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	236735642	G G	C C	synonymous_variant synonymous_variant	LOW	HG00323.hp1 HG02083.hp2 HG02129.hp1 others(12): Show HG00323.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 NA18940.hp2 NA18983.hp1 NA18993.hp2 NA19000.hp1 NA19010.hp1 NA19060.hp2 NA19063.hp1 NA19068.hp1 NA19072.hp1 NA19072.hp2 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0001c0021 a0002c0005 others(2): Show a0001c0009 a0001c0021 a0002c0005 a0002c0019 a0002c0020	a0001c0009t0003 a0001c0021t0001 a0002c0005t0004 others(2): Show a0001c0009t0003 a0001c0021t0001 a0002c0005t0004 a0002c0019t0004 a0002c0020t0002	a0001c0009t0003g0012 a0001c0009t0003g0013 a0001c0009t0003g0038 others(12): Show a0001c0009t0003g0012 a0001c0009t0003g0013 a0001c0009t0003g0038 a0001c0021t0001g0254 a0002c0005t0004g0008 a0002c0005t0004g0009 a0002c0005t0004g0035 a0002c0005t0004g0256 a0002c0005t0004g0257 a0002c0005t0004g0294 a0002c0005t0004g0297 a0002c0005t0004g0305 a0002c0005t0004g0306 a0002c0019t0004g0002 a0002c0020t0002g0007	15	344	0.0436	c.705 others(3): Show c.705G>C	p.Val others(6): Show p.Val235Val	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	8/21	880/4872	705/2685	235/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737208	G G	A A	synonymous_variant synonymous_variant	LOW	HG02055.hp2 HG02897.hp2 HG03098.hp1 HG02055.hp2 HG02897.hp2 HG03098.hp1	a0001 a0008 a0001 a0008	a0001c0011 a0008c0017 a0001c0011 a0008c0017	a0001c0011t0004 a0001c0011t0005 a0008c0017t0024 a0001c0011t0004 a0001c0011t0005 a0008c0017t0024	a0001c0011t0004g0101 a0001c0011t0005g0100 a0008c0017t0024g0099 a0001c0011t0004g0101 a0001c0011t0005g0100 a0008c0017t0024g0099	3	344	0.0087	c.870 others(3): Show c.870G>A	p.Ala others(6): Show p.Ala290Ala	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/21	1045/4872	870/2685	290/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236739343	C C	T T	synonymous_variant synonymous_variant	LOW	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0002 a0001c0030t0002	a0001c0030t0002g0267 a0001c0030t0002g0267	1	344	0.0029	c.918 others(3): Show c.918C>T	p.Asn others(6): Show p.Asn306Asn	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	10/21	1093/4872	918/2685	306/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236739352	C C	T T	synonymous_variant synonymous_variant	LOW	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0005 a0001c0029t0005	a0001c0029t0005g0107 a0001c0029t0005g0107	1	344	0.0029	c.927 others(3): Show c.927C>T	p.Pro others(6): Show p.Pro309Pro	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	10/21	1102/4872	927/2685	309/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236744666	G G	A A	synonymous_variant synonymous_variant	LOW	HG01106.hp2 HG01168.hp1 HG02572.hp1 others(9): Show HG01106.hp2 HG01168.hp1 HG02572.hp1 HG02615.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02970.hp1 HG03139.hp1 NA18906.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0007 a0001c0010 a0001c0029 others(2): Show a0001c0007 a0001c0010 a0001c0029 a0001c0031 a0003c0012	a0001c0007t0004 a0001c0007t0015 a0001c0010t0002 others(3): Show a0001c0007t0004 a0001c0007t0015 a0001c0010t0002 a0001c0029t0005 a0001c0031t0005 a0003c0012t0008	a0001c0007t0004g0070 a0001c0007t0004g0083 a0001c0007t0004g0085 others(9): Show a0001c0007t0004g0070 a0001c0007t0004g0083 a0001c0007t0004g0085 a0001c0007t0004g0112 a0001c0007t0015g0096 a0001c0010t0002g0160 a0001c0010t0002g0164 a0001c0010t0002g0183 a0001c0029t0005g0107 a0001c0031t0005g0053 a0003c0012t0008g0092 a0003c0012t0008g0098	12	344	0.0349	c.129 others(4): Show c.1296G>A	p.Ala others(6): Show p.Ala432Ala	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	12/21	1471/4872	1296/2685	432/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236744741	C C	T T	synonymous_variant synonymous_variant	LOW	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0026 a0001c0028t0026	a0001c0028t0026g0106 a0001c0028t0026g0106	1	344	0.0029	c.137 others(4): Show c.1371C>T	p.Arg others(6): Show p.Arg457Arg	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	12/21	1546/4872	1371/2685	457/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236744753	C C	T T	synonymous_variant synonymous_variant	LOW	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0311 a0001c0027t0001g0311	1	344	0.0029	c.138 others(4): Show c.1383C>T	p.Ile others(6): Show p.Ile461Ile	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	12/21	1558/4872	1383/2685	461/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236751607	G G	A A	synonymous_variant synonymous_variant	LOW	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0004 a0002c0019t0004	a0002c0019t0004g0002 a0002c0019t0004g0002	1	344	0.0029	c.179 others(4): Show c.1794G>A	p.Pro others(6): Show p.Pro598Pro	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	15/21	1969/4872	1794/2685	598/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236754039	C C	A A	synonymous_variant synonymous_variant	LOW	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0005 a0001c0029t0005	a0001c0029t0005g0107 a0001c0029t0005g0107	1	344	0.0029	c.193 others(4): Show c.1932C>A	p.Ala others(6): Show p.Ala644Ala	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	16/21	2107/4872	1932/2685	644/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236755120	C C	T T	synonymous_variant synonymous_variant	LOW	HG03098.hp1 HG03098.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0024 a0008c0017t0024	a0008c0017t0024g0099 a0008c0017t0024g0099	1	344	0.0029	c.207 others(4): Show c.2076C>T	p.Ile others(6): Show p.Ile692Ile	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/21	2251/4872	2076/2685	692/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236755183	G G	A A	synonymous_variant synonymous_variant	LOW	HG01243.hp2 HG02451.hp2 HG02717.hp1 others(14): Show HG01243.hp2 HG02451.hp2 HG02717.hp1 HG02717.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp1 HG06807.hp1 NA19030.hp2 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0005 a0001c0004t0002 a0001c0004t0005	a0001c0004t0002g0062 a0001c0004t0002g0064 a0001c0004t0002g0240 others(14): Show a0001c0004t0002g0062 a0001c0004t0002g0064 a0001c0004t0002g0240 a0001c0004t0005g0056 a0001c0004t0005g0057 a0001c0004t0005g0060 a0001c0004t0005g0061 a0001c0004t0005g0063 a0001c0004t0005g0065 a0001c0004t0005g0077 a0001c0004t0005g0081 a0001c0004t0005g0120 a0001c0004t0005g0163 a0001c0004t0005g0177 a0001c0004t0005g0197 a0001c0004t0005g0198 a0001c0004t0005g0199	17	344	0.0494	c.213 others(4): Show c.2139G>A	p.Thr others(6): Show p.Thr713Thr	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/21	2314/4872	2139/2685	713/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236755192	G G	A A	synonymous_variant synonymous_variant	LOW	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0254 a0001c0021t0001g0254	1	344	0.0029	c.214 others(4): Show c.2148G>A	p.Thr others(6): Show p.Thr716Thr	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/21	2323/4872	2148/2685	716/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236757542	G G	A A	synonymous_variant synonymous_variant	LOW	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0003 a0001c0024t0003	a0001c0024t0003g0014 a0001c0024t0003g0014	1	344	0.0029	c.221 others(4): Show c.2211G>A	p.Glu others(6): Show p.Glu737Glu	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	18/21	2386/4872	2211/2685	737/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236757566	A A	G G	synonymous_variant synonymous_variant	LOW	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0006 a0001c0025t0006	a0001c0025t0006g0121 a0001c0025t0006g0121	1	344	0.0029	c.223 others(4): Show c.2235A>G	p.Arg others(6): Show p.Arg745Arg	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	18/21	2410/4872	2235/2685	745/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236762544	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(76): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00621.hp1 HG00642.hp2 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01175.hp2 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01981.hp1 HG02027.hp1 HG02132.hp2 HG02145.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG03098.hp2 HG03130.hp1 HG03239.hp1 HG03486.hp1 HG03579.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18986.hp1 NA18990.hp1 NA18991.hp2 NA18995.hp2 NA18998.hp2 NA19007.hp2 NA19043.hp1 NA19057.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19085.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0006 a0001c0010 others(4): Show a0001c0002 a0001c0006 a0001c0010 a0001c0013 a0001c0030 a0002c0020 a0003c0012	a0001c0002t0002 a0001c0002t0007 a0001c0002t0013 others(8): Show a0001c0002t0002 a0001c0002t0007 a0001c0002t0013 a0001c0006t0002 a0001c0006t0008 a0001c0010t0002 a0001c0013t0002 a0001c0013t0023 a0001c0030t0002 a0002c0020t0002 a0003c0012t0008	a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0072 others(76): Show a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0072 a0001c0002t0002g0079 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0137 a0001c0002t0002g0162 a0001c0002t0002g0165 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0182 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0189 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0196 a0001c0002t0002g0206 a0001c0002t0002g0212 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0220 a0001c0002t0002g0223 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0235 a0001c0002t0002g0237 a0001c0002t0002g0243 a0001c0002t0002g0245 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0255 a0001c0002t0002g0263 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0273 a0001c0002t0002g0278 a0001c0002t0002g0283 a0001c0002t0002g0302 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0007g0034 a0001c0002t0007g0176 a0001c0002t0007g0201 a0001c0002t0007g0209 a0001c0002t0007g0241 a0001c0002t0007g0298 a0001c0002t0007g0300 a0001c0002t0007g0323 a0001c0002t0007g0326 a0001c0002t0013g0161 a0001c0002t0013g0239 a0001c0002t0013g0325 a0001c0006t0002g0049 a0001c0006t0002g0150 a0001c0006t0002g0171 a0001c0006t0008g0127 a0001c0006t0008g0128 a0001c0006t0008g0344 a0001c0010t0002g0160 a0001c0010t0002g0164 a0001c0010t0002g0183 a0001c0013t0002g0054 a0001c0013t0023g0095 a0001c0030t0002g0267 a0002c0020t0002g0007 a0003c0012t0008g0092 a0003c0012t0008g0098	79	344	0.2297	c.261 others(4): Show c.2610G>A	p.Ser others(6): Show p.Ser870Ser	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	21/21	2785/4872	2610/2685	870/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236762592	C C	T T	synonymous_variant synonymous_variant	LOW	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0006 a0001c0018t0006	a0001c0018t0006g0123 a0001c0018t0006g0123	1	344	0.0029	c.265 others(4): Show c.2658C>T	p.Ser others(6): Show p.Ser886Ser	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	21/21	2833/4872	2658/2685	886/894	chr1	TogoVar
ACTN3_chr11_66541903_66568334	66551266	C C	T T	synonymous_variant synonymous_variant	LOW	NA18967.hp2 NA18967.hp2	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0001 a0010c0030t0001	a0010c0030t0001g0173 a0010c0030t0001g0173	1	400	0.0025	c.175 others(3): Show c.175C>T	p.Leu others(5): Show p.Leu59Leu	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	2/21	210/2882	175/2706	59/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66551277	A A	T T	synonymous_variant synonymous_variant	LOW	NA18967.hp2 NA18967.hp2	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0001 a0010c0030t0001	a0010c0030t0001g0173 a0010c0030t0001g0173	1	400	0.0025	c.186 others(3): Show c.186A>T	p.Ala others(5): Show p.Ala62Ala	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	2/21	221/2882	186/2706	62/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66557911	C C	T T	synonymous_variant synonymous_variant	LOW	HG01192.hp1 NA18969.hp1 NA19005.hp1 HG01192.hp1 NA18969.hp1 NA19005.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0040 a0002c0008t0001g0109 a0002c0008t0001g0040 a0002c0008t0001g0109	3	400	0.0075	c.111 others(4): Show c.1110C>T	p.Ser others(6): Show p.Ser370Ser	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	10/21	1145/2882	1110/2706	370/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66558092	G G	A A	synonymous_variant synonymous_variant	LOW	HG02622.hp1 HG03471.hp2 HG03579.hp1 HG02622.hp1 HG03471.hp2 HG03579.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0187 a0003c0007t0001g0188 a0003c0007t0001g0189 a0003c0007t0001g0187 a0003c0007t0001g0188 a0003c0007t0001g0189	3	400	0.0075	c.119 others(4): Show c.1194G>A	p.Ser others(6): Show p.Ser398Ser	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	11/21	1229/2882	1194/2706	398/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66559369	G G	A A	synonymous_variant synonymous_variant	LOW	HG02615.hp1 HG02647.hp2 HG02615.hp1 HG02647.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0183 a0007c0009t0001g0184 a0007c0009t0001g0183 a0007c0009t0001g0184	2	400	0.0050	c.141 others(4): Show c.1410G>A	p.Ala others(6): Show p.Ala470Ala	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	12/21	1445/2882	1410/2706	470/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66560584	A A	G G	synonymous_variant synonymous_variant	LOW	HG00323.hp1 HG00408.hp1 HG00558.hp1 others(71): Show HG00323.hp1 HG00408.hp1 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00735.hp1 HG01109.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 HG02647.hp2 HG02818.hp2 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp1 HG03540.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(5): Show a0003 a0005 a0007 a0009 a0015 a0017 a0021 a0022	a0003c0003 a0003c0004 a0005c0006 others(6): Show a0003c0003 a0003c0004 a0005c0006 a0007c0009 a0009c0012 a0015c0020 a0017c0023 a0021c0015 a0022c0014	a0003c0003t0001 a0003c0003t0002 a0003c0004t0001 others(7): Show a0003c0003t0001 a0003c0003t0002 a0003c0004t0001 a0005c0006t0002 a0007c0009t0001 a0009c0012t0001 a0015c0020t0001 a0017c0023t0002 a0021c0015t0002 a0022c0014t0002	a0003c0003t0001g0037 a0003c0003t0002g0002 a0003c0003t0002g0014 others(31): Show a0003c0003t0001g0037 a0003c0003t0002g0002 a0003c0003t0002g0014 a0003c0003t0002g0029 a0003c0003t0002g0049 a0003c0003t0002g0139 a0003c0003t0002g0176 a0003c0003t0002g0177 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0002g0180 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0002g0185 a0003c0004t0001g0008 a0003c0004t0001g0015 a0003c0004t0001g0022 a0003c0004t0001g0056 a0003c0004t0001g0058 a0003c0004t0001g0059 a0003c0004t0001g0060 a0003c0004t0001g0061 a0003c0004t0001g0081 a0005c0006t0002g0032 a0005c0006t0002g0063 a0005c0006t0002g0075 a0007c0009t0001g0183 a0007c0009t0001g0184 a0009c0012t0001g0082 a0009c0012t0001g0099 a0015c0020t0001g0008 a0017c0023t0002g0029 a0021c0015t0002g0062 a0022c0014t0002g0070	74	400	0.1850	c.168 others(4): Show c.1689A>G	p.Thr others(6): Show p.Thr563Thr	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	15/21	1724/2882	1689/2706	563/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66560728	G G	A A	synonymous_variant synonymous_variant	LOW	HG02615.hp1 HG02647.hp2 HG02615.hp1 HG02647.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0183 a0007c0009t0001g0184 a0007c0009t0001g0183 a0007c0009t0001g0184	2	400	0.0050	c.183 others(4): Show c.1833G>A	p.Pro others(6): Show p.Pro611Pro	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	15/21	1868/2882	1833/2706	611/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66562168	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00642.hp1 HG00735.hp1 HG01255.hp1 others(18): Show HG00642.hp1 HG00735.hp1 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01516.hp2 HG02004.hp2 HG02109.hp1 HG02257.hp1 HG02559.hp1 HG02602.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04204.hp2 NA19079.hp2	a0003 a0015 a0003 a0015	a0003c0004 a0015c0020 a0003c0004 a0015c0020	a0003c0004t0001 a0015c0020t0001 a0003c0004t0001 a0015c0020t0001	a0003c0004t0001g0008 a0003c0004t0001g0015 a0003c0004t0001g0022 others(7): Show a0003c0004t0001g0008 a0003c0004t0001g0015 a0003c0004t0001g0022 a0003c0004t0001g0056 a0003c0004t0001g0058 a0003c0004t0001g0059 a0003c0004t0001g0060 a0003c0004t0001g0061 a0003c0004t0001g0081 a0015c0020t0001g0008	21	400	0.0525	c.232 others(4): Show c.2322G>A	p.Arg others(6): Show p.Arg774Arg	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	18/21	2357/2882	2322/2706	774/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66563151	C C	T T	synonymous_variant synonymous_variant	LOW	NA18612.hp2 NA18944.hp1 NA18612.hp2 NA18944.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0001 a0002c0011t0001g0013 a0002c0011t0001g0001 a0002c0011t0001g0013	2	400	0.0050	c.266 others(4): Show c.2664C>T	p.Tyr others(6): Show p.Tyr888Tyr	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	21/21	2699/2882	2664/2706	888/901	chr11	TogoVar
ACTN4_chr19_38642649_38736589	38700683	C C	T T	synonymous_variant synonymous_variant	LOW	HG00140.hp2 HG00280.hp1 HG01069.hp2 others(7): Show HG00140.hp2 HG00280.hp1 HG01069.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01433.hp2 HG01981.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0008 a0001c0005t0018 others(2): Show a0001c0005t0001 a0001c0005t0008 a0001c0005t0018 a0001c0005t0027 a0001c0005t0028	a0001c0005t0001g0304 a0001c0005t0008g0001 a0001c0005t0008g0004 others(6): Show a0001c0005t0001g0304 a0001c0005t0008g0001 a0001c0005t0008g0004 a0001c0005t0008g0077 a0001c0005t0008g0305 a0001c0005t0018g0307 a0001c0005t0018g0308 a0001c0005t0027g0306 a0001c0005t0028g0001	10	314	0.0319	c.246 others(3): Show c.246C>T	p.Leu others(5): Show p.Leu82Leu	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	2/21	343/4990	246/2736	82/911	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38701021	G G	A A	synonymous_variant synonymous_variant	LOW	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0012 a0001c0011t0012	a0001c0011t0012g0291 a0001c0011t0012g0291	1	314	0.0032	c.297 others(3): Show c.297G>A	p.Pro others(5): Show p.Pro99Pro	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	3/21	394/4990	297/2736	99/911	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38706096	G G	A A	synonymous_variant synonymous_variant	LOW	HG00323.hp1 HG00639.hp2 HG00735.hp1 others(22): Show HG00323.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01243.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02647.hp2 HG02723.hp1 HG02976.hp2 HG03041.hp2 HG03490.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp2 NA18522.hp1 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0012 a0001c0013 others(1): Show a0001c0003 a0001c0012 a0001c0013 a0001c0014	a0001c0003t0003 a0001c0003t0009 a0001c0003t0051 others(3): Show a0001c0003t0003 a0001c0003t0009 a0001c0003t0051 a0001c0012t0003 a0001c0013t0003 a0001c0014t0003	a0001c0003t0003g0087 a0001c0003t0003g0088 a0001c0003t0003g0089 others(22): Show a0001c0003t0003g0087 a0001c0003t0003g0088 a0001c0003t0003g0089 a0001c0003t0003g0090 a0001c0003t0003g0094 a0001c0003t0003g0177 a0001c0003t0003g0178 a0001c0003t0003g0179 a0001c0003t0003g0180 a0001c0003t0003g0184 a0001c0003t0003g0185 a0001c0003t0003g0188 a0001c0003t0003g0191 a0001c0003t0003g0194 a0001c0003t0003g0195 a0001c0003t0003g0213 a0001c0003t0009g0176 a0001c0003t0009g0181 a0001c0003t0009g0182 a0001c0003t0009g0183 a0001c0003t0009g0192 a0001c0003t0051g0189 a0001c0012t0003g0190 a0001c0013t0003g0187 a0001c0014t0003g0193	25	314	0.0796	c.537 others(3): Show c.537G>A	p.Pro others(6): Show p.Pro179Pro	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	5/21	634/4990	537/2736	179/911	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38706105	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp1 HG00423.hp1 others(100): Show HG00099.hp2 HG00140.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00733.hp2 HG00738.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG03098.hp1 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18969.hp1 NA18975.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19070.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0002 a0001c0007 a0001c0010 others(4): Show a0001c0002 a0001c0007 a0001c0010 a0001c0011 a0001c0020 a0004c0019 a0005c0018	a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 others(16): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0012 a0001c0002t0031 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042 a0001c0002t0045 a0001c0002t0050 a0001c0007t0001 a0001c0010t0001 a0001c0011t0012 a0001c0020t0001 a0004c0019t0052 a0005c0018t0001	a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 others(99): Show a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0197 a0001c0002t0001g0218 a0001c0002t0001g0226 a0001c0002t0001g0270 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0289 a0001c0002t0001g0293 a0001c0002t0005g0054 a0001c0002t0007g0023 a0001c0002t0007g0214 a0001c0002t0007g0215 a0001c0002t0007g0216 a0001c0002t0007g0217 a0001c0002t0007g0219 a0001c0002t0007g0220 a0001c0002t0012g0003 a0001c0002t0012g0301 a0001c0002t0031g0046 a0001c0002t0033g0300 a0001c0002t0034g0045 a0001c0002t0035g0050 a0001c0002t0040g0203 a0001c0002t0041g0007 a0001c0002t0042g0290 a0001c0002t0045g0186 a0001c0002t0050g0069 a0001c0007t0001g0200 a0001c0007t0001g0202 a0001c0007t0001g0204 a0001c0010t0001g0134 a0001c0010t0001g0292 a0001c0011t0012g0291 a0001c0020t0001g0234 a0004c0019t0052g0031 a0005c0018t0001g0201	103	314	0.3280	c.546 others(3): Show c.546C>T	p.Asn others(6): Show p.Asn182Asn	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	5/21	643/4990	546/2736	182/911	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38717151	G G	A A	synonymous_variant synonymous_variant	LOW	HG02004.hp2 HG02293.hp1 NA18966.hp2 HG02004.hp2 HG02293.hp1 NA18966.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0046 a0001c0006t0047 a0001c0006t0005 a0001c0006t0046 a0001c0006t0047	a0001c0006t0005g0237 a0001c0006t0046g0238 a0001c0006t0047g0239 a0001c0006t0005g0237 a0001c0006t0046g0238 a0001c0006t0047g0239	3	314	0.0096	c.978 others(3): Show c.978G>A	p.Gln others(6): Show p.Gln326Gln	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	10/21	1075/4990	978/2736	326/911	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38718001	C C	A A	synonymous_variant synonymous_variant	LOW	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0190 a0001c0012t0003g0190	1	314	0.0032	c.121 others(4): Show c.1218C>A	p.Arg others(6): Show p.Arg406Arg	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	11/21	1315/4990	1218/2736	406/911	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38723996	G G	A A	synonymous_variant synonymous_variant	LOW	HG02647.hp1 HG02896.hp1 HG02897.hp1 others(1): Show HG02647.hp1 HG02896.hp1 HG02897.hp1 HG03453.hp2	a0001 a0005 a0001 a0005	a0001c0007 a0005c0018 a0001c0007 a0005c0018	a0001c0007t0001 a0005c0018t0001 a0001c0007t0001 a0005c0018t0001	a0001c0007t0001g0200 a0001c0007t0001g0202 a0001c0007t0001g0204 others(1): Show a0001c0007t0001g0200 a0001c0007t0001g0202 a0001c0007t0001g0204 a0005c0018t0001g0201	4	314	0.0127	c.161 others(4): Show c.1611G>A	p.Ala others(6): Show p.Ala537Ala	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	14/21	1708/4990	1611/2736	537/911	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38724234	C C	T T	synonymous_variant synonymous_variant	LOW	HG02559.hp2 HG03471.hp1 HG02559.hp2 HG03471.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0134 a0001c0010t0001g0292 a0001c0010t0001g0134 a0001c0010t0001g0292	2	314	0.0064	c.177 others(4): Show c.1770C>T	p.Ile others(6): Show p.Ile590Ile	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	15/21	1867/4990	1770/2736	590/911	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38724312	G G	T T	synonymous_variant synonymous_variant	LOW	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0193 a0001c0014t0003g0193	1	314	0.0032	c.184 others(4): Show c.1848G>T	p.Pro others(6): Show p.Pro616Pro	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	15/21	1945/4990	1848/2736	616/911	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38724457	C C	T T	synonymous_variant synonymous_variant	LOW	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0234 a0001c0020t0001g0234	1	314	0.0032	c.190 others(4): Show c.1902C>T	p.Asp others(6): Show p.Asp634Asp	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	16/21	1999/4990	1902/2736	634/911	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38724532	T T	C C	synonymous_variant synonymous_variant	LOW	HG00280.hp2 HG00733.hp1 HG00738.hp1 others(21): Show HG00280.hp2 HG00733.hp1 HG00738.hp1 HG01099.hp1 HG01123.hp2 HG01515.hp2 HG01517.hp2 HG01975.hp1 HG02004.hp2 HG02135.hp2 HG02293.hp1 HG03017.hp1 HG03041.hp1 HG03491.hp2 HG03710.hp1 HG04115.hp1 HG04199.hp2 NA18522.hp2 NA18939.hp2 NA18966.hp2 NA18981.hp1 NA19010.hp1 NA19030.hp2 NA20905.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0005 a0001c0004t0013 a0001c0004t0048 others(3): Show a0001c0004t0005 a0001c0004t0013 a0001c0004t0048 a0001c0006t0005 a0001c0006t0046 a0001c0006t0047	a0001c0004t0005g0095 a0001c0004t0005g0222 a0001c0004t0005g0224 others(21): Show a0001c0004t0005g0095 a0001c0004t0005g0222 a0001c0004t0005g0224 a0001c0004t0005g0225 a0001c0004t0005g0227 a0001c0004t0005g0229 a0001c0004t0005g0230 a0001c0004t0005g0231 a0001c0004t0005g0232 a0001c0004t0005g0233 a0001c0004t0005g0240 a0001c0004t0005g0242 a0001c0004t0005g0243 a0001c0004t0005g0244 a0001c0004t0005g0245 a0001c0004t0005g0246 a0001c0004t0013g0228 a0001c0004t0013g0235 a0001c0004t0013g0236 a0001c0004t0013g0241 a0001c0004t0048g0223 a0001c0006t0005g0237 a0001c0006t0046g0238 a0001c0006t0047g0239	24	314	0.0764	c.197 others(4): Show c.1977T>C	p.Asn others(6): Show p.Asn659Asn	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	16/21	2074/4990	1977/2736	659/911	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38725864	C C	G G	synonymous_variant synonymous_variant	LOW	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0121 a0001c0017t0002g0121	1	314	0.0032	c.215 others(4): Show c.2151C>G	p.Ala others(6): Show p.Ala717Ala	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	17/21	2248/4990	2151/2736	717/911	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38727082	G G	A A	synonymous_variant synonymous_variant	LOW	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0187 a0001c0013t0003g0187	1	314	0.0032	c.231 others(4): Show c.2316G>A	p.Ala others(6): Show p.Ala772Ala	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	18/21	2413/4990	2316/2736	772/911	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38728008	C C	T T	synonymous_variant synonymous_variant	LOW	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0037 a0001c0016t0037	a0001c0016t0037g0165 a0001c0016t0037g0165	1	314	0.0032	c.240 others(4): Show c.2400C>T	p.Asp others(6): Show p.Asp800Asp	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	19/21	2497/4990	2400/2736	800/911	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38729140	T T	C C	synonymous_variant synonymous_variant	LOW	HG00280.hp2 HG00323.hp1 HG00639.hp2 others(46): Show HG00280.hp2 HG00323.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01243.hp1 HG01515.hp2 HG01517.hp2 HG01975.hp1 HG02004.hp2 HG02135.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02647.hp2 HG02723.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03490.hp2 HG03491.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp2 NA18966.hp2 NA18981.hp1 NA19010.hp1 NA19030.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0006 others(3): Show a0001c0003 a0001c0004 a0001c0006 a0001c0012 a0001c0013 a0001c0014	a0001c0003t0003 a0001c0003t0009 a0001c0003t0051 others(9): Show a0001c0003t0003 a0001c0003t0009 a0001c0003t0051 a0001c0004t0005 a0001c0004t0013 a0001c0004t0048 a0001c0006t0005 a0001c0006t0046 a0001c0006t0047 a0001c0012t0003 a0001c0013t0003 a0001c0014t0003	a0001c0003t0003g0087 a0001c0003t0003g0088 a0001c0003t0003g0089 others(46): Show a0001c0003t0003g0087 a0001c0003t0003g0088 a0001c0003t0003g0089 a0001c0003t0003g0090 a0001c0003t0003g0094 a0001c0003t0003g0177 a0001c0003t0003g0178 a0001c0003t0003g0179 a0001c0003t0003g0180 a0001c0003t0003g0184 a0001c0003t0003g0185 a0001c0003t0003g0188 a0001c0003t0003g0191 a0001c0003t0003g0194 a0001c0003t0003g0195 a0001c0003t0003g0213 a0001c0003t0009g0176 a0001c0003t0009g0181 a0001c0003t0009g0182 a0001c0003t0009g0183 a0001c0003t0009g0192 a0001c0003t0051g0189 a0001c0004t0005g0095 a0001c0004t0005g0222 a0001c0004t0005g0224 a0001c0004t0005g0225 a0001c0004t0005g0227 a0001c0004t0005g0229 a0001c0004t0005g0230 a0001c0004t0005g0231 a0001c0004t0005g0232 a0001c0004t0005g0233 a0001c0004t0005g0240 a0001c0004t0005g0242 a0001c0004t0005g0243 a0001c0004t0005g0244 a0001c0004t0005g0245 a0001c0004t0005g0246 a0001c0004t0013g0228 a0001c0004t0013g0235 a0001c0004t0013g0236 a0001c0004t0013g0241 a0001c0004t0048g0223 a0001c0006t0005g0237 a0001c0006t0046g0238 a0001c0006t0047g0239 a0001c0012t0003g0190 a0001c0013t0003g0187 a0001c0014t0003g0193	49	314	0.1561	c.256 others(4): Show c.2563T>C	p.Leu others(6): Show p.Leu855Leu	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	20/21	2660/4990	2563/2736	855/911	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38729384	C C	T T	synonymous_variant synonymous_variant	LOW	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0004 a0001c0015t0004	a0001c0015t0004g0247 a0001c0015t0004g0247	1	314	0.0032	c.268 others(4): Show c.2688C>T	p.Leu others(6): Show p.Leu896Leu	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	21/21	2785/4990	2688/2736	896/911	chr19	TogoVar
ACTR10_chr14_58195149_58240636	58211339	G G	A A	synonymous_variant synonymous_variant	LOW	HG03017.hp2 HG04199.hp1 NA18612.hp1 others(4): Show HG03017.hp2 HG04199.hp1 NA18612.hp1 NA18939.hp2 NA18960.hp1 NA18972.hp1 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0029 a0001c0002t0002g0206 a0001c0002t0002g0243 others(4): Show a0001c0002t0002g0029 a0001c0002t0002g0206 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0004g0029 a0001c0002t0004g0257 a0001c0002t0004g0266	7	322	0.0217	c.390 others(3): Show c.390G>A	p.Thr others(6): Show p.Thr130Thr	ACTR10	ENSG00000131966.14	transcript	ENST00000254286.9	protein_coding	5/13	459/2408	390/1254	130/417	chr14	TogoVar
ACTR1B_chr2_97650939_97669044	97658064	G G	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(217): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18991.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19080.hp1 NA19083.hp2 NA19085.hp2 NA19088.hp2 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0007 a0001c0010 others(3): Show a0001c0002 a0001c0007 a0001c0010 a0002c0003 a0003c0004 a0004c0009	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(11): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0007t0005 a0001c0010t0009 a0002c0003t0003 a0002c0003t0005 a0002c0003t0010 a0002c0003t0011 a0003c0004t0002 a0004c0009t0002	a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0014 others(32): Show a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0014 a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0023 a0001c0002t0002g0040 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0003g0035 a0001c0002t0004g0003 a0001c0002t0004g0029 a0001c0002t0005g0006 a0001c0002t0005g0054 a0001c0002t0005g0055 a0001c0002t0005g0056 a0001c0002t0006g0011 a0001c0002t0006g0026 a0001c0002t0009g0030 a0001c0007t0005g0033 a0001c0010t0009g0031 a0002c0003t0003g0005 a0002c0003t0003g0010 a0002c0003t0003g0013 a0002c0003t0003g0057 a0002c0003t0003g0059 a0002c0003t0005g0007 a0002c0003t0010g0024 a0002c0003t0011g0058 a0003c0004t0002g0009 a0004c0009t0002g0065	220	398	0.5528	c.804 others(3): Show c.804C>G	p.Val others(6): Show p.Val268Val	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding	8/11	958/2204	804/1131	268/376	chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97658880	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0009 a0001c0010t0009	a0001c0010t0009g0031 a0001c0010t0009g0031	1	398	0.0025	c.439 others(3): Show c.439C>T	p.Leu others(6): Show p.Leu147Leu	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding	5/11	593/2204	439/1131	147/376	chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97658986	C C	A A	synonymous_variant synonymous_variant	LOW	HG02074.hp1 HG02083.hp2 HG02074.hp1 HG02083.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0018 a0001c0005t0001g0018	2	398	0.0050	c.333 others(3): Show c.333G>T	p.Thr others(6): Show p.Thr111Thr	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding	5/11	487/2204	333/1131	111/376	chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97658986	C C	T T	synonymous_variant synonymous_variant	LOW	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0033 a0001c0007t0005g0033	1	398	0.0025	c.333 others(3): Show c.333G>A	p.Thr others(6): Show p.Thr111Thr	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding	5/11	487/2204	333/1131	111/376	chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97659430	C C	T T	synonymous_variant synonymous_variant	LOW	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0046 a0001c0006t0001g0046	1	398	0.0025	c.237 others(3): Show c.237G>A	p.Val others(5): Show p.Val79Val	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding	4/11	391/2204	237/1131	79/376	chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97660586	G G	A A	synonymous_variant synonymous_variant	LOW	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0041 a0001c0011t0001g0041	1	398	0.0025	c.174 others(3): Show c.174C>T	p.Ile others(5): Show p.Ile58Ile	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding	3/11	328/2204	174/1131	58/376	chr2	TogoVar
ACTR2_chr2_65222831_65276253	65239908	G G	A A	synonymous_variant synonymous_variant	LOW	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0242 a0001c0003t0002g0242	1	326	0.0031	c.105 others(3): Show c.105G>A	p.Leu others(5): Show p.Leu35Leu	ACTR2	ENSG00000138071.15	transcript	ENST00000260641.10	protein_coding	2/9	184/3783	105/1185	35/394	chr2	TogoVar
ACTR2_chr2_65222831_65276253	65253783	A A	G G	synonymous_variant synonymous_variant	LOW	HG01891.hp2 HG02451.hp1 HG02976.hp1 others(2): Show HG01891.hp2 HG02451.hp1 HG02976.hp1 HG03486.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0211 a0001c0002t0011g0212 a0001c0002t0011g0213 others(2): Show a0001c0002t0011g0211 a0001c0002t0011g0212 a0001c0002t0011g0213 a0001c0002t0011g0214 a0001c0002t0011g0215	5	326	0.0153	c.504 others(3): Show c.504A>G	p.Pro others(6): Show p.Pro168Pro	ACTR2	ENSG00000138071.15	transcript	ENST00000260641.10	protein_coding	5/9	583/3783	504/1185	168/394	chr2	TogoVar

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