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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Select column to sort.

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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	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
AACS_chr12_125060435_125148316	125074825	G G	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01081.hp1 HG00733.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0277 a0001c0001t0001g0278	2	364	0.0055	c.237 others(7): Show c.237+846G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125074911	G G	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03209.hp1 HG03225.hp2 HG02258.hp2 HG03209.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0358 a0001c0003t0001g0354 a0001c0003t0001g0355 a0001c0001t0001g0358 a0001c0003t0001g0354 a0001c0003t0001g0355	3	364	0.0082	c.237 others(7): Show c.237+932G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125074956	G G	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00558.hp1 others(72): 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 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02717.hp1 HG02738.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03017.hp1 HG03516.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 a0006 a0001 a0004 a0006	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0004c0018 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0004t0004 a0001c0009t0001 a0004c0018t0003 a0006c0013t0001	a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0031 others(71): Show a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0031 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 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0346 a0001c0003t0001g0342 a0001c0003t0001g0353 a0001c0004t0004g0328 a0001c0009t0001g0348 a0001c0009t0001g0349 a0004c0018t0003g0280 a0006c0013t0001g0350	75	364	0.2060	c.237 others(7): Show c.237+977G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125075044	G G	A A	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	364	0.0028	c.237 others(8): Show c.237+1065G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125075131	C C	T T	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	364	0.0028	c.237 others(8): Show c.237+1152C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125075155	A A	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03710.hp2 HG03491.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0335 a0001c0001t0001g0228 a0001c0001t0001g0335	2	364	0.0055	c.237 others(8): Show c.237+1176A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125075276	G G	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02015.hp1 HG02080.hp1 others(11): Show HG00558.hp2 HG02015.hp1 HG02080.hp1 HG02129.hp2 NA18943.hp1 NA18959.hp1 NA18977.hp1 NA18980.hp2 NA18983.hp1 NA18988.hp1 NA18999.hp1 NA19005.hp1 NA19080.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0020 a0001c0001 a0001c0003 a0001c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0020t0002	a0001c0001t0001g0172 a0001c0001t0002g0101 a0001c0001t0002g0165 others(11): Show a0001c0001t0001g0172 a0001c0001t0002g0101 a0001c0001t0002g0165 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0231 a0001c0001t0003g0179 a0001c0003t0001g0236 a0001c0020t0002g0173	14	364	0.0385	c.238 others(8): Show c.238-1215G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125075346	G G	A A	intron_variant intron_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	c.238 others(8): Show c.238-1145G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125075523	C C	T T	intron_variant intron_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	c.238 others(7): Show c.238-968C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125075534	C C	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00544.hp1 others(112): Show HG00099.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02451.hp1 HG02615.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp2 HG03491.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18942.hp2 NA18943.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18971.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18997.hp1 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19063.hp1 NA19063.hp2 NA19067.hp2 NA19068.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19087.hp2 NA20752.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0001c0017 a0001c0020 a0003c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0003t0001 a0001c0003t0009 a0001c0004t0001 a0001c0004t0004 a0001c0008t0001 a0001c0008t0002 a0001c0012t0004 a0001c0017t0002 a0001c0020t0002 a0003c0019t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0097 others(111): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0251 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0002g0002 a0001c0001t0002g0101 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0240 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0003g0179 a0001c0001t0003g0219 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0110 a0001c0001t0005g0192 a0001c0001t0006g0186 a0001c0001t0006g0197 a0001c0001t0006g0198 a0001c0001t0006g0199 a0001c0001t0006g0224 a0001c0001t0006g0336 a0001c0001t0008g0208 a0001c0001t0010g0194 a0001c0001t0011g0108 a0001c0003t0001g0168 a0001c0003t0001g0210 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0256 a0001c0003t0001g0262 a0001c0003t0001g0338 a0001c0003t0009g0189 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0004g0167 a0001c0004t0004g0209 a0001c0004t0004g0237 a0001c0004t0004g0241 a0001c0004t0004g0242 a0001c0004t0004g0243 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0249 a0001c0004t0004g0250 a0001c0004t0004g0254 a0001c0004t0004g0341 a0001c0008t0001g0211 a0001c0008t0002g0238 a0001c0012t0004g0244 a0001c0017t0002g0204 a0001c0020t0002g0173 a0003c0019t0001g0184	115	364	0.3159	c.238 others(7): Show c.238-957C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125075590	C C	G G	intron_variant intron_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	c.238 others(7): Show c.238-901C>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125075648	C C	T T	intron_variant intron_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	c.238 others(7): Show c.238-843C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125075722	C C	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00558.hp1 others(68): 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 HG02717.hp1 HG02738.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03017.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 a0006 a0001 a0004 a0006	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0004c0018 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0004t0004 a0001c0009t0001 a0004c0018t0003 a0006c0013t0001	a0001c0001t0001g0005 a0001c0001t0001g0275 a0001c0001t0001g0281 others(67): Show a0001c0001t0001g0005 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 a0001c0009t0001g0348 a0001c0009t0001g0349 a0004c0018t0003g0280 a0006c0013t0001g0350	71	364	0.1951	c.238 others(7): Show c.238-769C>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125075725	C C	T T	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0353 a0001c0003t0001g0353	1	364	0.0028	c.238 others(7): Show c.238-766C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125075738	C C	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0225 a0001c0003t0001g0225	1	364	0.0028	c.238 others(7): Show c.238-753C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125075796	G G	A A	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	364	0.0028	c.238 others(7): Show c.238-695G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125075828	G G	A A	intron_variant intron_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	c.238 others(7): Show c.238-663G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125075996	C C	T T	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA19081.hp1 NA18959.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0231 a0001c0001t0002g0180 a0001c0001t0002g0231	2	364	0.0055	c.238 others(7): Show c.238-495C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125076148	C C	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp1 HG00639.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0224 a0001c0001t0006g0336 a0001c0001t0006g0224 a0001c0001t0006g0336	2	364	0.0055	c.238 others(7): Show c.238-343C>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125076150	C C	T T	intron_variant intron_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	c.238 others(7): Show c.238-341C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125076174	A A	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00544.hp1 others(112): Show HG00099.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02451.hp1 HG02615.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp2 HG03491.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18942.hp2 NA18943.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18971.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18997.hp1 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19063.hp1 NA19063.hp2 NA19067.hp2 NA19068.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19087.hp2 NA20752.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0001c0017 a0001c0020 a0003c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0003t0001 a0001c0003t0009 a0001c0004t0001 a0001c0004t0004 a0001c0008t0001 a0001c0008t0002 a0001c0012t0004 a0001c0017t0002 a0001c0020t0002 a0003c0019t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0097 others(111): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0251 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0002g0002 a0001c0001t0002g0101 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0240 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0003g0179 a0001c0001t0003g0219 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0110 a0001c0001t0005g0192 a0001c0001t0006g0186 a0001c0001t0006g0197 a0001c0001t0006g0198 a0001c0001t0006g0199 a0001c0001t0006g0224 a0001c0001t0006g0336 a0001c0001t0008g0208 a0001c0001t0010g0194 a0001c0001t0011g0108 a0001c0003t0001g0168 a0001c0003t0001g0210 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0256 a0001c0003t0001g0262 a0001c0003t0001g0338 a0001c0003t0009g0189 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0004g0167 a0001c0004t0004g0209 a0001c0004t0004g0237 a0001c0004t0004g0241 a0001c0004t0004g0242 a0001c0004t0004g0243 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0249 a0001c0004t0004g0250 a0001c0004t0004g0254 a0001c0004t0004g0341 a0001c0008t0001g0211 a0001c0008t0002g0238 a0001c0012t0004g0244 a0001c0017t0002g0204 a0001c0020t0002g0173 a0003c0019t0001g0184	115	364	0.3159	c.238 others(7): Show c.238-317A>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125076203	T T	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG00738.hp1 others(82): Show HG00621.hp2 HG00642.hp2 HG00738.hp1 HG01069.hp2 HG01175.hp2 HG01243.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18964.hp1 NA18967.hp2 NA18971.hp2 NA18973.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp2 NA18993.hp2 NA19002.hp2 NA19004.hp1 NA19011.hp2 NA19012.hp1 NA19066.hp2 NA19068.hp1 NA19078.hp1 NA19084.hp2 NA19090.hp2 NA20129.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0008 a0009 others(1): Show a0002 a0008 a0009 a0010	a0002c0002 a0002c0005 a0002c0006 others(9): Show a0002c0002 a0002c0005 a0002c0006 a0002c0007 a0002c0010 a0002c0011 a0002c0021 a0002c0025 a0002c0026 a0008c0023 a0009c0024 a0010c0022	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(14): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0005t0001 a0002c0006t0001 a0002c0007t0001 a0002c0010t0001 a0002c0011t0001 a0002c0021t0001 a0002c0025t0001 a0002c0026t0001 a0008c0023t0003 a0009c0024t0001 a0010c0022t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0006 others(80): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0102 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0121 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0137 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0002g0125 a0002c0002t0002g0359 a0002c0002t0003g0120 a0002c0002t0005g0096 a0002c0002t0006g0136 a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0002t0007g0279 a0002c0005t0001g0015 a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0006t0001g0122 a0002c0006t0001g0123 a0002c0006t0001g0138 a0002c0006t0001g0149 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027 a0002c0010t0001g0018 a0002c0011t0001g0014 a0002c0021t0001g0026 a0002c0025t0001g0255 a0002c0026t0001g0145 a0008c0023t0003g0119 a0009c0024t0001g0263 a0010c0022t0001g0128	85	364	0.2335	c.238 others(7): Show c.238-288T>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125076400	C C	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	364	0.0028	c.238 others(6): Show c.238-91C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	2/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125076572	C C	A A	synonymous_variant synonymous_variant	LOW	HG01884.hp1 HG01891.hp1 HG02109.hp2 others(7): Show HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02451.hp2 HG02486.hp2 HG02630.hp2 HG02723.hp2 HG02922.hp1 HG02970.hp1 HG03486.hp2	a0002 a0002	a0002c0005 a0002c0010 a0002c0011 a0002c0005 a0002c0010 a0002c0011	a0002c0005t0001 a0002c0010t0001 a0002c0011t0001 a0002c0005t0001 a0002c0010t0001 a0002c0011t0001	a0002c0005t0001g0015 a0002c0005t0001g0019 a0002c0005t0001g0020 others(7): Show a0002c0005t0001g0015 a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0010t0001g0018 a0002c0011t0001g0014	10	364	0.0275	c.319 others(3): Show c.319C>A	p.Arg others(6): Show p.Arg107Arg	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/18	469/3256	319/2019	107/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125076605	A A	G G	missense_variant missense_variant	MODERATE	HG00621.hp2 HG00642.hp2 HG00738.hp1 others(83): Show HG00621.hp2 HG00642.hp2 HG00738.hp1 HG01069.hp2 HG01175.hp2 HG01243.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18964.hp1 NA18967.hp2 NA18971.hp2 NA18973.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp2 NA18993.hp2 NA19002.hp2 NA19004.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19066.hp2 NA19068.hp1 NA19078.hp1 NA19084.hp2 NA19090.hp2 NA20129.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0008 a0009 others(1): Show a0002 a0008 a0009 a0010	a0002c0002 a0002c0005 a0002c0006 others(9): Show a0002c0002 a0002c0005 a0002c0006 a0002c0007 a0002c0010 a0002c0011 a0002c0021 a0002c0025 a0002c0026 a0008c0023 a0009c0024 a0010c0022	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(14): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0005t0001 a0002c0006t0001 a0002c0007t0001 a0002c0010t0001 a0002c0011t0001 a0002c0021t0001 a0002c0025t0001 a0002c0026t0001 a0008c0023t0003 a0009c0024t0001 a0010c0022t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0006 others(81): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0075 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0102 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0121 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0137 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0002g0125 a0002c0002t0002g0359 a0002c0002t0003g0120 a0002c0002t0005g0096 a0002c0002t0006g0136 a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0002t0007g0279 a0002c0005t0001g0015 a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0006t0001g0122 a0002c0006t0001g0123 a0002c0006t0001g0138 a0002c0006t0001g0149 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027 a0002c0010t0001g0018 a0002c0011t0001g0014 a0002c0021t0001g0026 a0002c0025t0001g0255 a0002c0026t0001g0145 a0008c0023t0003g0119 a0009c0024t0001g0263 a0010c0022t0001g0128	86	364	0.2363	c.352 others(3): Show c.352A>G	p.Ile others(6): Show p.Ile118Val	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/18	502/3256	352/2019	118/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125076646	G G	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	364	0.0028	c.358 others(6): Show c.358+35G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125076656	T T	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA20905.hp1 HG02602.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0111 a0002c0002t0001g0267 a0002c0002t0001g0111 a0002c0002t0001g0267	2	364	0.0055	c.358 others(6): Show c.358+45T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125076682	A A	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0246 a0001c0004t0004g0246	1	364	0.0028	c.358 others(6): Show c.358+71A>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125076739	G G	A A	intron_variant intron_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	c.358 others(7): Show c.358+128G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125076749	G G	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02922.hp2 HG03453.hp2 others(2): Show HG02896.hp2 HG02922.hp2 HG03453.hp2 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 others(2): Show a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0287 a0001c0001t0005g0048	5	364	0.0137	c.358 others(7): Show c.358+138G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125076976	T T	G G	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0098 a0001c0004t0004g0098	1	364	0.0028	c.358 others(7): Show c.358+365T>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125076988	G G	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG00738.hp1 others(51): Show HG00621.hp2 HG00642.hp2 HG00738.hp1 HG01069.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01993.hp1 HG02257.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG03041.hp1 HG03098.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG04184.hp2 HG04204.hp1 NA18939.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18964.hp1 NA18967.hp2 NA18971.hp2 NA18973.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp2 NA18993.hp2 NA19002.hp2 NA19004.hp1 NA19011.hp2 NA19012.hp1 NA19066.hp2 NA19068.hp1 NA19078.hp1 NA19084.hp2 NA19090.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0008 a0010 a0002 a0008 a0010	a0002c0002 a0002c0006 a0002c0026 others(2): Show a0002c0002 a0002c0006 a0002c0026 a0008c0023 a0010c0022	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0006t0001 a0002c0026t0001 a0008c0023t0003 a0010c0022t0001	a0002c0002t0001g0001 a0002c0002t0001g0102 a0002c0002t0001g0111 others(50): Show a0002c0002t0001g0001 a0002c0002t0001g0102 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0121 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0002g0125 a0002c0002t0002g0359 a0002c0002t0003g0120 a0002c0002t0006g0136 a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0002t0007g0279 a0002c0006t0001g0122 a0002c0006t0001g0123 a0002c0006t0001g0138 a0002c0006t0001g0149 a0002c0026t0001g0145 a0008c0023t0003g0119 a0010c0022t0001g0128	54	364	0.1484	c.358 others(7): Show c.358+377G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125077003	G G	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	364	0.0028	c.358 others(7): Show c.358+392G>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125077012	A A	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	364	0.0028	c.358 others(7): Show c.358+401A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125077285	C C	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03490.hp1 HG04204.hp1 HG01891.hp2 HG03490.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0268 a0002c0002t0001g0001 a0002c0002t0001g0268	3	364	0.0082	c.358 others(7): Show c.358+674C>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125077338	G G	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0224 a0001c0001t0006g0224	1	364	0.0028	c.358 others(7): Show c.358+727G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125077347	G G	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03704.hp2 others(1): Show HG03491.hp2 HG03492.hp2 HG03704.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 others(1): Show a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0002t0007g0279	4	364	0.0110	c.358 others(7): Show c.358+736G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125077359	T T	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03704.hp2 others(1): Show HG03491.hp2 HG03492.hp2 HG03704.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 others(1): Show a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0002t0007g0279	4	364	0.0110	c.358 others(7): Show c.358+748T>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125077367	A A	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03704.hp2 others(1): Show HG03491.hp2 HG03492.hp2 HG03704.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 others(1): Show a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0002t0007g0279	4	364	0.0110	c.358 others(7): Show c.358+756A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125077435	A A	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02735.hp2 HG03017.hp2 others(3): Show HG00642.hp1 HG02735.hp2 HG03017.hp2 HG03491.hp1 HG03710.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0258 a0001c0001t0001g0259 others(3): Show a0001c0001t0001g0228 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0335	6	364	0.0165	c.358 others(7): Show c.358+824A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125077494	A A	C C	intron_variant intron_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	c.358 others(7): Show c.358+883A>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125077499	G G	T T	intron_variant intron_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	c.358 others(7): Show c.358+888G>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125077534	G G	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01081.hp1 HG00733.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0277 a0001c0001t0001g0278	2	364	0.0055	c.358 others(7): Show c.358+923G>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125077585	T T	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00558.hp1 others(72): 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 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02717.hp1 HG02738.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03017.hp1 HG03516.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 a0006 a0001 a0004 a0006	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0004c0018 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0004t0004 a0001c0009t0001 a0004c0018t0003 a0006c0013t0001	a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0031 others(71): Show a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0031 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 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0346 a0001c0003t0001g0342 a0001c0003t0001g0353 a0001c0004t0004g0328 a0001c0009t0001g0348 a0001c0009t0001g0349 a0004c0018t0003g0280 a0006c0013t0001g0350	75	364	0.2060	c.358 others(7): Show c.358+974T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125077621	C C	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00544.hp1 others(112): Show HG00099.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02451.hp1 HG02615.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp2 HG03491.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18942.hp2 NA18943.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18971.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18997.hp1 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19063.hp1 NA19063.hp2 NA19067.hp2 NA19068.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19087.hp2 NA20752.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0001c0017 a0001c0020 a0003c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0003t0001 a0001c0003t0009 a0001c0004t0001 a0001c0004t0004 a0001c0008t0001 a0001c0008t0002 a0001c0012t0004 a0001c0017t0002 a0001c0020t0002 a0003c0019t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0097 others(111): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0251 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0002g0002 a0001c0001t0002g0101 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0240 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0003g0179 a0001c0001t0003g0219 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0110 a0001c0001t0005g0192 a0001c0001t0006g0186 a0001c0001t0006g0197 a0001c0001t0006g0198 a0001c0001t0006g0199 a0001c0001t0006g0224 a0001c0001t0006g0336 a0001c0001t0008g0208 a0001c0001t0010g0194 a0001c0001t0011g0108 a0001c0003t0001g0168 a0001c0003t0001g0210 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0256 a0001c0003t0001g0262 a0001c0003t0001g0338 a0001c0003t0009g0189 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0004g0167 a0001c0004t0004g0209 a0001c0004t0004g0237 a0001c0004t0004g0241 a0001c0004t0004g0242 a0001c0004t0004g0243 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0249 a0001c0004t0004g0250 a0001c0004t0004g0254 a0001c0004t0004g0341 a0001c0008t0001g0211 a0001c0008t0002g0238 a0001c0012t0004g0244 a0001c0017t0002g0204 a0001c0020t0002g0173 a0003c0019t0001g0184	115	364	0.3159	c.358 others(8): Show c.358+1010C>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125077707	C C	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0048 a0001c0001t0005g0048	1	364	0.0028	c.358 others(8): Show c.358+1096C>A		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125077866	T T	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01081.hp1 HG02055.hp2 others(2): Show HG00733.hp1 HG01081.hp1 HG02055.hp2 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0277 a0001c0001t0001g0278	5	364	0.0137	c.358 others(8): Show c.358+1255T>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125077883	A A	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01081.hp1 HG00733.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0277 a0001c0001t0001g0278	2	364	0.0055	c.358 others(8): Show c.358+1272A>G		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125077936	T T	C C	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0141 a0002c0002t0001g0141	1	364	0.0028	c.358 others(8): Show c.358+1325T>C		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar
AACS_chr12_125060435_125148316	125077943	A A	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0001 a0002c0021t0001	a0002c0021t0001g0026 a0002c0021t0001g0026	1	364	0.0028	c.358 others(8): Show c.358+1332A>T		AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/17				chr12	TogoVar

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