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
VPS41_chr7_38717974_38914191	38720548	G G	GTATGTAT others(9): Show GTATGTATATGTATGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02647.hp2 HG03486.hp2 others(2): Show HG02523.hp1 HG02647.hp2 HG03486.hp2 HG03710.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0018 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0018 a0001c0001t0024	a0001c0001t0003g0218 a0001c0001t0003g0251 a0001c0001t0006g0254 others(2): Show a0001c0001t0003g0218 a0001c0001t0003g0251 a0001c0001t0006g0254 a0001c0001t0018g0237 a0001c0001t0024g0203	5	247	0.0202	16	c.56 others(27): Show c.5697_*5698insTACATACATATACATA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2425		chr7	TogoVar
VPS41_chr7_38717974_38914191	38723723	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG03130.hp2 NA18974.hp2 others(2): Show HG00735.hp1 HG03130.hp2 NA18974.hp2 NA19056.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0080 a0001c0001t0013g0081 a0001c0001t0013g0212 others(2): Show a0001c0001t0013g0080 a0001c0001t0013g0081 a0001c0001t0013g0212 a0001c0001t0013g0231 a0001c0001t0013g0232	5	76	0.0658	16	c.25 others(27): Show c.2507_*2522dupTTTTTTTTTTTTTTTT	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding	29/29	2522		chr7	TogoVar
VPS4B_chr18_63384190_63427476	63387112	A A	ACACACAC others(9): Show ACACACACACACACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG03927.hp1 NA19060.hp1 HG01516.hp2 HG03927.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0138 a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0138	3	262	0.0115	16	c.38 others(27): Show c.3862_*3863insGGTGTGTGTGTGTGTG	VPS4B	ENSG00000119541.10	transcript	ENST00000238497.10	protein_coding		2077		chr18	TogoVar
VPS50_chr7_93227366_93366123	93364410	T T	TCACACAC others(9): Show TCACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01167.hp1 HG01169.hp2 others(2): Show HG01069.hp1 HG01167.hp1 HG01169.hp2 HG02080.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0010 a0001c0004t0002 a0001c0001t0002 a0001c0001t0010 a0001c0004t0002	a0001c0001t0002g0124 a0001c0001t0010g0107 a0001c0001t0010g0108 others(2): Show a0001c0001t0002g0124 a0001c0001t0010g0107 a0001c0001t0010g0108 a0001c0001t0010g0119 a0001c0004t0002g0215	5	173	0.0289	16	c.59 others(27): Show c.5974_*5975insCACACACACACACACA	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding		3288		chr7	TogoVar
VPS50_chr7_93227366_93366123	93364437	C C	CACACACA others(9): Show CACACACACACACACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03579.hp2 HG02970.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0299 a0001c0001t0002g0300	2	294	0.0068	16	c.60 others(27): Show c.6001_*6002insACACACACACACACAG	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding		3315		chr7	TogoVar
VPS52_chr6_33245278_33276876	33263384	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	306	0.0033	16	c.179 others(31): Show c.1794+84_1794+99dupGTGTGTGTGTGTGTGT	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS52_chr6_33245278_33276876	33263414	C C	CACACACA others(9): Show CACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01168.hp2 HG01175.hp1 others(27): Show HG00544.hp1 HG01168.hp2 HG01175.hp1 HG01361.hp1 HG01928.hp1 HG01943.hp2 HG02074.hp1 HG02698.hp2 HG02723.hp2 HG03654.hp2 HG03688.hp1 HG03942.hp1 HG04115.hp1 NA18612.hp1 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18956.hp2 NA18959.hp1 NA18963.hp1 NA18969.hp2 NA18990.hp1 NA18992.hp1 NA19002.hp2 NA19056.hp2 NA19070.hp2 NA19081.hp1 NA19089.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0011 a0001c0002t0001 a0001c0002t0004 a0001c0002t0011	a0001c0002t0001g0008 a0001c0002t0001g0012 a0001c0002t0001g0013 others(18): Show a0001c0002t0001g0008 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0023 a0001c0002t0001g0029 a0001c0002t0001g0084 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0147 a0001c0002t0004g0083 a0001c0002t0004g0102 a0001c0002t0004g0112 a0001c0002t0004g0116 a0001c0002t0011g0238	30	157	0.1911	16	c.179 others(31): Show c.1794+69_1794+70insCTGTGTGTGTGTGTGT	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS53_chr17_503668_719839	543783	A A	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02280.hp1 others(13): Show HG01884.hp1 HG02145.hp2 HG02280.hp1 HG02572.hp2 HG02602.hp1 HG02886.hp2 HG03225.hp1 HG03225.hp2 NA18944.hp1 NA18960.hp2 NA18994.hp1 NA18994.hp2 NA19009.hp1 NA19010.hp2 NA19084.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0003c0004	a0001c0001t0016 a0001c0001t0085 a0001c0001t0092 others(12): Show a0001c0001t0016 a0001c0001t0085 a0001c0001t0092 a0001c0001t0093 a0001c0001t0099 a0001c0002t0010 a0001c0002t0021 a0001c0002t0045 a0001c0002t0053 a0001c0002t0054 a0001c0005t0010 a0001c0005t0021 a0001c0005t0046 a0001c0005t0050 a0003c0004t0051	a0001c0001t0016g0205 a0001c0001t0016g0206 a0001c0001t0085g0152 others(13): Show a0001c0001t0016g0205 a0001c0001t0016g0206 a0001c0001t0085g0152 a0001c0001t0092g0145 a0001c0001t0093g0146 a0001c0001t0099g0220 a0001c0002t0010g0057 a0001c0002t0021g0087 a0001c0002t0045g0064 a0001c0002t0053g0048 a0001c0002t0054g0049 a0001c0005t0010g0007 a0001c0005t0021g0006 a0001c0005t0046g0096 a0001c0005t0050g0011 a0003c0004t0051g0017	16	91	0.1758	16	c.186 others(35): Show c.1867-6623_1867-6608dupCTTCCTTCCTTCCTTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	543813	A A	AAGGAAGG others(9): Show AAGGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG04199.hp1 HG01346.hp2 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0114 a0002c0003t0137 a0001c0001t0114 a0002c0003t0137	a0001c0001t0114g0195 a0002c0003t0137g0187 a0001c0001t0114g0195 a0002c0003t0137g0187	2	198	0.0101	16	c.186 others(35): Show c.1867-6638_1867-6637insCCCTTCCTTCCTTCCT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	597972	C C	CCCCACGG others(9): Show CCCCACGGTCTCCCTCT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0179 a0002c0003t0018g0179	1	230	0.0043	16	c.121 others(35): Show c.1218+3807_1218+3822dupAGAGGGAGACCGTGGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
VPS53_chr17_503668_719839	655315	T T	TAAAAAGT others(9): Show TAAAAAGTAGATTGAAA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0077 a0001c0002t0014g0077	1	2	0.5000	16	c.488 others(31): Show c.488+522_488+523insTTTCAATCTACTTTTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	6/21			chr17	TogoVar
VPS53_chr17_503668_719839	662751	G G	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0016 a0003c0004t0006g0016	1	125	0.0080	16	c.286 others(31): Show c.286-872_286-857dupTTCTTTCTTTCTTTCT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS53_chr17_503668_719839	662806	A A	AAAAAAAG others(9): Show AAAAAAAGAAGAGAAAG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0049 a0001c0005t0049	a0001c0005t0049g0010 a0001c0005t0049g0010	1	230	0.0043	16	c.286 others(31): Show c.286-912_286-911insCTTTCTCTTCTTTTTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS53_chr17_503668_719839	669592	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG01081.hp2 others(11): Show HG00099.hp2 HG00280.hp2 HG01081.hp2 HG01099.hp2 HG01168.hp2 HG01192.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01978.hp2 HG03491.hp1 HG03492.hp1 NA18948.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(2): Show a0001c0001 a0001c0005 a0001c0006 a0001c0007 a0001c0016	a0001c0001t0113 a0001c0005t0049 a0001c0006t0001 others(9): Show a0001c0001t0113 a0001c0005t0049 a0001c0006t0001 a0001c0006t0022 a0001c0006t0025 a0001c0006t0041 a0001c0006t0057 a0001c0006t0060 a0001c0007t0011 a0001c0007t0012 a0001c0007t0024 a0001c0016t0056	a0001c0001t0113g0230 a0001c0005t0049g0010 a0001c0006t0001g0097 others(11): Show a0001c0001t0113g0230 a0001c0005t0049g0010 a0001c0006t0001g0097 a0001c0006t0022g0100 a0001c0006t0022g0101 a0001c0006t0025g0098 a0001c0006t0041g0003 a0001c0006t0057g0102 a0001c0006t0060g0103 a0001c0007t0011g0105 a0001c0007t0011g0106 a0001c0007t0012g0111 a0001c0007t0024g0109 a0001c0016t0056g0099	14	100	0.1400	16	c.286 others(33): Show c.286-7713_286-7698dupTTTTTTTTTTTTTTTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS53_chr17_503668_719839	672109	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG04184.hp2 HG00423.hp1 HG00438.hp2 HG04184.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0008 a0001c0001 a0002c0003 a0004c0008	a0001c0001t0116 a0002c0003t0096 a0004c0008t0039 a0001c0001t0116 a0002c0003t0096 a0004c0008t0039	a0001c0001t0116g0211 a0002c0003t0096g0192 a0004c0008t0039g0207 a0001c0001t0116g0211 a0002c0003t0096g0192 a0004c0008t0039g0207	3	19	0.1579	16	c.286 others(35): Show c.286-10230_286-10215dupGTGTGTGTGTGTGTGT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS53_chr17_503668_719839	672175	A A	ATCTCTCT others(9): Show ATCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01978.hp1 HG04204.hp2 others(1): Show HG01515.hp2 HG01978.hp1 HG04204.hp2 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0002t0028 a0001c0006t0025 others(1): Show a0001c0002t0001 a0001c0002t0028 a0001c0006t0025 a0001c0006t0041	a0001c0002t0001g0066 a0001c0002t0028g0075 a0001c0006t0025g0098 others(1): Show a0001c0002t0001g0066 a0001c0002t0028g0075 a0001c0006t0025g0098 a0001c0006t0041g0003	4	14	0.2857	16	c.286 others(35): Show c.286-10296_286-10281dupGAGAGAGAGAGAGAGA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS54_chr2_63887150_64024428	63938059	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG01261.hp1 others(27): Show HG00140.hp2 HG00323.hp2 HG01261.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp2 HG03540.hp1 NA18906.hp1 NA19043.hp1 NA19063.hp1 NA20129.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0003c0005t0001 a0003c0005t0006 a0003c0005t0009	a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0042 others(27): Show a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0002g0044 a0001c0004t0001g0024 a0001c0004t0001g0046 a0001c0004t0001g0047 a0001c0004t0001g0048 a0001c0004t0001g0049 a0001c0004t0001g0050 a0001c0004t0001g0051 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0190 a0001c0004t0001g0191 a0003c0005t0001g0005 a0003c0005t0001g0007 a0003c0005t0001g0009 a0003c0005t0001g0011 a0003c0005t0001g0012 a0003c0005t0001g0013 a0003c0005t0001g0174 a0003c0005t0006g0006 a0003c0005t0006g0008 a0003c0005t0009g0004	30	132	0.2273	16	c.139 others(35): Show c.1399-4062_1399-4047dupACACACACACACACAC	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	11/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	63938059	G G	GTGGTGTG others(9): Show GTGGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	103	0.0097	16	c.139 others(35): Show c.1399-4047_1399-4046insACACACACACACACCA	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	11/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	63967718	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02145.hp1 others(7): Show HG01243.hp1 HG02109.hp1 HG02145.hp1 HG02630.hp2 HG02735.hp1 HG02970.hp2 HG03130.hp1 HG03471.hp2 NA18906.hp1 NA18980.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0003c0005t0006 others(1): Show a0001c0001t0001 a0003c0005t0001 a0003c0005t0006 a0003c0005t0009	a0001c0001t0001g0022 a0001c0001t0001g0056 a0001c0001t0001g0064 others(7): Show a0001c0001t0001g0022 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0090 a0003c0005t0001g0005 a0003c0005t0001g0007 a0003c0005t0001g0174 a0003c0005t0006g0006 a0003c0005t0006g0008 a0003c0005t0009g0004	10	119	0.0840	16	c.492 others(33): Show c.492+1223_492+1238dupTTTTTTTTTTTTTTTT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	5/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	63970288	T T	TATATAGA others(9): Show TATATAGATATATATAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	302	0.0033	16	c.458 others(33): Show c.458-1313_458-1298dupCTATATATATCTATAT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	4/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	64020148	G G	GACACACA others(9): Show GACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02055.hp1 HG02280.hp1 others(10): Show HG00738.hp1 HG02055.hp1 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02717.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG03491.hp1 HG03492.hp1 NA19030.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0006 a0001c0001 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0002c0006t0001	a0001c0001t0001g0043 a0001c0001t0001g0109 a0001c0001t0001g0166 others(10): Show a0001c0001t0001g0043 a0001c0001t0001g0109 a0001c0001t0001g0166 a0001c0001t0001g0261 a0001c0003t0001g0182 a0001c0003t0003g0285 a0001c0003t0003g0287 a0001c0003t0003g0288 a0001c0003t0003g0289 a0001c0003t0003g0290 a0001c0003t0003g0299 a0001c0003t0003g0300 a0002c0006t0001g0175	13	93	0.1398	16	c.-12 others(27): Show c.-1232_-1231insGTGTGTGTGTGTGTGT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding		721		chr2	TogoVar
VPS8_chr3_184807166_185057604	184842186	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA20905.hp2 HG03834.hp2 NA20905.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0003 a0002c0002 a0004c0003	a0002c0002t0001 a0004c0003t0001 a0002c0002t0001 a0004c0003t0001	a0002c0002t0001g0213 a0004c0003t0001g0208 a0002c0002t0001g0213 a0004c0003t0001g0208	2	101	0.0198	16	c.536 others(33): Show c.536-1046_536-1031dupAAAAAAAAAAAAAAAA	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184842209	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	272	0.0037	16	c.536 others(33): Show c.536-1031_536-1030insAAAAAAAAAAAAAAAG	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	7/47			chr3	TogoVar
VPS8_chr3_184807166_185057604	184894508	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19068.hp2 NA18954.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0136 a0001c0001t0002g0123 a0001c0001t0002g0136	2	193	0.0104	16	c.178 others(33): Show c.1782-186_1782-171dupTATATATATATATATA	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	22/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184926376	C C	CAATAAAT others(9): Show CAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02717.hp1 others(6): Show HG02257.hp1 HG02559.hp2 HG02717.hp1 HG02970.hp1 HG03041.hp2 HG03139.hp1 HG03453.hp1 HG06807.hp2 NA18522.hp1	a0004 a0006 a0004 a0006	a0004c0003 a0006c0007 a0006c0034 a0004c0003 a0006c0007 a0006c0034	a0004c0003t0003 a0006c0007t0001 a0006c0034t0001 a0004c0003t0003 a0006c0007t0001 a0006c0034t0001	a0004c0003t0003g0033 a0004c0003t0003g0034 a0004c0003t0003g0040 others(6): Show a0004c0003t0003g0033 a0004c0003t0003g0034 a0004c0003t0003g0040 a0004c0003t0003g0042 a0006c0007t0001g0035 a0006c0007t0001g0036 a0006c0007t0001g0037 a0006c0007t0001g0038 a0006c0034t0001g0039	9	218	0.0413	16	c.257 others(33): Show c.2575-205_2575-190dupAATAAATAAATAAATA	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	30/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	185031062	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0001 a0004c0018t0001	a0004c0018t0001g0059 a0004c0018t0001g0059	1	272	0.0037	16	c.405 others(35): Show c.4056+6673_4056+6674insTTTTTTTTTTTTTTTT	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	46/47			chr3	TogoVar
VRK1_chr14_96792382_96886609	96808002	C C	CCTCTCTC others(9): Show CCTCTCTCCGTCTCTCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02976.hp2 HG03540.hp1 others(1): Show HG02970.hp1 HG02976.hp2 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0109 a0001c0003t0001g0081 a0001c0003t0001g0093 others(1): Show a0001c0002t0001g0109 a0001c0003t0001g0081 a0001c0003t0001g0093 a0001c0003t0001g0094	4	174	0.0230	16	c.-6+ others(33): Show c.-6+10562_-6+10563insCGTCTCTCTCTCTCTC	VRK1	ENSG00000100749.9	transcript	ENST00000216639.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
VRK2_chr2_58041806_58164871	58120184	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01069.hp2 others(13): Show HG00099.hp1 HG00323.hp2 HG01069.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG02559.hp2 HG02886.hp1 HG03834.hp2 HG04115.hp2 NA18941.hp1 NA18970.hp1 NA19000.hp1 NA19010.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0050 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0050 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0255 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0284 a0001c0001t0001g0292 a0001c0001t0002g0286	16	140	0.1143	16	c.544 others(33): Show c.544-2908_544-2893dupTTTTTTTTTTTTTTTT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58151731	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02976.hp1 HG03139.hp1 others(1): Show HG02071.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0159 a0001c0003t0001g0256 a0002c0002t0001g0150 others(1): Show a0001c0001t0001g0159 a0001c0003t0001g0256 a0002c0002t0001g0150 a0002c0002t0002g0059	4	29	0.1379	16	c.118 others(35): Show c.1182+5278_1182+5293dupTTTTTTTTTTTTTTTT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK3_chr19_49971468_50030372	50019674	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	17	0.0588	16	c.-2+ others(29): Show c.-2+895_-2+910dupAAAAAAAAAAAAAAAA	VRK3	ENSG00000105053.11	transcript	ENST00000316763.8	protein_coding	2/14			chr19	TogoVar
VRTN_chr14_74343471_74365008	74344244	T T	TCCAAAAA others(9): Show TCCAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02083.hp1 NA18943.hp1 others(7): Show HG02074.hp1 HG02083.hp1 NA18943.hp1 NA18951.hp1 NA18955.hp1 NA18961.hp1 NA18990.hp1 NA18991.hp2 NA18999.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0076 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0076 a0001c0001t0002g0083 a0001c0001t0006g0008 a0001c0001t0006g0095	10	402	0.0249	16	c.-44 others(27): Show c.-4410_-4409insCCAAAAAAAAAAAAAA	VRTN	ENSG00000133980.5	transcript	ENST00000256362.5	protein_coding		4226		chr14	TogoVar
VRTN_chr14_74343471_74365008	74344246	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG00735.hp1 others(49): Show HG00140.hp2 HG00609.hp1 HG00735.hp1 HG01081.hp1 HG01109.hp1 HG01261.hp1 HG01496.hp1 HG01516.hp1 HG01952.hp2 HG01978.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02300.hp2 HG02572.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 NA18949.hp2 NA18953.hp1 NA18960.hp2 NA18967.hp2 NA18980.hp1 NA18992.hp1 NA18993.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19054.hp1 NA19056.hp2 NA19089.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0007 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003 a0001c0006t0001 a0002c0007t0001 a0003c0009t0002	a0001c0001t0001g0002 a0001c0001t0001g0053 a0001c0001t0001g0082 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0023 a0001c0001t0002g0031 a0001c0001t0003g0009 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0087 a0001c0001t0010g0002 a0001c0002t0001g0017 a0001c0002t0001g0033 a0001c0002t0001g0054 a0001c0002t0001g0088 a0001c0002t0003g0009 a0001c0006t0001g0056 a0002c0007t0001g0039 a0003c0009t0002g0001	52	55	0.9455	16	c.-44 others(27): Show c.-4408_-4407insAAAAAAAAAAAAAAAA	VRTN	ENSG00000133980.5	transcript	ENST00000256362.5	protein_coding		4224		chr14	TogoVar
VRTN_chr14_74343471_74365008	74344733	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(20): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00621.hp1 HG00673.hp1 HG01109.hp1 HG01928.hp1 HG02145.hp1 HG02572.hp1 HG02615.hp2 HG02809.hp1 HG03209.hp1 HG03486.hp1 HG03579.hp2 HG06807.hp1 NA18943.hp1 NA18989.hp2 NA19000.hp1 NA19081.hp1 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0005t0001 a0001c0008t0001	a0001c0001t0001g0011 a0001c0001t0001g0073 a0001c0001t0002g0001 others(13): Show a0001c0001t0001g0011 a0001c0001t0001g0073 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0020 a0001c0001t0002g0032 a0001c0001t0002g0047 a0001c0001t0002g0084 a0001c0001t0003g0021 a0001c0001t0006g0008 a0001c0002t0001g0017 a0001c0002t0001g0033 a0001c0002t0001g0054 a0001c0002t0001g0088 a0001c0005t0001g0037 a0001c0008t0001g0030	23	93	0.2473	16	c.-39 others(27): Show c.-3921_-3920insAAAAAAAAAAAAAAAA	VRTN	ENSG00000133980.5	transcript	ENST00000256362.5	protein_coding		3737		chr14	TogoVar
VRTN_chr14_74343471_74365008	74344743	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	413	0.0024	16	c.-39 others(27): Show c.-3911_-3910insAAAAAAAAAAAAAAAG	VRTN	ENSG00000133980.5	transcript	ENST00000256362.5	protein_coding		3727		chr14	TogoVar
VSIG10L2_chr11_125941044_125961319	125958561	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0004 a0004c0004t0001g0004	1	420	0.0024	16	c.26 others(27): Show c.2647_*2648insTGTGTGTGTGTGTGTG	VSIG10L2	ENSG00000283703.3	transcript	ENST00000686984.1	protein_coding		2243		chr11	TogoVar
VSIG10L2_chr11_125941044_125961319	125958563	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18951.hp1 NA18944.hp1 NA18951.hp1	a0004 a0004	a0004c0008 a0004c0023 a0004c0008 a0004c0023	a0004c0008t0001 a0004c0023t0001 a0004c0008t0001 a0004c0023t0001	a0004c0008t0001g0004 a0004c0023t0001g0004 a0004c0008t0001g0004 a0004c0023t0001g0004	2	331	0.0060	16	c.26 others(27): Show c.2649_*2650insTGTGTGTGTGTGTGTG	VSIG10L2	ENSG00000283703.3	transcript	ENST00000686984.1	protein_coding		2245		chr11	TogoVar
VSIG10L2_chr11_125941044_125961319	125958565	A A	ATATATAT others(9): Show ATATATATGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19063.hp2 NA19005.hp2 NA19063.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0002 a0002c0001t0001g0002	2	95	0.0211	16	c.26 others(27): Show c.2651_*2652insTATATATGTGTGTGTG	VSIG10L2	ENSG00000283703.3	transcript	ENST00000686984.1	protein_coding		2247		chr11	TogoVar
VSIG10L2_chr11_125941044_125961319	125958565	A A	ATATATGT others(9): Show ATATATGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0007 a0005c0011t0001g0007	1	94	0.0106	16	c.26 others(27): Show c.2651_*2652insTATATGTGTGTGTGTG	VSIG10L2	ENSG00000283703.3	transcript	ENST00000686984.1	protein_coding		2247		chr11	TogoVar
VSIG10L2_chr11_125941044_125961319	125958565	A A	ATATGTGT others(9): Show ATATGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02809.hp1 HG03486.hp1 HG02723.hp2 HG02809.hp1 HG03486.hp1	a0005 a0013 a0014 a0005 a0013 a0014	a0005c0011 a0013c0022 a0014c0035 a0005c0011 a0013c0022 a0014c0035	a0005c0011t0001 a0013c0022t0001 a0014c0035t0001 a0005c0011t0001 a0013c0022t0001 a0014c0035t0001	a0005c0011t0001g0007 a0013c0022t0001g0051 a0014c0035t0001g0066 a0005c0011t0001g0007 a0013c0022t0001g0051 a0014c0035t0001g0066	3	96	0.0313	16	c.26 others(27): Show c.2651_*2652insTATGTGTGTGTGTGTG	VSIG10L2	ENSG00000283703.3	transcript	ENST00000686984.1	protein_coding		2247		chr11	TogoVar
VSIG10L_chr19_51326541_51347139	51328339	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0013 a0003c0005t0001g0013	1	385	0.0026	16	c.42 others(27): Show c.4271_*4272insTTTTTTTTTTTTTTTT	VSIG10L	ENSG00000186806.6	transcript	ENST00000335624.5	protein_coding		3201		chr19	TogoVar
VSIG10_chr12_118058593_118109011	118062675	A A	ACGTCCTT others(9): Show ACGTCCTTCCTGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(161): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19074.hp2 NA19085.hp2 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0011	a0001c0002 a0001c0004 a0001c0008 others(21): Show a0001c0002 a0001c0004 a0001c0008 a0001c0009 a0001c0025 a0001c0033 a0001c0042 a0002c0001 a0002c0003 a0002c0010 a0002c0030 a0003c0005 a0003c0006 a0003c0014 a0003c0015 a0003c0019 a0003c0024 a0004c0007 a0004c0012 a0005c0016 a0005c0020 a0008c0023 a0009c0039 a0011c0040	a0001c0002t0003 a0001c0002t0009 a0001c0002t0016 others(69): Show a0001c0002t0003 a0001c0002t0009 a0001c0002t0016 a0001c0002t0018 a0001c0002t0020 a0001c0002t0021 a0001c0002t0030 a0001c0002t0040 a0001c0002t0042 a0001c0002t0067 a0001c0004t0001 a0001c0004t0003 a0001c0004t0009 a0001c0004t0013 a0001c0004t0017 a0001c0004t0018 a0001c0004t0078 a0001c0008t0010 a0001c0008t0011 a0001c0008t0025 a0001c0008t0034 a0001c0009t0010 a0001c0009t0034 a0001c0009t0049 a0001c0025t0011 a0001c0033t0093 a0001c0042t0061 a0002c0001t0001 a0002c0001t0004 a0002c0001t0012 a0002c0001t0014 a0002c0001t0056 a0002c0003t0001 a0002c0003t0004 a0002c0003t0007 a0002c0003t0012 a0002c0003t0014 a0002c0003t0026 a0002c0003t0059 a0002c0010t0001 a0002c0010t0057 a0002c0030t0064 a0003c0005t0002 a0003c0005t0005 a0003c0005t0015 a0003c0005t0031 a0003c0005t0097 a0003c0006t0002 a0003c0006t0005 a0003c0006t0015 a0003c0006t0026 a0003c0006t0043 a0003c0006t0095 a0003c0014t0015 a0003c0015t0063 a0003c0019t0017 a0003c0019t0041 a0003c0019t0085 a0003c0024t0041 a0004c0007t0008 a0004c0007t0017 a0004c0007t0020 a0004c0007t0021 a0004c0007t0022 a0004c0012t0008 a0004c0012t0029 a0005c0016t0019 a0005c0020t0019 a0005c0020t0035 a0008c0023t0051 a0009c0039t0010 a0011c0040t0002	a0001c0002t0003g0033 a0001c0002t0003g0048 a0001c0002t0003g0060 others(157): Show a0001c0002t0003g0033 a0001c0002t0003g0048 a0001c0002t0003g0060 a0001c0002t0003g0155 a0001c0002t0003g0278 a0001c0002t0003g0350 a0001c0002t0003g0358 a0001c0002t0003g0381 a0001c0002t0009g0021 a0001c0002t0009g0329 a0001c0002t0016g0368 a0001c0002t0018g0058 a0001c0002t0018g0279 a0001c0002t0020g0011 a0001c0002t0021g0328 a0001c0002t0030g0038 a0001c0002t0030g0366 a0001c0002t0040g0280 a0001c0002t0042g0193 a0001c0002t0042g0384 a0001c0002t0067g0041 a0001c0004t0001g0065 a0001c0004t0003g0210 a0001c0004t0003g0241 a0001c0004t0003g0378 a0001c0004t0009g0140 a0001c0004t0009g0146 a0001c0004t0009g0233 a0001c0004t0009g0251 a0001c0004t0009g0323 a0001c0004t0009g0327 a0001c0004t0013g0253 a0001c0004t0017g0084 a0001c0004t0018g0246 a0001c0004t0078g0322 a0001c0008t0010g0031 a0001c0008t0011g0030 a0001c0008t0025g0090 a0001c0008t0034g0296 a0001c0009t0010g0001 a0001c0009t0010g0159 a0001c0009t0010g0160 a0001c0009t0034g0111 a0001c0009t0049g0029 a0001c0025t0011g0086 a0001c0025t0011g0088 a0001c0033t0093g0227 a0001c0042t0061g0091 a0002c0001t0001g0006 a0002c0001t0001g0079 a0002c0001t0001g0103 a0002c0001t0001g0117 a0002c0001t0001g0129 a0002c0001t0001g0144 a0002c0001t0001g0147 a0002c0001t0001g0191 a0002c0001t0001g0197 a0002c0001t0001g0198 a0002c0001t0001g0200 a0002c0001t0001g0202 a0002c0001t0001g0272 a0002c0001t0001g0283 a0002c0001t0001g0319 a0002c0001t0004g0196 a0002c0001t0004g0318 a0002c0001t0012g0161 a0002c0001t0012g0211 a0002c0001t0012g0239 a0002c0001t0012g0311 a0002c0001t0012g0380 a0002c0001t0014g0130 a0002c0001t0014g0152 a0002c0001t0014g0206 a0002c0001t0056g0238 a0002c0003t0001g0042 a0002c0003t0001g0180 a0002c0003t0001g0204 a0002c0003t0001g0215 a0002c0003t0001g0219 a0002c0003t0001g0224 a0002c0003t0001g0261 a0002c0003t0001g0263 a0002c0003t0001g0275 a0002c0003t0001g0289 a0002c0003t0001g0290 a0002c0003t0004g0024 a0002c0003t0004g0056 a0002c0003t0007g0192 a0002c0003t0007g0208 a0002c0003t0007g0214 a0002c0003t0007g0349 a0002c0003t0012g0036 a0002c0003t0014g0222 a0002c0003t0026g0216 a0002c0003t0059g0276 a0002c0010t0001g0367 a0002c0010t0057g0341 a0002c0030t0064g0388 a0003c0005t0002g0004 a0003c0005t0002g0007 a0003c0005t0002g0069 a0003c0005t0002g0071 a0003c0005t0002g0099 a0003c0005t0002g0145 a0003c0005t0002g0285 a0003c0005t0002g0312 a0003c0005t0002g0324 a0003c0005t0005g0098 a0003c0005t0005g0100 a0003c0005t0005g0101 a0003c0005t0005g0392 a0003c0005t0015g0097 a0003c0005t0031g0288 a0003c0005t0097g0093 a0003c0006t0002g0044 a0003c0006t0002g0045 a0003c0006t0002g0172 a0003c0006t0002g0221 a0003c0006t0002g0357 a0003c0006t0002g0362 a0003c0006t0002g0363 a0003c0006t0002g0382 a0003c0006t0005g0023 a0003c0006t0005g0057 a0003c0006t0005g0173 a0003c0006t0005g0397 a0003c0006t0015g0223 a0003c0006t0026g0018 a0003c0006t0043g0220 a0003c0006t0095g0299 a0003c0014t0015g0355 a0003c0015t0063g0020 a0003c0019t0017g0066 a0003c0019t0041g0383 a0003c0019t0085g0016 a0003c0024t0041g0234 a0004c0007t0008g0049 a0004c0007t0008g0269 a0004c0007t0008g0291 a0004c0007t0008g0344 a0004c0007t0017g0240 a0004c0007t0020g0245 a0004c0007t0021g0154 a0004c0007t0022g0095 a0004c0007t0022g0134 a0004c0007t0022g0136 a0004c0007t0022g0237 a0004c0012t0008g0268 a0004c0012t0008g0356 a0004c0012t0029g0076 a0004c0012t0029g0077 a0005c0016t0019g0112 a0005c0016t0019g0114 a0005c0016t0019g0115 a0005c0020t0019g0082 a0005c0020t0019g0273 a0005c0020t0035g0081 a0008c0023t0051g0255 a0009c0039t0010g0373 a0011c0040t0002g0247	164	410	0.4000	16	c.39 others(27): Show c.3963_*3964insGGACACAGGAAGGACG	VSIG10	ENSG00000176834.14	transcript	ENST00000359236.10	protein_coding		917		chr12	TogoVar
VSIG2_chr11_124742474_124757255	124749870	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	302	0.0033	16	c.428 others(28): Show c.428-20_428-5dupTTTTTTTTTTTTTTTT	VSIG2	ENSG00000019102.12	transcript	ENST00000326621.10	protein_coding	3/6			chr11	TogoVar
VSIG4_chrX_66016738_66045080	66021192	G G	GCACACAC others(9): Show GCACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG03195.hp1 HG02647.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0149 a0001c0007t0001g0152 a0001c0001t0001g0149 a0001c0007t0001g0152	2	175	0.0114	16	c.10 others(27): Show c.1070_*1071insTGTGTGTGTGTGTGTG	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding		545		chrX	TogoVar
VSIR_chr10_71742556_71778520	71759818	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG06807.hp2 NA18949.hp1 others(2): Show HG02886.hp1 HG06807.hp2 NA18949.hp1 NA18954.hp1 NA18982.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0005	a0001c0001t0002 a0001c0003t0064 a0001c0004t0040 others(2): Show a0001c0001t0002 a0001c0003t0064 a0001c0004t0040 a0002c0002t0002 a0003c0005t0012	a0001c0001t0002g0156 a0001c0003t0064g0213 a0001c0004t0040g0233 others(2): Show a0001c0001t0002g0156 a0001c0003t0064g0213 a0001c0004t0040g0233 a0002c0002t0002g0106 a0003c0005t0012g0294	5	384	0.0130	16	c.568 others(33): Show c.568+1049_568+1050insGTGTGTGTGTGTGTGT	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6			chr10	TogoVar
VSIR_chr10_71742556_71778520	71759830	C C	CACACACA others(9): Show CACACACACACACATAT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0116 a0003c0005t0116	a0003c0005t0116g0290 a0003c0005t0116g0290	1	459	0.0022	16	c.568 others(33): Show c.568+1037_568+1038insATATGTGTGTGTGTGT	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6			chr10	TogoVar
VSIR_chr10_71742556_71778520	71759846	C C	CACACACA others(9): Show CACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp2 HG01123.hp2 others(13): Show HG00733.hp2 HG01074.hp2 HG01123.hp2 HG01175.hp1 HG01243.hp2 HG01433.hp1 HG02109.hp2 HG02135.hp1 HG02280.hp1 HG02738.hp2 HG03834.hp1 HG04184.hp1 NA18972.hp1 NA18998.hp2 NA19089.hp1 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0004c0010	a0001c0001t0091 a0001c0003t0002 a0001c0003t0005 others(11): Show a0001c0001t0091 a0001c0003t0002 a0001c0003t0005 a0001c0003t0008 a0001c0003t0010 a0001c0003t0011 a0001c0003t0012 a0001c0003t0014 a0001c0003t0015 a0001c0003t0016 a0001c0003t0038 a0001c0003t0060 a0001c0004t0096 a0004c0010t0030	a0001c0001t0091g0248 a0001c0003t0002g0013 a0001c0003t0005g0183 others(12): Show a0001c0001t0091g0248 a0001c0003t0002g0013 a0001c0003t0005g0183 a0001c0003t0008g0174 a0001c0003t0008g0197 a0001c0003t0010g0048 a0001c0003t0011g0176 a0001c0003t0012g0199 a0001c0003t0014g0190 a0001c0003t0015g0203 a0001c0003t0016g0184 a0001c0003t0038g0025 a0001c0003t0060g0067 a0001c0004t0096g0305 a0004c0010t0030g0053	16	264	0.0606	16	c.568 others(33): Show c.568+1021_568+1022insATGTGTGTGTGTGTGT	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6			chr10	TogoVar
VSNL1_chr2_17535696_17662018	17655455	T T	TCACACAC others(9): Show TCACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0210 a0001c0001t0042g0210	1	39	0.0256	16	c.92 others(24): Show c.92_*107dupCACACACACACACACA	VSNL1	ENSG00000163032.12	transcript	ENST00000295156.9	protein_coding	4/4	108	INFO_REALIGN_3_PRIME	chr2	TogoVar
VSTM4_chr10_49009236_49120522	49096622	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp1 HG02965.hp2 others(2): Show HG02451.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0010 a0001c0003t0004 a0001c0004t0006 a0001c0001t0010 a0001c0003t0004 a0001c0004t0006	a0001c0001t0010g0201 a0001c0003t0004g0202 a0001c0003t0004g0209 others(2): Show a0001c0001t0010g0201 a0001c0003t0004g0202 a0001c0003t0004g0209 a0001c0003t0004g0241 a0001c0004t0006g0020	5	80	0.0625	16	c.458 others(35): Show c.458-10615_458-10600dupACACACACACACACAC	VSTM4	ENSG00000165633.13	transcript	ENST00000332853.9	protein_coding	2/7			chr10	TogoVar
VSTM5_chr11_93813232_93855618	93837011	G G	GCACACAC others(9): Show GCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19079.hp1 HG02165.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0216 a0001c0001t0006g0246 a0001c0001t0006g0216 a0001c0001t0006g0246	2	23	0.0870	16	c.91+ others(33): Show c.91+13385_91+13400dupTGTGTGTGTGTGTGTG	VSTM5	ENSG00000214376.6	transcript	ENST00000409977.2	protein_coding	1/3			chr11	TogoVar
VSTM5_chr11_93813232_93855618	93849967	T T	TGACCAGG others(9): Show TGACCAGGAAGGCCATG	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	358	0.0028	16	c.91+ others(29): Show c.91+429_91+444dupCATGGCCTTCCTGGTC	VSTM5	ENSG00000214376.6	transcript	ENST00000409977.2	protein_coding	1/3			chr11	TogoVar

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