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
VPS13B_chr8_99008274_99882580	99623994	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0128 a0003c0006t0004g0128	1	48	0.0208	16	c.522 others(37): Show c.5221-17803_5221-17802insATATATATATATATAT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99633806	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp2 HG01109.hp2 others(6): Show HG00423.hp1 HG00642.hp2 HG01109.hp2 HG01256.hp2 HG02080.hp1 HG02895.hp1 HG02970.hp2 HG03579.hp1 NA18522.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0001c0021 a0003c0005 others(1): Show a0001c0002 a0001c0021 a0003c0005 a0005c0009	a0001c0002t0001 a0001c0002t0002 a0001c0021t0001 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0021t0001 a0003c0005t0004 a0005c0009t0004 a0005c0009t0006	a0001c0002t0001g0016 a0001c0002t0001g0031 a0001c0002t0001g0039 others(6): Show a0001c0002t0001g0016 a0001c0002t0001g0031 a0001c0002t0001g0039 a0001c0002t0001g0042 a0001c0002t0002g0011 a0001c0021t0001g0121 a0003c0005t0004g0130 a0005c0009t0004g0120 a0005c0009t0006g0119	9	10	0.9000	16	c.522 others(35): Show c.5221-7987_5221-7972dupTGTGTGTGTGTGTGTG	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99657470	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01099.hp2 HG01261.hp1 others(5): Show HG00597.hp2 HG01099.hp2 HG01261.hp1 HG02074.hp1 HG03139.hp1 HG03195.hp1 NA18906.hp2 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0035 others(1): Show a0001c0001 a0001c0002 a0001c0035 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0035t0002 a0002c0003t0003	a0001c0001t0001g0107 a0001c0001t0002g0050 a0001c0001t0002g0110 others(5): Show a0001c0001t0001g0107 a0001c0001t0002g0050 a0001c0001t0002g0110 a0001c0002t0001g0079 a0001c0002t0001g0087 a0001c0035t0002g0104 a0002c0003t0003g0058 a0002c0003t0003g0059	8	50	0.1600	16	c.590 others(35): Show c.5909-3874_5909-3859dupGTGTGTGTGTGTGTGT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	34/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99793254	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01884.hp1 HG01891.hp1 others(2): Show HG00609.hp1 HG01884.hp1 HG01891.hp1 HG01981.hp2 HG02922.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0005 a0003c0006 others(2): Show a0001c0002 a0003c0005 a0003c0006 a0004c0022 a0004c0023	a0001c0002t0001 a0003c0005t0006 a0003c0006t0004 others(2): Show a0001c0002t0001 a0003c0005t0006 a0003c0006t0004 a0004c0022t0004 a0004c0023t0005	a0001c0002t0001g0096 a0003c0005t0006g0129 a0003c0006t0004g0127 others(2): Show a0001c0002t0001g0096 a0003c0005t0006g0129 a0003c0006t0004g0127 a0004c0022t0004g0122 a0004c0023t0005g0106	5	56	0.0893	16	c.794 others(35): Show c.7941+8794_7941+8809dupTATATATATATATATA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	43/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99831076	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG01891.hp1 HG02145.hp1	a0003 a0004 a0003 a0004	a0003c0005 a0004c0022 a0003c0005 a0004c0022	a0003c0005t0006 a0004c0022t0004 a0003c0005t0006 a0004c0022t0004	a0003c0005t0006g0131 a0004c0022t0004g0122 a0003c0005t0006g0131 a0004c0022t0004g0122	2	62	0.0323	16	c.933 others(35): Show c.9331-1279_9331-1278insTTTTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	51/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13C_chr15_61847389_62065447	61873959	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0039 a0039	a0039c0053 a0039c0053	a0039c0053t0004 a0039c0053t0004	a0039c0053t0004g0204 a0039c0053t0004g0204	1	224	0.0045	16	c.104 others(35): Show c.10415-566_10415-551dupGTGTGTGTGTGTGTGT	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	77/84			chr15	TogoVar
VPS13C_chr15_61847389_62065447	61923861	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0018 a0005c0005t0004g0018	1	100	0.0100	16	c.661 others(35): Show c.6610-1115_6610-1100dupAAAAAAAAAAAAAAAA	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	53/84			chr15	TogoVar
VPS13C_chr15_61847389_62065447	61996990	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02109.hp1 HG03834.hp1 others(1): Show HG00558.hp2 HG02109.hp1 HG03834.hp1 HG06807.hp1	a0001 a0004 a0022 others(1): Show a0001 a0004 a0022 a0031	a0001c0001 a0004c0004 a0022c0043 others(1): Show a0001c0001 a0004c0004 a0022c0043 a0031c0031	a0001c0001t0002 a0004c0004t0001 a0022c0043t0005 others(1): Show a0001c0001t0002 a0004c0004t0001 a0022c0043t0005 a0031c0031t0001	a0001c0001t0002g0267 a0004c0004t0001g0042 a0022c0043t0005g0170 others(1): Show a0001c0001t0002g0267 a0004c0004t0001g0042 a0022c0043t0005g0170 a0031c0031t0001g0013	4	321	0.0125	16	c.135 others(35): Show c.1353+3573_1353+3574insATATATATATATATAT	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	16/84			chr15	TogoVar
VPS13D_chr1_12225030_12517047	12272392	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0047 a0001c0002t0004g0047	1	48	0.0208	16	c.210 others(33): Show c.2104-588_2104-573dupGTGTGTGTGTGTGTGT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	17/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12310857	T T	TTCCTTCC others(9): Show TTCCTTCCCTCCTTCCC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	110	0.0091	16	c.665 others(33): Show c.6651-553_6651-538dupTTCCCTCCTTCCCTCC	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	27/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12367553	A A	AATTTATT others(9): Show AATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG01891.hp2 others(10): Show HG01243.hp2 HG01884.hp1 HG01891.hp2 HG02132.hp2 HG02895.hp1 HG02976.hp1 HG03225.hp1 HG03540.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18947.hp1 NA19240.hp2	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0014 a0018	a0001c0006 a0001c0008 a0001c0011 others(6): Show a0001c0006 a0001c0008 a0001c0011 a0001c0012 a0001c0021 a0003c0007 a0007c0029 a0014c0020 a0018c0015	a0001c0006t0003 a0001c0006t0010 a0001c0008t0003 others(9): Show a0001c0006t0003 a0001c0006t0010 a0001c0008t0003 a0001c0011t0011 a0001c0011t0018 a0001c0012t0002 a0001c0012t0008 a0001c0021t0013 a0003c0007t0007 a0007c0029t0011 a0014c0020t0023 a0018c0015t0024	a0001c0006t0003g0009 a0001c0006t0010g0010 a0001c0008t0003g0002 others(10): Show a0001c0006t0003g0009 a0001c0006t0010g0010 a0001c0008t0003g0002 a0001c0011t0011g0016 a0001c0011t0018g0015 a0001c0012t0002g0074 a0001c0012t0008g0067 a0001c0021t0013g0046 a0003c0007t0007g0152 a0003c0007t0007g0153 a0007c0029t0011g0144 a0014c0020t0023g0077 a0018c0015t0024g0001	13	90	0.1444	16	c.104 others(35): Show c.10449-894_10449-879dupATTTATTTATTTATTT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	52/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12381922	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp2 HG01256.hp1 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0012 a0001c0003t0005 a0001c0001t0012 a0001c0003t0005	a0001c0001t0012g0119 a0001c0003t0005g0053 a0001c0001t0012g0119 a0001c0003t0005g0053	2	80	0.0250	16	c.111 others(36): Show c.11191-1008_11191-993dupTTCTTTCTTTCTTTCT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	57/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12395996	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0090 a0002c0004t0001g0090	1	106	0.0094	16	c.116 others(37): Show c.11635-4167_11635-4152dupTATATATATATATATA	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12396029	A A	ATATATAT others(9): Show ATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03486.hp1 HG03491.hp2 others(2): Show HG03017.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0012c0028	a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 others(1): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 a0012c0028t0013	a0001c0001t0002g0042 a0001c0002t0002g0040 a0001c0002t0002g0041 others(2): Show a0001c0001t0002g0042 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0003t0002g0061 a0012c0028t0013g0141	5	78	0.0641	16	c.116 others(37): Show c.11635-4152_11635-4151insTATATATATATATATT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69			chr1	TogoVar
VPS13D_chr1_12225030_12517047	12396029	A A	ATATATAT others(9): Show ATATATATATATGTATT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0010 a0001c0006t0010g0010	1	74	0.0135	16	c.116 others(37): Show c.11635-4152_11635-4151insTATATATATATGTATT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69			chr1	TogoVar
VPS13D_chr1_12225030_12517047	12433931	T T	TGAGAGAG others(9): Show TGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0004 a0004	a0004c0031 a0004c0031	a0004c0031t0014 a0004c0031t0014	a0004c0031t0014g0142 a0004c0031t0014g0142	1	113	0.0088	16	c.123 others(39): Show c.12333+17108_12333+17123dupAGAGAGAGAGAGAGAG	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	65/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS16_chr20_2835745_2871732	2842812	C C	CTATCGAT others(9): Show CTATCGATAGATAGATG	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18945.hp2 HG01884.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0286 a0001c0011t0001g0276 a0001c0001t0001g0286 a0001c0011t0001g0276	2	405	0.0049	16	c.53+ others(31): Show c.53+1989_53+1990insGATAGATAGATGTATC	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2854238	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01168.hp1 HG02818.hp2 others(11): Show HG00609.hp1 HG01168.hp1 HG02818.hp2 HG03041.hp1 HG03139.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18985.hp1 NA18995.hp2 NA19060.hp1 NA19063.hp2 NA19089.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0002c0005t0004 a0001c0001t0001 a0001c0001t0003 a0002c0005t0004	a0001c0001t0001g0050 a0001c0001t0001g0196 a0001c0001t0001g0206 others(9): Show a0001c0001t0001g0050 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0003g0028 a0001c0001t0003g0156 a0001c0001t0003g0157 a0002c0005t0004g0015 a0002c0005t0004g0040 a0002c0005t0004g0042 a0002c0005t0004g0043 a0002c0005t0004g0044 a0002c0005t0004g0046	14	143	0.0979	16	c.54- others(31): Show c.54-5469_54-5454dupCACACACACACACACA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS18_chr15_40889450_40908975	40905237	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0058 a0001c0001t0008g0058	1	254	0.0039	16	c.18 others(27): Show c.1896_*1897insTTTTTTTTTTTTTTTT	VPS18	ENSG00000104142.11	transcript	ENST00000220509.10	protein_coding		1263		chr15	TogoVar
VPS26A_chr10_69119178_69179412	69119351	C C	CATATATA others(9): Show CATATATATATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0033 a0001c0002t0008g0033	1	328	0.0030	16	c.-49 others(27): Show c.-4927_-4926insATATATATATATATGT	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding		4826		chr10	TogoVar
VPS26A_chr10_69119178_69179412	69136782	G G	GTTATTTA others(9): Show GTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03540.hp1 HG02257.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0296 a0001c0002t0018g0297 a0001c0002t0018g0296 a0001c0002t0018g0297	2	323	0.0062	16	c.153 others(33): Show c.153+3746_153+3761dupATTTATTTATTTATTT	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS26A_chr10_69119178_69179412	69151264	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG02027.hp2 others(5): Show HG00423.hp1 HG00544.hp2 HG02027.hp2 HG02135.hp1 HG02698.hp1 HG04199.hp1 NA18963.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 others(5): Show a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0016g0298 a0001c0001t0016g0299	8	265	0.0302	16	c.154 others(33): Show c.154-4544_154-4529dupAAAAAAAAAAAAAAAA	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS26A_chr10_69119178_69179412	69151270	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0043 a0001c0001t0005g0043	1	320	0.0031	16	c.154 others(33): Show c.154-4529_154-4528insAACAAAAAAAAAAAAA	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(9): Show AAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	331	0.0030	16	c.154 others(33): Show c.154-4529_154-4528insAAAACAAAAAAAAAAA	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS26A_chr10_69119178_69179412	69151276	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	329	0.0030	16	c.154 others(33): Show c.154-4529_154-4528insAAAAAAAACAAAAAAA	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS26B_chr11_134219671_134252788	134240794	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02647.hp1 HG04184.hp2 HG02071.hp2 HG02647.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0025 a0001c0001t0003 a0001c0001t0005 a0001c0001t0025	a0001c0001t0003g0184 a0001c0001t0005g0066 a0001c0001t0025g0153 a0001c0001t0003g0184 a0001c0001t0005g0066 a0001c0001t0025g0153	3	160	0.0188	16	c.545 others(31): Show c.545+658_545+673dupGTGTGTGTGTGTGTGT	VPS26B	ENSG00000151502.11	transcript	ENST00000281187.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
VPS29_chr12_110486083_110507111	110492599	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	34	0.0294	16	c.431 others(31): Show c.431+381_431+396dupTAAATAAATAAATAAA	VPS29	ENSG00000111237.19	transcript	ENST00000549578.6	protein_coding	3/3			chr12	TogoVar
VPS33A_chr12_122224564_122271494	122239749	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18939.hp2 NA19074.hp1 HG02083.hp2 NA18939.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0169 a0001c0001t0002g0205 a0001c0001t0002g0165 a0001c0001t0002g0169 a0001c0001t0002g0205	3	49	0.0612	16	c.116 others(33): Show c.1164+113_1164+128dupTTTTTTTTTTTTTTTT	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding	9/12			chr12	TogoVar
VPS33A_chr12_122224564_122271494	122246290	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA19043.hp2 HG02602.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0295 a0001c0001t0001g0237 a0001c0001t0001g0295	2	305	0.0066	16	c.776 others(33): Show c.776-1544_776-1529dupTAAATAAATAAATAAA	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding	6/12			chr12	TogoVar
VPS33B_chr15_90993673_91027594	91026979	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00597.hp2 others(33): Show HG00140.hp2 HG00597.hp1 HG00597.hp2 HG00735.hp2 HG01192.hp2 HG02083.hp2 HG02486.hp2 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03239.hp1 HG03654.hp1 HG03654.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA18949.hp2 NA18950.hp1 NA18964.hp1 NA18972.hp1 NA18983.hp2 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19060.hp1 NA19074.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0003c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0003c0011t0005	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(30): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0191 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0003g0011 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0004g0051 a0001c0003t0001g0068 a0001c0003t0001g0073 a0001c0004t0001g0205 a0001c0006t0001g0045 a0003c0011t0005g0242	36	183	0.1967	16	c.-47 others(27): Show c.-4731_-4730insAAAAAAAAAAAAAAAA	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding		4386		chr15	TogoVar
VPS35L_chr16_19550703_19706163	19570834	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18999.hp2 NA18982.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0252 a0001c0001t0006g0253 a0001c0001t0001g0252 a0001c0001t0006g0253	2	20	0.1000	16	c.285 others(33): Show c.285+1284_285+1299dupATATATATATATATAT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19588158	A A	AGTATGTA others(9): Show AGTATGTATGTATGTAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02809.hp2 others(11): Show HG02109.hp2 HG02280.hp2 HG02809.hp2 HG02970.hp1 HG02970.hp2 HG03195.hp2 HG03209.hp1 HG03579.hp1 NA18906.hp1 NA18959.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0019	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0005c0019t0002	a0001c0001t0001g0015 a0001c0001t0001g0051 a0001c0001t0002g0047 others(11): Show a0001c0001t0001g0015 a0001c0001t0001g0051 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0056 a0001c0002t0001g0118 a0001c0002t0001g0121 a0001c0002t0001g0138 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0068 a0001c0003t0001g0172 a0005c0019t0002g0048	14	144	0.0972	16	c.640 others(33): Show c.640-3615_640-3600dupGTATGTATGTATGTAT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	7/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19666872	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	150	0.0067	16	c.222 others(35): Show c.2222-2241_2222-2226dupTCTTTCTTTCTTTCTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19666919	T T	TCTTTCTT others(9): Show TCTTTCTTCCTTTCTTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0275 a0001c0001t0003g0275	1	193	0.0052	16	c.222 others(35): Show c.2222-2234_2222-2233insCCTTTCTTCCTTTCTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19666927	T T	TCTTTCTT others(9): Show TCTTTCTTCCTTTCTTC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0063 a0001c0003t0001g0063	1	52	0.0192	16	c.222 others(35): Show c.2222-2193_2222-2178dupCCTTTCTTCCTTTCTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19666927	T T	TCTTTCTT others(9): Show TCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	52	0.0192	16	c.222 others(35): Show c.2222-2226_2222-2225insTCTTTCTTCCTTTCTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19674184	C C	CTTTCTTT others(9): Show CTTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	150	0.0067	16	c.236 others(35): Show c.2361+4888_2361+4889insCTTTTTTTTTTTTTTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	27/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35_chr16_46651132_46694178	46663862	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03098.hp2 HG02818.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0120 a0001c0001t0011g0024 a0001c0001t0001g0120 a0001c0001t0011g0024	2	6	0.3333	16	c.164 others(33): Show c.1648-716_1648-701dupAAAAAAAAAAAAAAAA	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding	13/16			chr16	TogoVar
VPS35_chr16_46651132_46694178	46691958	A A	ACACACAC others(9): Show ACACACACACTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18952.hp2 NA18939.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0105 a0001c0001t0002g0085 a0001c0001t0002g0105	2	9	0.2222	16	c.-28 others(27): Show c.-2826_-2825insAGAGAGAGTGTGTGTG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2781		chr16	TogoVar
VPS35_chr16_46651132_46694178	46691958	A A	ACACACAC others(9): Show ACACACACTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01517.hp2 HG02132.hp1 others(1): Show HG01243.hp2 HG01517.hp2 HG02132.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0100 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0100 a0001c0001t0001g0117	4	11	0.3636	16	c.-28 others(27): Show c.-2826_-2825insAGAGAGAGAGTGTGTG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2781		chr16	TogoVar
VPS35_chr16_46651132_46694178	46691958	A A	ACACACTC others(9): Show ACACACTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 NA19089.hp2 HG02615.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0165 a0001c0001t0001g0107 a0001c0001t0001g0165	2	9	0.2222	16	c.-28 others(27): Show c.-2826_-2825insAGAGAGAGAGAGTGTG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2781		chr16	TogoVar
VPS36_chr13_52407606_52455634	52445638	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0200 a0003c0003t0007g0200	1	285	0.0035	16	c.97- others(31): Show c.97-3209_97-3194dupTTTTTTTTTTTTTTTT	VPS36	ENSG00000136100.14	transcript	ENST00000378060.9	protein_coding	1/13			chr13	TogoVar
VPS37A_chr8_17241958_17303024	17256290	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA19030.hp2 HG02647.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0008 a0001c0001t0013	a0001c0001t0008g0307 a0001c0001t0013g0306 a0001c0001t0008g0307 a0001c0001t0013g0306	2	80	0.0250	16	c.125 others(33): Show c.125+8934_125+8949dupTTTTTTTTTTTTTTTT	VPS37A	ENSG00000155975.10	transcript	ENST00000324849.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS41_chr7_38717974_38914191	38720512	A A	ATGTATGT others(9): Show ATGTATGTATGTATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02896.hp1 HG03471.hp2 others(1): Show HG02451.hp1 HG02896.hp1 HG03471.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0042 a0001c0001t0003 a0001c0001t0042	a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0167 others(1): Show a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0167 a0001c0001t0042g0056	4	274	0.0146	16	c.57 others(27): Show c.5733_*5734insCATATACATACATACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2461		chr7	TogoVar
VPS41_chr7_38717974_38914191	38720516	A A	ATGTATGT others(9): Show ATGTATGTATGTATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00735.hp1 HG01517.hp1 others(4): Show HG00438.hp2 HG00735.hp1 HG01517.hp1 HG02055.hp2 HG02074.hp2 HG02083.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 others(3): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0018 a0001c0001t0060 a0001c0002t0007	a0001c0001t0003g0250 a0001c0001t0006g0241 a0001c0001t0006g0249 others(4): Show a0001c0001t0003g0250 a0001c0001t0006g0241 a0001c0001t0006g0249 a0001c0001t0013g0212 a0001c0001t0018g0200 a0001c0001t0060g0271 a0001c0002t0007g0109	7	245	0.0286	16	c.57 others(27): Show c.5729_*5730insCATATACATACATACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2457		chr7	TogoVar
VPS41_chr7_38717974_38914191	38720518	A A	ATGTATGT others(9): Show ATGTATGTATGTATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0248 a0001c0001t0006g0248	1	275	0.0036	16	c.57 others(27): Show c.5727_*5728insCATATACATACATACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2455		chr7	TogoVar
VPS41_chr7_38717974_38914191	38720522	A A	ATGTATGT others(9): Show ATGTATGTATGTATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG03017.hp1 NA18948.hp1 others(1): Show HG02165.hp1 HG03017.hp1 NA18948.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012	a0001c0001t0003g0242 a0001c0001t0006g0268 a0001c0001t0007g0204 others(1): Show a0001c0001t0003g0242 a0001c0001t0006g0268 a0001c0001t0007g0204 a0001c0001t0012g0258	4	271	0.0148	16	c.57 others(27): Show c.5723_*5724insCATATACATACATACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2451		chr7	TogoVar
VPS41_chr7_38717974_38914191	38720526	A A	ATGTATGT others(9): Show ATGTATGTATGTATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG04228.hp2 HG02129.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0041 a0001c0001t0003 a0001c0001t0041	a0001c0001t0003g0234 a0001c0001t0041g0247 a0001c0001t0003g0234 a0001c0001t0041g0247	2	254	0.0079	16	c.57 others(27): Show c.5719_*5720insCATATACATACATACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2447		chr7	TogoVar
VPS41_chr7_38717974_38914191	38720530	A A	ATGTATGT others(9): Show ATGTATGTATGTATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG03688.hp1 NA18999.hp1 HG01243.hp1 HG03688.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0043 a0001c0001t0003 a0001c0001t0043	a0001c0001t0003g0091 a0001c0001t0003g0265 a0001c0001t0043g0199 a0001c0001t0003g0091 a0001c0001t0003g0265 a0001c0001t0043g0199	3	231	0.0130	16	c.57 others(27): Show c.5715_*5716insCATATACATACATACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2443		chr7	TogoVar
VPS41_chr7_38717974_38914191	38720546	A A	ATGTATGT others(9): Show ATGTATGTATATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0269 a0001c0001t0058g0269	1	232	0.0043	16	c.56 others(27): Show c.5699_*5700insCATACATATACATACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2427		chr7	TogoVar

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