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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02109.hp1 HG02615.hp2 others(4): Show HG00323.hp2 HG02109.hp1 HG02615.hp2 HG02622.hp1 NA18949.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0005 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0002 a0004c0005t0001	a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0326 others(4): Show a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0326 a0001c0001t0005g0328 a0002c0002t0002g0013 a0002c0002t0002g0017 a0004c0005t0001g0302	7	356	0.0197	22	c.848 others(37): Show c.848+373_848+374insATATATTTTTTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01071.hp1 HG01496.hp1 others(2): Show HG00609.hp2 HG01071.hp1 HG01496.hp1 HG02083.hp2 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0001c0001t0001 a0001c0001t0003 a0002c0002t0002	a0001c0001t0001g0206 a0001c0001t0001g0253 a0001c0001t0001g0318 others(2): Show a0001c0001t0001g0206 a0001c0001t0001g0253 a0001c0001t0001g0318 a0001c0001t0003g0264 a0002c0002t0002g0105	5	356	0.0140	22	c.848 others(37): Show c.848+373_848+374insATATATATTTTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02280.hp1 HG02698.hp1 others(3): Show HG01257.hp2 HG02280.hp1 HG02698.hp1 HG02698.hp2 HG03492.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0276 others(3): Show a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0314 a0001c0001t0001g0353	6	356	0.0169	22	c.848 others(37): Show c.848+373_848+374insATATATATATTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	356	0.0028	22	c.848 others(37): Show c.848+373_848+374insATATATATATATTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18957.hp2 HG00673.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0250 a0001c0001t0001g0158 a0001c0001t0001g0250	2	356	0.0056	22	c.848 others(37): Show c.848+373_848+374insATATATATATATATTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	356	0.0028	22	c.848 others(37): Show c.848+373_848+374insATATATATATATATATTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL3_chr7_134981508_135140778	135026244	A A	ATTATTTT others(15): Show ATTATTTTATTTTATTTTTTTAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0014 a0002c0002t0002g0014	1	320	0.0031	22	c.419 others(39): Show c.419-6583_419-6582insTTTATTTATTTTATTTTATTTT	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGBL4_chr1_48527854_50028954	49530259	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03453.hp1 HG02647.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0097 a0002c0003t0001g0013 a0001c0001t0002g0097 a0002c0003t0001g0013	2	104	0.0192	22	c.282 others(43): Show c.282+167053_282+167054insTTTTTTTTTTTTTTTTTTTTTT	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	3/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	49971907	G G	GTTGTTTT others(15): Show GTTGTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp2 NA18906.hp1 HG01243.hp2 HG02559.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0003 a0001c0004t0010 a0001c0001t0003 a0001c0004t0003 a0001c0004t0010	a0001c0001t0003g0100 a0001c0004t0003g0062 a0001c0004t0010g0048 a0001c0001t0003g0100 a0001c0004t0003g0062 a0001c0004t0010g0048	3	104	0.0289	22	c.34+ others(39): Show c.34+51855_34+51856insAAAAAAAAAAAAAAAAAAACAA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	50019306	T T	TCTCTCTC others(15): Show TCTCTCTCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0073 a0001c0002t0003g0073	1	104	0.0096	22	c.34+ others(37): Show c.34+4456_34+4457insTGTGTGTGTGTGTGAGAGAGAG	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	50019306	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0001 a0001c0001t0016g0001	1	104	0.0096	22	c.34+ others(37): Show c.34+4456_34+4457insTGTGTGAGAGAGAGAGAGAGAG	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGFG2_chr7_100534203_100573220	100551030	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG03453.hp1 others(1): Show HG00140.hp2 HG00558.hp1 HG03453.hp1 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0027 a0001c0001t0001g0093 a0001c0001t0001g0178 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0093 a0001c0001t0001g0178 a0002c0002t0001g0218	4	246	0.0163	22	c.431 others(37): Show c.431+535_431+556dupATATATATATATATATATATAT	AGFG2	ENSG00000106351.13	transcript	ENST00000300176.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGK_chr7_141546410_141660244	141602172	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02080.hp2 HG01070.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0068 a0001c0001t0001g0049 a0001c0001t0001g0068	2	274	0.0073	22	c.297 others(37): Show c.297+892_297+893insGTGTGTGTGTGTGTGTGTGTGT	AGK	ENSG00000006530.18	transcript	ENST00000649286.2	protein_coding	5/15			chr7	TogoVar
AGK_chr7_141546410_141660244	141602173	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00735.hp1 others(12): Show HG00408.hp2 HG00544.hp1 HG00735.hp1 HG01496.hp1 HG02148.hp1 HG02572.hp2 HG02895.hp1 HG02897.hp2 HG03831.hp1 NA18947.hp2 NA18986.hp2 NA18990.hp2 NA18992.hp1 NA19006.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0039 others(12): Show a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0222 a0001c0001t0008g0033 a0001c0001t0008g0034	15	274	0.0547	22	c.297 others(37): Show c.297+911_297+932dupGTGTGTGTGTGTGTGTGTGTGT	AGK	ENSG00000006530.18	transcript	ENST00000649286.2	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGMO_chr7_15195317_15567015	15248214	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	236	0.0042	22	c.126 others(43): Show c.1264-46856_1264-46855insCATATATATATATATATATATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15361546	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00558.hp1 others(16): Show HG00140.hp1 HG00280.hp2 HG00558.hp1 HG01070.hp1 HG01168.hp2 HG01169.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG02165.hp2 HG02615.hp1 HG02630.hp2 HG02683.hp1 HG03195.hp2 HG03471.hp1 HG06807.hp2 NA19030.hp1 homoSapiens_chm13v2.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0015c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0008 a0001c0005t0001 a0015c0020t0002	a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0045 others(16): Show a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0205 a0001c0001t0001g0221 a0001c0001t0002g0192 a0001c0001t0003g0150 a0001c0001t0005g0039 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0127 a0001c0001t0005g0145 a0001c0003t0008g0118 a0001c0005t0001g0018 a0015c0020t0002g0202	19	236	0.0805	22	c.126 others(41): Show c.1263+3967_1263+3968insCTTTTTTTTTTTTTTTTTTTTT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15361546	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAGAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	236	0.0042	22	c.126 others(41): Show c.1263+3967_1263+3968insCTTTTTTTTTCTTTTTTTTTTT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15365380	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0003 a0006c0012t0003	a0006c0012t0003g0223 a0006c0012t0003g0223	1	236	0.0042	22	c.126 others(39): Show c.1263+133_1263+134insTTTTTTTTTTTTTTTTTTTTTT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15407232	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	236	0.0042	22	c.609 others(41): Show c.609+11325_609+11326insATATATATATATATATATATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	5/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15459599	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG01255.hp1 others(10): Show HG00323.hp2 HG00639.hp2 HG01255.hp1 HG02622.hp1 HG02735.hp2 HG02970.hp1 HG03098.hp1 HG03195.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0018 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0005t0001 a0001c0007t0001 a0001c0018t0001 a0003c0006t0001	a0001c0001t0001g0070 a0001c0001t0001g0130 a0001c0001t0001g0206 others(10): Show a0001c0001t0001g0070 a0001c0001t0001g0130 a0001c0001t0001g0206 a0001c0001t0003g0216 a0001c0003t0001g0041 a0001c0003t0001g0189 a0001c0003t0002g0188 a0001c0005t0001g0018 a0001c0007t0001g0015 a0001c0007t0001g0016 a0001c0007t0001g0017 a0001c0018t0001g0191 a0003c0006t0001g0207	13	236	0.0551	22	c.410 others(41): Show c.410-28513_410-28492dupCACACACACACACACACACACA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529533	A A	ATATATAT others(15): Show ATATATATATTCTATATATAGAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp2 HG03486.hp1 others(2): Show HG02717.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 others(2): Show a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0002c0002t0001g0060 a0002c0002t0001g0061	5	236	0.0212	22	c.409 others(41): Show c.409+15238_409+15239insCTCTATATATAGAATATATATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529534	T T	TATATATA others(15): Show TATATATATTCTATATATATAGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03710.hp2 HG04228.hp1 HG02132.hp2 HG03710.hp2 HG04228.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0016 a0001c0001 a0013c0016	a0001c0001t0001 a0001c0001t0010 a0013c0016t0005 a0001c0001t0001 a0001c0001t0010 a0013c0016t0005	a0001c0001t0001g0048 a0001c0001t0010g0147 a0013c0016t0005g0047 a0001c0001t0001g0048 a0001c0001t0010g0147 a0013c0016t0005g0047	3	236	0.0127	22	c.409 others(41): Show c.409+15216_409+15237dupTCTATATATATAGAATATATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15531535	C C	CTCTATAT others(15): Show CTCTATATATTCTATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19012.hp1 HG02056.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0126 a0001c0001t0002g0158 a0001c0001t0001g0126 a0001c0001t0002g0158	2	236	0.0085	22	c.409 others(41): Show c.409+13236_409+13237insATATATATATAGAATATATAGA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGPAT4_chr6_161124967_161279061	161228661	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18951.hp2 NA18974.hp2 others(2): Show HG00544.hp2 NA18951.hp2 NA18974.hp2 NA18985.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0008 a0001c0002t0004 others(1): Show a0001c0001t0005 a0001c0001t0008 a0001c0002t0004 a0001c0002t0023	a0001c0001t0005g0133 a0001c0001t0008g0092 a0001c0002t0004g0034 others(2): Show a0001c0001t0005g0133 a0001c0001t0008g0092 a0001c0002t0004g0034 a0001c0002t0004g0060 a0001c0002t0023g0050	5	264	0.0189	22	c.178 others(39): Show c.178+3374_178+3375insTTTTTTTTTTTTTTTTTTTTTT	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPS_chr2_177387773_177548834	177414897	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03453.hp2 HG06807.hp1 HG02818.hp1 HG03453.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0049 a0001c0001t0050 a0001c0001t0016 a0001c0001t0049 a0001c0001t0050	a0001c0001t0016g0212 a0001c0001t0049g0001 a0001c0001t0050g0001 a0001c0001t0016g0212 a0001c0001t0049g0001 a0001c0001t0050g0001	3	258	0.0116	22	c.261 others(39): Show c.261-5369_261-5348dupGTGTGTGTGTGTGTGTGTGTGT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGR3_chr7_16854412_16886983	16880112	C C	CCCTTCCT others(15): Show CCCTTCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0256 a0001c0002t0003g0256	1	458	0.0022	22	c.-27 others(39): Show c.-27-1468_-27-1467insAGAAGGAAGGAAGGAAGGAAGG	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	1/7			chr7	TogoVar
AGR3_chr7_16854412_16886983	16885081	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03540.hp2 HG03486.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0253 a0001c0002t0003g0256 a0001c0001t0001g0253 a0001c0002t0003g0256	2	458	0.0044	22	c.-31 others(33): Show c.-3166_-3165insTACACACACACACACACACACA	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding		3099		chr7	TogoVar
AGTRAP_chr1_11731136_11755769	11739092	G G	GGCAGGTC others(15): Show GGCAGGTCTGCGCTTTGGGGGCA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	420	0.0024	22	c.27+ others(37): Show c.27+2867_27+2868insGCTTTGGGGGCAGCAGGTCTGC	AGTRAP	ENSG00000177674.16	transcript	ENST00000314340.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGXT_chr2_240863824_240885500	240883699	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 NA18944.hp2 NA18952.hp2 others(3): Show HG00558.hp1 NA18944.hp2 NA18952.hp2 NA18979.hp1 NA19005.hp1 NA19087.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0006 a0002c0003 a0004c0006	a0002c0003t0005 a0004c0006t0005 a0002c0003t0005 a0004c0006t0005	a0002c0003t0005g0006 a0002c0003t0005g0020 a0002c0003t0005g0052 others(1): Show a0002c0003t0005g0006 a0002c0003t0005g0020 a0002c0003t0005g0052 a0004c0006t0005g0108	6	444	0.0135	22	c.48 others(33): Show c.4878_*4879insTTTTTTTTTTTTTTTTTTTTTT	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding		3200		chr2	TogoVar
AHCTF1_chr1_246834098_246936948	246931410	C C	CCCCCTCG others(15): Show CCCCCTCGAGCCCCATCCGTTGG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	376	0.0027	22	c.-8+ others(35): Show c.-8+146_-8+167dupCCAACGGATGGGGCTCGAGGGG	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	1/35			chr1	TogoVar
AHCYL2_chr7_129220030_129435211	129365628	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01515.hp2 HG01884.hp1 others(4): Show HG01168.hp1 HG01515.hp2 HG01884.hp1 HG02738.hp2 NA18969.hp1 NA18980.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0105 others(4): Show a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0002t0002g0001	7	292	0.0240	22	c.364 others(41): Show c.364-13993_364-13992insATATATATATATATATATATAT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129403860	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG04115.hp1 HG02273.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0033 a0001c0001t0011g0290 a0001c0001t0011g0033 a0001c0001t0011g0290	2	292	0.0069	22	c.102 others(39): Show c.1025+385_1025+406dupAAAAAAAAAAAAAAAAAAAAAA	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHDC1_chr1_27529245_27609144	27538400	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0065 a0003c0009t0002g0065	1	180	0.0056	22	c.44 others(39): Show c.44-3485_*44-3484insTTTTTTTTTTTTTTTTTTTTTT	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/8			chr1	TogoVar
AHDC1_chr1_27529245_27609144	27595450	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02809.hp1 HG01255.hp2 HG02809.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0002 a0001c0001t0003 a0002c0003t0002	a0001c0001t0003g0069 a0002c0003t0002g0062 a0001c0001t0003g0069 a0002c0003t0002g0062	2	180	0.0111	22	c.-62 others(41): Show c.-629+7946_-629+7947insCACACACACACACACACACACA	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	3/8			chr1	TogoVar
AHI1_chr6_135278532_135502740	135290913	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03540.hp2 HG02486.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0173 a0001c0001t0004g0051 a0001c0001t0002g0173 a0001c0001t0004g0051	2	220	0.0091	22	c.348 others(39): Show c.3486-410_3486-389dupGTGTGTGTGTGTGTGTGTGTGT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	27/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135482894	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02976.hp2 NA21309.hp1 HG00639.hp1 HG02976.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0018 a0002c0004 a0001c0001 a0001c0018 a0002c0004	a0001c0001t0004 a0001c0018t0007 a0002c0004t0002 a0001c0001t0004 a0001c0018t0007 a0002c0004t0002	a0001c0001t0004g0174 a0001c0018t0007g0175 a0002c0004t0002g0015 a0001c0001t0004g0174 a0001c0018t0007g0175 a0002c0004t0002g0015	3	220	0.0136	22	c.135 others(39): Show c.135+7728_135+7729insAAAAAAAAAAAAAAAAAAAAAA	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	5/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135490362	T T	TTGAGTTT others(15): Show TTGAGTTTCCCCACTATCTCTGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03098.hp1 HG02622.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0197 a0001c0001t0004g0198	2	220	0.0091	22	c.135 others(37): Show c.135+239_135+260dupCCAGAGATAGTGGGGAAACTCA	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	5/28			chr6	TogoVar
AHRR_chr5_316714_443285	340664	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	268	0.0037	22	c.-10 others(39): Show c.-10-3225_-10-3204dupATATATATATATATATATATAT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0119 a0002c0002t0026g0119	1	268	0.0037	22	c.-10 others(39): Show c.-10-3204_-10-3203insATATATATATATATATATTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	268	0.0037	22	c.-10 others(39): Show c.-10-3204_-10-3203insATATATATATATATATTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0014 a0004c0003t0014	a0004c0003t0014g0236 a0004c0003t0014g0236	1	268	0.0037	22	c.-10 others(39): Show c.-10-3204_-10-3203insATATATATATATTTTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHSA1_chr14_77453093_77474472	77468721	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0086 a0001c0005t0001g0086	1	308	0.0033	22	c.844 others(37): Show c.844+216_844+237dupTTTTTTTTTTTTTTTTTTTTTT	AHSA1	ENSG00000100591.8	transcript	ENST00000216479.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
AIDA_chr1_222663013_222717491	222689520	T T	TATATATA others(15): Show TATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	368	0.0027	22	c.290 others(39): Show c.290-1863_290-1862insGTATGTATATATATATATATAT	AIDA	ENSG00000186063.13	transcript	ENST00000340020.11	protein_coding	4/9			chr1	TogoVar
AIDA_chr1_222663013_222717491	222689520	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	368	0.0027	22	c.290 others(39): Show c.290-1863_290-1862insGTGTATATATATATATATATAT	AIDA	ENSG00000186063.13	transcript	ENST00000340020.11	protein_coding	4/9			chr1	TogoVar
AIG1_chr6_143055889_143346058	143171495	A A	AATATATA others(15): Show AATATATATTTAATATATATAAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0100 a0001c0001t0004g0100	1	204	0.0049	22	c.399 others(39): Show c.399+6333_399+6354dupATATATATATTTAATATATATA	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19004.hp1 HG01109.hp2 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0002 a0001c0002t0001 a0001c0008t0002	a0001c0002t0001g0133 a0001c0008t0002g0338 a0001c0002t0001g0133 a0001c0008t0002g0338	2	442	0.0045	22	c.135 others(37): Show c.135+477_135+478insAAAAAATATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAATA others(15): Show AAAAAATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0299	1	442	0.0023	22	c.135 others(37): Show c.135+477_135+478insAAAATATACATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAATATA others(15): Show AAAATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18964.hp1 NA18961.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	2	442	0.0045	22	c.135 others(37): Show c.135+477_135+478insAATATACATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18953.hp1 NA18747.hp2 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0205 a0001c0002t0001g0206	2	442	0.0045	22	c.135 others(37): Show c.135+477_135+478insAATATATATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6018968	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0210 a0006c0006t0001g0210	1	442	0.0023	22	c.574 others(37): Show c.574+925_574+946dupCACACACACACACACACACACA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar

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