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
ACSM5_chr16_20404534_20446336	20431024	A A	C C	missense_variant missense_variant	MODERATE	HG01074.hp1 HG01081.hp1 HG01074.hp1 HG01081.hp1	a0017 a0017	a0017c0018 a0017c0018	a0017c0018t0001 a0017c0018t0001	a0017c0018t0001g0011 a0017c0018t0001g0156 a0017c0018t0001g0011 a0017c0018t0001g0156	2	434	0.0046	c.115 others(4): Show c.1157A>C	p.Lys others(6): Show p.Lys386Thr	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	9/14	1304/2796	1157/1740	386/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20431272	C C	T T	missense_variant missense_variant	MODERATE	HG03704.hp2 HG03704.hp2	a0028 a0028	a0028c0034 a0028c0034	a0028c0034t0004 a0028c0034t0004	a0028c0034t0004g0279 a0028c0034t0004g0279	1	434	0.0023	c.125 others(4): Show c.1259C>T	p.Ala others(6): Show p.Ala420Val	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	10/14	1406/2796	1259/1740	420/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20437089	A A	G G	missense_variant missense_variant	MODERATE	HG01109.hp2 NA18953.hp2 NA18957.hp1 others(2): Show HG01109.hp2 NA18953.hp2 NA18957.hp1 NA19006.hp2 NA19056.hp2	a0011 a0027 a0011 a0027	a0011c0012 a0027c0033 a0011c0012 a0027c0033	a0011c0012t0001 a0027c0033t0004 a0011c0012t0001 a0027c0033t0004	a0011c0012t0001g0023 a0011c0012t0001g0223 a0011c0012t0001g0227 others(1): Show a0011c0012t0001g0023 a0011c0012t0001g0223 a0011c0012t0001g0227 a0027c0033t0004g0287	5	434	0.0115	c.134 others(4): Show c.1346A>G	p.Asp others(6): Show p.Asp449Gly	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	11/14	1493/2796	1346/1740	449/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20437148	G G	A A	missense_variant missense_variant	MODERATE	HG01515.hp2 HG01515.hp2	a0029 a0029	a0029c0035 a0029c0035	a0029c0035t0001 a0029c0035t0001	a0029c0035t0001g0189 a0029c0035t0001g0189	1	434	0.0023	c.140 others(4): Show c.1405G>A	p.Gly others(6): Show p.Gly469Arg	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	11/14	1552/2796	1405/1740	469/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20437157	G G	A A	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02486.hp2 HG02145.hp1 HG02486.hp2	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0010 a0016c0017t0010	a0016c0017t0010g0050 a0016c0017t0010g0051 a0016c0017t0010g0050 a0016c0017t0010g0051	2	434	0.0046	c.141 others(4): Show c.1414G>A	p.Asp others(6): Show p.Asp472Asn	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	11/14	1561/2796	1414/1740	472/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20437273	G G	A A	missense_variant missense_variant	MODERATE	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0002 a0015c0015t0002	a0015c0015t0002g0004 a0015c0015t0002g0004	2	434	0.0046	c.144 others(4): Show c.1442G>A	p.Arg others(6): Show p.Arg481Gln	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	12/14	1589/2796	1442/1740	481/579	chr16	TogoVar
ACSM6_chr10_95189238_95233929	95194541	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(105): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00609.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01978.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18944.hp1 NA18959.hp2 NA19030.hp1 NA19060.hp1 NA19079.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0005 a0009	a0002c0002 a0002c0005 a0003c0003 others(3): Show a0002c0002 a0002c0005 a0003c0003 a0004c0004 a0005c0006 a0009c0010	a0002c0002t0001 a0002c0005t0001 a0003c0003t0001 others(3): Show a0002c0002t0001 a0002c0005t0001 a0003c0003t0001 a0004c0004t0001 a0005c0006t0001 a0009c0010t0001	a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0037 others(80): Show a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0216 a0002c0005t0001g0007 a0002c0005t0001g0189 a0002c0005t0001g0193 a0002c0005t0001g0211 a0002c0005t0001g0215 a0003c0003t0001g0010 a0003c0003t0001g0019 a0003c0003t0001g0033 a0003c0003t0001g0034 a0003c0003t0001g0036 a0003c0003t0001g0149 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0001g0175 a0003c0003t0001g0176 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0188 a0003c0003t0001g0206 a0003c0003t0001g0207 a0004c0004t0001g0005 a0004c0004t0001g0018 a0004c0004t0001g0035 a0004c0004t0001g0161 a0004c0004t0001g0162 a0004c0004t0001g0163 a0004c0004t0001g0164 a0004c0004t0001g0165 a0004c0004t0001g0166 a0004c0004t0001g0167 a0005c0006t0001g0168 a0005c0006t0001g0169 a0009c0010t0001g0150	108	314	0.3440	c.56A others(2): Show c.56A>G	p.Glu others(5): Show p.Glu19Gly	ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	2/11	143/1675	56/1443	19/480	chr10	TogoVar
ACSM6_chr10_95189238_95233929	95194603	T T	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(46): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00609.hp1 HG00642.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01109.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01978.hp2 HG02015.hp2 HG02040.hp1 HG02300.hp1 HG02602.hp1 HG02698.hp2 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18944.hp1 NA18959.hp2 NA19060.hp1 NA19079.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0005t0001 a0002c0002t0001 a0002c0005t0001	a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0037 others(36): Show a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0216 a0002c0005t0001g0007 a0002c0005t0001g0189 a0002c0005t0001g0193 a0002c0005t0001g0211 a0002c0005t0001g0215	49	314	0.1561	c.118 others(3): Show c.118T>A	p.Cys others(5): Show p.Cys40Ser	ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	2/11	205/1675	118/1443	40/480	chr10	TogoVar
ACSM6_chr10_95189238_95233929	95202020	G G	C C	missense_variant missense_variant	MODERATE	HG02922.hp2 HG03579.hp1 HG02922.hp2 HG03579.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0168 a0005c0006t0001g0169 a0005c0006t0001g0168 a0005c0006t0001g0169	2	314	0.0064	c.228 others(3): Show c.228G>C	p.Lys others(5): Show p.Lys76Asn	ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	3/11	315/1675	228/1443	76/480	chr10	TogoVar
ACSM6_chr10_95189238_95233929	95210706	T T	C C	missense_variant missense_variant	MODERATE	NA18522.hp2 NA18522.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0098 a0008c0007t0001g0098	1	314	0.0032	c.668 others(3): Show c.668T>C	p.Ile others(6): Show p.Ile223Thr	ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	5/11	755/1675	668/1443	223/480	chr10	TogoVar
ACSM6_chr10_95189238_95233929	95210718	A A	G G	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02109.hp1 HG02145.hp1 others(16): Show HG01884.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp2 NA20129.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0005c0006 a0004c0004 a0005c0006	a0004c0004t0001 a0005c0006t0001 a0004c0004t0001 a0005c0006t0001	a0004c0004t0001g0005 a0004c0004t0001g0018 a0004c0004t0001g0035 others(9): Show a0004c0004t0001g0005 a0004c0004t0001g0018 a0004c0004t0001g0035 a0004c0004t0001g0161 a0004c0004t0001g0162 a0004c0004t0001g0163 a0004c0004t0001g0164 a0004c0004t0001g0165 a0004c0004t0001g0166 a0004c0004t0001g0167 a0005c0006t0001g0168 a0005c0006t0001g0169	19	314	0.0605	c.680 others(3): Show c.680A>G	p.Lys others(6): Show p.Lys227Arg	ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	5/11	767/1675	680/1443	227/480	chr10	TogoVar
ACSM6_chr10_95189238_95233929	95225300	A A	C C	missense_variant missense_variant	MODERATE	HG02965.hp2 HG02965.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0150 a0009c0010t0001g0150	1	314	0.0032	c.121 others(4): Show c.1211A>C	p.Glu others(6): Show p.Glu404Ala	ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	10/11	1298/1675	1211/1443	404/480	chr10	TogoVar
ACSM6_chr10_95189238_95233929	95228755	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02630.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0041 a0007c0009t0001g0041	1	314	0.0032	c.141 others(4): Show c.1414G>A	p.Val others(6): Show p.Val472Ile	ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	11/11	1501/1675	1414/1443	472/480	chr10	TogoVar
ACSS1_chr20_25001237_25063139	25007826	C C	G G	missense_variant missense_variant	MODERATE	HG00558.hp1 HG00558.hp1	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0001 a0012c0023t0001	a0012c0023t0001g0078 a0012c0023t0001g0078	1	244	0.0041	c.200 others(4): Show c.2006G>C	p.Ser others(6): Show p.Ser669Thr	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	14/14	2043/3632	2006/2070	669/689	chr20	TogoVar
ACSS1_chr20_25001237_25063139	25013653	C C	T T	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00639.hp1 HG01109.hp1 others(54): Show HG00558.hp2 HG00639.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01515.hp2 HG01884.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp2 HG03654.hp2 HG03927.hp2 HG06807.hp1 NA18522.hp2 NA18948.hp1 NA18954.hp2 NA18956.hp2 NA18965.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp2 NA18998.hp1 NA19030.hp2 NA19043.hp1 NA19070.hp1 NA19077.hp2 NA19079.hp1 NA19085.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0006 others(3): Show a0002 a0004 a0006 a0007 a0008 a0011	a0002c0004 a0002c0005 a0002c0009 others(12): Show a0002c0004 a0002c0005 a0002c0009 a0002c0012 a0002c0013 a0002c0026 a0002c0027 a0002c0028 a0004c0008 a0004c0018 a0004c0019 a0006c0014 a0007c0015 a0008c0011 a0011c0022	a0002c0004t0002 a0002c0004t0008 a0002c0005t0002 others(14): Show a0002c0004t0002 a0002c0004t0008 a0002c0005t0002 a0002c0009t0001 a0002c0012t0002 a0002c0013t0005 a0002c0026t0001 a0002c0027t0001 a0002c0028t0001 a0004c0008t0001 a0004c0018t0002 a0004c0019t0001 a0006c0014t0001 a0007c0015t0005 a0007c0015t0007 a0008c0011t0001 a0011c0022t0001	a0002c0004t0002g0006 a0002c0004t0002g0101 a0002c0004t0002g0105 others(50): Show a0002c0004t0002g0006 a0002c0004t0002g0101 a0002c0004t0002g0105 a0002c0004t0002g0108 a0002c0004t0002g0109 a0002c0004t0002g0112 a0002c0004t0002g0113 a0002c0004t0002g0116 a0002c0004t0002g0129 a0002c0004t0002g0133 a0002c0004t0002g0160 a0002c0004t0008g0107 a0002c0005t0002g0003 a0002c0005t0002g0038 a0002c0005t0002g0039 a0002c0005t0002g0041 a0002c0005t0002g0042 a0002c0005t0002g0043 a0002c0005t0002g0051 a0002c0005t0002g0062 a0002c0005t0002g0075 a0002c0005t0002g0076 a0002c0009t0001g0148 a0002c0009t0001g0149 a0002c0009t0001g0166 a0002c0009t0001g0196 a0002c0009t0001g0203 a0002c0012t0002g0142 a0002c0012t0002g0167 a0002c0012t0002g0181 a0002c0013t0005g0088 a0002c0013t0005g0197 a0002c0013t0005g0206 a0002c0026t0001g0195 a0002c0027t0001g0124 a0002c0028t0001g0079 a0004c0008t0001g0024 a0004c0008t0001g0029 a0004c0008t0001g0030 a0004c0008t0001g0031 a0004c0008t0001g0032 a0004c0008t0001g0033 a0004c0008t0001g0034 a0004c0018t0002g0028 a0004c0019t0001g0026 a0006c0014t0001g0019 a0006c0014t0001g0209 a0007c0015t0005g0212 a0007c0015t0005g0219 a0007c0015t0007g0216 a0008c0011t0001g0004 a0008c0011t0001g0089 a0011c0022t0001g0035	57	244	0.2336	c.146 others(4): Show c.1462G>A	p.Val others(6): Show p.Val488Met	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	10/14	1499/3632	1462/2070	488/689	chr20	TogoVar
ACSS1_chr20_25001237_25063139	25013978	C C	T T	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02896.hp2 HG02965.hp2 others(3): Show HG02723.hp2 HG02896.hp2 HG02965.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp2	a0006 a0008 a0006 a0008	a0006c0014 a0008c0011 a0006c0014 a0008c0011	a0006c0014t0001 a0008c0011t0001 a0006c0014t0001 a0008c0011t0001	a0006c0014t0001g0019 a0006c0014t0001g0209 a0008c0011t0001g0004 others(1): Show a0006c0014t0001g0019 a0006c0014t0001g0209 a0008c0011t0001g0004 a0008c0011t0001g0089	6	244	0.0246	c.143 others(4): Show c.1435G>A	p.Val others(6): Show p.Val479Ile	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	9/14	1472/3632	1435/2070	479/689	chr20	TogoVar
ACSS1_chr20_25001237_25063139	25022954	C C	T T	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02572.hp2	a0010 a0010	a0010c0031 a0010c0031	a0010c0031t0001 a0010c0031t0001	a0010c0031t0001g0218 a0010c0031t0001g0218	1	244	0.0041	c.946 others(3): Show c.946G>A	p.Ala others(6): Show p.Ala316Thr	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	5/14	983/3632	946/2070	316/689	chr20	TogoVar
ACSS1_chr20_25001237_25063139	25023065	C C	T T	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0013 a0013	a0013c0024 a0013c0024	a0013c0024t0010 a0013c0024t0010	a0013c0024t0010g0165 a0013c0024t0010g0165	1	244	0.0041	c.835 others(3): Show c.835G>A	p.Ala others(6): Show p.Ala279Thr	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	5/14	872/3632	835/2070	279/689	chr20	TogoVar
ACSS1_chr20_25001237_25063139	25030936	G G	A A	missense_variant missense_variant	MODERATE	HG01261.hp1 NA19030.hp1 HG01261.hp1 NA19030.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0087 a0009c0017t0001g0159 a0009c0017t0001g0087 a0009c0017t0001g0159	2	244	0.0082	c.454 others(3): Show c.454C>T	p.Arg others(6): Show p.Arg152Cys	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	3/14	491/3632	454/2070	152/689	chr20	TogoVar
ACSS1_chr20_25001237_25063139	25057849	G G	T T	missense_variant missense_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0001 a0011c0022t0001	a0011c0022t0001g0035 a0011c0022t0001g0035	1	244	0.0041	c.254 others(3): Show c.254C>A	p.Thr others(5): Show p.Thr85Asn	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	1/14	291/3632	254/2070	85/689	chr20	TogoVar
ACSS1_chr20_25001237_25063139	25057917	A A	T T	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02258.hp1 HG02647.hp1 others(10): Show HG02109.hp2 HG02258.hp1 HG02647.hp1 HG02818.hp2 HG02896.hp1 HG02970.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 NA18906.hp1	a0004 a0005 a0004 a0005	a0004c0008 a0004c0018 a0004c0019 others(3): Show a0004c0008 a0004c0018 a0004c0019 a0005c0016 a0005c0020 a0005c0021	a0004c0008t0001 a0004c0018t0002 a0004c0019t0001 others(3): Show a0004c0008t0001 a0004c0018t0002 a0004c0019t0001 a0005c0016t0001 a0005c0020t0006 a0005c0021t0003	a0004c0008t0001g0024 a0004c0008t0001g0029 a0004c0008t0001g0030 others(10): Show a0004c0008t0001g0024 a0004c0008t0001g0029 a0004c0008t0001g0030 a0004c0008t0001g0031 a0004c0008t0001g0032 a0004c0008t0001g0033 a0004c0008t0001g0034 a0004c0018t0002g0028 a0004c0019t0001g0026 a0005c0016t0001g0022 a0005c0016t0001g0027 a0005c0020t0006g0023 a0005c0021t0003g0025	13	244	0.0533	c.186 others(3): Show c.186T>A	p.Ser others(5): Show p.Ser62Arg	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	1/14	223/3632	186/2070	62/689	chr20	TogoVar
ACSS1_chr20_25001237_25063139	25058075	C C	A A	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01109.hp2 HG02055.hp2 others(16): Show HG01109.hp1 HG01109.hp2 HG02055.hp2 HG02280.hp2 HG02572.hp2 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 NA19043.hp2	a0003 a0006 a0007 others(1): Show a0003 a0006 a0007 a0010	a0003c0006 a0003c0032 a0006c0014 others(2): Show a0003c0006 a0003c0032 a0006c0014 a0007c0015 a0010c0031	a0003c0006t0001 a0003c0032t0003 a0006c0014t0001 others(3): Show a0003c0006t0001 a0003c0032t0003 a0006c0014t0001 a0007c0015t0005 a0007c0015t0007 a0010c0031t0001	a0003c0006t0001g0020 a0003c0006t0001g0021 a0003c0006t0001g0211 others(13): Show a0003c0006t0001g0020 a0003c0006t0001g0021 a0003c0006t0001g0211 a0003c0006t0001g0213 a0003c0006t0001g0214 a0003c0006t0001g0215 a0003c0006t0001g0217 a0003c0006t0001g0220 a0003c0006t0001g0221 a0003c0032t0003g0210 a0006c0014t0001g0019 a0006c0014t0001g0209 a0007c0015t0005g0212 a0007c0015t0005g0219 a0007c0015t0007g0216 a0010c0031t0001g0218	19	244	0.0779	c.28G others(2): Show c.28G>T	p.Val others(5): Show p.Val10Phe	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	1/14	65/3632	28/2070	10/689	chr20	TogoVar
ACSS1_chr20_25001237_25063139	25058077	C C	T T	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02258.hp1 HG02647.hp1 others(10): Show HG02109.hp2 HG02258.hp1 HG02647.hp1 HG02818.hp2 HG02896.hp1 HG02970.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 NA18906.hp1	a0004 a0005 a0004 a0005	a0004c0008 a0004c0018 a0004c0019 others(3): Show a0004c0008 a0004c0018 a0004c0019 a0005c0016 a0005c0020 a0005c0021	a0004c0008t0001 a0004c0018t0002 a0004c0019t0001 others(3): Show a0004c0008t0001 a0004c0018t0002 a0004c0019t0001 a0005c0016t0001 a0005c0020t0006 a0005c0021t0003	a0004c0008t0001g0024 a0004c0008t0001g0029 a0004c0008t0001g0030 others(10): Show a0004c0008t0001g0024 a0004c0008t0001g0029 a0004c0008t0001g0030 a0004c0008t0001g0031 a0004c0008t0001g0032 a0004c0008t0001g0033 a0004c0008t0001g0034 a0004c0018t0002g0028 a0004c0019t0001g0026 a0005c0016t0001g0022 a0005c0016t0001g0027 a0005c0020t0006g0023 a0005c0021t0003g0025	13	244	0.0533	c.26G others(2): Show c.26G>A	p.Gly others(4): Show p.Gly9Asp	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	1/14	63/3632	26/2070	9/689	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34876769	C C	A A	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0001 a0009c0007t0001	a0009c0007t0001g0124 a0009c0007t0001g0124	1	312	0.0032	c.124 others(3): Show c.124C>A	p.Pro others(5): Show p.Pro42Thr	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	1/18	158/2885	124/2106	42/701	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34882934	G G	C C	missense_variant missense_variant	MODERATE	HG02922.hp1 HG03516.hp2 HG02922.hp1 HG03516.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0106 a0004c0006t0001g0285 a0004c0006t0001g0106 a0004c0006t0001g0285	2	312	0.0064	c.319 others(3): Show c.319G>C	p.Val others(6): Show p.Val107Leu	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/18	353/2885	319/2106	107/701	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34882979	G G	A A	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02572.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0118 a0008c0008t0001g0118	1	312	0.0032	c.364 others(3): Show c.364G>A	p.Ala others(6): Show p.Ala122Thr	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/18	398/2885	364/2106	122/701	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34913403	G G	C C	missense_variant missense_variant	MODERATE	HG02004.hp2 HG02004.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0020 a0007c0009t0001g0020	1	312	0.0032	c.477 others(3): Show c.477G>C	p.Lys others(6): Show p.Lys159Asn	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	4/18	511/2885	477/2106	159/701	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34919498	T T	A A	missense_variant missense_variant	MODERATE	HG00738.hp1 HG01167.hp2 HG01169.hp1 others(5): Show HG00738.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG03453.hp1 HG03540.hp1 NA18522.hp1 NA18906.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0001 a0003c0005t0001g0016 a0003c0005t0001g0017 others(3): Show a0003c0005t0001g0001 a0003c0005t0001g0016 a0003c0005t0001g0017 a0003c0005t0001g0103 a0003c0005t0001g0121 a0003c0005t0001g0122	8	312	0.0256	c.898 others(3): Show c.898T>A	p.Cys others(6): Show p.Cys300Ser	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	8/18	932/2885	898/2106	300/701	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34921805	T T	C C	missense_variant missense_variant	MODERATE	HG01928.hp2 HG01928.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0074 a0005c0011t0001g0074	1	312	0.0032	c.148 others(4): Show c.1487T>C	p.Val others(6): Show p.Val496Ala	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	13/18	1521/2885	1487/2106	496/701	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34926180	G G	C C	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02717.hp2 HG02723.hp2 others(7): Show HG02572.hp1 HG02717.hp2 HG02723.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03471.hp2 HG03579.hp1 NA18906.hp2	a0002 a0006 a0002 a0006	a0002c0004 a0006c0012 a0002c0004 a0006c0012	a0002c0004t0001 a0006c0012t0001 a0002c0004t0001 a0006c0012t0001	a0002c0004t0001g0009 a0002c0004t0001g0013 a0002c0004t0001g0014 others(7): Show a0002c0004t0001g0009 a0002c0004t0001g0013 a0002c0004t0001g0014 a0002c0004t0001g0145 a0002c0004t0001g0146 a0002c0004t0001g0147 a0002c0004t0001g0148 a0002c0004t0001g0149 a0002c0004t0001g0150 a0006c0012t0001g0011	10	312	0.0321	c.180 others(4): Show c.1802G>C	p.Gly others(6): Show p.Gly601Ala	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	16/18	1836/2885	1802/2106	601/701	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34927194	C C	T T	missense_variant missense_variant	MODERATE	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0011 a0006c0012t0001g0011	1	312	0.0032	c.208 others(4): Show c.2086C>T	p.Arg others(6): Show p.Arg696Cys	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	18/18	2120/2885	2086/2106	696/701	chr20	TogoVar
ACSS3_chr12_81073079_81266210	81078175	G G	C C	missense_variant missense_variant	MODERATE	NA19010.hp2 NA19085.hp1 NA19010.hp2 NA19085.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0268 a0003c0007t0005g0276 a0003c0007t0005g0268 a0003c0007t0005g0276	2	290	0.0069	c.55G others(2): Show c.55G>C	p.Gly others(5): Show p.Gly19Arg	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	1/16	97/8391	55/2061	19/686	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81134846	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02109.hp2 HG02257.hp2 others(29): Show HG01884.hp2 HG02109.hp2 HG02257.hp2 HG02280.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03225.hp1 HG06807.hp1 NA18906.hp2 NA18939.hp2 NA18949.hp2 NA18951.hp1 NA18955.hp1 NA18957.hp2 NA18966.hp1 NA18973.hp2 NA18989.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19078.hp2 NA19080.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19240.hp2 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0002c0004 a0002c0009 others(3): Show a0002c0003 a0002c0004 a0002c0009 a0002c0014 a0002c0015 a0003c0007	a0002c0003t0005 a0002c0004t0001 a0002c0004t0003 others(6): Show a0002c0003t0005 a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 a0002c0004t0008 a0002c0009t0002 a0002c0014t0003 a0002c0015t0003 a0003c0007t0005	a0002c0003t0005g0152 a0002c0003t0005g0153 a0002c0003t0005g0154 others(29): Show a0002c0003t0005g0152 a0002c0003t0005g0153 a0002c0003t0005g0154 a0002c0003t0005g0155 a0002c0003t0005g0156 a0002c0003t0005g0157 a0002c0003t0005g0271 a0002c0003t0005g0272 a0002c0003t0005g0273 a0002c0003t0005g0274 a0002c0003t0005g0275 a0002c0003t0005g0277 a0002c0003t0005g0278 a0002c0003t0005g0279 a0002c0003t0005g0281 a0002c0004t0001g0267 a0002c0004t0001g0283 a0002c0004t0003g0229 a0002c0004t0003g0230 a0002c0004t0003g0280 a0002c0004t0003g0282 a0002c0004t0003g0287 a0002c0004t0004g0204 a0002c0004t0004g0284 a0002c0004t0004g0285 a0002c0004t0008g0044 a0002c0009t0002g0269 a0002c0009t0002g0270 a0002c0014t0003g0233 a0002c0015t0003g0041 a0003c0007t0005g0268 a0003c0007t0005g0276	32	290	0.1103	c.487 others(3): Show c.487C>T	p.His others(6): Show p.His163Tyr	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	3/16	529/8391	487/2061	163/686	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81233436	G G	T T	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0066 a0004c0012t0002g0066	1	290	0.0035	c.168 others(4): Show c.1684G>T	p.Ala others(6): Show p.Ala562Ser	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	13/16	1726/8391	1684/2061	562/686	chr12	TogoVar
ACTBL2_chr5_57475018_57487811	57481615	C C	T T	missense_variant missense_variant	MODERATE	NA18747.hp2 NA18747.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0000 a0008c0011t0001g0000	1	448	0.0022	c.109 others(4): Show c.1093G>A	p.Glu others(6): Show p.Glu365Lys	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	1197/2794	1093/1131	365/376	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57481945	G G	C C	missense_variant missense_variant	MODERATE	HG00639.hp2 HG00639.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0000 a0007c0013t0001g0000	1	448	0.0022	c.763 others(3): Show c.763C>G	p.Arg others(6): Show p.Arg255Gly	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	867/2794	763/1131	255/376	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57482065	C C	G G	missense_variant missense_variant	MODERATE	HG02683.hp1 HG03654.hp1 HG02683.hp1 HG03654.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0000 a0005c0007t0002g0000	2	448	0.0045	c.643 others(3): Show c.643G>C	p.Glu others(6): Show p.Glu215Gln	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	747/2794	643/1131	215/376	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57482085	T T	C C	missense_variant missense_variant	MODERATE	NA18989.hp2 NA18989.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0000 a0009c0014t0001g0000	1	448	0.0022	c.623 others(3): Show c.623A>G	p.Glu others(6): Show p.Glu208Gly	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	727/2794	623/1131	208/376	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57482088	C C	T T	missense_variant missense_variant	MODERATE	HG01358.hp1 HG01358.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0000 a0006c0010t0001g0000	1	448	0.0022	c.620 others(3): Show c.620G>A	p.Arg others(6): Show p.Arg207Gln	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	724/2794	620/1131	207/376	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57482089	G G	A A	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02717.hp1 HG02717.hp2 HG02258.hp2 HG02717.hp1 HG02717.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0000 a0004c0006t0001g0000	3	448	0.0067	c.619 others(3): Show c.619C>T	p.Arg others(6): Show p.Arg207Trp	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	723/2794	619/1131	207/376	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57482118	C C	T T	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02717.hp1 HG02717.hp2 HG02258.hp2 HG02717.hp1 HG02717.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0000 a0004c0006t0001g0000	3	448	0.0067	c.590 others(3): Show c.590G>A	p.Arg others(6): Show p.Arg197Gln	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	694/2794	590/1131	197/376	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57482376	A A	G G	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02145.hp1 HG02258.hp1 others(2): Show HG02109.hp1 HG02145.hp1 HG02258.hp1 HG03209.hp2 HG03516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0000 a0003c0005t0001g0000	5	448	0.0112	c.332 others(3): Show c.332T>C	p.Leu others(6): Show p.Leu111Pro	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	436/2794	332/1131	111/376	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57482386	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02572.hp1 HG02647.hp1 others(6): Show HG01884.hp2 HG02572.hp1 HG02647.hp1 HG02723.hp1 HG03041.hp2 HG03471.hp2 HG06807.hp1 NA20129.hp1 NA21309.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0000 a0002c0004t0004g0000	9	448	0.0201	c.322 others(3): Show c.322G>A	p.Glu others(6): Show p.Glu108Lys	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	426/2794	322/1131	108/376	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57482569	C C	T T	missense_variant missense_variant	MODERATE	HG03831.hp2 HG03831.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0000 a0010c0009t0001g0000	1	448	0.0022	c.139 others(3): Show c.139G>A	p.Gly others(5): Show p.Gly47Ser	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	243/2794	139/1131	47/376	chr5	TogoVar
ACTG2_chr2_73888008_73924865	73919434	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0131 a0002c0004t0001g0131	1	416	0.0024	c.990 others(3): Show c.990T>G	p.Ile others(6): Show p.Ile330Met	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	9/9	1070/1501	990/1131	330/376	chr2	TogoVar
ACTL10_chr20_33661943_33673525	33667801	C C	A A	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02809.hp1 HG02559.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0012 a0002c0002t0001 a0002c0002t0012	a0002c0002t0001g0000 a0002c0002t0012g0000 a0002c0002t0001g0000 a0002c0002t0012g0000	2	368	0.0054	c.304 others(3): Show c.304C>A	p.His others(6): Show p.His102Asn	ACTL10	ENSG00000288649.2	transcript	ENST00000677665.1	protein_coding	1/1	859/1583	304/738	102/245	chr20	TogoVar
ACTL10_chr20_33661943_33673525	33667895	T T	C C	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0000 a0004c0003t0001g0000	1	368	0.0027	c.398 others(3): Show c.398T>C	p.Leu others(6): Show p.Leu133Pro	ACTL10	ENSG00000288649.2	transcript	ENST00000677665.1	protein_coding	1/1	953/1583	398/738	133/245	chr20	TogoVar
ACTL10_chr20_33661943_33673525	33668201	G G	C C	missense_variant missense_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0000 a0003c0004t0001g0000	1	368	0.0027	c.704 others(3): Show c.704G>C	p.Cys others(6): Show p.Cys235Ser	ACTL10	ENSG00000288649.2	transcript	ENST00000677665.1	protein_coding	1/1	1259/1583	704/738	235/245	chr20	TogoVar
ACTL6A_chr3_179557926_179593407	179574382	G G	A A	missense_variant missense_variant	MODERATE	HG02293.hp2 HG02293.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0015 a0004c0004t0001g0015	1	380	0.0026	c.391 others(3): Show c.391G>A	p.Ala others(6): Show p.Ala131Thr	ACTL6A	ENSG00000136518.17	transcript	ENST00000429709.7	protein_coding	5/14	558/1854	391/1290	131/429	chr3	TogoVar
ACTL6A_chr3_179557926_179593407	179576700	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0002 a0002c0005t0001g0002	1	380	0.0026	c.652 others(3): Show c.652G>A	p.Val others(6): Show p.Val218Ile	ACTL6A	ENSG00000136518.17	transcript	ENST00000429709.7	protein_coding	7/14	819/1854	652/1290	218/429	chr3	TogoVar

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