Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTAT others(27): Show CTCTCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0013 a0001c0021t0013	a0001c0021t0013g0038 a0001c0021t0013g0038	1	158	0.0063	34	c.493 others(55): Show c.4934-39402_4934-39401insCTCTATATATATATATATATATAT ATATATATAT	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(27): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0152 a0001c0001t0007g0152	1	158	0.0063	34	c.493 others(55): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTATATAT ATATATATAT	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(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0046 a0001c0029t0046	a0001c0029t0046g0143 a0001c0029t0046g0143	1	158	0.0063	34	c.493 others(55): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54553247	T T	TATATTAT others(27): Show TATATTATATATTGTATTCTATATTACAATATAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG03195.hp2 HG01891.hp2 HG02055.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0025 a0001c0001t0045 a0001c0001t0011 a0001c0001t0025 a0001c0001t0045	a0001c0001t0011g0069 a0001c0001t0025g0004 a0001c0001t0045g0130 a0001c0001t0011g0069 a0001c0001t0025g0004 a0001c0001t0045g0130	3	158	0.0190	34	c.587 others(53): Show c.5878-2139_5878-2106dupTGTATTCTATATTACAATATAGAATA TTATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5A_chr5_176805559_176885898	176806019	A A	AGGAAGGA others(27): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	268	0.0037	34	c.-47 others(45): Show c.-4732_-4731insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding		4539		chr5	TogoVar
UNC5A_chr5_176805559_176885898	176806985	A A	AACCCCTT others(27): Show AACCCCTTCAGGAGATGCCTTCAGGAAGCAGCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	268	0.0037	34	c.-37 others(45): Show c.-3766_-3765insACCCCTTCAGGAGATGCCTTCAGGAAGCAGCCTC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding		3573		chr5	TogoVar
UNC5A_chr5_176805559_176885898	176870984	G G	GCTCGCCC others(27): Show GCTCGCCCCACACCACAGCTTCCCATCTGCCCACA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0232 a0001c0004t0002g0232	1	268	0.0037	34	c.886 others(49): Show c.886+586_886+619dupACTCGCCCCACACCACAGCTTCCCATCTGC CCAC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176871567	A A	AACACCAC others(27): Show AACACCACAGCTTCACATCTGCCCACACTCACCCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0239 a0001c0001t0006g0239	1	268	0.0037	34	c.886 others(51): Show c.886+1046_886+1047insACATCTGCCCACACTCACCCCACACCAC AGCTTC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176873199	A A	AACACCAC others(27): Show AACACCACAGCTTCCCATCTGCCCACACTCACCCC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	268	0.0037	34	c.887 others(49): Show c.887-747_887-746insCACACTCACCCCACACCACAGCTTCCCATC TGCC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5C_chr4_95157504_95553973	95256699	A A	AATATATA others(27): Show AATATATATATATATATAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0077 a0001c0005t0001g0077	1	204	0.0049	34	c.595 others(51): Show c.595-6033_595-6032insATATATATATATATATTTATATATATAT ATATAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
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	204	0.0049	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	64	0.0156	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	334	0.0030	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	334	0.0030	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 a0003c0005t0002g0162 a0003c0005t0002g0165 a0003c0005t0002g0004 a0003c0005t0002g0162 a0003c0005t0002g0165	3	420	0.0071	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 a0001c0001t0002g0058 a0001c0001t0002g0220 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0058 a0001c0001t0002g0220 a0001c0001t0002g0230	5	420	0.0119	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	a0001c0001t0001g0077 a0001c0001t0001g0096 a0001c0001t0001g0100 others(1): Show a0001c0001t0001g0077 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0104	4	140	0.0286	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 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0126 a0002c0002t0001g0016 a0001c0001t0005g0126 a0002c0002t0001g0016	2	182	0.0110	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	a0001c0001t0001g0068 a0001c0001t0001g0068	1	257	0.0039	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	a0001c0001t0002g0040 a0001c0001t0002g0040	1	257	0.0039	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	a0001c0002t0001g0220 a0001c0002t0001g0220	1	380	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	a0001c0002t0001g0022 a0001c0002t0001g0022	2	380	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	a0011 a0011	a0011c0026 a0011c0026	a0011c0026t0002 a0011c0026t0002	a0011c0026t0002g0147 a0011c0026t0002g0147	1	380	0.0026	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	a0001c0004t0003g0038 a0001c0004t0003g0038	1	380	0.0026	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	a0069 a0069	a0069c0024 a0069c0024	a0069c0024t0005 a0069c0024t0005	a0069c0024t0005g0039 a0069c0024t0005g0039	1	74	0.0135	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	a0018 a0020 a0043 others(2): Show a0018 a0020 a0043 a0052 a0070	a0018c0058 a0020c0057 a0043c0021 others(2): Show a0018c0058 a0020c0057 a0043c0021 a0052c0038 a0070c0026	a0018c0058t0001 a0020c0057t0001 a0043c0021t0005 others(2): Show a0018c0058t0001 a0020c0057t0001 a0043c0021t0005 a0052c0038t0001 a0070c0026t0001	a0018c0058t0001g0068 a0020c0057t0001g0064 a0043c0021t0005g0003 others(2): Show a0018c0058t0001g0068 a0020c0057t0001g0064 a0043c0021t0005g0003 a0052c0038t0001g0044 a0070c0026t0001g0038	5	74	0.0676	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	a0028 a0028	a0028c0022 a0028c0022	a0028c0022t0001 a0028c0022t0001	a0028c0022t0001g0002 a0028c0022t0001g0002	1	74	0.0135	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	300	0.0033	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	300	0.0033	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	a0002c0003t0007g0236 a0002c0003t0007g0236	1	252	0.0040	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	a0001c0002t0002g0060 a0001c0002t0002g0060	1	252	0.0040	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	a0001c0002t0002g0049 a0001c0002t0002g0049	1	252	0.0040	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	a0001c0004t0004g0049 a0001c0004t0004g0049	1	396	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	a0001c0001t0001g0032 a0001c0001t0001g0032	1	152	0.0066	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	312	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	a0009c0010t0001g0249 a0009c0010t0001g0253 a0009c0010t0001g0254 a0009c0010t0001g0249 a0009c0010t0001g0253 a0009c0010t0001g0254	3	386	0.0078	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	282	0.0036	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 a0001c0001t0047 a0001c0001t0005 a0001c0001t0006 a0001c0001t0047	a0001c0001t0005g0124 a0001c0001t0005g0129 a0001c0001t0005g0130 others(3): Show a0001c0001t0005g0124 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0006g0125 a0001c0001t0006g0221 a0001c0001t0047g0135	6	234	0.0256	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	a0001c0001t0001g0264 a0002c0002t0001g0194 a0001c0001t0001g0264 a0002c0002t0001g0194	2	324	0.0062	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	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0378 a0004c0008t0001g0378	1	406	0.0025	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	380	0.0026	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	380	0.0026	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 a0008 a0001 a0008	a0001c0001 a0008c0014 a0001c0001 a0008c0014	a0001c0001t0016 a0001c0001t0038 a0008c0014t0016 a0001c0001t0016 a0001c0001t0038 a0008c0014t0016	a0001c0001t0016g0217 a0001c0001t0016g0219 a0001c0001t0016g0221 others(2): Show a0001c0001t0016g0217 a0001c0001t0016g0219 a0001c0001t0016g0221 a0001c0001t0038g0220 a0008c0014t0016g0218	5	380	0.0132	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	380	0.0105	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	380	0.0053	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	380	0.0553	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	380	0.0026	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	a0001c0001t0046g0029 a0001c0001t0046g0029	1	362	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	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	338	0.0030	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	a0001c0001t0001g0201 a0001c0001t0001g0201	1	293	0.0034	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

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