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
ABLIM1_chr10_114426112_114663275	114447928	T T	C C	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02717.hp1 HG03130.hp1 others(2): Show HG02615.hp1 HG02717.hp1 HG03130.hp1 NA18522.hp1 NA19043.hp1	a0002 a0002	a0002c0005 a0002c0009 a0002c0005 a0002c0009	a0002c0005t0045 a0002c0005t0091 a0002c0005t0092 others(2): Show a0002c0005t0045 a0002c0005t0091 a0002c0005t0092 a0002c0009t0063 a0002c0009t0090	a0002c0005t0045g0060 a0002c0005t0091g0111 a0002c0005t0092g0156 others(2): Show a0002c0005t0045g0060 a0002c0005t0091g0111 a0002c0005t0092g0156 a0002c0009t0063g0144 a0002c0009t0090g0010	5	254	0.0197	c.168 others(4): Show c.1687A>G	p.Lys others(6): Show p.Lys563Glu	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	15/23	1762/7560	1687/2337	563/778	chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114447937	C C	T T	missense_variant missense_variant	MODERATE	HG01123.hp1 HG01123.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0109 a0007c0016t0109	a0007c0016t0109g0127 a0007c0016t0109g0127	1	254	0.0039	c.167 others(4): Show c.1678G>A	p.Glu others(6): Show p.Glu560Lys	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	15/23	1753/7560	1678/2337	560/778	chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114465754	C C	T T	missense_variant missense_variant	MODERATE	NA18966.hp1 NA18966.hp1	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0044 a0010c0020t0044	a0010c0020t0044g0039 a0010c0020t0044g0039	1	254	0.0039	c.138 others(4): Show c.1385G>A	p.Ser others(6): Show p.Ser462Asn	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	12/23	1460/7560	1385/2337	462/778	chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114571320	G G	A A	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02280.hp2	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0021 a0008c0018t0021	a0008c0018t0021g0021 a0008c0018t0021g0021	1	254	0.0039	c.650 others(3): Show c.650C>T	p.Pro others(6): Show p.Pro217Leu	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	4/23	725/7560	650/2337	217/778	chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114575501	C C	T T	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01109.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0084 a0006c0014t0084	a0006c0014t0084g0148 a0006c0014t0084g0148	1	254	0.0039	c.478 others(3): Show c.478G>A	p.Gly others(6): Show p.Gly160Ser	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	3/23	553/7560	478/2337	160/778	chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114657969	C C	T T	missense_variant missense_variant	MODERATE	HG04199.hp1 HG04199.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0114 a0009c0013t0114	a0009c0013t0114g0002 a0009c0013t0114g0002	1	254	0.0039	c.232 others(3): Show c.232G>A	p.Val others(5): Show p.Val78Ile	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	1/23	307/7560	232/2337	78/778	chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114658041	G G	A A	missense_variant missense_variant	MODERATE	HG02895.hp1 HG02897.hp1 NA20129.hp2 HG02895.hp1 HG02897.hp1 NA20129.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0042 a0004c0006t0078 a0004c0006t0042 a0004c0006t0078	a0004c0006t0042g0251 a0004c0006t0042g0252 a0004c0006t0078g0253 a0004c0006t0042g0251 a0004c0006t0042g0252 a0004c0006t0078g0253	3	254	0.0118	c.160 others(3): Show c.160C>T	p.Arg others(5): Show p.Arg54Cys	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	1/23	235/7560	160/2337	54/778	chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114658077	G G	A A	missense_variant missense_variant	MODERATE	HG03017.hp2 HG03491.hp2 HG03017.hp2 HG03491.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0009 a0005c0011t0009	a0005c0011t0009g0254 a0005c0011t0009g0255 a0005c0011t0009g0254 a0005c0011t0009g0255	2	254	0.0079	c.124 others(3): Show c.124C>T	p.Arg others(5): Show p.Arg42Trp	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	1/23	199/7560	124/2337	42/778	chr10	TogoVar
ABLIM2_chr4_7960327_8163813	7967088	C C	T T	missense_variant missense_variant	MODERATE	HG02071.hp2 HG02071.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0171 a0003c0009t0002g0171	1	320	0.0031	c.184 others(4): Show c.1840G>A	p.Glu others(6): Show p.Glu614Lys	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	21/21	1964/3725	1840/1938	614/645	chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8080745	T T	C C	missense_variant missense_variant	MODERATE	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0070 a0002c0005t0002g0071 a0002c0005t0002g0070 a0002c0005t0002g0071	2	320	0.0063	c.512 others(3): Show c.512A>G	p.Lys others(6): Show p.Lys171Arg	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	5/21	636/3725	512/1938	171/645	chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8088205	C C	T T	missense_variant missense_variant	MODERATE	NA20752.hp2 NA20752.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0299 a0005c0007t0001g0299	1	320	0.0031	c.418 others(3): Show c.418G>A	p.Val others(6): Show p.Val140Met	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	4/21	542/3725	418/1938	140/645	chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8097256	C C	T T	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0006 a0004c0006t0006	a0004c0006t0006g0209 a0004c0006t0006g0209	1	320	0.0031	c.181 others(3): Show c.181G>A	p.Gly others(5): Show p.Gly61Ser	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	3/21	305/3725	181/1938	61/645	chr4	TogoVar
ABLIM3_chr5_149136493_149265542	149200354	G G	A A	missense_variant missense_variant	MODERATE	HG02647.hp1 HG02818.hp1 HG03041.hp2 others(3): Show HG02647.hp1 HG02818.hp1 HG03041.hp2 HG03471.hp1 HG03471.hp2 NA19240.hp2	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0004 a0002c0005t0008 a0002c0005t0013 a0002c0004t0004 a0002c0005t0008 a0002c0005t0013	a0002c0004t0004g0013 a0002c0004t0004g0089 a0002c0004t0004g0090 others(3): Show a0002c0004t0004g0013 a0002c0004t0004g0089 a0002c0004t0004g0090 a0002c0005t0008g0115 a0002c0005t0008g0116 a0002c0005t0013g0019	6	256	0.0234	c.374 others(3): Show c.374G>A	p.Gly others(6): Show p.Gly125Asp	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	5/24	623/4439	374/2052	125/683	chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149233236	G G	A A	missense_variant missense_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0134 a0005c0011t0001g0134	1	256	0.0039	c.824 others(3): Show c.824G>A	p.Arg others(6): Show p.Arg275Gln	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	10/24	1073/4439	824/2052	275/683	chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149239272	T T	A A	missense_variant missense_variant	MODERATE	HG01175.hp2 HG01192.hp2 HG01175.hp2 HG01192.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0146 a0003c0007t0001g0233 a0003c0007t0001g0146 a0003c0007t0001g0233	2	256	0.0078	c.106 others(4): Show c.1069T>A	p.Ser others(6): Show p.Ser357Thr	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	12/24	1318/4439	1069/2052	357/683	chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149239783	C C	T T	missense_variant missense_variant	MODERATE	HG02897.hp2 HG02897.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0247 a0004c0013t0001g0247	1	256	0.0039	c.109 others(4): Show c.1099C>T	p.Arg others(6): Show p.Arg367Trp	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	13/24	1348/4439	1099/2052	367/683	chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149242533	G G	C C	missense_variant missense_variant	MODERATE	NA19054.hp1 NA19054.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0101 a0006c0012t0001g0101	1	256	0.0039	c.134 others(4): Show c.1346G>C	p.Arg others(6): Show p.Arg449Pro	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	15/24	1595/4439	1346/2052	449/683	chr5	TogoVar
ABRAXAS1_chr4_83454517_83490100	83462582	C C	T T	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp2 HG01192.hp1 others(2): Show HG01069.hp1 HG01071.hp2 HG01192.hp1 HG01515.hp2 NA20752.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0021 a0003c0004t0002g0108 a0003c0004t0002g0118 a0003c0004t0002g0021 a0003c0004t0002g0108 a0003c0004t0002g0118	5	354	0.0141	c.111 others(4): Show c.1117G>A	p.Asp others(6): Show p.Asp373Asn	ABRAXAS1	ENSG00000163322.14	transcript	ENST00000321945.12	protein_coding	9/9	1145/4210	1117/1230	373/409	chr4	TogoVar
ABRAXAS1_chr4_83454517_83490100	83462657	C C	T T	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00408.hp2 HG00438.hp1 others(151): Show HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02300.hp1 HG02523.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA20129.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0002 a0002c0003 a0004c0006 others(1): Show a0002c0002 a0002c0003 a0004c0006 a0006c0008	a0002c0002t0001 a0002c0002t0008 a0002c0002t0010 others(10): Show a0002c0002t0001 a0002c0002t0008 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0016 a0002c0002t0017 a0002c0002t0018 a0002c0002t0019 a0002c0002t0020 a0002c0003t0001 a0004c0006t0001 a0006c0008t0012	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0008 others(92): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0018 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0119 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0182 a0002c0002t0001g0186 a0002c0002t0008g0041 a0002c0002t0008g0138 a0002c0002t0008g0153 a0002c0002t0010g0027 a0002c0002t0011g0056 a0002c0002t0011g0081 a0002c0002t0012g0159 a0002c0002t0016g0070 a0002c0002t0017g0079 a0002c0002t0018g0150 a0002c0002t0019g0126 a0002c0002t0020g0144 a0002c0003t0001g0017 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0004c0006t0001g0151 a0006c0008t0012g0141	154	354	0.4350	c.104 others(4): Show c.1042G>A	p.Ala others(6): Show p.Ala348Thr	ABRAXAS1	ENSG00000163322.14	transcript	ENST00000321945.12	protein_coding	9/9	1070/4210	1042/1230	348/409	chr4	TogoVar
ABRAXAS1_chr4_83454517_83490100	83462802	C C	T T	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0026 a0005c0007t0026	a0005c0007t0026g0120 a0005c0007t0026g0120	1	354	0.0028	c.897 others(3): Show c.897G>A	p.Met others(6): Show p.Met299Ile	ABRAXAS1	ENSG00000163322.14	transcript	ENST00000321945.12	protein_coding	9/9	925/4210	897/1230	299/409	chr4	TogoVar
ABRAXAS1_chr4_83454517_83490100	83463514	C C	G G	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00558.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0151 a0004c0006t0001g0151	1	354	0.0028	c.776 others(3): Show c.776G>C	p.Gly others(6): Show p.Gly259Ala	ABRAXAS1	ENSG00000163322.14	transcript	ENST00000321945.12	protein_coding	8/9	804/4210	776/1230	259/409	chr4	TogoVar
ABRAXAS1_chr4_83454517_83490100	83470257	G G	A A	missense_variant missense_variant	MODERATE	HG03834.hp1 HG03834.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0012 a0006c0008t0012	a0006c0008t0012g0141 a0006c0008t0012g0141	1	354	0.0028	c.422 others(3): Show c.422C>T	p.Thr others(6): Show p.Thr141Ile	ABRAXAS1	ENSG00000163322.14	transcript	ENST00000321945.12	protein_coding	5/9	450/4210	422/1230	141/409	chr4	TogoVar
ABRA_chr8_106754483_106775244	106761050	G G	A A	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00323.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0002 a0005c0011t0002	a0005c0011t0002g0071 a0005c0011t0002g0071	1	438	0.0023	c.113 others(4): Show c.1133C>T	p.Thr others(6): Show p.Thr378Met	ABRA	ENSG00000174429.4	transcript	ENST00000311955.4	protein_coding	2/2	1187/2754	1133/1146	378/381	chr8	TogoVar
ABRA_chr8_106754483_106775244	106761395	T T	C C	missense_variant missense_variant	MODERATE	NA19006.hp2 NA19055.hp1 NA19006.hp2 NA19055.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0033 a0004c0007t0001g0033	2	438	0.0046	c.788 others(3): Show c.788A>G	p.Asn others(6): Show p.Asn263Ser	ABRA	ENSG00000174429.4	transcript	ENST00000311955.4	protein_coding	2/2	842/2754	788/1146	263/381	chr8	TogoVar
ABRA_chr8_106754483_106775244	106761447	T T	C C	missense_variant missense_variant	MODERATE	HG00323.hp2 HG01069.hp2 HG01192.hp2 others(6): Show HG00323.hp2 HG01069.hp2 HG01192.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG03491.hp2 HG03492.hp1 HG03942.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0007 a0002c0005t0001g0007	9	438	0.0205	c.736 others(3): Show c.736A>G	p.Lys others(6): Show p.Lys246Glu	ABRA	ENSG00000174429.4	transcript	ENST00000311955.4	protein_coding	2/2	790/2754	736/1146	246/381	chr8	TogoVar
ABRA_chr8_106754483_106775244	106769578	C C	T T	missense_variant missense_variant	MODERATE	NA18941.hp2 NA18941.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0040 a0006c0009t0001g0040	1	438	0.0023	c.613 others(3): Show c.613G>A	p.Glu others(6): Show p.Glu205Lys	ABRA	ENSG00000174429.4	transcript	ENST00000311955.4	protein_coding	1/2	667/2754	613/1146	205/381	chr8	TogoVar
ABRA_chr8_106754483_106775244	106769862	G G	A A	missense_variant missense_variant	MODERATE	HG02886.hp2 HG03098.hp1 HG02886.hp2 HG03098.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0032 a0003c0006t0002g0032	2	438	0.0046	c.329 others(3): Show c.329C>T	p.Ser others(6): Show p.Ser110Phe	ABRA	ENSG00000174429.4	transcript	ENST00000311955.4	protein_coding	1/2	383/2754	329/1146	110/381	chr8	TogoVar
ABR_chr17_998519_1184981	1006086	G G	T T	missense_variant missense_variant	MODERATE	HG02132.hp1 HG02132.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0020 a0003c0008t0020	a0003c0008t0020g0131 a0003c0008t0020g0131	1	334	0.0030	c.257 others(4): Show c.2574C>A	p.Asp others(6): Show p.Asp858Glu	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	23/23	2828/5395	2574/2580	858/859	chr17	TogoVar
ABR_chr17_998519_1184981	1012728	G G	C C	missense_variant missense_variant	MODERATE	NA18943.hp1 NA18943.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0009 a0004c0011t0009	a0004c0011t0009g0028 a0004c0011t0009g0028	1	336	0.0030	c.192 others(4): Show c.1921C>G	p.Gln others(6): Show p.Gln641Glu	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	18/23	2175/5395	1921/2580	641/859	chr17	TogoVar
ABR_chr17_998519_1184981	1056046	T T	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG01074.hp2 HG00639.hp1 HG01074.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0187 a0002c0005t0001g0198 a0002c0005t0001g0187 a0002c0005t0001g0198	2	336	0.0060	c.155 others(4): Show c.1550A>G	p.Lys others(6): Show p.Lys517Arg	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/23	1804/5395	1550/2580	517/859	chr17	TogoVar
ABR_chr17_998519_1184981	1125211	G G	A A	missense_variant missense_variant	MODERATE	NA19080.hp2 NA19080.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0061 a0005c0015t0061	a0005c0015t0061g0213 a0005c0015t0061g0213	1	336	0.0030	c.218 others(3): Show c.218C>T	p.Pro others(5): Show p.Pro73Leu	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/23	472/5395	218/2580	73/859	chr17	TogoVar
ABT1_chr6_26591953_26605739	26597915	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19068.hp1 NA19068.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0018 a0003c0007t0018	a0003c0007t0018g0005 a0003c0007t0018g0005	1	408	0.0025	c.243 others(3): Show c.243C>G	p.Asp others(5): Show p.Asp81Glu	ABT1	ENSG00000146109.5	transcript	ENST00000274849.3	protein_coding	2/3	273/2943	243/819	81/272	chr6	TogoVar
ABT1_chr6_26591953_26605739	26597949	G G	A A	missense_variant missense_variant	MODERATE	NA19068.hp1 NA19068.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0018 a0003c0007t0018	a0003c0007t0018g0005 a0003c0007t0018g0005	1	408	0.0025	c.277 others(3): Show c.277G>A	p.Ala others(5): Show p.Ala93Thr	ABT1	ENSG00000146109.5	transcript	ENST00000274849.3	protein_coding	2/3	307/2943	277/819	93/272	chr6	TogoVar
ABT1_chr6_26591953_26605739	26597955	G G	A A	missense_variant missense_variant	MODERATE	NA19068.hp1 NA19068.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0018 a0003c0007t0018	a0003c0007t0018g0005 a0003c0007t0018g0005	1	408	0.0025	c.283 others(3): Show c.283G>A	p.Gly others(5): Show p.Gly95Arg	ABT1	ENSG00000146109.5	transcript	ENST00000274849.3	protein_coding	2/3	313/2943	283/819	95/272	chr6	TogoVar
ABT1_chr6_26591953_26605739	26597995	G G	A A	missense_variant missense_variant	MODERATE	NA19076.hp2 NA19076.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0001 a0005c0008t0001g0001	1	408	0.0025	c.323 others(3): Show c.323G>A	p.Gly others(6): Show p.Gly108Glu	ABT1	ENSG00000146109.5	transcript	ENST00000274849.3	protein_coding	2/3	353/2943	323/819	108/272	chr6	TogoVar
ABT1_chr6_26591953_26605739	26598037	C C	T T	missense_variant missense_variant	MODERATE	NA19091.hp1 NA19091.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0001 a0006c0010t0001g0001	1	408	0.0025	c.365 others(3): Show c.365C>T	p.Ala others(6): Show p.Ala122Val	ABT1	ENSG00000146109.5	transcript	ENST00000274849.3	protein_coding	2/3	395/2943	365/819	122/272	chr6	TogoVar
ABT1_chr6_26591953_26605739	26598344	C C	T T	missense_variant missense_variant	MODERATE	HG00741.hp2 HG01243.hp2 HG03471.hp1 others(1): Show HG00741.hp2 HG01243.hp2 HG03471.hp1 HG03540.hp1	a0002 a0002	a0002c0006 a0002c0011 a0002c0006 a0002c0011	a0002c0006t0002 a0002c0011t0002 a0002c0006t0002 a0002c0011t0002	a0002c0006t0002g0001 a0002c0011t0002g0001 a0002c0006t0002g0001 a0002c0011t0002g0001	4	408	0.0098	c.518 others(3): Show c.518C>T	p.Ala others(6): Show p.Ala173Val	ABT1	ENSG00000146109.5	transcript	ENST00000274849.3	protein_coding	3/3	548/2943	518/819	173/272	chr6	TogoVar
ABT1_chr6_26591953_26605739	26598490	G G	A A	missense_variant missense_variant	MODERATE	NA19076.hp1 NA19076.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0001 a0004c0009t0001g0001	1	408	0.0025	c.664 others(3): Show c.664G>A	p.Ala others(6): Show p.Ala222Thr	ABT1	ENSG00000146109.5	transcript	ENST00000274849.3	protein_coding	3/3	694/2943	664/819	222/272	chr6	TogoVar
ABT1_chr6_26591953_26605739	26598628	C C	T T	missense_variant missense_variant	MODERATE	NA19076.hp2 NA19076.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0001 a0005c0008t0001g0001	1	408	0.0025	c.802 others(3): Show c.802C>T	p.Leu others(6): Show p.Leu268Phe	ABT1	ENSG00000146109.5	transcript	ENST00000274849.3	protein_coding	3/3	832/2943	802/819	268/272	chr6	TogoVar
ABT1_chr6_26591953_26605739	26598629	T T	C C	missense_variant missense_variant	MODERATE	NA19076.hp2 NA19076.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0001 a0005c0008t0001g0001	1	408	0.0025	c.803 others(3): Show c.803T>C	p.Leu others(6): Show p.Leu268Pro	ABT1	ENSG00000146109.5	transcript	ENST00000274849.3	protein_coding	3/3	833/2943	803/819	268/272	chr6	TogoVar
ABTB1_chr3_127667952_127685926	127676042	G G	A A	missense_variant missense_variant	MODERATE	HG02015.hp1 HG02015.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0001 a0004c0010t0001g0001	1	438	0.0023	c.248 others(3): Show c.248G>A	p.Arg others(5): Show p.Arg83Gln	ABTB1	ENSG00000114626.18	transcript	ENST00000232744.13	protein_coding	4/12	322/1962	248/1437	83/478	chr3	TogoVar
ABTB1_chr3_127667952_127685926	127677532	G G	A A	missense_variant missense_variant	MODERATE	HG03927.hp2 HG04184.hp1 HG03927.hp2 HG04184.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0006 a0003c0008t0001 a0003c0008t0006	a0003c0008t0001g0002 a0003c0008t0006g0002 a0003c0008t0001g0002 a0003c0008t0006g0002	2	438	0.0046	c.830 others(3): Show c.830G>A	p.Arg others(6): Show p.Arg277Gln	ABTB1	ENSG00000114626.18	transcript	ENST00000232744.13	protein_coding	9/12	904/1962	830/1437	277/478	chr3	TogoVar
ABTB1_chr3_127667952_127685926	127677755	C C	T T	missense_variant missense_variant	MODERATE	NA20805.hp1 NA20805.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0001 a0005c0013t0001g0001	1	438	0.0023	c.941 others(3): Show c.941C>T	p.Ser others(6): Show p.Ser314Leu	ABTB1	ENSG00000114626.18	transcript	ENST00000232744.13	protein_coding	10/12	1015/1962	941/1437	314/478	chr3	TogoVar
ABTB1_chr3_127667952_127685926	127680171	A A	G G	missense_variant missense_variant	MODERATE	NA18944.hp2 NA18961.hp1 NA18965.hp1 others(2): Show NA18944.hp2 NA18961.hp1 NA18965.hp1 NA18980.hp2 NA19002.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0027 a0002c0004t0001g0035 a0002c0004t0001g0036 others(1): Show a0002c0004t0001g0027 a0002c0004t0001g0035 a0002c0004t0001g0036 a0002c0004t0001g0037	5	438	0.0114	c.121 others(4): Show c.1216A>G	p.Lys others(6): Show p.Lys406Glu	ABTB1	ENSG00000114626.18	transcript	ENST00000232744.13	protein_coding	11/12	1290/1962	1216/1437	406/478	chr3	TogoVar
ABTB2_chr11_34145987_34363010	34152485	C C	T T	missense_variant missense_variant	MODERATE	HG02486.hp2 HG02486.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0002 a0005c0018t0002	a0005c0018t0002g0191 a0005c0018t0002g0191	1	244	0.0041	c.298 others(4): Show c.2980G>A	p.Gly others(6): Show p.Gly994Ser	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	17/17	3407/4905	2980/3078	994/1025	chr11	TogoVar
ABTB2_chr11_34145987_34363010	34154715	T T	C C	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02486.hp1 HG02615.hp1 others(10): Show HG02145.hp1 HG02486.hp1 HG02615.hp1 HG02723.hp2 HG02818.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03540.hp1 NA19043.hp2 NA21309.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0003c0008 a0004c0006 others(1): Show a0003c0003 a0003c0008 a0004c0006 a0004c0014	a0003c0003t0001 a0003c0003t0003 a0003c0003t0006 others(6): Show a0003c0003t0001 a0003c0003t0003 a0003c0003t0006 a0003c0003t0008 a0003c0003t0010 a0003c0008t0014 a0004c0006t0002 a0004c0006t0012 a0004c0014t0002	a0003c0003t0001g0096 a0003c0003t0001g0140 a0003c0003t0003g0179 others(10): Show a0003c0003t0001g0096 a0003c0003t0001g0140 a0003c0003t0003g0179 a0003c0003t0006g0093 a0003c0003t0008g0148 a0003c0003t0008g0154 a0003c0003t0010g0161 a0003c0003t0010g0165 a0003c0008t0014g0019 a0004c0006t0002g0222 a0004c0006t0012g0237 a0004c0006t0012g0244 a0004c0014t0002g0241	13	244	0.0533	c.275 others(4): Show c.2752A>G	p.Thr others(6): Show p.Thr918Ala	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	15/17	3179/4905	2752/3078	918/1025	chr11	TogoVar
ABTB2_chr11_34145987_34363010	34159303	A A	G G	missense_variant missense_variant	MODERATE	NA19056.hp1 NA19056.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0063 a0006c0011t0001g0063	1	244	0.0041	c.269 others(4): Show c.2690T>C	p.Ile others(6): Show p.Ile897Thr	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	14/17	3117/4905	2690/3078	897/1025	chr11	TogoVar
ABTB2_chr11_34145987_34363010	34356834	G G	C C	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00438.hp2 HG00609.hp2 others(55): Show HG00438.hp1 HG00438.hp2 HG00609.hp2 HG01255.hp2 HG01358.hp1 HG01433.hp2 HG02080.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03195.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18952.hp2 NA18962.hp2 NA18966.hp2 NA18970.hp1 NA18972.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19010.hp1 NA19043.hp2 NA19055.hp2 NA19060.hp1 NA19067.hp1 NA19079.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0002 a0002c0013 a0002c0015 others(6): Show a0002c0002 a0002c0013 a0002c0015 a0002c0016 a0002c0017 a0002c0019 a0004c0006 a0004c0014 a0005c0018	a0002c0002t0002 a0002c0002t0011 a0002c0002t0013 others(11): Show a0002c0002t0002 a0002c0002t0011 a0002c0002t0013 a0002c0002t0025 a0002c0002t0026 a0002c0013t0002 a0002c0015t0024 a0002c0016t0002 a0002c0017t0028 a0002c0019t0027 a0004c0006t0002 a0004c0006t0012 a0004c0014t0002 a0005c0018t0002	a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0193 others(55): Show a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0227 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0238 a0002c0002t0002g0242 a0002c0002t0011g0192 a0002c0002t0011g0240 a0002c0002t0013g0245 a0002c0002t0013g0246 a0002c0002t0025g0206 a0002c0002t0026g0243 a0002c0013t0002g0228 a0002c0015t0024g0239 a0002c0016t0002g0197 a0002c0017t0028g0226 a0002c0019t0027g0221 a0004c0006t0002g0222 a0004c0006t0012g0237 a0004c0006t0012g0244 a0004c0014t0002g0241 a0005c0018t0002g0191	58	244	0.2377	c.750 others(3): Show c.750C>G	p.His others(6): Show p.His250Gln	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/17	1177/4905	750/3078	250/1025	chr11	TogoVar
ABTB3_chr12_107313434_107664642	107319734	G G	C C	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(57): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00609.hp1 HG00621.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01433.hp2 HG01496.hp2 HG01943.hp2 HG01978.hp2 HG02015.hp1 HG02074.hp1 HG02135.hp2 HG02155.hp1 HG02451.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03492.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04204.hp2 NA18747.hp1 NA18946.hp1 NA18946.hp2 NA18954.hp2 NA18964.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18989.hp1 NA18999.hp1 NA19002.hp1 NA19063.hp2 NA19065.hp2 NA19090.hp1 NA20300.hp1 NA20752.hp2	a0002 a0005 a0007 others(3): Show a0002 a0005 a0007 a0008 a0014 a0017	a0002c0002 a0002c0009 a0002c0015 others(10): Show a0002c0002 a0002c0009 a0002c0015 a0002c0018 a0002c0031 a0002c0033 a0005c0007 a0005c0016 a0007c0014 a0007c0032 a0008c0013 a0014c0034 a0017c0017	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(30): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0010 a0002c0002t0012 a0002c0002t0017 a0002c0002t0018 a0002c0002t0023 a0002c0002t0025 a0002c0002t0034 a0002c0002t0036 a0002c0002t0038 a0002c0009t0001 a0002c0009t0003 a0002c0009t0029 a0002c0015t0001 a0002c0015t0007 a0002c0018t0020 a0002c0031t0003 a0002c0033t0001 a0005c0007t0001 a0005c0007t0003 a0005c0007t0007 a0005c0007t0026 a0005c0016t0003 a0007c0014t0008 a0007c0014t0037 a0007c0032t0008 a0008c0013t0008 a0008c0013t0019 a0014c0034t0003 a0017c0017t0003	a0002c0002t0001g0045 a0002c0002t0001g0109 a0002c0002t0001g0117 others(57): Show a0002c0002t0001g0045 a0002c0002t0001g0109 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0128 a0002c0002t0003g0047 a0002c0002t0004g0044 a0002c0002t0004g0046 a0002c0002t0004g0110 a0002c0002t0004g0112 a0002c0002t0004g0114 a0002c0002t0004g0116 a0002c0002t0004g0127 a0002c0002t0007g0172 a0002c0002t0007g0174 a0002c0002t0007g0175 a0002c0002t0007g0176 a0002c0002t0007g0178 a0002c0002t0007g0179 a0002c0002t0007g0186 a0002c0002t0010g0173 a0002c0002t0010g0181 a0002c0002t0010g0182 a0002c0002t0012g0177 a0002c0002t0012g0180 a0002c0002t0017g0167 a0002c0002t0018g0183 a0002c0002t0023g0121 a0002c0002t0025g0164 a0002c0002t0034g0115 a0002c0002t0036g0170 a0002c0002t0038g0184 a0002c0009t0001g0052 a0002c0009t0003g0049 a0002c0009t0003g0050 a0002c0009t0003g0056 a0002c0009t0029g0054 a0002c0015t0001g0043 a0002c0015t0007g0166 a0002c0018t0020g0168 a0002c0031t0003g0051 a0002c0033t0001g0053 a0005c0007t0001g0122 a0005c0007t0003g0057 a0005c0007t0003g0113 a0005c0007t0003g0119 a0005c0007t0007g0169 a0005c0007t0026g0123 a0005c0016t0003g0048 a0005c0016t0003g0161 a0007c0014t0008g0126 a0007c0014t0037g0171 a0007c0032t0008g0160 a0008c0013t0008g0058 a0008c0013t0019g0185 a0014c0034t0003g0055 a0017c0017t0003g0111	60	186	0.3226	c.794 others(3): Show c.794G>C	p.Gly others(6): Show p.Gly265Ala	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/17	1301/5746	794/3315	265/1104	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107319884	C C	T T	missense_variant missense_variant	MODERATE	HG02809.hp2 NA18906.hp1 HG02809.hp2 NA18906.hp1	a0013 a0016 a0013 a0016	a0013c0027 a0016c0028 a0013c0027 a0016c0028	a0013c0027t0001 a0016c0028t0004 a0013c0027t0001 a0016c0028t0004	a0013c0027t0001g0060 a0016c0028t0004g0059 a0013c0027t0001g0060 a0016c0028t0004g0059	2	186	0.0108	c.944 others(3): Show c.944C>T	p.Ala others(6): Show p.Ala315Val	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/17	1451/5746	944/3315	315/1104	chr12	TogoVar

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