Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
UMOD_chr16_20328051_20357715	20345400	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0070 a0001c0003t0002g0070	1	404	0.0025	44	c.118 others(61): Show c.1182+725_1182+726insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAA	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UMOD_chr16_20328051_20357715	20345502	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0174 a0003c0007t0004g0174	1	404	0.0025	44	c.118 others(61): Show c.1182+623_1182+624insAAGGAAGGAAGGAAGGAAGGAAGGGAGG GAGGGAGGGAGGGAGG	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UNC13A_chr19_17596336_17693354	17631155	C C	CTCCCTCC others(37): Show CTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0223 a0001c0002t0004g0223	1	320	0.0031	44	c.342 others(61): Show c.3429-406_3429-405insAGGAGGGAGGGAGGGAGGGAAGGAGGGA GGGAGGGAGGGAGGGA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43			chr19	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	224	0.0045	44	c.152 others(59): Show c.152+979_152+980insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0119 a0001c0003t0009g0119	1	158	0.0063	44	c.493 others(65): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTATATATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0054 a0002c0019t0054	a0002c0019t0054g0059 a0002c0019t0054g0059	1	158	0.0063	44	c.493 others(65): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTATATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0128 a0001c0003t0005g0128	1	158	0.0063	44	c.493 others(65): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54524188	A A	AGATATGT others(37): Show AGATATGTTAATTTTCTCACTCTTATAGAAGTCTCTATCTGTTAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03225.hp1 NA20129.hp1 others(1): Show HG02818.hp1 HG03225.hp1 NA20129.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 a0001c0001 a0001c0002 a0003c0008	a0001c0001t0059 a0001c0002t0001 a0003c0008t0015 a0001c0001t0059 a0001c0002t0001 a0003c0008t0015	a0001c0001t0059g0147 a0001c0002t0001g0040 a0003c0008t0015g0091 others(1): Show a0001c0001t0059g0147 a0001c0002t0001g0040 a0003c0008t0015g0091 a0003c0008t0015g0105	4	158	0.0253	44	c.545 others(63): Show c.5458-1315_5458-1272dupATATGTTAATTTTCTCACTCTTATAG AAGTCTCTATCTGTTATG	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	24/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
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	158	0.0063	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	268	0.0037	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	a0001c0001t0002g0035 a0001c0001t0002g0035	1	268	0.0037	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	204	0.0147	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	204	0.0294	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	a0001c0001t0005g0297 a0001c0001t0005g0297	1	352	0.0028	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	a0003c0005t0002g0164 a0003c0005t0002g0164	1	420	0.0024	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	420	0.0024	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	a0001c0001t0002g0059 a0001c0001t0002g0059	1	420	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	a0003c0015t0012g0028 a0003c0015t0012g0028	1	338	0.0030	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	a0056 a0056	a0056c0012 a0056c0012	a0056c0012t0002 a0056c0012t0002	a0056c0012t0002g0005 a0056c0012t0002g0005	1	74	0.0135	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	a0027 a0027	a0027c0043 a0027c0043	a0027c0043t0002 a0027c0043t0002	a0027c0043t0002g0047 a0027c0043t0002g0047	1	74	0.0135	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	a0036 a0036	a0036c0044 a0036c0044	a0036c0044t0002 a0036c0044t0002	a0036c0044t0002g0073 a0036c0044t0002g0073	1	74	0.0135	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	300	0.0033	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	a0001c0001t0001g0050 a0001c0001t0001g0050	1	192	0.0052	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	380	0.0132	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	380	0.0026	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	380	0.0026	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	a0001c0003t0001g0028 a0001c0003t0001g0028	1	366	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	306	0.0033	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	306	0.0033	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	a0003c0004t0011g0020 a0003c0004t0011g0020	1	210	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	258	0.0039	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	a0002c0001t0002g0005 a0002c0001t0002g0005	1	115	0.0087	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	a0001c0001t0001g0032 a0001c0001t0001g0032	2	328	0.0061	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	a0001c0008t0021 a0002c0011t0021 a0001c0008t0021 a0002c0011t0021	a0001c0008t0021g0014 a0002c0011t0021g0005 a0001c0008t0021g0014 a0002c0011t0021g0005	3	428	0.0070	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	304	0.0033	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 a0002c0003t0002g0037 a0002c0003t0002g0235 others(3): Show a0002c0003t0002g0033 a0002c0003t0002g0037 a0002c0003t0002g0235 a0002c0005t0001g0050 a0002c0005t0001g0207 a0004c0012t0002g0138	6	304	0.0197	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 a0001c0002t0002g0018 a0001c0002t0002g0003 a0001c0002t0002g0018	2	274	0.0073	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	a0001c0002t0002g0018 a0001c0002t0002g0018	1	274	0.0037	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	426	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	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0070 a0001c0002t0044g0070	1	336	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 a0003 a0011 a0001 a0003 a0011	a0001c0002 a0001c0005 a0003c0008 others(1): Show a0001c0002 a0001c0005 a0003c0008 a0011c0019	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0005t0001 a0003c0008t0001 a0011c0019t0001	a0001c0002t0001g0003 a0001c0002t0001g0010 a0001c0002t0001g0075 others(11): Show a0001c0002t0001g0003 a0001c0002t0001g0010 a0001c0002t0001g0075 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0162 a0001c0002t0001g0167 a0001c0002t0003g0168 a0001c0002t0004g0049 a0001c0005t0001g0047 a0001c0005t0001g0158 a0003c0008t0001g0131 a0011c0019t0001g0176	36	436	0.0826	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	a0001c0002t0001g0030 a0001c0002t0001g0140 a0001c0002t0001g0030 a0001c0002t0001g0140	4	436	0.0092	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	a0001c0002t0001g0268 a0001c0002t0001g0268	1	348	0.0029	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	a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0324 others(4): Show a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0047g0327 a0001c0002t0048g0302	7	348	0.0201	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 a0020 a0001 a0005 a0020	a0001c0001 a0001c0002 a0001c0011 others(2): Show a0001c0001 a0001c0002 a0001c0011 a0005c0012 a0020c0033	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0045 a0001c0011t0001 a0005c0012t0019 a0020c0033t0003	a0001c0001t0002g0098 a0001c0001t0003g0257 a0001c0001t0003g0267 others(15): Show a0001c0001t0002g0098 a0001c0001t0003g0257 a0001c0001t0003g0267 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0002t0001g0255 a0001c0002t0001g0258 a0001c0002t0001g0299 a0001c0002t0001g0307 a0001c0002t0001g0314 a0001c0002t0045g0263 a0001c0011t0001g0292 a0005c0012t0019g0277 a0005c0012t0019g0278 a0005c0012t0019g0279 a0020c0033t0003g0280	18	348	0.0517	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	348	0.0029	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 a0010 a0003 a0010	a0003c0033 a0010c0032 a0003c0033 a0010c0032	a0003c0033t0006 a0010c0032t0006 a0003c0033t0006 a0010c0032t0006	a0003c0033t0006g0134 a0010c0032t0006g0133 a0003c0033t0006g0134 a0010c0032t0006g0133	2	134	0.0149	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	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0079 a0001c0008t0010g0079	1	154	0.0065	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	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0009 a0010c0025t0009	a0010c0025t0009g0005 a0010c0025t0009g0005	1	154	0.0065	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	a0001c0002t0008g0028 a0001c0002t0008g0028	1	336	0.0030	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

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