Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
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	a0001c0010t0009g0030 a0001c0010t0009g0030	1	396	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	a0001c0005t0001g0017 a0001c0005t0001g0017	2	395	0.0051	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	a0001c0007t0005g0032 a0001c0007t0005g0032	1	394	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	a0001c0006t0001g0045 a0001c0006t0001g0045	1	396	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	a0001c0011t0001g0040 a0001c0011t0001g0040	1	396	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	a0001c0003t0002g0241 a0001c0003t0002g0241	1	324	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	a0001c0002t0011g0210 a0001c0002t0011g0211 a0001c0002t0011g0212 others(2): Show a0001c0002t0011g0210 a0001c0002t0011g0211 a0001c0002t0011g0212 a0001c0002t0011g0213 a0001c0002t0011g0214	5	324	0.0154	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
ACTR2_chr2_65222831_65276253	65255595	G G	A A	synonymous_variant synonymous_variant	LOW	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0215 a0001c0004t0023g0215	1	324	0.0031	c.636 others(3): Show c.636G>A	p.Thr others(6): Show p.Thr212Thr	ACTR2	ENSG00000138071.15	transcript	ENST00000260641.10	protein_coding	6/9	715/3783	636/1185	212/394	chr2	TogoVar
ACTR3B_chr7_152754752_152860378	152800631	C C	T T	synonymous_variant synonymous_variant	LOW	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0111 a0001c0007t0001g0111	1	308	0.0032	c.201 others(3): Show c.201C>T	p.Ile others(5): Show p.Ile67Ile	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	3/12	332/2213	201/1257	67/418	chr7	TogoVar
ACTR3B_chr7_152754752_152860378	152801683	G G	A A	synonymous_variant synonymous_variant	LOW	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0169 a0001c0003t0003g0169	1	308	0.0032	c.288 others(3): Show c.288G>A	p.Val others(5): Show p.Val96Val	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	4/12	419/2213	288/1257	96/418	chr7	TogoVar
ACTR3B_chr7_152754752_152860378	152823386	C C	T T	synonymous_variant synonymous_variant	LOW	HG01884.hp1 HG02572.hp1 HG01884.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0192 a0001c0002t0001g0194 a0001c0002t0001g0192 a0001c0002t0001g0194	2	308	0.0065	c.729 others(3): Show c.729C>T	p.Ala others(6): Show p.Ala243Ala	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	8/12	860/2213	729/1257	243/418	chr7	TogoVar
ACTR3B_chr7_152754752_152860378	152825098	C C	T T	synonymous_variant synonymous_variant	LOW	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0299 a0001c0005t0001g0299	1	308	0.0032	c.927 others(3): Show c.927C>T	p.Ile others(6): Show p.Ile309Ile	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	9/12	1058/2213	927/1257	309/418	chr7	TogoVar
ACTR3B_chr7_152754752_152860378	152852210	A A	C C	synonymous_variant synonymous_variant	LOW	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0301 a0001c0004t0001g0301	1	308	0.0032	c.103 others(4): Show c.1036A>C	p.Arg others(6): Show p.Arg346Arg	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	10/12	1167/2213	1036/1257	346/418	chr7	TogoVar
ACTR3B_chr7_152754752_152860378	152852239	C C	T T	synonymous_variant synonymous_variant	LOW	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0301 a0001c0004t0001g0301	1	308	0.0032	c.106 others(4): Show c.1065C>T	p.Gly others(6): Show p.Gly355Gly	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	10/12	1196/2213	1065/1257	355/418	chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150293387	A A	G G	synonymous_variant synonymous_variant	LOW	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0031 a0002c0008t0002g0031	1	292	0.0034	c.78T others(2): Show c.78T>C	p.Ser others(5): Show p.Ser26Ser	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	3/8	206/1157	78/633	26/210	chr7	TogoVar
ACTR3_chr2_113885089_113967596	113942200	T T	C C	synonymous_variant synonymous_variant	LOW	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0022 a0001c0002t0010g0022	1	388	0.0026	c.699 others(3): Show c.699T>C	p.Tyr others(6): Show p.Tyr233Tyr	ACTR3	ENSG00000115091.12	transcript	ENST00000263238.7	protein_coding	8/12	890/6589	699/1257	233/418	chr2	TogoVar
ACTR3_chr2_113885089_113967596	113951842	G G	A A	synonymous_variant synonymous_variant	LOW	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0124 a0001c0003t0002g0124	1	388	0.0026	c.107 others(4): Show c.1074G>A	p.Leu others(6): Show p.Leu358Leu	ACTR3	ENSG00000115091.12	transcript	ENST00000263238.7	protein_coding	10/12	1265/6589	1074/1257	358/418	chr2	TogoVar
ACTR5_chr20_38743460_38777520	38748496	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(109): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00741.hp2 HG01099.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG02897.hp2 HG03041.hp1 HG03098.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18972.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19006.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19063.hp1 NA19065.hp1 NA19072.hp2 NA19080.hp1 NA19088.hp2 NA19089.hp2 NA20129.hp1 NA20752.hp1	a0002 a0008 a0010 a0002 a0008 a0010	a0002c0002 a0008c0011 a0010c0012 a0002c0002 a0008c0011 a0010c0012	a0002c0002t0001 a0002c0002t0002 a0008c0011t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0008c0011t0001 a0010c0012t0001	a0002c0002t0001g0001 a0002c0002t0001g0015 a0002c0002t0001g0016 others(35): Show a0002c0002t0001g0001 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0048 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0002g0041 a0002c0002t0002g0099 a0008c0011t0001g0113 a0010c0012t0001g0102	112	364	0.3077	c.18C others(2): Show c.18C>T	p.Phe others(4): Show p.Phe6Phe	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding	1/9	37/2547	18/1824	6/607	chr20	TogoVar
ACTR5_chr20_38743460_38777520	38750048	G G	A A	synonymous_variant synonymous_variant	LOW	HG02055.hp2 HG02258.hp1 HG02055.hp2 HG02258.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0120 a0007c0009t0001g0121 a0007c0009t0001g0120 a0007c0009t0001g0121	2	364	0.0055	c.414 others(3): Show c.414G>A	p.Val others(6): Show p.Val138Val	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding	2/9	433/2547	414/1824	138/607	chr20	TogoVar
ACTR5_chr20_38743460_38777520	38752221	G G	A A	synonymous_variant synonymous_variant	LOW	HG01074.hp2 HG01168.hp1 HG01169.hp1 others(1): Show HG01074.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0002 a0001c0004t0001g0002	4	364	0.0110	c.696 others(3): Show c.696G>A	p.Gly others(6): Show p.Gly232Gly	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding	3/9	715/2547	696/1824	232/607	chr20	TogoVar
ACTR5_chr20_38743460_38777520	38754997	T T	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(109): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00741.hp2 HG01099.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG02897.hp2 HG03041.hp1 HG03098.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18972.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19006.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19063.hp1 NA19065.hp1 NA19072.hp2 NA19080.hp1 NA19088.hp2 NA19089.hp2 NA20129.hp1 NA20752.hp1	a0002 a0008 a0010 a0002 a0008 a0010	a0002c0002 a0008c0011 a0010c0012 a0002c0002 a0008c0011 a0010c0012	a0002c0002t0001 a0002c0002t0002 a0008c0011t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0008c0011t0001 a0010c0012t0001	a0002c0002t0001g0001 a0002c0002t0001g0015 a0002c0002t0001g0016 others(35): Show a0002c0002t0001g0001 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0048 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0002g0041 a0002c0002t0002g0099 a0008c0011t0001g0113 a0010c0012t0001g0102	112	364	0.3077	c.816 others(3): Show c.816T>C	p.Asn others(6): Show p.Asn272Asn	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding	4/9	835/2547	816/1824	272/607	chr20	TogoVar
ACTR6_chr12_100195815_100229424	100200887	C C	T T	synonymous_variant synonymous_variant	LOW	HG00544.hp1 HG02056.hp2 NA18942.hp2 others(3): Show HG00544.hp1 HG02056.hp2 NA18942.hp2 NA18960.hp1 NA18981.hp1 NA19078.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0037 a0001c0003t0002g0040 a0001c0003t0002g0041 others(3): Show a0001c0003t0002g0037 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0044 a0001c0003t0002g0117	6	240	0.0250	c.36C others(2): Show c.36C>T	p.Asn others(5): Show p.Asn12Asn	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding	1/11	73/1737	36/1191	12/396	chr12	TogoVar
ACTR6_chr12_100195815_100229424	100205720	C C	T T	synonymous_variant synonymous_variant	LOW	HG02486.hp2 HG02717.hp1 HG02976.hp2 others(3): Show HG02486.hp2 HG02717.hp1 HG02976.hp2 HG03209.hp1 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0005 a0001c0002t0002g0034 a0001c0002t0002g0035	6	240	0.0250	c.231 others(3): Show c.231C>T	p.Tyr others(5): Show p.Tyr77Tyr	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding	3/11	268/1737	231/1191	77/396	chr12	TogoVar
ACTR6_chr12_100195815_100229424	100210089	A A	C C	synonymous_variant synonymous_variant	LOW	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0133 a0001c0006t0001g0133	1	240	0.0042	c.396 others(3): Show c.396A>C	p.Ala others(6): Show p.Ala132Ala	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding	5/11	433/1737	396/1191	132/396	chr12	TogoVar
ACTR6_chr12_100195815_100229424	100210116	C C	T T	synonymous_variant synonymous_variant	LOW	HG01891.hp2 HG02109.hp2 HG01891.hp2 HG02109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0047 a0001c0004t0001g0048 a0001c0004t0001g0047 a0001c0004t0001g0048	2	240	0.0083	c.423 others(3): Show c.423C>T	p.Ser others(6): Show p.Ser141Ser	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding	5/11	460/1737	423/1191	141/396	chr12	TogoVar
ACTR8_chr3_53862066_53887152	53871281	T T	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(349): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0002c0003 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0021 a0001c0004t0001 a0001c0006t0001 a0001c0008t0001 a0002c0003t0002 a0002c0003t0020 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(82): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0002g0030 a0001c0001t0002g0067 a0001c0001t0002g0095 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0012 a0001c0001t0003g0017 a0001c0001t0003g0021 a0001c0001t0003g0029 a0001c0001t0003g0065 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0004g0009 a0001c0001t0004g0064 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0005g0072 a0001c0001t0006g0025 a0001c0001t0007g0046 a0001c0001t0007g0054 a0001c0001t0008g0032 a0001c0001t0009g0063 a0001c0001t0009g0082 a0001c0001t0011g0039 a0001c0001t0012g0043 a0001c0001t0018g0086 a0001c0001t0021g0070 a0001c0004t0001g0007 a0001c0006t0001g0037 a0001c0008t0001g0062 a0002c0003t0002g0005 a0002c0003t0002g0008 a0002c0003t0002g0010 a0002c0003t0002g0016 a0002c0003t0002g0020 a0002c0003t0002g0031 a0002c0003t0002g0066 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0002g0079 a0002c0003t0002g0080 a0002c0003t0002g0081 a0002c0003t0020g0075 a0004c0007t0001g0057	352	430	0.8186	c.151 others(4): Show c.1518A>G	p.Gly others(6): Show p.Gly506Gly	ACTR8	ENSG00000113812.14	transcript	ENST00000335754.8	protein_coding	11/13	1569/3579	1518/1875	506/624	chr3	TogoVar
ACTR8_chr3_53862066_53887152	53872486	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(349): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0002c0003 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0021 a0001c0004t0001 a0001c0006t0001 a0001c0008t0001 a0002c0003t0002 a0002c0003t0020 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(82): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0002g0030 a0001c0001t0002g0067 a0001c0001t0002g0095 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0012 a0001c0001t0003g0017 a0001c0001t0003g0021 a0001c0001t0003g0029 a0001c0001t0003g0065 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0004g0009 a0001c0001t0004g0064 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0005g0072 a0001c0001t0006g0025 a0001c0001t0007g0046 a0001c0001t0007g0054 a0001c0001t0008g0032 a0001c0001t0009g0063 a0001c0001t0009g0082 a0001c0001t0011g0039 a0001c0001t0012g0043 a0001c0001t0018g0086 a0001c0001t0021g0070 a0001c0004t0001g0007 a0001c0006t0001g0037 a0001c0008t0001g0062 a0002c0003t0002g0005 a0002c0003t0002g0008 a0002c0003t0002g0010 a0002c0003t0002g0016 a0002c0003t0002g0020 a0002c0003t0002g0031 a0002c0003t0002g0066 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0002g0079 a0002c0003t0002g0080 a0002c0003t0002g0081 a0002c0003t0020g0075 a0004c0007t0001g0057	352	430	0.8186	c.120 others(4): Show c.1200C>T	p.Ile others(6): Show p.Ile400Ile	ACTR8	ENSG00000113812.14	transcript	ENST00000335754.8	protein_coding	10/13	1251/3579	1200/1875	400/624	chr3	TogoVar
ACTR8_chr3_53862066_53887152	53881994	C C	G G	synonymous_variant synonymous_variant	LOW	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0037 a0001c0006t0001g0037	1	430	0.0023	c.108 others(3): Show c.108G>C	p.Pro others(5): Show p.Pro36Pro	ACTR8	ENSG00000113812.14	transcript	ENST00000335754.8	protein_coding	1/13	159/3579	108/1875	36/624	chr3	TogoVar
ACTR8_chr3_53862066_53887152	53882027	G G	T T	synonymous_variant synonymous_variant	LOW	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0062 a0001c0008t0001g0062	1	430	0.0023	c.75C others(2): Show c.75C>A	p.Gly others(5): Show p.Gly25Gly	ACTR8	ENSG00000113812.14	transcript	ENST00000335754.8	protein_coding	1/13	126/3579	75/1875	25/624	chr3	TogoVar
ACTR8_chr3_53862066_53887152	53882054	G G	A A	synonymous_variant synonymous_variant	LOW	HG02145.hp1 HG02258.hp2 HG02280.hp2 others(15): Show HG02145.hp1 HG02258.hp2 HG02280.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp2 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0001 a0001c0008t0001 a0001c0004t0001 a0001c0008t0001	a0001c0004t0001g0007 a0001c0008t0001g0062 a0001c0004t0001g0007 a0001c0008t0001g0062	18	430	0.0419	c.48C others(2): Show c.48C>T	p.Gly others(5): Show p.Gly16Gly	ACTR8	ENSG00000113812.14	transcript	ENST00000335754.8	protein_coding	1/13	99/3579	48/1875	16/624	chr3	TogoVar
ACTRT2_chr1_3016467_3027903	3021701	C C	T T	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(97): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG01070.hp1 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02486.hp1 HG02523.hp2 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03239.hp1 HG03710.hp1 HG03942.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19074.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0014 a0002c0002 a0001c0004 a0001c0014 a0002c0002	a0001c0004t0001 a0001c0004t0002 a0001c0014t0002 others(3): Show a0001c0004t0001 a0001c0004t0002 a0001c0014t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005	a0001c0004t0001g0000 a0001c0004t0002g0000 a0001c0014t0002g0000 others(3): Show a0001c0004t0001g0000 a0001c0004t0002g0000 a0001c0014t0002g0000 a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0002t0005g0000	100	364	0.2747	c.15C others(2): Show c.15C>T	p.His others(4): Show p.His5His	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	235/1437	15/1134	5/377	chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3022005	C C	T T	synonymous_variant synonymous_variant	LOW	HG01106.hp1 HG01255.hp1 HG02004.hp1 others(9): Show HG01106.hp1 HG01255.hp1 HG02004.hp1 HG02451.hp2 HG02572.hp1 HG02965.hp1 HG03098.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0007 a0005c0006 a0001c0007 a0005c0006	a0001c0007t0001 a0005c0006t0001 a0001c0007t0001 a0005c0006t0001	a0001c0007t0001g0000 a0005c0006t0001g0000 a0001c0007t0001g0000 a0005c0006t0001g0000	12	364	0.0330	c.319 others(3): Show c.319C>T	p.Leu others(6): Show p.Leu107Leu	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	539/1437	319/1134	107/377	chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3022016	G G	A A	synonymous_variant synonymous_variant	LOW	HG02451.hp1 HG02451.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0000 a0006c0008t0001g0000	1	364	0.0027	c.330 others(3): Show c.330G>A	p.Thr others(6): Show p.Thr110Thr	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	550/1437	330/1134	110/377	chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3022133	T T	G G	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(100): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG01070.hp1 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03239.hp1 HG03710.hp1 HG03942.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19074.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0004 a0001c0011 a0001c0012 others(3): Show a0001c0004 a0001c0011 a0001c0012 a0001c0014 a0002c0002 a0006c0008	a0001c0004t0001 a0001c0004t0002 a0001c0011t0001 others(6): Show a0001c0004t0001 a0001c0004t0002 a0001c0011t0001 a0001c0012t0002 a0001c0014t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0006c0008t0001	a0001c0004t0001g0000 a0001c0004t0002g0000 a0001c0011t0001g0000 others(6): Show a0001c0004t0001g0000 a0001c0004t0002g0000 a0001c0011t0001g0000 a0001c0012t0002g0000 a0001c0014t0002g0000 a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0002t0005g0000 a0006c0008t0001g0000	103	364	0.2830	c.447 others(3): Show c.447T>G	p.Ser others(6): Show p.Ser149Ser	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	667/1437	447/1134	149/377	chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3022172	G G	A A	synonymous_variant synonymous_variant	LOW	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0000 a0001c0014t0002g0000	1	364	0.0027	c.486 others(3): Show c.486G>A	p.Ala others(6): Show p.Ala162Ala	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	706/1437	486/1134	162/377	chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3022517	G G	A A	synonymous_variant synonymous_variant	LOW	NA18950.hp2 NA18950.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0000 a0003c0013t0001g0000	1	364	0.0027	c.831 others(3): Show c.831G>A	p.Ser others(6): Show p.Ser277Ser	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	1051/1437	831/1134	277/377	chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3022553	C C	T T	synonymous_variant synonymous_variant	LOW	HG02451.hp1 HG02451.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0000 a0006c0008t0001g0000	1	364	0.0027	c.867 others(3): Show c.867C>T	p.Thr others(6): Show p.Thr289Thr	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	1087/1437	867/1134	289/377	chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3022574	T T	C C	synonymous_variant synonymous_variant	LOW	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0000 a0001c0011t0001g0000	1	364	0.0027	c.888 others(3): Show c.888T>C	p.Phe others(6): Show p.Phe296Phe	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	1108/1437	888/1134	296/377	chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169767885	G G	A A	synonymous_variant synonymous_variant	LOW	HG02451.hp2 HG02622.hp1 HG02896.hp2 others(1): Show HG02451.hp2 HG02622.hp1 HG02896.hp2 HG02965.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0012 a0002c0004t0001g0032 a0002c0004t0001g0012 a0002c0004t0001g0032	4	416	0.0096	c.666 others(3): Show c.666C>T	p.Tyr others(6): Show p.Tyr222Tyr	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding	2/2	707/1671	666/1119	222/372	chr3	TogoVar
ACVR1B_chr12_51946699_52002078	51975278	G G	A A	synonymous_variant synonymous_variant	LOW	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0080 a0001c0007t0002g0080	1	322	0.0031	c.105 others(3): Show c.105G>A	p.Ala others(5): Show p.Ala35Ala	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	2/9	150/4531	105/1518	35/505	chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51975326	C C	T T	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp1 NA19043.hp2 HG02896.hp1 HG02897.hp1 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0029 a0001c0004t0013g0258 a0001c0004t0013g0029 a0001c0004t0013g0258	3	322	0.0093	c.153 others(3): Show c.153C>T	p.Ala others(5): Show p.Ala51Ala	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	2/9	198/4531	153/1518	51/505	chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51975407	C C	T T	synonymous_variant synonymous_variant	LOW	HG01884.hp1 HG02886.hp2 HG02976.hp1 HG01884.hp1 HG02886.hp2 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0013 a0001c0003t0002g0111 a0001c0003t0002g0013 a0001c0003t0002g0111	3	322	0.0093	c.234 others(3): Show c.234C>T	p.Ala others(5): Show p.Ala78Ala	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	2/9	279/4531	234/1518	78/505	chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51976397	G G	A A	synonymous_variant synonymous_variant	LOW	HG02895.hp2 HG02896.hp2 HG02895.hp2 HG02896.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0020 a0001c0005t0020	a0001c0005t0020g0278 a0001c0005t0020g0279 a0001c0005t0020g0278 a0001c0005t0020g0279	2	322	0.0062	c.402 others(3): Show c.402G>A	p.Pro others(6): Show p.Pro134Pro	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	3/9	447/4531	402/1518	134/505	chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51991912	C C	T T	synonymous_variant synonymous_variant	LOW	HG02451.hp2 HG02965.hp1 HG02451.hp2 HG02965.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0016 a0001c0006t0016	a0001c0006t0016g0273 a0001c0006t0016g0274 a0001c0006t0016g0273 a0001c0006t0016g0274	2	322	0.0062	c.131 others(4): Show c.1311C>T	p.Asp others(6): Show p.Asp437Asp	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	8/9	1356/4531	1311/1518	437/505	chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51994074	C C	T T	synonymous_variant synonymous_variant	LOW	HG02055.hp1 HG02630.hp1 HG02717.hp2 others(2): Show HG02055.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0019 a0001c0002t0002 a0001c0002t0019	a0001c0002t0002g0004 a0001c0002t0002g0127 a0001c0002t0002g0128 others(1): Show a0001c0002t0002g0004 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0019g0004	5	322	0.0155	c.148 others(4): Show c.1482C>T	p.Leu others(6): Show p.Leu494Leu	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	9/9	1527/4531	1482/1518	494/505	chr12	TogoVar
ACVR1C_chr2_157521767_157633864	157544593	T T	C C	synonymous_variant synonymous_variant	LOW	HG02809.hp2 HG02895.hp2 HG02976.hp2 others(2): Show HG02809.hp2 HG02895.hp2 HG02976.hp2 HG03041.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0008 a0002c0011 a0001c0007 a0002c0008 a0002c0011	a0001c0007t0012 a0001c0007t0025 a0002c0008t0002 others(2): Show a0001c0007t0012 a0001c0007t0025 a0002c0008t0002 a0002c0008t0027 a0002c0011t0002	a0001c0007t0012g0085 a0001c0007t0025g0080 a0002c0008t0002g0106 others(2): Show a0001c0007t0012g0085 a0001c0007t0025g0080 a0002c0008t0002g0106 a0002c0008t0027g0105 a0002c0011t0002g0011	5	214	0.0234	c.795 others(3): Show c.795A>G	p.Gln others(6): Show p.Gln265Gln	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	5/9	1015/8853	795/1482	265/493	chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157550265	G G	A A	synonymous_variant synonymous_variant	LOW	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0011 a0001c0009t0011	a0001c0009t0011g0159 a0001c0009t0011g0159	1	214	0.0047	c.672 others(3): Show c.672C>T	p.Phe others(6): Show p.Phe224Phe	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	4/9	892/8853	672/1482	224/493	chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157550337	T T	G G	synonymous_variant synonymous_variant	LOW	HG02145.hp2 HG02976.hp2 HG03041.hp1 others(1): Show HG02145.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0008 a0002c0013 a0001c0012 a0002c0008 a0002c0013	a0001c0012t0003 a0002c0008t0002 a0002c0008t0027 others(1): Show a0001c0012t0003 a0002c0008t0002 a0002c0008t0027 a0002c0013t0010	a0001c0012t0003g0051 a0002c0008t0002g0106 a0002c0008t0027g0105 others(1): Show a0001c0012t0003g0051 a0002c0008t0002g0106 a0002c0008t0027g0105 a0002c0013t0010g0052	4	214	0.0187	c.600 others(3): Show c.600A>C	p.Ile others(6): Show p.Ile200Ile	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	4/9	820/8853	600/1482	200/493	chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157556187	A A	G G	synonymous_variant synonymous_variant	LOW	HG02572.hp2 HG02976.hp1 HG03209.hp1 HG02572.hp2 HG02976.hp1 HG03209.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0009 a0002c0005t0007 a0002c0005t0009	a0002c0005t0007g0004 a0002c0005t0007g0005 a0002c0005t0009g0009 a0002c0005t0007g0004 a0002c0005t0007g0005 a0002c0005t0009g0009	3	214	0.0140	c.450 others(3): Show c.450T>C	p.Asn others(6): Show p.Asn150Asn	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/9	670/8853	450/1482	150/493	chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157587263	A A	G G	synonymous_variant synonymous_variant	LOW	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0126 a0001c0010t0004g0126	1	214	0.0047	c.228 others(3): Show c.228T>C	p.His others(5): Show p.His76His	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	2/9	448/8853	228/1482	76/493	chr2	TogoVar

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