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
UCK2_chr1_165822614_165916618	165880562	TGGGGGTG others(14): Show TGGGGGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	320	0.0031	-21	c.100 others(38): Show c.100-9641_100-9621delGGGGGTGTGTGTGTGTGTGTG	UCK2	ENSG00000143179.16	transcript	ENST00000367879.9	protein_coding	1/6			chr1	TogoVar
UCP2_chr11_73969672_73987843	73986517	GGTTTTTT others(14): Show GGTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0005 a0002c0002t0004g0005	1	420	0.0024	-21	c.-40 others(32): Show c.-4074_-4054delAAAAAAAAAAAAAAAAAAAAC	UCP2	ENSG00000175567.11	transcript	ENST00000663595.2	protein_coding		3675		chr11	TogoVar
UCP2_chr11_73969672_73987843	73986518	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	420	0.0024	-21	c.-40 others(32): Show c.-4075_-4055delAAAAAAAAAAAAAAAAAAAAA	UCP2	ENSG00000175567.11	transcript	ENST00000663595.2	protein_coding		3676		chr11	TogoVar
UCP3_chr11_73995277_74014085	74000641	AGCTTTTG others(14): Show AGCTTTTGCTTTTATAAAGTGC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0090 a0001c0001t0012g0090	1	446	0.0022	-21	c.75 others(30): Show c.750_*770delGCACTTTATAAAAGCAAAAGC	UCP3	ENSG00000175564.13	transcript	ENST00000314032.9	protein_coding	7/7	750		chr11	TogoVar
UGGT1_chr2_128086200_128200677	128169048	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02976.hp1 NA18906.hp2 others(1): Show HG02258.hp2 HG02976.hp1 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0032 a0001c0004t0012g0039 a0001c0004t0012g0040 others(1): Show a0001c0004t0012g0032 a0001c0004t0012g0039 a0001c0004t0012g0040 a0001c0004t0012g0106	4	332	0.0121	-21	c.292 others(40): Show c.2922-1217_2922-1197delAAAAAAAAAAAAAAAAAAAAA	UGGT1	ENSG00000136731.13	transcript	ENST00000259253.11	protein_coding	26/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGGT2_chr13_95796580_96058401	95832019	AGAAAACT others(14): Show AGAAAACTTTTTTTTTTTAAAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0134 a0002c0002t0001g0134	1	332	0.0030	-21	c.452 others(38): Show c.4528+887_4528+907delCTTTAAAAAAAAAAAGTTTTC	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding	38/38			chr13	TogoVar
UGT1A10_chr2_233631448_233778300	233725198	AGAGGCAG others(14): Show AGAGGCAGAGGCAGAGGCAGAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG03579.hp2 HG02615.hp2 HG02622.hp2 HG03579.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0009 a0003c0004t0001g0010 a0003c0004t0001g0011 a0003c0004t0001g0009 a0003c0004t0001g0010 a0003c0004t0001g0011	3	302	0.0099	-21	c.856 others(40): Show c.856-41819_856-41799delCAGAGGAGGCAGAGGCAGAGG	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233725198	AGAGGCAG others(14): Show AGAGGCAGAGGCAGAGGCAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG03195.hp1 others(1): Show HG02615.hp1 HG02622.hp2 HG03195.hp1 HG03579.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0037 a0008c0008t0001g0237 a0008c0008t0001g0238 a0008c0008t0001g0037 a0008c0008t0001g0237 a0008c0008t0001g0238	4	350	0.0114	-21	c.-39 others(32): Show c.-3928_-3908delGAGGCAGAGGCAGAGGCAGAG	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding		3843		chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233725198	AGAGGCAG others(14): Show AGAGGCAGAGGCAGAGGCAGAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG03195.hp2 others(1): Show HG02615.hp2 HG02622.hp2 HG03195.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0007 a0001c0001t0001g0164 a0001c0001t0001g0165	4	332	0.0121	-21	c.867 others(38): Show c.867+5528_867+5548delCAGAGGAGGCAGAGGCAGAGG	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233725198	AGAGGCAG others(14): Show AGAGGCAGAGGCAGAGGCAGAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp1 HG03195.hp2 others(1): Show HG02615.hp1 HG02622.hp1 HG03195.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0009 a0001c0002t0001g0077 a0001c0002t0001g0078	4	330	0.0121	-21	c.867 others(40): Show c.867+11357_867+11377delCAGAGGAGGCAGAGGCAGAGG	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233725198	AGAGGCAG others(14): Show AGAGGCAGAGGCAGAGGCAGAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG03195.hp1 others(1): Show HG02615.hp2 HG02622.hp2 HG03195.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0001g0128	4	332	0.0121	-21	c.861 others(40): Show c.861+31350_861+31370delCAGAGGAGGCAGAGGCAGAGG	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233725198	AGAGGCAG others(14): Show AGAGGCAGAGGCAGAGGCAGAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp1 HG03195.hp2 others(1): Show HG02615.hp2 HG02622.hp1 HG03195.hp2 HG03579.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0003 a0003c0004t0001g0188 a0003c0004t0001g0189 a0003c0004t0001g0003 a0003c0004t0001g0188 a0003c0004t0001g0189	4	320	0.0125	-21	c.856 others(40): Show c.856-41819_856-41799delCAGAGGAGGCAGAGGCAGAGG	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233725198	AGAGGCAG others(14): Show AGAGGCAGAGGCAGAGGCAGAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG03195.hp1 others(1): Show HG02615.hp1 HG02622.hp2 HG03195.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0097 a0001c0003t0001g0098 a0001c0003t0001g0099 others(1): Show a0001c0003t0001g0097 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0101	4	290	0.0138	-21	c.856 others(40): Show c.856-41819_856-41799delCAGAGGAGGCAGAGGCAGAGG	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233725198	AGAGGCAG others(14): Show AGAGGCAGAGGCAGAGGCAGAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG03195.hp1 others(1): Show HG02615.hp1 HG02622.hp2 HG03195.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0007 a0001c0001t0001g0203 a0001c0001t0001g0204	4	318	0.0126	-21	c.856 others(40): Show c.856-41819_856-41799delCAGAGGAGGCAGAGGCAGAGG	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT2B4_chr4_69475165_69500905	69500652	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG02257.hp1 others(6): Show HG01515.hp1 HG01517.hp2 HG02257.hp1 HG02698.hp1 HG02738.hp1 NA18942.hp2 NA18995.hp2 NA19057.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0002g0001 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0020 a0001c0001t0002g0041 a0001c0001t0002g0086 a0001c0001t0002g0087	9	436	0.0206	-21	c.-48 others(32): Show c.-4812_-4792delCTTCCTTTCTTTCTTTCTTTC	UGT2B4	ENSG00000156096.15	transcript	ENST00000305107.7	protein_coding		4748		chr4	TogoVar
UGT2B7_chr4_69091474_69117987	69092570	GAAAAAGT others(14): Show GAAAAAGTAAAATATAAAATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02451.hp1 HG02717.hp2 others(9): Show HG01167.hp2 HG02451.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp2 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0014t0002 a0001c0001t0001 a0001c0001t0002 a0001c0014t0002	a0001c0001t0001g0007 a0001c0001t0001g0076 a0001c0001t0001g0100 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0076 a0001c0001t0001g0100 a0001c0001t0002g0007 a0001c0014t0002g0007	12	424	0.0283	-21	c.-39 others(32): Show c.-3950_-3930delAAAAAGTAAAATATAAAATAT	UGT2B7	ENSG00000171234.14	transcript	ENST00000305231.12	protein_coding		3903		chr4	TogoVar
UGT2B7_chr4_69091474_69117987	69105255	ATAAAATA others(14): Show ATAAAATATAGTAGAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(95): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG01070.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01891.hp1 HG01943.hp1 HG02015.hp2 HG02027.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02602.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18942.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18973.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA19000.hp1 NA19001.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19064.hp2 NA19070.hp2 NA19076.hp1 NA19077.hp1 NA19080.hp2 NA19087.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0001c0010 others(2): Show a0001c0001 a0001c0005 a0001c0010 a0001c0014 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0005t0001 a0001c0005t0002 a0001c0010t0002 a0001c0014t0002 a0003c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0032 others(25): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0100 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0006g0004 a0001c0001t0006g0079 a0001c0005t0001g0003 a0001c0005t0001g0007 a0001c0005t0001g0009 a0001c0005t0001g0034 a0001c0005t0001g0075 a0001c0005t0001g0077 a0001c0005t0001g0081 a0001c0005t0001g0082 a0001c0005t0001g0083 a0001c0005t0002g0007 a0001c0010t0002g0026 a0001c0014t0002g0007 a0003c0004t0001g0003 a0003c0004t0001g0021 a0003c0004t0001g0074	98	424	0.2311	-21	c.100 others(40): Show c.1003-1917_1003-1897delAAATATAGTAGAAATATATTA	UGT2B7	ENSG00000171234.14	transcript	ENST00000305231.12	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
UIMC1_chr5_176900006_177011779	176922654	GATAAACC others(14): Show GATAAACCATCTTTGTCTATAC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0199 a0001c0002t0001g0199	1	330	0.0030	-21	c.159 others(42): Show c.1598-11286_1598-11266delGTATAGACAAAGATGGTTTAT	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	10/14			chr5	TogoVar
UIMC1_chr5_176900006_177011779	176938169	TACAGAGT others(14): Show TACAGAGTAAGACCCTGTCTCA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0003 a0003c0004t0002g0003	1	330	0.0030	-21	c.159 others(40): Show c.1597+5145_1597+5165delTGAGACAGGGTCTTACTCTGT	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	10/14			chr5	TogoVar
ULK3_chr15_74831118_74848156	74847626	CTGCCAGA others(14): Show CTGCCAGAGGGAGGGGACCAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0010 a0001c0003t0001g0010	1	440	0.0023	-21	c.-45 others(32): Show c.-4542_-4522delTTTGGTCCCCTCCCTCTGGCA	ULK3	ENSG00000140474.14	transcript	ENST00000440863.7	protein_coding		4471		chr15	TogoVar
UMAD1_chr7_7635752_7884223	7847095	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0222 a0001c0001t0067g0222	1	250	0.0040	-21	c.157 others(40): Show c.157-30184_157-30164delAAAAAAAAATATATATATATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847099	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19010.hp1 NA19011.hp1 others(2): Show HG02132.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0023 others(1): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0023 a0001c0001t0031	a0001c0001t0002g0031 a0001c0001t0002g0083 a0001c0001t0017g0201 others(2): Show a0001c0001t0002g0031 a0001c0001t0002g0083 a0001c0001t0017g0201 a0001c0001t0023g0202 a0001c0001t0031g0246	5	250	0.0200	-21	c.157 others(40): Show c.157-30180_157-30160delAAAAATATATATATATATATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847101	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03579.hp2 HG02280.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0035 a0001c0001t0002 a0001c0001t0035	a0001c0001t0002g0014 a0001c0001t0035g0161 a0001c0001t0002g0014 a0001c0001t0035g0161	2	250	0.0080	-21	c.157 others(40): Show c.157-30178_157-30158delAAATATATATATATATATATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847103	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02647.hp1 HG04115.hp2 HG02080.hp1 HG02647.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0071 a0001c0001t0002 a0001c0001t0005 a0001c0001t0071	a0001c0001t0002g0073 a0001c0001t0005g0008 a0001c0001t0071g0004 a0001c0001t0002g0073 a0001c0001t0005g0008 a0001c0001t0071g0004	3	250	0.0120	-21	c.157 others(40): Show c.157-30176_157-30156delATATATATATATATATATATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847105	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02717.hp2 HG00597.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0167 a0001c0001t0015g0111 a0001c0001t0002g0167 a0001c0001t0015g0111	2	250	0.0080	-21	c.157 others(40): Show c.157-30175_157-30155delTATATATATATATATATATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3			chr7	TogoVar
UNC13B_chr9_35157009_35410335	35255019	GTATATAT others(14): Show GTATATATAATATAATATATAT	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0201 a0005c0006t0001g0201	1	224	0.0045	-21	c.469 others(38): Show c.469-3949_469-3929delATATAATATAATATATATTAT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	6/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54172709	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00639.hp2 others(9): Show HG00099.hp2 HG00423.hp1 HG00639.hp2 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02602.hp1 NA18612.hp1 NA18947.hp2 NA18993.hp1 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0012 a0002c0015 a0002c0018 a0005c0027	a0001c0001t0001 a0001c0001t0016 a0001c0001t0047 others(8): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0047 a0001c0003t0005 a0001c0003t0010 a0001c0003t0050 a0001c0005t0003 a0001c0012t0017 a0002c0015t0012 a0002c0018t0004 a0005c0027t0008	a0001c0001t0001g0045 a0001c0001t0016g0113 a0001c0001t0047g0131 others(9): Show a0001c0001t0001g0045 a0001c0001t0016g0113 a0001c0001t0047g0131 a0001c0003t0005g0128 a0001c0003t0010g0026 a0001c0003t0050g0012 a0001c0005t0003g0068 a0001c0005t0003g0097 a0001c0012t0017g0117 a0002c0015t0012g0047 a0002c0018t0004g0048 a0005c0027t0008g0072	12	158	0.0760	-21	c.307 others(42): Show c.3071+29026_3071+29046delATATATATATATATATATATA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32			chr15	TogoVar
UNC13C_chr15_53973441_54633605	54612054	TTTATAAA others(14): Show TTTATAAAACACCATCTGTCAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00639.hp1 others(60): Show HG00423.hp1 HG00423.hp2 HG00639.hp1 HG00738.hp2 HG01123.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG01993.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02300.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03209.hp1 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18947.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18964.hp2 NA18979.hp1 NA18991.hp1 NA18993.hp2 NA19030.hp1 NA19064.hp2 NA19081.hp1 NA19090.hp2 NA20129.hp1 NA20752.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0014	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0014 a0001c0020 a0001c0021 a0001c0032 a0001c0034 a0001c0035 a0001c0040 a0002c0016 a0002c0018 a0002c0019 a0002c0036 a0003c0037 a0004c0009 a0005c0011 a0008c0022 a0014c0025	a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 others(38): Show a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0021 a0001c0002t0023 a0001c0002t0024 a0001c0002t0048 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0010 a0001c0003t0021 a0001c0003t0039 a0001c0003t0042 a0001c0003t0050 a0001c0003t0053 a0001c0005t0003 a0001c0014t0002 a0001c0020t0001 a0001c0020t0008 a0001c0021t0013 a0001c0032t0004 a0001c0034t0058 a0001c0035t0001 a0001c0040t0026 a0002c0016t0004 a0002c0018t0004 a0002c0019t0031 a0002c0036t0004 a0003c0037t0008 a0004c0009t0005 a0004c0009t0026 a0005c0011t0003 a0008c0022t0010 a0014c0025t0018	a0001c0001t0037g0158 a0001c0002t0001g0005 a0001c0002t0001g0018 others(60): Show a0001c0001t0037g0158 a0001c0002t0001g0005 a0001c0002t0001g0018 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0001g0040 a0001c0002t0002g0063 a0001c0002t0002g0082 a0001c0002t0005g0123 a0001c0002t0005g0126 a0001c0002t0006g0112 a0001c0002t0006g0127 a0001c0002t0009g0134 a0001c0002t0021g0080 a0001c0002t0023g0064 a0001c0002t0023g0098 a0001c0002t0024g0116 a0001c0002t0048g0111 a0001c0003t0001g0019 a0001c0003t0002g0088 a0001c0003t0003g0065 a0001c0003t0003g0103 a0001c0003t0004g0011 a0001c0003t0005g0120 a0001c0003t0005g0125 a0001c0003t0005g0128 a0001c0003t0009g0110 a0001c0003t0009g0114 a0001c0003t0009g0119 a0001c0003t0010g0009 a0001c0003t0010g0023 a0001c0003t0010g0026 a0001c0003t0021g0155 a0001c0003t0039g0101 a0001c0003t0042g0107 a0001c0003t0050g0012 a0001c0003t0053g0058 a0001c0005t0003g0066 a0001c0005t0003g0068 a0001c0005t0003g0097 a0001c0014t0002g0076 a0001c0014t0002g0087 a0001c0020t0001g0043 a0001c0020t0008g0085 a0001c0021t0013g0038 a0001c0021t0013g0039 a0001c0032t0004g0057 a0001c0034t0058g0149 a0001c0035t0001g0001 a0001c0040t0026g0027 a0002c0016t0004g0053 a0002c0016t0004g0055 a0002c0018t0004g0046 a0002c0019t0031g0071 a0002c0036t0004g0010 a0003c0037t0008g0094 a0004c0009t0005g0132 a0004c0009t0026g0021 a0005c0011t0003g0073 a0005c0011t0003g0078 a0008c0022t0010g0061 a0014c0025t0018g0030	63	158	0.3987	-21	c.610 others(42): Show c.6107-10272_6107-10252delTTATAAAACACCATCTGTCAC	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	30/32			chr15	TogoVar
UNC5A_chr5_176805559_176885898	176805964	AAGAAAGA others(14): Show AAGAAAGAAAGAAAGAAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	268	0.0037	-21	c.-47 others(32): Show c.-4786_-4766delAGAAAGAAAGAAAGAAAGAAG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding		4594		chr5	TogoVar
UNC5A_chr5_176805559_176885898	176810503	CCGCGGCG others(14): Show CCGCGGCGCGGCTGGCTCGGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	268	0.0037	-21	c.-24 others(30): Show c.-247_-227delCGCGGCGCGGCTGGCTCGGTG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding		55		chr5	TogoVar
UNC5A_chr5_176805559_176885898	176829485	GGTGGGTG others(14): Show GGTGGGTGGATGGATGGATAAA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	268	0.0037	-21	c.70+ others(38): Show c.70+18678_70+18698delATGGATAAAGTGGGTGGATGG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176870888	CCCACACC others(14): Show CCCACACCACAGCTTCCCATCT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	268	0.0037	-21	c.886 others(36): Show c.886+355_886+375delCCACACCACAGCTTCCCATCT	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14			chr5	TogoVar
UNC5B_chr10_71207570_71307864	71268460	ATGAAGGG others(14): Show ATGAAGGGTCCCCAGCTGGAGG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0015 a0001c0006t0015	a0001c0006t0015g0021 a0001c0006t0015g0021	1	368	0.0027	-21	c.80- others(38): Show c.80-11348_80-11328delAGCTGGAGGTGAAGGGTCCCC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5D_chr8_35230475_35801540	35300446	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	64	0.0156	-21	c.103 others(40): Show c.103+64587_103+64607delAAAAAAAAAAAAAAAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35342114	AGCCCTTT others(14): Show AGCCCTTTGTAGAATTCGTAGG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0017 a0002c0005t0017	a0002c0005t0017g0030 a0002c0005t0017g0030	1	64	0.0156	-21	c.103 others(42): Show c.103+106232_103+106252delTTTGTAGAATTCGTAGGGCCC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UPF2_chr10_11915022_12047809	11938842	GTTTTTTT others(14): Show GTTTTTTTTTTGTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03209.hp2 NA18522.hp1 HG02897.hp2 HG03209.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0241 a0001c0002t0001g0252 a0001c0002t0001g0315 a0001c0002t0001g0241 a0001c0002t0001g0252 a0001c0002t0001g0315	3	334	0.0090	-21	c.337 others(40): Show c.3379-2151_3379-2131delAAAAAAAAAACAAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF3A_chr13_114276601_114310817	114287153	TTACTTCC others(14): Show TTACTTCCCAGTAGCACCAACA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0171 a0001c0001t0001g0006 a0001c0001t0001g0171	3	450	0.0067	-21	c.631 others(36): Show c.631+547_631+567delACTTCCCAGTAGCACCAACAT	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPK1B_chr3_119168598_119210143	119175012	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	422	0.0024	-21	c.-29 others(38): Show c.-29+1389_-29+1409delTTTTTTTTTTTTTTTTTTTTT	UPK1B	ENSG00000114638.8	transcript	ENST00000264234.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
URI1_chr19_29937239_30021612	29985119	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0117 a0002c0002t0001g0117	1	328	0.0031	-21	c.153 others(34): Show c.153-66_153-46delAAAAAAAAAAAAAAAAAAAAA	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
USH1C_chr11_17488900_17549416	17544438	AGGGGCGG others(14): Show AGGGGCGGGGCCAGGCCTCTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0106 a0002c0002t0002g0106	1	360	0.0028	-21	c.-15 others(30): Show c.-152_-132delACAGAGGCCTGGCCCCGCCCC	USH1C	ENSG00000006611.17	transcript	ENST00000005226.12	protein_coding		23		chr11	TogoVar
USH1C_chr11_17488900_17549416	17548418	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02735.hp2 HG01167.hp2 HG02735.hp2	a0001 a0005 a0001 a0005	a0001c0024 a0005c0038 a0001c0024 a0005c0038	a0001c0024t0001 a0005c0038t0001 a0001c0024t0001 a0005c0038t0001	a0001c0024t0001g0312 a0005c0038t0001g0273 a0001c0024t0001g0312 a0005c0038t0001g0273	2	360	0.0056	-21	c.-41 others(32): Show c.-4132_-4112delAAAAAAAAAAAAAAAAAAAAA	USH1C	ENSG00000006611.17	transcript	ENST00000005226.12	protein_coding		4003		chr11	TogoVar
USO1_chr4_75719577_75819286	75809156	CTTTAGAT others(14): Show CTTTAGATTACTTACTAGCCGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(146): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03098.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18949.hp1 NA18950.hp2 NA18953.hp1 NA18959.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18990.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0008	a0001c0001 a0001c0004 a0001c0007 others(8): Show a0001c0001 a0001c0004 a0001c0007 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0018 a0003c0008 a0006c0013 a0008c0019	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0004t0002 a0001c0007t0001 a0001c0010t0002 a0001c0011t0001 a0001c0012t0001 a0001c0014t0002 a0001c0018t0001 a0003c0008t0001 a0006c0013t0004 a0008c0019t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(145): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0179 a0001c0001t0001g0217 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0003g0057 a0001c0001t0003g0072 a0001c0004t0001g0049 a0001c0004t0002g0001 a0001c0004t0002g0007 a0001c0004t0002g0008 a0001c0004t0002g0009 a0001c0004t0002g0010 a0001c0004t0002g0011 a0001c0004t0002g0013 a0001c0004t0002g0014 a0001c0004t0002g0015 a0001c0004t0002g0016 a0001c0004t0002g0017 a0001c0004t0002g0018 a0001c0004t0002g0019 a0001c0004t0002g0020 a0001c0004t0002g0021 a0001c0004t0002g0022 a0001c0004t0002g0023 a0001c0004t0002g0024 a0001c0004t0002g0025 a0001c0004t0002g0026 a0001c0004t0002g0027 a0001c0004t0002g0028 a0001c0004t0002g0029 a0001c0004t0002g0030 a0001c0004t0002g0031 a0001c0004t0002g0032 a0001c0004t0002g0033 a0001c0004t0002g0034 a0001c0004t0002g0035 a0001c0007t0001g0101 a0001c0007t0001g0151 a0001c0010t0002g0006 a0001c0011t0001g0103 a0001c0012t0001g0054 a0001c0014t0002g0036 a0001c0018t0001g0141 a0003c0008t0001g0090 a0003c0008t0001g0129 a0006c0013t0004g0038 a0008c0019t0001g0059	149	288	0.5174	-21	c.247 others(38): Show c.2475+107_2475+127delTTAGATTACTTACTAGCCGGT	USO1	ENSG00000138768.15	transcript	ENST00000514213.7	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP10_chr16_84695000_84784922	84697688	TATATATA others(14): Show TATATATATATATATATATATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02735.hp2 HG04199.hp2 others(1): Show HG02723.hp2 HG02735.hp2 HG04199.hp2 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0001 a0002c0004 a0001c0007 a0002c0001 a0002c0004	a0001c0007t0001 a0002c0001t0001 a0002c0004t0001 a0001c0007t0001 a0002c0001t0001 a0002c0004t0001	a0001c0007t0001g0040 a0002c0001t0001g0124 a0002c0004t0001g0074 others(1): Show a0001c0007t0001g0040 a0002c0001t0001g0124 a0002c0004t0001g0074 a0002c0004t0001g0143	4	430	0.0093	-21	c.-24 others(32): Show c.-2402_-2382delATATATATATATATATATATG	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding		2311		chr16	TogoVar
USP17L21_chr4_9257872_9269464	9268248	CCACGGCA others(14): Show CCACGGCATTTCAGACACTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0071 a0071	a0071c0080 a0071c0080	a0071c0080t0000 a0071c0080t0000	a0071c0080t0000g0000 a0071c0080t0000g0000	1	174	0.0058	-21	c.37 others(32): Show c.3785_*3805delCACGGCATTTCAGACACTTTT	USP17L21	ENSG00000249811.3	transcript	ENST00000506414.1	protein_coding		3785		chr4	TogoVar
USP24_chr1_55061359_55220364	55075653	ACAACAAC others(14): Show ACAACAACAACAACACCACCAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0088 a0002c0002t0009g0088	1	198	0.0051	-21	c.738 others(38): Show c.7381-151_7381-131delGTGGTGGTGTTGTTGTTGTTG	USP24	ENSG00000162402.15	transcript	ENST00000294383.7	protein_coding	62/67			chr1	TogoVar
USP25_chr21_15724982_15885064	15740641	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19030.hp2 HG03540.hp2 NA19030.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0029 a0003c0007t0005g0030 a0003c0007t0005g0029 a0003c0007t0005g0030	2	200	0.0100	-21	c.45+ others(38): Show c.45+10216_45+10236delTTTTTTTTTTTTTTTTTTTTT	USP25	ENSG00000155313.16	transcript	ENST00000400183.7	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr21	TogoVar
USP25_chr21_15724982_15885064	15846135	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	200	0.0050	-21	c.233 others(40): Show c.2338-1527_2338-1507delATATATATATATATATATATA	USP25	ENSG00000155313.16	transcript	ENST00000400183.7	protein_coding	18/25			chr21	TogoVar
USP34_chr2_61182463_61476087	61298537	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0001 a0009c0019t0001	a0009c0019t0001g0292 a0009c0019t0001g0292	1	312	0.0032	-21	c.412 others(40): Show c.4129-1633_4129-1613delTTTTTTTTTTTTTTTTTTTTT	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding	29/79			chr2	TogoVar
USP36_chr17_78790652_78845814	78821404	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18979.hp1 NA19065.hp2 NA18969.hp1 NA18979.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019	3	386	0.0078	-21	c.758 others(36): Show c.758-364_758-344delAAAAATATATATATATATATA	USP36	ENSG00000055483.20	transcript	ENST00000449938.7	protein_coding	7/20			chr17	TogoVar
USP43_chr17_9640517_9734687	9681456	AATATATT others(14): Show AATATATTATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00423.hp2 others(135): Show HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01243.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01952.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18991.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19066.hp2 NA19070.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0007 others(14): Show a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0016 a0001c0023 a0001c0033 a0001c0034 a0001c0037 a0001c0040 a0001c0046 a0002c0009 a0002c0017 a0002c0035 a0002c0036 a0002c0047 a0003c0041	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(26): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0011 a0001c0002t0013 a0001c0002t0014 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0009 a0001c0003t0012 a0001c0007t0001 a0001c0008t0001 a0001c0016t0002 a0001c0023t0002 a0001c0033t0001 a0001c0034t0001 a0001c0037t0005 a0001c0040t0003 a0001c0046t0001 a0002c0009t0001 a0002c0017t0001 a0002c0035t0001 a0002c0036t0001 a0002c0047t0001 a0003c0041t0001	a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0008 others(134): Show a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0046 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0099 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0174 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0188 a0001c0002t0001g0191 a0001c0002t0001g0195 a0001c0002t0001g0220 a0001c0002t0001g0234 a0001c0002t0001g0265 a0001c0002t0001g0271 a0001c0002t0001g0275 a0001c0002t0001g0291 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0003g0032 a0001c0002t0003g0142 a0001c0002t0003g0192 a0001c0002t0005g0175 a0001c0002t0010g0072 a0001c0002t0011g0237 a0001c0002t0013g0035 a0001c0002t0014g0029 a0001c0003t0001g0017 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0037 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0047 a0001c0003t0001g0051 a0001c0003t0001g0056 a0001c0003t0001g0058 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0075 a0001c0003t0001g0078 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0091 a0001c0003t0001g0093 a0001c0003t0001g0095 a0001c0003t0001g0097 a0001c0003t0001g0098 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0001g0112 a0001c0003t0001g0125 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0003g0094 a0001c0003t0005g0096 a0001c0003t0006g0057 a0001c0003t0006g0090 a0001c0003t0006g0104 a0001c0003t0007g0077 a0001c0003t0009g0038 a0001c0003t0012g0064 a0001c0007t0001g0050 a0001c0007t0001g0052 a0001c0007t0001g0053 a0001c0007t0001g0054 a0001c0007t0001g0076 a0001c0007t0001g0079 a0001c0007t0001g0092 a0001c0007t0001g0102 a0001c0007t0001g0108 a0001c0007t0001g0121 a0001c0008t0001g0153 a0001c0008t0001g0158 a0001c0008t0001g0164 a0001c0008t0001g0173 a0001c0008t0001g0274 a0001c0008t0001g0306 a0001c0016t0002g0065 a0001c0016t0002g0105 a0001c0023t0002g0190 a0001c0033t0001g0031 a0001c0034t0001g0163 a0001c0037t0005g0165 a0001c0040t0003g0049 a0001c0046t0001g0200 a0002c0009t0001g0085 a0002c0009t0001g0086 a0002c0009t0001g0120 a0002c0009t0001g0122 a0002c0009t0001g0123 a0002c0009t0001g0168 a0002c0017t0001g0061 a0002c0017t0001g0087 a0002c0017t0001g0124 a0002c0035t0001g0266 a0002c0036t0001g0297 a0002c0047t0001g0216 a0003c0041t0001g0043	138	330	0.4182	-21	c.110 others(40): Show c.1105+1097_1105+1117delTATATATATATATATATATAT	USP43	ENSG00000154914.17	transcript	ENST00000285199.12	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr17	TogoVar

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