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
ACTMAP_chr19_40735861_40755477	40742445	G G	T T	missense_variant missense_variant	MODERATE	HG03579.hp1 HG03579.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0035 a0006c0013t0035	a0006c0013t0035g0138 a0006c0013t0035g0138	1	424	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	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0021 a0004c0008t0021	a0004c0008t0021g0053 a0004c0008t0021g0053	1	424	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	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0005 a0007c0007t0005	a0007c0007t0005g0106 a0007c0007t0005g0106	1	424	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	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0132 a0003c0012t0002g0132	1	424	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	a0005c0010t0009g0074 a0005c0010t0009g0074	1	424	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 a0004 a0005 others(1): Show a0001 a0004 a0005 a0007	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0011 a0004c0008 a0005c0010 a0007c0007	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 a0004c0008t0021 a0005c0010t0009 a0007c0007t0005	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0019 others(112): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0002g0038 a0001c0001t0004g0004 a0001c0001t0004g0018 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0083 a0001c0001t0005g0005 a0001c0001t0005g0040 a0001c0001t0005g0103 a0001c0001t0005g0105 a0001c0001t0005g0107 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0116 a0001c0001t0006g0039 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0109 a0001c0001t0007g0009 a0001c0001t0007g0014 a0001c0001t0007g0033 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0072 a0001c0001t0008g0007 a0001c0001t0008g0044 a0001c0001t0008g0104 a0001c0001t0008g0114 a0001c0001t0008g0115 a0001c0001t0009g0006 a0001c0001t0011g0015 a0001c0001t0011g0077 a0001c0001t0011g0087 a0001c0001t0011g0101 a0001c0001t0013g0048 a0001c0001t0013g0141 a0001c0001t0013g0142 a0001c0001t0013g0143 a0001c0001t0014g0026 a0001c0001t0014g0145 a0001c0001t0015g0058 a0001c0001t0015g0059 a0001c0001t0015g0060 a0001c0001t0024g0088 a0001c0001t0024g0091 a0001c0001t0025g0036 a0001c0001t0026g0089 a0001c0001t0026g0099 a0001c0001t0027g0037 a0001c0001t0028g0108 a0001c0001t0028g0117 a0001c0001t0033g0102 a0001c0001t0034g0113 a0001c0001t0036g0112 a0001c0001t0037g0118 a0001c0001t0044g0144 a0001c0001t0045g0146 a0001c0003t0003g0003 a0001c0003t0003g0008 a0001c0003t0003g0027 a0001c0003t0003g0030 a0001c0003t0003g0031 a0001c0003t0003g0049 a0001c0003t0003g0050 a0001c0003t0003g0052 a0001c0003t0010g0013 a0001c0003t0010g0067 a0001c0003t0010g0068 a0001c0003t0010g0069 a0001c0003t0019g0028 a0001c0003t0020g0029 a0001c0003t0022g0065 a0001c0003t0022g0066 a0001c0003t0023g0032 a0001c0003t0030g0051 a0001c0004t0012g0017 a0001c0004t0012g0054 a0001c0004t0012g0055 a0001c0004t0016g0056 a0001c0004t0016g0063 a0001c0004t0017g0023 a0001c0004t0021g0057 a0001c0004t0031g0062 a0001c0006t0012g0061 a0001c0009t0042g0119 a0001c0011t0016g0064 a0004c0008t0021g0053 a0005c0010t0009g0074 a0007c0007t0005g0106	323	424	0.7618	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	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0211 a0003c0008t0003g0220 a0003c0008t0003g0211 a0003c0008t0003g0220	2	282	0.0071	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	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0002 a0002c0007t0001 a0002c0007t0002	a0002c0007t0001g0249 a0002c0007t0002g0115 a0002c0007t0001g0249 a0002c0007t0002g0115	2	282	0.0071	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	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0001 a0006c0015t0001	a0006c0015t0001g0276 a0006c0015t0001g0276	1	282	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	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0002 a0005c0014t0002	a0005c0014t0002g0118 a0005c0014t0002g0118	1	282	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	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0039 a0004c0006t0004g0112 a0004c0006t0004g0039 a0004c0006t0004g0112	2	282	0.0071	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	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	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	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	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	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	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	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	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	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	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	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	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	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	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	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	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	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	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
ACTN2_chr1_236681499_236769631	236717926	C C	G G	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	0.0029	c.195 others(3): Show c.195C>G	p.Asp others(5): Show p.Asp65Glu	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	370/4872	195/2685	65/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717927	T T	G G	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	0.0029	c.196 others(3): Show c.196T>G	p.Phe others(5): Show p.Phe66Val	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	371/4872	196/2685	66/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717930	A A	T T	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	0.0029	c.199 others(3): Show c.199A>T	p.Arg others(5): Show p.Arg67Trp	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	374/4872	199/2685	67/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717932	G G	C C	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	0.0029	c.201 others(3): Show c.201G>C	p.Arg others(5): Show p.Arg67Ser	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	376/4872	201/2685	67/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717935	T T	A A	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	0.0029	c.204 others(3): Show c.204T>A	p.Asn others(5): Show p.Asn68Lys	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	379/4872	204/2685	68/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717939	C C	A A	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	0.0029	c.208 others(3): Show c.208C>A	p.Leu others(5): Show p.Leu70Ile	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	383/4872	208/2685	70/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717940	T T	A A	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	0.0029	c.209 others(3): Show c.209T>A	p.Leu others(5): Show p.Leu70His	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	384/4872	209/2685	70/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717944	G G	C C	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	0.0029	c.213 others(3): Show c.213G>C	p.Lys others(5): Show p.Lys71Asn	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	388/4872	213/2685	71/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717946	T T	A A	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	0.0029	c.215 others(3): Show c.215T>A	p.Leu others(5): Show p.Leu72His	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	390/4872	215/2685	72/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717949	T T	C C	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	0.0029	c.218 others(3): Show c.218T>C	p.Met others(5): Show p.Met73Thr	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	393/4872	218/2685	73/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717950	G G	A A	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	0.0029	c.219 others(3): Show c.219G>A	p.Met others(5): Show p.Met73Ile	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	394/4872	219/2685	73/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717952	T T	G G	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	0.0029	c.221 others(3): Show c.221T>G	p.Leu others(5): Show p.Leu74Arg	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	396/4872	221/2685	74/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717960	G G	C C	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	0.0029	c.229 others(3): Show c.229G>C	p.Glu others(5): Show p.Glu77Gln	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	404/4872	229/2685	77/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717964	T T	G G	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	0.0029	c.233 others(3): Show c.233T>G	p.Val others(5): Show p.Val78Gly	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	408/4872	233/2685	78/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236744668	C C	T T	missense_variant missense_variant	MODERATE	HG02886.hp2 NA18906.hp2 HG02886.hp2 NA18906.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0008 a0004c0012t0008	a0004c0012t0008g0093 a0004c0012t0008g0099 a0004c0012t0008g0093 a0004c0012t0008g0099	2	342	0.0058	c.129 others(4): Show c.1298C>T	p.Ser others(6): Show p.Ser433Leu	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	12/21	1473/4872	1298/2685	433/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236744682	C C	T T	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0024 a0005c0017t0024	a0005c0017t0024g0100 a0005c0017t0024g0100	1	342	0.0029	c.131 others(4): Show c.1312C>T	p.Arg others(6): Show p.Arg438Trp	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	12/21	1487/4872	1312/2685	438/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236747683	G G	A A	missense_variant missense_variant	MODERATE	HG02015.hp1 HG02080.hp2 HG02083.hp2 others(13): Show HG02015.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 NA18939.hp2 NA18940.hp2 NA18953.hp2 NA18979.hp2 NA18983.hp1 NA18993.hp2 NA19000.hp1 NA19010.hp1 NA19063.hp1 NA19072.hp2 NA19082.hp2	a0002 a0002	a0002c0005 a0002c0008 a0002c0019 others(1): Show a0002c0005 a0002c0008 a0002c0019 a0002c0020	a0002c0005t0004 a0002c0008t0004 a0002c0019t0004 others(1): Show a0002c0005t0004 a0002c0008t0004 a0002c0019t0004 a0002c0020t0002	a0002c0005t0004g0009 a0002c0005t0004g0010 a0002c0005t0004g0036 others(13): Show a0002c0005t0004g0009 a0002c0005t0004g0010 a0002c0005t0004g0036 a0002c0005t0004g0256 a0002c0005t0004g0259 a0002c0005t0004g0299 a0002c0005t0004g0300 a0002c0005t0004g0308 a0002c0005t0004g0310 a0002c0008t0004g0026 a0002c0008t0004g0028 a0002c0008t0004g0166 a0002c0008t0004g0280 a0002c0008t0004g0303 a0002c0019t0004g0003 a0002c0020t0002g0008	16	342	0.0468	c.142 others(4): Show c.1423G>A	p.Asp others(6): Show p.Asp475Asn	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	13/21	1598/4872	1423/2685	475/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236747712	G G	C C	missense_variant missense_variant	MODERATE	HG04184.hp2 HG04184.hp2	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0001 a0007c0022t0001	a0007c0022t0001g0201 a0007c0022t0001g0201	1	342	0.0029	c.145 others(4): Show c.1452G>C	p.Gln others(6): Show p.Gln484His	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	13/21	1627/4872	1452/2685	484/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236751623	A A	G G	missense_variant missense_variant	MODERATE	HG01192.hp1 HG02257.hp1 HG01192.hp1 HG02257.hp1	a0003 a0003	a0003c0026 a0003c0032 a0003c0026 a0003c0032	a0003c0026t0005 a0003c0032t0017 a0003c0026t0005 a0003c0032t0017	a0003c0026t0005g0077 a0003c0032t0017g0095 a0003c0026t0005g0077 a0003c0032t0017g0095	2	342	0.0058	c.181 others(4): Show c.1810A>G	p.Met others(6): Show p.Met604Val	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	15/21	1985/4872	1810/2685	604/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236751636	G G	A A	missense_variant missense_variant	MODERATE	HG03654.hp1 HG03654.hp1	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0001 a0006c0023t0001	a0006c0023t0001g0339 a0006c0023t0001g0339	1	342	0.0029	c.182 others(4): Show c.1823G>A	p.Arg others(6): Show p.Arg608Gln	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	15/21	1998/4872	1823/2685	608/894	chr1	TogoVar
ACTN3_chr11_66541903_66568334	66547043	G G	C C	missense_variant missense_variant	MODERATE	NA18957.hp1 NA18959.hp2 NA18971.hp2 others(3): Show NA18957.hp1 NA18959.hp2 NA18971.hp2 NA19000.hp2 NA19010.hp1 NA19058.hp1	a0005 a0020 a0021 a0005 a0020 a0021	a0005c0006 a0020c0015 a0021c0014 a0005c0006 a0020c0015 a0021c0014	a0005c0006t0002 a0020c0015t0002 a0021c0014t0002 a0005c0006t0002 a0020c0015t0002 a0021c0014t0002	a0005c0006t0002g0032 a0005c0006t0002g0062 a0005c0006t0002g0074 others(2): Show a0005c0006t0002g0032 a0005c0006t0002g0062 a0005c0006t0002g0074 a0020c0015t0002g0061 a0021c0014t0002g0070	6	398	0.0151	c.106 others(3): Show c.106G>C	p.Asp others(5): Show p.Asp36His	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	1/21	141/2882	106/2706	36/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66551267	T T	A A	missense_variant missense_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0001 a0002c0030t0001	a0002c0030t0001g0156 a0002c0030t0001g0156	1	398	0.0025	c.176 others(3): Show c.176T>A	p.Leu others(5): Show p.Leu59Gln	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	2/21	211/2882	176/2706	59/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66551269	C C	A A	missense_variant missense_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0001 a0002c0030t0001	a0002c0030t0001g0156 a0002c0030t0001g0156	1	398	0.0025	c.178 others(3): Show c.178C>A	p.Arg others(5): Show p.Arg60Ser	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	2/21	213/2882	178/2706	60/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66551270	G G	T T	missense_variant missense_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0001 a0002c0030t0001	a0002c0030t0001g0156 a0002c0030t0001g0156	1	398	0.0025	c.179 others(3): Show c.179G>T	p.Arg others(5): Show p.Arg60Leu	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	2/21	214/2882	179/2706	60/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66551272	A A	G G	missense_variant missense_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0001 a0002c0030t0001	a0002c0030t0001g0156 a0002c0030t0001g0156	1	398	0.0025	c.181 others(3): Show c.181A>G	p.Lys others(5): Show p.Lys61Glu	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	2/21	216/2882	181/2706	61/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66551273	A A	C C	missense_variant missense_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0001 a0002c0030t0001	a0002c0030t0001g0156 a0002c0030t0001g0156	1	398	0.0025	c.182 others(3): Show c.182A>C	p.Lys others(5): Show p.Lys61Thr	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	2/21	217/2882	182/2706	61/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66551275	G G	T T	missense_variant missense_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0001 a0002c0030t0001	a0002c0030t0001g0156 a0002c0030t0001g0156	1	398	0.0025	c.184 others(3): Show c.184G>T	p.Ala others(5): Show p.Ala62Ser	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	2/21	219/2882	184/2706	62/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66551276	C C	G G	missense_variant missense_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0001 a0002c0030t0001	a0002c0030t0001g0156 a0002c0030t0001g0156	1	398	0.0025	c.185 others(3): Show c.185C>G	p.Ala others(5): Show p.Ala62Gly	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	2/21	220/2882	185/2706	62/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66551278	G G	T T	missense_variant missense_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0001 a0002c0030t0001	a0002c0030t0001g0156 a0002c0030t0001g0156	1	398	0.0025	c.187 others(3): Show c.187G>T	p.Gly others(5): Show p.Gly63Cys	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	2/21	222/2882	187/2706	63/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66554559	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0003 a0008c0013t0001g0007 a0008c0013t0001g0003 a0008c0013t0001g0007	2	398	0.0050	c.493 others(3): Show c.493C>T	p.Leu others(6): Show p.Leu165Phe	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	5/21	528/2882	493/2706	165/901	chr11	TogoVar

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