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
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(33): Show CCTTCCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	27	0.0370	40	c.205 others(57): Show c.205-6028_205-6027insCCTTTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(33): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	27	0.0370	40	c.205 others(57): Show c.205-6028_205-6027insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTTCTT others(33): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	27	0.0370	40	c.205 others(57): Show c.205-6009_205-5970dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814673	T T	TTCCTTCC others(33): Show TTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	299	0.0033	40	c.205 others(57): Show c.205-6028_205-6027insCCTTCCTTCCTTCCTTTCCTTCCTTCCT TCCTTCCTTCCT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814674	T T	TCCTTCCT others(33): Show TCCTTCCTTCCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	300	0.0033	40	c.205 others(57): Show c.205-6028_205-6027insCCTTCCTTCCTTCCTTCCTTCCTTTCTC TCTCTCTCTCTC	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26			chr19	TogoVar
VAV2_chr9_133756894_133997324	133969133	C C	CCGAGAGC others(33): Show CCGAGAGCTGGATTCCACCGTGCCCGCCGGGCCTGCGAGGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01167.hp2 HG01884.hp1 others(2): Show HG01106.hp1 HG01167.hp2 HG01884.hp1 HG02630.hp2 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0007 others(1): Show a0001c0002 a0001c0003 a0001c0007 a0001c0012	a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 a0001c0007t0003 a0001c0012t0007	a0001c0002t0001g0118 a0001c0002t0002g0019 a0001c0003t0002g0119 others(2): Show a0001c0002t0001g0118 a0001c0002t0002g0019 a0001c0003t0002g0119 a0001c0007t0003g0082 a0001c0012t0007g0080	5	198	0.0253	40	c.204 others(59): Show c.204+22902_204+22941dupTCCTCGCAGGCCCGGCGGGCACGGTG GAATCCAGCTCTCG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	1/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133969201	G G	GGGCCTGC others(33): Show GGGCCTGCGAGGACGAGAGCTGGATTCCACCGTGCCCGCCA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0081 a0001c0006t0002g0081	1	198	0.0051	40	c.204 others(59): Show c.204+22873_204+22874insTGGCGGGCACGGTGGAATCCAGCTCT CGTCCTCGCAGGCC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	1/29			chr9	TogoVar
VAV3_chr1_107566161_107970180	107753513	C C	CACACATA others(33): Show CACACATATATATACACACATATATATATACATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02886.hp1 HG01358.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0136 a0001c0001t0004g0030 a0001c0001t0001g0136 a0001c0001t0004g0030	2	154	0.0130	40	c.117 others(59): Show c.1173+1913_1173+1914insATATATATATGTATATATATATGTGT GTATATATATGTGT	VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	12/26			chr1	TogoVar
VAV3_chr1_107566161_107970180	107753513	C C	CACACATA others(33): Show CACACATATATATACACACATATATATATATACACATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	153	0.0065	40	c.117 others(59): Show c.1173+1913_1173+1914insATATATGTGTATATATATATATGTGT GTATATATATGTGT	VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	12/26			chr1	TogoVar
VAX1_chr10_117128290_117143270	117136816	T T	TGTGGAGG others(33): Show TGTGGAGGGCAAGGGGCCTAACTCCATACCGCTGACCGAAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	454	0.0022	40	c.242 others(55): Show c.242-197_242-158dupCTTCGGTCAGCGGTATGGAGTTAGGCCCCT TGCCCTCCAC	VAX1	ENSG00000148704.13	transcript	ENST00000369206.6	protein_coding	1/2			chr10	TogoVar
VCL_chr10_73993116_74125169	74018177	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATAAATACATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0015 a0007c0020t0015	a0007c0020t0015g0006 a0007c0020t0015g0006	1	112	0.0089	40	c.168 others(59): Show c.168+19827_168+19828insTATAAATACATATATATATATATATA TATATATATATATA	VCL	ENSG00000035403.18	transcript	ENST00000211998.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
VCPIP1_chr8_66623487_66672231	66638970	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0021	1	86	0.0116	40	c.279 others(59): Show c.2798-3599_2798-3598insTATATAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	VCPIP1	ENSG00000175073.8	transcript	ENST00000310421.5	protein_coding	2/2			chr8	TogoVar
VCX2_chrX_8164944_8176267	8169105	C C	CCTCCCCA others(33): Show CCTCCCCACACACCTCCTCTCTCCTCCCTCCCCACACACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0003 a0002c0001t0001g0003	1	79	0.0127	40	c.92 others(49): Show c.926_*927insAGGTGTGTGGGGAGGGAGGAGAGAGGAGGTGTGTGG GGAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		838		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6532996	T T	TCCTCTCC others(33): Show TCCTCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0015 a0005c0007t0015	a0005c0007t0015g0043 a0005c0007t0015g0043	1	69	0.0145	40	c.74 others(49): Show c.748_*749insGGAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGA GAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		621		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8462560	T T	TGAAAACA others(33): Show TGAAAACAGCAACTATAGTGATGGTTACCAGAGGCCAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0026 a0026	a0026c0051 a0026c0051	a0026c0051t0001 a0026c0051t0001	a0026c0051t0001g0021 a0026c0051t0001g0021	1	270	0.0037	40	c.-25 others(51): Show c.-2577_-2576insGAAAACAGCAACTATAGTGATGGTTACCAGAGGC CAGAAG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		2269		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466718	A A	AGGTGGTG others(33): Show AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 NA19066.hp1 HG03491.hp2 NA19066.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0007 a0001c0001 a0008c0007	a0001c0001t0003 a0008c0007t0003 a0001c0001t0003 a0008c0007t0003	a0001c0001t0003g0006 a0008c0007t0003g0006 a0001c0001t0003g0006 a0008c0007t0003g0006	2	127	0.0157	40	c.33 others(49): Show c.335_*336insGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAG AGGT	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		209		chrX	TogoVar
VDAC1_chr5_133966871_134009975	133971061	C C	CGGGAGGC others(33): Show CGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 NA19077.hp1 HG00323.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0049 a0001c0002t0001g0028 a0001c0001t0003g0049 a0001c0002t0001g0028	2	341	0.0059	40	c.17 others(51): Show c.1709_*1710insCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAG CCTCCC	VDAC1	ENSG00000213585.11	transcript	ENST00000265333.8	protein_coding		809		chr5	TogoVar
VEGFB_chr11_64229584_64244264	64237085	A A	AAGAGAGA others(33): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19077.hp2 HG02723.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	2	133	0.0150	40	c.375 others(53): Show c.375-64_375-63insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAG	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
VEGFB_chr11_64229584_64244264	64237123	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	243	0.0041	40	c.375 others(53): Show c.375-64_375-63insAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGA GAGAGAGA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
VEPH1_chr3_157254742_157508416	157304038	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0066 a0002c0003t0002g0066	1	119	0.0084	40	c.201 others(59): Show c.2010+9582_2010+9583insGTGTGTGTATATATATATATATATAT ATATATATATATAT	VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	11/13			chr3	TogoVar
VEPH1_chr3_157254742_157508416	157304038	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01516.hp1 HG01517.hp1 others(7): Show HG01074.hp2 HG01516.hp1 HG01517.hp1 HG01978.hp1 HG02071.hp1 HG02155.hp1 HG03831.hp2 NA18974.hp2 NA19002.hp1 NA19070.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0012 a0002c0003 a0004c0012	a0002c0003t0002 a0004c0012t0002 a0002c0003t0002 a0004c0012t0002	a0002c0003t0002g0035 a0002c0003t0002g0041 a0002c0003t0002g0045 others(7): Show a0002c0003t0002g0035 a0002c0003t0002g0041 a0002c0003t0002g0045 a0002c0003t0002g0064 a0002c0003t0002g0200 a0002c0003t0002g0218 a0002c0003t0002g0255 a0002c0003t0002g0289 a0002c0003t0002g0295 a0004c0012t0002g0291	10	128	0.0781	40	c.201 others(59): Show c.2010+9582_2010+9583insGTGTGTATATATATATATATATATAT ATATATATATATAT	VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	11/13			chr3	TogoVar
VGLL3_chr3_86932973_86996149	86966809	A A	ATATATAT others(33): Show ATATATATATATATATATATATAGTATATATATATAGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	368	0.0027	40	c.937 others(57): Show c.937+1780_937+1781insCACACTATATATATATACTATATATATA TATATATATATA	VGLL3	ENSG00000206538.9	transcript	ENST00000398399.7	protein_coding	3/3			chr3	TogoVar
VIRMA_chr8_94482689_94558469	94556361	A A	AATCTATA others(33): Show AATCTATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	318	0.0031	40	c.-29 others(51): Show c.-2915_-2914insATATATATATATATATATATATATATATATATAT ATAGAT	VIRMA	ENSG00000164944.12	transcript	ENST00000297591.10	protein_coding		2893		chr8	TogoVar
VN1R1_chr19_57449790_57462140	57457933	A A	AGTGTGTG others(33): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	83	0.0120	40	c.-14 others(51): Show c.-1448_-1447insACACACACACACACACACACACACACACACACAC ACACAC	VN1R1	ENSG00000178201.5	transcript	ENST00000321039.5	protein_coding		794		chr19	TogoVar
VN1R4_chr19_53261676_53272723	53270127	A A	ACGCTCCT others(33): Show ACGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGAAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02723.hp2 HG02895.hp1 others(8): Show HG02258.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp2 NA18522.hp1 NA19030.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0006 a0001c0001 a0003c0003 a0005c0006	a0001c0001t0001 a0003c0003t0001 a0005c0006t0001 a0001c0001t0001 a0003c0003t0001 a0005c0006t0001	a0001c0001t0001g0000 a0003c0003t0001g0000 a0005c0006t0001g0000 a0001c0001t0001g0000 a0003c0003t0001g0000 a0005c0006t0001g0000	11	453	0.0243	40	c.-24 others(51): Show c.-2463_-2462insCCTCTTCCCGGCCGCCATCCCATCTAGGAAGTGA GGAGCG	VN1R4	ENSG00000228567.3	transcript	ENST00000311170.5	protein_coding		2405		chr19	TogoVar
VNN2_chr6_132738870_132762904	132750497	G G	GTGTATGT others(33): Show GTGTATGTATATATGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03453.hp1 HG03834.hp2 others(1): Show HG00423.hp1 HG03453.hp1 HG03834.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0140 a0001c0002t0001g0032 a0001c0002t0001g0140	4	197	0.0203	40	c.120 others(57): Show c.1201-633_1201-632insTATATATATATATATATATATATACACA TATATACATACA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding	5/6			chr6	TogoVar
VNN2_chr6_132738870_132762904	132750497	G G	GTGTATGT others(33): Show GTGTATGTATATATGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA21309.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	2	195	0.0103	40	c.120 others(57): Show c.1201-633_1201-632insTATATATATATATATATATATACACACA TATATACATACA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding	5/6			chr6	TogoVar
VPS13A_chr9_77172534_77426537	77207237	A A	ATATATGT others(33): Show ATATATGTATATATATATATATATGTATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0285 a0001c0001t0003g0285	1	271	0.0037	40	c.385 others(57): Show c.385+1163_385+1164insGTATATATATATATATATGTATATATAT ATATACGTATAT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	5/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77207237	A A	ATATATGT others(33): Show ATATATGTATATATATATATATGTATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0299 a0001c0002t0001g0299	1	271	0.0037	40	c.385 others(57): Show c.385+1163_385+1164insGTATATATATATATATGTATATATATAT ATATACGTATAT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	5/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13D_chr1_12225030_12517047	12396029	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0056 a0001c0003t0002g0056	1	74	0.0135	40	c.116 others(61): Show c.11635-4152_11635-4151insTATATATATATATATATATATATA TATATATATATATATT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69			chr1	TogoVar
VPS13D_chr1_12225030_12517047	12433931	T T	TGAGAGAG others(33): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0004 a0001c0006t0003g0004	1	113	0.0088	40	c.123 others(63): Show c.12333+17123_12333+17124insAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAG	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	65/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS16_chr20_2835745_2871732	2842860	C C	CGATAGAT others(33): Show CGATAGATAGATAGATAGATGTATCGATAGATAGATAGATG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	405	0.0025	40	c.53+ others(55): Show c.53+2033_53+2034insGATAGATAGATAGATAGATGTATCGATAGA TAGATAGATG	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS26A_chr10_69119178_69179412	69137862	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03486.hp1 HG02970.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0029 a0001c0002t0008g0033 a0001c0002t0008g0029 a0001c0002t0008g0033	2	314	0.0064	40	c.153 others(57): Show c.153+4835_153+4836insATATATATATATATATATATATATATAT ATATATATATAT	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS35L_chr16_19550703_19706163	19666927	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02818.hp2 HG01891.hp1 HG02280.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0203 a0001c0001t0002g0056 a0001c0001t0002g0200 a0001c0001t0001g0203 a0001c0001t0002g0056 a0001c0001t0002g0200	3	54	0.0556	40	c.222 others(59): Show c.2222-2226_2222-2225insTCTTTCTTCCTTTCTTCCTTTCTTCC TTTCTTCCTTTCTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19666961	T T	TTTCTTCC others(33): Show TTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0057 a0001c0003t0001g0057	1	260	0.0038	40	c.222 others(59): Show c.2222-2178_2222-2177insCCTTTCTTCCTTTCTTCCCTTCTTCC TTTCTTCCTTTCTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS4B_chr18_63384190_63427476	63398204	C C	CACACACA others(33): Show CACACACACACACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0183 a0001c0001t0004g0183	1	316	0.0032	40	c.873 others(55): Show c.873-952_873-951insATATATATATATATATATATATATATGTGT GTGTGTGTGT	VPS4B	ENSG00000119541.10	transcript	ENST00000238497.10	protein_coding	8/10			chr18	TogoVar
VPS53_chr17_503668_719839	543813	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0019 a0003c0004t0004g0019	1	197	0.0051	40	c.186 others(59): Show c.1867-6638_1867-6637insCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	543813	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0100 a0004c0008t0100	a0004c0008t0100g0227 a0004c0008t0100g0227	1	197	0.0051	40	c.186 others(59): Show c.1867-6638_1867-6637insCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTCCT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	662834	A A	AAAGAGAA others(33): Show AAAGAGAAAGAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0044 a0001c0005t0044	a0001c0005t0044g0044 a0001c0005t0044g0044	1	94	0.0106	40	c.286 others(55): Show c.286-940_286-939insCCTTCCTTCCTTCCTTCCTTTCTTTCTTTC TCTTTCTCTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS54_chr2_63887150_64024428	63970244	T T	TATATATA others(33): Show TATATATATAGATATATATAGATATATATAGATATATATAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01167.hp1 HG01169.hp2 others(19): Show HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01261.hp2 HG01993.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03225.hp1 HG03471.hp2 HG03688.hp1 NA18906.hp1 NA18989.hp2 NA19001.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 a0002c0002t0001 a0002c0002t0005 a0002c0006t0001 a0003c0005t0001 a0003c0005t0006	a0001c0001t0001g0026 a0001c0001t0001g0063 a0001c0001t0001g0256 others(19): Show a0001c0001t0001g0026 a0001c0001t0001g0063 a0001c0001t0001g0256 a0001c0001t0002g0199 a0001c0001t0002g0257 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0003t0001g0180 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0301 a0002c0002t0001g0146 a0002c0002t0005g0114 a0002c0002t0005g0117 a0002c0006t0001g0178 a0002c0006t0001g0179 a0003c0005t0001g0005 a0003c0005t0001g0174 a0003c0005t0006g0006 a0003c0005t0006g0008	22	142	0.1549	40	c.458 others(57): Show c.458-1293_458-1254dupCTATATATATCTATATATATCTATATAT ATCTATATATAT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	4/22			chr2	TogoVar
VPS8_chr3_184807166_185057604	184984194	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTCACCAAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19000.hp2 HG00438.hp1 NA19000.hp2	a0001 a0004 a0001 a0004	a0001c0023 a0004c0006 a0001c0023 a0004c0006	a0001c0023t0002 a0004c0006t0003 a0001c0023t0002 a0004c0006t0003	a0001c0023t0002g0127 a0004c0006t0003g0207 a0001c0023t0002g0127 a0004c0006t0003g0207	2	3	0.6667	40	c.358 others(59): Show c.3585+1100_3585+1101insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAACTCACCAAG	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	42/47			chr3	TogoVar
VPS8_chr3_184807166_185057604	185003785	G G	GCTCCTCA others(33): Show GCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCGGAGGGT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	272	0.0037	40	c.400 others(59): Show c.4002+3950_4002+3989dupTGCCGGGCGGAGGGTCTCCTCACTTC TCAGACGGGGCGGC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	45/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	185012978	T T	TATAGTTA others(33): Show TATAGTTATTTCCTACAGGAAATATAGTTATTTCCTACAGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03139.hp1 HG02970.hp1 HG03139.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0033 a0004c0003t0003g0040 a0004c0003t0003g0033 a0004c0003t0003g0040	2	270	0.0074	40	c.400 others(61): Show c.4003-11357_4003-11356insTAGTTATTTCCTACAGGAAATATA GTTATTTCCTACAGGA	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	45/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK2_chr2_58041806_58164871	58136907	A A	ATATATTA others(33): Show ATATATTATATCATATATATGTGTATATATATCATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02647.hp1 HG02896.hp2 others(4): Show HG01891.hp1 HG02647.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0012 others(4): Show a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0012 a0001c0003t0001g0015 a0001c0003t0004g0011 a0001c0003t0004g0013 a0001c0003t0004g0014	7	44	0.1591	40	c.856 others(57): Show c.856+1713_856+1714insTATATCATATATATGTGTATATATATCA TATATATTATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VSIR_chr10_71742556_71778520	71760249	A A	ATGTATAT others(33): Show ATGTATATATATGTATATACATATATATGTATGTATATATG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0296 a0003c0005t0004g0296	1	306	0.0033	40	c.568 others(55): Show c.568+579_568+618dupCATATATACATACATATATATGTATATACA TATATATACA	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6			chr10	TogoVar
VSX2_chr14_74234449_74267738	74244899	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGAAAGAGAGAGAGAAAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0210	1	419	0.0024	40	c.456 others(55): Show c.456-253_456-252insAAAGAGAGAGAGAAAGAGAGAGAGAAAGTG TGTGTGTGTG	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
VSX2_chr14_74234449_74267738	74244901	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGAAAGAGAGAGAGAAAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp2 HG01169.hp1 others(10): Show HG01099.hp1 HG01168.hp2 HG01169.hp1 HG01358.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02602.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG04184.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0044 a0001c0002t0001g0213 others(4): Show a0001c0002t0001g0004 a0001c0002t0001g0044 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0230	13	378	0.0344	40	c.456 others(55): Show c.456-251_456-250insAAAGAGAGAGAGAAAGAGAGAGAGAAAGTG TGTGTGTGTG	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
VTI1A_chr10_112442215_112823744	112618524	T T	TAGAGAGA others(33): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	2	0.5000	40	c.428 others(59): Show c.428-49670_428-49669insAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAG	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112618524	T T	TATAGAGA others(33): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	2	0.5000	40	c.428 others(59): Show c.428-49693_428-49692insTAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112618524	T T	TATATAGA others(33): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18998.hp1 NA18971.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0134 a0001c0001t0004g0096 a0001c0001t0002g0134 a0001c0001t0004g0096	2	3	0.6667	40	c.428 others(59): Show c.428-49693_428-49692insTATAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar

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