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
ACTN2_chr1_236681499_236769631	236717926	C C	G G	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	c.195 others(3): Show c.195C>G	p.Asp others(5): Show p.Asp65Glu	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	370/4872	195/2685	65/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717927	T T	G G	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	c.196 others(3): Show c.196T>G	p.Phe others(5): Show p.Phe66Val	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	371/4872	196/2685	66/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717930	A A	T T	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	c.199 others(3): Show c.199A>T	p.Arg others(5): Show p.Arg67Trp	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	374/4872	199/2685	67/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717932	G G	C C	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	c.201 others(3): Show c.201G>C	p.Arg others(5): Show p.Arg67Ser	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	376/4872	201/2685	67/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717935	T T	A A	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	c.204 others(3): Show c.204T>A	p.Asn others(5): Show p.Asn68Lys	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	379/4872	204/2685	68/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717939	C C	A A	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	c.208 others(3): Show c.208C>A	p.Leu others(5): Show p.Leu70Ile	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	383/4872	208/2685	70/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717940	T T	A A	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	c.209 others(3): Show c.209T>A	p.Leu others(5): Show p.Leu70His	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	384/4872	209/2685	70/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717944	G G	C C	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	c.213 others(3): Show c.213G>C	p.Lys others(5): Show p.Lys71Asn	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	388/4872	213/2685	71/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717946	T T	A A	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	c.215 others(3): Show c.215T>A	p.Leu others(5): Show p.Leu72His	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	390/4872	215/2685	72/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717949	T T	C C	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	c.218 others(3): Show c.218T>C	p.Met others(5): Show p.Met73Thr	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	393/4872	218/2685	73/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717950	G G	A A	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	c.219 others(3): Show c.219G>A	p.Met others(5): Show p.Met73Ile	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	394/4872	219/2685	73/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717952	T T	G G	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	c.221 others(3): Show c.221T>G	p.Leu others(5): Show p.Leu74Arg	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	396/4872	221/2685	74/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717960	G G	C C	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	c.229 others(3): Show c.229G>C	p.Glu others(5): Show p.Glu77Gln	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	404/4872	229/2685	77/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717964	T T	G G	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	c.233 others(3): Show c.233T>G	p.Val others(5): Show p.Val78Gly	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	408/4872	233/2685	78/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236744668	C C	T T	missense_variant missense_variant	MODERATE	HG02886.hp2 NA18906.hp2 HG02886.hp2 NA18906.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0008 a0003c0012t0008	a0003c0012t0008g0092 a0003c0012t0008g0098 a0003c0012t0008g0092 a0003c0012t0008g0098	2	344	0.0058	c.129 others(4): Show c.1298C>T	p.Ser others(6): Show p.Ser433Leu	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	12/21	1473/4872	1298/2685	433/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236744682	C C	T T	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03098.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0024 a0008c0017t0024	a0008c0017t0024g0099 a0008c0017t0024g0099	1	344	0.0029	c.131 others(4): Show c.1312C>T	p.Arg others(6): Show p.Arg438Trp	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	12/21	1487/4872	1312/2685	438/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236747683	G G	A A	missense_variant missense_variant	MODERATE	HG02015.hp1 HG02080.hp2 HG02083.hp2 others(13): Show HG02015.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 NA18939.hp2 NA18940.hp2 NA18953.hp2 NA18979.hp2 NA18983.hp1 NA18993.hp2 NA19000.hp1 NA19010.hp1 NA19063.hp1 NA19072.hp2 NA19082.hp2	a0002 a0002	a0002c0005 a0002c0008 a0002c0019 others(1): Show a0002c0005 a0002c0008 a0002c0019 a0002c0020	a0002c0005t0004 a0002c0008t0004 a0002c0019t0004 others(1): Show a0002c0005t0004 a0002c0008t0004 a0002c0019t0004 a0002c0020t0002	a0002c0005t0004g0008 a0002c0005t0004g0009 a0002c0005t0004g0035 others(13): Show a0002c0005t0004g0008 a0002c0005t0004g0009 a0002c0005t0004g0035 a0002c0005t0004g0256 a0002c0005t0004g0257 a0002c0005t0004g0294 a0002c0005t0004g0297 a0002c0005t0004g0305 a0002c0005t0004g0306 a0002c0008t0004g0025 a0002c0008t0004g0027 a0002c0008t0004g0168 a0002c0008t0004g0277 a0002c0008t0004g0296 a0002c0019t0004g0002 a0002c0020t0002g0007	16	344	0.0465	c.142 others(4): Show c.1423G>A	p.Asp others(6): Show p.Asp475Asn	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	13/21	1598/4872	1423/2685	475/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236747712	G G	C C	missense_variant missense_variant	MODERATE	HG04184.hp2 HG04184.hp2	a0006 a0006	a0006c0022 a0006c0022	a0006c0022t0001 a0006c0022t0001	a0006c0022t0001g0203 a0006c0022t0001g0203	1	344	0.0029	c.145 others(4): Show c.1452G>C	p.Gln others(6): Show p.Gln484His	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	13/21	1627/4872	1452/2685	484/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236751623	A A	G G	missense_variant missense_variant	MODERATE	HG01192.hp1 HG02257.hp1 HG01192.hp1 HG02257.hp1	a0004 a0004	a0004c0026 a0004c0032 a0004c0026 a0004c0032	a0004c0026t0005 a0004c0032t0017 a0004c0026t0005 a0004c0032t0017	a0004c0026t0005g0076 a0004c0032t0017g0094 a0004c0026t0005g0076 a0004c0032t0017g0094	2	344	0.0058	c.181 others(4): Show c.1810A>G	p.Met others(6): Show p.Met604Val	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	15/21	1985/4872	1810/2685	604/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236751636	G G	A A	missense_variant missense_variant	MODERATE	HG03654.hp1 HG03654.hp1	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0001 a0007c0023t0001	a0007c0023t0001g0332 a0007c0023t0001g0332	1	344	0.0029	c.182 others(4): Show c.1823G>A	p.Arg others(6): Show p.Arg608Gln	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	15/21	1998/4872	1823/2685	608/894	chr1	TogoVar
ACTN3_chr11_66541903_66568334	66547043	G G	C C	missense_variant missense_variant	MODERATE	NA18957.hp1 NA18959.hp2 NA18971.hp2 others(3): Show NA18957.hp1 NA18959.hp2 NA18971.hp2 NA19000.hp2 NA19010.hp1 NA19058.hp1	a0005 a0021 a0022 a0005 a0021 a0022	a0005c0006 a0021c0015 a0022c0014 a0005c0006 a0021c0015 a0022c0014	a0005c0006t0002 a0021c0015t0002 a0022c0014t0002 a0005c0006t0002 a0021c0015t0002 a0022c0014t0002	a0005c0006t0002g0032 a0005c0006t0002g0063 a0005c0006t0002g0075 others(2): Show a0005c0006t0002g0032 a0005c0006t0002g0063 a0005c0006t0002g0075 a0021c0015t0002g0062 a0022c0014t0002g0070	6	400	0.0150	c.106 others(3): Show c.106G>C	p.Asp others(5): Show p.Asp36His	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	1/21	141/2882	106/2706	36/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66551267	T T	A A	missense_variant missense_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0001 a0010c0030t0001	a0010c0030t0001g0173 a0010c0030t0001g0173	1	400	0.0025	c.176 others(3): Show c.176T>A	p.Leu others(5): Show p.Leu59Gln	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	2/21	211/2882	176/2706	59/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66551269	C C	A A	missense_variant missense_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0001 a0010c0030t0001	a0010c0030t0001g0173 a0010c0030t0001g0173	1	400	0.0025	c.178 others(3): Show c.178C>A	p.Arg others(5): Show p.Arg60Ser	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	2/21	213/2882	178/2706	60/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66551270	G G	T T	missense_variant missense_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0001 a0010c0030t0001	a0010c0030t0001g0173 a0010c0030t0001g0173	1	400	0.0025	c.179 others(3): Show c.179G>T	p.Arg others(5): Show p.Arg60Leu	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	2/21	214/2882	179/2706	60/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66551272	A A	G G	missense_variant missense_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0001 a0010c0030t0001	a0010c0030t0001g0173 a0010c0030t0001g0173	1	400	0.0025	c.181 others(3): Show c.181A>G	p.Lys others(5): Show p.Lys61Glu	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	2/21	216/2882	181/2706	61/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66551273	A A	C C	missense_variant missense_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0001 a0010c0030t0001	a0010c0030t0001g0173 a0010c0030t0001g0173	1	400	0.0025	c.182 others(3): Show c.182A>C	p.Lys others(5): Show p.Lys61Thr	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	2/21	217/2882	182/2706	61/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66551275	G G	T T	missense_variant missense_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0001 a0010c0030t0001	a0010c0030t0001g0173 a0010c0030t0001g0173	1	400	0.0025	c.184 others(3): Show c.184G>T	p.Ala others(5): Show p.Ala62Ser	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	2/21	219/2882	184/2706	62/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66551276	C C	G G	missense_variant missense_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0001 a0010c0030t0001	a0010c0030t0001g0173 a0010c0030t0001g0173	1	400	0.0025	c.185 others(3): Show c.185C>G	p.Ala others(5): Show p.Ala62Gly	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	2/21	220/2882	185/2706	62/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66551278	G G	T T	missense_variant missense_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0001 a0010c0030t0001	a0010c0030t0001g0173 a0010c0030t0001g0173	1	400	0.0025	c.187 others(3): Show c.187G>T	p.Gly others(5): Show p.Gly63Cys	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	2/21	222/2882	187/2706	63/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66554559	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0003 a0006c0013t0001g0006 a0006c0013t0001g0003 a0006c0013t0001g0006	2	400	0.0050	c.493 others(3): Show c.493C>T	p.Leu others(6): Show p.Leu165Phe	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	5/21	528/2882	493/2706	165/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66554568	T T	G G	missense_variant missense_variant	MODERATE	NA19058.hp1 NA19058.hp1	a0022 a0022	a0022c0014 a0022c0014	a0022c0014t0002 a0022c0014t0002	a0022c0014t0002g0070 a0022c0014t0002g0070	1	400	0.0025	c.502 others(3): Show c.502T>G	p.Cys others(6): Show p.Cys168Gly	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	5/21	537/2882	502/2706	168/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66555204	G G	A A	missense_variant missense_variant	MODERATE	HG02698.hp1 HG02698.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0001 a0011c0016t0001g0001	1	400	0.0025	c.632 others(3): Show c.632G>A	p.Arg others(6): Show p.Arg211Gln	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	6/21	667/2882	632/2706	211/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66557718	G G	A A	missense_variant missense_variant	MODERATE	HG02165.hp2 HG02165.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0005 a0012c0017t0001g0005	1	400	0.0025	c.917 others(3): Show c.917G>A	p.Arg others(6): Show p.Arg306His	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	10/21	952/2882	917/2706	306/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66557741	C C	T T	missense_variant missense_variant	MODERATE	HG02735.hp1 HG02735.hp1	a0013 a0013	a0013c0029 a0013c0029	a0013c0029t0001 a0013c0029t0001	a0013c0029t0001g0035 a0013c0029t0001g0035	1	400	0.0025	c.940 others(3): Show c.940C>T	p.Arg others(6): Show p.Arg314Cys	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	10/21	975/2882	940/2706	314/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66558112	G G	A A	missense_variant missense_variant	MODERATE	HG02976.hp1 HG02976.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0001 a0014c0018t0001	a0014c0018t0001g0172 a0014c0018t0001g0172	1	400	0.0025	c.121 others(4): Show c.1214G>A	p.Arg others(6): Show p.Arg405Gln	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	11/21	1249/2882	1214/2706	405/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66558147	G G	T T	missense_variant missense_variant	MODERATE	NA18940.hp1 NA18940.hp1	a0020 a0020	a0020c0028 a0020c0028	a0020c0028t0001 a0020c0028t0001	a0020c0028t0001g0001 a0020c0028t0001g0001	1	400	0.0025	c.124 others(4): Show c.1249G>T	p.Ala others(6): Show p.Ala417Ser	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	11/21	1284/2882	1249/2706	417/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66559367	G G	C C	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02055.hp2	a0019 a0019	a0019c0019 a0019c0019	a0019c0019t0001 a0019c0019t0001	a0019c0019t0001g0134 a0019c0019t0001g0134	1	400	0.0025	c.140 others(4): Show c.1408G>C	p.Ala others(6): Show p.Ala470Pro	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	12/21	1443/2882	1408/2706	470/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66560202	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(243): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(13): Show a0001 a0003 a0004 a0005 a0006 a0007 a0010 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022	a0001c0001 a0003c0003 a0003c0004 others(15): Show a0001c0001 a0003c0003 a0003c0004 a0003c0007 a0004c0005 a0005c0006 a0006c0013 a0007c0009 a0010c0030 a0012c0017 a0014c0018 a0015c0020 a0016c0022 a0017c0023 a0018c0021 a0019c0019 a0021c0015 a0022c0014	a0001c0001t0001 a0001c0001t0004 a0003c0003t0001 others(17): Show a0001c0001t0001 a0001c0001t0004 a0003c0003t0001 a0003c0003t0002 a0003c0004t0001 a0003c0007t0001 a0004c0005t0001 a0005c0006t0002 a0006c0013t0001 a0007c0009t0001 a0010c0030t0001 a0012c0017t0001 a0014c0018t0001 a0015c0020t0001 a0016c0022t0001 a0017c0023t0002 a0018c0021t0001 a0019c0019t0001 a0021c0015t0002 a0022c0014t0002	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(125): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0004g0003 a0003c0003t0001g0037 a0003c0003t0002g0002 a0003c0003t0002g0014 a0003c0003t0002g0029 a0003c0003t0002g0049 a0003c0003t0002g0139 a0003c0003t0002g0176 a0003c0003t0002g0177 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0002g0180 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0002g0185 a0003c0004t0001g0008 a0003c0004t0001g0015 a0003c0004t0001g0022 a0003c0004t0001g0056 a0003c0004t0001g0058 a0003c0004t0001g0059 a0003c0004t0001g0060 a0003c0004t0001g0061 a0003c0004t0001g0081 a0003c0007t0001g0187 a0003c0007t0001g0188 a0003c0007t0001g0189 a0004c0005t0001g0012 a0004c0005t0001g0077 a0004c0005t0001g0087 a0005c0006t0002g0032 a0005c0006t0002g0063 a0005c0006t0002g0075 a0006c0013t0001g0003 a0006c0013t0001g0006 a0007c0009t0001g0183 a0007c0009t0001g0184 a0010c0030t0001g0173 a0012c0017t0001g0005 a0014c0018t0001g0172 a0015c0020t0001g0008 a0016c0022t0001g0071 a0017c0023t0002g0029 a0018c0021t0001g0129 a0019c0019t0001g0134 a0021c0015t0002g0062 a0022c0014t0002g0070	246	400	0.6150	c.156 others(4): Show c.1568G>A	p.Arg others(6): Show p.Arg523Gln	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	14/21	1603/2882	1568/2706	523/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66560279	G G	A A	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0008 a0015c0020t0001g0008	1	400	0.0025	c.164 others(4): Show c.1645G>A	p.Val others(6): Show p.Val549Met	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	14/21	1680/2882	1645/2706	549/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66560735	A A	T T	missense_variant missense_variant	MODERATE	NA18957.hp1 NA18957.hp1	a0021 a0021	a0021c0015 a0021c0015	a0021c0015t0002 a0021c0015t0002	a0021c0015t0002g0062 a0021c0015t0002g0062	1	400	0.0025	c.184 others(4): Show c.1840A>T	p.Ile others(6): Show p.Ile614Phe	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	15/21	1875/2882	1840/2706	614/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66561248	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(245): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0014 a0015 a0017 a0018 a0019 a0021 a0022	a0001c0001 a0002c0024 a0003c0003 others(16): Show a0001c0001 a0002c0024 a0003c0003 a0003c0004 a0003c0007 a0004c0005 a0005c0006 a0006c0013 a0007c0009 a0009c0012 a0010c0030 a0012c0017 a0014c0018 a0015c0020 a0017c0023 a0018c0021 a0019c0019 a0021c0015 a0022c0014	a0001c0001t0001 a0001c0001t0004 a0002c0024t0001 others(18): Show a0001c0001t0001 a0001c0001t0004 a0002c0024t0001 a0003c0003t0001 a0003c0003t0002 a0003c0004t0001 a0003c0007t0001 a0004c0005t0001 a0005c0006t0002 a0006c0013t0001 a0007c0009t0001 a0009c0012t0001 a0010c0030t0001 a0012c0017t0001 a0014c0018t0001 a0015c0020t0001 a0017c0023t0002 a0018c0021t0001 a0019c0019t0001 a0021c0015t0002 a0022c0014t0002	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(127): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0004g0003 a0002c0024t0001g0101 a0003c0003t0001g0037 a0003c0003t0002g0002 a0003c0003t0002g0014 a0003c0003t0002g0029 a0003c0003t0002g0049 a0003c0003t0002g0139 a0003c0003t0002g0176 a0003c0003t0002g0177 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0002g0180 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0002g0185 a0003c0004t0001g0008 a0003c0004t0001g0015 a0003c0004t0001g0022 a0003c0004t0001g0056 a0003c0004t0001g0058 a0003c0004t0001g0059 a0003c0004t0001g0060 a0003c0004t0001g0061 a0003c0004t0001g0081 a0003c0007t0001g0187 a0003c0007t0001g0188 a0003c0007t0001g0189 a0004c0005t0001g0012 a0004c0005t0001g0077 a0004c0005t0001g0087 a0005c0006t0002g0032 a0005c0006t0002g0063 a0005c0006t0002g0075 a0006c0013t0001g0003 a0006c0013t0001g0006 a0007c0009t0001g0183 a0007c0009t0001g0184 a0009c0012t0001g0082 a0009c0012t0001g0099 a0010c0030t0001g0173 a0012c0017t0001g0005 a0014c0018t0001g0172 a0015c0020t0001g0008 a0017c0023t0002g0029 a0018c0021t0001g0129 a0019c0019t0001g0134 a0021c0015t0002g0062 a0022c0014t0002g0070	248	400	0.6200	c.188 others(4): Show c.1882T>C	p.Cys others(6): Show p.Cys628Arg	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	16/21	1917/2882	1882/2706	628/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66561270	A A	C C	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00408.hp1 HG00558.hp1 others(72): Show HG00323.hp1 HG00408.hp1 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00735.hp1 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01891.hp2 HG01934.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02818.hp2 HG02965.hp1 HG03098.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04204.hp2 NA18939.hp2 NA18940.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18978.hp2 NA18984.hp1 NA18985.hp1 NA18993.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19010.hp1 NA19011.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp2 NA19067.hp1 NA19079.hp2 NA19087.hp1 NA19090.hp2 NA21309.hp1	a0003 a0005 a0007 others(4): Show a0003 a0005 a0007 a0015 a0017 a0021 a0022	a0003c0003 a0003c0004 a0003c0007 others(6): Show a0003c0003 a0003c0004 a0003c0007 a0005c0006 a0007c0009 a0015c0020 a0017c0023 a0021c0015 a0022c0014	a0003c0003t0001 a0003c0003t0002 a0003c0004t0001 others(7): Show a0003c0003t0001 a0003c0003t0002 a0003c0004t0001 a0003c0007t0001 a0005c0006t0002 a0007c0009t0001 a0015c0020t0001 a0017c0023t0002 a0021c0015t0002 a0022c0014t0002	a0003c0003t0001g0037 a0003c0003t0002g0002 a0003c0003t0002g0014 others(32): Show a0003c0003t0001g0037 a0003c0003t0002g0002 a0003c0003t0002g0014 a0003c0003t0002g0029 a0003c0003t0002g0049 a0003c0003t0002g0139 a0003c0003t0002g0176 a0003c0003t0002g0177 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0002g0180 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0002g0185 a0003c0004t0001g0008 a0003c0004t0001g0015 a0003c0004t0001g0022 a0003c0004t0001g0056 a0003c0004t0001g0058 a0003c0004t0001g0059 a0003c0004t0001g0060 a0003c0004t0001g0061 a0003c0004t0001g0081 a0003c0007t0001g0187 a0003c0007t0001g0188 a0003c0007t0001g0189 a0005c0006t0002g0032 a0005c0006t0002g0063 a0005c0006t0002g0075 a0007c0009t0001g0183 a0007c0009t0001g0184 a0015c0020t0001g0008 a0017c0023t0002g0029 a0021c0015t0002g0062 a0022c0014t0002g0070	75	400	0.1875	c.190 others(4): Show c.1904A>C	p.Glu others(6): Show p.Glu635Ala	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	16/21	1939/2882	1904/2706	635/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66561278	C C	T T	missense_variant missense_variant	MODERATE	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0001 a0002c0027t0001	a0002c0027t0001g0001 a0002c0027t0001g0001	1	400	0.0025	c.191 others(4): Show c.1912C>T	p.Arg others(6): Show p.Arg638Trp	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	16/21	1947/2882	1912/2706	638/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66562261	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(242): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(12): Show a0001 a0003 a0004 a0005 a0006 a0007 a0010 a0012 a0014 a0015 a0016 a0017 a0019 a0021 a0022	a0001c0001 a0003c0003 a0003c0004 others(14): Show a0001c0001 a0003c0003 a0003c0004 a0003c0007 a0004c0005 a0005c0006 a0006c0013 a0007c0009 a0010c0030 a0012c0017 a0014c0018 a0015c0020 a0016c0022 a0017c0023 a0019c0019 a0021c0015 a0022c0014	a0001c0001t0001 a0001c0001t0004 a0003c0003t0001 others(16): Show a0001c0001t0001 a0001c0001t0004 a0003c0003t0001 a0003c0003t0002 a0003c0004t0001 a0003c0007t0001 a0004c0005t0001 a0005c0006t0002 a0006c0013t0001 a0007c0009t0001 a0010c0030t0001 a0012c0017t0001 a0014c0018t0001 a0015c0020t0001 a0016c0022t0001 a0017c0023t0002 a0019c0019t0001 a0021c0015t0002 a0022c0014t0002	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(124): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0004g0003 a0003c0003t0001g0037 a0003c0003t0002g0002 a0003c0003t0002g0014 a0003c0003t0002g0029 a0003c0003t0002g0049 a0003c0003t0002g0139 a0003c0003t0002g0176 a0003c0003t0002g0177 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0002g0180 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0002g0185 a0003c0004t0001g0008 a0003c0004t0001g0015 a0003c0004t0001g0022 a0003c0004t0001g0056 a0003c0004t0001g0058 a0003c0004t0001g0059 a0003c0004t0001g0060 a0003c0004t0001g0061 a0003c0004t0001g0081 a0003c0007t0001g0187 a0003c0007t0001g0188 a0003c0007t0001g0189 a0004c0005t0001g0012 a0004c0005t0001g0077 a0004c0005t0001g0087 a0005c0006t0002g0032 a0005c0006t0002g0063 a0005c0006t0002g0075 a0006c0013t0001g0003 a0006c0013t0001g0006 a0007c0009t0001g0183 a0007c0009t0001g0184 a0010c0030t0001g0173 a0012c0017t0001g0005 a0014c0018t0001g0172 a0015c0020t0001g0008 a0016c0022t0001g0071 a0017c0023t0002g0029 a0019c0019t0001g0134 a0021c0015t0002g0062 a0022c0014t0002g0070	245	400	0.6125	c.232 others(4): Show c.2327A>G	p.Gln others(6): Show p.Gln776Arg	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	19/21	2362/2882	2327/2706	776/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66562291	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02572.hp2 HG02630.hp2 others(4): Show HG01884.hp2 HG02572.hp2 HG02630.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 NA18522.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0012 a0004c0005t0001g0077 a0004c0005t0001g0087 a0004c0005t0001g0012 a0004c0005t0001g0077 a0004c0005t0001g0087	7	400	0.0175	c.235 others(4): Show c.2357G>A	p.Arg others(6): Show p.Arg786Gln	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	19/21	2392/2882	2357/2706	786/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66562871	A A	C C	missense_variant missense_variant	MODERATE	NA19058.hp1 NA19058.hp1	a0022 a0022	a0022c0014 a0022c0014	a0022c0014t0002 a0022c0014t0002	a0022c0014t0002g0070 a0022c0014t0002g0070	1	400	0.0025	c.246 others(4): Show c.2464A>C	p.Ile others(6): Show p.Ile822Leu	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	20/21	2499/2882	2464/2706	822/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66563054	A A	T T	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02647.hp2 HG02615.hp1 HG02647.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0183 a0007c0009t0001g0184 a0007c0009t0001g0183 a0007c0009t0001g0184	2	400	0.0050	c.256 others(4): Show c.2567A>T	p.Glu others(6): Show p.Glu856Val	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	21/21	2602/2882	2567/2706	856/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66563062	C C	T T	missense_variant missense_variant	MODERATE	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0001 a0002c0026t0001	a0002c0026t0001g0124 a0002c0026t0001g0124	1	400	0.0025	c.257 others(4): Show c.2575C>T	p.Arg others(6): Show p.Arg859Cys	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	21/21	2610/2882	2575/2706	859/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66563086	G G	A A	missense_variant missense_variant	MODERATE	HG02080.hp2 HG02080.hp2	a0017 a0017	a0017c0023 a0017c0023	a0017c0023t0002 a0017c0023t0002	a0017c0023t0002g0029 a0017c0023t0002g0029	1	400	0.0025	c.259 others(4): Show c.2599G>A	p.Glu others(6): Show p.Glu867Lys	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	21/21	2634/2882	2599/2706	867/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66563102	G G	A A	missense_variant missense_variant	MODERATE	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0036 a0002c0025t0001g0036	1	400	0.0025	c.261 others(4): Show c.2615G>A	p.Arg others(6): Show p.Arg872His	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	21/21	2650/2882	2615/2706	872/901	chr11	TogoVar

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