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
UPK1A_chr19_35661517_35683481	35682268	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	420	0.0024	36	c.42 others(47): Show c.4249_*4250insATATATATATATATATATATATATATATATATAT AA	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		3788		chr19	TogoVar
UPK3BL2_chr7_102532919_102548696	102547829	A A	AGAGAAAG others(29): Show AGAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG03239.hp2 HG00438.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0008 a0001c0001t0013	a0001c0001t0008g0023 a0001c0001t0013g0024 a0001c0001t0008g0023 a0001c0001t0013g0024	2	182	0.0110	36	c.-41 others(47): Show c.-4194_-4193insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTC TC	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4134		chr7	TogoVar
UPRT_chrX_75269085_75309885	75272336	A A	ATATATAT others(29): Show ATATATATATGTATATATATATACACATATATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02886.hp2 HG03942.hp1 others(4): Show HG01243.hp1 HG02886.hp2 HG03942.hp1 HG04115.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0033 others(4): Show a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0004g0041	7	257	0.0272	36	c.-19 others(47): Show c.-1919_-1918insTATATATATGTATATATATATACACATATATATG TG	UPRT	ENSG00000094841.14	transcript	ENST00000373383.9	protein_coding		1748		chrX	TogoVar
URAD_chr13_27972717_27993693	27990944	G G	GGTATAGG others(29): Show GGTATAGGTATAGGTGTAGGTATATGTATATGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03453.hp1 NA18906.hp1 others(1): Show HG01243.hp2 HG03453.hp1 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0055 a0001c0001t0002g0137 a0001c0001t0002g0023 a0001c0001t0002g0055 a0001c0001t0002g0137	4	428	0.0094	36	c.-23 others(47): Show c.-2308_-2307insATATACATATACATATACCTACACCTATACCTAT AC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2252		chr13	TogoVar
URAD_chr13_27972717_27993693	27991121	A A	ATAGGTAT others(29): Show ATAGGTATAGGTATAGGTATATGTATATGTATAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 NA18906.hp1 HG02109.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	2	428	0.0047	36	c.-24 others(47): Show c.-2485_-2484insCACCTATACATATACATATACCTATACCTATACC TA	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2429		chr13	TogoVar
URAD_chr13_27972717_27993693	27991154	T T	TGTATAGG others(29): Show TGTATAGGTGTAGGTATAGGTATAGGTATAGGTATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0133 a0001c0005t0002g0133	1	428	0.0023	36	c.-25 others(47): Show c.-2518_-2517insCTATACCTATACCTATACCTATACCTACACCTAT AC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2462		chr13	TogoVar
URAD_chr13_27972717_27993693	27991334	G G	GTTATAGG others(29): Show GTTATAGGTATAGGTATAGGTATATGTATAGGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01358.hp2 HG03453.hp1 HG01243.hp2 HG01358.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0137 a0001c0001t0002g0023 a0001c0001t0002g0137	3	428	0.0070	36	c.-26 others(47): Show c.-2698_-2697insATATACCTATACATATACCTATACCTATACCTAT AA	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2642		chr13	TogoVar
URB1_chr21_32306018_32398012	32361159	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18981.hp1 HG02922.hp1 NA18981.hp1	a0001 a0004 a0001 a0004	a0001c0054 a0004c0007 a0001c0054 a0004c0007	a0001c0054t0018 a0004c0007t0005 a0001c0054t0018 a0004c0007t0005	a0001c0054t0018g0079 a0004c0007t0005g0207 a0001c0054t0018g0079 a0004c0007t0005g0207	2	338	0.0059	36	c.164 others(51): Show c.1640-72_1640-37dupCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	12/38			chr21	TogoVar
USF2_chr19_35263962_35284821	35280541	A A	AGGGGGGG others(29): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0114 a0003c0003t0003g0114	1	426	0.0024	36	c.12 others(47): Show c.1285_*1286insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GG	USF2	ENSG00000105698.16	transcript	ENST00000222305.8	protein_coding		721		chr19	TogoVar
USH2A_chr1_215617891_216428448	215743386	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0063 a0063	a0063c0042 a0063c0042	a0063c0042t0001 a0063c0042t0001	a0063c0042t0001g0030 a0063c0042t0001g0030	1	74	0.0135	36	c.113 others(53): Show c.11390-52_11390-51insCACATATATATATATATATATATATATA TATATATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	58/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	215743386	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0049 a0049	a0049c0045 a0049c0045	a0049c0045t0006 a0049c0045t0006	a0049c0045t0006g0028 a0049c0045t0006g0028	1	74	0.0135	36	c.113 others(53): Show c.11390-52_11390-51insCACACACATATATATATATATATATATA TATATATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	58/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	215743386	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0067 a0067	a0067c0013 a0067c0013	a0067c0013t0001 a0067c0013t0001	a0067c0013t0001g0023 a0067c0013t0001g0023	1	74	0.0135	36	c.113 others(53): Show c.11390-52_11390-51insCACACACACATATATATATATATATATA TATATATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	58/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216029992	T T	TAGATATA others(29): Show TAGATATATAATATATGATATATATGATATATATCAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01069.hp2 others(20): Show HG00140.hp1 HG00140.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG02004.hp2 HG02055.hp2 HG02451.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02896.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0010 others(20): Show a0001 a0006 a0010 a0014 a0017 a0019 a0020 a0021 a0024 a0025 a0026 a0030 a0031 a0039 a0040 a0043 a0046 a0056 a0058 a0060 a0061 a0066 a0068	a0001c0071 a0006c0051 a0010c0065 others(20): Show a0001c0071 a0006c0051 a0010c0065 a0014c0068 a0017c0069 a0019c0067 a0020c0057 a0021c0070 a0024c0063 a0025c0073 a0026c0041 a0030c0033 a0031c0034 a0039c0029 a0040c0046 a0043c0021 a0046c0040 a0056c0012 a0058c0011 a0060c0037 a0061c0036 a0066c0027 a0068c0025	a0001c0071t0001 a0006c0051t0001 a0010c0065t0004 others(20): Show a0001c0071t0001 a0006c0051t0001 a0010c0065t0004 a0014c0068t0001 a0017c0069t0001 a0019c0067t0001 a0020c0057t0001 a0021c0070t0001 a0024c0063t0001 a0025c0073t0001 a0026c0041t0004 a0030c0033t0001 a0031c0034t0003 a0039c0029t0007 a0040c0046t0004 a0043c0021t0005 a0046c0040t0001 a0056c0012t0002 a0058c0011t0001 a0060c0037t0001 a0061c0036t0001 a0066c0027t0002 a0068c0025t0001	a0001c0071t0001g0058 a0006c0051t0001g0065 a0010c0065t0004g0074 others(20): Show a0001c0071t0001g0058 a0006c0051t0001g0065 a0010c0065t0004g0074 a0014c0068t0001g0053 a0017c0069t0001g0057 a0019c0067t0001g0055 a0020c0057t0001g0064 a0021c0070t0001g0052 a0024c0063t0001g0056 a0025c0073t0001g0054 a0026c0041t0004g0026 a0030c0033t0001g0037 a0031c0034t0003g0045 a0039c0029t0007g0043 a0040c0046t0004g0016 a0043c0021t0005g0003 a0046c0040t0001g0034 a0056c0012t0002g0005 a0058c0011t0001g0046 a0060c0037t0001g0033 a0061c0036t0001g0027 a0066c0027t0002g0042 a0068c0025t0001g0040	23	74	0.3108	36	c.632 others(57): Show c.6325+16403_6325+16438dupGTGATATATATCATATATATCATA TATTATATATCT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	32/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216394720	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0011 a0011	a0011c0056 a0011c0056	a0011c0056t0005 a0011c0056t0005	a0011c0056t0005g0070 a0011c0056t0005g0070	1	74	0.0135	36	c.651 others(55): Show c.651+23793_651+23794insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	3/71			chr1	TogoVar
USP10_chr16_84695000_84784922	84720576	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 NA18947.hp2 HG00280.hp2 HG00621.hp1 NA18947.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0083 a0002c0001t0001g0215 a0002c0001t0001g0385 a0002c0001t0001g0083 a0002c0001t0001g0215 a0002c0001t0001g0385	3	430	0.0070	36	c.22- others(53): Show c.22-12836_22-12835insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
USP13_chr3_179648040_179794401	179687659	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp2 NA18612.hp1 NA18612.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0011 a0004c0013t0001 a0001c0001t0011 a0004c0013t0001	a0001c0001t0011g0223 a0004c0013t0001g0010 a0001c0001t0011g0223 a0004c0013t0001g0010	2	300	0.0067	36	c.295 others(53): Show c.295-2556_295-2555insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP20_chr9_129830458_129886828	129846247	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0029 a0001c0001t0001g0030	2	352	0.0057	36	c.-12 others(55): Show c.-128-3565_-128-3564insATATATATATATATATATATATATAT ATATTTTTTT	USP20	ENSG00000136878.14	transcript	ENST00000372429.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
USP27X_chrX_49874484_49887558	49879574	A A	AGGGGAAG others(29): Show AGGGGAAGGCGGAGGCGGCGGGGAAGGCGGAGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01258.hp1 NA18992.hp2 HG01258.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0012 a0001c0001t0011 a0001c0001t0012	a0001c0001t0011g0000 a0001c0001t0012g0000 a0001c0001t0011g0000 a0001c0001t0012g0000	2	269	0.0074	36	c.-72 others(45): Show c.-725_-690dupCGGAGGCGGCGGGGAAGGCGGAGGCGGCGGGGAAGG	USP27X	ENSG00000273820.2	transcript	ENST00000621775.2	protein_coding	1/1	689	INFO_REALIGN_3_PRIME	chrX	TogoVar
USP34_chr2_61182463_61476087	61311460	G G	GAGAATAA others(29): Show GAGAATAAAAGAAAAGGAAAGGAGAAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0021 a0001c0005t0021	a0001c0005t0021g0074 a0001c0005t0021g0074	1	312	0.0032	36	c.381 others(51): Show c.3817+79_3817+80insTTCTTTCTCTTTTCTCCTTTCCTTTTCTTT TATTCT	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding	27/79			chr2	TogoVar
USP34_chr2_61182463_61476087	61475510	C C	CTATTCCT others(29): Show CTATTCCTATTGGTCCTTTCTTTTTCTTCTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0309 a0001c0003t0027g0309	1	312	0.0032	36	c.-48 others(47): Show c.-4819_-4818insCAAAAAAAGAAGAAAAAGAAAGGACCAATAGGAA TA	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding		4424		chr2	TogoVar
USP36_chr17_78790652_78845814	78821420	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0253 a0009c0010t0001g0253	1	386	0.0026	36	c.758 others(51): Show c.758-360_758-359insAAAAAAAAAATATATATATATATATATATA TATATA	USP36	ENSG00000055483.20	transcript	ENST00000449938.7	protein_coding	7/20			chr17	TogoVar
USP36_chr17_78790652_78845814	78834997	G G	GTGTATAT others(29): Show GTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19240.hp2 HG02615.hp2 NA19240.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0248 a0009c0010t0001g0250 a0009c0010t0001g0248 a0009c0010t0001g0250	2	386	0.0052	36	c.475 others(51): Show c.475+282_475+283insTATATATATATATATATATATATATATATA TATACA	USP36	ENSG00000055483.20	transcript	ENST00000449938.7	protein_coding	4/20			chr17	TogoVar
USP3_chr15_63499593_63599633	63580641	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0128 a0001c0001t0005g0128	1	234	0.0043	36	c.109 others(55): Show c.1096+6248_1096+6249insATATATATATATATATATATATATAT ATATATATAT	USP3	ENSG00000140455.17	transcript	ENST00000380324.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
USP46_chr4_52585960_52664301	52632918	G G	GAGAAAGA others(29): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	192	0.0052	36	c.37- others(51): Show c.37-1810_37-1775dupTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	1/8			chr4	TogoVar
USP49_chr6_41784896_41900375	41828825	T T	TTTTTTTT others(29): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp1 HG01891.hp2 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0043 a0001c0003t0013g0044 a0001c0003t0013g0043 a0001c0003t0013g0044	2	384	0.0052	36	c.-28 others(55): Show c.-28-21815_-28-21814insCTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAA	USP49	ENSG00000164663.15	transcript	ENST00000682992.1	protein_coding	3/7			chr6	TogoVar
USP50_chr15_50495562_50551666	50525572	G G	GTATATGT others(29): Show GTATATGTATATATGTATATGTATATATGTATATGTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	384	0.0026	36	c.936 others(53): Show c.936+4189_936+4224dupTACATATACATATATACATATACATATA TACATATA	USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	6/6			chr15	TogoVar
USP53_chr4_119207713_119300518	119213641	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0025 a0001c0001t0019g0025	1	380	0.0026	36	c.-94 others(53): Show c.-941-409_-941-408insATATATATATATATATATATATATATAT ATATATAT	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(29): Show ATATATATATATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0228 a0001c0001t0009g0228	1	380	0.0026	36	c.-94 others(53): Show c.-941-409_-941-408insATATATATATATGTGTGTGTGTGTGTGT GTGTGTGT	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(29): Show ATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03831.hp1 NA18950.hp1 HG03195.hp1 HG03831.hp1 NA18950.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0004 a0001c0003t0003 a0001c0003t0004	a0001c0003t0003g0240 a0001c0003t0004g0239 a0001c0003t0004g0241 a0001c0003t0003g0240 a0001c0003t0004g0239 a0001c0003t0004g0241	3	380	0.0079	36	c.-94 others(53): Show c.-941-409_-941-408insATATATATATGTGTGTGTGTGTGTGTGT GTGTGTGT	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(29): Show ATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01257.hp1 HG01258.hp1 others(10): Show HG01070.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01433.hp1 HG02004.hp1 HG02004.hp2 HG03041.hp1 HG03239.hp2 NA18943.hp1 NA18981.hp1 NA18999.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0001c0003t0004 a0001c0003t0039 others(1): Show a0001c0003t0003 a0001c0003t0004 a0001c0003t0039 a0002c0002t0014	a0001c0003t0003g0022 a0001c0003t0003g0277 a0001c0003t0003g0280 others(9): Show a0001c0003t0003g0022 a0001c0003t0003g0277 a0001c0003t0003g0280 a0001c0003t0003g0286 a0001c0003t0004g0278 a0001c0003t0004g0279 a0001c0003t0004g0281 a0001c0003t0004g0283 a0001c0003t0004g0284 a0001c0003t0004g0285 a0001c0003t0039g0276 a0002c0002t0014g0282	13	380	0.0342	36	c.-94 others(53): Show c.-941-409_-941-408insATATATATGTGTGTGTGTGTGTGTGTGT GTGTGTGT	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(29): Show ATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp2 HG02922.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0023 a0001c0001t0026g0023	2	380	0.0053	36	c.-94 others(53): Show c.-941-409_-941-408insATATATGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATGT others(29): Show ATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0294 a0001c0001t0017g0294	1	380	0.0026	36	c.-94 others(53): Show c.-941-409_-941-408insATATGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119227256	T T	TATACACA others(29): Show TATACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0324 a0001c0004t0005g0324	1	380	0.0026	36	c.-66 others(55): Show c.-664-8033_-664-8032insTACACACACACACACACACACACACA CACACACACA	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP7_chr16_8887097_8968906	8897726	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0120	1	338	0.0030	36	c.271 others(53): Show c.2719-628_2719-627insATATATATATATATATATATATTTTTTT TTTTTTTT	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30			chr16	TogoVar
USP8_chr15_50419405_50519421	50450462	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0142 a0002c0003t0142	a0002c0003t0142g0098 a0002c0003t0142g0098	1	382	0.0026	36	c.335 others(53): Show c.335+1001_335+1002insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr15	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACACAC others(29): Show ACACACACACACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	293	0.0034	36	c.96+ others(51): Show c.96+1961_96+1962insACACACACACACACACACACACTCTCTCTC TCTCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACACAC others(29): Show ACACACACACACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0151 a0001c0003t0001g0151	1	293	0.0034	36	c.96+ others(51): Show c.96+1961_96+1962insACACACACACACACACACTCTCTCTCTCTC TCTCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACACAC others(29): Show ACACACACACTCACTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0179 a0001c0001t0028g0179	1	293	0.0034	36	c.96+ others(51): Show c.96+1961_96+1962insACACACACTCACTCTCTCTCTCTCTCTCTC TCTCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41161635	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18994.hp1 HG03831.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0188 a0001c0001t0001g0003 a0001c0001t0001g0188	2	293	0.0068	36	c.189 others(55): Show c.1898-1132_1898-1131insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	14/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
UTP11_chr1_38007734_38029820	38012048	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	368	0.0027	36	c.-75 others(45): Show c.-755_-754insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UTP11	ENSG00000183520.12	transcript	ENST00000373014.5	protein_coding		685		chr1	TogoVar
UTP20_chr12_101275105_101391618	101310577	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0037 a0004c0009t0001g0037	1	356	0.0028	36	c.223 others(53): Show c.2231+759_2231+760insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTP20_chr12_101275105_101391618	101310595	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0117 a0002c0005t0005g0117	1	356	0.0028	36	c.223 others(53): Show c.2231+759_2231+760insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGAAA	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTRN_chr6_144280335_144858034	144690074	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0006 a0001c0045t0006	a0001c0045t0006g0060 a0001c0045t0006g0060	1	128	0.0078	36	c.765 others(55): Show c.7653-9991_7653-9990insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	52/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144824472	A A	AGTATATA others(29): Show AGTATATATACACATATACAATAAATATGTATATATT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG03098.hp1 others(5): Show HG00735.hp1 HG01099.hp1 HG03098.hp1 HG03486.hp1 HG03927.hp2 HG04228.hp2 NA18954.hp2 NA19074.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0003 a0001c0052 a0002c0024 others(2): Show a0001c0003 a0001c0052 a0002c0024 a0003c0004 a0010c0046	a0001c0003t0006 a0001c0052t0028 a0002c0024t0003 others(3): Show a0001c0003t0006 a0001c0052t0028 a0002c0024t0003 a0003c0004t0002 a0003c0004t0003 a0010c0046t0020	a0001c0003t0006g0029 a0001c0052t0028g0113 a0002c0024t0003g0097 others(5): Show a0001c0003t0006g0029 a0001c0052t0028g0113 a0002c0024t0003g0097 a0003c0004t0002g0027 a0003c0004t0003g0107 a0003c0004t0003g0108 a0003c0004t0003g0111 a0010c0046t0020g0069	8	128	0.0625	36	c.949 others(55): Show c.9495-2866_9495-2831dupCACATATACAATAAATATGTATATAT TGTATATATA	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	66/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTS2_chr1_7842612_7858065	7857100	A A	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	468	0.0021	36	c.-40 others(47): Show c.-4098_-4097insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TT	UTS2	ENSG00000049247.14	transcript	ENST00000361696.10	protein_coding		4036		chr1	TogoVar
UTS2_chr1_7842612_7858065	7857107	T T	TGAAGGAA others(29): Show TGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	468	0.0021	36	c.-41 others(47): Show c.-4105_-4104insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TC	UTS2	ENSG00000049247.14	transcript	ENST00000361696.10	protein_coding		4043		chr1	TogoVar
UTY_chrY_13243385_13485033	13446619	T T	TAGATAGA others(29): Show TAGATAGATAGATAGACAGACAGACAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	126	0.0079	36	c.375 others(53): Show c.375+2397_375+2398insGTCTGTCTGTCTGTCTGTCTGTCTATCT ATCTATCT	UTY	ENSG00000183878.16	transcript	ENST00000545955.6	protein_coding	4/29			chrY	TogoVar
UTY_chrY_13243385_13485033	13446619	T T	TAGATAGA others(29): Show TAGATAGATAGATAGATAGACAGACAGACAGACAGAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	126	0.0079	36	c.375 others(53): Show c.375+2397_375+2398insGTCTGTCTGTCTGTCTGTCTATCTATCT ATCTATCT	UTY	ENSG00000183878.16	transcript	ENST00000545955.6	protein_coding	4/29			chrY	TogoVar
UTY_chrY_13243385_13485033	13446619	T T	TAGATAGA others(29): Show TAGATAGATAGATAGATAGATAGATAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18959.hp1 HG02698.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0061 a0001c0001t0001g0062	2	126	0.0159	36	c.375 others(53): Show c.375+2397_375+2398insGTCTGTCTGTCTATCTATCTATCTATCT ATCTATCT	UTY	ENSG00000183878.16	transcript	ENST00000545955.6	protein_coding	4/29			chrY	TogoVar
UVRAG_chr11_75810210_76149232	76003288	T T	TTTTTTTT others(29): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	146	0.0069	36	c.827 others(51): Show c.827-717_827-716insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTG	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	8/14			chr11	TogoVar

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