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	distance	chr	external
AAAS_chr12_53302460_53326610	53325153	C C	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0017 a0001c0006t0001g0017	1	330	0.0030	0	c.-36 others(5): Show c.-3688G>T	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	3543	chr12	TogoVar
AAAS_chr12_53302460_53326610	53325158	C C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0017 a0001c0006t0001g0017	1	330	0.0030	0	c.-36 others(5): Show c.-3693G>C	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	3548	chr12	TogoVar
AAAS_chr12_53302460_53326610	53325181	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	330	0.0030	0	c.-37 others(5): Show c.-3716G>A	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	3571	chr12	TogoVar
AAAS_chr12_53302460_53326610	53325307	A A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	0	c.-38 others(5): Show c.-3842T>C	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	3697	chr12	TogoVar
AAAS_chr12_53302460_53326610	53325323	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02027.hp2 HG02083.hp2 others(6): Show HG01884.hp2 HG02027.hp2 HG02083.hp2 HG02135.hp2 HG02523.hp1 HG03669.hp1 HG04228.hp1 NA18747.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0043 a0001c0001t0001g0056 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0152	9	330	0.0273	0	c.-38 others(5): Show c.-3858C>T	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	3713	chr12	TogoVar
AAAS_chr12_53302460_53326610	53325490	A A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	330	0.0030	0	c.-40 others(5): Show c.-4025T>C	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	3880	chr12	TogoVar
AAAS_chr12_53302460_53326610	53325613	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02922.hp1 HG02257.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0050 a0001c0001t0001g0051	2	330	0.0061	0	c.-41 others(5): Show c.-4148G>A	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	4003	chr12	TogoVar
AAAS_chr12_53302460_53326610	53325618	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	330	0.0030	0	c.-41 others(5): Show c.-4153G>A	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	4008	chr12	TogoVar
AAAS_chr12_53302460_53326610	53325909	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	330	0.0030	0	c.-44 others(5): Show c.-4444C>T	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	4299	chr12	TogoVar
AAAS_chr12_53302460_53326610	53325967	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show HG01167.hp1 HG01169.hp1 HG02723.hp1 HG02723.hp2 HG03209.hp2 HG03471.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0002 a0002c0004t0001 a0002c0004t0002	a0002c0004t0001g0044 a0002c0004t0001g0156 a0002c0004t0002g0021 others(1): Show a0002c0004t0001g0044 a0002c0004t0001g0156 a0002c0004t0002g0021 a0002c0004t0002g0049	6	330	0.0182	0	c.-45 others(5): Show c.-4502G>A	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	4357	chr12	TogoVar
AAAS_chr12_53302460_53326610	53325991	C C	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG01074.hp1 others(9): Show HG00280.hp2 HG00639.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01891.hp1 HG02055.hp1 HG02896.hp2 HG03098.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0071 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0010t0001g0080	12	330	0.0364	0	c.-45 others(5): Show c.-4526G>T	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	4381	chr12	TogoVar
AAAS_chr12_53302460_53326610	53326010	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02083.hp2 HG02135.hp2 others(5): Show HG02027.hp2 HG02083.hp2 HG02135.hp2 HG02523.hp1 HG03669.hp1 HG04228.hp1 NA18747.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0043 a0001c0001t0001g0152 a0001c0001t0001g0007 a0001c0001t0001g0043 a0001c0001t0001g0152	8	330	0.0242	0	c.-45 others(5): Show c.-4545C>T	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	4400	chr12	TogoVar
AAAS_chr12_53302460_53326610	53326017	T T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	330	0.0030	0	c.-45 others(5): Show c.-4552A>G	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	4407	chr12	TogoVar
AAAS_chr12_53302460_53326610	53326128	ATTTTG ATTTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02886.hp2 HG03195.hp2 others(1): Show HG01891.hp2 HG02886.hp2 HG03195.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0041 a0001c0001t0001g0135 a0001c0001t0001g0136	4	330	0.0121	-5	c.-46 others(16): Show c.-4668_-4664delCAAAA	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	4519	chr12	TogoVar
AAAS_chr12_53302460_53326610	53326140	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02572.hp2 HG02647.hp2 others(5): Show HG01099.hp1 HG02572.hp2 HG02647.hp2 HG02895.hp2 HG03130.hp2 HG03516.hp2 HG03540.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0036 a0001c0002t0001g0062 others(3): Show a0001c0002t0001g0023 a0001c0002t0001g0036 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0130 a0001c0002t0001g0133	8	330	0.0242	0	c.-46 others(5): Show c.-4675C>T	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	4530	chr12	TogoVar
AAAS_chr12_53302460_53326610	53326208	T T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	330	0.0030	0	c.-47 others(5): Show c.-4743A>G	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	4598	chr12	TogoVar
AAAS_chr12_53302460_53326610	53326379	T T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02027.hp2 HG02083.hp2 others(10): Show HG01884.hp2 HG02027.hp2 HG02083.hp2 HG02135.hp2 HG02145.hp2 HG02523.hp1 HG02717.hp2 HG03195.hp1 HG03669.hp1 HG04228.hp1 NA18747.hp2 NA18985.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0043 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0152	13	330	0.0394	0	c.-49 others(5): Show c.-4914A>G	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	4769	chr12	TogoVar
AAAS_chr12_53302460_53326610	53326486	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	330	0.0030	0	c.-50 others(5): Show c.-5021C>T	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	4876	chr12	TogoVar
AAAS_chr12_53302460_53326610	53326604	A A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	330	0.0030	0	c.-51 others(5): Show c.-5139T>A	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	4994	chr12	TogoVar
AACS_chr12_125060435_125148316	125060598	T T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	364	0.0028	0	c.-49 others(5): Show c.-4987T>A	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	4837	chr12	TogoVar
AACS_chr12_125060435_125148316	125060683	G G	GA GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00558.hp1 others(66): Show HG00099.hp2 HG00323.hp1 HG00558.hp1 HG01071.hp1 HG01099.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01258.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp2 HG02738.hp2 HG02896.hp2 HG03017.hp1 HG03453.hp1 HG03927.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18979.hp1 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18997.hp2 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19055.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19087.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0004c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0004t0004 a0004c0018t0003	a0001c0001t0001g0005 a0001c0001t0001g0080 a0001c0001t0001g0275 others(65): Show a0001c0001t0001g0005 a0001c0001t0001g0080 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0315 a0001c0001t0001g0319 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0002g0040 a0001c0001t0002g0286 a0001c0001t0002g0293 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0316 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0344 a0001c0001t0002g0347 a0001c0001t0003g0276 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0292 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0324 a0001c0001t0003g0326 a0001c0001t0003g0330 a0001c0001t0005g0346 a0001c0003t0001g0342 a0001c0003t0001g0353 a0001c0004t0004g0328 a0004c0018t0003g0280	69	364	0.1896	1	c.-49 others(12): Show c.-4902_-4901insA	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	4751	chr12	TogoVar
AACS_chr12_125060435_125148316	125060853	C C	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0255 a0002c0025t0001g0255	1	364	0.0028	0	c.-47 others(5): Show c.-4732C>A	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	4582	chr12	TogoVar
AACS_chr12_125060435_125148316	125060979	A A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02109.hp2 others(12): Show HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02630.hp2 HG02723.hp2 HG02922.hp1 HG02970.hp1 HG03139.hp2 HG03471.hp1 HG03486.hp2 HG06807.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0002c0007 others(3): Show a0001c0001 a0002c0005 a0002c0007 a0002c0010 a0002c0011 a0002c0021	a0001c0001t0001 a0002c0005t0001 a0002c0007t0001 others(3): Show a0001c0001t0001 a0002c0005t0001 a0002c0007t0001 a0002c0010t0001 a0002c0011t0001 a0002c0021t0001	a0001c0001t0001g0028 a0002c0005t0001g0015 a0002c0005t0001g0019 others(12): Show a0001c0001t0001g0028 a0002c0005t0001g0015 a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027 a0002c0010t0001g0018 a0002c0011t0001g0014 a0002c0021t0001g0026	15	364	0.0412	0	c.-46 others(5): Show c.-4606A>G	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	4456	chr12	TogoVar
AACS_chr12_125060435_125148316	125061038	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0131	1	364	0.0028	0	c.-45 others(5): Show c.-4547C>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	4397	chr12	TogoVar
AACS_chr12_125060435_125148316	125061079	T T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18983.hp1 NA18943.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0174 a0001c0001t0002g0165 a0001c0001t0002g0174	2	364	0.0055	0	c.-45 others(5): Show c.-4506T>C	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	4356	chr12	TogoVar
AACS_chr12_125060435_125148316	125061282	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01081.hp1 HG01361.hp1 others(5): Show HG00733.hp1 HG01081.hp1 HG01361.hp1 HG01884.hp2 HG02723.hp1 HG02809.hp2 NA18906.hp1 NA20129.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0024 a0001c0001 a0002c0002 a0009c0024	a0001c0001t0001 a0002c0002t0001 a0009c0024t0001 a0001c0001t0001 a0002c0002t0001 a0009c0024t0001	a0001c0001t0001g0277 a0001c0001t0001g0278 a0002c0002t0001g0004 others(4): Show a0001c0001t0001g0277 a0001c0001t0001g0278 a0002c0002t0001g0004 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0009c0024t0001g0263	8	364	0.0220	0	c.-43 others(5): Show c.-4303G>A	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	4153	chr12	TogoVar
AACS_chr12_125060435_125148316	125061452	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	364	0.0028	0	c.-41 others(5): Show c.-4133C>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3983	chr12	TogoVar
AACS_chr12_125060435_125148316	125061481	T T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	364	0.0028	0	c.-41 others(5): Show c.-4104T>A	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3954	chr12	TogoVar
AACS_chr12_125060435_125148316	125061697	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	364	0.0028	0	c.-38 others(5): Show c.-3888G>A	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3738	chr12	TogoVar
AACS_chr12_125060435_125148316	125061728	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0021 a0002c0005t0001g0021	1	364	0.0028	0	c.-38 others(5): Show c.-3857C>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3707	chr12	TogoVar
AACS_chr12_125060435_125148316	125061760	G G	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG03579.hp2 others(1): Show HG01243.hp2 HG02145.hp2 HG03579.hp2 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0014 a0001c0001 a0005c0014	a0001c0001t0001 a0005c0014t0001 a0001c0001t0001 a0005c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0257 a0005c0014t0001g0339 a0001c0001t0001g0003 a0001c0001t0001g0257 a0005c0014t0001g0339	4	364	0.0110	0	c.-38 others(5): Show c.-3825G>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3675	chr12	TogoVar
AACS_chr12_125060435_125148316	125061822	G G	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	364	0.0028	0	c.-37 others(5): Show c.-3763G>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3613	chr12	TogoVar
AACS_chr12_125060435_125148316	125061870	C C	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02109.hp2 others(12): Show HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02630.hp2 HG02723.hp2 HG02922.hp1 HG02970.hp1 HG03139.hp2 HG03471.hp1 HG03486.hp2 HG06807.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0002c0007 others(3): Show a0001c0001 a0002c0005 a0002c0007 a0002c0010 a0002c0011 a0002c0021	a0001c0001t0001 a0002c0005t0001 a0002c0007t0001 others(3): Show a0001c0001t0001 a0002c0005t0001 a0002c0007t0001 a0002c0010t0001 a0002c0011t0001 a0002c0021t0001	a0001c0001t0001g0028 a0002c0005t0001g0015 a0002c0005t0001g0019 others(12): Show a0001c0001t0001g0028 a0002c0005t0001g0015 a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027 a0002c0010t0001g0018 a0002c0011t0001g0014 a0002c0021t0001g0026	15	364	0.0412	0	c.-37 others(5): Show c.-3715C>A	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3565	chr12	TogoVar
AACS_chr12_125060435_125148316	125061870	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0359 a0002c0002t0002g0359	1	364	0.0028	0	c.-37 others(5): Show c.-3715C>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3565	chr12	TogoVar
AACS_chr12_125060435_125148316	125061984	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 NA19240.hp1 HG02055.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0012 a0001c0001t0001g0013	2	364	0.0055	0	c.-36 others(5): Show c.-3601C>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3451	chr12	TogoVar
AACS_chr12_125060435_125148316	125062001	A A	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	364	0.0028	0	c.-35 others(5): Show c.-3584A>C	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3434	chr12	TogoVar
AACS_chr12_125060435_125148316	125062002	A A	AT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 NA18612.hp2 NA18949.hp1 others(3): Show HG02698.hp2 NA18612.hp2 NA18949.hp1 NA18981.hp1 NA18989.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0154 others(3): Show a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0003g0044 a0001c0001t0006g0199	6	364	0.0165	1	c.-35 others(12): Show c.-3583_-3582insT	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3432	chr12	TogoVar
AACS_chr12_125060435_125148316	125062024	TA TA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01943.hp1 HG01943.hp2 others(21): Show HG01258.hp2 HG01943.hp1 HG01943.hp2 HG02083.hp2 HG02135.hp1 HG03017.hp1 HG03453.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18952.hp1 NA18953.hp2 NA18966.hp2 NA18984.hp1 NA18992.hp1 NA18997.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19065.hp1 NA19065.hp2 NA19079.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0004t0004	a0001c0001t0001g0080 a0001c0001t0001g0275 a0001c0001t0001g0284 others(21): Show a0001c0001t0001g0080 a0001c0001t0001g0275 a0001c0001t0001g0284 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0300 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0345 a0001c0001t0002g0040 a0001c0001t0002g0286 a0001c0001t0002g0297 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0316 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0347 a0001c0001t0003g0326 a0001c0003t0001g0342 a0001c0004t0004g0328	24	364	0.0659	-1	c.-35 others(6): Show c.-3560delA	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3410	chr12	TogoVar
AACS_chr12_125060435_125148316	125062025	A A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0298 a0001c0001t0002g0298	1	364	0.0028	0	c.-35 others(5): Show c.-3560A>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3410	chr12	TogoVar
AACS_chr12_125060435_125148316	125062029	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00558.hp1 others(64): Show HG00099.hp2 HG00323.hp1 HG00558.hp1 HG01071.hp1 HG01099.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01258.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp2 HG02738.hp2 HG03017.hp1 HG03453.hp1 HG03927.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18979.hp1 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18997.hp2 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19055.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19087.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0004c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0004t0004 a0004c0018t0003	a0001c0001t0001g0005 a0001c0001t0001g0080 a0001c0001t0001g0275 others(63): Show a0001c0001t0001g0005 a0001c0001t0001g0080 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0315 a0001c0001t0001g0319 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0002g0040 a0001c0001t0002g0286 a0001c0001t0002g0293 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0316 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0344 a0001c0001t0002g0347 a0001c0001t0003g0276 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0292 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0324 a0001c0001t0003g0326 a0001c0001t0003g0330 a0001c0001t0005g0346 a0001c0003t0001g0342 a0001c0003t0001g0353 a0001c0004t0004g0328 a0004c0018t0003g0280	67	364	0.1841	0	c.-35 others(5): Show c.-3556C>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3406	chr12	TogoVar
AACS_chr12_125060435_125148316	125062029	CT CT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03516.hp1 NA18941.hp2 others(3): Show HG02257.hp2 HG03516.hp1 NA18941.hp2 NA18953.hp1 NA18980.hp1 NA19240.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0016 a0001c0001 a0002c0002 a0007c0016	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0007c0016t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0002g0058 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0002g0058 a0001c0001t0002g0183 a0002c0002t0001g0102 a0007c0016t0001g0032	6	364	0.0165	-1	c.-35 others(6): Show c.-3555delT	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3405	chr12	TogoVar
AACS_chr12_125060435_125148316	125062095	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG03471.hp2 NA19240.hp1 HG02055.hp2 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013	3	364	0.0082	0	c.-34 others(5): Show c.-3490C>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3340	chr12	TogoVar
AACS_chr12_125060435_125148316	125062177	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	364	0.0028	0	c.-34 others(5): Show c.-3408C>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3258	chr12	TogoVar
AACS_chr12_125060435_125148316	125062242	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG03579.hp2 others(1): Show HG01243.hp2 HG02145.hp2 HG03579.hp2 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0014 a0001c0001 a0005c0014	a0001c0001t0001 a0005c0014t0001 a0001c0001t0001 a0005c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0257 a0005c0014t0001g0339 a0001c0001t0001g0003 a0001c0001t0001g0257 a0005c0014t0001g0339	4	364	0.0110	0	c.-33 others(5): Show c.-3343G>A	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3193	chr12	TogoVar
AACS_chr12_125060435_125148316	125062391	A A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	364	0.0028	0	c.-31 others(5): Show c.-3194A>G	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3044	chr12	TogoVar
AACS_chr12_125060435_125148316	125062430	G G	GAAAAAC GAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02109.hp2 others(8): Show HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02630.hp2 HG02723.hp2 HG02922.hp1 HG02970.hp1 HG03486.hp2	a0002 a0002	a0002c0005 a0002c0007 a0002c0010 others(1): Show a0002c0005 a0002c0007 a0002c0010 a0002c0011	a0002c0005t0001 a0002c0007t0001 a0002c0010t0001 others(1): Show a0002c0005t0001 a0002c0007t0001 a0002c0010t0001 a0002c0011t0001	a0002c0005t0001g0015 a0002c0005t0001g0019 a0002c0005t0001g0020 others(8): Show a0002c0005t0001g0015 a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0007t0001g0016 a0002c0010t0001g0018 a0002c0011t0001g0014	11	364	0.0302	6	c.-31 others(17): Show c.-3155_-3154insAAAAAC	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3004	chr12	TogoVar
AACS_chr12_125060435_125148316	125062471	A A	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18979.hp2 NA18954.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0202 a0001c0001t0002g0185 a0001c0001t0002g0202	2	364	0.0055	0	c.-31 others(5): Show c.-3114A>C	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2964	chr12	TogoVar
AACS_chr12_125060435_125148316	125062628	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0001 a0009c0024t0001	a0009c0024t0001g0263 a0009c0024t0001g0263	1	364	0.0028	0	c.-29 others(5): Show c.-2957C>T	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2807	chr12	TogoVar
AACS_chr12_125060435_125148316	125062801	T T	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA19081.hp2 NA18959.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0343 a0001c0001t0001g0305 a0001c0001t0001g0343	2	364	0.0055	0	c.-27 others(5): Show c.-2784T>G	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2634	chr12	TogoVar
AACS_chr12_125060435_125148316	125062905	CT CT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01175.hp1 HG01258.hp1 others(3): Show HG01123.hp2 HG01175.hp1 HG01258.hp1 NA18992.hp2 NA19063.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0169 a0001c0001t0001g0190 a0001c0001t0001g0196 others(3): Show a0001c0001t0001g0169 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0207 a0001c0001t0001g0227 a0001c0001t0006g0336	6	364	0.0165	-1	c.-26 others(6): Show c.-2679delT	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2529	chr12	TogoVar

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