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
UNC5C_chr4_95157504_95553973	95354468	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0049 a0001c0014t0001g0049	1	165	0.0061	34	c.125 others(53): Show c.125-18838_125-18837insATATATATATATATATATATATATAT ATATATAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35247963	T T	TTATATAT others(27): Show TTATATATAAAATATATATAATATATAAATAAATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0045 a0001c0002t0008g0045	1	61	0.0164	34	c.103 others(53): Show c.103+12078_103+12111dupATATATAAAATATATATAATATATAA ATAAATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UPF2_chr10_11915022_12047809	11938853	G G	GTTTTTGT others(27): Show GTTTTTGTTTTTGTTTTTTTTTTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	63	0.0159	34	c.337 others(53): Show c.3379-2142_3379-2141insAAAAAAAAACAAAAAAAAAAAACAAA AACAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	11938853	G G	GTTTTTGT others(27): Show GTTTTTGTTTTTTTTTTTTTTTTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	63	0.0159	34	c.337 others(53): Show c.3379-2142_3379-2141insAAAAAAAAACAAAAAAAAAAAAAAAA AACAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPK1A_chr19_35661517_35683481	35680685	A A	AATAAATA others(27): Show AATAAATAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02056.hp1 NA18979.hp2 HG02015.hp1 HG02056.hp1 NA18979.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0004 a0003c0005t0002g0156 a0003c0005t0002g0159 a0003c0005t0002g0004 a0003c0005t0002g0156 a0003c0005t0002g0159	3	394	0.0076	34	c.26 others(45): Show c.2666_*2667insATAAATAAATATATATATATATATATATATATAT	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		2205		chr19	TogoVar
UPK1A_chr19_35661517_35683481	35682244	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02132.hp1 NA18947.hp2 others(2): Show HG01109.hp2 HG02132.hp1 NA18947.hp2 NA19012.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0057 a0001c0001t0002g0215 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0057 a0001c0001t0002g0215 a0001c0001t0002g0225	5	165	0.0303	34	c.42 others(45): Show c.4225_*4226insATATATATATATATATATATATATATATATATAT	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		3764		chr19	TogoVar
UPK3BL1_chr7_102632025_102647791	102646940	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01168.hp2 HG01361.hp1 others(1): Show HG01074.hp2 HG01168.hp2 HG01361.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0071 a0001c0001t0001g0088 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0071 a0001c0001t0001g0088 a0001c0001t0001g0091	4	121	0.0331	34	c.-42 others(45): Show c.-4200_-4199insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		4150		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547832	G G	GAAAAAGA others(27): Show GAAAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG03209.hp1 HG01515.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0003 a0001c0001t0001g0002 a0001c0001t0002g0003	2	31	0.0645	34	c.-41 others(45): Show c.-4197_-4196insTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTTT	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4137		chr7	TogoVar
UPRT_chrX_75269085_75309885	75272319	T T	TATATATA others(27): Show TATATATACACATATATATGTATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	32	0.0313	34	c.-19 others(45): Show c.-1936_-1935insATATATACACATATATATGTATATATATATATAC	UPRT	ENSG00000094841.14	transcript	ENST00000373383.9	protein_coding		1765		chrX	TogoVar
UPRT_chrX_75269085_75309885	75272336	A A	ATATATAT others(27): Show ATATATATGTATATATATATACACATATATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	244	0.0041	34	c.-19 others(45): Show c.-1919_-1918insTATATATGTATATATATATACACATATATATGTG	UPRT	ENSG00000094841.14	transcript	ENST00000373383.9	protein_coding		1748		chrX	TogoVar
UROC1_chr3_126476166_126522773	126509568	G G	GTTTCCCT others(27): Show GTTTCCCTGGCTATTACCTGGGCCACGGCAGGATC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0287 a0001c0002t0001g0287	1	378	0.0026	34	c.334 others(44): Show c.334_351+16dupGATCCTGCCGTGGCCCAGGTAATAGCCAGGGAAA	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	3/19			chr3	TogoVar
UROC1_chr3_126476166_126522773	126515762	C C	CCCCAGTG others(27): Show CCCCAGTGCCCACCACCTACCCTCCCCCTCATCTG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19074.hp2 NA19066.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	2	378	0.0053	34	c.126 others(51): Show c.126+1831_126+1832insCAGATGAGGGGGAGGGTAGGTGGTGGGC ACTGGG	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19			chr3	TogoVar
UROC1_chr3_126476166_126522773	126516199	C C	CCCCCAGC others(27): Show CCCCCAGCGCCCACCACCTACCCACCCCCTCATCA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0012 a0012	a0012c0026 a0012c0026	a0012c0026t0002 a0012c0026t0002	a0012c0026t0002g0150 a0012c0026t0002g0150	1	377	0.0027	34	c.126 others(51): Show c.126+1394_126+1395insTGATGAGGGGGTGGGTAGGTGGTGGGCG CTGGGG	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19			chr3	TogoVar
UROC1_chr3_126476166_126522773	126516199	C C	CCCCCAGT others(27): Show CCCCCAGTGCCCACCACCTACCCATCCCCTTGTCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0040 a0001c0004t0003g0040	1	377	0.0027	34	c.126 others(51): Show c.126+1394_126+1395insTGACAAGGGGATGGGTAGGTGGTGGGCA CTGGGG	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19			chr3	TogoVar
USH2A_chr1_215617891_216428448	215743386	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0067 a0067	a0067c0024 a0067c0024	a0067c0024t0005 a0067c0024t0005	a0067c0024t0005g0040 a0067c0024t0005g0040	1	24	0.0417	34	c.113 others(51): Show c.11390-52_11390-51insCACATATATATATATATATATATATATA TATATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	58/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	215836498	A A	ATATAATA others(27): Show ATATAATATATATATATTATATATATATATAATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp1 HG02451.hp2 others(2): Show HG01109.hp2 HG02257.hp1 HG02451.hp2 HG02572.hp1 HG03540.hp2	a0012 a0019 a0022 others(2): Show a0012 a0019 a0022 a0025 a0057	a0012c0021 a0019c0058 a0022c0057 others(2): Show a0012c0021 a0019c0058 a0022c0057 a0025c0026 a0057c0038	a0012c0021t0005 a0019c0058t0001 a0022c0057t0001 others(2): Show a0012c0021t0005 a0019c0058t0001 a0022c0057t0001 a0025c0026t0001 a0057c0038t0001	a0012c0021t0005g0003 a0019c0058t0001g0068 a0022c0057t0001g0064 others(2): Show a0012c0021t0005g0003 a0019c0058t0001g0068 a0022c0057t0001g0064 a0025c0026t0001g0038 a0057c0038t0001g0044	5	52	0.0962	34	c.937 others(53): Show c.9371+1492_9371+1493insATATTATATATATATATAATATATAT ATATTATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	47/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	215836498	A A	ATATAATA others(27): Show ATATAATATATATTATATATATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0038 a0038	a0038c0022 a0038c0022	a0038c0022t0001 a0038c0022t0001	a0038c0022t0001g0002 a0038c0022t0001g0002	1	48	0.0208	34	c.937 others(53): Show c.9371+1492_9371+1493insATATATATTATATATATATATAATAT ATATTATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	47/71			chr1	TogoVar
USP13_chr3_179648040_179794401	179687659	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0228 a0001c0001t0006g0228	1	24	0.0417	34	c.295 others(51): Show c.295-2556_295-2555insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP13_chr3_179648040_179794401	179750326	G G	GTGTGTGT others(27): Show GTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	191	0.0052	34	c.171 others(53): Show c.1710-1958_1710-1957insGTGTGTATATATATATATATATATAT ATATATAT	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0227 a0002c0003t0007g0227	1	43	0.0233	34	c.-77 others(53): Show c.-77+25840_-77+25841insAATATATATATATATATATATATATA TATATATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	43	0.0233	34	c.-77 others(53): Show c.-77+25840_-77+25841insAAAAAATATATATATATATATATATA TATATATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0050 a0001c0002t0002g0050	1	43	0.0233	34	c.-77 others(53): Show c.-77+25840_-77+25841insAAAAAAAAAATATATATATATATATA TATATATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP30_chr12_109047576_109093023	109088742	T T	TCTCGCTC others(27): Show TCTCGCTCTGTCACCCAGGCTGAAGTGCAGTGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0059 a0001c0004t0004g0059	1	394	0.0025	34	c.28 others(45): Show c.2811_*2812insCTCGCTCTGTCACCCAGGCTGAAGTGCAGTGGCA	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding		720		chr12	TogoVar
USP32_chr17_60172327_60397133	60368991	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	82	0.0122	34	c.58+ others(51): Show c.58+22890_58+22891insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	USP32	ENSG00000170832.13	transcript	ENST00000300896.9	protein_coding	1/33			chr17	TogoVar
USP34_chr2_61182463_61476087	61352818	T T	TGAAGAAA others(27): Show TGAAGAAACAAAGATGACGAAGAAACAAAGATGAC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0008 a0001c0002t0007g0008	1	310	0.0032	34	c.125 others(53): Show c.1252-2126_1252-2125insGTCATCTTTGTTTCTTCGTCATCTTT GTTTCTTC	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding	10/79			chr2	TogoVar
USP36_chr17_78790652_78845814	78834997	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG06807.hp1 HG01243.hp1 HG02486.hp1 HG06807.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0244 a0009c0010t0001g0248 a0009c0010t0001g0249 a0009c0010t0001g0244 a0009c0010t0001g0248 a0009c0010t0001g0249	3	72	0.0417	34	c.475 others(49): Show c.475+282_475+283insTATATATATATATATATATATATATATATA TACA	USP36	ENSG00000055483.20	transcript	ENST00000449938.7	protein_coding	4/20			chr17	TogoVar
USP37_chr2_218445251_218573351	218544430	T T	TATATATA others(27): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0154 a0001c0003t0017g0154	1	53	0.0189	34	c.680 others(51): Show c.680+1790_680+1791insCTCTCTCTCTCTCTCTCTCTCTATATAT ATATAT	USP37	ENSG00000135913.11	transcript	ENST00000258399.8	protein_coding	8/25			chr2	TogoVar
USP3_chr15_63499593_63599633	63580641	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01516.hp1 others(3): Show HG00280.hp1 HG00323.hp1 HG01516.hp1 HG02109.hp2 HG02965.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0046 a0001c0001t0005 a0001c0001t0006 a0001c0001t0046	a0001c0001t0005g0008 a0001c0001t0005g0124 a0001c0001t0006g0125 others(2): Show a0001c0001t0005g0008 a0001c0001t0005g0124 a0001c0001t0006g0125 a0001c0001t0006g0209 a0001c0001t0046g0133	6	209	0.0287	34	c.109 others(53): Show c.1096+6248_1096+6249insATATATATATATATATATATATATAT ATATATAT	USP3	ENSG00000140455.17	transcript	ENST00000380324.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
USP40_chr2_233470526_233571782	233494915	C C	CATTTATA others(27): Show CATTTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18989.hp2 HG02293.hp1 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0262 a0002c0002t0001g0188 a0001c0001t0001g0262 a0002c0002t0001g0188	2	151	0.0132	34	c.279 others(53): Show c.2791-1365_2791-1364insATATATATATATATATATATATATAT ATATAAAT	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding	24/31			chr2	TogoVar
USP45_chr6_99427325_99520423	99473777	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0369 a0005c0008t0001g0369	1	13	0.0769	34	c.933 others(51): Show c.933+2365_933+2366insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	USP45	ENSG00000123552.18	transcript	ENST00000500704.7	protein_coding	9/17			chr6	TogoVar
USP53_chr4_119207713_119300518	119213641	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0033 a0001c0001t0010g0033	1	280	0.0036	34	c.-94 others(51): Show c.-941-409_-941-408insATATATATATATATATATATATATATAT ATATAT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0034 a0001c0001t0010g0034	1	232	0.0043	34	c.-94 others(51): Show c.-941-409_-941-408insATATATATATATATATATATATATATAT ATATGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(27): Show ATATATATATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp2 HG02897.hp2 others(2): Show HG02622.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 NA19043.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0014 a0001c0001 a0009c0014	a0001c0001t0016 a0001c0001t0038 a0009c0014t0016 a0001c0001t0016 a0001c0001t0038 a0009c0014t0016	a0001c0001t0016g0217 a0001c0001t0016g0219 a0001c0001t0016g0221 others(2): Show a0001c0001t0016g0217 a0001c0001t0016g0219 a0001c0001t0016g0221 a0001c0001t0038g0220 a0009c0014t0016g0218	5	236	0.0212	34	c.-94 others(51): Show c.-941-409_-941-408insATATATATATATATGTGTGTGTGTGTGT GTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(27): Show ATATATATATATATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03041.hp2 others(1): Show HG02896.hp2 HG02897.hp1 HG03041.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0020 a0001c0001t0009g0226 a0001c0001t0009g0227 a0001c0001t0009g0020 a0001c0001t0009g0226 a0001c0001t0009g0227	4	235	0.0170	34	c.-94 others(51): Show c.-941-409_-941-408insATATATATATATGTGTGTGTGTGTGTGT GTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(27): Show ATATATATATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18964.hp1 HG02027.hp1 NA18964.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0237 a0001c0003t0004g0238 a0001c0003t0004g0237 a0001c0003t0004g0238	2	233	0.0086	34	c.-94 others(51): Show c.-941-409_-941-408insATATATATATGTGTGTGTGTGTGTGTGT GTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(27): Show ATATATATATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00735.hp1 HG00738.hp2 others(18): Show HG00408.hp2 HG00735.hp1 HG00738.hp2 HG01106.hp1 HG01167.hp1 HG01978.hp2 HG02083.hp2 HG02109.hp2 HG03492.hp1 HG03669.hp2 HG03688.hp2 HG04204.hp1 NA18967.hp2 NA18978.hp2 NA18982.hp1 NA18985.hp2 NA18990.hp2 NA18993.hp2 NA19004.hp2 NA19011.hp1 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0019 a0001c0021 others(1): Show a0001c0003 a0001c0019 a0001c0021 a0002c0002	a0001c0003t0003 a0001c0003t0041 a0001c0019t0003 others(2): Show a0001c0003t0003 a0001c0003t0041 a0001c0019t0003 a0001c0021t0037 a0002c0002t0014	a0001c0003t0003g0021 a0001c0003t0003g0028 a0001c0003t0003g0029 others(17): Show a0001c0003t0003g0021 a0001c0003t0003g0028 a0001c0003t0003g0029 a0001c0003t0003g0030 a0001c0003t0003g0259 a0001c0003t0003g0261 a0001c0003t0003g0262 a0001c0003t0003g0263 a0001c0003t0003g0264 a0001c0003t0003g0265 a0001c0003t0003g0266 a0001c0003t0003g0268 a0001c0003t0003g0269 a0001c0003t0003g0270 a0001c0003t0003g0271 a0001c0003t0003g0273 a0001c0003t0041g0260 a0001c0019t0003g0272 a0001c0021t0037g0274 a0002c0002t0014g0267	21	252	0.0833	34	c.-94 others(51): Show c.-941-409_-941-408insATATATATGTGTGTGTGTGTGTGTGTGT GTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(27): Show ATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0293 a0001c0003t0003g0293	1	232	0.0043	34	c.-94 others(51): Show c.-941-409_-941-408insATATATGTGTGTGTGTGTGTGTGTGTGT GTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP6_chr17_5111032_5179991	5116259	G G	GCCACTCC others(27): Show GCCACTCCCGGCCCCGCTCCGGGCGGCCCCCCTCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0048 a0001c0001t0046g0048	1	351	0.0028	34	c.-23 others(45): Show c.-2389_-2356dupGGGCGGCCCCCCTCACCACTCCCGGCCCCGCTCC	USP6	ENSG00000129204.17	transcript	ENST00000574788.6	protein_coding	1/38	14055	INFO_REALIGN_3_PRIME	chr17	TogoVar
USP7_chr16_8887097_8968906	8897726	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	27	0.0370	34	c.271 others(51): Show c.2719-628_2719-627insATATATATATATATTTTTTTTTTTTTTT TTTTTT	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30			chr16	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACACAC others(27): Show ACACACACACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	64	0.0156	34	c.96+ others(49): Show c.96+1961_96+1962insACACACACACACACACACACTCTCTCTCTC TCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
UST_chr6_148742030_149081990	148871117	C C	CCTCTCTC others(27): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	9	0.1111	34	c.248 others(53): Show c.248-15840_248-15839insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTP11_chr1_38007734_38029820	38012048	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	143	0.0070	34	c.-75 others(43): Show c.-755_-754insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UTP11	ENSG00000183520.12	transcript	ENST00000373014.5	protein_coding		685		chr1	TogoVar
UTP20_chr12_101275105_101391618	101310577	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0038 a0004c0009t0001g0038	1	89	0.0112	34	c.223 others(51): Show c.2231+759_2231+760insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTP6_chr17_31855904_31906708	31859356	C C	CGGGGGCG others(27): Show CGGGGGCGGGGCGGCGCAGGGGGCGGGGCGGCGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00735.hp1 others(14): Show HG00323.hp2 HG00642.hp1 HG00735.hp1 HG00741.hp2 HG01346.hp2 HG02015.hp1 HG02056.hp2 HG02273.hp1 HG02698.hp2 NA18950.hp1 NA18970.hp1 NA18973.hp2 NA18986.hp2 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0016 a0002c0002t0001 a0001c0001t0001 a0001c0001t0016 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0052 a0001c0001t0001g0058 others(14): Show a0001c0001t0001g0004 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0016g0076 a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0118 a0002c0002t0001g0167 a0002c0002t0001g0191	17	135	0.1259	34	c.40 others(45): Show c.4002_*4003insTGCGCCGCCCCGCCCCCTGCGCCGCCCCGCCCCC	UTP6	ENSG00000108651.10	transcript	ENST00000261708.9	protein_coding		1547		chr17	TogoVar
UTRN_chr6_144280335_144858034	144690074	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0107 a0003c0004t0003g0107	1	66	0.0152	34	c.765 others(53): Show c.7653-9991_7653-9990insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	52/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTY_chrY_13243385_13485033	13311594	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	123	0.0081	34	c.327 others(53): Show c.3277-5345_3277-5344insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	UTY	ENSG00000183878.16	transcript	ENST00000545955.6	protein_coding	21/29			chrY	TogoVar
UVRAG_chr11_75810210_76149232	75949740	T T	TATATATA others(27): Show TATATATATACACACATATGTATACATATATACAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0121 a0001c0001t0033g0121	1	144	0.0069	34	c.594 others(53): Show c.594-11688_594-11655dupTATGTATACATATATACACATATATA TACACACA	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	76053308	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0005	1	94	0.0106	34	c.122 others(55): Show c.1227-12400_1227-12367dupCACACACACACACACACACACACA CACACACACA	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
VAMP1_chr12_6457237_6475677	6461273	G G	GCCTCTGC others(27): Show GCCTCTGCCTTCCTTCACTGTGCACCCTGGGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	444	0.0023	34	c.31 others(45): Show c.3163_*3196dupTGAGCCCAGGGTGCACAGTGAAGGAAGGCAGAGG	VAMP1	ENSG00000139190.17	transcript	ENST00000396308.4	protein_coding		963		chr12	TogoVar
VASP_chr19_45502479_45531983	45513468	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA19090.hp2 NA18965.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0206 a0001c0002t0001g0103 a0001c0002t0001g0206	2	146	0.0137	34	c.6-4 others(47): Show c.6-4174_6-4173insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	VASP	ENSG00000125753.15	transcript	ENST00000245932.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar

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