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
ACTL6A_chr3_179557926_179593407	179576721	T T	A A	missense_variant missense_variant	MODERATE	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0002 a0003c0006t0001g0002	1	380	0.0026	c.673 others(3): Show c.673T>A	p.Ser others(6): Show p.Ser225Thr	ACTL6A	ENSG00000136518.17	transcript	ENST00000429709.7	protein_coding	7/14	840/1854	673/1290	225/429	chr3	TogoVar
ACTL6B_chr7_100638097_100661448	100647509	G G	C C	missense_variant missense_variant	MODERATE	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0251 a0002c0007t0001g0251	1	360	0.0028	c.694 others(3): Show c.694C>G	p.Pro others(6): Show p.Pro232Ala	ACTL6B	ENSG00000077080.10	transcript	ENST00000160382.10	protein_coding	8/14	788/1524	694/1281	232/426	chr7	TogoVar
ACTL7A_chr9_108857266_108868756	108862581	G G	A A	missense_variant missense_variant	MODERATE	NA18952.hp1 NA18952.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0000 a0008c0006t0001g0000	1	482	0.0021	c.259 others(3): Show c.259G>A	p.Gly others(5): Show p.Gly87Ser	ACTL7A	ENSG00000187003.7	transcript	ENST00000333999.5	protein_coding	1/1	316/1491	259/1308	87/435	chr9	TogoVar
ACTL7A_chr9_108857266_108868756	108862658	T T	G G	missense_variant missense_variant	MODERATE	HG02818.hp1 HG02818.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0000 a0005c0007t0001g0000	1	482	0.0021	c.336 others(3): Show c.336T>G	p.Asn others(6): Show p.Asn112Lys	ACTL7A	ENSG00000187003.7	transcript	ENST00000333999.5	protein_coding	1/1	393/1491	336/1308	112/435	chr9	TogoVar
ACTL7A_chr9_108857266_108868756	108862729	G G	A A	missense_variant missense_variant	MODERATE	HG01175.hp2 HG01175.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0000 a0006c0008t0001g0000	1	482	0.0021	c.407 others(3): Show c.407G>A	p.Arg others(6): Show p.Arg136Gln	ACTL7A	ENSG00000187003.7	transcript	ENST00000333999.5	protein_coding	1/1	464/1491	407/1308	136/435	chr9	TogoVar
ACTL7A_chr9_108857266_108868756	108862803	G G	C C	missense_variant missense_variant	MODERATE	HG01192.hp1 HG01243.hp2 HG01884.hp2 others(13): Show HG01192.hp1 HG01243.hp2 HG01884.hp2 HG02109.hp2 HG02451.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	16	482	0.0332	c.481 others(3): Show c.481G>C	p.Ala others(6): Show p.Ala161Pro	ACTL7A	ENSG00000187003.7	transcript	ENST00000333999.5	protein_coding	1/1	538/1491	481/1308	161/435	chr9	TogoVar
ACTL7A_chr9_108857266_108868756	108863340	G G	A A	missense_variant missense_variant	MODERATE	HG00673.hp1 HG01074.hp2 HG01192.hp1 others(36): Show HG00673.hp1 HG01074.hp2 HG01192.hp1 HG01243.hp2 HG01884.hp2 HG02015.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18998.hp1 NA19000.hp1 NA19030.hp1 NA19067.hp1 NA19072.hp2 NA19077.hp2 NA19078.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0004 a0002c0009 others(1): Show a0002c0002 a0002c0004 a0002c0009 a0003c0003	a0002c0002t0001 a0002c0004t0001 a0002c0009t0001 others(1): Show a0002c0002t0001 a0002c0004t0001 a0002c0009t0001 a0003c0003t0001	a0002c0002t0001g0000 a0002c0004t0001g0000 a0002c0009t0001g0000 others(1): Show a0002c0002t0001g0000 a0002c0004t0001g0000 a0002c0009t0001g0000 a0003c0003t0001g0000	39	482	0.0809	c.101 others(4): Show c.1018G>A	p.Val others(6): Show p.Val340Met	ACTL7A	ENSG00000187003.7	transcript	ENST00000333999.5	protein_coding	1/1	1075/1491	1018/1308	340/435	chr9	TogoVar
ACTL7A_chr9_108857266_108868756	108863349	C C	G G	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01175.hp2 HG01109.hp1 HG01175.hp2	a0006 a0007 a0006 a0007	a0006c0008 a0007c0011 a0006c0008 a0007c0011	a0006c0008t0001 a0007c0011t0001 a0006c0008t0001 a0007c0011t0001	a0006c0008t0001g0000 a0007c0011t0001g0000 a0006c0008t0001g0000 a0007c0011t0001g0000	2	482	0.0042	c.102 others(4): Show c.1027C>G	p.Leu others(6): Show p.Leu343Val	ACTL7A	ENSG00000187003.7	transcript	ENST00000333999.5	protein_coding	1/1	1084/1491	1027/1308	343/435	chr9	TogoVar
ACTL7A_chr9_108857266_108868756	108863425	G G	C C	missense_variant missense_variant	MODERATE	NA18987.hp1 NA19080.hp1 NA19083.hp1 NA18987.hp1 NA19080.hp1 NA19083.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0000 a0004c0005t0001g0000	3	482	0.0062	c.110 others(4): Show c.1103G>C	p.Ser others(6): Show p.Ser368Thr	ACTL7A	ENSG00000187003.7	transcript	ENST00000333999.5	protein_coding	1/1	1160/1491	1103/1308	368/435	chr9	TogoVar
ACTL7B_chr9_108849588_108860986	108854894	G G	C C	missense_variant missense_variant	MODERATE	NA21309.hp1 NA21309.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0000 a0007c0012t0001g0000	1	470	0.0021	c.103 others(4): Show c.1037C>G	p.Thr others(6): Show p.Thr346Ser	ACTL7B	ENSG00000148156.8	transcript	ENST00000374667.5	protein_coding	1/1	1093/1399	1037/1248	346/415	chr9	TogoVar
ACTL7B_chr9_108849588_108860986	108855042	G G	A A	missense_variant missense_variant	MODERATE	NA19012.hp1 NA19012.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0000 a0006c0013t0001g0000	1	470	0.0021	c.889 others(3): Show c.889C>T	p.Arg others(6): Show p.Arg297Cys	ACTL7B	ENSG00000148156.8	transcript	ENST00000374667.5	protein_coding	1/1	945/1399	889/1248	297/415	chr9	TogoVar
ACTL7B_chr9_108849588_108860986	108855458	C C	T T	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0000 a0005c0010t0001g0000	1	470	0.0021	c.473 others(3): Show c.473G>A	p.Ser others(6): Show p.Ser158Asn	ACTL7B	ENSG00000148156.8	transcript	ENST00000374667.5	protein_coding	1/1	529/1399	473/1248	158/415	chr9	TogoVar
ACTL7B_chr9_108849588_108860986	108855547	G G	T T	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02280.hp1 HG02818.hp1 others(5): Show HG02109.hp2 HG02280.hp1 HG02818.hp1 HG02886.hp2 HG03130.hp2 HG03195.hp1 HG03453.hp2 NA21309.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0000 a0003c0007t0001g0000	8	470	0.0170	c.384 others(3): Show c.384C>A	p.Asp others(6): Show p.Asp128Glu	ACTL7B	ENSG00000148156.8	transcript	ENST00000374667.5	protein_coding	1/1	440/1399	384/1248	128/415	chr9	TogoVar
ACTL7B_chr9_108849588_108860986	108855800	C C	A A	missense_variant missense_variant	MODERATE	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0000 a0004c0015t0001g0000	1	470	0.0021	c.131 others(3): Show c.131G>T	p.Arg others(5): Show p.Arg44Met	ACTL7B	ENSG00000148156.8	transcript	ENST00000374667.5	protein_coding	1/1	187/1399	131/1248	44/415	chr9	TogoVar
ACTL8_chr1_17750333_17832063	17823015	G G	T T	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(107): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG03453.hp1 HG03471.hp2 HG03669.hp2 HG03834.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp2 NA18955.hp2 NA18957.hp1 NA18962.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp2 NA18992.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19077.hp1 NA19078.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0011 others(2): Show a0002c0002 a0002c0004 a0002c0011 a0002c0017 a0002c0018	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0004t0001 a0002c0004t0004 a0002c0011t0005 a0002c0017t0001 a0002c0018t0001	a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0016 others(105): Show a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0016 a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0047 a0002c0002t0001g0050 a0002c0002t0001g0054 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0073 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0091 a0002c0002t0001g0095 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0119 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0141 a0002c0002t0001g0147 a0002c0002t0001g0150 a0002c0002t0001g0155 a0002c0002t0001g0170 a0002c0002t0001g0174 a0002c0002t0001g0182 a0002c0002t0001g0193 a0002c0002t0001g0201 a0002c0002t0001g0216 a0002c0002t0001g0218 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0229 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0258 a0002c0002t0001g0260 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0272 a0002c0002t0001g0275 a0002c0002t0001g0278 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0292 a0002c0002t0001g0298 a0002c0002t0001g0312 a0002c0002t0001g0319 a0002c0002t0001g0322 a0002c0002t0001g0337 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0002g0230 a0002c0002t0003g0323 a0002c0002t0007g0299 a0002c0002t0009g0227 a0002c0004t0001g0001 a0002c0004t0001g0028 a0002c0004t0001g0036 a0002c0004t0001g0052 a0002c0004t0001g0060 a0002c0004t0001g0069 a0002c0004t0001g0071 a0002c0004t0001g0075 a0002c0004t0001g0076 a0002c0004t0001g0080 a0002c0004t0001g0092 a0002c0004t0001g0093 a0002c0004t0001g0106 a0002c0004t0001g0169 a0002c0004t0001g0179 a0002c0004t0001g0244 a0002c0004t0001g0245 a0002c0004t0001g0253 a0002c0004t0001g0255 a0002c0004t0001g0261 a0002c0004t0001g0263 a0002c0004t0001g0264 a0002c0004t0001g0265 a0002c0004t0001g0269 a0002c0004t0001g0270 a0002c0004t0001g0271 a0002c0004t0001g0274 a0002c0004t0001g0276 a0002c0004t0001g0279 a0002c0004t0001g0291 a0002c0004t0001g0296 a0002c0004t0001g0320 a0002c0004t0001g0328 a0002c0004t0001g0336 a0002c0004t0004g0236 a0002c0004t0004g0239 a0002c0004t0004g0240 a0002c0004t0004g0243 a0002c0011t0005g0042 a0002c0011t0005g0338 a0002c0017t0001g0023 a0002c0018t0001g0295	110	366	0.3006	c.7G> others(1): Show c.7G>T	p.Ala others(4): Show p.Ala3Ser	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	2/3	203/1841	7/1101	3/366	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17823297	C C	T T	missense_variant missense_variant	MODERATE	HG02735.hp2 HG02735.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0125 a0007c0015t0001g0125	1	366	0.0027	c.289 others(3): Show c.289C>T	p.Pro others(5): Show p.Pro97Ser	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	2/3	485/1841	289/1101	97/366	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17823340	G G	A A	missense_variant missense_variant	MODERATE	NA18979.hp2 NA18979.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0163 a0004c0013t0001g0163	1	366	0.0027	c.332 others(3): Show c.332G>A	p.Arg others(6): Show p.Arg111Gln	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	2/3	528/1841	332/1101	111/366	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17825831	A A	T T	missense_variant missense_variant	MODERATE	NA18993.hp1 NA18993.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0342 a0005c0012t0001g0342	1	366	0.0027	c.413 others(3): Show c.413A>T	p.Tyr others(6): Show p.Tyr138Phe	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	3/3	609/1841	413/1101	138/366	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17826151	C C	T T	missense_variant missense_variant	MODERATE	HG00597.hp2 HG02155.hp1 NA18957.hp2 others(3): Show HG00597.hp2 HG02155.hp1 NA18957.hp2 NA18984.hp1 NA18994.hp1 NA19056.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0046 a0003c0007t0001g0049 a0003c0007t0001g0148 others(3): Show a0003c0007t0001g0046 a0003c0007t0001g0049 a0003c0007t0001g0148 a0003c0007t0001g0199 a0003c0007t0001g0200 a0003c0007t0001g0215	6	366	0.0164	c.733 others(3): Show c.733C>T	p.Arg others(6): Show p.Arg245Cys	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	3/3	929/1841	733/1101	245/366	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17826414	T T	A A	missense_variant missense_variant	MODERATE	NA18993.hp1 NA18993.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0342 a0005c0012t0001g0342	1	366	0.0027	c.996 others(3): Show c.996T>A	p.Asn others(6): Show p.Asn332Lys	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	3/3	1192/1841	996/1101	332/366	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17826482	T T	C C	missense_variant missense_variant	MODERATE	NA18953.hp2 NA18953.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0223 a0006c0014t0001g0223	1	366	0.0027	c.106 others(4): Show c.1064T>C	p.Met others(6): Show p.Met355Thr	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	3/3	1260/1841	1064/1101	355/366	chr1	TogoVar
ACTL9_chr19_8692400_8703795	8697890	C C	G G	missense_variant missense_variant	MODERATE	HG01123.hp1 HG01168.hp1 HG01123.hp1 HG01168.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0000 a0004c0005t0001g0000	2	356	0.0056	c.812 others(3): Show c.812G>C	p.Arg others(6): Show p.Arg271Pro	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding	1/1	906/1396	812/1251	271/416	chr19	TogoVar
ACTL9_chr19_8692400_8703795	8697890	C C	T T	missense_variant missense_variant	MODERATE	NA19240.hp1 NA19240.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0000 a0008c0009t0002g0000	1	356	0.0028	c.812 others(3): Show c.812G>A	p.Arg others(6): Show p.Arg271Gln	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding	1/1	906/1396	812/1251	271/416	chr19	TogoVar
ACTL9_chr19_8692400_8703795	8697946	C C	G G	missense_variant missense_variant	MODERATE	HG03453.hp2 HG03453.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0000 a0007c0008t0001g0000	1	356	0.0028	c.756 others(3): Show c.756G>C	p.Glu others(6): Show p.Glu252Asp	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding	1/1	850/1396	756/1251	252/416	chr19	TogoVar
ACTL9_chr19_8692400_8703795	8698023	T T	G G	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(142): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19078.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20905.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0002 a0002c0004 a0002c0006 others(4): Show a0002c0002 a0002c0004 a0002c0006 a0002c0011 a0003c0003 a0004c0005 a0005c0016	a0002c0002t0001 a0002c0002t0003 a0002c0004t0001 others(5): Show a0002c0002t0001 a0002c0002t0003 a0002c0004t0001 a0002c0006t0001 a0002c0011t0001 a0003c0003t0001 a0004c0005t0001 a0005c0016t0001	a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0004t0001g0000 others(5): Show a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0004t0001g0000 a0002c0006t0001g0000 a0002c0011t0001g0000 a0003c0003t0001g0000 a0004c0005t0001g0000 a0005c0016t0001g0000	145	356	0.4073	c.679 others(3): Show c.679A>C	p.Asn others(6): Show p.Asn227His	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding	1/1	773/1396	679/1251	227/416	chr19	TogoVar
ACTL9_chr19_8692400_8703795	8698275	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00140.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0000 a0005c0016t0001g0000	1	356	0.0028	c.427 others(3): Show c.427G>A	p.Asp others(6): Show p.Asp143Asn	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding	1/1	521/1396	427/1251	143/416	chr19	TogoVar
ACTL9_chr19_8692400_8703795	8698277	T T	G G	missense_variant missense_variant	MODERATE	NA19078.hp1 NA19078.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0000 a0009c0013t0001g0000	1	356	0.0028	c.425 others(3): Show c.425A>C	p.His others(6): Show p.His142Pro	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding	1/1	519/1396	425/1251	142/416	chr19	TogoVar
ACTL9_chr19_8692400_8703795	8698356	T T	C C	missense_variant missense_variant	MODERATE	HG04228.hp2 HG04228.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0002 a0006c0014t0002	a0006c0014t0002g0000 a0006c0014t0002g0000	1	356	0.0028	c.346 others(3): Show c.346A>G	p.Ser others(6): Show p.Ser116Gly	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding	1/1	440/1396	346/1251	116/416	chr19	TogoVar
ACTL9_chr19_8692400_8703795	8698550	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00323.hp1 HG00558.hp2 others(64): Show HG00140.hp2 HG00323.hp1 HG00558.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01943.hp2 HG01981.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02735.hp2 HG02738.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG04115.hp1 NA18948.hp1 NA18959.hp1 NA18964.hp2 NA18989.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19070.hp2 NA19085.hp2 NA19086.hp2 NA19091.hp1 NA20300.hp1 NA20905.hp2	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0003 a0004c0005 a0005c0016 a0003c0003 a0004c0005 a0005c0016	a0003c0003t0001 a0004c0005t0001 a0005c0016t0001 a0003c0003t0001 a0004c0005t0001 a0005c0016t0001	a0003c0003t0001g0000 a0004c0005t0001g0000 a0005c0016t0001g0000 a0003c0003t0001g0000 a0004c0005t0001g0000 a0005c0016t0001g0000	67	356	0.1882	c.152 others(3): Show c.152C>T	p.Ala others(5): Show p.Ala51Val	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding	1/1	246/1396	152/1251	51/416	chr19	TogoVar
ACTL9_chr19_8692400_8703795	8698592	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00323.hp1 HG00558.hp2 others(64): Show HG00140.hp2 HG00323.hp1 HG00558.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01943.hp2 HG01981.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02735.hp2 HG02738.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG04115.hp1 NA18948.hp1 NA18959.hp1 NA18964.hp2 NA18989.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19070.hp2 NA19085.hp2 NA19086.hp2 NA19091.hp1 NA20300.hp1 NA20905.hp2	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0003 a0004c0005 a0005c0016 a0003c0003 a0004c0005 a0005c0016	a0003c0003t0001 a0004c0005t0001 a0005c0016t0001 a0003c0003t0001 a0004c0005t0001 a0005c0016t0001	a0003c0003t0001g0000 a0004c0005t0001g0000 a0005c0016t0001g0000 a0003c0003t0001g0000 a0004c0005t0001g0000 a0005c0016t0001g0000	67	356	0.1882	c.110 others(3): Show c.110C>T	p.Ser others(5): Show p.Ser37Phe	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding	1/1	204/1396	110/1251	37/416	chr19	TogoVar
ACTMAP_chr19_40735861_40755477	40742445	G G	T T	missense_variant missense_variant	MODERATE	HG03579.hp1 HG03579.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0035 a0006c0013t0035	a0006c0013t0035g0143 a0006c0013t0035g0143	1	426	0.0024	c.104 others(4): Show c.1044C>A	p.Asp others(6): Show p.Asp348Glu	ACTMAP	ENSG00000188493.15	transcript	ENST00000378313.7	protein_coding	6/6	1718/3302	1044/1056	348/351	chr19	TogoVar
ACTMAP_chr19_40735861_40755477	40744091	A A	G G	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0021 a0003c0008t0021	a0003c0008t0021g0056 a0003c0008t0021g0056	1	426	0.0024	c.623 others(3): Show c.623T>C	p.Val others(6): Show p.Val208Ala	ACTMAP	ENSG00000188493.15	transcript	ENST00000378313.7	protein_coding	4/6	1297/3302	623/1056	208/351	chr19	TogoVar
ACTMAP_chr19_40735861_40755477	40744125	C C	T T	missense_variant missense_variant	MODERATE	NA18954.hp2 NA18954.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0109 a0004c0007t0005g0109	1	426	0.0024	c.589 others(3): Show c.589G>A	p.Gly others(6): Show p.Gly197Ser	ACTMAP	ENSG00000188493.15	transcript	ENST00000378313.7	protein_coding	4/6	1263/3302	589/1056	197/351	chr19	TogoVar
ACTMAP_chr19_40735861_40755477	40745161	C C	G G	missense_variant missense_variant	MODERATE	HG02027.hp1 HG02027.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0002 a0007c0012t0002	a0007c0012t0002g0136 a0007c0012t0002g0136	1	426	0.0024	c.361 others(3): Show c.361G>C	p.Asp others(6): Show p.Asp121His	ACTMAP	ENSG00000188493.15	transcript	ENST00000378313.7	protein_coding	2/6	1035/3302	361/1056	121/351	chr19	TogoVar
ACTMAP_chr19_40735861_40755477	40749506	T T	A A	missense_variant missense_variant	MODERATE	HG02300.hp1 HG02300.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0009 a0005c0010t0009	a0005c0010t0009g0077 a0005c0010t0009g0077	1	426	0.0024	c.298 others(3): Show c.298A>T	p.Arg others(6): Show p.Arg100Trp	ACTMAP	ENSG00000188493.15	transcript	ENST00000378313.7	protein_coding	1/6	972/3302	298/1056	100/351	chr19	TogoVar
ACTMAP_chr19_40735861_40755477	40749595	C C	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(320): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.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 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0011 a0003c0008 a0004c0007 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0044 a0001c0001t0045 a0001c0003t0003 a0001c0003t0010 a0001c0003t0019 a0001c0003t0020 a0001c0003t0022 a0001c0003t0023 a0001c0003t0030 a0001c0004t0012 a0001c0004t0016 a0001c0004t0017 a0001c0004t0021 a0001c0004t0031 a0001c0006t0012 a0001c0009t0042 a0001c0011t0016 a0003c0008t0021 a0004c0007t0005 a0005c0010t0009	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0019 others(115): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0002g0038 a0001c0001t0004g0004 a0001c0001t0004g0018 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0086 a0001c0001t0005g0005 a0001c0001t0005g0040 a0001c0001t0005g0106 a0001c0001t0005g0108 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0114 a0001c0001t0005g0115 a0001c0001t0005g0120 a0001c0001t0006g0039 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0113 a0001c0001t0007g0009 a0001c0001t0007g0014 a0001c0001t0007g0033 a0001c0001t0007g0073 a0001c0001t0007g0074 a0001c0001t0007g0075 a0001c0001t0008g0007 a0001c0001t0008g0044 a0001c0001t0008g0107 a0001c0001t0008g0118 a0001c0001t0008g0119 a0001c0001t0009g0006 a0001c0001t0011g0015 a0001c0001t0011g0080 a0001c0001t0011g0092 a0001c0001t0011g0104 a0001c0001t0013g0049 a0001c0001t0013g0146 a0001c0001t0013g0147 a0001c0001t0013g0148 a0001c0001t0014g0026 a0001c0001t0014g0150 a0001c0001t0015g0061 a0001c0001t0015g0062 a0001c0001t0015g0063 a0001c0001t0024g0090 a0001c0001t0024g0094 a0001c0001t0025g0036 a0001c0001t0026g0091 a0001c0001t0026g0102 a0001c0001t0027g0037 a0001c0001t0028g0112 a0001c0001t0028g0121 a0001c0001t0033g0105 a0001c0001t0034g0117 a0001c0001t0036g0116 a0001c0001t0037g0122 a0001c0001t0044g0149 a0001c0001t0045g0151 a0001c0003t0003g0003 a0001c0003t0003g0008 a0001c0003t0003g0027 a0001c0003t0003g0029 a0001c0003t0003g0030 a0001c0003t0003g0031 a0001c0003t0003g0050 a0001c0003t0003g0051 a0001c0003t0003g0055 a0001c0003t0010g0013 a0001c0003t0010g0070 a0001c0003t0010g0071 a0001c0003t0010g0072 a0001c0003t0019g0028 a0001c0003t0020g0052 a0001c0003t0020g0053 a0001c0003t0022g0068 a0001c0003t0022g0069 a0001c0003t0023g0032 a0001c0003t0030g0054 a0001c0004t0012g0017 a0001c0004t0012g0057 a0001c0004t0012g0058 a0001c0004t0016g0059 a0001c0004t0016g0066 a0001c0004t0017g0023 a0001c0004t0021g0060 a0001c0004t0031g0065 a0001c0006t0012g0064 a0001c0009t0042g0123 a0001c0011t0016g0067 a0003c0008t0021g0056 a0004c0007t0005g0109 a0005c0010t0009g0077	323	426	0.7582	c.209 others(3): Show c.209G>C	p.Arg others(5): Show p.Arg70Pro	ACTMAP	ENSG00000188493.15	transcript	ENST00000378313.7	protein_coding	1/6	883/3302	209/1056	70/351	chr19	TogoVar
ACTN1_chr14_68869128_68984302	68874936	T T	A A	missense_variant missense_variant	MODERATE	HG01106.hp2 HG01516.hp2 HG01106.hp2 HG01516.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0212 a0004c0008t0003g0223 a0004c0008t0003g0212 a0004c0008t0003g0223	2	284	0.0070	c.266 others(4): Show c.2668A>T	p.Thr others(6): Show p.Thr890Ser	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	22/22	2914/3722	2668/2745	890/914	chr14	TogoVar
ACTN1_chr14_68869128_68984302	68874941	G G	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 NA20129.hp2 HG00741.hp2 NA20129.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0002 a0003c0007t0001 a0003c0007t0002	a0003c0007t0001g0250 a0003c0007t0002g0114 a0003c0007t0001g0250 a0003c0007t0002g0114	2	284	0.0070	c.266 others(4): Show c.2663C>T	p.Pro others(6): Show p.Pro888Leu	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	22/22	2909/3722	2663/2745	888/914	chr14	TogoVar
ACTN1_chr14_68869128_68984302	68874992	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0277 a0005c0015t0001g0277	1	284	0.0035	c.261 others(4): Show c.2612G>A	p.Arg others(6): Show p.Arg871His	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	22/22	2858/3722	2612/2745	871/914	chr14	TogoVar
ACTN1_chr14_68869128_68984302	68875002	C C	T T	missense_variant missense_variant	MODERATE	HG01169.hp1 HG01169.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0002 a0006c0014t0002	a0006c0014t0002g0117 a0006c0014t0002g0117	1	284	0.0035	c.260 others(4): Show c.2602G>A	p.Asp others(6): Show p.Asp868Asn	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	22/22	2848/3722	2602/2745	868/914	chr14	TogoVar
ACTN1_chr14_68869128_68984302	68892267	C C	T T	missense_variant missense_variant	MODERATE	NA18956.hp2 NA19005.hp1 NA18956.hp2 NA19005.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0038 a0002c0006t0004g0111 a0002c0006t0004g0038 a0002c0006t0004g0111	2	284	0.0070	c.872 others(3): Show c.872G>A	p.Arg others(6): Show p.Arg291His	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	10/22	1118/3722	872/2745	291/914	chr14	TogoVar
ACTN2_chr1_236681499_236769631	236717900	A A	C C	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	c.169 others(3): Show c.169A>C	p.Thr others(5): Show p.Thr57Pro	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	344/4872	169/2685	57/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717906	A A	G G	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	c.175 others(3): Show c.175A>G	p.Ile others(5): Show p.Ile59Val	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	350/4872	175/2685	59/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717908	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.177 others(3): Show c.177T>G	p.Ile others(5): Show p.Ile59Met	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	352/4872	177/2685	59/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717912	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.181 others(3): Show c.181A>T	p.Asn others(5): Show p.Asn61Tyr	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	356/4872	181/2685	61/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717916	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.185 others(3): Show c.185T>C	p.Ile others(5): Show p.Ile62Thr	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	360/4872	185/2685	62/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717918	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.187 others(3): Show c.187G>A	p.Glu others(5): Show p.Glu63Lys	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	362/4872	187/2685	63/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717919	A A	G G	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	c.188 others(3): Show c.188A>G	p.Glu others(5): Show p.Glu63Gly	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	363/4872	188/2685	63/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717921	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.190 others(3): Show c.190G>C	p.Glu others(5): Show p.Glu64Gln	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	365/4872	190/2685	64/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717922	A A	C C	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0003 a0005c0033t0003	a0005c0033t0003g0169 a0005c0033t0003g0169	1	344	0.0029	c.191 others(3): Show c.191A>C	p.Glu others(5): Show p.Glu64Ala	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	366/4872	191/2685	64/894	chr1	TogoVar

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