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
VPS37A_chr8_17241958_17303024	17262573	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0234	1	204	0.0049	-10	c.126 others(27): Show c.126-3316_126-3307delGTGTGTGTGT	VPS37A	ENSG00000155975.10	transcript	ENST00000324849.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS37A_chr8_17241958_17303024	17277861	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG02809.hp1 others(4): Show HG02109.hp2 HG02615.hp2 HG02809.hp1 HG02970.hp1 NA18522.hp2 NA18962.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0013 a0001c0002t0001 a0001c0001t0010 a0001c0001t0013 a0001c0002t0001	a0001c0001t0010g0004 a0001c0001t0010g0193 a0001c0001t0013g0328 others(1): Show a0001c0001t0010g0004 a0001c0001t0010g0193 a0001c0001t0013g0328 a0001c0002t0001g0225	7	119	0.0588	-10	c.713 others(27): Show c.713+1426_713+1435delCACACACACA	VPS37A	ENSG00000155975.10	transcript	ENST00000324849.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS37B_chr12_122860330_122901124	122864109	GCCCCCCC others(3): Show GCCCCCCCCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02965.hp2 HG03195.hp1 others(1): Show HG02451.hp2 HG02965.hp2 HG03195.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	4	22	0.1818	-10	c.29 others(21): Show c.2997_*3006delGGGGGGGGGG	VPS37B	ENSG00000139722.7	transcript	ENST00000267202.7	protein_coding		1220		chr12	TogoVar
VPS37B_chr12_122860330_122901124	122899050	AACACACA others(3): Show AACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02257.hp2 HG02630.hp2 others(4): Show HG01243.hp1 HG02257.hp2 HG02630.hp2 HG02976.hp1 HG03139.hp2 HG03225.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0109 a0001c0001t0001g0112 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0002g0201 a0001c0001t0002g0204	7	13	0.5385	-10	c.-29 others(21): Show c.-2998_-2989delGTGTGTGTGT	VPS37B	ENSG00000139722.7	transcript	ENST00000267202.7	protein_coding		2927		chr12	TogoVar
VPS37D_chr7_73662831_73677110	73667871	CCGGAGCG others(3): Show CCGGAGCGGAG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18942.hp2 NA19087.hp2 NA21309.hp1 NA18942.hp2 NA19087.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0004 a0001c0001t0004 a0003c0003t0004	a0001c0001t0004g0001 a0003c0003t0004g0005 a0001c0001t0004g0001 a0003c0003t0004g0005	3	375	0.0080	-10	c.-71 others(17): Show c.-71_-62delGGAGCGGAGC	VPS37D	ENSG00000176428.6	transcript	ENST00000324941.5	protein_coding	1/4	62	INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS41_chr7_38717974_38914191	38720554	GTGTGTGT others(3): Show GTGTGTGTGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0128 a0001c0002t0010g0128	1	256	0.0039	-10	c.56 others(21): Show c.5682_*5691delTACACACACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2419		chr7	TogoVar
VPS41_chr7_38717974_38914191	38720556	GTGTGTGT others(3): Show GTGTGTGTATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 NA19084.hp1 NA20300.hp2 HG03540.hp1 NA19084.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0036 a0001c0002t0050 a0001c0001t0005 a0001c0002t0036 a0001c0002t0050	a0001c0001t0005g0045 a0001c0002t0036g0184 a0001c0002t0050g0103 a0001c0001t0005g0045 a0001c0002t0036g0184 a0001c0002t0050g0103	3	247	0.0121	-10	c.56 others(21): Show c.5680_*5689delTATACACACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2417		chr7	TogoVar
VPS41_chr7_38717974_38914191	38720558	GTGTGTAT others(3): Show GTGTGTATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0030 a0001c0001t0027g0030	1	216	0.0046	-10	c.56 others(21): Show c.5678_*5687delTATATACACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2415		chr7	TogoVar
VPS41_chr7_38717974_38914191	38720562	GTATATAT others(3): Show GTATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02165.hp2 HG02258.hp1 others(4): Show HG02083.hp2 HG02165.hp2 HG02258.hp1 HG02970.hp2 HG03927.hp2 NA18980.hp2 NA19004.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0015	a0001c0001t0005 a0001c0001t0014 a0001c0002t0004 others(2): Show a0001c0001t0005 a0001c0001t0014 a0001c0002t0004 a0001c0003t0009 a0003c0015t0001	a0001c0001t0005g0034 a0001c0001t0005g0049 a0001c0001t0005g0243 others(4): Show a0001c0001t0005g0034 a0001c0001t0005g0049 a0001c0001t0005g0243 a0001c0001t0014g0134 a0001c0002t0004g0201 a0001c0003t0009g0067 a0003c0015t0001g0068	7	178	0.0393	-10	c.56 others(21): Show c.5674_*5683delTATATATATA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2411		chr7	TogoVar
VPS41_chr7_38717974_38914191	38735477	GTGTGTGT others(3): Show GTGTGTGTACA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02965.hp2 others(2): Show HG01884.hp2 HG02258.hp1 HG02965.hp2 HG02970.hp2 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0015 a0001c0001 a0001c0003 a0003c0015	a0001c0001t0038 a0001c0003t0001 a0001c0003t0009 others(1): Show a0001c0001t0038 a0001c0003t0001 a0001c0003t0009 a0003c0015t0001	a0001c0001t0038g0213 a0001c0003t0001g0069 a0001c0003t0001g0119 others(2): Show a0001c0001t0038g0213 a0001c0003t0001g0069 a0001c0003t0001g0119 a0001c0003t0009g0067 a0003c0015t0001g0068	5	276	0.0181	-10	c.225 others(29): Show c.2259+6498_2259+6507delTGTACACACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding	25/28			chr7	TogoVar
VPS41_chr7_38717974_38914191	38860697	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02129.hp1 HG02886.hp2 others(3): Show HG01106.hp2 HG02129.hp1 HG02886.hp2 HG04204.hp1 NA18950.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0005 a0001c0001t0023 a0001c0001t0055 others(3): Show a0001c0001t0005 a0001c0001t0023 a0001c0001t0055 a0001c0002t0002 a0001c0003t0028 a0001c0005t0034	a0001c0001t0005g0038 a0001c0001t0023g0086 a0001c0001t0055g0087 others(3): Show a0001c0001t0005g0038 a0001c0001t0023g0086 a0001c0001t0055g0087 a0001c0002t0002g0131 a0001c0003t0028g0072 a0001c0005t0034g0196	6	23	0.2609	-10	c.246 others(27): Show c.246+1838_246+1847delCACACACACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding	4/28			chr7	TogoVar
VPS41_chr7_38717974_38914191	38868838	GAATCCTT others(3): Show GAATCCTTATA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0046 a0001c0013t0046	a0001c0013t0046g0083 a0001c0013t0046g0083	1	276	0.0036	-10	c.168 others(25): Show c.168+298_168+307delTATAAGGATT	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding	3/28			chr7	TogoVar
VPS45_chr1_150062776_150150329	150140386	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	48	0.0208	-10	c.162 others(29): Show c.1626-4290_1626-4281delGTGTGTGTGT	VPS45	ENSG00000136631.16	transcript	ENST00000644510.2	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS45_chr1_150062776_150150329	150145590	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG02723.hp2 others(7): Show HG01891.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(7): Show a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0002g0014 a0002c0002t0002g0015	10	32	0.3125	-10	c.79 others(19): Show c.795_*804delTGTGTGTGTG	VPS45	ENSG00000136631.16	transcript	ENST00000644510.2	protein_coding		262		chr1	TogoVar
VPS4A_chr16_69306350_69331939	69310070	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	34	0.0294	-10	c.-14 others(21): Show c.-1441_-1432delTTTTTTTTTT	VPS4A	ENSG00000132612.16	transcript	ENST00000254950.13	protein_coding		1279		chr16	TogoVar
VPS4A_chr16_69306350_69331939	69327160	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0096 a0001c0002t0021g0096	1	242	0.0041	-10	c.28 others(21): Show c.2852_*2861delTTTTTTTTTT	VPS4A	ENSG00000132612.16	transcript	ENST00000254950.13	protein_coding		222		chr16	TogoVar
VPS4B_chr18_63384190_63427476	63387072	TCACACAC others(3): Show TCACACACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0186 a0001c0001t0003g0186	1	212	0.0047	-10	c.38 others(21): Show c.3893_*3902delTGTGTGTGTG	VPS4B	ENSG00000119541.10	transcript	ENST00000238497.10	protein_coding		2117		chr18	TogoVar
VPS50_chr7_93227366_93366123	93236937	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0295	1	119	0.0084	-10	c.34- others(25): Show c.34-2906_34-2897delTTTTTTTTTT	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS50_chr7_93227366_93366123	93240245	ACACACTC others(3): Show ACACACTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0249 a0001c0002t0014g0249	1	308	0.0032	-10	c.102 others(25): Show c.102+313_102+322delACACTCTCTC	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS50_chr7_93227366_93366123	93240247	ACACTCTC others(3): Show ACACTCTCTCT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0258 a0001c0002t0001g0258	1	265	0.0038	-10	c.102 others(25): Show c.102+315_102+324delACTCTCTCTC	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS50_chr7_93227366_93366123	93300743	ATCAAGTT others(3): Show ATCAAGTTTGG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0274 a0001c0002t0002g0274	1	314	0.0032	-10	c.136 others(29): Show c.1362-2714_1362-2705delAAGTTTGGTC	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding	16/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS51_chr11_65091214_65116862	65101762	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19030.hp2 HG03041.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0133 a0001c0001t0001g0112 a0001c0001t0001g0133	2	131	0.0153	-10	c.358 others(27): Show c.358+4655_358+4664delAAAAAAAAAA	VPS51	ENSG00000149823.10	transcript	ENST00000279281.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
VPS52_chr6_33245278_33276876	33255462	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG02622.hp2 others(9): Show HG00741.hp2 HG01123.hp2 HG02622.hp2 HG02647.hp1 HG02818.hp2 HG02970.hp2 HG02976.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0032 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146	12	143	0.0839	-10	c.179 others(29): Show c.1795-3501_1795-3492delAAAAAAAAAA	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS52_chr6_33245278_33276876	33256463	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03209.hp2 HG02109.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0008 a0001c0004t0001 a0001c0002t0008 a0001c0004t0001	a0001c0002t0008g0096 a0001c0004t0001g0134 a0001c0002t0008g0096 a0001c0004t0001g0134	2	44	0.0455	-10	c.179 others(29): Show c.1795-4502_1795-4493delTTTTTTTTTT	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS53_chr17_503668_719839	506293	GGGTCAGG others(3): Show GGGTCAGGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02622.hp2 others(7): Show HG01884.hp1 HG01891.hp1 HG02622.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG03139.hp2 HG03225.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0032 a0001c0001t0084 others(4): Show a0001c0001t0016 a0001c0001t0032 a0001c0001t0084 a0001c0001t0085 a0001c0001t0094 a0001c0001t0108 a0001c0001t0109	a0001c0001t0016g0159 a0001c0001t0016g0205 a0001c0001t0016g0206 others(7): Show a0001c0001t0016g0159 a0001c0001t0016g0205 a0001c0001t0016g0206 a0001c0001t0032g0150 a0001c0001t0032g0151 a0001c0001t0084g0198 a0001c0001t0085g0152 a0001c0001t0094g0199 a0001c0001t0108g0164 a0001c0001t0109g0157	10	230	0.0435	-10	c.12 others(23): Show c.12825_*12834delTGTCCTGACC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		2374		chr17	TogoVar
VPS53_chr17_503668_719839	506488	GGGTCAGG others(3): Show GGGTCAGGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0083 a0001c0002t0083	a0001c0002t0083g0221 a0001c0002t0083g0221	1	230	0.0043	-10	c.12 others(23): Show c.12630_*12639delTGTCCTGACC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		2179		chr17	TogoVar
VPS53_chr17_503668_719839	506618	GGGTCAGG others(3): Show GGGTCAGGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01099.hp1 HG01109.hp2 others(33): Show HG00423.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01928.hp1 HG01981.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02135.hp1 HG02145.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02622.hp1 HG02723.hp2 HG03225.hp2 HG03491.hp2 NA18612.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18961.hp1 NA18962.hp2 NA18979.hp1 NA18987.hp1 NA19000.hp1 NA19007.hp1 NA19010.hp1 NA19060.hp2 NA19065.hp1 NA19074.hp1 NA19080.hp2 NA19084.hp2 NA19090.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0015 a0001c0001t0031 a0001c0001t0091 others(20): Show a0001c0001t0015 a0001c0001t0031 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0102 a0001c0002t0005 a0001c0002t0007 a0001c0002t0052 a0001c0002t0054 a0001c0002t0061 a0001c0002t0083 a0002c0003t0008 a0002c0003t0009 a0002c0003t0030 a0002c0003t0082 a0002c0003t0087 a0002c0003t0088 a0002c0003t0089 a0002c0003t0090 a0002c0003t0101 a0002c0003t0142 a0003c0004t0005	a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 others(33): Show a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 a0001c0001t0031g0196 a0001c0001t0031g0197 a0001c0001t0091g0129 a0001c0001t0092g0145 a0001c0001t0093g0146 a0001c0001t0102g0201 a0001c0002t0005g0061 a0001c0002t0005g0065 a0001c0002t0007g0058 a0001c0002t0007g0062 a0001c0002t0007g0081 a0001c0002t0052g0089 a0001c0002t0054g0049 a0001c0002t0061g0052 a0001c0002t0083g0221 a0002c0003t0008g0180 a0002c0003t0008g0182 a0002c0003t0008g0183 a0002c0003t0008g0217 a0002c0003t0009g0185 a0002c0003t0009g0186 a0002c0003t0009g0188 a0002c0003t0009g0218 a0002c0003t0030g0169 a0002c0003t0030g0181 a0002c0003t0082g0184 a0002c0003t0087g0171 a0002c0003t0088g0209 a0002c0003t0089g0190 a0002c0003t0090g0173 a0002c0003t0101g0208 a0002c0003t0142g0191 a0003c0004t0005g0028	36	219	0.1644	-10	c.12 others(23): Show c.12500_*12509delTGTCCTGACC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		2049		chr17	TogoVar
VPS53_chr17_503668_719839	506943	GGGTCAGG others(3): Show GGGTCAGGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 NA19060.hp1 NA19081.hp1 HG02818.hp2 NA19060.hp1 NA19081.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0095 a0003c0004t0005 a0001c0001t0095 a0003c0004t0005	a0001c0001t0095g0147 a0003c0004t0005g0027 a0003c0004t0005g0029 a0001c0001t0095g0147 a0003c0004t0005g0027 a0003c0004t0005g0029	3	230	0.0130	-10	c.12 others(23): Show c.12175_*12184delTGTCCTGACC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		1724		chr17	TogoVar
VPS53_chr17_503668_719839	546329	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02132.hp2 HG01346.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0114 a0001c0001t0017 a0001c0001t0114	a0001c0001t0017g0125 a0001c0001t0114g0195 a0001c0001t0017g0125 a0001c0001t0114g0195	2	27	0.0741	-10	c.186 others(29): Show c.1866+5533_1866+5542delTGTGTGTGTG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	610127	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(47): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00621.hp2 HG01071.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG02040.hp2 HG02109.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp2 NA18940.hp1 NA18948.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18967.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18987.hp2 NA18990.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19065.hp1 NA19066.hp1 NA19079.hp1 NA19084.hp1 NA19090.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0004c0008	a0001c0001t0002 a0001c0001t0031 a0001c0001t0032 others(36): Show a0001c0001t0002 a0001c0001t0031 a0001c0001t0032 a0001c0001t0037 a0001c0001t0084 a0001c0001t0085 a0001c0001t0094 a0001c0001t0102 a0001c0001t0103 a0001c0001t0108 a0001c0001t0115 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0018 a0001c0002t0020 a0001c0002t0021 a0001c0002t0023 a0001c0002t0025 a0001c0002t0027 a0001c0002t0029 a0001c0002t0035 a0001c0002t0052 a0001c0002t0061 a0001c0002t0079 a0001c0002t0080 a0001c0002t0135 a0001c0002t0141 a0001c0006t0041 a0002c0003t0027 a0004c0008t0020 a0004c0008t0035 a0004c0008t0038 a0004c0008t0100 a0004c0008t0126	a0001c0001t0002g0133 a0001c0001t0031g0196 a0001c0001t0031g0197 others(47): Show a0001c0001t0002g0133 a0001c0001t0031g0196 a0001c0001t0031g0197 a0001c0001t0032g0151 a0001c0001t0037g0126 a0001c0001t0084g0198 a0001c0001t0085g0152 a0001c0001t0094g0199 a0001c0001t0102g0201 a0001c0001t0103g0117 a0001c0001t0108g0164 a0001c0001t0115g0144 a0001c0002t0001g0056 a0001c0002t0001g0066 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0005g0065 a0001c0002t0007g0058 a0001c0002t0007g0062 a0001c0002t0007g0063 a0001c0002t0007g0081 a0001c0002t0010g0057 a0001c0002t0013g0078 a0001c0002t0013g0083 a0001c0002t0014g0074 a0001c0002t0014g0077 a0001c0002t0018g0225 a0001c0002t0020g0224 a0001c0002t0021g0087 a0001c0002t0023g0085 a0001c0002t0025g0076 a0001c0002t0027g0070 a0001c0002t0029g0059 a0001c0002t0029g0060 a0001c0002t0035g0116 a0001c0002t0052g0089 a0001c0002t0061g0052 a0001c0002t0079g0069 a0001c0002t0080g0067 a0001c0002t0135g0226 a0001c0002t0141g0202 a0001c0006t0041g0003 a0002c0003t0027g0068 a0004c0008t0020g0228 a0004c0008t0035g0229 a0004c0008t0038g0203 a0004c0008t0100g0227 a0004c0008t0126g0232	50	52	0.9615	-10	c.111 others(29): Show c.1117-8241_1117-8232delTGTGTGTGTG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VPS53_chr17_503668_719839	656700	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0146 a0001c0001t0093g0146	1	4	0.2500	-10	c.373 others(25): Show c.373-757_373-748delCACACACACA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	5/21			chr17	TogoVar
VPS53_chr17_503668_719839	662811	AAGAAAGA others(3): Show AAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0072 a0001c0002t0072	a0001c0002t0072g0051 a0001c0002t0072g0051	1	226	0.0044	-10	c.286 others(25): Show c.286-926_286-917delCTTTCTTTCT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS53_chr17_503668_719839	663813	CCAATGGT others(3): Show CCAATGGTAAA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01516.hp2 HG01517.hp1 others(27): Show HG01257.hp2 HG01516.hp2 HG01517.hp1 HG02074.hp1 HG02109.hp1 HG03831.hp2 NA18612.hp2 NA18906.hp1 NA18945.hp1 NA18950.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18977.hp1 NA18978.hp1 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18994.hp1 NA19011.hp2 NA19060.hp1 NA19064.hp1 NA19068.hp1 NA19080.hp1 NA19081.hp1 NA19087.hp2 NA19091.hp2 NA20805.hp1 NA21309.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0004 a0003c0004t0005 others(11): Show a0003c0004t0003 a0003c0004t0004 a0003c0004t0005 a0003c0004t0006 a0003c0004t0023 a0003c0004t0028 a0003c0004t0051 a0003c0004t0059 a0003c0004t0062 a0003c0004t0063 a0003c0004t0064 a0003c0004t0066 a0003c0004t0067 a0003c0004t0078	a0003c0004t0003g0015 a0003c0004t0003g0018 a0003c0004t0003g0036 others(27): Show a0003c0004t0003g0015 a0003c0004t0003g0018 a0003c0004t0003g0036 a0003c0004t0003g0037 a0003c0004t0003g0043 a0003c0004t0004g0014 a0003c0004t0004g0019 a0003c0004t0004g0021 a0003c0004t0004g0025 a0003c0004t0004g0026 a0003c0004t0004g0032 a0003c0004t0004g0040 a0003c0004t0005g0027 a0003c0004t0005g0028 a0003c0004t0005g0029 a0003c0004t0006g0016 a0003c0004t0006g0022 a0003c0004t0006g0023 a0003c0004t0006g0024 a0003c0004t0006g0033 a0003c0004t0023g0004 a0003c0004t0028g0038 a0003c0004t0051g0017 a0003c0004t0059g0020 a0003c0004t0062g0030 a0003c0004t0063g0039 a0003c0004t0064g0031 a0003c0004t0066g0034 a0003c0004t0067g0042 a0003c0004t0078g0035	30	230	0.1304	-10	c.286 others(27): Show c.286-1928_286-1919delTTTACCATTG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS53_chr17_503668_719839	672109	GACACACA others(3): Show GACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01516.hp2 HG01517.hp1 others(26): Show HG01257.hp2 HG01516.hp2 HG01517.hp1 HG02074.hp1 HG02109.hp1 HG03831.hp2 NA18612.hp2 NA18906.hp1 NA18945.hp1 NA18950.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18977.hp1 NA18978.hp1 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18994.hp1 NA19011.hp2 NA19060.hp1 NA19064.hp1 NA19068.hp1 NA19080.hp1 NA19081.hp1 NA19091.hp2 NA20805.hp1 NA21309.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0004 a0003c0004t0005 others(11): Show a0003c0004t0003 a0003c0004t0004 a0003c0004t0005 a0003c0004t0006 a0003c0004t0023 a0003c0004t0028 a0003c0004t0051 a0003c0004t0059 a0003c0004t0062 a0003c0004t0063 a0003c0004t0064 a0003c0004t0066 a0003c0004t0067 a0003c0004t0078	a0003c0004t0003g0015 a0003c0004t0003g0018 a0003c0004t0003g0036 others(26): Show a0003c0004t0003g0015 a0003c0004t0003g0018 a0003c0004t0003g0036 a0003c0004t0003g0037 a0003c0004t0003g0043 a0003c0004t0004g0014 a0003c0004t0004g0019 a0003c0004t0004g0021 a0003c0004t0004g0025 a0003c0004t0004g0026 a0003c0004t0004g0040 a0003c0004t0005g0027 a0003c0004t0005g0028 a0003c0004t0005g0029 a0003c0004t0006g0016 a0003c0004t0006g0022 a0003c0004t0006g0023 a0003c0004t0006g0024 a0003c0004t0006g0033 a0003c0004t0023g0004 a0003c0004t0028g0038 a0003c0004t0051g0017 a0003c0004t0059g0020 a0003c0004t0062g0030 a0003c0004t0063g0039 a0003c0004t0064g0031 a0003c0004t0066g0034 a0003c0004t0067g0042 a0003c0004t0078g0035	29	45	0.6444	-10	c.286 others(29): Show c.286-10224_286-10215delGTGTGTGTGT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS54_chr2_63887150_64024428	63915151	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19043.hp1 HG03195.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0044 a0001c0001t0002g0045	2	192	0.0104	-10	c.222 others(27): Show c.2229-874_2229-865delTTTTTTTTTT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	16/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	63969017	ATTTTTAA others(3): Show ATTTTTAAAAC	A A	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	302	0.0033	-10	c.458 others(23): Show c.458-36_458-27delGTTTTAAAAA	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	4/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	63970212	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp2 HG02630.hp2 others(6): Show HG02145.hp1 HG02559.hp2 HG02630.hp2 HG02818.hp1 HG02970.hp2 HG03130.hp1 HG03471.hp2 NA18906.hp1 NA20300.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0006 a0003c0005t0009 a0003c0005t0001 a0003c0005t0006 a0003c0005t0009	a0003c0005t0001g0005 a0003c0005t0001g0007 a0003c0005t0001g0009 others(6): Show a0003c0005t0001g0005 a0003c0005t0001g0007 a0003c0005t0001g0009 a0003c0005t0001g0012 a0003c0005t0001g0013 a0003c0005t0001g0174 a0003c0005t0006g0006 a0003c0005t0006g0008 a0003c0005t0009g0004	9	141	0.0638	-10	c.458 others(27): Show c.458-1231_458-1222delGTGTGTGTGT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	4/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	63970244	TATATATA others(3): Show TATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp1 HG01515.hp2 others(31): Show HG01070.hp1 HG01074.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG02015.hp2 HG02055.hp2 HG02257.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp2 HG03654.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18943.hp1 NA19043.hp2 NA19240.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0007 a0001c0001 a0001c0004 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0004t0001 a0004c0007t0002	a0001c0001t0001g0025 a0001c0001t0001g0088 a0001c0001t0001g0149 others(31): Show a0001c0001t0001g0025 a0001c0001t0001g0088 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0248 a0001c0001t0001g0271 a0001c0001t0002g0148 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0203 a0001c0001t0008g0002 a0001c0001t0008g0003 a0001c0004t0001g0024 a0001c0004t0001g0049 a0001c0004t0001g0053 a0004c0007t0002g0222	34	154	0.2208	-10	c.458 others(27): Show c.458-1263_458-1254delCTATATATAT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	4/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	63985680	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00438.hp1 others(77): Show HG00140.hp1 HG00280.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG02071.hp1 HG02074.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18942.hp2 NA18949.hp2 NA18954.hp1 NA18963.hp1 NA18975.hp1 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA19001.hp1 NA19009.hp2 NA19066.hp2 NA19068.hp1 NA19080.hp1 NA19081.hp2 NA19240.hp2 NA20805.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0009 a0001c0001 a0002c0002 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0005c0009t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 others(77): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0110 a0001c0001t0001g0186 a0001c0001t0001g0265 a0001c0001t0002g0181 a0001c0001t0002g0196 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0113 a0002c0002t0001g0115 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0004g0129 a0002c0002t0004g0138 a0002c0002t0004g0139 a0002c0002t0004g0140 a0002c0002t0004g0267 a0002c0002t0005g0114 a0002c0002t0005g0116 a0002c0002t0005g0117 a0002c0002t0005g0118 a0005c0009t0001g0068	80	178	0.4494	-10	c.-20 others(27): Show c.-20-1671_-20-1662delGTGTGTGTGT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	1/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	64005089	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0168 a0001c0001t0007g0168	1	26	0.0385	-10	c.-21 others(29): Show c.-21+13839_-21+13848delAAAAAAAAAA	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	1/22			chr2	TogoVar
VPS8_chr3_184807166_185057604	184818866	AAGGTGAA others(3): Show AAGGTGAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp1 HG02615.hp2 others(10): Show HG01074.hp1 HG01109.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03471.hp2 HG03486.hp1 NA21309.hp2	a0003 a0004 a0003 a0004	a0003c0005 a0003c0012 a0003c0037 others(2): Show a0003c0005 a0003c0012 a0003c0037 a0004c0003 a0004c0006	a0003c0005t0001 a0003c0012t0001 a0003c0037t0001 others(3): Show a0003c0005t0001 a0003c0012t0001 a0003c0037t0001 a0004c0003t0001 a0004c0006t0003 a0004c0006t0007	a0003c0005t0001g0049 a0003c0012t0001g0052 a0003c0037t0001g0067 others(10): Show a0003c0005t0001g0049 a0003c0012t0001g0052 a0003c0037t0001g0067 a0004c0003t0001g0018 a0004c0003t0001g0019 a0004c0006t0003g0046 a0004c0006t0003g0047 a0004c0006t0003g0048 a0004c0006t0003g0050 a0004c0006t0003g0051 a0004c0006t0003g0053 a0004c0006t0007g0020 a0004c0006t0007g0021	13	272	0.0478	-10	c.-88 others(27): Show c.-88-5678_-88-5669delAGGTGAAAAC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	1/47			chr3	TogoVar
VPS8_chr3_184807166_185057604	184936515	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01192.hp2 HG01261.hp1 others(2): Show HG00323.hp1 HG01192.hp2 HG01261.hp1 HG01884.hp1 NA18974.hp2	a0003 a0005 a0003 a0005	a0003c0004 a0005c0011 a0003c0004 a0005c0011	a0003c0004t0005 a0005c0011t0004 a0003c0004t0005 a0005c0011t0004	a0003c0004t0005g0010 a0005c0011t0004g0257 a0005c0011t0004g0258 others(2): Show a0003c0004t0005g0010 a0005c0011t0004g0257 a0005c0011t0004g0258 a0005c0011t0004g0259 a0005c0011t0004g0260	5	41	0.1220	-10	c.298 others(27): Show c.2988+217_2988+226delTGTGTGTGTG	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	35/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184950216	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02896.hp1 HG02897.hp1 others(4): Show HG01358.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03139.hp1 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0002 a0004c0003t0001 a0004c0003t0003 a0001c0001t0002 a0004c0003t0001 a0004c0003t0003	a0001c0001t0002g0263 a0004c0003t0001g0018 a0004c0003t0001g0019 others(4): Show a0001c0001t0002g0263 a0004c0003t0001g0018 a0004c0003t0001g0019 a0004c0003t0003g0033 a0004c0003t0003g0034 a0004c0003t0003g0040 a0004c0003t0003g0042	7	19	0.3684	-10	c.303 others(29): Show c.3036-7139_3036-7130delTTTTTTTTTT	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	36/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184962724	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00438.hp1 others(95): Show HG00099.hp2 HG00280.hp2 HG00438.hp1 HG00544.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02976.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18948.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp2 NA18972.hp2 NA18979.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp2 NA18994.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19082.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0009 a0013 a0016 a0017	a0001c0001 a0001c0010 a0001c0023 others(6): Show a0001c0001 a0001c0010 a0001c0023 a0002c0002 a0004c0006 a0009c0014 a0013c0020 a0016c0043 a0017c0024	a0001c0001t0002 a0001c0010t0002 a0001c0023t0002 others(6): Show a0001c0001t0002 a0001c0010t0002 a0001c0023t0002 a0002c0002t0001 a0004c0006t0003 a0009c0014t0002 a0013c0020t0002 a0016c0043t0002 a0017c0024t0002	a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0002g0080 others(95): Show a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0010t0002g0184 a0001c0010t0002g0185 a0001c0010t0002g0186 a0001c0010t0002g0187 a0001c0023t0002g0127 a0002c0002t0001g0248 a0002c0002t0001g0256 a0002c0002t0001g0270 a0004c0006t0003g0046 a0004c0006t0003g0047 a0004c0006t0003g0048 a0004c0006t0003g0207 a0009c0014t0002g0121 a0009c0014t0002g0195 a0013c0020t0002g0125 a0016c0043t0002g0193 a0017c0024t0002g0132	98	110	0.8909	-10	c.318 others(29): Show c.3184-1711_3184-1702delGTGTGTGTGT	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	37/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184998479	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA20905.hp2 HG02895.hp1 NA20905.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0077 a0004c0003t0001g0208 a0004c0003t0001g0077 a0004c0003t0001g0208	2	4	0.5000	-10	c.383 others(29): Show c.3837-1166_3837-1157delTATATATATA	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	44/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	185026701	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0014 a0014	a0014c0035 a0014c0035	a0014c0035t0001 a0014c0035t0001	a0014c0035t0001g0056 a0014c0035t0001g0056	1	189	0.0053	-10	c.405 others(29): Show c.4056+2328_4056+2337delTTTTTTTTTT	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	46/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK1_chr14_96792382_96886609	96808017	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00639.hp2 others(69): Show HG00438.hp2 HG00558.hp1 HG00639.hp2 HG00735.hp1 HG01071.hp1 HG01109.hp1 HG01169.hp1 HG01257.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02109.hp2 HG02148.hp1 HG02615.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03669.hp2 HG03831.hp1 HG04184.hp2 HG04204.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18952.hp1 NA18952.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18984.hp1 NA18991.hp1 NA18993.hp1 NA18998.hp2 NA19001.hp2 NA19006.hp2 NA19007.hp2 NA19011.hp2 NA19055.hp1 NA19062.hp2 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 a0001c0001t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(61): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0002g0235 a0002c0004t0001g0184	72	166	0.4337	-10	c.-6+ others(27): Show c.-6+10599_-6+10608delTGTGTGTGTG	VRK1	ENSG00000100749.9	transcript	ENST00000216639.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
VRK1_chr14_96792382_96886609	96867456	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02572.hp1 others(14): Show HG02145.hp2 HG02257.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0083 a0001c0002t0001g0084 others(13): Show a0001c0002t0001g0017 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246	17	49	0.3469	-10	c.106 others(29): Show c.1068+6748_1068+6757delGTGTGTGTGT	VRK1	ENSG00000100749.9	transcript	ENST00000216639.8	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
VRK2_chr2_58041806_58164871	58081857	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02257.hp1 others(15): Show HG01891.hp2 HG02109.hp1 HG02257.hp1 HG02559.hp1 HG02615.hp1 HG02630.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2 NA18906.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0309 a0001c0001t0001g0310 others(15): Show a0001c0001t0001g0259 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327	18	62	0.2903	-10	c.137 others(27): Show c.137-2199_137-2190delGTGTGTGTGT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK3_chr19_49971468_50030372	50019674	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03540.hp1 HG02615.hp2 HG03540.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0019 a0003c0004t0001g0019	2	18	0.1111	-10	c.-2+ others(23): Show c.-2+901_-2+910delAAAAAAAAAA	VRK3	ENSG00000105053.11	transcript	ENST00000316763.8	protein_coding	2/14			chr19	TogoVar

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