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
ADGB_chr6_146593972_146820462	146701026	C C	T T	missense_variant missense_variant	MODERATE	HG01258.hp1 HG01258.hp1	a0019 a0019	a0019c0073 a0019c0073	a0019c0073t0002 a0019c0073t0002	a0019c0073t0002g0173 a0019c0073t0002g0173	1	274	0.0036	c.166 others(4): Show c.1663C>T	p.His others(6): Show p.His555Tyr	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	13/36	1732/5318	1663/5004	555/1667	chr6	TogoVar
ADGB_chr6_146593972_146820462	146701044	A A	G G	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0031 a0031	a0031c0069 a0031c0069	a0031c0069t0001 a0031c0069t0001	a0031c0069t0001g0219 a0031c0069t0001g0219	1	274	0.0036	c.168 others(4): Show c.1681A>G	p.Ser others(6): Show p.Ser561Gly	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	13/36	1750/5318	1681/5004	561/1667	chr6	TogoVar
ADGB_chr6_146593972_146820462	146716953	G G	T T	missense_variant missense_variant	MODERATE	HG00609.hp2 HG01081.hp1 HG01516.hp1 others(32): Show HG00609.hp2 HG01081.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG02109.hp1 HG02145.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03579.hp2 NA18906.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA21309.hp2	a0007 a0008 a0009 others(6): Show a0007 a0008 a0009 a0011 a0012 a0014 a0021 a0027 a0036	a0007c0017 a0007c0021 a0007c0074 others(16): Show a0007c0017 a0007c0021 a0007c0074 a0008c0016 a0008c0067 a0008c0080 a0009c0023 a0009c0038 a0009c0066 a0009c0079 a0011c0032 a0011c0033 a0011c0056 a0012c0031 a0012c0049 a0014c0039 a0021c0078 a0027c0068 a0036c0050	a0007c0017t0001 a0007c0021t0001 a0007c0074t0001 others(19): Show a0007c0017t0001 a0007c0021t0001 a0007c0074t0001 a0008c0016t0002 a0008c0016t0003 a0008c0067t0002 a0008c0080t0008 a0009c0023t0001 a0009c0023t0002 a0009c0038t0001 a0009c0038t0002 a0009c0066t0001 a0009c0079t0009 a0011c0032t0001 a0011c0033t0001 a0011c0056t0001 a0012c0031t0003 a0012c0049t0002 a0014c0039t0001 a0021c0078t0002 a0027c0068t0001 a0036c0050t0002	a0007c0017t0001g0020 a0007c0017t0001g0119 a0007c0017t0001g0230 others(31): Show a0007c0017t0001g0020 a0007c0017t0001g0119 a0007c0017t0001g0230 a0007c0017t0001g0231 a0007c0021t0001g0156 a0007c0021t0001g0198 a0007c0021t0001g0264 a0007c0074t0001g0026 a0008c0016t0002g0024 a0008c0016t0003g0001 a0008c0016t0003g0057 a0008c0016t0003g0224 a0008c0067t0002g0032 a0008c0080t0008g0017 a0009c0023t0001g0005 a0009c0023t0001g0117 a0009c0023t0002g0097 a0009c0038t0001g0124 a0009c0038t0002g0234 a0009c0066t0001g0123 a0009c0079t0009g0018 a0011c0032t0001g0225 a0011c0032t0001g0226 a0011c0033t0001g0050 a0011c0033t0001g0051 a0011c0056t0001g0022 a0012c0031t0003g0003 a0012c0031t0003g0056 a0012c0049t0002g0060 a0014c0039t0001g0126 a0014c0039t0001g0227 a0021c0078t0002g0233 a0027c0068t0001g0228 a0036c0050t0002g0184	35	274	0.1277	c.181 others(4): Show c.1812G>T	p.Glu others(6): Show p.Glu604Asp	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	15/36	1881/5318	1812/5004	604/1667	chr6	TogoVar
ADGB_chr6_146593972_146820462	146717030	A A	C C	missense_variant missense_variant	MODERATE	NA18997.hp1 NA18997.hp1	a0035 a0035	a0035c0065 a0035c0065	a0035c0065t0002 a0035c0065t0002	a0035c0065t0002g0033 a0035c0065t0002g0033	1	274	0.0036	c.188 others(4): Show c.1889A>C	p.Glu others(6): Show p.Glu630Ala	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	15/36	1958/5318	1889/5004	630/1667	chr6	TogoVar
ADGB_chr6_146593972_146820462	146724237	C C	T T	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02258.hp2	a0023 a0023	a0023c0041 a0023c0041	a0023c0041t0003 a0023c0041t0003	a0023c0041t0003g0030 a0023c0041t0003g0030	1	274	0.0036	c.214 others(4): Show c.2147C>T	p.Thr others(6): Show p.Thr716Met	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	18/36	2216/5318	2147/5004	716/1667	chr6	TogoVar
ADGB_chr6_146593972_146820462	146726160	T T	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00738.hp2 HG01255.hp2 others(6): Show HG00639.hp1 HG00738.hp2 HG01255.hp2 HG01516.hp2 HG01884.hp2 HG02257.hp1 HG02602.hp1 NA20805.hp2 NA20905.hp2	a0010 a0018 a0020 others(2): Show a0010 a0018 a0020 a0022 a0025	a0010c0014 a0018c0070 a0020c0043 others(2): Show a0010c0014 a0018c0070 a0020c0043 a0022c0044 a0025c0057	a0010c0014t0001 a0018c0070t0002 a0020c0043t0001 others(2): Show a0010c0014t0001 a0018c0070t0002 a0020c0043t0001 a0022c0044t0001 a0025c0057t0001	a0010c0014t0001g0120 a0010c0014t0001g0132 a0010c0014t0001g0134 others(6): Show a0010c0014t0001g0120 a0010c0014t0001g0132 a0010c0014t0001g0134 a0010c0014t0001g0168 a0010c0014t0001g0209 a0018c0070t0002g0214 a0020c0043t0001g0130 a0022c0044t0001g0223 a0025c0057t0001g0190	9	274	0.0328	c.231 others(4): Show c.2315T>C	p.Ile others(6): Show p.Ile772Thr	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	19/36	2384/5318	2315/5004	772/1667	chr6	TogoVar
ADGB_chr6_146593972_146820462	146733142	G G	A A	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02809.hp2 HG03516.hp2 HG02145.hp1 HG02809.hp2 HG03516.hp2	a0016 a0021 a0016 a0021	a0016c0058 a0016c0075 a0021c0078 a0016c0058 a0016c0075 a0021c0078	a0016c0058t0001 a0016c0075t0002 a0021c0078t0002 a0016c0058t0001 a0016c0075t0002 a0021c0078t0002	a0016c0058t0001g0275 a0016c0075t0002g0222 a0021c0078t0002g0233 a0016c0058t0001g0275 a0016c0075t0002g0222 a0021c0078t0002g0233	3	274	0.0109	c.254 others(4): Show c.2543G>A	p.Arg others(6): Show p.Arg848His	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	21/36	2612/5318	2543/5004	848/1667	chr6	TogoVar
ADGB_chr6_146593972_146820462	146733907	G G	A A	missense_variant missense_variant	MODERATE	HG02683.hp2 HG03927.hp1 HG02683.hp2 HG03927.hp1	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0002 a0015c0024t0002	a0015c0024t0002g0029 a0015c0024t0002g0129 a0015c0024t0002g0029 a0015c0024t0002g0129	2	274	0.0073	c.267 others(4): Show c.2671G>A	p.Val others(6): Show p.Val891Ile	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	22/36	2740/5318	2671/5004	891/1667	chr6	TogoVar
ADGB_chr6_146593972_146820462	146752576	C C	T T	missense_variant missense_variant	MODERATE	HG03195.hp1 HG03195.hp1	a0027 a0027	a0027c0068 a0027c0068	a0027c0068t0001 a0027c0068t0001	a0027c0068t0001g0228 a0027c0068t0001g0228	1	274	0.0036	c.341 others(4): Show c.3412C>T	p.Arg others(7): Show p.Arg1138Cys	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	27/36	3481/5318	3412/5004	1138/1667	chr6	TogoVar
ADGB_chr6_146593972_146820462	146763979	G G	T T	missense_variant missense_variant	MODERATE	HG03486.hp2 HG03486.hp2	a0029 a0029	a0029c0053 a0029c0053	a0029c0053t0001 a0029c0053t0001	a0029c0053t0001g0064 a0029c0053t0001g0064	1	274	0.0036	c.362 others(4): Show c.3629G>T	p.Gly others(7): Show p.Gly1210Val	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	28/36	3698/5318	3629/5004	1210/1667	chr6	TogoVar
ADGB_chr6_146593972_146820462	146764036	C C	A A	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02280.hp2	a0024 a0024	a0024c0045 a0024c0045	a0024c0045t0002 a0024c0045t0002	a0024c0045t0002g0023 a0024c0045t0002g0023	1	274	0.0036	c.368 others(4): Show c.3686C>A	p.Pro others(7): Show p.Pro1229His	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	28/36	3755/5318	3686/5004	1229/1667	chr6	TogoVar
ADGB_chr6_146593972_146820462	146788556	G G	T T	missense_variant missense_variant	MODERATE	HG01891.hp2 HG03209.hp1 NA18522.hp1 others(1): Show HG01891.hp2 HG03209.hp1 NA18522.hp1 NA21309.hp2	a0014 a0032 a0036 a0014 a0032 a0036	a0014c0039 a0032c0046 a0036c0050 a0014c0039 a0032c0046 a0036c0050	a0014c0039t0001 a0032c0046t0002 a0036c0050t0002 a0014c0039t0001 a0032c0046t0002 a0036c0050t0002	a0014c0039t0001g0126 a0014c0039t0001g0227 a0032c0046t0002g0014 others(1): Show a0014c0039t0001g0126 a0014c0039t0001g0227 a0032c0046t0002g0014 a0036c0050t0002g0184	4	274	0.0146	c.448 others(4): Show c.4483G>T	p.Val others(7): Show p.Val1495Leu	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	33/36	4552/5318	4483/5004	1495/1667	chr6	TogoVar
ADGB_chr6_146593972_146820462	146788595	C C	T T	missense_variant missense_variant	MODERATE	HG01243.hp1 NA18747.hp1 HG01243.hp1 NA18747.hp1	a0013 a0013	a0013c0062 a0013c0063 a0013c0062 a0013c0063	a0013c0062t0002 a0013c0063t0002 a0013c0062t0002 a0013c0063t0002	a0013c0062t0002g0043 a0013c0063t0002g0182 a0013c0062t0002g0043 a0013c0063t0002g0182	2	274	0.0073	c.452 others(4): Show c.4522C>T	p.Arg others(7): Show p.Arg1508Trp	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	33/36	4591/5318	4522/5004	1508/1667	chr6	TogoVar
ADGB_chr6_146593972_146820462	146815071	C C	T T	missense_variant missense_variant	MODERATE	NA18522.hp1 NA18522.hp1	a0032 a0032	a0032c0046 a0032c0046	a0032c0046t0002 a0032c0046t0002	a0032c0046t0002g0014 a0032c0046t0002g0014	1	274	0.0036	c.485 others(4): Show c.4858C>T	p.Arg others(7): Show p.Arg1620Trp	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	36/36	4927/5318	4858/5004	1620/1667	chr6	TogoVar
ADGB_chr6_146593972_146820462	146815076	A A	T T	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00438.hp2 HG00544.hp1 others(126): Show HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01952.hp1 HG01981.hp1 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02809.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03239.hp2 HG03486.hp1 HG03540.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0004 a0008 others(10): Show a0001 a0004 a0008 a0012 a0013 a0015 a0018 a0019 a0023 a0024 a0026 a0035 a0036	a0001c0001 a0001c0002 a0001c0004 others(24): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0001c0036 a0001c0061 a0001c0064 a0004c0008 a0004c0010 a0004c0012 a0004c0020 a0004c0047 a0008c0016 a0008c0067 a0008c0080 a0012c0031 a0012c0049 a0013c0062 a0013c0063 a0015c0024 a0018c0070 a0019c0073 a0023c0041 a0024c0045 a0026c0054 a0035c0065 a0036c0050	a0001c0001t0002 a0001c0002t0002 a0001c0004t0002 others(28): Show a0001c0001t0002 a0001c0002t0002 a0001c0004t0002 a0001c0015t0002 a0001c0015t0006 a0001c0036t0002 a0001c0036t0003 a0001c0061t0002 a0001c0064t0002 a0004c0008t0002 a0004c0010t0002 a0004c0012t0002 a0004c0012t0003 a0004c0020t0003 a0004c0047t0002 a0008c0016t0002 a0008c0016t0003 a0008c0067t0002 a0008c0080t0008 a0012c0031t0003 a0012c0049t0002 a0013c0062t0002 a0013c0063t0002 a0015c0024t0002 a0018c0070t0002 a0019c0073t0002 a0023c0041t0003 a0024c0045t0002 a0026c0054t0002 a0035c0065t0002 a0036c0050t0002	a0001c0001t0002g0027 a0001c0001t0002g0038 a0001c0001t0002g0044 others(125): Show a0001c0001t0002g0027 a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0052 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0083 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0148 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0187 a0001c0001t0002g0221 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0253 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0002t0002g0013 a0001c0002t0002g0025 a0001c0002t0002g0028 a0001c0002t0002g0035 a0001c0002t0002g0040 a0001c0002t0002g0042 a0001c0002t0002g0076 a0001c0002t0002g0094 a0001c0002t0002g0096 a0001c0002t0002g0108 a0001c0002t0002g0110 a0001c0002t0002g0143 a0001c0002t0002g0149 a0001c0002t0002g0160 a0001c0002t0002g0165 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0208 a0001c0002t0002g0244 a0001c0002t0002g0248 a0001c0002t0002g0254 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0262 a0001c0004t0002g0002 a0001c0004t0002g0034 a0001c0004t0002g0041 a0001c0004t0002g0067 a0001c0004t0002g0069 a0001c0004t0002g0102 a0001c0004t0002g0104 a0001c0004t0002g0107 a0001c0004t0002g0112 a0001c0004t0002g0144 a0001c0004t0002g0157 a0001c0004t0002g0161 a0001c0004t0002g0183 a0001c0004t0002g0247 a0001c0004t0002g0251 a0001c0004t0002g0252 a0001c0004t0002g0267 a0001c0015t0002g0053 a0001c0015t0002g0127 a0001c0015t0002g0167 a0001c0015t0002g0241 a0001c0015t0006g0012 a0001c0036t0002g0199 a0001c0036t0003g0004 a0001c0061t0002g0113 a0001c0064t0002g0078 a0004c0008t0002g0006 a0004c0008t0002g0086 a0004c0008t0002g0087 a0004c0008t0002g0090 a0004c0008t0002g0118 a0004c0008t0002g0210 a0004c0008t0002g0229 a0004c0008t0002g0239 a0004c0010t0002g0140 a0004c0010t0002g0141 a0004c0010t0002g0178 a0004c0010t0002g0179 a0004c0010t0002g0181 a0004c0010t0002g0202 a0004c0012t0002g0093 a0004c0012t0002g0121 a0004c0012t0002g0137 a0004c0012t0002g0166 a0004c0012t0003g0155 a0004c0020t0003g0061 a0004c0020t0003g0216 a0004c0020t0003g0217 a0004c0047t0002g0082 a0008c0016t0002g0024 a0008c0016t0003g0001 a0008c0016t0003g0057 a0008c0016t0003g0224 a0008c0067t0002g0032 a0008c0080t0008g0017 a0012c0031t0003g0003 a0012c0031t0003g0056 a0012c0049t0002g0060 a0013c0062t0002g0043 a0013c0063t0002g0182 a0015c0024t0002g0029 a0015c0024t0002g0129 a0018c0070t0002g0214 a0019c0073t0002g0173 a0023c0041t0003g0030 a0024c0045t0002g0023 a0026c0054t0002g0021 a0035c0065t0002g0033 a0036c0050t0002g0184	129	274	0.4708	c.486 others(4): Show c.4863A>T	p.Glu others(7): Show p.Glu1621Asp	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	36/36	4932/5318	4863/5004	1621/1667	chr6	TogoVar
ADGB_chr6_146593972_146820462	146815108	A A	G G	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(208): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.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.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(23): Show a0001 a0003 a0004 a0005 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0032 a0035 a0036	a0001c0001 a0001c0002 a0001c0004 others(58): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0001c0036 a0001c0061 a0001c0064 a0003c0005 a0003c0011 a0003c0019 a0003c0022 a0003c0034 a0003c0060 a0003c0076 a0003c0077 a0004c0008 a0004c0010 a0004c0012 a0004c0020 a0004c0047 a0005c0007 a0005c0013 a0005c0025 a0005c0026 a0005c0028 a0005c0030 a0007c0017 a0007c0021 a0007c0074 a0008c0016 a0008c0067 a0008c0080 a0009c0023 a0009c0038 a0009c0066 a0009c0079 a0011c0032 a0011c0033 a0011c0056 a0012c0031 a0012c0049 a0013c0062 a0013c0063 a0014c0039 a0015c0024 a0016c0058 a0016c0075 a0017c0052 a0017c0055 a0018c0070 a0019c0073 a0021c0078 a0022c0044 a0023c0041 a0024c0045 a0025c0057 a0026c0054 a0027c0068 a0032c0046 a0035c0065 a0036c0050	a0001c0001t0002 a0001c0002t0002 a0001c0004t0002 others(64): Show a0001c0001t0002 a0001c0002t0002 a0001c0004t0002 a0001c0015t0002 a0001c0015t0006 a0001c0036t0002 a0001c0036t0003 a0001c0061t0002 a0001c0064t0002 a0003c0005t0001 a0003c0011t0001 a0003c0019t0001 a0003c0022t0001 a0003c0034t0001 a0003c0060t0001 a0003c0076t0001 a0003c0077t0001 a0004c0008t0002 a0004c0010t0002 a0004c0012t0002 a0004c0012t0003 a0004c0020t0003 a0004c0047t0002 a0005c0007t0001 a0005c0013t0001 a0005c0025t0001 a0005c0026t0001 a0005c0028t0001 a0005c0030t0001 a0007c0017t0001 a0007c0021t0001 a0007c0074t0001 a0008c0016t0002 a0008c0016t0003 a0008c0067t0002 a0008c0080t0008 a0009c0023t0001 a0009c0023t0002 a0009c0038t0001 a0009c0038t0002 a0009c0066t0001 a0009c0079t0009 a0011c0032t0001 a0011c0033t0001 a0011c0056t0001 a0012c0031t0003 a0012c0049t0002 a0013c0062t0002 a0013c0063t0002 a0014c0039t0001 a0015c0024t0002 a0016c0058t0001 a0016c0075t0002 a0017c0052t0001 a0017c0055t0001 a0018c0070t0002 a0019c0073t0002 a0021c0078t0002 a0022c0044t0001 a0023c0041t0003 a0024c0045t0002 a0025c0057t0001 a0026c0054t0002 a0027c0068t0001 a0032c0046t0002 a0035c0065t0002 a0036c0050t0002	a0001c0001t0002g0027 a0001c0001t0002g0038 a0001c0001t0002g0044 others(207): Show a0001c0001t0002g0027 a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0052 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0083 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0148 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0187 a0001c0001t0002g0221 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0253 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0002t0002g0013 a0001c0002t0002g0025 a0001c0002t0002g0028 a0001c0002t0002g0035 a0001c0002t0002g0040 a0001c0002t0002g0042 a0001c0002t0002g0076 a0001c0002t0002g0094 a0001c0002t0002g0096 a0001c0002t0002g0108 a0001c0002t0002g0110 a0001c0002t0002g0143 a0001c0002t0002g0149 a0001c0002t0002g0160 a0001c0002t0002g0165 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0208 a0001c0002t0002g0244 a0001c0002t0002g0248 a0001c0002t0002g0254 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0262 a0001c0004t0002g0002 a0001c0004t0002g0034 a0001c0004t0002g0041 a0001c0004t0002g0067 a0001c0004t0002g0069 a0001c0004t0002g0102 a0001c0004t0002g0104 a0001c0004t0002g0107 a0001c0004t0002g0112 a0001c0004t0002g0144 a0001c0004t0002g0157 a0001c0004t0002g0161 a0001c0004t0002g0183 a0001c0004t0002g0247 a0001c0004t0002g0251 a0001c0004t0002g0252 a0001c0004t0002g0267 a0001c0015t0002g0053 a0001c0015t0002g0127 a0001c0015t0002g0167 a0001c0015t0002g0241 a0001c0015t0006g0012 a0001c0036t0002g0199 a0001c0036t0003g0004 a0001c0061t0002g0113 a0001c0064t0002g0078 a0003c0005t0001g0055 a0003c0005t0001g0084 a0003c0005t0001g0125 a0003c0005t0001g0133 a0003c0005t0001g0142 a0003c0005t0001g0150 a0003c0005t0001g0153 a0003c0005t0001g0185 a0003c0005t0001g0186 a0003c0005t0001g0196 a0003c0005t0001g0263 a0003c0005t0001g0274 a0003c0011t0001g0036 a0003c0011t0001g0106 a0003c0011t0001g0111 a0003c0011t0001g0213 a0003c0011t0001g0235 a0003c0011t0001g0237 a0003c0019t0001g0015 a0003c0019t0001g0077 a0003c0019t0001g0188 a0003c0019t0001g0268 a0003c0022t0001g0114 a0003c0022t0001g0145 a0003c0022t0001g0238 a0003c0034t0001g0236 a0003c0034t0001g0271 a0003c0060t0001g0272 a0003c0076t0001g0016 a0003c0077t0001g0273 a0004c0008t0002g0006 a0004c0008t0002g0086 a0004c0008t0002g0087 a0004c0008t0002g0090 a0004c0008t0002g0118 a0004c0008t0002g0210 a0004c0008t0002g0229 a0004c0008t0002g0239 a0004c0010t0002g0140 a0004c0010t0002g0141 a0004c0010t0002g0178 a0004c0010t0002g0179 a0004c0010t0002g0181 a0004c0010t0002g0202 a0004c0012t0002g0093 a0004c0012t0002g0121 a0004c0012t0002g0137 a0004c0012t0002g0166 a0004c0012t0003g0155 a0004c0020t0003g0061 a0004c0020t0003g0216 a0004c0020t0003g0217 a0004c0047t0002g0082 a0005c0007t0001g0007 a0005c0007t0001g0008 a0005c0007t0001g0079 a0005c0007t0001g0085 a0005c0007t0001g0088 a0005c0007t0001g0207 a0005c0007t0001g0218 a0005c0007t0001g0232 a0005c0013t0001g0010 a0005c0013t0001g0075 a0005c0013t0001g0089 a0005c0013t0001g0099 a0005c0013t0001g0154 a0005c0025t0001g0058 a0005c0025t0001g0059 a0005c0026t0001g0054 a0005c0026t0001g0128 a0005c0028t0001g0062 a0005c0028t0001g0063 a0005c0030t0001g0109 a0005c0030t0001g0169 a0007c0017t0001g0020 a0007c0017t0001g0119 a0007c0017t0001g0230 a0007c0017t0001g0231 a0007c0021t0001g0156 a0007c0021t0001g0198 a0007c0021t0001g0264 a0007c0074t0001g0026 a0008c0016t0002g0024 a0008c0016t0003g0001 a0008c0016t0003g0057 a0008c0016t0003g0224 a0008c0067t0002g0032 a0008c0080t0008g0017 a0009c0023t0001g0005 a0009c0023t0001g0117 a0009c0023t0002g0097 a0009c0038t0001g0124 a0009c0038t0002g0234 a0009c0066t0001g0123 a0009c0079t0009g0018 a0011c0032t0001g0225 a0011c0032t0001g0226 a0011c0033t0001g0050 a0011c0033t0001g0051 a0011c0056t0001g0022 a0012c0031t0003g0003 a0012c0031t0003g0056 a0012c0049t0002g0060 a0013c0062t0002g0043 a0013c0063t0002g0182 a0014c0039t0001g0126 a0014c0039t0001g0227 a0015c0024t0002g0029 a0015c0024t0002g0129 a0016c0058t0001g0275 a0016c0075t0002g0222 a0017c0052t0001g0011 a0017c0055t0001g0009 a0018c0070t0002g0214 a0019c0073t0002g0173 a0021c0078t0002g0233 a0022c0044t0001g0223 a0023c0041t0003g0030 a0024c0045t0002g0023 a0025c0057t0001g0190 a0026c0054t0002g0021 a0027c0068t0001g0228 a0032c0046t0002g0014 a0035c0065t0002g0033 a0036c0050t0002g0184	211	274	0.7701	c.489 others(4): Show c.4895A>G	p.His others(7): Show p.His1632Arg	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	36/36	4964/5318	4895/5004	1632/1667	chr6	TogoVar
ADGRA1_chr10_133082924_133136675	133098722	G G	A A	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02109.hp2 HG02922.hp2 others(5): Show HG02055.hp1 HG02109.hp2 HG02922.hp2 HG02976.hp1 HG03209.hp1 HG03225.hp2 HG03579.hp1 NA20129.hp1	a0002 a0006 a0002 a0006	a0002c0005 a0002c0007 a0006c0011 a0002c0005 a0002c0007 a0006c0011	a0002c0005t0005 a0002c0005t0025 a0002c0005t0034 others(2): Show a0002c0005t0005 a0002c0005t0025 a0002c0005t0034 a0002c0007t0006 a0006c0011t0005	a0002c0005t0005g0259 a0002c0005t0005g0260 a0002c0005t0005g0261 others(5): Show a0002c0005t0005g0259 a0002c0005t0005g0260 a0002c0005t0005g0261 a0002c0005t0025g0258 a0002c0005t0034g0251 a0002c0007t0006g0352 a0002c0007t0006g0353 a0006c0011t0005g0252	8	366	0.0219	c.214 others(3): Show c.214G>A	p.Gly others(5): Show p.Gly72Ser	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	4/7	631/4264	214/1683	72/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133102832	C C	T T	missense_variant missense_variant	MODERATE	NA18946.hp1 NA19009.hp1 NA18946.hp1 NA19009.hp1	a0003 a0003	a0003c0027 a0003c0028 a0003c0027 a0003c0028	a0003c0027t0012 a0003c0028t0014 a0003c0027t0012 a0003c0028t0014	a0003c0027t0012g0046 a0003c0028t0014g0064 a0003c0027t0012g0046 a0003c0028t0014g0064	2	366	0.0055	c.391 others(3): Show c.391C>T	p.Pro others(6): Show p.Pro131Ser	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/7	808/4264	391/1683	131/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128471	C C	G G	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0005 a0006c0011t0005	a0006c0011t0005g0252 a0006c0011t0005g0252	1	366	0.0027	c.643 others(3): Show c.643C>G	p.Pro others(6): Show p.Pro215Ala	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1060/4264	643/1683	215/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128570	A A	T T	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0001 a0008c0025t0001	a0008c0025t0001g0129 a0008c0025t0001g0129	1	366	0.0027	c.742 others(3): Show c.742A>T	p.Asn others(6): Show p.Asn248Tyr	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1159/4264	742/1683	248/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128588	G G	T T	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0001 a0008c0025t0001	a0008c0025t0001g0129 a0008c0025t0001g0129	1	366	0.0027	c.760 others(3): Show c.760G>T	p.Ala others(6): Show p.Ala254Ser	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1177/4264	760/1683	254/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128595	T T	A A	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0001 a0008c0025t0001	a0008c0025t0001g0129 a0008c0025t0001g0129	1	366	0.0027	c.767 others(3): Show c.767T>A	p.Leu others(6): Show p.Leu256Gln	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1184/4264	767/1683	256/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128618	T T	C C	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0001 a0008c0025t0001	a0008c0025t0001g0129 a0008c0025t0001g0129	1	366	0.0027	c.790 others(3): Show c.790T>C	p.Phe others(6): Show p.Phe264Leu	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1207/4264	790/1683	264/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128633	A A	C C	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0001 a0008c0025t0001	a0008c0025t0001g0129 a0008c0025t0001g0129	1	366	0.0027	c.805 others(3): Show c.805A>C	p.Thr others(6): Show p.Thr269Pro	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1222/4264	805/1683	269/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128649	C C	T T	missense_variant missense_variant	MODERATE	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	366	0.0027	c.821 others(3): Show c.821C>T	p.Ala others(6): Show p.Ala274Val	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1238/4264	821/1683	274/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128658	T T	G G	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0001 a0008c0025t0001	a0008c0025t0001g0129 a0008c0025t0001g0129	1	366	0.0027	c.830 others(3): Show c.830T>G	p.Val others(6): Show p.Val277Gly	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1247/4264	830/1683	277/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128715	T T	A A	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0001 a0008c0025t0001	a0008c0025t0001g0129 a0008c0025t0001g0129	1	366	0.0027	c.887 others(3): Show c.887T>A	p.Val others(6): Show p.Val296Glu	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1304/4264	887/1683	296/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128738	A A	C C	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0001 a0008c0025t0001	a0008c0025t0001g0129 a0008c0025t0001g0129	1	366	0.0027	c.910 others(3): Show c.910A>C	p.Ile others(6): Show p.Ile304Leu	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1327/4264	910/1683	304/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128739	T T	A A	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0001 a0008c0025t0001	a0008c0025t0001g0129 a0008c0025t0001g0129	1	365	0.0027	c.911 others(3): Show c.911T>A	p.Ile others(6): Show p.Ile304Asn	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1328/4264	911/1683	304/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128999	C C	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01884.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0060 a0005c0013t0060	a0005c0013t0060g0254 a0005c0013t0060g0254	1	366	0.0027	c.117 others(4): Show c.1171C>A	p.Pro others(6): Show p.Pro391Thr	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1588/4264	1171/1683	391/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133129183	G G	A A	missense_variant missense_variant	MODERATE	NA19070.hp2 NA19070.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0012 a0010c0014t0012	a0010c0014t0012g0101 a0010c0014t0012g0101	1	366	0.0027	c.135 others(4): Show c.1355G>A	p.Arg others(6): Show p.Arg452His	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1772/4264	1355/1683	452/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133129194	C C	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp1	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0001 a0004c0020t0001	a0004c0020t0001g0215 a0004c0020t0001g0215	1	366	0.0027	c.136 others(4): Show c.1366C>A	p.Pro others(6): Show p.Pro456Thr	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1783/4264	1366/1683	456/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133129278	C C	T T	missense_variant missense_variant	MODERATE	HG03486.hp2 HG03486.hp2	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0001 a0007c0022t0001	a0007c0022t0001g0233 a0007c0022t0001g0233	1	366	0.0027	c.145 others(4): Show c.1450C>T	p.Pro others(6): Show p.Pro484Ser	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1867/4264	1450/1683	484/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133129461	G G	T T	missense_variant missense_variant	MODERATE	NA19012.hp2 NA19012.hp2	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0001 a0009c0021t0001	a0009c0021t0001g0256 a0009c0021t0001g0256	1	366	0.0027	c.163 others(4): Show c.1633G>T	p.Gly others(6): Show p.Gly545Trp	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	2050/4264	1633/1683	545/560	chr10	TogoVar
ADGRA2_chr8_37791883_37849896	37797389	A A	G G	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02572.hp1 HG02615.hp1 others(4): Show HG02257.hp2 HG02572.hp1 HG02615.hp1 HG02809.hp2 HG03486.hp1 HG03540.hp2 NA19240.hp1	a0005 a0005	a0005c0014 a0005c0043 a0005c0044 others(1): Show a0005c0014 a0005c0043 a0005c0044 a0005c0045	a0005c0014t0002 a0005c0014t0005 a0005c0014t0007 others(3): Show a0005c0014t0002 a0005c0014t0005 a0005c0014t0007 a0005c0043t0004 a0005c0044t0001 a0005c0045t0001	a0005c0014t0002g0157 a0005c0014t0002g0158 a0005c0014t0005g0155 others(4): Show a0005c0014t0002g0157 a0005c0014t0002g0158 a0005c0014t0005g0155 a0005c0014t0007g0188 a0005c0043t0004g0156 a0005c0044t0001g0159 a0005c0045t0001g0154	7	368	0.0190	c.121 others(3): Show c.121A>G	p.Ile others(5): Show p.Ile41Val	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	1/19	507/6944	121/4017	41/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37831448	G G	A A	missense_variant missense_variant	MODERATE	NA20752.hp2 NA20752.hp2	a0021 a0021	a0021c0021 a0021c0021	a0021c0021t0001 a0021c0021t0001	a0021c0021t0001g0136 a0021c0021t0001g0136	1	368	0.0027	c.958 others(3): Show c.958G>A	p.Val others(6): Show p.Val320Met	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	8/19	1344/6944	958/4017	320/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37831553	G G	A A	missense_variant missense_variant	MODERATE	HG03669.hp2 HG03669.hp2	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0001 a0018c0022t0001	a0018c0022t0001g0346 a0018c0022t0001g0346	1	368	0.0027	c.106 others(4): Show c.1063G>A	p.Ala others(6): Show p.Ala355Thr	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	8/19	1449/6944	1063/4017	355/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37833083	G G	A A	missense_variant missense_variant	MODERATE	HG00735.hp1 HG00735.hp1	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0001 a0011c0023t0001	a0011c0023t0001g0271 a0011c0023t0001g0271	1	368	0.0027	c.117 others(4): Show c.1171G>A	p.Gly others(6): Show p.Gly391Ser	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	9/19	1557/6944	1171/4017	391/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37833086	G G	A A	missense_variant missense_variant	MODERATE	HG01358.hp1 HG01358.hp1	a0014 a0014	a0014c0024 a0014c0024	a0014c0024t0001 a0014c0024t0001	a0014c0024t0001g0118 a0014c0024t0001g0118	1	368	0.0027	c.117 others(4): Show c.1174G>A	p.Gly others(6): Show p.Gly392Arg	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	9/19	1560/6944	1174/4017	392/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37833785	A A	G G	missense_variant missense_variant	MODERATE	HG01257.hp1 HG01257.hp1	a0013 a0013	a0013c0037 a0013c0037	a0013c0037t0001 a0013c0037t0001	a0013c0037t0001g0080 a0013c0037t0001g0080	1	368	0.0027	c.139 others(4): Show c.1394A>G	p.Tyr others(6): Show p.Tyr465Cys	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	10/19	1780/6944	1394/4017	465/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37833812	T T	G G	missense_variant missense_variant	MODERATE	NA18943.hp1 NA18943.hp1	a0019 a0019	a0019c0026 a0019c0026	a0019c0026t0016 a0019c0026t0016	a0019c0026t0016g0022 a0019c0026t0016g0022	1	368	0.0027	c.142 others(4): Show c.1421T>G	p.Leu others(6): Show p.Leu474Trp	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	10/19	1807/6944	1421/4017	474/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37835186	G G	A A	missense_variant missense_variant	MODERATE	HG00735.hp2 HG00735.hp2	a0012 a0012	a0012c0028 a0012c0028	a0012c0028t0001 a0012c0028t0001	a0012c0028t0001g0186 a0012c0028t0001g0186	1	368	0.0027	c.162 others(4): Show c.1621G>A	p.Val others(6): Show p.Val541Met	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	12/19	2007/6944	1621/4017	541/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37835213	C C	T T	missense_variant missense_variant	MODERATE	HG03654.hp2 HG03654.hp2	a0017 a0017	a0017c0036 a0017c0036	a0017c0036t0001 a0017c0036t0001	a0017c0036t0001g0013 a0017c0036t0001g0013	1	368	0.0027	c.164 others(4): Show c.1648C>T	p.Pro others(6): Show p.Pro550Ser	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	12/19	2034/6944	1648/4017	550/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37835761	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG03098.hp2 HG03486.hp2 others(2): Show HG01884.hp2 HG03098.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0107 a0008c0009t0001g0108 a0008c0009t0001g0129 others(2): Show a0008c0009t0001g0107 a0008c0009t0001g0108 a0008c0009t0001g0129 a0008c0009t0001g0226 a0008c0009t0001g0227	5	368	0.0136	c.204 others(4): Show c.2041G>A	p.Ala others(6): Show p.Ala681Thr	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	13/19	2427/6944	2041/4017	681/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37837875	G G	A A	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0016 a0016	a0016c0039 a0016c0039	a0016c0039t0001 a0016c0039t0001	a0016c0039t0001g0369 a0016c0039t0001g0369	1	368	0.0027	c.219 others(4): Show c.2195G>A	p.Arg others(6): Show p.Arg732His	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	14/19	2581/6944	2195/4017	732/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37838989	G G	A A	missense_variant missense_variant	MODERATE	HG02809.hp1 HG02809.hp1	a0015 a0015	a0015c0029 a0015c0029	a0015c0029t0001 a0015c0029t0001	a0015c0029t0001g0314 a0015c0029t0001g0314	1	368	0.0027	c.229 others(4): Show c.2293G>A	p.Ala others(6): Show p.Ala765Thr	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	15/19	2679/6944	2293/4017	765/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37841384	G G	C C	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02280.hp2 HG02572.hp2 others(3): Show HG02055.hp1 HG02280.hp2 HG02572.hp2 HG03139.hp2 HG03209.hp2 HG03579.hp1	a0007 a0007	a0007c0008 a0007c0030 a0007c0008 a0007c0030	a0007c0008t0001 a0007c0030t0001 a0007c0008t0001 a0007c0030t0001	a0007c0008t0001g0191 a0007c0008t0001g0194 a0007c0008t0001g0195 others(3): Show a0007c0008t0001g0191 a0007c0008t0001g0194 a0007c0008t0001g0195 a0007c0008t0001g0196 a0007c0008t0001g0319 a0007c0030t0001g0189	6	368	0.0163	c.304 others(4): Show c.3046G>C	p.Gly others(7): Show p.Gly1016Arg	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	19/19	3432/6944	3046/4017	1016/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37841588	T T	A A	missense_variant missense_variant	MODERATE	HG02451.hp1 HG03195.hp2 HG03540.hp1 HG02451.hp1 HG03195.hp2 HG03540.hp1	a0010 a0016 a0010 a0016	a0010c0025 a0010c0031 a0016c0039 a0010c0025 a0010c0031 a0016c0039	a0010c0025t0012 a0010c0031t0011 a0016c0039t0001 a0010c0025t0012 a0010c0031t0011 a0016c0039t0001	a0010c0025t0012g0002 a0010c0031t0011g0122 a0016c0039t0001g0369 a0010c0025t0012g0002 a0010c0031t0011g0122 a0016c0039t0001g0369	3	368	0.0082	c.325 others(4): Show c.3250T>A	p.Cys others(7): Show p.Cys1084Ser	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	19/19	3636/6944	3250/4017	1084/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37841663	G G	A A	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0016 a0016	a0016c0039 a0016c0039	a0016c0039t0001 a0016c0039t0001	a0016c0039t0001g0369 a0016c0039t0001g0369	1	368	0.0027	c.332 others(4): Show c.3325G>A	p.Val others(7): Show p.Val1109Met	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	19/19	3711/6944	3325/4017	1109/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37841876	C C	G G	missense_variant missense_variant	MODERATE	HG00597.hp2 HG00609.hp1 NA18972.hp2 others(6): Show HG00597.hp2 HG00609.hp1 NA18972.hp2 NA18978.hp2 NA18993.hp1 NA19064.hp2 NA19065.hp1 NA19077.hp1 NA19086.hp1	a0003 a0006 a0003 a0006	a0003c0006 a0006c0035 a0003c0006 a0006c0035	a0003c0006t0001 a0003c0006t0015 a0006c0035t0001 a0003c0006t0001 a0003c0006t0015 a0006c0035t0001	a0003c0006t0001g0015 a0003c0006t0001g0029 a0003c0006t0001g0032 others(6): Show a0003c0006t0001g0015 a0003c0006t0001g0029 a0003c0006t0001g0032 a0003c0006t0001g0036 a0003c0006t0001g0069 a0003c0006t0001g0085 a0003c0006t0001g0119 a0003c0006t0015g0087 a0006c0035t0001g0057	9	368	0.0245	c.353 others(4): Show c.3538C>G	p.Arg others(7): Show p.Arg1180Gly	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	19/19	3924/6944	3538/4017	1180/1338	chr8	TogoVar

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