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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
UNC13C_chr15_53973441_54633605	54552519	T T	TAATTATA others(37): Show TAATTATATTATATTGTACAATATATATAATATATTTATTATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0043 a0001c0020t0001g0043	1	156	0.0064	44	c.587 others(63): Show c.5877+2828_5877+2829insAATTATATTATATTGTACAATATATA TAATATATTTATTATATA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	28/32			chr15	TogoVar
UNC5A_chr5_176805559_176885898	176805929	A A	AGAAAGAA others(37): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	266	0.0038	44	c.-48 others(55): Show c.-4822_-4821insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding		4629		chr5	TogoVar
UNC5A_chr5_176805559_176885898	176858722	A A	AGAAGGAA others(37): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	57	0.0175	44	c.71- others(59): Show c.71-3892_71-3849dupAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5C_chr4_95157504_95553973	95256699	A A	AATATATA others(37): Show AATATATATATATATATAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01496.hp2 NA19006.hp1 HG00673.hp2 HG01496.hp2 NA19006.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0005 a0002c0002 a0004c0022 a0001c0005 a0002c0002 a0004c0022	a0001c0005t0001 a0002c0002t0036 a0004c0022t0015 a0001c0005t0001 a0002c0002t0036 a0004c0022t0015	a0001c0005t0001g0136 a0002c0002t0036g0090 a0004c0022t0015g0024 a0001c0005t0001g0136 a0002c0002t0036g0090 a0004c0022t0015g0024	3	145	0.0207	44	c.595 others(61): Show c.595-6033_595-6032insATATATATATATATATATATATATATTT ATATATATATATATAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95256714	A A	ATAAATAT others(37): Show ATAAATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03710.hp1 NA18946.hp1 others(3): Show HG02258.hp2 HG03710.hp1 NA18946.hp1 NA18961.hp1 NA19062.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0002c0002 a0001c0003 a0001c0005 a0002c0002	a0001c0003t0001 a0001c0003t0027 a0001c0005t0001 others(1): Show a0001c0003t0001 a0001c0003t0027 a0001c0005t0001 a0002c0002t0001	a0001c0003t0001g0020 a0001c0003t0001g0035 a0001c0003t0027g0065 others(3): Show a0001c0003t0001g0020 a0001c0003t0001g0035 a0001c0003t0027g0065 a0001c0005t0001g0076 a0001c0005t0001g0165 a0002c0002t0001g0160	6	193	0.0311	44	c.595 others(61): Show c.595-6048_595-6047insCATATATATATATATATATATATATATA TATATATATATATTTA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UPB1_chr22_24490332_24533390	24524791	C C	CAGCAACC others(37): Show CAGCAACCTTTTATAAGCAAATTGTATATGCAAATGTCCATTGTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0271 a0001c0001t0005g0271	1	350	0.0029	44	c.107 others(61): Show c.1072-918_1072-875dupGCAACCTTTTATAAGCAAATTGTATATG CAAATGTCCATTGTTA	UPB1	ENSG00000100024.15	transcript	ENST00000326010.10	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
UPK1A_chr19_35661517_35683481	35680685	A A	AATAAATA others(37): Show AATAAATAAATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0158 a0003c0005t0002g0158	1	392	0.0026	44	c.26 others(55): Show c.2666_*2667insATAAATAAATATATATATATATATATATATATAT ATATATATAT	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		2205		chr19	TogoVar
UPK1A_chr19_35661517_35683481	35682244	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	161	0.0062	44	c.42 others(55): Show c.4225_*4226insATATATATATATATATATATATATATATATATAT ATATATATAT	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		3764		chr19	TogoVar
UPK1A_chr19_35661517_35683481	35682268	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	413	0.0024	44	c.42 others(55): Show c.4249_*4250insATATATATATATATATATATATATATATATATAT ATATATATAA	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		3788		chr19	TogoVar
URB1_chr21_32306018_32398012	32361159	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0012 a0003c0015t0012	a0003c0015t0012g0034 a0003c0015t0012g0034	1	18	0.0556	44	c.164 others(59): Show c.1640-80_1640-37dupCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	12/38			chr21	TogoVar
USH2A_chr1_215617891_216428448	215743386	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0061 a0061	a0061c0012 a0061c0012	a0061c0012t0002 a0061c0012t0002	a0061c0012t0002g0005 a0061c0012t0002g0005	1	24	0.0417	44	c.113 others(61): Show c.11390-52_11390-51insCACACACACATATATATATATATATATA TATATATATATATATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	58/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	215743386	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0029 a0029	a0029c0043 a0029c0043	a0029c0043t0002 a0029c0043t0002	a0029c0043t0002g0047 a0029c0043t0002g0047	1	24	0.0417	44	c.113 others(61): Show c.11390-52_11390-51insCACACACACACATATATATATATATATA TATATATATATATATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	58/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	215743386	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0047 a0047	a0047c0044 a0047c0044	a0047c0044t0002 a0047c0044t0002	a0047c0044t0002g0073 a0047c0044t0002g0073	1	24	0.0417	44	c.113 others(61): Show c.11390-52_11390-51insCACACACACACACATATATATATATATA TATATATATATATATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	58/71			chr1	TogoVar
USP13_chr3_179648040_179794401	179687659	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	24	0.0417	44	c.295 others(61): Show c.295-2556_295-2555insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP46_chr4_52585960_52664301	52632918	G G	GAGAAAGA others(37): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	120	0.0083	44	c.37- others(59): Show c.37-1818_37-1775dupTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	1/8			chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	AGATATAT others(37): Show AGATATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18950.hp2 NA19006.hp1 others(2): Show HG02083.hp1 NA18950.hp2 NA19006.hp1 NA19057.hp1 NA19088.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0326 a0001c0004t0005g0327 a0001c0004t0005g0328 others(2): Show a0001c0004t0005g0326 a0001c0004t0005g0327 a0001c0004t0005g0328 a0001c0004t0005g0329 a0001c0004t0005g0330	5	236	0.0212	44	c.-94 others(61): Show c.-941-410_-941-409insGATATATATATATATATATATGTGTGTG TGTGTGTGTGTGTGTG	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18			chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	AGATATAT others(37): Show AGATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0331 a0001c0004t0005g0331	1	232	0.0043	44	c.-94 others(61): Show c.-941-410_-941-409insGATATATATATATATATATGTGTGTGTG TGTGTGTGTGTGTGTG	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18			chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(37): Show ATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0250 a0001c0003t0004g0250	1	232	0.0043	44	c.-94 others(61): Show c.-941-409_-941-408insATATATATATGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
UTP18_chr17_51255546_51302933	51301825	C C	CCCCATGG others(37): Show CCCCATGGTCAAGGTGGATTACATGCGATGAGCACGTAGCAAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0038	1	364	0.0027	44	c.40 others(55): Show c.4058_*4059insCCCATGGTCAAGGTGGATTACATGCGATGAGCAC GTAGCAAAGT	UTP18	ENSG00000011260.14	transcript	ENST00000225298.12	protein_coding		3893		chr17	TogoVar
VAV1_chr19_6767708_6862361	6814667	C C	CCTTTCTT others(37): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	204	0.0049	44	c.205 others(61): Show c.205-6032_205-6031insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6816536	G G	GACACACA others(37): Show GACACACACACATGCAGATACACACAGACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	271	0.0037	44	c.205 others(61): Show c.205-4155_205-4154insTGCAGATACACACAGACACACACACACA CACACACACACACACA	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV3_chr1_107566161_107970180	107892758	C C	CAAGTATT others(37): Show CAAGTATTAGGTTTGCTCATGTCATACTCTCAACAAGTAATACCA	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0011 a0003c0004t0011	a0003c0004t0011g0021 a0003c0004t0011g0021	1	208	0.0048	44	c.205 others(63): Show c.205-17742_205-17741insTGGTATTACTTGTTGAGAGTATGACA TGAGCAAACCTAATACTT	VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	1/26			chr1	TogoVar
VCPIP1_chr8_66623487_66672231	66638970	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0211 a0001c0002t0019g0211	1	86	0.0116	44	c.279 others(63): Show c.2798-3599_2798-3598insTATATATATATATATATATATATATA TATAGAGAGAGAGAGAGA	VCPIP1	ENSG00000175073.8	transcript	ENST00000310421.5	protein_coding	2/2			chr8	TogoVar
VCX2_chrX_8164944_8176267	8169109	C C	CCTCCCCC others(37): Show CCTCCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0006 a0002c0001t0002g0006	1	87	0.0115	44	c.92 others(53): Show c.922_*923insAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTG TGGGGGAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		834		chrX	TogoVar
VEGFB_chr11_64229584_64244264	64237109	G G	GAGAGAGA others(37): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18906.hp2 HG02257.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	2	320	0.0063	44	c.375 others(57): Show c.375-64_375-63insAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAAG AGAGAGAGAGAG	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
VENTX_chr10_133232855_133246928	133242485	G G	GCCTTCCT others(37): Show GCCTTCCTCACATCCCCACAGCCTGTTTCCGCTCTCCCCTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02970.hp1 HG02976.hp1 HG02258.hp2 HG02970.hp1 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0011 a0001c0008 a0002c0011	a0001c0008t0016 a0002c0011t0016 a0001c0008t0016 a0002c0011t0016	a0001c0008t0016g0014 a0002c0011t0016g0005 a0001c0008t0016g0014 a0002c0011t0016g0005	3	423	0.0071	44	c.21 others(55): Show c.2179_*2180insCCTTCCTCACATCCCCACAGCCTGTTTCCGCTCT CCCCTGGGGA	VENTX	ENSG00000151650.8	transcript	ENST00000325980.10	protein_coding		558		chr10	TogoVar
VEPH1_chr3_157254742_157508416	157304038	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATACATACACAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0294 a0002c0003t0002g0294	1	119	0.0084	44	c.201 others(63): Show c.2010+9582_2010+9583insGTGTGTATGTATATATATATATATAT ATATATATATATATATAT	VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	11/13			chr3	TogoVar
VEPH1_chr3_157254742_157508416	157304038	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG01257.hp1 others(3): Show HG00438.hp1 HG00544.hp1 HG01257.hp1 HG01433.hp2 HG03927.hp1 NA18944.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0002c0005 a0004c0012 a0002c0003 a0002c0005 a0004c0012	a0002c0003t0002 a0002c0005t0001 a0004c0012t0002 a0002c0003t0002 a0002c0005t0001 a0004c0012t0002	a0002c0003t0002g0033 a0002c0003t0002g0038 a0002c0003t0002g0233 others(3): Show a0002c0003t0002g0033 a0002c0003t0002g0038 a0002c0003t0002g0233 a0002c0005t0001g0053 a0002c0005t0001g0207 a0004c0012t0002g0140	6	124	0.0484	44	c.201 others(63): Show c.2010+9582_2010+9583insGTGTGTATATATATATATATATATAT ATATATATATATATATAT	VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	11/13			chr3	TogoVar
VEZF1_chr17_57966552_57993254	57970178	A A	ATTTTTTT others(37): Show ATTTTTTTTTGTTTTTTTTTTTTTGTTTTTTTTTTTTTTGTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG03942.hp1 HG00735.hp2 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0019 a0001c0002t0002g0003 a0001c0002t0002g0019	2	231	0.0087	44	c.42 others(55): Show c.4294_*4295insAAAAACAAAAAAAAAAAAAACAAAAAAAAAAAAA CAAAAAAAAA	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		1373		chr17	TogoVar
VEZF1_chr17_57966552_57993254	57970178	A A	ATTTTTTT others(37): Show ATTTTTTTTTGTTTTTTTTTTTTTGTTTTTTTTTTTTTTTGTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	230	0.0043	44	c.42 others(55): Show c.4294_*4295insAAAACAAAAAAAAAAAAAAACAAAAAAAAAAAAA CAAAAAAAAA	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		1373		chr17	TogoVar
VEZT_chr12_95212807_95307799	95307630	T T	TAAAAAAA others(37): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	424	0.0024	44	c.69 others(55): Show c.6957_*6958insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAAAAAAA	VEZT	ENSG00000028203.19	transcript	ENST00000436874.6	protein_coding		4832		chr12	TogoVar
VIPR2_chr7_159023175_159149867	159112691	A A	ACCTGGGA others(37): Show ACCTGGGACCGACCCTGACTGTGAGGAGGAGGCTCACGGCGCCTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0073 a0001c0002t0045g0073	1	334	0.0030	44	c.152 others(61): Show c.152-2773_152-2772insCAGGCGCCGTGAGCCTCCTCCTCACAGT CAGGGTCGGTCCCAGG	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VNN2_chr6_132738870_132762904	132750497	G G	GTGTATGT others(37): Show GTGTATGTATATATGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01255.hp2 HG01346.hp1 others(33): Show HG01069.hp2 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02083.hp2 HG02280.hp2 HG02523.hp1 HG02572.hp2 HG02622.hp1 HG02886.hp2 HG03225.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp2 NA18954.hp1 NA18957.hp2 NA18962.hp1 NA18963.hp1 NA18978.hp2 NA18981.hp2 NA18986.hp1 NA18994.hp1 NA19002.hp2 NA19054.hp1 NA19057.hp1 NA19065.hp2 NA19067.hp1 NA19079.hp1 NA19081.hp2 NA19087.hp2 NA20805.hp2	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0002 a0001c0005 a0004c0008 others(1): Show a0001c0002 a0001c0005 a0004c0008 a0011c0019	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0005t0001 a0004c0008t0001 a0011c0019t0001	a0001c0002t0001g0003 a0001c0002t0001g0010 a0001c0002t0001g0075 others(11): Show a0001c0002t0001g0003 a0001c0002t0001g0010 a0001c0002t0001g0075 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0163 a0001c0002t0001g0168 a0001c0002t0003g0169 a0001c0002t0004g0049 a0001c0005t0001g0047 a0001c0005t0001g0159 a0004c0008t0001g0132 a0011c0019t0001g0175	36	229	0.1572	44	c.120 others(61): Show c.1201-633_1201-632insTATATATATATATATATATATATATATA CACATATATACATACA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding	5/6			chr6	TogoVar
VNN2_chr6_132738870_132762904	132750497	G G	GTGTATGT others(37): Show GTGTATGTATATATGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA18956.hp1 NA19003.hp1 others(1): Show HG00741.hp2 NA18956.hp1 NA19003.hp1 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0141 a0001c0002t0001g0031 a0001c0002t0001g0141	4	197	0.0203	44	c.120 others(61): Show c.1201-633_1201-632insTATATATATATATATATATATATATACA CACATATATACATACA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding	5/6			chr6	TogoVar
VPS13A_chr9_77172534_77426537	77207237	A A	ATATACGT others(37): Show ATATACGTATATATATATATATATGTATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0287 a0001c0002t0001g0287	1	271	0.0037	44	c.385 others(61): Show c.385+1162_385+1163insCGTATATATATATATATATGTATATATA TATATATATACGTATA	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	5/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77207237	A A	ATATATAT others(37): Show ATATATATGTATATATATATATATATGTATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01346.hp2 HG01358.hp1 others(4): Show HG00140.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01943.hp1 NA18747.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0047 a0001c0002t0048 a0001c0002t0001 a0001c0002t0047 a0001c0002t0048	a0001c0002t0001g0281 a0001c0002t0001g0284 a0001c0002t0001g0323 others(4): Show a0001c0002t0001g0281 a0001c0002t0001g0284 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0326 a0001c0002t0047g0328 a0001c0002t0048g0302	7	277	0.0253	44	c.385 others(61): Show c.385+1165_385+1166insGTATATATATATATATATGTATATATAT ATATATACGTATATAT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	5/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77207237	A A	ATATATGT others(37): Show ATATATGTATATATATATATATATGTATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02040.hp1 HG02698.hp2 others(15): Show HG00673.hp1 HG02040.hp1 HG02698.hp2 HG03490.hp2 HG04184.hp1 NA18944.hp2 NA18946.hp2 NA18952.hp1 NA18955.hp2 NA18963.hp1 NA18967.hp2 NA18975.hp1 NA18986.hp1 NA18998.hp1 NA19000.hp1 NA19060.hp2 NA19068.hp2 NA19080.hp2	a0001 a0005 a0015 a0001 a0005 a0015	a0001c0001 a0001c0002 a0001c0011 others(2): Show a0001c0001 a0001c0002 a0001c0011 a0005c0012 a0015c0033	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0045 a0001c0011t0001 a0005c0012t0019 a0015c0033t0003	a0001c0001t0002g0101 a0001c0001t0003g0257 a0001c0001t0003g0267 others(15): Show a0001c0001t0002g0101 a0001c0001t0003g0257 a0001c0001t0003g0267 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0286 a0001c0001t0003g0288 a0001c0002t0001g0255 a0001c0002t0001g0258 a0001c0002t0001g0301 a0001c0002t0001g0307 a0001c0002t0001g0314 a0001c0002t0045g0263 a0001c0011t0001g0294 a0005c0012t0019g0271 a0005c0012t0019g0272 a0005c0012t0019g0273 a0015c0033t0003g0276	18	288	0.0625	44	c.385 others(61): Show c.385+1163_385+1164insGTATATATATATATATATGTATATATAT ATATATATACGTATAT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	5/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77207237	A A	ATATGTAT others(37): Show ATATGTATATATATATATATATGTATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0254	1	271	0.0037	44	c.385 others(61): Show c.385+1161_385+1162insGTATATATATATATATATGTATATATAT ATATATATATACGTAT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	5/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13B_chr8_99008274_99882580	99303730	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0003 a0015 a0003 a0015	a0003c0033 a0015c0032 a0003c0033 a0015c0032	a0003c0033t0006 a0015c0032t0006 a0003c0033t0006 a0015c0032t0006	a0003c0033t0006g0134 a0015c0032t0006g0133 a0003c0033t0006g0134 a0015c0032t0006g0133	2	48	0.0417	44	c.282 others(65): Show c.2824+28497_2824+28498insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13D_chr1_12225030_12517047	12396029	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATGTATT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0079 a0001c0008t0003g0079	1	74	0.0135	44	c.116 others(65): Show c.11635-4152_11635-4151insTATATATATATATATATATATATA TATATATATATATATGTATT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69			chr1	TogoVar
VPS13D_chr1_12225030_12517047	12433931	T T	TGAGAGAG others(37): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0006 a0006	a0006c0025 a0006c0025	a0006c0025t0003 a0006c0025t0003	a0006c0025t0003g0005 a0006c0025t0003g0005	1	113	0.0088	44	c.123 others(67): Show c.12333+17123_12333+17124insAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAG	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	65/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS26A_chr10_69119178_69179412	69137862	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0032 a0001c0002t0008g0032	1	313	0.0032	44	c.153 others(61): Show c.153+4835_153+4836insATATATATATATATATATATATATATAT ATATATATATATATAT	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS35L_chr16_19550703_19706163	19666919	T T	TCTTCCTT others(37): Show TCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	193	0.0052	44	c.222 others(63): Show c.2222-2238_2222-2237insCCTTTCTTCCTTTCTTCCTTTCTTCC TTTCTTCCTTTCTTCCTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19666927	T T	TCTTCCTT others(37): Show TCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03209.hp1 HG02109.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0002g0079 a0001c0001t0001g0015 a0001c0001t0002g0079	2	53	0.0377	44	c.222 others(63): Show c.2222-2230_2222-2229insCCTTTCTTCCTTTCTTCCTTTCTTCC TTTCTTCCTTTCTTCCTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS53_chr17_503668_719839	662834	A A	AAAGAGAA others(37): Show AAAGAGAAAGAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0050 a0001c0005t0050	a0001c0005t0050g0011 a0001c0005t0050g0011	1	94	0.0106	44	c.286 others(59): Show c.286-940_286-939insCCTTCCTTCCTTCCTTCCTTCCTTCCTTTC TTTCTCTTTCTCTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS8_chr3_184807166_185057604	184842186	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0215 a0002c0002t0001g0215	1	100	0.0100	44	c.536 others(61): Show c.536-1031_536-1030insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VSIR_chr10_71742556_71778520	71760104	T T	TATATATA others(37): Show TATATATACACACACACATATATACACACACACACACATATACAC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0091 a0002c0002t0001g0091	1	446	0.0022	44	c.568 others(59): Show c.568+763_568+764insGTGTATATGTGTGTGTGTGTGTATATATGT GTGTGTGTATATAT	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6			chr10	TogoVar
VTI1A_chr10_112442215_112823744	112455224	T T	TCCCTCCC others(37): Show TCCCTCCCCCCCCTCCCCTCACCTCCCTCCCCTCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0147	1	166	0.0060	44	c.95- others(59): Show c.95-5299_95-5298insCCTCCCCCCCCTCCCCTCACCTCCCTCCCC TCCCTCCCCTCCCC	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112618524	T T	TATATAGA others(37): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	2	0.5000	44	c.428 others(63): Show c.428-49693_428-49692insTATAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWC2_chr7_49768638_49926950	49877481	A A	AAAAAATA others(37): Show AAAAAATATACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	88	0.0114	44	c.827 others(63): Show c.827-34552_827-34551insAAAATATACATATATATATATATATA TATATATATATATATATA	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar

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