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
USP9X_chrX_41080445_41241579	41125684	A A	ACACACAC others(11): Show ACACACACACACACACTCT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02809.hp2 NA18962.hp1 others(1): Show HG02074.hp1 HG02809.hp2 NA18962.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0190 others(1): Show a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0190 a0001c0001t0001g0227	4	67	0.0597	18	c.96+ others(33): Show c.96+1961_96+1962insACACACACACACACTCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACACAC others(11): Show ACACACACACACACTCTCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19068.hp1 HG00438.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0206 a0001c0001t0001g0110 a0001c0001t0001g0206	2	65	0.0308	18	c.96+ others(33): Show c.96+1961_96+1962insACACACACACACTCTCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACACAC others(11): Show ACACACACACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG02486.hp1 others(3): Show HG00408.hp2 HG00558.hp2 HG02486.hp1 HG02738.hp1 NA18612.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0188 others(3): Show a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0188 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0006g0150	6	69	0.0870	18	c.96+ others(33): Show c.96+1961_96+1962insACACACACACTCTCTCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACACAC others(11): Show ACACACACACTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03139.hp1 NA18967.hp1 others(1): Show HG00558.hp1 HG03139.hp1 NA18967.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0214 others(1): Show a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0214 a0001c0001t0001g0224	4	67	0.0597	18	c.96+ others(33): Show c.96+1961_96+1962insACACACACTCTCTCTCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACACAC others(11): Show ACACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	64	0.0156	18	c.96+ others(33): Show c.96+1961_96+1962insACACACTCTCTCTCTCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41161635	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02922.hp2 HG01891.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0225 a0001c0001t0001g0226	2	96	0.0208	18	c.189 others(37): Show c.1898-1149_1898-1132dupTTTTTTTTTTTTTTTTTT	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	14/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
UST_chr6_148742030_149081990	148870104	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp2 NA19057.hp2 HG01891.hp2 HG02559.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0111 a0001c0001t0002g0114 a0001c0001t0003g0120 a0001c0001t0001g0111 a0001c0001t0002g0114 a0001c0001t0003g0120	3	22	0.1364	18	c.248 others(37): Show c.248-16861_248-16844dupCACACACACACACACACA	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UST_chr6_148742030_149081990	148870104	T T	TCTCACAC others(11): Show TCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG06807.hp1 HG02630.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0174 a0001c0001t0007g0165 a0001c0001t0001g0174 a0001c0001t0007g0165	2	21	0.0952	18	c.248 others(37): Show c.248-16881_248-16880insTCACACACACACACACAC	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UST_chr6_148742030_149081990	148871117	C C	CCTCTCTC others(11): Show CCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02895.hp2 others(4): Show HG01884.hp1 HG02280.hp2 HG02895.hp2 HG02970.hp1 HG03453.hp2 NA19043.hp2 NA19078.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0022 a0002c0002t0001	a0001c0001t0001g0062 a0001c0001t0001g0095 a0001c0001t0001g0096 others(4): Show a0001c0001t0001g0062 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0002g0106 a0001c0001t0011g0041 a0001c0001t0022g0012 a0002c0002t0001g0105	7	15	0.4667	18	c.248 others(37): Show c.248-15857_248-15840dupTCTCTCTCTCTCTCTCTC	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UST_chr6_148742030_149081990	148877624	A A	AGGGGTCG others(11): Show AGGGGTCGTGTATGAGTGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02895.hp1 HG03195.hp2 others(1): Show HG01192.hp2 HG02895.hp1 HG03195.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0067 a0001c0001t0001g0126 a0001c0001t0003g0164 others(1): Show a0001c0001t0001g0067 a0001c0001t0001g0126 a0001c0001t0003g0164 a0001c0001t0003g0175	4	200	0.0200	18	c.248 others(35): Show c.248-9344_248-9327dupTGGGGTCGTGTATGAGTG	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UST_chr6_148742030_149081990	149010913	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0087 a0001c0001t0005g0087	1	32	0.0313	18	c.682 others(35): Show c.682-8220_682-8219insAAAAAAAAAAACAAAAAA	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTP11_chr1_38007734_38029820	38012048	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02055.hp1 others(9): Show HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02257.hp1 HG02615.hp1 HG02970.hp2 HG03209.hp2 HG03516.hp2 HG03579.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0076 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0076 a0001c0001t0002g0027 a0001c0001t0004g0005 a0001c0001t0004g0090	12	154	0.0779	18	c.-75 others(27): Show c.-755_-754insTTTTTTTTTTTTTTTTTT	UTP11	ENSG00000183520.12	transcript	ENST00000373014.5	protein_coding		685		chr1	TogoVar
UTP11_chr1_38007734_38029820	38028953	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0037 a0001c0001t0007g0037	1	365	0.0027	18	c.53 others(29): Show c.5325_*5326insTGTGTGTGTGTGTGTGTA	UTP11	ENSG00000183520.12	transcript	ENST00000373014.5	protein_coding		4134		chr1	TogoVar
UTP20_chr12_101275105_101391618	101310577	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01243.hp2 others(1): Show HG01167.hp2 HG01169.hp1 HG01243.hp2 HG02145.hp1	a0007 a0014 a0007 a0014	a0007c0013 a0014c0024 a0007c0013 a0014c0024	a0007c0013t0001 a0014c0024t0001 a0007c0013t0001 a0014c0024t0001	a0007c0013t0001g0009 a0007c0013t0001g0011 a0014c0024t0001g0007 others(1): Show a0007c0013t0001g0009 a0007c0013t0001g0011 a0014c0024t0001g0007 a0014c0024t0001g0008	4	92	0.0435	18	c.223 others(35): Show c.2231+742_2231+759dupAAAAAAAAAAAAAAAAAA	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTP25_chr1_209822972_209862565	209824212	G G	GCACACAC others(11): Show GCACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01099.hp1 HG02738.hp2 others(9): Show HG00438.hp1 HG01099.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp2 NA18940.hp2 NA18947.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA19060.hp2 NA19082.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0005 a0003c0003t0009 others(2): Show a0001c0001t0003 a0003c0003t0005 a0003c0003t0009 a0003c0003t0028 a0003c0003t0043	a0001c0001t0003g0003 a0001c0001t0003g0152 a0001c0001t0003g0160 others(5): Show a0001c0001t0003g0003 a0001c0001t0003g0152 a0001c0001t0003g0160 a0003c0003t0005g0006 a0003c0003t0009g0016 a0003c0003t0009g0126 a0003c0003t0028g0041 a0003c0003t0043g0125	12	89	0.1348	18	c.-38 others(29): Show c.-3852_-3851insCACACACACACACACACA	UTP25	ENSG00000117597.18	transcript	ENST00000491415.7	protein_coding		3759		chr1	TogoVar
UTP6_chr17_31855904_31906708	31872825	A A	ATTACAAA others(11): Show ATTACAAAATTACAACATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0170	1	322	0.0031	18	c.149 others(35): Show c.1496+552_1496+553insCATGTTGTAATTTTGTAA	UTP6	ENSG00000108651.10	transcript	ENST00000261708.9	protein_coding	16/18			chr17	TogoVar
UTRN_chr6_144280335_144858034	144302509	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03209.hp1 NA19079.hp1 HG02559.hp1 HG03209.hp1 NA19079.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0002 a0002c0054 a0009c0042 a0001c0002 a0002c0054 a0009c0042	a0001c0002t0021 a0002c0054t0002 a0009c0042t0002 a0001c0002t0021 a0002c0054t0002 a0009c0042t0002	a0001c0002t0021g0050 a0002c0054t0002g0017 a0009c0042t0002g0083 a0001c0002t0021g0050 a0002c0054t0002g0017 a0009c0042t0002g0083	3	89	0.0337	18	c.79+ others(35): Show c.79+10611_79+10612insAAAAAAAAAAAAAAAAAA	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	2/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144469703	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02976.hp2 HG02559.hp1 HG02976.hp2	a0002 a0008 a0002 a0008	a0002c0054 a0008c0055 a0002c0054 a0008c0055	a0002c0054t0002 a0008c0055t0001 a0002c0054t0002 a0008c0055t0001	a0002c0054t0002g0017 a0008c0055t0001g0007 a0002c0054t0002g0017 a0008c0055t0001g0007	2	89	0.0225	18	c.306 others(37): Show c.3067-4006_3067-4005insTTTTTTTTTTTTTTTTTT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	23/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144471083	G G	GGGGAGGG others(11): Show GGGGAGGGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0028 a0001c0002t0006g0028	1	126	0.0079	18	c.306 others(37): Show c.3067-2631_3067-2614dupGGGGAGAGGGAGAGGGAG	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	23/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UVRAG_chr11_75810210_76149232	75815243	A A	ACGGCGGC others(11): Show ACGGCGGCAGCGGCGGCAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0115 a0002c0002t0015g0115	1	143	0.0070	18	c.-15 others(27): Show c.-157_-140dupAGCGGCGGCAGCGGCGGC	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	1/15	139	INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	75884226	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG02976.hp2 others(5): Show HG02109.hp2 HG02572.hp1 HG02976.hp2 HG03209.hp1 HG04204.hp1 NA18961.hp2 NA18999.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0023 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0023 a0002c0002t0007 a0002c0002t0014 a0002c0002t0034	a0001c0001t0001g0040 a0001c0001t0001g0056 a0001c0001t0004g0047 others(5): Show a0001c0001t0001g0040 a0001c0001t0001g0056 a0001c0001t0004g0047 a0001c0001t0023g0146 a0002c0002t0007g0127 a0002c0002t0007g0129 a0002c0002t0014g0138 a0002c0002t0034g0137	8	135	0.0593	18	c.432 others(35): Show c.432+4199_432+4200insCTCTTTCTCTCTCTCTCT	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	75884240	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0037 a0001c0001t0017g0037	1	120	0.0083	18	c.432 others(35): Show c.432+4215_432+4216insCTCTCTCTCTCTCTCTCT	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	75950963	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	58	0.0172	18	c.594 others(37): Show c.594-10457_594-10440dupCACACACACACACACACA	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	76053308	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03491.hp2 HG01243.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0143 a0001c0001t0004g0042 a0001c0001t0001g0143 a0001c0001t0004g0042	2	95	0.0211	18	c.122 others(39): Show c.1227-12384_1227-12367dupCACACACACACACACACA	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	76110211	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp1 HG02572.hp2 others(4): Show HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG03130.hp2 NA18961.hp2 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 a0002c0002t0007 a0002c0002t0025	a0001c0001t0001g0002 a0001c0001t0001g0040 a0001c0001t0001g0056 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0040 a0001c0001t0001g0056 a0001c0001t0003g0141 a0001c0001t0020g0003 a0002c0002t0007g0129 a0002c0002t0025g0091	7	91	0.0769	18	c.130 others(37): Show c.1306-5710_1306-5693dupATATATATATATATATAT	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	76136630	T T	TCACCACC others(11): Show TCACCACCATACCCAGCTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0082 a0002c0002t0024g0082	1	144	0.0069	18	c.139 others(37): Show c.1398-4081_1398-4080insCACCACCATACCCAGCTC	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	14/14			chr11	TogoVar
UVRAG_chr11_75810210_76149232	76140112	C C	CCTCCCTC others(11): Show CCTCCCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG06807.hp1 HG02630.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0140 a0001c0001t0003g0133 a0001c0001t0003g0140	2	91	0.0220	18	c.139 others(35): Show c.1398-596_1398-595insCCTCTCTCTCTCTCTCTC	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVSSA_chr4_1342208_1393049	1371256	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0124 a0002c0001t0001g0124	1	59	0.0169	18	c.128 others(37): Show c.1289-4090_1289-4073dupGTGTGTGTGTGTGTGTGT	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
UVSSA_chr4_1342208_1393049	1382931	T T	TGGCCATC others(11): Show TGGCCATCACAGTCCCATC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0262 a0001c0004t0001g0262	1	398	0.0025	18	c.186 others(35): Show c.1862-820_1862-819insATCGGCCATCACAGTCCC	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
UXT_chrX_47646796_47664180	47650530	A A	AGGTGGTG others(11): Show AGGTGGTGGTGGCGGTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01261.hp1 HG01993.hp1 HG01258.hp1 HG01261.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	286	0.0105	18	c.12 others(29): Show c.1294_*1311dupGCCACCGCCACCACCACC	UXT	ENSG00000126756.12	transcript	ENST00000333119.8	protein_coding		1265		chrX	TogoVar
VAC14_chr16_70682439_70806158	70753009	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0092 a0001c0004t0005g0092	1	281	0.0036	18	c.137 others(37): Show c.1372-8431_1372-8430insACACACACACACACACAC	VAC14	ENSG00000103043.15	transcript	ENST00000261776.10	protein_coding	12/18			chr16	TogoVar
VAC14_chr16_70682439_70806158	70761016	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0307 a0001c0003t0004g0307	1	303	0.0033	18	c.137 others(37): Show c.1371+1523_1371+1524insGCACACACACACACACAC	VAC14	ENSG00000103043.15	transcript	ENST00000261776.10	protein_coding	12/18			chr16	TogoVar
VAC14_chr16_70682439_70806158	70761023	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGCGTGCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0296 a0001c0001t0006g0296	1	314	0.0032	18	c.137 others(37): Show c.1371+1516_1371+1517insTGCACGCACACACACACA	VAC14	ENSG00000103043.15	transcript	ENST00000261776.10	protein_coding	12/18			chr16	TogoVar
VAMP1_chr12_6457237_6475677	6465383	T T	TATGTATA others(11): Show TATGTATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00597.hp1 others(57): Show HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG01257.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02155.hp1 HG02155.hp2 HG02738.hp2 HG03490.hp1 HG03669.hp2 HG03834.hp1 HG03927.hp2 NA18612.hp1 NA18939.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18982.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18999.hp1 NA19003.hp2 NA19005.hp1 NA19054.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19067.hp1 NA19081.hp2 NA19084.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0001 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0003 a0001c0001t0001g0033 a0001c0001t0001g0034 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0075 a0001c0001t0007g0009 a0001c0001t0007g0074 a0001c0001t0009g0015	60	433	0.1386	18	c.288 others(33): Show c.288+441_289-443dupTTATATATATATATACAT	VAMP1	ENSG00000139190.17	transcript	ENST00000396308.4	protein_coding	3/4			chr12	TogoVar
VAMP1_chr12_6457237_6475677	6465383	T T	TATGTATA others(11): Show TATGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp2 HG01099.hp2 others(7): Show HG00323.hp2 HG01070.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp1 HG01261.hp1 HG01934.hp1 HG02738.hp1 NA18977.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0076 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0076 a0001c0001t0031g0087	10	383	0.0261	18	c.289 others(33): Show c.289-443_289-442insGTATATATATATATACAT	VAMP1	ENSG00000139190.17	transcript	ENST00000396308.4	protein_coding	3/4			chr12	TogoVar
VAMP1_chr12_6457237_6475677	6465389	T T	TATATATA others(11): Show TATATATATATAAATGTAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03540.hp2 HG02717.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	444	0.0045	18	c.289 others(33): Show c.289-449_289-448insGTACATTTATATATATAT	VAMP1	ENSG00000139190.17	transcript	ENST00000396308.4	protein_coding	3/4			chr12	TogoVar
VAMP1_chr12_6457237_6475677	6465401	A A	AATGTATA others(11): Show AATGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0069 a0001c0001t0027g0069	1	440	0.0023	18	c.288 others(33): Show c.288+440_288+441insGTATATATATATATACAT	VAMP1	ENSG00000139190.17	transcript	ENST00000396308.4	protein_coding	3/4			chr12	TogoVar
VAMP1_chr12_6457237_6475677	6465411	T T	TATATATA others(11): Show TATATATAAATGTATATAC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	444	0.0023	18	c.288 others(33): Show c.288+430_288+431insGTATATACATTTATATAT	VAMP1	ENSG00000139190.17	transcript	ENST00000396308.4	protein_coding	3/4			chr12	TogoVar
VAMP2_chr17_8154149_8167948	8160377	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01175.hp1 NA18939.hp1 others(1): Show HG01081.hp2 HG01175.hp1 NA18939.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0040 a0001c0001t0022g0042 a0001c0001t0022g0040 a0001c0001t0022g0042	4	338	0.0118	18	c.47 others(27): Show c.477_*478insAAAAAAAAAAAAAAAAAA	VAMP2	ENSG00000220205.10	transcript	ENST00000316509.11	protein_coding	5/5	477		chr17	TogoVar
VAMP4_chr1_171695160_171747065	171703425	G G	GTATATAT others(11): Show GTATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0165 a0001c0001t0093g0165	1	115	0.0087	18	c.10 others(29): Show c.1063_*1080dupTATATATATATATATATA	VAMP4	ENSG00000117533.15	transcript	ENST00000236192.12	protein_coding	8/8	1080		chr1	TogoVar
VAMP8_chr2_85572586_85587031	85574861	T T	TTTATTAT others(11): Show TTTATTATTATGATTATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 NA19083.hp2 HG03669.hp2 NA19083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0003	2	259	0.0077	18	c.-27 others(29): Show c.-2786_-2785insTTATTATTATGATTATGA	VAMP8	ENSG00000118640.11	transcript	ENST00000263864.10	protein_coding		2724		chr2	TogoVar
VAMP8_chr2_85572586_85587031	85574861	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00558.hp2 others(55): Show HG00140.hp1 HG00408.hp2 HG00558.hp2 HG01167.hp1 HG01192.hp2 HG02015.hp1 HG02071.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02683.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03704.hp1 HG03834.hp1 NA18522.hp1 NA18939.hp2 NA18942.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18971.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA19002.hp2 NA19003.hp1 NA19043.hp2 NA19054.hp1 NA19064.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0004 a0001c0003t0002 others(1): Show a0001c0002t0002 a0001c0002t0004 a0001c0003t0002 a0001c0003t0003	a0001c0002t0002g0002 a0001c0002t0002g0005 a0001c0002t0002g0011 others(11): Show a0001c0002t0002g0002 a0001c0002t0002g0005 a0001c0002t0002g0011 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0024 a0001c0002t0004g0002 a0001c0003t0002g0002 a0001c0003t0002g0039 a0001c0003t0003g0010 a0001c0003t0003g0017 a0001c0003t0003g0037	58	315	0.1841	18	c.-27 others(29): Show c.-2786_-2785insTTATTATTATTATTATTA	VAMP8	ENSG00000118640.11	transcript	ENST00000263864.10	protein_coding		2724		chr2	TogoVar
VANGL2_chr1_160395564_160433670	160433302	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0175 a0001c0001t0023g0175	1	47	0.0213	18	c.79 others(29): Show c.7924_*7925insAGAGAGAGAGAGAGAGAG	VANGL2	ENSG00000162738.7	transcript	ENST00000368061.3	protein_coding		4633		chr1	TogoVar
VASP_chr19_45502479_45531983	45513468	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA19009.hp2 NA20300.hp2 NA18747.hp2 NA19009.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0329 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0001t0001g0329 a0001c0002t0001g0083 a0001c0002t0001g0084	3	147	0.0204	18	c.6-4 others(31): Show c.6-4191_6-4174dupTTTTTTTTTTTTTTTTTT	VASP	ENSG00000125753.15	transcript	ENST00000245932.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAT1L_chr16_77783564_77985107	77895100	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp2 HG01169.hp1 others(9): Show HG01099.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01433.hp1 HG03239.hp2 HG03516.hp2 NA18970.hp2 NA18980.hp1 NA18992.hp2 NA19087.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0032 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0032 a0001c0001t0043 a0001c0002t0004 a0001c0002t0013 a0001c0003t0001 a0001c0003t0015	a0001c0001t0002g0060 a0001c0001t0002g0109 a0001c0001t0002g0254 others(9): Show a0001c0001t0002g0060 a0001c0001t0002g0109 a0001c0001t0002g0254 a0001c0001t0005g0335 a0001c0001t0032g0225 a0001c0001t0043g0257 a0001c0002t0004g0278 a0001c0002t0013g0187 a0001c0002t0013g0189 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0015g0259	12	34	0.3529	18	c.107 others(39): Show c.1077+10315_1077+10316insACACACACACACACACAC	VAT1L	ENSG00000171724.3	transcript	ENST00000302536.3	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
VAT1L_chr16_77783564_77985107	77946279	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00609.hp2 others(17): Show HG00099.hp1 HG00438.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01175.hp1 HG01255.hp2 HG01261.hp2 HG02015.hp2 HG02080.hp2 NA18952.hp1 NA18961.hp1 NA18966.hp2 NA18989.hp2 NA18995.hp1 NA19010.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0003 a0001c0001t0035 a0001c0001t0039 others(2): Show a0001c0001t0003 a0001c0001t0035 a0001c0001t0039 a0001c0001t0043 a0003c0006t0003	a0001c0001t0003g0021 a0001c0001t0003g0035 a0001c0001t0003g0041 others(17): Show a0001c0001t0003g0021 a0001c0001t0003g0035 a0001c0001t0003g0041 a0001c0001t0003g0072 a0001c0001t0003g0079 a0001c0001t0003g0119 a0001c0001t0003g0128 a0001c0001t0003g0166 a0001c0001t0003g0202 a0001c0001t0003g0227 a0001c0001t0003g0237 a0001c0001t0003g0249 a0001c0001t0003g0293 a0001c0001t0003g0317 a0001c0001t0003g0330 a0001c0001t0003g0338 a0001c0001t0035g0182 a0001c0001t0039g0256 a0001c0001t0043g0257 a0003c0006t0003g0078	20	21	0.9524	18	c.107 others(39): Show c.1078-25566_1078-25549dupTTTTTTTTTTTTTTTTTT	VAT1L	ENSG00000171724.3	transcript	ENST00000302536.3	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
VAT1L_chr16_77783564_77985107	77950409	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03098.hp2 HG03139.hp1 others(2): Show HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0002t0004 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0002t0004 a0001c0002t0019	a0001c0001t0002g0016 a0001c0001t0007g0297 a0001c0002t0004g0033 others(2): Show a0001c0001t0002g0016 a0001c0001t0007g0297 a0001c0002t0004g0033 a0001c0002t0004g0114 a0001c0002t0019g0026	5	7	0.7143	18	c.107 others(39): Show c.1078-21411_1078-21394dupCACACACACACACACACA	VAT1L	ENSG00000171724.3	transcript	ENST00000302536.3	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
VAT1L_chr16_77783564_77985107	77964779	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	12	0.0833	18	c.107 others(37): Show c.1078-7056_1078-7039dupTTTTTTTTTTTTTTTTTT	VAT1L	ENSG00000171724.3	transcript	ENST00000302536.3	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
VAT1L_chr16_77783564_77985107	77975194	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03540.hp2 HG02559.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0093 a0001c0001t0006g0280 a0001c0001t0006g0093 a0001c0001t0006g0280	2	21	0.0952	18	c.116 others(37): Show c.1162-2386_1162-2369dupTTTTTTTTTTTTTTTTTT	VAT1L	ENSG00000171724.3	transcript	ENST00000302536.3	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
VAV1_chr19_6767708_6862361	6789260	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	292	0.0034	18	c.204 others(37): Show c.204+16261_204+16262insTTTTTTTTTTTTTTTTTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar

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