Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	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
ACTN4_chr19_38642649_38736589	38706095	C C	T T	missense_variant missense_variant	MODERATE	HG02965.hp1 HG03139.hp2 NA20300.hp2 HG02965.hp1 HG03139.hp2 NA20300.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0011 a0002c0008t0011	a0002c0008t0011g0278 a0002c0008t0011g0279 a0002c0008t0011g0280 a0002c0008t0011g0278 a0002c0008t0011g0279 a0002c0008t0011g0280	3	314	0.0096	c.536 others(3): Show c.536C>T	p.Pro others(6): Show p.Pro179Leu	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	5/21	633/4990	536/2736	179/911	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38728009	G G	A A	missense_variant missense_variant	MODERATE	HG01496.hp2 HG01496.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0052 a0004c0019t0052	a0004c0019t0052g0031 a0004c0019t0052g0031	1	314	0.0032	c.240 others(4): Show c.2401G>A	p.Val others(6): Show p.Val801Met	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	19/21	2498/4990	2401/2736	801/911	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38729325	G G	A A	missense_variant missense_variant	MODERATE	HG02647.hp1 HG02647.hp1	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0001 a0005c0018t0001	a0005c0018t0001g0201 a0005c0018t0001g0201	1	314	0.0032	c.262 others(4): Show c.2629G>A	p.Glu others(6): Show p.Glu877Lys	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	21/21	2726/4990	2629/2736	877/911	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38729366	C C	A A	missense_variant missense_variant	MODERATE	HG02055.hp1 NA21309.hp2 HG02055.hp1 NA21309.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0130 a0003c0009t0002g0208 a0003c0009t0002g0130 a0003c0009t0002g0208	2	314	0.0064	c.267 others(4): Show c.2670C>A	p.Asp others(6): Show p.Asp890Glu	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	21/21	2767/4990	2670/2736	890/911	chr19	TogoVar
ACTR10_chr14_58195149_58240636	58200294	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03195.hp1 HG03195.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0128 a0004c0005t0005g0128	1	322	0.0031	c.77A others(2): Show c.77A>G	p.Lys others(5): Show p.Lys26Arg	ACTR10	ENSG00000131966.14	transcript	ENST00000254286.9	protein_coding	1/13	146/2408	77/1254	26/417	chr14	TogoVar
ACTR10_chr14_58195149_58240636	58223624	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0094 a0002c0004t0001g0094	1	322	0.0031	c.637 others(3): Show c.637C>T	p.Arg others(6): Show p.Arg213Cys	ACTR10	ENSG00000131966.14	transcript	ENST00000254286.9	protein_coding	9/13	706/2408	637/1254	213/417	chr14	TogoVar
ACTR10_chr14_58195149_58240636	58230415	A A	G G	missense_variant missense_variant	MODERATE	NA19072.hp2 NA19072.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0075 a0003c0003t0001g0075	1	322	0.0031	c.805 others(3): Show c.805A>G	p.Ile others(6): Show p.Ile269Val	ACTR10	ENSG00000131966.14	transcript	ENST00000254286.9	protein_coding	11/13	874/2408	805/1254	269/417	chr14	TogoVar
ACTR1A_chr10_102474229_102507712	102485687	C C	G G	missense_variant missense_variant	MODERATE	NA19003.hp1 NA19003.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0232 a0003c0003t0003g0232	1	388	0.0026	c.362 others(3): Show c.362G>C	p.Arg others(6): Show p.Arg121Pro	ACTR1A	ENSG00000138107.13	transcript	ENST00000369905.9	protein_coding	5/11	427/2830	362/1131	121/376	chr10	TogoVar
ACTR1A_chr10_102474229_102507712	102485689	G G	T T	missense_variant missense_variant	MODERATE	NA19003.hp1 NA19003.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0232 a0003c0003t0003g0232	1	388	0.0026	c.360 others(3): Show c.360C>A	p.Asn others(6): Show p.Asn120Lys	ACTR1A	ENSG00000138107.13	transcript	ENST00000369905.9	protein_coding	5/11	425/2830	360/1131	120/376	chr10	TogoVar
ACTR1A_chr10_102474229_102507712	102488251	G G	A A	missense_variant missense_variant	MODERATE	NA18965.hp1 NA18974.hp1 NA19000.hp2 NA18965.hp1 NA18974.hp1 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0094 a0002c0002t0002g0029 a0002c0002t0002g0094	3	388	0.0077	c.214 others(3): Show c.214C>T	p.Arg others(5): Show p.Arg72Cys	ACTR1A	ENSG00000138107.13	transcript	ENST00000369905.9	protein_coding	4/11	279/2830	214/1131	72/376	chr10	TogoVar
ACTR1B_chr2_97650939_97669044	97657489	T T	C C	missense_variant missense_variant	MODERATE	HG02735.hp2 HG02735.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0065 a0004c0009t0002g0065	1	398	0.0025	c.946 others(3): Show c.946A>G	p.Ser others(6): Show p.Ser316Gly	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding	9/11	1100/2204	946/1131	316/376	chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97658005	A A	G G	missense_variant missense_variant	MODERATE	NA20905.hp1 NA20905.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0027 a0005c0008t0001g0027	1	398	0.0025	c.863 others(3): Show c.863T>C	p.Met others(6): Show p.Met288Thr	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding	8/11	1017/2204	863/1131	288/376	chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97658891	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00323.hp1 HG00735.hp2 others(6): Show HG00280.hp2 HG00323.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01358.hp1 NA20752.hp2 NA20805.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0009 a0003c0004t0002g0009	9	398	0.0226	c.428 others(3): Show c.428C>T	p.Ala others(6): Show p.Ala143Val	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding	5/11	582/2204	428/1131	143/376	chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97660627	T T	C C	missense_variant missense_variant	MODERATE	HG00642.hp2 HG01099.hp2 HG01123.hp1 others(47): Show HG00642.hp2 HG01099.hp2 HG01123.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01981.hp2 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp1 NA19030.hp2 NA19070.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0005 a0002c0003t0010 others(1): Show a0002c0003t0003 a0002c0003t0005 a0002c0003t0010 a0002c0003t0011	a0002c0003t0003g0005 a0002c0003t0003g0010 a0002c0003t0003g0013 others(5): Show a0002c0003t0003g0005 a0002c0003t0003g0010 a0002c0003t0003g0013 a0002c0003t0003g0057 a0002c0003t0003g0059 a0002c0003t0005g0007 a0002c0003t0010g0024 a0002c0003t0011g0058	50	398	0.1256	c.133 others(3): Show c.133A>G	p.Met others(5): Show p.Met45Val	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding	3/11	287/2204	133/1131	45/376	chr2	TogoVar
ACTR3B_chr7_152754752_152860378	152823436	A A	G G	missense_variant missense_variant	MODERATE	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0189 a0002c0006t0001g0189	1	310	0.0032	c.779 others(3): Show c.779A>G	p.Asn others(6): Show p.Asn260Ser	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	8/12	910/2213	779/1257	260/418	chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150284767	G G	A A	missense_variant missense_variant	MODERATE	HG02683.hp1 HG03654.hp2 HG02683.hp1 HG03654.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0002 a0007c0007t0001 a0007c0007t0002	a0007c0007t0001g0216 a0007c0007t0002g0184 a0007c0007t0001g0216 a0007c0007t0002g0184	2	294	0.0068	c.550 others(3): Show c.550C>T	p.Arg others(6): Show p.Arg184Cys	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	6/8	678/1157	550/633	184/210	chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150284793	A A	G G	missense_variant missense_variant	MODERATE	NA19085.hp1 NA19085.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0002 a0010c0009t0002	a0010c0009t0002g0076 a0010c0009t0002g0076	1	294	0.0034	c.524 others(3): Show c.524T>C	p.Ile others(6): Show p.Ile175Thr	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	6/8	652/1157	524/633	175/210	chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150284827	T T	C C	missense_variant missense_variant	MODERATE	HG00621.hp2 NA18612.hp2 NA18970.hp1 others(4): Show HG00621.hp2 NA18612.hp2 NA18970.hp1 NA18971.hp1 NA19007.hp1 NA19009.hp2 NA19066.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0002 a0004c0004t0001 a0004c0004t0002	a0004c0004t0001g0051 a0004c0004t0001g0053 a0004c0004t0001g0054 others(4): Show a0004c0004t0001g0051 a0004c0004t0001g0053 a0004c0004t0001g0054 a0004c0004t0001g0234 a0004c0004t0001g0237 a0004c0004t0001g0238 a0004c0004t0002g0236	7	294	0.0238	c.490 others(3): Show c.490A>G	p.Met others(6): Show p.Met164Val	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	6/8	618/1157	490/633	164/210	chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150284838	T T	A A	missense_variant missense_variant	MODERATE	HG02615.hp2 HG02615.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0040 a0009c0010t0001g0040	1	294	0.0034	c.479 others(3): Show c.479A>T	p.Asn others(6): Show p.Asn160Ile	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	6/8	607/1157	479/633	160/210	chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150286476	T T	C C	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(103): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00735.hp1 HG00741.hp1 HG01255.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG02040.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18999.hp1 NA19009.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19077.hp2 NA19086.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0008	a0002c0002 a0002c0008 a0003c0003 others(2): Show a0002c0002 a0002c0008 a0003c0003 a0005c0006 a0008c0011	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0008t0002 a0003c0003t0001 a0003c0003t0002 a0005c0006t0001 a0008c0011t0001	a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0009 others(99): Show a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0019 a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0032 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0043 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0063 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0144 a0002c0002t0001g0149 a0002c0002t0001g0164 a0002c0002t0001g0168 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0180 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0211 a0002c0002t0001g0213 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0224 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0247 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0268 a0002c0002t0001g0270 a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0017 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0023 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0047 a0002c0002t0002g0112 a0002c0002t0002g0125 a0002c0002t0002g0135 a0002c0002t0002g0143 a0002c0002t0002g0150 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0004g0132 a0002c0002t0004g0133 a0002c0002t0006g0287 a0002c0008t0002g0030 a0003c0003t0001g0095 a0003c0003t0001g0136 a0003c0003t0001g0177 a0003c0003t0001g0179 a0003c0003t0001g0186 a0003c0003t0001g0189 a0003c0003t0002g0187 a0003c0003t0002g0212 a0005c0006t0001g0031 a0005c0006t0001g0033 a0005c0006t0001g0034 a0008c0011t0001g0131	106	294	0.3605	c.362 others(3): Show c.362A>G	p.Gln others(6): Show p.Gln121Arg	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	5/8	490/1157	362/633	121/210	chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150289532	G G	A A	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03098.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0131 a0008c0011t0001g0131	1	294	0.0034	c.215 others(3): Show c.215C>T	p.Thr others(5): Show p.Thr72Met	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	4/8	343/1157	215/633	72/210	chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150293355	A A	C C	missense_variant missense_variant	MODERATE	NA18979.hp1 NA18984.hp1 NA19062.hp2 NA18979.hp1 NA18984.hp1 NA19062.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0031 a0005c0006t0001g0033 a0005c0006t0001g0034 a0005c0006t0001g0031 a0005c0006t0001g0033 a0005c0006t0001g0034	3	294	0.0102	c.110 others(3): Show c.110T>G	p.Ile others(5): Show p.Ile37Arg	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	3/8	238/1157	110/633	37/210	chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150293358	C C	A A	missense_variant missense_variant	MODERATE	NA19058.hp2 NA19058.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0245 a0011c0012t0001g0245	1	294	0.0034	c.107 others(3): Show c.107G>T	p.Gly others(5): Show p.Gly36Val	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	3/8	235/1157	107/633	36/210	chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150295290	C C	T T	missense_variant missense_variant	MODERATE	HG02922.hp2 HG03225.hp2 HG03453.hp1 HG02922.hp2 HG03225.hp2 HG03453.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0002 a0006c0005t0001 a0006c0005t0002	a0006c0005t0001g0138 a0006c0005t0002g0110 a0006c0005t0002g0111 a0006c0005t0001g0138 a0006c0005t0002g0110 a0006c0005t0002g0111	3	294	0.0102	c.7G> others(1): Show c.7G>A	p.Glu others(4): Show p.Glu3Lys	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	2/8	135/1157	7/633	3/210	chr7	TogoVar
ACTR3_chr2_113885089_113967596	113931368	A A	G G	missense_variant missense_variant	MODERATE	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0229 a0002c0004t0006g0229	1	390	0.0026	c.404 others(3): Show c.404A>G	p.Asn others(6): Show p.Asn135Ser	ACTR3	ENSG00000115091.12	transcript	ENST00000263238.7	protein_coding	5/12	595/6589	404/1257	135/418	chr2	TogoVar
ACTR5_chr20_38743460_38777520	38750078	G G	A A	missense_variant missense_variant	MODERATE	HG01168.hp2 HG01168.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0116 a0008c0011t0001g0116	1	366	0.0027	c.444 others(3): Show c.444G>A	p.Met others(6): Show p.Met148Ile	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding	2/9	463/2547	444/1824	148/607	chr20	TogoVar
ACTR5_chr20_38743460_38777520	38755119	G G	A A	missense_variant missense_variant	MODERATE	HG01496.hp1 HG01496.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0002 a0009c0010t0001g0002	1	366	0.0027	c.938 others(3): Show c.938G>A	p.Arg others(6): Show p.Arg313Gln	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding	4/9	957/2547	938/1824	313/607	chr20	TogoVar
ACTR5_chr20_38743460_38777520	38756038	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02055.hp2 HG02258.hp1 HG02055.hp2 HG02258.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0123 a0007c0009t0001g0124 a0007c0009t0001g0123 a0007c0009t0001g0124	2	366	0.0055	c.117 others(4): Show c.1175A>C	p.Glu others(6): Show p.Glu392Ala	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding	5/9	1194/2547	1175/1824	392/607	chr20	TogoVar
ACTR5_chr20_38743460_38777520	38766241	G G	A A	missense_variant missense_variant	MODERATE	HG01255.hp2 NA19068.hp1 NA19085.hp1 HG01255.hp2 NA19068.hp1 NA19085.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0005 a0004c0006t0003g0005	3	366	0.0082	c.129 others(4): Show c.1297G>A	p.Val others(6): Show p.Val433Met	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding	7/9	1316/2547	1297/1824	433/607	chr20	TogoVar
ACTR5_chr20_38743460_38777520	38766249	C C	A A	missense_variant missense_variant	MODERATE	NA19072.hp2 NA19072.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0104 a0010c0012t0001g0104	1	366	0.0027	c.130 others(4): Show c.1305C>A	p.Asn others(6): Show p.Asn435Lys	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding	7/9	1324/2547	1305/1824	435/607	chr20	TogoVar
ACTR5_chr20_38743460_38777520	38766290	T T	C C	missense_variant missense_variant	MODERATE	HG02886.hp2 HG02895.hp2 NA18906.hp1 others(1): Show HG02886.hp2 HG02895.hp2 NA18906.hp1 NA20300.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0035 a0003c0005t0001g0075 a0003c0005t0001g0076 a0003c0005t0001g0035 a0003c0005t0001g0075 a0003c0005t0001g0076	4	366	0.0109	c.134 others(4): Show c.1346T>C	p.Ile others(6): Show p.Ile449Thr	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding	7/9	1365/2547	1346/1824	449/607	chr20	TogoVar
ACTR5_chr20_38743460_38777520	38767471	A A	G G	missense_variant missense_variant	MODERATE	HG02602.hp1 HG02738.hp2 NA20752.hp2 HG02602.hp1 HG02738.hp2 NA20752.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0004 a0005c0008t0001g0056 a0005c0008t0001g0004 a0005c0008t0001g0056	3	366	0.0082	c.144 others(4): Show c.1441A>G	p.Lys others(6): Show p.Lys481Glu	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding	8/9	1460/2547	1441/1824	481/607	chr20	TogoVar
ACTR5_chr20_38743460_38777520	38767477	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(175): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01099.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19072.hp2 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0004 a0007 others(2): Show a0002 a0004 a0007 a0008 a0010	a0002c0002 a0002c0003 a0004c0006 others(3): Show a0002c0002 a0002c0003 a0004c0006 a0007c0009 a0008c0011 a0010c0012	a0002c0002t0001 a0002c0002t0002 a0002c0003t0001 others(9): Show a0002c0002t0001 a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0007 a0004c0006t0003 a0007c0009t0001 a0008c0011t0001 a0010c0012t0001	a0002c0002t0001g0001 a0002c0002t0001g0016 a0002c0002t0001g0017 others(70): Show a0002c0002t0001g0001 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0002g0042 a0002c0002t0002g0107 a0002c0003t0001g0047 a0002c0003t0001g0050 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0072 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0002g0008 a0002c0003t0002g0014 a0002c0003t0002g0015 a0002c0003t0002g0090 a0002c0003t0002g0092 a0002c0003t0002g0093 a0002c0003t0002g0094 a0002c0003t0002g0096 a0002c0003t0002g0097 a0002c0003t0003g0005 a0002c0003t0003g0051 a0002c0003t0003g0130 a0002c0003t0003g0131 a0002c0003t0003g0132 a0002c0003t0004g0026 a0002c0003t0004g0038 a0002c0003t0004g0039 a0002c0003t0004g0040 a0002c0003t0004g0091 a0002c0003t0004g0098 a0002c0003t0005g0048 a0002c0003t0005g0125 a0002c0003t0005g0126 a0002c0003t0005g0127 a0002c0003t0007g0005 a0004c0006t0003g0005 a0007c0009t0001g0123 a0007c0009t0001g0124 a0008c0011t0001g0116 a0010c0012t0001g0104	178	366	0.4863	c.144 others(4): Show c.1447A>G	p.Ile others(6): Show p.Ile483Val	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding	8/9	1466/2547	1447/1824	483/607	chr20	TogoVar
ACTR5_chr20_38743460_38777520	38771731	C C	T T	missense_variant missense_variant	MODERATE	HG00438.hp1 NA19002.hp1 NA19082.hp2 HG00438.hp1 NA19002.hp1 NA19082.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0066 a0006c0007t0001g0067 a0006c0007t0001g0071 a0006c0007t0001g0066 a0006c0007t0001g0067 a0006c0007t0001g0071	3	366	0.0082	c.173 others(4): Show c.1739C>T	p.Pro others(6): Show p.Pro580Leu	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding	9/9	1758/2547	1739/1824	580/607	chr20	TogoVar
ACTR6_chr12_100195815_100229424	100210142	G G	T T	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0073 a0002c0005t0001g0073	1	242	0.0041	c.449 others(3): Show c.449G>T	p.Ser others(6): Show p.Ser150Ile	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding	5/11	486/1737	449/1191	150/396	chr12	TogoVar
ACTR8_chr3_53862066_53887152	53871453	A A	G G	missense_variant missense_variant	MODERATE	HG01358.hp1 HG01361.hp1 HG01928.hp1 HG01358.hp1 HG01361.hp1 HG01928.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0023 a0003c0005t0002g0023	3	432	0.0069	c.134 others(4): Show c.1346T>C	p.Ile others(6): Show p.Ile449Thr	ACTR8	ENSG00000113812.14	transcript	ENST00000335754.8	protein_coding	11/13	1397/3579	1346/1875	449/624	chr3	TogoVar
ACTR8_chr3_53862066_53887152	53872407	C C	A A	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0057 a0004c0007t0001g0057	1	432	0.0023	c.127 others(4): Show c.1279G>T	p.Ala others(6): Show p.Ala427Ser	ACTR8	ENSG00000113812.14	transcript	ENST00000335754.8	protein_coding	10/13	1330/3579	1279/1875	427/624	chr3	TogoVar
ACTR8_chr3_53862066_53887152	53880066	G G	A A	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00558.hp1 HG00733.hp1 others(65): Show HG00323.hp2 HG00558.hp1 HG00733.hp1 HG00735.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG01496.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02622.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG03139.hp1 HG03225.hp2 HG03491.hp1 HG03516.hp2 HG03669.hp1 HG03710.hp1 HG04115.hp2 NA18522.hp1 NA18949.hp2 NA18953.hp1 NA18956.hp1 NA18960.hp1 NA18965.hp1 NA18967.hp2 NA18970.hp2 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA19005.hp2 NA19009.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19083.hp1 NA19085.hp2 NA19089.hp2 NA19091.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0020 a0002c0003t0002 a0002c0003t0020	a0002c0003t0002g0005 a0002c0003t0002g0008 a0002c0003t0002g0010 others(13): Show a0002c0003t0002g0005 a0002c0003t0002g0008 a0002c0003t0002g0010 a0002c0003t0002g0016 a0002c0003t0002g0020 a0002c0003t0002g0030 a0002c0003t0002g0066 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0002g0079 a0002c0003t0002g0080 a0002c0003t0002g0081 a0002c0003t0020g0075	68	432	0.1574	c.167 others(3): Show c.167C>T	p.Thr others(5): Show p.Thr56Ile	ACTR8	ENSG00000113812.14	transcript	ENST00000335754.8	protein_coding	2/13	218/3579	167/1875	56/624	chr3	TogoVar
ACTRT1_chrX_128045962_128057403	128051174	A A	T T	missense_variant missense_variant	MODERATE	HG01496.hp1 HG02451.hp1 HG02486.hp1 others(2): Show HG01496.hp1 HG02451.hp1 HG02486.hp1 HG02896.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	5	285	0.0175	c.103 others(4): Show c.1033T>A	p.Ser others(6): Show p.Ser345Thr	ACTRT1	ENSG00000123165.9	transcript	ENST00000371124.5	protein_coding	1/1	1230/1442	1033/1131	345/376	chrX	TogoVar
ACTRT1_chrX_128045962_128057403	128051228	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0009 a0009	a0009c0006 a0009c0006	a0009c0006t0001 a0009c0006t0001	a0009c0006t0001g0000 a0009c0006t0001g0000	1	285	0.0035	c.979 others(3): Show c.979C>T	p.Pro others(6): Show p.Pro327Ser	ACTRT1	ENSG00000123165.9	transcript	ENST00000371124.5	protein_coding	1/1	1176/1442	979/1131	327/376	chrX	TogoVar
ACTRT1_chrX_128045962_128057403	128051262	C C	T T	missense_variant missense_variant	MODERATE	NA18950.hp2 NA18950.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0000 a0006c0008t0001g0000	1	285	0.0035	c.945 others(3): Show c.945G>A	p.Met others(6): Show p.Met315Ile	ACTRT1	ENSG00000123165.9	transcript	ENST00000371124.5	protein_coding	1/1	1142/1442	945/1131	315/376	chrX	TogoVar
ACTRT1_chrX_128045962_128057403	128051268	C C	A A	missense_variant missense_variant	MODERATE	HG01496.hp1 HG02451.hp1 HG02486.hp1 others(2): Show HG01496.hp1 HG02451.hp1 HG02486.hp1 HG02896.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	5	285	0.0175	c.939 others(3): Show c.939G>T	p.Arg others(6): Show p.Arg313Ser	ACTRT1	ENSG00000123165.9	transcript	ENST00000371124.5	protein_coding	1/1	1136/1442	939/1131	313/376	chrX	TogoVar
ACTRT1_chrX_128045962_128057403	128051332	T T	C C	missense_variant missense_variant	MODERATE	HG00438.hp2 HG01934.hp1 HG02698.hp1 HG00438.hp2 HG01934.hp1 HG02698.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0000 a0003c0004t0001g0000	3	285	0.0105	c.875 others(3): Show c.875A>G	p.Asn others(6): Show p.Asn292Ser	ACTRT1	ENSG00000123165.9	transcript	ENST00000371124.5	protein_coding	1/1	1072/1442	875/1131	292/376	chrX	TogoVar
ACTRT1_chrX_128045962_128057403	128051396	G G	A A	missense_variant missense_variant	MODERATE	HG03195.hp1 HG03195.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0000 a0007c0009t0002g0000	1	285	0.0035	c.811 others(3): Show c.811C>T	p.His others(6): Show p.His271Tyr	ACTRT1	ENSG00000123165.9	transcript	ENST00000371124.5	protein_coding	1/1	1008/1442	811/1131	271/376	chrX	TogoVar
ACTRT1_chrX_128045962_128057403	128051447	C C	T T	missense_variant missense_variant	MODERATE	HG02165.hp1 HG02165.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0000 a0008c0007t0001g0000	1	285	0.0035	c.760 others(3): Show c.760G>A	p.Glu others(6): Show p.Glu254Lys	ACTRT1	ENSG00000123165.9	transcript	ENST00000371124.5	protein_coding	1/1	957/1442	760/1131	254/376	chrX	TogoVar
ACTRT1_chrX_128045962_128057403	128051678	C C	T T	missense_variant missense_variant	MODERATE	HG00735.hp2 HG01069.hp1 HG01071.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0000 a0004c0003t0001g0000	3	285	0.0105	c.529 others(3): Show c.529G>A	p.Ala others(6): Show p.Ala177Thr	ACTRT1	ENSG00000123165.9	transcript	ENST00000371124.5	protein_coding	1/1	726/1442	529/1131	177/376	chrX	TogoVar
ACTRT1_chrX_128045962_128057403	128051695	C C	T T	missense_variant missense_variant	MODERATE	HG02129.hp1 HG02129.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0000 a0005c0005t0001g0000	1	285	0.0035	c.512 others(3): Show c.512G>A	p.Gly others(6): Show p.Gly171Asp	ACTRT1	ENSG00000123165.9	transcript	ENST00000371124.5	protein_coding	1/1	709/1442	512/1131	171/376	chrX	TogoVar
ACTRT2_chr1_3016467_3027903	3021831	G G	A A	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02451.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0000 a0008c0008t0001g0000	1	366	0.0027	c.145 others(3): Show c.145G>A	p.Ala others(5): Show p.Ala49Thr	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	365/1437	145/1134	49/377	chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3021858	G G	A A	missense_variant missense_variant	MODERATE	HG03710.hp2 HG03710.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0000 a0006c0009t0001g0000	1	366	0.0027	c.172 others(3): Show c.172G>A	p.Val others(5): Show p.Val58Met	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	392/1437	172/1134	58/377	chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3021864	G G	A A	missense_variant missense_variant	MODERATE	HG02809.hp2 HG02809.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0000 a0007c0010t0001g0000	1	366	0.0027	c.178 others(3): Show c.178G>A	p.Glu others(5): Show p.Glu60Lys	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	398/1437	178/1134	60/377	chr1	TogoVar

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