.fr	GRCh37	6	75831018	75831018	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000322507.8:c.7086G>A	p.Gln2362=	p.Q2362=	ENST00000322507	NM_004370.5	2362	caG/caA	0	not done		damaging	
COL12A1		inserm.fr	GRCh37	6	75834842	75834842	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC313T									Valid												ENST00000322507.8:c.6607+1G>A		p.X2203_splice	ENST00000322507	NM_004370.5			0	validated		damaging	
COL12A1		inserm.fr	GRCh37	6	75839950	75839950	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000322507.8:c.6068-1G>A		p.X2023_splice	ENST00000322507	NM_004370.5			0	not done		damaging	
COL12A1		inserm.fr	GRCh37	6	75847278	75847278	+	synonymous_variant	Silent	SNP	G	T	T			CHC1207T																					ENST00000322507.8:c.5269C>A	p.Arg1757=	p.R1757=	ENST00000322507	NM_004370.5	1757	Cga/Aga	0	not done		synonymous	
ZNF358		inserm.fr	GRCh37	19	7585047	7585047	+	synonymous_variant	Silent	SNP	C	T	T			BCM683T																					ENST00000597229.1:c.919C>T	p.Leu307=	p.L307=	ENST00000597229	NM_018083.4	307	Ctg/Ttg	0	validated		synonymous	
COL12A1		inserm.fr	GRCh37	6	75853058	75853058	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC218T																					ENST00000322507.8:c.4737C>A	p.His1579Gln	p.H1579Q	ENST00000322507	NM_004370.5	1579	caC/caA	0	validated		probablydamaging	
COL12A1		inserm.fr	GRCh37	6	75855169	75855169	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC2110Tbis																					ENST00000322507.8:c.4563G>A	p.Val1521=	p.V1521=	ENST00000322507	NM_004370.5	1521	gtG/gtA	0	not done		synonymous	
COL12A1		inserm.fr	GRCh37	6	75875472	75875472	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000322507.8:c.2734G>A	p.Val912Ile	p.V912I	ENST00000322507	NM_004370.5	912	Gtt/Att	0	not done		benign	
AP3M1		inserm.fr	GRCh37	10	75889725	75889725	+	synonymous_variant	Silent	SNP	C	T	T			CHC1704T																					ENST00000355264.4:c.609G>A	p.Gln203=	p.Q203=	ENST00000355264	NM_012095.4	203	caG/caA	0	not done		synonymous	
CRISPLD1		inserm.fr	GRCh37	8	75898352	75898352	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2200T																					ENST00000262207.4:c.130G>T	p.Gly44Cys	p.G44C	ENST00000262207	NM_031461.5	44	Ggt/Tgt	0	not done		possiblydamaging	
COL12A1		inserm.fr	GRCh37	6	75901447	75901447	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000322507.8:c.364G>A	p.Glu122Lys	p.E122K	ENST00000322507	NM_004370.5	122	Gag/Aag	0	not done		possiblydamaging	
COL12A1		inserm.fr	GRCh37	6	75904552	75904552	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1035T																					ENST00000322507.8:c.185C>A	p.Thr62Lys	p.T62K	ENST00000322507	NM_004370.5	62	aCa/aAa	0	validated		possiblydamaging	
COL12A1		inserm.fr	GRCh37	6	75912464	75912464	+	synonymous_variant	Silent	SNP	G	T	T			CHC051T																					ENST00000322507.8:c.45C>A	p.Ala15=	p.A15=	ENST00000322507	NM_004370.5	15	gcC/gcA	0	validated		synonymous	
SRRM3		inserm.fr	GRCh37	7	75915120	75915120	+	3_prime_UTR_variant	3'UTR	SNP	G	T	T			CHC2141T																					ENST00000326382.8:c.*127G>T		*43*	ENST00000326382	NM_001110199.1			0	validated		probablydamaging	
MCOLN1		inserm.fr	GRCh37	19	7592500	7592500	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000264079.6:c.666G>T	p.Thr222=	p.T222=	ENST00000264079	NM_020533.2	222	acG/acT	0	validated		synonymous	
TBC1D4		inserm.fr	GRCh37	13	75933904	75933904	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000377636.3:c.1170+1G>A		p.X390_splice	ENST00000377636	NM_014832.2			0	not done		damaging	
PARM1		inserm.fr	GRCh37	4	75938084	75938084	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC303T									Valid												ENST00000307428.7:c.493C>T	p.Pro165Ser	p.P165S	ENST00000307428	NM_015393.3	165	Cca/Tca	0	validated		probablydamaging	
IQGAP2		inserm.fr	GRCh37	5	75964559	75964559	+	synonymous_variant	Silent	SNP	C	T	T			CHC2127T																					ENST00000274364.6:c.2733C>T	p.Ser911=	p.S911=	ENST00000274364	NM_006633.2	911	tcC/tcT	0	validated		synonymous	
CSPG4		inserm.fr	GRCh37	15	75968512	75968512	+	synonymous_variant	Silent	SNP	C	T	T			BCM617T																					ENST00000308508.5:c.6348G>A	p.Gln2116=	p.Q2116=	ENST00000308508	NM_001897.4	2116	caG/caA	0	validated		synonymous	
CSPG4		inserm.fr	GRCh37	15	75968644	75968644	+	synonymous_variant	Silent	SNP	C	T	T			CHC1616T																					ENST00000308508.5:c.6216G>A	p.Glu2072=	p.E2072=	ENST00000308508	NM_001897.4	2072	gaG/gaA	0	not done		synonymous	
CSPG4		inserm.fr	GRCh37	15	75982384	75982384	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM735T																					ENST00000308508.5:c.1022G>A	p.Gly341Asp	p.G341D	ENST00000308508	NM_001897.4	341	gGc/gAc	0	validated		possiblydamaging	
BATF		inserm.fr	GRCh37	14	75991492	75991492	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000286639.6:c.129C>T	p.Ser43=	p.S43=	ENST00000286639	NM_006399.3	43	agC/agT	0	not done		synonymous	
FILIP1		inserm.fr	GRCh37	6	76023200	76023200	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC301T									Valid												ENST00000237172.7:c.2348G>A	p.Ser783Asn	p.S783N	ENST00000237172	NM_015687.2	783	aGc/aAc	0	validated		possiblydamaging	
TNRC6C		inserm.fr	GRCh37	17	76045788	76045788	+	synonymous_variant	Silent	SNP	G	T	T			BCM735T																					ENST00000335749.4:c.645G>T	p.Gly215=	p.G215=	ENST00000335749	NM_001142640.1	215	ggG/ggT	0	validated		synonymous	
TNRC6C		inserm.fr	GRCh37	17	76073397	76073397	+	synonymous_variant	Silent	SNP	C	T	T			CHC1534T																					ENST00000335749.4:c.3183C>T	p.Asn1061=	p.N1061=	ENST00000335749	NM_001142640.1	1061	aaC/aaT	0	validated		synonymous	
TNRC6C		inserm.fr	GRCh37	17	76083042	76083042	+	synonymous_variant	Silent	SNP	C	T	T			CHC1725T																					ENST00000335749.4:c.3661C>T	p.Leu1221=	p.L1221=	ENST00000335749	NM_001142640.1	1221	Ctg/Ttg	0	not done		synonymous	
TNRC6C		inserm.fr	GRCh37	17	76083173	76083173	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC2128T																					ENST00000335749.4:c.3792C>T	p.Leu1264=	p.L1264=	ENST00000335749	NM_001142640.1	1264	ctC/ctT	0	not done		damaging	
TMC6		inserm.fr	GRCh37	17	76113953	76113953	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM769T																					ENST00000590602.1:c.1951G>A	p.Val651Ile	p.V651I	ENST00000590602		651	Gtc/Atc	0	validated		benign	
TMC6		inserm.fr	GRCh37	17	76113975	76113975	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000590602.1:c.1929G>A	p.Trp643Ter	p.W643*	ENST00000590602		643	tgG/tgA	0	not done		damaging	
TMC6		inserm.fr	GRCh37	17	76115096	76115096	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM269T									Valid												ENST00000590602.1:c.1843G>A	p.Ala615Thr	p.A615T	ENST00000590602		615	Gcc/Acc	0	validated		probablydamaging	
C14orf1		inserm.fr	GRCh37	14	76121301	76121301	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC794T																					ENST00000256319.6:c.152G>A	p.Arg51Gln	p.R51Q	ENST00000256319	NM_007176.3	51	cGg/cAg	0	validated		probablydamaging	
TMC8		inserm.fr	GRCh37	17	76137136	76137136	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1183T																					ENST00000318430.5:c.2124G>T	p.Gln708His	p.Q708H	ENST00000318430	NM_152468.4	708	caG/caT	0	not done		benign	
PNPLA6		inserm.fr	GRCh37	19	7614941	7614941	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC884T																					ENST00000414982.3:c.1784C>T	p.Thr595Ile	p.T595I	ENST00000414982	NM_001166111.1	595	aCa/aTa	0	validated		possiblydamaging	
C17orf99		inserm.fr	GRCh37	17	76160344	76160344	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000340363.5:c.539C>T	p.Ala180Val	p.A180V	ENST00000340363	NM_001163075.1	180	gCc/gTc	0	not done		probablydamaging	
PNPLA6		inserm.fr	GRCh37	19	7620141	7620141	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000414982.3:c.2854C>T	p.Leu952Phe	p.L952F	ENST00000414982	NM_001166111.1	952	Ctc/Ttc	0	validated		benign	
ITIH5		inserm.fr	GRCh37	10	7621760	7621760	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1763T																					ENST00000256861.6:c.1376G>A	p.Arg459Gln	p.R459Q	ENST00000256861	NM_030569.6	459	cGg/cAg	0	not done		probablydamaging	
RP11-219G17.4		inserm.fr	GRCh37	17	76267729	76267729	+	non_coding_transcript_exon_variant	RNA	SNP	C	T	T			CHC892T																					ENST00000374945.1:n.369G>A		*123*	ENST00000374945				0	not done			
MSH4		inserm.fr	GRCh37	1	76288152	76288152	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1603T																					ENST00000263187.3:c.1048C>T	p.Arg350Ter	p.R350*	ENST00000263187	NM_002440.3	350	Cga/Tga	0	not done		damaging	
AGGF1		inserm.fr	GRCh37	5	76326802	76326802	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC1041T									Valid												ENST00000312916.7:c.210+1G>T		p.X70_splice	ENST00000312916	NM_018046.4			0	validated		damaging	
ASB17		inserm.fr	GRCh37	1	76397747	76397747	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1205T																					ENST00000284142.6:c.230C>A	p.Ser77Ter	p.S77*	ENST00000284142	NM_080868.2	77	tCa/tAa	0	not done		damaging	
LMO7		inserm.fr	GRCh37	13	76423298	76423298	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC879T																					ENST00000465261.2:c.3535G>T	p.Glu1179Ter	p.E1179*	ENST00000465261	NM_015842.2	1179	Gaa/Taa	0	not done		damaging	
LMO7		inserm.fr	GRCh37	13	76423376	76423376	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2362T																					ENST00000465261.2:c.3613C>T	p.Arg1205Cys	p.R1205C	ENST00000465261	NM_015842.2	1205	Cgc/Tgc	0	validated		probablydamaging	
PHLDA1		inserm.fr	GRCh37	12	76425353	76425353	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC794T																					ENST00000266671.5:c.169G>A	p.Glu57Lys	p.E57K	ENST00000266671		57	Gag/Aag	0	validated		benign	
C15orf27		inserm.fr	GRCh37	15	76430053	76430053	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000388942.3:c.44C>T	p.Ala15Val	p.A15V	ENST00000388942	NM_152335.2	15	gCc/gTc	0	not done		possiblydamaging	
DNAH17		inserm.fr	GRCh37	17	76456273	76456273	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000389840.5:c.9364G>A	p.Ala3122Thr	p.A3122T	ENST00000389840		3122	Gcc/Acc	0	not done			
DNAH17		inserm.fr	GRCh37	17	76471464	76471464	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000389840.5:c.8365G>A	p.Gly2789Ser	p.G2789S	ENST00000389840		2789	Ggc/Agc	0	not done			
DNAH17		inserm.fr	GRCh37	17	76481084	76481084	+	synonymous_variant	Silent	SNP	C	T	T			CHC1708T																					ENST00000389840.5:c.7473G>A	p.Ser2491=	p.S2491=	ENST00000389840		2491	tcG/tcA	0	not done		synonymous	
CNTNAP4		inserm.fr	GRCh37	16	76486514	76486514	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000478060.1:c.962C>T	p.Ala321Val	p.A321V	ENST00000478060	NM_138994.3	321	gCc/gTc	0	not done		benign	
DNAH17		inserm.fr	GRCh37	17	76488781	76488781	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1763T																					ENST00000389840.5:c.6433C>A	p.Pro2145Thr	p.P2145T	ENST00000389840		2145	Ccc/Acc	0	not done			
DNAH17		inserm.fr	GRCh37	17	76490204	76490204	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC917T																					ENST00000389840.5:c.6280G>A	p.Val2094Met	p.V2094M	ENST00000389840		2094	Gtg/Atg	0	validated			
MYO6		inserm.fr	GRCh37	6	76527344	76527344	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1044T																					ENST00000369977.3:c.80A>T	p.Asp27Val	p.D27V	ENST00000369977	NM_004999.3	27	gAc/gTc	0	not done		probablydamaging	
CDKL2		inserm.fr	GRCh37	4	76551005	76551005	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000429927.2:c.168G>A	p.Lys56=	p.K56=	ENST00000429927	NM_003948.3	56	aaG/aaA	0	not done		damaging	
DNAH17		inserm.fr	GRCh37	17	76567440	76567440	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB151T																					ENST00000389840.5:c.753C>A	p.Asn251Lys	p.N251K	ENST00000389840		251	aaC/aaA	0	validated			
CNTNAP4		inserm.fr	GRCh37	16	76592389	76592389	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC1186T																					ENST00000478060.1:c.3517C>T	p.Leu1173=	p.L1173=	ENST00000478060	NM_138994.3	1173	Ctg/Ttg	0	not done		synonymous	
ISL2		inserm.fr	GRCh37	15	76630629	76630629	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000290759.4:c.285C>T	p.Gly95=	p.G95=	ENST00000290759	NM_145805.1	95	ggC/ggT	0	not done		synonymous	
DNAH2		inserm.fr	GRCh37	17	7663189	7663189	+	synonymous_variant	Silent	SNP	C	T	T			CHC1598T																					ENST00000572933.1:c.2718C>T	p.Val906=	p.V906=	ENST00000572933		906	gtC/gtT	0	not done		synonymous	
BBS10		inserm.fr	GRCh37	12	76740611	76740611	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000393262.3:c.1154G>A	p.Gly385Asp	p.G385D	ENST00000393262	NM_024685.3	385	gGc/gAc	0	not done		possiblydamaging	
BBS10		inserm.fr	GRCh37	12	76741104	76741104	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1598T																					ENST00000393262.3:c.661T>A	p.Leu221Met	p.L221M	ENST00000393262	NM_024685.3	221	Ttg/Atg	0	not done		probablydamaging	
SALL3		inserm.fr	GRCh37	18	76752701	76752701	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC801T																					ENST00000537592.2:c.710C>T	p.Pro237Leu	p.P237L	ENST00000537592	NM_171999.3	237	cCg/cTg	0	not done		probablydamaging	
SALL3		inserm.fr	GRCh37	18	76752733	76752733	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM703T																					ENST00000537592.2:c.742C>T	p.Pro248Ser	p.P248S	ENST00000537592	NM_171999.3	248	Ccg/Tcg	0	validated		benign	
SALL3		inserm.fr	GRCh37	18	76754433	76754433	+	synonymous_variant	Silent	SNP	G	T	T			CHC1602T																					ENST00000537592.2:c.2442G>T	p.Ala814=	p.A814=	ENST00000537592	NM_171999.3	814	gcG/gcT	0	not done		synonymous	
SALL3		inserm.fr	GRCh37	18	76754682	76754682	+	synonymous_variant	Silent	SNP	C	T	T			CHC320T																					ENST00000537592.2:c.2691C>T	p.Ser897=	p.S897=	ENST00000537592	NM_171999.3	897	tcC/tcT	0	validated		synonymous	
SALL3		inserm.fr	GRCh37	18	76754733	76754733	+	synonymous_variant	Silent	SNP	C	T	T			BCM545T																					ENST00000537592.2:c.2742C>T	p.Ser914=	p.S914=	ENST00000537592	NM_171999.3	914	agC/agT	0	validated		synonymous	
SALL3		inserm.fr	GRCh37	18	76755236	76755236	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1749T																					ENST00000537592.2:c.3245C>T	p.Ala1082Val	p.A1082V	ENST00000537592	NM_171999.3	1082	gCg/gTg	0	not done		probablydamaging	
SALL3		inserm.fr	GRCh37	18	76757285	76757285	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM723T									Valid												ENST00000537592.2:c.3866G>T	p.Arg1289Leu	p.R1289L	ENST00000537592	NM_171999.3	1289	cGg/cTg	0	validated		probablydamaging	
CAMSAP3		inserm.fr	GRCh37	19	7677518	7677518	+	synonymous_variant	Silent	SNP	G	T	T			CHC197T																					ENST00000446248.2:c.2220G>T	p.Leu740=	p.L740=	ENST00000446248	NM_001080429.2	740	ctG/ctT	0	validated		synonymous	
KAT6B		inserm.fr	GRCh37	10	76788536	76788536	+	synonymous_variant	Silent	SNP	G	T	T			CHC313T																					ENST00000287239.4:c.3954G>T	p.Leu1318=	p.L1318=	ENST00000287239	NM_001256468.1	1318	ctG/ctT	0	validated		synonymous	
KAT6B		inserm.fr	GRCh37	10	76790661	76790661	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM543T																					ENST00000287239.4:c.6079A>T	p.Met2027Leu	p.M2027L	ENST00000287239	NM_001256468.1	2027	Atg/Ttg	0	validated		possiblydamaging	
PPEF2		inserm.fr	GRCh37	4	76794418	76794418	+	synonymous_variant	Silent	SNP	C	T	T			CHC2103T																					ENST00000286719.7:c.1368G>A	p.Lys456=	p.K456=	ENST00000286719	NM_006239.2	456	aaG/aaA	0	not done		synonymous	
DNAH2		inserm.fr	GRCh37	17	7681616	7681616	+	synonymous_variant	Silent	SNP	C	T	T			CHC1154T																					ENST00000572933.1:c.5370C>T	p.Thr1790=	p.T1790=	ENST00000572933		1790	acC/acT	0	not done		synonymous	
ITIH5		inserm.fr	GRCh37	10	7683958	7683958	+	synonymous_variant	Silent	SNP	A	T	T			CHC1531T																					ENST00000256861.6:c.231T>A	p.Ala77=	p.A77=	ENST00000256861	NM_030569.6	77	gcT/gcA	0	not done		synonymous	
DUSP13		inserm.fr	GRCh37	10	76861690	76861690	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000372700.3:c.150-4047G>A		*50*	ENST00000372700	NM_001007272.1			0	not done		synonymous	
SCAPER		inserm.fr	GRCh37	15	76866527	76866527	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000563290.1:c.2810G>A	p.Gly937Glu	p.G937E	ENST00000563290		937	gGa/gAa	0	not done		probablydamaging	
MYO7A		inserm.fr	GRCh37	11	76874025	76874025	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC307T																					ENST00000409709.3:c.1681G>T	p.Glu561Ter	p.E561*	ENST00000409709	NM_000260.3	561	Gag/Tag	0	validated		damaging	
MYO7A		inserm.fr	GRCh37	11	76877176	76877176	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1746T																					ENST00000409709.3:c.1765A>T	p.Ile589Phe	p.I589F	ENST00000409709	NM_000260.3	589	Atc/Ttc	0	not done		possiblydamaging	
MYO7A		inserm.fr	GRCh37	11	76886454	76886454	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1629T																					ENST00000409709.3:c.2131G>T	p.Ala711Ser	p.A711S	ENST00000409709	NM_000260.3	711	Gct/Tct	0	not done		benign	
TIMP2		inserm.fr	GRCh37	17	76887376	76887376	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC879T																					ENST00000322630.2:c.1210G>A	p.Gly404Arg	p.G404R	ENST00000322630	NM_001243540.1	404	Ggg/Agg	0	not done			
TIMP2		inserm.fr	GRCh37	17	76888234	76888234	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC896T																					ENST00000322630.2:c.352T>A	p.Tyr118Asn	p.Y118N	ENST00000322630	NM_001243540.1	118	Tat/Aat	0	not done			
XAB2		inserm.fr	GRCh37	19	7689248	7689248	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000358368.4:c.906C>A	p.Phe302Leu	p.F302L	ENST00000358368	NM_020196.2	302	ttC/ttA	0	not done		probablydamaging	
CYB5R2		inserm.fr	GRCh37	11	7689758	7689758	+	synonymous_variant	Silent	SNP	C	T	T			CHC451T																					ENST00000533558.1:c.423G>A	p.Glu141=	p.E141=	ENST00000533558		141	gaG/gaA	0	not done		synonymous	
ESRRB		inserm.fr	GRCh37	14	76905984	76905984	+	synonymous_variant	Silent	SNP	C	T	T			BCB307T																					ENST00000380887.2:c.288C>T	p.Asn96=	p.N96=	ENST00000380887		96	aaC/aaT	0	validated		synonymous	
XAB2		inserm.fr	GRCh37	19	7690849	7690849	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000358368.4:c.739G>A	p.Gly247Ser	p.G247S	ENST00000358368	NM_020196.2	247	Ggc/Agc	0	not done		probablydamaging	
MYO7A		inserm.fr	GRCh37	11	76910706	76910706	+	synonymous_variant	Silent	SNP	G	T	T			CHC304T																					ENST00000409709.3:c.4695G>T	p.Thr1565=	p.T1565=	ENST00000409709	NM_000260.3	1565	acG/acT	0	validated		synonymous	
ATRX		inserm.fr	GRCh37	X	76939397	76939397	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000373344.5:c.1351G>A	p.Ala451Thr	p.A451T	ENST00000373344	NM_000489.3	451	Gct/Act	0	not done		benign	
ESRRB		inserm.fr	GRCh37	14	76958010	76958010	+	synonymous_variant	Silent	SNP	G	T	T			BCM783T																					ENST00000380887.2:c.1008G>T	p.Val336=	p.V336=	ENST00000380887		336	gtG/gtT	0	validated		synonymous	
ADCY2		inserm.fr	GRCh37	5	7695966	7695966	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1754T																					ENST00000338316.4:c.971A>T	p.Gln324Leu	p.Q324L	ENST00000338316	NM_020546.2	324	cAa/cTa	0	not done		possiblydamaging	
CANT1		inserm.fr	GRCh37	17	76993074	76993074	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000302345.2:c.631G>A	p.Gly211Ser	p.G211S	ENST00000302345	NM_001159773.1	211	Ggc/Agc	0	not done		probablydamaging	
PION		inserm.fr	GRCh37	7	77006202	77006202	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000257626.7:c.704G>A	p.Cys235Tyr	p.C235Y	ENST00000257626	NM_017439.3	235	tGt/tAt	0	validated		probablydamaging	
PAK1		inserm.fr	GRCh37	11	77066870	77066870	+	synonymous_variant	Silent	SNP	C	T	T			CHC1751T																					ENST00000356341.3:c.615G>A	p.Val205=	p.V205=	ENST00000356341	NM_002576.4	205	gtG/gtA	0	not done		synonymous	
ENGASE		inserm.fr	GRCh37	17	77071037	77071037	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM439T									Valid												ENST00000579016.1:c.11C>T	p.Ala4Val	p.A4V	ENST00000579016	NM_001042573.2	4	gCg/gTg	0	validated		possiblydamaging	
RBFOX3		inserm.fr	GRCh37	17	77091632	77091632	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM483T									Valid												ENST00000415831.1:c.820G>A	p.Ala274Thr	p.A274T	ENST00000415831		274	Gct/Act	0	validated		possiblydamaging	
RBFOX3		inserm.fr	GRCh37	17	77111721	77111721	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1700T																					ENST00000415831.1:c.77C>A	p.Pro26Gln	p.P26Q	ENST00000415831		26	cCa/cAa	0	validated		benign	
DNAH2		inserm.fr	GRCh37	17	7721699	7721699	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000572933.1:c.10457C>T	p.Thr3486Ile	p.T3486I	ENST00000572933		3486	aCc/aTc	0	not done		probablydamaging	
ZDHHC17		inserm.fr	GRCh37	12	77220773	77220773	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC197T									Valid												ENST00000426126.2:c.983G>T	p.Trp328Leu	p.W328L	ENST00000426126	NM_015336.2	328	tGg/tTg	0	validated		possiblydamaging	
MON1B		inserm.fr	GRCh37	16	77225414	77225414	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2202T																					ENST00000248248.3:c.32C>T	p.Ala11Val	p.A11V	ENST00000248248	NM_014940.2	11	gCc/gTc	0	validated		benign	
MON1B		inserm.fr	GRCh37	16	77228593	77228593	+	synonymous_variant	Silent	SNP	A	T	T			CHC703T																					ENST00000248248.3:c.837A>T	p.Ala279=	p.A279=	ENST00000248248	NM_014940.2	279	gcA/gcT	0	not done		synonymous	
VASH1		inserm.fr	GRCh37	14	77229440	77229440	+	synonymous_variant	Silent	SNP	G	T	T			CHC1602T																					ENST00000167106.4:c.276G>T	p.Ala92=	p.A92=	ENST00000167106	NM_014909.4	92	gcG/gcT	0	not done		synonymous	
CAMTA1		inserm.fr	GRCh37	1	7725155	7725155	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM483T									Valid												ENST00000303635.7:c.2548G>T	p.Glu850Ter	p.E850*	ENST00000303635	NM_015215.2	850	Gag/Tag	0	validated		damaging	
CAMTA1		inserm.fr	GRCh37	1	7725156	7725156	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM483T									Valid												ENST00000303635.7:c.2549A>T	p.Glu850Val	p.E850V	ENST00000303635	NM_015215.2	850	gAg/gTg	0	validated		probablydamaging	
C14orf166B		inserm.fr	GRCh37	14	77292924	77292924	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000393774.3:c.86C>T	p.Pro29Leu	p.P29L	ENST00000393774	NM_194287.2	29	cCa/cTa	0	not done		benign	
RORB		inserm.fr	GRCh37	9	77300407	77300407	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM371T																					ENST00000376896.3:c.1253C>T	p.Ala418Val	p.A418V	ENST00000376896	NM_006914.3	418	gCa/gTa	0	validated		benign	
CCDC158		inserm.fr	GRCh37	4	77305417	77305417	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000388914.3:c.550G>A	p.Gly184Arg	p.G184R	ENST00000388914	NM_001042784.1	184	Gga/Aga	0	not done		probablydamaging	
ADAMTS18		inserm.fr	GRCh37	16	77317892	77317892	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC879T																					ENST00000282849.5:c.3627C>A	p.Tyr1209Ter	p.Y1209*	ENST00000282849	NM_199355.2	1209	taC/taA	0	not done		damaging	
PSTPIP1		inserm.fr	GRCh37	15	77323561	77323561	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1207T																					ENST00000558012.1:c.683G>T	p.Arg228Leu	p.R228L	ENST00000558012	NM_003978.3	228	cGc/cTc	0	not done		probablydamaging	
ADAMTS18		inserm.fr	GRCh37	16	77328854	77328854	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1715T																					ENST00000282849.5:c.2972G>A	p.Cys991Tyr	p.C991Y	ENST00000282849	NM_199355.2	991	tGc/tAc	0	not done		probablydamaging	
ADAMTS18		inserm.fr	GRCh37	16	77353798	77353798	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM257T																					ENST00000282849.5:c.2480G>A	p.Arg827His	p.R827H	ENST00000282849	NM_199355.2	827	cGc/cAc	0	validated		benign	
TRPM6		inserm.fr	GRCh37	9	77377324	77377324	+	synonymous_variant	Silent	SNP	C	T	T			CHC429T																					ENST00000360774.1:c.4263G>A	p.Glu1421=	p.E1421=	ENST00000360774	NM_017662.4	1421	gaG/gaA	0	validated		synonymous	
TRPM6		inserm.fr	GRCh37	9	77397383	77397383	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000360774.1:c.3104G>A	p.Ser1035Asn	p.S1035N	ENST00000360774	NM_017662.4	1035	aGc/aAc	0	not done		benign	
RSF1		inserm.fr	GRCh37	11	77409535	77409535	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000308488.6:c.2712G>A	p.Glu904=	p.E904=	ENST00000308488		904	gaG/gaA	0	not done		synonymous	
TRPM6		inserm.fr	GRCh37	9	77411757	77411757	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC301T																					ENST00000360774.1:c.2291G>A	p.Ser764Asn	p.S764N	ENST00000360774	NM_017662.4	764	aGc/aAc	0	validated		probablydamaging	
E2F7		inserm.fr	GRCh37	12	77426866	77426866	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1756T																					ENST00000322886.7:c.1346C>A	p.Ala449Glu	p.A449E	ENST00000322886	NM_203394.2	449	gCa/gAa	0	not done		probablydamaging	
AP3B1		inserm.fr	GRCh37	5	77436996	77436996	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000255194.6:c.1621G>A	p.Ala541Thr	p.A541T	ENST00000255194		541	Gca/Aca	0	not done		possiblydamaging	
KCTD12		inserm.fr	GRCh37	13	77459619	77459619	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1717T																					ENST00000377474.2:c.665G>A	p.Arg222Gln	p.R222Q	ENST00000377474	NM_138444.3	222	cGg/cAg	0	not done		probablydamaging	
CTDP1		inserm.fr	GRCh37	18	77464869	77464869	+	synonymous_variant	Silent	SNP	C	T	T			CHC121T																					ENST00000299543.7:c.724C>T	p.Leu242=	p.L242=	ENST00000299543	NM_001202504.1	242	Ctg/Ttg	0	validated		synonymous	
PEAK1		inserm.fr	GRCh37	15	77471338	77471338	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000560626.2:c.2931G>A	p.Ala977=	p.A977=	ENST00000560626		977	gcG/gcA	0	validated		synonymous	
ITIH2		inserm.fr	GRCh37	10	7747146	7747146	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC879T																					ENST00000358415.4:c.159+1G>T		p.X53_splice	ENST00000358415	NM_002216.2			0	not done		possiblydamaging	
CTDP1		inserm.fr	GRCh37	18	77473093	77473093	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC703T																					ENST00000299543.7:c.985A>T	p.Met329Leu	p.M329L	ENST00000299543	NM_001202504.1	329	Atg/Ttg	0	validated		benign	
ITIH2		inserm.fr	GRCh37	10	7751050	7751050	+	synonymous_variant	Silent	SNP	C	T	T			CHC1591T																					ENST00000358415.4:c.258C>T	p.Ala86=	p.A86=	ENST00000358415	NM_002216.2	86	gcC/gcT	0	not done		synonymous	
ST6GALNAC5		inserm.fr	GRCh37	1	77516034	77516034	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000477717.1:c.763C>T	p.Pro255Ser	p.P255S	ENST00000477717	NM_030965.1	255	Ccc/Tcc	0	not done		probablydamaging	
FCER2		inserm.fr	GRCh37	19	7754100	7754100	+	synonymous_variant	Silent	SNP	G	T	T			CHC1041T																					ENST00000346664.5:c.945C>A	p.Pro315=	p.P315=	ENST00000346664	NM_001220500.1	315	ccC/ccA	0	validated		synonymous	
KDM6B		inserm.fr	GRCh37	17	7754483	7754483	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000254846.5:c.3818C>T	p.Ser1273Phe	p.S1273F	ENST00000254846	NM_001080424.1	1273	tCc/tTc	0	validated		probablydamaging	
FCER2		inserm.fr	GRCh37	19	7755382	7755382	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000346664.5:c.531C>A	p.Phe177Leu	p.F177L	ENST00000346664	NM_001220500.1	177	ttC/ttA	0	not done		probablydamaging	
CLN5		inserm.fr	GRCh37	13	77566229	77566229	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM423T																					ENST00000377453.3:c.143G>T	p.Ser48Ile	p.S48I	ENST00000377453	NM_006493.2	48	aGc/aTc	0	validated			
C9orf41		inserm.fr	GRCh37	9	77611391	77611391	+	synonymous_variant	Silent	SNP	G	T	T			CHC1085T																					ENST00000376834.3:c.996C>A	p.Leu332=	p.L332=	ENST00000376834	NM_152420.1	332	ctC/ctA	0	validated		synonymous	
ZFHX4		inserm.fr	GRCh37	8	77617885	77617885	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1201T																					ENST00000521891.2:c.1562G>T	p.Gly521Val	p.G521V	ENST00000521891	NM_024721.4	521	gGt/gTt	0	not done		probablydamaging	
ZFHX4		inserm.fr	GRCh37	8	77618353	77618353	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM783T																					ENST00000521891.2:c.2030G>T	p.Cys677Phe	p.C677F	ENST00000521891	NM_024721.4	677	tGt/tTt	0	validated		probablydamaging	
ZFHX4		inserm.fr	GRCh37	8	77620035	77620035	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1035T									Valid												ENST00000521891.2:c.2845A>T	p.Asn949Tyr	p.N949Y	ENST00000521891	NM_024721.4	949	Aac/Tac	0	validated		probablydamaging	
KCNG2		inserm.fr	GRCh37	18	77623862	77623862	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000316249.3:c.195C>T	p.Ser65=	p.S65=	ENST00000316249	NM_012283.1	65	agC/agT	0	not done		synonymous	
MAGI2		inserm.fr	GRCh37	7	77649174	77649174	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC121T																					ENST00000354212.4:c.3826C>A	p.Pro1276Thr	p.P1276T	ENST00000354212	NM_012301.3	1276	Cct/Act	0	validated		benign	
ROBO2		inserm.fr	GRCh37	3	77656964	77656964	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC917T																					ENST00000487694.3:c.3200A>T	p.Lys1067Ile	p.K1067I	ENST00000487694	NM_001128929.2	1067	aAa/aTa	0	validated		probablydamaging	
SHROOM3		inserm.fr	GRCh37	4	77662920	77662920	+	synonymous_variant	Silent	SNP	C	T	T			CHC794T																					ENST00000296043.6:c.3594C>T	p.Gly1198=	p.G1198=	ENST00000296043	NM_020859.3	1198	ggC/ggT	0	validated		synonymous	
TMEM63C		inserm.fr	GRCh37	14	77705035	77705035	+	splice_acceptor_variant	Splice_Site	SNP	A	T	T			CHC1720T																					ENST00000298351.4:c.652-2A>T		p.X218_splice	ENST00000298351	NM_020431.2			0	not done		possiblydamaging	
MYCBP2		inserm.fr	GRCh37	13	77718616	77718616	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC303T									Valid												ENST00000544440.2:c.7153T>A	p.Tyr2385Asn	p.Y2385N	ENST00000544440		2385	Tac/Aac	0	validated		probablydamaging	
TMEM63C		inserm.fr	GRCh37	14	77722898	77722898	+	synonymous_variant	Silent	SNP	G	T	T			BCB307T																					ENST00000298351.4:c.2250G>T	p.Pro750=	p.P750=	ENST00000298351	NM_020431.2	750	ccG/ccT	0	validated		synonymous	
ADCY2		inserm.fr	GRCh37	5	7773176	7773176	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000338316.4:c.2346C>T	p.Ala782=	p.A782=	ENST00000338316	NM_020546.2	782	gcC/gcT	0	not done		synonymous	
OSTF1		inserm.fr	GRCh37	9	77745496	77745496	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC794T																					ENST00000346234.6:c.135C>T	p.Ser45=	p.S45=	ENST00000346234	NM_012383.4	45	agC/agT	0	validated		synonymous	
LRRTM4		inserm.fr	GRCh37	2	77746211	77746211	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000409093.1:c.784G>A	p.Gly262Arg	p.G262R	ENST00000409093		262	Ggg/Agg	0	not done		probablydamaging	
MYCBP2		inserm.fr	GRCh37	13	77751927	77751927	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2052T																					ENST00000544440.2:c.5182G>A	p.Gly1728Arg	p.G1728R	ENST00000544440		1728	Gga/Aga	0	not done		probablydamaging	
ZFHX4		inserm.fr	GRCh37	8	77764977	77764977	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000521891.2:c.5820C>T	p.Gly1940=	p.G1940=	ENST00000521891	NM_024721.4	1940	ggC/ggT	0	validated		synonymous	
MAGI2		inserm.fr	GRCh37	7	77797397	77797397	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000354212.4:c.2432G>A	p.Gly811Asp	p.G811D	ENST00000354212	NM_012301.3	811	gGc/gAc	0	not done		possiblydamaging	
CBX4		inserm.fr	GRCh37	17	77807881	77807881	+	synonymous_variant	Silent	SNP	G	T	T			CHC155T																					ENST00000269397.4:c.1560C>A	p.Ala520=	p.A520=	ENST00000269397	NM_003655.2	520	gcC/gcA	0	validated		synonymous	
ALG8		inserm.fr	GRCh37	11	77812132	77812132	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM275T									Valid												ENST00000299626.5:c.1459T>A	p.Tyr487Asn	p.Y487N	ENST00000299626	NM_024079.4	487	Tac/Aac	0	validated		possiblydamaging	
SOWAHB		inserm.fr	GRCh37	4	77818962	77818962	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1720T																					ENST00000334306.2:c.41T>A	p.Leu14Gln	p.L14Q	ENST00000334306	NM_001029870.1	14	cTg/cAg	0	not done		probablydamaging	
ALG8		inserm.fr	GRCh37	11	77832141	77832141	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1594T																					ENST00000299626.5:c.448C>A	p.Leu150Met	p.L150M	ENST00000299626	NM_024079.4	150	Ctg/Atg	0	not done		possiblydamaging	
ADNP2		inserm.fr	GRCh37	18	77894276	77894276	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1742T																					ENST00000262198.4:c.980G>T	p.Gly327Val	p.G327V	ENST00000262198	NM_014913.3	327	gGc/gTc	0	not done		benign	
PEX2		inserm.fr	GRCh37	8	77895994	77895994	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1747T																					ENST00000419564.2:c.421T>A	p.Phe141Ile	p.F141I	ENST00000419564	NM_001172087.1	141	Ttt/Att	0	not done		benign	
PEX2		inserm.fr	GRCh37	8	77896024	77896024	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM723T																					ENST00000419564.2:c.391T>A	p.Ser131Thr	p.S131T	ENST00000419564	NM_001172087.1	131	Tca/Aca	0	validated		possiblydamaging	
PEX2		inserm.fr	GRCh37	8	77896233	77896233	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC2216T																					ENST00000419564.2:c.182G>A	p.Trp61Ter	p.W61*	ENST00000419564	NM_001172087.1	61	tGg/tAg	0	not done		damaging	
VIPAS39		inserm.fr	GRCh37	14	77908978	77908978	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1137T																					ENST00000553888.1:c.659G>A	p.Arg220Gln	p.R220Q	ENST00000553888	NM_022067.3	220	cGa/cAa	0	not done		probablydamaging	
USP35		inserm.fr	GRCh37	11	77921586	77921586	+	synonymous_variant	Silent	SNP	C	T	T			BCM275T																					ENST00000529308.1:c.2685C>T	p.Asp895=	p.D895=	ENST00000529308	NM_020798.2	895	gaC/gaT	0	validated		synonymous	
CLEC4G		inserm.fr	GRCh37	19	7796579	7796579	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000328853.5:c.134G>A	p.Trp45Ter	p.W45*	ENST00000328853	NM_001244856.1	45	tGg/tAg	0	not done		damaging	
TBC1D16		inserm.fr	GRCh37	17	77987176	77987176	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000310924.2:c.171G>A	p.Glu57=	p.E57=	ENST00000310924	NM_019020.3	57	gaG/gaA	0	not done		synonymous	
LPAR4		inserm.fr	GRCh37	X	78010463	78010463	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC902T																					ENST00000435339.3:c.97G>T	p.Val33Phe	p.V33F	ENST00000435339	NM_005296.2	33	Gtt/Ttt	0	not done		benign	
AFAP1		inserm.fr	GRCh37	4	7802350	7802350	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC2110Tbis																					ENST00000420658.1:c.1085G>A	p.Trp362Ter	p.W362*	ENST00000420658	NM_001134647.1	362	tGg/tAg	0	not done		damaging	
CHD3		inserm.fr	GRCh37	17	7802681	7802681	+	synonymous_variant	Silent	SNP	C	T	T			CHC1774T																					ENST00000380358.4:c.2541C>T	p.Phe847=	p.F847=	ENST00000380358	NM_001005271.2	847	ttC/ttT	0	validated		synonymous	
CPLX1		inserm.fr	GRCh37	4	780378	780378	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC097T																					ENST00000304062.6:c.316G>A	p.Gly106Arg	p.G106R	ENST00000304062	NM_006651.3	106	Ggg/Agg	0	not done		probablydamaging	
ADCY2		inserm.fr	GRCh37	5	7804786	7804786	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000338316.4:c.2864C>T	p.Pro955Leu	p.P955L	ENST00000338316	NM_020546.2	955	cCc/cTc	0	not done		probablydamaging	
SCEL		inserm.fr	GRCh37	13	78146284	78146284	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM735T																					ENST00000349847.3:c.505C>T	p.Pro169Ser	p.P169S	ENST00000349847	NM_144777.2	169	Cca/Tca	0	validated		probablydamaging	
NARS2		inserm.fr	GRCh37	11	78147814	78147814	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000281038.5:c.1336G>A	p.Gly446Arg	p.G446R	ENST00000281038	NM_001243251.1	446	Ggg/Agg	0	not done		probablydamaging	
SCEL		inserm.fr	GRCh37	13	78165549	78165549	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2048T																					ENST00000349847.3:c.646C>T	p.Pro216Ser	p.P216S	ENST00000349847	NM_144777.2	216	Cca/Tca	0	not done		probablydamaging	
HTR1B		inserm.fr	GRCh37	6	78172197	78172197	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000369947.2:c.924G>A	p.Arg308=	p.R308=	ENST00000369947	NM_000863.1	308	agG/agA	0	not done		synonymous	
CARD14		inserm.fr	GRCh37	17	78176145	78176145	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000573882.1:c.2145C>T	p.Cys715=	p.C715=	ENST00000573882		715	tgC/tgT	0	not done		synonymous	
USP33		inserm.fr	GRCh37	1	78184281	78184281	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC909T																					ENST00000370793.1:c.1830G>A	p.Glu610=	p.E610=	ENST00000370793	NM_015017.4	610	gaG/gaA	0	not done		possiblydamaging	
SGSH		inserm.fr	GRCh37	17	78190859	78190859	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC805T																					ENST00000326317.6:c.221G>A	p.Arg74His	p.R74H	ENST00000326317	NM_000199.3	74	cGc/cAc	0	validated		probablydamaging	
RNF213		inserm.fr	GRCh37	17	78262076	78262076	+	synonymous_variant	Silent	SNP	C	T	T			CHC429T																					ENST00000582970.1:c.724C>T	p.Leu242=	p.L242=	ENST00000582970	NM_001256071.1	242	Ctg/Ttg	0	validated		synonymous	
CFAP90		inserm.fr	GRCh37	5	7832137	7832137	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000399810.2:c.270G>A	p.Gln90=	p.Q90=	ENST00000399810	NM_001089584.2	90	caG/caA	0	not done		synonymous	
CLEC4M		inserm.fr	GRCh37	19	7833792	7833792	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000327325.5:c.1118G>T	p.Gly373Val	p.G373V	ENST00000327325	NM_001144909.1	373	gGc/gTc	0	not done		probablydamaging	
ADCK1		inserm.fr	GRCh37	14	78365583	78365583	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC218T																					ENST00000238561.5:c.723G>T	p.Arg241Ser	p.R241S	ENST00000238561	NM_020421.3	241	agG/agT	0	validated		benign	
TENM4		inserm.fr	GRCh37	11	78369440	78369440	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000278550.7:c.7973G>A	p.Gly2658Asp	p.G2658D	ENST00000278550	NM_001098816.2	2658	gGc/gAc	0	not done		probablydamaging	
BHMT2		inserm.fr	GRCh37	5	78379657	78379657	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM337T																					ENST00000255192.3:c.988A>T	p.Thr330Ser	p.T330S	ENST00000255192	NM_017614.4	330	Acc/Tcc	0	validated		benign	
TENM4		inserm.fr	GRCh37	11	78380141	78380141	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000278550.7:c.7249G>A	p.Gly2417Ser	p.G2417S	ENST00000278550	NM_001098816.2	2417	Ggc/Agc	0	not done		probablydamaging	
CNTROB		inserm.fr	GRCh37	17	7838359	7838359	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000380262.3:c.490G>T	p.Glu164Ter	p.E164*	ENST00000380262	NM_001037144.5	164	Gag/Tag	0	not done		damaging	
ADCK1		inserm.fr	GRCh37	14	78390900	78390900	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000238561.5:c.959C>T	p.Pro320Leu	p.P320L	ENST00000238561	NM_020421.3	320	cCc/cTc	0	not done		benign	
ADCK1		inserm.fr	GRCh37	14	78392246	78392246	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000238561.5:c.1148C>T	p.Ala383Val	p.A383V	ENST00000238561	NM_020421.3	383	gCg/gTg	0	not done		probablydamaging	
SH2D7		inserm.fr	GRCh37	15	78393756	78393756	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000328828.5:c.1161C>T	p.Ala387=	p.A387=	ENST00000328828	NM_001101404.1	387	gcC/gcT	0	not done		synonymous	
CIB2		inserm.fr	GRCh37	15	78397659	78397659	+	synonymous_variant	Silent	SNP	C	T	T			CHC1629T																					ENST00000258930.3:c.558G>A	p.Arg186=	p.R186=	ENST00000258930	NM_006383.3	186	cgG/cgA	0	not done		synonymous	
NAV3		inserm.fr	GRCh37	12	78400330	78400330	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC097T																					ENST00000536525.2:c.1012A>T	p.Asn338Tyr	p.N338Y	ENST00000536525	NM_014903.4	338	Aat/Tat	0	not done		probablydamaging	
NAV3		inserm.fr	GRCh37	12	78400387	78400387	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1756T																					ENST00000536525.2:c.1069A>T	p.Thr357Ser	p.T357S	ENST00000536525	NM_014903.4	357	Acc/Tcc	0	not done		benign	
NAV3		inserm.fr	GRCh37	12	78400636	78400636	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000536525.2:c.1318C>T	p.Pro440Ser	p.P440S	ENST00000536525	NM_014903.4	440	Ccc/Tcc	0	not done		benign	
NPTX1		inserm.fr	GRCh37	17	78449817	78449817	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC302T									Valid												ENST00000306773.4:c.430C>A	p.Leu144Met	p.L144M	ENST00000306773	NM_002522.3	144	Ctg/Atg	0	validated		probablydamaging	
IDH3A		inserm.fr	GRCh37	15	78454031	78454031	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1611T																					ENST00000299518.2:c.398A>T	p.Tyr133Phe	p.Y133F	ENST00000299518	NM_005530.2	133	tAt/tTt	0	not done		benign	
TENM4		inserm.fr	GRCh37	11	78482061	78482061	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM337T																					ENST00000278550.7:c.2515G>A	p.Gly839Ser	p.G839S	ENST00000278550	NM_001098816.2	839	Ggt/Agt	0	validated		benign	
TENM4		inserm.fr	GRCh37	11	78523225	78523225	+	synonymous_variant	Silent	SNP	G	T	T			CHC1592T																					ENST00000278550.7:c.1920C>A	p.Thr640=	p.T640=	ENST00000278550	NM_001098816.2	640	acC/acA	0	not done		synonymous	
CNTROB		inserm.fr	GRCh37	17	7852744	7852744	+	synonymous_variant	Silent	SNP	C	T	T			BCM439T																					ENST00000380262.3:c.2694C>T	p.Pro898=	p.P898=	ENST00000380262	NM_001037144.5	898	ccC/ccT	0	validated		synonymous	
NAV3		inserm.fr	GRCh37	12	78593126	78593126	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1749T																					ENST00000536525.2:c.6464G>T	p.Cys2155Phe	p.C2155F	ENST00000536525	NM_014903.4	2155	tGt/tTt	0	not done		probablydamaging	
TAF3		inserm.fr	GRCh37	10	7860786	7860786	+	synonymous_variant	Silent	SNP	G	T	T			CHC1756T																					ENST00000344293.5:c.114G>T	p.Leu38=	p.L38=	ENST00000344293	NM_031923.3	38	ctG/ctT	0	not done		synonymous	
TENM4		inserm.fr	GRCh37	11	78614482	78614482	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000278550.7:c.580G>A	p.Ala194Thr	p.A194T	ENST00000278550	NM_001098816.2	194	Gcg/Acg	0	not done		benign	
ITM2A		inserm.fr	GRCh37	X	78616894	78616894	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000373298.2:c.635G>A	p.Gly212Asp	p.G212D	ENST00000373298	NM_004867.4	212	gGc/gAc	0	not done		probablydamaging	
ROBO1		inserm.fr	GRCh37	3	78656080	78656080	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000464233.1:c.4547C>A	p.Ala1516Glu	p.A1516E	ENST00000464233	NM_002941.3	1516	gCa/gAa	0	not done		benign	
PCSK5		inserm.fr	GRCh37	9	78686782	78686782	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1594T																					ENST00000545128.1:c.862A>T	p.Thr288Ser	p.T288S	ENST00000545128	NM_001190482.1	288	Acc/Tcc	0	not done		benign	
KCNMA1		inserm.fr	GRCh37	10	78729734	78729734	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			BCM671T																					ENST00000404857.1:c.2184G>A	p.Met728Ile	p.M728I	ENST00000404857	NM_001161353.1	728	atG/atA	0	validated		benign	
KCNMA1		inserm.fr	GRCh37	10	78761200	78761200	+	intron_variant	Intron	SNP	A	T	T			CHC892T																					ENST00000404857.1:c.2092+10525T>A		*698*	ENST00000404857	NM_001161353.1			0	not done		benign	
TXNDC5		inserm.fr	GRCh37	6	7884626	7884626	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000379757.4:c.1142G>A	p.Cys381Tyr	p.C381Y	ENST00000379757	NM_030810.3	381	tGc/tAc	0	not done		probablydamaging	
CEND1		inserm.fr	GRCh37	11	788520	788520	+	synonymous_variant	Silent	SNP	C	T	T			CHC121T																					ENST00000330106.4:c.57G>A	p.Gln19=	p.Q19=	ENST00000330106	NM_016564.3	19	caG/caA	0	validated		synonymous	
HAO1		inserm.fr	GRCh37	20	7886933	7886933	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000378789.3:c.589G>A	p.Glu197Lys	p.E197K	ENST00000378789	NM_017545.2	197	Gaa/Aaa	0	not done		benign	
CHRNB4		inserm.fr	GRCh37	15	78917377	78917377	+	3_prime_UTR_variant	3'UTR	SNP	C	T	T			CHC892T																					ENST00000261751.3:c.*98G>A		*33*	ENST00000261751	NM_000750.3			0	not done			
CHRNB4		inserm.fr	GRCh37	15	78921442	78921442	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261751.3:c.1205G>A	p.Gly402Asp	p.G402D	ENST00000261751	NM_000750.3	402	gGc/gAc	0	not done		benign	
MTRR		inserm.fr	GRCh37	5	7892840	7892840	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC1751T																					ENST00000264668.2:c.1452C>T	p.Ser484=	p.S484=	ENST00000264668	NM_024010.2	484	agC/agT	0	not done		damaging	
PCSK5		inserm.fr	GRCh37	9	78936496	78936496	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC923T																					ENST00000545128.1:c.3962G>T	p.Gly1321Val	p.G1321V	ENST00000545128	NM_001190482.1	1321	gGg/gTg	0	not done			
MTRR		inserm.fr	GRCh37	5	7896999	7896999	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC796T																					ENST00000264668.2:c.1780C>T	p.Pro594Ser	p.P594S	ENST00000264668	NM_024010.2	594	Cca/Tca	0	validated		possiblydamaging	
CMYA5		inserm.fr	GRCh37	5	79034423	79034423	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC793T									Valid												ENST00000446378.2:c.9835G>T	p.Glu3279Ter	p.E3279*	ENST00000446378	NM_153610.3	3279	Gaa/Taa	0	validated		damaging	
ADAMTS7		inserm.fr	GRCh37	15	79057989	79057989	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC796T																					ENST00000388820.4:c.4264G>A	p.Glu1422Lys	p.E1422K	ENST00000388820	NM_014272.3	1422	Gag/Aag	0	validated		benign	
ADAMTS7		inserm.fr	GRCh37	15	79092660	79092660	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000388820.4:c.330G>A	p.Thr110=	p.T110=	ENST00000388820	NM_014272.3	110	acG/acA	0	not done		synonymous	
AATK		inserm.fr	GRCh37	17	79093270	79093270	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1566T																					ENST00000326724.4:c.3994G>A	p.Ala1332Thr	p.A1332T	ENST00000326724	NM_001080395.2	1332	Gct/Act	0	validated		benign	
NARFL		inserm.fr	GRCh37	16	790976	790976	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2202T																					ENST00000251588.2:c.10C>A	p.Pro4Thr	p.P4T	ENST00000251588	NM_022493.1	4	Ccc/Acc	0	validated		benign	
AZI1		inserm.fr	GRCh37	17	79166184	79166184	+	synonymous_variant	Silent	SNP	C	T	T			CHC2039Tbis																					ENST00000450824.2:c.2556G>A	p.Leu852=	p.L852=	ENST00000450824		852	ctG/ctA	0	validated		synonymous	
NRXN3		inserm.fr	GRCh37	14	79181271	79181271	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000554719.1:c.714C>T	p.Ile238=	p.I238=	ENST00000554719	NM_004796.5	238	atC/atT	0	not done		synonymous	
MORF4L1		inserm.fr	GRCh37	15	79183909	79183909	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1763T																					ENST00000331268.5:c.550G>T	p.Glu184Ter	p.E184*	ENST00000331268	NM_206839.2	184	Gaa/Taa	0	not done		damaging	
MORF4L1		inserm.fr	GRCh37	15	79189355	79189355	+	synonymous_variant	Silent	SNP	C	T	T			CHC1566T																					ENST00000331268.5:c.1035C>T	p.Phe345=	p.F345=	ENST00000331268	NM_206839.2	345	ttC/ttT	0	not done		synonymous	
RNF219		inserm.fr	GRCh37	13	79189973	79189973	+	synonymous_variant	Silent	SNP	G	T	T			CHC1744T																					ENST00000282003.6:c.1923C>A	p.Pro641=	p.P641=	ENST00000282003	NM_024546.3	641	ccC/ccA	0	not done		synonymous	
FRAS1		inserm.fr	GRCh37	4	79203995	79203995	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1137T																					ENST00000264895.6:c.1129G>T	p.Gly377Cys	p.G377C	ENST00000264895	NM_025074.6	377	Ggc/Tgc	0	not done		probablydamaging	
MTX3		inserm.fr	GRCh37	5	79284296	79284296	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000512560.1:c.310G>A	p.Val104Met	p.V104M	ENST00000512560	NM_001167741.1	104	Gtg/Atg	0	not done		possiblydamaging	
PRUNE2		inserm.fr	GRCh37	9	79318346	79318346	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1186T																					ENST00000376718.3:c.8183C>A	p.Pro2728Gln	p.P2728Q	ENST00000376718	NM_015225.2	2728	cCa/cAa	0	not done		probablydamaging	
PRUNE2		inserm.fr	GRCh37	9	79318573	79318573	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000376718.3:c.7956G>A	p.Gly2652=	p.G2652=	ENST00000376718	NM_015225.2	2652	ggG/ggA	0	not done		synonymous	
PRUNE2		inserm.fr	GRCh37	9	79322008	79322008	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1568T																					ENST00000376718.3:c.5182G>A	p.Val1728Ile	p.V1728I	ENST00000376718	NM_015225.2	1728	Gtc/Atc	0	not done		benign	
PRUNE2		inserm.fr	GRCh37	9	79322104	79322104	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000376718.3:c.5086G>A	p.Glu1696Lys	p.E1696K	ENST00000376718	NM_015225.2	1696	Gag/Aag	0	not done		benign	
PRUNE2		inserm.fr	GRCh37	9	79322194	79322194	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB325T																					ENST00000376718.3:c.4996G>A	p.Glu1666Lys	p.E1666K	ENST00000376718	NM_015225.2	1666	Gaa/Aaa	0	validated		probablydamaging	
RASGRF1		inserm.fr	GRCh37	15	79323807	79323807	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000419573.3:c.1197G>A	p.Thr399=	p.T399=	ENST00000419573	NM_002891.4	399	acG/acA	0	not done		synonymous	
FRAS1		inserm.fr	GRCh37	4	79340108	79340108	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2215T																					ENST00000264895.6:c.4431A>T	p.Arg1477Ser	p.R1477S	ENST00000264895	NM_025074.6	1477	agA/agT	0	not done		possiblydamaging	
RASGRF1		inserm.fr	GRCh37	15	79356848	79356848	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC736T									Valid												ENST00000419573.3:c.297C>A	p.Phe99Leu	p.F99L	ENST00000419573	NM_002891.4	99	ttC/ttA	0	validated		possiblydamaging	
FLJ22184		inserm.fr	GRCh37	19	7937334	7937334	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM735T																					ENST00000539422.1:c.796C>A	p.Pro266Thr	p.P266T	ENST00000539422	NM_001190467.1	266	Cct/Act	0	validated		synonymous	
FRAS1		inserm.fr	GRCh37	4	79385664	79385664	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1751T																					ENST00000264895.6:c.6956G>T	p.Gly2319Val	p.G2319V	ENST00000264895	NM_025074.6	2319	gGa/gTa	0	not done		probablydamaging	
ELTD1		inserm.fr	GRCh37	1	79403960	79403960	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC097T																					ENST00000370742.3:c.401G>A	p.Arg134Lys	p.R134K	ENST00000370742	NM_022159.3	134	aGa/aAa	0	not done		benign	
BAHCC1		inserm.fr	GRCh37	17	79409090	79409090	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000307745.7:c.715C>T	p.Pro239Ser	p.P239S	ENST00000307745		239	Cca/Tca	0	not done		benign	
BAHCC1		inserm.fr	GRCh37	17	79409317	79409317	+	synonymous_variant	Silent	SNP	G	T	T			CHC2103T																					ENST00000307745.7:c.942G>T	p.Val314=	p.V314=	ENST00000307745		314	gtG/gtT	0	not done		synonymous	
BAHCC1		inserm.fr	GRCh37	17	79409914	79409914	+	synonymous_variant	Silent	SNP	C	T	T			BCM397T																					ENST00000307745.7:c.1539C>T	p.Gly513=	p.G513=	ENST00000307745		513	ggC/ggT	0	validated		synonymous	
BAHCC1		inserm.fr	GRCh37	17	79412154	79412154	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM423T																					ENST00000307745.7:c.2785C>T	p.Arg929Trp	p.R929W	ENST00000307745		929	Cgg/Tgg	0	validated		probablydamaging	
PRUNE2		inserm.fr	GRCh37	9	79438643	79438643	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000376718.3:c.662-1G>A		p.X221_splice	ENST00000376718	NM_015225.2			0	not done		damaging	
SERINC5		inserm.fr	GRCh37	5	79442005	79442005	+	synonymous_variant	Silent	SNP	C	T	T			CHC1704T																					ENST00000512721.1:c.1146G>A	p.Glu382=	p.E382=	ENST00000512721	NM_001174072.1	382	gaG/gaA	0	not done		synonymous	
NRXN3		inserm.fr	GRCh37	14	79454398	79454398	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000554719.1:c.2057C>T	p.Ala686Val	p.A686V	ENST00000554719	NM_004796.5	686	gCc/gTc	0	not done		possiblydamaging	
PTPRM		inserm.fr	GRCh37	18	7949273	7949273	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC327T																					ENST00000580170.1:c.758G>T	p.Arg253Leu	p.R253L	ENST00000580170	NM_001105244.1	253	cGa/cTa	0	validated		benign	
ANXA3		inserm.fr	GRCh37	4	79494338	79494338	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB151T																					ENST00000264908.6:c.20G>T	p.Gly7Val	p.G7V	ENST00000264908	NM_005139.2	7	gGa/gTa	0	validated		probablydamaging	
OR10A6		inserm.fr	GRCh37	11	7949762	7949762	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000309838.2:c.448G>A	p.Ala150Thr	p.A150T	ENST00000309838	NM_001004461.1	150	Gcc/Acc	0	not done		benign	
C17orf70		inserm.fr	GRCh37	17	79512800	79512800	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000327787.8:c.2282G>A	p.Gly761Asp	p.G761D	ENST00000327787		761	gGc/gAc	0	not done		probablydamaging	
ANXA3		inserm.fr	GRCh37	4	79517027	79517027	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC469T																					ENST00000264908.6:c.620C>T	p.Pro207Leu	p.P207L	ENST00000264908	NM_005139.2	207	cCt/cTt	0	validated		benign	
C17orf70		inserm.fr	GRCh37	17	79519203	79519203	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000327787.8:c.154G>A	p.Gly52Arg	p.G52R	ENST00000327787		52	Ggg/Agg	0	not done		benign	
NPLOC4		inserm.fr	GRCh37	17	79532607	79532607	+	synonymous_variant	Silent	SNP	G	T	T			CHC1539T																					ENST00000331134.6:c.1593C>A	p.Ala531=	p.A531=	ENST00000331134	NM_017921.2	531	gcC/gcA	0	validated		synonymous	
DLG5		inserm.fr	GRCh37	10	79552290	79552290	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372391.2:c.5668G>A	p.Gly1890Arg	p.G1890R	ENST00000372391	NM_004747.3	1890	Gga/Aga	0	not done		probablydamaging	
NPLOC4		inserm.fr	GRCh37	17	79555969	79555969	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000331134.6:c.1281+1G>A		p.X427_splice	ENST00000331134	NM_017921.2			0	not done		damaging	
DLG5		inserm.fr	GRCh37	10	79572069	79572069	+	synonymous_variant	Silent	SNP	G	T	T			BCB151T																					ENST00000372391.2:c.4092C>A	p.Ile1364=	p.I1364=	ENST00000372391	NM_004747.3	1364	atC/atA	0	validated		synonymous	
TMED3		inserm.fr	GRCh37	15	79603662	79603662	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000299705.5:c.71C>T	p.Pro24Leu	p.P24L	ENST00000299705	NM_007364.2	24	cCc/cTc	0	not done		benign	
ZC2HC1A		inserm.fr	GRCh37	8	79627534	79627534	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1725T																					ENST00000263849.4:c.783A>T	p.Arg261Ser	p.R261S	ENST00000263849	NM_016010.2	261	agA/agT	0	not done		possiblydamaging	
OXLD1		inserm.fr	GRCh37	17	79632330	79632330	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000374741.3:c.345G>A	p.Gly115=	p.G115=	ENST00000374741	NM_001039842.1	115	ggG/ggA	0	not done		synonymous	
LRRC8E		inserm.fr	GRCh37	19	7964183	7964183	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000306708.6:c.776C>T	p.Thr259Met	p.T259M	ENST00000306708	NM_025061.4	259	aCg/aTg	0	validated		possiblydamaging	
SLC2A14		inserm.fr	GRCh37	12	7967014	7967014	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000543909.1:c.1461G>A	p.Arg487=	p.R487=	ENST00000543909	NM_001286233.1	487	cgG/cgA	0	not done		synonymous	
SLC25A10		inserm.fr	GRCh37	17	79682052	79682052	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1566T																					ENST00000331531.5:c.163G>T	p.Asp55Tyr	p.D55Y	ENST00000331531	NM_001270888.1	55	Gac/Tac	0	not done		possiblydamaging	
MAP2K7		inserm.fr	GRCh37	19	7968861	7968861	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB307T									Valid												ENST00000397979.3:c.32C>T	p.Ser11Phe	p.S11F	ENST00000397979	NM_145185.2	11	tCc/tTc	0	validated		probablydamaging	
FAM46D		inserm.fr	GRCh37	X	79698174	79698174	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1052T									Valid												ENST00000538312.1:c.136G>T	p.Val46Phe	p.V46F	ENST00000538312	NM_001170574.1	46	Gtt/Ttt	0	validated		possiblydamaging	
FAM46D		inserm.fr	GRCh37	X	79698563	79698563	+	synonymous_variant	Silent	SNP	C	T	T			CHC429T																					ENST00000538312.1:c.525C>T	p.Ser175=	p.S175=	ENST00000538312	NM_001170574.1	175	tcC/tcT	0	validated		synonymous	
FAM46D		inserm.fr	GRCh37	X	79699173	79699173	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB111T																					ENST00000538312.1:c.1135C>T	p.Pro379Ser	p.P379S	ENST00000538312	NM_001170574.1	379	Cca/Tca	0	validated		probablydamaging	
ZFYVE16		inserm.fr	GRCh37	5	79734036	79734036	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1211T																					ENST00000338008.5:c.1532A>T	p.Gln511Leu	p.Q511L	ENST00000338008	NM_014733.3	511	cAa/cTa	0	not done		possiblydamaging	
KIAA1024		inserm.fr	GRCh37	15	79748625	79748625	+	synonymous_variant	Silent	SNP	C	T	T			BCM375T																					ENST00000305428.3:c.136C>T	p.Leu46=	p.L46=	ENST00000305428	NM_015206.2	46	Ctg/Ttg	0	validated		synonymous	
POLR3A		inserm.fr	GRCh37	10	79762052	79762052	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000372371.3:c.2262G>A	p.Lys754=	p.K754=	ENST00000372371	NM_007055.3	754	aaG/aaA	0	not done		synonymous	
GCGR		inserm.fr	GRCh37	17	79770740	79770740	+	synonymous_variant	Silent	SNP	C	T	T			BCB307T																					ENST00000400723.3:c.1095C>T	p.Phe365=	p.F365=	ENST00000400723	NM_000160.3	365	ttC/ttT	0	validated		synonymous	
PPP1R27		inserm.fr	GRCh37	17	79792783	79792783	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2112T																					ENST00000330261.4:c.47G>A	p.Arg16Gln	p.R16Q	ENST00000330261	NM_001007533.3	16	cGg/cAg	0	not done		benign	
ARHGDIA		inserm.fr	GRCh37	17	79827750	79827750	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000269321.7:c.57G>A	p.Glu19=	p.E19=	ENST00000269321	NM_001185078.1	19	gaG/gaA	0	not done		synonymous	
PYCR1		inserm.fr	GRCh37	17	79894007	79894007	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1211T																					ENST00000329875.8:c.130G>A	p.Ala44Thr	p.A44T	ENST00000329875	NM_006907.2	44	Gct/Act	0	not done		benign	
MYADML2		inserm.fr	GRCh37	17	79898957	79898957	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000409745.2:c.661G>A	p.Gly221Arg	p.G221R	ENST00000409745	NM_001145113.2	221	Ggg/Agg	0	not done		possiblydamaging	
VPS13A		inserm.fr	GRCh37	9	79908381	79908381	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000360280.3:c.3464G>T	p.Cys1155Phe	p.C1155F	ENST00000360280	NM_033305.2	1155	tGc/tTc	0	not done		possiblydamaging	
NOTUM		inserm.fr	GRCh37	17	79913335	79913335	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000409678.3:c.1074G>A	p.Glu358=	p.E358=	ENST00000409678	NM_178493.5	358	gaG/gaA	0	not done		synonymous	
TNFRSF9		inserm.fr	GRCh37	1	7993346	7993346	+	synonymous_variant	Silent	SNP	C	T	T			CHC2358T																					ENST00000377507.3:c.555G>A	p.Pro185=	p.P185=	ENST00000377507	NM_001561.5	185	ccG/ccA	0	validated		synonymous	
ASPSCR1		inserm.fr	GRCh37	17	79953921	79953921	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000306729.7:c.486C>T	p.Thr162=	p.T162=	ENST00000306729	NM_001251888.1	162	acC/acT	0	validated		synonymous	
ASPSCR1		inserm.fr	GRCh37	17	79954390	79954390	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC320T																					ENST00000306729.7:c.601C>T	p.Pro201Ser	p.P201S	ENST00000306729	NM_001251888.1	201	Ccc/Tcc	0	validated		benign	
VPS13A		inserm.fr	GRCh37	9	79954454	79954454	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000360280.3:c.6401C>T	p.Thr2134Ile	p.T2134I	ENST00000360280	NM_033305.2	2134	aCt/aTt	0	not done		benign	
LRRC45		inserm.fr	GRCh37	17	79982951	79982951	+	synonymous_variant	Silent	SNP	C	T	T			CHC1052T																					ENST00000306688.3:c.429C>T	p.Asn143=	p.N143=	ENST00000306688	NM_144999.2	143	aaC/aaT	0	validated		synonymous	
DCXR		inserm.fr	GRCh37	17	79993845	79993845	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000306869.2:c.726G>A	p.Trp242Ter	p.W242*	ENST00000306869	NM_016286.3	242	tgG/tgA	0	not done		damaging	
FASN		inserm.fr	GRCh37	17	80039973	80039973	+	synonymous_variant	Silent	SNP	C	T	T			CHC1741T																					ENST00000306749.2:c.6075G>A	p.Gly2025=	p.G2025=	ENST00000306749	NM_004104.4	2025	ggG/ggA	0	not done		synonymous	
GNA14		inserm.fr	GRCh37	9	80040627	80040627	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM695T																					ENST00000341700.6:c.728G>A	p.Arg243His	p.R243H	ENST00000341700	NM_004297.3	243	cGc/cAc	0	validated		probablydamaging	
FASN		inserm.fr	GRCh37	17	80043633	80043633	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000306749.2:c.3847G>A	p.Ala1283Thr	p.A1283T	ENST00000306749	NM_004104.4	1283	Gcc/Acc	0	not done		benign	
PAWR		inserm.fr	GRCh37	12	80083977	80083977	+	synonymous_variant	Silent	SNP	G	T	T			CHC609T																					ENST00000328827.4:c.48C>A	p.Thr16=	p.T16=	ENST00000328827	NM_002583.2	16	acC/acA	0	validated		synonymous	
NDFIP2		inserm.fr	GRCh37	13	80094985	80094985	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1028T																					ENST00000218652.7:c.362A>T	p.Glu121Val	p.E121V	ENST00000218652	NM_001161407.1	121	gAg/gTg	0	not done		possiblydamaging	
EIF3F		inserm.fr	GRCh37	11	8014548	8014548	+	synonymous_variant	Silent	SNP	C	T	T			BCM783T																					ENST00000533626.1:c.630C>T	p.Arg210=	p.R210=	ENST00000533626		210	cgC/cgT	0	validated		synonymous	
MSH3		inserm.fr	GRCh37	5	80171673	80171673	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC197T																					ENST00000265081.6:c.3406C>T	p.Leu1136Phe	p.L1136F	ENST00000265081	NM_002439.4	1136	Ctt/Ttt	0	validated		benign	
LCA5		inserm.fr	GRCh37	6	80196948	80196948	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000392959.1:c.1867G>A	p.Asp623Asn	p.D623N	ENST00000392959	NM_181714.3	623	Gac/Aac	0	not done		possiblydamaging	
LCA5		inserm.fr	GRCh37	6	80197138	80197138	+	synonymous_variant	Silent	SNP	C	T	T			BCM501T																					ENST00000392959.1:c.1677G>A	p.Ser559=	p.S559=	ENST00000392959	NM_181714.3	559	tcG/tcA	0	validated		synonymous	
ALOXE3		inserm.fr	GRCh37	17	8021362	8021362	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000318227.3:c.343G>A	p.Gly115Ser	p.G115S	ENST00000318227	NM_001165960.1	115	Ggc/Agc	0	not done			
RASGRF2		inserm.fr	GRCh37	5	80256755	80256755	+	synonymous_variant	Silent	SNP	C	T	T			CHC1629T																					ENST00000265080.4:c.198C>T	p.Tyr66=	p.Y66=	ENST00000265080	NM_006909.2	66	taC/taT	0	not done		synonymous	
PPP1R12A		inserm.fr	GRCh37	12	80266589	80266589	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC1545T																					ENST00000450142.2:c.367G>A	p.Glu123Lys	p.E123K	ENST00000450142	NM_002480.2	123	Gag/Aag	0	not done		possiblydamaging	
NRXN3		inserm.fr	GRCh37	14	80327483	80327483	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000554719.1:c.2885-523C>T		*962*	ENST00000554719	NM_004796.5			0	not done			
GK2		inserm.fr	GRCh37	4	80328076	80328076	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000358842.3:c.1279G>A	p.Gly427Arg	p.G427R	ENST00000358842	NM_033214.2	427	Gga/Aga	0	not done		benign	
NRXN3		inserm.fr	GRCh37	14	80328232	80328232	+	synonymous_variant	Silent	SNP	C	T	T			CHC437T																					ENST00000554719.1:c.3111C>T	p.Leu1037=	p.L1037=	ENST00000554719	NM_004796.5	1037	ctC/ctT	0	not done		synonymous	
OGFOD3		inserm.fr	GRCh37	17	80369385	80369385	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000329197.5:c.326G>A	p.Gly109Asp	p.G109D	ENST00000329197		109	gGc/gAc	0	not done		probablydamaging	
SH3BGRL2		inserm.fr	GRCh37	6	80383441	80383441	+	synonymous_variant	Silent	SNP	C	T	T			CHC1207T																					ENST00000369838.4:c.156C>T	p.Asn52=	p.N52=	ENST00000369838	NM_031469.2	52	aaC/aaT	0	not done		synonymous	
HEXDC		inserm.fr	GRCh37	17	80399717	80399717	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1741T																					ENST00000337014.6:c.1294A>T	p.Ser432Cys	p.S432C	ENST00000337014	NM_173620.2	432	Agc/Tgc	0	not done		probablydamaging	
PIDD		inserm.fr	GRCh37	11	804111	804111	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T									Valid												ENST00000347755.5:c.278G>A	p.Arg93His	p.R93H	ENST00000347755	NM_145886.3	93	cGc/cAc	0	validated		possiblydamaging	
PIDD		inserm.fr	GRCh37	11	804252	804252	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000347755.5:c.137G>A	p.Gly46Asp	p.G46D	ENST00000347755	NM_145886.3	46	gGc/gAc	0	not done		probablydamaging	
PIDD		inserm.fr	GRCh37	11	804268	804268	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000347755.5:c.121G>A	p.Asp41Asn	p.D41N	ENST00000347755	NM_145886.3	41	Gac/Aac	0	not done		probablydamaging	
FAH		inserm.fr	GRCh37	15	80467383	80467383	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2029T																					ENST00000407106.1:c.863G>T	p.Cys288Phe	p.C288F	ENST00000407106		288	tGc/tTc	0	not done		benign	
PER1		inserm.fr	GRCh37	17	8048034	8048034	+	intron_variant	Intron	SNP	C	T	T			CHC892T																					ENST00000317276.4:c.2461+35G>A		*821*	ENST00000317276	NM_002616.2			0	not done		synonymous	
PER1		inserm.fr	GRCh37	17	8052577	8052577	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000317276.4:c.905G>A	p.Arg302Lys	p.R302K	ENST00000317276	NM_002616.2	302	aGa/aAa	0	not done		benign	
LRRTM1		inserm.fr	GRCh37	2	80529977	80529977	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000295057.3:c.968G>A	p.Cys323Tyr	p.C323Y	ENST00000295057	NM_178839.4	323	tGt/tAt	0	not done		probablydamaging	
LRRTM1		inserm.fr	GRCh37	2	80530291	80530291	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1035T									Valid												ENST00000295057.3:c.654C>A	p.His218Gln	p.H218Q	ENST00000295057	NM_178839.4	218	caC/caA	0	validated		probablydamaging	
LRRTM1		inserm.fr	GRCh37	2	80530867	80530867	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000295057.3:c.78G>A	p.Gly26=	p.G26=	ENST00000295057	NM_178839.4	26	ggG/ggA	0	not done		synonymous	
LRRTM1		inserm.fr	GRCh37	2	80530890	80530890	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000295057.3:c.55G>A	p.Gly19Arg	p.G19R	ENST00000295057	NM_178839.4	19	Ggg/Agg	0	not done		probablydamaging	
SEMA3C		inserm.fr	GRCh37	7	80546084	80546084	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1629T																					ENST00000265361.3:c.14C>A	p.Thr5Lys	p.T5K	ENST00000265361	NM_006379.3	5	aCa/aAa	0	not done		benign	
OTOGL		inserm.fr	GRCh37	12	80605760	80605760	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2206T																					ENST00000458043.2:c.124G>T	p.Ala42Ser	p.A42S	ENST00000458043	NM_173591.3	42	Gct/Tct	0	not done			
OTOGL		inserm.fr	GRCh37	12	80648908	80648908	+	synonymous_variant	Silent	SNP	G	T	T			CHC892T																					ENST00000458043.2:c.1503G>T	p.Val501=	p.V501=	ENST00000458043	NM_173591.3	501	gtG/gtT	0	not done		synonymous	
DIO2		inserm.fr	GRCh37	14	80669478	80669478	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1183T																					ENST00000555750.1:c.484G>A	p.Val162Ile	p.V162I	ENST00000555750	NM_001007023.3	162	Gtc/Atc	0	not done		probablydamaging	
DIO2		inserm.fr	GRCh37	14	80677732	80677732	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC912T									Valid												ENST00000555750.1:c.84T>A	p.Tyr28Ter	p.Y28*	ENST00000555750	NM_001007023.3	28	taT/taA	0	validated		damaging	
OTOGL		inserm.fr	GRCh37	12	80729743	80729743	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000458043.2:c.4396C>T	p.Pro1466Ser	p.P1466S	ENST00000458043	NM_173591.3	1466	Cct/Tct	0	not done		damaging	
TTK		inserm.fr	GRCh37	6	80749469	80749469	+	synonymous_variant	Silent	SNP	C	T	T			CHC361TA																					ENST00000369798.2:c.2187C>T	p.Tyr729=	p.Y729=	ENST00000369798	NM_003318.4	729	taC/taT	0	validated		synonymous	
C12orf64		inserm.fr	GRCh37	12	80749557	80749557	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC051T																					ENST00000458043.2:c.5608A>T	p.Ile1870Phe	p.I1870F	ENST00000458043	NM_173591.3	1870	Att/Ttt	0	validated			
SLC2A3		inserm.fr	GRCh37	12	8075579	8075579	+	synonymous_variant	Silent	SNP	G	T	T			BCM397T																					ENST00000075120.7:c.1110C>A	p.Ile370=	p.I370=	ENST00000075120	NM_006931.2	370	atC/atA	0	validated		synonymous	
CTNNA2		inserm.fr	GRCh37	2	80782912	80782912	+	synonymous_variant	Silent	SNP	C	T	T			CHC1741T																					ENST00000466387.1:c.1635C>T	p.Gly545=	p.G545=	ENST00000466387		545	ggC/ggT	0	not done		synonymous	
CTNNA2		inserm.fr	GRCh37	2	80816470	80816470	+	synonymous_variant	Silent	SNP	A	T	T			CHC306T																					ENST00000466387.1:c.2049A>T	p.Ile683=	p.I683=	ENST00000466387		683	atA/atT	0	validated		synonymous	
SLC2A3		inserm.fr	GRCh37	12	8083194	8083194	+	synonymous_variant	Silent	SNP	C	T	T			CHC2128T																					ENST00000075120.7:c.555G>A	p.Pro185=	p.P185=	ENST00000075120	NM_006931.2	185	ccG/ccA	0	not done		synonymous	
CEP78		inserm.fr	GRCh37	9	80851408	80851408	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM337T																					ENST00000376597.4:c.142G>T	p.Asp48Tyr	p.D48Y	ENST00000376597	NM_001098802.1	48	Gac/Tac	0	validated		probablydamaging	
CEP78		inserm.fr	GRCh37	9	80851423	80851423	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000376597.4:c.157G>T	p.Val53Leu	p.V53L	ENST00000376597	NM_001098802.1	53	Gtg/Ttg	0	not done		benign	
ABLIM2		inserm.fr	GRCh37	4	8089993	8089993	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000447017.2:c.357G>A	p.Gly119=	p.G119=	ENST00000447017	NM_001130083.1	119	ggG/ggA	0	not done		synonymous	
B3GNTL1		inserm.fr	GRCh37	17	80923535	80923535	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000320865.3:c.592G>A	p.Gly198Arg	p.G198R	ENST00000320865	NM_001009905.1	198	Gga/Aga	0	not done		benign	
ANTXR2		inserm.fr	GRCh37	4	80929717	80929717	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000307333.7:c.999G>A	p.Gly333=	p.G333=	ENST00000307333	NM_001145794.1	333	ggG/ggA	0	not done		synonymous	
PTPRQ		inserm.fr	GRCh37	12	81013192	81013192	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1594T																					ENST00000266688.5:c.5248C>T	p.Pro1750Ser	p.P1750S	ENST00000266688		1750	Cct/Tct	0	not done		probablydamaging	
MYF5		inserm.fr	GRCh37	12	81110966	81110966	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000228644.3:c.124C>T	p.His42Tyr	p.H42Y	ENST00000228644	NM_005593.2	42	Cac/Tac	0	not done		possiblydamaging	
PRDM8		inserm.fr	GRCh37	4	81121350	81121350	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM545T																					ENST00000339711.4:c.116C>T	p.Ala39Val	p.A39V	ENST00000339711	NM_020226.3	39	gCt/gTt	0	validated		probablydamaging	
PRDM8		inserm.fr	GRCh37	4	81123443	81123443	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000339711.4:c.827G>T	p.Ser276Ile	p.S276I	ENST00000339711	NM_020226.3	276	aGc/aTc	0	not done		possiblydamaging	
RPLP2		inserm.fr	GRCh37	11	811609	811609	+	synonymous_variant	Silent	SNP	C	T	T			CHC1598T																					ENST00000321153.4:c.136C>T	p.Leu46=	p.L46=	ENST00000321153	NM_001004.3	46	Ctg/Ttg	0	not done		synonymous	
PKD1L2		inserm.fr	GRCh37	16	81198279	81198279	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000525539.1:c.3315G>A	p.Leu1105=	p.L1105=	ENST00000525539	NM_052892.3	1105	ctG/ctA	0	not done		synonymous	
PKD1L2		inserm.fr	GRCh37	16	81208356	81208356	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC879T																					ENST00000527937.1:c.515G>A	p.Gly172Glu	p.G172E	ENST00000527937		172	gGa/gAa	0	not done		benign	
CCL25		inserm.fr	GRCh37	19	8121335	8121335	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1040T																					ENST00000390669.3:c.277C>T	p.Arg93Ter	p.R93*	ENST00000390669		93	Cga/Tga	0	not done		damaging	
PKD1L2		inserm.fr	GRCh37	16	81236300	81236300	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000337114.4:c.948G>A	p.Gly316=	p.G316=	ENST00000337114	NM_001076780.1	316	ggG/ggA	0	not done		synonymous	
KIAA1199		inserm.fr	GRCh37	15	81241173	81241173	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000394685.3:c.3994C>T	p.Arg1332Trp	p.R1332W	ENST00000394685		1332	Cgg/Tgg	0	not done		probablydamaging	
FBN3		inserm.fr	GRCh37	19	8130927	8130927	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000600128.1:c.8306G>A	p.Gly2769Glu	p.G2769E	ENST00000600128		2769	gGg/gAg	0	not done		benign	
HGF		inserm.fr	GRCh37	7	81334788	81334788	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000222390.5:c.1928G>A	p.Ser643Asn	p.S643N	ENST00000222390	NM_000601.4	643	aGc/aAc	0	not done		benign	
CTC1		inserm.fr	GRCh37	17	8135257	8135257	+	synonymous_variant	Silent	SNP	C	T	T			CHC1712T																					ENST00000315684.8:c.2349G>A	p.Leu783=	p.L783=	ENST00000315684	NM_025099.5	783	ctG/ctA	0	not done		synonymous	
FBN3		inserm.fr	GRCh37	19	8137069	8137069	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM617T																					ENST00000600128.1:c.7951G>A	p.Gly2651Ser	p.G2651S	ENST00000600128		2651	Ggc/Agc	0	validated		possiblydamaging	
SFTPA1		inserm.fr	GRCh37	10	81373705	81373705	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000419470.2:c.628C>T	p.Pro210Ser	p.P210S	ENST00000419470		210	Cct/Tct	0	not done		benign	
SFTPA1		inserm.fr	GRCh37	10	81373751	81373751	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC884T									Valid												ENST00000419470.2:c.674A>T	p.Asn225Ile	p.N225I	ENST00000419470		225	aAc/aTc	0	validated		probablydamaging	
HGF		inserm.fr	GRCh37	7	81374367	81374367	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2115T																					ENST00000222390.5:c.695G>A	p.Cys232Tyr	p.C232Y	ENST00000222390	NM_000601.4	232	tGt/tAt	0	not done		probablydamaging	
HGF		inserm.fr	GRCh37	7	81392189	81392189	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC1741T																					ENST00000222390.5:c.89-1G>A		p.X30_splice	ENST00000222390	NM_000601.4			0	not done		damaging	
MSLN		inserm.fr	GRCh37	16	814930	814930	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC892T																					ENST00000382862.3:c.404A>T	p.Gln135Leu	p.Q135L	ENST00000382862	NM_013404.4	135	cAg/cTg	0	not done		benign	
FBN3		inserm.fr	GRCh37	19	8150374	8150374	+	synonymous_variant	Silent	SNP	G	T	T			CHC1192T																					ENST00000600128.1:c.6960C>A	p.Thr2320=	p.T2320=	ENST00000600128		2320	acC/acA	0	validated		synonymous	
CTC1		inserm.fr	GRCh37	17	8151339	8151339	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000315684.8:c.16G>A	p.Ala6Thr	p.A6T	ENST00000315684	NM_025099.5	6	Gcc/Acc	0	not done		possiblydamaging	
CTC1		inserm.fr	GRCh37	17	8151350	8151350	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB157T																					ENST00000315684.8:c.5C>A	p.Ala2Glu	p.A2E	ENST00000315684	NM_025099.5	2	gCg/gAg	0	validated		probablydamaging	
MSLN		inserm.fr	GRCh37	16	815274	815274	+	synonymous_variant	Silent	SNP	G	T	T			CHC1085T																					ENST00000382862.3:c.675G>T	p.Ala225=	p.A225=	ENST00000382862	NM_013404.4	225	gcG/gcT	0	validated		synonymous	
FBN3		inserm.fr	GRCh37	19	8154484	8154484	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000600128.1:c.6321C>A	p.Phe2107Leu	p.F2107L	ENST00000600128		2107	ttC/ttA	0	not done		probablydamaging	
CACNA2D1		inserm.fr	GRCh37	7	81579808	81579808	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000356860.3:c.3176G>A	p.Cys1059Tyr	p.C1059Y	ENST00000356860	NM_000722.2	1059	tGt/tAt	0	not done		probablydamaging	
TSHR		inserm.fr	GRCh37	14	81606098	81606098	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000298171.2:c.768C>T	p.Asn256=	p.N256=	ENST00000298171	NM_000369.2	256	aaC/aaT	0	not done		synonymous	
SFTPD		inserm.fr	GRCh37	10	81697907	81697907	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1010T																					ENST00000372292.3:c.829G>A	p.Ala277Thr	p.A277T	ENST00000372292	NM_003019.4	277	Gca/Aca	0	not done		probablydamaging	
CMIP		inserm.fr	GRCh37	16	81703846	81703846	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC794T									Valid												ENST00000537098.3:c.925C>T	p.Gln309Ter	p.Q309*	ENST00000537098	NM_198390.2	309	Cag/Tag	0	validated		damaging	
PPFIA2		inserm.fr	GRCh37	12	81738463	81738463	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC155T																					ENST00000549396.1:c.2242C>A	p.Leu748Met	p.L748M	ENST00000549396	NM_003625.3	748	Ctg/Atg	0	validated		probablydamaging	
STON2		inserm.fr	GRCh37	14	81743997	81743997	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM275T																					ENST00000555447.1:c.1658C>A	p.Pro553Gln	p.P553Q	ENST00000555447	NM_001256430.1	553	cCa/cAa	0	validated		probablydamaging	
CACNA2D1		inserm.fr	GRCh37	7	81765968	81765968	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM339T																					ENST00000356860.3:c.379G>A	p.Ala127Thr	p.A127T	ENST00000356860	NM_000722.2	127	Gca/Aca	0	validated		probablydamaging	
FBN3		inserm.fr	GRCh37	19	8188791	8188791	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000600128.1:c.2833G>A	p.Ala945Thr	p.A945T	ENST00000600128		945	Gcc/Acc	0	not done		benign	
RIC3		inserm.fr	GRCh37	11	8190456	8190456	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1746T																					ENST00000309737.6:c.81C>A	p.Phe27Leu	p.F27L	ENST00000309737		27	ttC/ttA	0	not done		probablydamaging	
RIC3		inserm.fr	GRCh37	11	8190491	8190491	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1756T																					ENST00000309737.6:c.46G>A	p.Val16Ile	p.V16I	ENST00000309737		16	Gtc/Atc	0	not done		probablydamaging	
ANXA11		inserm.fr	GRCh37	10	81923290	81923290	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC1192T																					ENST00000438331.1:c.1029G>A	p.Gln343=	p.Q343=	ENST00000438331	NM_145869.1	343	caG/caA	0	not done		possiblydamaging	
FBN3		inserm.fr	GRCh37	19	8193949	8193949	+	synonymous_variant	Silent	SNP	G	T	T			CHC1712T																					ENST00000600128.1:c.2259C>A	p.Pro753=	p.P753=	ENST00000600128		753	ccC/ccA	0	not done		synonymous	
PLCG2		inserm.fr	GRCh37	16	81953229	81953229	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1744T																					ENST00000359376.3:c.2195G>T	p.Arg732Leu	p.R732L	ENST00000359376	NM_002661.3	732	cGc/cTc	0	not done		probablydamaging	
MSLNL		inserm.fr	GRCh37	16	819557	819557	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000293892.3:c.3033G>A	p.Trp1011Ter	p.W1011*	ENST00000293892		1011	tgG/tgA	0	not done		damaging	
MAT1A		inserm.fr	GRCh37	10	82039972	82039972	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372213.3:c.506G>A	p.Arg169His	p.R169H	ENST00000372213	NM_000429.2	169	cGc/cAc	0	not done		possiblydamaging	
PRKG2		inserm.fr	GRCh37	4	82064034	82064034	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000395578.1:c.1321G>A	p.Val441Met	p.V441M	ENST00000395578		441	Gtg/Atg	0	not done		possiblydamaging	
HSD17B2		inserm.fr	GRCh37	16	82069094	82069094	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2362T																					ENST00000199936.4:c.65C>T	p.Thr22Ile	p.T22I	ENST00000199936	NM_002153.2	22	aCa/aTa	0	validated		benign	
PRKG2		inserm.fr	GRCh37	4	82095999	82095999	+	synonymous_variant	Silent	SNP	C	T	T			CHC896T																					ENST00000395578.1:c.576G>A	p.Gly192=	p.G192=	ENST00000395578		192	ggG/ggA	0	not done		synonymous	
FBN3		inserm.fr	GRCh37	19	8211097	8211097	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000600128.1:c.263G>A	p.Arg88His	p.R88H	ENST00000600128		88	cGc/cAc	0	not done		benign	
TLE4		inserm.fr	GRCh37	9	82323108	82323108	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1708T																					ENST00000376552.2:c.1012A>T	p.Asn338Tyr	p.N338Y	ENST00000376552	NM_007005.3	338	Aac/Tac	0	not done		benign	
MEX3B		inserm.fr	GRCh37	15	82336175	82336175	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000329713.4:c.1036G>A	p.Gly346Arg	p.G346R	ENST00000329713	NM_032246.4	346	Gga/Aga	0	not done		benign	
FABP9		inserm.fr	GRCh37	8	82371469	82371469	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000379071.2:c.177G>A	p.Gln59=	p.Q59=	ENST00000379071	NM_001080526.1	59	caG/caA	0	not done		synonymous	
SH3TC1		inserm.fr	GRCh37	4	8242640	8242640	+	synonymous_variant	Silent	SNP	C	T	T			CHC1626T																					ENST00000245105.3:c.3969C>T	p.Leu1323=	p.L1323=	ENST00000245105	NM_018986.3	1323	ctC/ctT	0	not done		synonymous	
MSLNL		inserm.fr	GRCh37	16	824290	824290	+	synonymous_variant	Silent	SNP	C	T	T			BCM695T																					ENST00000293892.3:c.1866G>A	p.Ser622=	p.S622=	ENST00000293892		622	tcG/tcA	0	validated		synonymous	
PCLO		inserm.fr	GRCh37	7	82453682	82453682	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			BCM567T																					ENST00000333891.9:c.14466G>A	p.Trp4822Ter	p.W4822*	ENST00000333891	NM_033026.5	4822	tgG/tgA	0	validated		damaging	
LPHN2		inserm.fr	GRCh37	1	82456404	82456404	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2029T																					ENST00000319517.6:c.3787C>T	p.His1263Tyr	p.H1263Y	ENST00000319517	NM_012302.2	1263	Cat/Tat	0	not done		possiblydamaging	
PCLO		inserm.fr	GRCh37	7	82474664	82474664	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1594T																					ENST00000333891.9:c.13969G>A	p.Ala4657Thr	p.A4657T	ENST00000333891	NM_033026.5	4657	Gca/Aca	0	not done		probablydamaging	
MSLNL		inserm.fr	GRCh37	16	824837	824837	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC1207T																					ENST00000293892.3:c.1735G>A	p.Gly579Arg	p.G579R	ENST00000293892		579	Ggg/Agg	0	validated		damaging	
PCLO		inserm.fr	GRCh37	7	82545940	82545940	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1715T																					ENST00000333891.9:c.11362G>A	p.Asp3788Asn	p.D3788N	ENST00000333891	NM_033026.5	3788	Gat/Aat	0	not done		probablydamaging	
PCLO		inserm.fr	GRCh37	7	82546131	82546131	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1756T																					ENST00000333891.9:c.11171T>A	p.Leu3724Gln	p.L3724Q	ENST00000333891	NM_033026.5	3724	cTg/cAg	0	not done		probablydamaging	
PRCP		inserm.fr	GRCh37	11	82561072	82561072	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC218T																					ENST00000393399.2:c.698T>A	p.Leu233Ter	p.L233*	ENST00000393399	NM_199418.2	233	tTa/tAa	0	validated		damaging	
IMPA1		inserm.fr	GRCh37	8	82572771	82572771	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000449740.2:c.875G>A	p.Gly292Asp	p.G292D	ENST00000449740	NM_001144878.1	292	gGc/gAc	0	not done		probablydamaging	
FAM154B		inserm.fr	GRCh37	15	82574570	82574570	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM683T																					ENST00000339465.5:c.364G>T	p.Val122Phe	p.V122F	ENST00000339465	NM_001008226.1	122	Gtt/Ttt	0	validated		benign	
PCLO		inserm.fr	GRCh37	7	82579010	82579010	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC306T																					ENST00000333891.9:c.10894C>A	p.Pro3632Thr	p.P3632T	ENST00000333891	NM_033026.5	3632	Cca/Aca	0	validated		probablydamaging	
PCLO		inserm.fr	GRCh37	7	82579310	82579310	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000333891.9:c.10594G>A	p.Gly3532Arg	p.G3532R	ENST00000333891	NM_033026.5	3532	Gga/Aga	0	not done		probablydamaging	
ICA1		inserm.fr	GRCh37	7	8258031	8258031	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000402384.3:c.483G>A	p.Gln161=	p.Q161=	ENST00000402384	NM_001136020.2	161	caG/caA	0	not done		synonymous	
PCLO		inserm.fr	GRCh37	7	82581769	82581769	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC301T																					ENST00000333891.9:c.8500C>A	p.Pro2834Thr	p.P2834T	ENST00000333891	NM_033026.5	2834	Ccc/Acc	0	validated		possiblydamaging	
PCLO		inserm.fr	GRCh37	7	82582315	82582315	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB167T																					ENST00000333891.9:c.7954C>A	p.Pro2652Thr	p.P2652T	ENST00000333891	NM_033026.5	2652	Cct/Act	0	validated		benign	
PCLO		inserm.fr	GRCh37	7	82582608	82582608	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			BCB109T									Valid												ENST00000333891.9:c.7661T>A	p.Leu2554Ter	p.L2554*	ENST00000333891	NM_033026.5	2554	tTg/tAg	0	validated		damaging	
PCLO		inserm.fr	GRCh37	7	82583633	82583633	+	synonymous_variant	Silent	SNP	C	T	T			CHC1602T																					ENST00000333891.9:c.6636G>A	p.Glu2212=	p.E2212=	ENST00000333891	NM_033026.5	2212	gaG/gaA	0	not done		synonymous	
PCLO		inserm.fr	GRCh37	7	82585441	82585441	+	synonymous_variant	Silent	SNP	G	T	T			BCB231T																					ENST00000333891.9:c.4828C>A	p.Arg1610=	p.R1610=	ENST00000333891	NM_033026.5	1610	Cga/Aga	0	validated		synonymous	
HTRA3		inserm.fr	GRCh37	4	8271756	8271756	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000307358.2:c.61C>T	p.Pro21Ser	p.P21S	ENST00000307358	NM_053044.3	21	Cct/Tct	0	not done		benign	
SNX16		inserm.fr	GRCh37	8	82741736	82741736	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000396330.2:c.391G>A	p.Val131Ile	p.V131I	ENST00000396330	NM_022133.3	131	Gta/Ata	0	not done		benign	
PCLO		inserm.fr	GRCh37	7	82764456	82764456	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC432T																					ENST00000333891.9:c.2410C>A	p.Gln804Lys	p.Q804K	ENST00000333891	NM_033026.5	804	Cag/Aag	0	not done		benign	
METTL25		inserm.fr	GRCh37	12	82780653	82780653	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2029T																					ENST00000248306.3:c.331G>T	p.Ala111Ser	p.A111S	ENST00000248306	NM_032230.2	111	Gct/Tct	0	not done		benign	
PCLO		inserm.fr	GRCh37	7	82784518	82784518	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1148T																					ENST00000333891.9:c.1439C>A	p.Pro480Gln	p.P480Q	ENST00000333891	NM_033026.5	480	cCa/cAa	0	validated		probablydamaging	
PCLO		inserm.fr	GRCh37	7	82791846	82791846	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000333891.9:c.63G>A	p.Ala21=	p.A21=	ENST00000333891	NM_033026.5	21	gcG/gcA	0	not done		synonymous	
VCAN		inserm.fr	GRCh37	5	82815934	82815934	+	synonymous_variant	Silent	SNP	C	T	T			CHC1731T																					ENST00000265077.3:c.1809C>T	p.Ser603=	p.S603=	ENST00000265077	NM_004385.4	603	tcC/tcT	0	not done		synonymous	
VCAN		inserm.fr	GRCh37	5	82833384	82833384	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM545T																					ENST00000265077.3:c.4562C>T	p.Ser1521Leu	p.S1521L	ENST00000265077	NM_004385.4	1521	tCa/tTa	0	validated		probablydamaging	
VCAN		inserm.fr	GRCh37	5	82836806	82836806	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265077.3:c.7984C>T	p.Gln2662Ter	p.Q2662*	ENST00000265077	NM_004385.4	2662	Caa/Taa	0	not done		damaging	
AZU1		inserm.fr	GRCh37	19	828383	828383	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2103T																					ENST00000233997.2:c.212G>T	p.Ser71Ile	p.S71I	ENST00000233997	NM_001700.3	71	aGc/aTc	0	not done		probablydamaging	
PCF11		inserm.fr	GRCh37	11	82868601	82868601	+	synonymous_variant	Silent	SNP	G	T	T			CHC1192T																					ENST00000298281.4:c.120G>T	p.Leu40=	p.L40=	ENST00000298281	NM_015885.3	40	ctG/ctT	0	not done		synonymous	
PCF11		inserm.fr	GRCh37	11	82874770	82874770	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1209T																					ENST00000298281.4:c.368A>T	p.Asp123Val	p.D123V	ENST00000298281	NM_015885.3	123	gAt/gTt	0	not done		probablydamaging	
IBTK		inserm.fr	GRCh37	6	82912345	82912345	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000306270.7:c.2629G>A	p.Ala877Thr	p.A877T	ENST00000306270	NM_015525.2	877	Gct/Act	0	not done		benign	
HAPLN1		inserm.fr	GRCh37	5	82940219	82940219	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC155T									Valid												ENST00000274341.4:c.738C>A	p.Ser246Arg	p.S246R	ENST00000274341	NM_001884.3	246	agC/agA	0	validated		benign	
HAPLN1		inserm.fr	GRCh37	5	82940347	82940347	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1040T																					ENST00000274341.4:c.610T>A	p.Trp204Arg	p.W204R	ENST00000274341	NM_001884.3	204	Tgg/Agg	0	not done		probablydamaging	
HTRA3		inserm.fr	GRCh37	4	8294062	8294062	+	synonymous_variant	Silent	SNP	G	T	T			CHC1744T																					ENST00000307358.2:c.918G>T	p.Gly306=	p.G306=	ENST00000307358	NM_053044.3	306	ggG/ggT	0	not done		synonymous	
IBTK		inserm.fr	GRCh37	6	82950118	82950118	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000306270.7:c.86G>A	p.Ser29Asn	p.S29N	ENST00000306270	NM_015525.2	29	aGc/aAc	0	not done		benign	
CDH13		inserm.fr	GRCh37	16	83065668	83065668	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000268613.10:c.352C>T	p.Pro118Ser	p.P118S	ENST00000268613		118	Cca/Tca	0	not done		probablydamaging	
TPBG		inserm.fr	GRCh37	6	83074892	83074892	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC433T																					ENST00000369750.3:c.214G>T	p.Ala72Ser	p.A72S	ENST00000369750		72	Gcg/Tcg	0	validated		benign	
CYLC1		inserm.fr	GRCh37	X	83128002	83128002	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC917T																					ENST00000329312.4:c.286G>T	p.Glu96Ter	p.E96*	ENST00000329312	NM_021118.2	96	Gaa/Taa	0	validated		damaging	
CYLC1		inserm.fr	GRCh37	X	83128232	83128232	+	synonymous_variant	Silent	SNP	C	T	T			CHC1065T																					ENST00000329312.4:c.516C>T	p.Ser172=	p.S172=	ENST00000329312	NM_021118.2	172	tcC/tcT	0	validated		synonymous	
CYLC1		inserm.fr	GRCh37	X	83129407	83129407	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1603T																					ENST00000329312.4:c.1691C>T	p.Thr564Ile	p.T564I	ENST00000329312	NM_021118.2	564	aCa/aTa	0	not done		benign	
CYLC1		inserm.fr	GRCh37	X	83129584	83129584	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T									Valid												ENST00000329312.4:c.1868G>T	p.Arg623Leu	p.R623L	ENST00000329312	NM_021118.2	623	cGt/cTt	0	validated		probablydamaging	
CPEB1		inserm.fr	GRCh37	15	83226697	83226697	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000568128.1:c.419G>A	p.Gly140Glu	p.G140E	ENST00000568128	NM_030594.3	140	gGa/gAa	0	validated		probablydamaging	
AP3B2		inserm.fr	GRCh37	15	83328394	83328394	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2110Tbis																					ENST00000261722.3:c.3167C>A	p.Ala1056Asp	p.A1056D	ENST00000261722	NM_004644.4	1056	gCt/gAt	0	not done		probablydamaging	
AP3B2		inserm.fr	GRCh37	15	83349438	83349438	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261722.3:c.841G>A	p.Gly281Arg	p.G281R	ENST00000261722	NM_004644.4	281	Ggg/Agg	0	not done		benign	
AP3B2		inserm.fr	GRCh37	15	83350275	83350275	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1715T																					ENST00000261722.3:c.418C>A	p.Pro140Thr	p.P140T	ENST00000261722	NM_004644.4	140	Ccc/Acc	0	not done		possiblydamaging	
AP3B2		inserm.fr	GRCh37	15	83350332	83350332	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			BCM339T																					ENST00000261722.3:c.361G>A	p.Asp121Asn	p.D121N	ENST00000261722	NM_004644.4	121	Gat/Aat	0	validated		probablydamaging	
EDIL3		inserm.fr	GRCh37	5	83356242	83356242	+	synonymous_variant	Silent	SNP	G	T	T			CHC1742T																					ENST00000296591.5:c.1014C>A	p.Ser338=	p.S338=	ENST00000296591	NM_005711.4	338	tcC/tcA	0	not done		synonymous	
RPS6KA6		inserm.fr	GRCh37	X	83375029	83375029	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000262752.2:c.653G>A	p.Gly218Glu	p.G218E	ENST00000262752	NM_014496.4	218	gGa/gAa	0	not done		probablydamaging	
SEMA3A		inserm.fr	GRCh37	7	83636711	83636711	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265362.4:c.1098G>A	p.Trp366Ter	p.W366*	ENST00000265362	NM_006080.2	366	tgG/tgA	0	not done		damaging	
THAP9		inserm.fr	GRCh37	4	83827507	83827507	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM723T																					ENST00000302236.5:c.307G>T	p.Ala103Ser	p.A103S	ENST00000302236	NM_024672.4	103	Gca/Tca	0	validated		probablydamaging	
DOPEY1		inserm.fr	GRCh37	6	83834493	83834493	+	synonymous_variant	Silent	SNP	C	T	T			BCB325T																					ENST00000349129.2:c.1410C>T	p.Thr470=	p.T470=	ENST00000349129	NM_015018.3	470	acC/acT	0	validated		synonymous	
PTPRD		inserm.fr	GRCh37	9	8389233	8389233	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000356435.5:c.4385G>A	p.Arg1462Lys	p.R1462K	ENST00000356435		1462	aGg/aAg	0	not done		probablydamaging	
BNC1		inserm.fr	GRCh37	15	83926844	83926844	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1061T																					ENST00000345382.2:c.2335T>A	p.Leu779Met	p.L779M	ENST00000345382	NM_001717.3	779	Ttg/Atg	0	validated		probablydamaging	
BNC1		inserm.fr	GRCh37	15	83932022	83932022	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1052T																					ENST00000345382.2:c.1981G>A	p.Gly661Arg	p.G661R	ENST00000345382	NM_001717.3	661	Ggg/Agg	0	validated		benign	
BNC1		inserm.fr	GRCh37	15	83932318	83932318	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000345382.2:c.1685G>A	p.Ser562Asn	p.S562N	ENST00000345382	NM_001717.3	562	aGc/aAc	0	not done		benign	
BNC1		inserm.fr	GRCh37	15	83933053	83933053	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC884T																					ENST00000345382.2:c.950G>A	p.Ser317Asn	p.S317N	ENST00000345382	NM_001717.3	317	aGc/aAc	0	validated		benign	
KANK3		inserm.fr	GRCh37	19	8397899	8397899	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000330915.3:c.1935G>A	p.Thr645=	p.T645=	ENST00000330915	NM_198471.2	645	acG/acA	0	not done		damaging	
SLC45A1		inserm.fr	GRCh37	1	8398041	8398041	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000471889.1:c.1763C>T	p.Ala588Val	p.A588V	ENST00000471889		588	gCc/gTc	0	not done		possiblydamaging	
KANK3		inserm.fr	GRCh37	19	8398910	8398910	+	synonymous_variant	Silent	SNP	G	T	T			CHC197T																					ENST00000330915.3:c.1518C>A	p.Ser506=	p.S506=	ENST00000330915	NM_198471.2	506	tcC/tcA	0	validated		synonymous	
KANK3		inserm.fr	GRCh37	19	8399442	8399442	+	synonymous_variant	Silent	SNP	G	T	T			CHC614T																					ENST00000330915.3:c.1269C>A	p.Ser423=	p.S423=	ENST00000330915	NM_198471.2	423	tcC/tcA	0	validated		synonymous	
KANK3		inserm.fr	GRCh37	19	8400290	8400290	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1079T																					ENST00000330915.3:c.421C>A	p.Leu141Met	p.L141M	ENST00000330915	NM_198471.2	141	Ctg/Atg	0	validated		probablydamaging	
CHTF18		inserm.fr	GRCh37	16	840224	840224	+	synonymous_variant	Silent	SNP	G	T	T			CHC304T																					ENST00000262315.9:c.654G>T	p.Leu218=	p.L218=	ENST00000262315	NM_022092.2	218	ctG/ctT	0	validated		synonymous	
PLAC8		inserm.fr	GRCh37	4	84028971	84028971	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000426923.2:c.104G>A	p.Ser35Asn	p.S35N	ENST00000426923	NM_001130715.1	35	aGc/aAc	0	not done		benign	
POLR2L		inserm.fr	GRCh37	11	840439	840439	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1556T																					ENST00000322028.4:c.137G>A	p.Arg46His	p.R46H	ENST00000322028	NM_021128.4	46	cGc/cAc	0	not done		possiblydamaging	
SLC38A8		inserm.fr	GRCh37	16	84065574	84065574	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000299709.3:c.531-1G>A		p.X177_splice	ENST00000299709	NM_001080442.1			0	not done		damaging	
ACOX3		inserm.fr	GRCh37	4	8407724	8407724	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000356406.5:c.734G>A	p.Gly245Asp	p.G245D	ENST00000356406	NM_003501.2	245	gGc/gAc	0	not done		probablydamaging	
MYH10		inserm.fr	GRCh37	17	8408106	8408106	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC961T									Valid												ENST00000360416.3:c.3505G>A	p.Glu1169Lys	p.E1169K	ENST00000360416	NM_001256012.1	1169	Gaa/Aaa	0	validated		probablydamaging	
DNAAF1		inserm.fr	GRCh37	16	84199486	84199486	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2029T																					ENST00000378553.5:c.961A>T	p.Ile321Phe	p.I321F	ENST00000378553	NM_178452.4	321	Att/Ttt	0	not done		benign	
DMRT1		inserm.fr	GRCh37	9	842132	842132	+	synonymous_variant	Silent	SNP	C	T	T			CHC1746T																					ENST00000382276.3:c.294C>T	p.Arg98=	p.R98=	ENST00000382276	NM_021951.2	98	cgC/cgT	0	not done		synonymous	
TAF1C		inserm.fr	GRCh37	16	84215247	84215247	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000567759.1:c.1057G>A	p.Ala353Thr	p.A353T	ENST00000567759	NM_005679.3	353	Gcc/Acc	0	not done		probablydamaging	
TAF1C		inserm.fr	GRCh37	16	84215970	84215970	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000567759.1:c.559G>A	p.Ala187Thr	p.A187T	ENST00000567759	NM_005679.3	187	Gcg/Acg	0	not done		possiblydamaging	
HPSE		inserm.fr	GRCh37	4	84223362	84223362	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000405413.2:c.1266C>A	p.Ser422Arg	p.S422R	ENST00000405413	NM_006665.5	422	agC/agA	0	not done		benign	
TLE1		inserm.fr	GRCh37	9	84226764	84226764	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM265T																					ENST00000376499.3:c.1174G>A	p.Ala392Thr	p.A392T	ENST00000376499	NM_005077.3	392	Gcc/Acc	0	validated		benign	
ADAD2		inserm.fr	GRCh37	16	84228683	84228683	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000268624.3:c.832C>T	p.Leu278=	p.L278=	ENST00000268624	NM_139174.3	278	Ctg/Ttg	0	not done		synonymous	
ADAD2		inserm.fr	GRCh37	16	84229785	84229785	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000268624.3:c.1581C>T	p.Pro527=	p.P527=	ENST00000268624	NM_139174.3	527	ccC/ccT	0	not done		synonymous	
HPSE		inserm.fr	GRCh37	4	84230035	84230035	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000405413.2:c.1054G>A	p.Ala352Thr	p.A352T	ENST00000405413	NM_006665.5	352	Gcg/Acg	0	not done		probablydamaging	
ADAD2		inserm.fr	GRCh37	16	84230322	84230322	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB325T																					ENST00000268624.3:c.1842G>T	p.Arg614Ser	p.R614S	ENST00000268624	NM_139174.3	614	agG/agT	0	validated		benign	
HPSE		inserm.fr	GRCh37	4	84243475	84243475	+	synonymous_variant	Silent	SNP	C	T	T			CHC307T																					ENST00000405413.2:c.270G>A	p.Ala90=	p.A90=	ENST00000405413	NM_006665.5	90	gcG/gcA	0	validated		synonymous	
KCNG4		inserm.fr	GRCh37	16	84270672	84270672	+	synonymous_variant	Silent	SNP	C	T	T			CHC051T																					ENST00000308251.4:c.420G>A	p.Ala140=	p.A140=	ENST00000308251	NM_172347.2	140	gcG/gcA	0	validated		synonymous	
SNAP91		inserm.fr	GRCh37	6	84303434	84303434	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000439399.2:c.1459G>A	p.Ala487Thr	p.A487T	ENST00000439399	NM_014841.2	487	Gca/Aca	0	not done		probablydamaging	
WFDC1		inserm.fr	GRCh37	16	84351898	84351898	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000219454.5:c.358C>T	p.Pro120Ser	p.P120S	ENST00000219454	NM_001282467.1	120	Ccg/Tcg	0	not done		probablydamaging	
WFDC1		inserm.fr	GRCh37	16	84360536	84360536	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1545T																					ENST00000219454.5:c.653A>T	p.His218Leu	p.H218L	ENST00000219454	NM_001282467.1	218	cAc/cTc	0	not done		probablydamaging	
SATL1		inserm.fr	GRCh37	X	84362652	84362652	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000509231.1:c.1323G>A	p.Met441Ile	p.M441I	ENST00000509231		441	atG/atA	0	not done		possiblydamaging	
SNAP91		inserm.fr	GRCh37	6	84371229	84371229	+	synonymous_variant	Silent	SNP	C	T	T			BCM703T																					ENST00000439399.2:c.444G>A	p.Val148=	p.V148=	ENST00000439399	NM_014841.2	148	gtG/gtA	0	validated		synonymous	
ADAMTSL3		inserm.fr	GRCh37	15	84373213	84373213	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC912T									Valid												ENST00000286744.5:c.142G>T	p.Glu48Ter	p.E48*	ENST00000286744	NM_207517.2	48	Gaa/Taa	0	validated		damaging	
MRPS18C		inserm.fr	GRCh37	4	84379542	84379542	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2098T																					ENST00000295491.4:c.194G>T	p.Cys65Phe	p.C65F	ENST00000295491	NM_016067.2	65	tGt/tTt	0	not done		possiblydamaging	
FAM175A		inserm.fr	GRCh37	4	84403331	84403331	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC469T																					ENST00000321945.7:c.154G>A	p.Asp52Asn	p.D52N	ENST00000321945	NM_139076.2	52	Gat/Aat	0	validated		benign	
FAM175A		inserm.fr	GRCh37	4	84406181	84406181	+	synonymous_variant	Silent	SNP	G	T	T			CHC307T																					ENST00000321945.7:c.45C>A	p.Leu15=	p.L15=	ENST00000321945	NM_139076.2	15	ctC/ctA	0	validated		synonymous	
TTLL7		inserm.fr	GRCh37	1	84417528	84417528	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC1597T																					ENST00000260505.8:c.157G>A	p.Val53Ile	p.V53I	ENST00000260505	NM_024686.4	53	Gtt/Att	0	not done		probablydamaging	
SNAP91		inserm.fr	GRCh37	6	84417569	84417569	+	synonymous_variant	Silent	SNP	G	T	T			BCM397T																					ENST00000439399.2:c.78C>A	p.Val26=	p.V26=	ENST00000439399	NM_014841.2	26	gtC/gtA	0	validated		synonymous	
SLITRK1		inserm.fr	GRCh37	13	84453946	84453946	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC327T																					ENST00000377084.2:c.1697G>A	p.Arg566Lys	p.R566K	ENST00000377084	NM_052910.2	566	aGa/aAa	0	validated		benign	
SLITRK1		inserm.fr	GRCh37	13	84454111	84454111	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T									Valid												ENST00000377084.2:c.1532T>A	p.Val511Glu	p.V511E	ENST00000377084	NM_052910.2	511	gTg/gAg	0	validated		probablydamaging	
ADAMTSL3		inserm.fr	GRCh37	15	84488748	84488748	+	synonymous_variant	Silent	SNP	A	T	T			CHC121T																					ENST00000286744.5:c.549A>T	p.Gly183=	p.G183=	ENST00000286744	NM_207517.2	183	ggA/ggT	0	validated		synonymous	
RIPPLY2		inserm.fr	GRCh37	6	84563188	84563188	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM423T																					ENST00000369689.1:c.53C>T	p.Ala18Val	p.A18V	ENST00000369689	NM_001009994.2	18	gCg/gTg	0	validated		benign	
POF1B		inserm.fr	GRCh37	X	84622772	84622772	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC429T									Valid												ENST00000262753.4:c.283-1G>A		p.X95_splice	ENST00000262753	NM_024921.3			0	validated		damaging	
PRTN3		inserm.fr	GRCh37	19	846281	846281	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM439T																					ENST00000234347.5:c.504G>T	p.Gln168His	p.Q168H	ENST00000234347	NM_002777.3	168	caG/caT	0	validated		benign	
PRKACB		inserm.fr	GRCh37	1	84649734	84649734	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000370685.3:c.393G>T	p.Lys131Asn	p.K131N	ENST00000370685	NM_182948.2	131	aaG/aaT	0	validated		possiblydamaging	
PTPRD		inserm.fr	GRCh37	9	8465658	8465658	+	synonymous_variant	Silent	SNP	A	T	T			CHC469T																					ENST00000356435.5:c.3522T>A	p.Ser1174=	p.S1174=	ENST00000356435		1174	tcT/tcA	0	validated		synonymous	
RAB11B		inserm.fr	GRCh37	19	8467003	8467003	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000328024.6:c.270G>T	p.Val90=	p.V90=	ENST00000328024	NM_004218.3	90	gtG/gtT	0	validated		synonymous	
ADAMTSL3		inserm.fr	GRCh37	15	84694010	84694010	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000286744.5:c.4478C>T	p.Ser1493Leu	p.S1493L	ENST00000286744	NM_207517.2	1493	tCa/tTa	0	not done		probablydamaging	
SEMA3D		inserm.fr	GRCh37	7	84727277	84727277	+	synonymous_variant	Silent	SNP	C	T	T			CHC1715T																					ENST00000284136.6:c.156G>A	p.Leu52=	p.L52=	ENST00000284136	NM_152754.2	52	ttG/ttA	0	not done		synonymous	
DNAH6		inserm.fr	GRCh37	2	84804441	84804441	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000389394.3:c.1985C>T	p.Ala662Val	p.A662V	ENST00000389394	NM_001370.1	662	gCg/gTg	0	validated		possiblydamaging	
DNAH6		inserm.fr	GRCh37	2	84832664	84832664	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1568T																					ENST00000389394.3:c.3122C>T	p.Pro1041Leu	p.P1041L	ENST00000389394	NM_001370.1	1041	cCt/cTt	0	not done		possiblydamaging	
KIAA1009		inserm.fr	GRCh37	6	84870609	84870609	+	synonymous_variant	Silent	SNP	C	T	T			CHC614T																					ENST00000403245.3:c.2703G>A	p.Gly901=	p.G901=	ENST00000403245	NM_014895.2	901	ggG/ggA	0	validated		synonymous	
CRISPLD2		inserm.fr	GRCh37	16	84883073	84883073	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000262424.5:c.442C>T	p.Pro148Ser	p.P148S	ENST00000262424	NM_031476.3	148	Ccc/Tcc	0	not done		probablydamaging	
DNAH6		inserm.fr	GRCh37	2	84990044	84990044	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1741T																					ENST00000389394.3:c.10678G>T	p.Ala3560Ser	p.A3560S	ENST00000389394	NM_001370.1	3560	Gcc/Tcc	0	not done		probablydamaging	
C1orf180		inserm.fr	GRCh37	1	85096407	85096407	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1591T																					ENST00000370624.1:c.262C>A	p.Leu88Ile	p.L88I	ENST00000370624		88	Ctt/Att	0	not done			
KIAA0513		inserm.fr	GRCh37	16	85111142	85111142	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC121T									Valid												ENST00000566428.1:c.686G>T	p.Arg229Leu	p.R229L	ENST00000566428	NM_001286565.1	229	cGg/cTg	0	validated		probablydamaging	
ZSCAN2		inserm.fr	GRCh37	15	85165076	85165076	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T									Valid												ENST00000448803.2:c.1650A>T	p.Arg550Ser	p.R550S	ENST00000448803	NM_181877.3	550	agA/agT	0	validated		probablydamaging	
ZNF592		inserm.fr	GRCh37	15	85327304	85327304	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000299927.3:c.1398G>T	p.Gly466=	p.G466=	ENST00000299927		466	ggG/ggT	0	validated		synonymous	
LPAR3		inserm.fr	GRCh37	1	85331682	85331682	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1742T																					ENST00000440886.1:c.122G>A	p.Cys41Tyr	p.C41Y	ENST00000440886		41	tGc/tAc	0	not done		probablydamaging	
ANGPT4		inserm.fr	GRCh37	20	853651	853651	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1186T																					ENST00000381922.3:c.1464C>A	p.Ser488Arg	p.S488R	ENST00000381922	NM_015985.2	488	agC/agA	0	not done		probablydamaging	
CREBZF		inserm.fr	GRCh37	11	85375019	85375019	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM269T									Valid												ENST00000527447.1:c.901G>A	p.Ala301Thr	p.A301T	ENST00000527447	NM_001039618.2	301	Gcc/Acc	0	validated		probablydamaging	
KAL1		inserm.fr	GRCh37	X	8538541	8538541	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000262648.3:c.1061G>A	p.Gly354Glu	p.G354E	ENST00000262648	NM_000216.2	354	gGg/gAg	0	not done		possiblydamaging	
ALPK3		inserm.fr	GRCh37	15	85401632	85401632	+	synonymous_variant	Silent	SNP	G	T	T			CHC322T																					ENST00000258888.5:c.4269G>T	p.Ala1423=	p.A1423=	ENST00000258888	NM_020778.4	1423	gcG/gcT	0	validated		synonymous	
TSPAN19		inserm.fr	GRCh37	12	85408323	85408323	+	synonymous_variant	Silent	SNP	G	T	T			CHC121T																					ENST00000532498.2:c.690C>A	p.Val230=	p.V230=	ENST00000532498	NM_001100917.1	230	gtC/gtA	0	validated		synonymous	
NKX6-1		inserm.fr	GRCh37	4	85419152	85419152	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2034T																					ENST00000295886.4:c.230C>A	p.Thr77Lys	p.T77K	ENST00000295886	NM_006168.2	77	aCg/aAg	0	not done		benign	
SYTL2		inserm.fr	GRCh37	11	85436413	85436413	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000354566.3:c.1087G>A	p.Asp363Asn	p.D363N	ENST00000354566	NM_206927.2	363	Gat/Aat	0	not done		benign	
TBX18		inserm.fr	GRCh37	6	85446868	85446868	+	synonymous_variant	Silent	SNP	C	T	T			BCM783T																					ENST00000369663.5:c.1359G>A	p.Arg453=	p.R453=	ENST00000369663	NM_001080508.2	453	agG/agA	0	validated		synonymous	
LRRIQ1		inserm.fr	GRCh37	12	85449578	85449578	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1597T																					ENST00000393217.2:c.1007G>T	p.Arg336Leu	p.R336L	ENST00000393217	NM_001079910.1	336	cGa/cTa	0	not done		probablydamaging	
SYTL2		inserm.fr	GRCh37	11	85456739	85456739	+	synonymous_variant	Silent	SNP	A	T	T			CHC1191T																					ENST00000316356.4:c.330T>A	p.Pro110=	p.P110=	ENST00000316356		110	ccT/ccA	0	not done		synonymous	
CDS1		inserm.fr	GRCh37	4	85530581	85530581	+	splice_acceptor_variant	Splice_Site	SNP	G	T	T			CHC1061T									Valid												ENST00000295887.5:c.246-1G>T		p.X82_splice	ENST00000295887	NM_001263.3			0	validated		damaging	
RERE		inserm.fr	GRCh37	1	8555215	8555215	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000337907.3:c.1012G>A	p.Ala338Thr	p.A338T	ENST00000337907	NM_012102.3	338	Gcg/Acg	0	not done		probablydamaging	
CDS1		inserm.fr	GRCh37	4	85552989	85552989	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000295887.5:c.598C>T	p.Leu200=	p.L200=	ENST00000295887	NM_001263.3	200	Ctg/Ttg	0	not done		synonymous	
CLDN23		inserm.fr	GRCh37	8	8560738	8560738	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1624T																					ENST00000519106.1:c.830G>T	p.Cys277Phe	p.C277F	ENST00000519106	NM_194284.2	277	tGc/tTc	0	validated		probablydamaging	
PDE8A		inserm.fr	GRCh37	15	85610408	85610408	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC301T																					ENST00000310298.4:c.407G>T	p.Arg136Leu	p.R136L	ENST00000310298		136	cGa/cTa	0	validated		possiblydamaging	
RASEF		inserm.fr	GRCh37	9	85613331	85613331	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T									Valid												ENST00000376447.3:c.1754T>A	p.Val585Glu	p.V585E	ENST00000376447	NM_152573.3	585	gTg/gAg	0	validated		probablydamaging	
RASEF		inserm.fr	GRCh37	9	85622372	85622372	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000376447.3:c.1008G>A	p.Glu336=	p.E336=	ENST00000376447	NM_152573.3	336	gaG/gaA	0	not done		synonymous	
LRRIQ1		inserm.fr	GRCh37	12	85623375	85623375	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC197T									Valid												ENST00000393217.2:c.4903C>T	p.Leu1635Phe	p.L1635F	ENST00000393217	NM_001079910.1	1635	Ctt/Ttt	0	validated		probablydamaging	
SYDE2		inserm.fr	GRCh37	1	85630327	85630327	+	synonymous_variant	Silent	SNP	C	T	T			CHC1154T																					ENST00000341460.5:c.2967G>A	p.Gln989=	p.Q989=	ENST00000341460	NM_032184.1	989	caG/caA	0	not done		synonymous	
PRAM1		inserm.fr	GRCh37	19	8563406	8563406	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1180T																					ENST00000423345.4:c.1286C>A	p.Ala429Asp	p.A429D	ENST00000423345		429	gCc/gAc	0	validated		possiblydamaging	
PRAM1		inserm.fr	GRCh37	19	8564665	8564665	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000423345.4:c.28-1G>A		p.X10_splice	ENST00000423345				0	not done		damaging	
WDFY3		inserm.fr	GRCh37	4	85661343	85661343	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC326T																					ENST00000295888.4:c.6461G>A	p.Gly2154Glu	p.G2154E	ENST00000295888	NM_014991.4	2154	gGa/gAa	0	validated		benign	
WDFY3		inserm.fr	GRCh37	4	85663030	85663030	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000295888.4:c.6118G>A	p.Val2040Ile	p.V2040I	ENST00000295888	NM_014991.4	2040	Gta/Ata	0	not done		benign	
GSE1		inserm.fr	GRCh37	16	85697190	85697190	+	synonymous_variant	Silent	SNP	C	T	T			CHC1616T																					ENST00000253458.7:c.2614C>T	p.Leu872=	p.L872=	ENST00000253458	NM_014615.3	872	Ctg/Ttg	0	not done		synonymous	
WDFY3		inserm.fr	GRCh37	4	85715718	85715718	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM375T																					ENST00000295888.4:c.3441C>A	p.Asp1147Glu	p.D1147E	ENST00000295888	NM_014991.4	1147	gaC/gaA	0	validated		benign	
WDFY3		inserm.fr	GRCh37	4	85742326	85742326	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000295888.4:c.1502G>A	p.Arg501Lys	p.R501K	ENST00000295888	NM_014991.4	501	aGg/aAg	0	not done		benign	
USP39		inserm.fr	GRCh37	2	85848636	85848636	+	synonymous_variant	Silent	SNP	C	T	T			CHC2216T																					ENST00000323701.6:c.367C>T	p.Leu123=	p.L123=	ENST00000323701	NM_006590.3	123	Ctg/Ttg	0	not done		synonymous	
GPR78		inserm.fr	GRCh37	4	8589019	8589019	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2103T																					ENST00000382487.4:c.1021C>T	p.Pro341Ser	p.P341S	ENST00000382487	NM_080819.4	341	Ccg/Tcg	0	not done		probablydamaging	
LARP4B		inserm.fr	GRCh37	10	858943	858943	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC432T																					ENST00000316157.3:c.2140G>A	p.Gly714Arg	p.G714R	ENST00000316157	NM_015155.2	714	Ggg/Agg	0	not done		probablydamaging	
CDHR1		inserm.fr	GRCh37	10	85964284	85964284	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1040T																					ENST00000372117.3:c.785G>T	p.Gly262Val	p.G262V	ENST00000372117	NM_033100.3	262	gGc/gTc	0	not done		probablydamaging	
CDHR1		inserm.fr	GRCh37	10	85964321	85964321	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000372117.3:c.822C>T	p.Asp274=	p.D274=	ENST00000372117	NM_033100.3	274	gaC/gaT	0	not done		synonymous	
CDHR1		inserm.fr	GRCh37	10	85974163	85974163	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000372117.3:c.2366C>T	p.Pro789Leu	p.P789L	ENST00000372117	NM_033100.3	789	cCg/cTg	0	not done		probablydamaging	
LRIT1		inserm.fr	GRCh37	10	85997409	85997409	+	synonymous_variant	Silent	SNP	C	T	T			CHC2103T																					ENST00000372105.3:c.156G>A	p.Leu52=	p.L52=	ENST00000372105	NM_015613.2	52	ctG/ctA	0	not done		synonymous	
MYO1F		inserm.fr	GRCh37	19	8601206	8601206	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1055T																					ENST00000338257.8:c.1973G>A	p.Arg658Gln	p.R658Q	ENST00000338257	NM_012335.3	658	cGg/cAg	0	validated		benign	
CPZ		inserm.fr	GRCh37	4	8605893	8605893	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000360986.4:c.687C>T	p.Ser229=	p.S229=	ENST00000360986	NM_001014447.2	229	agC/agT	0	not done		synonymous	
DACH2		inserm.fr	GRCh37	X	86068276	86068276	+	synonymous_variant	Silent	SNP	C	T	T			CHC1753T																					ENST00000373125.4:c.1533C>T	p.Ser511=	p.S511=	ENST00000373125	NM_053281.3	511	agC/agT	0	not done		synonymous	
FLRT2		inserm.fr	GRCh37	14	86089128	86089128	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2208T																					ENST00000330753.4:c.1270C>T	p.Arg424Trp	p.R424W	ENST00000330753	NM_013231.4	424	Cgg/Tgg	0	not done		benign	
CADM2		inserm.fr	GRCh37	3	86114781	86114781	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB307T									Valid												ENST00000405615.2:c.1096G>T	p.Gly366Cys	p.G366C	ENST00000405615	NM_153184.3	366	Ggc/Tgc	0	validated		possiblydamaging	
AKAP13		inserm.fr	GRCh37	15	86123983	86123983	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC801T																					ENST00000361243.2:c.2684A>T	p.Gln895Leu	p.Q895L	ENST00000361243	NM_006738.5	895	cAa/cTa	0	not done		benign	
NT5E		inserm.fr	GRCh37	6	86195063	86195063	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1598T																					ENST00000257770.3:c.862G>T	p.Gly288Cys	p.G288C	ENST00000257770	NM_002526.3	288	Ggc/Tgc	0	not done		probablydamaging	
RASSF9		inserm.fr	GRCh37	12	86199412	86199412	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC155T									Valid												ENST00000361228.3:c.376T>A	p.Trp126Arg	p.W126R	ENST00000361228	NM_005447.3	126	Tgg/Agg	0	validated		probablydamaging	
ME3		inserm.fr	GRCh37	11	86209078	86209078	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC917T																					ENST00000543262.1:c.632T>A	p.Leu211Gln	p.L211Q	ENST00000543262	NM_001161586.1	211	cTg/cAg	0	validated		probablydamaging	
SNX14		inserm.fr	GRCh37	6	86238000	86238000	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC923T																					ENST00000314673.3:c.1975G>A	p.Glu659Lys	p.E659K	ENST00000314673	NM_153816.3	659	Gag/Aag	0	not done		probablydamaging	
POLR1A		inserm.fr	GRCh37	2	86270163	86270163	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000263857.6:c.3291G>A	p.Gln1097=	p.Q1097=	ENST00000263857		1097	caG/caA	0	not done		synonymous	
NTS		inserm.fr	GRCh37	12	86276038	86276038	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1751T																					ENST00000256010.6:c.398A>T	p.Lys133Ile	p.K133I	ENST00000256010	NM_006183.4	133	aAa/aTa	0	not done		probablydamaging	
SNX14		inserm.fr	GRCh37	6	86282052	86282052	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1603T																					ENST00000314673.3:c.302G>A	p.Cys101Tyr	p.C101Y	ENST00000314673	NM_153816.3	101	tGt/tAt	0	not done		probablydamaging	
COL24A1		inserm.fr	GRCh37	1	86282495	86282495	+	synonymous_variant	Silent	SNP	C	T	T			CHC155T																					ENST00000370571.2:c.3927G>A	p.Gly1309=	p.G1309=	ENST00000370571	NM_152890.5	1309	ggG/ggA	0	validated		synonymous	
UBQLN1		inserm.fr	GRCh37	9	86294873	86294873	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000376395.4:c.528G>A	p.Gln176=	p.Q176=	ENST00000376395	NM_053067.2	176	caG/caA	0	not done		synonymous	
UBQLN1		inserm.fr	GRCh37	9	86294918	86294918	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000376395.4:c.483G>A	p.Leu161=	p.L161=	ENST00000376395	NM_053067.2	161	ttG/ttA	0	not done		synonymous	
COL24A1		inserm.fr	GRCh37	1	86306931	86306931	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1010T																					ENST00000370571.2:c.3601G>A	p.Gly1201Arg	p.G1201R	ENST00000370571	NM_152890.5	1201	Gga/Aga	0	not done		probablydamaging	
KLHL25		inserm.fr	GRCh37	15	86311546	86311546	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000337975.5:c.1496G>A	p.Gly499Asp	p.G499D	ENST00000337975	NM_022480.3	499	gGt/gAt	0	not done		probablydamaging	
KLHL25		inserm.fr	GRCh37	15	86311749	86311749	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000337975.5:c.1293G>A	p.Arg431=	p.R431=	ENST00000337975	NM_022480.3	431	cgG/cgA	0	not done		synonymous	
KLHL25		inserm.fr	GRCh37	15	86312088	86312088	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000337975.5:c.954G>A	p.Lys318=	p.K318=	ENST00000337975	NM_022480.3	318	aaG/aaA	0	not done		synonymous	
COL24A1		inserm.fr	GRCh37	1	86355282	86355282	+	synonymous_variant	Silent	SNP	C	T	T			BCM339T																					ENST00000370571.2:c.2937G>A	p.Leu979=	p.L979=	ENST00000370571	NM_152890.5	979	ttG/ttA	0	validated		synonymous	
COL24A1		inserm.fr	GRCh37	1	86355296	86355296	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370571.2:c.2923G>A	p.Gly975Ser	p.G975S	ENST00000370571	NM_152890.5	975	Ggt/Agt	0	not done		probablydamaging	
SLITRK6		inserm.fr	GRCh37	13	86368454	86368454	+	synonymous_variant	Silent	SNP	G	T	T			CHC1741T																					ENST00000400286.2:c.2190C>A	p.Leu730=	p.L730=	ENST00000400286	NM_032229.2	730	ctC/ctA	0	not done		synonymous	
IMMT		inserm.fr	GRCh37	2	86393635	86393635	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1602T																					ENST00000410111.3:c.788C>A	p.Ser263Tyr	p.S263Y	ENST00000410111	NM_001100169.1	263	tCt/tAt	0	validated		possiblydamaging	
GRM3		inserm.fr	GRCh37	7	86415814	86415814	+	synonymous_variant	Silent	SNP	C	T	T			BCM371T																					ENST00000361669.2:c.706C>T	p.Leu236=	p.L236=	ENST00000361669	NM_000840.2	236	Ctg/Ttg	0	validated		synonymous	
GRM3		inserm.fr	GRCh37	7	86416295	86416295	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1154T																					ENST00000361669.2:c.1187C>T	p.Ala396Val	p.A396V	ENST00000361669	NM_000840.2	396	gCg/gTg	0	not done		probablydamaging	
TRIM66		inserm.fr	GRCh37	11	8642118	8642118	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000402157.2:c.3106G>A	p.Gly1036Arg	p.G1036R	ENST00000402157		1036	Gga/Aga	0	not done		probablydamaging	
MRPL35		inserm.fr	GRCh37	2	86433271	86433271	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000337109.4:c.86G>T	p.Arg29Leu	p.R29L	ENST00000337109	NM_016622.3	29	cGc/cTc	0	not done		probablydamaging	
GRM3		inserm.fr	GRCh37	7	86468884	86468884	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000361669.2:c.2054C>T	p.Pro685Leu	p.P685L	ENST00000361669	NM_000840.2	685	cCc/cTc	0	not done		probablydamaging	
ADAMTS10		inserm.fr	GRCh37	19	8650036	8650036	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000270328.4:c.3022G>A	p.Val1008Met	p.V1008M	ENST00000270328		1008	Gtg/Atg	0	not done		probablydamaging	
KIF27		inserm.fr	GRCh37	9	86506251	86506251	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000297814.2:c.1768G>A	p.Gly590Arg	p.G590R	ENST00000297814	NM_017576.2	590	Ggg/Agg	0	not done		benign	
COL24A1		inserm.fr	GRCh37	1	86512524	86512524	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2029T																					ENST00000370571.2:c.1934G>A	p.Gly645Asp	p.G645D	ENST00000370571	NM_152890.5	645	gGt/gAt	0	not done		probablydamaging	
AC008394.1		inserm.fr	GRCh37	5	86514009	86514009	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1745T																					ENST00000445770.2:c.212G>A	p.Ser71Asn	p.S71N	ENST00000445770		71	aGc/aAc	0	validated			
PRSS23		inserm.fr	GRCh37	11	86534555	86534555	+	upstream_gene_variant	5'Flank	SNP	C	T	T			BCM483T																								ENST00000605633				0	validated		synonymous	
FOXF1		inserm.fr	GRCh37	16	86544543	86544543	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000262426.4:c.368C>T	p.Thr123Ile	p.T123I	ENST00000262426	NM_001451.2	123	aCc/aTc	0	not done		probablydamaging	
ADAMTS10		inserm.fr	GRCh37	19	8654816	8654816	+	synonymous_variant	Silent	SNP	G	T	T			CHC429T																					ENST00000270328.4:c.1857C>A	p.Ile619=	p.I619=	ENST00000270328		619	atC/atA	0	validated		synonymous	
C9orf64		inserm.fr	GRCh37	9	86554477	86554477	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000376344.3:c.975G>A	p.Arg325=	p.R325=	ENST00000376344	NM_032307.3	325	agG/agA	0	not done		synonymous	
KIAA1324L		inserm.fr	GRCh37	7	86556064	86556064	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1744T																					ENST00000450689.2:c.1258G>A	p.Asp420Asn	p.D420N	ENST00000450689	NM_001142749.2	420	Gat/Aat	0	not done		benign	
COL24A1		inserm.fr	GRCh37	1	86590792	86590792	+	synonymous_variant	Silent	SNP	C	T	T			CHC609T																					ENST00000370571.2:c.1227G>A	p.Lys409=	p.K409=	ENST00000370571	NM_152890.5	409	aaG/aaA	0	validated		synonymous	
HNRNPK		inserm.fr	GRCh37	9	86591938	86591938	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC432T																					ENST00000376263.3:c.185G>A	p.Gly62Asp	p.G62D	ENST00000376263	NM_031263.2	62	gGc/gAc	0	not done		probablydamaging	
FOXC2		inserm.fr	GRCh37	16	86602425	86602425	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1603T																					ENST00000320354.4:c.1484C>T	p.Ser495Phe	p.S495F	ENST00000320354	NM_005251.2	495	tCc/tTc	0	not done		possiblydamaging	
TRIM66		inserm.fr	GRCh37	11	8660323	8660323	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000402157.2:c.1747G>A	p.Ala583Thr	p.A583T	ENST00000402157		583	Gct/Act	0	not done		benign	
FOXL1		inserm.fr	GRCh37	16	86612682	86612682	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1211T																					ENST00000320241.3:c.353G>T	p.Gly118Val	p.G118V	ENST00000320241	NM_005250.2	118	gGc/gTc	0	not done		possiblydamaging	
TRIM66		inserm.fr	GRCh37	11	8661840	8661840	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000402157.2:c.1641G>A	p.Gly547=	p.G547=	ENST00000402157		547	ggG/ggA	0	not done		synonymous	
TRIM66		inserm.fr	GRCh37	11	8662668	8662668	+	synonymous_variant	Silent	SNP	G	T	T			CHC1611T																					ENST00000402157.2:c.813C>A	p.Ser271=	p.S271=	ENST00000402157		271	tcC/tcA	0	not done		synonymous	
TRIM66		inserm.fr	GRCh37	11	8668033	8668033	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000402157.2:c.477G>A	p.Glu159=	p.E159=	ENST00000402157		159	gaG/gaA	0	not done		synonymous	
SSUH2		inserm.fr	GRCh37	3	8677027	8677027	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000544814.1:c.168G>A	p.Arg56=	p.R56=	ENST00000544814	NM_001256748.1	56	agG/agA	0	not done		synonymous	
AGBL1		inserm.fr	GRCh37	15	86791013	86791013	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC121T									Valid												ENST00000441037.2:c.500G>T	p.Gly167Val	p.G167V	ENST00000441037	NM_152336.2	167	gGc/gTc	0	validated		possiblydamaging	
AGBL1		inserm.fr	GRCh37	15	86807698	86807698	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1545T																					ENST00000441037.2:c.1158A>T	p.Lys386Asn	p.K386N	ENST00000441037	NM_152336.2	386	aaA/aaT	0	not done		benign	
AGBL1		inserm.fr	GRCh37	15	86813236	86813236	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000441037.2:c.1787C>T	p.Ala596Val	p.A596V	ENST00000441037	NM_152336.2	596	gCg/gTg	0	validated		benign	
MED16		inserm.fr	GRCh37	19	868252	868252	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000325464.1:c.2484-1G>A		p.X828_splice	ENST00000325464	NM_005481.2			0	not done		damaging	
RNF103		inserm.fr	GRCh37	2	86831809	86831809	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000237455.4:c.1215G>A	p.Trp405Ter	p.W405*	ENST00000237455	NM_005667.3	405	tgG/tgA	0	not done		damaging	
SLC28A3		inserm.fr	GRCh37	9	86893166	86893166	+	synonymous_variant	Silent	SNP	G	T	T			CHC059T																					ENST00000376238.4:c.2043C>A	p.Thr681=	p.T681=	ENST00000376238	NM_001199633.1	681	acC/acA	0	validated		synonymous	
SLC28A3		inserm.fr	GRCh37	9	86900989	86900989	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000376238.4:c.1318G>A	p.Ala440Thr	p.A440T	ENST00000376238	NM_001199633.1	440	Gca/Aca	0	not done		probablydamaging	
CLCA2		inserm.fr	GRCh37	1	86919170	86919170	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000370565.4:c.2274C>T	p.Gly758=	p.G758=	ENST00000370565	NM_006536.5	758	ggC/ggT	0	not done		synonymous	
CLCA1		inserm.fr	GRCh37	1	86952270	86952270	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1715T																					ENST00000234701.3:c.1016A>T	p.Glu339Val	p.E339V	ENST00000234701		339	gAg/gTg	0	not done		probablydamaging	
RMND5A		inserm.fr	GRCh37	2	86968076	86968076	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC433T									Valid												ENST00000283632.4:c.169C>T	p.Leu57Phe	p.L57F	ENST00000283632	NM_022780.3	57	Ctt/Ttt	0	validated		possiblydamaging	
MAPK10		inserm.fr	GRCh37	4	86988981	86988981	+	synonymous_variant	Silent	SNP	G	T	T			CHC465T																					ENST00000359221.3:c.930C>A	p.Pro310=	p.P310=	ENST00000359221		310	ccC/ccA	0	validated		synonymous	
VGLL3		inserm.fr	GRCh37	3	87018109	87018109	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC909T																					ENST00000398399.2:c.568C>A	p.His190Asn	p.H190N	ENST00000398399	NM_016206.2	190	Cac/Aac	0	not done		possiblydamaging	
ABCB4		inserm.fr	GRCh37	7	87035804	87035804	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM257T																					ENST00000265723.4:c.3307G>A	p.Asp1103Asn	p.D1103N	ENST00000265723	NM_000443.3	1103	Gat/Aat	0	validated		probablydamaging	
CLCA4		inserm.fr	GRCh37	1	87045172	87045172	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1035T																					ENST00000370563.3:c.2258A>T	p.Tyr753Phe	p.Y753F	ENST00000370563	NM_012128.3	753	tAc/tTc	0	validated		benign	
CLCA4		inserm.fr	GRCh37	1	87045737	87045737	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC121T									Valid												ENST00000370563.3:c.2469G>T	p.Lys823Asn	p.K823N	ENST00000370563	NM_012128.3	823	aaG/aaT	0	validated		possiblydamaging	
RGPD1		inserm.fr	GRCh37	2	87205020	87205020	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC361TA																					ENST00000559485.1:c.2405G>T	p.Arg802Leu	p.R802L	ENST00000559485	NM_001024457.3	802	cGg/cTg	0	validated		benign	
SUN1		inserm.fr	GRCh37	7	872221	872221	+	synonymous_variant	Silent	SNP	C	T	T			CHC1601T																					ENST00000401592.1:c.60C>T	p.Gly20=	p.G20=	ENST00000401592	NM_001130965.2	20	ggC/ggT	0	not done		synonymous	
PIK3R6		inserm.fr	GRCh37	17	8725195	8725195	+	synonymous_variant	Silent	SNP	G	T	T			CHC892T																					ENST00000311434.9:c.1845C>A	p.Ile615=	p.I615=	ENST00000311434	NM_001010855.2	615	atC/atA	0	not done			
POU1F1		inserm.fr	GRCh37	3	87313590	87313590	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB301T																					ENST00000344265.3:c.365C>A	p.Pro122His	p.P122H	ENST00000344265	NM_001122757.1	122	cCt/cAt	0	validated		possiblydamaging	
PIK3R6		inserm.fr	GRCh37	17	8732160	8732160	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1763T																					ENST00000311434.9:c.1037T>A	p.Leu346His	p.L346H	ENST00000311434	NM_001010855.2	346	cTt/cAt	0	not done		probablydamaging	
NTRK2		inserm.fr	GRCh37	9	87338509	87338509	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000277120.3:c.605C>T	p.Ala202Val	p.A202V	ENST00000277120		202	gCc/gTc	0	not done		benign	
NTRK2		inserm.fr	GRCh37	9	87339165	87339165	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000277120.3:c.747C>T	p.Ser249=	p.S249=	ENST00000277120		249	tcC/tcT	0	not done		synonymous	
PIK3R6		inserm.fr	GRCh37	17	8736326	8736326	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000311434.9:c.682G>A	p.Ala228Thr	p.A228T	ENST00000311434	NM_001010855.2	228	Gcc/Acc	0	not done		possiblydamaging	
RUNDC3B		inserm.fr	GRCh37	7	87407113	87407113	+	splice_acceptor_variant	Splice_Site	SNP	G	T	T			BCB307T									Valid												ENST00000338056.3:c.850-1G>T		p.X284_splice	ENST00000338056	NM_138290.2			0	validated		damaging	
ZCCHC14		inserm.fr	GRCh37	16	87446482	87446482	+	synonymous_variant	Silent	SNP	A	T	T			CHC609T																					ENST00000268616.4:c.1434T>A	p.Pro478=	p.P478=	ENST00000268616	NM_015144.2	478	ccT/ccA	0	validated		synonymous	
GRID1		inserm.fr	GRCh37	10	87487628	87487628	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000327946.7:c.1517G>A	p.Gly506Glu	p.G506E	ENST00000327946	NM_017551.2	506	gGg/gAg	0	not done		probablydamaging	
MFHAS1		inserm.fr	GRCh37	8	8748841	8748841	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000276282.6:c.1728G>A	p.Val576=	p.V576=	ENST00000276282	NM_004225.2	576	gtG/gtA	0	not done		synonymous	
MFHAS1		inserm.fr	GRCh37	8	8749918	8749918	+	synonymous_variant	Silent	SNP	C	T	T			CHC2110Tbis																					ENST00000276282.6:c.651G>A	p.Arg217=	p.R217=	ENST00000276282	NM_004225.2	217	cgG/cgA	0	not done		synonymous	
DBF4		inserm.fr	GRCh37	7	87536701	87536701	+	synonymous_variant	Silent	SNP	C	T	T			CHC1534T																					ENST00000265728.1:c.1248C>T	p.Ile416=	p.I416=	ENST00000265728	NM_006716.3	416	atC/atT	0	validated		synonymous	
NTRK2		inserm.fr	GRCh37	9	87563548	87563548	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	T	T			CHC1717T																					ENST00000277120.3:c.1936A>T	p.Arg646Trp	p.R646W	ENST00000277120		646	Agg/Tgg	0	not done		probablydamaging	
CPNE3		inserm.fr	GRCh37	8	87570615	87570615	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1545T																					ENST00000521271.1:c.1591G>T	p.Ala531Ser	p.A531S	ENST00000521271	NM_003909.3	531	Gcc/Tcc	0	not done		benign	
AICDA		inserm.fr	GRCh37	12	8757882	8757882	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2141T																					ENST00000229335.6:c.356G>A	p.Arg119His	p.R119H	ENST00000229335	NM_020661.2	119	cGc/cAc	0	not done		benign	
PTPN13		inserm.fr	GRCh37	4	87593670	87593670	+	synonymous_variant	Silent	SNP	C	T	T			CHC1040T																					ENST00000436978.1:c.268C>T	p.Leu90=	p.L90=	ENST00000436978	NM_080685.2	90	Cta/Tta	0	not done		synonymous	
FAM9A		inserm.fr	GRCh37	X	8763363	8763363	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2115T																					ENST00000543214.1:c.587C>A	p.Ala196Asp	p.A196D	ENST00000543214	NM_001171186.1	196	gCc/gAc	0	validated		probablydamaging	
JPH3		inserm.fr	GRCh37	16	87637033	87637033	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1207T																					ENST00000284262.2:c.281G>T	p.Arg94Leu	p.R94L	ENST00000284262	NM_020655.3	94	cGc/cTc	0	not done		possiblydamaging	
JPH3		inserm.fr	GRCh37	16	87678266	87678266	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1602T																					ENST00000284262.2:c.785C>T	p.Ser262Phe	p.S262F	ENST00000284262	NM_020655.3	262	tCc/tTc	0	not done		probablydamaging	
PTPN13		inserm.fr	GRCh37	4	87691320	87691320	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1603T																					ENST00000436978.1:c.4786G>T	p.Gly1596Cys	p.G1596C	ENST00000436978	NM_080685.2	1596	Ggt/Tgt	0	not done		probablydamaging	
JPH3		inserm.fr	GRCh37	16	87717802	87717802	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000284262.2:c.1215C>T	p.Ala405=	p.A405=	ENST00000284262	NM_020655.3	405	gcC/gcT	0	not done		synonymous	
CNGB3		inserm.fr	GRCh37	8	87755737	87755737	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1743T																					ENST00000320005.5:c.119C>A	p.Thr40Asn	p.T40N	ENST00000320005	NM_019098.4	40	aCc/aAc	0	not done		possiblydamaging	
ADAM22		inserm.fr	GRCh37	7	87763647	87763647	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1035T									Valid												ENST00000265727.7:c.1081G>T	p.Gly361Trp	p.G361W	ENST00000265727		361	Ggg/Tgg	0	validated		probablydamaging	
ADAM22		inserm.fr	GRCh37	7	87785231	87785231	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC909T																					ENST00000265727.7:c.1817C>T	p.Thr606Ile	p.T606I	ENST00000265727		606	aCc/aTc	0	not done		benign	
LMO4		inserm.fr	GRCh37	1	87797894	87797894	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2112T																					ENST00000370544.5:c.196A>T	p.Thr66Ser	p.T66S	ENST00000370544	NM_006769.3	66	Acc/Tcc	0	not done		benign	
LMO4		inserm.fr	GRCh37	1	87805859	87805859	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2351T																					ENST00000370544.5:c.463A>T	p.Ser155Cys	p.S155C	ENST00000370544	NM_006769.3	155	Agc/Tgc	0	not done		benign	
SAMD11		inserm.fr	GRCh37	1	878361	878361	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000342066.3:c.1487C>T	p.Ala496Val	p.A496V	ENST00000342066	NM_152486.2	496	gCc/gTc	0	not done		benign	
RAB38		inserm.fr	GRCh37	11	87908538	87908538	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM275T																					ENST00000243662.6:c.15C>A	p.His5Gln	p.H5Q	ENST00000243662	NM_022337.2	5	caC/caA	0	validated		benign	
GRID1		inserm.fr	GRCh37	10	87966133	87966133	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC909T																					ENST00000327946.7:c.508G>A	p.Asp170Asn	p.D170N	ENST00000327946	NM_017551.2	170	Gac/Aac	0	not done		probablydamaging	
CTSC		inserm.fr	GRCh37	11	88045578	88045578	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2103T																					ENST00000227266.5:c.463C>A	p.His155Asn	p.H155N	ENST00000227266	NM_001814.4	155	Cac/Aac	0	not done		benign	
MEF2C		inserm.fr	GRCh37	5	88056848	88056848	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2048T																					ENST00000340208.5:c.413T>A	p.Ile138Asn	p.I138N	ENST00000340208	NM_001193347.1	138	aTt/aAt	0	not done			
CTSC		inserm.fr	GRCh37	11	88068159	88068159	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC796T									Valid												ENST00000227266.5:c.264C>A	p.Tyr88Ter	p.Y88*	ENST00000227266	NM_001814.4	88	taC/taA	0	validated		damaging	
ACTL9		inserm.fr	GRCh37	19	8808826	8808826	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000324436.3:c.226G>A	p.Ala76Thr	p.A76T	ENST00000324436	NM_178525.3	76	Gcc/Acc	0	not done		benign	
MEF2C		inserm.fr	GRCh37	5	88100469	88100469	+	synonymous_variant	Silent	SNP	C	T	T			CHC433T																					ENST00000340208.5:c.204G>A	p.Lys68=	p.K68=	ENST00000340208	NM_001193347.1	68	aaG/aaA	0	validated		synonymous	
SUN1		inserm.fr	GRCh37	7	881675	881675	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000401592.1:c.359G>T	p.Gly120Val	p.G120V	ENST00000401592	NM_001130965.2	120	gGc/gTc	0	not done		benign	
C3orf38		inserm.fr	GRCh37	3	88205676	88205676	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC155T																					ENST00000318887.3:c.881A>T	p.Glu294Val	p.E294V	ENST00000318887	NM_173824.3	294	gAa/gTa	0	validated		probablydamaging	
AGTPBP1		inserm.fr	GRCh37	9	88211298	88211298	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000376083.3:c.2282G>A	p.Gly761Glu	p.G761E	ENST00000376083	NM_015239.2	761	gGg/gAg	0	not done		probablydamaging	
ID2		inserm.fr	GRCh37	2	8822319	8822319	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1568T																					ENST00000234091.4:c.24G>T	p.Arg8Ser	p.R8S	ENST00000234091		8	agG/agT	0	not done		possiblydamaging	
HSD17B13		inserm.fr	GRCh37	4	88235030	88235030	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC326T																					ENST00000328546.4:c.640T>A	p.Ser214Thr	p.S214T	ENST00000328546	NM_178135.3	214	Tca/Aca	0	validated		benign	
GRM5		inserm.fr	GRCh37	11	88242617	88242617	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC218T																					ENST00000418177.2:c.2782C>A	p.His928Asn	p.H928N	ENST00000418177		928	Cac/Aac	0	validated		probablydamaging	
CNBD1		inserm.fr	GRCh37	8	88249259	88249259	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM545T																					ENST00000518476.1:c.690G>T	p.Gln230His	p.Q230H	ENST00000518476	NM_173538.2	230	caG/caT	0	validated		probablydamaging	
GRM5		inserm.fr	GRCh37	11	88300307	88300307	+	synonymous_variant	Silent	SNP	C	T	T			CHC1556T																					ENST00000418177.2:c.2544G>A	p.Gly848=	p.G848=	ENST00000418177		848	ggG/ggA	0	not done		synonymous	
ORC3		inserm.fr	GRCh37	6	88313234	88313234	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1754T																					ENST00000257789.4:c.310G>T	p.Ala104Ser	p.A104S	ENST00000257789		104	Gct/Tct	0	not done		probablydamaging	
ORC3		inserm.fr	GRCh37	6	88313235	88313235	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1754T																					ENST00000257789.4:c.311C>T	p.Ala104Val	p.A104V	ENST00000257789		104	gCt/gTt	0	not done		probablydamaging	
SOGA2		inserm.fr	GRCh37	18	8831810	8831810	+	3_prime_UTR_variant	3'UTR	SNP	A	T	T			CHC2048T																					ENST00000359865.3:c.*224A>T		*75*	ENST00000359865	NM_015210.3			0	not done			
SLITRK5		inserm.fr	GRCh37	13	88327887	88327887	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1725T																					ENST00000325089.6:c.244C>T	p.Pro82Ser	p.P82S	ENST00000325089	NM_015567.1	82	Cca/Tca	0	not done		benign	
SLITRK5		inserm.fr	GRCh37	13	88328954	88328954	+	synonymous_variant	Silent	SNP	C	T	T			CHC510T																					ENST00000325089.6:c.1311C>T	p.Leu437=	p.L437=	ENST00000325089	NM_015567.1	437	ctC/ctT	0	validated		synonymous	
GRM5		inserm.fr	GRCh37	11	88330446	88330446	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC798T									Valid												ENST00000418177.2:c.1469G>A	p.Gly490Glu	p.G490E	ENST00000418177		490	gGa/gAa	0	validated		possiblydamaging	
C12orf50		inserm.fr	GRCh37	12	88374124	88374124	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1035T																					ENST00000298699.2:c.1229G>A	p.Arg410Lys	p.R410K	ENST00000298699	NM_152589.1	410	aGa/aAa	0	validated		probablydamaging	
ORC3		inserm.fr	GRCh37	6	88376835	88376835	+	synonymous_variant	Silent	SNP	C	T	T			CHC314T																					ENST00000257789.4:c.2133C>T	p.Gly711=	p.G711=	ENST00000257789		711	ggC/ggT	0	validated		synonymous	
OPN4		inserm.fr	GRCh37	10	88419072	88419072	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC320T									Valid												ENST00000372071.2:c.680G>T	p.Gly227Val	p.G227V	ENST00000372071	NM_001030015.2	227	gGg/gTg	0	validated		probablydamaging	
OR2Z1		inserm.fr	GRCh37	19	8842215	8842215	+	synonymous_variant	Silent	SNP	C	T	T			BCM567T																					ENST00000324060.2:c.825C>T	p.Ser275=	p.S275=	ENST00000324060	NM_001004699.1	275	tcC/tcT	0	validated		synonymous	
CEP290		inserm.fr	GRCh37	12	88454731	88454731	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB307T									Valid												ENST00000552810.1:c.6398C>A	p.Thr2133Asn	p.T2133N	ENST00000552810	NM_025114.3	2133	aCc/aAc	0	validated		probablydamaging	
LDB3		inserm.fr	GRCh37	10	88459081	88459081	+	intron_variant	Intron	SNP	C	T	T			CHC801T																					ENST00000429277.2:c.1100+6753C>T		*367*	ENST00000429277	NM_001171610.1			0	not done			
NTRK3		inserm.fr	GRCh37	15	88472586	88472586	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC961T									Valid												ENST00000360948.2:c.1969C>A	p.Leu657Ile	p.L657I	ENST00000360948	NM_001012338.2	657	Ctc/Atc	0	validated		probablydamaging	
THNSL2		inserm.fr	GRCh37	2	88474285	88474285	+	synonymous_variant	Silent	SNP	G	T	T			CHC793T																					ENST00000324166.5:c.351G>T	p.Leu117=	p.L117=	ENST00000324166	NM_018271.4	117	ctG/ctT	0	validated		synonymous	
LDB3		inserm.fr	GRCh37	10	88476273	88476273	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1040T																					ENST00000429277.2:c.1436C>T	p.Ser479Leu	p.S479L	ENST00000429277	NM_001171610.1	479	tCg/tTg	0	not done		probablydamaging	
CEP290		inserm.fr	GRCh37	12	88481710	88481710	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000552810.1:c.4041G>A	p.Trp1347Ter	p.W1347*	ENST00000552810	NM_025114.3	1347	tgG/tgA	0	not done		damaging	
ZNF469		inserm.fr	GRCh37	16	88494743	88494743	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000437464.1:c.865C>T	p.Pro289Ser	p.P289S	ENST00000437464	NM_001127464.1	289	Cct/Tct	0	not done		probablydamaging	
ZNF469		inserm.fr	GRCh37	16	88495350	88495350	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000437464.1:c.1472C>T	p.Ala491Val	p.A491V	ENST00000437464	NM_001127464.1	491	gCc/gTc	0	not done		benign	
ZNF469		inserm.fr	GRCh37	16	88495594	88495594	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000437464.1:c.1716C>T	p.Pro572=	p.P572=	ENST00000437464	NM_001127464.1	572	ccC/ccT	0	not done		synonymous	
ZNF469		inserm.fr	GRCh37	16	88496208	88496208	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2358T																					ENST00000437464.1:c.2330C>T	p.Pro777Leu	p.P777L	ENST00000437464	NM_001127464.1	777	cCc/cTc	0	validated		benign	
ZNF469		inserm.fr	GRCh37	16	88500513	88500513	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1534T																					ENST00000437464.1:c.6551G>T	p.Gly2184Val	p.G2184V	ENST00000437464	NM_001127464.1	2184	gGt/gTt	0	validated		benign	
ZNF469		inserm.fr	GRCh37	16	88500885	88500885	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1186T																					ENST00000437464.1:c.6923G>T	p.Arg2308Leu	p.R2308L	ENST00000437464	NM_001127464.1	2308	cGc/cTc	0	not done		probablydamaging	
ZNF469		inserm.fr	GRCh37	16	88503262	88503262	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000437464.1:c.9300C>T	p.Gly3100=	p.G3100=	ENST00000437464	NM_001127464.1	3100	ggC/ggT	0	validated		synonymous	
NTRK3		inserm.fr	GRCh37	15	88522671	88522671	+	intron_variant	Intron	SNP	G	T	T			CHC432T																					ENST00000360948.2:c.1586-38687C>A		*529*	ENST00000360948	NM_001012338.2			0	not done			
DSPP		inserm.fr	GRCh37	4	88533946	88533946	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM337T																					ENST00000399271.1:c.608C>T	p.Ser203Phe	p.S203F	ENST00000399271	NM_014208.3	203	tCc/tTc	0	validated		benign	
DSPP		inserm.fr	GRCh37	4	88535044	88535044	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000399271.1:c.1230C>T	p.Gly410=	p.G410=	ENST00000399271	NM_014208.3	410	ggC/ggT	0	not done		synonymous	
DSPP		inserm.fr	GRCh37	4	88537444	88537444	+	synonymous_variant	Silent	SNP	C	T	T			CHC1209T																					ENST00000399271.1:c.3630C>T	p.Ser1210=	p.S1210=	ENST00000399271	NM_014208.3	1210	agC/agT	0	not done		synonymous	
TMTC3		inserm.fr	GRCh37	12	88568424	88568424	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM723T																					ENST00000266712.6:c.1240A>T	p.Ile414Leu	p.I414L	ENST00000266712	NM_181783.3	414	Ata/Tta	0	validated		benign	
MED16		inserm.fr	GRCh37	19	885802	885802	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC326T																					ENST00000325464.1:c.847C>A	p.Leu283Ile	p.L283I	ENST00000325464	NM_005481.2	283	Ctc/Atc	0	validated		benign	
TMTC3		inserm.fr	GRCh37	12	88586594	88586594	+	synonymous_variant	Silent	SNP	A	T	T			CHC1035T																					ENST00000266712.6:c.1920A>T	p.Val640=	p.V640=	ENST00000266712	NM_181783.3	640	gtA/gtT	0	validated		synonymous	
ZFPM1		inserm.fr	GRCh37	16	88600007	88600007	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000319555.3:c.1641C>T	p.Ser547=	p.S547=	ENST00000319555	NM_153813.2	547	tcC/tcT	0	validated		synonymous	
ZFPM1		inserm.fr	GRCh37	16	88600037	88600037	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000319555.3:c.1671C>T	p.Gly557=	p.G557=	ENST00000319555	NM_153813.2	557	ggC/ggT	0	validated		synonymous	
ZFPM1		inserm.fr	GRCh37	16	88600155	88600155	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T									Valid												ENST00000319555.3:c.1789C>T	p.Arg597Cys	p.R597C	ENST00000319555	NM_153813.2	597	Cgc/Tgc	0	validated		probablydamaging	
GOLM1		inserm.fr	GRCh37	9	88642739	88642739	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1035T									Valid												ENST00000388712.3:c.1199C>A	p.Thr400Lys	p.T400K	ENST00000388712	NM_016548.3	400	aCa/aAa	0	validated		probablydamaging	
NTRK3		inserm.fr	GRCh37	15	88671951	88671951	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1715T																					ENST00000360948.2:c.1219T>A	p.Phe407Ile	p.F407I	ENST00000360948	NM_001012338.2	407	Ttt/Att	0	not done		benign	
ZC3H18		inserm.fr	GRCh37	16	88677838	88677838	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1154T																					ENST00000301011.5:c.1369C>T	p.Arg457Ter	p.R457*	ENST00000301011	NM_144604.3	457	Cga/Tga	0	not done		damaging	
GOLM1		inserm.fr	GRCh37	9	88692452	88692452	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2206T																					ENST00000388712.3:c.184G>A	p.Ala62Thr	p.A62T	ENST00000388712	NM_016548.3	62	Gcc/Acc	0	not done		probablydamaging	
CYBA		inserm.fr	GRCh37	16	88717418	88717418	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261623.3:c.4G>A	p.Gly2Arg	p.G2R	ENST00000261623	NM_000101.3	2	Ggg/Agg	0	not done		probablydamaging	
MVD		inserm.fr	GRCh37	16	88719009	88719009	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC898T																					ENST00000301012.3:c.1127G>A	p.Gly376Glu	p.G376E	ENST00000301012	NM_002461.1	376	gGg/gAg	0	not done		probablydamaging	
IBSP		inserm.fr	GRCh37	4	88732897	88732897	+	synonymous_variant	Silent	SNP	C	T	T			CHC902T																					ENST00000226284.5:c.789C>T	p.Tyr263=	p.Y263=	ENST00000226284	NM_004967.3	263	taC/taT	0	not done		synonymous	
MEPE		inserm.fr	GRCh37	4	88766489	88766489	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC879T																					ENST00000424957.3:c.469C>T	p.Pro157Ser	p.P157S	ENST00000424957	NM_001184694.1	157	Cca/Tca	0	not done		probablydamaging	
MEPE		inserm.fr	GRCh37	4	88767154	88767154	+	synonymous_variant	Silent	SNP	C	T	T			CHC798T																					ENST00000424957.3:c.1134C>T	p.Pro378=	p.P378=	ENST00000424957	NM_001184694.1	378	ccC/ccT	0	validated		synonymous	
KIDINS220		inserm.fr	GRCh37	2	8877081	8877081	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2208T																					ENST00000256707.3:c.3634G>A	p.Val1212Met	p.V1212M	ENST00000256707	NM_020738.2	1212	Gtg/Atg	0	not done		possiblydamaging	
CNR1		inserm.fr	GRCh37	6	88853728	88853728	+	synonymous_variant	Silent	SNP	C	T	T			CHC1207T																					ENST00000537554.1:c.1266G>A	p.Leu422=	p.L422=	ENST00000537554	NM_001160258.1	422	ctG/ctA	0	not done		synonymous	
ERI1		inserm.fr	GRCh37	8	8887443	8887443	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC2115T																					ENST00000523898.1:c.949C>T	p.Arg317Ter	p.R317*	ENST00000523898		317	Cga/Tga	0	not done		damaging	
DCAF4L2		inserm.fr	GRCh37	8	88885952	88885952	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC155T																					ENST00000319675.3:c.248C>A	p.Thr83Asn	p.T83N	ENST00000319675	NM_152418.3	83	aCt/aAt	0	validated		benign	
EIF2AK3		inserm.fr	GRCh37	2	88892898	88892898	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000303236.3:c.659G>A	p.Gly220Asp	p.G220D	ENST00000303236	NM_004836.5	220	gGt/gAt	0	not done		probablydamaging	
EIF2AK3		inserm.fr	GRCh37	2	88913342	88913342	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000303236.3:c.338G>A	p.Gly113Glu	p.G113E	ENST00000303236	NM_004836.5	113	gGg/gAg	0	not done		probablydamaging	
TRAPPC2L		inserm.fr	GRCh37	16	88923576	88923576	+	synonymous_variant	Silent	SNP	G	T	T			CHC614T																					ENST00000301021.3:c.18G>T	p.Ala6=	p.A6=	ENST00000301021		6	gcG/gcT	0	validated		synonymous	
TYR		inserm.fr	GRCh37	11	88924472	88924472	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC1183T																					ENST00000263321.5:c.922A>T	p.Arg308Ter	p.R308*	ENST00000263321	NM_000372.4	308	Aga/Tga	0	not done		damaging	
TYR		inserm.fr	GRCh37	11	88924536	88924536	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000263321.5:c.986C>T	p.Ser329Phe	p.S329F	ENST00000263321	NM_000372.4	329	tCt/tTt	0	not done		possiblydamaging	
CBFA2T3		inserm.fr	GRCh37	16	88949154	88949154	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC961T																					ENST00000268679.4:c.1133G>A	p.Arg378Gln	p.R378Q	ENST00000268679	NM_005187.5	378	cGg/cAg	0	validated		benign	
ZNF804B		inserm.fr	GRCh37	7	88962863	88962863	+	synonymous_variant	Silent	SNP	C	T	T			BCB307T																					ENST00000333190.4:c.567C>T	p.His189=	p.H189=	ENST00000333190	NM_181646.2	189	caC/caT	0	validated		synonymous	
ZNF804B		inserm.fr	GRCh37	7	88963394	88963394	+	synonymous_variant	Silent	SNP	C	T	T			CHC1751T																					ENST00000333190.4:c.1098C>T	p.Ser366=	p.S366=	ENST00000333190	NM_181646.2	366	tcC/tcT	0	not done		synonymous	
ZNF804B		inserm.fr	GRCh37	7	88965016	88965016	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000333190.4:c.2720C>T	p.Pro907Leu	p.P907L	ENST00000333190	NM_181646.2	907	cCt/cTt	0	not done		benign	
ZNF804B		inserm.fr	GRCh37	7	88965341	88965341	+	synonymous_variant	Silent	SNP	A	T	T			CHC320T																					ENST00000333190.4:c.3045A>T	p.Thr1015=	p.T1015=	ENST00000333190	NM_181646.2	1015	acA/acT	0	validated		synonymous	
CBFA2T3		inserm.fr	GRCh37	16	88967976	88967976	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000268679.4:c.240G>A	p.Met80Ile	p.M80I	ENST00000268679	NM_005187.5	80	atG/atA	0	not done		possiblydamaging	
PKD2		inserm.fr	GRCh37	4	88979224	88979224	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1566T																					ENST00000237596.2:c.1988C>T	p.Thr663Ile	p.T663I	ENST00000237596	NM_000297.3	663	aCa/aTa	0	not done		probablydamaging	
PKD2		inserm.fr	GRCh37	4	88983119	88983119	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC051T									Valid												ENST00000237596.2:c.2081A>T	p.Gln694Leu	p.Q694L	ENST00000237596	NM_000297.3	694	cAg/cTg	0	validated		possiblydamaging	
PKD2		inserm.fr	GRCh37	4	88996757	88996757	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000237596.2:c.2818C>T	p.Arg940Cys	p.R940C	ENST00000237596	NM_000297.3	940	Cgc/Tgc	0	validated		probablydamaging	
MRPS11		inserm.fr	GRCh37	15	89018470	89018470	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	T	T			CHC801T																					ENST00000325844.4:c.411G>T	p.Ala137=	p.A137=	ENST00000325844	NM_022839.3	137	gcG/gcT	0	not done		possiblydamaging	
CBFA2T3		inserm.fr	GRCh37	16	89043188	89043188	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000268679.4:c.28G>A	p.Ala10Thr	p.A10T	ENST00000268679	NM_005187.5	10	Gca/Aca	0	not done		benign	
MMP16		inserm.fr	GRCh37	8	89053884	89053884	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM339T																					ENST00000286614.6:c.1629C>A	p.His543Gln	p.H543Q	ENST00000286614	NM_005941.4	543	caC/caA	0	validated		probablydamaging	
ABCG2		inserm.fr	GRCh37	4	89061084	89061084	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1205T																					ENST00000237612.3:c.64G>A	p.Ala22Thr	p.A22T	ENST00000237612	NM_004827.2	22	Gcg/Acg	0	not done		benign	
EML5		inserm.fr	GRCh37	14	89148282	89148282	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000554922.1:c.3076G>A	p.Asp1026Asn	p.D1026N	ENST00000554922	NM_183387.2	1026	Gat/Aat	0	not done		probablydamaging	
EPHA3		inserm.fr	GRCh37	3	89176412	89176412	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1545T																					ENST00000336596.2:c.142C>T	p.Pro48Ser	p.P48S	ENST00000336596	NM_005233.5	48	Cca/Tca	0	validated		probablydamaging	
TGIF2LX		inserm.fr	GRCh37	X	89177164	89177164	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000561129.2:c.80C>T	p.Ala27Val	p.A27V	ENST00000561129		27	gCc/gTc	0	not done		possiblydamaging	
BRD9		inserm.fr	GRCh37	5	891876	891876	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1742T																					ENST00000467963.1:c.146C>A	p.Ser49Tyr	p.S49Y	ENST00000467963	NM_023924.4	49	tCc/tAc	0	not done		probablydamaging	
KIDINS220		inserm.fr	GRCh37	2	8919071	8919071	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000256707.3:c.2569G>A	p.Val857Ile	p.V857I	ENST00000256707	NM_020738.2	857	Gta/Ata	0	not done		benign	
EML5		inserm.fr	GRCh37	14	89193022	89193022	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC892T																					ENST00000554922.1:c.1050G>A	p.Arg350=	p.R350=	ENST00000554922	NM_183387.2	350	agG/agA	0	not done		damaging	
MMP16		inserm.fr	GRCh37	8	89198815	89198815	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000286614.6:c.294G>A	p.Lys98=	p.K98=	ENST00000286614	NM_005941.4	98	aaG/aaA	0	not done		synonymous	
EML5		inserm.fr	GRCh37	14	89220980	89220980	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC896T																					ENST00000554922.1:c.233C>A	p.Thr78Lys	p.T78K	ENST00000554922	NM_183387.2	78	aCa/aAa	0	not done		probablydamaging	
CDH15		inserm.fr	GRCh37	16	89245965	89245965	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000289746.2:c.184C>T	p.Pro62Ser	p.P62S	ENST00000289746	NM_004933.2	62	Ccc/Tcc	0	not done		probablydamaging	
SLC22A31		inserm.fr	GRCh37	16	89263778	89263778	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000562855.2:c.1292G>A	p.Gly431Glu	p.G431E	ENST00000562855		431	gGg/gAg	0	not done			
ZNF778		inserm.fr	GRCh37	16	89294606	89294606	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1186T																					ENST00000433976.2:c.1826G>T	p.Arg609Ile	p.R609I	ENST00000433976	NM_001201407.1	609	aGa/aTa	0	not done		probablydamaging	
TTC8		inserm.fr	GRCh37	14	89305822	89305822	+	synonymous_variant	Silent	SNP	G	T	T			CHC1744T																					ENST00000380656.2:c.171G>T	p.Ala57=	p.A57=	ENST00000380656	NM_144596.2	57	gcG/gcT	0	not done		synonymous	
ACAN		inserm.fr	GRCh37	15	89388812	89388812	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000439576.2:c.1128C>T	p.Thr376=	p.T376=	ENST00000439576	NM_013227.3	376	acC/acT	0	not done		synonymous	
ACAN		inserm.fr	GRCh37	15	89402495	89402495	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000439576.2:c.6679C>T	p.Gln2227Ter	p.Q2227*	ENST00000439576	NM_013227.3	2227	Cag/Tag	0	not done		damaging	
ACAN		inserm.fr	GRCh37	15	89414685	89414685	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000439576.2:c.7019C>T	p.Thr2340Ile	p.T2340I	ENST00000439576	NM_013227.3	2340	aCc/aTc	0	not done		probablydamaging	
HAPLN3		inserm.fr	GRCh37	15	89424668	89424668	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC097T																					ENST00000359595.3:c.413T>A	p.Leu138Gln	p.L138Q	ENST00000359595	NM_178232.2	138	cTg/cAg	0	not done		probablydamaging	
C11orf16		inserm.fr	GRCh37	11	8942964	8942964	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM375T									Valid												ENST00000326053.5:c.1303G>A	p.Ala435Thr	p.A435T	ENST00000326053	NM_020643.2	435	Gca/Aca	0	validated		possiblydamaging	
FOLH1B		inserm.fr	GRCh37	11	89429877	89429877	+	non_coding_transcript_exon_variant	RNA	SNP	G	T	T			CHC121T																					ENST00000525540.1:n.1649G>T		*550*	ENST00000525540				0	validated		benign	
MFGE8		inserm.fr	GRCh37	15	89442931	89442931	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1209T																					ENST00000268150.8:c.982G>A	p.Ala328Thr	p.A328T	ENST00000268150	NM_005928.2	328	Gcg/Acg	0	not done		benign	
C11orf16		inserm.fr	GRCh37	11	8951076	8951076	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000326053.5:c.172G>A	p.Ala58Thr	p.A58T	ENST00000326053	NM_020643.2	58	Gcc/Acc	0	validated		benign	
EPHA3		inserm.fr	GRCh37	3	89528621	89528621	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2099T																					ENST00000336596.2:c.2921C>T	p.Thr974Met	p.T974M	ENST00000336596	NM_005233.5	974	aCg/aTg	0	not done		benign	
ASCL3		inserm.fr	GRCh37	11	8959456	8959456	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM375T																					ENST00000325884.1:c.253G>A	p.Gly85Arg	p.G85R	ENST00000325884	NM_020646.1	85	Ggg/Agg	0	validated		benign	
KLLN		inserm.fr	GRCh37	10	89621845	89621845	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1746T																					ENST00000445946.3:c.400C>A	p.His134Asn	p.H134N	ENST00000445946	NM_001126049.1	134	Cac/Aac	0	not done		probablydamaging	
PTEN		inserm.fr	GRCh37	10	89624270	89624270	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1183T																					ENST00000371953.3:c.44G>T	p.Arg15Ile	p.R15I	ENST00000371953	NM_000314.4	15	aGa/aTa	0	not done		possiblydamaging	
HERC3		inserm.fr	GRCh37	4	89627996	89627996	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC793T									Valid												ENST00000402738.1:c.3038C>T	p.Pro1013Leu	p.P1013L	ENST00000402738	NM_014606.2	1013	cCg/cTg	0	validated		probablydamaging	
FOXN3		inserm.fr	GRCh37	14	89628792	89628792	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000345097.4:c.1439G>A	p.Gly480Glu	p.G480E	ENST00000345097	NM_001085471.1	480	gGg/gAg	0	not done		probablydamaging	
RNGTT		inserm.fr	GRCh37	6	89650832	89650832	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000369485.4:c.132G>A	p.Arg44=	p.R44=	ENST00000369485	NM_003800.3	44	cgG/cgA	0	not done		synonymous	
FAM13A		inserm.fr	GRCh37	4	89671710	89671710	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000264344.5:c.1805G>A	p.Arg602His	p.R602H	ENST00000264344	NM_014883.3	602	cGc/cAc	0	validated		probablydamaging	
PTEN		inserm.fr	GRCh37	10	89692969	89692969	+	synonymous_variant	Silent	SNP	C	T	T			CHC1598T																					ENST00000371953.3:c.453C>T	p.Ala151=	p.A151=	ENST00000371953	NM_000314.4	151	gcC/gcT	0	not done		synonymous	
C16orf55		inserm.fr	GRCh37	16	89724239	89724239	+	synonymous_variant	Silent	SNP	C	T	T			CHC736T																					ENST00000301031.4:c.30C>T	p.Thr10=	p.T10=	ENST00000301031	NM_001271908.1	10	acC/acT	0	validated		synonymous	
MUC16		inserm.fr	GRCh37	19	8973563	8973563	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000397910.4:c.42753G>A	p.Leu14251=	p.L14251=	ENST00000397910	NM_024690.2	14251	ctG/ctA	0	not done		synonymous	
MUC16		inserm.fr	GRCh37	19	8974013	8974013	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1600T																					ENST00000397910.4:c.42658T>A	p.Ser14220Thr	p.S14220T	ENST00000397910	NM_024690.2	14220	Tcc/Acc	0	not done		possiblydamaging	
MBLAC2		inserm.fr	GRCh37	5	89770058	89770058	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM617T																					ENST00000316610.6:c.52T>A	p.Trp18Arg	p.W18R	ENST00000316610	NM_203406.1	18	Tgg/Agg	0	validated		benign	
FANCA		inserm.fr	GRCh37	16	89805318	89805318	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1207T																					ENST00000389301.3:c.4232C>A	p.Pro1411Gln	p.P1411Q	ENST00000389301	NM_000135.2	1411	cCg/cAg	0	not done		possiblydamaging	
FANCA		inserm.fr	GRCh37	16	89836401	89836401	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000389301.3:c.2348G>A	p.Gly783Glu	p.G783E	ENST00000389301	NM_000135.2	783	gGg/gAg	0	not done		probablydamaging	
FANCI		inserm.fr	GRCh37	15	89857936	89857936	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	T	T			CHC1700T																					ENST00000310775.7:c.3814A>T	p.Lys1272Ter	p.K1272*	ENST00000310775	NM_001113378.1	1272	Aag/Tag	0	not done		damaging	
FANCA		inserm.fr	GRCh37	16	89871793	89871793	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM325T																					ENST00000389301.3:c.604G>A	p.Asp202Asn	p.D202N	ENST00000389301	NM_000135.2	202	Gac/Aac	0	validated		probablydamaging	
POLG		inserm.fr	GRCh37	15	89876919	89876919	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000268124.5:c.67G>A	p.Gly23Arg	p.G23R	ENST00000268124	NM_001126131.1	23	Ggg/Agg	0	not done		benign	
C7orf63		inserm.fr	GRCh37	7	89906389	89906389	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	T	T			CHC1183T																					ENST00000389297.4:c.987A>T	p.Glu329Asp	p.E329D	ENST00000389297	NM_001039706.2	329	gaA/gaT	0	not done		probablydamaging	
SPIRE2		inserm.fr	GRCh37	16	89911756	89911756	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC320T																					ENST00000378247.3:c.271G>T	p.Ala91Ser	p.A91S	ENST00000378247	NM_032451.1	91	Gcc/Tcc	0	validated		benign	
GALNT4		inserm.fr	GRCh37	12	89917624	89917624	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000529983.2:c.703G>A	p.Gly235Ser	p.G235S	ENST00000529983	NM_003774.4	235	Ggt/Agt	0	not done		probablydamaging	
GALNT4		inserm.fr	GRCh37	12	89918215	89918215	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM423T																					ENST00000529983.2:c.112G>A	p.Ala38Thr	p.A38T	ENST00000529983	NM_003774.4	38	Gcc/Acc	0	validated		benign	
CHORDC1		inserm.fr	GRCh37	11	89944484	89944484	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC2127T																					ENST00000320585.6:c.332C>A	p.Pro111Gln	p.P111Q	ENST00000320585	NM_012124.2	111	cCa/cAa	0	validated		benign	
CHORDC1		inserm.fr	GRCh37	11	89948386	89948386	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1061T									Valid												ENST00000320585.6:c.127T>A	p.Cys43Ser	p.C43S	ENST00000320585	NM_012124.2	43	Tgt/Agt	0	validated		probablydamaging	
GPR98		inserm.fr	GRCh37	5	89949040	89949040	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2211T																					ENST00000405460.2:c.3649C>T	p.Pro1217Ser	p.P1217S	ENST00000405460	NM_032119.3	1217	Cct/Tct	0	not done		possiblydamaging	
GPR98		inserm.fr	GRCh37	5	89949561	89949561	+	synonymous_variant	Silent	SNP	C	T	T			CHC2110Tbis																					ENST00000405460.2:c.4170C>T	p.Asn1390=	p.N1390=	ENST00000405460	NM_032119.3	1390	aaC/aaT	0	not done		synonymous	
GABRR2		inserm.fr	GRCh37	6	89967599	89967599	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1725T																					ENST00000402938.3:c.1188T>A	p.His396Gln	p.H396Q	ENST00000402938	NM_002043.3	396	caT/caA	0	not done		benign	
GPR98		inserm.fr	GRCh37	5	89971075	89971075	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000405460.2:c.5126C>T	p.Ser1709Phe	p.S1709F	ENST00000405460	NM_032119.3	1709	tCc/tTc	0	not done		probablydamaging	
GPR98		inserm.fr	GRCh37	5	89990316	89990316	+	synonymous_variant	Silent	SNP	G	T	T			CHC1725T																					ENST00000405460.2:c.7743G>T	p.Val2581=	p.V2581=	ENST00000405460	NM_032119.3	2581	gtG/gtT	0	not done		synonymous	
FAM9B		inserm.fr	GRCh37	X	9001072	9001072	+	5_prime_UTR_variant	5'UTR	SNP	G	T	T			CHC1704T																					ENST00000327220.5:c.-45C>A		*15*	ENST00000327220				0	not done		synonymous	
GPR98		inserm.fr	GRCh37	5	90015949	90015949	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1035T									Valid												ENST00000405460.2:c.9532G>T	p.Ala3178Ser	p.A3178S	ENST00000405460	NM_032119.3	3178	Gct/Tct	0	validated		probablydamaging	
LRRC8B		inserm.fr	GRCh37	1	90048389	90048389	+	synonymous_variant	Silent	SNP	G	T	T			CHC1065T																					ENST00000330947.2:c.180G>T	p.Val60=	p.V60=	ENST00000330947	NM_001134476.1	60	gtG/gtT	0	validated		synonymous	
LRRC8B		inserm.fr	GRCh37	1	90048557	90048557	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1604T																					ENST00000330947.2:c.348G>T	p.Trp116Cys	p.W116C	ENST00000330947	NM_001134476.1	116	tgG/tgT	0	not done		probablydamaging	
GPR98		inserm.fr	GRCh37	5	90072365	90072365	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2103T																					ENST00000405460.2:c.12499G>T	p.Ala4167Ser	p.A4167S	ENST00000405460	NM_032119.3	4167	Gca/Tca	0	not done		benign	
MUC16		inserm.fr	GRCh37	19	9007529	9007529	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM735T																					ENST00000397910.4:c.39439C>A	p.Leu13147Ile	p.L13147I	ENST00000397910	NM_024690.2	13147	Ctt/Att	0	validated		probablydamaging	
MUC16		inserm.fr	GRCh37	19	9008346	9008346	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC155T									Valid												ENST00000397910.4:c.39207-1G>A		p.X13069_splice	ENST00000397910	NM_024690.2			0	validated		damaging	
GPR98		inserm.fr	GRCh37	5	90086896	90086896	+	synonymous_variant	Silent	SNP	A	T	T			CHC155T																					ENST00000405460.2:c.14250A>T	p.Thr4750=	p.T4750=	ENST00000405460	NM_032119.3	4750	acA/acT	0	validated		synonymous	
MUC16		inserm.fr	GRCh37	19	9011360	9011360	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000397910.4:c.38873G>A	p.Gly12958Asp	p.G12958D	ENST00000397910	NM_024690.2	12958	gGc/gAc	0	not done		possiblydamaging	
KIF7		inserm.fr	GRCh37	15	90171787	90171787	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1629T																					ENST00000394412.3:c.3895G>A	p.Ala1299Thr	p.A1299T	ENST00000394412	NM_198525.2	1299	Gct/Act	0	not done		benign	
USP7		inserm.fr	GRCh37	16	9017214	9017214	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1742T																					ENST00000344836.4:c.241C>A	p.Leu81Met	p.L81M	ENST00000344836	NM_003470.2	81	Ctg/Atg	0	not done		possiblydamaging	
LRRC8C		inserm.fr	GRCh37	1	90178812	90178812	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2141T																					ENST00000370454.4:c.683G>T	p.Gly228Val	p.G228V	ENST00000370454	NM_032270.4	228	gGg/gTg	0	not done		possiblydamaging	
LRRC8C		inserm.fr	GRCh37	1	90180375	90180375	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1079T																					ENST00000370454.4:c.2246G>T	p.Gly749Val	p.G749V	ENST00000370454	NM_032270.4	749	gGa/gTa	0	not done		possiblydamaging	
KIF7		inserm.fr	GRCh37	15	90190262	90190262	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000394412.3:c.1587G>A	p.Glu529=	p.E529=	ENST00000394412	NM_198525.2	529	gaG/gaA	0	not done		synonymous	
PLIN1		inserm.fr	GRCh37	15	90211005	90211005	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000300055.5:c.791G>A	p.Gly264Asp	p.G264D	ENST00000300055	NM_002666.4	264	gGt/gAt	0	not done		probablydamaging	
PLIN1		inserm.fr	GRCh37	15	90214764	90214764	+	synonymous_variant	Silent	SNP	G	T	T			CHC2208T																					ENST00000300055.5:c.282C>A	p.Gly94=	p.G94=	ENST00000300055	NM_002666.4	94	ggC/ggA	0	validated		synonymous	
DAPK1		inserm.fr	GRCh37	9	90256957	90256957	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000408954.3:c.902C>T	p.Ala301Val	p.A301V	ENST00000408954	NM_004938.2	301	gCc/gTc	0	not done		probablydamaging	
WDR93		inserm.fr	GRCh37	15	90272319	90272319	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1592T																					ENST00000268130.7:c.1118C>T	p.Pro373Leu	p.P373L	ENST00000268130	NM_020212.1	373	cCc/cTc	0	not done		probablydamaging	
WDR93		inserm.fr	GRCh37	15	90274757	90274757	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM567T																					ENST00000268130.7:c.1294G>T	p.Glu432Ter	p.E432*	ENST00000268130	NM_020212.1	432	Gag/Tag	0	validated		damaging	
MESP2		inserm.fr	GRCh37	15	90319800	90319800	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000341735.3:c.212C>T	p.Pro71Leu	p.P71L	ENST00000341735	NM_001039958.1	71	cCc/cTc	0	not done		benign	
MESP2		inserm.fr	GRCh37	15	90321492	90321492	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000341735.3:c.1121G>T	p.Gly374Val	p.G374V	ENST00000341735	NM_001039958.1	374	gGc/gTc	0	not done		possiblydamaging	
SRGAP3		inserm.fr	GRCh37	3	9036080	9036080	+	synonymous_variant	Silent	SNP	C	T	T			CHC1754T																					ENST00000383836.3:c.2355G>A	p.Arg785=	p.R785=	ENST00000383836	NM_014850.3	785	cgG/cgA	0	not done		synonymous	
MDN1		inserm.fr	GRCh37	6	90410458	90410458	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1611T																					ENST00000369393.3:c.8545C>A	p.Gln2849Lys	p.Q2849K	ENST00000369393		2849	Caa/Aaa	0	not done		benign	
SEMA5A		inserm.fr	GRCh37	5	9044612	9044612	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC794T																					ENST00000382496.5:c.2978G>A	p.Cys993Tyr	p.C993Y	ENST00000382496	NM_003966.2	993	tGc/tAc	0	validated		possiblydamaging	
C15orf38		inserm.fr	GRCh37	15	90446603	90446603	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000357484.5:c.517G>A	p.Ala173Thr	p.A173T	ENST00000357484	NM_182616.2	173	Gcc/Acc	0	not done		probablydamaging	
C15orf38		inserm.fr	GRCh37	15	90447138	90447138	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC258T																					ENST00000357484.5:c.379G>A	p.Ala127Thr	p.A127T	ENST00000357484	NM_182616.2	127	Gcg/Acg	0	validated		benign	
MDN1		inserm.fr	GRCh37	6	90448061	90448061	+	synonymous_variant	Silent	SNP	G	T	T			BCM423T																					ENST00000369393.3:c.4707C>A	p.Gly1569=	p.G1569=	ENST00000369393		1569	ggC/ggA	0	validated		synonymous	
MDN1		inserm.fr	GRCh37	6	90450046	90450046	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000369393.3:c.4500G>A	p.Glu1500=	p.E1500=	ENST00000369393		1500	gaG/gaA	0	not done		synonymous	
CHID1		inserm.fr	GRCh37	11	904715	904715	+	synonymous_variant	Silent	SNP	C	T	T			CHC1717T																					ENST00000454838.2:c.102G>A	p.Leu34=	p.L34=	ENST00000454838	NM_001142676.1	34	ctG/ctA	0	not done		synonymous	
MDN1		inserm.fr	GRCh37	6	90482398	90482398	+	synonymous_variant	Silent	SNP	G	T	T			CHC1747T																					ENST00000369393.3:c.1977C>A	p.Leu659=	p.L659=	ENST00000369393		659	ctC/ctA	0	not done		synonymous	
MDN1		inserm.fr	GRCh37	6	90484383	90484383	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1602T																					ENST00000369393.3:c.1891G>A	p.Val631Met	p.V631M	ENST00000369393		631	Gtg/Atg	0	not done		probablydamaging	
MUC16		inserm.fr	GRCh37	19	9048459	9048459	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2034T																					ENST00000397910.4:c.33172C>A	p.Pro11058Thr	p.P11058T	ENST00000397910	NM_024690.2	11058	Cca/Aca	0	not done		possiblydamaging	
SPATA31E1		inserm.fr	GRCh37	9	90498961	90498961	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1053T																					ENST00000325643.5:c.364G>T	p.Ala122Ser	p.A122S	ENST00000325643	NM_178828.4	122	Gct/Tct	0	validated		probablydamaging	
SPATA31E1		inserm.fr	GRCh37	9	90500847	90500847	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000325643.5:c.1445C>T	p.Pro482Leu	p.P482L	ENST00000325643	NM_178828.4	482	cCt/cTt	0	not done		benign	
SPATA31E1		inserm.fr	GRCh37	9	90501303	90501303	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1717T																					ENST00000325643.5:c.1901C>T	p.Ala634Val	p.A634V	ENST00000325643	NM_178828.4	634	gCc/gTc	0	not done		benign	
SPATA31E1		inserm.fr	GRCh37	9	90501719	90501719	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB157T																					ENST00000325643.5:c.2317G>T	p.Val773Leu	p.V773L	ENST00000325643	NM_178828.4	773	Gta/Tta	0	validated		benign	
MUC16		inserm.fr	GRCh37	19	9054270	9054270	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000397910.4:c.31352G>A	p.Gly10451Asp	p.G10451D	ENST00000397910	NM_024690.2	10451	gGc/gAc	0	not done		benign	
SEMA5A		inserm.fr	GRCh37	5	9054285	9054285	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000382496.5:c.2603G>A	p.Cys868Tyr	p.C868Y	ENST00000382496	NM_003966.2	868	tGc/tAc	0	not done		probablydamaging	
CDK20		inserm.fr	GRCh37	9	90582482	90582482	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000325303.8:c.936G>A	p.Lys312=	p.K312=	ENST00000325303	NM_001039803.2	312	aaG/aaA	0	not done		synonymous	
MUC16		inserm.fr	GRCh37	19	9060790	9060790	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC892T																					ENST00000397910.4:c.26656C>A	p.Leu8886Ile	p.L8886I	ENST00000397910	NM_024690.2	8886	Ctt/Att	0	not done		benign	
MUC16		inserm.fr	GRCh37	19	9060992	9060992	+	synonymous_variant	Silent	SNP	A	T	T			CHC1137T																					ENST00000397910.4:c.26454T>A	p.Ala8818=	p.A8818=	ENST00000397910	NM_024690.2	8818	gcT/gcA	0	not done		synonymous	
SEMA5A		inserm.fr	GRCh37	5	9063034	9063034	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC432T																					ENST00000382496.5:c.2483T>A	p.Leu828Gln	p.L828Q	ENST00000382496	NM_003966.2	828	cTg/cAg	0	not done		benign	
MUC16		inserm.fr	GRCh37	19	9065370	9065370	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1534T																					ENST00000397910.4:c.22076C>A	p.Thr7359Asn	p.T7359N	ENST00000397910	NM_024690.2	7359	aCt/aAt	0	validated		possiblydamaging	
MUC16		inserm.fr	GRCh37	19	9066263	9066263	+	synonymous_variant	Silent	SNP	A	T	T			CHC1211T																					ENST00000397910.4:c.21183T>A	p.Thr7061=	p.T7061=	ENST00000397910	NM_024690.2	7061	acT/acA	0	not done		synonymous	
STAMBPL1		inserm.fr	GRCh37	10	90665347	90665347	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC121T									Valid												ENST00000371926.3:c.178A>T	p.Arg60Trp	p.R60W	ENST00000371926	NM_020799.3	60	Agg/Tgg	0	validated		probablydamaging	
PABPC5		inserm.fr	GRCh37	X	90691081	90691081	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000312600.3:c.505C>T	p.Arg169Trp	p.R169W	ENST00000312600	NM_080832.2	169	Cgg/Tgg	0	not done		benign	
PABPC5		inserm.fr	GRCh37	X	90691511	90691511	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1611T																					ENST00000312600.3:c.935C>T	p.Thr312Ile	p.T312I	ENST00000312600	NM_080832.2	312	aCa/aTa	0	not done		probablydamaging	
MUC16		inserm.fr	GRCh37	19	9069193	9069193	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM711T																					ENST00000397910.4:c.18253C>A	p.Leu6085Met	p.L6085M	ENST00000397910	NM_024690.2	6085	Ctg/Atg	0	validated		probablydamaging	
MUC16		inserm.fr	GRCh37	19	9070293	9070293	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB231T																					ENST00000397910.4:c.17153C>A	p.Thr5718Asn	p.T5718N	ENST00000397910	NM_024690.2	5718	aCt/aAt	0	validated		probablydamaging	
ACTA2		inserm.fr	GRCh37	10	90708681	90708681	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1082T																					ENST00000458208.1:c.7G>A	p.Glu3Lys	p.E3K	ENST00000458208	NM_001141945.1	3	Gaa/Aaa	0	validated		benign	
MUC16		inserm.fr	GRCh37	19	9071248	9071248	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM257T																					ENST00000397910.4:c.16198C>A	p.His5400Asn	p.H5400N	ENST00000397910	NM_024690.2	5400	Cat/Aat	0	validated		benign	
NRDE2		inserm.fr	GRCh37	14	90744711	90744711	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2098T																					ENST00000354366.3:c.3464T>A	p.Leu1155Gln	p.L1155Q	ENST00000354366	NM_017970.3	1155	cTg/cAg	0	not done		possiblydamaging	
SCUBE2		inserm.fr	GRCh37	11	9075219	9075219	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000520467.1:c.1295G>A	p.Gly432Glu	p.G432E	ENST00000520467	NM_020974.2	432	gGg/gAg	0	not done		benign	
ADCYAP1		inserm.fr	GRCh37	18	907670	907670	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM617T																					ENST00000579794.1:c.121G>T	p.Glu41Ter	p.E41*	ENST00000579794	NM_001117.4	41	Gag/Tag	0	validated		damaging	
SCUBE2		inserm.fr	GRCh37	11	9082042	9082042	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1192T																					ENST00000520467.1:c.880G>A	p.Asp294Asn	p.D294N	ENST00000520467	NM_020974.2	294	Gac/Aac	0	not done		possiblydamaging	
MMRN1		inserm.fr	GRCh37	4	90830518	90830518	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM545T																					ENST00000394980.1:c.715G>T	p.Gly239Cys	p.G239C	ENST00000394980		239	Ggc/Tgc	0	validated		probablydamaging	
MUC16		inserm.fr	GRCh37	19	9084082	9084082	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1712T																					ENST00000397910.4:c.7733C>A	p.Pro2578Gln	p.P2578Q	ENST00000397910	NM_024690.2	2578	cCa/cAa	0	not done		probablydamaging	
MUC16		inserm.fr	GRCh37	19	9084083	9084083	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1712T																					ENST00000397910.4:c.7732C>A	p.Pro2578Thr	p.P2578T	ENST00000397910	NM_024690.2	2578	Cca/Aca	0	not done		probablydamaging	
MMRN1		inserm.fr	GRCh37	4	90857545	90857545	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB307T									Valid												ENST00000394980.1:c.2714C>T	p.Ala905Val	p.A905V	ENST00000394980		905	gCg/gTg	0	validated		probablydamaging	
MMRN1		inserm.fr	GRCh37	4	90874208	90874208	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC302T									Valid												ENST00000394980.1:c.3326A>T	p.Tyr1109Phe	p.Y1109F	ENST00000394980		1109	tAt/tTt	0	validated		probablydamaging	
MUC16		inserm.fr	GRCh37	19	9087838	9087838	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1568T																					ENST00000397910.4:c.3977C>A	p.Thr1326Asn	p.T1326N	ENST00000397910	NM_024690.2	1326	aCc/aAc	0	not done		possiblydamaging	
PHC1		inserm.fr	GRCh37	12	9089861	9089861	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1603T																					ENST00000543824.1:c.2567G>T	p.Arg856Leu	p.R856L	ENST00000543824		856	cGt/cTt	0	not done		probablydamaging	
OSGIN2		inserm.fr	GRCh37	8	90915035	90915035	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2202T																					ENST00000451899.2:c.14G>T	p.Cys5Phe	p.C5F	ENST00000451899	NM_001126111.1	5	tGc/tTc	0	validated		possiblydamaging	
MUC16		inserm.fr	GRCh37	19	9091668	9091668	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000397910.4:c.147G>A	p.Val49=	p.V49=	ENST00000397910	NM_024690.2	49	gtG/gtA	0	not done		synonymous	
CH25H		inserm.fr	GRCh37	10	90966729	90966729	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371852.2:c.321G>A	p.Trp107Ter	p.W107*	ENST00000371852	NM_003956.3	107	tgG/tgA	0	not done		damaging	
IQGAP1		inserm.fr	GRCh37	15	90969479	90969479	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC609T																					ENST00000268182.5:c.293G>T	p.Arg98Leu	p.R98L	ENST00000268182	NM_003870.3	98	cGa/cTa	0	validated		probablydamaging	
SLC2A5		inserm.fr	GRCh37	1	9098035	9098035	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC465T									Valid												ENST00000377424.4:c.1223G>A	p.Arg408Gln	p.R408Q	ENST00000377424	NM_003039.2	408	cGg/cAg	0	validated		probablydamaging	
NBN		inserm.fr	GRCh37	8	90995054	90995054	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265433.3:c.67G>A	p.Glu23Lys	p.E23K	ENST00000265433	NM_002485.4	23	Gag/Aag	0	not done		probablydamaging	
TTC7B		inserm.fr	GRCh37	14	91059870	91059870	+	synonymous_variant	Silent	SNP	C	T	T			CHC1592T																					ENST00000328459.6:c.2067G>A	p.Leu689=	p.L689=	ENST00000328459	NM_001010854.1	689	ctG/ctA	0	not done		synonymous	
CRTC3		inserm.fr	GRCh37	15	91073363	91073363	+	synonymous_variant	Silent	SNP	G	T	T			CHC433T																					ENST00000268184.6:c.60G>T	p.Ala20=	p.A20=	ENST00000268184		20	gcG/gcT	0	validated		synonymous	
SPIN1		inserm.fr	GRCh37	9	91083442	91083442	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1756T																					ENST00000375859.3:c.511G>T	p.Glu171Ter	p.E171*	ENST00000375859	NM_006717.2	171	Gag/Tag	0	not done		damaging	
SPIN1		inserm.fr	GRCh37	9	91090038	91090038	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1616T																					ENST00000375859.3:c.635G>T	p.Ser212Ile	p.S212I	ENST00000375859	NM_006717.2	212	aGc/aTc	0	not done		probablydamaging	
PCDH11X		inserm.fr	GRCh37	X	91090769	91090769	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC798T																					ENST00000373094.1:c.266C>T	p.Ala89Val	p.A89V	ENST00000373094	NM_032968.3	89	gCt/gTt	0	validated		benign	
IFIT3		inserm.fr	GRCh37	10	91098510	91098510	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCB157T																					ENST00000371818.4:c.98A>T	p.Asp33Val	p.D33V	ENST00000371818	NM_001549.4	33	gAt/gTt	0	validated		probablydamaging	
PCDH11X		inserm.fr	GRCh37	X	91133203	91133203	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC794T									Valid												ENST00000373094.1:c.1964C>T	p.Ser655Leu	p.S655L	ENST00000373094	NM_032968.3	655	tCa/tTa	0	validated		probablydamaging	
TTC7B		inserm.fr	GRCh37	14	91156016	91156016	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1192T																					ENST00000328459.6:c.818T>A	p.Met273Lys	p.M273K	ENST00000328459	NM_001010854.1	273	aTg/aAg	0	not done		possiblydamaging	
CCSER1		inserm.fr	GRCh37	4	91230195	91230195	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC197T									Valid												ENST00000509176.1:c.760G>T	p.Ala254Ser	p.A254S	ENST00000509176	NM_001145065.1	254	Gct/Tct	0	validated		probablydamaging	
BLM		inserm.fr	GRCh37	15	91290711	91290711	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000355112.3:c.89C>T	p.Pro30Leu	p.P30L	ENST00000355112	NM_000057.2	30	cCa/cTa	0	validated		probablydamaging	
EPYC		inserm.fr	GRCh37	12	91365646	91365646	+	synonymous_variant	Silent	SNP	G	T	T			CHC1591T																					ENST00000261172.3:c.633C>A	p.Thr211=	p.T211=	ENST00000261172	NM_004950.4	211	acC/acA	0	not done		synonymous	
EPYC		inserm.fr	GRCh37	12	91365647	91365647	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1591T																					ENST00000261172.3:c.632C>A	p.Thr211Asn	p.T211N	ENST00000261172	NM_004950.4	211	aCc/aAc	0	not done		benign	
ZNF644		inserm.fr	GRCh37	1	91406319	91406319	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2098T																					ENST00000370440.1:c.592G>A	p.Ala198Thr	p.A198T	ENST00000370440		198	Gct/Act	0	not done		benign	
FURIN		inserm.fr	GRCh37	15	91424658	91424658	+	synonymous_variant	Silent	SNP	C	T	T			BCB167T																					ENST00000268171.3:c.1935C>T	p.His645=	p.H645=	ENST00000268171	NM_002569.2	645	caC/caT	0	validated		synonymous	
FURIN		inserm.fr	GRCh37	15	91424842	91424842	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB151T																					ENST00000268171.3:c.2119G>T	p.Gly707Trp	p.G707W	ENST00000268171	NM_002569.2	707	Ggg/Tgg	0	validated		probablydamaging	
KIF20B		inserm.fr	GRCh37	10	91465070	91465070	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1601T																					ENST00000260753.4:c.19C>T	p.Gln7Ter	p.Q7*	ENST00000260753	NM_016195.2	7	Caa/Taa	0	not done		damaging	
KIF20B		inserm.fr	GRCh37	10	91498057	91498057	+	synonymous_variant	Silent	SNP	A	T	T			BCM337T																					ENST00000260753.4:c.3339A>T	p.Thr1113=	p.T1113=	ENST00000260753	NM_016195.2	1113	acA/acT	0	validated		synonymous	
DCN		inserm.fr	GRCh37	12	91546875	91546875	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	T	T			BCM265T																					ENST00000052754.5:c.744T>A	p.Ala248=	p.A248=	ENST00000052754	NM_001920.3	248	gcT/gcA	0	validated		synonymous	
VPS33B		inserm.fr	GRCh37	15	91551153	91551153	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM695T																					ENST00000333371.3:c.445G>A	p.Asp149Asn	p.D149N	ENST00000333371	NM_018668.3	149	Gat/Aat	0	validated		probablydamaging	
SHC3		inserm.fr	GRCh37	9	91653150	91653150	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375835.4:c.1414G>A	p.Ala472Thr	p.A472T	ENST00000375835	NM_016848.5	472	Gca/Aca	0	not done		benign	
TMEM64		inserm.fr	GRCh37	8	91657739	91657739	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1531T																					ENST00000458549.2:c.395T>A	p.Leu132Gln	p.L132Q	ENST00000458549	NM_001008495.3	132	cTg/cAg	0	not done		probablydamaging	
AKAP9		inserm.fr	GRCh37	7	91724478	91724478	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1756T																					ENST00000356239.3:c.9720A>T	p.Glu3240Asp	p.E3240D	ENST00000356239	NM_147185.2	3240	gaA/gaT	0	not done		probablydamaging	
CCDC88C		inserm.fr	GRCh37	14	91749777	91749777	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000389857.6:c.4526G>A	p.Arg1509Lys	p.R1509K	ENST00000389857	NM_001080414.3	1509	aGg/aAg	0	not done		benign	
LRRD1		inserm.fr	GRCh37	7	91779890	91779890	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1207T																					ENST00000458448.1:c.2236T>A	p.Tyr746Asn	p.Y746N	ENST00000458448		746	Tat/Aat	0	not done		benign	
CCDC88C		inserm.fr	GRCh37	14	91780033	91780033	+	synonymous_variant	Silent	SNP	C	T	T			CHC1531T																					ENST00000389857.6:c.2127G>A	p.Leu709=	p.L709=	ENST00000389857	NM_001080414.3	709	ctG/ctA	0	not done		synonymous	
SV2B		inserm.fr	GRCh37	15	91795098	91795098	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000394232.1:c.501C>T	p.Gly167=	p.G167=	ENST00000394232	NM_014848.4	167	ggC/ggT	0	not done		synonymous	
SV2B		inserm.fr	GRCh37	15	91801785	91801785	+	splice_donor_variant	Splice_Site	SNP	G	T	T			BCB301T																					ENST00000394232.1:c.918+1G>T		p.X306_splice	ENST00000394232	NM_014848.4			0	validated		damaging	
SV2B		inserm.fr	GRCh37	15	91832754	91832754	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1749T																					ENST00000394232.1:c.1712G>T	p.Gly571Val	p.G571V	ENST00000394232	NM_014848.4	571	gGc/gTc	0	not done		probablydamaging	
HFM1		inserm.fr	GRCh37	1	91859790	91859790	+	synonymous_variant	Silent	SNP	A	T	T			CHC1708T																					ENST00000370425.3:c.354T>A	p.Ala118=	p.A118=	ENST00000370425	NM_001017975.3	118	gcT/gcA	0	not done		synonymous	
KRIT1		inserm.fr	GRCh37	7	91867054	91867054	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000394507.1:c.282G>A	p.Met94Ile	p.M94I	ENST00000394507	NM_194456.1	94	atG/atA	0	not done		possiblydamaging	
SEMA4D		inserm.fr	GRCh37	9	91996098	91996098	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC796T																					ENST00000450295.1:c.1610G>A	p.Ser537Asn	p.S537N	ENST00000450295		537	aGc/aAc	0	validated		benign	
SEMA4D		inserm.fr	GRCh37	9	92001281	92001281	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000450295.1:c.1446+1G>A		p.X482_splice	ENST00000450295				0	not done		damaging	
ANKIB1		inserm.fr	GRCh37	7	92025790	92025790	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1746T																					ENST00000265742.3:c.2395G>T	p.Asp799Tyr	p.D799Y	ENST00000265742	NM_019004.1	799	Gat/Tat	0	not done		damaging	
C14orf184		inserm.fr	GRCh37	14	92040923	92040923	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC303T																					ENST00000596306.1:c.34G>A	p.Glu12Lys	p.E12K	ENST00000596306		12	Gag/Aag	0	validated		unknown	
KISS1R		inserm.fr	GRCh37	19	920554	920554	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000234371.5:c.1003C>T	p.Arg335Cys	p.R335C	ENST00000234371	NM_032551.4	335	Cgc/Tgc	0	not done		benign	
FAT3		inserm.fr	GRCh37	11	92085687	92085687	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC155T									Valid												ENST00000298047.6:c.409G>T	p.Asp137Tyr	p.D137Y	ENST00000298047		137	Gat/Tat	0	validated		possiblydamaging	
FAT3		inserm.fr	GRCh37	11	92086085	92086085	+	synonymous_variant	Silent	SNP	C	T	T			CHC2099T																					ENST00000298047.6:c.807C>T	p.Val269=	p.V269=	ENST00000298047		269	gtC/gtT	0	not done		synonymous	
FAT3		inserm.fr	GRCh37	11	92086830	92086830	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000298047.6:c.1552C>T	p.Pro518Ser	p.P518S	ENST00000298047		518	Cca/Tca	0	not done		probablydamaging	
OR7G2		inserm.fr	GRCh37	19	9213106	9213106	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1597T																					ENST00000305456.2:c.877G>A	p.Ala293Thr	p.A293T	ENST00000305456	NM_001005193.1	293	Gca/Aca	0	not done		possiblydamaging	
LRRC69		inserm.fr	GRCh37	8	92145426	92145426	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC891T																					ENST00000448384.2:c.472C>T	p.Leu158Phe	p.L158F	ENST00000448384	NM_001129890.1	158	Ctt/Ttt	0	not done		probablydamaging	
TGFBR3		inserm.fr	GRCh37	1	92177929	92177929	+	synonymous_variant	Silent	SNP	C	T	T			CHC1744T																					ENST00000212355.4:c.2037G>A	p.Pro679=	p.P679=	ENST00000212355	NM_001195683.1	679	ccG/ccA	0	not done		synonymous	
OR7G1		inserm.fr	GRCh37	19	9225585	9225585	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000541538.1:c.855G>A	p.Met285Ile	p.M285I	ENST00000541538	NM_001005192.2	285	atG/atA	0	not done		possiblydamaging	
OR7G3		inserm.fr	GRCh37	19	9236809	9236809	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1629T																					ENST00000305444.2:c.818T>A	p.Ile273Lys	p.I273K	ENST00000305444	NM_001001958.1	273	aTa/aAa	0	not done		benign	
OR7G3		inserm.fr	GRCh37	19	9237469	9237469	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1763T																					ENST00000305444.2:c.158C>A	p.Ser53Tyr	p.S53Y	ENST00000305444	NM_001001958.1	53	tCc/tAc	0	not done		probablydamaging	
SLCO3A1		inserm.fr	GRCh37	15	92459483	92459483	+	synonymous_variant	Silent	SNP	C	T	T			CHC1749T																					ENST00000318445.6:c.441C>T	p.Arg147=	p.R147=	ENST00000318445	NM_013272.3	147	cgC/cgT	0	not done		synonymous	
A2M		inserm.fr	GRCh37	12	9246096	9246096	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM483T									Valid												ENST00000318602.7:c.2205C>A	p.Phe735Leu	p.F735L	ENST00000318602	NM_000014.4	735	ttC/ttA	0	validated		possiblydamaging	
TRIP11		inserm.fr	GRCh37	14	92470414	92470414	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000267622.4:c.3906G>A	p.Lys1302=	p.K1302=	ENST00000267622	NM_004239.3	1302	aaG/aaA	0	not done		synonymous	
CCSER1		inserm.fr	GRCh37	4	92520018	92520018	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM723T																					ENST00000509176.1:c.2513G>T	p.Gly838Val	p.G838V	ENST00000509176	NM_001145065.1	838	gGg/gTg	0	validated		possiblydamaging	
FAT3		inserm.fr	GRCh37	11	92525972	92525972	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC1152T																					ENST00000298047.6:c.4651C>T	p.Arg1551Ter	p.R1551*	ENST00000298047		1551	Cga/Tga	0	validated		damaging	
FAT3		inserm.fr	GRCh37	11	92533902	92533902	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1154T																					ENST00000298047.6:c.7723C>T	p.Leu2575Phe	p.L2575F	ENST00000298047		2575	Ctt/Ttt	0	not done		possiblydamaging	
FAT3		inserm.fr	GRCh37	11	92534489	92534489	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000298047.6:c.8310C>T	p.Arg2770=	p.R2770=	ENST00000298047		2770	cgC/cgT	0	not done		synonymous	
BTG1		inserm.fr	GRCh37	12	92537945	92537945	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000256015.3:c.427G>A	p.Val143Ile	p.V143I	ENST00000256015	NM_001731.2	143	Gta/Ata	0	not done		benign	
ANKRD12		inserm.fr	GRCh37	18	9254569	9254569	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1725T																					ENST00000262126.4:c.1304A>T	p.Gln435Leu	p.Q435L	ENST00000262126	NM_015208.4	435	cAg/cTg	0	not done		probablydamaging	
FAT3		inserm.fr	GRCh37	11	92577385	92577385	+	synonymous_variant	Silent	SNP	C	T	T			CHC798T																					ENST00000298047.6:c.10852C>T	p.Leu3618=	p.L3618=	ENST00000298047		3618	Ctg/Ttg	0	validated		synonymous	
ANKRD12		inserm.fr	GRCh37	18	9258289	9258289	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC884T																					ENST00000262126.4:c.5024G>T	p.Ser1675Ile	p.S1675I	ENST00000262126	NM_015208.4	1675	aGt/aTt	0	validated		benign	
NDUFB1		inserm.fr	GRCh37	14	92588031	92588031	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1205T																					ENST00000329559.3:c.91C>A	p.Pro31Thr	p.P31T	ENST00000329559	NM_004545.3	31	Cct/Act	0	not done		benign	
BTBD8		inserm.fr	GRCh37	1	92604948	92604948	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1152T																					ENST00000342818.3:c.794A>T	p.Tyr265Phe	p.Y265F	ENST00000342818	NM_183242.3	265	tAt/tTt	0	not done		probablydamaging	
BTBD8		inserm.fr	GRCh37	1	92604973	92604973	+	synonymous_variant	Silent	SNP	C	T	T			BCM257T																					ENST00000342818.3:c.819C>T	p.Asp273=	p.D273=	ENST00000342818	NM_183242.3	273	gaC/gaT	0	validated		synonymous	
FAT3		inserm.fr	GRCh37	11	92616423	92616423	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000298047.6:c.12801C>T	p.His4267=	p.H4267=	ENST00000298047		4267	caC/caT	0	not done		synonymous	
FAT3		inserm.fr	GRCh37	11	92620270	92620270	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC155T									Valid												ENST00000298047.6:c.13042G>T	p.Asp4348Tyr	p.D4348Y	ENST00000298047		4348	Gac/Tac	0	validated		probablydamaging	
CPSF2		inserm.fr	GRCh37	14	92625355	92625355	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1763T																					ENST00000298875.4:c.1850C>T	p.Ser617Phe	p.S617F	ENST00000298875	NM_017437.2	617	tCt/tTt	0	not done		probablydamaging	
ZNF317		inserm.fr	GRCh37	19	9271623	9271623	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2110Tbis																					ENST00000247956.6:c.1302G>T	p.Lys434Asn	p.K434N	ENST00000247956	NM_020933.4	434	aaG/aaT	0	not done		probablydamaging	
SAMD9		inserm.fr	GRCh37	7	92733427	92733427	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000379958.2:c.1984G>A	p.Gly662Ser	p.G662S	ENST00000379958	NM_017654.3	662	Ggt/Agt	0	not done		possiblydamaging	
SAMD9L		inserm.fr	GRCh37	7	92765109	92765109	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000318238.4:c.176G>A	p.Gly59Glu	p.G59E	ENST00000318238	NM_152703.2	59	gGg/gAg	0	not done		probablydamaging	
RPAP2		inserm.fr	GRCh37	1	92811458	92811458	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1742T																					ENST00000610020.1:c.1675G>T	p.Val559Leu	p.V559L	ENST00000610020	NM_024813.2	559	Gtg/Ttg	0	not done		probablydamaging	
HEPACAM2		inserm.fr	GRCh37	7	92844796	92844796	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000394468.2:c.633G>A	p.Lys211=	p.K211=	ENST00000394468	NM_001039372.1	211	aaG/aaA	0	not done		synonymous	
SLC36A4		inserm.fr	GRCh37	11	92899131	92899131	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM671T																					ENST00000326402.4:c.820C>A	p.Pro274Thr	p.P274T	ENST00000326402	NM_152313.2	274	Cca/Aca	0	validated		possiblydamaging	
NR2F1		inserm.fr	GRCh37	5	92923827	92923827	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000327111.3:c.668C>T	p.Ala223Val	p.A223V	ENST00000327111	NM_005654.4	223	gCc/gTc	0	not done		probablydamaging	
NAP1L3		inserm.fr	GRCh37	X	92927149	92927149	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1629T																					ENST00000373079.3:c.1155C>A	p.His385Gln	p.H385Q	ENST00000373079	NM_004538.5	385	caC/caA	0	not done		possiblydamaging	
NAP1L3		inserm.fr	GRCh37	X	92928036	92928036	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000373079.3:c.268G>A	p.Ala90Thr	p.A90T	ENST00000373079	NM_004538.5	90	Gcc/Acc	0	not done		possiblydamaging	
GFI1		inserm.fr	GRCh37	1	92946573	92946573	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370332.1:c.371G>A	p.Trp124Ter	p.W124*	ENST00000370332	NM_001127215.1	124	tGg/tAg	0	not done		damaging	
GFI1		inserm.fr	GRCh37	1	92949039	92949039	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000370332.1:c.6G>A	p.Pro2=	p.P2=	ENST00000370332	NM_001127215.1	2	ccG/ccA	0	not done		synonymous	
ST8SIA2		inserm.fr	GRCh37	15	92977556	92977556	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000268164.3:c.241C>T	p.Pro81Ser	p.P81S	ENST00000268164	NM_006011.3	81	Cca/Tca	0	not done		benign	
RUNX1T1		inserm.fr	GRCh37	8	92998480	92998480	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1148T																					ENST00000436581.2:c.1184C>A	p.Ala395Glu	p.A395E	ENST00000436581		395	gCa/gAa	0	not done		benign	
RUNX1T1		inserm.fr	GRCh37	8	93029566	93029566	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1044T																					ENST00000436581.2:c.147G>A	p.Met49Ile	p.M49I	ENST00000436581		49	atG/atA	0	not done		probablydamaging	
H6PD		inserm.fr	GRCh37	1	9305489	9305489	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC898T																					ENST00000377403.2:c.496G>T	p.Ala166Ser	p.A166S	ENST00000377403	NM_004285.3	166	Gcc/Tcc	0	not done		possiblydamaging	
POU5F2		inserm.fr	GRCh37	5	93076760	93076760	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000510627.4:c.510G>A	p.Gln170=	p.Q170=	ENST00000510627	NM_153216.1	170	caG/caA	0	not done		synonymous	
RIN3		inserm.fr	GRCh37	14	93118858	93118858	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1190T																					ENST00000216487.7:c.1464G>T	p.Met488Ile	p.M488I	ENST00000216487	NM_024832.3	488	atG/atT	0	validated		benign	
PLEKHG7		inserm.fr	GRCh37	12	93149630	93149630	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCB167T																					ENST00000344636.3:c.520G>T	p.Asp174Tyr	p.D174Y	ENST00000344636	NM_001004330.2	174	Gac/Tac	0	validated		probablydamaging	
FAM172A		inserm.fr	GRCh37	5	93159892	93159892	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM791T									Valid												ENST00000395965.3:c.868G>A	p.Val290Ile	p.V290I	ENST00000395965	NM_032042.5	290	Gtt/Att	0	validated		probablydamaging	
EVI5		inserm.fr	GRCh37	1	93170216	93170216	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370331.1:c.367G>A	p.Ala123Thr	p.A123T	ENST00000370331	NM_005665.4	123	Gcc/Acc	0	not done		possiblydamaging	
LGMN		inserm.fr	GRCh37	14	93199026	93199026	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000393218.2:c.106G>A	p.Gly36Ser	p.G36S	ENST00000393218	NM_001008530.2	36	Ggt/Agt	0	not done		probablydamaging	
H6PD		inserm.fr	GRCh37	1	9324156	9324156	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1041T																					ENST00000377403.2:c.1604G>T	p.Gly535Val	p.G535V	ENST00000377403	NM_004285.3	535	gGg/gTg	0	validated		benign	
RPL5		inserm.fr	GRCh37	1	93299204	93299204	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC451T																					ENST00000370321.3:c.176A>T	p.Asp59Val	p.D59V	ENST00000370321	NM_000969.3	59	gAt/gTt	0	validated		possiblydamaging	
CHGA		inserm.fr	GRCh37	14	93397747	93397747	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000216492.5:c.508C>T	p.Pro170Ser	p.P170S	ENST00000216492	NM_001275.3	170	Cct/Tct	0	not done		benign	
ITPK1		inserm.fr	GRCh37	14	93483136	93483136	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000267615.6:c.131G>A	p.Ser44Asn	p.S44N	ENST00000267615		44	aGc/aAc	0	not done		benign	
C11orf54		inserm.fr	GRCh37	11	93494775	93494775	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1601T																					ENST00000528288.1:c.719A>T	p.Tyr240Phe	p.Y240F	ENST00000528288	NM_014039.2	240	tAt/tTt	0	not done		probablydamaging	
MED17		inserm.fr	GRCh37	11	93543005	93543005	+	synonymous_variant	Silent	SNP	C	T	T			CHC218T																					ENST00000251871.3:c.1707C>T	p.Ile569=	p.I569=	ENST00000251871	NM_004268.4	569	atC/atT	0	not done		synonymous	
VSTM5		inserm.fr	GRCh37	11	93553998	93553998	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1731T																					ENST00000409977.1:c.470C>A	p.Ala157Asp	p.A157D	ENST00000409977	NM_001144871.1	157	gCt/gAt	0	not done		benign	
TNKS2		inserm.fr	GRCh37	10	93579717	93579717	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1545T																					ENST00000371627.4:c.655G>T	p.Ala219Ser	p.A219S	ENST00000371627	NM_025235.3	219	Gca/Tca	0	not done		probablydamaging	
TNKS2		inserm.fr	GRCh37	10	93579718	93579718	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1545T																					ENST00000371627.4:c.656C>T	p.Ala219Val	p.A219V	ENST00000371627	NM_025235.3	219	gCa/gTa	0	not done		probablydamaging	
TWSG1		inserm.fr	GRCh37	18	9360050	9360050	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000262120.5:c.204C>T	p.Asp68=	p.D68=	ENST00000262120	NM_020648.5	68	gaC/gaT	0	validated		synonymous	
SYK		inserm.fr	GRCh37	9	93606475	93606475	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000375746.1:c.295C>T	p.Leu99=	p.L99=	ENST00000375746	NM_001174167.1	99	Ctg/Ttg	0	not done		synonymous	
OR7E24		inserm.fr	GRCh37	19	9362009	9362009	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1207T																					ENST00000456448.1:c.290C>T	p.Pro97Leu	p.P97L	ENST00000456448	NM_001079935.1	97	cCc/cTc	0	not done		probablydamaging	
UBR7		inserm.fr	GRCh37	14	93676170	93676170	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC2029T																					ENST00000013070.6:c.151G>T	p.Gly51Cys	p.G51C	ENST00000013070	NM_175748.3	51	Ggc/Tgc	0	not done		probablydamaging	
BTBD7		inserm.fr	GRCh37	14	93723683	93723683	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000334746.5:c.1466G>A	p.Gly489Asp	p.G489D	ENST00000334746	NM_001002860.2	489	gGc/gAc	0	not done		probablydamaging	
KIAA0825		inserm.fr	GRCh37	5	93739333	93739333	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000427991.2:c.2828G>A	p.Ser943Asn	p.S943N	ENST00000427991		943	aGc/aAc	0	not done		benign	
NSUN3		inserm.fr	GRCh37	3	93813998	93813998	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1743T																					ENST00000314622.4:c.743G>T	p.Arg248Met	p.R248M	ENST00000314622	NM_022072.3	248	aGg/aTg	0	not done		damaging	
NSUN3		inserm.fr	GRCh37	3	93813999	93813999	+	splice_donor_variant	Splice_Site	SNP	G	T	T			CHC1743T																					ENST00000314622.4:c.743+1G>T		p.X248_splice	ENST00000314622	NM_022072.3			0	not done		damaging	
HEPHL1		inserm.fr	GRCh37	11	93844702	93844702	+	splice_acceptor_variant	Splice_Site	SNP	G	T	T			CHC805T																					ENST00000315765.9:c.3209-1G>T		p.X1070_splice	ENST00000315765	NM_001098672.1			0	not done		possiblydamaging	
KIAA0825		inserm.fr	GRCh37	5	93856109	93856109	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000329378.7:c.814G>A	p.Val272Met	p.V272M	ENST00000329378	NM_173665.2	272	Gtg/Atg	0	not done		benign	
EPHA7		inserm.fr	GRCh37	6	93979306	93979306	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM759T																					ENST00000369303.4:c.1522G>A	p.Gly508Arg	p.G508R	ENST00000369303	NM_004440.3	508	Gga/Aga	0	validated		benign	
COL1A2		inserm.fr	GRCh37	7	94028364	94028364	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC314T																					ENST00000297268.6:c.100C>T	p.Pro34Ser	p.P34S	ENST00000297268	NM_000089.3	34	Cca/Tca	0	validated		unknown	
COL1A2		inserm.fr	GRCh37	7	94037679	94037679	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T									Valid												ENST00000297268.6:c.725C>T	p.Pro242Leu	p.P242L	ENST00000297268	NM_000089.3	242	cCc/cTc	0	not done		benign	
COL1A2		inserm.fr	GRCh37	7	94037691	94037691	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000297268.6:c.737C>T	p.Ala246Val	p.A246V	ENST00000297268	NM_000089.3	246	gCt/gTt	0	not done		possiblydamaging	
COL1A2		inserm.fr	GRCh37	7	94038918	94038918	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1205T																					ENST00000297268.6:c.934G>T	p.Ala312Ser	p.A312S	ENST00000297268	NM_000089.3	312	Gct/Tct	0	not done		benign	
COL1A2		inserm.fr	GRCh37	7	94039602	94039602	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1137T																					ENST00000297268.6:c.1084G>T	p.Glu362Ter	p.E362*	ENST00000297268	NM_000089.3	362	Gag/Tag	0	not done		damaging	
FOLR4		inserm.fr	GRCh37	11	94040825	94040825	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T																					ENST00000440961.2:c.699G>T	p.Met233Ile	p.M233I	ENST00000440961	NM_001199206.1	233	atG/atT	0	validated		benign	
FOLR4		inserm.fr	GRCh37	11	94040826	94040826	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC798T																					ENST00000440961.2:c.700G>T	p.Val234Phe	p.V234F	ENST00000440961	NM_001199206.1	234	Gtc/Ttc	0	validated		possiblydamaging	
UNC79		inserm.fr	GRCh37	14	94044264	94044264	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1182T																					ENST00000256339.4:c.1757C>T	p.Pro586Leu	p.P586L	ENST00000256339	NM_020818.3	586	cCg/cTg	0	not done		probablydamaging	
EPHA7		inserm.fr	GRCh37	6	94066468	94066468	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC912T									Valid												ENST00000369303.4:c.1291T>A	p.Phe431Ile	p.F431I	ENST00000369303	NM_004440.3	431	Ttt/Att	0	validated		possiblydamaging	
EPHA7		inserm.fr	GRCh37	6	94066501	94066501	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2048T																					ENST00000369303.4:c.1258G>A	p.Gly420Arg	p.G420R	ENST00000369303	NM_004440.3	420	Gga/Aga	0	not done		probablydamaging	
ZNF699		inserm.fr	GRCh37	19	9406962	9406962	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000591998.1:c.1118G>A	p.Ser373Asn	p.S373N	ENST00000591998		373	aGc/aAc	0	not done		benign	
UNC79		inserm.fr	GRCh37	14	94088594	94088594	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000256339.4:c.4484G>T	p.Ser1495Ile	p.S1495I	ENST00000256339	NM_020818.3	1495	aGc/aTc	0	not done		benign	
UNC79		inserm.fr	GRCh37	14	94089055	94089055	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			BCM275T									Valid												ENST00000256339.4:c.4945G>T	p.Glu1649Ter	p.E1649*	ENST00000256339	NM_020818.3	1649	Gaa/Taa	0	validated		damaging	
GPR83		inserm.fr	GRCh37	11	94113672	94113672	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000243673.2:c.915G>A	p.Trp305Ter	p.W305*	ENST00000243673	NM_016540.3	305	tgG/tgA	0	not done		damaging	
GPR83		inserm.fr	GRCh37	11	94113809	94113809	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000243673.2:c.778G>A	p.Ala260Thr	p.A260T	ENST00000243673	NM_016540.3	260	Gct/Act	0	not done		benign	
EPHA7		inserm.fr	GRCh37	6	94120318	94120318	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000369303.4:c.733G>A	p.Ala245Thr	p.A245T	ENST00000369303	NM_004440.3	245	Gcc/Acc	0	not done		benign	
AUH		inserm.fr	GRCh37	9	94124110	94124110	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2103T																					ENST00000375731.4:c.62G>A	p.Arg21His	p.R21H	ENST00000375731	NM_001698.2	21	cGc/cAc	0	not done		probablydamaging	
UNC79		inserm.fr	GRCh37	14	94173060	94173060	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1720T																					ENST00000256339.4:c.7187C>T	p.Ala2396Val	p.A2396V	ENST00000256339	NM_020818.3	2396	gCg/gTg	0	not done		possiblydamaging	
IDE		inserm.fr	GRCh37	10	94225496	94225496	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000265986.6:c.2425G>A	p.Glu809Lys	p.E809K	ENST00000265986	NM_004969.3	809	Gag/Aag	0	not done		probablydamaging	
PLCB4		inserm.fr	GRCh37	20	9424651	9424651	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC429T									Valid												ENST00000378501.2:c.2752A>T	p.Arg918Trp	p.R918W	ENST00000378501	NM_000933.3	918	Agg/Tgg	0	validated		benign	
IDE		inserm.fr	GRCh37	10	94266257	94266257	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1744T																					ENST00000265986.6:c.1268G>A	p.Arg423Lys	p.R423K	ENST00000265986	NM_004969.3	423	aGg/aAg	0	not done		benign	
MCTP1		inserm.fr	GRCh37	5	94275805	94275805	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC121T									Valid												ENST00000515393.1:c.1156G>A	p.Gly386Arg	p.G386R	ENST00000515393	NM_024717.4	386	Gga/Aga	0	validated		possiblydamaging	
FUT4		inserm.fr	GRCh37	11	94278165	94278165	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC322T																					ENST00000358752.2:c.866G>T	p.Gly289Val	p.G289V	ENST00000358752	NM_002033.3	289	gGc/gTc	0	validated		probablydamaging	
FUT4		inserm.fr	GRCh37	11	94278313	94278313	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000358752.2:c.1014C>T	p.His338=	p.H338=	ENST00000358752	NM_002033.3	338	caC/caT	0	not done		synonymous	
FUT4		inserm.fr	GRCh37	11	94278693	94278693	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000358752.2:c.1394C>T	p.Ala465Val	p.A465V	ENST00000358752	NM_002033.3	465	gCc/gTc	0	not done		possiblydamaging	
PEG10		inserm.fr	GRCh37	7	94292782	94292782	+	5_prime_UTR_variant	5'UTR	SNP	C	T	T			CHC892T																					ENST00000482108.1:c.-87C>T		*29*	ENST00000482108	NM_001172437.1			0	not done		unknown	
PEG10		inserm.fr	GRCh37	7	94293229	94293229	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM711T																					ENST00000482108.1:c.361G>T	p.Val121Leu	p.V121L	ENST00000482108	NM_001172437.1	121	Gtg/Ttg	0	validated		benign	
PLCB4		inserm.fr	GRCh37	20	9434023	9434023	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000378501.2:c.2874C>T	p.Cys958=	p.C958=	ENST00000378501	NM_000933.3	958	tgC/tgT	0	not done		synonymous	
PIWIL4		inserm.fr	GRCh37	11	94352945	94352945	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC609T									Valid												ENST00000299001.6:c.2188G>T	p.Val730Leu	p.V730L	ENST00000299001	NM_152431.2	730	Gtg/Ttg	0	validated		probablydamaging	
HHEX		inserm.fr	GRCh37	10	94454425	94454425	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1715T																					ENST00000282728.5:c.713C>T	p.Pro238Leu	p.P238L	ENST00000282728	NM_002729.4	238	cCc/cTc	0	not done		benign	
GPC6		inserm.fr	GRCh37	13	94482582	94482582	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC465T									Valid												ENST00000377047.4:c.495G>T	p.Trp165Cys	p.W165C	ENST00000377047	NM_005708.3	165	tgG/tgT	0	validated		probablydamaging	
ROR2		inserm.fr	GRCh37	9	94486921	94486921	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC884T																					ENST00000375708.3:c.1855C>A	p.Arg619Ser	p.R619S	ENST00000375708	NM_004560.3	619	Cgc/Agc	0	validated		probablydamaging	
ROR2		inserm.fr	GRCh37	9	94488903	94488903	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375708.3:c.1306G>A	p.Ala436Thr	p.A436T	ENST00000375708	NM_004560.3	436	Gcg/Acg	0	not done		benign	
ROR2		inserm.fr	GRCh37	9	94488909	94488909	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1061T																					ENST00000375708.3:c.1300G>A	p.Ala434Thr	p.A434T	ENST00000375708	NM_004560.3	434	Gca/Aca	0	validated		benign	
ABCA4		inserm.fr	GRCh37	1	94497492	94497492	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370225.3:c.3970G>A	p.Ala1324Thr	p.A1324T	ENST00000370225	NM_000350.2	1324	Gcg/Acg	0	not done		benign	
ROR2		inserm.fr	GRCh37	9	94499672	94499672	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC155T																					ENST00000375708.3:c.622+1G>A		p.X208_splice	ENST00000375708	NM_004560.3			0	validated		damaging	
DDX24		inserm.fr	GRCh37	14	94521528	94521528	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	T	T			BCM711T																					ENST00000330836.5:c.1992C>A	p.Val664=	p.V664=	ENST00000330836	NM_020414.3	664	gtC/gtA	0	validated		synonymous	
PLCB4		inserm.fr	GRCh37	20	9453472	9453472	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1753T																					ENST00000378501.2:c.3350A>T	p.Lys1117Met	p.K1117M	ENST00000378501	NM_000933.3	1117	aAg/aTg	0	not done		probablydamaging	
PPP1R9A		inserm.fr	GRCh37	7	94539678	94539678	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1035T									Valid												ENST00000433360.1:c.253G>T	p.Ala85Ser	p.A85S	ENST00000433360	NM_001166160.1	85	Gcc/Tcc	0	validated		possiblydamaging	
MCTP1		inserm.fr	GRCh37	5	94620055	94620055	+	synonymous_variant	Silent	SNP	G	T	T			CHC301T																					ENST00000515393.1:c.225C>A	p.Gly75=	p.G75=	ENST00000515393	NM_024717.4	75	ggC/ggA	0	validated		synonymous	
PLXNC1		inserm.fr	GRCh37	12	94658882	94658882	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000258526.4:c.3478C>T	p.Leu1160=	p.L1160=	ENST00000258526	NM_005761.2	1160	Ctg/Ttg	0	validated		synonymous	
KDM4D		inserm.fr	GRCh37	11	94730715	94730715	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM695T																					ENST00000335080.5:c.179G>T	p.Arg60Ile	p.R60I	ENST00000335080	NM_018039.2	60	aGa/aTa	0	validated		probablydamaging	
RBM12B		inserm.fr	GRCh37	8	94746932	94746932	+	synonymous_variant	Silent	SNP	C	T	T			BCM711T																					ENST00000399300.2:c.1707G>A	p.Pro569=	p.P569=	ENST00000399300	NM_203390.2	569	ccG/ccA	0	validated		synonymous	
ATOH1		inserm.fr	GRCh37	4	94750799	94750799	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM617T																					ENST00000306011.3:c.722C>T	p.Ala241Val	p.A241V	ENST00000306011	NM_005172.1	241	gCg/gTg	0	validated		benign	
CCDC41		inserm.fr	GRCh37	12	94772750	94772750	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1600T																					ENST00000397809.5:c.618C>A	p.Asp206Glu	p.D206E	ENST00000397809	NM_016122.2	206	gaC/gaA	0	not done		benign	
TMEM67		inserm.fr	GRCh37	8	94792905	94792905	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1065T									Valid												ENST00000453321.3:c.799G>T	p.Ala267Ser	p.A267S	ENST00000453321	NM_153704.5	267	Gca/Tca	0	validated		probablydamaging	
SPTLC1		inserm.fr	GRCh37	9	94800590	94800590	+	synonymous_variant	Silent	SNP	C	T	T			CHC898T																					ENST00000262554.2:c.1194G>A	p.Leu398=	p.L398=	ENST00000262554	NM_001281303.1	398	ctG/ctA	0	not done		synonymous	
TMEM67		inserm.fr	GRCh37	8	94811972	94811972	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1725T																					ENST00000453321.3:c.2227A>T	p.Ile743Phe	p.I743F	ENST00000453321	NM_153704.5	743	Att/Ttt	0	not done		probablydamaging	
CYP26A1		inserm.fr	GRCh37	10	94834752	94834752	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC912T																					ENST00000224356.4:c.631G>T	p.Val211Leu	p.V211L	ENST00000224356	NM_000783.3	211	Gtg/Ttg	0	validated		benign	
MCTP2		inserm.fr	GRCh37	15	94841673	94841673	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2141T																					ENST00000357742.4:c.179C>T	p.Ala60Val	p.A60V	ENST00000357742	NM_018349.3	60	gCc/gTc	0	not done		probablydamaging	
SKIC3		inserm.fr	GRCh37	5	94852723	94852723	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC801T																					ENST00000358746.2:c.2333C>A	p.Thr778Lys	p.T778K	ENST00000358746	NM_014639.3	778	aCa/aAa	0	not done		possiblydamaging	
MCTP2		inserm.fr	GRCh37	15	94883441	94883441	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM501T																					ENST00000357742.4:c.794A>T	p.Asp265Val	p.D265V	ENST00000357742	NM_018349.3	265	gAt/gTt	0	validated		probablydamaging	
PPP1R9A		inserm.fr	GRCh37	7	94913459	94913459	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000433360.1:c.3426C>T	p.Asn1142=	p.N1142=	ENST00000433360	NM_001166160.1	1142	aaC/aaT	0	not done		synonymous	
PON1		inserm.fr	GRCh37	7	94937412	94937412	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000222381.3:c.609G>A	p.Ser203=	p.S203=	ENST00000222381	NM_000446.5	203	tcG/tcA	0	validated		synonymous	
MCTP2		inserm.fr	GRCh37	15	94943208	94943208	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1186T																					ENST00000357742.4:c.1949G>T	p.Arg650Leu	p.R650L	ENST00000357742	NM_018349.3	650	cGc/cTc	0	not done		possiblydamaging	
GPR150		inserm.fr	GRCh37	5	94956824	94956824	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000380007.2:c.845C>T	p.Ala282Val	p.A282V	ENST00000380007	NM_199243.1	282	gCg/gTg	0	not done		benign	
WDR16		inserm.fr	GRCh37	17	9497584	9497584	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC303T																					ENST00000352665.5:c.482C>T	p.Ala161Val	p.A161V	ENST00000352665	NM_145054.4	161	gCc/gTc	0	validated		benign	
ABCD3		inserm.fr	GRCh37	1	94982631	94982631	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC433T									Valid												ENST00000370214.4:c.1926A>T	p.Arg642Ser	p.R642S	ENST00000370214	NM_002858.3	642	agA/agT	0	validated		probablydamaging	
SERPINA4		inserm.fr	GRCh37	14	95030330	95030330	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1207T																					ENST00000557004.1:c.511A>T	p.Asn171Tyr	p.N171Y	ENST00000557004		171	Aac/Tac	0	not done		probablydamaging	
TMCC3		inserm.fr	GRCh37	12	95044204	95044204	+	start_lost	Translation_Start_Site	SNP	C	T	T			CHC892T																					ENST00000261226.4:c.3G>A	p.Met1?	p.M1?	ENST00000261226	NM_020698.2	1	atG/atA	0	not done		possiblydamaging	
SERPINA5		inserm.fr	GRCh37	14	95056604	95056604	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000329597.7:c.846G>T	p.Leu282=	p.L282=	ENST00000329597	NM_000624.5	282	ctG/ctT	0	not done		synonymous	
RHOBTB3		inserm.fr	GRCh37	5	95091116	95091116	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC314T									Valid												ENST00000379982.3:c.699A>T	p.Leu233Phe	p.L233F	ENST00000379982	NM_014899.3	233	ttA/ttT	0	validated		probablydamaging	
ASB4		inserm.fr	GRCh37	7	95115433	95115433	+	synonymous_variant	Silent	SNP	C	T	T			CHC902T																					ENST00000325885.5:c.150C>T	p.Val50=	p.V50=	ENST00000325885	NM_016116.2	50	gtC/gtT	0	not done		synonymous	
DCT		inserm.fr	GRCh37	13	95121168	95121168	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000446125.1:c.427G>A	p.Gly143Ser	p.G143S	ENST00000446125	NM_001129889.1	143	Ggc/Agc	0	not done		benign	
SETD5		inserm.fr	GRCh37	3	9515059	9515059	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC429T																					ENST00000402198.1:c.3335C>T	p.Ala1112Val	p.A1112V	ENST00000402198	NM_001080517.1	1112	gCc/gTc	0	validated		benign	
ELL2		inserm.fr	GRCh37	5	95231331	95231331	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC1035T																					ENST00000237853.4:c.1589+1G>A		p.X530_splice	ENST00000237853	NM_012081.5			0	validated		damaging	
FFAR4		inserm.fr	GRCh37	10	95326697	95326697	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCB109T																					ENST00000371483.4:c.220A>T	p.Thr74Ser	p.T74S	ENST00000371483	NM_181745.3	74	Act/Tct	0	validated		benign	
DYNC1I1		inserm.fr	GRCh37	7	95434080	95434080	+	synonymous_variant	Silent	SNP	C	T	T			BCM257T																					ENST00000324972.6:c.39C>T	p.Arg13=	p.R13=	ENST00000324972	NM_004411.4	13	cgC/cgT	0	validated		synonymous	
PAK7		inserm.fr	GRCh37	20	9543585	9543585	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC432T																					ENST00000353224.5:c.1569G>A	p.Met523Ile	p.M523I	ENST00000353224	NM_177990.2	523	atG/atA	0	not done		probablydamaging	
PAK7		inserm.fr	GRCh37	20	9546607	9546607	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000353224.5:c.1415G>A	p.Gly472Glu	p.G472E	ENST00000353224	NM_177990.2	472	gGg/gAg	0	not done		probablydamaging	
PAK7		inserm.fr	GRCh37	20	9546643	9546643	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1052T																					ENST00000353224.5:c.1379C>A	p.Thr460Asn	p.T460N	ENST00000353224	NM_177990.2	460	aCc/aAc	0	validated		probablydamaging	
LHFPL4		inserm.fr	GRCh37	3	9547871	9547871	+	synonymous_variant	Silent	SNP	C	T	T			CHC2103T																					ENST00000287585.6:c.423G>A	p.Leu141=	p.L141=	ENST00000287585	NM_198560.2	141	ctG/ctA	0	not done		synonymous	
BICD2		inserm.fr	GRCh37	9	95480218	95480218	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000356884.6:c.2119G>A	p.Ala707Thr	p.A707T	ENST00000356884	NM_001003800.1	707	Gcc/Acc	0	not done		probablydamaging	
BICD2		inserm.fr	GRCh37	9	95482998	95482998	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000356884.6:c.646G>A	p.Glu216Lys	p.E216K	ENST00000356884	NM_001003800.1	216	Gag/Aag	0	not done		probablydamaging	
PPP4R1		inserm.fr	GRCh37	18	9549287	9549287	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM339T																					ENST00000400556.3:c.2597T>A	p.Leu866His	p.L866H	ENST00000400556	NM_001042388.2	866	cTc/cAc	0	validated		probablydamaging	
PDLIM5		inserm.fr	GRCh37	4	95539219	95539219	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC884T																					ENST00000514743.1:c.1072A>T	p.Ser358Cys	p.S358C	ENST00000514743	NM_001256426.1	358	Agc/Tgc	0	validated		benign	
TEKT4		inserm.fr	GRCh37	2	95539795	95539795	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000295201.4:c.655C>T	p.His219Tyr	p.H219Y	ENST00000295201	NM_144705.2	219	Cac/Tac	0	not done		benign	
DICER1		inserm.fr	GRCh37	14	95556875	95556875	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1754T																					ENST00000343455.3:c.5729G>A	p.Arg1910Gln	p.R1910Q	ENST00000343455	NM_177438.2	1910	cGa/cAa	0	not done		probablydamaging	
DICER1		inserm.fr	GRCh37	14	95557001	95557001	+	splice_acceptor_variant	Splice_Site	SNP	C	T	T			CHC2098T																					ENST00000343455.3:c.5604-1G>A		p.X1868_splice	ENST00000343455	NM_177438.2			0	not done		damaging	
DICER1		inserm.fr	GRCh37	14	95562916	95562916	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000343455.3:c.4341G>A	p.Gln1447=	p.Q1447=	ENST00000343455	NM_177438.2	1447	caG/caA	0	not done		synonymous	
MTMR2		inserm.fr	GRCh37	11	95582883	95582883	+	synonymous_variant	Silent	SNP	G	T	T			BCM671T																					ENST00000346299.5:c.948C>A	p.Ile316=	p.I316=	ENST00000346299	NM_016156.5	316	atC/atA	0	validated		synonymous	
DICER1		inserm.fr	GRCh37	14	95584058	95584058	+	synonymous_variant	Silent	SNP	C	T	T			CHC1704T																					ENST00000343455.3:c.1410G>A	p.Glu470=	p.E470=	ENST00000343455	NM_177438.2	470	gaG/gaA	0	not done		synonymous	
DICER1		inserm.fr	GRCh37	14	95590627	95590627	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM735T																					ENST00000343455.3:c.1282G>A	p.Glu428Lys	p.E428K	ENST00000343455	NM_177438.2	428	Gag/Aag	0	validated		probablydamaging	
FGD6		inserm.fr	GRCh37	12	95602656	95602656	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000343958.4:c.2404G>A	p.Gly802Ser	p.G802S	ENST00000343958	NM_018351.3	802	Ggc/Agc	0	not done		benign	
ZNF484		inserm.fr	GRCh37	9	95608581	95608581	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000395506.3:c.2494G>A	p.Val832Ile	p.V832I	ENST00000395506		832	Gta/Ata	0	not done		benign	
DYNC1I1		inserm.fr	GRCh37	7	95614191	95614191	+	synonymous_variant	Silent	SNP	C	T	T			CHC736T																					ENST00000324972.6:c.696C>T	p.Ile232=	p.I232=	ENST00000324972	NM_004411.4	232	atC/atT	0	validated		synonymous	
ABCC4		inserm.fr	GRCh37	13	95673831	95673831	+	stop_lost	Nonstop_Mutation	SNP	A	T	T			CHC1743T																					ENST00000376887.4:c.3976T>A	p.Ter1326ArgextTer15	p.*1326Rext*15	ENST00000376887	NM_005845.3	1326	Tga/Aga	0	not done			
MAML2		inserm.fr	GRCh37	11	95724868	95724868	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000524717.1:c.2159G>A	p.Gly720Asp	p.G720D	ENST00000524717	NM_032427.1	720	gGc/gAc	0	not done		probablydamaging	
FGD3		inserm.fr	GRCh37	9	95738661	95738661	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000375482.3:c.123C>T	p.Ala41=	p.A41=	ENST00000375482	NM_001083536.1	41	gcC/gcT	0	not done		synonymous	
SLC25A13		inserm.fr	GRCh37	7	95750535	95750535	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM269T																					ENST00000416240.2:c.1999T>A	p.Ser667Thr	p.S667T	ENST00000416240	NM_014251.2	667	Tct/Act	0	validated		benign	
ABCC4		inserm.fr	GRCh37	13	95768240	95768240	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1081T																					ENST00000376887.4:c.2471G>A	p.Arg824His	p.R824H	ENST00000376887	NM_005845.3	824	cGt/cAt	0	validated		probablydamaging	
MRPS5		inserm.fr	GRCh37	2	95773987	95773987	+	synonymous_variant	Silent	SNP	C	T	T			CHC433T																					ENST00000272418.2:c.570G>A	p.Glu190=	p.E190=	ENST00000272418	NM_031902.3	190	gaG/gaA	0	validated		synonymous	
ZNF560		inserm.fr	GRCh37	19	9577515	9577515	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC302T									Valid												ENST00000301480.4:c.2108T>A	p.Leu703Ter	p.L703*	ENST00000301480	NM_152476.2	703	tTa/tAa	0	validated		damaging	
FGD3		inserm.fr	GRCh37	9	95797633	95797633	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000375482.3:c.1940C>T	p.Pro647Leu	p.P647L	ENST00000375482	NM_001083536.1	647	cCc/cTc	0	not done		benign	
MAML2		inserm.fr	GRCh37	11	95825407	95825407	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000524717.1:c.1788G>A	p.Gln596=	p.Q596=	ENST00000524717	NM_032427.1	596	caG/caA	0	not done		synonymous	
ABCC4		inserm.fr	GRCh37	13	95839030	95839030	+	synonymous_variant	Silent	SNP	C	T	T			CHC1734T																					ENST00000376887.4:c.1470G>A	p.Arg490=	p.R490=	ENST00000376887	NM_005845.3	490	agG/agA	0	not done		synonymous	
INTS8		inserm.fr	GRCh37	8	95839999	95839999	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1741T																					ENST00000523731.1:c.496C>T	p.Pro166Ser	p.P166S	ENST00000523731	NM_017864.3	166	Ccc/Tcc	0	not done		possiblydamaging	
ABCC4		inserm.fr	GRCh37	13	95847154	95847154	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1065T																					ENST00000376887.4:c.1199G>A	p.Arg400His	p.R400H	ENST00000376887	NM_005845.3	400	cGt/cAt	0	validated		benign	
PPP4R1		inserm.fr	GRCh37	18	9584782	9584782	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000400556.3:c.630G>A	p.Glu210=	p.E210=	ENST00000400556	NM_001042388.2	210	gaG/gaA	0	not done		synonymous	
SYNE3		inserm.fr	GRCh37	14	95921900	95921900	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000334258.5:c.951G>A	p.Glu317=	p.E317=	ENST00000334258	NM_152592.3	317	gaG/gaA	0	not done		synonymous	
USP44		inserm.fr	GRCh37	12	95926604	95926604	+	splice_donor_variant	Splice_Site	SNP	C	T	T			CHC892T																					ENST00000258499.3:c.1428+1G>A		p.X476_splice	ENST00000258499	NM_032147.3			0	not done		damaging	
PROM2		inserm.fr	GRCh37	2	95940391	95940391	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000317620.9:c.58C>T	p.Leu20=	p.L20=	ENST00000317620	NM_001165978.1	20	Ctg/Ttg	0	not done		synonymous	
WEE1		inserm.fr	GRCh37	11	9595768	9595768	+	synonymous_variant	Silent	SNP	C	T	T			BCM711T																					ENST00000450114.2:c.288C>T	p.Pro96=	p.P96=	ENST00000450114	NM_003390.3	96	ccC/ccT	0	validated		synonymous	
WNK2		inserm.fr	GRCh37	9	96009992	96009992	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000297954.4:c.1710C>T	p.Pro570=	p.P570=	ENST00000297954	NM_001282394.1	570	ccC/ccT	0	not done		synonymous	
WNK2		inserm.fr	GRCh37	9	96021420	96021420	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC218T																					ENST00000297954.4:c.2590C>T	p.Pro864Ser	p.P864S	ENST00000297954	NM_001282394.1	864	Ccc/Tcc	0	validated		benign	
NDUFAF6		inserm.fr	GRCh37	8	96037275	96037275	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC609T																					ENST00000396124.4:c.39G>T	p.Leu13Phe	p.L13F	ENST00000396124	NM_152416.3	13	ttG/ttT	0	validated		benign	
WNK2		inserm.fr	GRCh37	9	96051626	96051626	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000297954.4:c.4701C>T	p.Ala1567=	p.A1567=	ENST00000297954	NM_001282394.1	1567	gcC/gcT	0	not done		synonymous	
PLCE1		inserm.fr	GRCh37	10	96053286	96053286	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM375T									Valid												ENST00000371380.3:c.5057C>T	p.Ser1686Phe	p.S1686F	ENST00000371380		1686	tCt/tTt	0	validated		possiblydamaging	
NTN4		inserm.fr	GRCh37	12	96063905	96063905	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000343702.4:c.1528G>A	p.Glu510Lys	p.E510K	ENST00000343702	NM_021229.3	510	Gaa/Aaa	0	not done		probablydamaging	
WNK2		inserm.fr	GRCh37	9	96069081	96069081	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000297954.4:c.6348C>T	p.Cys2116=	p.C2116=	ENST00000297954	NM_001282394.1	2116	tgC/tgT	0	not done		synonymous	
WNK2		inserm.fr	GRCh37	9	96070666	96070666	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000297954.4:c.6427C>T	p.His2143Tyr	p.H2143Y	ENST00000297954	NM_001282394.1	2143	Cac/Tac	0	not done		benign	
ERAP1		inserm.fr	GRCh37	5	96127865	96127865	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T									Valid												ENST00000296754.3:c.1219G>A	p.Ala407Thr	p.A407T	ENST00000296754	NM_016442.3	407	Gca/Aca	0	validated		possiblydamaging	
TRIM43B		inserm.fr	GRCh37	2	96148440	96148440	+	non_coding_transcript_exon_variant	RNA	SNP	G	T	T			CHC326T																					ENST00000454263.2:n.153C>A		*51*	ENST00000454263				0	validated			
USP43		inserm.fr	GRCh37	17	9615449	9615449	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	T	T			CHC2115T																					ENST00000285199.7:c.2335G>T	p.Gly779Ter	p.G779*	ENST00000285199	NM_001267576.1	779	Gga/Tga	0	not done		damaging	
TCL1A		inserm.fr	GRCh37	14	96178699	96178699	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC896T																					ENST00000402399.1:c.155G>A	p.Arg52His	p.R52H	ENST00000402399	NM_021966.2	52	cGt/cAt	0	not done		probablydamaging	
TNKS		inserm.fr	GRCh37	8	9623893	9623893	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1717T																					ENST00000310430.6:c.3698G>T	p.Gly1233Val	p.G1233V	ENST00000310430	NM_003747.2	1233	gGc/gTc	0	not done		probablydamaging	
HELLS		inserm.fr	GRCh37	10	96353283	96353283	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC879T																					ENST00000348459.5:c.1999G>T	p.Val667Leu	p.V667L	ENST00000348459	NM_018063.3	667	Gtg/Ttg	0	not done		possiblydamaging	
DNAJC3		inserm.fr	GRCh37	13	96375542	96375542	+	synonymous_variant	Silent	SNP	C	T	T			BCM501T																					ENST00000602402.1:c.240C>T	p.Val80=	p.V80=	ENST00000602402	NM_006260.4	80	gtC/gtT	0	validated		synonymous	
HAL		inserm.fr	GRCh37	12	96380950	96380950	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000261208.3:c.946G>A	p.Gly316Ser	p.G316S	ENST00000261208	NM_002108.3	316	Ggc/Agc	0	not done		probablydamaging	
PHF2		inserm.fr	GRCh37	9	96429508	96429508	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC258T																					ENST00000359246.4:c.2334G>T	p.Glu778Asp	p.E778D	ENST00000359246	NM_005392.3	778	gaG/gaT	0	validated		benign	
CYP2C18		inserm.fr	GRCh37	10	96493180	96493180	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1028T																					ENST00000285979.6:c.1276A>T	p.Met426Leu	p.M426L	ENST00000285979	NM_000772.2	426	Atg/Ttg	0	not done		benign	
DIAPH2		inserm.fr	GRCh37	X	96603121	96603121	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC923T																					ENST00000324765.8:c.2851A>T	p.Thr951Ser	p.T951S	ENST00000324765		951	Aca/Tca	0	not done		benign	
DLX6		inserm.fr	GRCh37	7	96639194	96639194	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC155T																					ENST00000518156.2:c.717G>T	p.Gln239His	p.Q239H	ENST00000518156		239	caG/caT	0	validated		benign	
DLX6		inserm.fr	GRCh37	7	96639195	96639195	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC155T									Valid												ENST00000518156.2:c.718G>T	p.Gly240Cys	p.G240C	ENST00000518156		240	Ggc/Tgc	0	validated		probablydamaging	
BDKRB2		inserm.fr	GRCh37	14	96706793	96706793	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000306005.3:c.128C>T	p.Ala43Val	p.A43V	ENST00000306005	NM_000623.3	43	gCc/gTc	0	not done		benign	
BDKRB1		inserm.fr	GRCh37	14	96730703	96730703	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000216629.6:c.684C>T	p.Ser228=	p.S228=	ENST00000216629	NM_000710.3	228	tcC/tcT	0	not done		synonymous	
HS6ST3		inserm.fr	GRCh37	13	96743238	96743238	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000376705.2:c.122C>T	p.Pro41Leu	p.P41L	ENST00000376705	NM_153456.3	41	cCc/cTc	0	not done		benign	
DHRS7C		inserm.fr	GRCh37	17	9674944	9674944	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC794T																					ENST00000330255.5:c.800G>A	p.Arg267Gln	p.R267Q	ENST00000330255	NM_001105571.2	267	cGg/cAg	0	validated		benign	
PDHA2		inserm.fr	GRCh37	4	96761475	96761475	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC469T																					ENST00000295266.4:c.174G>T	p.Glu58Asp	p.E58D	ENST00000295266	NM_005390.4	58	gaG/gaT	0	validated		benign	
PDHA2		inserm.fr	GRCh37	4	96761476	96761476	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC469T									Valid												ENST00000295266.4:c.175G>T	p.Gly59Trp	p.G59W	ENST00000295266	NM_005390.4	59	Ggg/Tgg	0	validated		probablydamaging	
PDHA2		inserm.fr	GRCh37	4	96762027	96762027	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC793T									Valid												ENST00000295266.4:c.726G>T	p.Lys242Asn	p.K242N	ENST00000295266	NM_005390.4	242	aaG/aaT	0	validated		probablydamaging	
ADRA2B		inserm.fr	GRCh37	2	96781805	96781805	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC432T																					ENST00000409345.3:c.84C>A	p.Phe28Leu	p.F28L	ENST00000409345	NM_000682.5	28	ttC/ttA	0	not done		probablydamaging	
TBL1X		inserm.fr	GRCh37	X	9679693	9679693	+	synonymous_variant	Silent	SNP	A	T	T			CHC1725T																					ENST00000217964.7:c.1482A>T	p.Arg494=	p.R494=	ENST00000217964	NM_005647.3	494	cgA/cgT	0	not done		synonymous	
ATG2B		inserm.fr	GRCh37	14	96797825	96797825	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000359933.4:c.1618G>A	p.Ala540Thr	p.A540T	ENST00000359933	NM_018036.5	540	Gca/Aca	0	not done		possiblydamaging	
CYP2C8		inserm.fr	GRCh37	10	96798670	96798670	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC892T																					ENST00000371270.3:c.1275C>A	p.Phe425Leu	p.F425L	ENST00000371270	NM_000770.3	425	ttC/ttA	0	not done		probablydamaging	
CYP2C8		inserm.fr	GRCh37	10	96802794	96802794	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM689T																					ENST00000371270.3:c.1002C>A	p.His334Gln	p.H334Q	ENST00000371270	NM_000770.3	334	caC/caA	0	validated		benign	
ACN9		inserm.fr	GRCh37	7	96810461	96810461	+	synonymous_variant	Silent	SNP	G	T	T			BCM711T																					ENST00000432641.2:c.312G>T	p.Leu104=	p.L104=	ENST00000432641	NM_020186.2	104	ctG/ctT	0	validated		synonymous	
DHRS7C		inserm.fr	GRCh37	17	9683222	9683222	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000330255.5:c.401G>A	p.Gly134Glu	p.G134E	ENST00000330255	NM_001105571.2	134	gGg/gAg	0	not done		possiblydamaging	
AK7		inserm.fr	GRCh37	14	96871122	96871122	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2099T																					ENST00000267584.4:c.323G>T	p.Arg108Leu	p.R108L	ENST00000267584	NM_152327.3	108	cGc/cTc	0	not done		benign	
CIAO1		inserm.fr	GRCh37	2	96936942	96936942	+	synonymous_variant	Silent	SNP	C	T	T			CHC2052T																					ENST00000488633.1:c.873C>T	p.Thr291=	p.T291=	ENST00000488633	NM_004804.2	291	acC/acT	0	not done		synonymous	
EPHA6		inserm.fr	GRCh37	3	96945142	96945142	+	synonymous_variant	Silent	SNP	G	T	T			CHC889T																					ENST00000389672.5:c.1149G>T	p.Gly383=	p.G383=	ENST00000389672	NM_001080448.2	383	ggG/ggT	0	not done		synonymous	
SNRNP200		inserm.fr	GRCh37	2	96952546	96952546	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM257T																					ENST00000323853.5:c.3709G>A	p.Glu1237Lys	p.E1237K	ENST00000323853	NM_014014.4	1237	Gag/Aag	0	validated		probablydamaging	
SNRNP200		inserm.fr	GRCh37	2	96953688	96953688	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000323853.5:c.3278G>A	p.Arg1093Gln	p.R1093Q	ENST00000323853	NM_014014.4	1093	cGa/cAa	0	not done		probablydamaging	
SNRNP200		inserm.fr	GRCh37	2	96970447	96970447	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000323853.5:c.205G>A	p.Ala69Thr	p.A69T	ENST00000323853	NM_014014.4	69	Gcc/Acc	0	not done		benign	
PAPOLA		inserm.fr	GRCh37	14	97009207	97009207	+	synonymous_variant	Silent	SNP	A	T	T			CHC1566T																					ENST00000216277.8:c.1266A>T	p.Pro422=	p.P422=	ENST00000216277	NM_032632.4	422	ccA/ccT	0	not done		synonymous	
PDLIM1		inserm.fr	GRCh37	10	97028603	97028603	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM325T																					ENST00000329399.6:c.265T>A	p.Trp89Arg	p.W89R	ENST00000329399	NM_020992.3	89	Tgg/Agg	0	validated		probablydamaging	
GPR143		inserm.fr	GRCh37	X	9711664	9711664	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000467482.1:c.708G>A	p.Arg236=	p.R236=	ENST00000467482		236	agG/agA	0	not done		synonymous	
EPHA6		inserm.fr	GRCh37	3	97124118	97124118	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	T	T			CHC1035T																					ENST00000389672.5:c.1731A>T	p.Lys577Asn	p.K577N	ENST00000389672	NM_001080448.2	577	aaA/aaT	0	validated		probablydamaging	
GDF6		inserm.fr	GRCh37	8	97156804	97156804	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000287020.5:c.1355G>A	p.Cys452Tyr	p.C452Y	ENST00000287020	NM_001001557.2	452	tGc/tAc	0	not done		probablydamaging	
C12orf55		inserm.fr	GRCh37	12	97158930	97158930	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM339T																					ENST00000524981.4:c.8215G>T	p.Ala2739Ser	p.A2739S	ENST00000524981		2739	Gca/Tca	0	validated		benign	
C12orf55		inserm.fr	GRCh37	12	97254677	97254677	+	synonymous_variant	Silent	SNP	A	T	T			CHC2052T																					ENST00000524981.4:c.9252A>T	p.Gly3084=	p.G3084=	ENST00000524981		3084	ggA/ggT	0	not done		synonymous	
KANSL3		inserm.fr	GRCh37	2	97271092	97271092	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000431828.1:c.1898G>A	p.Gly633Glu	p.G633E	ENST00000431828		633	gGg/gAg	0	not done		probablydamaging	
KANSL3		inserm.fr	GRCh37	2	97271107	97271107	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1082T																					ENST00000431828.1:c.1883G>A	p.Gly628Glu	p.G628E	ENST00000431828		628	gGg/gAg	0	validated		probablydamaging	
GLP2R		inserm.fr	GRCh37	17	9729533	9729533	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000262441.5:c.153C>T	p.Pro51=	p.P51=	ENST00000262441	NM_004246.1	51	ccC/ccT	0	not done		synonymous	
VRK1		inserm.fr	GRCh37	14	97342366	97342366	+	splice_acceptor_variant	Splice_Site	SNP	G	T	T			CHC2127T																					ENST00000216639.3:c.1069-1G>T		p.X357_splice	ENST00000216639	NM_003384.2			0	not done		damaging	
FER1L5		inserm.fr	GRCh37	2	97368974	97368974	+	downstream_gene_variant	3'Flank	SNP	C	T	T			CHC892T																								ENST00000377079	NM_001142292.1			0	not done		possiblydamaging	
TCTN3		inserm.fr	GRCh37	10	97442931	97442931	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371217.5:c.1225G>A	p.Gly409Ser	p.G409S	ENST00000371217		409	Ggt/Agt	0	not done		possiblydamaging	
TCTN3		inserm.fr	GRCh37	10	97447108	97447108	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000371217.5:c.632G>A	p.Gly211Glu	p.G211E	ENST00000371217		211	gGg/gAg	0	not done		probablydamaging	
CNNM3		inserm.fr	GRCh37	2	97483005	97483005	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM399T																					ENST00000305510.3:c.991A>T	p.Thr331Ser	p.T331S	ENST00000305510	NM_017623.4	331	Acc/Tcc	0	validated		benign	
SEMA4C		inserm.fr	GRCh37	2	97526901	97526901	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1053T																					ENST00000305476.5:c.1964C>A	p.Ala655Asp	p.A655D	ENST00000305476	NM_017789.4	655	gCc/gAc	0	validated		possiblydamaging	
C9orf3		inserm.fr	GRCh37	9	97555078	97555078	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM545T									Valid												ENST00000375315.2:c.996G>T	p.Met332Ile	p.M332I	ENST00000375315	NM_001193329.1	332	atG/atT	0	validated		probablydamaging	
CPNE9		inserm.fr	GRCh37	3	9759892	9759892	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	T	T			CHC2206T																					ENST00000383832.3:c.1111C>T	p.Leu371=	p.L371=	ENST00000383832	NM_153635.2	371	Ctg/Ttg	0	not done		synonymous	
ENTPD1		inserm.fr	GRCh37	10	97607364	97607364	+	synonymous_variant	Silent	SNP	C	T	T			CHC1742T																					ENST00000371207.3:c.1011C>T	p.Cys337=	p.C337=	ENST00000371207	NM_001164178.1	337	tgC/tgT	0	not done		synonymous	
ENTPD1		inserm.fr	GRCh37	10	97626065	97626065	+	synonymous_variant	Silent	SNP	G	T	T			CHC1082T																					ENST00000371207.3:c.1494G>T	p.Leu498=	p.L498=	ENST00000371207	NM_001164178.1	498	ctG/ctT	0	validated		synonymous	
FAM178B		inserm.fr	GRCh37	2	97633264	97633264	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB325T									Valid												ENST00000490605.2:c.727G>A	p.Glu243Lys	p.E243K	ENST00000490605		243	Gag/Aag	0	validated		probablydamaging	
FAM178B		inserm.fr	GRCh37	2	97637860	97637860	+	synonymous_variant	Silent	SNP	G	T	T			CHC1079T																					ENST00000490605.2:c.342C>A	p.Pro114=	p.P114=	ENST00000490605		114	ccC/ccA	0	validated		synonymous	
FAM178B		inserm.fr	GRCh37	2	97638046	97638046	+	synonymous_variant	Silent	SNP	G	T	T			CHC1602T																					ENST00000490605.2:c.156C>A	p.Ala52=	p.A52=	ENST00000490605		52	gcC/gcA	0	not done		synonymous	
OXGR1		inserm.fr	GRCh37	13	97639820	97639820	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000298440.1:c.194G>A	p.Trp65Ter	p.W65*	ENST00000298440	NM_080818.3	65	tGg/tAg	0	not done		damaging	
C10orf131		inserm.fr	GRCh37	10	97698445	97698445	+	3_prime_UTR_variant	3'UTR	SNP	C	T	T			CHC1044T																					ENST00000423344.2:c.*479C>T		*160*	ENST00000423344	NM_001130446.2			0	not done		synonymous	
GABRR3		inserm.fr	GRCh37	3	97726626	97726626	+	intron_variant,non_coding_transcript_variant	Intron	SNP	C	T	T			CHC2111T																					ENST00000470589.1:n.501+4562G>A		*167*	ENST00000470589				0	not done		probablydamaging	
OR5AC2		inserm.fr	GRCh37	3	97806034	97806034	+	synonymous_variant	Silent	SNP	A	T	T			BCM545T																					ENST00000358642.2:c.18A>T	p.Gly6=	p.G6=	ENST00000358642	NM_054106.1	6	ggA/ggT	0	validated		synonymous	
PIK3CD		inserm.fr	GRCh37	1	9781843	9781843	+	synonymous_variant	Silent	SNP	G	T	T			CHC1065T																					ENST00000377346.4:c.1980G>T	p.Val660=	p.V660=	ENST00000377346	NM_005026.3	660	gtG/gtT	0	validated		synonymous	
PIK3CD		inserm.fr	GRCh37	1	9784372	9784372	+	synonymous_variant	Silent	SNP	C	T	T			CHC2362T																					ENST00000377346.4:c.2757C>T	p.Phe919=	p.F919=	ENST00000377346	NM_005026.3	919	ttC/ttT	0	validated		synonymous	
DRD5		inserm.fr	GRCh37	4	9784642	9784642	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM371T																					ENST00000304374.2:c.989C>T	p.Pro330Leu	p.P330L	ENST00000304374	NM_000798.4	330	cCg/cTg	0	validated		benign	
TECPR1		inserm.fr	GRCh37	7	97875418	97875418	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000447648.2:c.41G>A	p.Arg14Lys	p.R14K	ENST00000447648	NM_015395.2	14	aGa/aAa	0	not done		benign	
OR5H15		inserm.fr	GRCh37	3	97887705	97887705	+	synonymous_variant	Silent	SNP	C	T	T			CHC1731T																					ENST00000356526.2:c.162C>T	p.His54=	p.H54=	ENST00000356526	NM_001005515.1	54	caC/caT	0	not done		synonymous	
ZNF812		inserm.fr	GRCh37	19	9801678	9801678	+	stop_gained	Nonsense_Mutation	SNP	A	T	T			CHC703T																					ENST00000457674.2:c.501T>A	p.Cys167Ter	p.C167*	ENST00000457674	NM_001199814.1	167	tgT/tgA	0	validated		damaging	
DPYD		inserm.fr	GRCh37	1	98039468	98039468	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM339T																					ENST00000370192.3:c.1187T>A	p.Val396Asp	p.V396D	ENST00000370192	NM_000110.3	396	gTt/gAt	0	validated		possiblydamaging	
DPYD		inserm.fr	GRCh37	1	98058872	98058872	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370192.3:c.1030G>A	p.Ala344Thr	p.A344T	ENST00000370192	NM_000110.3	344	Gcc/Acc	0	not done		probablydamaging	
OR5K4		inserm.fr	GRCh37	3	98072718	98072718	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000354924.2:c.21C>T	p.Ser7=	p.S7=	ENST00000354924	NM_001005517.1	7	tcC/tcT	0	not done		synonymous	
CPQ		inserm.fr	GRCh37	8	98155380	98155380	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000220763.5:c.1388C>T	p.Ala463Val	p.A463V	ENST00000220763	NM_016134.3	463	gCa/gTa	0	not done		probablydamaging	
IDUA		inserm.fr	GRCh37	4	981638	981638	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2052T																					ENST00000247933.4:c.200G>T	p.Ser67Ile	p.S67I	ENST00000247933	NM_000203.3	67	aGc/aTc	0	not done		probablydamaging	
CHD1		inserm.fr	GRCh37	5	98194681	98194681	+	synonymous_variant	Silent	SNP	C	T	T			CHC1598T																					ENST00000284049.3:c.4563G>A	p.Val1521=	p.V1521=	ENST00000284049	NM_001270.2	1521	gtG/gtA	0	not done		synonymous	
CHD1		inserm.fr	GRCh37	5	98262075	98262075	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2110Tbis																					ENST00000284049.3:c.16G>A	p.Asp6Asn	p.D6N	ENST00000284049	NM_001270.2	6	Gat/Aat	0	not done		probablydamaging	
TSPYL5		inserm.fr	GRCh37	8	98289612	98289612	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000322128.3:c.461G>A	p.Ser154Asn	p.S154N	ENST00000322128	NM_033512.2	154	aGc/aAc	0	not done		possiblydamaging	
ZAP70		inserm.fr	GRCh37	2	98341690	98341690	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1091T																					ENST00000264972.5:c.538G>T	p.Gly180Trp	p.G180W	ENST00000264972	NM_001079.3	180	Ggg/Tgg	0	validated		probablydamaging	
TMEM131		inserm.fr	GRCh37	2	98458287	98458287	+	synonymous_variant	Silent	SNP	C	T	T			BCM695T																					ENST00000186436.5:c.714G>A	p.Glu238=	p.E238=	ENST00000186436	NM_015348.1	238	gaG/gaA	0	validated		synonymous	
TMEM130		inserm.fr	GRCh37	7	98460988	98460988	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1704T																					ENST00000416379.2:c.121G>A	p.Ala41Thr	p.A41T	ENST00000416379		41	Gcc/Acc	0	not done		benign	
TRRAP		inserm.fr	GRCh37	7	98493399	98493399	+	synonymous_variant	Silent	SNP	C	T	T			CHC1055T																					ENST00000359863.4:c.463C>T	p.Leu155=	p.L155=	ENST00000359863	NM_001244580.1	155	Ctg/Ttg	0	validated		synonymous	
TRRAP		inserm.fr	GRCh37	7	98540578	98540578	+	synonymous_variant	Silent	SNP	C	T	T			CHC1035T																					ENST00000359863.4:c.4411C>T	p.Leu1471=	p.L1471=	ENST00000359863	NM_001244580.1	1471	Ctg/Ttg	0	validated		synonymous	
GRIN2A		inserm.fr	GRCh37	16	9857766	9857766	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC734T																					ENST00000330684.3:c.3635C>A	p.Thr1212Lys	p.T1212K	ENST00000330684	NM_001134407.1	1212	aCg/aAg	0	not done		probablydamaging	
TRRAP		inserm.fr	GRCh37	7	98580988	98580988	+	synonymous_variant	Silent	SNP	G	T	T			CHC1741T																					ENST00000359863.4:c.8907G>T	p.Thr2969=	p.T2969=	ENST00000359863	NM_001244580.1	2969	acG/acT	0	not done		synonymous	
GRIN2A		inserm.fr	GRCh37	16	9858332	9858332	+	synonymous_variant	Silent	SNP	C	T	T			CHC1708T																					ENST00000330684.3:c.3069G>A	p.Gln1023=	p.Q1023=	ENST00000330684	NM_001134407.1	1023	caG/caA	0	not done		synonymous	
TRRAP		inserm.fr	GRCh37	7	98592216	98592216	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1756T																					ENST00000359863.4:c.10012A>T	p.Arg3338Trp	p.R3338W	ENST00000359863	NM_001244580.1	3338	Agg/Tgg	0	not done		probablydamaging	
GAS7		inserm.fr	GRCh37	17	9862597	9862597	+	intron_variant	Intron	SNP	G	T	T			CHC891T																					ENST00000432992.2:c.472-25C>A		*158*	ENST00000432992	NM_201433.1			0	not done			
SHROOM2		inserm.fr	GRCh37	X	9863718	9863718	+	synonymous_variant	Silent	SNP	G	T	T			CHC793T																					ENST00000380913.3:c.1770G>T	p.Leu590=	p.L590=	ENST00000380913	NM_001649.2	590	ctG/ctT	0	validated		synonymous	
SHROOM2		inserm.fr	GRCh37	X	9863841	9863841	+	synonymous_variant	Silent	SNP	G	T	T			CHC1754T																					ENST00000380913.3:c.1893G>T	p.Arg631=	p.R631=	ENST00000380913	NM_001649.2	631	cgG/cgT	0	not done		synonymous	
IPO5		inserm.fr	GRCh37	13	98658520	98658520	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC2141T																					ENST00000261574.5:c.1688C>T	p.Ala563Val	p.A563V	ENST00000261574	NM_002271.4	563	gCg/gTg	0	not done		probablydamaging	
C10orf12		inserm.fr	GRCh37	10	98743589	98743589	+	synonymous_variant	Silent	SNP	C	T	T			BCM325T																					ENST00000286067.2:c.2442C>T	p.Gly814=	p.G814=	ENST00000286067	NM_015652.2	814	ggC/ggT	0	validated		synonymous	
SLIT1		inserm.fr	GRCh37	10	98764566	98764566	+	synonymous_variant	Silent	SNP	C	T	T			CHC1545T																					ENST00000266058.4:c.3594G>A	p.Glu1198=	p.E1198=	ENST00000266058	NM_003061.2	1198	gaG/gaA	0	not done		synonymous	
VWA3B		inserm.fr	GRCh37	2	98804572	98804572	+	synonymous_variant	Silent	SNP	C	T	T			CHC1035T																					ENST00000477737.1:c.1446C>T	p.Ala482=	p.A482=	ENST00000477737	NM_144992.4	482	gcC/gcT	0	validated		synonymous	
RNF113B		inserm.fr	GRCh37	13	98828954	98828954	+	synonymous_variant	Silent	SNP	C	T	T			CHC432T																					ENST00000267291.6:c.537G>A	p.Ala179=	p.A179=	ENST00000267291	NM_178861.4	179	gcG/gcA	0	not done		synonymous	
TMPO		inserm.fr	GRCh37	12	98927676	98927676	+	synonymous_variant	Silent	SNP	C	T	T			CHC1616T																					ENST00000266732.4:c.1641C>T	p.Ala547=	p.A547=	ENST00000266732	NM_003276.2	547	gcC/gcT	0	not done		synonymous	
ARPC1A		inserm.fr	GRCh37	7	98946582	98946582	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	T	T			CHC1629T																					ENST00000262942.5:c.500G>T	p.Arg167Ile	p.R167I	ENST00000262942	NM_001190996.1	167	aGa/aTa	0	not done		probablydamaging	
ARPC1A		inserm.fr	GRCh37	7	98951645	98951645	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1085T																					ENST00000262942.5:c.614G>T	p.Gly205Val	p.G205V	ENST00000262942	NM_001190996.1	205	gGc/gTc	0	validated		probablydamaging	
CNGA3		inserm.fr	GRCh37	2	98996699	98996699	+	stop_gained	Nonsense_Mutation	SNP	C	T	T			CHC892T																					ENST00000393504.1:c.277C>T	p.Gln93Ter	p.Q93*	ENST00000393504	NM_001298.2	93	Cag/Tag	0	not done		damaging	
WNK1		inserm.fr	GRCh37	12	990007	990007	+	synonymous_variant	Silent	SNP	C	T	T			CHC2103T																					ENST00000315939.6:c.2953C>T	p.Leu985=	p.L985=	ENST00000315939	NM_018979.3	985	Ctg/Ttg	0	not done		synonymous	
SHROOM2		inserm.fr	GRCh37	X	9900292	9900292	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000380913.3:c.2969C>T	p.Pro990Leu	p.P990L	ENST00000380913	NM_001649.2	990	cCc/cTc	0	not done		benign	
IKBIP		inserm.fr	GRCh37	12	99007620	99007620	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM423T																					ENST00000342502.2:c.796G>A	p.Asp266Asn	p.D266N	ENST00000342502	NM_201612.2	266	Gac/Aac	0	validated		probablydamaging	
IKBIP		inserm.fr	GRCh37	12	99020273	99020273	+	stop_gained	Nonsense_Mutation	SNP	G	T	T			CHC1603T																					ENST00000299157.4:c.569C>A	p.Ser190Ter	p.S190*	ENST00000299157	NM_153687.3	190	tCa/tAa	0	not done		damaging	
IKBIP		inserm.fr	GRCh37	12	99038450	99038450	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000299157.4:c.30G>A	p.Ser10=	p.S10=	ENST00000299157	NM_153687.3	10	tcG/tcA	0	not done		synonymous	
FARP1		inserm.fr	GRCh37	13	99076868	99076868	+	synonymous_variant	Silent	SNP	C	T	T			BCM791T																					ENST00000319562.6:c.1869C>T	p.Ile623=	p.I623=	ENST00000319562	NM_005766.2	623	atC/atT	0	validated		synonymous	
RRP12		inserm.fr	GRCh37	10	99125977	99125977	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000370992.4:c.3405G>A	p.Gly1135=	p.G1135=	ENST00000370992	NM_015179.3	1135	ggG/ggA	0	not done		synonymous	
INPP4A		inserm.fr	GRCh37	2	99160389	99160389	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC736T									Valid												ENST00000074304.5:c.868C>T	p.Leu290Phe	p.L290F	ENST00000074304	NM_001134224.1	290	Ctc/Ttc	0	validated		probablydamaging	
GRIN2A		inserm.fr	GRCh37	16	9916171	9916171	+	synonymous_variant	Silent	SNP	G	T	T			CHC736T																					ENST00000330684.3:c.2118C>A	p.Thr706=	p.T706=	ENST00000330684	NM_001134407.1	706	acC/acA	0	validated		synonymous	
POP1		inserm.fr	GRCh37	8	99162812	99162812	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1591T																					ENST00000401707.2:c.2002G>T	p.Ala668Ser	p.A668S	ENST00000401707	NM_001145860.1	668	Gcc/Tcc	0	not done		possiblydamaging	
INPP4A		inserm.fr	GRCh37	2	99182528	99182528	+	synonymous_variant	Silent	SNP	G	T	T			CHC1704T																					ENST00000074304.5:c.2331G>T	p.Pro777=	p.P777=	ENST00000074304	NM_001134224.1	777	ccG/ccT	0	not done		synonymous	
INPP4A		inserm.fr	GRCh37	2	99189347	99189347	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM489T																					ENST00000074304.5:c.2603C>T	p.Ala868Val	p.A868V	ENST00000074304	NM_001134224.1	868	gCc/gTc	0	validated		probablydamaging	
SNX7		inserm.fr	GRCh37	1	99203907	99203907	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1743T																					ENST00000306121.3:c.1240A>T	p.Thr414Ser	p.T414S	ENST00000306121	NM_015976.4	414	Aca/Tca	0	not done		benign	
ZSCAN25		inserm.fr	GRCh37	7	99217399	99217399	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC197T									Valid												ENST00000394152.2:c.170A>T	p.Gln57Leu	p.Q57L	ENST00000394152	NM_145115.2	57	cAg/cTg	0	validated		probablydamaging	
ZSCAN25		inserm.fr	GRCh37	7	99219067	99219067	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1712T																					ENST00000394152.2:c.459G>T	p.Gln153His	p.Q153H	ENST00000394152	NM_145115.2	153	caG/caT	0	not done		benign	
MMS19		inserm.fr	GRCh37	10	99219865	99219865	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000438925.2:c.2594G>A	p.Arg865His	p.R865H	ENST00000438925	NM_022362.4	865	cGc/cAc	0	validated		probablydamaging	
ZSCAN25		inserm.fr	GRCh37	7	99220206	99220206	+	synonymous_variant	Silent	SNP	C	T	T			CHC2362T																					ENST00000394152.2:c.624C>T	p.Pro208=	p.P208=	ENST00000394152	NM_145115.2	208	ccC/ccT	0	validated		synonymous	
GAS7		inserm.fr	GRCh37	17	9923143	9923143	+	missense_variant	Missense_Mutation	SNP	G	T	T			BCM791T																					ENST00000432992.2:c.255C>A	p.Ser85Arg	p.S85R	ENST00000432992	NM_201433.1	85	agC/agA	0	validated		possiblydamaging	
POU3F2		inserm.fr	GRCh37	6	99283571	99283571	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000328345.5:c.822C>T	p.Ala274=	p.A274=	ENST00000328345	NM_005604.3	274	gcC/gcT	0	not done		synonymous	
CDC14B		inserm.fr	GRCh37	9	99285599	99285599	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM265T																					ENST00000375241.1:c.1189G>A	p.Val397Ile	p.V397I	ENST00000375241	NM_003671.3	397	Gtt/Att	0	validated		benign	
RAP1GDS1		inserm.fr	GRCh37	4	99342486	99342486	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1041T																					ENST00000339360.5:c.1384G>T	p.Gly462Cys	p.G462C	ENST00000339360		462	Ggt/Tgt	0	validated		probablydamaging	
KIAA1211L		inserm.fr	GRCh37	2	99438764	99438764	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000397899.2:c.1972G>A	p.Ala658Thr	p.A658T	ENST00000397899	NM_207362.2	658	Gcc/Acc	0	not done		benign	
KIAA1211L		inserm.fr	GRCh37	2	99439133	99439133	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000397899.2:c.1603G>A	p.Ala535Thr	p.A535T	ENST00000397899	NM_207362.2	535	Gcc/Acc	0	not done		benign	
KCNS2		inserm.fr	GRCh37	8	99440308	99440308	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000287042.4:c.101C>T	p.Thr34Met	p.T34M	ENST00000287042	NM_020697.2	34	aCg/aTg	0	not done		probablydamaging	
IGF1R		inserm.fr	GRCh37	15	99459258	99459258	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1763T																					ENST00000268035.6:c.1894A>T	p.Asn632Tyr	p.N632Y	ENST00000268035	NM_000875.3	632	Aac/Tac	0	not done		benign	
ZFYVE27		inserm.fr	GRCh37	10	99498288	99498288	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1763T																					ENST00000356257.4:c.54G>T	p.Met18Ile	p.M18I	ENST00000356257	NM_001002261.3	18	atG/atT	0	not done		benign	
IGF1R		inserm.fr	GRCh37	15	99500634	99500634	+	missense_variant	Missense_Mutation	SNP	A	T	T			BCM483T									Valid												ENST00000268035.6:c.4067A>T	p.Glu1356Val	p.E1356V	ENST00000268035	NM_000875.3	1356	gAg/gTg	0	validated		probablydamaging	
COL8A1		inserm.fr	GRCh37	3	99513818	99513818	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC891T																					ENST00000261037.3:c.1073C>T	p.Pro358Leu	p.P358L	ENST00000261037	NM_001850.4	358	cCc/cTc	0	not done		benign	
TRIM4		inserm.fr	GRCh37	7	99516749	99516749	+	synonymous_variant	Silent	SNP	C	T	T			CHC1741T																					ENST00000355947.2:c.276G>A	p.Glu92=	p.E92=	ENST00000355947	NM_033017.3	92	gaG/gaA	0	validated		synonymous	
GJC3		inserm.fr	GRCh37	7	99527096	99527096	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000312891.2:c.148G>A	p.Glu50Lys	p.E50K	ENST00000312891	NM_181538.2	50	Gaa/Aaa	0	validated		probablydamaging	
FILIP1L		inserm.fr	GRCh37	3	99569566	99569566	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC2351T																					ENST00000354552.3:c.954T>A	p.Ser318Arg	p.S318R	ENST00000354552	NM_182909.2	318	agT/agA	0	not done		benign	
ZNF782		inserm.fr	GRCh37	9	99589430	99589430	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1152T																					ENST00000481138.1:c.176C>A	p.Thr59Lys	p.T59K	ENST00000481138	NM_001001662.1	59	aCa/aAa	0	not done		benign	
ZKSCAN1		inserm.fr	GRCh37	7	99631034	99631034	+	synonymous_variant	Silent	SNP	A	T	T			CHC917T																					ENST00000324306.6:c.906A>T	p.Gly302=	p.G302=	ENST00000324306	NM_003439.1	302	ggA/ggT	0	validated		synonymous	
ANKS1B		inserm.fr	GRCh37	12	99640277	99640277	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000547776.2:c.2122G>A	p.Gly708Arg	p.G708R	ENST00000547776	NM_152788.4	708	Gga/Aga	0	not done		benign	
BCL11B		inserm.fr	GRCh37	14	99641708	99641708	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1742T																					ENST00000357195.3:c.1465G>A	p.Asp489Asn	p.D489N	ENST00000357195	NM_138576.2	489	Gac/Aac	0	not done		probablydamaging	
BCL11B		inserm.fr	GRCh37	14	99642208	99642208	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1751T																					ENST00000357195.3:c.965G>A	p.Arg322His	p.R322H	ENST00000357195	NM_138576.2	322	cGc/cAc	0	not done		probablydamaging	
CRTAC1		inserm.fr	GRCh37	10	99644037	99644037	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM723T																					ENST00000370597.3:c.1558G>A	p.Gly520Arg	p.G520R	ENST00000370597	NM_018058.6	520	Ggg/Agg	0	validated		benign	
OLFM2		inserm.fr	GRCh37	19	9965326	9965326	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1704T																					ENST00000264833.4:c.901C>A	p.Gln301Lys	p.Q301K	ENST00000264833	NM_058164.2	301	Cag/Aag	0	not done		possiblydamaging	
CRTAC1		inserm.fr	GRCh37	10	99655043	99655043	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370597.3:c.1445G>A	p.Gly482Asp	p.G482D	ENST00000370597	NM_018058.6	482	gGc/gAc	0	not done		probablydamaging	
IL17RC		inserm.fr	GRCh37	3	9965589	9965589	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCB157T									Valid												ENST00000295981.3:c.860C>T	p.Ala287Val	p.A287V	ENST00000295981	NM_153461.3	287	gCa/gTa	0	validated		possiblydamaging	
PCDH19		inserm.fr	GRCh37	X	99662363	99662363	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000373034.4:c.1233G>A	p.Leu411=	p.L411=	ENST00000373034	NM_001184880.1	411	ctG/ctA	0	not done		synonymous	
PCDH19		inserm.fr	GRCh37	X	99662741	99662741	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000373034.4:c.855G>A	p.Thr285=	p.T285=	ENST00000373034	NM_001184880.1	285	acG/acA	0	not done		synonymous	
ZNF3		inserm.fr	GRCh37	7	99669407	99669407	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC432T																					ENST00000303915.6:c.700G>A	p.Gly234Arg	p.G234R	ENST00000303915		234	Ggg/Agg	0	not done		probablydamaging	
SYNM		inserm.fr	GRCh37	15	99670662	99670662	+	synonymous_variant	Silent	SNP	C	T	T			CHC909T																					ENST00000336292.6:c.2094C>T	p.Ser698=	p.S698=	ENST00000336292	NM_145728.2	698	tcC/tcT	0	not done			
AP4M1		inserm.fr	GRCh37	7	99704385	99704385	+	synonymous_variant	Silent	SNP	C	T	T			CHC1081T																					ENST00000359593.4:c.1242C>T	p.His414=	p.H414=	ENST00000359593	NM_004722.3	414	caC/caT	0	validated		synonymous	
LPPR4		inserm.fr	GRCh37	1	99766471	99766471	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000370185.3:c.741C>T	p.Ser247=	p.S247=	ENST00000370185	NM_014839.4	247	tcC/tcT	0	not done		synonymous	
C2orf15		inserm.fr	GRCh37	2	99767152	99767152	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1747T																					ENST00000302513.2:c.233C>T	p.Thr78Ile	p.T78I	ENST00000302513	NM_144706.2	78	aCc/aTc	0	not done		benign	
GPC2		inserm.fr	GRCh37	7	99767931	99767931	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000292377.2:c.1662G>A	p.Gly554=	p.G554=	ENST00000292377	NM_152742.1	554	ggG/ggA	0	not done		synonymous	
GPC2		inserm.fr	GRCh37	7	99768027	99768027	+	synonymous_variant	Silent	SNP	C	T	T			CHC892T																					ENST00000292377.2:c.1566G>A	p.Arg522=	p.R522=	ENST00000292377	NM_152742.1	522	cgG/cgA	0	not done		synonymous	
GPC2		inserm.fr	GRCh37	7	99769475	99769475	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC2200T																					ENST00000292377.2:c.1097C>A	p.Ala366Glu	p.A366E	ENST00000292377	NM_152742.1	366	gCg/gAg	0	validated		possiblydamaging	
LPPR4		inserm.fr	GRCh37	1	99772229	99772229	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC892T																					ENST00000370185.3:c.1955C>T	p.Pro652Leu	p.P652L	ENST00000370185	NM_014839.4	652	cCt/cTt	0	not done		benign	
GPC2		inserm.fr	GRCh37	7	99773366	99773366	+	synonymous_variant	Silent	SNP	C	T	T			CHC917T																					ENST00000292377.2:c.477G>A	p.Leu159=	p.L159=	ENST00000292377	NM_152742.1	159	ttG/ttA	0	validated		synonymous	
STK3		inserm.fr	GRCh37	8	99779547	99779547	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1211T																					ENST00000523601.1:c.244G>A	p.Ala82Thr	p.A82T	ENST00000523601	NM_001256312.1	82	Gca/Aca	0	validated		probablydamaging	
COQ3		inserm.fr	GRCh37	6	99828188	99828188	+	missense_variant	Missense_Mutation	SNP	G	T	T			CHC1205T																					ENST00000254759.3:c.263C>A	p.Ser88Tyr	p.S88Y	ENST00000254759	NM_017421.3	88	tCc/tAc	0	not done		possiblydamaging	
PNISR		inserm.fr	GRCh37	6	99850544	99850544	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1708T																					ENST00000369239.5:c.1199G>A	p.Arg400Lys	p.R400K	ENST00000369239	NM_032870.2	400	aGg/aAg	0	not done		possiblydamaging	
USP45		inserm.fr	GRCh37	6	99894186	99894186	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1746T																					ENST00000327681.6:c.1462G>A	p.Asp488Asn	p.D488N	ENST00000327681	NM_001080481.1	488	Gat/Aat	0	not done		probablydamaging	
LRRC28		inserm.fr	GRCh37	15	99901565	99901565	+	synonymous_variant	Silent	SNP	C	T	T			BCM723T																					ENST00000301981.3:c.720C>T	p.Ser240=	p.S240=	ENST00000301981	NM_144598.2	240	tcC/tcT	0	validated		synonymous	
SYTL4		inserm.fr	GRCh37	X	99942202	99942202	+	missense_variant	Missense_Mutation	SNP	C	T	T			BCM791T																					ENST00000455616.1:c.1046G>A	p.Gly349Asp	p.G349D	ENST00000455616		349	gGt/gAt	0	validated		probablydamaging	
USP45		inserm.fr	GRCh37	6	99958002	99958002	+	missense_variant	Missense_Mutation	SNP	A	T	T			CHC1746T																					ENST00000327681.6:c.95T>A	p.Ile32Asn	p.I32N	ENST00000327681	NM_001080481.1	32	aTt/aAt	0	not done		possiblydamaging	
METAP1		inserm.fr	GRCh37	4	99982445	99982445	+	missense_variant	Missense_Mutation	SNP	C	T	T			CHC1601T																					ENST00000296411.6:c.1138C>T	p.Pro380Ser	p.P380S	ENST00000296411	NM_015143.2	380	Cct/Tct	0	not done		probablydamaging	
C5		inserm.fr	GRCh37	9	33660	33661	+	upstream_gene_variant	5'Flank	INS	-	A	A			BCM769T																								ENST00000442898				0	validated		damaging	
KIAA0020		inserm.fr	GRCh37	9	2804384	2804385	+	frameshift_variant	Frame_Shift_Ins	INS	-	A	A			CHC798T									Valid												ENST00000397885.2:c.1893_1894insT	p.Thr632TyrfsTer13	p.T632Yfs*13	ENST00000397885	NM_014878.4	631	-/T	0	validated		damaging	
NSG1		inserm.fr	GRCh37	4	4419028	4419029	+	frameshift_variant	Frame_Shift_Ins	INS	-	A	A			CHC1611T																					ENST00000421177.2:c.426dup	p.Phe143IlefsTer37	p.F143Ifs*37	ENST00000421177		142	aaa/aAaa	0	not done		damaging	
INSR		inserm.fr	GRCh37	19	7142919	7142920	+	frameshift_variant	Frame_Shift_Ins	INS	-	A	A			CHC1743T																					ENST00000302850.5:c.2449_2450insT	p.Gly817ValfsTer15	p.G817Vfs*15	ENST00000302850	NM_000208.2	817	ggc/gTgc	0	not done		damaging	
RPS6KA3		inserm.fr	GRCh37	X	20193333	20193334	+	frameshift_variant	Frame_Shift_Ins	INS	-	A	A			CHC1725T									Valid												ENST00000379565.3:c.1175_1176insT	p.Asp393ArgfsTer2	p.D393Rfs*2	ENST00000379565	NM_004586.2	392	tca/tcTa	0	validated		damaging	
PLK1S1		inserm.fr	GRCh37	20	21143725	21143726	+	non_coding_transcript_exon_variant	RNA	INS	-	A	A			BCM531T																					ENST00000457464.1:n.947dup		*316*	ENST00000457464				0	validated		damaging	
ITSN2		inserm.fr	GRCh37	2	24477267	24477268	+	frameshift_variant	Frame_Shift_Ins	INS	-	A	A			CHC301T									Valid												ENST00000355123.4:c.2921_2922insT	p.Lys974AsnfsTer33	p.K974Nfs*33	ENST00000355123	NM_006277.2	974	aaa/aaTa	0	validated		damaging	
DNAH8		inserm.fr	GRCh37	6	38942269	38942270	+	frameshift_variant	Frame_Shift_Ins	INS	-	A	A			CHC2127T																					ENST00000359357.3:c.12147_12148insA	p.Leu4050ThrfsTer32	p.L4050Tfs*32	ENST00000359357		4049	-/A	0	validated		damaging	
GPR110		inserm.fr	GRCh37	6	46995471	46995472	+	frameshift_variant	Frame_Shift_Ins	INS	-	A	A			CHC434T									Valid												ENST00000371253.2:c.95_96insT	p.Lys32AsnfsTer7	p.K32Nfs*7	ENST00000371253	NM_153840.2	32	aaa/aaTa	0	validated		damaging	
BIRC7		inserm.fr	GRCh37	20	61870731	61870732	+	frameshift_variant	Frame_Shift_Ins	INS	-	A	A			CHC1754T																					ENST00000217169.3:c.671_672insA	p.Gln225ProfsTer8	p.Q225Pfs*8	ENST00000217169	NM_139317.2	224	gcc/gcAc	0	validated		damaging	
DYNC2H1		inserm.fr	GRCh37	11	103270517	103270518	+	frameshift_variant	Frame_Shift_Ins	INS	-	A	A			CHC429T									Valid												ENST00000398093.3:c.12304_12305insA	p.Ala4102AspfsTer63	p.A4102Dfs*63	ENST00000398093		4102	gct/gAct	0	validated		damaging	
TBC1D8B		inserm.fr	GRCh37	X	106066520	106066521	+	frameshift_variant	Frame_Shift_Ins	INS	-	A	A			CHC1061T									Valid												ENST00000357242.5:c.651dup	p.Glu218ArgfsTer21	p.E218Rfs*21	ENST00000357242	NM_017752.2	217	-/A	0	validated		damaging	
FAT4		inserm.fr	GRCh37	4	126373142	126373143	+	frameshift_variant	Frame_Shift_Ins	INS	-	A	A			CHC121T									Valid												ENST00000394329.3:c.10971_10972insA	p.Leu3658ThrfsTer10	p.L3658Tfs*10	ENST00000394329	NM_024582.4	3657	-/A	0	validated		damaging	
PPP2R2B		inserm.fr	GRCh37	5	146077602	146077603	+	frameshift_variant	Frame_Shift_Ins	INS	-	A	A			CHC155T									Valid												ENST00000336640.6:c.282_283insT	p.Ile95TyrfsTer3	p.I95Yfs*3	ENST00000336640	NM_181676.2	94	-/T	0	validated		damaging	
GUCY1A3		inserm.fr	GRCh37	4	156638372	156638373	+	frameshift_variant	Frame_Shift_Ins	INS	-	A	A			CHC429T									Valid												ENST00000296518.7:c.1634dup	p.His545GlnfsTer17	p.H545Qfs*17	ENST00000296518		545	cat/caAt	0	validated		damaging	
PHF10		inserm.fr	GRCh37	6	170115879	170115880	+	frameshift_variant	Frame_Shift_Ins	INS	-	A	A			CHC051T									Valid												ENST00000339209.4:c.617_618insT	p.Lys206AsnfsTer6	p.K206Nfs*6	ENST00000339209	NM_133325.2	206	aaa/aaTa	0	validated		damaging	
AC112715.2		inserm.fr	GRCh37	2	238166104	238166105	+	frameshift_variant	Frame_Shift_Ins	INS	-	A	A			CHC1531T																					ENST00000445534.2:c.117dup	p.Gln40ThrfsTer?	p.Q40Tfs*?	ENST00000445534		37	gaa/gaAa	0	validated		damaging	
BMP10		inserm.fr	GRCh37	2	69092859	69092860	+	frameshift_variant	Frame_Shift_Ins	INS	-	AA	AA			CHC961T									Valid												ENST00000295379.1:c.1178_1179insTT	p.Lys393AsnfsTer3	p.K393Nfs*3	ENST00000295379	NM_014482.1	393	aag/aaTTg	0	validated		damaging	
DTX3L		inserm.fr	GRCh37	3	122287481	122287482	+	frameshift_variant	Frame_Shift_Ins	INS	-	AAAGA	AAAGA			CHC1616T																					ENST00000296161.4:c.547_548insAGAAA	p.Arg183LysfsTer8	p.R183Kfs*8	ENST00000296161	NM_138287.3	182	gaa/gaAAAGAa	0	validated		damaging	
CCDC110		inserm.fr	GRCh37	4	186380850	186380851	+	frameshift_variant	Frame_Shift_Ins	INS	-	AATA	AATA			BCM375T									Valid												ENST00000307588.3:c.890_891insTATT	p.Glu297AspfsTer7	p.E297Dfs*7	ENST00000307588	NM_152775.3	297	gaa/gaTATTa	0	validated		damaging	
ALB		inserm.fr	GRCh37	4	74283255	74283256	+	frameshift_variant	Frame_Shift_Ins	INS	-	AC	AC			CHC1185T																					ENST00000295897.4:c.1297_1298insAC	p.Val433AspfsTer17	p.V433Dfs*17	ENST00000295897	NM_000477.5	433	gtt/gACtt	0	validated		damaging	
ATG2B		inserm.fr	GRCh37	14	96777501	96777502	+	frameshift_variant	Frame_Shift_Ins	INS	-	AC	AC			CHC253T																					ENST00000359933.4:c.4113_4114insGT	p.Pro1372ValfsTer7	p.P1372Vfs*7	ENST00000359933	NM_018036.5	1371	-/GT	0	validated		damaging	
TBC1D31		inserm.fr	GRCh37	8	124164076	124164077	+	frameshift_variant	Frame_Shift_Ins	INS	-	AC	AC			CHC1568T																					ENST00000287380.1:c.3098_3099insAC	p.Asp1033GlufsTer12	p.D1033Efs*12	ENST00000287380	NM_145647.3	1033	gac/gaACc	0	validated		damaging	
ARID2		inserm.fr	GRCh37	12	46244798	46244799	+	inframe_insertion	In_Frame_Ins	INS	-	ACA	ACA			CHC2115T																					ENST00000334344.6:c.2892_2893insACA	p.Gly964_Gln965insThr	p.G964_Q965insT	ENST00000334344	NM_152641.2	964	-/ACA	0	validated		damaging	
KRT2		inserm.fr	GRCh37	12	53042124	53042125	+	splice_region_variant,intron_variant	Splice_Region	INS	-	ACAAC	ACAAC			BCM321T																					ENST00000309680.3:c.958-4_958-3insGTTGT		p.X320_splice	ENST00000309680	NM_000423.2			0	validated		damaging	
MLL4		inserm.fr	GRCh37	19	36212642	36212643	+	stop_gained,frameshift_variant	Nonsense_Mutation	INS	-	ACAGATTACGAGTCAGGTATCTGGTGCCAATGGGGCGAGGCTCTGAATACACACCATTAGTGTCCACAGTAAAGTCCACATTAACAGATTTGTT	ACAGATTACGAGTCAGGTATCTGGTGCCAATGGGGCGAGGCTCTGAATACACACCATTAGTGTCCACAGTAAAGTCCACATTAACAGATTTGTT			CHC1185T																					ENST00000222270.7:c.2394_2395insCAGATTACGAGTCAGGTATCTGGTGCCAATGGGGCGAGGCTCTGAATACACACCATTAGTGTCCACAGTAAAGTCCACATTAACAGATTTGTTA	p.Ala799GlnfsTer15	p.A799Qfs*15	ENST00000222270	NM_014727.1	798	aga/agACAGATTACGAGTCAGGTATCTGGTGCCAATGGGGCGAGGCTCTGAATACACACCATTAGTGTCCACAGTAAAGTCCACATTAACAGATTTGTTa	0	validated		damaging	
SYTL4		inserm.fr	GRCh37	X	99940985	99940986	+	splice_donor_variant	Splice_Site	INS	-	ACC	ACC			CHC1712T																					ENST00000455616.1:c.1449+1_1449+2insGGT		p.X483_splice	ENST00000455616				0	not done		damaging	
KDM5C		inserm.fr	GRCh37	X	53224587	53224588	+	inframe_insertion	In_Frame_Ins	INS	-	ACCATTCTA	ACCATTCTA			CHC1704T																					ENST00000375401.3:c.3126_3127insAGAATGGTT	p.Gly1042_Asp1043insArgMetVal	p.G1042_D1043insRMV	ENST00000375401	NM_004187.3	1042	ggt/ggTAGAATGGTt	0	validated		damaging	
EPPK1		inserm.fr	GRCh37	8	144940775	144940776	+	stop_gained,frameshift_variant	Nonsense_Mutation	INS	-	ACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCC	ACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCC			CHC1743T																					ENST00000525985.1:c.6646_6647insGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGT	p.Val2216GlyfsTer30	p.V2216Gfs*30	ENST00000525985	NM_031308.2	2216	gtc/gGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTtc	0	not done		damaging	
DNAH7		inserm.fr	GRCh37	2	196723366	196723367	+	frameshift_variant	Frame_Shift_Ins	INS	-	AG	AG			CHC433T									Valid												ENST00000312428.6:c.7898_7899insCT	p.Glu2633AspfsTer4	p.E2633Dfs*4	ENST00000312428	NM_018897.2	2633	gag/gaCTg	0	validated		damaging	
SLC13A5		inserm.fr	GRCh37	17	6596403	6596404	+	frameshift_variant	Frame_Shift_Ins	INS	-	AGCACGAT	AGCACGAT			CHC891T																					ENST00000433363.2:c.1234_1235insATCGTGCT	p.Leu412HisfsTer6	p.L412Hfs*6	ENST00000433363	NM_177550.3	412	ctg/cATCGTGCTtg	0	validated		damaging	
RP11-758M4.1		inserm.fr	GRCh37	8	75615914	75615915	+	inframe_insertion	In_Frame_Ins	INS	-	AGG	AGG			BCM689T																					ENST00000523118.1:c.225_226insAGG	p.Ser75_Gly76insArg	p.S75_G76insR	ENST00000523118		75	-/AGG	0	validated		damaging	
SETD2		inserm.fr	GRCh37	3	47058719	47058720	+	frameshift_variant	Frame_Shift_Ins	INS	-	AGGA	AGGA			CHC304T									Valid												ENST00000409792.3:c.7558_7559insTCCT	p.Glu2520ValfsTer7	p.E2520Vfs*7	ENST00000409792	NM_014159.6	2520	gag/gTCCTag	0	validated		damaging	
SLC25A13		inserm.fr	GRCh37	7	95761164	95761165	+	frameshift_variant	Frame_Shift_Ins	INS	-	AT	AT			CHC1053T									Valid												ENST00000416240.2:c.1483_1484dup	p.Pro496PhefsTer14	p.P496Ffs*14	ENST00000416240	NM_014251.2	495	att/atATt	0	validated		damaging	
APOB		inserm.fr	GRCh37	2	21239482	21239483	+	frameshift_variant	Frame_Shift_Ins	INS	-	ATAA	ATAA			CHC205T									Valid												ENST00000233242.1:c.3160_3161insTTAT	p.Asn1054IlefsTer11	p.N1054Ifs*11	ENST00000233242	NM_000384.2	1054	aat/aTTATat	0	validated		damaging	
MAOA		inserm.fr	GRCh37	X	43601288	43601289	+	stop_gained,frameshift_variant	Nonsense_Mutation	INS	-	ATGGA	ATGGA			CHC1751T																					ENST00000338702.3:c.1256_1257insATGGA	p.Tyr419Ter	p.Y419*	ENST00000338702	NM_000240.3	419	tat/taATGGAt	0	validated		damaging	
ZFP62		inserm.fr	GRCh37	5	180276976	180276977	+	frameshift_variant	Frame_Shift_Ins	INS	-	ATTTATAGGG	ATTTATAGGG			CHC1744T																					ENST00000502412.1:c.1518_1519insCCCTATAAAT	p.Cys507ProfsTer5	p.C507Pfs*5	ENST00000502412	NM_001172638.1	506	-/CCCTATAAAT	0	validated		damaging	
SLC9A3		inserm.fr	GRCh37	5	492032	492033	+	frameshift_variant	Frame_Shift_Ins	INS	-	C	C			CHC205T									Valid												ENST00000264938.3:c.365_366insG	p.Ile123HisfsTer79	p.I123Hfs*79	ENST00000264938	NM_004174.2	122	ccc/ccGc	0	validated		damaging	
ADTRP		inserm.fr	GRCh37	6	11768592	11768593	+	frameshift_variant	Frame_Shift_Ins	INS	-	C	C			BCM723T																					ENST00000229583.5:c.232dup	p.Val78GlyfsTer6	p.V78Gfs*6	ENST00000229583	NM_001143948.1	77	-/G	0	validated		damaging	
IFNLR1		inserm.fr	GRCh37	1	24484189	24484190	+	frameshift_variant	Frame_Shift_Ins	INS	-	C	C			CHC1595T																					ENST00000327535.1:c.994dup	p.Glu332GlyfsTer14	p.E332Gfs*14	ENST00000327535	NM_170743.3	331	-/G	0	validated		damaging	
BPIFB4		inserm.fr	GRCh37	20	31671214	31671215	+	frameshift_variant	Frame_Shift_Ins	INS	-	C	C			BCM723T																					ENST00000375483.3:c.218dup	p.Val74SerfsTer9	p.V74Sfs*9	ENST00000375483	NM_182519.2	71	ccc/cCcc	0	validated		damaging	
BRF1		inserm.fr	GRCh37	14	105692604	105692605	+	frameshift_variant	Frame_Shift_Ins	INS	-	C	C			CHC218T																					ENST00000546474.1:c.938_939insG	p.Leu314ThrfsTer5	p.L314Tfs*5	ENST00000546474	NM_001519.3	313	aaa/aaGa	0	validated		damaging	
ANK2		inserm.fr	GRCh37	4	114260438	114260439	+	frameshift_variant	Frame_Shift_Ins	INS	-	C	C			CHC1742T																					ENST00000357077.4:c.3853_3854insC	p.Val1285AlafsTer3	p.V1285Afs*3	ENST00000357077	NM_001148.4	1285	gtc/gCtc	0	validated		damaging	
SLC23A1		inserm.fr	GRCh37	5	138713965	138713966	+	frameshift_variant	Frame_Shift_Ins	INS	-	C	C			CHC320T									Valid												ENST00000353963.3:c.1266_1267insG	p.Leu423AlafsTer7	p.L423Afs*7	ENST00000353963	NM_152685.3	422	-/G	0	validated		damaging	
UBAC1		inserm.fr	GRCh37	9	138845556	138845557	+	frameshift_variant	Frame_Shift_Ins	INS	-	C	C			CHC301T									Valid												ENST00000371756.3:c.302_303insG	p.Lys102GlnfsTer4	p.K102Qfs*4	ENST00000371756	NM_016172.2	101	ccc/ccGc	0	validated		damaging	
ZNF778		inserm.fr	GRCh37	16	89300118	89300119	+	downstream_gene_variant	3'Flank	INS	-	CA	CA			CHC1753T																								ENST00000433976	NM_001201407.1			0	not done		damaging	
ABCC4		inserm.fr	GRCh37	13	95673838	95673839	+	frameshift_variant	Frame_Shift_Ins	INS	-	CA	CA			CHC314T									Valid												ENST00000376887.4:c.3968_3969insTG	p.Ala1324GlufsTer24	p.A1324Efs*24	ENST00000376887	NM_005845.3	1323	aca/acTGa	0	validated		damaging	
HIVEP1		inserm.fr	GRCh37	6	12125486	12125487	+	frameshift_variant	Frame_Shift_Ins	INS	-	CAAC	CAAC			CHC1715T																					ENST00000379388.2:c.5458_5459insCAAC	p.Gln1820ProfsTer4	p.Q1820Pfs*4	ENST00000379388	NM_002114.2	1820	caa/cCAACaa	0	validated		damaging	
DHRS3		inserm.fr	GRCh37	1	12677267	12677268	+	inframe_insertion	In_Frame_Ins	INS	-	CAGCAC	CAGCAC			CHC892T																					ENST00000376223.2:c.87_88insTGCTGG	p.Leu29_Pro30insCysTrp	p.L29_P30insCW	ENST00000376223	NM_004753.4	29	ctg/ctGTGCTGg	0	validated		damaging	
CTNNB1		inserm.fr	GRCh37	3	41266128	41266129	+	inframe_insertion	In_Frame_Ins	INS	-	CAGCTC	CAGCTC			CHC1052T									Valid												ENST00000349496.5:c.125_126insCAGCTC	p.Thr42_Ala43insSerSer	p.T42_A43insSS	ENST00000349496	NM_001904.3	42	aca/acCAGCTCa	0	validated		damaging	
CCDC155		inserm.fr	GRCh37	19	49898408	49898409	+	frameshift_variant	Frame_Shift_Ins	INS	-	CAGGC	CAGGC			CHC1028T																					ENST00000447857.3:c.194_195insCAGGC	p.Gly66ArgfsTer51	p.G66Rfs*51	ENST00000447857	NM_144688.4	65	aca/acCAGGCa	0	validated		damaging	
INTS1		inserm.fr	GRCh37	7	1528982	1528983	+	inframe_insertion	In_Frame_Ins	INS	-	CAGGCCCTGCTCCCAGCCCCGGGCCCGCCG	CAGGCCCTGCTCCCAGCCCCGGGCCCGCCG			CHC1556T																					ENST00000404767.3:c.2316_2317insGGCGGGCCCGGGGCTGGGAGCAGGGCCTGC	p.Thr772_Asn773insGlyGlyProGlyAlaGlySerArgAlaCys	p.T772_N773insGGPGAGSRAC	ENST00000404767	NM_001080453.2	772	acc/acCGGCGGGCCCGGGGCTGGGAGCAGGGCCTGc	0	not done		damaging	
DST		inserm.fr	GRCh37	6	56505223	56505224	+	frameshift_variant	Frame_Shift_Ins	INS	-	CAGTATGCGTCCTTTGCTGTACACAGAAGAACATTCG	CAGTATGCGTCCTTTGCTGTACACAGAAGAACATTCG			CHC1137T																					ENST00000244364.6:c.596_597insCGAATGTTCTTCTGTGTACAGCAAAGGACGCATACTG	p.Leu200GlufsTer21	p.L200Efs*21	ENST00000244364	NM_015548.4	199	agt/agCGAATGTTCTTCTGTGTACAGCAAAGGACGCATACTGt	0	validated		damaging	
FGD5		inserm.fr	GRCh37	3	14940279	14940280	+	protein_altering_variant	In_Frame_Ins	INS	-	CAT	CAT			CHC1624T																					ENST00000285046.5:c.3100_3101insCAT	p.His1034delinsProTyr	p.H1034delinsPY	ENST00000285046	NM_152536.3	1034	cat/cCATat	0	validated		damaging	
RLTPR		inserm.fr	GRCh37	16	67681584	67681585	+	inframe_insertion,splice_region_variant	In_Frame_Ins	INS	-	CATGAC	CATGAC			CHC1591T																					ENST00000334583.6:c.873_874insCATGAC	p.Gly291_Met292insHisAsp	p.G291_M292insHD	ENST00000334583	NM_001013838.1	291	-/CATGAC	0	not done		damaging	
PLEC		inserm.fr	GRCh37	8	144998646	144998647	+	frameshift_variant	Frame_Shift_Ins	INS	-	CCGCTGCT	CCGCTGCT			CHC891T																					ENST00000322810.4:c.5861_5862insAGCAGCGG	p.Gln1955AlafsTer103	p.Q1955Afs*103	ENST00000322810	NM_201380.2	1954	cgg/cgAGCAGCGGg	0	validated		damaging	
NOBOX		inserm.fr	GRCh37	7	144097360	144097361	+	frameshift_variant	Frame_Shift_Ins	INS	-	CGATAGT	CGATAGT			CHC1592T																					ENST00000467773.1:c.889_890insACTATCG	p.Pro297HisfsTer4	p.P297Hfs*4	ENST00000467773	NM_001080413.3	297	cct/cACTATCGct	0	not done		damaging	
MLL4		inserm.fr	GRCh37	19	36229215	36229216	+	frameshift_variant	Frame_Shift_Ins	INS	-	CT	CT			CHC1747T																					ENST00000222270.7:c.7905_7906insCT	p.Phe2636LeufsTer4	p.F2636Lfs*4	ENST00000222270	NM_014727.1	2635	-/CT	0	validated		damaging	
USP7		inserm.fr	GRCh37	16	9057113	9057114	+	protein_altering_variant	In_Frame_Ins	INS	-	CTG	CTG			CHC1754T																					ENST00000344836.4:c.29_30insCAG	p.Gln10delinsHisArg	p.Q10delinsHR	ENST00000344836	NM_003470.2	10	cag/caCAGg	0	validated		damaging	
OR2T3		inserm.fr	GRCh37	1	248637208	248637209	+	stop_gained,frameshift_variant	Nonsense_Mutation	INS	-	CTGCTGAAGCT	CTGCTGAAGCT			CHC1530T																					ENST00000359594.2:c.557_558insCTGCTGAAGCT	p.Pro187CysfsTer2	p.P187Cfs*2	ENST00000359594	NM_001005495.1	186	act/acCTGCTGAAGCTt	0	not done		damaging	
LOC100130451		inserm.fr	GRCh37	2	214142638	214142639	+	non_coding_transcript_exon_variant	RNA	INS	-	CTTCACGGCAGCC	CTTCACGGCAGCC			CHC1712T																					ENST00000360083.3:n.365_366insGCTGCCGTGAAGG		*122*	ENST00000360083				0	not done		damaging	
KEAP1		inserm.fr	GRCh37	19	10602391	10602392	+	frameshift_variant	Frame_Shift_Ins	INS	-	G	G			CHC798T									Valid												ENST00000171111.5:c.1186_1187insC	p.Tyr396SerfsTer19	p.Y396Sfs*19	ENST00000171111	NM_203500.1	396	tac/tCac	0	no detection		damaging	
GNAZ		inserm.fr	GRCh37	22	23438368	23438369	+	frameshift_variant	Frame_Shift_Ins	INS	-	G	G			CHC794T									Valid												ENST00000248996.4:c.486_487insG	p.Ile163AspfsTer5	p.I163Dfs*5	ENST00000248996	NM_002073.2	162	-/G	0	validated		damaging	
ARID1A		inserm.fr	GRCh37	1	27024008	27024009	+	frameshift_variant	Frame_Shift_Ins	INS	-	G	G			CHC1568T									Valid												ENST00000324856.7:c.1114_1115insG	p.Gln372ArgfsTer28	p.Q372Rfs*28	ENST00000324856	NM_006015.4	372	cag/cGag	0	no detection		damaging	
EPHA7		inserm.fr	GRCh37	6	94120593	94120594	+	frameshift_variant	Frame_Shift_Ins	INS	-	G	G			BCB109T									Valid												ENST00000369303.4:c.457_458insC	p.Glu153AlafsTer7	p.E153Afs*7	ENST00000369303	NM_004440.3	153	gaa/gCaa	0	validated		damaging	
METTL21C		inserm.fr	GRCh37	13	103338641	103338642	+	frameshift_variant	Frame_Shift_Ins	INS	-	G	G			CHC1591T																					ENST00000267273.6:c.534_535insC	p.Asn179GlnfsTer10	p.N179Qfs*10	ENST00000267273	NM_001010977.2	178	-/C	0	not done		damaging	
MTSS1		inserm.fr	GRCh37	8	125565577	125565578	+	frameshift_variant	Frame_Shift_Ins	INS	-	G	G			CHC304T									Valid												ENST00000518547.1:c.1923_1924insC	p.Glu642ArgfsTer5	p.E642Rfs*5	ENST00000518547	NM_014751.4	641	-/C	0	validated		damaging	
SETDB1		inserm.fr	GRCh37	1	150917624	150917625	+	intron_variant	Intron	INS	-	G	G			BCM723T																					ENST00000271640.5:c.1140+47dup		*380*	ENST00000271640	NM_001145415.1			0	validated		damaging	
FN1		inserm.fr	GRCh37	2	216248180	216248181	+	frameshift_variant	Frame_Shift_Ins	INS	-	G	G			CHC304T									Valid												ENST00000354785.4:c.4920_4921insC	p.Val1641ArgfsTer10	p.V1641Rfs*10	ENST00000354785		1640	-/C	0	validated		damaging	
NFKBIZ		inserm.fr	GRCh37	3	101572001	101572002	+	frameshift_variant	Frame_Shift_Ins	INS	-	GA	GA			CHC796T									Valid												ENST00000326172.5:c.631_632insGA	p.Glu211GlyfsTer23	p.E211Gfs*23	ENST00000326172	NM_031419.3	211	gag/gGAag	0	validated		damaging	
C2orf62		inserm.fr	GRCh37	2	219221883	219221884	+	protein_altering_variant	In_Frame_Ins	INS	-	GAA	GAA			CHC2202T																					ENST00000289388.3:c.91_92insGAA	p.Glu31delinsGlyLys	p.E31delinsGK	ENST00000289388	NM_198559.1	31	gaa/gGAAaa	0	validated		damaging	
ACVR2A		inserm.fr	GRCh37	2	148602726	148602727	+	frameshift_variant	Frame_Shift_Ins	INS	-	GAGC	GAGC			CHC307T									Valid												ENST00000241416.7:c.5_6insGAGC	p.Ala3SerfsTer23	p.A3Sfs*23	ENST00000241416	NM_001616.4	2	gga/ggGAGCa	0	validated		damaging	
ANKRD36C		inserm.fr	GRCh37	2	96521487	96521488	+	frameshift_variant	Frame_Shift_Ins	INS	-	GATACAAA	GATACAAA			CHC1750T																					ENST00000419039.2:c.1603_1604insTTGTATCT	p.Ser535PhefsTer7	p.S535Ffs*7	ENST00000419039		534	-/TTTGTATC	0	not done		damaging	
CENPJ		inserm.fr	GRCh37	13	25480578	25480579	+	protein_altering_variant	In_Frame_Ins	INS	-	GCA	GCA			BCB301T																					ENST00000381884.4:c.1597_1598insTGC	p.Ala533delinsValPro	p.A533delinsVP	ENST00000381884	NM_018451.4	533	gcc/gTGCcc	0	validated		damaging	
PRSS8		inserm.fr	GRCh37	16	31143344	31143345	+	frameshift_variant	Frame_Shift_Ins	INS	-	GCCAT	GCCAT			CHC432T																					ENST00000317508.6:c.1017_1018insATGGC	p.Leu340MetfsTer35	p.L340Mfs*35	ENST00000317508	NM_002773.3	339	-/ATGGC	0	validated		damaging	
ARID2		inserm.fr	GRCh37	12	46245937	46245938	+	stop_gained,frameshift_variant	Nonsense_Mutation	INS	-	GGAAGTCTTTTAAATGGGAGAAAGTACAGTGACTCAAGTCTACCTCCTTCAAACTCAGGGAAAATTCA	GGAAGTCTTTTAAATGGGAGAAAGTACAGTGACTCAAGTCTACCTCCTTCAAACTCAGGGAAAATTCA			CHC1598T									Valid												ENST00000334344.6:c.4031_4032insGGAAGTCTTTTAAATGGGAGAAAGTACAGTGACTCAAGTCTACCTCCTTCAAACTCAGGGAAAATTCA	p.Ile1344MetfsTer5	p.I1344Mfs*5	ENST00000334344	NM_152641.2	1344	ata/atGGAAGTCTTTTAAATGGGAGAAAGTACAGTGACTCAAGTCTACCTCCTTCAAACTCAGGGAAAATTCAa	0	validated		damaging	
PBX4		inserm.fr	GRCh37	19	19672849	19672850	+	frameshift_variant	Frame_Shift_Ins	INS	-	GGAGTTGATG	GGAGTTGATG			CHC889T																					ENST00000251203.9:c.1111_1112insTCAACTCCCA	p.Ser371IlefsTer7	p.S371Ifs*7	ENST00000251203	NM_025245.2	370	tcc/tcCATCAACTCCc	0	validated		damaging	
HUWE1		inserm.fr	GRCh37	X	53643936	53643937	+	frameshift_variant	Frame_Shift_Ins	INS	-	GGAT	GGAT			BCM759T																					ENST00000342160.3:c.1951_1952insATCC	p.Pro651HisfsTer16	p.P651Hfs*16	ENST00000342160		651	ccc/cATCCcc	0	validated		damaging	
TARDBP		inserm.fr	GRCh37	1	11082664	11082665	+	inframe_insertion	In_Frame_Ins	INS	-	GGC	GGC			CHC303T									Valid												ENST00000240185.3:c.1199_1200insGCG	p.Gly400_Phe401insArg	p.G400_F401insR	ENST00000240185	NM_007375.3	400	ggc/gGGCgc	0	validated		damaging	
CCDC77		inserm.fr	GRCh37	12	542363	542364	+	inframe_insertion	In_Frame_Ins	INS	-	GGGAGA	GGGAGA			CHC1041T									Valid												ENST00000239830.4:c.698_699insGAGAGG	p.Gly233_Glu234insArgGly	p.G233_E234insRG	ENST00000239830	NM_032358.3	232	-/GGGAGA	0	validated		damaging	
INTS9		inserm.fr	GRCh37	8	28651370	28651371	+	frameshift_variant	Frame_Shift_Ins	INS	-	GGGAGAT	GGGAGAT			BCM397T																					ENST00000521022.1:c.990_991insATCTCCC	p.Pro331IlefsTer17	p.P331Ifs*17	ENST00000521022	NM_018250.3	330	-/ATCTCCC	0	validated		damaging	
SETD1B		inserm.fr	GRCh37	12	122248622	122248623	+	frameshift_variant	Frame_Shift_Ins	INS	-	GGGCCTC	GGGCCTC			BCM275T									Valid												ENST00000267197.5:c.1773_1774insGCCTCGG	p.Pro592AlafsTer8	p.P592Afs*8	ENST00000267197	NM_015048.1	591	ggg/gGGGCCTCgg	0	validated		damaging	
SPTAN1		inserm.fr	GRCh37	9	131374124	131374125	+	inframe_insertion,splice_region_variant	In_Frame_Ins	INS	-	GGTATG	GGTATG			CHC1148T																					ENST00000372739.3:c.4905+1_4905+2insGTATGG		G1635_Mins1636	ENST00000372739	NM_001130438.2	1635	-/GGTATG	0	validated		damaging	
CYP2A6		inserm.fr	GRCh37	19	41352924	41352925	+	frameshift_variant	Frame_Shift_Ins	INS	-	GT	GT			CHC1205T																					ENST00000301141.5:c.686_687insAC	p.His229GlnfsTer21	p.H229Qfs*21	ENST00000301141	NM_000762.5	229	cac/caACc	0	validated		damaging	
MIR3667HG		inserm.fr	GRCh37	22	49834745	49834746	+	frameshift_variant,NMD_transcript_variant	Frame_Shift_Ins	INS	-	GTTTCCTT	GTTTCCTT			CHC879T																					ENST00000414287.1:c.171_172insAAGGAAAC	p.Arg58LysfsTer92	p.R58Kfs*92	ENST00000414287		57	-/AAGGAAAC	0	validated		damaging	
AXIN1		inserm.fr	GRCh37	16	343680	343681	+	frameshift_variant	Frame_Shift_Ins	INS	-	T	T			BCM711T									Valid												ENST00000262320.3:c.1993_1994insA	p.Ser665TyrfsTer7	p.S665Yfs*7	ENST00000262320	NM_003502.3	665	tcc/tAcc	0	validated		damaging	
AXIN1		inserm.fr	GRCh37	16	354326	354327	+	frameshift_variant	Frame_Shift_Ins	INS	-	T	T			CHC1065T									Valid												ENST00000262320.3:c.1232dup	p.Arg412AlafsTer12	p.R412Afs*12	ENST00000262320	NM_003502.3	411	gag/gAag	0	validated		damaging	
ANKS3		inserm.fr	GRCh37	16	4749124	4749125	+	frameshift_variant	Frame_Shift_Ins	INS	-	T	T			CHC961T									Valid												ENST00000304283.4:c.1337_1338insA	p.Phe446LeufsTer2	p.F446Lfs*2	ENST00000304283	NM_133450.3	446	ttt/ttAt	0	validated		damaging	
NEURL4		inserm.fr	GRCh37	17	7228762	7228763	+	frameshift_variant	Frame_Shift_Ins	INS	-	T	T			CHC1061T																					ENST00000399464.2:c.1396_1397insA	p.Val466AspfsTer20	p.V466Dfs*20	ENST00000399464	NM_032442.2	466	gtg/gAtg	0	validated		damaging	
CXorf58		inserm.fr	GRCh37	X	23953321	23953322	+	frameshift_variant	Frame_Shift_Ins	INS	-	T	T			CHC1079T																					ENST00000379211.3:c.569dup	p.Asp191ArgfsTer2	p.D191Rfs*2	ENST00000379211	NM_001169574.1	188	-/T	0	validated		damaging	
ARID1A		inserm.fr	GRCh37	1	27056173	27056174	+	frameshift_variant	Frame_Shift_Ins	INS	-	T	T			CHC155T									Valid												ENST00000324856.7:c.1169dup	p.Met390IlefsTer10	p.M390Ifs*10	ENST00000324856	NM_006015.4	390	atg/atTg	0	validated		damaging	
ARID1A		inserm.fr	GRCh37	1	27056173	27056174	+	frameshift_variant	Frame_Shift_Ins	INS	-	T	T			CHC155T									Valid												ENST00000324856.7:c.1169dup	p.Met390IlefsTer10	p.M390Ifs*10	ENST00000324856	NM_006015.4	390	atg/atTg	0	validated		damaging	
CCDC178		inserm.fr	GRCh37	18	30913143	30913144	+	frameshift_variant	Frame_Shift_Ins	INS	-	T	T			CHC218T																					ENST00000383096.3:c.874dup	p.Met292AsnfsTer11	p.M292Nfs*11	ENST00000383096		291	-/A	0	validated		damaging	
AQR		inserm.fr	GRCh37	15	35178846	35178847	+	frameshift_variant	Frame_Shift_Ins	INS	-	T	T			CHC304T									Valid												ENST00000156471.5:c.2697_2698insA	p.Tyr900IlefsTer31	p.Y900Ifs*31	ENST00000156471	NM_014691.2	899	-/A	0	validated		damaging	
RRP7A		inserm.fr	GRCh37	22	42910686	42910687	+	splice_donor_variant	Splice_Site	INS	-	T	T			CHC1055T									Valid												ENST00000323013.6:c.558+1_558+2insA		p.X186_splice	ENST00000323013	NM_015703.4			0	validated		damaging	
SLC9A8		inserm.fr	GRCh37	20	48467301	48467302	+	frameshift_variant	Frame_Shift_Ins	INS	-	T	T			CHC1751T																					ENST00000417961.1:c.546dup	p.Val183CysfsTer14	p.V183Cfs*14	ENST00000417961	NM_015266.2	179	-/T	0	validated		damaging	
PCK1		inserm.fr	GRCh37	20	56138190	56138191	+	frameshift_variant	Frame_Shift_Ins	INS	-	T	T			BCM739T																					ENST00000319441.4:c.717_718insT	p.Leu240SerfsTer35	p.L240Sfs*35	ENST00000319441	NM_002591.3	239	-/T	0	validated		damaging	
UGT2B10		inserm.fr	GRCh37	4	69885511	69885512	+	non_coding_transcript_exon_variant	RNA	INS	-	T	T			CHC1185T																					ENST00000505092.1:n.622dup		*208*	ENST00000505092				0	validated		damaging	
DDX50		inserm.fr	GRCh37	10	70673842	70673843	+	frameshift_variant	Frame_Shift_Ins	INS	-	T	T			CHC1041T									Valid												ENST00000373585.3:c.976dup	p.Ser326PhefsTer21	p.S326Ffs*21	ENST00000373585	NM_024045.1	324	ctt/ctTt	0	validated		damaging	
OSGIN1		inserm.fr	GRCh37	16	83992870	83992871	+	frameshift_variant	Frame_Shift_Ins	INS	-	T	T			CHC1137T																					ENST00000361711.3:c.73_74insT	p.Gly25ValfsTer66	p.G25Vfs*66	ENST00000361711		25	ggc/gTgc	0	validated		damaging	
WDR96		inserm.fr	GRCh37	10	105938814	105938815	+	frameshift_variant	Frame_Shift_Ins	INS	-	T	T			BCB151T																					ENST00000357060.3:c.2433dup	p.Gln812ThrfsTer18	p.Q812Tfs*18	ENST00000357060	NM_025145.5	811	aaa/aaAa	0	validated		damaging	
SORT1		inserm.fr	GRCh37	1	109857311	109857312	+	frameshift_variant	Frame_Shift_Ins	INS	-	T	T			CHC1601T																					ENST00000256637.6:c.2340dup	p.Tyr781IlefsTer37	p.Y781Ifs*37	ENST00000256637	NM_002959.5	780	aaa/aaAa	0	not done		damaging	
TCF7L2		inserm.fr	GRCh37	10	114912162	114912163	+	frameshift_variant	Frame_Shift_Ins	INS	-	T	T			CHC155T									Valid												ENST00000543371.1:c.1232dup	p.Met411IlefsTer12	p.M411Ifs*12	ENST00000543371	NM_001198531.1	411	atg/atTg	0	validated		damaging	
C5		inserm.fr	GRCh37	9	123783896	123783897	+	frameshift_variant	Frame_Shift_Ins	INS	-	T	T			BCM769T																					ENST00000223642.1:c.1193dup	p.Asn398LysfsTer6	p.N398Kfs*6	ENST00000223642	NM_001735.2	398	aac/aAac	0				
CERKL		inserm.fr	GRCh37	2	182521671	182521672	+	frameshift_variant	Frame_Shift_Ins	INS	-	T	T			CHC1754T																					ENST00000339098.5:c.62_63insA	p.Pro22AlafsTer39	p.P22Afs*39	ENST00000339098		21	gcg/gcAg	0	validated		damaging	
AGFG1		inserm.fr	GRCh37	2	228389633	228389634	+	splice_region_variant,intron_variant	Splice_Region	INS	-	T	T			CHC1053T									Valid												ENST00000409979.2:c.694+2dup		p.X232_splice	ENST00000409979	NM_001135187.1			0	validated		damaging	
TSC2		inserm.fr	GRCh37	16	2122285	2122286	+	frameshift_variant	Frame_Shift_Ins	INS	-	TA	TA			CHC1604T																					ENST00000219476.3:c.2142_2143insAT	p.Glu715MetfsTer57	p.E715Mfs*57	ENST00000219476	NM_000548.3	714	cct/ccTAt	0	validated		damaging	
FLT3		inserm.fr	GRCh37	13	28609642	28609643	+	frameshift_variant	Frame_Shift_Ins	INS	-	TAAAAGGATC	TAAAAGGATC			BCB157T																					ENST00000241453.7:c.1586_1587insGATCCTTTTA	p.Asn530IlefsTer45	p.N530Ifs*45	ENST00000241453	NM_004119.2	529	tta/ttGATCCTTTTAa	0	validated		damaging	
TLR3		inserm.fr	GRCh37	4	187003851	187003852	+	frameshift_variant	Frame_Shift_Ins	INS	-	TATT	TATT			CHC736T									Valid												ENST00000296795.3:c.1011_1012insTATT	p.Ile338TyrfsTer11	p.I338Yfs*11	ENST00000296795	NM_003265.2	337	-/TATT	0	validated		damaging	
ZNRF3		inserm.fr	GRCh37	22	29445371	29445372	+	stop_gained,inframe_insertion	Nonsense_Mutation	INS	-	TCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGTCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAG	TCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGTCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAG			CHC1534T																					ENST00000544604.2:c.1202_1203insTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGTCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAG	p.Arg401_His402insGlnProProLysTerLeuGlyLeuGlnAlaCysValThrThrProGlyTerPheLeuTyrPheTerTerArgGlnGlyPheThrMetLeuAlaArg	p.R401_H402insQPPK*LGLQACVTTPG*FLYF**RQGFTMLAR	ENST00000544604	NM_001206998.1	401	cgg/cgTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGTCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGg	0	validated		damaging	
PEA15		inserm.fr	GRCh37	1	160183232	160183233	+	protein_altering_variant	In_Frame_Ins	INS	-	TCCGGCAGC	TCCGGCAGC			CHC303T									Valid												ENST00000360472.4:c.349_350insTCCGGCAGC	p.Glu117delinsValArgGlnGln	p.E117delinsVRQQ	ENST00000360472	NM_003768.3	117	gag/gTCCGGCAGCag	0	validated		damaging	
MTERFD2		inserm.fr	GRCh37	2	242029720	242029721	+	intron_variant	Intron	INS	-	TCTTCC	TCTTCC			CHC1152T																					ENST00000310397.8:c.*2-1333_*2-1332insTCTTCC		*1*	ENST00000310397	NM_001080437.1			0	validated		damaging	
NOP2		inserm.fr	GRCh37	12	6672866	6672867	+	inframe_insertion	In_Frame_Ins	INS	-	TGG	TGG			CHC2098T																					ENST00000382421.3:c.701_702insCAC	p.Pro234_Lys235insThr	p.P234_K235insT	ENST00000382421	NM_001258309.1	234	cca/cCCAca	0	validated		damaging	
SLITRK2		inserm.fr	GRCh37	X	144905187	144905188	+	frameshift_variant	Frame_Shift_Ins	INS	-	TGGA	TGGA			CHC1750T																					ENST00000370490.1:c.1244_1245insTGGA	p.Gln415HisfsTer23	p.Q415Hfs*23	ENST00000370490		415	cag/caTGGAg	0	not done		damaging	
NXPH4		inserm.fr	GRCh37	12	57619405	57619406	+	frameshift_variant	Frame_Shift_Ins	INS	-	TGGCTCTG	TGGCTCTG			CHC1079T																					ENST00000349394.5:c.802_803insTGGCTCTG	p.Trp268LeufsTer111	p.W268Lfs*111	ENST00000349394	NM_007224.3	268	tgg/tTGGCTCTGgg	0	validated		damaging	
ATP7B		inserm.fr	GRCh37	13	52548757	52548758	+	frameshift_variant	Frame_Shift_Ins	INS	-	TGGT	TGGT			CHC1744T																					ENST00000242839.4:c.599_600insCCAA	p.Val201GlnfsTer4	p.V201Qfs*4	ENST00000242839	NM_000053.3	200	cat/cACCAat	0	validated		damaging	
CCDC66		inserm.fr	GRCh37	3	56592937	56592938	+	inframe_insertion,splice_region_variant	In_Frame_Ins	INS	-	TGGTAT	TGGTAT			CHC1569T																					ENST00000394672.3:c.75_76insTGGTAT	p.Tyr25_Glu26insTrpTyr	p.Y25_E26insWY	ENST00000394672	NM_001141947.1	25	-/TGGTAT	0	not done		damaging	
MUC20		inserm.fr	GRCh37	3	195346050	195346051	+	non_coding_transcript_exon_variant	RNA	INS	-	TGGTCCCCGGGA	TGGTCCCCGGGA			CHC1753T																					ENST00000457750.1:n.626_627insTGGTCCCCGGGA		*209*	ENST00000457750				0	not done		damaging	
NHSL1		inserm.fr	GRCh37	6	138752952	138752953	+	frameshift_variant	Frame_Shift_Ins	INS	-	TT	TT			BCB231T																					ENST00000427025.2:c.2542_2543insAA	p.Arg848LysfsTer27	p.R848Kfs*27	ENST00000427025	NM_020464.1	847	-/AA	0	validated		damaging	
LEFTY2		inserm.fr	GRCh37	1	226127232	226127233	+	frameshift_variant	Frame_Shift_Ins	INS	-	TT	TT			CHC361TA									Valid												ENST00000366820.5:c.566_567insAA	p.Leu190SerfsTer2	p.L190Sfs*2	ENST00000366820	NM_003240.3	189	cag/cAAag	0	validated		damaging	
PSMD11		inserm.fr	GRCh37	17	30796186	30796187	+	stop_gained,inframe_insertion	Nonsense_Mutation	INS	-	TTTTAAAAAAATATTTCCTGTACTATTGACTAGAAATTAATATGAAAACCCTGC	TTTTAAAAAAATATTTCCTGTACTATTGACTAGAAATTAATATGAAAACCCTGC			CHC2200T																					ENST00000261712.3:c.618_619insTTTTAAAAAAATATTTCCTGTACTATTGACTAGAAATTAATATGAAAACCCTGC	p.Leu206_Gln207insPheTerLysAsnIleSerCysThrIleAspTerLysLeuIleTerLysProCys	p.L206_Q207insF*KNISCTID*KLI*KPC	ENST00000261712	NM_001270482.1	206	-/TTTTAAAAAAATATTTCCTGTACTATTGACTAGAAATTAATATGAAAACCCTGC	0	validated		damaging	
SYNM		inserm.fr	GRCh37	15	31906	31945	+		IGR	DEL	NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	-	-			BCB151T									Valid																			0	validated		damaging	
ATM		inserm.fr	GRCh37	11	112390	112392	+		IGR	DEL	TCT	-	-			CHC1010T																												0	validated		damaging	
PRKDC		inserm.fr	GRCh37	8	134508	134511	+		IGR	DEL	AAAA	-	-			BCM735T																												0	validated		damaging	
SDHA		inserm.fr	GRCh37	5	256525	256533	+	stop_lost,inframe_deletion	Nonstop_Mutation	DEL	GCTCCTACT	-	-			CHC1053T									Valid												ENST00000264932.6:c.1986_1994del	p.SerTyrTer663delextTer?	p.SY*663delext*?	ENST00000264932	NM_004168.2	662	cGCTCCTACTga/cga	0	validated		damaging	
AXIN1		inserm.fr	GRCh37	16	347850	347874	+	frameshift_variant	Frame_Shift_Del	DEL	GGCCTCCACCTGCTCCTTGGGCCGG	-	-			BCM501T									Valid												ENST00000262320.3:c.1632_1656del	p.Lys547ProfsTer150	p.K547Pfs*150	ENST00000262320	NM_003502.3	544	gcCCGGCCCAAGGAGCAGGTGGAGGCC/gc	0	validated		damaging	
AXIN1		inserm.fr	GRCh37	16	354381	354406	+	frameshift_variant	Frame_Shift_Del	DEL	TGAGCTCCTCCGCGAACTTCTGAGGC	-	-			CHC1053T									Valid												ENST00000262320.3:c.1152_1177del	p.Glu384AspfsTer31	p.E384Dfs*31	ENST00000262320	NM_003502.3	384	gaGCCTCAGAAGTTCGCGGAGGAGCTCAtc/gatc	0	validated		damaging	
CSNK2A1		inserm.fr	GRCh37	20	468162	468164	+	inframe_deletion	In_Frame_Del	DEL	GCT	-	-			BCM371T																					ENST00000217244.3:c.880_882del	p.Ser294del	p.S294del	ENST00000217244	NM_177559.2	294	AGC/-	0	validated		damaging	
CDC34		inserm.fr	GRCh37	19	541543	541548	+	inframe_deletion	In_Frame_Del	DEL	GGAGTC	-	-			CHC898T																					ENST00000215574.4:c.702_707del	p.Glu234_Ser236delinsAsp	p.E234_S236delinsD	ENST00000215574	NM_004359.1	234	gaGGAGTCc/gac	0	validated		damaging	
PIGQ		inserm.fr	GRCh37	16	633224	633243	+	frameshift_variant	Frame_Shift_Del	DEL	CCAGCCAGGCTGGCCGCACT	-	-			CHC1053T																					ENST00000026218.5:c.1876_1895del	p.Ala626SerfsTer75	p.A626Sfs*75	ENST00000026218	NM_148920.2	625	CCAGCCAGGCTGGCCGCACTc/c	0	validated		damaging	
DEAF1		inserm.fr	GRCh37	11	694956	694997	+	inframe_deletion	In_Frame_Del	DEL	GCCGCGGCCGCCGCCGCCACAGCGGCCGCGGCCGCCACCGCC	-	-			BCM689T									Valid												ENST00000382409.3:c.51_92del	p.Val19_Ala32del	p.V19_A32del	ENST00000382409	NM_021008.2	17	gcGGCGGTGGCGGCCGCGGCCGCTGTGGCGGCGGCGGCCGCGGCc/gcc	0	validated		damaging	
STUB1		inserm.fr	GRCh37	16	731512	731514	+	inframe_deletion	In_Frame_Del	DEL	AAG	-	-			BCM723T																					ENST00000219548.4:c.433_435del	p.Lys145del	p.K145del	ENST00000219548	NM_005861.2	145	AAG/-	0	validated		damaging	
LPPR3		inserm.fr	GRCh37	19	812897	812903	+	frameshift_variant	Frame_Shift_Del	DEL	CCCGCCG	-	-			CHC1739T																					ENST00000359894.2:c.1908_1914del	p.Gly637ProfsTer?	p.G637Pfs*?	ENST00000359894	NM_024888.2	636	ggCGGCGGG/gg	0	validated		damaging	
GPX4		inserm.fr	GRCh37	19	1105447	1105448	+	frameshift_variant	Frame_Shift_Del	DEL	GC	-	-			BCM275T									Valid												ENST00000354171.8:c.262_263del	p.Ala88ProfsTer?	p.A88Pfs*?	ENST00000354171	NM_001039847.1	88	GCc/c	0	validated		damaging	
ACAP3		inserm.fr	GRCh37	1	1231601	1231603	+	inframe_deletion	In_Frame_Del	DEL	TCA	-	-			CHC197T									Valid												ENST00000354700.5:c.1395_1397del	p.Glu466del	p.E466del	ENST00000354700	NM_030649.2	465	ccTGAg/ccg	0	validated		damaging	
TERT		inserm.fr	GRCh37	5	1295134	1295157	+	5_prime_UTR_variant	5'UTR	DEL	ACGTGCGCAGCAGGACGCAGCGCT	-	-			CHC1081T									Valid												ENST00000310581.5:c.-53_-30del		*18*	ENST00000310581	NM_198253.2			0	no detection		damaging	
MYO1C		inserm.fr	GRCh37	17	1383903	1383915	+	frameshift_variant	Frame_Shift_Del	DEL	ACTTTGGCACACT	-	-			CHC322T									Valid												ENST00000359786.5:c.812_824del	p.Gln271ProfsTer17	p.Q271Pfs*17	ENST00000359786	NM_001080779.1	271	cAGTGTGCCAAAGTc/cc	0	validated		damaging	
SIRPB2		inserm.fr	GRCh37	20	1459125	1459137	+	frameshift_variant	Frame_Shift_Del	DEL	CCACCTGATGGGT	-	-			CHC703T																					ENST00000359801.3:c.567_579del	p.Pro190SerfsTer6	p.P190Sfs*6	ENST00000359801	NM_001122962.1	189	ggACCCATCAGGTGG/gg	0	validated		damaging	
TMEM52		inserm.fr	GRCh37	1	1849526	1849530	+	frameshift_variant	Frame_Shift_Del	DEL	GCCAT	-	-			CHC884T									Valid												ENST00000310991.3:c.421_425del	p.Met141SerfsTer17	p.M141Sfs*17	ENST00000310991	NM_178545.3	141	ATGGCt/t	0	validated		damaging	
FAM108A1		inserm.fr	GRCh37	19	1880014	1880016	+	inframe_deletion	In_Frame_Del	DEL	AGG	-	-			CHC306T																					ENST00000250974.9:c.584_586del	p.Ser195del	p.S195del	ENST00000250974	NM_031213.3	195	tCCTac/tac	0	validated		damaging	
HS3ST6		inserm.fr	GRCh37	16	1968044	1968056	+	frameshift_variant	Frame_Shift_Del	DEL	AGCGCTTGCGGGA	-	-			CHC1725T																					ENST00000443547.1:c.176_188del	p.Phe59SerfsTer5	p.F59Sfs*5	ENST00000443547	NM_001009606.2	59	tTCCCGCAAGCGCTc/tc	0	validated		damaging	
TSC2		inserm.fr	GRCh37	16	2126173	2126193	+	splice_donor_variant,intron_variant	Splice_Site	DEL	TGGGCTCAGGGCCGGTGAAGG	-	-			BCM397T									Valid												ENST00000219476.3:c.2742+2_2742+22del		p.X914_splice	ENST00000219476	NM_000548.3			0	validated		damaging	
TSC2		inserm.fr	GRCh37	16	2134568	2134626	+	frameshift_variant	Frame_Shift_Del	DEL	TCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCC	-	-			CHC1210T																					ENST00000219476.3:c.4345_4403del	p.Ser1449IlefsTer55	p.S1449Ifs*55	ENST00000219476	NM_000548.3	1449	TCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCa/a	0	validated		damaging	
AMH		inserm.fr	GRCh37	19	2249590	2249612	+	frameshift_variant	Frame_Shift_Del	DEL	GTGCAGAGGGCCCGCTGGGGCCC	-	-			CHC2208T																					ENST00000221496.4:c.259_281del	p.Val87ProfsTer13	p.V87Pfs*13	ENST00000221496	NM_000479.3	87	GTGCAGAGGGCCCGCTGGGGCCCc/c	0	validated		damaging	
MLST8		inserm.fr	GRCh37	16	2257103	2257117	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CCCAACCAGGTGAGG	-	-			CHC1744T																					ENST00000569417.1:c.412_420+6del		p.X138_splice	ENST00000569417	NM_022372.4	138		0	validated		damaging	
METTL4		inserm.fr	GRCh37	18	2566829	2566833	+	frameshift_variant	Frame_Shift_Del	DEL	AATAG	-	-			CHC1775T																					ENST00000574538.1:c.383_387del	p.Ser128TyrfsTer6	p.S128Yfs*6	ENST00000574538	NM_022840.3	128	tCTATT/t	0	validated		damaging	
KCNV2		inserm.fr	GRCh37	9	2718539	2718556	+	inframe_deletion	In_Frame_Del	DEL	GCACCTTCGTGCTCGTCT	-	-			CHC218T																					ENST00000382082.3:c.800_817del	p.Ser267_Ser273delinsThr	p.S267_S273delinsT	ENST00000382082	NM_133497.3	267	aGCACCTTCGTGCTCGTCTcc/acc	0	validated		damaging	
FASTKD5		inserm.fr	GRCh37	20	3128718	3128719	+	frameshift_variant	Frame_Shift_Del	DEL	AG	-	-			CHC2141T																					ENST00000380266.3:c.998_999del	p.Ser333Ter	p.S333*	ENST00000380266	NM_021826.4	333	tCT/t	0	validated		damaging	
TRNT1		inserm.fr	GRCh37	3	3186284	3186287	+	frameshift_variant	Frame_Shift_Del	DEL	ATTT	-	-			CHC1616T																					ENST00000251607.6:c.498_501del	p.Phe167ThrfsTer9	p.F167Tfs*9	ENST00000251607	NM_182916.2	166	ttATTT/tt	0	validated		damaging	
TRAP1		inserm.fr	GRCh37	16	3740829	3740830	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	CT	-	-			CHC1531T																					ENST00000246957.5:c.245_246del	p.Gln82ArgfsTer7	p.Q82Rfs*7	ENST00000246957	NM_016292.2	82	cAG/c	0	validated		damaging	
CORO7		inserm.fr	GRCh37	16	4410467	4410483	+	frameshift_variant	Frame_Shift_Del	DEL	CGGGGCCTGTAGACCCG	-	-			BCM501T																					ENST00000251166.4:c.1984_2000del	p.Arg662GlufsTer4	p.R662Efs*4	ENST00000251166	NM_024535.4	662	CGGGTCTACAGGCCCCGg/g	0	validated		damaging	
PLIN5		inserm.fr	GRCh37	19	4523869	4523876	+	frameshift_variant	Frame_Shift_Del	DEL	GCGCGTGG	-	-			CHC889T																					ENST00000381848.3:c.1056_1063del	p.His353ArgfsTer49	p.H353Rfs*49	ENST00000381848	NM_001013706.2	352	gcCCACGCGCac/gcac	0	validated		damaging	
PTPRS		inserm.fr	GRCh37	19	5223087	5223101	+	inframe_deletion	In_Frame_Del	DEL	CAAGCCGGAACACAT	-	-			CHC1531T																					ENST00000357368.4:c.2702_2716del	p.Tyr901_Ala906delinsSer	p.Y901_A906delinsS	ENST00000357368	NM_002850.3	901	tATGTGTTCCGGCTTGcg/tcg	0	validated		damaging	
NPHP4		inserm.fr	GRCh37	1	5927902	5927919	+	inframe_deletion	In_Frame_Del	DEL	CCACAGTCAGGCAGAGCA	-	-			CHC1534T																					ENST00000378156.4:c.3353_3370del	p.Val1118_Val1123del	p.V1118_V1123del	ENST00000378156	NM_015102.3	1118	gTGCTCTGCCTGACTGTGGag/gag	0	validated		damaging	
MCM8		inserm.fr	GRCh37	20	5974267	5974274	+	frameshift_variant	Frame_Shift_Del	DEL	GTTGCTGA	-	-			CHC796T									Valid												ENST00000378896.3:c.2356_2363del	p.Val786LysfsTer4	p.V786Kfs*4	ENST00000378896	NM_001281520.1	786	GTTGCTGAa/a	0	validated		damaging	
CHD4		inserm.fr	GRCh37	12	6707447	6707449	+	inframe_deletion	In_Frame_Del	DEL	ACT	-	-			BCM791T																					ENST00000357008.2:c.1625_1627del	p.Gln542_Phe543delinsLeu	p.Q542_F543delinsL	ENST00000357008	NM_001273.2	542	cAGTtc/ctc	0	validated		damaging	
C3		inserm.fr	GRCh37	19	6714044	6714046	+	inframe_deletion	In_Frame_Del	DEL	GTA	-	-			CHC1736T																					ENST00000245907.6:c.730_732delTAC	p.Tyr244del	p.Y244del	ENST00000245907	NM_000064.2	244	TAC/-	0	validated		damaging	
C3		inserm.fr	GRCh37	19	6714044	6714046	+	inframe_deletion	In_Frame_Del	DEL	GTA	-	-			CHC896T																					ENST00000245907.6:c.730_732delTAC	p.Tyr244del	p.Y244del	ENST00000245907	NM_000064.2	244	TAC/-	0	validated		damaging	
PAPD7		inserm.fr	GRCh37	5	6737689	6737690	+	frameshift_variant	Frame_Shift_Del	DEL	AA	-	-			BCM723T																					ENST00000230859.6:c.33_34del	p.Glu13GlyfsTer17	p.E13Gfs*17	ENST00000230859	NM_001171805.1	11	agAAga/agga	0	validated		damaging	
SLC16A13		inserm.fr	GRCh37	17	6941603	6941614	+	inframe_deletion	In_Frame_Del	DEL	TCCAGTGGCTGC	-	-			CHC301T									Valid												ENST00000308027.6:c.478_489del	p.Gln160_Leu163del	p.Q160_L163del	ENST00000308027	NM_201566.2	159	tTCCAGTGGCTGCtc/ttc	0	validated		damaging	
INSR		inserm.fr	GRCh37	19	7117350	7117368	+	frameshift_variant	Frame_Shift_Del	DEL	AGGTTGACAATCTCCAGGA	-	-			CHC805T																					ENST00000302850.5:c.3848_3866del	p.Phe1283CysfsTer76	p.F1283Cfs*76	ENST00000302850	NM_000208.2	1283	tTCCTGGAGATTGTCAACCTg/tg	0	validated		damaging	
NLGN2		inserm.fr	GRCh37	17	7320357	7320362	+	inframe_deletion	In_Frame_Del	DEL	ATAGGC	-	-			CHC1774T																					ENST00000302926.2:c.1747_1752del	p.Ile583_Gly584del	p.I583_G584del	ENST00000302926	NM_020795.3	583	ATAGGC/-	0	validated		damaging	
RIOK1		inserm.fr	GRCh37	6	7414527	7414533	+	frameshift_variant	Frame_Shift_Del	DEL	TATTGGA	-	-			BCM397T																					ENST00000379834.2:c.1500_1506del	p.Asp500GlufsTer53	p.D500Efs*53	ENST00000379834	NM_031480.2	500	gaTATTGGA/ga	0	validated		damaging	
FXR2		inserm.fr	GRCh37	17	7504809	7504810	+	frameshift_variant	Frame_Shift_Del	DEL	AG	-	-			CHC1751T																					ENST00000250113.7:c.577_578del	p.Leu193AlafsTer3	p.L193Afs*3	ENST00000250113	NM_004860.3	193	CTg/g	0	validated		damaging	
TP53		inserm.fr	GRCh37	17	7576920	7576936	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GGCAGTGCTAGGAAAGA	-	-			CHC1720T									Valid												ENST00000269305.4:c.920-10_926del		p.X307_splice	ENST00000269305	NM_001126112.2			0	validated		damaging	
TP53		inserm.fr	GRCh37	17	7578535	7578537	+	inframe_deletion	In_Frame_Del	DEL	TTG	-	-			CHC1591T																					ENST00000269305.4:c.393_395delCAA	p.Asn131del	p.N131del	ENST00000269305	NM_001126112.2	131	aaCAAg/aag	0	validated		damaging	
TP53		inserm.fr	GRCh37	17	7579486	7579487	+	frameshift_variant	Frame_Shift_Del	DEL	TG	-	-			CHC1597T									Valid												ENST00000269305.4:c.200_201del	p.Pro67ArgfsTer81	p.P67Rfs*81	ENST00000269305	NM_001126112.2	67	cCA/c	0	validated		damaging	
DSP		inserm.fr	GRCh37	6	7580297	7580301	+	frameshift_variant	Frame_Shift_Del	DEL	GAGAT	-	-			CHC205T									Valid												ENST00000379802.3:c.3874_3878del	p.Glu1292ArgfsTer11	p.E1292Rfs*11	ENST00000379802	NM_004415.2	1292	GAGATa/a	0	validated		damaging	
DSP		inserm.fr	GRCh37	6	7580347	7580353	+	frameshift_variant	Frame_Shift_Del	DEL	GCACAAG	-	-			CHC1616T																					ENST00000379802.3:c.3924_3930del	p.His1309SerfsTer38	p.H1309Sfs*38	ENST00000379802	NM_004415.2	1308	cgGCACAAG/cg	0	validated		damaging	
CD163		inserm.fr	GRCh37	12	7653792	7653794	+	inframe_deletion	In_Frame_Del	DEL	CAT	-	-			CHC1545T																					ENST00000359156.4:c.398_400del	p.Asp133del	p.D133del	ENST00000359156	NM_004244.5	133	gATGga/gga	0	validated		damaging	
PER3		inserm.fr	GRCh37	1	7844939	7844957	+	frameshift_variant,start_lost	Frame_Shift_Del	DEL	TGCCCCGCGGGGAAGCTCC	-	-			CHC912T									Valid												ENST00000361923.2:c.4_22del	p.Pro2AlafsTer55	p.P2Afs*55	ENST00000361923	NM_016831.1	1	aTGCCCCGCGGGGAAGCTCCt/at	0	validated		damaging	
PTPRM		inserm.fr	GRCh37	18	7906534	7906542	+	inframe_deletion	In_Frame_Del	DEL	AAGGCTATC	-	-			CHC2115T																					ENST00000580170.1:c.500_508del	p.Gln167_Tyr169del	p.Q167_Y169del	ENST00000580170	NM_001105244.1	167	cAAGGCTATCtc/ctc	0	validated		damaging	
EVI5L		inserm.fr	GRCh37	19	7926882	7926887	+	inframe_deletion	In_Frame_Del	DEL	AGGAGC	-	-			CHC2103T																					ENST00000538904.2:c.1622_1627del	p.Gln541_Glu542del	p.Q541_E542del	ENST00000538904	NM_001159944.1	541	cAGGAGCtc/ctc	0	validated		damaging	
ERRFI1		inserm.fr	GRCh37	1	8074158	8074159	+	frameshift_variant	Frame_Shift_Del	DEL	TG	-	-			CHC1594T																					ENST00000377482.5:c.500_501del	p.Thr167ArgfsTer3	p.T167Rfs*3	ENST00000377482	NM_018948.3	167	aCA/a	0	validated		damaging	
HNRNPM		inserm.fr	GRCh37	19	8551094	8551105	+	inframe_deletion	In_Frame_Del	DEL	TGCCATGGGCCC	-	-			CHC902T																					ENST00000325495.4:c.1782_1793del	p.Met596_Ala599del	p.M596_A599del	ENST00000325495	NM_005968.4	594	ccTGCCATGGGCCCg/ccg	0	not done		damaging	
MUC16		inserm.fr	GRCh37	19	9082466	9082483	+	inframe_deletion	In_Frame_Del	DEL	GTGTGAAGGTTAACGTCT	-	-			CHC1753T																					ENST00000397910.4:c.9332_9349del	p.Gln3111_Thr3116del	p.Q3111_T3116del	ENST00000397910	NM_024690.2	3111	cAGACGTTAACCTTCACACca/cca	0	not done		damaging	
PHC1		inserm.fr	GRCh37	12	9086508	9086520	+	frameshift_variant	Frame_Shift_Del	DEL	GGAGAGAGATGAT	-	-			CHC1065T									Valid												ENST00000543824.1:c.1942_1954del	p.Glu648SerfsTer15	p.E648Sfs*15	ENST00000543824		647	gaGGAGAGAGATGAT/ga	0	validated		damaging	
FANCD2OS		inserm.fr	GRCh37	3	10145954	10145968	+	inframe_deletion	In_Frame_Del	DEL	ACTTTTTGTAAGTTG	-	-			CHC1616T																					ENST00000450660.2:c.491_505del	p.Ala164_Cys169delinsGly	p.A164_C169delinsG	ENST00000450660	NM_001164839.1	164	gCAACTTACAAAAAGTgc/ggc	0	validated		damaging	
KEAP1		inserm.fr	GRCh37	19	10599949	10599950	+	frameshift_variant	Frame_Shift_Del	DEL	TC	-	-			CHC1592T									Valid												ENST00000171111.5:c.1626_1627delGA	p.Glu542AspfsTer31	p.E542Dfs*31	ENST00000171111	NM_203500.1	542	gaGAcg/gacg	0	not done		damaging	
KEAP1		inserm.fr	GRCh37	19	10602589	10602590	+	frameshift_variant	Frame_Shift_Del	DEL	GT	-	-			BCM617T																					ENST00000171111.5:c.988_989del	p.Thr330ArgfsTer19	p.T330Rfs*19	ENST00000171111	NM_203500.1	330	ACc/c	0	validated		damaging	
ANKRD33B		inserm.fr	GRCh37	5	10638271	10638318	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	ATGCTAGCAGGTATGTCCACCTGTCCTGTGCAGCTTCCAGGGGCCCTG	-	-			CHC1753T																					ENST00000296657.5:c.628_637+38del		p.X210_splice	ENST00000296657	NM_001164440.1	210		0	not done		damaging	
AP1M2		inserm.fr	GRCh37	19	10685674	10685688	+	inframe_deletion	In_Frame_Del	DEL	AAGTGGGCTCGCATC	-	-			BCB325T									Valid												ENST00000250244.6:c.1065_1079del	p.Leu355_His359del	p.L355_H359del	ENST00000250244	NM_005498.4	355	ttGATGCGAGCCCACTTt/ttt	0	validated		damaging	
TAS2R13		inserm.fr	GRCh37	12	11061530	11061540	+	frameshift_variant	Frame_Shift_Del	DEL	TTCAAATAGAG	-	-			CHC059T									Valid												ENST00000390677.2:c.358_368del	p.Leu120ValfsTer37	p.L120Vfs*37	ENST00000390677	NM_023920.2	120	CTCTATTTGAAg/g	0	validated		damaging	
PQLC3		inserm.fr	GRCh37	2	11317953	11317984	+	stop_lost,3_prime_UTR_variant	Nonstop_Mutation	DEL	GATGGATACATTATTCCTTCACACAGTGGATT	-	-			BCM325T																					ENST00000295083.3:c.608_*30del		*203*	ENST00000295083	NM_152391.3	203		0	validated		damaging	
HS3ST1		inserm.fr	GRCh37	4	11401185	11401193	+	inframe_deletion	In_Frame_Del	DEL	GGTCTCGCA	-	-			CHC1052T									Valid												ENST00000002596.5:c.437_445del	p.Leu146_Asp148del	p.L146_D148del	ENST00000002596	NM_005114.2	146	cTGCGAGACCcg/ccg	0	validated		damaging	
PRB2		inserm.fr	GRCh37	12	11546856	11546858	+	inframe_deletion	In_Frame_Del	DEL	AGA	-	-			CHC1190T																					ENST00000389362.4:c.154_156delTCT	p.Ser52del	p.S52del	ENST00000389362	NM_006248.3	52	TCT/-	0	validated		damaging	
USP6NL		inserm.fr	GRCh37	10	11567405	11567420	+	frameshift_variant	Frame_Shift_Del	DEL	TGTGACTTTGTAAACA	-	-			CHC1594T																					ENST00000277575.5:c.171_186del	p.Val58IlefsTer33	p.V58Ifs*33	ENST00000277575	NM_001080491.2	57	ctTGTTTACAAAGTCACA/ct	0	validated		damaging	
GNAL		inserm.fr	GRCh37	18	11881114	11881131	+	inframe_deletion	In_Frame_Del	DEL	AAGCAGTATGAGCTCTTG	-	-			CHC1604T																					ENST00000334049.6:c.1357_1374del	p.Lys453_Leu458del	p.K453_L458del	ENST00000334049	NM_182978.3	453	AAGCAGTATGAGCTCTTG/-	0	validated		damaging	
CPPED1		inserm.fr	GRCh37	16	12798856	12798871	+	frameshift_variant	Frame_Shift_Del	DEL	CCCTAAGCACTCGCTT	-	-			CHC1725T																					ENST00000381774.4:c.325_340del	p.Lys109GlnfsTer64	p.K109Qfs*64	ENST00000381774	NM_018340.2	109	AAGCGAGTGCTTAGGGca/ca	0	validated		damaging	
IQSEC1		inserm.fr	GRCh37	3	12942758	12942760	+	intron_variant	Intron	DEL	GGC	-	-			CHC1154T																					ENST00000273221.4:c.2847+1513_2847+1515del		*949*	ENST00000273221	NM_014869.5			0	validated		damaging	
CEP192		inserm.fr	GRCh37	18	13052993	13053008	+	frameshift_variant	Frame_Shift_Del	DEL	GTGCTCGCCTGCTGGG	-	-			CHC304T									Valid												ENST00000506447.1:c.3096_3111del	p.Cys1032Ter	p.C1032*	ENST00000506447	NM_032142.3	1031	gtGTGCTCGCCTGCTGGG/gt	0	validated		damaging	
BOD1L1		inserm.fr	GRCh37	4	13578516	13578524	+	inframe_deletion	In_Frame_Del	DEL	TCTTCCTCT	-	-			CHC1719T																					ENST00000040738.5:c.8976_8984del	p.Glu2993_Glu2995del	p.E2993_E2995del	ENST00000040738	NM_148894.2	2992	gaAGAGGAAGAg/gag	0	not done		damaging	
ATF7IP		inserm.fr	GRCh37	12	14619476	14619480	+	frameshift_variant	Frame_Shift_Del	DEL	AACAA	-	-			BCM371T																					ENST00000261168.4:c.2814_2818del	p.Lys938AsnfsTer7	p.K938Nfs*7	ENST00000261168	NM_018179.3	938	aaAACAAta/aata	0	validated		damaging	
PLA2G10		inserm.fr	GRCh37	16	14766516	14766520	+	frameshift_variant	Frame_Shift_Del	DEL	TACTT	-	-			CHC432T																					ENST00000438167.3:c.442_446del	p.Lys148ProfsTer9	p.K148Pfs*9	ENST00000438167	NM_003561.1	148	AAGTAc/c	0	validated		damaging	
H2AFJ		inserm.fr	GRCh37	12	14927631	14927633	+	inframe_deletion	In_Frame_Del	DEL	AGA	-	-			CHC891T																					ENST00000544848.1:c.227_229del	p.Lys76del	p.K76del	ENST00000544848	NM_177925.2	76	aAGAcc/acc	0	validated		damaging	
ANKRD28		inserm.fr	GRCh37	3	15749512	15749541	+	stop_gained,inframe_deletion	Nonsense_Mutation	DEL	CCCACAAGAGCAAACAGGCACTGGTAATTG	-	-			CHC314T									Valid												ENST00000399451.2:c.1347_1376del	p.Cys449_Gly459delinsTer	p.C449_G459delins*	ENST00000399451	NM_015199.3	449	tgCAATTACCAGTGCCTGTTTGCTCTTGTGGGa/tga	0	validated		damaging	
MTMR7		inserm.fr	GRCh37	8	17161961	17161963	+	inframe_deletion	In_Frame_Del	DEL	GAG	-	-			BCM483T									Valid												ENST00000180173.5:c.1418_1420del	p.Pro473del	p.P473del	ENST00000180173	NM_004686.4	473	cCTCtg/ctg	0	validated		damaging	
CROCC		inserm.fr	GRCh37	1	17292337	17292340	+	frameshift_variant	Frame_Shift_Del	DEL	GGGG	-	-			CHC304T									Valid												ENST00000375541.5:c.4525_4528del	p.Gly1509ProfsTer26	p.G1509Pfs*26	ENST00000375541	NM_014675.3	1509	GGGGcc/cc	0	validated		damaging	
ARHGEF10L		inserm.fr	GRCh37	1	17953930	17953944	+	inframe_deletion	In_Frame_Del	DEL	CTGGCTGACCAGGTG	-	-			CHC2113T																					ENST00000361221.3:c.1516_1530del	p.Leu506_Val510del	p.L506_V510del	ENST00000361221	NM_018125.3	506	CTGGCTGACCAGGTG/-	0	validated		damaging	
SLC5A5		inserm.fr	GRCh37	19	18001700	18001715	+	frameshift_variant	Frame_Shift_Del	DEL	ACCAAGCGCAGCACCC	-	-			CHC703T																					ENST00000222248.3:c.1657_1672del	p.Thr553TrpfsTer146	p.T553Wfs*146	ENST00000222248	NM_000453.2	553	ACCAAGCGCAGCACCCtg/tg	0	validated		damaging	
LCORL		inserm.fr	GRCh37	4	18023327	18023339	+	frameshift_variant	Frame_Shift_Del	DEL	GGCAGCAGCGGCG	-	-			CHC1629T																					ENST00000382226.5:c.36_48del	p.Ala13ProfsTer35	p.A13Pfs*35	ENST00000382226	NM_001166139.1	12	gcCGCCGCTGCTGCC/gc	0	validated		damaging	
ARMC6		inserm.fr	GRCh37	19	19168330	19168331	+	frameshift_variant	Frame_Shift_Del	DEL	GC	-	-			CHC614T									Valid												ENST00000535612.1:c.1399_1400del	p.Ala467ProfsTer3	p.A467Pfs*3	ENST00000535612	NM_001199196.1	467	GCc/c	0	validated		damaging	
AKR7A3		inserm.fr	GRCh37	1	19615114	19615136	+	frameshift_variant	Frame_Shift_Del	DEL	TGCGGCGCTGGTGGGCGCGTCCA	-	-			CHC218T																					ENST00000361640.4:c.68_90delTGGACGCGCCCACCAGCGCCGCA	p.Met23SerfsTer45	p.M23Sfs*45	ENST00000361640	NM_012067.2	23	aTGGACGCGCCCACCAGCGCCGCA/a	0	validated		damaging	
AKAP10		inserm.fr	GRCh37	17	19812566	19812583	+	inframe_deletion	In_Frame_Del	DEL	CTTCCAAGCTAGCTCTTC	-	-			CHC302T									Valid												ENST00000225737.6:c.1894_1911del	p.Glu632_Lys637del	p.E632_K637del	ENST00000225737	NM_007202.3	632	GAAGAGCTAGCTTGGAAG/-	0	validated		damaging	
WDR35		inserm.fr	GRCh37	2	20133266	20133267	+	frameshift_variant	Frame_Shift_Del	DEL	CT	-	-			CHC1736T																					ENST00000345530.3:c.2586_2587del	p.Ala863ThrfsTer10	p.A863Tfs*10	ENST00000345530	NM_001006657.1	862	atAGca/atca	0	validated		damaging	
RPS6KA3		inserm.fr	GRCh37	X	20195158	20195159	+	frameshift_variant	Frame_Shift_Del	DEL	CT	-	-			CHC2115T																					ENST00000379565.3:c.889_890delAG	p.Leu298PhefsTer21	p.L298Ffs*21	ENST00000379565	NM_004586.2	297	AGt/t	0	validated		damaging	
OR4Q3		inserm.fr	GRCh37	14	20215625	20215640	+	frameshift_variant	Frame_Shift_Del	DEL	TCTTCTGGGCCTATCA	-	-			CHC793T									Valid												ENST00000331723.1:c.45_60del	p.Leu17SerfsTer23	p.L17Sfs*23	ENST00000331723	NM_172194.1	13	gtTCTTCTGGGCCTATCA/gt	0	validated		damaging	
RALGAPA2		inserm.fr	GRCh37	20	20507002	20507014	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GGAAACTATAAAA	-	-			CHC253T									Valid												ENST00000202677.7:c.3583-8_3587del		p.X1195_splice	ENST00000202677	NM_020343.3			0	validated		damaging	
ACSM2B		inserm.fr	GRCh37	16	20552065	20552080	+	frameshift_variant	Frame_Shift_Del	DEL	GCGAGGCCAGGATCAC	-	-			CHC1600T																					ENST00000329697.6:c.1525_1540del	p.Val509SerfsTer18	p.V509Sfs*18	ENST00000329697	NM_001105069.1	509	GTGATCCTGGCCTCGCag/ag	0	validated		damaging	
KLHL22		inserm.fr	GRCh37	22	20819839	20819869	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	AGCAGAAATGGATAATTTCTGGGATCTGCAG	-	-			BCM339T																					ENST00000328879.4:c.394-6_418del		p.X132_splice	ENST00000328879	NM_032775.3			0	validated		damaging	
RIOK3		inserm.fr	GRCh37	18	21061214	21061232	+	frameshift_variant	Frame_Shift_Del	DEL	GGAGACCCACCACTACTAT	-	-			CHC1566T																					ENST00000339486.3:c.1531_1549del	p.Gly511MetfsTer22	p.G511Mfs*22	ENST00000339486	NM_003831.3	511	GGAGACCCACCACTACTATat/at	0	validated		damaging	
IFT88		inserm.fr	GRCh37	13	21148528	21148530	+	inframe_deletion	In_Frame_Del	DEL	ATG	-	-			BCM769T																					ENST00000319980.6:c.31_33del	p.Met11del	p.M11del	ENST00000319980	NM_175605.3	11	ATG/-	0	validated		damaging	
APOB		inserm.fr	GRCh37	2	21228042	21228044	+	inframe_deletion	In_Frame_Del	DEL	CAC	-	-			CHC2352T																					ENST00000233242.1:c.11696_11698del	p.Ser3899_Ala3900delinsThr	p.S3899_A3900delinsT	ENST00000233242	NM_000384.2	3899	aGTGcc/acc	0	not done		damaging	
APOB		inserm.fr	GRCh37	2	21228967	21228976	+	frameshift_variant	Frame_Shift_Del	DEL	GAGTTCCAGG	-	-			CHC1148T																					ENST00000233242.1:c.10764_10773del	p.Glu3590HisfsTer30	p.E3590Hfs*30	ENST00000233242	NM_000384.2	3588	acCCTGGAACTC/ac	0	validated		damaging	
APOB		inserm.fr	GRCh37	2	21229120	21229122	+	inframe_deletion	In_Frame_Del	DEL	ATC	-	-			BCM321T																					ENST00000233242.1:c.10618_10620del	p.Asp3540del	p.D3540del	ENST00000233242	NM_000384.2	3540	GAT/-	0	validated		damaging	
APOB		inserm.fr	GRCh37	2	21230419	21230421	+	inframe_deletion	In_Frame_Del	DEL	GTT	-	-			CHC2358T																					ENST00000233242.1:c.9319_9321del	p.Asn3107del	p.N3107del	ENST00000233242	NM_000384.2	3107	AAC/-	0	validated		damaging	
CRKL		inserm.fr	GRCh37	22	21272404	21272416	+	frameshift_variant	Frame_Shift_Del	DEL	ACATCATCAACTC	-	-			CHC303T																					ENST00000354336.3:c.182_194del	p.Tyr61CysfsTer86	p.Y61Cfs*86	ENST00000354336	NM_005207.3	61	tACATCATCAACTCg/tg	0	validated		damaging	
LAMA3		inserm.fr	GRCh37	18	21437950	21437961	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	AAGGTAAGAGAG	-	-			CHC303T									Valid												ENST00000313654.9:c.4280_4281+10del		p.X1427_splice	ENST00000313654	NM_198129.1	1427		0	validated		damaging	
ECE1		inserm.fr	GRCh37	1	21554420	21554422	+	splice_donor_variant,intron_variant	Splice_Site	DEL	CTA	-	-			CHC2115T																					ENST00000374893.6:c.1781+2_1781+4del		p.X594_splice	ENST00000374893	NM_001397.2			0	validated		damaging	
DNAH11		inserm.fr	GRCh37	7	21627745	21627752	+	frameshift_variant	Frame_Shift_Del	DEL	TACAGCAC	-	-			CHC896T																					ENST00000328843.6:c.1774_1781del	p.Tyr592ThrfsTer6	p.Y592Tfs*6	ENST00000328843		592	TACAGCACa/a	0	validated		damaging	
MTAP		inserm.fr	GRCh37	9	21854866	21854869	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	AGCA	-	-			BCM371T									Valid												ENST00000380172.4:c.687_690del	p.Ala230PhefsTer7	p.A230Ffs*7	ENST00000380172	NM_002451.3	229	gaAGCA/ga	0	validated		damaging	
MLLT10		inserm.fr	GRCh37	10	21884341	21884344	+	frameshift_variant	Frame_Shift_Del	DEL	AGTC	-	-			CHC1185T																					ENST00000307729.7:c.377_380del	p.Gln126LeufsTer29	p.Q126Lfs*29	ENST00000307729		126	cAGTCt/ct	0	validated		damaging	
CDKN2A		inserm.fr	GRCh37	9	21971148	21971155	+	frameshift_variant	Frame_Shift_Del	DEL	GGGCTCCG	-	-			BCM683T																					ENST00000304494.5:c.203_210del	p.Ala68GlufsTer49	p.A68Efs*49	ENST00000304494	NM_000077.4	68	gCGGAGCCC/g	0	validated		damaging	
CDKN2A		inserm.fr	GRCh37	9	21974711	21974728	+	inframe_deletion	In_Frame_Del	DEL	TTGGGCAGCGCCCCCGCC	-	-			BCB325T									Valid												ENST00000304494.5:c.99_116del	p.Glu33_Asn39delinsAsp	p.E33_N39delinsD	ENST00000304494	NM_000077.4	33	gaGGCGGGGGCGCTGCCCAAc/gac	0	validated		damaging	
EEF2K		inserm.fr	GRCh37	16	22268988	22268990	+	inframe_deletion	In_Frame_Del	DEL	TCT	-	-			BCM723T																					ENST00000263026.5:c.926_928del	p.Phe309del	p.F309del	ENST00000263026	NM_013302.3	309	tTCTac/tac	0	validated		damaging	
SVIP		inserm.fr	GRCh37	11	22849413	22849417	+	frameshift_variant	Frame_Shift_Del	DEL	TTCTC	-	-			CHC794T									Valid												ENST00000354193.4:c.58_62del	p.Glu20LysfsTer52	p.E20Kfs*52	ENST00000354193	NM_148893.1	20	GAGAAa/a	0	validated		damaging	
SSTR4		inserm.fr	GRCh37	20	23017086	23017099	+	frameshift_variant	Frame_Shift_Del	DEL	CCAGCGGGTTCTCT	-	-			CHC2362T																					ENST00000255008.3:c.966_979del	p.Phe322LeufsTer14	p.F322Lfs*14	ENST00000255008	NM_001052.2	322	ttCCAGCGGGTTCTCTgc/ttgc	0	validated		damaging	
HOMEZ		inserm.fr	GRCh37	14	23744827	23744829	+	inframe_deletion	In_Frame_Del	DEL	TCC	-	-			CHC1774T																					ENST00000357460.5:c.1608_1610del	p.Glu537del	p.E537del	ENST00000357460	NM_020834.2	536	gaGGAa/gaa	0	validated		damaging	
HOMEZ		inserm.fr	GRCh37	14	23744827	23744829	+	inframe_deletion	In_Frame_Del	DEL	TCC	-	-			CHC1601T																					ENST00000357460.5:c.1608_1610del	p.Glu537del	p.E537del	ENST00000357460	NM_020834.2	536	gaGGAa/gaa	0	not done		damaging	
UBE2E1		inserm.fr	GRCh37	3	23848896	23848897	+	frameshift_variant	Frame_Shift_Del	DEL	TC	-	-			BCB231T																					ENST00000306627.3:c.136_137del	p.Ser46HisfsTer20	p.S46Hfs*20	ENST00000306627	NM_003341.4	46	TCc/c	0	validated		damaging	
ATAD2B		inserm.fr	GRCh37	2	24011447	24011450	+	frameshift_variant	Frame_Shift_Del	DEL	CTTC	-	-			CHC2099T																					ENST00000238789.5:c.2708_2711del	p.Arg903LysfsTer7	p.R903Kfs*7	ENST00000238789	NM_001242338.1	903	aGAAGa/aa	0	validated		damaging	
C22orf15		inserm.fr	GRCh37	22	24106496	24106498	+	inframe_deletion	In_Frame_Del	DEL	GGA	-	-			CHC1568T																					ENST00000402217.3:c.162_164del	p.Glu54del	p.E54del	ENST00000402217	NM_182520.2	54	gaGGAc/gac	0	validated		damaging	
MFSD2B		inserm.fr	GRCh37	2	24239066	24239067	+	frameshift_variant	Frame_Shift_Del	DEL	AA	-	-			CHC1205T																					ENST00000406420.3:c.263_264del	p.Lys88SerfsTer7	p.K88Sfs*7	ENST00000406420	NM_001080473.1	88	aAA/a	0	validated		damaging	
KAAG1		inserm.fr	GRCh37	6	24357995	24358007	+	frameshift_variant	Frame_Shift_Del	DEL	CGCCTCAGCTCGC	-	-			CHC896T																					ENST00000274766.1:c.128_140del	p.Pro43LeufsTer30	p.P43Lfs*30	ENST00000274766	NM_181337.3	43	cCGCCTCAGCTCGCt/ct	0	validated		damaging	
CABIN1		inserm.fr	GRCh37	22	24515357	24515373	+	frameshift_variant	Frame_Shift_Del	DEL	AGTACAGAAGGCTTCCG	-	-			CHC1534T																					ENST00000398319.2:c.4324_4340del	p.Ser1442GlyfsTer55	p.S1442Gfs*55	ENST00000398319	NM_001199281.1	1442	AGTACAGAAGGCTTCCGg/g	0	validated		damaging	
REC8		inserm.fr	GRCh37	14	24641804	24641859	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TTTGCCACCATCTGGTAAGGGCGGGGCCCGTTGGCGCGCGATGGCGGACGCTGCCC	-	-			CHC303T									Valid												ENST00000311457.3:c.43_56+42del		p.X15_splice	ENST00000311457		15		0	validated		damaging	
MPP6		inserm.fr	GRCh37	7	24689323	24689325	+	inframe_deletion	In_Frame_Del	DEL	GTT	-	-			BCM275T									Valid												ENST00000222644.5:c.363_365del	p.Leu123del	p.L123del	ENST00000222644		121	caGTTa/caa	0	validated		damaging	
CIDEB		inserm.fr	GRCh37	14	24775663	24775668	+	inframe_deletion	In_Frame_Del	DEL	CCACTG	-	-			CHC1082T																					ENST00000336557.5:c.248_253del	p.Ala83_Val84del	p.A83_V84del	ENST00000336557		83	gCAGTGGac/gac	0	validated		damaging	
KHNYN		inserm.fr	GRCh37	14	24899949	24899954	+	inframe_deletion	In_Frame_Del	DEL	GGGGCC	-	-			CHC1569T																					ENST00000251343.5:c.13_18del	p.Gly5_Ala6del	p.G5_A6del	ENST00000251343		5	GGGGCC/-	0	not done		damaging	
PIWIL3		inserm.fr	GRCh37	22	25155858	25155869	+	inframe_deletion	In_Frame_Del	DEL	TGCTCCTCCTCT	-	-			CHC1596T																					ENST00000332271.5:c.190_201delAGAGGAGGAGCA	p.Arg64_Ala67del	p.R64_A67del	ENST00000332271	NM_001255975.1	64	AGAGGAGGAGCA/-	0	validated		damaging	
ABHD12		inserm.fr	GRCh37	20	25284212	25284221	+	frameshift_variant	Frame_Shift_Del	DEL	CCGGGTCGTC	-	-			BCB157T									Valid												ENST00000376542.3:c.994_1003del	p.Asp332TrpfsTer51	p.D332Wfs*51	ENST00000376542	NM_015600.4	332	GACGACCCGGtg/tg	0	validated		damaging	
DNMT3A		inserm.fr	GRCh37	2	25457166	25457169	+	frameshift_variant	Frame_Shift_Del	DEL	CTCC	-	-			BCM501T																					ENST00000264709.3:c.2718_2721del	p.Lys906AsnfsTer15	p.K906Nfs*15	ENST00000264709	NM_175629.2	906	aaGGAG/aa	0	validated		damaging	
ADRBK2		inserm.fr	GRCh37	22	26074812	26074813	+	frameshift_variant	Frame_Shift_Del	DEL	GG	-	-			CHC1592T																					ENST00000324198.6:c.677_678del	p.Arg226AsnfsTer13	p.R226Nfs*13	ENST00000324198	NM_005160.3	226	aGG/a	0	not done		damaging	
HIST1H2BC		inserm.fr	GRCh37	6	26124111	26124125	+	inframe_deletion	In_Frame_Del	DEL	CAGACTTGGCTGGCT	-	-			CHC896T																					ENST00000314332.5:c.8_22del	p.Glu3_Ser7del	p.E3_S7del	ENST00000314332		3	gAGCCAGCCAAGTCTGct/gct	0	validated		damaging	
RASSF8		inserm.fr	GRCh37	12	26217436	26217437	+	frameshift_variant	Frame_Shift_Del	DEL	AC	-	-			CHC361TA									Valid												ENST00000405154.2:c.109_110del	p.Thr37TrpfsTer13	p.T37Wfs*13	ENST00000405154	NM_001164748.1	37	ACt/t	0	validated		damaging	
HIST1H2AE		inserm.fr	GRCh37	6	26217542	26217549	+	frameshift_variant	Frame_Shift_Del	DEL	GCCGTATT	-	-			CHC304T									Valid												ENST00000303910.2:c.342_349del	p.Val115AlafsTer2	p.V115Afs*2	ENST00000303910	NM_021052.2	114	GCCGTATTg/g	0	validated		damaging	
ARID1A		inserm.fr	GRCh37	1	27022925	27022950	+	frameshift_variant	Frame_Shift_Del	DEL	AGCAGCCTGGGCAACCCGCCGCCGCC	-	-			CHC1545T									Valid												ENST00000324856.7:c.31_56del	p.Ser11AlafsTer91	p.S11Afs*91	ENST00000324856	NM_006015.4	11	AGCAGCCTGGGCAACCCGCCGCCGCCg/g	0	no detection		damaging	
ARID1A		inserm.fr	GRCh37	1	27023214	27023223	+	frameshift_variant	Frame_Shift_Del	DEL	CGGGCCCTAG	-	-			CHC1053T									Valid												ENST00000324856.7:c.320_329del	p.Ala107GlyfsTer4	p.A107Gfs*4	ENST00000324856	NM_006015.4	107	gCGGGCCCTAGg/gg	0	no detection		damaging	
ARID1A		inserm.fr	GRCh37	1	27023209	27023228	+	frameshift_variant	Frame_Shift_Del	DEL	GAACGCGGGCCCTAGGCCCG	-	-			CHC121T									Valid												ENST00000324856.7:c.315_334del	p.Asn106ProfsTer4	p.N106Pfs*4	ENST00000324856	NM_006015.4	105	ggGAACGCGGGCCCTAGGCCCGcc/ggcc	0	no detection		damaging	
ARID1A		inserm.fr	GRCh37	1	27023626	27023638	+	frameshift_variant	Frame_Shift_Del	DEL	GGCGGCTGCCGGC	-	-			CHC1534T									Valid												ENST00000324856.7:c.732_744del	p.Ala245ProfsTer114	p.A245Pfs*114	ENST00000324856	NM_006015.4	244	gcGGCGGCTGCCGGC/gc	0	no detection		damaging	
ARID1A		inserm.fr	GRCh37	1	27023923	27023937	+	inframe_deletion	In_Frame_Del	DEL	AGCTGCGGCGGCGGC	-	-			CHC434T									Valid												ENST00000324856.7:c.1029_1043del	p.Ala345_Ala349del	p.A345_A349del	ENST00000324856	NM_006015.4	343	gcAGCTGCGGCGGCGGCc/gcc	0	no detection		damaging	
TRAF4		inserm.fr	GRCh37	17	27076424	27076428	+	stop_gained,frameshift_variant	Nonsense_Mutation	DEL	GAAGA	-	-			CHC1545T																					ENST00000262395.5:c.1242_1246del	p.Trp414Ter	p.W414*	ENST00000262395	NM_004295.3	414	tgGAAGAat/tgat	0	validated		damaging	
ARID1A		inserm.fr	GRCh37	1	27087888	27087906	+	frameshift_variant	Frame_Shift_Del	DEL	ACCTCGGCCACCCAGTGGC	-	-			CHC1568T									Valid												ENST00000324856.7:c.2175_2193del	p.Pro726SerfsTer10	p.P726Sfs*10	ENST00000324856	NM_006015.4	725	ccACCTCGGCCACCCAGTGGC/cc	0	validated		damaging	
ARID1A		inserm.fr	GRCh37	1	27099938	27099962	+	frameshift_variant	Frame_Shift_Del	DEL	ATGGGACCACGACAGCACTATCCCT	-	-			CHC205T									Valid												ENST00000324856.7:c.3821_3845del	p.Gly1274GlufsTer7	p.G1274Efs*7	ENST00000324856	NM_006015.4	1273	ATGGGACCACGACAGCACTATCCCTat/at	0	validated		damaging	
ARID1A		inserm.fr	GRCh37	1	27101360	27101372	+	frameshift_variant	Frame_Shift_Del	DEL	CATGGCACACGCC	-	-			BCM321T																					ENST00000324856.7:c.4642_4654del	p.His1548SerfsTer13	p.H1548Sfs*13	ENST00000324856	NM_006015.4	1548	CATGGCACACGCCag/ag	0	validated		damaging	
ARID1A		inserm.fr	GRCh37	1	27105822	27105832	+	frameshift_variant	Frame_Shift_Del	DEL	GCTTCCAGTAA	-	-			CHC805T									Valid												ENST00000324856.7:c.5433_5443del	p.Leu1812AspfsTer6	p.L1812Dfs*6	ENST00000324856	NM_006015.4	1811	aaGCTTCCAGTAAag/aaag	0	validated		damaging	
ARID1A		inserm.fr	GRCh37	1	27107163	27107181	+	frameshift_variant	Frame_Shift_Del	DEL	GTTGGACATCTCGGTATCA	-	-			CHC303T									Valid												ENST00000324856.7:c.6774_6792del	p.Leu2259ArgfsTer2	p.L2259Rfs*2	ENST00000324856	NM_006015.4	2258	ctGTTGGACATCTCGGTATCA/ct	0	validated		damaging	
GTF3C1		inserm.fr	GRCh37	16	27506107	27506123	+	frameshift_variant	Frame_Shift_Del	DEL	GGATGAAGATGGAGAGG	-	-			CHC1595T																					ENST00000356183.4:c.2739_2755del	p.Leu914AspfsTer70	p.L914Dfs*70	ENST00000356183	NM_001520.3	913	ccCCTCTCCATCTTCATCCag/ccag	0	validated		damaging	
EIF2B4		inserm.fr	GRCh37	2	27590642	27590666	+	frameshift_variant	Frame_Shift_Del	DEL	ATCCCTGGAGAGTTCTTCATTAGGC	-	-			CHC2127T																					ENST00000451130.2:c.789_813del	p.Pro264Ter	p.P264*	ENST00000451130	NM_172195.3	263	ccGCCTAATGAAGAACTCTCCAGGGAT/cc	0	validated		damaging	
ZKSCAN4		inserm.fr	GRCh37	6	28219641	28219666	+	frameshift_variant	Frame_Shift_Del	DEL	TCACCTCCGCCGTCAAGGCGGAGGCT	-	-			CHC1040T																					ENST00000377294.2:c.93_118del	p.Ala32SerfsTer45	p.A32Sfs*45	ENST00000377294	NM_019110.3	31	gaAGCCTCCGCCTTGACGGCGGAGGTGAga/gaga	0	validated		damaging	
SCAND3		inserm.fr	GRCh37	6	28543902	28543910	+	inframe_deletion	In_Frame_Del	DEL	ACAAAAATG	-	-			CHC303T									Valid												ENST00000452236.2:c.572_580del	p.Ser191_Leu193del	p.S191_L193del	ENST00000452236	NM_052923.1	191	tCATTTTTGTgg/tgg	0	validated		damaging	
FLT1		inserm.fr	GRCh37	13	28942717	28942719	+	intron_variant	Intron	DEL	ATG	-	-			CHC1186T																					ENST00000282397.4:c.2117-10897_2117-10895delCAT		*706*	ENST00000282397	NM_002019.4			0	validated		damaging	
TRIM15		inserm.fr	GRCh37	6	30139696	30139698	+	inframe_deletion	In_Frame_Del	DEL	AGA	-	-			BCM723T																					ENST00000376694.4:c.968_970del	p.Lys323del	p.K323del	ENST00000376694	NM_033229.2	323	aAGAgc/agc	0	validated		damaging	
UTP6		inserm.fr	GRCh37	17	30207749	30207751	+	inframe_deletion	In_Frame_Del	DEL	ATC	-	-			CHC1774T																					ENST00000261708.4:c.808_810del	p.Asp270del	p.D270del	ENST00000261708	NM_018428.2	270	GAT/-	0	validated		damaging	
SUZ12		inserm.fr	GRCh37	17	30315437	30315462	+	frameshift_variant	Frame_Shift_Del	DEL	CAAACCTCTTGCCACTAGAAATTCAG	-	-			CHC303T									Valid												ENST00000322652.5:c.1122_1147del	p.Lys375GlufsTer12	p.K375Efs*12	ENST00000322652	NM_015355.2	374	gcCAAACCTCTTGCCACTAGAAATTCAGag/gcag	0	validated		damaging	
SUZ12		inserm.fr	GRCh37	17	30323881	30323882	+	frameshift_variant	Frame_Shift_Del	DEL	AT	-	-			BCM399T									Valid												ENST00000322652.5:c.1859_1860del	p.His620ArgfsTer9	p.H620Rfs*9	ENST00000322652	NM_015355.2	620	cAT/c	0	validated		damaging	
TBC1D10B		inserm.fr	GRCh37	16	30369373	30369375	+	inframe_deletion	In_Frame_Del	DEL	CTT	-	-			BCM723T																					ENST00000409939.3:c.2317_2319del	p.Lys773del	p.K773del	ENST00000409939	NM_015527.3	773	AAG/-	0	validated		damaging	
HMGB1		inserm.fr	GRCh37	13	31035510	31035512	+	inframe_deletion	In_Frame_Del	DEL	TCT	-	-			CHC1602T																					ENST00000405805.1:c.630_632del	p.Glu210del	p.E210del	ENST00000405805		210	gaAGAt/gat	0	validated		damaging	
PRSS36		inserm.fr	GRCh37	16	31151902	31151917	+	frameshift_variant	Frame_Shift_Del	DEL	GGGGAGGGCTCCACCC	-	-			CHC304T									Valid												ENST00000268281.4:c.2063_2078del	p.Arg688HisfsTer40	p.R688Hfs*40	ENST00000268281	NM_173502.4	688	cGGGTGGAGCCCTCCCCa/ca	0	validated		damaging	
KPNA6		inserm.fr	GRCh37	1	32620321	32620329	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	AAGTGAGTT	-	-			CHC320T									Valid												ENST00000373625.3:c.138+1_138+9del		p.X46_splice	ENST00000373625	NM_012316.4	46		0	validated		damaging	
ZNF507		inserm.fr	GRCh37	19	32844870	32844874	+	frameshift_variant	Frame_Shift_Del	DEL	TACAT	-	-			CHC1601T																					ENST00000311921.4:c.1134_1138del	p.Thr379SerfsTer11	p.T379Sfs*11	ENST00000311921	NM_014910.4	378	ctTACATca/ctca	0	not done		damaging	
BRD2		inserm.fr	GRCh37	6	32947895	32947902	+	frameshift_variant	Frame_Shift_Del	DEL	CCCGGAAG	-	-			CHC798T									Valid												ENST00000395289.2:c.2240_2247del	p.Arg747LeufsTer4	p.R747Lfs*4	ENST00000395289		746	cCCCGGAAG/c	0	validated		damaging	
ITGB1		inserm.fr	GRCh37	10	33217112	33217114	+	inframe_deletion	In_Frame_Del	DEL	AAG	-	-			BCB111T									Valid												ENST00000396033.2:c.455_457del	p.Ser152del	p.S152del	ENST00000396033	NM_133376.2	152	tCTTac/tac	0	validated		damaging	
NCOA6		inserm.fr	GRCh37	20	33356321	33356368	+	inframe_deletion	In_Frame_Del	DEL	CCATGGGTCCATTCATTCTCACATCTTGGCTTCGGTTCTGAGCCAAAG	-	-			BCM399T									Valid												ENST00000374796.2:c.413_460del	p.Ala138_Met153del	p.A138_M153del	ENST00000374796		138	gCTTTGGCTCAGAACCGAAGCCAAGATGTGAGAATGAATGGACCCATGGga/gga	0	validated		damaging	
NOL6		inserm.fr	GRCh37	9	33462807	33462825	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GAGGCCTGGGGAAATCAGA	-	-			CHC2127T																					ENST00000297990.4:c.3292-14_3296del		p.X1098_splice	ENST00000297990	NM_022917.4			0	validated		damaging	
PEPD		inserm.fr	GRCh37	19	33892737	33892741	+	frameshift_variant	Frame_Shift_Del	DEL	GAAGC	-	-			CHC1725T																					ENST00000244137.7:c.853_857del	p.Ala285ArgfsTer21	p.A285Rfs*21	ENST00000244137	NM_000285.3	285	GCTTCc/c	0	validated		damaging	
C21orf59		inserm.fr	GRCh37	21	33976503	33976508	+	inframe_deletion	In_Frame_Del	DEL	TGGGGT	-	-			BCM337T																					ENST00000290155.3:c.461_466del	p.Tyr154_Met156delinsLeu	p.Y154_M156delinsL	ENST00000290155	NM_021254.2	154	tACCCCAtg/ttg	0	validated		damaging	
GDF5		inserm.fr	GRCh37	20	34025193	34025198	+	inframe_deletion	In_Frame_Del	DEL	GTACTC	-	-			CHC1725T																					ENST00000374372.1:c.511_516del	p.Glu171_Tyr172del	p.E171_Y172del	ENST00000374372		171	GAGTAC/-	0	validated		damaging	
CNTFR		inserm.fr	GRCh37	9	34556361	34556362	+	frameshift_variant	Frame_Shift_Del	DEL	GC	-	-			BCM337T																					ENST00000378980.3:c.659_660del	p.Arg220ProfsTer14	p.R220Pfs*14	ENST00000378980	NM_147164.2	220	cGC/c	0	validated		damaging	
SNRPC		inserm.fr	GRCh37	6	34738111	34738140	+	inframe_deletion	In_Frame_Del	DEL	GGGCCCTCCCATGATGCCAATGATGGGCCC	-	-			CHC1741T																					ENST00000244520.5:c.294_323del	p.Gly99_Pro108del	p.G99_P108del	ENST00000244520	NM_003093.2	98	ggGGGCCCTCCCATGATGCCAATGATGGGCCCt/ggt	0	validated		damaging	
BRIX1		inserm.fr	GRCh37	5	34924974	34925054	+	inframe_deletion	In_Frame_Del	DEL	TTGTAGAAATAGGACCTCGTTTTGTCTTAAATCTCATAAAGATTTTCCAGGGAAGTTTTGGAGGACCAACTTTATATGAAA	-	-			BCM739T									Valid												ENST00000336767.5:c.686_766del	p.Leu229_Asn256delinsHis	p.L229_N256delinsH	ENST00000336767	NM_018321.3	229	cTTGTAGAAATAGGACCTCGTTTTGTCTTAAATCTCATAAAGATTTTCCAGGGAAGTTTTGGAGGACCAACTTTATATGAAAat/cat	0	validated		damaging	
ATOSB		inserm.fr	GRCh37	9	35107957	35107958	+	frameshift_variant	Frame_Shift_Del	DEL	CT	-	-			CHC614T									Valid												ENST00000378561.1:c.314_315del	p.Glu105GlyfsTer26	p.E105Gfs*26	ENST00000378561		105	gAG/g	0	validated		damaging	
CREM		inserm.fr	GRCh37	10	35495954	35495955	+	frameshift_variant	Frame_Shift_Del	DEL	CG	-	-			BCM275T									Valid												ENST00000345491.3:c.730_731del	p.Glu245AlafsTer43	p.E245Afs*43	ENST00000345491	NM_181571.2	244	CGa/a	0	validated		damaging	
CREM		inserm.fr	GRCh37	10	35500608	35500614	+	frameshift_variant	Frame_Shift_Del	DEL	TCGAAAG	-	-			BCM791T																					ENST00000345491.3:c.780_786del	p.Arg261LysfsTer4	p.R261Kfs*4	ENST00000345491	NM_181571.2	260	cgTCGAAAG/cg	0	validated		damaging	
LHFPL5		inserm.fr	GRCh37	6	35773589	35773596	+	frameshift_variant	Frame_Shift_Del	DEL	TACTGGAT	-	-			CHC303T									Valid												ENST00000360215.1:c.142_149del	p.Tyr48ArgfsTer21	p.Y48Rfs*21	ENST00000360215	NM_182548.3	48	TACTGGATc/c	0	validated		damaging	
NFKBIA		inserm.fr	GRCh37	14	35872403	35872413	+	frameshift_variant	Frame_Shift_Del	DEL	CAGGACTGAGT	-	-			CHC1186T																					ENST00000216797.5:c.490_500del	p.Thr164HisfsTer41	p.T164Hfs*41	ENST00000216797	NM_020529.2	164	ACTCAGTCCTGc/c	0	validated		damaging	
KIAA0319L		inserm.fr	GRCh37	1	35900653	35900669	+	frameshift_variant	Frame_Shift_Del	DEL	TACTTAGCAAAAGGCCT	-	-			CHC1091T																					ENST00000325722.3:c.2976_2992del	p.Gly993GlnfsTer13	p.G993Qfs*13	ENST00000325722	NM_024874.4	992	aaAGGCCTTTTGCTAAGTAgc/aagc	0	validated		damaging	
HNF1B		inserm.fr	GRCh37	17	36070533	36070555	+	frameshift_variant	Frame_Shift_Del	DEL	AGATTGTGGCCTGGGTCCAGGCT	-	-			CHC433T									Valid												ENST00000225893.4:c.1162_1184del	p.Ser388ProfsTer4	p.S388Pfs*4	ENST00000225893	NM_001165923.1	388	AGCCTGGACCCAGGCCACAATCTc/c	0	validated		damaging	
EEPD1		inserm.fr	GRCh37	7	36194225	36194231	+	frameshift_variant	Frame_Shift_Del	DEL	ATCTGTG	-	-			CHC902T																					ENST00000242108.4:c.292_298del	p.Ile98Ter	p.I98*	ENST00000242108	NM_030636.2	98	ATCTGTGtg/tg	0	not done		damaging	
U2AF1L4		inserm.fr	GRCh37	19	36235244	36235255	+	inframe_deletion	In_Frame_Del	DEL	CGAGGTGGTCCC	-	-			CHC1010T																					ENST00000292879.5:c.200_211del	p.Gly67_Leu70del	p.G67_L70del	ENST00000292879	NM_144987.2	67	gGGGACCACCTCGtg/gtg	0	validated		damaging	
DCLK1		inserm.fr	GRCh37	13	36428687	36428692	+	inframe_deletion	In_Frame_Del	DEL	GCCTGA	-	-			CHC2034T																					ENST00000255448.4:c.979_984del	p.Ser327_Gly328del	p.S327_G328del	ENST00000255448	NM_004734.4	327	TCAGGC/-	0	validated		damaging	
GPR179		inserm.fr	GRCh37	17	36483259	36483260	+	frameshift_variant	Frame_Shift_Del	DEL	TC	-	-			CHC1592T																					ENST00000342292.4:c.6192_6193del	p.Glu2064AspfsTer31	p.E2064Dfs*31	ENST00000342292	NM_001004334.2	2064	gaGAtg/gatg	0	not done		damaging	
CDKN1A		inserm.fr	GRCh37	6	36651913	36651917	+	frameshift_variant	Frame_Shift_Del	DEL	CATGC	-	-			CHC909T																					ENST00000244741.5:c.35_39del	p.Pro12ArgfsTer22	p.P12Rfs*22	ENST00000244741	NM_000389.4	12	cCATGC/c	0	validated		damaging	
CDKN1A		inserm.fr	GRCh37	6	36651924	36651927	+	frameshift_variant	Frame_Shift_Del	DEL	AAGG	-	-			CHC1201T																					ENST00000244741.5:c.46_49del	p.Lys16ProfsTer14	p.K16Pfs*14	ENST00000244741	NM_000389.4	16	AAGGcc/cc	0	validated		damaging	
CDKN1A		inserm.fr	GRCh37	6	36651925	36651948	+	inframe_deletion	In_Frame_Del	DEL	AGGCCTGCCGCCGCCTCTTCGGCC	-	-			CHC909T																					ENST00000244741.5:c.47_70del	p.Lys16_Pro24delinsThr	p.K16_P24delinsT	ENST00000244741	NM_000389.4	16	aAGGCCTGCCGCCGCCTCTTCGGCCca/aca	0	validated		damaging	
CDKN1A		inserm.fr	GRCh37	6	36652126	36652133	+	frameshift_variant	Frame_Shift_Del	DEL	GGCGAGGC	-	-			CHC1201T																					ENST00000244741.5:c.248_255del	p.Arg83ProfsTer3	p.R83Pfs*3	ENST00000244741	NM_000389.4	83	cGGCGAGGC/c	0	validated		damaging	
THRAP3		inserm.fr	GRCh37	1	36762259	36762260	+	frameshift_variant	Frame_Shift_Del	DEL	GA	-	-			BCM723T									Valid												ENST00000354618.5:c.2191_2192del	p.Asp731SerfsTer2	p.D731Sfs*2	ENST00000354618	NM_005119.3	731	GAt/t	0	validated		damaging	
ELMO1		inserm.fr	GRCh37	7	36934615	36934618	+	frameshift_variant	Frame_Shift_Del	DEL	TGCA	-	-			CHC1183T																					ENST00000310758.4:c.1442_1445del	p.Met481ArgfsTer3	p.M481Rfs*3	ENST00000310758	NM_014800.10	481	aTGCAg/ag	0	validated		damaging	
ZNF260		inserm.fr	GRCh37	19	37005943	37006004	+	frameshift_variant	Frame_Shift_Del	DEL	TCGAGAGCACACTTTACCACATTCAGTGCATTCATGAGATTTCTCTCCAGTATGCATTTTCT	-	-			CHC793T									Valid												ENST00000523638.1:c.137_198del	p.Lys46SerfsTer9	p.K46Sfs*9	ENST00000523638	NM_001166038.1	46	aAGAAAATGCATACTGGAGAGAAATCTCATGAATGCACTGAATGTGGTAAAGTGTGCTCTCGA/a	0	validated		damaging	
TMPRSS6		inserm.fr	GRCh37	22	37471310	37471311	+	frameshift_variant	Frame_Shift_Del	DEL	AG	-	-			CHC465T									Valid												ENST00000346753.3:c.1233_1234del	p.Leu412AlafsTer63	p.L412Afs*63	ENST00000346753	NM_153609.2	411	ggCTtg/ggtg	0	validated		damaging	
EXOSC8		inserm.fr	GRCh37	13	37580091	37580097	+	frameshift_variant	Frame_Shift_Del	DEL	GAGATTC	-	-			CHC1148T																					ENST00000389704.3:c.273_279del	p.Arg92GlyfsTer25	p.R92Gfs*25	ENST00000389704	NM_181503.2	91	tcGAGATTC/tc	0	validated		damaging	
SFRP4		inserm.fr	GRCh37	7	37956048	37956053	+	inframe_deletion	In_Frame_Del	DEL	ATAGGG	-	-			CHC801T																					ENST00000436072.2:c.87_92del	p.Ile29_Pro30del	p.I29_P30del	ENST00000436072	NM_003014.3	29	atCCCTATg/atg	0	validated		damaging	
VILL		inserm.fr	GRCh37	3	38035398	38035434	+	frameshift_variant	Frame_Shift_Del	DEL	ATGGTGCCGGTACCCGAGGGGGCTTACGGGAACTTTT	-	-			BCM543T																					ENST00000283713.6:c.70_106del	p.Met24LeufsTer85	p.M24Lfs*85	ENST00000283713		24	ATGGTGCCGGTACCCGAGGGGGCTTACGGGAACTTTTtt/tt	0	validated		damaging	
OXSR1		inserm.fr	GRCh37	3	38207413	38207419	+	frameshift_variant	Frame_Shift_Del	DEL	GATTACG	-	-			CHC1028T																					ENST00000311806.3:c.46_52del	p.Asp16SerfsTer5	p.D16Sfs*5	ENST00000311806	NM_005109.2	16	GATTACGag/ag	0	validated		damaging	
ZNF33A		inserm.fr	GRCh37	10	38343810	38343830	+	inframe_deletion	In_Frame_Del	DEL	GGAGAACTTTGTGTGATAGTT	-	-			CHC1629T																					ENST00000374618.3:c.758_778del	p.Gly253_Ser260delinsAla	p.G253_S260delinsA	ENST00000374618	NM_001278178.1	253	gGGAGAACTTTGTGTGATAGTTca/gca	0	validated		damaging	
DNAH8		inserm.fr	GRCh37	6	38795966	38795975	+	frameshift_variant	Frame_Shift_Del	DEL	TATGCTATTT	-	-			CHC434T									Valid												ENST00000359357.3:c.3441_3450del	p.Tyr1147Ter	p.Y1147*	ENST00000359357		1147	TATGCTATTTta/ta	0	validated		damaging	
RYR1		inserm.fr	GRCh37	19	39056218	39056238	+	inframe_deletion	In_Frame_Del	DEL	CCGCGGAGGGCGCTGGAGACG	-	-			CHC1749T																					ENST00000359596.3:c.13244_13264del	p.Ala4415_Asp4421del	p.A4415_D4421del	ENST00000359596		4415	gCCGCGGAGGGCGCTGGAGACGag/gag	0	validated		damaging	
NPTXR		inserm.fr	GRCh37	22	39224457	39224501	+	inframe_deletion	In_Frame_Del	DEL	TGGGCACAGCAGAGACTGGGGCTGGGGCAGCTGAGAGGTTCACAC	-	-			CHC1040T																					ENST00000333039.2:c.641_685del	p.Arg214_Thr229delinsPro	p.R214_T229delinsP	ENST00000333039	NM_014293.3	214	cGTGTGAACCTCTCAGCTGCCCCAGCCCCAGTCTCTGCTGTGCCCAcc/ccc	0	validated		damaging	
MAP4K3		inserm.fr	GRCh37	2	39515340	39515365	+	frameshift_variant	Frame_Shift_Del	DEL	CTGACATGGGACATCTCTTGATTGTT	-	-			CHC798T									Valid												ENST00000263881.3:c.1371_1396del	p.Thr458GlufsTer11	p.T458Efs*11	ENST00000263881	NM_003618.3	457	ggAACAATCAAGAGATGTCCCATGTCAGgg/gggg	0	validated		damaging	
TRAPPC6B		inserm.fr	GRCh37	14	39623417	39623464	+	inframe_deletion,splice_region_variant	In_Frame_Del	DEL	TAGATGCATGTTCTAAATACTGTTTTCCTGCAGACATCTGAGTAAGCA	-	-			CHC2127T																					ENST00000330149.5:c.302_349del	p.Leu101_Lys117delinsGln	p.L101_K117delinsQ	ENST00000330149	NM_001079537.1	101	cTGCTTACTCAGATGTCTGCAGGAAAACAGTATTTAGAACATGCATCTAag/cag	0	validated		damaging	
TAB1		inserm.fr	GRCh37	22	39811067	39811074	+	frameshift_variant	Frame_Shift_Del	DEL	CTCAGCCT	-	-			CHC303T									Valid												ENST00000216160.6:c.91_98del	p.Ser31GlnfsTer7	p.S31Qfs*7	ENST00000216160	NM_006116.2	30	ggCTCAGCCTcc/ggcc	0	validated		damaging	
BCOR		inserm.fr	GRCh37	X	39932300	39932312	+	frameshift_variant	Frame_Shift_Del	DEL	TCTCGGAAAACCG	-	-			BCM337T																					ENST00000378444.4:c.2287_2299del	p.Arg763PhefsTer19	p.R763Ffs*19	ENST00000378444	NM_001123385.1	763	CGGTTTTCCGAGAtt/tt	0	validated		damaging	
MYRIP		inserm.fr	GRCh37	3	40211442	40211456	+	inframe_deletion,splice_region_variant	In_Frame_Del	DEL	TTATACGAAAACAGA	-	-			CHC1629T																					ENST00000302541.6:c.731_745del	p.Ile244_Gln248del	p.I244_Q248del	ENST00000302541	NM_015460.2	244	aTTATACGAAAACAGAag/aag	0	validated		damaging	
MYRIP		inserm.fr	GRCh37	3	40231337	40231352	+	frameshift_variant	Frame_Shift_Del	DEL	AGCCCCGACGGGAACT	-	-			CHC301T									Valid												ENST00000302541.6:c.1048_1063del	p.Ser350GlyfsTer4	p.S350Gfs*4	ENST00000302541	NM_015460.2	350	AGCCCCGACGGGAACTgg/gg	0	validated		damaging	
SRP14		inserm.fr	GRCh37	15	40328564	40328575	+	inframe_deletion	In_Frame_Del	DEL	TGCTGTTGTTGG	-	-			CHC2128T																					ENST00000267884.6:c.370_381delCCAACAACAGCA	p.Pro124_Ala127del	p.P124_A127del	ENST00000267884	NM_003134.4	124	CCAACAACAGCA/-	0	not done		damaging	
MFSD2A		inserm.fr	GRCh37	1	40431557	40431568	+	inframe_deletion	In_Frame_Del	DEL	GCTGGGCACGGC	-	-			CHC884T									Valid												ENST00000372809.5:c.625_636del	p.Leu209_Ala212del	p.L209_A212del	ENST00000372809	NM_001136493.1	208	gtGCTGGGCACGGCg/gtg	0	validated		damaging	
MAP3K10		inserm.fr	GRCh37	19	40698248	40698262	+	inframe_deletion	In_Frame_Del	DEL	ATCGGTGTGGGGGGC	-	-			BCM739T																					ENST00000253055.3:c.310_324del	p.Ile104_Gly108del	p.I104_G108del	ENST00000253055	NM_002446.3	104	ATCGGTGTGGGGGGC/-	0	validated		damaging	
USP9X		inserm.fr	GRCh37	X	41000584	41000599	+	frameshift_variant	Frame_Shift_Del	DEL	CACTGAATGAAGTTAA	-	-			CHC2113T																					ENST00000324545.8:c.1061_1076del	p.Ala354ValfsTer3	p.A354Vfs*3	ENST00000324545	NM_001039590.2	354	gCACTGAATGAAGTTAAt/gt	0	validated		damaging	
USP9X		inserm.fr	GRCh37	X	41091750	41091753	+	frameshift_variant	Frame_Shift_Del	DEL	ATCC	-	-			CHC2099T																					ENST00000324545.8:c.7686_7689del	p.Ser2563HisfsTer75	p.S2563Hfs*75	ENST00000324545	NM_001039590.2	2562	gtATCC/gt	0	validated		damaging	
VAT1		inserm.fr	GRCh37	17	41174211	41174219	+	inframe_deletion	In_Frame_Del	DEL	GGCGGCGGC	-	-			CHC2215T																					ENST00000355653.3:c.121_129del	p.Ala41_Ala43del	p.A41_A43del	ENST00000355653	NM_006373.3	41	GCCGCCGCC/-	0	validated		damaging	
CTNNB1		inserm.fr	GRCh37	3	41265745	41265999	+	intron_variant	Intron	DEL	CCAGCAGGAATCTAGTCTGGATGACTGCTTCTGGAGCCTGGATGCAGTACCATTCTTCCACTGATTCAGTGAGTAACTGTTAGGTGGTTCCCTAAGGGATTAGGTATTTCATCACTGAGCTAACCCTGGCTATCATTCTGCTTTTCTTGGCTGTCTTTCAGATTTGACTTTATTTCTAAAAATATTTCAATGGGTCATATCACAGATTCTTTTTTTTTAAATTAAAGTAACATTTCCAATCTACTAATGCTAATA	-	-			CHC1763T									Valid												ENST00000349496.5:c.13+174_14-17del		*5*	ENST00000349496	NM_001904.3			0	validated		damaging	
CTNNB1		inserm.fr	GRCh37	3	41266095	41266109	+	inframe_deletion	In_Frame_Del	DEL	TGGACTCTGGAATCC	-	-			CHC1915T									Valid												ENST00000349496.5:c.92_106del	p.Leu31_Ile35del	p.L31_I35del	ENST00000349496	NM_001904.3	31	cTGGACTCTGGAATCCat/cat	0	validated		damaging	
CTNNB1		inserm.fr	GRCh37	3	41266112	41266114	+	inframe_deletion	In_Frame_Del	DEL	TCT	-	-			BCB111T									Valid												ENST00000349496.5:c.109_111del	p.Ser37del	p.S37del	ENST00000349496	NM_001904.3	37	TCT/-	0	validated		damaging	
CTNNB1		inserm.fr	GRCh37	3	41266068	41266196	+	inframe_deletion	In_Frame_Del	DEL	TTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATG	-	-			CHC432T									Valid												ENST00000349496.5:c.65_193del	p.Val22_Tyr64del	p.V22_Y64del	ENST00000349496	NM_001904.3	22	gTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGag/gag	0	validated		damaging	
CTNNB1		inserm.fr	GRCh37	3	41265950	41266204	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	ATTCTTTTTTTTTAAATTAAAGTAACATTTCCAATCTACTAATGCTAATACTGTTTCGTATTTATAGCTGATTTGATGGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGAGTGGGAA	-	-			CHC1744T									Valid												ENST00000349496.5:c.14-67_201del		p.X5_splice	ENST00000349496	NM_001904.3			0	no detection		damaging	
CTNNB1		inserm.fr	GRCh37	3	41265566	41265820	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	ACTCAAGGTTTGTGTCATTAAATCTTTAGTTACTGAATTGGGGCTCTGCTTCGTTGCCATTAAGCCAGTCTGGCTGAGATCCCCCTGCTTTCCTCTCTCCCTGCTTACTTGTCAGGCTACCTTTTGCTCCATTTTCTGCTCACTCCTCCTAATGGCTTGGTGAAATAGCAAACAAGCCACCAGCAGGAATCTAGTCTGGATGACTGCTTCTGGAGCCTGGATGCAGTACCATTCTTCCACTGATTCAGTGAGTAA	-	-			CHC2321T									Valid												ENST00000349496.5:c.7_14-197del		p.X3_splice	ENST00000349496	NM_001904.3	3		0	not done		damaging	
CTNNB1		inserm.fr	GRCh37	3	41265566	41265820	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	ACTCAAGGTTTGTGTCATTAAATCTTTAGTTACTGAATTGGGGCTCTGCTTCGTTGCCATTAAGCCAGTCTGGCTGAGATCCCCCTGCTTTCCTCTCTCCCTGCTTACTTGTCAGGCTACCTTTTGCTCCATTTTCTGCTCACTCCTCCTAATGGCTTGGTGAAATAGCAAACAAGCCACCAGCAGGAATCTAGTCTGGATGACTGCTTCTGGAGCCTGGATGCAGTACCATTCTTCCACTGATTCAGTGAGTAA	-	-			CHC361TA									Valid												ENST00000349496.5:c.7_14-197del		p.X3_splice	ENST00000349496	NM_001904.3	3		0	not done		damaging	
CTNNB1		inserm.fr	GRCh37	3	41266032	41266286	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGAGTGGGAACAGGGATTTTCTCAGTCCTTCACTCAAGAACAAGTAGCTGGTAAGAGTATTATTTTTCATTGCCTTACTGAAAGTCAGAATG	-	-			CHC2111T									Valid												ENST00000349496.5:c.29_241+42del		p.X10_splice	ENST00000349496	NM_001904.3	10		0	validated		damaging	
CTNNB1		inserm.fr	GRCh37	3	41265573	41266633	+	splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GTTTGTGTCATTAAATCTTTAGTTACTGAATTGGGGCTCTGCTTCGTTGCCATTAAGCCAGTCTGGCTGAGATCCCCCTGCTTTCCTCTCTCCCTGCTTACTTGTCAGGCTACCTTTTGCTCCATTTTCTGCTCACTCCTCCTAATGGCTTGGTGAAATAGCAAACAAGCCACCAGCAGGAATCTAGTCTGGATGACTGCTTCTGGAGCCTGGATGCAGTACCATTCTTCCACTGATTCAGTGAGTAACTGTTAGGTGGTTCCCTAAGGGATTAGGTATTTCATCACTGAGCTAACCCTGGCTATCATTCTGCTTTTCTTGGCTGTCTTTCAGATTTGACTTTATTTCTAAAAATATTTCAATGGGTCATATCACAGATTCTTTTTTTTTAAATTAAAGTAACATTTCCAATCTACTAATGCTAATACTGTTTCGTATTTATAGCTGATTTGATGGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGAGTGGGAACAGGGATTTTCTCAGTCCTTCACTCAAGAACAAGTAGCTGGTAAGAGTATTATTTTTCATTGCCTTACTGAAAGTCAGAATGCAGTTTTGAGAACTAAAAAGTTAGTGTATAATAGTTTAAATAAAATGTTGTGGTGAAGAAAAGAGAGTAATAGCAATGTCACTTTTACCATTTAGGATAGCAAATACTTAGGTAAATGCTGAACTGTGGATAGTGAGTGTTGAATTAACCTTTTCCAGATATTGATGGACAGTATGCAATGACTCGAGCTCAGAGGGTACGAGCTGCTATGTTCCCTGAGACATTAGATGAGGGCATGCAGATCCCATCTACACAGTTTGATGCTGCTCATCCCACTAATGTCCAGCGTTTGGCTGAACCATCACAGATGCTGAAACATGCAGTTGTAAACTTGATTAACTATCAAG	-	-			CHC2043T									Valid												ENST00000349496.5:c.13+1_430del		p.X5_splice	ENST00000349496	NM_001904.3			0	validated		damaging	
CTNNB1		inserm.fr	GRCh37	3	41266068	41266322	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGAGTGGGAACAGGGATTTTCTCAGTCCTTCACTCAAGAACAAGTAGCTGGTAAGAGTATTATTTTTCATTGCCTTACTGAAAGTCAGAATGCAGTTTTGAGAACTAAAAAGTTAGTGTATAATAGTT	-	-			CHC2213T									Valid												ENST00000349496.5:c.66_241+79del		p.X22_splice	ENST00000349496	NM_001904.3	22		0	validated		damaging	
KAT6A		inserm.fr	GRCh37	8	41795039	41795049	+	frameshift_variant	Frame_Shift_Del	DEL	GTGGTGTTTGC	-	-			CHC902T																					ENST00000396930.3:c.3077_3087del	p.Arg1026GlnfsTer2	p.R1026Qfs*2	ENST00000396930	NM_001099412.1	1026	cGCAAACACCAC/c	0	not done		damaging	
XRCC6		inserm.fr	GRCh37	22	42052974	42052993	+	frameshift_variant	Frame_Shift_Del	DEL	GGCAACTCCAGAGCAGGTGG	-	-			CHC253T									Valid												ENST00000359308.4:c.1360_1379del	p.Ala454GlnfsTer7	p.A454Qfs*7	ENST00000359308		453	atGGCAACTCCAGAGCAGGTGGgc/atgc	0	validated		damaging	
C6orf132		inserm.fr	GRCh37	6	42072558	42072572	+	inframe_deletion	In_Frame_Del	DEL	GGCGCCCCGGGGCCA	-	-			CHC2115T																					ENST00000341865.4:c.3078_3092del	p.Gly1027_Pro1031del	p.G1027_P1031del	ENST00000341865	NM_001164446.1	1026	gcTGGCCCCGGGGCGCCc/gcc	0	validated		damaging	
GPATCH8		inserm.fr	GRCh37	17	42475011	42475025	+	inframe_deletion	In_Frame_Del	DEL	TGCAGTGGCAGCTGC	-	-			CHC434T									Valid												ENST00000591680.1:c.4420_4434del	p.Ala1474_Ala1478del	p.A1474_A1478del	ENST00000591680	NM_001002909.2	1474	GCAGCTGCCACTGCA/-	0	validated		damaging	
YAF2		inserm.fr	GRCh37	12	42631967	42631969	+	inframe_deletion	In_Frame_Del	DEL	TCT	-	-			CHC1209T																					ENST00000442791.3:c.14_16del	p.Lys5del	p.K5del	ENST00000442791	NM_001190979.1	5	aAGAgc/agc	0	validated		damaging	
CCDC152		inserm.fr	GRCh37	5	42799765	42799766	+	frameshift_variant	Frame_Shift_Del	DEL	TT	-	-			CHC917T																					ENST00000361970.5:c.647_648del	p.Leu216ProfsTer16	p.L216Pfs*16	ENST00000361970	NM_001134848.1	216	cTT/c	0	validated		damaging	
ADAM11		inserm.fr	GRCh37	17	42854158	42854163	+	inframe_deletion,splice_region_variant	In_Frame_Del	DEL	GAGCAG	-	-			BCM723T																					ENST00000200557.6:c.1613_1617+1del		EQdel	ENST00000200557	NM_002390.4	538	GAGCAG/-	0	validated		damaging	
FAM198A		inserm.fr	GRCh37	3	43097741	43097745	+	frameshift_variant	Frame_Shift_Del	DEL	GACCC	-	-			CHC1736T																					ENST00000430121.2:c.1591_1595del	p.Asp531SerfsTer50	p.D531Sfs*50	ENST00000430121	NM_001129908.2	531	GACCCa/a	0	validated		damaging	
CCL28		inserm.fr	GRCh37	5	43382156	43382159	+	splice_acceptor_variant,intron_variant	Splice_Site	DEL	TGTT	-	-			BCM695T																					ENST00000361115.4:c.192-5_192-2del		p.X64_splice	ENST00000361115	NM_148672.2			0	validated		damaging	
ZFP36L2		inserm.fr	GRCh37	2	43452735	43452745	+	frameshift_variant	Frame_Shift_Del	DEL	TGGGCGCGGGG	-	-			CHC2141T																					ENST00000282388.3:c.198_208del	p.His66GlnfsTer14	p.H66Qfs*14	ENST00000282388	NM_006887.4	66	caCCCCGCGCCCAgc/cagc	0	validated		damaging	
EPG5		inserm.fr	GRCh37	18	43460173	43460179	+	frameshift_variant	Frame_Shift_Del	DEL	AGCTGCT	-	-			CHC303T									Valid												ENST00000282041.5:c.5528_5534del	p.Glu1843ValfsTer2	p.E1843Vfs*2	ENST00000282041	NM_020964.2	1843	gAGCAGCTt/gt	0	validated		damaging	
MAOB		inserm.fr	GRCh37	X	43655008	43655029	+	frameshift_variant	Frame_Shift_Del	DEL	GTCTCCACAAGGACATTTTCTC	-	-			CHC1185T																					ENST00000378069.4:c.725_746del	p.Arg242ThrfsTer2	p.R242Tfs*2	ENST00000378069	NM_000898.4	242	aGAGAAAATGTCCTTGTGGAGACc/ac	0	validated		damaging	
ETHE1		inserm.fr	GRCh37	19	44030490	44030496	+	frameshift_variant	Frame_Shift_Del	DEL	AGTGGGT	-	-			BCM371T																					ENST00000292147.2:c.232_238del	p.Thr78AlafsTer65	p.T78Afs*65	ENST00000292147	NM_014297.3	78	ACCCACTgc/gc	0	validated		damaging	
ABCG5		inserm.fr	GRCh37	2	44052030	44052032	+	inframe_deletion,splice_region_variant	In_Frame_Del	DEL	TAG	-	-			CHC253T									Valid												ENST00000260645.1:c.900_902del	p.Tyr301del	p.Y301del	ENST00000260645	NM_022436.2	300	ttCTAt/ttt	0	validated		damaging	
POLM		inserm.fr	GRCh37	7	44113382	44113391	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	CTTGGAGCCA	-	-			CHC1749T																					ENST00000242248.5:c.1305_1314del	p.Gly436PhefsTer18	p.G436Ffs*18	ENST00000242248	NM_013284.2	435	acTGGCTCCAAG/ac	0	validated		damaging	
PDE9A		inserm.fr	GRCh37	21	44180938	44180940	+	inframe_deletion	In_Frame_Del	DEL	AAG	-	-			CHC1556T																					ENST00000291539.6:c.1006_1008del	p.Lys336del	p.K336del	ENST00000291539	NM_002606.2	336	AAG/-	0	not done		damaging	
ALX4		inserm.fr	GRCh37	11	44297107	44297126	+	frameshift_variant	Frame_Shift_Del	DEL	GCCCCTTCACCCCAGCCTCC	-	-			CHC2127T																					ENST00000329255.3:c.549_568del	p.Lys183AsnfsTer66	p.K183Nfs*66	ENST00000329255	NM_021926.3	183	aaGGAGGCTGGGGTGAAGGGGCcc/aacc	0	validated		damaging	
SPATS1		inserm.fr	GRCh37	6	44344141	44344155	+	inframe_deletion	In_Frame_Del	DEL	ATACAAGAGGTTGAG	-	-			CHC1534T																					ENST00000288390.2:c.805_819del	p.Ile269_Glu273del	p.I269_E273del	ENST00000288390		269	ATACAAGAGGTTGAG/-	0	validated		damaging	
CDC5L		inserm.fr	GRCh37	6	44358099	44358104	+	inframe_deletion	In_Frame_Del	DEL	AAGCCA	-	-			BCM567T																					ENST00000371477.3:c.140_145del	p.Lys47_Ala48del	p.K47_A48del	ENST00000371477	NM_001253.3	47	aAAGCCAga/aga	0	validated		damaging	
CCDC122		inserm.fr	GRCh37	13	44411489	44411505	+	frameshift_variant	Frame_Shift_Del	DEL	TGTCGTCTATTTGACTG	-	-			CHC303T									Valid												ENST00000444614.3:c.733_749del	p.Gln245ValfsTer28	p.Q245Vfs*28	ENST00000444614	NM_144974.3	245	CAGTCAAATAGACGACAg/g	0	validated		damaging	
ZNF224		inserm.fr	GRCh37	19	44612184	44612185	+	frameshift_variant	Frame_Shift_Del	DEL	TC	-	-			CHC2208T																					ENST00000336976.6:c.1871_1872del	p.Leu624GlnfsTer3	p.L624Qfs*3	ENST00000336976	NM_013398.2	624	cTC/c	0	validated		damaging	
NSF		inserm.fr	GRCh37	17	44788380	44788384	+	frameshift_variant	Frame_Shift_Del	DEL	ATCAA	-	-			CHC205T									Valid												ENST00000398238.4:c.1524_1528del	p.Ile508MetfsTer3	p.I508Mfs*3	ENST00000398238	NM_006178.3	508	ATCAAa/a	0	validated		damaging	
KDM6A		inserm.fr	GRCh37	X	44929085	44929098	+	frameshift_variant	Frame_Shift_Del	DEL	GAAACAAGCAGGCA	-	-			CHC437T																					ENST00000377967.4:c.2185_2198del	p.Glu729HisfsTer6	p.E729Hfs*6	ENST00000377967	NM_021140.2	729	GAAACAAGCAGGCAc/c	0	validated		damaging	
PTCH2		inserm.fr	GRCh37	1	45297863	45297865	+	inframe_deletion	In_Frame_Del	DEL	GCT	-	-			CHC1603T																					ENST00000372192.3:c.414_416del	p.Ala139del	p.A139del	ENST00000372192	NM_003738.4	138	gcAGCc/gcc	0	validated		damaging	
DUOX1		inserm.fr	GRCh37	15	45439655	45439675	+	inframe_deletion	In_Frame_Del	DEL	GCAGGGACCCTGCCCCTGGAC	-	-			CHC1704T																					ENST00000321429.4:c.2347_2367del	p.Ala783_Asp789del	p.A783_D789del	ENST00000321429	NM_017434.3	783	GCAGGGACCCTGCCCCTGGAC/-	0	validated		damaging	
C21orf2		inserm.fr	GRCh37	21	45751827	45751828	+	frameshift_variant	Frame_Shift_Del	DEL	CT	-	-			CHC798T																					ENST00000397956.3:c.443_444delAG	p.Glu148GlyfsTer21	p.E148Gfs*21	ENST00000397956	NM_001271441.1	148	gAG/g	0	validated		damaging	
TESK2		inserm.fr	GRCh37	1	45811097	45811106	+	frameshift_variant	Frame_Shift_Del	DEL	TGGGGGCTTA	-	-			CHC205T									Valid												ENST00000372086.3:c.1122_1131del	p.Lys375ValfsTer3	p.K375Vfs*3	ENST00000372086	NM_007170.2	374	cgTAAGCCCCCA/cg	0	validated		damaging	
IGFBP1		inserm.fr	GRCh37	7	45930153	45930170	+	inframe_deletion	In_Frame_Del	DEL	GGAGCCCTGAAAGCCCAG	-	-			BCM791T																					ENST00000275525.3:c.356_373del	p.Gly119_Pro124del	p.G119_P124del	ENST00000275525	NM_000596.2	119	gGGAGCCCTGAAAGCCCAGag/gag	0	validated		damaging	
FYCO1		inserm.fr	GRCh37	3	46023060	46023061	+	splice_donor_variant	Splice_Site	DEL	AC	-	-			CHC2029T																					ENST00000296137.2:c.162+1_162+2del		p.X54_splice	ENST00000296137	NM_024513.3			0	validated		damaging	
NFE2L1		inserm.fr	GRCh37	17	46133850	46133852	+	inframe_deletion	In_Frame_Del	DEL	AAG	-	-			CHC1750T																					ENST00000362042.3:c.613_615del	p.Lys205del	p.K205del	ENST00000362042	NM_003204.2	205	AAG/-	0	not done		damaging	
ARID2		inserm.fr	GRCh37	12	46240716	46240722	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	CAGTGGT	-	-			CHC1598T									Valid												ENST00000334344.6:c.1576_1580+2del		p.X526_splice	ENST00000334344	NM_152641.2	526		0	validated		damaging	
SIX5		inserm.fr	GRCh37	19	46271556	46271573	+	inframe_deletion	In_Frame_Del	DEL	CTGCGCCAAGCGCGCGGC	-	-			CHC2029T																					ENST00000317578.6:c.530_547del	p.Gly177_Ala182del	p.G177_A182del	ENST00000317578	NM_175875.4	177	gGCCGCGCGCTTGGCGCAGtg/gtg	0	validated		damaging	
ARID2		inserm.fr	GRCh37	12	46298744	46298745	+	frameshift_variant	Frame_Shift_Del	DEL	AT	-	-			CHC451T									Valid												ENST00000334344.6:c.5391_5392del	p.Leu1797PhefsTer6	p.L1797Ffs*6	ENST00000334344	NM_152641.2	1797	ttATca/ttca	0	validated		damaging	
SCAF11		inserm.fr	GRCh37	12	46320635	46320669	+	frameshift_variant	Frame_Shift_Del	DEL	TTACTTTTTGTTCTACATCTTGAGGGGGACCTAGA	-	-			CHC361TA									Valid												ENST00000369367.3:c.2815_2849del	p.Ser939GlufsTer6	p.S939Efs*6	ENST00000369367	NM_004719.2	939	TCTAGGTCCCCCTCAAGATGTAGAACAAAAAGTAAg/g	0	validated		damaging	
ZC3H13		inserm.fr	GRCh37	13	46549775	46549778	+	frameshift_variant	Frame_Shift_Del	DEL	TCTT	-	-			CHC2351T																					ENST00000282007.3:c.2108_2111del	p.Lys703ArgfsTer4	p.K703Rfs*4	ENST00000282007	NM_015070.3	703	aAAGAg/ag	0	not done		damaging	
HOXB1		inserm.fr	GRCh37	17	46607207	46607221	+	inframe_deletion	In_Frame_Del	DEL	GGCGAGCCCAGGCCT	-	-			CHC2358T																					ENST00000239174.6:c.594_608del	p.Gly199_Pro203del	p.G199_P203del	ENST00000239174	NM_002144.3	198	ccAGGCCTGGGCTCGCCc/ccc	0	validated		damaging	
PKDREJ		inserm.fr	GRCh37	22	46654136	46654168	+	inframe_deletion	In_Frame_Del	DEL	CTGATTTCATCTTCTGTAAGGGGTTGGTACATC	-	-			CHC1594T																					ENST00000253255.5:c.5052_5084del	p.Met1685_Arg1695del	p.M1685_R1695del	ENST00000253255	NM_006071.1	1684	agGATGTACCAACCCCTTACAGAAGATGAAATCAGa/aga	0	validated		damaging	
CKAP5		inserm.fr	GRCh37	11	46766026	46766034	+	inframe_deletion	In_Frame_Del	DEL	AGTAGACAG	-	-			CHC2029T																					ENST00000529230.1:c.5798_5806del	p.Ser1933_Tyr1935del	p.S1933_Y1935del	ENST00000529230		1933	tCTGTCTACTtg/ttg	0	validated		damaging	
PHF16		inserm.fr	GRCh37	X	46913877	46913880	+	frameshift_variant	Frame_Shift_Del	DEL	CTAT	-	-			CHC1602T																					ENST00000218343.4:c.1290_1293del	p.Tyr431ThrfsTer5	p.Y431Tfs*5	ENST00000218343	NM_014735.3	430	atCTAT/at	0	validated		damaging	
SETD2		inserm.fr	GRCh37	3	47098587	47098593	+	frameshift_variant	Frame_Shift_Del	DEL	CACATGT	-	-			CHC1602T																					ENST00000409792.3:c.6681_6687del	p.His2228GlnfsTer18	p.H2228Qfs*18	ENST00000409792	NM_014159.6	2227	ccACATGTG/cc	0	validated		damaging	
TMEM160		inserm.fr	GRCh37	19	47549382	47549400	+	frameshift_variant	Frame_Shift_Del	DEL	CCAGCACGGCGCCCGCGCC	-	-			CHC1624T																					ENST00000253047.6:c.412_430del	p.Gly138ProfsTer65	p.G138Pfs*65	ENST00000253047	NM_017854.1	138	GGCGCGGGCGCCGTGCTGGcc/cc	0	validated		damaging	
FTCD		inserm.fr	GRCh37	21	47558540	47558572	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TCCTGTAGGGCCGCCGTGCGCCTGAAAGGAGCA	-	-			CHC801T																					ENST00000291670.5:c.1305-12_1325del		p.X435_splice	ENST00000291670	NM_006657.2			0	validated		damaging	
PTPRJ		inserm.fr	GRCh37	11	48166567	48166568	+	frameshift_variant	Frame_Shift_Del	DEL	CT	-	-			CHC303T									Valid												ENST00000418331.2:c.2802_2803del	p.Phe935HisfsTer14	p.F935Hfs*14	ENST00000418331	NM_002843.3	934	ggCTtc/ggtc	0	validated		damaging	
ABCC11		inserm.fr	GRCh37	16	48209168	48209177	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	CCTGATGGTT	-	-			BCB111T									Valid												ENST00000394747.1:c.3690_3698+1del		p.X1230_splice	ENST00000394747	NM_033151.3	1230		0	validated		damaging	
KIAA0146		inserm.fr	GRCh37	8	48352952	48352973	+	frameshift_variant	Frame_Shift_Del	DEL	CATGTGTGAGCAGTTATTGGGG	-	-			BCM397T																					ENST00000297423.4:c.945_966del	p.Met316HisfsTer18	p.M316Hfs*18	ENST00000297423	NM_001080394.2	315	gcCATGTGTGAGCAGTTATTGGGG/gc	0	validated		damaging	
SLC24A5		inserm.fr	GRCh37	15	48434342	48434346	+	frameshift_variant	Frame_Shift_Del	DEL	GTAAA	-	-			CHC1915T									Valid												ENST00000341459.3:c.1297_1301del	p.Val433GlnfsTer52	p.V433Qfs*52	ENST00000341459	NM_205850.2	433	GTAAAc/c	0	validated		damaging	
SPATA20		inserm.fr	GRCh37	17	48625938	48625939	+	frameshift_variant	Frame_Shift_Del	DEL	TC	-	-			BCB307T									Valid												ENST00000006658.6:c.320_321del	p.Phe107Ter	p.F107*	ENST00000006658	NM_022827.3	107	tTC/t	0	validated		damaging	
CELSR3		inserm.fr	GRCh37	3	48691208	48691212	+	frameshift_variant	Frame_Shift_Del	DEL	GGGAT	-	-			CHC304T									Valid												ENST00000164024.4:c.5288_5292del	p.His1763ProfsTer16	p.H1763Pfs*16	ENST00000164024	NM_001407.2	1763	cATCCC/c	0	validated		damaging	
RB1		inserm.fr	GRCh37	13	48921986	48921987	+	frameshift_variant	Frame_Shift_Del	DEL	CA	-	-			BCB157T																					ENST00000267163.4:c.526_527del	p.Gln176ThrfsTer8	p.Q176Tfs*8	ENST00000267163	NM_000321.2	176	CAa/a	0	validated		damaging	
TOB1		inserm.fr	GRCh37	17	48941255	48941316	+	frameshift_variant	Frame_Shift_Del	DEL	CTTCATATTTCTTCTTAAGAAGTCTTTCAAGTTCTTCACCAAAAATGTTGACACGTCTCCTG	-	-			CHC197T									Valid												ENST00000499247.2:c.63_124del	p.Arg22AlafsTer5	p.R22Afs*5	ENST00000499247	NM_005749.3	21	ccCAGGAGACGTGTCAACATTTTTGGTGAAGAACTTGAAAGACTTCTTAAGAAGAAATATGAAGgg/ccgg	0	validated		damaging	
AGBL4		inserm.fr	GRCh37	1	48999866	48999873	+	frameshift_variant	Frame_Shift_Del	DEL	TTTGTGGT	-	-			BCM489T																					ENST00000371839.1:c.1484_1491del	p.Asn495ArgfsTer44	p.N495Rfs*44	ENST00000371839	NM_032785.3	495	aACCACAAA/a	0	validated		damaging	
RB1		inserm.fr	GRCh37	13	49027150	49027167	+	inframe_deletion	In_Frame_Del	DEL	ATTAAACAATCAAAGGAC	-	-			CHC1210T																					ENST00000267163.4:c.1717_1734del	p.Ile573_Asp578del	p.I573_D578del	ENST00000267163	NM_000321.2	573	ATTAAACAATCAAAGGAC/-	0	validated		damaging	
RB1		inserm.fr	GRCh37	13	49047522	49047527	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	TCGGGG	-	-			CHC794T									Valid												ENST00000267163.4:c.2517_2520+2del		p.X839_splice	ENST00000267163	NM_000321.2	839		0	validated		damaging	
QRICH1		inserm.fr	GRCh37	3	49084534	49084541	+	frameshift_variant	Frame_Shift_Del	DEL	TTCTCTAG	-	-			CHC798T									Valid												ENST00000395443.2:c.1477_1484del	p.Leu493GlyfsTer46	p.L493Gfs*46	ENST00000395443	NM_198880.1	493	CTAGAGAAg/g	0	validated		damaging	
CACNA1F		inserm.fr	GRCh37	X	49088224	49088233	+	frameshift_variant	Frame_Shift_Del	DEL	CTGGCCACTG	-	-			CHC1741T																					ENST00000376265.2:c.182_191del	p.Ala61ValfsTer37	p.A61Vfs*37	ENST00000376265	NM_005183.2	61	gCAGTGGCCAGt/gt	0	validated		damaging	
SHC4		inserm.fr	GRCh37	15	49126988	49126990	+	inframe_deletion	In_Frame_Del	DEL	AGA	-	-			CHC1747T																					ENST00000332408.4:c.1713_1715del	p.Leu573del	p.L573del	ENST00000332408	NM_203349.3	571	ctTCTc/ctc	0	validated		damaging	
SECISBP2L		inserm.fr	GRCh37	15	49285011	49285031	+	inframe_deletion	In_Frame_Del	DEL	AAATGGAAGTTTACTGGGTTT	-	-			CHC892T																					ENST00000559471.1:c.2716_2736del	p.Lys906_Phe912del	p.K906_F912del	ENST00000559471	NM_001193489.1	906	AAACCCAGTAAACTTCCATTT/-	0	validated		damaging	
MLL2		inserm.fr	GRCh37	12	49433625	49433626	+	frameshift_variant	Frame_Shift_Del	DEL	TC	-	-			BCM683T									Valid												ENST00000301067.7:c.7927_7928del	p.Glu2643LysfsTer11	p.E2643Kfs*11	ENST00000301067	NM_003482.3	2643	GAa/a	0	validated		damaging	
MST1		inserm.fr	GRCh37	3	49725275	49725279	+	frameshift_variant	Frame_Shift_Del	DEL	GTGCT	-	-			CHC1704T																					ENST00000449682.2:c.146_150delAGCAC	p.Gln49ProfsTer18	p.Q49Pfs*18	ENST00000449682	NM_020998.3	49	cAGCAC/c	0	validated		damaging	
DNAJC22		inserm.fr	GRCh37	12	49742950	49742953	+	frameshift_variant	Frame_Shift_Del	DEL	CTTT	-	-			CHC1065T									Valid												ENST00000549441.2:c.298_301del	p.Ser100ProfsTer16	p.S100Pfs*16	ENST00000549441		99	CTTTct/ct	0	validated		damaging	
PARP8		inserm.fr	GRCh37	5	50091163	50091167	+	frameshift_variant	Frame_Shift_Del	DEL	AACCT	-	-			CHC736T									Valid												ENST00000281631.5:c.1343_1347del	p.Pro448ArgfsTer47	p.P448Rfs*47	ENST00000281631	NM_024615.3	447	gAACCT/g	0	validated		damaging	
PAPD5		inserm.fr	GRCh37	16	50187896	50187909	+	frameshift_variant	Frame_Shift_Del	DEL	GCCCGCCGGGCGGG	-	-			CHC1597T																					ENST00000436909.3:c.319_332del	p.Ala107LeufsTer90	p.A107Lfs*90	ENST00000436909	NM_001040285.2	107	GCCCGCCGGGCGGGc/c	0	validated		damaging	
AP2A1		inserm.fr	GRCh37	19	50285232	50285249	+	inframe_deletion	In_Frame_Del	DEL	GAAAAAATATGTGTGTAA	-	-			CHC2111T																					ENST00000359032.5:c.165_182del	p.Lys56_Lys61del	p.K56_K61del	ENST00000359032	NM_014203.2	55	aaGAAAAAATATGTGTGTAAa/aaa	0	validated		damaging	
ATP9A		inserm.fr	GRCh37	20	50329588	50329592	+	frameshift_variant	Frame_Shift_Del	DEL	ATGAC	-	-			CHC798T																					ENST00000338821.5:c.349_353del	p.Val117ProfsTer2	p.V117Pfs*2	ENST00000338821	NM_006045.1	117	GTCATc/c	0	validated		damaging	
SHROOM4		inserm.fr	GRCh37	X	50377963	50377965	+	inframe_deletion	In_Frame_Del	DEL	TGG	-	-			CHC1596T																					ENST00000376020.2:c.1108_1110del	p.Pro370del	p.P370del	ENST00000376020	NM_020717.3	370	CCA/-	0	validated		damaging	
PANX2		inserm.fr	GRCh37	22	50615467	50615479	+	frameshift_variant	Frame_Shift_Del	DEL	GCGTGGACGCCAG	-	-			CHC1629T																					ENST00000395842.2:c.326_338del	p.Gly109AlafsTer121	p.G109Afs*121	ENST00000395842	NM_052839.3	109	gGCGTGGACGCCAGc/gc	0	validated		damaging	
SELO		inserm.fr	GRCh37	22	50654201	50654213	+	frameshift_variant	Frame_Shift_Del	DEL	GTCGCCAGGCCTG	-	-			CHC1185T																					ENST00000380903.2:c.1408_1420del	p.Ser470ArgfsTer7	p.S470Rfs*7	ENST00000380903	NM_031454.1	469	gaGTCGCCAGGCCTG/ga	0	validated		damaging	
TYMP		inserm.fr	GRCh37	22	50968104	50968118	+	inframe_deletion	In_Frame_Del	DEL	GGGGCCCCGGTTCCC	-	-			BCM265T									Valid												ENST00000395681.1:c.21_35del	p.Gly8_Pro12del	p.G8_P12del	ENST00000395681		7	ccGGGAACCGGGGCCCCa/cca	0	validated		damaging	
KLHDC7B		inserm.fr	GRCh37	22	50986793	50986795	+	inframe_deletion	In_Frame_Del	DEL	AAG	-	-			CHC2098T																					ENST00000395676.2:c.198_200del	p.Arg66del	p.R66del	ENST00000395676	NM_138433.3	66	agAAGc/agc	0	validated		damaging	
RBM15B		inserm.fr	GRCh37	3	51430080	51430081	+	frameshift_variant	Frame_Shift_Del	DEL	CC	-	-			CHC304T									Valid												ENST00000323686.4:c.1250_1251del	p.Thr417AsnfsTer11	p.T417Nfs*11	ENST00000323686	NM_013286.4	417	aCC/a	0	validated		damaging	
TTC39A		inserm.fr	GRCh37	1	51787808	51787859	+	intron_variant	Intron	DEL	GAGTCTTTGTGGCCCTTCTGGCCCATTGGGCTCTGCTGCCCCCCCAGGGGGT	-	-			CHC1209T																					ENST00000413473.2:c.54-362_54-311del		*18*	ENST00000413473	NM_001144832.1			0	validated		damaging	
POLI		inserm.fr	GRCh37	18	51820399	51820407	+	inframe_deletion	In_Frame_Del	DEL	CTCTGTATC	-	-			CHC218T																					ENST00000579534.1:c.1785_1793del	p.Ser596_Ser598del	p.S596_S598del	ENST00000579534	NM_007195.2	595	tcCTCTGTATCt/tct	0	validated		damaging	
INTS6		inserm.fr	GRCh37	13	51957494	51957507	+	frameshift_variant	Frame_Shift_Del	DEL	TAAGGCATCACAAA	-	-			BCM543T																					ENST00000311234.4:c.1138_1151del	p.Phe380GlnfsTer11	p.F380Qfs*11	ENST00000311234	NM_012141.2	380	TTTGTGATGCCTTAc/c	0	validated		damaging	
BAP1		inserm.fr	GRCh37	3	52442618	52442627	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CAGGGCTGGG	-	-			CHC1182T																					ENST00000460680.1:c.123-5_127del		p.X41_splice	ENST00000460680	NM_004656.3			0	not done		damaging	
PBRM1		inserm.fr	GRCh37	3	52620480	52620501	+	frameshift_variant	Frame_Shift_Del	DEL	TGAGTTGTCTGTATTCTTCTCA	-	-			CHC304T									Valid												ENST00000394830.3:c.3252_3273del	p.Asp1084GlufsTer43	p.D1084Efs*43	ENST00000394830	NM_018313.4	1084	gaTGAGAAGAATACAGACAACTCA/ga	0	validated		damaging	
PBRM1		inserm.fr	GRCh37	3	52702661	52702662	+	splice_acceptor_variant,coding_sequence_variant	Splice_Site	DEL	TC	-	-			CHC121T									Valid												ENST00000394830.3:c.237-1_237del		p.X79_splice	ENST00000394830	NM_018313.4			0	validated		damaging	
GSTA5		inserm.fr	GRCh37	6	52705568	52705588	+	inframe_deletion	In_Frame_Del	DEL	CTGCCCCGTGCATTGGAGTAG	-	-			CHC1747T																					ENST00000370989.2:c.24_44del	p.Tyr9_Ser15del	p.Y9_S15del	ENST00000370989		8	caCTACTCCAATGCACGGGGCAGt/cat	0	validated		damaging	
KRT6C		inserm.fr	GRCh37	12	52863533	52863547	+	inframe_deletion	In_Frame_Del	DEL	GGTACTCCTTCAGCA	-	-			CHC1774T																					ENST00000252250.6:c.1331_1345del	p.Leu444_Tyr448del	p.L444_Y448del	ENST00000252250	NM_173086.4	444	cTGCTGAAGGAGTACCag/cag	0	validated		damaging	
GNPNAT1		inserm.fr	GRCh37	14	53248574	53248608	+	frameshift_variant	Frame_Shift_Del	DEL	ATCTTCTACAACTGTAACATAATAATCCCCAGATT	-	-			CHC1041T									Valid												ENST00000216410.3:c.239_273del	p.Lys80SerfsTer17	p.K80Sfs*17	ENST00000216410	NM_198066.3	80	aAATCTGGGGATTATTATGTTACAGTTGTAGAAGAT/a	0	validated		damaging	
TENC1		inserm.fr	GRCh37	12	53453654	53453661	+	frameshift_variant	Frame_Shift_Del	DEL	GCATCACC	-	-			CHC306T									Valid												ENST00000314276.3:c.2259_2266del	p.His754CysfsTer5	p.H754Cfs*5	ENST00000314276	NM_015319.2	753	ggGCATCACCat/ggat	0	validated		damaging	
SNX18		inserm.fr	GRCh37	5	53814733	53814748	+	frameshift_variant	Frame_Shift_Del	DEL	CTGGCTGTACGCGCGC	-	-			CHC794T									Valid												ENST00000326277.3:c.956_971del	p.Leu319ArgfsTer33	p.L319Rfs*33	ENST00000326277	NM_052870.2	317	gaCTGGCTGTACGCGCGC/ga	0	validated		damaging	
CACNA1D		inserm.fr	GRCh37	3	53844088	53844099	+	inframe_deletion	In_Frame_Del	DEL	AGCAACCCCTCC	-	-			CHC1079T																					ENST00000288139.4:c.6015_6026del	p.Ala2006_Pro2009del	p.A2006_P2009del	ENST00000288139	NM_000720.3	2005	ccAGCAACCCCTCCc/ccc	0	validated		damaging	
SCFD2		inserm.fr	GRCh37	4	54179882	54179891	+	frameshift_variant	Frame_Shift_Del	DEL	GTGCTTAGTG	-	-			CHC2098T																					ENST00000401642.3:c.1047_1056del	p.Asn349LysfsTer5	p.N349Kfs*5	ENST00000401642	NM_152540.3	349	aaCACTAAGCAC/aa	0	validated		damaging	
YIPF1		inserm.fr	GRCh37	1	54348826	54348828	+	inframe_deletion	In_Frame_Del	DEL	TCT	-	-			BCM723T																					ENST00000072644.1:c.153_155del	p.Glu51del	p.E51del	ENST00000072644	NM_018982.4	51	gaAGAt/gat	0	validated		damaging	
AURKA		inserm.fr	GRCh37	20	54945331	54945333	+	inframe_deletion	In_Frame_Del	DEL	CTT	-	-			CHC1154T																					ENST00000312783.6:c.1093_1095del	p.Lys365del	p.K365del	ENST00000312783	NM_198436.1	365	AAG/-	0	validated		damaging	
LENG9		inserm.fr	GRCh37	19	54974755	54974779	+	start_lost,5_prime_UTR_variant	Translation_Start_Site	DEL	GCACGGAGGGCGGCTCCCCATGGAT	-	-			CHC1060T																					ENST00000333834.4:c.-4_21del		*2*	ENST00000333834	NM_198988.1			0	validated		damaging	
PDGFRA		inserm.fr	GRCh37	4	55156639	55156647	+	inframe_deletion	In_Frame_Del	DEL	GCTGACAGT	-	-			CHC205T									Valid												ENST00000257290.5:c.3041_3049del	p.Ala1014_Ser1016del	p.A1014_S1016del	ENST00000257290	NM_006206.4	1014	GCTGACAGT/-	0	validated		damaging	
IL6ST		inserm.fr	GRCh37	5	55260052	55260054	+	inframe_deletion	In_Frame_Del	DEL	TGT	-	-			CHC059T									Valid												ENST00000381298.2:c.578_580del	p.Asn193del	p.N193del	ENST00000381298	NM_175767.2	193	aACAtt/att	0	validated		damaging	
IL6ST		inserm.fr	GRCh37	5	55260061	55260072	+	inframe_deletion	In_Frame_Del	DEL	AATACACAGTAG	-	-			CHC1915T									Valid												ENST00000381298.2:c.560_571del	p.Ser187_Tyr190del	p.S187_Y190del	ENST00000381298	NM_175767.2	187	tCTACTGTGTATTtt/ttt	0	validated		damaging	
IL6ST		inserm.fr	GRCh37	5	55260061	55260072	+	inframe_deletion	In_Frame_Del	DEL	AATACACAGTAG	-	-			CHC510T									Valid												ENST00000381298.2:c.560_571del	p.Ser187_Tyr190del	p.S187_Y190del	ENST00000381298	NM_175767.2	187	tCTACTGTGTATTtt/ttt	0	validated		damaging	
IL6ST		inserm.fr	GRCh37	5	55260061	55260075	+	inframe_deletion	In_Frame_Del	DEL	AATACACAGTAGAAT	-	-			CHC469T									Valid												ENST00000381298.2:c.557_571delATTCTACTGTGTATT	p.Tyr186_Tyr190del	p.Y186_Y190del	ENST00000381298	NM_175767.2	186	tATTCTACTGTGTATTtt/ttt	0	validated		damaging	
RP1		inserm.fr	GRCh37	8	55538312	55538328	+	frameshift_variant	Frame_Shift_Del	DEL	AAAAATATTTCTGAGGC	-	-			BCB325T									Valid												ENST00000220676.1:c.1870_1886del	p.Lys624SerfsTer14	p.K624Sfs*14	ENST00000220676	NM_006269.1	624	AAAAATATTTCTGAGGCt/t	0	validated		damaging	
PCK1		inserm.fr	GRCh37	20	56137204	56137205	+	frameshift_variant	Frame_Shift_Del	DEL	AC	-	-			CHC205T									Valid												ENST00000319441.4:c.305_306del	p.Thr102SerfsTer21	p.T102Sfs*21	ENST00000319441	NM_002591.3	101	gAC/g	0	validated		damaging	
ERBB3		inserm.fr	GRCh37	12	56478912	56478923	+	inframe_deletion	In_Frame_Del	DEL	ATAACACCAACT	-	-			CHC2216T																					ENST00000267101.3:c.368_379del	p.Tyr123_Asn126del	p.Y123_N126del	ENST00000267101	NM_001982.3	123	tATAACACCAACTcc/tcc	0	validated		damaging	
DST		inserm.fr	GRCh37	6	56505347	56505384	+	frameshift_variant	Frame_Shift_Del	DEL	TACACAGAAGAACATTCGTTCCTTAAGGCCATAATTTC	-	-			CHC1743T																					ENST00000244364.6:c.436_473del	p.Glu146GlnfsTer33	p.E146Qfs*33	ENST00000244364	NM_015548.4	146	GAAATTATGGCCTTAAGGAACGAATGTTCTTCTGTGTAc/c	0	not done		damaging	
DST		inserm.fr	GRCh37	6	56505347	56505384	+	frameshift_variant	Frame_Shift_Del	DEL	TACACAGAAGAACATTCGTTCCTTAAGGCCATAATTTC	-	-			CHC1743T																					ENST00000244364.6:c.436_473del	p.Glu146GlnfsTer33	p.E146Qfs*33	ENST00000244364	NM_015548.4	146	GAAATTATGGCCTTAAGGAACGAATGTTCTTCTGTGTAc/c	0	not done		damaging	
RNF41		inserm.fr	GRCh37	12	56601441	56601443	+	inframe_deletion	In_Frame_Del	DEL	GTT	-	-			BCM617T									Valid												ENST00000345093.4:c.589_591del	p.Asn197del	p.N197del	ENST00000345093	NM_005785.3	197	AAC/-	0	validated		damaging	
SEC11C		inserm.fr	GRCh37	18	56816776	56816783	+	frameshift_variant	Frame_Shift_Del	DEL	TCGTGTCT	-	-			CHC320T									Valid												ENST00000587834.1:c.121_128del	p.Val41CysfsTer15	p.V41Cfs*15	ENST00000587834	NM_033280.2	40	aTCGTGTCT/a	0	validated		damaging	
ZBTB39		inserm.fr	GRCh37	12	57397116	57397122	+	frameshift_variant	Frame_Shift_Del	DEL	ACAGCCA	-	-			CHC307T									Valid												ENST00000300101.2:c.1580_1586del	p.Met527SerfsTer124	p.M527Sfs*124	ENST00000300101	NM_014830.2	527	aTGGCTGTg/ag	0	validated		damaging	
TMEM194A		inserm.fr	GRCh37	12	57464580	57464586	+	frameshift_variant	Frame_Shift_Del	DEL	AAAAAAA	-	-			CHC1028T																					ENST00000300128.4:c.343_349del	p.Phe115ProfsTer4	p.F115Pfs*4	ENST00000300128	NM_001130963.1	115	TTTTTTTcc/cc	0	validated		damaging	
CIAPIN1		inserm.fr	GRCh37	16	57466430	57466452	+	frameshift_variant	Frame_Shift_Del	DEL	AGGGTCCACAGCTTGGCAGCAGC	-	-			CHC2099T																					ENST00000394391.4:c.577_599del	p.Ala193LeufsTer14	p.A193Lfs*14	ENST00000394391	NM_020313.2	193	GCTGCTGCCAAGCTGTGGACCCTc/c	0	validated		damaging	
TCF12		inserm.fr	GRCh37	15	57555399	57555411	+	frameshift_variant	Frame_Shift_Del	DEL	TCATCAGATGACA	-	-			CHC961T									Valid												ENST00000438423.2:c.1673_1685del	p.Ser558Ter	p.S558*	ENST00000438423	NM_207037.1	558	TCATCAGATGACAtg/tg	0	validated		damaging	
ZNF460		inserm.fr	GRCh37	19	57803338	57803366	+	frameshift_variant	Frame_Shift_Del	DEL	GAATGCGTGGAGTGCGGGAAGGCCTTCAA	-	-			CHC1597T																					ENST00000360338.3:c.1429_1457del	p.Glu477ProfsTer29	p.E477Pfs*29	ENST00000360338	NM_006635.3	477	GAATGCGTGGAGTGCGGGAAGGCCTTCAAc/c	0	validated		damaging	
KIFC3		inserm.fr	GRCh37	16	57849548	57849563	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	ACGTAAGTGAAGTGGG	-	-			CHC1592T																					ENST00000564282.1:c.41_42+14del		p.X14_splice	ENST00000564282	NM_001278081.1	14		0	not done		damaging	
MBD6		inserm.fr	GRCh37	12	57920777	57920783	+	frameshift_variant	Frame_Shift_Del	DEL	CCTCCCA	-	-			CHC2321T																					ENST00000355673.3:c.1849_1855del	p.Pro617AlafsTer56	p.P617Afs*56	ENST00000355673	NM_052897.3	617	CCTCCCAgc/gc	0	validated		damaging	
TOMM20L		inserm.fr	GRCh37	14	58862780	58862791	+	inframe_deletion	In_Frame_Del	DEL	GGACCCCGCGTT	-	-			CHC1598T																					ENST00000360945.2:c.105_116del	p.Asp36_Phe39del	p.D36_F39del	ENST00000360945	NM_207377.2	35	ggGGACCCCGCGTTc/ggc	0	validated		damaging	
A1BG		inserm.fr	GRCh37	19	58864470	58864480	+	frameshift_variant	Frame_Shift_Del	DEL	GTCTCCAGGTG	-	-			CHC796T																					ENST00000263100.3:c.154_164del	p.His52SerfsTer18	p.H52Sfs*18	ENST00000263100	NM_130786.3	52	CACCTGGAGACt/t	0	validated		damaging	
SLC27A5		inserm.fr	GRCh37	19	59023108	59023156	+	frameshift_variant	Frame_Shift_Del	DEL	GCCAGGGCCGCAGCTGCCAGGCTCAGCCCATGGGGCACCCAGGGGCCGA	-	-			CHC051T																					ENST00000263093.2:c.167_215del	p.Leu56HisfsTer2	p.L56Hfs*2	ENST00000263093	NM_012254.2	56	cTCGGCCCCTGGGTGCCCCATGGGCTGAGCCTGGCAGCTGCGGCCCTGGCa/ca	0	validated		damaging	
LRIG3		inserm.fr	GRCh37	12	59266601	59266604	+	splice_region_variant,intron_variant	Splice_Region	DEL	GAAA	-	-			CHC2115T																					ENST00000320743.3:c.3116-6_3116-3del		p.X1039_splice	ENST00000320743	NM_153377.4			0	validated		damaging	
LRIG3		inserm.fr	GRCh37	12	59313988	59313989	+	frameshift_variant	Frame_Shift_Del	DEL	GC	-	-			BCB151T																					ENST00000320743.3:c.28_29del	p.Ala10ArgfsTer53	p.A10Rfs*53	ENST00000320743	NM_153377.4	10	GCc/c	0	validated		damaging	
STX3		inserm.fr	GRCh37	11	59554601	59554619	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CAGAGCCAAGTGAGTGTTT	-	-			CHC303T									Valid												ENST00000337979.4:c.206_214+10del		p.X69_splice	ENST00000337979	NM_001178040.1	69		0	validated		damaging	
JKAMP		inserm.fr	GRCh37	14	59965455	59965461	+	frameshift_variant	Frame_Shift_Del	DEL	GTATTTA	-	-			CHC304T									Valid												ENST00000261247.9:c.469_475del	p.Val157SerfsTer9	p.V157Sfs*9	ENST00000261247	NM_001098625.1	157	GTATTTAtc/tc	0	validated		damaging	
TMEM132A		inserm.fr	GRCh37	11	60696402	60696426	+	frameshift_variant	Frame_Shift_Del	DEL	ACAACTTCACAGCCAGCCTCCTGAC	-	-			CHC1028T																					ENST00000005286.4:c.836_860del	p.His279ProfsTer6	p.H279Pfs*6	ENST00000005286	NM_178031.2	279	cACAACTTCACAGCCAGCCTCCTGACc/cc	0	validated		damaging	
NARG2		inserm.fr	GRCh37	15	60715885	60715894	+	frameshift_variant	Frame_Shift_Del	DEL	GCAGGCAAGC	-	-			CHC432T																					ENST00000261520.4:c.2888_2897del	p.Cys963PhefsTer16	p.C963Ffs*16	ENST00000261520	NM_024611.5	963	tGCTTGCCTGCt/tt	0	validated		damaging	
NARG2		inserm.fr	GRCh37	15	60742003	60742004	+	frameshift_variant	Frame_Shift_Del	DEL	CT	-	-			CHC469T									Valid												ENST00000261520.4:c.1162_1163del	p.Leu389Ter	p.L389*	ENST00000261520	NM_024611.5	388	AGt/t	0	validated		damaging	
PUS10		inserm.fr	GRCh37	2	61198695	61198698	+	splice_region_variant,intron_variant	Splice_Region	DEL	GTAG	-	-			CHC2208T																					ENST00000316752.6:c.469-6_469-3del		p.X157_splice	ENST00000316752	NM_144709.2			0	validated		damaging	
YTHDF1		inserm.fr	GRCh37	20	61833916	61833938	+	frameshift_variant	Frame_Shift_Del	DEL	CCGTAGTCCACGGGGGACTTCAT	-	-			CHC1736T																					ENST00000370339.3:c.1354_1376del	p.Met452HisfsTer16	p.M452Hfs*16	ENST00000370339	NM_017798.3	452	ATGAAGTCCCCCGTGGACTACGGc/c	0	validated		damaging	
ANK3		inserm.fr	GRCh37	10	61834585	61834617	+	inframe_deletion	In_Frame_Del	DEL	TACTTGCACTCTCTCTGGCAGAGATGGAGACTG	-	-			CHC1531T																					ENST00000280772.2:c.6022_6054del	p.Gln2008_Val2018del	p.Q2008_V2018del	ENST00000280772	NM_020987.3	2008	CAGTCTCCATCTCTGCCAGAGAGAGTGCAAGTA/-	0	validated		damaging	
PCDH20		inserm.fr	GRCh37	13	61987919	61988021	+	frameshift_variant	Frame_Shift_Del	DEL	GCTGCGACTGCGGGTCCGGCCTCCCTGCAGACCTGGGCAGCAGCCGCAGGTCCTCGGCCAGGCTGCCGATGAGCACCCCCGCGGGTAGTCCCTCGTTTAGGCT	-	-			CHC1616T																					ENST00000409186.1:c.211_313del	p.Ser71CysfsTer22	p.S71Cfs*22	ENST00000409186		71	AGCCTAAACGAGGGACTACCCGCGGGGGTGCTCATCGGCAGCCTGGCCGAGGACCTGCGGCTGCTGCCCAGGTCTGCAGGGAGGCCGGACCCGCAGTCGCAGCtg/tg	0	validated		damaging	
SCN4A		inserm.fr	GRCh37	17	62018352	62018353	+	frameshift_variant	Frame_Shift_Del	DEL	CA	-	-			CHC892T																					ENST00000435607.1:c.5289_5290del	p.Asp1763GlufsTer4	p.D1763Efs*4	ENST00000435607	NM_000334.4	1763	gaTGac/gaac	0	validated		damaging	
AHNAK		inserm.fr	GRCh37	11	62287281	62287282	+	frameshift_variant	Frame_Shift_Del	DEL	AC	-	-			CHC2110Tbis																					ENST00000378024.4:c.14607_14608del	p.Ser4870CysfsTer3	p.S4870Cfs*3	ENST00000378024	NM_001620.2	4869	gtGTct/gtct	0	validated		damaging	
COMMD1		inserm.fr	GRCh37	2	62362984	62363004	+	inframe_deletion	In_Frame_Del	DEL	TTGGAATTTGATGAGGTCAAA	-	-			CHC302T									Valid												ENST00000311832.5:c.481_501del	p.Leu161_Lys167del	p.L161_K167del	ENST00000311832	NM_152516.2	161	TTGGAATTTGATGAGGTCAAA/-	0	validated		damaging	
MYT1		inserm.fr	GRCh37	20	62839419	62839421	+	inframe_deletion	In_Frame_Del	DEL	GGA	-	-			CHC1191T																					ENST00000328439.1:c.870_872del	p.Glu306del	p.E306del	ENST00000328439	NM_004535.2	290	gaGGAa/gaa	0	not done		damaging	
DOCK7		inserm.fr	GRCh37	1	62979451	62979452	+	frameshift_variant	Frame_Shift_Del	DEL	GA	-	-			BCM375T									Valid												ENST00000340370.5:c.3961_3962del	p.Val1322LeufsTer18	p.V1322Lfs*18	ENST00000340370	NM_033407.3	1321	TCa/a	0	validated		damaging	
EHBP1		inserm.fr	GRCh37	2	63176286	63176314	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	AAAATAGTCCAGGTAAGTGAGTTAGAATG	-	-			CHC303T									Valid												ENST00000263991.5:c.2410_2421+17del		p.X804_splice	ENST00000263991	NM_015252.3	804		0	validated		damaging	
EHBP1		inserm.fr	GRCh37	2	63215146	63215149	+	frameshift_variant	Frame_Shift_Del	DEL	AACT	-	-			CHC1148T																					ENST00000263991.5:c.2794_2797del	p.Asn932Ter	p.N932*	ENST00000263991	NM_015252.3	932	AACTta/ta	0	validated		damaging	
RCOR2		inserm.fr	GRCh37	11	63679989	63679999	+	frameshift_variant	Frame_Shift_Del	DEL	TGCCATACCTA	-	-			CHC433T									Valid												ENST00000301459.4:c.1035_1045del	p.Tyr347LeufsTer39	p.Y347Lfs*39	ENST00000301459	NM_173587.3	345	cgTAGGTATGGCAaa/cgaa	0	validated		damaging	
GGH		inserm.fr	GRCh37	8	63942752	63942753	+	frameshift_variant	Frame_Shift_Del	DEL	AT	-	-			CHC433T									Valid												ENST00000260118.6:c.248_249del	p.Tyr83Ter	p.Y83*	ENST00000260118	NM_003878.2	83	tAT/t	0	validated		damaging	
APOH		inserm.fr	GRCh37	17	64210602	64210612	+	frameshift_variant	Frame_Shift_Del	DEL	ATCTATACACT	-	-			CHC2127T																					ENST00000205948.6:c.941_951del	p.Gln314ArgfsTer21	p.Q314Rfs*21	ENST00000205948	NM_000042.2	314	cAGTGTATAGAT/c	0	validated		damaging	
GNS		inserm.fr	GRCh37	12	65130840	65130847	+	frameshift_variant	Frame_Shift_Del	DEL	TATCAAAC	-	-			CHC197T									Valid												ENST00000258145.3:c.1035_1042del	p.Glu345AspfsTer26	p.E345Dfs*26	ENST00000258145	NM_002076.3	345	gaGTTTGATAtc/gatc	0	validated		damaging	
HELZ		inserm.fr	GRCh37	17	65141916	65141918	+	inframe_deletion	In_Frame_Del	DEL	TGT	-	-			CHC433T									Valid												ENST00000358691.5:c.2710_2712del	p.Thr904del	p.T904del	ENST00000358691	NM_014877.3	904	ACA/-	0	validated		damaging	
KCNK7		inserm.fr	GRCh37	11	65361108	65361134	+	inframe_deletion	In_Frame_Del	DEL	GGCAGCAGCACAAAGCTGCTGGCCACC	-	-			CHC1061T									Valid												ENST00000340313.4:c.531_557del	p.Val178_Pro186del	p.V178_P186del	ENST00000340313	NM_033347.1	177	ctGGTGGCCAGCAGCTTTGTGCTGCTGCCa/cta	0	validated		damaging	
KBTBD13		inserm.fr	GRCh37	15	65370158	65370168	+	frameshift_variant	Frame_Shift_Del	DEL	GCTGCGGCGTC	-	-			CHC1715T																					ENST00000432196.2:c.1005_1015del	p.Glu335AspfsTer63	p.E335Dfs*63	ENST00000432196	NM_001101362.2	335	gaGCTGCGGCGTCcg/gacg	0	validated		damaging	
BHLHE22		inserm.fr	GRCh37	8	65493869	65493872	+	frameshift_variant	Frame_Shift_Del	DEL	AGGT	-	-			BCM671T																					ENST00000321870.1:c.522_525del	p.Gly175ValfsTer83	p.G175Vfs*83	ENST00000321870	NM_152414.4	174	ggAGGT/gg	0	validated		damaging	
BPTF		inserm.fr	GRCh37	17	65905755	65905789	+	frameshift_variant	Frame_Shift_Del	DEL	GTCCAAAAAAAATAAAAATAGAGCCTGATTCTGAA	-	-			CHC2115T									Valid												ENST00000306378.6:c.2870_2904del	p.Ser957LysfsTer3	p.S957Kfs*3	ENST00000306378	NM_182641.3	957	aGTCCAAAAAAAATAAAAATAGAGCCTGATTCTGAA/a	0	validated		damaging	
PRKAR1A		inserm.fr	GRCh37	17	66519875	66519890	+	frameshift_variant	Frame_Shift_Del	DEL	AAAGATTACAAGACAA	-	-			CHC2103T																					ENST00000358598.2:c.358_373del	p.Lys120TrpfsTer4	p.K120Wfs*4	ENST00000358598	NM_212471.2	120	AAAGATTACAAGACAAtg/tg	0	validated		damaging	
PRKAR1A		inserm.fr	GRCh37	17	66526077	66526095	+	frameshift_variant	Frame_Shift_Del	DEL	TACAACGTCGGTCAGAAAA	-	-			CHC301T									Valid												ENST00000358598.2:c.909_927del	p.Gln304LysfsTer21	p.Q304Kfs*21	ENST00000358598	NM_212471.2	303	cTACAACGTCGGTCAGAAAAt/ct	0	validated		damaging	
FAM20A		inserm.fr	GRCh37	17	66596704	66596715	+	inframe_deletion	In_Frame_Del	DEL	AGCTGGCGCTGT	-	-			CHC2103T																					ENST00000592554.1:c.93_104del	p.Gln32_Leu35del	p.Q32_L35del	ENST00000592554	NM_001243746.1	31	gtACAGCGCCAGCTg/gtg	0	validated		damaging	
LRFN4		inserm.fr	GRCh37	11	66626146	66626163	+	inframe_deletion	In_Frame_Del	DEL	ACCATGCACTGGGTCGGT	-	-			CHC1183T																					ENST00000309602.4:c.931_948del	p.Thr311_Gly316del	p.T311_G316del	ENST00000309602	NM_024036.4	311	ACCATGCACTGGGTCGGT/-	0	validated		damaging	
PDE7A		inserm.fr	GRCh37	8	66631556	66631557	+	frameshift_variant	Frame_Shift_Del	DEL	TG	-	-			CHC1717T																					ENST00000401827.3:c.1417_1418del	p.Gln473ValfsTer39	p.Q473Vfs*39	ENST00000401827	NM_001242318.2	473	CAg/g	0	validated		damaging	
AR		inserm.fr	GRCh37	X	66765159	66765215	+	inframe_deletion	In_Frame_Del	DEL	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	-	-			CHC1035T									Valid												ENST00000374690.3:c.183_239del	p.Gln62_Gln80del	p.Q62_Q80del	ENST00000374690	NM_000044.3	57	ctGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAg/ctg	0	validated		damaging	
ADRBK1		inserm.fr	GRCh37	11	67046728	67046730	+	inframe_deletion	In_Frame_Del	DEL	TGG	-	-			CHC434T									Valid												ENST00000308595.5:c.248_250del	p.Val83del	p.V83del	ENST00000308595	NM_001619.3	83	gTGGaa/gaa	0	validated		damaging	
ANKRD13D		inserm.fr	GRCh37	11	67069024	67069039	+	frameshift_variant	Frame_Shift_Del	DEL	GGCATGGAGCGCAACG	-	-			CHC326T									Valid												ENST00000511455.2:c.1414_1429del	p.Gly472SerfsTer29	p.G472Sfs*29	ENST00000511455	NM_207354.2	472	GGCATGGAGCGCAACGag/ag	0	validated		damaging	
E2F4		inserm.fr	GRCh37	16	67228768	67228770	+	inframe_deletion	In_Frame_Del	DEL	TGC	-	-			BCB109T									Valid												ENST00000379378.3:c.693_695del	p.Ala232del	p.A232del	ENST00000379378	NM_001950.3	231	ccTGCc/ccc	0	validated		damaging	
PITPNM1		inserm.fr	GRCh37	11	67265000	67265011	+	inframe_deletion	In_Frame_Del	DEL	GAGAGCCCTCGG	-	-			CHC258T									Valid												ENST00000356404.3:c.1922_1933del	p.Pro641_Ser644del	p.P641_S644del	ENST00000356404	NM_001130848.1	641	cCCGAGGGCTCTCag/cag	0	validated		damaging	
NDUFV1		inserm.fr	GRCh37	11	67377105	67377114	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	AGGTGGGTAG	-	-			CHC1569T																					ENST00000322776.6:c.509_510+8del		p.X170_splice	ENST00000322776	NM_001166102.1	170		0	not done		damaging	
ZFYVE26		inserm.fr	GRCh37	14	68264865	68264869	+	frameshift_variant	Frame_Shift_Del	DEL	GGAGG	-	-			BCM399T									Valid												ENST00000347230.4:c.2110_2114del	p.Pro704Ter	p.P704*	ENST00000347230	NM_015346.3	704	CCTCCt/t	0	validated		damaging	
UBA6		inserm.fr	GRCh37	4	68562417	68562443	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TTATTTGTGCTGGAAAAAAAAACATGG	-	-			CHC1055T									Valid												ENST00000322244.5:c.72-18_80del		p.X24_splice	ENST00000322244	NM_018227.5			0	validated		damaging	
UGT2B10		inserm.fr	GRCh37	4	69682322	69682324	+	inframe_deletion	In_Frame_Del	DEL	TGT	-	-			CHC793T									Valid												ENST00000265403.7:c.586_588del	p.Val196del	p.V196del	ENST00000265403	NM_001075.4	195	gtTGTt/gtt	0	validated		damaging	
KIF23		inserm.fr	GRCh37	15	69714093	69714094	+	splice_donor_variant,intron_variant	Splice_Site	DEL	TA	-	-			CHC884T									Valid												ENST00000260363.4:c.316+3_316+4del		p.X106_splice	ENST00000260363	NM_138555.3			0	validated		damaging	
NUMA1		inserm.fr	GRCh37	11	71729527	71729548	+	frameshift_variant	Frame_Shift_Del	DEL	CAATGCGCTGCTGCATCATGGC	-	-			BCM791T																					ENST00000393695.3:c.754_775del	p.Ala252ThrfsTer3	p.A252Tfs*3	ENST00000393695	NM_006185.2	252	GCCATGATGCAGCAGCGCATTGac/ac	0	validated		damaging	
GPR27		inserm.fr	GRCh37	3	71803924	71803958	+	frameshift_variant	Frame_Shift_Del	DEL	TGGACGGCGGGCTTCGGCCGCGGGCCCACGCCGCC	-	-			BCM545T									Valid												ENST00000304411.2:c.724_758del	p.Trp242ArgfsTer153	p.W242Rfs*153	ENST00000304411	NM_018971.1	242	TGGACGGCGGGCTTCGGCCGCGGGCCCACGCCGCCc/c	0	validated		damaging	
HP		inserm.fr	GRCh37	16	72094121	72094136	+	frameshift_variant	Frame_Shift_Del	DEL	CTCACCACAGGTGCCA	-	-			CHC314T									Valid												ENST00000355906.5:c.554_569del	p.Leu185ArgfsTer2	p.L185Rfs*2	ENST00000355906	NM_005143.3	185	CTCACCACAGGTGCCAcg/cg	0	validated		damaging	
MSC		inserm.fr	GRCh37	8	72755810	72755826	+	frameshift_variant	Frame_Shift_Del	DEL	GCCCGGCGCCCAGGAGC	-	-			CHC1744T																					ENST00000537896.1:c.178_194del	p.Gly60TrpfsTer77	p.G60Wfs*77	ENST00000537896		58	ctGCCCGGCGCCCAGGAGCgc/ctgc	0	validated		damaging	
MSC		inserm.fr	GRCh37	8	72756200	72756258	+	frameshift_variant	Frame_Shift_Del	DEL	TCTTGCAGCCTTCCGCGCTGCCGGCTGTGCCCAGAGCGCAGCGCTCCTCCTCGCCGTCG	-	-			CHC799T																					ENST00000325509.4:c.156_214del	p.Asp53GlufsTer14	p.D53Efs*14	ENST00000325509	NM_005098.3	52	ccCGACGGCGAGGAGGAGCGCTGCGCTCTGGGCACAGCCGGCAGCGCGGAAGGCTGCAAGAgg/ccgg	0	validated		damaging	
MSC		inserm.fr	GRCh37	8	72756653	72756657	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	CCGCG	-	-			CHC1534T																					ENST00000537896.1:c.493_497del	p.Pro165GlufsTer22	p.P165Efs*22	ENST00000537896		165	CCGCGg/g	0	validated		damaging	
MLXIPL		inserm.fr	GRCh37	7	73020279	73020293	+	inframe_deletion	In_Frame_Del	DEL	GAGTCATGGTGAAGA	-	-			CHC805T																					ENST00000313375.3:c.767_781del	p.Leu256_Thr260del	p.L256_T260del	ENST00000313375	NM_032953.2	256	cTCTTCACCATGACTCag/cag	0	validated		damaging	
LLGL2		inserm.fr	GRCh37	17	73552125	73552134	+	splice_acceptor_variant,coding_sequence_variant	Splice_Site	DEL	AGACGGTGGA	-	-			CHC2098T																					ENST00000392550.3:c.76-2_83del		p.X26_splice	ENST00000392550	NM_001031803.1			0	validated		damaging	
PDZRN3		inserm.fr	GRCh37	3	73673315	73673336	+	frameshift_variant	Frame_Shift_Del	DEL	GTGAATTTCTTCTGGTAGCGCA	-	-			BCM683T																					ENST00000263666.4:c.641_662del	p.Leu214ProfsTer28	p.L214Pfs*28	ENST00000263666	NM_015009.1	214	cTGCGCTACCAGAAGAAATTCACc/cc	0	validated		damaging	
EVPL		inserm.fr	GRCh37	17	74004912	74004914	+	inframe_deletion	In_Frame_Del	DEL	CTC	-	-			CHC1756T																					ENST00000301607.3:c.4372_4374del	p.Glu1458del	p.E1458del	ENST00000301607	NM_001988.2	1458	GAG/-	0	validated		damaging	
ALB		inserm.fr	GRCh37	4	74272391	74272392	+	frameshift_variant	Frame_Shift_Del	DEL	AG	-	-			CHC1736T																					ENST00000295897.4:c.184_185del	p.Asp62SerfsTer7	p.D62Sfs*7	ENST00000295897	NM_000477.5	61	gaAGat/gaat	0	validated		damaging	
ALB		inserm.fr	GRCh37	4	74274500	74274501	+	frameshift_variant	Frame_Shift_Del	DEL	AA	-	-			CHC1065T									Valid												ENST00000295897.4:c.460_461del	p.Asn154Ter	p.N154*	ENST00000295897	NM_000477.5	154	AAt/t	0	validated		damaging	
ALB		inserm.fr	GRCh37	4	74274522	74274523	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	AG	-	-			CHC1746T																					ENST00000295897.4:c.482_482+1del		p.X161_splice	ENST00000295897	NM_000477.5	161		0	validated		damaging	
ALB		inserm.fr	GRCh37	4	74274527	74274530	+	splice_region_variant,intron_variant	Splice_Region	DEL	GTAA	-	-			CHC1601T																					ENST00000295897.4:c.482+5_482+8del		p.X161_splice	ENST00000295897	NM_000477.5			0	not done		damaging	
ALB		inserm.fr	GRCh37	4	74275098	74275105	+	frameshift_variant	Frame_Shift_Del	DEL	ATCCTTAC	-	-			CHC1556T																					ENST00000295897.4:c.509_516del	p.His170LeufsTer11	p.H170Lfs*11	ENST00000295897	NM_000477.5	170	cATCCTTAC/c	0	not done		damaging	
ALB		inserm.fr	GRCh37	4	74276075	74276076	+	frameshift_variant	Frame_Shift_Del	DEL	GA	-	-			CHC1556T																					ENST00000295897.4:c.662_663del	p.Arg221ThrfsTer30	p.R221Tfs*30	ENST00000295897	NM_000477.5	221	aGA/a	0	not done		damaging	
ALB		inserm.fr	GRCh37	4	74277791	74277801	+	frameshift_variant	Frame_Shift_Del	DEL	AGTCCACACGG	-	-			CHC614T									Valid												ENST00000295897.4:c.793_803del	p.Val265MetfsTer8	p.V265Mfs*8	ENST00000295897	NM_000477.5	264	aaAGTCCACACGGaa/aaaa	0	validated		damaging	
ALB		inserm.fr	GRCh37	4	74279234	74279239	+	inframe_deletion	In_Frame_Del	DEL	TTGCCG	-	-			CHC1010T																					ENST00000295897.4:c.941_946del	p.Ile314_Glu316delinsLys	p.I314_E316delinsK	ENST00000295897	NM_000477.5	314	aTTGCCGaa/aaa	0	validated		damaging	
ALB		inserm.fr	GRCh37	4	74283347	74283366	+	frameshift_variant	Frame_Shift_Del	DEL	ACATCCTGAAGCAAAAAGAA	-	-			CHC1611T																					ENST00000295897.4:c.1389_1408del	p.Lys463AsnfsTer20	p.K463Nfs*20	ENST00000295897	NM_000477.5	463	aaACATCCTGAAGCAAAAAGAAtg/aatg	0	not done		damaging	
ALB		inserm.fr	GRCh37	4	74283388	74283389	+	splice_donor_variant,intron_variant	Splice_Site	DEL	TG	-	-			BCM703T									Valid												ENST00000295897.4:c.1428+2_1428+3del		p.X476_splice	ENST00000295897	NM_000477.5			0	validated		damaging	
ALB		inserm.fr	GRCh37	4	74284018	74284020	+	inframe_deletion	In_Frame_Del	DEL	AAG	-	-			CHC258T									Valid												ENST00000295897.4:c.1644_1646del	p.Lys549del	p.K549del	ENST00000295897	NM_000477.5	548	AAG/-	0	validated		damaging	
ALB		inserm.fr	GRCh37	4	74284020	74284022	+	inframe_deletion	In_Frame_Del	DEL	GAA	-	-			BCM265T									Valid												ENST00000295897.4:c.1644_1646del	p.Lys549del	p.K549del	ENST00000295897	NM_000477.5	548	aaGAAa/aaa	0	validated		damaging	
TMEM2		inserm.fr	GRCh37	9	74360296	74360297	+	frameshift_variant	Frame_Shift_Del	DEL	CA	-	-			CHC902T																					ENST00000377044.4:c.671_672del	p.Val224GlyfsTer36	p.V224Gfs*36	ENST00000377044	NM_013390.2	224	gTG/g	0	not done		damaging	
COQ6		inserm.fr	GRCh37	14	74425737	74425752	+	frameshift_variant	Frame_Shift_Del	DEL	AACTATGACCAGTCTG	-	-			CHC1594T																					ENST00000334571.2:c.676_691del	p.Asn226LeufsTer16	p.N226Lfs*16	ENST00000334571	NM_182476.2	226	AACTATGACCAGTCTGct/ct	0	validated		damaging	
UBE2O		inserm.fr	GRCh37	17	74448971	74448973	+	inframe_deletion	In_Frame_Del	DEL	CGC	-	-			CHC1569T																					ENST00000319380.7:c.251_253del	p.Gly84del	p.G84del	ENST00000319380	NM_022066.3	84	gGCGag/gag	0	not done		damaging	
PCGF1		inserm.fr	GRCh37	2	74733165	74733170	+	inframe_deletion	In_Frame_Del	DEL	GAGGTT	-	-			BCM689T																					ENST00000233630.6:c.439_444del	p.Asn147_Leu148del	p.N147_L148del	ENST00000233630	NM_032673.2	147	AACCTC/-	0	validated		damaging	
POLK		inserm.fr	GRCh37	5	74892332	74892334	+	inframe_deletion	In_Frame_Del	DEL	AGA	-	-			BCM723T																					ENST00000241436.4:c.1814_1816del	p.Lys605del	p.K605del	ENST00000241436	NM_016218.2	605	aAGAtg/atg	0	validated		damaging	
SEMA4F		inserm.fr	GRCh37	2	74902134	74902136	+	inframe_deletion	In_Frame_Del	DEL	ATG	-	-			CHC258T																					ENST00000357877.2:c.1124_1126del	p.Asp375del	p.D375del	ENST00000357877	NM_004263.4	374	aATGat/aat	0	validated		damaging	
KLHL35		inserm.fr	GRCh37	11	75139604	75139606	+	inframe_deletion	In_Frame_Del	DEL	GCA	-	-			CHC1603T																					ENST00000539798.1:c.947_949del	p.Leu316del	p.L316del	ENST00000539798	NM_001039548.2	316	cTGCcc/ccc	0	validated		damaging	
SCAMP2		inserm.fr	GRCh37	15	75146968	75146978	+	frameshift_variant	Frame_Shift_Del	DEL	GTCAGCTGGGT	-	-			BCB231T									Valid												ENST00000268099.9:c.70_80del	p.Thr24GlnfsTer181	p.T24Qfs*181	ENST00000268099	NM_005697.3	24	ACCCAGCTGACc/c	0	validated		damaging	
SEPT9		inserm.fr	GRCh37	17	75471786	75471791	+	intron_variant	Intron	DEL	AGGAAG	-	-			CHC912T									Valid												ENST00000427177.1:c.722-6440_722-6435del		*241*	ENST00000427177	NM_001113491.1			0	validated		damaging	
POR		inserm.fr	GRCh37	7	75613146	75613172	+	inframe_deletion,splice_region_variant	In_Frame_Del	DEL	CGTCGTCATGTCCCTGAACAACCTGGA	-	-			BCM791T									Valid												ENST00000461988.1:c.1038_1064del	p.Val347_Asp355del	p.V347_D355del	ENST00000461988	NM_000941.2	346	gaCGTCGTCATGTCCCTGAACAACCTGGAt/gat	0	validated		damaging	
FLVCR2		inserm.fr	GRCh37	14	76045406	76045423	+	inframe_deletion	In_Frame_Del	DEL	CCCAGCGTCTCGGTCCAT	-	-			CHC961T									Valid												ENST00000238667.4:c.102_119del	p.Val35_Ser40del	p.V35_S40del	ENST00000238667	NM_017791.2	31	CCCAGCGTCTCGGTCCAT/-	0	validated		damaging	
BBS10		inserm.fr	GRCh37	12	76740740	76740755	+	frameshift_variant	Frame_Shift_Del	DEL	ATAAGAGAAACTTCTT	-	-			CHC2098T																					ENST00000393262.3:c.1010_1025del	p.Glu337AlafsTer27	p.E337Afs*27	ENST00000393262	NM_024685.3	337	gAAGAAGTTTCTCTTATc/gc	0	validated		damaging	
TIMP2		inserm.fr	GRCh37	17	76867001	76867004	+	frameshift_variant	Frame_Shift_Del	DEL	TTCC	-	-			CHC1734T																					ENST00000262768.7:c.316_319del	p.Gly106ArgfsTer30	p.G106Rfs*30	ENST00000262768	NM_003255.4	106	GGAAag/ag	0	validated		damaging	
MYO7A		inserm.fr	GRCh37	11	76892543	76892567	+	frameshift_variant	Frame_Shift_Del	DEL	AATCACTCAGACATGGTGGACAAGA	-	-			BCM783T									Valid												ENST00000409709.3:c.2812_2836del	p.Asn938CysfsTer116	p.N938Cfs*116	ENST00000409709	NM_000260.3	938	AATCACTCAGACATGGTGGACAAGAtg/tg	0	validated		damaging	
ZDHHC17		inserm.fr	GRCh37	12	77235763	77235789	+	inframe_deletion,splice_region_variant	In_Frame_Del	DEL	TCTCAACTTTTTATTTATCCATCTTCC	-	-			CHC2351T																					ENST00000426126.2:c.1143_1169del	p.Asp381_Pro390delinsGlu	p.D381_P390delinsE	ENST00000426126	NM_015336.2	381	gaTCTCAACTTTTTATTTATCCATCTTCCa/gaa	0	not done		damaging	
PARD6G		inserm.fr	GRCh37	18	77918006	77918010	+	frameshift_variant	Frame_Shift_Del	DEL	CCGCC	-	-			CHC302T																					ENST00000353265.3:c.775_779del	p.Gly259ProfsTer37	p.G259Pfs*37	ENST00000353265	NM_032510.3	259	GGCGGc/c	0	validated		damaging	
KCNMA1		inserm.fr	GRCh37	10	78729738	78729747	+	frameshift_variant	Frame_Shift_Del	DEL	AGCTTAGGCG	-	-			BCM671T									Valid												ENST00000404857.1:c.2171_2180del	p.Ser724Ter	p.S724*	ENST00000404857	NM_001161353.1	724	tCGCCTAAGCTg/tg	0	validated		damaging	
VPS13A		inserm.fr	GRCh37	9	79955123	79955130	+	frameshift_variant	Frame_Shift_Del	DEL	GTCCAATC	-	-			CHC1205T																					ENST00000360280.3:c.6804_6811del	p.Ser2269ValfsTer4	p.S2269Vfs*4	ENST00000360280	NM_033305.2	2268	ttGTCCAATCag/ttag	0	validated		damaging	
FASN		inserm.fr	GRCh37	17	80042019	80042035	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CCTCCAGCGTCCTGGGG	-	-			CHC2141T																					ENST00000306749.2:c.4920-6_4930del		p.X1640_splice	ENST00000306749	NM_004104.4			0	validated		damaging	
FASN		inserm.fr	GRCh37	17	80043247	80043259	+	frameshift_variant	Frame_Shift_Del	DEL	GACACCCTGGAGA	-	-			CHC2103T																					ENST00000306749.2:c.4142_4154del	p.Phe1381CysfsTer7	p.F1381Cfs*7	ENST00000306749	NM_004104.4	1381	tTCTCCAGGGTGTCg/tg	0	validated		damaging	
FASN		inserm.fr	GRCh37	17	80046856	80046880	+	frameshift_variant	Frame_Shift_Del	DEL	CGTGGGGCGCGATCTCCAGCACCAC	-	-			CHC879T																					ENST00000306749.2:c.2269_2293del	p.Val757ProfsTer7	p.V757Pfs*7	ENST00000306749	NM_004104.4	757	GTGGTGCTGGAGATCGCGCCCCACGcc/cc	0	validated		damaging	
FASN		inserm.fr	GRCh37	17	80047244	80047260	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	AACTCAAACACCGGGGC	-	-			CHC320T																					ENST00000306749.2:c.1966_1982del	p.Ala656ArgfsTer93	p.A656Rfs*93	ENST00000306749	NM_004104.4	656	GCCCCGGTGTTTGAGTTc/c	0	validated		damaging	
ZCCHC9		inserm.fr	GRCh37	5	80608479	80608497	+	stop_lost,3_prime_UTR_variant	Nonstop_Mutation	DEL	TGATAACAGCTAGCACTAT	-	-			CHC1185T																					ENST00000254037.2:c.814_*16del		*272*	ENST00000254037		272		0	validated		damaging	
PTPRQ		inserm.fr	GRCh37	12	80865966	80865971	+	inframe_deletion	In_Frame_Del	DEL	TGCGGC	-	-			CHC1211T																					ENST00000266688.5:c.1112_1117del	p.Ala371_Ala372del	p.A371_A372del	ENST00000266688		370	atTGCGGCt/att	0	validated		damaging	
PTPRQ		inserm.fr	GRCh37	12	80982012	80982017	+	inframe_deletion	In_Frame_Del	DEL	AAAATT	-	-			CHC1602T																					ENST00000266688.5:c.4379_4384del	p.Lys1460_Ile1461del	p.K1460_I1461del	ENST00000266688		1460	AAAATT/-	0	validated		damaging	
SFTPA2		inserm.fr	GRCh37	10	81318709	81318713	+	frameshift_variant	Frame_Shift_Del	DEL	CAGCC	-	-			CHC437T																					ENST00000372325.2:c.221_225del	p.Gly74AlafsTer30	p.G74Afs*30	ENST00000372325	NM_001098668.2	74	gGGCTG/g	0	validated		damaging	
MEX3B		inserm.fr	GRCh37	15	82337999	82338007	+	inframe_deletion	In_Frame_Del	DEL	GCCGCCGCT	-	-			CHC1743T																					ENST00000329713.4:c.40_48del	p.Ser14_Gly16del	p.S14_G16del	ENST00000329713	NM_032246.4	14	AGCGGCGGC/-	0	not done		damaging	
LPHN2		inserm.fr	GRCh37	1	82421743	82421774	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TGGTAAGTGAATCTACTGTCAAGTTTAATTTT	-	-			CHC2103T																					ENST00000319517.6:c.1965_1966+30del		p.X655_splice	ENST00000319517	NM_012302.2	655		0	validated		damaging	
PGM3		inserm.fr	GRCh37	6	83900610	83900625	+	frameshift_variant	Frame_Shift_Del	DEL	CGAAACATGACATGAT	-	-			BCM397T									Valid												ENST00000506587.1:c.191_206del	p.Asp64AlafsTer5	p.D64Afs*5	ENST00000506587	NM_001199917.1	64	gATCATGTCATGTTTCGc/gc	0	validated		damaging	
SUCLG1		inserm.fr	GRCh37	2	84686325	84686340	+	frameshift_variant	Frame_Shift_Del	DEL	GGCGGCGAGGCCGCTG	-	-			CHC1741T																					ENST00000393868.2:c.54_69del	p.Ser18ArgfsTer82	p.S18Rfs*82	ENST00000393868	NM_003849.3	18	agCAGCGGCCTCGCCGCC/ag	0	validated		damaging	
LRRIQ1		inserm.fr	GRCh37	12	85445984	85445987	+	frameshift_variant	Frame_Shift_Del	DEL	CTAT	-	-			CHC1081T																					ENST00000393217.2:c.708_711del	p.Tyr237LysfsTer43	p.Y237Kfs*43	ENST00000393217	NM_001079910.1	236	ctCTAT/ct	0	validated		damaging	
TMEM150A		inserm.fr	GRCh37	2	85828227	85828241	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GGACCTGGCAGGCAG	-	-			CHC2216T																					ENST00000409668.1:c.114-11_117del		p.X38_splice	ENST00000409668				0	validated		damaging	
ME3		inserm.fr	GRCh37	11	86157488	86157489	+	frameshift_variant	Frame_Shift_Del	DEL	CA	-	-			CHC1611T																					ENST00000543262.1:c.1421_1422del	p.Val474AspfsTer37	p.V474Dfs*37	ENST00000543262	NM_001161586.1	474	gTG/g	0	not done		damaging	
ABCB4		inserm.fr	GRCh37	7	87060805	87060831	+	inframe_deletion	In_Frame_Del	DEL	AACCCAGCGATGACATCTGCATTTCGG	-	-			CHC1097T																					ENST00000265723.4:c.1782_1808del	p.Arg595_Phe603del	p.R595_F603del	ENST00000265723	NM_000443.3	594	gtCCGAAATGCAGATGTCATCGCTGGGTTt/gtt	0	validated		damaging	
ZNF292		inserm.fr	GRCh37	6	87969769	87969784	+	frameshift_variant	Frame_Shift_Del	DEL	CAGATCTACCTGCATT	-	-			CHC2103T																					ENST00000369577.3:c.6422_6437del	p.Ser2141PhefsTer24	p.S2141Ffs*24	ENST00000369577	NM_015021.1	2141	tCAGATCTACCTGCATTt/tt	0	validated		damaging	
AFF1		inserm.fr	GRCh37	4	88035557	88035582	+	frameshift_variant	Frame_Shift_Del	DEL	CTGGCTGACCAAAGTCAGCCAGCCAG	-	-			CHC320T									Valid												ENST00000395146.4:c.1575_1600del	p.Trp525CysfsTer19	p.W525Cfs*19	ENST00000395146	NM_001166693.1	524	aaCTGGCTGACCAAAGTCAGCCAGCCAGct/aact	0	validated		damaging	
AFF1		inserm.fr	GRCh37	4	88046192	88046203	+	inframe_deletion	In_Frame_Del	DEL	GAAGCAGAAAGA	-	-			CHC798T									Valid												ENST00000395146.4:c.2472_2483del	p.Glu824_Arg827del	p.E824_R827del	ENST00000395146	NM_001166693.1	824	GAAGCAGAAAGA/-	0	validated		damaging	
KLHL8		inserm.fr	GRCh37	4	88084792	88084822	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CACCTGAAAAGACGGAGAAGAAAAAATGTTA	-	-			CHC1704T																					ENST00000273963.5:c.1740-28_1742del		p.X580_splice	ENST00000273963	NM_020803.3			0	validated		damaging	
ZC3H18		inserm.fr	GRCh37	16	88677889	88677891	+	inframe_deletion	In_Frame_Del	DEL	AAG	-	-			BCM723T									Valid												ENST00000301011.5:c.1420_1422del	p.Lys474del	p.K474del	ENST00000301011	NM_144604.3	474	AAG/-	0	validated		damaging	
MINPP1		inserm.fr	GRCh37	10	89265197	89265205	+	inframe_deletion	In_Frame_Del	DEL	CCGCCTGCG	-	-			CHC1597T																					ENST00000371996.4:c.525_533del	p.Arg176_Arg178del	p.R176_R178del	ENST00000371996	NM_004897.4	175	ggCCGCCTGCGg/ggg	0	validated		damaging	
PTEN		inserm.fr	GRCh37	10	89653787	89653790	+	frameshift_variant	Frame_Shift_Del	DEL	TATC	-	-			CHC2208T																					ENST00000371953.3:c.85_88del	p.Tyr29GlnfsTer24	p.Y29Qfs*24	ENST00000371953	NM_000314.4	29	TATCca/ca	0	validated		damaging	
GPR98		inserm.fr	GRCh37	5	89939664	89939667	+	frameshift_variant	Frame_Shift_Del	DEL	GGAA	-	-			CHC1079T																					ENST00000405460.2:c.2598_2601del	p.Glu867AlafsTer11	p.E867Afs*11	ENST00000405460	NM_032119.3	866	cgGGAA/cg	0	validated		damaging	
MDN1		inserm.fr	GRCh37	6	90497598	90497610	+	frameshift_variant	Frame_Shift_Del	DEL	CAGGTGCCACTTT	-	-			CHC303T									Valid												ENST00000369393.3:c.1297_1309del	p.Lys433AspfsTer11	p.K433Dfs*11	ENST00000369393		433	AAAGTGGCACCTGga/ga	0	validated		damaging	
TDP1		inserm.fr	GRCh37	14	90499466	90499478	+	frameshift_variant	Frame_Shift_Del	DEL	AAGTGAAACAGAA	-	-			CHC1530T																					ENST00000335725.4:c.1661_1673del	p.Lys554SerfsTer58	p.K554Sfs*58	ENST00000335725	NM_018319.3	554	aAAGTGAAACAGAAg/ag	0	not done		damaging	
CIB1		inserm.fr	GRCh37	15	90774348	90774357	+	frameshift_variant	Frame_Shift_Del	DEL	CTCAGACGCA	-	-			BCM269T									Valid												ENST00000328649.6:c.435_444del	p.Ser145ArgfsTer2	p.S145Rfs*2	ENST00000328649	NM_006384.3	145	agTGCGTCTGAG/ag	0	validated		damaging	
OSGIN2		inserm.fr	GRCh37	8	90937761	90937813	+	3_prime_UTR_variant	3'UTR	DEL	AGCAAGTTTACAAGTAATTAAAATGGACAGTTTGCCATTAAAGATTTTTAATA	-	-			CHC1556T																					ENST00000451899.2:c.*1_*53del		*1*	ENST00000451899	NM_001126111.1			0	not done		damaging	
VPS33B		inserm.fr	GRCh37	15	91560242	91560254	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	CTACTTCGTGTTG	-	-			CHC1566T																					ENST00000333371.3:c.178_190del	p.Gln60ThrfsTer50	p.Q60Tfs*50	ENST00000333371	NM_018668.3	60	CAACACGAAGTAGac/ac	0	validated		damaging	
HFM1		inserm.fr	GRCh37	1	91818677	91818694	+	inframe_deletion	In_Frame_Del	DEL	CATGATGATAAGCAGCAC	-	-			CHC1592T																					ENST00000370425.3:c.1745_1762del	p.Gly582_His587del	p.G582_H587del	ENST00000370425	NM_001017975.3	582	gGTGCTGCTTATCATCATGct/gct	0	not done		damaging	
SECISBP2		inserm.fr	GRCh37	9	91940592	91940811	+	splice_acceptor_variant,splice_donor_variant,intron_variant	Splice_Site	DEL	GTGAGTAGTGATGTTGTTTTGTTGTGTCCTTTAGTTGGTTGCTTTAATGTTTAAAATGTAAAGAAATGGTAAATTTGTACATCATATTTAAGTATCATGTATTTTTTTGTATTTAACCTTTTAAAAAATGATTGAATTGTGAATACTTAATATTTTGCTGCTTTAAACCTTTTTTATAGTGGTGGTTTTATTTCATGTTGCTTTTTAATCTTTCCTGCAG	-	-			CHC2351T																					ENST00000375807.3:c.432+1_433-1del		p.X144_splice	ENST00000375807	NM_024077.3			0	not done		damaging	
GADD45G		inserm.fr	GRCh37	9	92220038	92220060	+	frameshift_variant,start_lost	Frame_Shift_Del	DEL	TGACTCTGGAAGAAGTCCGCGGC	-	-			CHC258T																					ENST00000252506.6:c.2_24del	p.Met1_?8	p.M1_?8	ENST00000252506	NM_006705.3	1	aTGACTCTGGAAGAAGTCCGCGGC/a	0	validated		damaging	
EVI5		inserm.fr	GRCh37	1	93091421	93091423	+	inframe_deletion	In_Frame_Del	DEL	CTA	-	-			BCM397T																					ENST00000370331.1:c.1548_1550del	p.Arg517del	p.R517del	ENST00000370331	NM_005665.4	516	ctTAGa/cta	0	validated		damaging	
ITPK1		inserm.fr	GRCh37	14	93407915	93407932	+	inframe_deletion	In_Frame_Del	DEL	GGAGGCCTTGGTGGCCAG	-	-			CHC898T																					ENST00000267615.6:c.1219_1236del	p.Leu407_Ser412del	p.L407_S412del	ENST00000267615		407	CTGGCCACCAAGGCCTCC/-	0	validated		damaging	
PEG10		inserm.fr	GRCh37	7	94293214	94293217	+	frameshift_variant	Frame_Shift_Del	DEL	GTCC	-	-			CHC434T																					ENST00000482108.1:c.348_351del	p.Arg117SerfsTer4	p.R117Sfs*4	ENST00000482108	NM_001172437.1	116	GTCCgt/gt	0	validated		damaging	
DDX24		inserm.fr	GRCh37	14	94517747	94517749	+	inframe_deletion	In_Frame_Del	DEL	CTT	-	-			CHC327T									Valid												ENST00000330836.5:c.2368_2370del	p.Lys790del	p.K790del	ENST00000330836	NM_020414.3	790	AAG/-	0	validated		damaging	
SERPINA10		inserm.fr	GRCh37	14	94756919	94756921	+	inframe_deletion	In_Frame_Del	DEL	CAC	-	-			BCM723T																					ENST00000393096.1:c.10_12del	p.Val4del	p.V4del	ENST00000393096	NM_016186.2	4	GTG/-	0	validated		damaging	
SKIC3		inserm.fr	GRCh37	5	94852863	94852865	+	inframe_deletion	In_Frame_Del	DEL	GGA	-	-			BCM703T																					ENST00000358746.2:c.2276_2278del	p.Leu759del	p.L759del	ENST00000358746	NM_014639.3	759	cTCCac/cac	0	validated		damaging	
RBP4		inserm.fr	GRCh37	10	95353632	95353646	+	inframe_deletion	In_Frame_Del	DEL	CTGCCTTACAATCTT	-	-			CHC2115T																					ENST00000371467.1:c.502_516del	p.Lys168_Gln172del	p.K168_Q172del	ENST00000371467		168	AAGATTGTAAGGCAG/-	0	validated		damaging	
BICD2		inserm.fr	GRCh37	9	95526964	95526966	+	inframe_deletion	In_Frame_Del	DEL	CCA	-	-			BCM423T																					ENST00000356884.6:c.61_63del	p.Trp21del	p.W21del	ENST00000356884	NM_001003800.1	21	TGG/-	0	validated		damaging	
TEKT4		inserm.fr	GRCh37	2	95537709	95537710	+	frameshift_variant	Frame_Shift_Del	DEL	GC	-	-			CHC736T									Valid												ENST00000295201.4:c.385_386del	p.Ala129ProfsTer13	p.A129Pfs*13	ENST00000295201	NM_144705.2	129	GCc/c	0	validated		damaging	
KIAA1429		inserm.fr	GRCh37	8	95539182	95539183	+	frameshift_variant	Frame_Shift_Del	DEL	CT	-	-			CHC898T																					ENST00000297591.5:c.1289_1290del	p.Gln430LeufsTer58	p.Q430Lfs*58	ENST00000297591	NM_015496.4	430	cAG/c	0	validated		damaging	
VEZT		inserm.fr	GRCh37	12	95689832	95689859	+	frameshift_variant	Frame_Shift_Del	DEL	AGAAGCTTATGTAGATGATATAGATATT	-	-			CHC898T																					ENST00000436874.1:c.1629_1656del	p.Glu544IlefsTer34	p.E544Ifs*34	ENST00000436874	NM_017599.3	543	ttAGAAGCTTATGTAGATGATATAGATATT/tt	0	validated		damaging	
CYP2C9		inserm.fr	GRCh37	10	96708962	96708965	+	frameshift_variant	Frame_Shift_Del	DEL	AAGT	-	-			CHC794T									Valid												ENST00000260682.6:c.742_745del	p.Val248LysfsTer9	p.V248Kfs*9	ENST00000260682	NM_000771.3	247	aAAGTa/aa	0	validated		damaging	
ATG2B		inserm.fr	GRCh37	14	96800061	96800063	+	inframe_deletion	In_Frame_Del	DEL	AAA	-	-			CHC2034T																					ENST00000359933.4:c.1169_1171del	p.Phe390del	p.F390del	ENST00000359933	NM_018036.5	390	tTTTat/tat	0	validated		damaging	
ANKRD39		inserm.fr	GRCh37	2	97523692	97523823	+	start_lost,5_prime_UTR_variant	Translation_Start_Site	DEL	GGGCCCGTCCGCGCAGGGCCGAGGCGTCGCCATCCCGGCCCCGGCGTCAGTCGATCCGCCCCGGGTCTCAGGCTCAGCCTCGGCGGGAGGGGCGGACGCAGGGCCCGCCCCGCGTCCCTGATCTGGCCGCTC	-	-			CHC1725T																					ENST00000393537.4:c.-99_33del		*33*	ENST00000393537	NM_016466.5			0	validated		damaging	
SEMA4C		inserm.fr	GRCh37	2	97529697	97529698	+	frameshift_variant	Frame_Shift_Del	DEL	AT	-	-			CHC303T									Valid												ENST00000305476.5:c.1295_1296del	p.Asp432GlyfsTer30	p.D432Gfs*30	ENST00000305476	NM_017789.4	432	gAT/g	0	validated		damaging	
ZNF518A		inserm.fr	GRCh37	10	97918208	97918210	+	non_coding_transcript_exon_variant	RNA	DEL	TAA	-	-			CHC432T																					ENST00000534948.1:n.2986_2988del		*996*	ENST00000534948				0	validated		damaging	
MTDH		inserm.fr	GRCh37	8	98657085	98657087	+	inframe_deletion	In_Frame_Del	DEL	GAA	-	-			BCM723T									Valid												ENST00000336273.3:c.351_353del	p.Lys117del	p.K117del	ENST00000336273	NM_178812.3	117	aaGAAc/aac	0	validated		damaging	
FBXL4		inserm.fr	GRCh37	6	99353472	99353476	+	frameshift_variant	Frame_Shift_Del	DEL	GCTCA	-	-			CHC303T									Valid												ENST00000369244.2:c.929_933del	p.Leu310ProfsTer5	p.L310Pfs*5	ENST00000369244		310	cTGAGC/c	0	validated		damaging	
ZFYVE27		inserm.fr	GRCh37	10	99512907	99512914	+	frameshift_variant	Frame_Shift_Del	DEL	GGCTCCGC	-	-			CHC1209T																					ENST00000356257.4:c.1025_1032del	p.Arg342GlnfsTer29	p.R342Qfs*29	ENST00000356257	NM_001002261.3	342	cGGCTCCGC/c	0	validated		damaging	
VPS13B		inserm.fr	GRCh37	8	100796639	100796640	+	frameshift_variant	Frame_Shift_Del	DEL	GA	-	-			BCB325T									Valid												ENST00000358544.2:c.7951_7952del	p.Glu2651LysfsTer28	p.E2651Kfs*28	ENST00000358544	NM_017890.4	2651	GAa/a	0	validated		damaging	
ASCC3		inserm.fr	GRCh37	6	101099458	101099459	+	frameshift_variant	Frame_Shift_Del	DEL	GC	-	-			CHC798T									Valid												ENST00000369162.2:c.3052_3053del	p.Ala1018Ter	p.A1018*	ENST00000369162	NM_006828.2	1018	GCt/t	0	validated		damaging	
LINS		inserm.fr	GRCh37	15	101109976	101109978	+	inframe_deletion	In_Frame_Del	DEL	GAG	-	-			CHC2052T																					ENST00000314742.8:c.1739_1741del	p.Pro580del	p.P580del	ENST00000314742	NM_001040616.2	580	cCTCat/cat	0	validated		damaging	
ENTPD7		inserm.fr	GRCh37	10	101458526	101458546	+	inframe_deletion	In_Frame_Del	DEL	TACGGCTTCTCTGAGTTTTTT	-	-			CHC303T									Valid												ENST00000370489.4:c.1248_1268del	p.Gly417_Tyr423del	p.G417_Y423del	ENST00000370489	NM_020354.3	416	TACGGCTTCTCTGAGTTTTTT/-	0	validated		damaging	
UTP20		inserm.fr	GRCh37	12	101774991	101775013	+	splice_donor_variant,intron_variant	Splice_Site	DEL	TAAGAATTGTAGTTCTCCCAGTT	-	-			CHC303T									Valid												ENST00000261637.4:c.7656+5_7656+27del		p.X2552_splice	ENST00000261637	NM_014503.2			0	validated		damaging	
DIO3		inserm.fr	GRCh37	14	102028196	102028211	+	frameshift_variant	Frame_Shift_Del	DEL	GAAGTTGGATTTCTTC	-	-			CHC1746T																					ENST00000510508.4:c.363_378del	p.Lys122SerfsTer51	p.K122Sfs*51	ENST00000510508		121	caGAAGTTGGATTTCTTC/ca	0	validated		damaging	
GIN1		inserm.fr	GRCh37	5	102444298	102444300	+	inframe_deletion	In_Frame_Del	DEL	TCT	-	-			CHC798T									Valid												ENST00000399004.2:c.112_114del	p.Arg38del	p.R38del	ENST00000399004	NM_017676.2	38	AGA/-	0	validated		damaging	
DNAJC2		inserm.fr	GRCh37	7	102962509	102962544	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TCTAATTCAGCTTGTCTTTGCTTTAAAAAAAGGGAG	-	-			CHC2216T																					ENST00000379263.3:c.934-16_953del		p.X312_splice	ENST00000379263	NM_014377.1			0	validated		damaging	
TRAF3		inserm.fr	GRCh37	14	103371846	103371858	+	frameshift_variant	Frame_Shift_Del	DEL	ATGCGTGGAGAAT	-	-			CHC197T									Valid												ENST00000560371.1:c.1435_1447del	p.Arg479MetfsTer12	p.R479Mfs*12	ENST00000560371	NM_145725.2	478	ATGCGTGGAGAATat/at	0	validated		damaging	
CDC42BPB		inserm.fr	GRCh37	14	103410272	103410279	+	frameshift_variant	Frame_Shift_Del	DEL	GCCCTCCG	-	-			BCB231T																					ENST00000361246.2:c.4357_4364del	p.Arg1453ThrfsTer15	p.R1453Tfs*15	ENST00000361246	NM_006035.3	1453	CGGAGGGCa/a	0	validated		damaging	
EXOC3L4		inserm.fr	GRCh37	14	103566724	103566740	+	frameshift_variant	Frame_Shift_Del	DEL	CTTCTCCCGGGCCAGCC	-	-			CHC1079T																					ENST00000380069.3:c.168_184del	p.Phe57AlafsTer31	p.F57Afs*31	ENST00000380069	NM_001077594.1	56	gcCTTCTCCCGGGCCAGCCag/gcag	0	validated		damaging	
ALDOB		inserm.fr	GRCh37	9	104184093	104184113	+	inframe_deletion	In_Frame_Del	DEL	AGTAGGTATAGCAGGCTGTGA	-	-			CHC155T									Valid												ENST00000374855.4:c.1073_1093del	p.Phe358_Tyr364del	p.F358_Y364del	ENST00000374855	NM_000035.3	358	tTCACAGCCTGCTATACCTACTag/tag	0	validated		damaging	
TRIM8		inserm.fr	GRCh37	10	104417101	104417118	+	stop_lost,3_prime_UTR_variant	Nonstop_Mutation	DEL	TGACGAGCTAACGCCACG	-	-			CHC1720T																					ENST00000302424.7:c.1646_*7del		*549*	ENST00000302424	NM_030912.2	549		0	validated		damaging	
CYP17A1		inserm.fr	GRCh37	10	104592871	104592907	+	frameshift_variant	Frame_Shift_Del	DEL	TCTTGATCTGGGCCAGCATTGCCATTATCTGAGTTCA	-	-			CHC1556T																					ENST00000369887.3:c.812_848del	p.Met271ThrfsTer14	p.M271Tfs*14	ENST00000369887	NM_000102.3	271	aTGAACTCAGATAATGGCAATGCTGGCCCAGATCAAGAc/ac	0	not done		damaging	
CYP17A1		inserm.fr	GRCh37	10	104592945	104592985	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	AGAGTCACTCCGGAATTTCTCCTGGGTTGGGTGAGGTTGGG	-	-			CHC2112T																					ENST00000369887.3:c.754-20_774del		p.X252_splice	ENST00000369887	NM_000102.3			0	validated		damaging	
C14orf80		inserm.fr	GRCh37	14	105964148	105964150	+	inframe_deletion	In_Frame_Del	DEL	GCA	-	-			CHC1603T																					ENST00000392522.3:c.785_787del	p.Gly262_Thr263delinsAla	p.G262_T263delinsA	ENST00000392522	NM_001134875.1	262	gGCAcc/gcc	0	validated		damaging	
WDR96		inserm.fr	GRCh37	10	105974081	105974102	+	frameshift_variant	Frame_Shift_Del	DEL	TTGATAAGCACAGCTGGCGCCA	-	-			CHC1744T																					ENST00000357060.3:c.499_520del	p.Trp167ValfsTer5	p.W167Vfs*5	ENST00000357060	NM_025145.5	167	TGGCGCCAGCTGTGCTTATCAAgt/gt	0	validated		damaging	
EFNA5		inserm.fr	GRCh37	5	106722940	106722961	+	frameshift_variant	Frame_Shift_Del	DEL	TGGTTCTAATGAATTTTCTACT	-	-			CHC1085T																					ENST00000333274.6:c.540_561del	p.Val181GlnfsTer39	p.V181Qfs*39	ENST00000333274	NM_001962.2	180	aaAGTAGAAAATTCATTAGAACCA/aa	0	validated		damaging	
BCAP29		inserm.fr	GRCh37	7	107221255	107221274	+	frameshift_variant	Frame_Shift_Del	DEL	ATGCCGAAATAGGACTCATT	-	-			BCM735T																					ENST00000379119.2:c.38_57del	p.Tyr13PhefsTer20	p.Y13Ffs*20	ENST00000379119	NM_001008405.2	13	tATGCCGAAATAGGACTCATT/t	0	validated		damaging	
COL4A6		inserm.fr	GRCh37	X	107681426	107681429	+	intron_variant	Intron	DEL	TGCT	-	-			CHC218T																					ENST00000372216.4:c.15-206_15-203del		*5*	ENST00000372216	NM_001847.2			0	validated		damaging	
ATM		inserm.fr	GRCh37	11	108160335	108160338	+	frameshift_variant	Frame_Shift_Del	DEL	TATC	-	-			BCM759T									Valid												ENST00000278616.4:c.4243_4246del	p.Tyr1415ArgfsTer35	p.Y1415Rfs*35	ENST00000278616	NM_000051.3	1415	TATCag/ag	0	validated		damaging	
USP30		inserm.fr	GRCh37	12	109511319	109511344	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CAAACACTGTGAACACCAGGTAAATA	-	-			CHC1041T									Valid												ENST00000257548.5:c.705_720+10del		p.X235_splice	ENST00000257548	NM_032663.3	234		0	validated		damaging	
ARHGAP20		inserm.fr	GRCh37	11	110451471	110451479	+	inframe_deletion	In_Frame_Del	DEL	TGCATCACA	-	-			CHC1629T																					ENST00000260283.4:c.2191_2199del	p.Cys731_Ala733del	p.C731_A733del	ENST00000260283	NM_020809.3	731	TGTGATGCA/-	0	validated		damaging	
WDR36		inserm.fr	GRCh37	5	110459628	110459634	+	splice_region_variant,intron_variant	Splice_Region	DEL	AAACAAA	-	-			CHC1738T																					ENST00000506538.2:c.2436+6_2436+12del		p.X812_splice	ENST00000506538	NM_139281.2			0	not done		damaging	
RAD9B		inserm.fr	GRCh37	12	110960123	110960143	+	inframe_deletion	In_Frame_Del	DEL	TGCAATGAAAAGAGTGGATGG	-	-			CHC1915T									Valid												ENST00000392672.4:c.1032_1052del	p.Ala345_Gly351del	p.A345_G351del	ENST00000392672	NM_152442.3	344	ccTGCAATGAAAAGAGTGGATGGa/cca	0	validated		damaging	
COL4A2		inserm.fr	GRCh37	13	111086756	111086757	+	frameshift_variant	Frame_Shift_Del	DEL	AG	-	-			CHC322T									Valid												ENST00000360467.5:c.693_694del	p.Gly232ThrfsTer7	p.G232Tfs*7	ENST00000360467	NM_001846.2	231	agAGga/agga	0	validated		damaging	
COL4A2		inserm.fr	GRCh37	13	111132621	111132625	+	frameshift_variant	Frame_Shift_Del	DEL	GCATG	-	-			CHC218T																					ENST00000360467.5:c.2642_2646del	p.Gly881GlufsTer6	p.G881Efs*6	ENST00000360467	NM_001846.2	881	gGCATG/g	0	validated		damaging	
ATG3		inserm.fr	GRCh37	3	112262944	112262953	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	CCTGTAATAC	-	-			CHC1708T									Valid												ENST00000283290.5:c.344_353del	p.Gly115GlufsTer2	p.G115Efs*2	ENST00000283290	NM_022488.4	115	gGTATTACAGGa/ga	0	validated		damaging	
C3orf17		inserm.fr	GRCh37	3	112736385	112736387	+	inframe_deletion	In_Frame_Del	DEL	GGT	-	-			BCM325T																					ENST00000314400.5:c.169_171del	p.Thr57del	p.T57del	ENST00000314400	NM_015412.3	57	ACC/-	0	validated		damaging	
SVEP1		inserm.fr	GRCh37	9	113341705	113341723	+	frameshift_variant	Frame_Shift_Del	DEL	GGCGCGGTCTCGGGGAAGA	-	-			CHC432T																					ENST00000401783.2:c.101_119del	p.Leu34ProfsTer86	p.L34Pfs*86	ENST00000401783	NM_153366.3	34	cTCTTCCCCGAGACCGCGCCc/cc	0	validated		damaging	
SLC20A1		inserm.fr	GRCh37	2	113416894	113416895	+	frameshift_variant	Frame_Shift_Del	DEL	TA	-	-			BCM423T																					ENST00000272542.3:c.1162_1163del	p.Tyr388GlnfsTer6	p.Y388Qfs*6	ENST00000272542	NM_005415.4	388	TAc/c	0	validated		damaging	
ZW10		inserm.fr	GRCh37	11	113631085	113631110	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CTGTGCCTGGTAACGAAATGGAATCA	-	-			CHC437T																					ENST00000200135.3:c.421-20_426del		p.X141_splice	ENST00000200135	NM_004724.3			0	validated		damaging	
IL37		inserm.fr	GRCh37	2	113675321	113675327	+	frameshift_variant	Frame_Shift_Del	DEL	TAAAGGA	-	-			CHC1185T																					ENST00000263326.3:c.375_381del	p.Gly127ValfsTer7	p.G127Vfs*7	ENST00000263326	NM_014439.3	125	gaTAAAGGA/ga	0	validated		damaging	
USP28		inserm.fr	GRCh37	11	113679936	113679950	+	inframe_deletion	In_Frame_Del	DEL	TTCCACTTCTGACAT	-	-			CHC097T																					ENST00000003302.4:c.1999_2013del	p.Met667_Glu671del	p.M667_E671del	ENST00000003302	NM_020886.2	667	ATGTCAGAAGTGGAA/-	0	validated		damaging	
CSMD3		inserm.fr	GRCh37	8	113812452	113812463	+	inframe_deletion	In_Frame_Del	DEL	CATTTGGCTACT	-	-			CHC794T									Valid												ENST00000297405.5:c.1900_1911del	p.Ser634_Met637del	p.S634_M637del	ENST00000297405	NM_198123.1	634	AGTAGCCAAATG/-	0	validated		damaging	
GPAM		inserm.fr	GRCh37	10	113915771	113915776	+	inframe_deletion	In_Frame_Del	DEL	AAGAAG	-	-			CHC1083T																					ENST00000348367.4:c.2157_2162del	p.Phe720_Leu721del	p.F720_L721del	ENST00000348367		719	acCTTCTTa/aca	0	validated		damaging	
GPAM		inserm.fr	GRCh37	10	113928249	113928267	+	frameshift_variant	Frame_Shift_Del	DEL	AGAATTGCTGCTGTCGAAG	-	-			CHC1083T																					ENST00000348367.4:c.910_928del	p.Leu304TrpfsTer27	p.L304Wfs*27	ENST00000348367		304	CTTCGACAGCAGCAATTCTtg/tg	0	validated		damaging	
NNMT		inserm.fr	GRCh37	11	114168723	114168726	+	frameshift_variant	Frame_Shift_Del	DEL	TATC	-	-			BCM543T																					ENST00000535401.1:c.205_208del	p.Tyr69SerfsTer29	p.Y69Sfs*29	ENST00000535401		69	TATCag/ag	0	validated		damaging	
TCF7L2		inserm.fr	GRCh37	10	114919709	114919710	+	intron_variant	Intron	DEL	GC	-	-			CHC1594T																					ENST00000543371.1:c.1319-669_1319-668del		*440*	ENST00000543371	NM_001198531.1			0	validated		damaging	
APOA1		inserm.fr	GRCh37	11	116706935	116706937	+	inframe_deletion	In_Frame_Del	DEL	CTT	-	-			CHC917T																					ENST00000236850.4:c.391_393delAAG	p.Lys131del	p.K131del	ENST00000236850	NM_000039.1	131	AAG/-	0	validated		damaging	
CEP164		inserm.fr	GRCh37	11	117241829	117241831	+	inframe_deletion	In_Frame_Del	DEL	AAG	-	-			BCB307T									Valid												ENST00000278935.3:c.799_801del	p.Lys267del	p.K267del	ENST00000278935	NM_014956.4	267	AAG/-	0	validated		damaging	
KSR2		inserm.fr	GRCh37	12	118105360	118105370	+	frameshift_variant	Frame_Shift_Del	DEL	AGCGCTCGGAC	-	-			CHC1148T																					ENST00000339824.5:c.1080_1090del	p.Ser361ProfsTer21	p.S361Pfs*21	ENST00000339824		360	ctGTCCGAGCGCTcc/ctcc	0	validated		damaging	
WDR3		inserm.fr	GRCh37	1	118475947	118475948	+	frameshift_variant	Frame_Shift_Del	DEL	GG	-	-			CHC1629T																					ENST00000349139.5:c.5_6del	p.Gly2AlafsTer11	p.G2Afs*11	ENST00000349139	NM_006784.2	2	gGG/g	0	validated		damaging	
PRSS12		inserm.fr	GRCh37	4	119203093	119203094	+	frameshift_variant,stop_lost	Frame_Shift_Del	DEL	AC	-	-			CHC1183T																					ENST00000296498.3:c.2625_2626del	p.Ter876IlefsTer69	p.*876Ifs*69	ENST00000296498	NM_003619.3	875	ctGTaa/ctaa	0	validated		damaging	
SEC24D		inserm.fr	GRCh37	4	119666218	119666219	+	splice_region_variant,intron_variant	Splice_Region	DEL	AA	-	-			BCM723T																					ENST00000280551.6:c.1708-4_1708-3del		p.X570_splice	ENST00000280551				0	validated		damaging	
HMGCS2		inserm.fr	GRCh37	1	120299908	120299920	+	frameshift_variant	Frame_Shift_Del	DEL	AGCCCCTTATATA	-	-			CHC097T																					ENST00000369406.3:c.992_1004del	p.Leu331TrpfsTer7	p.L331Wfs*7	ENST00000369406	NM_005518.3	331	tTATATAAGGGGCTg/tg	0	validated		damaging	
GOLGB1		inserm.fr	GRCh37	3	121396222	121396240	+	frameshift_variant	Frame_Shift_Del	DEL	ATCTTTATCTGAGATAGCC	-	-			CHC303T																					ENST00000393667.3:c.8931_8949del	p.Met2977IlefsTer11	p.M2977Ifs*11	ENST00000393667	NM_001256486.1	2977	atGGCTATCTCAGATAAAGAT/at	0	validated		damaging	
GOLGB1		inserm.fr	GRCh37	3	121414326	121414329	+	frameshift_variant	Frame_Shift_Del	DEL	TTTC	-	-			CHC1756T																					ENST00000393667.3:c.5041_5044del	p.Glu1681ArgfsTer2	p.E1681Rfs*2	ENST00000393667	NM_001256486.1	1681	GAAAag/ag	0	validated		damaging	
HNF1A		inserm.fr	GRCh37	12	121416650	121416661	+	inframe_deletion	In_Frame_Del	DEL	ATCCAGGCACTG	-	-			CHC465T									Valid												ENST00000257555.6:c.79_90del	p.Ile27_Leu30del	p.I27_L30del	ENST00000257555		27	ATCCAGGCACTG/-	0	validated		damaging	
HNF1A		inserm.fr	GRCh37	12	121426648	121426651	+	frameshift_variant	Frame_Shift_Del	DEL	GCGT	-	-			CHC1061T									Valid												ENST00000257555.6:c.340_343del	p.Arg114TrpfsTer40	p.R114Wfs*40	ENST00000257555		113	tgGCGT/tg	0	validated		damaging	
HNF1A		inserm.fr	GRCh37	12	121432000	121432017	+	inframe_deletion	In_Frame_Del	DEL	ACAGGCACAGGGGCTGGG	-	-			CHC465T									Valid												ENST00000257555.6:c.747_764del	p.Gln250_Gly255del	p.Q250_G255del	ENST00000257555		249	tcACAGGCACAGGGGCTGGGc/tcc	0	validated		damaging	
HNF1A		inserm.fr	GRCh37	12	121434219	121434345	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GAGTGTCCTTGCTTGTAAGGAAAACCCAACCTCATCTTTCCTTGGCAGGGAGATTCTGGAGCAGTCCCTAGGGAGGCCCTGTGGGGACCCCGGCCCCCCGGACACAGCTTGGCTTCCCCTCGTAGGT	-	-			CHC923T																					ENST00000257555.6:c.1107+3_1109del		p.X369_splice	ENST00000257555				0	not done		damaging	
HNF1A		inserm.fr	GRCh37	12	121437190	121437282	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CAGGTAAGGTCCAGGCCTGCTGGCCCTCCCTTGGCCTGTGACAGAGCCCCTCACCCCCACATCCCCCGGGCTCAGGAGGCTGCTCTGCTCCCC	-	-			CHC961T									Valid												ENST00000257555.6:c.1623+3_1625del		p.X541_splice	ENST00000257555		541		0	validated		damaging	
C12orf43		inserm.fr	GRCh37	12	121454174	121454213	+	frameshift_variant	Frame_Shift_Del	DEL	CCCCAAGCCGGCATTGCCGCCTCGCGGCACCGCTCCAGCT	-	-			CHC1152T																					ENST00000288757.3:c.65_104del	p.Glu22AlafsTer32	p.E22Afs*32	ENST00000288757	NM_022895.1	22	gAGCTGGAGCGGTGCCGCGAGGCGGCAATGCCGGCTTGGGGc/gc	0	validated		damaging	
STAG2		inserm.fr	GRCh37	X	123185072	123185086	+	splice_region_variant,intron_variant	Splice_Region	DEL	TAGTATTACTTAAGA	-	-			CHC909T																					ENST00000218089.9:c.1116+3_1116+17del		p.X372_splice	ENST00000218089	NM_001042749.1			0	validated		damaging	
AP000783.1		inserm.fr	GRCh37	11	123301728	123301730	+	inframe_deletion	In_Frame_Del	DEL	GCT	-	-			BCM489T																					ENST00000533341.1:c.230_232del	p.Leu77del	p.L77del	ENST00000533341		76	caGCTg/cag	0	validated		damaging	
NCOR2		inserm.fr	GRCh37	12	123470536	123470565	+	3_prime_UTR_variant	3'UTR	DEL	CTAGCACCATGGAGACCCCGCGCTGCACTC	-	-			CHC433T									Valid												ENST00000320201.4:c.*10_*39del		*4*	ENST00000320201	NM_020845.2			0	validated		damaging	
TMEM229A		inserm.fr	GRCh37	7	123672457	123672459	+	inframe_deletion	In_Frame_Del	DEL	GCT	-	-			CHC1597T																					ENST00000455783.1:c.599_601del	p.Gln200del	p.Q200del	ENST00000455783	NM_001136002.1	200	cAGCgg/cgg	0	validated		damaging	
RILPL1		inserm.fr	GRCh37	12	124017775	124017795	+	inframe_deletion	In_Frame_Del	DEL	GTCCAGCTCCAGGCGCAGCTC	-	-			BCM397T																					ENST00000376874.4:c.235_255del	p.Glu79_Asp85del	p.E79_D85del	ENST00000376874	NM_178314.3	79	GAGCTGCGCCTGGAGCTGGAC/-	0	validated		damaging	
DMBT1		inserm.fr	GRCh37	10	124402735	124402737	+	inframe_deletion	In_Frame_Del	DEL	TCC	-	-			CHC805T																					ENST00000368909.3:c.7063_7065del	p.Ser2355del	p.S2355del	ENST00000368909	NM_007329.2	2355	TCC/-	0	validated		damaging	
ANXA13		inserm.fr	GRCh37	8	124748094	124748103	+	frameshift_variant	Frame_Shift_Del	DEL	TTCTGAGAGG	-	-			CHC301T									Valid												ENST00000262219.6:c.30_39del	p.Leu11AlafsTer51	p.L11Afs*51	ENST00000262219	NM_001003954.1	10	acCCTCTCAGAA/ac	0	validated		damaging	
ZRANB1		inserm.fr	GRCh37	10	126631608	126631631	+	inframe_deletion	In_Frame_Del	DEL	AATAGAATTGGCAGAGACTGAAGA	-	-			CHC303T									Valid												ENST00000359653.4:c.546_569del	p.Ile183_Glu190del	p.I183_E190del	ENST00000359653	NM_017580.2	182	gcAATAGAATTGGCAGAGACTGAAGAg/gcg	0	validated		damaging	
FBN2		inserm.fr	GRCh37	5	127595243	127595245	+	inframe_deletion	In_Frame_Del	DEL	CTT	-	-			BCM275T									Valid												ENST00000508053.1:c.8641_8643del	p.Lys2881del	p.K2881del	ENST00000508053		2881	AAG/-	0	validated		damaging	
INTU		inserm.fr	GRCh37	4	128637514	128637515	+	frameshift_variant	Frame_Shift_Del	DEL	TA	-	-			CHC051T									Valid												ENST00000335251.6:c.2753_2754del	p.Tyr918CysfsTer5	p.Y918Cfs*5	ENST00000335251	NM_015693.3	918	TAt/t	0	validated		damaging	
KCNJ5		inserm.fr	GRCh37	11	128786533	128786537	+	stop_gained,frameshift_variant	Nonsense_Mutation	DEL	TGCTG	-	-			CHC917T																					ENST00000529694.1:c.1167_1171del	p.Cys389Ter	p.C389*	ENST00000529694	NM_000890.3	389	tgTGCTGag/tgag	0	validated		damaging	
C3orf37		inserm.fr	GRCh37	3	129009642	129009670	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GAGAAGGTATCATTATCAGCATTCACAAT	-	-			CHC2141T																					ENST00000383463.4:c.448_453+23del		p.X150_splice	ENST00000383463	NM_020187.2	150		0	validated		damaging	
CPA4		inserm.fr	GRCh37	7	129944340	129944347	+	frameshift_variant	Frame_Shift_Del	DEL	TTGCCGCA	-	-			CHC923T																					ENST00000222482.4:c.407_414del	p.Ile136ArgfsTer4	p.I136Rfs*4	ENST00000222482	NM_016352.3	136	aTTGCCGCA/a	0	not done		damaging	
ATP2C1		inserm.fr	GRCh37	3	130672720	130672728	+	inframe_deletion	In_Frame_Del	DEL	CTAAGGTGA	-	-			CHC736T									Valid												ENST00000393221.4:c.690_698del	p.Lys231_Thr233del	p.K231_T233del	ENST00000393221		230	tCTAAGGTGAca/tca	0	validated		damaging	
ASTE1		inserm.fr	GRCh37	3	130742872	130742873	+	frameshift_variant	Frame_Shift_Del	DEL	AA	-	-			CHC1539T																					ENST00000264992.3:c.1278_1279del	p.Ser427Ter	p.S427*	ENST00000264992	NM_014065.2	426	caTTct/cact	0	validated		damaging	
ZER1		inserm.fr	GRCh37	9	131493637	131493639	+	inframe_deletion	In_Frame_Del	DEL	CTC	-	-			BCB307T									Valid												ENST00000291900.2:c.2278_2280del	p.Glu760del	p.E760del	ENST00000291900	NM_006336.3	760	GAG/-	0	validated		damaging	
AMER3		inserm.fr	GRCh37	2	131520113	131520151	+	inframe_deletion	In_Frame_Del	DEL	CAAGAAGTGCTTTCGGAACCTATTCCACATTCGGAGAAA	-	-			CHC1746T																					ENST00000423981.1:c.473_511del	p.Lys158_Lys170del	p.K158_K170del	ENST00000423981	NM_001105194.1	156	ccCAAGAAGTGCTTTCGGAACCTATTCCACATTCGGAGAAAc/ccc	0	validated		damaging	
PLXNA4		inserm.fr	GRCh37	7	131859625	131859629	+	frameshift_variant	Frame_Shift_Del	DEL	GCTCC	-	-			BCM683T																					ENST00000359827.3:c.3925_3929del	p.Gly1309ArgfsTer8	p.G1309Rfs*8	ENST00000359827		1309	GGAGCc/c	0	validated		damaging	
ENPP1		inserm.fr	GRCh37	6	132182817	132182818	+	frameshift_variant	Frame_Shift_Del	DEL	TC	-	-			CHC097T																					ENST00000360971.2:c.998_999del	p.Phe333SerfsTer5	p.F333Sfs*5	ENST00000360971	NM_006208.2	333	tTC/t	0	validated		damaging	
GPR39		inserm.fr	GRCh37	2	133175383	133175408	+	frameshift_variant	Frame_Shift_Del	DEL	GCTGGCCGGGGGCACGCGGCCTCCGC	-	-			CHC923T																					ENST00000329321.3:c.768_793del	p.Leu257AlafsTer141	p.L257Afs*141	ENST00000329321	NM_001508.2	256	tcGCTGGCCGGGGGCACGCGGCCTCCGCag/tcag	0	not done		damaging	
TF		inserm.fr	GRCh37	3	133494322	133494323	+	frameshift_variant	Frame_Shift_Del	DEL	AT	-	-			CHC1757T																					ENST00000402696.3:c.1733_1734del	p.Tyr578Ter	p.Y578*	ENST00000402696	NM_001063.3	578	tAT/t	0	validated		damaging	
TF		inserm.fr	GRCh37	3	133496006	133496020	+	inframe_deletion	In_Frame_Del	DEL	CAGAAACACATATGA	-	-			CHC1600T																					ENST00000402696.3:c.1986_2000del	p.Asp662_Tyr666del	p.D662_Y666del	ENST00000402696	NM_001063.3	662	gaCAGAAACACATATGAa/gaa	0	validated		damaging	
ZNF140		inserm.fr	GRCh37	12	133682093	133682109	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CAGTTTCAGAGTCAAGT	-	-			CHC218T																					ENST00000355557.2:c.233-3_246del		p.X78_splice	ENST00000355557	NM_003440.2			0	validated		damaging	
TMEM71		inserm.fr	GRCh37	8	133764031	133764034	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	CTAA	-	-			CHC306T																					ENST00000356838.3:c.311_314del	p.Ser105ProfsTer24	p.S105Pfs*24	ENST00000356838	NM_144649.2	104	gTTAGt/gt	0	validated		damaging	
ECHS1		inserm.fr	GRCh37	10	135179534	135179535	+	frameshift_variant	Frame_Shift_Del	DEL	TT	-	-			CHC1743T																					ENST00000368547.3:c.684_685del	p.Lys228AsnfsTer6	p.K228Nfs*6	ENST00000368547	NM_004092.3	228	aaAAtt/aatt	0	not done		damaging	
C9orf96		inserm.fr	GRCh37	9	136251417	136251422	+	inframe_deletion	In_Frame_Del	DEL	AGCTGC	-	-			CHC2128T																					ENST00000371957.3:c.236_241del	p.Lys79_Leu80del	p.K79_L80del	ENST00000371957	NM_153710.4	79	aAGCTGCgg/agg	0	not done		damaging	
R3HDM1		inserm.fr	GRCh37	2	136399245	136399246	+	frameshift_variant	Frame_Shift_Del	DEL	TT	-	-			BCM423T																					ENST00000264160.4:c.1359_1360del	p.Ser454LeufsTer2	p.S454Lfs*2	ENST00000264160	NM_015361.2	453	ctTTcc/ctcc	0	validated		damaging	
KIF20A		inserm.fr	GRCh37	5	137521219	137521220	+	frameshift_variant	Frame_Shift_Del	DEL	GA	-	-			CHC1053T									Valid												ENST00000394894.3:c.1945_1946del	p.Glu649ArgfsTer22	p.E649Rfs*22	ENST00000394894	NM_005733.2	649	GAa/a	0	validated		damaging	
THSD7B		inserm.fr	GRCh37	2	138208443	138208464	+	frameshift_variant	Frame_Shift_Del	DEL	CTGCCCATTTGATTGCAAGTTA	-	-			CHC2216T																					ENST00000272643.3:c.2988_3009del	p.Cys997AlafsTer17	p.C997Afs*17	ENST00000272643		996	ccCTGCCCATTTGATTGCAAGTTA/cc	0	validated		damaging	
KCNT1		inserm.fr	GRCh37	9	138642857	138642873	+	frameshift_variant	Frame_Shift_Del	DEL	TGCTCGATGACCCGGCC	-	-			BCM703T																					ENST00000371757.2:c.404_420del	p.Leu135ProfsTer17	p.L135Pfs*17	ENST00000371757	NM_020822.2	135	cTGCTCGATGACCCGGCC/c	0	validated		damaging	
C9orf69		inserm.fr	GRCh37	9	139008467	139008488	+	frameshift_variant	Frame_Shift_Del	DEL	GCTTGCGCTGGAAGCGCAGCAG	-	-			CHC2103T																					ENST00000418388.1:c.259_280del	p.Leu87CysfsTer18	p.L87Cfs*18	ENST00000418388		87	CTGCTGCGCTTCCAGCGCAAGCtg/tg	0	validated		damaging	
RBP1		inserm.fr	GRCh37	3	139257759	139257764	+	inframe_deletion	In_Frame_Del	DEL	GGCTTC	-	-			CHC304T									Valid												ENST00000232219.2:c.297_302del	p.Lys100_Pro101del	p.K100_P101del	ENST00000232219	NM_002899.3	99	ctGAAGCCa/cta	0	validated		damaging	
CITED2		inserm.fr	GRCh37	6	139694331	139694346	+	frameshift_variant	Frame_Shift_Del	DEL	TTTGCCCCAGCCAGAG	-	-			CHC1545T																					ENST00000367651.2:c.736_751del	p.Leu246ThrfsTer6	p.L246Tfs*6	ENST00000367651	NM_006079.4	246	CTCTGGCTGGGGCAAAac/ac	0	validated		damaging	
HARS2		inserm.fr	GRCh37	5	140075221	140075224	+	splice_region_variant,intron_variant	Splice_Region	DEL	AAGT	-	-			CHC1191T																					ENST00000230771.3:c.525+3_525+6del		p.X175_splice	ENST00000230771	NM_012208.3			0	not done		damaging	
NDFIP1		inserm.fr	GRCh37	5	141517397	141517398	+	frameshift_variant	Frame_Shift_Del	DEL	CT	-	-			CHC1749T																					ENST00000253814.4:c.469_470del	p.Leu157AsnfsTer2	p.L157Nfs*2	ENST00000253814	NM_030571.3	157	CTa/a	0	validated		damaging	
CLEC5A		inserm.fr	GRCh37	7	141629939	141629941	+	inframe_deletion	In_Frame_Del	DEL	TGA	-	-			CHC1616T																					ENST00000546910.1:c.530_532del	p.Ile177del	p.I177del	ENST00000546910	NM_013252.2	177	aTCAgc/agc	0	validated		damaging	
RP11-10J21.3		inserm.fr	GRCh37	8	142264770	142264774	+	frameshift_variant	Frame_Shift_Del	DEL	GGCCA	-	-			CHC892T																					ENST00000518520.1:c.47_51del	p.Arg16ProfsTer52	p.R16Pfs*52	ENST00000518520		16	cGGCCA/c	0	validated		damaging	
PLS1		inserm.fr	GRCh37	3	142408467	142408498	+	frameshift_variant	Frame_Shift_Del	DEL	ATGACCTGAAGCGTGCTGGACTCATGCTTCAA	-	-			BCB111T									Valid												ENST00000337777.3:c.989_1020del	p.Asn330ArgfsTer4	p.N330Rfs*4	ENST00000337777	NM_002670.2	330	aATGACCTGAAGCGTGCTGGACTCATGCTTCAA/a	0	validated		damaging	
KEL		inserm.fr	GRCh37	7	142658015	142658024	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	CCAGTATTCT	-	-			CHC794T									Valid												ENST00000355265.2:c.391_400del	p.Ile132SerfsTer54	p.I132Sfs*54	ENST00000355265	NM_000420.2	131	AGAATACTGGag/ag	0	validated		damaging	
SLURP1		inserm.fr	GRCh37	8	143822598	143822615	+	inframe_deletion	In_Frame_Del	DEL	AAGATCAGGTGGGCGGCC	-	-			BCM735T																					ENST00000246515.1:c.258_275del	p.Ala87_Phe92del	p.A87_F92del	ENST00000246515	NM_020427.2	86	ggGGCCGCCCACCTGATCTTc/ggc	0	validated		damaging	
USP38		inserm.fr	GRCh37	4	144107053	144107055	+	inframe_deletion	In_Frame_Del	DEL	TCT	-	-			CHC097T																					ENST00000307017.4:c.450_452del	p.Leu151del	p.L151del	ENST00000307017	NM_032557.5	150	ctTCTg/ctg	0	validated		damaging	
SCRIB		inserm.fr	GRCh37	8	144897491	144897507	+	frameshift_variant	Frame_Shift_Del	DEL	CCACCGACTCCACGTGC	-	-			CHC898T																					ENST00000356994.2:c.36_52del	p.His13GlnfsTer78	p.H13Qfs*78	ENST00000356994	NM_182706.4	12	cgGCACGTGGAGTCGGTGGac/cgac	0	validated		damaging	
GRXCR2		inserm.fr	GRCh37	5	145239349	145239362	+	stop_gained,frameshift_variant	Nonsense_Mutation	DEL	ACCTCAGGGCCCGA	-	-			BCB307T									Valid												ENST00000377976.1:c.681_694del	p.Tyr227Ter	p.Y227*	ENST00000377976	NM_001080516.1	227	taTCGGGCCCTGAGGTgc/tagc	0	validated		damaging	
TXNIP		inserm.fr	GRCh37	1	145440063	145440067	+	frameshift_variant	Frame_Shift_Del	DEL	AGAAA	-	-			CHC2141T																					ENST00000369317.4:c.497_501del	p.Lys166SerfsTer8	p.K166Sfs*8	ENST00000369317	NM_006472.4	166	aAGAAA/a	0	validated		damaging	
MFSD3		inserm.fr	GRCh37	8	145735777	145735779	+	inframe_deletion	In_Frame_Del	DEL	CCT	-	-			CHC1205T																					ENST00000301327.4:c.717_719del	p.Leu241del	p.L241del	ENST00000301327	NM_138431.1	239	ctCCTg/ctg	0	validated		damaging	
ZNF7		inserm.fr	GRCh37	8	146067559	146067588	+	inframe_deletion	In_Frame_Del	DEL	ACACTGGGGAGAGGCCCTACCCTTGCAAGG	-	-			CHC303T									Valid												ENST00000528372.1:c.1068_1097del	p.His356_Glu366delinsGln	p.H356_E366delinsQ	ENST00000528372		356	cACACTGGGGAGAGGCCCTACCCTTGCAAGGag/cag	0	validated		damaging	
ACVR2A		inserm.fr	GRCh37	2	148602771	148602772	+	frameshift_variant	Frame_Shift_Del	DEL	CT	-	-			CHC902T																					ENST00000241416.7:c.50_51del	p.Ser17PhefsTer7	p.S17Ffs*7	ENST00000241416	NM_001616.4	17	tCT/t	0	not done		damaging	
ACVR2A		inserm.fr	GRCh37	2	148683660	148683677	+	inframe_deletion	In_Frame_Del	DEL	AAGACATGCAGGAAGTTG	-	-			BCB167T																					ENST00000241416.7:c.1277_1294del	p.Glu426_Val431del	p.E426_V431del	ENST00000241416	NM_001616.4	426	gAAGACATGCAGGAAGTTGtt/gtt	0	validated		damaging	
CSNK1A1		inserm.fr	GRCh37	5	148889443	148889447	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	TTACA	-	-			BCM791T									Valid												ENST00000515768.1:c.829_833del	p.Cys277GlyfsTer19	p.C277Gfs*19	ENST00000515768		277	TGTAAg/g	0	validated		damaging	
SSPO		inserm.fr	GRCh37	7	149474399	149474404	+	non_coding_transcript_exon_variant	RNA	DEL	GGTGGG	-	-			BCM695T									Valid												ENST00000378016.2:n.443_448del		*148*	ENST00000378016				0	validated		damaging	
EIF2A		inserm.fr	GRCh37	3	150290023	150290051	+	frameshift_variant	Frame_Shift_Del	DEL	GCTTGGTGCCCGGATGGTGAGCATATTTT	-	-			BCM529T																					ENST00000460851.1:c.1090_1118del	p.Ala364AsnfsTer11	p.A364Nfs*11	ENST00000460851		364	GCTTGGTGCCCGGATGGTGAGCATATTTTa/a	0	validated		damaging	
SIAH2		inserm.fr	GRCh37	3	150480434	150480456	+	frameshift_variant	Frame_Shift_Del	DEL	GACACCGGGCCGGCCCCGCCGCC	-	-			CHC1201T																					ENST00000312960.3:c.181_203del	p.Gly61ProfsTer17	p.G61Pfs*17	ENST00000312960	NM_005067.5	61	GGCGGCGGGGCCGGCCCGGTGTCc/c	0	validated		damaging	
ECM1		inserm.fr	GRCh37	1	150480718	150480737	+	frameshift_variant	Frame_Shift_Del	DEL	GACCTATTTGGCTGTTGCTT	-	-			CHC1592T																					ENST00000369049.4:c.33_52del	p.Leu11PhefsTer5	p.L11Ffs*5	ENST00000369049	NM_001202858.1	11	ttGACCTATTTGGCTGTTGCTTct/ttct	0	not done		damaging	
TMEM176B		inserm.fr	GRCh37	7	150493523	150493525	+	inframe_deletion	In_Frame_Del	DEL	CTT	-	-			CHC793T									Valid												ENST00000447204.2:c.133_135del	p.Lys45del	p.K45del	ENST00000447204	NM_014020.3	45	AAG/-	0	validated		damaging	
C1orf138		inserm.fr	GRCh37	1	150533727	150533776	+	frameshift_variant	Frame_Shift_Del	DEL	GCTCTTTTTTCCTGTTCCCTTTCTCTAGCCCTGCCTTCTGTCTCCCTTTC	-	-			CHC1137T																					ENST00000369035.2:c.171_220del	p.Gln57HisfsTer55	p.Q57Hfs*55	ENST00000369035		57	caGAAAGGGAGACAGAAGGCAGGGCTAGAGAAAGGGAACAGGAAAAAAGAGCtt/catt	0	validated		damaging	
SLC36A1		inserm.fr	GRCh37	5	150843186	150843207	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	GAAAAATGCAGGCATCGTGGTA	-	-			CHC303T									Valid												ENST00000243389.3:c.216_234+3del		p.X72_splice	ENST00000243389	NM_078483.2	72		0	validated		damaging	
SETDB1		inserm.fr	GRCh37	1	150921758	150921761	+	splice_region_variant,intron_variant	Splice_Region	DEL	AGTG	-	-			CHC1209T																					ENST00000271640.5:c.1424+4_1424+7del		p.X475_splice	ENST00000271640	NM_001145415.1			0	validated		damaging	
LRBA		inserm.fr	GRCh37	4	151271213	151271225	+	frameshift_variant	Frame_Shift_Del	DEL	ATTGAGGGCTCGG	-	-			CHC1209T																					ENST00000357115.3:c.7314_7326del	p.Arg2439CysfsTer5	p.R2439Cfs*5	ENST00000357115	NM_006726.4	2438	gtCCGAGCCCTCAAT/gt	0	validated		damaging	
POGZ		inserm.fr	GRCh37	1	151396685	151396687	+	inframe_deletion	In_Frame_Del	DEL	TGC	-	-			CHC051T									Valid												ENST00000271715.2:c.1261_1263del	p.Ala421del	p.A421del	ENST00000271715	NM_015100.3	421	GCA/-	0	validated		damaging	
RAP2B		inserm.fr	GRCh37	3	152881034	152881056	+	stop_lost,3_prime_UTR_variant	Nonstop_Mutation	DEL	AGGCGGCCACCGCGCGCCGGCCG	-	-			CHC923T																					ENST00000323534.2:c.552_*22del		*184*	ENST00000323534	NM_002886.3	184		0	not done		damaging	
SRPK3		inserm.fr	GRCh37	X	153050267	153050279	+	frameshift_variant	Frame_Shift_Del	DEL	CGCCGAATACGGC	-	-			CHC303T																					ENST00000370101.3:c.1312_1324del	p.Ala438ProfsTer40	p.A438Pfs*40	ENST00000370101	NM_001170760.1	437	ggCGCCGAATACGGC/gg	0	validated		damaging	
ARHGEF26		inserm.fr	GRCh37	3	153840630	153840646	+	frameshift_variant	Frame_Shift_Del	DEL	GGGCCTAGGAGGACCCC	-	-			CHC1148T																					ENST00000356448.4:c.849_865del	p.Glu283AspfsTer9	p.E283Dfs*9	ENST00000356448	NM_001251962.1	283	gaGGGCCTAGGAGGACCCCtg/gatg	0	validated		damaging	
HTR5A		inserm.fr	GRCh37	7	154863226	154863232	+	frameshift_variant	Frame_Shift_Del	DEL	TAGGCGC	-	-			CHC1732T																					ENST00000287907.2:c.617_623del	p.Val206AlafsTer41	p.V206Afs*41	ENST00000287907	NM_024012.3	206	gTAGGCGCc/gc	0	validated		damaging	
EFNA4		inserm.fr	GRCh37	1	155041601	155041602	+	frameshift_variant	Frame_Shift_Del	DEL	AG	-	-			CHC469T									Valid												ENST00000427683.2:c.576_577del	p.Gly193ValfsTer2	p.G193Vfs*2	ENST00000427683		192	agAGgg/aggg	0	validated		damaging	
FGB		inserm.fr	GRCh37	4	155489609	155489615	+	frameshift_variant	Frame_Shift_Del	DEL	GTATAGA	-	-			CHC304T									Valid												ENST00000302068.4:c.800_806del	p.Arg267ThrfsTer4	p.R267Tfs*4	ENST00000302068	NM_005141.4	265	ccGTATAGA/cc	0	validated		damaging	
FGA		inserm.fr	GRCh37	4	155505530	155505532	+	inframe_deletion	In_Frame_Del	DEL	TGT	-	-			CHC1732T																					ENST00000302053.3:c.2345_2347del	p.Asn782del	p.N782del	ENST00000302053	NM_000508.3	782	aACAtg/atg	0	validated		damaging	
FGA		inserm.fr	GRCh37	4	155505794	155505795	+	frameshift_variant	Frame_Shift_Del	DEL	CT	-	-			CHC320T									Valid												ENST00000302053.3:c.2082_2083del	p.Gly695PhefsTer6	p.G695Ffs*6	ENST00000302053	NM_000508.3	694	agAGgt/aggt	0	validated		damaging	
FGA		inserm.fr	GRCh37	4	155505897	155505898	+	frameshift_variant	Frame_Shift_Del	DEL	AG	-	-			CHC1747T																					ENST00000302053.3:c.1979_1980del	p.Ser660CysfsTer26	p.S660Cfs*26	ENST00000302053	NM_000508.3	660	tCT/t	0	validated		damaging	
FGA		inserm.fr	GRCh37	4	155507688	155507702	+	inframe_deletion	In_Frame_Del	DEL	CCAGAGTTCCAGCTT	-	-			CHC1715T																					ENST00000302053.3:c.879_893del	p.Trp295_Ser299del	p.W295_S299del	ENST00000302053	NM_000508.3	293	ggAAGCTGGAACTCTGGg/ggg	0	validated		damaging	
FGG		inserm.fr	GRCh37	4	155529697	155529698	+	frameshift_variant	Frame_Shift_Del	DEL	TC	-	-			BCM723T																					ENST00000336098.3:c.771_772del	p.Lys258AspfsTer38	p.K258Dfs*38	ENST00000336098	NM_021870.2	257	gaGAag/gaag	0	validated		damaging	
YY1AP1		inserm.fr	GRCh37	1	155630619	155630645	+	inframe_deletion	In_Frame_Del	DEL	ATCTCAGTGGTTCCAGTCATATTTCCT	-	-			CHC2048T																					ENST00000368339.5:c.1470_1496del	p.Gly491_Ile499del	p.G491_I499del	ENST00000368339	NM_001198903.1	490	gtAGGAAATATGACTGGAACCACTGAGATc/gtc	0	validated		damaging	
ADRA1B		inserm.fr	GRCh37	5	159399200	159399213	+	frameshift_variant	Frame_Shift_Del	DEL	CCCTCGGCCTCGCC	-	-			CHC1749T																					ENST00000306675.3:c.1264_1277del	p.Pro422GlufsTer34	p.P422Efs*34	ENST00000306675	NM_000679.3	422	CCCTCGGCCTCGCCg/g	0	validated		damaging	
KCNJ9		inserm.fr	GRCh37	1	160054627	160054634	+	frameshift_variant	Frame_Shift_Del	DEL	CTTCGAGA	-	-			CHC2103T									Valid												ENST00000368088.3:c.807_814del	p.Phe270ArgfsTer55	p.F270Rfs*55	ENST00000368088	NM_004983.2	269	gaCTTCGAGAtc/gatc	0	validated		damaging	
SLC22A1		inserm.fr	GRCh37	6	160560908	160560915	+	intron_variant	Intron	DEL	GTAAGTTG	-	-			CHC2128T																					ENST00000366963.4:c.1276+9_1276+16del		*426*	ENST00000366963	NM_153187.1			0	not done		damaging	
TOMM40L		inserm.fr	GRCh37	1	161197758	161197762	+	frameshift_variant	Frame_Shift_Del	DEL	CCTGA	-	-			CHC1052T									Valid												ENST00000367988.3:c.468_472del	p.Leu157TrpfsTer69	p.L157Wfs*69	ENST00000367988	NM_032174.4	155	CCTGAc/c	0	validated		damaging	
COBLL1		inserm.fr	GRCh37	2	165584689	165584695	+	frameshift_variant	Frame_Shift_Del	DEL	TCACTAC	-	-			CHC1041T									Valid												ENST00000342193.4:c.445_451del	p.Val149LeufsTer10	p.V149Lfs*10	ENST00000342193	NM_014900.4	149	GTAGTGAtt/tt	0	validated		damaging	
POGK		inserm.fr	GRCh37	1	166819404	166819418	+	inframe_deletion	In_Frame_Del	DEL	AACCTGGCGCTGAGC	-	-			CHC2103T																					ENST00000367875.1:c.1588_1602del	p.Asn530_Ser534del	p.N530_S534del	ENST00000367875		530	AACCTGGCGCTGAGC/-	0	validated		damaging	
POU2F1		inserm.fr	GRCh37	1	167358829	167358834	+	inframe_deletion	In_Frame_Del	DEL	CAACCC	-	-			CHC320T									Valid												ENST00000367866.2:c.822_827del	p.Pro275_Thr276del	p.P275_T276del	ENST00000367866	NM_002697.3	273	gCAACCCca/gca	0	validated		damaging	
DDX60		inserm.fr	GRCh37	4	169196583	169196620	+	frameshift_variant	Frame_Shift_Del	DEL	TTGGAACCGAGCTGGCCCAATGCCAACTGAATATTTAT	-	-			CHC884T									Valid												ENST00000393743.3:c.2180_2217del	p.Asn727ThrfsTer12	p.N727Tfs*12	ENST00000393743	NM_017631.5	727	aATAAATATTCAGTTGGCATTGGGCCAGCTCGGTTCCAA/a	0	validated		damaging	
KCNIP1		inserm.fr	GRCh37	5	169931589	169931625	+	frameshift_variant	Frame_Shift_Del	DEL	ATGGGCACCTTCTCATCTCTGCAAACCAAACAAAGGC	-	-			CHC2127T									Valid												ENST00000411494.1:c.13_49del	p.Met5AspfsTer24	p.M5Dfs*24	ENST00000411494		5	ATGGGCACCTTCTCATCTCTGCAAACCAAACAAAGGCga/ga	0	validated		damaging	
SP3		inserm.fr	GRCh37	2	174819716	174819720	+	frameshift_variant	Frame_Shift_Del	DEL	TGAAG	-	-			BCB231T																					ENST00000310015.6:c.1520_1524del	p.Thr507AsnfsTer4	p.T507Nfs*4	ENST00000310015	NM_001172712.1	507	aCTTCA/a	0	validated		damaging	
TBL1XR1		inserm.fr	GRCh37	3	176755887	176755899	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	TTTAAAGTCATGT	-	-			CHC2103T									Valid												ENST00000430069.1:c.1109_1121del	p.Asp370GlyfsTer5	p.D370Gfs*5	ENST00000430069		370	gACATGACTTTAAAg/gg	0	validated		damaging	
COL23A1		inserm.fr	GRCh37	5	177683881	177683887	+	frameshift_variant	Frame_Shift_Del	DEL	CACCGTC	-	-			BCM783T																					ENST00000390654.3:c.817_823del	p.Asp273ProfsTer34	p.D273Pfs*34	ENST00000390654	NM_173465.3	273	GACGGTGcc/cc	0	validated		damaging	
NFE2L2		inserm.fr	GRCh37	2	178098797	178098805	+	inframe_deletion	In_Frame_Del	DEL	AATTCACCT	-	-			CHC059T									Valid												ENST00000397062.3:c.240_248del	p.Gly81_Phe83del	p.G81_F83del	ENST00000397062	NM_006164.4	80	acAGGTGAATTt/act	0	validated		damaging	
NFE2L2		inserm.fr	GRCh37	2	178098951	178098959	+	inframe_deletion	In_Frame_Del	DEL	CTCCAAGAT	-	-			CHC510T									Valid												ENST00000397062.3:c.86_94del	p.Asp29_Gly31del	p.D29_G31del	ENST00000397062	NM_006164.4	29	gATCTTGGAGta/gta	0	validated		damaging	
RUFY1		inserm.fr	GRCh37	5	179023592	179023600	+	splice_acceptor_variant,non_coding_transcript_exon_variant,intron_variant	Splice_Site	DEL	GGGCTGAGG	-	-			CHC1744T																					ENST00000500262.1:n.1277-3_1282del		p.X426_splice	ENST00000500262				0	validated		damaging	
TTN		inserm.fr	GRCh37	2	179532395	179532410	+	frameshift_variant	Frame_Shift_Del	DEL	GTTGAGTCACAAGTAC	-	-			CHC1745T																					ENST00000589042.1:c.35584_35599del	p.Val11862LeufsTer8	p.V11862Lfs*8	ENST00000589042	NM_001267550.1	11862	GTACTTGTGACTCAACct/ct	0	validated		damaging	
TOR1AIP2		inserm.fr	GRCh37	1	179815382	179815389	+	frameshift_variant	Frame_Shift_Del	DEL	CCCTTGGG	-	-			CHC1201T																					ENST00000367612.3:c.1230_1237del	p.Pro411AsnfsTer17	p.P411Nfs*17	ENST00000367612	NM_145034.4	410	ggCCCAAGGGaa/ggaa	0	validated		damaging	
CEP350		inserm.fr	GRCh37	1	180023624	180023639	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	TGCAGCAAGAAAAGGT	-	-			CHC1744T																					ENST00000367607.3:c.5249_5262+2del		p.X1750_splice	ENST00000367607	NM_014810.4	1750		0	validated		damaging	
GLUL		inserm.fr	GRCh37	1	182353660	182353662	+	inframe_deletion	In_Frame_Del	DEL	CTT	-	-			BCM423T									Valid												ENST00000311223.5:c.1000_1002del	p.Lys334del	p.K334del	ENST00000311223	NM_002065.5	334	AAG/-	0	validated		damaging	
MCF2L2		inserm.fr	GRCh37	3	183017832	183017836	+	frameshift_variant	Frame_Shift_Del	DEL	AATGT	-	-			CHC1700T																					ENST00000328913.3:c.1262_1266del	p.Asp421ValfsTer9	p.D421Vfs*9	ENST00000328913	NM_015078.2	421	gACATT/g	0	validated		damaging	
LAMC2		inserm.fr	GRCh37	1	183207526	183207552	+	inframe_deletion	In_Frame_Del	DEL	GAAGTTGAGAGCATCCTTAAAAACCTC	-	-			CHC059T									Valid												ENST00000264144.4:c.2839_2865del	p.Glu947_Leu955del	p.E947_L955del	ENST00000264144	NM_005562.2	947	GAAGTTGAGAGCATCCTTAAAAACCTC/-	0	validated		damaging	
NCKAP1		inserm.fr	GRCh37	2	183888570	183888586	+	frameshift_variant	Frame_Shift_Del	DEL	GACTATGAATTTCACAG	-	-			CHC1545T																					ENST00000360982.2:c.185_201del	p.Ala62GlufsTer43	p.A62Efs*43	ENST00000360982	NM_013436.4	62	gCTGTGAAATTCATAGTC/g	0	validated		damaging	
VWA5B2		inserm.fr	GRCh37	3	183956101	183956114	+	frameshift_variant	Frame_Shift_Del	DEL	CTGGCTGGCAGAGC	-	-			CHC1191T																					ENST00000426955.2:c.1730_1743del	p.Pro577LeufsTer21	p.P577Lfs*21	ENST00000426955	NM_138345.1	577	cCTGGCTGGCAGAGC/c	0	not done		damaging	
IRF2		inserm.fr	GRCh37	4	185339815	185339818	+	frameshift_variant	Frame_Shift_Del	DEL	CCTT	-	-			CHC1556T																					ENST00000393593.3:c.232_235del	p.Lys78ArgfsTer7	p.K78Rfs*7	ENST00000393593	NM_002199.3	78	AAGGcg/cg	0	not done		damaging	
ACSL1		inserm.fr	GRCh37	4	185698081	185698082	+	frameshift_variant	Frame_Shift_Del	DEL	AT	-	-			CHC1097T																					ENST00000515030.1:c.533_534del	p.Tyr178Ter	p.Y178*	ENST00000515030	NM_001286708.1	178	tAT/t	0	validated		damaging	
ZNF804A		inserm.fr	GRCh37	2	185801897	185801907	+	frameshift_variant	Frame_Shift_Del	DEL	AAAAGTAGAAG	-	-			CHC155T									Valid												ENST00000302277.6:c.1777_1787del	p.Ser593GlufsTer29	p.S593Efs*29	ENST00000302277	NM_194250.1	592	AAAAGTAGAAGa/a	0	validated		damaging	
TRIML2		inserm.fr	GRCh37	4	189012882	189012887	+	inframe_deletion	In_Frame_Del	DEL	ATGCCC	-	-			CHC1712T																					ENST00000512729.1:c.804_809del	p.Gly269_Ile270del	p.G269_I270del	ENST00000512729	NM_173553.1	268	gtGGGCATa/gta	0	not done		damaging	
HIBCH		inserm.fr	GRCh37	2	191073617	191073634	+	inframe_deletion	In_Frame_Del	DEL	CCTTCATGAAAGTCATGA	-	-			CHC912T									Valid												ENST00000359678.5:c.1017_1034del	p.His340_Gly345del	p.H340_G345del	ENST00000359678	NM_198047.2	339	ggTCATGACTTTCATGAAGGc/ggc	0	validated		damaging	
STK17B		inserm.fr	GRCh37	2	197002176	197002177	+	frameshift_variant	Frame_Shift_Del	DEL	AG	-	-			BCM439T																					ENST00000263955.4:c.1113_1114del	p.Cys372LeufsTer11	p.C372Lfs*11	ENST00000263955	NM_004226.3	371	ctCTgt/ctgt	0	validated		damaging	
ASPM		inserm.fr	GRCh37	1	197073328	197073334	+	frameshift_variant	Frame_Shift_Del	DEL	ATTTTAT	-	-			CHC302T									Valid												ENST00000367409.4:c.5047_5053del	p.Ile1683CysfsTer7	p.I1683Cfs*7	ENST00000367409	NM_018136.4	1683	ATAAAATtg/tg	0	validated		damaging	
ASPM		inserm.fr	GRCh37	1	197073319	197073347	+	frameshift_variant	Frame_Shift_Del	DEL	TTGACTGCAATTTTATTGTAGCATTTTTT	-	-			CHC884T									Valid												ENST00000367409.4:c.5034_5062del	p.Lys1679CysfsTer2	p.K1679Cfs*2	ENST00000367409	NM_018136.4	1678	ctAAAAAATGCTACAATAAAATTGCAGTCAAct/ctct	0	validated		damaging	
LRCH3		inserm.fr	GRCh37	3	197598263	197598296	+	frameshift_variant	Frame_Shift_Del	DEL	TTCTTTGCCATTTGGCCAATCATGTGCGACCTCG	-	-			CHC1568T																					ENST00000334859.4:c.2060_2093del	p.Val687AspfsTer13	p.V687Dfs*13	ENST00000334859	NM_032773.2	687	gTTCTTTGCCATTTGGCCAATCATGTGCGACCTCGa/ga	0	validated		damaging	
SATB2		inserm.fr	GRCh37	2	200246434	200246441	+	frameshift_variant	Frame_Shift_Del	DEL	CAACGTCA	-	-			CHC1715T																					ENST00000417098.1:c.449_456del	p.Val150GlufsTer56	p.V150Efs*56	ENST00000417098	NM_001172509.1	150	gTGACGTTG/g	0	validated		damaging	
KIF21B		inserm.fr	GRCh37	1	200974540	200974554	+	inframe_deletion	In_Frame_Del	DEL	ACAGGGCCCCCTGCT	-	-			CHC2321T																					ENST00000422435.2:c.614_628del	p.Lys205_Ser210delinsThr	p.K205_S210delinsT	ENST00000422435	NM_001252100.1	205	aAGCAGGGGGCCCTGTcc/acc	0	validated		damaging	
SGOL2		inserm.fr	GRCh37	2	201436382	201436405	+	inframe_deletion	In_Frame_Del	DEL	TCCTGGATGGCAAAAGGGGTGCAG	-	-			CHC1626T																					ENST00000357799.4:c.1313_1336del	p.Val438_Ala445del	p.V438_A445del	ENST00000357799	NM_152524.5	438	gTCCTGGATGGCAAAAGGGGTGCAGaa/gaa	0	validated		damaging	
MPP4		inserm.fr	GRCh37	2	202545754	202545755	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	AC	-	-			CHC197T									Valid												ENST00000409474.3:c.735_736del	p.Tyr246ArgfsTer6	p.Y246Rfs*6	ENST00000409474	NM_033066.2	245	gtGTac/gtac	0	validated		damaging	
MDM4		inserm.fr	GRCh37	1	204518287	204518289	+	inframe_deletion	In_Frame_Del	DEL	AGA	-	-			CHC2351T																					ENST00000367182.3:c.950_952del	p.Lys317del	p.K317del	ENST00000367182	NM_001278516.1	317	aAGAgg/agg	0	not done		damaging	
DSTYK		inserm.fr	GRCh37	1	205119904	205119919	+	frameshift_variant	Frame_Shift_Del	DEL	CACGGTTCTGCTTATC	-	-			CHC303T									Valid												ENST00000367162.3:c.2356_2371del	p.Asp786ProfsTer6	p.D786Pfs*6	ENST00000367162	NM_015375.2	786	GATAAGCAGAACCGTGcc/cc	0	validated		damaging	
SLC30A1		inserm.fr	GRCh37	1	211749293	211749294	+	frameshift_variant	Frame_Shift_Del	DEL	AA	-	-			CHC302T									Valid												ENST00000367001.4:c.960_961del	p.Val322CysfsTer15	p.V322Cfs*15	ENST00000367001	NM_021194.2	320	ctTTgt/ctgt	0	validated		damaging	
NEK2		inserm.fr	GRCh37	1	211840469	211840477	+	inframe_deletion	In_Frame_Del	DEL	GGAACTTCC	-	-			CHC796T									Valid												ENST00000366999.4:c.1082_1090del	p.Arg361_Phe363del	p.R361_F363del	ENST00000366999	NM_002497.3	361	cGGAAGTTCCtg/ctg	0	validated		damaging	
PTPN14		inserm.fr	GRCh37	1	214557049	214557051	+	inframe_deletion	In_Frame_Del	DEL	CCT	-	-			CHC306T									Valid												ENST00000366956.5:c.2147_2149delAGG	p.Glu716del	p.E716del	ENST00000366956	NM_005401.4	716	gAGGct/gct	0	validated		damaging	
USH2A		inserm.fr	GRCh37	1	215844405	215844407	+	inframe_deletion	In_Frame_Del	DEL	GGC	-	-			BCM269T									Valid												ENST00000307340.3:c.14040_14042del	p.Gln4680_Pro4681delinsHis	p.Q4680_P4681delinsH	ENST00000307340	NM_206933.2	4680	caGCCt/cat	0	validated		damaging	
SLC30A10		inserm.fr	GRCh37	1	220100384	220100388	+	frameshift_variant	Frame_Shift_Del	DEL	GCTTC	-	-			CHC303T									Valid												ENST00000366926.3:c.700_704del	p.Glu234SerfsTer35	p.E234Sfs*35	ENST00000366926	NM_018713.2	234	GAAGCt/t	0	validated		damaging	
STK11IP		inserm.fr	GRCh37	2	220479905	220479912	+	frameshift_variant	Frame_Shift_Del	DEL	TCTCCTCC	-	-			CHC2115T																					ENST00000295641.10:c.2992_2999del	p.Pro999SerfsTer7	p.P999Sfs*7	ENST00000295641	NM_052902.2	998	TCTCCTCCa/a	0	validated		damaging	
SLC4A3		inserm.fr	GRCh37	2	220494074	220494082	+	inframe_deletion	In_Frame_Del	DEL	GGAAGAGGA	-	-			CHC1545T																					ENST00000373762.3:c.426_434del	p.Glu143_Glu145del	p.E143_E145del	ENST00000373762	NM_005070.3	142	gaGGAAGAGGAa/gaa	0	validated		damaging	
ACSL3		inserm.fr	GRCh37	2	223773562	223773568	+	frameshift_variant	Frame_Shift_Del	DEL	TTTTATA	-	-			BCM723T																					ENST00000357430.3:c.72_78del	p.Phe25IlefsTer3	p.F25Ifs*3	ENST00000357430	NM_004457.3	24	taTTTTATA/ta	0	validated		damaging	
DOCK10		inserm.fr	GRCh37	2	225751222	225751233	+	inframe_deletion	In_Frame_Del	DEL	GGAAGCTTCTCT	-	-			CHC1028T																					ENST00000258390.7:c.432_443del	p.Glu145_Pro148del	p.E145_P148del	ENST00000258390	NM_014689.2	144	ccAGAGAAGCTTCCt/cct	0	validated		damaging	
C1orf35		inserm.fr	GRCh37	1	228289792	228289802	+	frameshift_variant	Frame_Shift_Del	DEL	CTGATCCTCCG	-	-			CHC1185T																					ENST00000272139.4:c.512_522del	p.Ala171AspfsTer6	p.A171Dfs*6	ENST00000272139	NM_024319.2	171	gCGGAGGATCAG/g	0	validated		damaging	
GJC2		inserm.fr	GRCh37	1	228346181	228346182	+	frameshift_variant	Frame_Shift_Del	DEL	CG	-	-			BCM739T																					ENST00000366714.2:c.722_723del	p.Pro241LeufsTer22	p.P241Lfs*22	ENST00000366714	NM_020435.3	241	cCG/c	0	validated		damaging	
TRIM67		inserm.fr	GRCh37	1	231342445	231342452	+	frameshift_variant	Frame_Shift_Del	DEL	CTTCAACA	-	-			CHC2034T																					ENST00000366653.5:c.1728_1735del	p.His576GlnfsTer20	p.H576Qfs*20	ENST00000366653		576	caCTTCAACAgc/cagc	0	validated		damaging	
INPP5D		inserm.fr	GRCh37	2	233995340	233995362	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TCTGCAAGGAGCTCTATGGGTAA	-	-			CHC2098T																					ENST00000359570.5:c.648_665+5del		p.X216_splice	ENST00000359570		216		0	validated		damaging	
HEATR1		inserm.fr	GRCh37	1	236721733	236721736	+	frameshift_variant	Frame_Shift_Del	DEL	CTGT	-	-			BCB301T																					ENST00000366582.3:c.5005_5008del	p.Thr1669HisfsTer5	p.T1669Hfs*5	ENST00000366582	NM_018072.5	1669	ACAGca/ca	0	validated		damaging	
FMN2		inserm.fr	GRCh37	1	240601472	240601488	+	frameshift_variant	Frame_Shift_Del	DEL	CTTCTGGAAGAAAGAGA	-	-			CHC2113T																					ENST00000319653.9:c.5022_5038del	p.Asp1674GlufsTer17	p.D1674Efs*17	ENST00000319653	NM_020066.4	1674	gaCTTCTGGAAGAAAGAGAac/gaac	0	validated		damaging	
C2orf54		inserm.fr	GRCh37	2	241835344	241835359	+	frameshift_variant	Frame_Shift_Del	DEL	GCCTGCAGGTAGTGGT	-	-			CHC304T									Valid												ENST00000388934.4:c.56_71del	p.His19ProfsTer70	p.H19Pfs*70	ENST00000388934	NM_001085437.1	19	cACCACTACCTGCAGGCc/cc	0	validated		damaging	
ANO7		inserm.fr	GRCh37	2	242163551	242163572	+	stop_lost,3_prime_UTR_variant	Nonstop_Mutation	DEL	AGCCAGCTGCAGCAGTGACGCC	-	-			CHC2128T																					ENST00000274979.8:c.2785_*4del		*929*	ENST00000274979	NM_001001891.3	929		0	not done		damaging	
BOK		inserm.fr	GRCh37	2	242499062	242499076	+	inframe_deletion	In_Frame_Del	DEL	GTGCCGCGCCGGTCC	-	-			CHC1746T																					ENST00000318407.3:c.164_178del	p.Arg55_Val59del	p.R55_V59del	ENST00000318407	NM_032515.4	55	cGTGCCGCGCCGGTCCcg/ccg	0	validated		damaging	
ZBTB18		inserm.fr	GRCh37	1	244217402	244217411	+	frameshift_variant	Frame_Shift_Del	DEL	CTGCCAGTTA	-	-			CHC793T									Valid												ENST00000358704.4:c.326_335del	p.Ala109ValfsTer15	p.A109Vfs*15	ENST00000358704	NM_205768.2	109	gCTGCCAGTTAt/gt	0	validated		damaging	
ADH1A		inserm.fr	GRCh37	4	100203577	100203577	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC902T																					ENST00000209668.2:c.754del	p.Gln252ArgfsTer4	p.Q252Rfs*4	ENST00000209668	NM_000667.3	252	Cag/ag	0	not done		damaging	
ZAN		inserm.fr	GRCh37	7	100349662	100349662	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1600T																					ENST00000546292.1:c.1938del	p.Lys646AsnfsTer355	p.K646Nfs*355	ENST00000546292	NM_173059.1	645	gAa/ga	0	validated		damaging	
ZAN		inserm.fr	GRCh37	7	100385675	100385675	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC889T																					ENST00000546292.1:c.7143del	p.Arg2382GlyfsTer9	p.R2382Gfs*9	ENST00000546292	NM_173059.1	2381	Ccc/cc	0	validated		damaging	
BTK		inserm.fr	GRCh37	X	100629549	100629549	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC2215T																					ENST00000308731.7:c.215del	p.Asn72IlefsTer49	p.N72Ifs*49	ENST00000308731	NM_000061.2	72	aAt/at	0	validated		damaging	
MUC17		inserm.fr	GRCh37	7	100684813	100684813	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1754T																					ENST00000306151.4:c.10116del	p.Thr3373LeufsTer29	p.T3373Lfs*29	ENST00000306151	NM_001040105.1	3372	acC/ac	0	validated		damaging	
TMEM259		inserm.fr	GRCh37	19	1010637	1010637	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC2208T																					ENST00000356663.3:c.1575del	p.Ala526ArgfsTer32	p.A526Rfs*32	ENST00000356663	NM_001033026.1	525	gcC/gc	0	validated		damaging	
GPRASP3		inserm.fr	GRCh37	X	102003973	102003973	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM723T																					ENST00000372735.1:c.50del	p.Lys17ArgfsTer21	p.K17Rfs*21	ENST00000372735		17	aAg/ag	0	validated		damaging	
MMP10		inserm.fr	GRCh37	11	102650238	102650238	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC121T									Valid												ENST00000279441.4:c.344del	p.Tyr115SerfsTer4	p.Y115Sfs*4	ENST00000279441	NM_002425.2	115	tAc/tc	0	validated		damaging	
SFXN3		inserm.fr	GRCh37	10	102798951	102798951	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM723T																					ENST00000224807.5:c.853del	p.Leu285CysfsTer14	p.L285Cfs*14	ENST00000224807	NM_030971.3	285	Ctg/tg	0	validated		damaging	
COL11A1		inserm.fr	GRCh37	1	103355016	103355016	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM423T																					ENST00000370096.3:c.4459del	p.Asp1487MetfsTer11	p.D1487Mfs*11	ENST00000370096	NM_001854.3	1487	Gat/at	0	validated		damaging	
BAG5		inserm.fr	GRCh37	14	104026528	104026528	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T																					ENST00000337322.4:c.1097delA	p.Asn366ThrfsTer12	p.N366Tfs*12	ENST00000337322	NM_001015049.2	366	aAc/ac	0	validated		damaging	
PSD		inserm.fr	GRCh37	10	104176197	104176197	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM723T																					ENST00000020673.5:c.599del	p.Pro200LeufsTer17	p.P200Lfs*17	ENST00000020673	NM_001270966.1	200	cCt/ct	0	validated		damaging	
ALCAM		inserm.fr	GRCh37	3	105266132	105266132	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	-	-			BCM269T									Valid												ENST00000306107.5:c.1240+4del		p.X414_splice	ENST00000306107	NM_001627.3			0	validated		damaging	
TGFBRAP1		inserm.fr	GRCh37	2	105924223	105924223	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM531T									Valid												ENST00000393359.2:c.536del	p.Phe179SerfsTer6	p.F179Sfs*6	ENST00000393359		179	tTc/tc	0	validated		damaging	
C2orf49		inserm.fr	GRCh37	2	105959436	105959436	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC2103T																					ENST00000258457.2:c.398del	p.Ser133ThrfsTer20	p.S133Tfs*20	ENST00000258457		133	aGc/ac	0	validated		damaging	
PRKAR2B		inserm.fr	GRCh37	7	106781346	106781346	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1209T																					ENST00000265717.4:c.535del	p.Glu179SerfsTer3	p.E179Sfs*3	ENST00000265717	NM_002736.2	179	Gag/ag	0	validated		damaging	
SLC26A4		inserm.fr	GRCh37	7	107323684	107323684	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM275T									Valid												ENST00000265715.3:c.803del	p.Asn268IlefsTer21	p.N268Ifs*21	ENST00000265715	NM_000441.1	268	aAt/at	0	validated		damaging	
ST6GAL2		inserm.fr	GRCh37	2	107459971	107459971	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC320T									Valid												ENST00000409382.3:c.463del	p.Glu155SerfsTer19	p.E155Sfs*19	ENST00000409382	NM_001142351.1	155	Gag/ag	0	validated		damaging	
MUC2		inserm.fr	GRCh37	11	1078525	1078525	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1743T																					ENST00000441003.2:c.734del	p.Pro245ArgfsTer73	p.P245Rfs*73	ENST00000441003	NM_002457.2	245	Ccg/cg	0	not done		damaging	
NPAT		inserm.fr	GRCh37	11	108043555	108043555	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1148T																					ENST00000278612.8:c.2156del	p.Asn719IlefsTer14	p.N719Ifs*14	ENST00000278612	NM_002519.2	719	aAt/at	0	validated		damaging	
NUBP1		inserm.fr	GRCh37	16	10837743	10837743	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	-	-			CHC1183T																					ENST00000283027.5:c.19+4del		p.X7_splice	ENST00000283027	NM_002484.3			0	validated		damaging	
WSCD2		inserm.fr	GRCh37	12	108618534	108618534	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC121T									Valid												ENST00000332082.4:c.704del	p.Gly235AlafsTer15	p.G235Afs*15	ENST00000332082		234	cGg/cg	0	validated		damaging	
MYO1H		inserm.fr	GRCh37	12	109845708	109845708	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM671T																					ENST00000310903.5:c.1097del	p.Leu366Ter	p.L366*	ENST00000310903		366	tTa/ta	0	validated		damaging	
CCDC80		inserm.fr	GRCh37	3	112356992	112356992	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1085T																					ENST00000206423.3:c.1761del	p.Gly588GlufsTer40	p.G588Efs*40	ENST00000206423	NM_199512.1	587	aaA/aa	0	validated		damaging	
WDR52		inserm.fr	GRCh37	3	113077653	113077653	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM671T																					ENST00000393845.2:c.3004del	p.Glu1002LysfsTer4	p.E1002Kfs*4	ENST00000393845	NM_001164496.1	1002	Gaa/aa	0	validated		damaging	
ZW10		inserm.fr	GRCh37	11	113608998	113608998	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1148T																					ENST00000200135.3:c.1872del	p.Ala625GlnfsTer9	p.A625Qfs*9	ENST00000200135	NM_004724.3	624	aaA/aa	0	validated		damaging	
ATG7		inserm.fr	GRCh37	3	11372881	11372881	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1732T																					ENST00000354449.3:c.746del	p.Leu249TrpfsTer3	p.L249Wfs*3	ENST00000354449	NM_006395.2	249	tTg/tg	0	validated		damaging	
GPAM		inserm.fr	GRCh37	10	113919769	113919769	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC796T									Valid												ENST00000348367.4:c.1802delG	p.Gly601ValfsTer9	p.G601Vfs*9	ENST00000348367		601	gGt/gt	0	validated		damaging	
CSMD3		inserm.fr	GRCh37	8	114031312	114031312	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC307T									Valid												ENST00000297405.5:c.1014del	p.Phe338LeufsTer11	p.F338Lfs*11	ENST00000297405	NM_198123.1	338	ttT/tt	0	validated		damaging	
KIAA0368		inserm.fr	GRCh37	9	114213833	114213833	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	G	-	-			BCM543T																					ENST00000259335.4:c.559del	p.Gln187SerfsTer44	p.Q187Sfs*44	ENST00000259335	NM_001080398.1	187	Cag/ag	0	validated		damaging	
C9orf84		inserm.fr	GRCh37	9	114454596	114454596	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1626T																					ENST00000374287.3:c.3469del	p.Glu1157LysfsTer7	p.E1157Kfs*7	ENST00000374287		1157	Gaa/aa	0	validated		damaging	
FAM55D		inserm.fr	GRCh37	11	114465402	114465402	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC796T									Valid												ENST00000375478.3:c.80del	p.Phe27SerfsTer11	p.F27Sfs*11	ENST00000375478	NM_001077639.1	27	tTc/tc	0	validated		damaging	
TRIM36		inserm.fr	GRCh37	5	114472705	114472705	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1756T																					ENST00000282369.3:c.1238delT	p.Phe413SerfsTer5	p.F413Sfs*5	ENST00000282369	NM_018700.3	413	tTc/tc	0	validated		damaging	
ARSJ		inserm.fr	GRCh37	4	114823619	114823619	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM723T																					ENST00000315366.7:c.1611del	p.Asp539ThrfsTer70	p.D539Tfs*70	ENST00000315366	NM_024590.3	537	ccC/cc	0	validated		damaging	
COMMD10		inserm.fr	GRCh37	5	115428273	115428273	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC892T																					ENST00000274458.4:c.275del	p.Leu92CysfsTer5	p.L92Cfs*5	ENST00000274458	NM_016144.2	92	tTg/tg	0	validated		damaging	
TDRD1		inserm.fr	GRCh37	10	115947793	115947793	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM739T																					ENST00000251864.2:c.203del	p.Leu68CysfsTer29	p.L68Cfs*29	ENST00000251864	NM_198795.1	68	tTg/tg	0	validated		damaging	
NOS1		inserm.fr	GRCh37	12	117703230	117703230	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM723T																					ENST00000338101.4:c.2027del	p.Gly676AlafsTer64	p.G676Afs*64	ENST00000338101		676	gGc/gc	0	validated		damaging	
DDX6		inserm.fr	GRCh37	11	118629614	118629614	+	splice_region_variant,intron_variant	Splice_Region	DEL	G	-	-			BCM723T																					ENST00000264018.4:c.865-3delC		p.X289_splice	ENST00000264018	NM_004397.4			0	validated		damaging	
FOXR1		inserm.fr	GRCh37	11	118851358	118851358	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM723T																					ENST00000317011.3:c.770del	p.Gly257AspfsTer17	p.G257Dfs*17	ENST00000317011	NM_181721.2	257	gGa/ga	0	validated		damaging	
SYNPO2		inserm.fr	GRCh37	4	119951246	119951246	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1205T																					ENST00000307142.4:c.1316del	p.Gly439ValfsTer22	p.G439Vfs*22	ENST00000307142	NM_133477.2	439	gGt/gt	0	validated		damaging	
PRDX3		inserm.fr	GRCh37	10	120933347	120933347	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCB151T																					ENST00000298510.2:c.349del	p.Asp117ThrfsTer9	p.D117Tfs*9	ENST00000298510	NM_006793.3	117	Gac/ac	0	validated		damaging	
BAG3		inserm.fr	GRCh37	10	121436548	121436548	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1035T									Valid												ENST00000369085.3:c.1482del	p.Glu495AsnfsTer71	p.E495Nfs*71	ENST00000369085	NM_004281.3	494	ctT/ct	0	validated		damaging	
IQCB1		inserm.fr	GRCh37	3	121500687	121500687	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T																					ENST00000310864.6:c.1313del	p.Lys438ArgfsTer21	p.K438Rfs*21	ENST00000310864	NM_001023570.2	438	aAg/ag	0	validated		damaging	
MCMBP		inserm.fr	GRCh37	10	121595083	121595083	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1629T																					ENST00000360003.3:c.1682del	p.Leu561TrpfsTer9	p.L561Wfs*9	ENST00000360003	NM_001256378.1	561	tTg/tg	0	validated		damaging	
MCMBP		inserm.fr	GRCh37	10	121598087	121598087	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1556T																					ENST00000360003.3:c.1374del	p.Ile458MetfsTer19	p.I458Mfs*19	ENST00000360003	NM_001256378.1	458	atC/at	0	not done		damaging	
GLI2		inserm.fr	GRCh37	2	121747126	121747126	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM723T																					ENST00000452319.1:c.3636del	p.Ser1213ProfsTer7	p.S1213Pfs*7	ENST00000452319		1212	ccC/cc	0	validated		damaging	
TMEM120B		inserm.fr	GRCh37	12	122181645	122181645	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC2099T																					ENST00000449592.2:c.180del	p.Leu61SerfsTer45	p.L61Sfs*45	ENST00000449592	NM_001080825.2	60	acA/ac	0	validated		damaging	
IQUB		inserm.fr	GRCh37	7	123143399	123143399	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1736T																					ENST00000466202.1:c.551del	p.Asn184MetfsTer4	p.N184Mfs*4	ENST00000466202	NM_001282855.1	184	aAt/at	0	validated		damaging	
TRDN		inserm.fr	GRCh37	6	123759209	123759209	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T									Valid												ENST00000398178.3:c.1050delA	p.Glu351SerfsTer13	p.E351Sfs*13	ENST00000398178	NM_006073.3	350	aaA/aa	0	validated		damaging	
OR8D4		inserm.fr	GRCh37	11	123777411	123777411	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1604T																					ENST00000321355.2:c.273del	p.Ile92SerfsTer7	p.I92Sfs*7	ENST00000321355	NM_001005197.1	91	tcC/tc	0	validated		damaging	
TRDN		inserm.fr	GRCh37	6	123786069	123786069	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC912T									Valid												ENST00000398178.3:c.913del	p.Ala305HisfsTer59	p.A305Hfs*59	ENST00000398178	NM_006073.3	305	Gca/ca	0	validated		damaging	
KALRN		inserm.fr	GRCh37	3	124431861	124431861	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM723T																					ENST00000291478.5:c.3064del	p.Met1022Ter	p.M1022*	ENST00000291478	NM_007064.3	1022	Atg/tg	0	validated		damaging	
LHX6		inserm.fr	GRCh37	9	124971944	124971944	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1182T																					ENST00000394319.4:c.1107delC	p.Val370SerfsTer164	p.V370Sfs*164	ENST00000394319	NM_014368.4	369	ccC/cc	0	not done		damaging	
ANKRD50		inserm.fr	GRCh37	4	125600037	125600037	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1704T																					ENST00000504087.1:c.536del	p.Gly179GlufsTer2	p.G179Efs*2	ENST00000504087	NM_020337.2	179	gGa/ga	0	validated		damaging	
KLF15		inserm.fr	GRCh37	3	126071189	126071189	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1739T																					ENST00000296233.3:c.577del	p.Ser193ProfsTer36	p.S193Pfs*36	ENST00000296233	NM_014079.3	193	Tcc/cc	0	validated		damaging	
HEY2		inserm.fr	GRCh37	6	126080665	126080665	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1185T																					ENST00000368364.3:c.731del	p.Gly244AlafsTer103	p.G244Afs*103	ENST00000368364	NM_012259.2	244	gGc/gc	0	validated		damaging	
RPUSD4		inserm.fr	GRCh37	11	126081350	126081350	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCB151T																					ENST00000298317.4:c.184del	p.Glu62SerfsTer15	p.E62Sfs*15	ENST00000298317	NM_032795.2	62	Gag/ag	0	validated		damaging	
TXNRD3NB		inserm.fr	GRCh37	3	126291225	126291225	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM723T																					ENST00000383572.2:c.162del	p.Phe54LeufsTer16	p.F54Lfs*16	ENST00000383572	NM_001039783.1	54	ttT/tt	0	validated		damaging	
PLXNA1		inserm.fr	GRCh37	3	126748746	126748746	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1736T																					ENST00000393409.2:c.4900del	p.Asp1634ThrfsTer9	p.D1634Tfs*9	ENST00000393409	NM_032242.3	1634	Gac/ac	0	validated		damaging	
MEGF10		inserm.fr	GRCh37	5	126754903	126754903	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM483T									Valid												ENST00000274473.6:c.1397del	p.Pro466LeufsTer32	p.P466Lfs*32	ENST00000274473	NM_032446.2	466	cCt/ct	0	validated		damaging	
FBN2		inserm.fr	GRCh37	5	127653877	127653877	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1600T																					ENST00000508053.1:c.4681del	p.Asp1561IlefsTer4	p.D1561Ifs*4	ENST00000508053		1561	Gat/at	0	validated		damaging	
ADAM12		inserm.fr	GRCh37	10	127753479	127753479	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM695T																					ENST00000368679.4:c.1514del	p.Asn505ThrfsTer71	p.N505Tfs*71	ENST00000368679	NM_003474.4	505	aAc/ac	0	validated		damaging	
THEMIS		inserm.fr	GRCh37	6	128134090	128134090	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1714T																					ENST00000543064.1:c.1696del	p.Thr566GlnfsTer3	p.T566Qfs*3	ENST00000543064	NM_001164685.1	566	Aca/ca	0	not done		damaging	
SMARCA1		inserm.fr	GRCh37	X	128623025	128623025	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1738T																					ENST00000371122.4:c.1986del	p.Glu663ArgfsTer6	p.E663Rfs*6	ENST00000371122	NM_003069.3	662	aaA/aa	0	not done		damaging	
TRIB2		inserm.fr	GRCh37	2	12880792	12880792	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC703T																					ENST00000155926.4:c.904del	p.Ile302PhefsTer74	p.I302Ffs*74	ENST00000155926	NM_021643.3	302	Att/tt	0	validated		damaging	
LARP1B		inserm.fr	GRCh37	4	129028524	129028524	+	intron_variant	Intron	DEL	T	-	-			CHC1746T																					ENST00000326639.6:c.988+56del		*330*	ENST00000326639	NM_018078.3			0	validated		damaging	
MAST1		inserm.fr	GRCh37	19	12976540	12976540	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCB151T																					ENST00000251472.4:c.1814del	p.Leu605ArgfsTer37	p.L605Rfs*37	ENST00000251472	NM_014975.2	605	cTg/cg	0	validated		damaging	
CPA4		inserm.fr	GRCh37	7	129950821	129950821	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC798T									Valid												ENST00000222482.4:c.988del	p.Glu330AsnfsTer54	p.E330Nfs*54	ENST00000222482	NM_016352.3	330	Gaa/aa	0	validated		damaging	
SYCE2		inserm.fr	GRCh37	19	13010891	13010891	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T																					ENST00000293695.7:c.539del	p.Lys180SerfsTer57	p.K180Sfs*57	ENST00000293695	NM_001105578.1	180	aAg/ag	0	validated		damaging	
SNTG2		inserm.fr	GRCh37	2	1312314	1312314	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1616T																					ENST00000308624.5:c.1333del	p.Val445TrpfsTer37	p.V445Wfs*37	ENST00000308624	NM_018968.3	445	Gtg/tg	0	validated		damaging	
CSF2		inserm.fr	GRCh37	5	131410501	131410501	+	splice_acceptor_variant	Splice_Site	DEL	A	-	-			CHC218T																					ENST00000296871.2:c.202-2del		p.X68_splice	ENST00000296871	NM_000758.3			0	validated		damaging	
DLC1		inserm.fr	GRCh37	8	13162815	13162815	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	-	-			BCM723T																					ENST00000276297.4:c.1315-4delT		p.X439_splice	ENST00000276297	NM_182643.2			0	validated		damaging	
PLXNA4		inserm.fr	GRCh37	7	131887438	131887438	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC917T																					ENST00000359827.3:c.2553del	p.Ser853AlafsTer11	p.S853Afs*11	ENST00000359827		851	gcC/gc	0	validated		damaging	
PPP2R4		inserm.fr	GRCh37	9	131890345	131890345	+	intron_variant	Intron	DEL	G	-	-			CHC432T																					ENST00000393370.2:c.217-919del		*73*	ENST00000393370	NM_178000.2			0	validated		damaging	
POTEE		inserm.fr	GRCh37	2	131976049	131976049	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC313T									Valid												ENST00000356920.5:c.74del	p.Gly25AlafsTer30	p.G25Afs*30	ENST00000356920	NM_001083538.1	25	gGc/gc	0	validated		damaging	
DDX51		inserm.fr	GRCh37	12	132625437	132625437	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1545T																					ENST00000397333.3:c.1379del	p.Gly460AlafsTer87	p.G460Afs*87	ENST00000397333	NM_175066.3	460	gGc/gc	0	validated		damaging	
FBRSL1		inserm.fr	GRCh37	12	133148065	133148065	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM723T									Valid												ENST00000434748.2:c.1386del	p.Phe463SerfsTer33	p.F463Sfs*33	ENST00000434748	NM_001142641.1	462	ccC/cc	0	validated		damaging	
GOLGA3		inserm.fr	GRCh37	12	133375067	133375067	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	-	-			BCM723T																					ENST00000204726.3:c.1801-4del		p.X601_splice	ENST00000204726	NM_005895.3			0	validated		damaging	
ZNF605		inserm.fr	GRCh37	12	133502645	133502645	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T																					ENST00000392321.3:c.1333del	p.Ile445PhefsTer3	p.I445Ffs*3	ENST00000392321	NM_001164715.1	445	Att/tt	0	validated		damaging	
CDKL3		inserm.fr	GRCh37	5	133634349	133634349	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM337T																					ENST00000265334.4:c.1772del	p.Phe591SerfsTer9	p.F591Sfs*9	ENST00000265334	NM_001113575.1	591	tTc/tc	0	validated		damaging	
NCAPD3		inserm.fr	GRCh37	11	134078848	134078848	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	-	-			BCM723T																					ENST00000534548.2:c.795-3delT		p.X265_splice	ENST00000534548	NM_015261.2			0	validated		damaging	
NUP205		inserm.fr	GRCh37	7	135269688	135269688	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1205T																					ENST00000285968.6:c.1151del	p.Gln384ArgfsTer22	p.Q384Rfs*22	ENST00000285968	NM_015135.2	384	cAg/cg	0	validated		damaging	
BOD1L1		inserm.fr	GRCh37	4	13610162	13610162	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T																					ENST00000040738.5:c.1734del	p.Asp579IlefsTer40	p.D579Ifs*40	ENST00000040738	NM_148894.2	578	aaA/aa	0	validated		damaging	
C9orf96		inserm.fr	GRCh37	9	136260757	136260757	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1594T																					ENST00000371957.3:c.733del	p.Leu245SerfsTer8	p.L245Sfs*8	ENST00000371957	NM_153710.4	245	Ctc/tc	0	validated		damaging	
SPOCK1		inserm.fr	GRCh37	5	136314446	136314446	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1035T									Valid												ENST00000394945.1:c.1217del	p.Pro406GlnfsTer8	p.P406Qfs*8	ENST00000394945	NM_004598.3	406	cCa/ca	0	validated		damaging	
SARDH		inserm.fr	GRCh37	9	136599224	136599224	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1751T																					ENST00000371872.4:c.72del	p.Pro25HisfsTer22	p.P25Hfs*22	ENST00000371872	NM_007101.3	24	ggG/gg	0	validated		damaging	
DGKI		inserm.fr	GRCh37	7	137172397	137172397	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC2362T																					ENST00000288490.5:c.2341del	p.Asp781IlefsTer9	p.D781Ifs*9	ENST00000288490	NM_004717.2	781	Gat/at	0	validated		damaging	
KIAA1244		inserm.fr	GRCh37	6	138656280	138656280	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1736T																					ENST00000251691.4:c.6297del	p.Ser2100AlafsTer7	p.S2100Afs*7	ENST00000251691	NM_020340.4	2099	ggG/gg	0	validated		damaging	
MCF2		inserm.fr	GRCh37	X	138668622	138668622	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM567T																					ENST00000519895.1:c.2775del	p.Ser925ArgfsTer67	p.S925Rfs*67	ENST00000519895	NM_001171876.1	925	agT/ag	0	validated		damaging	
UBE2D2		inserm.fr	GRCh37	5	138994467	138994467	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM325T																					ENST00000398733.3:c.220del	p.Tyr74IlefsTer24	p.Y74Ifs*24	ENST00000398733	NM_003339.2	74	Tat/at	0	validated		damaging	
SLC7A11		inserm.fr	GRCh37	4	139153539	139153539	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	-	-			BCM723T									Valid												ENST00000280612.5:c.405-3delT		p.X135_splice	ENST00000280612	NM_014331.3			0	validated		damaging	
FAM135B		inserm.fr	GRCh37	8	139163570	139163570	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC432T																					ENST00000395297.1:c.3148del	p.Glu1050ArgfsTer57	p.E1050Rfs*57	ENST00000395297	NM_015912.3	1050	Gag/ag	0	validated		damaging	
FUT7		inserm.fr	GRCh37	9	139925446	139925446	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC793T									Valid												ENST00000314412.6:c.746del	p.Gly249AlafsTer42	p.G249Afs*42	ENST00000314412	NM_004479.3	249	Ggc/gc	0	validated		damaging	
PNPLA7		inserm.fr	GRCh37	9	140372492	140372492	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC097T																					ENST00000406427.1:c.2876del	p.Gly959GlufsTer57	p.G959Efs*57	ENST00000406427	NM_001098537.1	959	gGa/ga	0	validated		damaging	
PCDHGA2		inserm.fr	GRCh37	5	140719434	140719434	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCB109T									Valid												ENST00000394576.2:c.896del	p.Gly299GlufsTer3	p.G299Efs*3	ENST00000394576	NM_018915.2	299	gGa/ga	0	validated		damaging	
LRP1B		inserm.fr	GRCh37	2	141457828	141457828	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1545T																					ENST00000389484.3:c.6790del	p.Ile2264LeufsTer60	p.I2264Lfs*60	ENST00000389484	NM_018557.2	2264	Att/tt	0	validated		damaging	
NDFIP1		inserm.fr	GRCh37	5	141520131	141520131	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1154T																					ENST00000253814.4:c.499del	p.Ser167ProfsTer21	p.S167Pfs*21	ENST00000253814	NM_030571.3	167	Tcc/cc	0	validated		damaging	
CLEC5A		inserm.fr	GRCh37	7	141629948	141629948	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCB111T									Valid												ENST00000546910.1:c.523del	p.Cys175ValfsTer20	p.C175Vfs*20	ENST00000546910	NM_013252.2	175	Tgt/gt	0	validated		damaging	
ZNF330		inserm.fr	GRCh37	4	142143539	142143539	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM723T									Valid												ENST00000262990.4:c.14del	p.Lys5ArgfsTer18	p.K5Rfs*18	ENST00000262990	NM_014487.4	5	aAg/ag	0	validated		damaging	
ATR		inserm.fr	GRCh37	3	142274740	142274740	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T																					ENST00000350721.4:c.2320delA	p.Ile774TyrfsTer5	p.I774Yfs*5	ENST00000350721	NM_001184.3	774	Ata/ta	0	validated		damaging	
U2SURP		inserm.fr	GRCh37	3	142746028	142746028	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM371T																					ENST00000473835.2:c.1312del	p.Val438LeufsTer11	p.V438Lfs*11	ENST00000473835	NM_001080415.1	438	Gtt/tt	0	validated		damaging	
NR3C1		inserm.fr	GRCh37	5	142779539	142779539	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1556T																					ENST00000231509.3:c.866del	p.Pro289LeufsTer3	p.P289Lfs*3	ENST00000231509		289	cCt/ct	0	not done		damaging	
INPP4B		inserm.fr	GRCh37	4	143007379	143007379	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC2034T																					ENST00000262992.4:c.2405del	p.Leu802Ter	p.L802*	ENST00000262992	NM_001101669.1	802	tTa/ta	0	validated		damaging	
DAZAP1		inserm.fr	GRCh37	19	1434835	1434835	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM723T									Valid												ENST00000233078.4:c.1148del	p.Gly383AlafsTer46	p.G383Afs*46	ENST00000233078	NM_018959.2	383	gGc/gc	0	validated		damaging	
NOBOX		inserm.fr	GRCh37	7	144096190	144096190	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM723T																					ENST00000467773.1:c.1322delC	p.Pro441HisfsTer25	p.P441Hfs*25	ENST00000467773	NM_001080413.3	441	cCa/ca	0	validated		damaging	
FREM3		inserm.fr	GRCh37	4	144548784	144548784	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1744T																					ENST00000329798.5:c.5405del	p.Gly1802GlufsTer42	p.G1802Efs*42	ENST00000329798	NM_001168235.1	1802	gGa/ga	0	validated		damaging	
PDE4DIP		inserm.fr	GRCh37	1	144863324	144863324	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC121T																					ENST00000369356.4:c.6079delC	p.Leu2027Ter	p.L2027*	ENST00000369356	NM_014644.5	2027	Ctg/tg	0	validated		damaging	
ANKRD35		inserm.fr	GRCh37	1	145562288	145562288	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC303T									Valid												ENST00000355594.4:c.1976del	p.Lys659SerfsTer18	p.K659Sfs*18	ENST00000355594	NM_144698.4	659	aAg/ag	0	validated		damaging	
POLR3C		inserm.fr	GRCh37	1	145609267	145609267	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC429T									Valid												ENST00000334163.3:c.70del	p.Ile24LeufsTer5	p.I24Lfs*5	ENST00000334163	NM_006468.6	24	Att/tt	0	validated		damaging	
RNF115		inserm.fr	GRCh37	1	145684619	145684619	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM723T																					ENST00000369291.5:c.608del	p.Pro203GlnfsTer13	p.P203Qfs*13	ENST00000369291	NM_014455.3	203	cCa/ca	0	validated		damaging	
GRM1		inserm.fr	GRCh37	6	146755855	146755855	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM257T																					ENST00000361719.2:c.3508del	p.Val1170CysfsTer32	p.V1170Cfs*32	ENST00000361719		1170	Gtg/tg	0	validated		damaging	
EMR3		inserm.fr	GRCh37	19	14736400	14736400	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1738T																					ENST00000253673.5:c.1824del	p.Gln608HisfsTer10	p.Q608Hfs*10	ENST00000253673	NM_032571.3	608	caA/ca	0	not done		damaging	
EMR3		inserm.fr	GRCh37	19	14774331	14774331	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1053T																					ENST00000253673.5:c.98del	p.Pro33GlnfsTer141	p.P33Qfs*141	ENST00000253673	NM_032571.3	33	cCa/ca	0	validated		damaging	
CUL1		inserm.fr	GRCh37	7	148464772	148464772	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1754T																					ENST00000325222.4:c.1014del	p.Lys338AsnfsTer23	p.K338Nfs*23	ENST00000325222	NM_003592.2	338	aaA/aa	0	validated		damaging	
MOSPD2		inserm.fr	GRCh37	X	14915314	14915314	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCB167T																					ENST00000380492.3:c.431del	p.Pro144LeufsTer2	p.P144Lfs*2	ENST00000380492	NM_152581.3	144	cCt/ct	0	validated		damaging	
PDE6A		inserm.fr	GRCh37	5	149323853	149323853	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1715T																					ENST00000255266.5:c.384del	p.Asp129ThrfsTer54	p.D129Tfs*54	ENST00000255266	NM_000440.2	128	ccC/cc	0	validated		damaging	
SLC26A2		inserm.fr	GRCh37	5	149360913	149360913	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1594T																					ENST00000286298.4:c.1757del	p.Pro586LeufsTer5	p.P586Lfs*5	ENST00000286298	NM_000112.3	586	cCt/ct	0	validated		damaging	
USP9Y		inserm.fr	GRCh37	Y	14949990	14949990	+	intron_variant	Intron	DEL	T	-	-			BCM723T									Valid												ENST00000338981.3:c.5337+12del		*1779*	ENST00000338981	NM_004654.3			0	validated		damaging	
PCMT1		inserm.fr	GRCh37	6	150123339	150123339	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1600T																					ENST00000367384.2:c.682del	p.Ile228Ter	p.I228*	ENST00000367384		228	Ata/ta	0	validated		damaging	
ASB10		inserm.fr	GRCh37	7	150878415	150878415	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM275T									Valid												ENST00000420175.2:c.715del	p.Ala239HisfsTer145	p.A239Hfs*145	ENST00000420175		239	Gca/ca	0	validated		damaging	
SETDB1		inserm.fr	GRCh37	1	150900310	150900310	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC961T									Valid												ENST00000271640.5:c.120del	p.Arg41GlyfsTer21	p.R41Gfs*21	ENST00000271640	NM_001145415.1	40	ctT/ct	0	validated		damaging	
GABPB2		inserm.fr	GRCh37	1	151090437	151090437	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC302T									Valid												ENST00000368918.3:c.1052del	p.Gly351AlafsTer26	p.G351Afs*26	ENST00000368918	NM_144618.2	351	gGc/gc	0	validated		damaging	
WDR86		inserm.fr	GRCh37	7	151092993	151092993	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC437T																					ENST00000334493.6:c.595del	p.Leu199Ter	p.L199*	ENST00000334493	NM_198285.2	199	Cta/ta	0	validated		damaging	
PLEKHG1		inserm.fr	GRCh37	6	151161449	151161449	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM759T																					ENST00000367328.1:c.3575del	p.Ser1192Ter	p.S1192*	ENST00000367328	NM_001029884.1	1192	tCa/ta	0	validated		damaging	
CELF3		inserm.fr	GRCh37	1	151678372	151678372	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM567T																					ENST00000290583.4:c.1196del	p.Met399SerfsTer28	p.M399Sfs*28	ENST00000290583	NM_001172648.1	399	aTg/ag	0	validated		damaging	
MLL3		inserm.fr	GRCh37	7	151864347	151864347	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM397T																					ENST00000262189.6:c.9634del	p.Leu3212PhefsTer37	p.L3212Ffs*37	ENST00000262189	NM_170606.2	3212	Ctt/tt	0	validated		damaging	
TNFAIP6		inserm.fr	GRCh37	2	152236059	152236059	+	3_prime_UTR_variant	3'UTR	DEL	A	-	-			CHC2128T																					ENST00000243347.3:c.*12del		*4*	ENST00000243347	NM_007115.3			0	not done		damaging	
NEB		inserm.fr	GRCh37	2	152531009	152531009	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM337T																					ENST00000397345.3:c.3969del	p.Arg1324GlufsTer36	p.R1324Efs*36	ENST00000397345	NM_001164508.1	1323	tcG/tc	0	validated		damaging	
SPRR1A		inserm.fr	GRCh37	1	152957738	152957738	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1061T									Valid												ENST00000307122.2:c.35del	p.Pro12HisfsTer10	p.P12Hfs*10	ENST00000307122	NM_001199828.1	11	aCc/ac	0	validated		damaging	
PKLR		inserm.fr	GRCh37	1	155260472	155260472	+	splice_region_variant,intron_variant	Splice_Region	DEL	G	-	-			BCM723T									Valid												ENST00000342741.4:c.1619-3del		p.X540_splice	ENST00000342741	NM_000298.5			0	validated		damaging	
SHH		inserm.fr	GRCh37	7	155595921	155595921	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1209T																					ENST00000297261.2:c.1062del	p.Leu355SerfsTer59	p.L355Sfs*59	ENST00000297261	NM_000193.2	354	atT/at	0	validated		damaging	
YY1AP1		inserm.fr	GRCh37	1	155629988	155629988	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1177T																					ENST00000368339.5:c.2127del	p.Cys709Ter	p.C709*	ENST00000368339	NM_001198903.1	709	tgT/tg	0	not done		damaging	
LEKR1		inserm.fr	GRCh37	3	156645275	156645275	+	downstream_gene_variant	3'Flank	DEL	T	-	-			CHC1751T																								ENST00000491763	NM_001193283.1			0	validated		damaging	
CYP4F24P		inserm.fr	GRCh37	19	15881988	15881988	+	non_coding_transcript_exon_variant	RNA	DEL	T	-	-			CHC1616T																					ENST00000586049.3:n.696del		*232*	ENST00000586049				0	validated		damaging	
IFI16		inserm.fr	GRCh37	1	159021871	159021871	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC2110Tbis																					ENST00000368131.4:c.1900del	p.Val634CysfsTer9	p.V634Cfs*9	ENST00000368131	NM_005531.2	634	Gtg/tg	0	validated		damaging	
COPA		inserm.fr	GRCh37	1	160260355	160260355	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1744T																					ENST00000368069.3:c.3569del	p.Pro1190GlnfsTer2	p.P1190Qfs*2	ENST00000368069		1190	cCa/ca	0	validated		damaging	
RAPGEF2		inserm.fr	GRCh37	4	160268116	160268116	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC902T																					ENST00000264431.4:c.3195del	p.Lys1066ArgfsTer5	p.K1066Rfs*5	ENST00000264431	NM_014247.2	1065	cgG/cg	0	not done		damaging	
IGF2R		inserm.fr	GRCh37	6	160485495	160485495	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM723T									Valid												ENST00000356956.1:c.3949del	p.Asp1317ThrfsTer27	p.D1317Tfs*27	ENST00000356956	NM_000876.2	1317	Gac/ac	0	validated		damaging	
IFIH1		inserm.fr	GRCh37	2	163167427	163167427	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1594T																					ENST00000263642.2:c.470del	p.Asn157ThrfsTer8	p.N157Tfs*8	ENST00000263642	NM_022168.3	157	aAc/ac	0	validated		damaging	
PXDN		inserm.fr	GRCh37	2	1652758	1652758	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1757T																					ENST00000252804.4:c.2794del	p.His932ThrfsTer53	p.H932Tfs*53	ENST00000252804	NM_012293.1	932	Cac/ac	0	validated		damaging	
SCN3A		inserm.fr	GRCh37	2	165953892	165953892	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC313T									Valid												ENST00000283254.7:c.4109del	p.Gly1370ValfsTer12	p.G1370Vfs*12	ENST00000283254	NM_001081676.1	1370	gGt/gt	0	validated		damaging	
TLL1		inserm.fr	GRCh37	4	166916324	166916324	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC879T																					ENST00000061240.2:c.626del	p.Pro209LeufsTer8	p.P209Lfs*8	ENST00000061240	NM_012464.4	209	cCt/ct	0	validated		damaging	
SMOC2		inserm.fr	GRCh37	6	168947783	168947783	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC801T																					ENST00000354536.5:c.529del	p.Ser177ProfsTer3	p.S177Pfs*3	ENST00000354536	NM_022138.2	177	Tcc/cc	0	validated		damaging	
PHF10		inserm.fr	GRCh37	6	170112619	170112619	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC898T																					ENST00000339209.4:c.820del	p.Leu274CysfsTer6	p.L274Cfs*6	ENST00000339209	NM_133325.2	274	Ctg/tg	0	validated		damaging	
GORAB		inserm.fr	GRCh37	1	170521158	170521158	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	A	-	-			CHC322T									Valid												ENST00000367763.3:c.740del	p.Lys247SerfsTer15	p.K247Sfs*15	ENST00000367763	NM_152281.2	247	aAg/ag	0	validated		damaging	
STK10		inserm.fr	GRCh37	5	171520720	171520720	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1556T																					ENST00000176763.5:c.1250del	p.Ser417Ter	p.S417*	ENST00000176763	NM_005990.3	417	tCa/ta	0	not done		damaging	
BASP1		inserm.fr	GRCh37	5	17275685	17275685	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM683T																					ENST00000322611.3:c.360del	p.Ala122LeufsTer102	p.A122Lfs*102	ENST00000322611	NM_006317.4	120	ccC/cc	0	validated		damaging	
SERPINC1		inserm.fr	GRCh37	1	173873128	173873128	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC889T																					ENST00000367698.3:c.1294del	p.Val432Ter	p.V432*	ENST00000367698	NM_000488.3	432	Gtg/tg	0	validated		damaging	
SP3		inserm.fr	GRCh37	2	174820874	174820874	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC304T									Valid												ENST00000310015.6:c.366del	p.Ala123LeufsTer4	p.A123Lfs*4	ENST00000310015	NM_001172712.1	122	gaA/ga	0	validated		damaging	
RFWD2		inserm.fr	GRCh37	1	175957465	175957465	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1207T																					ENST00000367669.3:c.1931delA	p.Asn644ThrfsTer3	p.N644Tfs*3	ENST00000367669	NM_022457.5	644	aAc/ac	0	validated		damaging	
PAPPA2		inserm.fr	GRCh37	1	176526149	176526149	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1704T																					ENST00000367662.3:c.691del	p.Val231SerfsTer28	p.V231Sfs*28	ENST00000367662	NM_020318.2	231	Gtc/tc	0	validated		damaging	
TBL1XR1		inserm.fr	GRCh37	3	176750900	176750900	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC2103T																					ENST00000430069.1:c.1275del	p.Arg425SerfsTer5	p.R425Sfs*5	ENST00000430069		425	agG/ag	0	validated		damaging	
WDR17		inserm.fr	GRCh37	4	177093617	177093617	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM671T																					ENST00000280190.4:c.3311del	p.Leu1104Ter	p.L1104*	ENST00000280190		1104	tTa/ta	0	validated		damaging	
C5orf60		inserm.fr	GRCh37	5	179071035	179071035	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC2200T																					ENST00000448248.2:c.275del	p.Leu92Ter	p.L92*	ENST00000448248	NM_001142306.1	92	tTg/tg	0	validated		damaging	
LTC4S		inserm.fr	GRCh37	5	179221125	179221125	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC2052T																					ENST00000292596.10:c.44del	p.Gly15GlufsTer12	p.G15Efs*12	ENST00000292596	NM_145867.1	15	gGa/ga	0	validated		damaging	
ACTL6A		inserm.fr	GRCh37	3	179298492	179298492	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	-	-			CHC2115T																					ENST00000429709.2:c.830+3del		p.X277_splice	ENST00000429709	NM_004301.3			0	validated		damaging	
TTN		inserm.fr	GRCh37	2	179433730	179433730	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC2029T																					ENST00000589042.1:c.77129del	p.Val25710AlafsTer8	p.V25710Afs*8	ENST00000589042	NM_001267550.1	25710	gTc/gc	0	validated		damaging	
PEX5L		inserm.fr	GRCh37	3	179533754	179533754	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCB325T									Valid												ENST00000467460.1:c.978del	p.Trp326CysfsTer9	p.W326Cfs*9	ENST00000467460	NM_001256751.1	326	tgG/tg	0	validated		damaging	
TTN		inserm.fr	GRCh37	2	179585699	179585699	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC2141T																					ENST00000589042.1:c.23047del	p.Ala7683LeufsTer14	p.A7683Lfs*14	ENST00000589042	NM_001267550.1	7683	Gct/ct	0	validated		damaging	
CWC22		inserm.fr	GRCh37	2	180817255	180817255	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM723T																					ENST00000410053.3:c.1760del	p.Phe587SerfsTer17	p.F587Sfs*17	ENST00000410053	NM_020943.2	587	tTc/tc	0	validated		damaging	
MR1		inserm.fr	GRCh37	1	181018264	181018264	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC2099T																					ENST00000367580.5:c.144del	p.Tyr49ThrfsTer40	p.Y49Tfs*40	ENST00000367580	NM_001531.2	48	ggG/gg	0	validated		damaging	
RGSL1		inserm.fr	GRCh37	1	182443500	182443500	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1211T																					ENST00000294854.8:c.1254del	p.Asn419MetfsTer19	p.N419Mfs*19	ENST00000294854	NM_001137669.1	418	aaG/aa	0	validated		damaging	
MPV17L2		inserm.fr	GRCh37	19	18305825	18305825	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM723T																					ENST00000599612.2:c.493del	p.Gln165AsnfsTer10	p.Q165Nfs*10	ENST00000599612	NM_032683.2	165	Caa/aa	0	validated		damaging	
LDHA		inserm.fr	GRCh37	11	18418421	18418421	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC2029T																					ENST00000540430.1:c.119del	p.Asn40IlefsTer3	p.N40Ifs*3	ENST00000540430	NM_001165414.1	40	aAt/at	0	validated		damaging	
EHHADH		inserm.fr	GRCh37	3	184971768	184971768	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1594T																					ENST00000231887.3:c.43del	p.Arg15AlafsTer18	p.R15Afs*18	ENST00000231887	NM_001166415.1	15	Cgc/gc	0	validated		damaging	
KNG1		inserm.fr	GRCh37	3	186460115	186460115	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM531T																					ENST00000265023.4:c.1930del	p.Ser644LeufsTer31	p.S644Lfs*31	ENST00000265023	NM_001102416.2	644	Tct/ct	0	validated		damaging	
HDAC9		inserm.fr	GRCh37	7	18705911	18705911	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC2098T																					ENST00000441542.2:c.1543del	p.Asp515ThrfsTer34	p.D515Tfs*34	ENST00000441542	NM_178425.2	515	Gac/ac	0	validated		damaging	
FAM5C		inserm.fr	GRCh37	1	190195392	190195392	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC798T									Valid												ENST00000367462.3:c.781del	p.Ser261AlafsTer46	p.S261Afs*46	ENST00000367462	NM_199051.1	261	Agc/gc	0	validated		damaging	
FAM5C		inserm.fr	GRCh37	1	190234159	190234159	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC912T									Valid												ENST00000367462.3:c.454del	p.Asp152ThrfsTer5	p.D152Tfs*5	ENST00000367462	NM_199051.1	152	Gac/ac	0	validated		damaging	
ANKAR		inserm.fr	GRCh37	2	190608051	190608051	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC301T									Valid												ENST00000520309.1:c.3861del	p.Asn1287LysfsTer7	p.N1287Kfs*7	ENST00000520309	NM_144708.3	1287	aaT/aa	0	validated		damaging	
MRPL40		inserm.fr	GRCh37	22	19423309	19423309	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC2206T																					ENST00000333130.3:c.445del	p.Glu149AsnfsTer66	p.E149Nfs*66	ENST00000333130	NM_003776.2	149	Gaa/aa	0	validated		damaging	
SLC39A10		inserm.fr	GRCh37	2	196599611	196599611	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1137T																					ENST00000409086.3:c.2342del	p.Pro781GlnfsTer26	p.P781Qfs*26	ENST00000409086	NM_001127257.1	781	cCa/ca	0	validated		damaging	
SLC24A3		inserm.fr	GRCh37	20	19664938	19664938	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM275T									Valid												ENST00000328041.6:c.1020del	p.Lys341ArgfsTer11	p.K341Rfs*11	ENST00000328041	NM_020689.3	340	ccC/cc	0	validated		damaging	
MFI2		inserm.fr	GRCh37	3	196742377	196742377	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM723T																					ENST00000296350.5:c.1092delC	p.Tyr365ThrfsTer54	p.Y365Tfs*54	ENST00000296350	NM_005929.5	364	ccC/cc	0	validated		damaging	
HECW2		inserm.fr	GRCh37	2	197106857	197106857	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1044T																					ENST00000260983.3:c.3601del	p.Tyr1201ThrfsTer4	p.Y1201Tfs*4	ENST00000260983	NM_020760.1	1201	Tac/ac	0	validated		damaging	
HSPD1		inserm.fr	GRCh37	2	198358194	198358194	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC2216T																					ENST00000388968.3:c.723del	p.Asp241GlufsTer6	p.D241Efs*6	ENST00000388968	NM_002156.4	241	gaT/ga	0	validated		damaging	
CAMSAP2		inserm.fr	GRCh37	1	200818972	200818972	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC155T									Valid												ENST00000358823.2:c.3075del	p.Asp1025GlufsTer6	p.D1025Efs*6	ENST00000358823	NM_203459.1	1025	gaT/ga	0	validated		damaging	
ZNF682		inserm.fr	GRCh37	19	20117064	20117064	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC793T									Valid												ENST00000397165.2:c.1247del	p.Lys416ArgfsTer88	p.K416Rfs*88	ENST00000397165	NM_033196.2	416	aAg/ag	0	validated		damaging	
NAV2		inserm.fr	GRCh37	11	20136186	20136186	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM723T																					ENST00000396087.3:c.7186del	p.Asp2396ThrfsTer52	p.D2396Tfs*52	ENST00000396087	NM_001244963.1	2396	Gac/ac	0	validated		damaging	
RPS6KA3		inserm.fr	GRCh37	X	20179859	20179859	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM711T									Valid												ENST00000379565.3:c.1862del	p.Gly621ValfsTer13	p.G621Vfs*13	ENST00000379565	NM_004586.2	621	gGt/gt	0	validated		damaging	
RPS6KA3		inserm.fr	GRCh37	X	20183016	20183016	+	splice_donor_variant	Splice_Site	DEL	C	-	-			CHC1209T									Valid												ENST00000379565.3:c.1764+1del		p.X588_splice	ENST00000379565	NM_004586.2			0	validated		damaging	
IPO9		inserm.fr	GRCh37	1	201840343	201840343	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC879T																					ENST00000361565.4:c.2464del	p.Glu822SerfsTer15	p.E822Sfs*15	ENST00000361565	NM_018085.4	822	Gag/ag	0	validated		damaging	
KDM5B		inserm.fr	GRCh37	1	202710853	202710853	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	-	-			BCM723T																					ENST00000367265.3:c.2590-3del		p.X864_splice	ENST00000367265	NM_006618.3			0	validated		damaging	
ZC3H11A		inserm.fr	GRCh37	1	203786233	203786233	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T																					ENST00000545588.1:c.35del	p.Phe12SerfsTer20	p.F12Sfs*20	ENST00000545588	NM_001271675.1	12	tTc/tc	0	validated		damaging	
SMARCA2		inserm.fr	GRCh37	9	2039655	2039655	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1041T									Valid												ENST00000382203.1:c.546del	p.Arg183GlufsTer5	p.R183Efs*5	ENST00000382203		182	cTt/ct	0	validated		damaging	
SLIT2		inserm.fr	GRCh37	4	20469427	20469427	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM275T									Valid												ENST00000504154.1:c.448del	p.Ala150GlnfsTer4	p.A150Qfs*4	ENST00000504154	NM_004787.1	150	Gca/ca	0	validated		damaging	
DSTYK		inserm.fr	GRCh37	1	205180477	205180477	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC303T									Valid												ENST00000367162.3:c.187del	p.Cys63ValfsTer29	p.C63Vfs*29	ENST00000367162	NM_015375.2	63	Tgt/gt	0	validated		damaging	
KLHDC8A		inserm.fr	GRCh37	1	205312458	205312458	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC437T																					ENST00000367156.3:c.275del	p.Leu92ArgfsTer3	p.L92Rfs*3	ENST00000367156	NM_001271863.1	92	cTg/cg	0	validated		damaging	
MYOM2		inserm.fr	GRCh37	8	2063886	2063886	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1743T																					ENST00000262113.4:c.3315del	p.Ile1106LeufsTer97	p.I1106Lfs*97	ENST00000262113	NM_003970.2	1105	ctT/ct	0	not done		damaging	
MYOM2		inserm.fr	GRCh37	8	2064031	2064031	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM703T																					ENST00000262113.4:c.3347del	p.Glu1116GlyfsTer87	p.E1116Gfs*87	ENST00000262113	NM_003970.2	1116	gAg/gg	0	validated		damaging	
NDUFS1		inserm.fr	GRCh37	2	206991544	206991544	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1738T																					ENST00000455934.2:c.1951del	p.Asp651IlefsTer6	p.D651Ifs*6	ENST00000455934	NM_001199984.1	651	Gat/at	0	not done		damaging	
NDUFS1		inserm.fr	GRCh37	2	206991544	206991544	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1738T																					ENST00000455934.2:c.1951del	p.Asp651IlefsTer6	p.D651Ifs*6	ENST00000455934	NM_001199984.1	651	Gat/at	0	not done		damaging	
ZDBF2		inserm.fr	GRCh37	2	207174436	207174436	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM723T																					ENST00000374423.3:c.5184del	p.Lys1728AsnfsTer5	p.K1728Nfs*5	ENST00000374423	NM_020923.1	1728	aaA/aa	0	validated		damaging	
LAMB3		inserm.fr	GRCh37	1	209800848	209800848	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1185T																					ENST00000391911.1:c.1365del	p.Asn456ThrfsTer54	p.N456Tfs*54	ENST00000391911	NM_001017402.1	455	ccC/cc	0	validated		damaging	
TSC2		inserm.fr	GRCh37	16	2104422	2104422	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM531T																					ENST00000219476.3:c.462del	p.Tyr155ThrfsTer27	p.Y155Tfs*27	ENST00000219476	NM_000548.3	154	acC/ac	0	validated		damaging	
NPC1		inserm.fr	GRCh37	18	21123537	21123537	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	-	-			CHC2128T																					ENST00000269228.5:c.2131-4del		p.X711_splice	ENST00000269228	NM_000271.4			0	not done		damaging	
NPC1		inserm.fr	GRCh37	18	21123537	21123537	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	-	-			CHC2351T																					ENST00000269228.5:c.2131-4del		p.X711_splice	ENST00000269228	NM_000271.4			0	not done		damaging	
TSC2		inserm.fr	GRCh37	16	2121513	2121513	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	C	-	-			CHC2200T																					ENST00000219476.3:c.1842del	p.Phe615LeufsTer83	p.F615Lfs*83	ENST00000219476	NM_000548.3	614	gcC/gc	0	validated		damaging	
APOB		inserm.fr	GRCh37	2	21228780	21228780	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC889T																					ENST00000233242.1:c.10960del	p.Gln3654LysfsTer12	p.Q3654Kfs*12	ENST00000233242	NM_000384.2	3654	Caa/aa	0	validated		damaging	
APOB		inserm.fr	GRCh37	2	21234442	21234442	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM545T									Valid												ENST00000233242.1:c.5298del	p.Ser1767LeufsTer28	p.S1767Lfs*28	ENST00000233242	NM_000384.2	1766	ttC/tt	0	validated		damaging	
APOB		inserm.fr	GRCh37	2	21252826	21252826	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1041T									Valid												ENST00000233242.1:c.1414del	p.Glu472AsnfsTer16	p.E472Nfs*16	ENST00000233242	NM_000384.2	472	Gaa/aa	0	validated		damaging	
RPS6KC1		inserm.fr	GRCh37	1	213303065	213303065	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC258T									Valid												ENST00000366960.3:c.668del	p.Arg223LeufsTer8	p.R223Lfs*8	ENST00000366960	NM_012424.3	223	cGt/ct	0	validated		damaging	
PROX1		inserm.fr	GRCh37	1	214170161	214170161	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1744T																					ENST00000366958.4:c.283del	p.Gln95SerfsTer3	p.Q95Sfs*3	ENST00000366958	NM_001270616.1	95	Cag/ag	0	validated		damaging	
USH2A		inserm.fr	GRCh37	1	215844360	215844360	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC2115T																					ENST00000307340.3:c.14087del	p.Ser4696PhefsTer3	p.S4696Ffs*3	ENST00000307340	NM_206933.2	4696	tCt/tt	0	validated		damaging	
RECQL		inserm.fr	GRCh37	12	21623284	21623284	+	splice_region_variant,intron_variant	Splice_Region	DEL	C	-	-			CHC1712T																					ENST00000421138.2:c.1798-4del		p.X600_splice	ENST00000421138				0	not done		damaging	
ESRRG		inserm.fr	GRCh37	1	216692704	216692704	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1052T									Valid												ENST00000366937.1:c.958del	p.Ile320PhefsTer2	p.I320Ffs*2	ENST00000366937	NM_001243518.1	320	Att/tt	0	validated		damaging	
ESRRG		inserm.fr	GRCh37	1	216850438	216850438	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC2128T																					ENST00000366937.1:c.467del	p.Phe156SerfsTer10	p.F156Sfs*10	ENST00000366937	NM_001243518.1	156	tTc/tc	0	not done		damaging	
HNRNPC		inserm.fr	GRCh37	14	21702304	21702304	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1061T									Valid												ENST00000320084.7:c.49del	p.Arg17ValfsTer51	p.R17Vfs*51	ENST00000320084	NM_001077442.1	17	Cgt/gt	0	validated		damaging	
ABO		inserm.fr	GRCh37	9	21741	21741	+	intron_variant,non_coding_transcript_variant	Intron	DEL	A	-	-			BCM723T									Valid												ENST00000442898.2:n.292+3111del		*98*	ENST00000442898				0	validated		damaging	
CDKN2A		inserm.fr	GRCh37	9	21974672	21974672	+	splice_region_variant,intron_variant	Splice_Region	DEL	C	-	-			BCM275T									Valid												ENST00000304494.5:c.150+5del		p.X50_splice	ENST00000304494	NM_000077.4			0	validated		damaging	
PTPRN		inserm.fr	GRCh37	2	220155600	220155600	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM265T									Valid												ENST00000295718.2:c.2742del	p.Arg915GlyfsTer12	p.R915Gfs*12	ENST00000295718	NM_002846.3	914	ggG/gg	0	validated		damaging	
HRH4		inserm.fr	GRCh37	18	22048806	22048806	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM543T																					ENST00000256906.4:c.248del	p.Gly83GlufsTer48	p.G83Efs*48	ENST00000256906	NM_021624.3	83	gGa/ga	0	validated		damaging	
HLX		inserm.fr	GRCh37	1	221055613	221055613	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC798T																					ENST00000366903.6:c.880del	p.Arg294GlyfsTer8	p.R294Gfs*8	ENST00000366903	NM_021958.3	294	Agg/gg	0	validated		damaging	
RAPGEF5		inserm.fr	GRCh37	7	22200168	22200168	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1616T																					ENST00000344041.6:c.1035del	p.Glu345AspfsTer14	p.E345Dfs*14	ENST00000344041	NM_012294.3	345	gaA/ga	0	validated		damaging	
EPHA4		inserm.fr	GRCh37	2	222428752	222428752	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1044T																					ENST00000281821.2:c.522del	p.Pro175HisfsTer2	p.P175Hfs*2	ENST00000281821	NM_004438.3	174	ggG/gg	0	validated		damaging	
SLC17A6		inserm.fr	GRCh37	11	22391614	22391614	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCB109T									Valid												ENST00000263160.3:c.921del	p.Phe307LeufsTer9	p.F307Lfs*9	ENST00000263160	NM_020346.2	307	ttT/tt	0	validated		damaging	
EPHX1		inserm.fr	GRCh37	1	226026390	226026390	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM723T																					ENST00000366837.4:c.400del	p.Gln134SerfsTer12	p.Q134Sfs*12	ENST00000366837	NM_000120.3	134	Cag/ag	0	validated		damaging	
TMEM63A		inserm.fr	GRCh37	1	226050020	226050020	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1083T																					ENST00000366835.3:c.983del	p.Lys328ArgfsTer37	p.K328Rfs*37	ENST00000366835	NM_014698.2	328	aAg/ag	0	validated		damaging	
NYAP2		inserm.fr	GRCh37	2	226447195	226447195	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM671T									Valid												ENST00000272907.6:c.1062del	p.Thr356ProfsTer17	p.T356Pfs*17	ENST00000272907	NM_020864.1	354	ccG/cc	0	validated		damaging	
ZBTB40		inserm.fr	GRCh37	1	22843852	22843852	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM375T									Valid												ENST00000404138.1:c.2728del	p.Arg910AlafsTer3	p.R910Afs*3	ENST00000404138	NM_001083621.1	910	Cgc/gc	0	validated		damaging	
EPHA8		inserm.fr	GRCh37	1	22923903	22923903	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1736T																					ENST00000166244.3:c.1864del	p.Ala622ArgfsTer61	p.A622Rfs*61	ENST00000166244	NM_020526.3	622	Gcg/cg	0	validated		damaging	
DNER		inserm.fr	GRCh37	2	230450640	230450640	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM723T																					ENST00000341772.4:c.781delC	p.Leu261PhefsTer25	p.L261Ffs*25	ENST00000341772	NM_139072.3	261	Ctt/tt	0	validated		damaging	
C1orf198		inserm.fr	GRCh37	1	230979187	230979187	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM723T																					ENST00000366663.5:c.840del	p.Ser281ProfsTer37	p.S281Pfs*37	ENST00000366663	NM_032800.2	280	ccC/cc	0	validated		damaging	
LRP10		inserm.fr	GRCh37	14	23346277	23346277	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1061T																					ENST00000359591.4:c.1684del	p.Arg562AlafsTer31	p.R562Afs*31	ENST00000359591	NM_014045.3	561	cgC/cg	0	validated		damaging	
NEU2		inserm.fr	GRCh37	2	233899471	233899471	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1601T																					ENST00000233840.3:c.847del	p.Arg283AlafsTer87	p.R283Afs*87	ENST00000233840	NM_005383.2	283	Cgc/gc	0	not done		damaging	
USP40		inserm.fr	GRCh37	2	234436162	234436162	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM397T																					ENST00000450966.1:c.1649del	p.His550LeufsTer10	p.H550Lfs*10	ENST00000450966	NM_018218.2	550	cAt/ct	0	validated		damaging	
CHP2		inserm.fr	GRCh37	16	23766373	23766373	+	frameshift_variant,start_lost	Frame_Shift_Del	DEL	G	-	-			BCM371T																					ENST00000300113.2:c.6del	p.Ser3ArgfsTer44	p.S3Rfs*44	ENST00000300113	NM_022097.3	1	atG/at	0	validated		damaging	
RYR2		inserm.fr	GRCh37	1	237664016	237664016	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1714T																					ENST00000366574.2:c.2209del	p.Ile737LeufsTer5	p.I737Lfs*5	ENST00000366574	NM_001035.2	737	Att/tt	0	not done		damaging	
RYR2		inserm.fr	GRCh37	1	237829821	237829821	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1205T																					ENST00000366574.2:c.8446del	p.Asp2816ThrfsTer13	p.D2816Tfs*13	ENST00000366574	NM_001035.2	2816	Gac/ac	0	validated		damaging	
RYR2		inserm.fr	GRCh37	1	237895355	237895355	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1148T																					ENST00000366574.2:c.10945del	p.Ala3649LeufsTer19	p.A3649Lfs*19	ENST00000366574	NM_001035.2	3649	Gct/ct	0	validated		damaging	
RAB17		inserm.fr	GRCh37	2	238483667	238483667	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM399T									Valid												ENST00000264601.3:c.634del	p.His212ThrfsTer26	p.H212Tfs*26	ENST00000264601	NM_022449.3	212	Cac/ac	0	validated		damaging	
JPH4		inserm.fr	GRCh37	14	24040436	24040436	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM723T									Valid												ENST00000397118.3:c.1504delG	p.Ala502GlnfsTer8	p.A502Qfs*8	ENST00000397118	NM_032452.2	502	Gca/ca	0	validated		damaging	
ZFX		inserm.fr	GRCh37	X	24190868	24190868	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1207T																					ENST00000379177.1:c.9del	p.Asp4MetfsTer46	p.D4Mfs*46	ENST00000379177	NM_003410.3	3	gaA/ga	0	validated		damaging	
ZNF254		inserm.fr	GRCh37	19	24288792	24288792	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC302T									Valid												ENST00000357002.4:c.81del	p.Trp27CysfsTer15	p.W27Cfs*15	ENST00000357002	NM_203282.3	27	tgG/tg	0	validated		damaging	
DHRS4L1		inserm.fr	GRCh37	14	24513024	24513024	+	non_coding_transcript_exon_variant	RNA	DEL	G	-	-			CHC1556T																					ENST00000606840.1:n.365delG		*122*	ENST00000606840				0	not done		damaging	
DHRS4L1		inserm.fr	GRCh37	14	24513024	24513024	+	non_coding_transcript_exon_variant	RNA	DEL	G	-	-			CHC1719T																					ENST00000606840.1:n.365delG		*122*	ENST00000606840				0	not done		damaging	
ZNF124		inserm.fr	GRCh37	1	247319909	247319909	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T																					ENST00000340684.6:c.829delA	p.Thr277LeufsTer31	p.T277Lfs*31	ENST00000340684	NM_003431.2	277	Act/ct	0	validated		damaging	
OR1C1		inserm.fr	GRCh37	1	247921282	247921282	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1720T																					ENST00000408896.2:c.427del	p.Gln143SerfsTer2	p.Q143Sfs*2	ENST00000408896	NM_012353.2	143	Cag/ag	0	validated		damaging	
RIPK3		inserm.fr	GRCh37	14	24805566	24805566	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC437T																					ENST00000216274.5:c.1372delG	p.Val458CysfsTer9	p.V458Cfs*9	ENST00000216274	NM_006871.3	458	Gtg/tg	0	validated		damaging	
NFATC4		inserm.fr	GRCh37	14	24841806	24841806	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1061T									Valid												ENST00000413692.2:c.1545del	p.Lys516SerfsTer3	p.K516Sfs*3	ENST00000413692	NM_001198967.1	515	gtC/gt	0	validated		damaging	
IQSEC3		inserm.fr	GRCh37	12	250415	250415	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1186T																					ENST00000538872.1:c.2117del	p.Gly706AlafsTer99	p.G706Afs*99	ENST00000538872		706	gGc/gc	0	validated		damaging	
C7orf31		inserm.fr	GRCh37	7	25200833	25200833	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T																					ENST00000409280.1:c.358delA	p.Ser120ValfsTer9	p.S120Vfs*9	ENST00000409280		120	Agt/gt	0	validated		damaging	
DNMT3A		inserm.fr	GRCh37	2	25505444	25505444	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC2034T																					ENST00000264709.3:c.314del	p.Ser105ThrfsTer57	p.S105Tfs*57	ENST00000264709	NM_175629.2	105	aGc/ac	0	validated		damaging	
PAFAH1B1		inserm.fr	GRCh37	17	2569354	2569354	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM723T									Valid												ENST00000397195.5:c.162del	p.Lys54AsnfsTer15	p.K54Nfs*15	ENST00000397195	NM_000430.3	54	aaA/aa	0	validated		damaging	
PAFAH1B1		inserm.fr	GRCh37	17	2573520	2573520	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1040T																					ENST00000397195.5:c.463del	p.Asp155ThrfsTer18	p.D155Tfs*18	ENST00000397195	NM_000430.3	155	Gac/ac	0	validated		damaging	
C2orf70		inserm.fr	GRCh37	2	26802186	26802186	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC2099T																					ENST00000329615.3:c.486del	p.Lys162AsnfsTer5	p.K162Nfs*5	ENST00000329615	NM_001105519.1	162	aaG/aa	0	validated		damaging	
ARID1A		inserm.fr	GRCh37	1	27023909	27023909	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC433T									Valid												ENST00000324856.7:c.1015del	p.Ala339LeufsTer24	p.A339Lfs*24	ENST00000324856	NM_006015.4	339	Gct/ct	0	no detection		damaging	
ARID1A		inserm.fr	GRCh37	1	27024007	27024007	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1180T									Valid												ENST00000324856.7:c.1113del	p.Gln372SerfsTer19	p.Q372Sfs*19	ENST00000324856	NM_006015.4	371	ggG/gg	0	no detection		damaging	
ARID1A		inserm.fr	GRCh37	1	27105522	27105522	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1757T									Valid												ENST00000324856.7:c.5133del	p.Leu1712CysfsTer2	p.L1712Cfs*2	ENST00000324856	NM_006015.4	1711	ggG/gg	0	validated		damaging	
NUDC		inserm.fr	GRCh37	1	27250593	27250593	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1534T																					ENST00000321265.5:c.95del	p.Phe32SerfsTer76	p.F32Sfs*76	ENST00000321265	NM_006600.3	32	tTc/tc	0	validated		damaging	
POM121L2		inserm.fr	GRCh37	6	27277721	27277721	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCB109T									Valid												ENST00000444565.1:c.2229del	p.Ser744AlafsTer5	p.S744Afs*5	ENST00000444565	NM_033482.3	743	ccC/cc	0	validated		damaging	
KIAA0556		inserm.fr	GRCh37	16	27772858	27772858	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1594T																					ENST00000261588.4:c.3756del	p.Arg1253GlufsTer3	p.R1253Efs*3	ENST00000261588	NM_015202.2	1252	ccC/cc	0	validated		damaging	
SLC4A1AP		inserm.fr	GRCh37	2	27900791	27900791	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	A	-	-			CHC1603T									Valid												ENST00000326019.6:c.1763del	p.Lys588ArgfsTer24	p.K588Rfs*24	ENST00000326019	NM_018158.2	588	aAg/ag	0	validated		damaging	
ELP3		inserm.fr	GRCh37	8	27965474	27965474	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1749T																					ENST00000256398.8:c.374del	p.Gln125ArgfsTer11	p.Q125Rfs*11	ENST00000256398	NM_018091.5	125	cAg/cg	0	validated		damaging	
OCA2		inserm.fr	GRCh37	15	28000613	28000613	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCB109T									Valid												ENST00000354638.3:c.2438del	p.Gly813AlafsTer4	p.G813Afs*4	ENST00000354638	NM_000275.2	813	gGc/gc	0	validated		damaging	
SESN2		inserm.fr	GRCh37	1	28586400	28586400	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCB151T									Valid												ENST00000253063.3:c.42del	p.Tyr15ThrfsTer56	p.Y15Tfs*56	ENST00000253063	NM_031459.4	14	gaC/ga	0	validated		damaging	
BLMH		inserm.fr	GRCh37	17	28593963	28593963	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1629T																					ENST00000261714.6:c.1156del	p.Asp386MetfsTer25	p.D386Mfs*25	ENST00000261714	NM_000386.3	386	Gat/at	0	validated		damaging	
INTS9		inserm.fr	GRCh37	8	28717084	28717084	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	-	-			BCM723T									Valid												ENST00000521022.1:c.10-4del		p.X4_splice	ENST00000521022	NM_018250.3			0	validated		damaging	
OVCH1		inserm.fr	GRCh37	12	29530515	29530515	+	intron_variant	Intron	DEL	T	-	-			CHC303T									Valid												ENST00000360150.4:c.-38+3534del		*13*	ENST00000360150	NM_016570.2			0	validated		damaging	
MAZ		inserm.fr	GRCh37	16	29821005	29821005	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC2216T																					ENST00000219782.6:c.1424del	p.Leu475ArgfsTer50	p.L475Rfs*50	ENST00000219782	NM_001042539.2	475	cTg/cg	0	validated		damaging	
C16orf92		inserm.fr	GRCh37	16	30035085	30035085	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1531T																					ENST00000300575.2:c.168del	p.Thr57GlnfsTer7	p.T57Qfs*7	ENST00000300575	NM_001109660.1	56	ggG/gg	0	validated		damaging	
TTLL9		inserm.fr	GRCh37	20	30527001	30527001	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1747T																					ENST00000375938.4:c.1175del	p.Pro392LeufsTer18	p.P392Lfs*18	ENST00000375938		392	cCt/ct	0	validated		damaging	
GGCT		inserm.fr	GRCh37	7	30538475	30538475	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1725T																					ENST00000275428.4:c.367del	p.Arg123GlufsTer4	p.R123Efs*4	ENST00000275428	NM_024051.3	123	Cga/ga	0	validated		damaging	
BACH1		inserm.fr	GRCh37	21	30698577	30698577	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM723T																					ENST00000399921.1:c.432del	p.Lys144AsnfsTer22	p.K144Nfs*22	ENST00000399921	NM_206866.1	144	aaA/aa	0	validated		damaging	
TNFRSF12A		inserm.fr	GRCh37	16	3071652	3071652	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1010T																					ENST00000326577.4:c.296del	p.Leu99TrpfsTer16	p.L99Wfs*16	ENST00000326577	NM_016639.2	99	tTg/tg	0	validated		damaging	
CCDC178		inserm.fr	GRCh37	18	30913143	30913143	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T																					ENST00000383096.3:c.874delA	p.Met292TrpfsTer3	p.M292Wfs*3	ENST00000383096		292	Atg/tg	0	validated		damaging	
LIMK2		inserm.fr	GRCh37	22	31608400	31608400	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1185T																					ENST00000331728.4:c.6del	p.Ala3ArgfsTer76	p.A3Rfs*76	ENST00000331728	NM_005569.3	2	tcC/tc	0	validated		damaging	
NOTCH4		inserm.fr	GRCh37	6	32163518	32163518	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC2113T																					ENST00000375023.3:c.5708del	p.Val1903GlufsTer27	p.V1903Efs*27	ENST00000375023	NM_004557.3	1903	gTa/ga	0	validated		damaging	
SLC4A11		inserm.fr	GRCh37	20	3218308	3218308	+	intron_variant	Intron	DEL	C	-	-			CHC304T									Valid												ENST00000380059.3:c.173-74del		*58*	ENST00000380059	NM_001174090.1			0	validated		damaging	
ARHGAP5		inserm.fr	GRCh37	14	32562942	32562942	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1715T																					ENST00000345122.3:c.3067del	p.Ser1023ValfsTer29	p.S1023Vfs*29	ENST00000345122	NM_001030055.1	1023	Agt/gt	0	validated		damaging	
BIRC6		inserm.fr	GRCh37	2	32641039	32641039	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC909T																					ENST00000421745.2:c.2680del	p.Thr894ArgfsTer11	p.T894Rfs*11	ENST00000421745	NM_016252.3	894	Acg/cg	0	validated		damaging	
ZNF397		inserm.fr	GRCh37	18	32826197	32826197	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC902T																					ENST00000330501.7:c.1528del	p.Ile510TyrfsTer24	p.I510Yfs*24	ENST00000330501	NM_001135178.2	510	Ata/ta	0	not done		damaging	
SLFN5		inserm.fr	GRCh37	17	33586059	33586059	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM711T																					ENST00000299977.4:c.350del	p.Leu117CysfsTer37	p.L117Cfs*37	ENST00000299977	NM_144975.3	117	tTg/tg	0	validated		damaging	
MYH7B		inserm.fr	GRCh37	20	33587701	33587701	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC2034T									Valid												ENST00000262873.7:c.4899del	p.Asn1634ThrfsTer2	p.N1634Tfs*2	ENST00000262873	NM_020884.3	1633	gcT/gc	0	validated		damaging	
MMP24		inserm.fr	GRCh37	20	33834733	33834733	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1539T																					ENST00000246186.6:c.337del	p.Thr113LeufsTer22	p.T113Lfs*22	ENST00000246186	NM_006690.3	113	Act/ct	0	validated		damaging	
SLC45A2		inserm.fr	GRCh37	5	33963815	33963815	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1717T																					ENST00000296589.4:c.869del	p.Asn290ThrfsTer12	p.N290Tfs*12	ENST00000296589	NM_016180.3	290	aAc/ac	0	validated		damaging	
CSMD1		inserm.fr	GRCh37	8	3432552	3432552	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC2029T																					ENST00000537824.1:c.1259del	p.Gly420AlafsTer47	p.G420Afs*47	ENST00000537824	NM_033225.5	420	gGc/gc	0	validated		damaging	
CCL21		inserm.fr	GRCh37	9	34710060	34710060	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM783T																					ENST00000259607.2:c.4del	p.Ala2LeufsTer6	p.A2Lfs*6	ENST00000259607	NM_002989.3	2	Gct/ct	0	validated		damaging	
FZR1		inserm.fr	GRCh37	19	3532530	3532530	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM723T																					ENST00000395095.3:c.1124del	p.Gly375AlafsTer14	p.G375Afs*14	ENST00000395095	NM_001136198.1	375	gGc/gc	0	validated		damaging	
SOGA1		inserm.fr	GRCh37	20	35444024	35444024	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1747T																					ENST00000237536.4:c.1821del	p.Ser608ProfsTer49	p.S608Pfs*49	ENST00000237536	NM_080627.2	607	gcC/gc	0	validated		damaging	
UNC5D		inserm.fr	GRCh37	8	35541160	35541160	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC510T									Valid												ENST00000404895.2:c.666del	p.Leu223SerfsTer29	p.L223Sfs*29	ENST00000404895	NM_080872.2	222	cgG/cg	0	validated		damaging	
DDX52		inserm.fr	GRCh37	17	35988719	35988719	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	-	-			BCM723T																					ENST00000349699.2:c.748-3delT		p.X250_splice	ENST00000349699	NM_007010.3			0	validated		damaging	
AXIN1		inserm.fr	GRCh37	16	360068	360068	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	C	-	-			CHC314T									Valid												ENST00000262320.3:c.1021del	p.Asp341MetfsTer73	p.D341Mfs*73	ENST00000262320	NM_003502.3	341	Gat/at	0	validated		damaging	
AXIN1		inserm.fr	GRCh37	16	364602	364602	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC306T									Valid												ENST00000262320.3:c.960del	p.Asp320GlufsTer94	p.D320Efs*94	ENST00000262320	NM_003502.3	320	gaC/ga	0	validated		damaging	
TP73		inserm.fr	GRCh37	1	3649621	3649621	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC2216T																					ENST00000378295.4:c.1889del	p.Phe630SerfsTer124	p.F630Sfs*124	ENST00000378295	NM_005427.3	630	tTc/tc	0	validated		damaging	
CCDC169		inserm.fr	GRCh37	13	36805369	36805369	+	intron_variant	Intron	DEL	C	-	-			CHC703T																					ENST00000503173.1:c.546-3851del		*182*	ENST00000503173	NM_001198908.1			0	validated		damaging	
FAM47C		inserm.fr	GRCh37	X	37029174	37029174	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC2048T																					ENST00000358047.3:c.2691del	p.Lys898SerfsTer6	p.K898Sfs*6	ENST00000358047	NM_001013736.2	897	ctG/ct	0	validated		damaging	
C5orf42		inserm.fr	GRCh37	5	37169195	37169195	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC2113T																					ENST00000425232.2:c.6931del	p.Ile2311PhefsTer5	p.I2311Ffs*5	ENST00000425232	NM_023073.3	2311	Att/tt	0	validated		damaging	
GOLGA4		inserm.fr	GRCh37	3	37367712	37367712	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC197T									Valid												ENST00000356847.4:c.4401del	p.Trp1467Ter	p.W1467*	ENST00000356847	NM_001172713.1	1467	tgG/tg	0	validated		damaging	
IL2RB		inserm.fr	GRCh37	22	37532395	37532395	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1756T																					ENST00000216223.5:c.576del	p.Trp192Ter	p.W192*	ENST00000216223	NM_000878.3	192	tgG/tg	0	validated		damaging	
XK		inserm.fr	GRCh37	X	37587223	37587223	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM483T									Valid												ENST00000378616.3:c.843del	p.Leu283Ter	p.L283*	ENST00000378616	NM_021083.2	281	tgC/tg	0	validated		damaging	
MIEN1		inserm.fr	GRCh37	17	37885972	37885972	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM695T									Valid												ENST00000394231.3:c.230del	p.Lys77SerfsTer26	p.K77Sfs*26	ENST00000394231		77	aAg/ag	0	validated		damaging	
NME8		inserm.fr	GRCh37	7	37904023	37904023	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	A	-	-			CHC1035T									Valid												ENST00000199447.4:c.528del	p.Ile177LeufsTer8	p.I177Lfs*8	ENST00000199447	NM_016616.4	176	aaA/aa	0	validated		damaging	
P2RX1		inserm.fr	GRCh37	17	3806591	3806591	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC909T																					ENST00000225538.3:c.652del	p.Leu218SerfsTer115	p.L218Sfs*115	ENST00000225538	NM_002558.3	218	Ctc/tc	0	validated		damaging	
ZNF33A		inserm.fr	GRCh37	10	38343824	38343824	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC798T									Valid												ENST00000374618.3:c.772del	p.Asp258IlefsTer29	p.D258Ifs*29	ENST00000374618	NM_001278178.1	258	Gat/at	0	validated		damaging	
IGFBP4		inserm.fr	GRCh37	17	38609316	38609316	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM339T																					ENST00000269593.4:c.429del	p.Phe143LeufsTer14	p.F143Lfs*14	ENST00000269593	NM_001552.2	143	ttC/tt	0	validated		damaging	
DYRK1A		inserm.fr	GRCh37	21	38868438	38868438	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC898T																					ENST00000398960.2:c.1117del	p.Ile373Ter	p.I373*	ENST00000398960	NM_001396.3	373	Ata/ta	0	validated		damaging	
DYRK1A		inserm.fr	GRCh37	21	38884514	38884514	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1137T																					ENST00000398960.2:c.1972del	p.Leu658CysfsTer45	p.L658Cfs*45	ENST00000398960	NM_001396.3	658	Ctg/tg	0	validated		damaging	
ACTN4		inserm.fr	GRCh37	19	39216369	39216369	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1205T																					ENST00000252699.2:c.2016del	p.Ile672MetfsTer8	p.I672Mfs*8	ENST00000252699	NM_004924.4	672	atC/at	0	validated		damaging	
FREM2		inserm.fr	GRCh37	13	39266509	39266509	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1531T																					ENST00000280481.7:c.5028del	p.Phe1677SerfsTer2	p.F1677Sfs*2	ENST00000280481	NM_207361.4	1676	ggG/gg	0	validated		damaging	
SARS2		inserm.fr	GRCh37	19	39412084	39412084	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	G	-	-			CHC2110Tbis																					ENST00000599996.1:c.745del	p.Val250SerfsTer79	p.V250Sfs*79	ENST00000599996		249	ccC/cc	0	validated		damaging	
KIF6		inserm.fr	GRCh37	6	39580993	39580993	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM723T																					ENST00000287152.7:c.611delT	p.Leu204Ter	p.L204*	ENST00000287152	NM_145027.4	204	tTa/ta	0	validated		damaging	
KIF21A		inserm.fr	GRCh37	12	39735427	39735427	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	-	-			BCM723T																					ENST00000361418.5:c.1804-3del		p.X602_splice	ENST00000361418				0	validated		damaging	
MACF1		inserm.fr	GRCh37	1	39750067	39750067	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1717T																					ENST00000545844.1:c.1113del	p.Gly372GlufsTer10	p.G372Efs*10	ENST00000545844		371	aaA/aa	0	validated		damaging	
RAB5C		inserm.fr	GRCh37	17	40282513	40282513	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC884T									Valid												ENST00000547517.1:c.107del	p.Gly36ValfsTer30	p.G36Vfs*30	ENST00000547517	NM_001252039.1	36	gGt/gt	0	validated		damaging	
TRIT1		inserm.fr	GRCh37	1	40313737	40313737	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC909T																					ENST00000316891.5:c.736del	p.Asp246ThrfsTer11	p.D246Tfs*11	ENST00000316891	NM_017646.4	246	Gac/ac	0	validated		damaging	
CYB5D2		inserm.fr	GRCh37	17	4058127	4058127	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC433T									Valid												ENST00000301391.3:c.551del	p.Gly184AlafsTer13	p.G184Afs*13	ENST00000301391	NM_144611.3	184	gGc/gc	0	validated		damaging	
TNRC6B		inserm.fr	GRCh37	22	40661358	40661358	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM723T																					ENST00000454349.2:c.1124del	p.Asn375MetfsTer7	p.N375Mfs*7	ENST00000454349	NM_001162501.1	375	aAt/at	0	validated		damaging	
CARD6		inserm.fr	GRCh37	5	40854518	40854518	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC2115T																					ENST00000254691.5:c.3084del	p.Ala1029GlnfsTer55	p.A1029Qfs*55	ENST00000254691	NM_032587.3	1028	aaA/aa	0	validated		damaging	
ECI2		inserm.fr	GRCh37	6	4133832	4133832	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC2115T																					ENST00000380118.3:c.164del	p.Lys55ArgfsTer7	p.K55Rfs*7	ENST00000380118		55	aAg/ag	0	validated		damaging	
DSCAM		inserm.fr	GRCh37	21	41385138	41385138	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC2128T																					ENST00000400454.1:c.5862del	p.Ser1955ProfsTer31	p.S1955Pfs*31	ENST00000400454	NM_001271534.1	1954	gcC/gc	0	not done		damaging	
WBP4		inserm.fr	GRCh37	13	41639199	41639199	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1061T									Valid												ENST00000379487.3:c.127del	p.Arg43GlyfsTer31	p.R43Gfs*31	ENST00000379487	NM_007187.3	41	gcA/gc	0	validated		damaging	
RPAP1		inserm.fr	GRCh37	15	41815472	41815472	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1736T																					ENST00000304330.4:c.2517del	p.Thr840HisfsTer148	p.T840Hfs*148	ENST00000304330	NM_015540.2	839	ccC/cc	0	validated		damaging	
FOXO6		inserm.fr	GRCh37	1	41848392	41848392	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1732T																					ENST00000372591.1:c.1519del	p.Arg507GlyfsTer69	p.R507Gfs*69	ENST00000372591		507	Agg/gg	0	validated		damaging	
CIC		inserm.fr	GRCh37	19	42788905	42788905	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC801T																					ENST00000575354.2:c.49del	p.Arg17ValfsTer24	p.R17Vfs*24	ENST00000575354	NM_015125.3	17	Cgt/gt	0	validated		damaging	
CCDC13		inserm.fr	GRCh37	3	42798632	42798632	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1041T									Valid												ENST00000310232.6:c.296del	p.Lys99SerfsTer3	p.K99Sfs*3	ENST00000310232	NM_144719.3	99	aAg/ag	0	validated		damaging	
DGKH		inserm.fr	GRCh37	13	42803320	42803320	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCB167T																					ENST00000337343.4:c.3659del	p.Val1220GlyfsTer35	p.V1220Gfs*35	ENST00000337343	NM_178009.3	1220	gTg/gg	0	validated		damaging	
GDAP1L1		inserm.fr	GRCh37	20	42891876	42891876	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1530T																					ENST00000342560.5:c.554del	p.Leu185Ter	p.L185*	ENST00000342560	NM_024034.4	185	tTa/ta	0	not done		damaging	
ABCC10		inserm.fr	GRCh37	6	43411700	43411700	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM423T																					ENST00000372530.4:c.2446del	p.Gln816LysfsTer71	p.Q816Kfs*71	ENST00000372530	NM_001198934.1	816	Caa/aa	0	validated		damaging	
MAOB		inserm.fr	GRCh37	X	43702994	43702994	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC361TA									Valid												ENST00000378069.4:c.63del	p.Lys21AsnfsTer8	p.K21Nfs*8	ENST00000378069	NM_000898.4	21	aaA/aa	0	validated		damaging	
ADAMTS20		inserm.fr	GRCh37	12	43792933	43792933	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1209T																					ENST00000389420.3:c.4388del	p.Pro1463LeufsTer25	p.P1463Lfs*25	ENST00000389420	NM_025003.3	1463	cCt/ct	0	validated		damaging	
UBASH3A		inserm.fr	GRCh37	21	43857622	43857622	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM567T																					ENST00000319294.6:c.1418del	p.Ile473ThrfsTer55	p.I473Tfs*55	ENST00000319294	NM_018961.3	473	aTc/ac	0	validated		damaging	
TOPAZ1		inserm.fr	GRCh37	3	44285891	44285891	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM723T																					ENST00000309765.4:c.1893del	p.Ala632LeufsTer5	p.A632Lfs*5	ENST00000309765	NM_001145030.1	631	aaA/aa	0	validated		damaging	
NCOA5		inserm.fr	GRCh37	20	44691404	44691404	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM723T																					ENST00000290231.6:c.1275delC	p.Thr426ProfsTer19	p.T426Pfs*19	ENST00000290231	NM_020967.2	425	ccC/cc	0	validated		damaging	
EIF3J		inserm.fr	GRCh37	15	44843655	44843655	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC051T									Valid												ENST00000261868.5:c.229del	p.Ile77Ter	p.I77*	ENST00000261868	NM_003758.2	77	Ata/ta	0	validated		damaging	
CXCL12		inserm.fr	GRCh37	10	44873215	44873215	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1717T																					ENST00000395794.2:c.405del	p.Ser136LeufsTer31	p.S136Lfs*31	ENST00000395794	NM_001178134.1	135	ccC/cc	0	validated		damaging	
AIRE		inserm.fr	GRCh37	21	45710778	45710778	+	intron_variant	Intron	DEL	G	-	-			BCM723T																					ENST00000291582.5:c.880-200del		*294*	ENST00000291582	NM_000383.3			0	validated		damaging	
PPP1R13L		inserm.fr	GRCh37	19	45899895	45899895	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM723T																					ENST00000418234.2:c.620delC	p.Pro207LeufsTer17	p.P207Lfs*17	ENST00000418234	NM_001142502.1	207	cCt/ct	0	validated		damaging	
ARID2		inserm.fr	GRCh37	12	46230618	46230618	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC2098T																					ENST00000334344.6:c.867del	p.Ile289MetfsTer3	p.I289Mfs*3	ENST00000334344	NM_152641.2	289	atT/at	0	validated		damaging	
ARID2		inserm.fr	GRCh37	12	46246439	46246439	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC796T									Valid												ENST00000334344.6:c.4533del	p.Glu1511AspfsTer5	p.E1511Dfs*5	ENST00000334344	NM_152641.2	1511	gaA/ga	0	validated		damaging	
SCAF11		inserm.fr	GRCh37	12	46321475	46321475	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T																					ENST00000369367.3:c.2009delA	p.Asn670IlefsTer4	p.N670Ifs*4	ENST00000369367	NM_004719.2	670	aAt/at	0	validated		damaging	
DIP2C		inserm.fr	GRCh37	10	465031	465031	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC304T									Valid												ENST00000280886.6:c.713del	p.Asn238ThrfsTer13	p.N238Tfs*13	ENST00000280886	NM_014974.2	238	aAc/ac	0	validated		damaging	
PPP5C		inserm.fr	GRCh37	19	46890450	46890450	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1041T									Valid												ENST00000012443.4:c.1005del	p.Phe335LeufsTer15	p.F335Lfs*15	ENST00000012443	NM_006247.3	335	ttC/tt	0	validated		damaging	
SETD2		inserm.fr	GRCh37	3	47098717	47098717	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1192T																					ENST00000409792.3:c.6557del	p.Lys2186ArgfsTer62	p.K2186Rfs*62	ENST00000409792	NM_014159.6	2186	aAg/ag	0	validated		damaging	
EFCAB14		inserm.fr	GRCh37	1	47152457	47152457	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	T	-	-			CHC2215T																					ENST00000371933.3:c.1073del	p.Lys358ArgfsTer13	p.K358Rfs*13	ENST00000371933	NM_014774.2	358	aAg/ag	0	validated		damaging	
KIF9		inserm.fr	GRCh37	3	47282446	47282446	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM723T																					ENST00000335044.2:c.1769del	p.Ser590MetfsTer14	p.S590Mfs*14	ENST00000335044	NM_001134878.1	590	aGt/at	0	validated		damaging	
SYN1		inserm.fr	GRCh37	X	47436026	47436026	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1594T																					ENST00000295987.7:c.851del	p.Asn284ThrfsTer14	p.N284Tfs*14	ENST00000295987	NM_006950.3	284	aAc/ac	0	validated		damaging	
CSPG5		inserm.fr	GRCh37	3	47618882	47618882	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC2110Tbis																					ENST00000383738.2:c.634del	p.Tyr212ThrfsTer78	p.Y212Tfs*78	ENST00000383738	NM_001206945.1	212	Tac/ac	0	validated		damaging	
PKD1L1		inserm.fr	GRCh37	7	47852792	47852792	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM423T																					ENST00000289672.2:c.7273del	p.Gln2425LysfsTer3	p.Q2425Kfs*3	ENST00000289672	NM_138295.3	2425	Caa/aa	0	validated		damaging	
DHX34		inserm.fr	GRCh37	19	47882981	47882981	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T																					ENST00000328771.4:c.2721del	p.Phe907LeufsTer24	p.F907Lfs*24	ENST00000328771	NM_014681.5	907	ttT/tt	0	validated		damaging	
MAP4		inserm.fr	GRCh37	3	47898966	47898966	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM567T																					ENST00000360240.6:c.3103del	p.Val1035SerfsTer27	p.V1035Sfs*27	ENST00000360240	NM_002375.4	1035	Gtc/tc	0	validated		damaging	
CNGA1		inserm.fr	GRCh37	4	47938812	47938812	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1148T																					ENST00000402813.3:c.1906del	p.Ser636ValfsTer19	p.S636Vfs*19	ENST00000402813		636	Agt/gt	0	validated		damaging	
SEMA6D		inserm.fr	GRCh37	15	48055272	48055272	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC799T																					ENST00000316364.5:c.718del	p.Ile240SerfsTer8	p.I240Sfs*8	ENST00000316364	NM_153618.1	240	Atc/tc	0	validated		damaging	
ABCC12		inserm.fr	GRCh37	16	48117823	48117823	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1712T																					ENST00000311303.3:c.3990del	p.Lys1331ArgfsTer2	p.K1331Rfs*2	ENST00000311303	NM_033226.2	1330	ggG/gg	0	not done		damaging	
MAPK4		inserm.fr	GRCh37	18	48248313	48248313	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC909T																					ENST00000400384.2:c.697del	p.His233MetfsTer15	p.H233Mfs*15	ENST00000400384	NM_002747.3	233	Cat/at	0	validated		damaging	
OR4C5		inserm.fr	GRCh37	11	48387121	48387121	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC703T																					ENST00000319813.3:c.897del	p.Tyr300ThrfsTer8	p.Y300Tfs*8	ENST00000319813		299	atC/at	0	validated		damaging	
PLXNB1		inserm.fr	GRCh37	3	48451348	48451348	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCB231T																					ENST00000358536.4:c.5744del	p.Pro1915LeufsTer5	p.P1915Lfs*5	ENST00000358536	NM_002673.4	1915	cCt/ct	0	validated		damaging	
CACNA1G		inserm.fr	GRCh37	17	48697135	48697135	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC884T									Valid												ENST00000359106.5:c.5873del	p.Gly1958AlafsTer21	p.G1958Afs*21	ENST00000359106	NM_018896.4	1958	gGc/gc	0	validated		damaging	
ZNF114		inserm.fr	GRCh37	19	48789895	48789895	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC609T									Valid												ENST00000595607.1:c.1014del	p.Ala340ProfsTer12	p.A340Pfs*12	ENST00000595607		338	ggG/gg	0	validated		damaging	
FBN1		inserm.fr	GRCh37	15	48936917	48936917	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1624T																					ENST00000316623.5:c.50del	p.Leu17Ter	p.L17*	ENST00000316623	NM_000138.4	17	tTa/ta	0	validated		damaging	
QRICH1		inserm.fr	GRCh37	3	49114222	49114222	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1720T																					ENST00000395443.2:c.229del	p.Ala77ProfsTer169	p.A77Pfs*169	ENST00000395443	NM_198880.1	77	Gcc/cc	0	validated		damaging	
WNT1		inserm.fr	GRCh37	12	49374354	49374354	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM723T																					ENST00000293549.3:c.506del	p.Gly169AlafsTer30	p.G169Afs*30	ENST00000293549	NM_005430.3	169	gGc/gc	0	validated		damaging	
MLL2		inserm.fr	GRCh37	12	49444751	49444751	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1044T																					ENST00000301067.7:c.2715del	p.Glu905AspfsTer25	p.E905Dfs*25	ENST00000301067	NM_003482.3	905	gaA/ga	0	validated		damaging	
TRPM4		inserm.fr	GRCh37	19	49713584	49713584	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC2115T																					ENST00000252826.5:c.3250del	p.His1084ThrfsTer39	p.H1084Tfs*39	ENST00000252826	NM_017636.3	1084	Cac/ac	0	validated		damaging	
RNF123		inserm.fr	GRCh37	3	49734891	49734891	+	splice_donor_variant	Splice_Site	DEL	G	-	-			CHC1192T																					ENST00000327697.6:c.342+1del		p.X114_splice	ENST00000327697	NM_022064.3			0	validated		damaging	
RNF123		inserm.fr	GRCh37	3	49740187	49740187	+	splice_donor_variant	Splice_Site	DEL	G	-	-			CHC303T									Valid												ENST00000327697.6:c.1750+1del		p.X584_splice	ENST00000327697	NM_022064.3			0	validated		damaging	
PIH1D1		inserm.fr	GRCh37	19	49949896	49949896	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM723T																					ENST00000262265.5:c.743del	p.Gly248AlafsTer8	p.G248Afs*8	ENST00000262265	NM_017916.2	248	gGc/gc	0	validated		damaging	
ZNF232		inserm.fr	GRCh37	17	5009215	5009215	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM703T																					ENST00000250076.3:c.1239del	p.Lys413AsnfsTer51	p.K413Nfs*51	ENST00000250076	NM_014519.2	413	aaA/aa	0	validated		damaging	
RBM6		inserm.fr	GRCh37	3	50095374	50095374	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC889T																					ENST00000266022.4:c.1907del	p.Phe636SerfsTer25	p.F636Sfs*25	ENST00000266022	NM_005777.2	636	tTc/tc	0	validated		damaging	
PARP8		inserm.fr	GRCh37	5	50117114	50117114	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC912T									Valid												ENST00000281631.5:c.1736del	p.Glu579GlyfsTer7	p.E579Gfs*7	ENST00000281631	NM_024615.3	579	gAg/gg	0	validated		damaging	
RCBTB1		inserm.fr	GRCh37	13	50129731	50129731	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC794T									Valid												ENST00000378302.2:c.523del	p.Thr175GlnfsTer9	p.T175Qfs*9	ENST00000378302	NM_018191.3	175	Aca/ca	0	validated		damaging	
PARP8		inserm.fr	GRCh37	5	50137850	50137850	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC2358T																					ENST00000281631.5:c.2513del	p.Gly838AlafsTer9	p.G838Afs*9	ENST00000281631	NM_024615.3	838	gGc/gc	0	validated		damaging	
NCKAP5L		inserm.fr	GRCh37	12	50189398	50189398	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1739T																					ENST00000335999.6:c.2245del	p.Ala749ProfsTer86	p.A749Pfs*86	ENST00000335999	NM_001037806.3	749	Gcc/cc	0	validated		damaging	
CRELD2		inserm.fr	GRCh37	22	50315330	50315330	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC2048T																					ENST00000404488.3:c.513del	p.Tyr172ThrfsTer70	p.Y172Tfs*70	ENST00000404488	NM_001135101.1	171	ggG/gg	0	validated		damaging	
USP50		inserm.fr	GRCh37	15	50793033	50793033	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	T	-	-			CHC1053T									Valid												ENST00000532404.1:c.938del	p.Asn313ThrfsTer69	p.N313Tfs*69	ENST00000532404	NM_203494.4	313	aAc/ac	0	validated		damaging	
KLK3		inserm.fr	GRCh37	19	51361840	51361840	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM723T																					ENST00000326003.2:c.619del	p.Ser207AlafsTer72	p.S207Afs*72	ENST00000326003	NM_001030047.1	207	Agc/gc	0	validated		damaging	
CYP19A1		inserm.fr	GRCh37	15	51504530	51504530	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM759T																					ENST00000396402.1:c.1250del	p.Asn417IlefsTer29	p.N417Ifs*29	ENST00000396402	NM_000103.3	417	aAt/at	0	validated		damaging	
RAD54L2		inserm.fr	GRCh37	3	51691608	51691608	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1035T									Valid												ENST00000409535.2:c.3239del	p.Pro1080LeufsTer147	p.P1080Lfs*147	ENST00000409535	NM_015106.2	1080	cCt/ct	0	validated		damaging	
RABEP1		inserm.fr	GRCh37	17	5235262	5235262	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1207T																					ENST00000262477.6:c.182del	p.Asn61MetfsTer43	p.N61Mfs*43	ENST00000262477	NM_004703.4	61	aAt/at	0	validated		damaging	
BAP1		inserm.fr	GRCh37	3	52443600	52443600	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC794T									Valid												ENST00000460680.1:c.92del	p.Glu31GlyfsTer41	p.E31Gfs*41	ENST00000460680	NM_004656.3	31	gAg/gg	0	validated		damaging	
PBRM1		inserm.fr	GRCh37	3	52643711	52643711	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM399T									Valid												ENST00000394830.3:c.2185del	p.Val729SerfsTer2	p.V729Sfs*2	ENST00000394830	NM_018313.4	729	Gtc/tc	0	validated		damaging	
PROKR2		inserm.fr	GRCh37	20	5283292	5283292	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC429T									Valid												ENST00000546004.1:c.549del	p.Ile184LeufsTer56	p.I184Lfs*56	ENST00000546004		183	ctC/ct	0	validated		damaging	
ZNF600		inserm.fr	GRCh37	19	53268984	53268984	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC614T									Valid												ENST00000338230.3:c.2025del	p.Phe675LeufsTer7	p.F675Lfs*7	ENST00000338230	NM_198457.2	675	ttT/tt	0	validated		damaging	
MAP3K12		inserm.fr	GRCh37	12	53875769	53875769	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1065T									Valid												ENST00000547035.1:c.2538del	p.Ser847AlafsTer?	p.S847Afs*?	ENST00000547035		846	Ccc/cc	0	validated		damaging	
PSME4		inserm.fr	GRCh37	2	54122825	54122825	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1040T																					ENST00000404125.1:c.3737del	p.Asn1246IlefsTer57	p.N1246Ifs*57	ENST00000404125	NM_014614.2	1246	aAt/at	0	validated		damaging	
FAM120C		inserm.fr	GRCh37	X	54209324	54209324	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1736T																					ENST00000375180.2:c.308del	p.Pro103LeufsTer94	p.P103Lfs*94	ENST00000375180	NM_017848.4	103	cCt/ct	0	validated		damaging	
OR4C11		inserm.fr	GRCh37	11	55371338	55371338	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1763T																					ENST00000302231.4:c.512del	p.Leu171Ter	p.L171*	ENST00000302231	NM_001004700.2	171	tTg/tg	0	validated		damaging	
RP1		inserm.fr	GRCh37	8	55542467	55542467	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC2099T																					ENST00000220676.1:c.6025del	p.Arg2009GlufsTer7	p.R2009Efs*7	ENST00000220676	NM_006269.1	2009	Aga/ga	0	validated		damaging	
DYX1C1		inserm.fr	GRCh37	15	55759242	55759242	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T																					ENST00000321149.3:c.523delA	p.Ile175PhefsTer21	p.I175Ffs*21	ENST00000321149	NM_130810.3	175	Att/tt	0	validated		damaging	
DYNLL2		inserm.fr	GRCh37	17	56166557	56166557	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1725T																					ENST00000579991.2:c.188del	p.Gly63AlafsTer32	p.G63Afs*32	ENST00000579991	NM_080677.2	63	Ggc/gc	0	validated		damaging	
SETD9		inserm.fr	GRCh37	5	56207144	56207144	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC253T																					ENST00000285947.2:c.249del	p.Lys83AsnfsTer15	p.K83Nfs*15	ENST00000285947	NM_153706.3	83	Aaa/aa	0	validated		damaging	
ERC2		inserm.fr	GRCh37	3	56330200	56330200	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T																					ENST00000288221.6:c.921del	p.Lys307AsnfsTer38	p.K307Nfs*38	ENST00000288221	NM_015576.1	307	aaA/aa	0	validated		damaging	
PDCL2		inserm.fr	GRCh37	4	56422779	56422779	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1186T																					ENST00000295645.4:c.671del	p.Asn224ThrfsTer28	p.N224Tfs*28	ENST00000295645	NM_152401.2	224	aAc/ac	0	validated		damaging	
UBQLN2		inserm.fr	GRCh37	X	56591842	56591842	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC896T																					ENST00000338222.5:c.1536del	p.Ile513LeufsTer4	p.I513Lfs*4	ENST00000338222	NM_013444.3	512	ccC/cc	0	validated		damaging	
TIMELESS		inserm.fr	GRCh37	12	56827672	56827672	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC734T																					ENST00000553532.1:c.136del	p.Asp46MetfsTer40	p.D46Mfs*40	ENST00000553532		46	Gat/at	0	validated		damaging	
NLRC5		inserm.fr	GRCh37	16	57063696	57063696	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM339T																					ENST00000262510.6:c.2255del	p.Asn752ThrfsTer9	p.N752Tfs*9	ENST00000262510	NM_032206.4	752	aAc/ac	0	validated		damaging	
ASB14		inserm.fr	GRCh37	3	57312513	57312513	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC912T									Valid												ENST00000487349.1:c.1323del	p.Asn442ThrfsTer40	p.N442Tfs*40	ENST00000487349	NM_001142733.2	441	ctG/ct	0	validated		damaging	
RDH16		inserm.fr	GRCh37	12	57345923	57345923	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1750T																					ENST00000398138.3:c.844del	p.Ser282GlnfsTer13	p.S282Qfs*13	ENST00000398138	NM_003708.3	282	Tca/ca	0	not done		damaging	
CLTC		inserm.fr	GRCh37	17	57746146	57746146	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC303T									Valid												ENST00000269122.3:c.2137del	p.Tyr713IlefsTer32	p.Y713Ifs*32	ENST00000269122	NM_004859.3	713	Tat/at	0	validated		damaging	
KIFC3		inserm.fr	GRCh37	16	57849544	57849544	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1594T																					ENST00000564282.1:c.41del	p.Asn14ThrfsTer2	p.N14Tfs*2	ENST00000564282	NM_001278081.1	13	Aaa/aa	0	validated		damaging	
OR9I1		inserm.fr	GRCh37	11	57886072	57886072	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC302T									Valid												ENST00000302610.1:c.845del	p.Ile282ThrfsTer4	p.I282Tfs*4	ENST00000302610	NM_001005211.1	282	aTc/ac	0	validated		damaging	
DCTN2		inserm.fr	GRCh37	12	57926804	57926804	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	T	-	-			CHC1742T																					ENST00000434715.3:c.752del	p.Asn251IlefsTer16	p.N251Ifs*16	ENST00000434715	NM_006400.4	251	aAt/at	0	validated		damaging	
FLNB		inserm.fr	GRCh37	3	58120403	58120403	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC614T									Valid												ENST00000490882.1:c.4668del	p.Gly1557AlafsTer31	p.G1557Afs*31	ENST00000490882	NM_001164317.1	1556	ccC/cc	0	validated		damaging	
ZNF551		inserm.fr	GRCh37	19	58199263	58199263	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1714T																					ENST00000282296.5:c.1620del	p.Phe540LeufsTer144	p.F540Lfs*144	ENST00000282296		540	ttT/tt	0	not done		damaging	
RNF152		inserm.fr	GRCh37	18	59483325	59483325	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCB307T									Valid												ENST00000312828.3:c.372del	p.Ser125AlafsTer9	p.S125Afs*9	ENST00000312828	NM_173557.2	124	ggG/gg	0	validated		damaging	
PRKDC		inserm.fr	GRCh37	8	60263	60263	+		IGR	DEL	A	-	-			CHC1747T																												0	validated		damaging	
JAKMIP1		inserm.fr	GRCh37	4	6028001	6028001	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1714T																					ENST00000409021.3:c.2450del	p.Leu817CysfsTer9	p.L817Cfs*9	ENST00000409021	NM_001099433.1	817	tTg/tg	0	not done		damaging	
C1orf87		inserm.fr	GRCh37	1	60499238	60499238	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1629T																					ENST00000371201.3:c.939del	p.Thr314GlnfsTer8	p.T314Qfs*8	ENST00000371201	NM_152377.2	313	agG/ag	0	validated		damaging	
CCDC86		inserm.fr	GRCh37	11	60609874	60609874	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM723T																					ENST00000227520.5:c.277del	p.Gln93SerfsTer53	p.Q93Sfs*53	ENST00000227520	NM_024098.3	93	Cag/ag	0	validated		damaging	
RORA		inserm.fr	GRCh37	15	60797803	60797803	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1052T									Valid												ENST00000261523.5:c.945del	p.Lys315AsnfsTer10	p.K315Nfs*10	ENST00000261523	NM_134260.2	315	aaA/aa	0	validated		damaging	
USP34		inserm.fr	GRCh37	2	61566796	61566796	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC736T									Valid												ENST00000398571.2:c.2521del	p.Gln841AsnfsTer26	p.Q841Nfs*26	ENST00000398571	NM_014709.3	841	Caa/aa	0	validated		damaging	
LIMD2		inserm.fr	GRCh37	17	61776280	61776280	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1598T																					ENST00000259006.3:c.103del	p.Gln35ArgfsTer2	p.Q35Rfs*2	ENST00000259006	NM_030576.3	35	Cag/ag	0	validated		damaging	
NFIA		inserm.fr	GRCh37	1	61849019	61849019	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1725T																					ENST00000371189.4:c.1192del	p.Val398SerfsTer44	p.V398Sfs*44	ENST00000371189	NM_001145512.1	398	Gtc/tc	0	validated		damaging	
CDH8		inserm.fr	GRCh37	16	61851547	61851547	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC912T									Valid												ENST00000577390.1:c.1113del	p.Phe372LeufsTer35	p.F372Lfs*35	ENST00000577390	NM_001796.4	371	ccC/cc	0	validated		damaging	
CHD5		inserm.fr	GRCh37	1	6212502	6212502	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM723T									Valid												ENST00000262450.3:c.840del	p.Ile281SerfsTer185	p.I281Sfs*185	ENST00000262450	NM_015557.2	280	ggG/gg	0	validated		damaging	
VPS13C		inserm.fr	GRCh37	15	62169237	62169237	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM671T																					ENST00000261517.5:c.10159del	p.Ile3387PhefsTer24	p.I3387Ffs*24	ENST00000261517	NM_020821.2	3387	Att/tt	0	validated		damaging	
PTPRG		inserm.fr	GRCh37	3	62204534	62204534	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM723T																					ENST00000474889.1:c.2165del	p.Asn722ThrfsTer5	p.N722Tfs*5	ENST00000474889	NM_002841.3	722	aAc/ac	0	validated		damaging	
AHNAK		inserm.fr	GRCh37	11	62292887	62292887	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1097T																					ENST00000378024.4:c.9002del	p.Gly3001ValfsTer20	p.G3001Vfs*20	ENST00000378024	NM_001620.2	3001	gGt/gt	0	validated		damaging	
RPL22		inserm.fr	GRCh37	1	6257785	6257785	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T																					ENST00000234875.4:c.44delA	p.Lys15ArgfsTer5	p.K15Rfs*5	ENST00000234875	NM_000983.3	15	aAg/ag	0	validated		damaging	
KANK4		inserm.fr	GRCh37	1	62740586	62740586	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1774T																					ENST00000371153.4:c.190del	p.Ala64ProfsTer62	p.A64Pfs*62	ENST00000371153	NM_181712.4	64	Gcc/cc	0	validated		damaging	
MON2		inserm.fr	GRCh37	12	62926266	62926266	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1700T																					ENST00000393632.2:c.1449del	p.Tyr483Ter	p.Y483*	ENST00000393632	NM_001278472.1	483	taC/ta	0	validated		damaging	
LPHN3		inserm.fr	GRCh37	4	62936596	62936596	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC892T																					ENST00000514591.1:c.4380del	p.Gly1461AspfsTer12	p.G1461Dfs*12	ENST00000514591		1460	aaA/aa	0	validated		damaging	
RGS9		inserm.fr	GRCh37	17	63156671	63156671	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1714T																					ENST00000262406.9:c.330del	p.Thr111ProfsTer37	p.T111Pfs*37	ENST00000262406	NM_003835.3	110	ccC/cc	0	not done		damaging	
FAM220A		inserm.fr	GRCh37	7	6370614	6370614	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1751T																					ENST00000313324.4:c.172del	p.Ser58ValfsTer8	p.S58Vfs*8	ENST00000313324	NM_001037163.1	58	Agt/gt	0	validated		damaging	
THOC7		inserm.fr	GRCh37	3	63824081	63824081	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T																					ENST00000295899.5:c.232del	p.Met78TrpfsTer11	p.M78Wfs*11	ENST00000295899	NM_025075.2	78	Atg/tg	0	validated		damaging	
ESRRA		inserm.fr	GRCh37	11	64082265	64082265	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1154T																					ENST00000405666.1:c.624del	p.Lys208AsnfsTer83	p.K208Nfs*83	ENST00000405666	NM_001282450.1	208	aaG/aa	0	validated		damaging	
GEMIN4		inserm.fr	GRCh37	17	650908	650908	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1183T																					ENST00000319004.5:c.375del	p.Phe125LeufsTer5	p.F125Lfs*5	ENST00000319004	NM_015721.2	125	ttT/tt	0	validated		damaging	
JAK1		inserm.fr	GRCh37	1	65306997	65306997	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T									Valid												ENST00000342505.4:c.2580delA	p.Lys860AsnfsTer16	p.K860Nfs*16	ENST00000342505	NM_002227.2	860	aaA/aa	0	validated		damaging	
AMZ2		inserm.fr	GRCh37	17	66251952	66251952	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1725T																					ENST00000359904.3:c.862del	p.Leu288PhefsTer18	p.L288Ffs*18	ENST00000359904	NM_016627.4	288	Ctt/tt	0	validated		damaging	
SLC25A26		inserm.fr	GRCh37	3	66287127	66287127	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	-	-			BCM723T																					ENST00000354883.6:c.190+8del		p.X64_splice	ENST00000354883	NM_173471.3_dupl9			0	validated		damaging	
NCAPD2		inserm.fr	GRCh37	12	6635659	6635659	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM501T																					ENST00000315579.5:c.2612del	p.Ala871GlufsTer2	p.A871Efs*2	ENST00000315579	NM_014865.3	871	gCa/ga	0	validated		damaging	
CCDC87		inserm.fr	GRCh37	11	66359101	66359101	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1191T																					ENST00000333861.3:c.1386del	p.Gly463GlufsTer36	p.G463Efs*36	ENST00000333861	NM_018219.2	462	gcC/gc	0	not done		damaging	
PDE7A		inserm.fr	GRCh37	8	66753740	66753740	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM337T									Valid												ENST00000401827.3:c.4del	p.Glu2LysfsTer65	p.E2Kfs*65	ENST00000401827	NM_001242318.2	2	Gaa/aa	0	validated		damaging	
FSTL3		inserm.fr	GRCh37	19	681387	681387	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM723T																					ENST00000166139.4:c.560del	p.Thr187ArgfsTer145	p.T187Rfs*145	ENST00000166139	NM_005860.2	187	aCg/ag	0	validated		damaging	
ESRP2		inserm.fr	GRCh37	16	68264745	68264745	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	T	-	-			CHC1545T																					ENST00000473183.2:c.1897del	p.Ser633AlafsTer45	p.S633Afs*45	ENST00000473183		633	Agc/gc	0	validated		damaging	
PPP3R1		inserm.fr	GRCh37	2	68413787	68413787	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	-	-			BCM723T																					ENST00000234310.3:c.281-3delT		p.X94_splice	ENST00000234310	NM_000945.3			0	validated		damaging	
MDM1		inserm.fr	GRCh37	12	68689100	68689100	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1717T																					ENST00000303145.7:c.2079del	p.Leu694SerfsTer25	p.L694Sfs*25	ENST00000303145	NM_017440.4	693	agT/ag	0	validated		damaging	
IGHMBP2		inserm.fr	GRCh37	11	68704155	68704155	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1738T																					ENST00000255078.3:c.2207del	p.Phe736SerfsTer26	p.F736Sfs*26	ENST00000255078	NM_002180.2	736	tTc/tc	0	not done		damaging	
ZFP36L1		inserm.fr	GRCh37	14	69257124	69257124	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM723T																					ENST00000439696.2:c.143del	p.Gly48AlafsTer32	p.G48Afs*32	ENST00000439696	NM_004926.3	48	gGc/gc	0	validated		damaging	
AAK1		inserm.fr	GRCh37	2	69757275	69757275	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	-	-			BCM723T																					ENST00000409085.4:c.739-3delT		p.X247_splice	ENST00000409085	NM_014911.3			0	validated		damaging	
SUPV3L1		inserm.fr	GRCh37	10	70954986	70954986	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1749T																					ENST00000359655.4:c.896del	p.Pro299GlnfsTer12	p.P299Qfs*12	ENST00000359655	NM_003171.3	299	cCa/ca	0	validated		damaging	
HYDIN		inserm.fr	GRCh37	16	71009068	71009068	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1739T																					ENST00000393567.2:c.4743del	p.Phe1581LeufsTer62	p.F1581Lfs*62	ENST00000393567	NM_001270974.1	1581	ttC/tt	0	validated		damaging	
PTPRB		inserm.fr	GRCh37	12	71029502	71029502	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1152T																					ENST00000334414.6:c.400del	p.Asp134MetfsTer26	p.D134Mfs*26	ENST00000334414	NM_001109754.2	134	Gat/at	0	validated		damaging	
KANK1		inserm.fr	GRCh37	9	711661	711661	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1081T																					ENST00000382303.1:c.895del	p.Arg299GlyfsTer7	p.R299Gfs*7	ENST00000382303	NM_001256876.1	299	Agg/gg	0	validated		damaging	
ENAM		inserm.fr	GRCh37	4	71510452	71510452	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1209T																					ENST00000396073.3:c.3309del	p.Glu1103AspfsTer6	p.E1103Dfs*6	ENST00000396073	NM_031889.2	1103	gaA/ga	0	validated		damaging	
PCNX		inserm.fr	GRCh37	14	71540470	71540470	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1044T																					ENST00000304743.2:c.5061del	p.Gln1688LysfsTer27	p.Q1688Kfs*27	ENST00000304743	NM_014982.2	1687	ctT/ct	0	validated		damaging	
C18orf63		inserm.fr	GRCh37	18	72020514	72020514	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM723T																					ENST00000579455.1:c.1018delA	p.Met340CysfsTer6	p.M340Cfs*6	ENST00000579455	NM_001174123.1	338	Aaa/aa	0	validated		damaging	
RIMS1		inserm.fr	GRCh37	6	72892561	72892561	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1545T																					ENST00000521978.1:c.1387del	p.Glu463SerfsTer39	p.E463Sfs*39	ENST00000521978	NM_014989.5	463	Gag/ag	0	validated		damaging	
PTGR3		inserm.fr	GRCh37	18	72913412	72913412	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T																					ENST00000322342.3:c.1093del	p.Ile365LeufsTer2	p.I365Lfs*2	ENST00000322342	NM_175907.4	365	Att/tt	0	validated		damaging	
TRPA1		inserm.fr	GRCh37	8	72969255	72969255	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	-	-			BCM723T																					ENST00000262209.4:c.1094-3delT		p.X365_splice	ENST00000262209	NM_007332.2			0	validated		damaging	
RGS6		inserm.fr	GRCh37	14	72976871	72976871	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC2141T																					ENST00000553525.1:c.975del	p.Ser326AlafsTer5	p.S326Afs*5	ENST00000553525	NM_001204424.1	325	ccC/cc	0	validated		damaging	
ZFHX3		inserm.fr	GRCh37	16	72992254	72992254	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM543T																					ENST00000268489.5:c.1791del	p.Asp598ThrfsTer62	p.D598Tfs*62	ENST00000268489	NM_006885.3	597	aaA/aa	0	validated		damaging	
RIMS1		inserm.fr	GRCh37	6	73100381	73100381	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1041T									Valid												ENST00000521978.1:c.4449del	p.Arg1483SerfsTer21	p.R1483Sfs*21	ENST00000521978	NM_014989.5	1483	aGg/ag	0	validated		damaging	
CLDN4		inserm.fr	GRCh37	7	73246068	73246068	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM723T																					ENST00000435050.1:c.537del	p.Leu180CysfsTer115	p.L180Cfs*115	ENST00000435050		179	ggG/gg	0	validated		damaging	
LIMK1		inserm.fr	GRCh37	7	73497441	73497441	+	upstream_gene_variant	5'Flank	DEL	T	-	-			BCM711T																								ENST00000336180	NM_002314.3			0	validated		damaging	
C2orf78		inserm.fr	GRCh37	2	74040907	74040907	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCB157T																					ENST00000409561.1:c.401del	p.Ser134ThrfsTer3	p.S134Tfs*3	ENST00000409561	NM_001080474.1	134	aGc/ac	0	validated		damaging	
ALB		inserm.fr	GRCh37	4	74275071	74275071	+	splice_acceptor_variant	Splice_Site	DEL	G	-	-			CHC2112T																					ENST00000295897.4:c.483-1del		p.X161_splice	ENST00000295897	NM_000477.5			0	validated		damaging	
ALB		inserm.fr	GRCh37	4	74285295	74285295	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1010T																					ENST00000295897.4:c.1724del	p.Phe575SerfsTer5	p.F575Sfs*5	ENST00000295897	NM_000477.5	575	tTc/tc	0	validated		damaging	
ALB		inserm.fr	GRCh37	4	74286008	74286008	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM337T									Valid												ENST00000295897.4:c.1823del	p.Gly608AlafsTer35	p.G608Afs*35	ENST00000295897	NM_000477.5	608	gGc/gc	0	validated		damaging	
POLD3		inserm.fr	GRCh37	11	74336617	74336617	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	A	-	-			BCM723T																					ENST00000263681.2:c.898del	p.Arg300GlyfsTer5	p.R300Gfs*5	ENST00000263681	NM_006591.2	300	Agg/gg	0	validated		damaging	
ANKRD31		inserm.fr	GRCh37	5	74484349	74484349	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T																					ENST00000506364.2:c.1533del	p.Gly512ValfsTer20	p.G512Vfs*20	ENST00000506364		511	aaA/aa	0	validated		damaging	
CCDC33		inserm.fr	GRCh37	15	74572322	74572322	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1044T																					ENST00000398814.3:c.782del	p.Pro261GlnfsTer37	p.P261Qfs*37	ENST00000398814	NM_025055.4	260	Ccc/cc	0	validated		damaging	
CCDC33		inserm.fr	GRCh37	15	74572326	74572326	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1044T																					ENST00000398814.3:c.782del	p.Pro261GlnfsTer37	p.P261Qfs*37	ENST00000398814	NM_025055.4	261	cCa/ca	0	validated		damaging	
CXCL6		inserm.fr	GRCh37	4	74702940	74702940	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1566T																					ENST00000226317.5:c.263del	p.Lys88SerfsTer12	p.K88Sfs*12	ENST00000226317	NM_002993.3	88	aAg/ag	0	validated		damaging	
MLKL		inserm.fr	GRCh37	16	74708973	74708973	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1052T									Valid												ENST00000308807.7:c.1266del	p.Lys422AsnfsTer5	p.K422Nfs*5	ENST00000308807	NM_152649.2	422	aaG/aa	0	validated		damaging	
JPH1		inserm.fr	GRCh37	8	75233223	75233223	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM723T																					ENST00000342232.4:c.300del	p.Cys101AlafsTer54	p.C101Afs*54	ENST00000342232	NM_020647.2	100	ctG/ct	0	validated		damaging	
MLH3		inserm.fr	GRCh37	14	75514768	75514768	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC205T									Valid												ENST00000355774.2:c.1591del	p.Ser531ValfsTer12	p.S531Vfs*12	ENST00000355774	NM_001040108.1	531	Agt/gt	0	validated		damaging	
TMED10		inserm.fr	GRCh37	14	75601712	75601712	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	-	-			BCM723T									Valid												ENST00000303575.4:c.539-3del		p.X180_splice	ENST00000303575	NM_006827.5			0	validated		damaging	
TP53		inserm.fr	GRCh37	17	7578447	7578447	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1180T																					ENST00000269305.4:c.483del	p.Ile162SerfsTer8	p.I162Sfs*8	ENST00000269305	NM_001126112.2	161	gcC/gc	0	validated		damaging	
TP53		inserm.fr	GRCh37	17	7579414	7579414	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM483T									Valid												ENST00000269305.4:c.273del	p.Trp91CysfsTer32	p.W91Cfs*32	ENST00000269305	NM_001126112.2	91	tgG/tg	0	validated		damaging	
TBC1D4		inserm.fr	GRCh37	13	75911179	75911179	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	-	-			BCM723T									Valid												ENST00000377636.3:c.1612-3delT		p.X538_splice	ENST00000377636	NM_014832.2			0	validated		damaging	
ODF3L1		inserm.fr	GRCh37	15	76018400	76018400	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	G	-	-			CHC1715T																					ENST00000332145.2:c.231del	p.Met78TrpfsTer17	p.M78Wfs*17	ENST00000332145	NM_175881.3	77	cgG/cg	0	validated		damaging	
CHD3		inserm.fr	GRCh37	17	7798771	7798771	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM723T																					ENST00000380358.4:c.1795del	p.Arg599ValfsTer16	p.R599Vfs*16	ENST00000380358	NM_001005271.2	599	Cgt/gt	0	validated		damaging	
CAMTA1		inserm.fr	GRCh37	1	7811336	7811336	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM723T																					ENST00000303635.7:c.4767del	p.Lys1589AsnfsTer33	p.K1589Nfs*33	ENST00000303635	NM_015215.2	1589	aaA/aa	0	validated		damaging	
NAV3		inserm.fr	GRCh37	12	78392245	78392245	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC2128T																					ENST00000536525.2:c.869del	p.Gly290GlufsTer16	p.G290Efs*16	ENST00000536525	NM_014903.4	290	gGa/ga	0	not done		damaging	
EDNRB		inserm.fr	GRCh37	13	78492430	78492430	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCB157T																					ENST00000377211.4:c.549del	p.Ile184SerfsTer30	p.I184Sfs*30	ENST00000377211	NM_001201397.1	183	ccC/cc	0	validated		damaging	
NRXN3		inserm.fr	GRCh37	14	78710020	78710020	+	frameshift_variant,NMD_transcript_variant	Frame_Shift_Del	DEL	A	-	-			CHC1736T									Valid												ENST00000554738.1:c.584del	p.Gln195ArgfsTer48	p.Q195Rfs*48	ENST00000554738		195	cAg/cg	0	validated		damaging	
GUCY2D		inserm.fr	GRCh37	17	7918686	7918686	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1741T																					ENST00000254854.4:c.2810del	p.Leu937ArgfsTer41	p.L937Rfs*41	ENST00000254854	NM_000180.3	937	cTg/cg	0	validated		damaging	
SLC25A22		inserm.fr	GRCh37	11	792068	792068	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	C	-	-			BCM269T									Valid												ENST00000320230.5:c.819del	p.Lys274ArgfsTer12	p.K274Rfs*12	ENST00000320230	NM_024698.5	273	agG/ag	0	validated		damaging	
NLRP10		inserm.fr	GRCh37	11	7981542	7981542	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC121T									Valid												ENST00000328600.2:c.1617del	p.Cys540ValfsTer2	p.C540Vfs*2	ENST00000328600	NM_176821.3	539	ccC/cc	0	validated		damaging	
NOTUM		inserm.fr	GRCh37	17	79914942	79914942	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1704T																					ENST00000409678.3:c.704del	p.Gly235AlafsTer6	p.G235Afs*6	ENST00000409678	NM_178493.5	235	gGc/gc	0	validated		damaging	
ERRFI1		inserm.fr	GRCh37	1	8073785	8073785	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1751T																					ENST00000377482.5:c.874del	p.Arg292AspfsTer3	p.R292Dfs*3	ENST00000377482	NM_018948.3	292	Aga/ga	0	validated		damaging	
ERRFI1		inserm.fr	GRCh37	1	8074255	8074255	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC2034T																					ENST00000377482.5:c.404delA	p.Asn135ThrfsTer40	p.N135Tfs*40	ENST00000377482	NM_018948.3	135	aAc/ac	0	validated		damaging	
TPD52		inserm.fr	GRCh37	8	80950474	80950474	+	splice_region_variant,intron_variant	Splice_Region	DEL	A	-	-			BCM723T																					ENST00000379097.3:c.556-4delT		p.X186_splice	ENST00000379097	NM_001025252.1			0	validated		damaging	
CTC1		inserm.fr	GRCh37	17	8133616	8133616	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC2034T																					ENST00000315684.8:c.2929del	p.Ser977ProfsTer19	p.S977Pfs*19	ENST00000315684	NM_025099.5	977	Tcc/cc	0	validated		damaging	
LPHN2		inserm.fr	GRCh37	1	82432183	82432183	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1595T																					ENST00000319517.6:c.2188del	p.Arg730ValfsTer7	p.R730Vfs*7	ENST00000319517	NM_012302.2	730	Cgt/gt	0	validated		damaging	
LPHN2		inserm.fr	GRCh37	1	82434911	82434911	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1028T																					ENST00000319517.6:c.2522del	p.Gly841GlufsTer45	p.G841Efs*45	ENST00000319517	NM_012302.2	841	gGa/ga	0	validated		damaging	
PCLO		inserm.fr	GRCh37	7	82584162	82584162	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC1079T																					ENST00000333891.9:c.6107del	p.Ile2036ThrfsTer7	p.I2036Tfs*7	ENST00000333891	NM_033026.5	2036	aTc/ac	0	validated		damaging	
SEC31A		inserm.fr	GRCh37	4	83785565	83785565	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T																					ENST00000395310.2:c.1384delA	p.Ile462LeufsTer16	p.I462Lfs*16	ENST00000395310	NM_001077207.2	462	Att/tt	0	validated		damaging	
ACOX3		inserm.fr	GRCh37	4	8418188	8418188	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM723T																					ENST00000356406.5:c.61del	p.Leu21SerfsTer57	p.L21Sfs*57	ENST00000356406	NM_003501.2	21	Ctc/tc	0	validated		damaging	
HPSE		inserm.fr	GRCh37	4	84231938	84231938	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCB109T									Valid												ENST00000405413.2:c.779del	p.Asn260MetfsTer20	p.N260Mfs*20	ENST00000405413	NM_006665.5	260	aAt/at	0	validated		damaging	
HELQ		inserm.fr	GRCh37	4	84347222	84347222	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC793T									Valid												ENST00000295488.3:c.2700del	p.Glu900AspfsTer4	p.E900Dfs*4	ENST00000295488	NM_133636.2	900	gaA/ga	0	validated		damaging	
DNAH6		inserm.fr	GRCh37	2	84904193	84904193	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1592T																					ENST00000389394.3:c.6677del	p.Phe2226SerfsTer18	p.F2226Sfs*18	ENST00000389394	NM_001370.1	2226	tTc/tc	0	not done		damaging	
GSE1		inserm.fr	GRCh37	16	85682297	85682297	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM723T																					ENST00000253458.7:c.366del	p.Val123TrpfsTer2	p.V123Wfs*2	ENST00000253458	NM_014615.3	122	ccC/cc	0	validated		damaging	
GSE1		inserm.fr	GRCh37	16	85701893	85701893	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM723T																					ENST00000253458.7:c.3278del	p.Pro1093GlnfsTer45	p.P1093Qfs*45	ENST00000253458	NM_014615.3	1093	cCa/ca	0	validated		damaging	
SYNCRIP		inserm.fr	GRCh37	6	86328579	86328579	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1751T																					ENST00000369622.3:c.1237del	p.Arg413GlyfsTer149	p.R413Gfs*149	ENST00000369622	NM_001159675.1	413	Agg/gg	0	validated		damaging	
ARHGAP24		inserm.fr	GRCh37	4	86916316	86916316	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC794T									Valid												ENST00000395184.1:c.1509del	p.Trp503CysfsTer7	p.W503Cfs*7	ENST00000395184	NM_001025616.2	503	tgG/tg	0	validated		damaging	
PTPN13		inserm.fr	GRCh37	4	87684140	87684140	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCB109T									Valid												ENST00000436978.1:c.3814del	p.Gln1272LysfsTer15	p.Q1272Kfs*15	ENST00000436978	NM_080685.2	1272	Caa/aa	0	validated		damaging	
SLC10A6		inserm.fr	GRCh37	4	87754485	87754485	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC2215T																					ENST00000273905.6:c.470del	p.Asn157IlefsTer9	p.N157Ifs*9	ENST00000273905	NM_197965.2	157	aAt/at	0	validated		damaging	
ZNF292		inserm.fr	GRCh37	6	87928342	87928342	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC097T																					ENST00000369577.3:c.431del	p.Gly144AlafsTer8	p.G144Afs*8	ENST00000369577	NM_015021.1	144	gGc/gc	0	validated		damaging	
ABCG2		inserm.fr	GRCh37	4	89042831	89042831	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1534T																					ENST00000237612.3:c.645del	p.Leu216Ter	p.L216*	ENST00000237612	NM_004827.2	215	ggC/gg	0	validated		damaging	
EPHA3		inserm.fr	GRCh37	3	89448579	89448579	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC121T									Valid												ENST00000336596.2:c.1543del	p.Ala515LeufsTer30	p.A515Lfs*30	ENST00000336596	NM_005233.5	515	Gct/ct	0	validated		damaging	
POLG		inserm.fr	GRCh37	15	89862280	89862280	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM723T																					ENST00000268124.5:c.3155del	p.Gly1052AlafsTer42	p.G1052Afs*42	ENST00000268124	NM_001126131.1	1052	gGc/gc	0	validated		damaging	
NAALAD2		inserm.fr	GRCh37	11	89880559	89880559	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC304T									Valid												ENST00000534061.1:c.256del	p.Ile86SerfsTer10	p.I86Sfs*10	ENST00000534061	NM_005467.3	86	Atc/tc	0	validated		damaging	
KIF7		inserm.fr	GRCh37	15	90172685	90172685	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC320T																					ENST00000394412.3:c.3439del	p.Leu1147TrpfsTer7	p.L1147Wfs*7	ENST00000394412	NM_198525.2	1146	cgC/cg	0	validated		damaging	
MUC16		inserm.fr	GRCh37	19	9060916	9060916	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM723T																					ENST00000397910.4:c.26530del	p.Arg8844AlafsTer19	p.R8844Afs*19	ENST00000397910	NM_024690.2	8844	Cgc/gc	0	validated		damaging	
CASP8AP2		inserm.fr	GRCh37	6	90630324	90630324	+	intron_variant,non_coding_transcript_variant	Intron	DEL	G	-	-			CHC1065T									Valid												ENST00000458201.1:n.120+290del		*40*	ENST00000458201				0	validated		damaging	
KCNK13		inserm.fr	GRCh37	14	90651291	90651291	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC1744T																					ENST00000282146.4:c.1171del	p.Val391TrpfsTer7	p.V391Wfs*7	ENST00000282146	NM_022054.3	391	Gtg/tg	0	validated		damaging	
MUC16		inserm.fr	GRCh37	19	9090101	9090101	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC322T									Valid												ENST00000397910.4:c.1714del	p.Leu572Ter	p.L572*	ENST00000397910	NM_024690.2	572	Ctg/tg	0	validated		damaging	
SLC2A5		inserm.fr	GRCh37	1	9129583	9129583	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			BCM375T									Valid												ENST00000377424.4:c.13del	p.Asp5IlefsTer4	p.D5Ifs*4	ENST00000377424	NM_003039.2	5	Gat/at	0	validated		damaging	
ZNF644		inserm.fr	GRCh37	1	91406040	91406040	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM723T																					ENST00000370440.1:c.871del	p.Arg291GlufsTer7	p.R291Efs*7	ENST00000370440		291	Aga/ga	0	validated		damaging	
FURIN		inserm.fr	GRCh37	15	91424046	91424046	+	splice_donor_variant	Splice_Site	DEL	G	-	-			CHC1747T																					ENST00000268171.3:c.1681+1del		p.X561_splice	ENST00000268171	NM_002569.2			0	validated		damaging	
FURIN		inserm.fr	GRCh37	15	91425068	91425068	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			CHC433T									Valid												ENST00000268171.3:c.2345del	p.Gly782AlafsTer31	p.G782Afs*31	ENST00000268171	NM_002569.2	782	gGc/gc	0	validated		damaging	
AKAP9		inserm.fr	GRCh37	7	91706221	91706221	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			CHC2099T																					ENST00000356239.3:c.6665del	p.Lys2222ArgfsTer12	p.K2222Rfs*12	ENST00000356239	NM_147185.2	2222	aAg/ag	0	validated		damaging	
NAP1L3		inserm.fr	GRCh37	X	92927577	92927577	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1715T																					ENST00000373079.3:c.727del	p.Glu243ArgfsTer6	p.E243Rfs*6	ENST00000373079	NM_004538.5	243	Gag/ag	0	validated		damaging	
GOLGA5		inserm.fr	GRCh37	14	93263954	93263954	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC205T									Valid												ENST00000163416.2:c.173del	p.Pro58LeufsTer21	p.P58Lfs*21	ENST00000163416	NM_005113.3	58	Cct/ct	0	validated		damaging	
FAM69A		inserm.fr	GRCh37	1	93309036	93309036	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			BCM397T																					ENST00000370310.4:c.1191del	p.Val398SerfsTer12	p.V398Sfs*12	ENST00000370310	NM_001006605.4	397	aaA/aa	0	validated		damaging	
KIAA1731		inserm.fr	GRCh37	11	93428686	93428686	+	frameshift_variant	Frame_Shift_Del	DEL	G	-	-			BCM337T									Valid												ENST00000325212.6:c.1557del	p.Lys519AsnfsTer16	p.K519Nfs*16	ENST00000325212		519	aaG/aa	0	validated		damaging	
BTAF1		inserm.fr	GRCh37	10	93749033	93749033	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM329T																					ENST00000265990.6:c.2550del	p.Val851CysfsTer4	p.V851Cfs*4	ENST00000265990	NM_003972.2	850	caA/ca	0	validated		damaging	
PPP1R9A		inserm.fr	GRCh37	7	94740660	94740660	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM567T																					ENST00000433360.1:c.1485del	p.Lys495AsnfsTer3	p.K495Nfs*3	ENST00000433360	NM_001166160.1	495	aaA/aa	0	validated		damaging	
UNC5C		inserm.fr	GRCh37	4	96137309	96137309	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1180T																					ENST00000453304.1:c.1699del	p.Met567CysfsTer3	p.M567Cfs*3	ENST00000453304	NM_003728.3	567	Atg/tg	0	validated		damaging	
FUT9		inserm.fr	GRCh37	6	96652011	96652011	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC736T									Valid												ENST00000302103.5:c.980del	p.Pro327HisfsTer15	p.P327Hfs*15	ENST00000302103	NM_006581.3	327	cCa/ca	0	validated		damaging	
ZNF518A		inserm.fr	GRCh37	10	97918856	97918856	+	non_coding_transcript_exon_variant	RNA	DEL	A	-	-			BCM723T																					ENST00000534948.1:n.3642delA		*1214*	ENST00000534948				0	validated		damaging	
KIAA1211L		inserm.fr	GRCh37	2	99443575	99443575	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC469T									Valid												ENST00000397899.2:c.598del	p.Asp200ThrfsTer41	p.D200Tfs*41	ENST00000397899	NM_207362.2	200	Gac/ac	0	validated		damaging	
FILIP1L		inserm.fr	GRCh37	3	99567225	99567225	+	frameshift_variant	Frame_Shift_Del	DEL	C	-	-			CHC1044T																					ENST00000354552.3:c.3295del	p.Ala1099HisfsTer2	p.A1099Hfs*2	ENST00000354552	NM_182909.2	1099	Gca/ca	0	validated		damaging	
FILIP1L		inserm.fr	GRCh37	3	99568273	99568273	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC889T																					ENST00000354552.3:c.2247del	p.Lys749AsnfsTer2	p.K749Nfs*2	ENST00000354552	NM_182909.2	749	aaA/aa	0	validated		damaging	
LPPR4		inserm.fr	GRCh37	1	99764749	99764749	+	frameshift_variant	Frame_Shift_Del	DEL	T	-	-			CHC1040T																					ENST00000370185.3:c.697del	p.Cys233AlafsTer39	p.C233Afs*39	ENST00000370185	NM_014839.4	233	Tgc/gc	0	validated		damaging	
GPR18		inserm.fr	GRCh37	13	99907540	99907540	+	frameshift_variant	Frame_Shift_Del	DEL	A	-	-			BCM723T																					ENST00000340807.3:c.587delT	p.Phe196SerfsTer2	p.F196Sfs*2	ENST00000340807		196	tTc/tc	0	validated		damaging	
