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
ACER1_chr19_6301142_6338612	6307207	C C	G G	missense_variant missense_variant	MODERATE	HG01099.hp2 HG01099.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0015 a0006c0010t0001g0015	1	396	0.0025	c.572 others(3): Show c.572G>C	p.Arg others(6): Show p.Arg191Pro	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	5/6	633/1428	572/795	191/264	chr19	TogoVar
ACER1_chr19_6301142_6338612	6312279	T T	C C	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00323.hp2 HG00558.hp2 others(84): Show HG00280.hp1 HG00323.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01516.hp1 HG01928.hp1 HG01943.hp2 HG01975.hp2 HG01993.hp1 HG02027.hp2 HG02135.hp1 HG02165.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG03017.hp1 HG03239.hp2 HG03669.hp1 HG03831.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19062.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20905.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0002c0005 a0003c0011 others(1): Show a0002c0002 a0002c0005 a0003c0011 a0006c0010	a0002c0002t0001 a0002c0005t0001 a0003c0011t0001 others(1): Show a0002c0002t0001 a0002c0005t0001 a0003c0011t0001 a0006c0010t0001	a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 others(81): Show a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0023 a0002c0002t0001g0033 a0002c0002t0001g0039 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0106 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0120 a0002c0002t0001g0122 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0167 a0002c0002t0001g0213 a0002c0002t0001g0216 a0002c0002t0001g0226 a0002c0002t0001g0240 a0002c0002t0001g0242 a0002c0002t0001g0247 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0256 a0002c0002t0001g0261 a0002c0002t0001g0271 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0280 a0002c0002t0001g0284 a0002c0002t0001g0288 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0312 a0002c0002t0001g0317 a0002c0002t0001g0337 a0002c0002t0001g0339 a0002c0002t0001g0352 a0002c0005t0001g0356 a0002c0005t0001g0358 a0002c0005t0001g0363 a0002c0005t0001g0371 a0003c0011t0001g0377 a0006c0010t0001g0015	87	396	0.2197	c.220 others(3): Show c.220A>G	p.Met others(5): Show p.Met74Val	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	3/6	281/1428	220/795	74/264	chr19	TogoVar
ACER1_chr19_6301142_6338612	6333487	G G	A A	missense_variant missense_variant	MODERATE	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0377 a0003c0011t0001g0377	1	396	0.0025	c.65C others(2): Show c.65C>T	p.Ser others(5): Show p.Ser22Leu	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/6	126/1428	65/795	22/264	chr19	TogoVar
ACER2_chr9_19404009_19457505	19409109	C C	A A	missense_variant missense_variant	MODERATE	HG03130.hp2 HG03579.hp2 HG03130.hp2 HG03579.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0017 a0004c0005t0002 a0004c0005t0017	a0004c0005t0002g0104 a0004c0005t0017g0100 a0004c0005t0002g0104 a0004c0005t0017g0100	2	358	0.0056	c.25C others(2): Show c.25C>A	p.Gln others(4): Show p.Gln9Lys	ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	1/6	101/2773	25/828	9/275	chr9	TogoVar
ACER2_chr9_19404009_19457505	19423902	T T	G G	missense_variant missense_variant	MODERATE	NA19062.hp1 NA19062.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0012 a0006c0007t0012	a0006c0007t0012g0054 a0006c0007t0012g0054	1	358	0.0028	c.149 others(3): Show c.149T>G	p.Met others(5): Show p.Met50Arg	ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	2/6	225/2773	149/828	50/275	chr9	TogoVar
ACER2_chr9_19404009_19457505	19423938	G G	C C	missense_variant missense_variant	MODERATE	NA18966.hp1 NA18966.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0024 a0005c0008t0024	a0005c0008t0024g0023 a0005c0008t0024g0023	1	358	0.0028	c.185 others(3): Show c.185G>C	p.Ser others(5): Show p.Ser62Thr	ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	2/6	261/2773	185/828	62/275	chr9	TogoVar
ACER2_chr9_19404009_19457505	19434982	C C	T T	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00735.hp2 HG01192.hp2 others(21): Show HG00438.hp2 HG00735.hp2 HG01192.hp2 HG02040.hp1 HG02129.hp2 HG02165.hp1 NA18939.hp2 NA18944.hp1 NA18952.hp1 NA18965.hp1 NA18988.hp1 NA18993.hp1 NA19000.hp1 NA19001.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp2 NA19054.hp2 NA19063.hp1 NA19066.hp1 NA19072.hp2 NA19076.hp2 NA19082.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 others(1): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008	a0002c0002t0001g0139 a0002c0002t0001g0147 a0002c0002t0001g0149 others(21): Show a0002c0002t0001g0139 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0206 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0247 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0253 a0002c0002t0001g0256 a0002c0002t0001g0258 a0002c0002t0001g0260 a0002c0002t0001g0290 a0002c0002t0001g0295 a0002c0002t0001g0338 a0002c0002t0003g0264 a0002c0002t0007g0148 a0002c0002t0007g0252 a0002c0002t0007g0254 a0002c0002t0008g0248 a0002c0002t0008g0249	24	358	0.0670	c.401 others(3): Show c.401C>T	p.Ala others(6): Show p.Ala134Val	ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	4/6	477/2773	401/828	134/275	chr9	TogoVar
ACER2_chr9_19404009_19457505	19450608	A A	C C	missense_variant missense_variant	MODERATE	HG01243.hp2 HG02109.hp1 HG02280.hp1 others(4): Show HG01243.hp2 HG02109.hp1 HG02280.hp1 HG02615.hp2 HG02723.hp1 HG02922.hp1 HG03041.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0123 a0003c0004t0004g0124 a0003c0004t0004g0125 others(4): Show a0003c0004t0004g0123 a0003c0004t0004g0124 a0003c0004t0004g0125 a0003c0004t0004g0130 a0003c0004t0004g0131 a0003c0004t0004g0297 a0003c0004t0004g0313	7	358	0.0196	c.800 others(3): Show c.800A>C	p.Asn others(6): Show p.Asn267Thr	ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	6/6	876/2773	800/828	267/275	chr9	TogoVar
ACER3_chr11_76855918_77031797	76926607	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(211): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(97): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0088 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0003t0011 a0001c0003t0016 a0001c0003t0026 a0001c0003t0027 a0001c0003t0130 a0001c0003t0131 a0001c0003t0132 a0001c0003t0133 a0001c0003t0134 a0001c0003t0135 a0001c0003t0136 a0001c0003t0137 a0001c0003t0138 a0001c0003t0139 a0001c0003t0140 a0001c0003t0141 a0001c0003t0142 a0001c0003t0143 a0001c0003t0144 a0001c0003t0145 a0001c0003t0146 a0001c0003t0147 a0001c0003t0148 a0001c0003t0149 a0001c0003t0150 a0001c0003t0151 a0001c0003t0152 a0001c0003t0153 a0001c0005t0047 a0001c0005t0154 a0001c0007t0064	a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0140 others(211): Show a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0032 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0055 a0001c0001t0003g0068 a0001c0001t0003g0085 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0004g0030 a0001c0001t0004g0034 a0001c0001t0004g0037 a0001c0001t0004g0045 a0001c0001t0004g0047 a0001c0001t0004g0056 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0091 a0001c0001t0005g0130 a0001c0001t0005g0147 a0001c0001t0005g0153 a0001c0001t0005g0159 a0001c0001t0005g0160 a0001c0001t0005g0165 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0005g0189 a0001c0001t0007g0149 a0001c0001t0007g0150 a0001c0001t0007g0151 a0001c0001t0007g0152 a0001c0001t0007g0163 a0001c0001t0007g0185 a0001c0001t0008g0042 a0001c0001t0008g0057 a0001c0001t0008g0058 a0001c0001t0008g0062 a0001c0001t0008g0084 a0001c0001t0008g0090 a0001c0001t0012g0133 a0001c0001t0012g0134 a0001c0001t0012g0143 a0001c0001t0012g0146 a0001c0001t0012g0179 a0001c0001t0013g0016 a0001c0001t0013g0019 a0001c0001t0013g0136 a0001c0001t0013g0137 a0001c0001t0013g0154 a0001c0001t0014g0199 a0001c0001t0014g0205 a0001c0001t0014g0206 a0001c0001t0014g0209 a0001c0001t0014g0210 a0001c0001t0017g0195 a0001c0001t0017g0196 a0001c0001t0017g0197 a0001c0001t0017g0198 a0001c0001t0018g0043 a0001c0001t0018g0049 a0001c0001t0018g0089 a0001c0001t0018g0094 a0001c0001t0022g0080 a0001c0001t0022g0081 a0001c0001t0022g0088 a0001c0001t0023g0063 a0001c0001t0023g0064 a0001c0001t0023g0095 a0001c0001t0028g0100 a0001c0001t0028g0186 a0001c0001t0029g0202 a0001c0001t0029g0203 a0001c0001t0030g0015 a0001c0001t0030g0067 a0001c0001t0031g0040 a0001c0001t0031g0048 a0001c0001t0032g0065 a0001c0001t0032g0066 a0001c0001t0033g0024 a0001c0001t0033g0061 a0001c0001t0034g0092 a0001c0001t0034g0098 a0001c0001t0035g0069 a0001c0001t0035g0070 a0001c0001t0036g0022 a0001c0001t0036g0044 a0001c0001t0037g0099 a0001c0001t0037g0128 a0001c0001t0038g0050 a0001c0001t0038g0093 a0001c0001t0048g0188 a0001c0001t0049g0172 a0001c0001t0050g0132 a0001c0001t0051g0145 a0001c0001t0052g0167 a0001c0001t0053g0182 a0001c0001t0054g0164 a0001c0001t0055g0141 a0001c0001t0056g0155 a0001c0001t0057g0329 a0001c0001t0058g0190 a0001c0001t0059g0139 a0001c0001t0060g0162 a0001c0001t0061g0187 a0001c0001t0062g0031 a0001c0001t0063g0174 a0001c0001t0065g0082 a0001c0001t0066g0017 a0001c0001t0067g0059 a0001c0001t0068g0025 a0001c0001t0069g0079 a0001c0001t0070g0201 a0001c0001t0071g0138 a0001c0001t0072g0076 a0001c0001t0073g0207 a0001c0001t0074g0129 a0001c0001t0075g0200 a0001c0001t0076g0051 a0001c0001t0077g0052 a0001c0001t0078g0033 a0001c0001t0079g0041 a0001c0001t0080g0086 a0001c0001t0081g0018 a0001c0001t0082g0053 a0001c0001t0083g0054 a0001c0001t0084g0060 a0001c0001t0085g0035 a0001c0001t0086g0208 a0001c0001t0088g0127 a0001c0001t0091g0075 a0001c0001t0092g0087 a0001c0001t0093g0083 a0001c0001t0127g0046 a0001c0001t0128g0072 a0001c0001t0129g0071 a0001c0003t0011g0101 a0001c0003t0011g0103 a0001c0003t0011g0104 a0001c0003t0011g0105 a0001c0003t0011g0106 a0001c0003t0011g0111 a0001c0003t0016g0102 a0001c0003t0016g0107 a0001c0003t0016g0108 a0001c0003t0016g0109 a0001c0003t0016g0112 a0001c0003t0026g0114 a0001c0003t0026g0115 a0001c0003t0026g0117 a0001c0003t0027g0118 a0001c0003t0027g0119 a0001c0003t0027g0120 a0001c0003t0130g0346 a0001c0003t0131g0342 a0001c0003t0132g0343 a0001c0003t0133g0340 a0001c0003t0134g0345 a0001c0003t0135g0344 a0001c0003t0136g0341 a0001c0003t0137g0121 a0001c0003t0138g0123 a0001c0003t0139g0122 a0001c0003t0140g0116 a0001c0003t0141g0332 a0001c0003t0142g0335 a0001c0003t0143g0334 a0001c0003t0144g0338 a0001c0003t0145g0113 a0001c0003t0146g0124 a0001c0003t0147g0336 a0001c0003t0148g0014 a0001c0003t0149g0337 a0001c0003t0150g0339 a0001c0003t0151g0110 a0001c0003t0152g0333 a0001c0003t0153g0125 a0001c0005t0047g0005 a0001c0005t0154g0204 a0001c0007t0064g0126	214	346	0.6185	c.154 others(3): Show c.154G>A	p.Val others(5): Show p.Val52Ile	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/11	213/7333	154/804	52/267	chr11	TogoVar
ACER3_chr11_76855918_77031797	76985680	C C	T T	missense_variant missense_variant	MODERATE	NA18947.hp1 NA18947.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0009 a0003c0006t0009	a0003c0006t0009g0213 a0003c0006t0009g0213	1	346	0.0029	c.358 others(3): Show c.358C>T	p.His others(6): Show p.His120Tyr	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	5/11	417/7333	358/804	120/267	chr11	TogoVar
ACE_chr17_63472061_63503373	63477099	G G	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG03098.hp2 HG03516.hp2 others(1): Show HG01884.hp2 HG03098.hp2 HG03516.hp2 NA18979.hp2	a0009 a0027 a0009 a0027	a0009c0019 a0027c0066 a0009c0019 a0027c0066	a0009c0019t0001 a0027c0066t0002 a0009c0019t0001 a0027c0066t0002	a0009c0019t0001g0020 a0009c0019t0001g0043 a0027c0066t0002g0002 a0009c0019t0001g0020 a0009c0019t0001g0043 a0027c0066t0002g0002	4	374	0.0107	c.5G> others(1): Show c.5G>T	p.Gly others(4): Show p.Gly2Val	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	1/25	39/4962	5/3921	2/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63477164	C C	A A	missense_variant missense_variant	MODERATE	NA19055.hp1 NA19055.hp1	a0026 a0026	a0026c0032 a0026c0032	a0026c0032t0002 a0026c0032t0002	a0026c0032t0002g0002 a0026c0032t0002g0002	1	374	0.0027	c.70C others(2): Show c.70C>A	p.Pro others(5): Show p.Pro24Thr	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	1/25	104/4962	70/3921	24/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63479068	A A	G G	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00558.hp1 HG02523.hp2 others(2): Show HG00408.hp2 HG00558.hp1 HG02523.hp2 NA18948.hp1 NA19007.hp2	a0007 a0025 a0007 a0025	a0007c0031 a0007c0061 a0007c0062 others(1): Show a0007c0031 a0007c0061 a0007c0062 a0025c0063	a0007c0031t0002 a0007c0061t0001 a0007c0062t0001 others(1): Show a0007c0031t0002 a0007c0061t0001 a0007c0062t0001 a0025c0063t0001	a0007c0031t0002g0035 a0007c0061t0001g0130 a0007c0062t0001g0040 others(1): Show a0007c0031t0002g0035 a0007c0061t0001g0130 a0007c0062t0001g0040 a0025c0063t0001g0040	5	374	0.0134	c.479 others(3): Show c.479A>G	p.Asn others(6): Show p.Asn160Ser	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	3/25	513/4962	479/3921	160/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63479804	G G	A A	missense_variant missense_variant	MODERATE	HG02922.hp1 HG02922.hp1	a0024 a0024	a0024c0034 a0024c0034	a0024c0034t0004 a0024c0034t0004	a0024c0034t0004g0045 a0024c0034t0004g0045	1	374	0.0027	c.547 others(3): Show c.547G>A	p.Ala others(6): Show p.Ala183Thr	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	4/25	581/4962	547/3921	183/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63480412	A A	G G	missense_variant missense_variant	MODERATE	HG01358.hp1 HG01358.hp1	a0015 a0015	a0015c0053 a0015c0053	a0015c0053t0001 a0015c0053t0001	a0015c0053t0001g0001 a0015c0053t0001g0001	1	374	0.0027	c.731 others(3): Show c.731A>G	p.Tyr others(6): Show p.Tyr244Cys	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	5/25	765/4962	731/3921	244/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63480462	G G	T T	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02717.hp1 HG02886.hp1 others(6): Show HG02622.hp2 HG02717.hp1 HG02886.hp1 HG02965.hp2 HG03098.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1	a0004 a0006 a0004 a0006	a0004c0009 a0006c0011 a0004c0009 a0006c0011	a0004c0009t0003 a0006c0011t0007 a0006c0011t0008 others(1): Show a0004c0009t0003 a0006c0011t0007 a0006c0011t0008 a0006c0011t0012	a0004c0009t0003g0012 a0004c0009t0003g0139 a0006c0011t0007g0037 others(2): Show a0004c0009t0003g0012 a0004c0009t0003g0139 a0006c0011t0007g0037 a0006c0011t0008g0152 a0006c0011t0012g0147	9	374	0.0241	c.781 others(3): Show c.781G>T	p.Ala others(6): Show p.Ala261Ser	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	5/25	815/4962	781/3921	261/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63481171	A A	G G	missense_variant missense_variant	MODERATE	NA18979.hp2 NA19010.hp1 NA18979.hp2 NA19010.hp1	a0016 a0027 a0016 a0027	a0016c0052 a0027c0066 a0016c0052 a0027c0066	a0016c0052t0002 a0027c0066t0002 a0016c0052t0002 a0027c0066t0002	a0016c0052t0002g0002 a0027c0066t0002g0002 a0016c0052t0002g0002 a0027c0066t0002g0002	2	374	0.0054	c.928 others(3): Show c.928A>G	p.Ser others(6): Show p.Ser310Gly	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	6/25	962/4962	928/3921	310/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63481590	C C	T T	missense_variant missense_variant	MODERATE	HG01934.hp1 HG02970.hp1 HG01934.hp1 HG02970.hp1	a0014 a0014	a0014c0029 a0014c0029	a0014c0029t0001 a0014c0029t0001	a0014c0029t0001g0148 a0014c0029t0001g0149 a0014c0029t0001g0148 a0014c0029t0001g0149	2	374	0.0054	c.970 others(3): Show c.970C>T	p.Arg others(6): Show p.Arg324Trp	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	7/25	1004/4962	970/3921	324/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63481677	G G	A A	missense_variant missense_variant	MODERATE	HG02155.hp2 NA18947.hp2 HG02155.hp2 NA18947.hp2	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0010 a0013c0021t0010	a0013c0021t0010g0001 a0013c0021t0010g0001	2	374	0.0054	c.105 others(4): Show c.1057G>A	p.Asp others(6): Show p.Asp353Asn	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	7/25	1091/4962	1057/3921	353/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63481680	G G	A A	missense_variant missense_variant	MODERATE	HG01123.hp2 HG02293.hp1 HG01123.hp2 HG02293.hp1	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0002 a0012c0022t0002	a0012c0022t0002g0033 a0012c0022t0002g0033	2	374	0.0054	c.106 others(4): Show c.1060G>A	p.Gly others(6): Show p.Gly354Arg	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	7/25	1094/4962	1060/3921	354/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63482466	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02027.hp1 NA18978.hp2 HG02027.hp1 NA18978.hp2	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0002 a0011c0027t0002	a0011c0027t0002g0002 a0011c0027t0002g0002	2	374	0.0054	c.111 others(4): Show c.1119G>T	p.Arg others(6): Show p.Arg373Ser	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	8/25	1153/4962	1119/3921	373/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63482489	C C	T T	missense_variant missense_variant	MODERATE	HG00558.hp1 HG00558.hp1	a0025 a0025	a0025c0063 a0025c0063	a0025c0063t0001 a0025c0063t0001	a0025c0063t0001g0040 a0025c0063t0001g0040	1	374	0.0027	c.114 others(4): Show c.1142C>T	p.Thr others(6): Show p.Thr381Met	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	8/25	1176/4962	1142/3921	381/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63482672	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02572.hp2 HG02630.hp1 HG01884.hp1 HG02572.hp2 HG02630.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0009 a0008c0014t0001 a0008c0014t0009	a0008c0014t0001g0064 a0008c0014t0009g0025 a0008c0014t0001g0064 a0008c0014t0009g0025	3	374	0.0080	c.132 others(4): Show c.1325G>A	p.Arg others(6): Show p.Arg442His	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	8/25	1359/4962	1325/3921	442/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63483130	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00140.hp2	a0017 a0017	a0017c0047 a0017c0047	a0017c0047t0001 a0017c0047t0001	a0017c0047t0001g0118 a0017c0047t0001g0118	1	374	0.0027	c.144 others(4): Show c.1444C>T	p.Arg others(6): Show p.Arg482Cys	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	9/25	1478/4962	1444/3921	482/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63484395	A A	G G	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02965.hp2 HG03098.hp1 others(2): Show HG02717.hp1 HG02965.hp2 HG03098.hp1 HG03453.hp1 HG03516.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0012 a0004c0009t0003g0139 a0004c0009t0003g0012 a0004c0009t0003g0139	5	374	0.0134	c.177 others(4): Show c.1775A>G	p.Asp others(6): Show p.Asp592Gly	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	12/25	1809/4962	1775/3921	592/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63485248	A A	T T	missense_variant missense_variant	MODERATE	NA18961.hp1 NA18961.hp1	a0023 a0023	a0023c0046 a0023c0046	a0023c0046t0001 a0023c0046t0001	a0023c0046t0001g0119 a0023c0046t0001g0119	1	374	0.0027	c.193 others(4): Show c.1934A>T	p.Asp others(6): Show p.Asp645Val	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	13/25	1968/4962	1934/3921	645/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63486684	G G	A A	missense_variant missense_variant	MODERATE	NA18953.hp1 NA18953.hp1	a0018 a0018	a0018c0049 a0018c0049	a0018c0049t0001 a0018c0049t0001	a0018c0049t0001g0096 a0018c0049t0001g0096	1	374	0.0027	c.218 others(4): Show c.2186G>A	p.Arg others(6): Show p.Arg729Gln	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	14/25	2220/4962	2186/3921	729/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63488974	T T	C C	missense_variant missense_variant	MODERATE	NA18940.hp1 NA18961.hp2 NA18962.hp2 others(2): Show NA18940.hp1 NA18961.hp2 NA18962.hp2 NA19004.hp2 NA19060.hp2	a0003 a0003	a0003c0015 a0003c0026 a0003c0015 a0003c0026	a0003c0015t0002 a0003c0026t0002 a0003c0015t0002 a0003c0026t0002	a0003c0015t0002g0011 a0003c0026t0002g0011 a0003c0026t0002g0087 a0003c0015t0002g0011 a0003c0026t0002g0011 a0003c0026t0002g0087	5	374	0.0134	c.248 others(4): Show c.2483T>C	p.Met others(6): Show p.Met828Thr	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	17/25	2517/4962	2483/3921	828/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63491216	C C	T T	missense_variant missense_variant	MODERATE	HG03927.hp1 HG03927.hp1	a0019 a0019	a0019c0058 a0019c0058	a0019c0058t0002 a0019c0058t0002	a0019c0058t0002g0009 a0019c0058t0002g0009	1	374	0.0027	c.274 others(4): Show c.2747C>T	p.Thr others(6): Show p.Thr916Met	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	19/25	2781/4962	2747/3921	916/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63491272	C C	T T	missense_variant missense_variant	MODERATE	NA18953.hp1 NA18953.hp1	a0018 a0018	a0018c0049 a0018c0049	a0018c0049t0001 a0018c0049t0001	a0018c0049t0001g0096 a0018c0049t0001g0096	1	374	0.0027	c.280 others(4): Show c.2803C>T	p.Pro others(6): Show p.Pro935Ser	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	19/25	2837/4962	2803/3921	935/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63494394	C C	A A	missense_variant missense_variant	MODERATE	HG02622.hp1 HG02622.hp1	a0022 a0022	a0022c0036 a0022c0036	a0022c0036t0008 a0022c0036t0008	a0022c0036t0008g0060 a0022c0036t0008g0060	1	374	0.0027	c.330 others(4): Show c.3304C>A	p.Pro others(7): Show p.Pro1102Thr	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	22/25	3338/4962	3304/3921	1102/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63496854	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02572.hp2 HG02630.hp1 HG01884.hp1 HG02572.hp2 HG02630.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0009 a0008c0014t0001 a0008c0014t0009	a0008c0014t0001g0064 a0008c0014t0009g0025 a0008c0014t0001g0064 a0008c0014t0009g0025	3	374	0.0080	c.356 others(4): Show c.3560C>T	p.Thr others(7): Show p.Thr1187Met	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	24/25	3594/4962	3560/3921	1187/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63496950	T T	C C	missense_variant missense_variant	MODERATE	HG03654.hp1 HG03654.hp1	a0021 a0021	a0021c0040 a0021c0040	a0021c0040t0002 a0021c0040t0002	a0021c0040t0002g0017 a0021c0040t0002g0017	1	374	0.0027	c.365 others(4): Show c.3656T>C	p.Leu others(7): Show p.Leu1219Pro	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	24/25	3690/4962	3656/3921	1219/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63497281	G G	A A	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0020 a0020	a0020c0042 a0020c0042	a0020c0042t0001 a0020c0042t0001	a0020c0042t0001g0116 a0020c0042t0001g0116	1	374	0.0027	c.383 others(4): Show c.3836G>A	p.Arg others(7): Show p.Arg1279Gln	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	25/25	3870/4962	3836/3921	1279/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63497301	C C	A A	missense_variant missense_variant	MODERATE	HG01099.hp2 HG01346.hp1 HG02451.hp1 others(19): Show HG01099.hp2 HG01346.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03540.hp1 NA18522.hp2 NA19030.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0037 a0002c0059 a0002c0003 a0002c0037 a0002c0059	a0002c0003t0003 a0002c0037t0003 a0002c0059t0003 a0002c0003t0003 a0002c0037t0003 a0002c0059t0003	a0002c0003t0003g0003 a0002c0003t0003g0022 a0002c0003t0003g0044 others(6): Show a0002c0003t0003g0003 a0002c0003t0003g0022 a0002c0003t0003g0044 a0002c0003t0003g0056 a0002c0003t0003g0057 a0002c0003t0003g0059 a0002c0003t0003g0157 a0002c0037t0003g0135 a0002c0059t0003g0155	22	374	0.0588	c.385 others(4): Show c.3856C>A	p.Arg others(7): Show p.Arg1286Ser	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	25/25	3890/4962	3856/3921	1286/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63497314	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02257.hp1 HG02572.hp2 others(2): Show HG01884.hp1 HG02257.hp1 HG02572.hp2 HG02630.hp1 HG02723.hp1	a0008 a0010 a0008 a0010	a0008c0014 a0010c0023 a0008c0014 a0010c0023	a0008c0014t0001 a0008c0014t0009 a0010c0023t0001 a0008c0014t0001 a0008c0014t0009 a0010c0023t0001	a0008c0014t0001g0064 a0008c0014t0009g0025 a0010c0023t0001g0023 a0008c0014t0001g0064 a0008c0014t0009g0025 a0010c0023t0001g0023	5	374	0.0134	c.386 others(4): Show c.3869G>A	p.Arg others(7): Show p.Arg1290Gln	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	25/25	3903/4962	3869/3921	1290/1306	chr17	TogoVar
ACHE_chr7_100884994_100900888	100893176	G G	T T	missense_variant missense_variant	MODERATE	HG01168.hp1 HG01169.hp1 HG03831.hp1 others(3): Show HG01168.hp1 HG01169.hp1 HG03831.hp1 HG06807.hp1 NA20752.hp1 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0001 a0002c0003t0002	a0002c0003t0001g0046 a0002c0003t0002g0018 a0002c0003t0002g0047 a0002c0003t0001g0046 a0002c0003t0002g0018 a0002c0003t0002g0047	6	414	0.0145	c.105 others(4): Show c.1057C>A	p.His others(6): Show p.His353Asn	ACHE	ENSG00000087085.16	transcript	ENST00000241069.11	protein_coding	2/5	1164/2172	1057/1845	353/614	chr7	TogoVar
ACHE_chr7_100884994_100900888	100893343	T T	A A	missense_variant missense_variant	MODERATE	NA18965.hp1 NA18965.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0071 a0007c0014t0001g0071	1	414	0.0024	c.890 others(3): Show c.890A>T	p.Asp others(6): Show p.Asp297Val	ACHE	ENSG00000087085.16	transcript	ENST00000241069.11	protein_coding	2/5	997/2172	890/1845	297/614	chr7	TogoVar
ACHE_chr7_100884994_100900888	100893830	G G	C C	missense_variant missense_variant	MODERATE	HG01081.hp2 HG01081.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0061 a0005c0015t0001g0061	1	414	0.0024	c.403 others(3): Show c.403C>G	p.Pro others(6): Show p.Pro135Ala	ACHE	ENSG00000087085.16	transcript	ENST00000241069.11	protein_coding	2/5	510/2172	403/1845	135/614	chr7	TogoVar
ACHE_chr7_100884994_100900888	100894066	G G	A A	missense_variant missense_variant	MODERATE	NA19001.hp1 NA19009.hp2 NA19010.hp2 others(1): Show NA19001.hp1 NA19009.hp2 NA19010.hp2 NA19088.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0022 a0003c0004t0001g0022	4	414	0.0097	c.167 others(3): Show c.167C>T	p.Pro others(5): Show p.Pro56Leu	ACHE	ENSG00000087085.16	transcript	ENST00000241069.11	protein_coding	2/5	274/2172	167/1845	56/614	chr7	TogoVar
ACHE_chr7_100884994_100900888	100894132	C C	T T	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02486.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0007 a0004c0007t0007	a0004c0007t0007g0044 a0004c0007t0007g0044	1	414	0.0024	c.101 others(3): Show c.101G>A	p.Arg others(5): Show p.Arg34Gln	ACHE	ENSG00000087085.16	transcript	ENST00000241069.11	protein_coding	2/5	208/2172	101/1845	34/614	chr7	TogoVar
ACIN1_chr14_23053564_23100136	23061349	G G	A A	missense_variant missense_variant	MODERATE	HG02886.hp2 HG03041.hp1 HG02886.hp2 HG03041.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0304 a0010c0017t0001g0305 a0010c0017t0001g0304 a0010c0017t0001g0305	2	350	0.0057	c.337 others(4): Show c.3373C>T	p.Arg others(7): Show p.Arg1125Cys	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	17/19	3397/4460	3373/3852	1125/1283	chr14	TogoVar
ACIN1_chr14_23053564_23100136	23079720	C C	T T	missense_variant missense_variant	MODERATE	NA19091.hp1 NA19091.hp1	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0001 a0014c0023t0001	a0014c0023t0001g0267 a0014c0023t0001g0267	1	350	0.0029	c.161 others(4): Show c.1615G>A	p.Asp others(6): Show p.Asp539Asn	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	6/19	1639/4460	1615/3852	539/1283	chr14	TogoVar
ACIN1_chr14_23053564_23100136	23079813	G G	A A	missense_variant missense_variant	MODERATE	HG00597.hp1 HG00597.hp1	a0015 a0015	a0015c0025 a0015c0025	a0015c0025t0001 a0015c0025t0001	a0015c0025t0001g0291 a0015c0025t0001g0291	1	350	0.0029	c.152 others(4): Show c.1522C>T	p.Pro others(6): Show p.Pro508Ser	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	6/19	1546/4460	1522/3852	508/1283	chr14	TogoVar
ACIN1_chr14_23053564_23100136	23080076	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00438.hp1 HG00544.hp2 others(35): Show HG00099.hp1 HG00438.hp1 HG00544.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG01074.hp2 HG01261.hp1 HG01993.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02155.hp1 HG02300.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18947.hp1 NA18951.hp1 NA18965.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA19003.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19074.hp1 NA19079.hp2 NA19088.hp1 NA19091.hp2	a0003 a0003	a0003c0004 a0003c0021 a0003c0004 a0003c0021	a0003c0004t0001 a0003c0021t0005 a0003c0004t0001 a0003c0021t0005	a0003c0004t0001g0002 a0003c0004t0001g0006 a0003c0004t0001g0010 others(28): Show a0003c0004t0001g0002 a0003c0004t0001g0006 a0003c0004t0001g0010 a0003c0004t0001g0030 a0003c0004t0001g0069 a0003c0004t0001g0070 a0003c0004t0001g0071 a0003c0004t0001g0072 a0003c0004t0001g0073 a0003c0004t0001g0074 a0003c0004t0001g0076 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 a0003c0004t0001g0081 a0003c0004t0001g0082 a0003c0004t0001g0083 a0003c0004t0001g0084 a0003c0004t0001g0085 a0003c0004t0001g0086 a0003c0004t0001g0087 a0003c0004t0001g0088 a0003c0004t0001g0089 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0092 a0003c0004t0001g0093 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0021t0005g0075	38	350	0.1086	c.125 others(4): Show c.1259C>T	p.Ser others(6): Show p.Ser420Phe	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	6/19	1283/4460	1259/3852	420/1283	chr14	TogoVar
ACIN1_chr14_23053564_23100136	23080110	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00438.hp1 HG00438.hp2 others(176): Show HG00099.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18963.hp1 NA18965.hp1 NA18967.hp2 NA18970.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp2 NA18989.hp2 NA18993.hp1 NA18994.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0006 a0009 a0010 a0012	a0002c0002 a0002c0003 a0002c0016 others(10): Show a0002c0002 a0002c0003 a0002c0016 a0002c0028 a0003c0004 a0003c0021 a0004c0006 a0004c0008 a0006c0009 a0006c0019 a0009c0015 a0010c0017 a0012c0022	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(13): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0003t0001 a0002c0016t0001 a0002c0028t0001 a0003c0004t0001 a0003c0021t0005 a0004c0006t0001 a0004c0008t0002 a0004c0008t0004 a0006c0009t0001 a0006c0019t0001 a0009c0015t0001 a0010c0017t0001 a0012c0022t0001	a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0029 others(149): Show a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0100 a0002c0002t0001g0104 a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0123 a0002c0002t0001g0129 a0002c0002t0001g0218 a0002c0002t0002g0056 a0002c0002t0006g0057 a0002c0003t0001g0001 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0055 a0002c0003t0001g0101 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0105 a0002c0003t0001g0106 a0002c0003t0001g0107 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0110 a0002c0003t0001g0112 a0002c0003t0001g0113 a0002c0003t0001g0114 a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0124 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0137 a0002c0003t0001g0142 a0002c0016t0001g0026 a0002c0016t0001g0027 a0002c0028t0001g0136 a0003c0004t0001g0002 a0003c0004t0001g0006 a0003c0004t0001g0010 a0003c0004t0001g0030 a0003c0004t0001g0069 a0003c0004t0001g0070 a0003c0004t0001g0071 a0003c0004t0001g0072 a0003c0004t0001g0073 a0003c0004t0001g0074 a0003c0004t0001g0076 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 a0003c0004t0001g0081 a0003c0004t0001g0082 a0003c0004t0001g0083 a0003c0004t0001g0084 a0003c0004t0001g0085 a0003c0004t0001g0086 a0003c0004t0001g0087 a0003c0004t0001g0088 a0003c0004t0001g0089 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0092 a0003c0004t0001g0093 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0021t0005g0075 a0004c0006t0001g0004 a0004c0006t0001g0015 a0004c0006t0001g0016 a0004c0006t0001g0096 a0004c0006t0001g0098 a0004c0006t0001g0099 a0004c0006t0001g0185 a0004c0006t0001g0188 a0004c0006t0001g0189 a0004c0006t0001g0191 a0004c0006t0001g0306 a0004c0008t0002g0178 a0004c0008t0002g0179 a0004c0008t0002g0180 a0004c0008t0002g0181 a0004c0008t0002g0183 a0004c0008t0002g0184 a0004c0008t0002g0186 a0004c0008t0002g0187 a0004c0008t0002g0190 a0004c0008t0004g0182 a0006c0009t0001g0017 a0006c0009t0001g0193 a0006c0009t0001g0194 a0006c0009t0001g0195 a0006c0009t0001g0196 a0006c0009t0001g0198 a0006c0019t0001g0028 a0009c0015t0001g0301 a0009c0015t0001g0302 a0009c0015t0001g0303 a0010c0017t0001g0304 a0010c0017t0001g0305 a0012c0022t0001g0097	179	350	0.5114	c.122 others(4): Show c.1225T>C	p.Ser others(6): Show p.Ser409Pro	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	6/19	1249/4460	1225/3852	409/1283	chr14	TogoVar
ACIN1_chr14_23053564_23100136	23080170	C C	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00438.hp1 others(346): Show HG00099.hp1 HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.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 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.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 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.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 HG03017.hp1 HG03017.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 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.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 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018	a0001c0001 a0001c0007 a0001c0012 others(25): Show a0001c0001 a0001c0007 a0001c0012 a0001c0024 a0002c0002 a0002c0003 a0002c0016 a0002c0028 a0003c0004 a0003c0021 a0004c0006 a0004c0008 a0005c0005 a0005c0014 a0006c0009 a0006c0019 a0007c0010 a0007c0013 a0008c0011 a0009c0015 a0010c0017 a0011c0020 a0012c0022 a0014c0023 a0015c0025 a0016c0027 a0017c0029 a0018c0018	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0001c0007t0002 a0001c0012t0001 a0001c0024t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0003t0001 a0002c0016t0001 a0002c0028t0001 a0003c0004t0001 a0003c0021t0005 a0004c0006t0001 a0004c0008t0002 a0004c0008t0004 a0005c0005t0001 a0005c0005t0002 a0005c0005t0007 a0005c0014t0002 a0006c0009t0001 a0006c0019t0001 a0007c0010t0001 a0007c0010t0003 a0007c0013t0001 a0008c0011t0001 a0009c0015t0001 a0010c0017t0001 a0011c0020t0001 a0012c0022t0001 a0014c0023t0001 a0015c0025t0001 a0016c0027t0001 a0017c0029t0001 a0018c0018t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(302): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0197 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0002g0217 a0001c0007t0001g0021 a0001c0007t0001g0022 a0001c0007t0001g0241 a0001c0007t0001g0257 a0001c0007t0001g0263 a0001c0007t0001g0276 a0001c0007t0002g0231 a0001c0007t0002g0234 a0001c0007t0002g0235 a0001c0007t0002g0239 a0001c0007t0002g0287 a0001c0012t0001g0246 a0001c0012t0001g0247 a0001c0012t0001g0248 a0001c0024t0001g0290 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0100 a0002c0002t0001g0104 a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0123 a0002c0002t0001g0129 a0002c0002t0001g0218 a0002c0002t0002g0056 a0002c0002t0006g0057 a0002c0003t0001g0001 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0055 a0002c0003t0001g0101 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0105 a0002c0003t0001g0106 a0002c0003t0001g0107 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0110 a0002c0003t0001g0112 a0002c0003t0001g0113 a0002c0003t0001g0114 a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0124 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0137 a0002c0003t0001g0142 a0002c0016t0001g0026 a0002c0016t0001g0027 a0002c0028t0001g0136 a0003c0004t0001g0002 a0003c0004t0001g0006 a0003c0004t0001g0010 a0003c0004t0001g0030 a0003c0004t0001g0069 a0003c0004t0001g0070 a0003c0004t0001g0071 a0003c0004t0001g0072 a0003c0004t0001g0073 a0003c0004t0001g0074 a0003c0004t0001g0076 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 a0003c0004t0001g0081 a0003c0004t0001g0082 a0003c0004t0001g0083 a0003c0004t0001g0084 a0003c0004t0001g0085 a0003c0004t0001g0086 a0003c0004t0001g0087 a0003c0004t0001g0088 a0003c0004t0001g0089 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0092 a0003c0004t0001g0093 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0021t0005g0075 a0004c0006t0001g0004 a0004c0006t0001g0015 a0004c0006t0001g0016 a0004c0006t0001g0096 a0004c0006t0001g0098 a0004c0006t0001g0099 a0004c0006t0001g0185 a0004c0006t0001g0188 a0004c0006t0001g0189 a0004c0006t0001g0191 a0004c0006t0001g0306 a0004c0008t0002g0178 a0004c0008t0002g0179 a0004c0008t0002g0180 a0004c0008t0002g0181 a0004c0008t0002g0183 a0004c0008t0002g0184 a0004c0008t0002g0186 a0004c0008t0002g0187 a0004c0008t0002g0190 a0004c0008t0004g0182 a0005c0005t0001g0192 a0005c0005t0001g0213 a0005c0005t0002g0018 a0005c0005t0002g0199 a0005c0005t0002g0200 a0005c0005t0002g0201 a0005c0005t0002g0203 a0005c0005t0002g0204 a0005c0005t0002g0205 a0005c0005t0002g0206 a0005c0005t0002g0207 a0005c0005t0002g0208 a0005c0005t0002g0209 a0005c0005t0002g0210 a0005c0005t0007g0202 a0005c0014t0002g0212 a0005c0014t0002g0214 a0005c0014t0002g0215 a0006c0009t0001g0017 a0006c0009t0001g0193 a0006c0009t0001g0194 a0006c0009t0001g0195 a0006c0009t0001g0196 a0006c0009t0001g0198 a0006c0019t0001g0028 a0007c0010t0001g0146 a0007c0010t0001g0147 a0007c0010t0001g0148 a0007c0010t0001g0149 a0007c0010t0003g0143 a0007c0013t0001g0144 a0007c0013t0001g0145 a0007c0013t0001g0150 a0008c0011t0001g0020 a0008c0011t0001g0244 a0008c0011t0001g0245 a0009c0015t0001g0301 a0009c0015t0001g0302 a0009c0015t0001g0303 a0010c0017t0001g0304 a0010c0017t0001g0305 a0011c0020t0001g0266 a0012c0022t0001g0097 a0014c0023t0001g0267 a0015c0025t0001g0291 a0016c0027t0001g0292 a0017c0029t0001g0216 a0018c0018t0001g0025	349	350	0.9971	c.116 others(4): Show c.1165G>C	p.Ala others(6): Show p.Ala389Pro	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	6/19	1189/4460	1165/3852	389/1283	chr14	TogoVar
ACIN1_chr14_23053564_23100136	23080301	G G	A A	missense_variant missense_variant	MODERATE	HG02132.hp2 HG02132.hp2	a0016 a0016	a0016c0027 a0016c0027	a0016c0027t0001 a0016c0027t0001	a0016c0027t0001g0292 a0016c0027t0001g0292	1	350	0.0029	c.103 others(4): Show c.1034C>T	p.Ala others(6): Show p.Ala345Val	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	6/19	1058/4460	1034/3852	345/1283	chr14	TogoVar
ACIN1_chr14_23053564_23100136	23080576	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00438.hp1 HG00438.hp2 others(205): Show HG00099.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18963.hp1 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18993.hp1 NA18994.hp2 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(8): Show a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0017 a0018	a0002c0002 a0002c0003 a0002c0016 others(16): Show a0002c0002 a0002c0003 a0002c0016 a0002c0028 a0003c0004 a0003c0021 a0004c0006 a0004c0008 a0005c0005 a0005c0014 a0006c0009 a0006c0019 a0007c0010 a0007c0013 a0009c0015 a0010c0017 a0012c0022 a0017c0029 a0018c0018	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(22): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0003t0001 a0002c0016t0001 a0002c0028t0001 a0003c0004t0001 a0003c0021t0005 a0004c0006t0001 a0004c0008t0002 a0004c0008t0004 a0005c0005t0001 a0005c0005t0002 a0005c0005t0007 a0005c0014t0002 a0006c0009t0001 a0006c0019t0001 a0007c0010t0001 a0007c0010t0003 a0007c0013t0001 a0009c0015t0001 a0010c0017t0001 a0012c0022t0001 a0017c0029t0001 a0018c0018t0001	a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0029 others(177): Show a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0100 a0002c0002t0001g0104 a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0123 a0002c0002t0001g0129 a0002c0002t0001g0218 a0002c0002t0002g0056 a0002c0002t0006g0057 a0002c0003t0001g0001 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0055 a0002c0003t0001g0101 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0105 a0002c0003t0001g0106 a0002c0003t0001g0107 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0110 a0002c0003t0001g0112 a0002c0003t0001g0113 a0002c0003t0001g0114 a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0124 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0137 a0002c0003t0001g0142 a0002c0016t0001g0026 a0002c0016t0001g0027 a0002c0028t0001g0136 a0003c0004t0001g0002 a0003c0004t0001g0006 a0003c0004t0001g0010 a0003c0004t0001g0030 a0003c0004t0001g0069 a0003c0004t0001g0070 a0003c0004t0001g0071 a0003c0004t0001g0072 a0003c0004t0001g0073 a0003c0004t0001g0074 a0003c0004t0001g0076 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 a0003c0004t0001g0081 a0003c0004t0001g0082 a0003c0004t0001g0083 a0003c0004t0001g0084 a0003c0004t0001g0085 a0003c0004t0001g0086 a0003c0004t0001g0087 a0003c0004t0001g0088 a0003c0004t0001g0089 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0092 a0003c0004t0001g0093 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0021t0005g0075 a0004c0006t0001g0004 a0004c0006t0001g0015 a0004c0006t0001g0016 a0004c0006t0001g0096 a0004c0006t0001g0098 a0004c0006t0001g0099 a0004c0006t0001g0185 a0004c0006t0001g0188 a0004c0006t0001g0189 a0004c0006t0001g0191 a0004c0006t0001g0306 a0004c0008t0002g0178 a0004c0008t0002g0179 a0004c0008t0002g0180 a0004c0008t0002g0181 a0004c0008t0002g0183 a0004c0008t0002g0184 a0004c0008t0002g0186 a0004c0008t0002g0187 a0004c0008t0002g0190 a0004c0008t0004g0182 a0005c0005t0001g0192 a0005c0005t0001g0213 a0005c0005t0002g0018 a0005c0005t0002g0199 a0005c0005t0002g0200 a0005c0005t0002g0201 a0005c0005t0002g0203 a0005c0005t0002g0204 a0005c0005t0002g0205 a0005c0005t0002g0206 a0005c0005t0002g0207 a0005c0005t0002g0208 a0005c0005t0002g0209 a0005c0005t0002g0210 a0005c0005t0007g0202 a0005c0014t0002g0212 a0005c0014t0002g0214 a0005c0014t0002g0215 a0006c0009t0001g0017 a0006c0009t0001g0193 a0006c0009t0001g0194 a0006c0009t0001g0195 a0006c0009t0001g0196 a0006c0009t0001g0198 a0006c0019t0001g0028 a0007c0010t0001g0146 a0007c0010t0001g0147 a0007c0010t0001g0148 a0007c0010t0001g0149 a0007c0010t0003g0143 a0007c0013t0001g0144 a0007c0013t0001g0145 a0007c0013t0001g0150 a0009c0015t0001g0301 a0009c0015t0001g0302 a0009c0015t0001g0303 a0010c0017t0001g0304 a0010c0017t0001g0305 a0012c0022t0001g0097 a0017c0029t0001g0216 a0018c0018t0001g0025	208	350	0.5943	c.759 others(3): Show c.759A>G	p.Ile others(6): Show p.Ile253Met	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	6/19	783/4460	759/3852	253/1283	chr14	TogoVar
ACIN1_chr14_23053564_23100136	23080739	C C	T T	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01884.hp1 HG02257.hp2 others(5): Show HG01109.hp1 HG01884.hp1 HG02257.hp2 HG02622.hp1 HG02965.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp2	a0006 a0006	a0006c0009 a0006c0019 a0006c0009 a0006c0019	a0006c0009t0001 a0006c0019t0001 a0006c0009t0001 a0006c0019t0001	a0006c0009t0001g0017 a0006c0009t0001g0193 a0006c0009t0001g0194 others(4): Show a0006c0009t0001g0017 a0006c0009t0001g0193 a0006c0009t0001g0194 a0006c0009t0001g0195 a0006c0009t0001g0196 a0006c0009t0001g0198 a0006c0019t0001g0028	8	350	0.0229	c.596 others(3): Show c.596G>A	p.Arg others(6): Show p.Arg199Lys	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	6/19	620/4460	596/3852	199/1283	chr14	TogoVar

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