Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
BBOF1_chr14_74014349_74071092	74022956	A A	T T	stop_gained stop_gained	HIGH	NA18940.hp1 NA18940.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0002 a0013c0018t0002	a0013c0018t0002g0276 a0013c0018t0002g0276	1	384	0.0026	0	c.97A others(2): Show c.97A>T	p.Lys others(3): Show p.Lys33*	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	2/12	227/3113	97/1590	33/529		chr14	TogoVar
BBS12_chr4_122727704_122749939	122743617	G G	A A	stop_gained stop_gained	HIGH	NA19003.hp2 NA19003.hp2	a0017 a0017	a0017c0023 a0017c0023	a0017c0023t0002 a0017c0023t0002	a0017c0023t0002g0014 a0017c0023t0002g0014	1	362	0.0028	0	c.172 others(4): Show c.1725G>A	p.Trp others(4): Show p.Trp575*	BBS12	ENSG00000181004.10	transcript	ENST00000314218.8	protein_coding	2/2	1916/3238	1725/2133	575/710		chr4	TogoVar
BBS1_chr11_66505635_66538598	66531692	G G	T T	stop_gained stop_gained	HIGH	HG01106.hp2 HG01106.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0008 a0005c0012t0008	a0005c0012t0008g0001 a0005c0012t0008g0001	1	384	0.0026	0	c.164 others(4): Show c.1645G>T	p.Glu others(4): Show p.Glu549*	BBS1	ENSG00000174483.20	transcript	ENST00000318312.12	protein_coding	16/17	1670/3368	1645/1782	549/593		chr11	TogoVar
BCAT1_chr12_24805024_24954101	24849875	T T	TGAAAAAT others(3392): Show TGAAAAATAAGGTCCCGGTTGCAGTGAGCCGAGATTGCACCACTGCACTC CACCCAGACAACAGAGCAAGACTCCGTCTCAAAAAATAAAATAAAATAAA AGGAAAAGAAAAAAGAAATTTCAGGCAGAGGAGGTCGCGGCGCCGGAGGC CCCAGAAGGGTCGAAGGCGCCGCGGGCTGGGGTCGGTGGCTTAGGGAGCC CGTCTGGCCATGGTGGCCGCGGCTGGTGGTTGGCGCGGCGGCGCTGACGC CCGCGGGCCCCAGCTGCAGATATGAAGCGGAGCCGCTGCCGCGACCGACC GCAGCCGCCGCCGCCCGACCGCCAGGAGGATGGAGTTCAGCGGGCAGCGG AGCTGTCTCAGTCTTTGCCGCCGCGCCGGCGAGCGCCGCCCGGGAGGCAG CGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGGCAAGGAGCAGCC GCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCTGC CACCCCGTCTGGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTCTG GGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGC GTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCC AGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCAT CGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCATCTGGGATGTG AGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGGTGAGGAGCGTCT CTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACC ACCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGTCTG AGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGG AGCGTCTCCGCCCGGCAGCCACCCCGTCCAGGAGGGAGGTGGGGGGGGGG GGTCAGCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGTC AGCCCCCCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACC CCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCC CCGTCCGGTAGGGAGGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCC GTCTGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCTGTCGGGGAGGGAGGTGGGGGGGT CAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTGGG GGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCC AGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGGGGGGTCGGCCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCTCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCC CGTCCGGCCAGCCGCCCCGTCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCTGCCCGG CCAGCCGCCCCGTCCGGGAGATGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTG TGCCCAACAGCTCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTG GAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTG CCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCT GCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTA CCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAA ATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGG CAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGG GACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGA GACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCA TGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAA AAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	NA18959.hp1 NA18959.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0076 a0004c0008t0002g0076	1	320	0.0031	3399	c.584 others(3406): Show c.584_585insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT AAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGAT TTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAG TGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGC AGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTA ACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCG CCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCA CAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAAT TTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCT ACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCC GCCTTTCTATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATG AGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCATCTCCCGGA CGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCTGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGACGGGGCG GCTGGCCGGACGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGAGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCCCACCTCCCTCCCG GACAGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGA CAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGG GGGCTGACCCCCCCCAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCG GGCGGAGGGCTGACCCCCCCACCTCCCTCCCCGACAGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCTACCTC CCTACCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTC CCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCC AGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCG GGCGGGGGGGCTGACCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGCTGACCCCCCCCCCCCACCTCCCTCCTGGACGGGGTGGCTGCCG GGCGGAGACGCTCCTCACTTCCCAGATGGGGTGGCTGCCGGGCGGAGAGG CTCCTCACTTCTCAGACGGGGCAGCTGCCGGGCGGAGGGGCTCCTCACTT CTCAGACGGGGTGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGG GCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCTCGGCCGGGC AGAGGCGCTCCTCACATCCCAGATGGGGCGGCGGGGCAGAGGCGCTCCCC ACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGAT GTGATGGCGGCTGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGGCGG CCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGG CTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACACTCCTCACTTC CCAGACGGGGTGGCAGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAG GCCAAGGCAGGCGGCTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCGTCCG CTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCGGCAAAG ACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCTGGCGGTCGGGC GGCGGCGGCTGCGGTCGGTCGCGGCAGCGGCTCCGCTTCATATCTGCAGC TGGGGCCCGCGGGCGTCAGCGCCGCCGCGCCAACCACCAGCCGCGGCCAC CATGGCCAGACGGGCTCCCTAAGCCACCGACCCCAGCCCGCGGCGCCTTC GACCCTTCTGGGGCCTCCGGCGCCGCGACCTCCTCTGCCTGAAATTTCTT TTTTCTTTTCCTTTTATTTTATTTTATTTTTTGAGACGGAGTCTTGCTCT GTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCGGGA CCTTATTTTTC	p.Ser others(3412): Show p.Ser195_Ser196insPhePhePhePhePhePhePhePhePhePhePh ePheTerIleTyrPhePheIleAspAsnSerTrpValPheLeuThrGluG lyAspLeuAlaGlySerTrpAspAsnSerGlyGlyLysValSerArgTer ThrSerGluGlnArgSerLeuValPheLeuGlyArgGlyProCysGlyLe uProGlnCysLeuCysProTerLeuLeuGluIleArgAspTrpTerTerL euLeuThrSerMetLeuProSerSerIleCysLeuThrLysHisIleLeu HisArgProTerSerIleTerProTerValAspThrAlaHisValSerGl uSerThrGlyLeuGlyValArgSerGlnIleAsnArgIleProArgGlnA rgAsnPheSerTerCysArgThrLysTerLysValSerHisValTyrPhe PheLeuHisArgHisGlyAsnHisProIleSerGlnSerPheProHisLe uSerArgLeuSerIleProGlnSerArgHisCysHisProGlyProPheS erMetSerCysTrpAlaHisLeuProAspGlyValValAlaGlyGlnArg GlySerSerLeuProSerArgGlyGlyArgAlaGluAlaProLeuIleSe rArgThrGlyArgLeuAlaGlyGlnGlyGlyTerProProHisLeuProP roGlyArgGlyGlyTrpProGlyGlyGlyLeuThrProGlnProProSer ArgThrGlyArgLeuAlaGlyArgGlyAlaAspProProThrSerLeuPr oAspGlyAlaAlaGlyArgAlaGluGlyLeuLeuThrSerGlnTerGlyA rgProGlyArgGlyAlaProHisLeuProAspGlyAlaAlaGlyArgThr GlyArgLeuAlaGlyArgGlyAlaAspProProThrSerLeuProAspGl yAlaAlaGlyArgAlaGlyGlyArgProProHisLeuProProGlyArgG lyGlyTrpProGlyGlyGlyProThrProProProProSerArgThrGly ArgLeuAlaGlyGlnArgGlySerSerLeuProSerArgGlyGlyArgAl aGluAlaProLeuThrSerArgThrGlyArgLeuAlaGlyArgGlyGlyT erProProProThrSerLeuProAspGlyAlaAlaGlyArgAlaGlyGly TerProProHisLeuProProGlyArgGlyGlyTrpProGlyArgGlyAl aProHisPheProValGlyAlaAlaGluGlnArgArgProSerProProG lyArgGlyGlyTrpProGlyArgGlyAlaAspProProProProProPro SerArgThrGlyArgLeuAlaGlyArgGlyAlaAspProProThrSerLe uProAspGlyAlaAlaGlyArgAlaGlyGlyArgProProHisLeuProP roGlyGlnGlyGlyTrpProGlyArgGlyAlaProHisPheProValGly AlaAlaGlyGlnArgArgProSerProProGlyGlnGlyGlyTrpLeuGl yGlyGlyAlaAspProProGlnProProSerGlnThrGlyArgLeuAlaG lyArgGlyAlaAspProProThrSerLeuProAspGlyAlaAlaGlyArg AlaGluGlyLeuLeuThrSerGlnTerGlyArgProGlyArgGlyAlaPr oHisLeuProAspGlyAlaAlaGlyArgAlaGlyGlyProThrProProP roProSerArgThrGlyArgLeuAlaGlyGlnArgGlySerSerLeuPro SerArgGlyGlyArgAlaGluAlaProLeuThrSerGlnThrGlyArgLe uAlaGlyArgArgAlaAspProProThrSerLeuProAspArgAlaAlaG lyArgAlaGlyGlyTerProProHisLeuProProGlyArgGlyGlyTrp ProGlyArgGlyAlaProHisPheProValGlyAlaAlaGlyGlnArgAr gProSerProProArgArgGlyGlyTrpProGlyGlyGlyLeuThrProP roProProSerArgThrGlyArgLeuAlaArgArgGlyAlaAspProPro ThrSerLeuProAspGlyAlaAlaGlyArgValGlyGlyLeuThrProPr oSerProSerArgThrGlyTrpLeuAlaGlyLeuArgGlySerSerLeuP roSerArgGlyGlyArgAlaGluAlaProLeuThrSerArgThrGlyArg LeuAlaGlyArgGlyAlaAspProProThrSerLeuProAspGlyThrAl aGlyGlnAlaGlyGlyTerProProHisLeuProProGlyTrpHisGlyT rpProGlyGlyGlyAlaAspProHisLeuProProGlyTrpGlyGlyTrp ProGlyGlyGlyTerProProProProThrSerLeuLeuAspGlyValAl aAlaGlyArgArgArgSerSerLeuProArgTrpGlyGlyCysArgAlaG luArgLeuLeuThrSerGlnThrGlyGlnLeuProGlyGlyGlyAlaPro HisPheSerAspGlyValValAlaArgGlnArgValSerSerLeuLeuAr gArgGlyGlyArgAlaGluThrLeuLeuThrSerGlnThrGlySerArgP roGlyArgGlyAlaProHisIleProAspGlyAlaAlaGlyGlnArgArg SerProHisLeuArgArgTrpAlaAlaGlyGlnArgArgSerSerLeuPr oArgCysAspGlyGlyTrpGluGluAlaLeuLeuThrSerTerMetGlyT rpArgProGlyGlyAspAlaProHisPheProAspTrpAlaAlaArgGln ArgGlySerSerHisProArgArgTrpAlaAlaArgGlnArgHisSerSe rLeuProArgArgGlyGlySerArgAlaGluAlaAlaIleSerAlaLeuT rpGluAlaLysAlaGlyGlyCysSerLeuProSerGlyProAlaGlyPro ValArgSerSerSerArgCysLeuProGlyGlyAlaArgArgArgGlyGl yLysAspTerAspSerSerAlaAlaArgTerThrProSerSerTrpArgS erGlyGlyGlyGlyCysGlyArgSerArgGlnArgLeuArgPheIleSer AlaAlaGlyAlaArgGlyArgGlnArgArgArgAlaAsnHisGlnProAr gProProTrpProAspGlyLeuProLysProProThrProAlaArgGlyA laPheAspProSerGlyAlaSerGlyAlaAlaThrSerSerAlaTerAsn PhePhePheLeuPheLeuLeuPheTyrPheIlePheTerAspGlyValLe uLeuCysCysLeuGlyGlyValGlnTrpCysAsnLeuGlySerLeuGlnP roGlyProTyrPheSer	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	6/11	753/9314	584/1161	195/386		chr12	TogoVar
BCO2_chr11_112170512_112223946	112214843	C C	T T	stop_gained stop_gained	HIGH	HG01243.hp2 HG02723.hp1 HG03098.hp2 others(1): Show HG01243.hp2 HG02723.hp1 HG03098.hp2 NA21309.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0321 a0004c0005t0001g0322 a0004c0005t0001g0323 others(1): Show a0004c0005t0001g0321 a0004c0005t0001g0322 a0004c0005t0001g0323 a0004c0005t0001g0350	4	378	0.0106	0	c.141 others(4): Show c.1414C>T	p.Arg others(4): Show p.Arg472*	BCO2	ENSG00000197580.13	transcript	ENST00000357685.11	protein_coding	10/12	1504/2902	1414/1740	472/579		chr11	TogoVar
BECN2_chr1_241952767_241964062	241959026	G G	A A	stop_gained stop_gained	HIGH	HG00642.hp1 HG00642.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0000 a0006c0009t0001g0000	1	442	0.0023	0	c.126 others(4): Show c.1260G>A	p.Trp others(4): Show p.Trp420*	BECN2	ENSG00000196289.7	transcript	ENST00000419583.2	protein_coding	1/1	1260/1296	1260/1296	420/431		chr1	TogoVar
BHLHE41_chr12_26115030_26130037	26122674	T T	A A	stop_gained stop_gained	HIGH	NA19065.hp1 NA19065.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0035 a0009c0012t0001g0035	1	420	0.0024	0	c.841 others(3): Show c.841A>T	p.Lys others(4): Show p.Lys281*	BHLHE41	ENSG00000123095.6	transcript	ENST00000242728.5	protein_coding	5/5	1099/3743	841/1449	281/482		chr12	TogoVar
BHLHE41_chr12_26115030_26130037	26122719	T T	A A	stop_gained stop_gained	HIGH	NA19065.hp1 NA19065.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0035 a0009c0012t0001g0035	1	420	0.0024	0	c.796 others(3): Show c.796A>T	p.Lys others(4): Show p.Lys266*	BHLHE41	ENSG00000123095.6	transcript	ENST00000242728.5	protein_coding	5/5	1054/3743	796/1449	266/482		chr12	TogoVar
BHMT2_chr5_79064767_79095069	79080828	C C	T T	stop_gained stop_gained	HIGH	HG00438.hp2 HG00438.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0105 a0003c0008t0003g0105	1	388	0.0026	0	c.400 others(3): Show c.400C>T	p.Gln others(4): Show p.Gln134*	BHMT2	ENSG00000132840.10	transcript	ENST00000255192.8	protein_coding	4/8	416/2603	400/1092	134/363		chr5	TogoVar
BIRC2_chr11_102342214_102383670	102377738	A A	T T	stop_gained stop_gained	HIGH	NA18987.hp1 NA18987.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0144 a0006c0008t0001g0144	1	342	0.0029	0	c.160 others(4): Show c.1609A>T	p.Lys others(4): Show p.Lys537*	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	7/9	3029/3764	1609/1857	537/618		chr11	TogoVar
BIRC7_chr20_63230905_63245495	63236173	C C	CGCAGGAG others(39): Show CGCAGGAGCGCTGTGGACCCCGCTCTCTGGGCAGCCTGCTGTCCTAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18992.hp1 NA18992.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0027 a0010c0019t0001g0027	1	298	0.0034	46	c.112 others(53): Show c.112_113insTGCTGTCCTAGGCAGGAGCGCTGTGGACCCCGCTCTCT GGGCAGCC	p.Pro others(4): Show p.Pro38fs	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding	1/7	305/1334	113/897	38/298	INFO_REALIGN_3_PRIME	chr20	TogoVar
BMP1_chr8_22160372_22206482	22201171	C C	T T	stop_gained stop_gained	HIGH	HG02976.hp2 HG02976.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0263 a0008c0011t0001g0263	1	416	0.0024	0	c.216 others(4): Show c.2161C>T	p.Arg others(4): Show p.Arg721*	BMP1	ENSG00000168487.20	transcript	ENST00000306349.13	protein_coding	16/16	2195/2506	2161/2193	721/730		chr8	TogoVar
BNIPL_chr1_151031586_151052720	151043695	G G	A A	stop_gained stop_gained	HIGH	HG02559.hp1 HG02559.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0077 a0010c0012t0001g0077	1	360	0.0028	0	c.819 others(3): Show c.819G>A	p.Trp others(4): Show p.Trp273*	BNIPL	ENSG00000163141.20	transcript	ENST00000368931.8	protein_coding	7/10	959/2247	819/1074	273/357		chr1	TogoVar
BOK_chr2_241553745_241579131	241559592	G G	T T	stop_gained stop_gained	HIGH	HG02040.hp1 HG02040.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0130 a0004c0010t0002g0130	1	432	0.0023	0	c.109 others(3): Show c.109G>T	p.Glu others(3): Show p.Glu37*	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	2/5	387/2626	109/639	37/212		chr2	TogoVar
BPIFA2_chr20_33163159_33186412	33179655	C C	T T	stop_gained stop_gained	HIGH	HG02738.hp2 HG04204.hp1 HG02738.hp2 HG04204.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0001 a0007c0010t0001g0062 a0007c0010t0001g0001 a0007c0010t0001g0062	2	376	0.0053	0	c.697 others(3): Show c.697C>T	p.Gln others(4): Show p.Gln233*	BPIFA2	ENSG00000131050.11	transcript	ENST00000354932.6	protein_coding	7/9	763/1042	697/750	233/249		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33223849	C C	T T	stop_gained stop_gained	HIGH	NA19088.hp2 NA19088.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0001 a0006c0016t0001	a0006c0016t0001g0007 a0006c0016t0001g0007	1	414	0.0024	0	c.166 others(3): Show c.166C>T	p.Arg others(3): Show p.Arg56*	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding	2/7	351/1139	166/765	56/254		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33223919	G G	A A	stop_gained stop_gained	HIGH	HG02809.hp1 HG02809.hp1	a0012 a0012	a0012c0009 a0012c0009	a0012c0009t0002 a0012c0009t0002	a0012c0009t0002g0047 a0012c0009t0002g0047	1	414	0.0024	0	c.236 others(3): Show c.236G>A	p.Trp others(3): Show p.Trp79*	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding	2/7	421/1139	236/765	79/254		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33224402	C C	A A	stop_gained stop_gained	HIGH	HG00741.hp1 HG01884.hp1 HG00741.hp1 HG01884.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0105 a0006c0008t0002g0106 a0006c0008t0002g0105 a0006c0008t0002g0106	2	414	0.0048	0	c.326 others(3): Show c.326C>A	p.Ser others(4): Show p.Ser109*	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding	3/7	511/1139	326/765	109/254		chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33225206	C C	A A	stop_gained stop_gained	HIGH	HG00741.hp1 HG01884.hp1 HG00741.hp1 HG01884.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0105 a0006c0008t0002g0106 a0006c0008t0002g0105 a0006c0008t0002g0106	2	414	0.0048	0	c.495 others(3): Show c.495C>A	p.Cys others(4): Show p.Cys165*	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding	4/7	680/1139	495/765	165/254		chr20	TogoVar
BPNT2_chr8_56952931_56998867	56993348	C C	A A	stop_gained stop_gained	HIGH	HG02723.hp2 HG02723.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0013 a0005c0004t0013	a0005c0004t0013g0188 a0005c0004t0013g0188	1	354	0.0028	0	c.238 others(3): Show c.238G>T	p.Glu others(3): Show p.Glu80*	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding	1/5	520/7224	238/1080	80/359		chr8	TogoVar
BRME1_chr19_13877348_13911117	13889358	G G	A A	stop_gained stop_gained	HIGH	HG02572.hp2 HG02723.hp2 HG02818.hp1 others(1): Show HG02572.hp2 HG02723.hp2 HG02818.hp1 HG03225.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0043 a0002c0006t0002g0044 a0002c0006t0002g0046 others(1): Show a0002c0006t0002g0043 a0002c0006t0002g0044 a0002c0006t0002g0046 a0002c0006t0002g0047	4	322	0.0124	0	c.149 others(4): Show c.1498C>T	p.Gln others(4): Show p.Gln500*	BRME1	ENSG00000132016.12	transcript	ENST00000586783.6	protein_coding	6/9	1922/2885	1498/2007	500/668		chr19	TogoVar
BROX_chr1_222707564_222740187	222727179	C C	T T	stop_gained stop_gained	HIGH	HG02735.hp1 HG02735.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0007 a0003c0007t0004g0007	1	384	0.0026	0	c.592 others(3): Show c.592C>T	p.Arg others(4): Show p.Arg198*	BROX	ENSG00000162819.12	transcript	ENST00000340934.10	protein_coding	8/13	987/4104	592/1236	198/411		chr1	TogoVar
BTAF1_chr10_91918770_92036437	92011338	G G	T T	stop_gained stop_gained	HIGH	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0093 a0004c0008t0001g0093	1	328	0.0030	0	c.423 others(4): Show c.4234G>T	p.Gly others(5): Show p.Gly1412*	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/38	4541/8361	4234/5550	1412/1849		chr10	TogoVar
BTG4_chr11_111489815_111517386	111495140	G G	A A	stop_gained stop_gained	HIGH	NA18970.hp1 NA18990.hp1 NA18970.hp1 NA18990.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0038 a0002c0003t0001g0038	2	352	0.0057	0	c.685 others(3): Show c.685C>T	p.Arg others(4): Show p.Arg229*	BTG4	ENSG00000137707.14	transcript	ENST00000692032.1	protein_coding	5/5	917/1242	685/690	229/229		chr11	TogoVar
BTN3A2_chr6_26360198_26383312	26368853	T T	A A	stop_gained stop_gained	HIGH	HG04228.hp2 HG04228.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0192 a0007c0012t0001g0192	1	380	0.0026	0	c.374 others(3): Show c.374T>A	p.Leu others(4): Show p.Leu125*	BTN3A2	ENSG00000186470.14	transcript	ENST00000377708.7	protein_coding	4/11	595/3776	374/1005	125/334		chr6	TogoVar
BTN3A3_chr6_26435504_26458415	26445783	G G	A A	stop_gained stop_gained	HIGH	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0041 a0003c0006t0001g0041	2	408	0.0049	0	c.513 others(3): Show c.513G>A	p.Trp others(4): Show p.Trp171*	BTN3A3	ENSG00000111801.16	transcript	ENST00000244519.7	protein_coding	5/11	724/2970	513/1755	171/584		chr6	TogoVar
BTNL2_chr6_32388339_32412181	32394744	C C	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG00438.hp2 HG02015.hp2 HG02129.hp2 others(42): Show HG00438.hp2 HG02015.hp2 HG02129.hp2 HG02132.hp2 HG02683.hp2 HG03490.hp2 HG03669.hp2 HG03831.hp2 HG04204.hp2 NA18940.hp2 NA18942.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18969.hp2 NA18972.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp2 NA19056.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp2 NA19081.hp2 NA19085.hp2 NA19091.hp2 NA20905.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0001 a0004c0003t0003g0017 a0004c0003t0003g0041 others(7): Show a0004c0003t0003g0001 a0004c0003t0003g0017 a0004c0003t0003g0041 a0004c0003t0003g0067 a0004c0003t0003g0068 a0004c0003t0003g0170 a0004c0003t0003g0171 a0004c0003t0003g0172 a0004c0003t0003g0173 a0004c0003t0003g0174	45	451	0.0998	0	c.136 others(4): Show c.1360G>T	p.Glu others(4): Show p.Glu454*	BTNL2	ENSG00000204290.11	transcript	ENST00000454136.8	protein_coding	6/8	1418/1564	1360/1449	454/482		chr6	TogoVar
BTNL2_chr6_32388339_32412181	32396267	G G	A A	stop_gained stop_gained	HIGH	HG00642.hp2 HG01081.hp2 HG01255.hp2 others(2): Show HG00642.hp2 HG01081.hp2 HG01255.hp2 HG02922.hp2 NA19030.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0004 a0008c0011t0004	a0008c0011t0004g0042 a0008c0011t0004g0069 a0008c0011t0004g0042 a0008c0011t0004g0069	5	452	0.0111	0	c.850 others(3): Show c.850C>T	p.Arg others(4): Show p.Arg284*	BTNL2	ENSG00000204290.11	transcript	ENST00000454136.8	protein_coding	5/8	908/1564	850/1449	284/482		chr6	TogoVar
BUB1B_chr15_40156069_40226123	40170479	A A	AAGAACAA others(57): Show AAGAACAAAAGTACATGTTCAATTTAAAATGTGTTCTTATCTTTTTCCTC CCATTTAGGTATATC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	350	0.0029	64	c.240 others(74): Show c.240-55_248dupAACAAAAGTACATGTTCAATTTAAAATGTGTTCTT ATCTTTTTCCTCCCATTTAGGTATATCAG	p.Ser others(4): Show p.Ser83fs	BUB1B	ENSG00000156970.13	transcript	ENST00000287598.11	protein_coding	4/23	401/3669	249/3153	83/1050	INFO_REALIGN_3_PRIME	chr15	TogoVar
C10orf88_chr10_122925901_122959227	122932507	G G	A A	stop_gained stop_gained	HIGH	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0008 a0004c0008t0008	a0004c0008t0008g0095 a0004c0008t0008g0095	1	400	0.0025	0	c.125 others(4): Show c.1258C>T	p.Gln others(4): Show p.Gln420*	C10orf88	ENSG00000119965.13	transcript	ENST00000481909.2	protein_coding	6/6	1307/2913	1258/1338	420/445		chr10	TogoVar
C10orf90_chr10_126419997_126675693	126464816	G G	A A	stop_gained stop_gained	HIGH	HG01099.hp2 HG02615.hp2 HG01099.hp2 HG02615.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0006 a0008c0015t0001 a0008c0015t0006	a0008c0015t0001g0158 a0008c0015t0006g0157 a0008c0015t0001g0158 a0008c0015t0006g0157	2	216	0.0093	0	c.170 others(4): Show c.1705C>T	p.Arg others(4): Show p.Arg569*	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	5/10	1918/3471	1705/2391	569/796		chr10	TogoVar
C11orf16_chr11_8915076_8937947	8926093	C C	A A	stop_gained stop_gained	HIGH	HG01943.hp2 HG01943.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0063 a0012c0016t0001g0063	1	408	0.0025	0	c.574 others(3): Show c.574G>T	p.Glu others(4): Show p.Glu192*	C11orf16	ENSG00000176029.14	transcript	ENST00000326053.10	protein_coding	5/7	639/1866	574/1404	192/467		chr11	TogoVar
C11orf21_chr11_2290628_2306918	2300599	C C	T T	stop_gained stop_gained	HIGH	HG02055.hp2 HG02615.hp1 HG02717.hp2 others(3): Show HG02055.hp2 HG02615.hp1 HG02717.hp2 HG02896.hp1 HG02922.hp2 HG03579.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0007 a0004c0005t0005g0007	6	424	0.0142	0	c.68G others(2): Show c.68G>A	p.Trp others(3): Show p.Trp23*	C11orf21	ENSG00000110665.12	transcript	ENST00000381153.8	protein_coding	2/4	178/2831	68/399	23/132		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114400275	G G	C C	stop_gained stop_gained	HIGH	HG02622.hp1 HG02723.hp2 HG02896.hp2 others(1): Show HG02622.hp1 HG02723.hp2 HG02896.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0000 a0002c0002t0004g0000	4	420	0.0095	0	c.57C others(2): Show c.57C>G	p.Tyr others(3): Show p.Tyr19*	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding	1/1	237/1980	57/372	19/123		chr11	TogoVar
C12orf56_chr12_64259762_64395758	64285979	G G	A A	stop_gained stop_gained	HIGH	HG00558.hp2 HG00558.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0002 a0005c0015t0002	a0005c0015t0002g0236 a0005c0015t0002g0236	1	310	0.0032	0	c.119 others(4): Show c.1195C>T	p.Gln others(4): Show p.Gln399*	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	7/13	1388/4483	1195/1869	399/622		chr12	TogoVar
C12orf56_chr12_64259762_64395758	64318664	T T	A A	stop_gained stop_gained	HIGH	HG03471.hp1 HG03471.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0002 a0005c0016t0002	a0005c0016t0002g0305 a0005c0016t0002g0305	1	310	0.0032	0	c.805 others(3): Show c.805A>T	p.Lys others(4): Show p.Lys269*	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	4/13	998/4483	805/1869	269/622		chr12	TogoVar
C14orf28_chr14_44892275_44912257	44900759	G G	A A	stop_gained stop_gained	HIGH	NA19075.hp1 NA19075.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0001 a0005c0006t0001g0001	1	336	0.0030	0	c.324 others(3): Show c.324G>A	p.Trp others(4): Show p.Trp108*	C14orf28	ENSG00000179476.8	transcript	ENST00000325192.8	protein_coding	2/5	619/2935	324/933	108/310		chr14	TogoVar
C14orf28_chr14_44892275_44912257	44900764	G G	A A	stop_gained stop_gained	HIGH	NA19075.hp1 NA19075.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0001 a0005c0006t0001g0001	1	336	0.0030	0	c.329 others(3): Show c.329G>A	p.Trp others(4): Show p.Trp110*	C14orf28	ENSG00000179476.8	transcript	ENST00000325192.8	protein_coding	2/5	624/2935	329/933	110/310		chr14	TogoVar
C14orf28_chr14_44892275_44912257	44900765	G G	A A	stop_gained stop_gained	HIGH	NA19075.hp1 NA19075.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0001 a0005c0006t0001g0001	1	336	0.0030	0	c.330 others(3): Show c.330G>A	p.Trp others(4): Show p.Trp110*	C14orf28	ENSG00000179476.8	transcript	ENST00000325192.8	protein_coding	2/5	625/2935	330/933	110/310		chr14	TogoVar
C14orf28_chr14_44892275_44912257	44900775	G G	T T	stop_gained stop_gained	HIGH	NA19075.hp1 NA19075.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0001 a0005c0006t0001g0001	1	336	0.0030	0	c.340 others(3): Show c.340G>T	p.Glu others(4): Show p.Glu114*	C14orf28	ENSG00000179476.8	transcript	ENST00000325192.8	protein_coding	2/5	635/2935	340/933	114/310		chr14	TogoVar
C14orf28_chr14_44892275_44912257	44900900	T T	A A	stop_gained stop_gained	HIGH	NA19075.hp1 NA19075.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0001 a0005c0006t0001g0001	1	336	0.0030	0	c.465 others(3): Show c.465T>A	p.Cys others(4): Show p.Cys155*	C14orf28	ENSG00000179476.8	transcript	ENST00000325192.8	protein_coding	2/5	760/2935	465/933	155/310		chr14	TogoVar
C16orf89_chr16_5039122_5070956	5047927	A A	T T	stop_gained stop_gained	HIGH	HG04204.hp1 HG04204.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0004 a0005c0012t0004	a0005c0012t0004g0209 a0005c0012t0004g0209	1	430	0.0023	0	c.906 others(3): Show c.906T>A	p.Tyr others(4): Show p.Tyr302*	C16orf89	ENSG00000153446.16	transcript	ENST00000472572.8	protein_coding	7/8	954/1360	906/1086	302/361		chr16	TogoVar
C16orf89_chr16_5039122_5070956	5060404	T T	A A	stop_gained stop_gained	HIGH	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0061 a0002c0003t0001g0061	1	430	0.0023	0	c.391 others(3): Show c.391A>T	p.Lys others(4): Show p.Lys131*	C16orf89	ENSG00000153446.16	transcript	ENST00000472572.8	protein_coding	3/8	439/1360	391/1086	131/361		chr16	TogoVar
C16orf96_chr16_4551340_4605758	4576137	C C	T T	stop_gained stop_gained	HIGH	HG02148.hp2 HG02148.hp2	a0009 a0009	a0009c0037 a0009c0037	a0009c0037t0002 a0009c0037t0002	a0009c0037t0002g0073 a0009c0037t0002g0073	1	276	0.0036	0	c.165 others(4): Show c.1657C>T	p.Gln others(4): Show p.Gln553*	C16orf96	ENSG00000205832.8	transcript	ENST00000444310.5	protein_coding	5/16	1807/4017	1657/3426	553/1141		chr16	TogoVar
C16orf96_chr16_4551340_4605758	4576436	C C	G G	stop_gained stop_gained	HIGH	HG03041.hp2 HG03041.hp2	a0009 a0009	a0009c0036 a0009c0036	a0009c0036t0002 a0009c0036t0002	a0009c0036t0002g0014 a0009c0036t0002g0014	1	276	0.0036	0	c.195 others(4): Show c.1956C>G	p.Tyr others(4): Show p.Tyr652*	C16orf96	ENSG00000205832.8	transcript	ENST00000444310.5	protein_coding	5/16	2106/4017	1956/3426	652/1141		chr16	TogoVar
C16orf96_chr16_4551340_4605758	4600162	C C	T T	stop_gained stop_gained	HIGH	HG02922.hp1 HG02922.hp1	a0023 a0023	a0023c0020 a0023c0020	a0023c0020t0007 a0023c0020t0007	a0023c0020t0007g0009 a0023c0020t0007g0009	1	276	0.0036	0	c.327 others(4): Show c.3271C>T	p.Arg others(5): Show p.Arg1091*	C16orf96	ENSG00000205832.8	transcript	ENST00000444310.5	protein_coding	16/16	3421/4017	3271/3426	1091/1141		chr16	TogoVar
C17orf107_chr17_4894536_4907934	4900416	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00639.hp2 HG00741.hp2 others(91): Show HG00099.hp2 HG00639.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02129.hp1 HG02135.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03942.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18969.hp1 NA18986.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19066.hp2 NA19077.hp2 NA19086.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0019 a0002c0002t0029 a0004c0004t0001	a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 others(4): Show a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 a0002c0002t0007g0001 a0002c0002t0019g0001 a0002c0002t0029g0001 a0004c0004t0001g0001	94	440	0.2136	0	c.456 others(3): Show c.456G>A	p.Trp others(4): Show p.Trp152*	C17orf107	ENSG00000205710.4	transcript	ENST00000381365.4	protein_coding	3/3	683/3201	456/573	152/190		chr17	TogoVar
C17orf114_chr17_4796159_4807328	4802287	C C	T T	stop_gained stop_gained	HIGH	NA18966.hp2 NA18966.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0009 a0003c0004t0001g0009	1	424	0.0024	0	c.33G others(2): Show c.33G>A	p.Trp others(3): Show p.Trp11*	C17orf114	ENSG00000262165.2	transcript	ENST00000635921.2	protein_coding	1/2	42/379	33/240	11/79		chr17	TogoVar
C17orf80_chr17_73227433_73253959	73235569	G G	GATGATAG others(22): Show GATGATAGGACCAACCATACCTACTGATCA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19072.hp2 NA19072.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0129 a0011c0019t0001g0129	1	382	0.0026	29	c.89_ others(35): Show c.89_117dupTGATAGGACCAACCATACCTACTGATCAA	p.Lys others(4): Show p.Lys40fs	C17orf80	ENSG00000141219.16	transcript	ENST00000535032.7	protein_coding	3/6	288/3618	118/1830	40/609	INFO_REALIGN_3_PRIME	chr17	TogoVar
C18orf63_chr18_74310839_74364189	74353660	C C	T T	stop_gained stop_gained	HIGH	NA18948.hp2 NA18948.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0028 a0012c0015t0028	a0012c0015t0028g0127 a0012c0015t0028g0127	1	370	0.0027	0	c.139 others(4): Show c.1393C>T	p.Gln others(4): Show p.Gln465*	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding	12/14	1696/5103	1393/2058	465/685		chr18	TogoVar

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