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
UMPS_chr3_124725452_124754273	124751346	G G	GGAGAGGG others(41): Show GGAGAGGGAGAGGGAGAGGGAGAGGGACAGGGAGAGGGACAGGGAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02965.hp1 HG03139.hp1 others(2): Show HG00639.hp1 HG02965.hp1 HG03139.hp1 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0084 a0001c0001t0024 a0001c0001t0084	a0001c0001t0024g0028 a0001c0001t0024g0116 a0001c0001t0024g0119 others(1): Show a0001c0001t0024g0028 a0001c0001t0024g0116 a0001c0001t0024g0119 a0001c0001t0084g0028	5	167	0.0299	48	c.72 others(59): Show c.7262_*7263insGAGAGGGAGAGGGAGAGGGAGAGGGACAGGGAGA GGGACAGGGAGAGT	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding		2074		chr3	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0026 a0001c0040t0026	a0001c0040t0026g0027 a0001c0040t0026g0027	1	54	0.0185	48	c.493 others(69): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTAT ATATATATATATATATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0110 a0001c0003t0009g0110	1	54	0.0185	48	c.493 others(69): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTATATATATATATATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0011 a0001c0003t0004g0011	1	54	0.0185	48	c.493 others(69): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTATATATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0004 a0002c0016t0004	a0002c0016t0004g0053 a0002c0016t0004g0053	1	54	0.0185	48	c.493 others(69): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTATATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0120 a0001c0003t0005g0120	1	54	0.0185	48	c.493 others(69): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5A_chr5_176805559_176885898	176830571	T T	TGTGTGTG others(41): Show TGTGTGTGCGCGTGCTGGTGTGTGCATGCTGGTGTGTGTGTGCGCTGGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02976.hp1 HG03098.hp1 HG02630.hp1 HG02976.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0005 a0001c0001t0014	a0001c0001t0005g0008 a0001c0001t0005g0023 a0001c0001t0014g0061 a0001c0001t0005g0008 a0001c0001t0005g0023 a0001c0001t0014g0061	3	266	0.0113	48	c.70+ others(65): Show c.70+19758_70+19759insCGCGTGCTGGTGTGTGCATGCTGGTGTG TGTGTGCGCTGGCGTGTGTG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5C_chr4_95157504_95553973	95256699	A A	AATATATA others(41): Show AATATATATATATATATAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02155.hp2 NA18961.hp2 HG00544.hp1 HG02155.hp2 NA18961.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0034 a0002c0025 a0001c0003 a0001c0034 a0002c0025	a0001c0003t0001 a0001c0034t0030 a0002c0025t0001 a0001c0003t0001 a0001c0034t0030 a0002c0025t0001	a0001c0003t0001g0064 a0001c0034t0030g0092 a0002c0025t0001g0143 a0001c0003t0001g0064 a0001c0034t0030g0092 a0002c0025t0001g0143	3	145	0.0207	48	c.595 others(65): Show c.595-6033_595-6032insATATATATATATATATATATATATATAT ATTTATATATATATATATAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95256714	A A	ATAAATAT others(41): Show ATAAATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0002 a0002c0025t0002	a0002c0025t0002g0151 a0002c0025t0002g0151	1	188	0.0053	48	c.595 others(65): Show c.595-6048_595-6047insCATATATATATATATATATATATATATA TATATATATATATATATTTA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UPF1_chr19_18826959_18873230	18829608	T T	TATATATA others(41): Show TATATATATGTATATATATATATACATATATATATGTATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	348	0.0029	48	c.-26 others(59): Show c.-2602_-2601insATATATATGTATATATATATATACATATATATAT GTATATATATATAC	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2350		chr19	TogoVar
UPK1A_chr19_35661517_35683481	35665557	G G	GTGCCCCC others(41): Show GTGCCCCCTCTCATTTTCTAGCACGTTTCTTCAAACACAAGCCGTGTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	418	0.0024	48	c.-98 others(57): Show c.-986_-985insTGCCCCCTCTCATTTTCTAGCACGTTTCTTCAAACA CAAGCCGTGTTC	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		959		chr19	TogoVar
UPK3BL1_chr7_102632025_102647791	102646957	A A	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAGAAGAAAGAAAGAAAGAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0095 a0001c0001t0008g0095	1	140	0.0071	48	c.-42 others(59): Show c.-4217_-4216insCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTCTTC TTTCTTTCTTTCTT	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		4167		chr7	TogoVar
URAD_chr13_27972717_27993693	27990950	G G	GGTATAGG others(41): Show GGTATAGGTGTAGGTATATGTATATGTATATGTATAGGTATATGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02109.hp2 HG02559.hp1 others(2): Show HG00639.hp2 HG02109.hp2 HG02559.hp1 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0032 a0001c0001t0002g0052 a0001c0001t0002g0015 a0001c0001t0002g0032 a0001c0001t0002g0052	5	398	0.0126	48	c.-23 others(59): Show c.-2314_-2313insATATACATATACCTATACATATACATATACATAT ACCTACACCTATAC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2258		chr13	TogoVar
URAD_chr13_27972717_27993693	27990950	G G	GGTATAGG others(41): Show GGTATAGGTGTAGGTATATGTATATTTATATGTATAGGTATATGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02258.hp1 HG02723.hp2 others(8): Show HG01496.hp1 HG02258.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0049 a0001c0001t0002g0050 others(1): Show a0001c0001t0002g0017 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051	11	404	0.0272	48	c.-23 others(59): Show c.-2314_-2313insATATACATATACCTATACATATAAATATACATAT ACCTACACCTATAC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2258		chr13	TogoVar
URAD_chr13_27972717_27993693	27991211	A A	ATAGGTGT others(41): Show ATAGGTGTAGGTATAGGTATAGGTATATGTATATGTATATGTATAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	420	0.0024	48	c.-25 others(59): Show c.-2575_-2574insCACCTATACATATACATATACATATACCTATACC TATACCTACACCTA	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2519		chr13	TogoVar
URB1_chr21_32306018_32398012	32332522	C C	CAAAAAAA others(41): Show CAAAAAAAAAAAAAAAAAATCCCCAAACTCAAGTTAAAAAAACAAGACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(19): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG01099.hp1 HG01243.hp2 HG01891.hp2 HG02056.hp1 HG02145.hp1 HG02258.hp2 HG02523.hp1 HG02615.hp2 HG02698.hp2 HG02896.hp2 HG02922.hp1 HG03098.hp2 HG03491.hp1 HG03492.hp2 NA18968.hp1 NA18969.hp1 NA18987.hp2 NA19077.hp1 NA19086.hp2	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0010 a0026	a0001c0001 a0001c0002 a0001c0054 others(6): Show a0001c0001 a0001c0002 a0001c0054 a0002c0004 a0002c0005 a0008c0020 a0008c0059 a0010c0021 a0026c0052	a0001c0001t0001 a0001c0002t0003 a0001c0002t0021 others(10): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0021 a0001c0002t0035 a0001c0002t0037 a0001c0054t0018 a0002c0004t0002 a0002c0005t0002 a0002c0005t0007 a0008c0020t0018 a0008c0059t0003 a0010c0021t0002 a0026c0052t0002	a0001c0001t0001g0106 a0001c0001t0001g0119 a0001c0001t0001g0120 others(19): Show a0001c0001t0001g0106 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0133 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0002t0003g0310 a0001c0002t0021g0184 a0001c0002t0021g0209 a0001c0002t0035g0293 a0001c0002t0037g0301 a0001c0054t0018g0083 a0002c0004t0002g0243 a0002c0005t0002g0076 a0002c0005t0002g0246 a0002c0005t0007g0248 a0008c0020t0018g0084 a0008c0020t0018g0223 a0008c0059t0003g0091 a0010c0021t0002g0077 a0010c0021t0002g0294 a0026c0052t0002g0234	22	120	0.1833	48	c.496 others(65): Show c.4960+794_4960+795insTGTCTTGTTTTTTTAACTTGAGTTTGGG GATTTTTTTTTTTTTTTTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38			chr21	TogoVar
URB1_chr21_32306018_32398012	32332522	C C	CAAAAAAA others(41): Show CAAAAAAAAAAAAAAAAATCCCCAAACTCAAGTTAAAAAAACAAGACAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01943.hp1 HG01981.hp2 others(14): Show HG01081.hp2 HG01943.hp1 HG01981.hp2 HG02165.hp2 HG02257.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 NA18963.hp2 NA18993.hp2 NA19004.hp2 NA19057.hp1 NA19066.hp1 NA19067.hp1 NA19087.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0002 a0001c0010 others(6): Show a0001c0001 a0001c0002 a0001c0010 a0001c0040 a0001c0048 a0002c0004 a0002c0005 a0005c0006 a0007c0012	a0001c0001t0001 a0001c0002t0003 a0001c0010t0014 others(6): Show a0001c0001t0001 a0001c0002t0003 a0001c0010t0014 a0001c0040t0001 a0001c0048t0017 a0002c0004t0002 a0002c0005t0002 a0005c0006t0001 a0007c0012t0002	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 others(14): Show a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0002t0003g0219 a0001c0002t0003g0226 a0001c0010t0014g0270 a0001c0040t0001g0313 a0001c0048t0017g0075 a0002c0004t0002g0200 a0002c0005t0002g0237 a0005c0006t0001g0153 a0007c0012t0002g0275 a0007c0012t0002g0276 a0007c0012t0002g0277 a0007c0012t0002g0278	17	115	0.1478	48	c.496 others(65): Show c.4960+794_4960+795insTTGTCTTGTTTTTTTAACTTGAGTTTGG GGATTTTTTTTTTTTTTTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38			chr21	TogoVar
USH2A_chr1_215617891_216428448	215743386	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0060 a0060	a0060c0014 a0060c0014	a0060c0014t0003 a0060c0014t0003	a0060c0014t0003g0006 a0060c0014t0003g0006	1	24	0.0417	48	c.113 others(65): Show c.11390-52_11390-51insCACACACACACATATATATATATATATA TATATATATATATATATATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	58/71			chr1	TogoVar
USP38_chr4_143179917_143228874	143184836	A A	AGGCGGAG others(41): Show AGGCGGAGGGGCGGAGGGGCGGAGGGGCGGAGGGGCGGAGGGGCGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02970.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0123 a0001c0001t0003g0004 a0001c0001t0003g0123	3	125	0.0240	48	c.-61 others(57): Show c.-615_-614insGGCGGAGGGGCGGAGGGGCGGAGGGGCGGAGGGGCG GAGGGGCGGAGG	USP38	ENSG00000170185.11	transcript	ENST00000307017.9	protein_coding		80		chr4	TogoVar
USP50_chr15_50495562_50551666	50537886	G G	GGGAAGGG others(41): Show GGGAAGGGAGGGGAGGGGAGGGGAGGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	382	0.0026	48	c.803 others(63): Show c.803+822_803+823insTCCCTTCCCTTCCCTTCCCTTCCCCTCCCC TCCCCTCCCCTCCCTTCC	USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	5/6			chr15	TogoVar
UTRN_chr6_144280335_144858034	144732227	T T	TATACATA others(41): Show TATACATATATATATATACATATATATATATATACATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02559.hp2 HG02055.hp2 HG02257.hp2 HG02559.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0010 a0005c0014 a0001c0001 a0001c0010 a0005c0014	a0001c0001t0027 a0001c0010t0002 a0005c0014t0002 a0001c0001t0027 a0001c0010t0002 a0005c0014t0002	a0001c0001t0027g0095 a0001c0010t0002g0059 a0005c0014t0002g0014 a0001c0001t0027g0095 a0001c0010t0002g0059 a0005c0014t0002g0014	3	125	0.0240	48	c.793 others(67): Show c.7939+1744_7939+1745insCATATATATATATACATATATATATA TATACATATATATATATACATA	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	54/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTS2_chr1_7842612_7858065	7857100	A A	AAAGGAAG others(41): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	359	0.0028	48	c.-40 others(59): Show c.-4098_-4097insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTT	UTS2	ENSG00000049247.14	transcript	ENST00000361696.10	protein_coding		4036		chr1	TogoVar
UXT_chrX_47646796_47664180	47660105	C C	CCCTTCCT others(41): Show CCCTTCCTTCCTTCCTTCCGTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	188	0.0053	48	c.-10 others(59): Show c.-1001_-1000insAAGGAAGGAAGGAAGGAAGGAAGGAAGGACGGAA GGAAGGAAGGAAGG	UXT	ENSG00000126756.12	transcript	ENST00000333119.8	protein_coding		926		chrX	TogoVar
VAMP1_chr12_6457237_6475677	6465388	A A	ATATATAT others(41): Show ATATATATATAAATGTATATATATGTATATATATAAATGTATATATATG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0065 a0001c0001t0004g0065	1	414	0.0024	48	c.289 others(63): Show c.289-448_289-447insCATATATATACATTTATATATATACATATA TATACATTTATATATATA	VAMP1	ENSG00000139190.17	transcript	ENST00000396308.4	protein_coding	3/4			chr12	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(41): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	27	0.0370	48	c.205 others(65): Show c.205-6028_205-6027insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTT	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(41): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	27	0.0370	48	c.205 others(65): Show c.205-6017_205-5970dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6816536	G G	GACACACA others(41): Show GACACACACACATGCAGATACACACAGACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	271	0.0037	48	c.205 others(65): Show c.205-4155_205-4154insTGCAGATACACACAGACACACACACACA CACACACACACACACACACA	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV2_chr9_133756894_133997324	133827216	G G	GCTACCGC others(41): Show GCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0056 a0001c0006t0002g0056	1	186	0.0054	48	c.449 others(65): Show c.449+7055_449+7056insGTGGTGATGCCCGTGCTCAGTGGTCAGC CCCAGTGGGCGCAGCGGTAG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827250	C C	CACGGGCA others(41): Show CACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0052 a0002c0001t0002g0052	1	180	0.0056	48	c.449 others(65): Show c.449+7021_449+7022insACTCAGTGGTCAGCCTCAGTGGGCACAG CAGTAGCTGGCGATGCCCGT	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827298	T T	TGGGGGCA others(41): Show TGGGGGCATCGCCAGCTACCGCTGCGCCCACTGAGGCTGACCACTGAGC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0146 a0002c0005t0001g0146	1	141	0.0071	48	c.449 others(65): Show c.449+6973_449+6974insGCTCAGTGGTCAGCCTCAGTGGGCGCAG CGGTAGCTGGCGATGCCCCC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827300	G G	GGGGCATC others(41): Show GGGGCATCGCCAGCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0125 a0001c0004t0014g0126 a0001c0004t0014g0125 a0001c0004t0014g0126	2	124	0.0161	48	c.449 others(65): Show c.449+6971_449+6972insGTGCTCAGTGGTCAGCCTCAGTGGGCGC AGCGGTAGCTGGCGATGCCC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827552	G G	GCTACCGC others(41): Show GCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0081 a0001c0006t0002g0081	1	157	0.0064	48	c.449 others(65): Show c.449+6719_449+6720insGTGGTGATGCCCCCACTCAGTGGTCAGC CCCAGTGGGCGCAGCGGTAG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827692	G G	GCCAACTA others(41): Show GCCAACTACCGCTGTGCCCACTGAGGCTGACCACTGAGCACGGGCATCA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0192 a0001c0006t0009g0192	1	189	0.0053	48	c.449 others(65): Show c.449+6579_449+6580insTGATGCCCGTGCTCAGTGGTCAGCCTCA GTGGGCACAGCGGTAGTTGG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827696	G G	GCTACCGC others(41): Show GCTACCGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0146 a0002c0005t0001g0146	1	178	0.0056	48	c.449 others(65): Show c.449+6575_449+6576insGTGGTGATGCCCCCACTCAGTGGTCAGC CTCAGTGGGCACAGCGGTAG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827936	C C	CCTACCGC others(41): Show CCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0007 a0001c0012t0007	a0001c0012t0007g0080 a0001c0012t0007g0080	1	173	0.0058	48	c.449 others(65): Show c.449+6335_449+6336insCTGGCGATGCCCGTGCTCAGTGGTCAGC CCCAGTGGGCGCAGCGGTAG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828170	T T	TCACCACC others(41): Show TCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCAC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0057 a0001c0006t0002g0057	1	198	0.0051	48	c.449 others(65): Show c.449+6101_449+6102insGTGCCCGTGCTCAGTGGTCAGCCTCAGT GGGCGCAGCGGTAGGTGGTG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828186	T T	TGCCCACT others(41): Show TGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0007 a0001c0012t0007	a0001c0012t0007g0080 a0001c0012t0007g0080	1	178	0.0056	48	c.449 others(65): Show c.449+6085_449+6086insGCAGCGGTAGGTGGTGATGCCCGTGCTC AGTGGTCAGCCCCAGTGGGC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828229	C C	CGCTGCGC others(41): Show CGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0066 a0002c0025t0001g0066	1	141	0.0071	48	c.449 others(65): Show c.449+6042_449+6043insAGTAGCTGGCGATGCCCGTGCTCAGTGG TCAGCCCCAGTGGGCGCAGC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828339	G G	GGGCTGAC others(41): Show GGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02818.hp1 HG02257.hp2 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0017 a0001c0002t0012 a0001c0002t0017	a0001c0002t0012g0026 a0001c0002t0017g0044 a0001c0002t0012g0026 a0001c0002t0017g0044	2	179	0.0112	48	c.449 others(65): Show c.449+5932_449+5933insTCAGTGGGCGCAGCGGTAGCTGGCGATG CCCGTGCTCAGTGGTCAGCC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828356	C C	CGGGCATC others(41): Show CGGGCATCGCCAGCTACCGCTGTGCCCACTGAGGCTGACCACTGAGTGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0192 a0001c0006t0009g0192	1	193	0.0052	48	c.449 others(65): Show c.449+5915_449+5916insCCACTCAGTGGTCAGCCTCAGTGGGCAC AGCGGTAGCTGGCGATGCCC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828464	G G	GCTACCGC others(41): Show GCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0081 a0001c0006t0002g0081	1	153	0.0065	48	c.449 others(65): Show c.449+5807_449+5808insGTGGTGATGCCCCCACTCAGTGGTCAGC CCCAGTGGGCGCAGCGGTAG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828464	G G	GCTACCGC others(41): Show GCTACCGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02257.hp2 others(4): Show HG01891.hp2 HG02109.hp1 HG02257.hp2 HG02572.hp1 HG02818.hp1 NA18522.hp1 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0006 a0004c0018 a0001c0002 a0001c0006 a0004c0018	a0001c0002t0003 a0001c0002t0005 a0001c0002t0012 others(4): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0012 a0001c0002t0017 a0001c0006t0002 a0001c0006t0009 a0004c0018t0022	a0001c0002t0003g0181 a0001c0002t0005g0025 a0001c0002t0012g0026 others(4): Show a0001c0002t0003g0181 a0001c0002t0005g0025 a0001c0002t0012g0026 a0001c0002t0017g0044 a0001c0006t0002g0035 a0001c0006t0009g0192 a0004c0018t0022g0121	7	159	0.0440	48	c.449 others(65): Show c.449+5807_449+5808insGTGGTGATGCCCCCACTCAGTGGTCAGC CTCAGTGGGCACAGCGGTAG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VCL_chr10_73993116_74125169	74018181	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATAAATAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0188 a0001c0002t0004g0188	1	261	0.0038	48	c.168 others(67): Show c.168+19827_168+19828insTATATATATATATATATATATAAATA CATATATATATATATATATATA	VCL	ENSG00000035403.18	transcript	ENST00000211998.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
VCX2_chrX_8164944_8176267	8169372	C C	CCCTCCCT others(41): Show CCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0020 a0005c0005t0001g0020	1	110	0.0091	48	c.65 others(57): Show c.659_*660insAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		571		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533162	C C	CCCTCCCC others(41): Show CCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0003 a0015c0019t0003	a0015c0019t0003g0035 a0015c0019t0003g0035	1	69	0.0145	48	c.58 others(57): Show c.582_*583insAAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		455		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467067	A A	AGGGAGGG others(41): Show AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0007	1	260	0.0038	48	c.68 others(57): Show c.684_*685insGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		558		chrX	TogoVar
VEPH1_chr3_157254742_157508416	157304038	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0044 a0002c0003t0002g0044	1	119	0.0084	48	c.201 others(67): Show c.2010+9582_2010+9583insGTGTGTATATATATATATATATATAT ATATATATATATATATATATAT	VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	11/13			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11564662	A A	ATCCCTCA others(41): Show ATCCCTCACCACCTCCCTCCCTCACCACCTCCCTCCCTCACCACCGCCC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0379 a0001c0001t0002g0379	1	327	0.0031	48	c.495 others(62): Show c.495+87_495+134dupGGGCGGTGGTGAGGGAGGGAGGTGGTGAGGG AGGGAGGTGGTGAGGGA	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	3/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11564662	A A	ATCCCTCA others(41): Show ATCCCTCACCACCTCCCTCCCTCACCACCTCCCTCCCTCACCACCTCCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0221 a0001c0002t0002g0221	1	327	0.0031	48	c.495 others(63): Show c.495+134_495+135insGGGAGGTGGTGAGGGAGGGAGGTGGTGAGG GAGGGAGGTGGTGAGGGA	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	3/4			chr3	TogoVar
VIPR2_chr7_159023175_159149867	159119809	G G	GGATGCAC others(41): Show GGATGCACGAAGCCTGGTAGGTGGGGTCGGAAGAAACGCCTGTCCCCTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01255.hp1 HG02293.hp2 others(1): Show HG01106.hp2 HG01255.hp1 HG02293.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 others(1): Show a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0021g0296	4	334	0.0120	48	c.152 others(65): Show c.152-9891_152-9890insAAGGGGACAGGCGTTTCTTCCGACCCCA CCTACCAGGCTTCGTGCATC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar

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