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
VEPH1_chr3_157254742_157508416	157304019	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03942.hp2 HG04199.hp1 HG03831.hp1 HG03942.hp2 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0247 a0001c0001t0001g0248 a0002c0005t0001g0119 a0001c0001t0001g0247 a0001c0001t0001g0248 a0002c0005t0001g0119	3	258	0.0116	17	c.201 others(36): Show c.2010+9601_2010+9602insTATATATATATATATAT	VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	11/13			chr3	TogoVar
VEPH1_chr3_157254742_157508416	157369180	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp2 HG03688.hp1 others(4): Show HG00323.hp2 HG00609.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp2 NA18959.hp2 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0003 a0001c0001 a0001c0010 a0002c0003	a0001c0001t0001 a0001c0001t0007 a0001c0010t0002 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0010t0002 a0002c0003t0002	a0001c0001t0001g0070 a0001c0001t0001g0259 a0001c0001t0007g0141 others(4): Show a0001c0001t0001g0070 a0001c0001t0001g0259 a0001c0001t0007g0141 a0001c0001t0007g0231 a0001c0010t0002g0153 a0002c0003t0002g0006 a0002c0003t0002g0151	7	68	0.1029	17	c.112 others(36): Show c.1128-4685_1128-4669dupTTTTTTTTTTTTTTTTT	VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	7/13			chr3	TogoVar
VEPH1_chr3_157254742_157508416	157481465	C C	CACACACA others(10): Show CACACACACAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0004 a0006c0008t0004	a0006c0008t0004g0166 a0006c0008t0004g0166	1	177	0.0056	17	c.139 others(36): Show c.139-10937_139-10936insTTTTTTTTTGTGTGTGT	VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	2/13			chr3	TogoVar
VEPH1_chr3_157254742_157508416	157481465	C C	CACACACA others(10): Show CACACACACACAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0096 a0003c0002t0004g0096	1	177	0.0056	17	c.139 others(36): Show c.139-10937_139-10936insTTTTTTTGTGTGTGTGT	VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	2/13			chr3	TogoVar
VEPH1_chr3_157254742_157508416	157481465	C C	CACACACA others(10): Show CACACACACACACACAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0060 a0003c0002t0002g0060	1	177	0.0056	17	c.139 others(36): Show c.139-10937_139-10936insTTTGTGTGTGTGTGTGT	VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	2/13			chr3	TogoVar
VEPH1_chr3_157254742_157508416	157481486	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18990.hp2 NA18954.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0290 a0001c0004t0001g0293 a0001c0001t0001g0290 a0001c0004t0001g0293	2	105	0.0190	17	c.139 others(36): Show c.139-10958_139-10957insGTTTTTTTTTTTTTTTT	VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	2/13			chr3	TogoVar
VEZT_chr12_95212807_95307799	95240073	G G	GAAGGAAG others(10): Show GAAGGAAGGAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19005.hp2 NA19010.hp2 others(1): Show HG02027.hp2 NA19005.hp2 NA19010.hp2 NA19086.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0379 a0001c0003t0004g0396 a0001c0003t0004g0397 others(1): Show a0001c0003t0004g0379 a0001c0003t0004g0396 a0001c0003t0004g0397 a0001c0003t0004g0398	4	125	0.0320	17	c.37- others(34): Show c.37-11864_37-11863insGAAGGAAGGAAAGAAAG	VEZT	ENSG00000028203.19	transcript	ENST00000436874.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
VGLL3_chr3_86932973_86996149	86954902	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp1 HG02109.hp2 others(1): Show HG00735.hp1 HG01175.hp1 HG02109.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0308 a0001c0001t0003g0312 a0001c0001t0003g0017 a0001c0001t0003g0308 a0001c0001t0003g0312	4	308	0.0130	17	c.938 others(34): Show c.938-7836_938-7835insTTTTTTTTTTTTTTTTT	VGLL3	ENSG00000206538.9	transcript	ENST00000398399.7	protein_coding	3/3			chr3	TogoVar
VGLL3_chr3_86932973_86996149	86992740	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG00673.hp2 others(27): Show HG00408.hp1 HG00639.hp1 HG00673.hp2 HG01070.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01884.hp1 HG02056.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02630.hp1 HG03130.hp1 HG03195.hp2 HG03486.hp2 HG04199.hp2 NA18747.hp2 NA18940.hp1 NA18951.hp2 NA18952.hp2 NA18972.hp1 NA18978.hp1 NA19060.hp1 NA19088.hp1 NA19089.hp2 NA19240.hp2 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018	a0001c0001t0001g0008 a0001c0001t0001g0072 a0001c0001t0001g0099 others(26): Show a0001c0001t0001g0008 a0001c0001t0001g0072 a0001c0001t0001g0099 a0001c0001t0001g0112 a0001c0001t0001g0146 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0116 a0001c0001t0002g0139 a0001c0001t0002g0154 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0007g0061 a0001c0001t0013g0031 a0001c0001t0016g0157 a0001c0001t0016g0163 a0001c0001t0018g0130	30	154	0.1948	17	c.-19 others(28): Show c.-1998_-1997insAAAAAAAAAAAAAAAAA	VGLL3	ENSG00000206538.9	transcript	ENST00000398399.7	protein_coding		1592		chr3	TogoVar
VHLL_chr1_156293624_156304307	156296579	A A	AAATATAT others(10): Show AAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	194	0.0052	17	c.21 others(28): Show c.2190_*2191insATATATATATATATATT	VHLL	ENSG00000189030.10	transcript	ENST00000339922.5	protein_coding		2044		chr1	TogoVar
VIL1_chr2_218414123_218458295	218416191	C C	CTCTCTCT others(10): Show CTCTCTCTCTATATATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	83	0.0120	17	c.-29 others(28): Show c.-2989_-2988insTCTCTCTCTATATATAG	VIL1	ENSG00000127831.11	transcript	ENST00000248444.10	protein_coding		2931		chr2	TogoVar
VILL_chr3_37985786_38012185	38007401	A A	ACACACAC others(10): Show ACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	322	0.0031	17	c.34 others(26): Show c.346_*347insCACACACACACACACAC	VILL	ENSG00000136059.16	transcript	ENST00000383759.7	protein_coding		217		chr3	TogoVar
VIM_chr10_17223241_17242593	17224476	T T	TATATATA others(10): Show TATATATATAGATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	406	0.0025	17	c.-41 others(28): Show c.-4196_-4195insATATATATAGATATATA	VIM	ENSG00000026025.16	transcript	ENST00000544301.7	protein_coding		3764		chr10	TogoVar
VIPR1_chr3_42497643_42542568	42522102	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	338	0.0030	17	c.292 others(34): Show c.292+2772_292+2773insATATATATATATATATA	VIPR1	ENSG00000114812.13	transcript	ENST00000325123.5	protein_coding	3/12			chr3	TogoVar
VIPR2_chr7_159023175_159149867	159135004	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18969.hp1 NA19084.hp1 others(1): Show HG02027.hp2 NA18969.hp1 NA19084.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0055 a0001c0003t0003 a0001c0001t0001 a0001c0001t0055 a0001c0003t0003	a0001c0001t0001g0107 a0001c0001t0055g0299 a0001c0003t0003g0105 others(1): Show a0001c0001t0001g0107 a0001c0001t0055g0299 a0001c0003t0003g0105 a0001c0003t0003g0106	4	231	0.0173	17	c.151 others(34): Show c.151+7425_151+7441dupAAAAAAAAAAAAAAAAA	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIRMA_chr8_94482689_94558469	94483332	C C	CCATATGT others(10): Show CCATATGTCCATCAACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0117	1	344	0.0029	17	c.53 others(28): Show c.5373_*5374insCGGTTGATGGACATATG	VIRMA	ENSG00000164944.12	transcript	ENST00000297591.10	protein_coding		4356		chr8	TogoVar
VMAC_chr19_5899872_5915853	5907610	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02280.hp1 others(6): Show HG01891.hp2 HG02258.hp1 HG02280.hp1 HG02896.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03579.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0022	a0001c0001t0003g0013 a0001c0001t0006g0013 a0001c0001t0006g0091 others(2): Show a0001c0001t0003g0013 a0001c0001t0006g0013 a0001c0001t0006g0091 a0001c0001t0013g0070 a0001c0001t0022g0084	9	63	0.1429	17	c.192 others(34): Show c.192-1204_192-1188dupAAAAAAAAAAAAAAAAA	VMAC	ENSG00000187650.4	transcript	ENST00000339485.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
VMP1_chr17_59702654_59847255	59772950	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp1 NA18966.hp1 others(1): Show HG02647.hp1 HG02717.hp1 NA18966.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0117 a0001c0001t0003g0128 others(1): Show a0001c0001t0003g0105 a0001c0001t0003g0117 a0001c0001t0003g0128 a0001c0001t0003g0140	4	20	0.2000	17	c.583 others(32): Show c.583-790_583-774dupTTTTTTTTTTTTTTTTT	VMP1	ENSG00000062716.13	transcript	ENST00000262291.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
VN1R1_chr19_57449790_57462140	57457969	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 NA18994.hp2 NA19082.hp2 HG00438.hp1 NA18994.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	3	414	0.0072	17	c.-14 others(28): Show c.-1484_-1483insCACACACACACACACAC	VN1R1	ENSG00000178201.5	transcript	ENST00000321039.5	protein_coding		830		chr19	TogoVar
VNN2_chr6_132738870_132762904	132758040	T T	TTCTTCTT others(10): Show TTCTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0017 a0001c0003t0001g0017	1	418	0.0024	17	c.-15 others(26): Show c.-158_-157insGAAGAAGAAGAAGAAGA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding		137		chr6	TogoVar
VOPP1_chr7_55465613_55577502	55516932	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	183	0.0055	17	c.113 others(34): Show c.113+4139_113+4140insAAATATATATATATATA	VOPP1	ENSG00000154978.13	transcript	ENST00000285279.10	protein_coding	2/4			chr7	TogoVar
VPS13A_chr9_77172534_77426537	77207253	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0054 a0001c0001t0006g0054	1	346	0.0029	17	c.385 others(34): Show c.385+1174_385+1175insTATATATATATATATAT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	5/71			chr9	TogoVar
VPS13A_chr9_77172534_77426537	77306402	G G	GAGAGAGT others(10): Show GAGAGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0023 a0001c0006t0005g0023	1	345	0.0029	17	c.396 others(36): Show c.3961-1543_3961-1542insAGAGAGTGTGTGTGTGT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	34/71			chr9	TogoVar
VPS13A_chr9_77172534_77426537	77411660	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03098.hp1 HG03710.hp1 others(5): Show HG02630.hp2 HG03098.hp1 HG03710.hp1 HG03942.hp2 HG06807.hp1 NA18977.hp1 NA18989.hp1 NA19088.hp1	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0003 a0004c0009 a0009c0021 a0001c0003 a0004c0009 a0009c0021	a0001c0003t0003 a0001c0003t0004 a0001c0003t0033 others(2): Show a0001c0003t0003 a0001c0003t0004 a0001c0003t0033 a0004c0009t0011 a0009c0021t0002	a0001c0003t0003g0239 a0001c0003t0004g0228 a0001c0003t0004g0346 others(5): Show a0001c0003t0003g0239 a0001c0003t0004g0228 a0001c0003t0004g0346 a0001c0003t0004g0347 a0001c0003t0033g0231 a0004c0009t0011g0174 a0004c0009t0011g0180 a0009c0021t0002g0237	8	94	0.0851	17	c.947 others(36): Show c.9474+4062_9474+4078dupAAAAAAAAAAAAAAAAA	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	71/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13B_chr8_99008274_99882580	99270131	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18950.hp2 NA18906.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0113 a0001c0001t0002g0062 a0001c0001t0001g0113 a0001c0001t0002g0062	2	17	0.1176	17	c.251 others(36): Show c.2516-4057_2516-4041dupTTTTTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	17/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99326452	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0128 a0003c0006t0004g0128	1	34	0.0294	17	c.282 others(38): Show c.2824+51212_2824+51228dupTTTTTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99474183	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp1 HG01981.hp2 others(3): Show HG01106.hp1 HG01884.hp1 HG01981.hp2 HG02922.hp1 HG03834.hp2 NA18906.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0005 a0003c0006 others(1): Show a0001c0001 a0003c0005 a0003c0006 a0004c0023	a0001c0001t0001 a0003c0005t0006 a0003c0006t0004 others(1): Show a0001c0001t0001 a0003c0005t0006 a0003c0006t0004 a0004c0023t0005	a0001c0001t0001g0107 a0003c0005t0006g0129 a0003c0006t0004g0109 others(3): Show a0001c0001t0001g0107 a0003c0005t0006g0129 a0003c0006t0004g0109 a0003c0006t0004g0127 a0003c0006t0004g0128 a0004c0023t0005g0106	6	64	0.0938	17	c.366 others(36): Show c.3666+6553_3666+6569dupTTTTTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	24/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99624008	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0005 a0004c0023t0005	a0004c0023t0005g0106 a0004c0023t0005g0106	1	105	0.0095	17	c.522 others(38): Show c.5221-17803_5221-17802insATATATATATATATATA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61			chr8	TogoVar
VPS13B_chr8_99008274_99882580	99657470	T T	TGTGTCTG others(10): Show TGTGTCTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02965.hp2 others(4): Show HG01884.hp2 HG02145.hp2 HG02965.hp2 HG03041.hp2 HG03453.hp2 NA18522.hp2 NA20129.hp1	a0003 a0011 a0003 a0011	a0003c0004 a0003c0007 a0011c0034 a0003c0004 a0003c0007 a0011c0034	a0003c0004t0001 a0003c0007t0005 a0011c0034t0001 a0003c0004t0001 a0003c0007t0005 a0011c0034t0001	a0003c0004t0001g0065 a0003c0004t0001g0066 a0003c0004t0001g0090 others(4): Show a0003c0004t0001g0065 a0003c0004t0001g0066 a0003c0004t0001g0090 a0003c0004t0001g0112 a0003c0007t0005g0049 a0003c0007t0005g0060 a0011c0034t0001g0063	7	49	0.1429	17	c.590 others(36): Show c.5909-3884_5909-3883insGTGTCTGTGTGTGTGTG	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	34/61			chr8	TogoVar
VPS13B_chr8_99008274_99882580	99657470	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02451.hp1 others(4): Show HG01109.hp1 HG01891.hp2 HG02451.hp1 HG02965.hp1 HG03139.hp2 HG03453.hp1 NA19064.hp2	a0001 a0002 a0009 others(2): Show a0001 a0002 a0009 a0012 a0017	a0001c0001 a0001c0002 a0001c0008 others(4): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0009c0015 a0012c0028 a0017c0031	a0001c0001t0001 a0001c0002t0001 a0001c0008t0005 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0008t0005 a0002c0003t0008 a0009c0015t0004 a0012c0028t0002 a0017c0031t0006	a0001c0001t0001g0064 a0001c0002t0001g0068 a0001c0008t0005g0125 others(4): Show a0001c0001t0001g0064 a0001c0002t0001g0068 a0001c0008t0005g0125 a0002c0003t0008g0071 a0009c0015t0004g0083 a0012c0028t0002g0078 a0017c0031t0006g0054	7	49	0.1429	17	c.590 others(36): Show c.5909-3884_5909-3883insGTGTGTGTGTGTGTGTG	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	34/61			chr8	TogoVar
VPS13B_chr8_99008274_99882580	99832341	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0022 a0004c0022	a0004c0022t0004 a0004c0022t0004	a0004c0022t0004g0122 a0004c0022t0004g0122	1	51	0.0196	17	c.933 others(31): Show c.9331-19_9331-3dupTTTTTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	51/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13C_chr15_61847389_62065447	61914878	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02647.hp2 HG03540.hp2 others(1): Show HG00558.hp2 HG02647.hp2 HG03540.hp2 HG03927.hp2	a0004 a0006 a0029 a0004 a0006 a0029	a0004c0004 a0006c0006 a0006c0037 others(1): Show a0004c0004 a0006c0006 a0006c0037 a0029c0041	a0004c0004t0001 a0006c0006t0017 a0006c0037t0017 others(1): Show a0004c0004t0001 a0006c0006t0017 a0006c0037t0017 a0029c0041t0015	a0004c0004t0001g0042 a0006c0006t0017g0208 a0006c0037t0017g0216 others(1): Show a0004c0004t0001g0042 a0006c0006t0017g0208 a0006c0037t0017g0216 a0029c0041t0015g0223	4	120	0.0333	17	c.844 others(34): Show c.8445+738_8445+754dupTTTTTTTTTTTTTTTTT	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	61/84			chr15	TogoVar
VPS13C_chr15_61847389_62065447	62017064	T T	TGTCTTCT others(10): Show TGTCTTCTTTTGAGAAGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp2 HG02615.hp1 others(3): Show HG02145.hp2 HG02451.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02970.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0194 a0004c0009t0001g0195 a0004c0009t0001g0196 others(3): Show a0004c0009t0001g0194 a0004c0009t0001g0195 a0004c0009t0001g0196 a0004c0009t0001g0197 a0004c0009t0001g0198 a0004c0009t0001g0199	6	350	0.0171	17	c.685 others(34): Show c.685-3089_685-3073dupGCTTCTCAAAAGAAGAC	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	9/84			chr15	TogoVar
VPS13D_chr1_12225030_12517047	12381922	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	79	0.0127	17	c.111 others(38): Show c.11191-1054_11191-1053insCTTTCTTTCTTTCTTTC	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	57/69			chr1	TogoVar
VPS13D_chr1_12225030_12517047	12381922	T T	TTTTCTTT others(10): Show TTTTCTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp2 NA19066.hp1 NA19066.hp2	a0001 a0017 a0001 a0017	a0001c0003 a0017c0019 a0001c0003 a0017c0019	a0001c0003t0005 a0017c0019t0001 a0001c0003t0005 a0017c0019t0001	a0001c0003t0005g0052 a0017c0019t0001g0093 a0001c0003t0005g0052 a0017c0019t0001g0093	2	80	0.0250	17	c.111 others(38): Show c.11191-1047_11191-1046insTCTTTCTTTCTTTCTTT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	57/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS16_chr20_2835745_2871732	2854265	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0045 a0002c0005t0004g0045	1	401	0.0025	17	c.54- others(32): Show c.54-5454_54-5453insCACACACACACACACAC	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS26A_chr10_69119178_69179412	69151264	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03834.hp2 NA18969.hp2 HG03453.hp1 HG03834.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0155 a0001c0001t0002g0162 a0001c0001t0009g0065 a0001c0001t0002g0155 a0001c0001t0002g0162 a0001c0001t0009g0065	3	260	0.0115	17	c.154 others(34): Show c.154-4545_154-4529dupAAAAAAAAAAAAAAAAA	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS26A_chr10_69119178_69179412	69151272	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	331	0.0030	17	c.154 others(34): Show c.154-4529_154-4528insAAAAACAAAAAAAAAAA	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS26C_chr21_37218422_37272334	37257945	G G	GGCAGCGC others(10): Show GGCAGCGCCCACCAGCCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp1 HG02109.hp2 others(11): Show HG01106.hp2 HG01109.hp1 HG02109.hp2 HG02145.hp2 HG02559.hp2 HG02630.hp1 HG02717.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0281 others(11): Show a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0281 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0004g0298 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0312 a0001c0001t0006g0300	14	394	0.0355	17	c.57+ others(32): Show c.57+9276_57+9292dupAGGCTGGTGGGCGCTGC	VPS26C	ENSG00000157538.14	transcript	ENST00000309117.11	protein_coding	1/7			chr21	TogoVar
VPS33A_chr12_122224564_122271494	122226363	A A	AGGGAGGC others(10): Show AGGGAGGCGGGGCCGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02559.hp2 others(8): Show HG01884.hp1 HG02055.hp2 HG02559.hp2 HG02622.hp2 HG02717.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 NA19012.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0016	a0001c0001t0001g0025 a0001c0001t0001g0227 a0001c0001t0001g0228 others(8): Show a0001c0001t0001g0025 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0013g0156 a0001c0001t0013g0157 a0001c0001t0016g0230	11	296	0.0372	17	c.58 others(28): Show c.5866_*5882dupGCCCGGCCCCGCCTCCC	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding		3200		chr12	TogoVar
VPS33A_chr12_122224564_122271494	122239749	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18971.hp1 NA18994.hp1 others(1): Show HG01346.hp2 NA18971.hp1 NA18994.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0176 others(1): Show a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0176 a0001c0001t0002g0219	4	50	0.0800	17	c.116 others(34): Show c.1164+112_1164+128dupTTTTTTTTTTTTTTTTT	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding	9/12			chr12	TogoVar
VPS33B_chr15_90993673_91027594	91017365	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	317	0.0032	17	c.178 others(32): Show c.178-342_178-341insTTTTTTTTTTTTTTTTT	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding	2/22			chr15	TogoVar
VPS33B_chr15_90993673_91027594	91026979	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01123.hp1 HG01167.hp2 others(19): Show HG00423.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01258.hp1 HG01884.hp2 HG01928.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp2 HG03130.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG06807.hp2 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18967.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0001c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0008t0001 a0001c0017t0001	a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0025 others(19): Show a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0052 a0001c0001t0001g0168 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0193 a0001c0001t0001g0213 a0001c0001t0003g0011 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0005g0244 a0001c0003t0001g0071 a0001c0003t0001g0074 a0001c0008t0001g0223 a0001c0008t0001g0227 a0001c0017t0001g0186	22	169	0.1302	17	c.-47 others(28): Show c.-4731_-4730insAAAAAAAAAAAAAAAAA	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding		4386		chr15	TogoVar
VPS33B_chr15_90993673_91027594	91027000	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0136 a0001c0012t0001g0136	1	368	0.0027	17	c.-47 others(28): Show c.-4752_-4751insTAAAAAAAAAAAAAAAA	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding		4407		chr15	TogoVar
VPS35L_chr16_19550703_19706163	19666996	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01099.hp2 HG02258.hp1 others(4): Show HG00741.hp2 HG01099.hp2 HG02258.hp1 HG02615.hp1 NA18982.hp1 NA18989.hp1 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0001 a0001c0002t0006 a0001c0013t0003 a0001c0002t0001 a0001c0002t0006 a0001c0013t0003	a0001c0002t0001g0176 a0001c0002t0001g0215 a0001c0002t0001g0227 others(4): Show a0001c0002t0001g0176 a0001c0002t0001g0215 a0001c0002t0001g0227 a0001c0002t0001g0234 a0001c0002t0001g0236 a0001c0002t0006g0210 a0001c0013t0003g0058	7	171	0.0409	17	c.222 others(36): Show c.2222-2164_2222-2163insCTTTCTTTCTTTCTTTC	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30			chr16	TogoVar
VPS35_chr16_46651132_46694178	46663862	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	5	0.2000	17	c.164 others(34): Show c.1648-717_1648-701dupAAAAAAAAAAAAAAAAA	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding	13/16			chr16	TogoVar
VPS36_chr13_52407606_52455634	52445638	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18906.hp1 HG01243.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0199 a0001c0001t0007g0201 a0001c0001t0007g0199 a0001c0001t0007g0201	2	286	0.0070	17	c.97- others(32): Show c.97-3210_97-3194dupTTTTTTTTTTTTTTTTT	VPS36	ENSG00000136100.14	transcript	ENST00000378060.9	protein_coding	1/13			chr13	TogoVar
VPS37A_chr8_17241958_17303024	17295257	G G	GTAAGAGG others(10): Show GTAAGAGGCATTTACAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp2 HG02897.hp2 HG02886.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0133 a0001c0001t0020g0313 a0001c0001t0020g0133 a0001c0001t0020g0313	2	382	0.0052	17	c.27 others(26): Show c.271_*272insTAAGAGGCATTTACAAA	VPS37A	ENSG00000155975.10	transcript	ENST00000324849.9	protein_coding	12/12	8831		chr8	TogoVar
VPS41_chr7_38717974_38914191	38911721	C C	CTTTTTTC others(10): Show CTTTTTTCTTGCACATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0254 a0001c0001t0006g0254	1	9	0.1111	17	c.-25 others(28): Show c.-2548_-2547insTCATGTGCAAGAAAAAA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2531		chr7	TogoVar
VPS52_chr6_33245278_33276876	33256463	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	43	0.0233	17	c.179 others(36): Show c.1795-4509_1795-4493dupTTTTTTTTTTTTTTTTT	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar

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