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
ACSF2_chr17_50421218_50479837	50474547	C C	A A	missense_variant missense_variant	MODERATE	HG02970.hp1 HG02970.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0210 a0007c0010t0001g0210	1	320	0.0031	c.184 others(4): Show c.1843C>A	p.Leu others(6): Show p.Leu615Met	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding	16/16	1887/2177	1843/1848	615/615	chr17	TogoVar
ACSF3_chr16_89088852_89161233	89100686	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18961.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0007 a0011 a0012	a0001c0001 a0001c0005 a0001c0014 others(7): Show a0001c0001 a0001c0005 a0001c0014 a0001c0018 a0004c0004 a0005c0009 a0005c0017 a0007c0013 a0011c0016 a0012c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0001c0001t0051 a0001c0001t0060 a0001c0001t0061 a0001c0005t0001 a0001c0005t0009 a0001c0005t0011 a0001c0014t0024 a0001c0018t0011 a0004c0004t0003 a0004c0004t0022 a0004c0004t0025 a0004c0004t0031 a0004c0004t0037 a0004c0004t0038 a0005c0009t0011 a0005c0009t0015 a0005c0009t0034 a0005c0009t0039 a0005c0009t0053 a0005c0017t0035 a0007c0013t0001 a0011c0016t0002 a0012c0015t0009	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0084 others(215): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0155 a0001c0001t0001g0196 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0220 a0001c0001t0002g0227 a0001c0001t0010g0002 a0001c0001t0010g0166 a0001c0001t0010g0168 a0001c0001t0010g0169 a0001c0001t0010g0173 a0001c0001t0010g0176 a0001c0001t0010g0177 a0001c0001t0010g0218 a0001c0001t0010g0219 a0001c0001t0010g0221 a0001c0001t0010g0222 a0001c0001t0012g0007 a0001c0001t0012g0008 a0001c0001t0012g0009 a0001c0001t0012g0010 a0001c0001t0012g0033 a0001c0001t0012g0034 a0001c0001t0012g0272 a0001c0001t0013g0040 a0001c0001t0013g0041 a0001c0001t0013g0042 a0001c0001t0013g0043 a0001c0001t0013g0105 a0001c0001t0013g0273 a0001c0001t0015g0100 a0001c0001t0016g0241 a0001c0001t0016g0242 a0001c0001t0017g0006 a0001c0001t0017g0251 a0001c0001t0018g0099 a0001c0001t0018g0102 a0001c0001t0023g0274 a0001c0001t0026g0006 a0001c0001t0027g0216 a0001c0001t0028g0101 a0001c0001t0029g0243 a0001c0001t0030g0357 a0001c0001t0032g0267 a0001c0001t0033g0271 a0001c0001t0036g0247 a0001c0001t0051g0303 a0001c0001t0060g0320 a0001c0001t0061g0260 a0001c0005t0001g0035 a0001c0005t0001g0036 a0001c0005t0001g0037 a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0005t0001g0248 a0001c0005t0001g0249 a0001c0005t0001g0300 a0001c0005t0001g0302 a0001c0005t0001g0330 a0001c0005t0001g0331 a0001c0005t0009g0199 a0001c0005t0009g0246 a0001c0005t0009g0250 a0001c0005t0009g0296 a0001c0005t0009g0297 a0001c0005t0009g0298 a0001c0005t0009g0308 a0001c0005t0009g0309 a0001c0005t0009g0327 a0001c0005t0009g0328 a0001c0005t0009g0353 a0001c0005t0011g0311 a0001c0005t0011g0312 a0001c0005t0011g0313 a0001c0005t0011g0314 a0001c0005t0011g0321 a0001c0005t0011g0322 a0001c0005t0011g0323 a0001c0005t0011g0326 a0001c0014t0024g0319 a0001c0018t0011g0261 a0004c0004t0003g0005 a0004c0004t0003g0014 a0004c0004t0003g0215 a0004c0004t0003g0223 a0004c0004t0003g0229 a0004c0004t0003g0230 a0004c0004t0003g0231 a0004c0004t0003g0233 a0004c0004t0003g0234 a0004c0004t0003g0304 a0004c0004t0003g0306 a0004c0004t0003g0307 a0004c0004t0003g0332 a0004c0004t0003g0333 a0004c0004t0003g0334 a0004c0004t0003g0335 a0004c0004t0003g0336 a0004c0004t0003g0337 a0004c0004t0003g0339 a0004c0004t0003g0340 a0004c0004t0003g0341 a0004c0004t0003g0342 a0004c0004t0003g0344 a0004c0004t0003g0345 a0004c0004t0003g0346 a0004c0004t0003g0347 a0004c0004t0003g0348 a0004c0004t0003g0349 a0004c0004t0022g0103 a0004c0004t0025g0338 a0004c0004t0031g0232 a0004c0004t0037g0013 a0004c0004t0038g0343 a0005c0009t0011g0310 a0005c0009t0015g0258 a0005c0009t0034g0360 a0005c0009t0039g0032 a0005c0009t0053g0217 a0005c0017t0035g0359 a0007c0013t0001g0280 a0007c0013t0001g0292 a0011c0016t0002g0163 a0012c0015t0009g0329	221	368	0.6005	c.5T> others(1): Show c.5T>C	p.Leu others(4): Show p.Leu2Pro	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	3/11	343/4095	5/1731	2/576	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89100730	G G	C C	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00544.hp2 HG00558.hp2 others(31): Show HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG02015.hp2 HG02083.hp2 HG02132.hp2 HG03490.hp2 HG03491.hp2 HG03927.hp1 HG04199.hp2 NA18612.hp1 NA18941.hp1 NA18949.hp2 NA18950.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18980.hp1 NA18981.hp2 NA18992.hp1 NA18994.hp1 NA19003.hp2 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19074.hp2 NA19080.hp1 NA19084.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0022 a0004c0004t0025 others(3): Show a0004c0004t0003 a0004c0004t0022 a0004c0004t0025 a0004c0004t0031 a0004c0004t0037 a0004c0004t0038	a0004c0004t0003g0005 a0004c0004t0003g0014 a0004c0004t0003g0215 others(30): Show a0004c0004t0003g0005 a0004c0004t0003g0014 a0004c0004t0003g0215 a0004c0004t0003g0223 a0004c0004t0003g0229 a0004c0004t0003g0230 a0004c0004t0003g0231 a0004c0004t0003g0233 a0004c0004t0003g0234 a0004c0004t0003g0304 a0004c0004t0003g0306 a0004c0004t0003g0307 a0004c0004t0003g0332 a0004c0004t0003g0333 a0004c0004t0003g0334 a0004c0004t0003g0335 a0004c0004t0003g0336 a0004c0004t0003g0337 a0004c0004t0003g0339 a0004c0004t0003g0340 a0004c0004t0003g0341 a0004c0004t0003g0342 a0004c0004t0003g0344 a0004c0004t0003g0345 a0004c0004t0003g0346 a0004c0004t0003g0347 a0004c0004t0003g0348 a0004c0004t0003g0349 a0004c0004t0022g0103 a0004c0004t0025g0338 a0004c0004t0031g0232 a0004c0004t0037g0013 a0004c0004t0038g0343	34	368	0.0924	c.49G others(2): Show c.49G>C	p.Ala others(5): Show p.Ala17Pro	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	3/11	387/4095	49/1731	17/576	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89101072	G G	A A	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02280.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0020 a0010c0019t0020	a0010c0019t0020g0244 a0010c0019t0020g0244	1	368	0.0027	c.391 others(3): Show c.391G>A	p.Ala others(6): Show p.Ala131Thr	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	3/11	729/4095	391/1731	131/576	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89101281	C C	G G	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02572.hp1	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0004 a0009c0024t0004	a0009c0024t0004g0117 a0009c0024t0004g0117	1	368	0.0027	c.600 others(3): Show c.600C>G	p.Ile others(6): Show p.Ile200Met	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	3/11	938/4095	600/1731	200/576	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89114475	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18945.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18961.hp1 NA18961.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0007 others(4): Show a0001 a0003 a0007 a0008 a0010 a0011 a0012	a0001c0001 a0001c0005 a0001c0014 others(10): Show a0001c0001 a0001c0005 a0001c0014 a0001c0018 a0003c0006 a0003c0007 a0003c0008 a0003c0010 a0007c0013 a0008c0022 a0010c0019 a0011c0016 a0012c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0001c0001t0051 a0001c0001t0060 a0001c0001t0061 a0001c0005t0001 a0001c0005t0009 a0001c0005t0011 a0001c0014t0024 a0001c0018t0011 a0003c0006t0007 a0003c0006t0048 a0003c0006t0059 a0003c0007t0007 a0003c0008t0008 a0003c0008t0020 a0003c0008t0047 a0003c0008t0049 a0003c0010t0004 a0003c0010t0008 a0003c0010t0058 a0007c0013t0001 a0008c0022t0007 a0010c0019t0020 a0011c0016t0002 a0012c0015t0009	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0084 others(212): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0155 a0001c0001t0001g0196 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0220 a0001c0001t0002g0227 a0001c0001t0010g0002 a0001c0001t0010g0166 a0001c0001t0010g0168 a0001c0001t0010g0169 a0001c0001t0010g0173 a0001c0001t0010g0176 a0001c0001t0010g0177 a0001c0001t0010g0218 a0001c0001t0010g0219 a0001c0001t0010g0221 a0001c0001t0010g0222 a0001c0001t0012g0007 a0001c0001t0012g0008 a0001c0001t0012g0009 a0001c0001t0012g0010 a0001c0001t0012g0033 a0001c0001t0012g0034 a0001c0001t0012g0272 a0001c0001t0013g0040 a0001c0001t0013g0041 a0001c0001t0013g0042 a0001c0001t0013g0043 a0001c0001t0013g0105 a0001c0001t0013g0273 a0001c0001t0015g0100 a0001c0001t0016g0241 a0001c0001t0016g0242 a0001c0001t0017g0006 a0001c0001t0017g0251 a0001c0001t0018g0099 a0001c0001t0018g0102 a0001c0001t0023g0274 a0001c0001t0026g0006 a0001c0001t0027g0216 a0001c0001t0028g0101 a0001c0001t0029g0243 a0001c0001t0030g0357 a0001c0001t0032g0267 a0001c0001t0033g0271 a0001c0001t0036g0247 a0001c0001t0051g0303 a0001c0001t0060g0320 a0001c0001t0061g0260 a0001c0005t0001g0035 a0001c0005t0001g0036 a0001c0005t0001g0037 a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0005t0001g0248 a0001c0005t0001g0249 a0001c0005t0001g0300 a0001c0005t0001g0302 a0001c0005t0001g0330 a0001c0005t0001g0331 a0001c0005t0009g0199 a0001c0005t0009g0246 a0001c0005t0009g0250 a0001c0005t0009g0296 a0001c0005t0009g0297 a0001c0005t0009g0298 a0001c0005t0009g0308 a0001c0005t0009g0309 a0001c0005t0009g0327 a0001c0005t0009g0328 a0001c0005t0009g0353 a0001c0005t0011g0311 a0001c0005t0011g0312 a0001c0005t0011g0313 a0001c0005t0011g0314 a0001c0005t0011g0321 a0001c0005t0011g0322 a0001c0005t0011g0323 a0001c0005t0011g0326 a0001c0014t0024g0319 a0001c0018t0011g0261 a0003c0006t0007g0001 a0003c0006t0007g0017 a0003c0006t0007g0044 a0003c0006t0007g0050 a0003c0006t0007g0051 a0003c0006t0007g0053 a0003c0006t0007g0054 a0003c0006t0007g0055 a0003c0006t0007g0057 a0003c0006t0007g0067 a0003c0006t0007g0068 a0003c0006t0007g0069 a0003c0006t0007g0106 a0003c0006t0048g0056 a0003c0006t0059g0350 a0003c0007t0007g0045 a0003c0007t0007g0046 a0003c0007t0007g0047 a0003c0007t0007g0048 a0003c0007t0007g0049 a0003c0007t0007g0064 a0003c0007t0007g0092 a0003c0007t0007g0093 a0003c0007t0007g0094 a0003c0008t0008g0031 a0003c0008t0008g0058 a0003c0008t0008g0059 a0003c0008t0020g0245 a0003c0008t0047g0012 a0003c0008t0049g0052 a0003c0010t0004g0129 a0003c0010t0004g0130 a0003c0010t0008g0120 a0003c0010t0058g0154 a0007c0013t0001g0280 a0007c0013t0001g0292 a0008c0022t0007g0063 a0010c0019t0020g0244 a0011c0016t0002g0163 a0012c0015t0009g0329	218	368	0.5924	c.111 others(4): Show c.1114G>A	p.Val others(6): Show p.Val372Met	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	6/11	1452/4095	1114/1731	372/576	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89133239	C C	T T	missense_variant missense_variant	MODERATE	HG02015.hp1 HG02015.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0002 a0011c0016t0002	a0011c0016t0002g0163 a0011c0016t0002g0163	1	368	0.0027	c.134 others(4): Show c.1343C>T	p.Thr others(6): Show p.Thr448Ile	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/11	1681/4095	1343/1731	448/576	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89145306	G G	A A	missense_variant missense_variant	MODERATE	HG03239.hp2 HG03239.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0009 a0012c0015t0009	a0012c0015t0009g0329 a0012c0015t0009g0329	1	368	0.0027	c.140 others(4): Show c.1406G>A	p.Arg others(6): Show p.Arg469Gln	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	9/11	1744/4095	1406/1731	469/576	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89145356	G G	A A	missense_variant missense_variant	MODERATE	NA18940.hp1 NA18945.hp2 NA19085.hp2 NA18940.hp1 NA18945.hp2 NA19085.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0006 a0006c0012t0006	a0006c0012t0006g0204 a0006c0012t0006g0205 a0006c0012t0006g0206 a0006c0012t0006g0204 a0006c0012t0006g0205 a0006c0012t0006g0206	3	368	0.0082	c.145 others(4): Show c.1456G>A	p.Ala others(6): Show p.Ala486Thr	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	9/11	1794/4095	1456/1731	486/576	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89145998	C C	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0007 a0008c0022t0007	a0008c0022t0007g0063 a0008c0022t0007g0063	1	368	0.0027	c.156 others(4): Show c.1562C>G	p.Thr others(6): Show p.Thr521Ser	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/11	1900/4095	1562/1731	521/576	chr16	TogoVar
ACSL1_chr4_184750595_184830968	184773859	T T	A A	missense_variant missense_variant	MODERATE	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0337 a0002c0011t0001g0337	1	392	0.0026	c.773 others(3): Show c.773A>T	p.Asn others(6): Show p.Asn258Ile	ACSL1	ENSG00000151726.16	transcript	ENST00000281455.7	protein_coding	8/21	858/3712	773/2097	258/698	chr4	TogoVar
ACSL1_chr4_184750595_184830968	184776913	T T	C C	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0152 a0003c0012t0002g0152	1	392	0.0026	c.548 others(3): Show c.548A>G	p.Asn others(6): Show p.Asn183Ser	ACSL1	ENSG00000151726.16	transcript	ENST00000281455.7	protein_coding	6/21	633/3712	548/2097	183/698	chr4	TogoVar
ACSL3_chr2_222856036_222949639	222919163	A A	G G	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0022 a0004c0005t0022	a0004c0005t0022g0205 a0004c0005t0022g0205	1	252	0.0040	c.766 others(3): Show c.766A>G	p.Met others(6): Show p.Met256Val	ACSL3	ENSG00000123983.15	transcript	ENST00000357430.8	protein_coding	7/17	1195/5577	766/2163	256/720	chr2	TogoVar
ACSL3_chr2_222856036_222949639	222919191	A A	G G	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0010 a0003c0004t0003g0010	1	252	0.0040	c.794 others(3): Show c.794A>G	p.Lys others(6): Show p.Lys265Arg	ACSL3	ENSG00000123983.15	transcript	ENST00000357430.8	protein_coding	7/17	1223/5577	794/2163	265/720	chr2	TogoVar
ACSL3_chr2_222856036_222949639	222934623	G G	C C	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0012 a0002c0003t0020g0012	1	252	0.0040	c.194 others(4): Show c.1941G>C	p.Glu others(6): Show p.Glu647Asp	ACSL3	ENSG00000123983.15	transcript	ENST00000357430.8	protein_coding	16/17	2370/5577	1941/2163	647/720	chr2	TogoVar
ACSL4_chrX_109636335_109738257	109681124	C C	G G	missense_variant missense_variant	MODERATE	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	222	0.0045	c.529 others(3): Show c.529G>C	p.Asp others(6): Show p.Asp177His	ACSL4	ENSG00000068366.21	transcript	ENST00000672401.1	protein_coding	6/16	713/4891	529/2013	177/670	chrX	TogoVar
ACSL4_chrX_109636335_109738257	109683296	T T	C C	missense_variant missense_variant	MODERATE	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0057 a0003c0004t0001g0057	1	222	0.0045	c.68A others(2): Show c.68A>G	p.His others(5): Show p.His23Arg	ACSL4	ENSG00000068366.21	transcript	ENST00000672401.1	protein_coding	3/16	252/4891	68/2013	23/670	chrX	TogoVar
ACSL5_chr10_112369116_112433376	112394996	T T	C C	missense_variant missense_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0002 a0008c0007t0002	a0008c0007t0002g0309 a0008c0007t0002g0309	1	364	0.0028	c.50T others(2): Show c.50T>C	p.Leu others(5): Show p.Leu17Ser	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	2/21	233/3253	50/2052	17/683	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112409518	A A	G G	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00544.hp2 HG01074.hp1 others(24): Show HG00323.hp2 HG00544.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01928.hp2 HG02055.hp2 HG02129.hp2 HG02293.hp2 NA18939.hp1 NA18948.hp1 NA18953.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18981.hp2 NA18985.hp2 NA19004.hp2 NA19011.hp2 NA19012.hp1 NA19066.hp2 NA19081.hp2 NA19082.hp1 NA19088.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0041 a0002c0002t0003g0002 a0002c0002t0003g0037 others(23): Show a0002c0002t0001g0041 a0002c0002t0003g0002 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0061	27	364	0.0742	c.544 others(3): Show c.544A>G	p.Met others(6): Show p.Met182Val	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	7/21	727/3253	544/2052	182/683	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112410599	G G	A A	missense_variant missense_variant	MODERATE	NA18906.hp1 NA18906.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0328 a0007c0008t0002g0328	1	364	0.0028	c.760 others(3): Show c.760G>A	p.Asp others(6): Show p.Asp254Asn	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	9/21	943/3253	760/2052	254/683	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112413225	G G	A A	missense_variant missense_variant	MODERATE	HG01255.hp1 HG01255.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0185 a0005c0009t0001g0185	1	364	0.0028	c.100 others(4): Show c.1001G>A	p.Arg others(6): Show p.Arg334Gln	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	12/21	1184/3253	1001/2052	334/683	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112413273	C C	T T	missense_variant missense_variant	MODERATE	HG04199.hp2 HG04199.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0077 a0006c0011t0001g0077	1	364	0.0028	c.104 others(4): Show c.1049C>T	p.Ala others(6): Show p.Ala350Val	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	12/21	1232/3253	1049/2052	350/683	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112417858	G G	A A	missense_variant missense_variant	MODERATE	HG01433.hp1 HG02451.hp2 HG01433.hp1 HG02451.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0062 a0004c0006t0001g0086 a0004c0006t0001g0062 a0004c0006t0001g0086	2	364	0.0055	c.123 others(4): Show c.1231G>A	p.Gly others(6): Show p.Gly411Arg	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	14/21	1414/3253	1231/2052	411/683	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112422015	A A	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG03130.hp1 HG03579.hp1 others(2): Show HG02896.hp1 HG03130.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp1	a0003 a0007 a0003 a0007	a0003c0004 a0007c0008 a0003c0004 a0007c0008	a0003c0004t0002 a0007c0008t0002 a0003c0004t0002 a0007c0008t0002	a0003c0004t0002g0327 a0003c0004t0002g0329 a0003c0004t0002g0330 others(2): Show a0003c0004t0002g0327 a0003c0004t0002g0329 a0003c0004t0002g0330 a0003c0004t0002g0347 a0007c0008t0002g0328	5	364	0.0137	c.145 others(4): Show c.1456A>G	p.Thr others(6): Show p.Thr486Ala	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	16/21	1639/3253	1456/2052	486/683	chr10	TogoVar
ACSL6_chr5_131944973_132016658	131966417	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0004 a0004c0008t0004	a0004c0008t0004g0119 a0004c0008t0004g0119	1	326	0.0031	c.171 others(4): Show c.1712C>T	p.Pro others(6): Show p.Pro571Leu	ACSL6	ENSG00000164398.15	transcript	ENST00000651883.2	protein_coding	17/21	1817/6535	1712/2169	571/722	chr5	TogoVar
ACSL6_chr5_131944973_132016658	131990934	A A	C C	missense_variant missense_variant	MODERATE	NA18974.hp1 NA18974.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0207 a0003c0005t0002g0207	1	326	0.0031	c.304 others(3): Show c.304T>G	p.Ser others(6): Show p.Ser102Ala	ACSL6	ENSG00000164398.15	transcript	ENST00000651883.2	protein_coding	3/21	409/6535	304/2169	102/722	chr5	TogoVar
ACSL6_chr5_131944973_132016658	131990952	G G	A A	missense_variant missense_variant	MODERATE	HG00639.hp2 HG00639.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0003 a0005c0010t0003	a0005c0010t0003g0138 a0005c0010t0003g0138	1	326	0.0031	c.286 others(3): Show c.286C>T	p.Arg others(5): Show p.Arg96Trp	ACSL6	ENSG00000164398.15	transcript	ENST00000651883.2	protein_coding	3/21	391/6535	286/2169	96/722	chr5	TogoVar
ACSL6_chr5_131944973_132016658	131994159	G G	A A	missense_variant missense_variant	MODERATE	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0107 a0002c0011t0002g0107	1	326	0.0031	c.142 others(3): Show c.142C>T	p.Arg others(5): Show p.Arg48Cys	ACSL6	ENSG00000164398.15	transcript	ENST00000651883.2	protein_coding	2/21	247/6535	142/2169	48/722	chr5	TogoVar
ACSM1_chr16_20618235_20702680	20625515	T T	C C	missense_variant missense_variant	MODERATE	HG01496.hp1 NA18906.hp2 HG01496.hp1 NA18906.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0249 a0005c0010t0002g0277 a0005c0010t0002g0249 a0005c0010t0002g0277	2	318	0.0063	c.143 others(4): Show c.1435A>G	p.Ile others(6): Show p.Ile479Val	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	12/14	1531/2081	1435/1734	479/577	chr16	TogoVar
ACSM1_chr16_20618235_20702680	20627316	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02615.hp2 HG02896.hp1 HG02615.hp2 HG02896.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0082 a0006c0009t0001g0101 a0006c0009t0001g0082 a0006c0009t0001g0101	2	318	0.0063	c.130 others(4): Show c.1300G>A	p.Gly others(6): Show p.Gly434Ser	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	11/14	1396/2081	1300/1734	434/577	chr16	TogoVar
ACSM1_chr16_20618235_20702680	20669907	T T	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02055.hp1 HG02109.hp1 others(8): Show HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02647.hp1 HG02818.hp1 HG02895.hp1 HG02922.hp2 HG03540.hp1	a0002 a0004 a0002 a0004	a0002c0004 a0004c0013 a0004c0014 a0002c0004 a0004c0013 a0004c0014	a0002c0004t0001 a0004c0013t0001 a0004c0014t0002 a0002c0004t0001 a0004c0013t0001 a0004c0014t0002	a0002c0004t0001g0079 a0002c0004t0001g0080 a0002c0004t0001g0081 others(8): Show a0002c0004t0001g0079 a0002c0004t0001g0080 a0002c0004t0001g0081 a0002c0004t0001g0083 a0002c0004t0001g0084 a0002c0004t0001g0085 a0002c0004t0001g0099 a0002c0004t0001g0270 a0002c0004t0001g0288 a0004c0013t0001g0281 a0004c0014t0002g0068	11	318	0.0346	c.832 others(3): Show c.832A>T	p.Thr others(6): Show p.Thr278Ser	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	6/14	928/2081	832/1734	278/577	chr16	TogoVar
ACSM1_chr16_20618235_20702680	20669966	T T	C C	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02109.hp1 HG02280.hp2 others(6): Show HG01884.hp2 HG02109.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02647.hp1 HG02895.hp1 HG02922.hp2 HG03540.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0079 a0002c0004t0001g0080 a0002c0004t0001g0081 others(6): Show a0002c0004t0001g0079 a0002c0004t0001g0080 a0002c0004t0001g0081 a0002c0004t0001g0083 a0002c0004t0001g0084 a0002c0004t0001g0085 a0002c0004t0001g0099 a0002c0004t0001g0270 a0002c0004t0001g0288	9	318	0.0283	c.773 others(3): Show c.773A>G	p.Lys others(6): Show p.Lys258Arg	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	6/14	869/2081	773/1734	258/577	chr16	TogoVar
ACSM1_chr16_20618235_20702680	20682341	C C	G G	missense_variant missense_variant	MODERATE	HG00280.hp2 HG01071.hp2 HG01123.hp1 HG00280.hp2 HG01071.hp2 HG01123.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0116 a0003c0006t0001g0117 a0003c0006t0001g0150 a0003c0006t0001g0116 a0003c0006t0001g0117 a0003c0006t0001g0150	3	318	0.0094	c.526 others(3): Show c.526G>C	p.Ala others(6): Show p.Ala176Pro	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/14	622/2081	526/1734	176/577	chr16	TogoVar
ACSM1_chr16_20618235_20702680	20682445	G G	A A	missense_variant missense_variant	MODERATE	NA19010.hp2 NA19010.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0002 a0009c0015t0002	a0009c0015t0002g0258 a0009c0015t0002g0258	1	318	0.0031	c.422 others(3): Show c.422C>T	p.Ala others(6): Show p.Ala141Val	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/14	518/2081	422/1734	141/577	chr16	TogoVar
ACSM1_chr16_20618235_20702680	20685237	C C	G G	missense_variant missense_variant	MODERATE	HG01361.hp1 HG01361.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0272 a0008c0012t0001g0272	1	318	0.0031	c.359 others(3): Show c.359G>C	p.Arg others(6): Show p.Arg120Pro	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	3/14	455/2081	359/1734	120/577	chr16	TogoVar
ACSM1_chr16_20618235_20702680	20685295	C C	T T	missense_variant missense_variant	MODERATE	HG02886.hp1 HG02886.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0229 a0007c0011t0002g0229	1	318	0.0031	c.301 others(3): Show c.301G>A	p.Val others(6): Show p.Val101Ile	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	3/14	397/2081	301/1734	101/577	chr16	TogoVar
ACSM1_chr16_20618235_20702680	20691101	G G	A A	missense_variant missense_variant	MODERATE	HG00609.hp2 HG00609.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0071 a0010c0017t0001g0071	1	318	0.0031	c.88C others(2): Show c.88C>T	p.Arg others(5): Show p.Arg30Trp	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	2/14	184/2081	88/1734	30/577	chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20460128	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00408.hp2 HG00438.hp1 others(92): Show HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00609.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01243.hp2 HG01358.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG02027.hp2 HG02071.hp2 HG02080.hp1 HG02135.hp1 HG02165.hp1 HG02735.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18974.hp1 NA18979.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp1 NA20905.hp1	a0002 a0012 a0013 others(2): Show a0002 a0012 a0013 a0014 a0015	a0002c0002 a0002c0022 a0012c0013 others(3): Show a0002c0002 a0002c0022 a0012c0013 a0013c0021 a0014c0020 a0015c0019	a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 others(13): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0014 a0002c0002t0015 a0002c0002t0017 a0002c0002t0018 a0002c0002t0021 a0002c0002t0022 a0002c0022t0003 a0012c0013t0002 a0013c0021t0002 a0014c0020t0003 a0015c0019t0003	a0002c0002t0002g0199 a0002c0002t0002g0204 a0002c0002t0002g0219 others(79): Show a0002c0002t0002g0199 a0002c0002t0002g0204 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0234 a0002c0002t0002g0255 a0002c0002t0002g0380 a0002c0002t0003g0002 a0002c0002t0003g0004 a0002c0002t0003g0010 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0028 a0002c0002t0003g0029 a0002c0002t0003g0177 a0002c0002t0003g0194 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0003g0201 a0002c0002t0003g0203 a0002c0002t0003g0205 a0002c0002t0003g0206 a0002c0002t0003g0208 a0002c0002t0003g0211 a0002c0002t0003g0213 a0002c0002t0003g0214 a0002c0002t0003g0215 a0002c0002t0003g0216 a0002c0002t0003g0217 a0002c0002t0003g0218 a0002c0002t0003g0223 a0002c0002t0003g0224 a0002c0002t0003g0226 a0002c0002t0003g0227 a0002c0002t0003g0228 a0002c0002t0003g0230 a0002c0002t0003g0231 a0002c0002t0003g0233 a0002c0002t0003g0237 a0002c0002t0003g0238 a0002c0002t0003g0239 a0002c0002t0003g0240 a0002c0002t0003g0242 a0002c0002t0003g0243 a0002c0002t0003g0244 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0257 a0002c0002t0003g0260 a0002c0002t0003g0261 a0002c0002t0003g0262 a0002c0002t0003g0263 a0002c0002t0003g0264 a0002c0002t0003g0265 a0002c0002t0003g0266 a0002c0002t0003g0267 a0002c0002t0003g0268 a0002c0002t0003g0377 a0002c0002t0007g0241 a0002c0002t0008g0009 a0002c0002t0008g0193 a0002c0002t0008g0207 a0002c0002t0008g0209 a0002c0002t0008g0210 a0002c0002t0009g0259 a0002c0002t0014g0025 a0002c0002t0015g0010 a0002c0002t0015g0256 a0002c0002t0017g0235 a0002c0002t0018g0200 a0002c0002t0021g0232 a0002c0002t0022g0195 a0002c0022t0003g0225 a0012c0013t0002g0229 a0012c0013t0002g0236 a0013c0021t0002g0212 a0014c0020t0003g0002 a0015c0019t0003g0010	95	436	0.2179	c.14G others(2): Show c.14G>A	p.Arg others(4): Show p.Arg5Gln	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	2/14	183/2894	14/1734	5/577	chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20460139	G G	A A	missense_variant missense_variant	MODERATE	HG03942.hp2 HG03942.hp2	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0003 a0015c0019t0003	a0015c0019t0003g0010 a0015c0019t0003g0010	1	436	0.0023	c.25G others(2): Show c.25G>A	p.Gly others(4): Show p.Gly9Arg	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	2/14	194/2894	25/1734	9/577	chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20460165	G G	C C	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02258.hp1 HG02818.hp2 others(4): Show HG02109.hp2 HG02258.hp1 HG02818.hp2 HG03041.hp2 HG03486.hp2 HG06807.hp2 NA19030.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0006 a0009c0009t0001 a0009c0009t0006	a0009c0009t0001g0167 a0009c0009t0006g0023 a0009c0009t0006g0154 others(3): Show a0009c0009t0001g0167 a0009c0009t0006g0023 a0009c0009t0006g0154 a0009c0009t0006g0156 a0009c0009t0006g0165 a0009c0009t0006g0166	7	436	0.0161	c.51G others(2): Show c.51G>C	p.Gln others(5): Show p.Gln17His	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	2/14	220/2894	51/1734	17/577	chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20465530	T T	C C	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(261): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(9): Show a0002 a0003 a0004 a0006 a0009 a0011 a0012 a0014 a0015 a0019 a0020 a0021	a0002c0002 a0002c0022 a0003c0003 others(16): Show a0002c0002 a0002c0022 a0003c0003 a0003c0010 a0003c0015 a0003c0023 a0003c0026 a0004c0004 a0004c0014 a0006c0006 a0006c0016 a0009c0009 a0011c0011 a0012c0013 a0014c0020 a0015c0019 a0019c0024 a0020c0027 a0021c0025	a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 others(38): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0014 a0002c0002t0015 a0002c0002t0017 a0002c0002t0018 a0002c0002t0021 a0002c0002t0022 a0002c0022t0003 a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0003t0007 a0003c0003t0009 a0003c0003t0012 a0003c0010t0001 a0003c0010t0006 a0003c0015t0001 a0003c0023t0002 a0003c0026t0007 a0004c0004t0002 a0004c0004t0013 a0004c0014t0001 a0006c0006t0002 a0006c0006t0003 a0006c0006t0009 a0006c0006t0019 a0006c0016t0002 a0009c0009t0001 a0009c0009t0006 a0011c0011t0005 a0011c0011t0007 a0012c0013t0002 a0014c0020t0003 a0015c0019t0003 a0019c0024t0002 a0020c0027t0020 a0021c0025t0005	a0002c0002t0002g0199 a0002c0002t0002g0204 a0002c0002t0002g0219 others(233): Show a0002c0002t0002g0199 a0002c0002t0002g0204 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0234 a0002c0002t0002g0255 a0002c0002t0002g0380 a0002c0002t0003g0002 a0002c0002t0003g0004 a0002c0002t0003g0010 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0028 a0002c0002t0003g0029 a0002c0002t0003g0177 a0002c0002t0003g0194 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0003g0201 a0002c0002t0003g0203 a0002c0002t0003g0205 a0002c0002t0003g0206 a0002c0002t0003g0208 a0002c0002t0003g0211 a0002c0002t0003g0213 a0002c0002t0003g0214 a0002c0002t0003g0215 a0002c0002t0003g0216 a0002c0002t0003g0217 a0002c0002t0003g0218 a0002c0002t0003g0223 a0002c0002t0003g0224 a0002c0002t0003g0226 a0002c0002t0003g0227 a0002c0002t0003g0228 a0002c0002t0003g0230 a0002c0002t0003g0231 a0002c0002t0003g0233 a0002c0002t0003g0237 a0002c0002t0003g0238 a0002c0002t0003g0239 a0002c0002t0003g0240 a0002c0002t0003g0242 a0002c0002t0003g0243 a0002c0002t0003g0244 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0257 a0002c0002t0003g0260 a0002c0002t0003g0261 a0002c0002t0003g0262 a0002c0002t0003g0263 a0002c0002t0003g0264 a0002c0002t0003g0265 a0002c0002t0003g0266 a0002c0002t0003g0267 a0002c0002t0003g0268 a0002c0002t0003g0377 a0002c0002t0007g0241 a0002c0002t0008g0009 a0002c0002t0008g0193 a0002c0002t0008g0207 a0002c0002t0008g0209 a0002c0002t0008g0210 a0002c0002t0009g0259 a0002c0002t0014g0025 a0002c0002t0015g0010 a0002c0002t0015g0256 a0002c0002t0017g0235 a0002c0002t0018g0200 a0002c0002t0021g0232 a0002c0002t0022g0195 a0002c0022t0003g0225 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0037 a0003c0003t0002g0173 a0003c0003t0002g0174 a0003c0003t0002g0250 a0003c0003t0002g0272 a0003c0003t0002g0277 a0003c0003t0002g0282 a0003c0003t0002g0283 a0003c0003t0002g0284 a0003c0003t0002g0288 a0003c0003t0002g0294 a0003c0003t0002g0305 a0003c0003t0002g0306 a0003c0003t0002g0307 a0003c0003t0002g0308 a0003c0003t0002g0310 a0003c0003t0002g0314 a0003c0003t0002g0319 a0003c0003t0002g0331 a0003c0003t0002g0332 a0003c0003t0002g0339 a0003c0003t0002g0340 a0003c0003t0002g0342 a0003c0003t0002g0345 a0003c0003t0002g0355 a0003c0003t0002g0357 a0003c0003t0002g0370 a0003c0003t0002g0371 a0003c0003t0002g0375 a0003c0003t0003g0035 a0003c0003t0003g0196 a0003c0003t0003g0202 a0003c0003t0003g0251 a0003c0003t0003g0252 a0003c0003t0003g0253 a0003c0003t0003g0254 a0003c0003t0003g0303 a0003c0003t0003g0351 a0003c0003t0005g0030 a0003c0003t0005g0031 a0003c0003t0005g0175 a0003c0003t0005g0176 a0003c0003t0005g0258 a0003c0003t0005g0285 a0003c0003t0005g0286 a0003c0003t0005g0287 a0003c0003t0005g0378 a0003c0003t0007g0011 a0003c0003t0007g0249 a0003c0003t0007g0271 a0003c0003t0009g0309 a0003c0003t0012g0171 a0003c0003t0012g0172 a0003c0010t0001g0158 a0003c0010t0001g0159 a0003c0010t0001g0161 a0003c0010t0001g0162 a0003c0010t0006g0163 a0003c0010t0006g0164 a0003c0015t0001g0150 a0003c0015t0001g0151 a0003c0023t0002g0341 a0003c0026t0007g0170 a0004c0004t0002g0003 a0004c0004t0002g0032 a0004c0004t0002g0269 a0004c0004t0002g0279 a0004c0004t0002g0281 a0004c0004t0002g0289 a0004c0004t0002g0290 a0004c0004t0002g0292 a0004c0004t0002g0293 a0004c0004t0002g0295 a0004c0004t0002g0296 a0004c0004t0002g0297 a0004c0004t0002g0298 a0004c0004t0002g0299 a0004c0004t0002g0300 a0004c0004t0002g0301 a0004c0004t0002g0302 a0004c0004t0002g0304 a0004c0004t0002g0312 a0004c0004t0002g0313 a0004c0004t0002g0315 a0004c0004t0002g0316 a0004c0004t0002g0317 a0004c0004t0002g0318 a0004c0004t0002g0320 a0004c0004t0002g0321 a0004c0004t0002g0322 a0004c0004t0002g0323 a0004c0004t0002g0324 a0004c0004t0002g0325 a0004c0004t0002g0326 a0004c0004t0002g0327 a0004c0004t0002g0328 a0004c0004t0002g0329 a0004c0004t0002g0330 a0004c0004t0002g0333 a0004c0004t0002g0334 a0004c0004t0002g0335 a0004c0004t0002g0336 a0004c0004t0002g0337 a0004c0004t0002g0372 a0004c0004t0002g0376 a0004c0004t0013g0278 a0004c0004t0013g0379 a0004c0014t0001g0157 a0004c0014t0001g0160 a0006c0006t0002g0036 a0006c0006t0002g0037 a0006c0006t0002g0270 a0006c0006t0002g0338 a0006c0006t0002g0343 a0006c0006t0002g0347 a0006c0006t0002g0348 a0006c0006t0002g0349 a0006c0006t0002g0350 a0006c0006t0002g0353 a0006c0006t0002g0354 a0006c0006t0002g0361 a0006c0006t0002g0362 a0006c0006t0002g0363 a0006c0006t0002g0364 a0006c0006t0002g0365 a0006c0006t0002g0366 a0006c0006t0002g0367 a0006c0006t0002g0368 a0006c0006t0002g0369 a0006c0006t0003g0012 a0006c0006t0003g0035 a0006c0006t0003g0352 a0006c0006t0003g0359 a0006c0006t0003g0373 a0006c0006t0009g0346 a0006c0006t0009g0356 a0006c0006t0009g0374 a0006c0006t0019g0344 a0006c0016t0002g0358 a0006c0016t0002g0360 a0009c0009t0001g0167 a0009c0009t0006g0023 a0009c0009t0006g0154 a0009c0009t0006g0156 a0009c0009t0006g0165 a0009c0009t0006g0166 a0011c0011t0005g0274 a0011c0011t0005g0275 a0011c0011t0005g0276 a0011c0011t0007g0273 a0012c0013t0002g0229 a0012c0013t0002g0236 a0014c0020t0003g0002 a0015c0019t0003g0010 a0019c0024t0002g0311 a0020c0027t0020g0280 a0021c0025t0005g0291	264	436	0.6055	c.191 others(3): Show c.191T>C	p.Leu others(5): Show p.Leu64Pro	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	3/14	360/2894	191/1734	64/577	chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20465571	G G	A A	missense_variant missense_variant	MODERATE	HG03490.hp1 HG03492.hp1 HG03927.hp1 others(1): Show HG03490.hp1 HG03492.hp1 HG03927.hp1 HG04184.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0014 a0010c0012t0001g0051 a0010c0012t0001g0052 a0010c0012t0001g0014 a0010c0012t0001g0051 a0010c0012t0001g0052	4	436	0.0092	c.232 others(3): Show c.232G>A	p.Glu others(5): Show p.Glu78Lys	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	3/14	401/2894	232/1734	78/577	chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20465652	C C	T T	missense_variant missense_variant	MODERATE	HG02145.hp2 HG03130.hp2 NA19043.hp2 others(1): Show HG02145.hp2 HG03130.hp2 NA19043.hp2 NA20300.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0005 a0011c0011t0007 a0011c0011t0005 a0011c0011t0007	a0011c0011t0005g0274 a0011c0011t0005g0275 a0011c0011t0005g0276 others(1): Show a0011c0011t0005g0274 a0011c0011t0005g0275 a0011c0011t0005g0276 a0011c0011t0007g0273	4	436	0.0092	c.313 others(3): Show c.313C>T	p.Arg others(6): Show p.Arg105Cys	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	3/14	482/2894	313/1734	105/577	chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20465673	G G	A A	missense_variant missense_variant	MODERATE	NA19075.hp1 NA19075.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0002 a0013c0021t0002	a0013c0021t0002g0212 a0013c0021t0002g0212	1	436	0.0023	c.334 others(3): Show c.334G>A	p.Val others(6): Show p.Val112Met	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	3/14	503/2894	334/1734	112/577	chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20469575	T T	A A	missense_variant missense_variant	MODERATE	NA19062.hp1 NA19062.hp1	a0019 a0019	a0019c0024 a0019c0024	a0019c0024t0002 a0019c0024t0002	a0019c0024t0002g0311 a0019c0024t0002g0311	1	436	0.0023	c.452 others(3): Show c.452T>A	p.Met others(6): Show p.Met151Lys	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	4/14	621/2894	452/1734	151/577	chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20471605	G G	C C	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03491.hp1	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0001 a0016c0028t0001	a0016c0028t0001g0092 a0016c0028t0001g0092	1	436	0.0023	c.810 others(3): Show c.810G>C	p.Leu others(6): Show p.Leu270Phe	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	6/14	979/2894	810/1734	270/577	chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20471606	T T	G G	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0021 a0021	a0021c0025 a0021c0025	a0021c0025t0005 a0021c0025t0005	a0021c0025t0005g0291 a0021c0025t0005g0291	1	436	0.0023	c.811 others(3): Show c.811T>G	p.Cys others(6): Show p.Cys271Gly	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	6/14	980/2894	811/1734	271/577	chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20480604	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp2 HG01496.hp1 HG01934.hp1 others(9): Show HG01109.hp2 HG01496.hp1 HG01934.hp1 HG02451.hp1 HG02723.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03516.hp1 NA19030.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0011 a0007c0007t0023 others(1): Show a0007c0007t0001 a0007c0007t0011 a0007c0007t0023 a0007c0007t0028	a0007c0007t0001g0005 a0007c0007t0001g0068 a0007c0007t0001g0082 others(8): Show a0007c0007t0001g0005 a0007c0007t0001g0068 a0007c0007t0001g0082 a0007c0007t0001g0083 a0007c0007t0001g0101 a0007c0007t0001g0102 a0007c0007t0001g0103 a0007c0007t0011g0005 a0007c0007t0011g0085 a0007c0007t0023g0104 a0007c0007t0028g0105	12	436	0.0275	c.131 others(4): Show c.1313G>A	p.Arg others(6): Show p.Arg438Gln	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	11/14	1482/2894	1313/1734	438/577	chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20480678	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(394): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0020 a0021	a0001c0001 a0001c0017 a0001c0018 others(24): Show a0001c0001 a0001c0017 a0001c0018 a0002c0002 a0002c0022 a0003c0003 a0003c0010 a0003c0015 a0003c0023 a0003c0026 a0004c0004 a0004c0014 a0006c0006 a0006c0016 a0007c0007 a0008c0008 a0009c0009 a0011c0011 a0012c0013 a0013c0021 a0014c0020 a0015c0019 a0016c0028 a0017c0030 a0019c0024 a0020c0027 a0021c0025	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(56): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0017t0001 a0001c0018t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0014 a0002c0002t0015 a0002c0002t0017 a0002c0002t0018 a0002c0002t0021 a0002c0002t0022 a0002c0022t0003 a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0003t0007 a0003c0003t0009 a0003c0003t0012 a0003c0010t0001 a0003c0010t0006 a0003c0015t0001 a0003c0023t0002 a0003c0026t0007 a0004c0004t0002 a0004c0004t0013 a0004c0014t0001 a0006c0006t0002 a0006c0006t0003 a0006c0006t0009 a0006c0006t0019 a0006c0016t0002 a0007c0007t0001 a0007c0007t0011 a0007c0007t0023 a0007c0007t0028 a0008c0008t0001 a0009c0009t0001 a0009c0009t0006 a0011c0011t0005 a0011c0011t0007 a0012c0013t0002 a0013c0021t0002 a0014c0020t0003 a0015c0019t0003 a0016c0028t0001 a0017c0030t0031 a0019c0024t0002 a0020c0027t0020 a0021c0025t0005	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(347): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0168 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0004g0021 a0001c0001t0004g0111 a0001c0001t0004g0113 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0006g0090 a0001c0001t0010g0044 a0001c0001t0010g0045 a0001c0001t0010g0046 a0001c0001t0010g0047 a0001c0001t0010g0048 a0001c0001t0024g0169 a0001c0001t0025g0055 a0001c0001t0026g0061 a0001c0001t0027g0153 a0001c0017t0001g0064 a0001c0017t0001g0065 a0001c0018t0001g0043 a0002c0002t0002g0199 a0002c0002t0002g0204 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0234 a0002c0002t0002g0255 a0002c0002t0002g0380 a0002c0002t0003g0002 a0002c0002t0003g0004 a0002c0002t0003g0010 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0028 a0002c0002t0003g0029 a0002c0002t0003g0177 a0002c0002t0003g0194 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0003g0201 a0002c0002t0003g0203 a0002c0002t0003g0205 a0002c0002t0003g0206 a0002c0002t0003g0208 a0002c0002t0003g0211 a0002c0002t0003g0213 a0002c0002t0003g0214 a0002c0002t0003g0215 a0002c0002t0003g0216 a0002c0002t0003g0217 a0002c0002t0003g0218 a0002c0002t0003g0223 a0002c0002t0003g0224 a0002c0002t0003g0226 a0002c0002t0003g0227 a0002c0002t0003g0228 a0002c0002t0003g0230 a0002c0002t0003g0231 a0002c0002t0003g0233 a0002c0002t0003g0237 a0002c0002t0003g0238 a0002c0002t0003g0239 a0002c0002t0003g0240 a0002c0002t0003g0242 a0002c0002t0003g0243 a0002c0002t0003g0244 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0257 a0002c0002t0003g0260 a0002c0002t0003g0261 a0002c0002t0003g0262 a0002c0002t0003g0263 a0002c0002t0003g0264 a0002c0002t0003g0265 a0002c0002t0003g0266 a0002c0002t0003g0267 a0002c0002t0003g0268 a0002c0002t0003g0377 a0002c0002t0007g0241 a0002c0002t0008g0009 a0002c0002t0008g0193 a0002c0002t0008g0207 a0002c0002t0008g0209 a0002c0002t0008g0210 a0002c0002t0009g0259 a0002c0002t0014g0025 a0002c0002t0015g0010 a0002c0002t0015g0256 a0002c0002t0017g0235 a0002c0002t0018g0200 a0002c0002t0021g0232 a0002c0002t0022g0195 a0002c0022t0003g0225 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0037 a0003c0003t0002g0173 a0003c0003t0002g0174 a0003c0003t0002g0250 a0003c0003t0002g0272 a0003c0003t0002g0277 a0003c0003t0002g0282 a0003c0003t0002g0283 a0003c0003t0002g0284 a0003c0003t0002g0288 a0003c0003t0002g0294 a0003c0003t0002g0305 a0003c0003t0002g0306 a0003c0003t0002g0307 a0003c0003t0002g0308 a0003c0003t0002g0310 a0003c0003t0002g0314 a0003c0003t0002g0319 a0003c0003t0002g0331 a0003c0003t0002g0332 a0003c0003t0002g0339 a0003c0003t0002g0340 a0003c0003t0002g0342 a0003c0003t0002g0345 a0003c0003t0002g0355 a0003c0003t0002g0357 a0003c0003t0002g0370 a0003c0003t0002g0371 a0003c0003t0002g0375 a0003c0003t0003g0035 a0003c0003t0003g0196 a0003c0003t0003g0202 a0003c0003t0003g0251 a0003c0003t0003g0252 a0003c0003t0003g0253 a0003c0003t0003g0254 a0003c0003t0003g0303 a0003c0003t0003g0351 a0003c0003t0005g0030 a0003c0003t0005g0031 a0003c0003t0005g0175 a0003c0003t0005g0176 a0003c0003t0005g0258 a0003c0003t0005g0285 a0003c0003t0005g0286 a0003c0003t0005g0287 a0003c0003t0005g0378 a0003c0003t0007g0011 a0003c0003t0007g0249 a0003c0003t0007g0271 a0003c0003t0009g0309 a0003c0003t0012g0171 a0003c0003t0012g0172 a0003c0010t0001g0158 a0003c0010t0001g0159 a0003c0010t0001g0161 a0003c0010t0001g0162 a0003c0010t0006g0163 a0003c0010t0006g0164 a0003c0015t0001g0150 a0003c0015t0001g0151 a0003c0023t0002g0341 a0003c0026t0007g0170 a0004c0004t0002g0003 a0004c0004t0002g0032 a0004c0004t0002g0269 a0004c0004t0002g0279 a0004c0004t0002g0281 a0004c0004t0002g0289 a0004c0004t0002g0290 a0004c0004t0002g0292 a0004c0004t0002g0293 a0004c0004t0002g0295 a0004c0004t0002g0296 a0004c0004t0002g0297 a0004c0004t0002g0298 a0004c0004t0002g0299 a0004c0004t0002g0300 a0004c0004t0002g0301 a0004c0004t0002g0302 a0004c0004t0002g0304 a0004c0004t0002g0312 a0004c0004t0002g0313 a0004c0004t0002g0315 a0004c0004t0002g0316 a0004c0004t0002g0317 a0004c0004t0002g0318 a0004c0004t0002g0320 a0004c0004t0002g0321 a0004c0004t0002g0322 a0004c0004t0002g0323 a0004c0004t0002g0324 a0004c0004t0002g0325 a0004c0004t0002g0326 a0004c0004t0002g0327 a0004c0004t0002g0328 a0004c0004t0002g0329 a0004c0004t0002g0330 a0004c0004t0002g0333 a0004c0004t0002g0334 a0004c0004t0002g0335 a0004c0004t0002g0336 a0004c0004t0002g0337 a0004c0004t0002g0372 a0004c0004t0002g0376 a0004c0004t0013g0278 a0004c0004t0013g0379 a0004c0014t0001g0157 a0004c0014t0001g0160 a0006c0006t0002g0036 a0006c0006t0002g0037 a0006c0006t0002g0270 a0006c0006t0002g0338 a0006c0006t0002g0343 a0006c0006t0002g0347 a0006c0006t0002g0348 a0006c0006t0002g0349 a0006c0006t0002g0350 a0006c0006t0002g0353 a0006c0006t0002g0354 a0006c0006t0002g0361 a0006c0006t0002g0362 a0006c0006t0002g0363 a0006c0006t0002g0364 a0006c0006t0002g0365 a0006c0006t0002g0366 a0006c0006t0002g0367 a0006c0006t0002g0368 a0006c0006t0002g0369 a0006c0006t0003g0012 a0006c0006t0003g0035 a0006c0006t0003g0352 a0006c0006t0003g0359 a0006c0006t0003g0373 a0006c0006t0009g0346 a0006c0006t0009g0356 a0006c0006t0009g0374 a0006c0006t0019g0344 a0006c0016t0002g0358 a0006c0016t0002g0360 a0007c0007t0001g0005 a0007c0007t0001g0068 a0007c0007t0001g0082 a0007c0007t0001g0083 a0007c0007t0001g0101 a0007c0007t0001g0102 a0007c0007t0001g0103 a0007c0007t0011g0005 a0007c0007t0011g0085 a0007c0007t0023g0104 a0007c0007t0028g0105 a0008c0008t0001g0015 a0008c0008t0001g0038 a0008c0008t0001g0146 a0008c0008t0001g0152 a0008c0008t0001g0181 a0008c0008t0001g0189 a0008c0008t0001g0190 a0009c0009t0001g0167 a0009c0009t0006g0023 a0009c0009t0006g0154 a0009c0009t0006g0156 a0009c0009t0006g0165 a0009c0009t0006g0166 a0011c0011t0005g0274 a0011c0011t0005g0275 a0011c0011t0005g0276 a0011c0011t0007g0273 a0012c0013t0002g0229 a0012c0013t0002g0236 a0013c0021t0002g0212 a0014c0020t0003g0002 a0015c0019t0003g0010 a0016c0028t0001g0092 a0017c0030t0031g0122 a0019c0024t0002g0311 a0020c0027t0020g0280 a0021c0025t0005g0291	397	436	0.9106	c.138 others(4): Show c.1387A>G	p.Asn others(6): Show p.Asn463Asp	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	11/14	1556/2894	1387/1734	463/577	chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20483076	G G	A A	missense_variant missense_variant	MODERATE	HG01928.hp2 HG01928.hp2	a0017 a0017	a0017c0030 a0017c0030	a0017c0030t0031 a0017c0030t0031	a0017c0030t0031g0122 a0017c0030t0031g0122	1	436	0.0023	c.152 others(4): Show c.1528G>A	p.Val others(6): Show p.Val510Ile	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	13/14	1697/2894	1528/1734	510/577	chr16	TogoVar

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