Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
ADGRG4_chrX_136295963_136421890	136348661	C C	A A	missense_variant missense_variant	MODERATE	HG02970.hp1 HG02970.hp1	a0023 a0023	a0023c0032 a0023c0032	a0023c0032t0001 a0023c0032t0001	a0023c0032t0001g0004 a0023c0032t0001g0004	1	227	0.0044	c.495 others(4): Show c.4955C>A	p.Thr others(7): Show p.Thr1652Asn	ADGRG4	ENSG00000156920.11	transcript	ENST00000394143.6	protein_coding	6/26	5246/9933	4955/9243	1652/3080	chrX	TogoVar
ADGRG4_chrX_136295963_136421890	136349077	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00423.hp2 HG00597.hp1 others(103): Show HG00099.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01243.hp1 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02109.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18975.hp1 NA18989.hp1 NA18991.hp2 NA18995.hp1 NA18998.hp1 NA19005.hp1 NA19011.hp2 NA19030.hp2 NA19058.hp1 NA19060.hp1 NA19066.hp1 NA19067.hp1 NA19072.hp1 NA19076.hp1 NA19077.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19089.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0004 a0005 others(9): Show a0001 a0004 a0005 a0006 a0008 a0012 a0013 a0016 a0019 a0020 a0028 a0030	a0001c0001 a0001c0010 a0001c0033 others(14): Show a0001c0001 a0001c0010 a0001c0033 a0001c0040 a0004c0004 a0004c0015 a0004c0020 a0005c0006 a0006c0007 a0008c0016 a0012c0034 a0013c0041 a0016c0014 a0019c0037 a0020c0011 a0028c0039 a0030c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0010t0001 a0001c0033t0001 a0001c0040t0001 a0004c0004t0001 a0004c0015t0001 a0004c0020t0001 a0005c0006t0001 a0006c0007t0001 a0008c0016t0001 a0012c0034t0001 a0013c0041t0001 a0016c0014t0001 a0019c0037t0001 a0020c0011t0001 a0028c0039t0001 a0030c0035t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(102): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0002g0003 a0001c0001t0002g0219 a0001c0001t0003g0194 a0001c0001t0004g0192 a0001c0010t0001g0146 a0001c0010t0001g0169 a0001c0033t0001g0213 a0001c0040t0001g0224 a0004c0004t0001g0028 a0004c0004t0001g0085 a0004c0004t0001g0108 a0004c0004t0001g0114 a0004c0004t0001g0116 a0004c0004t0001g0139 a0004c0015t0001g0182 a0004c0020t0001g0131 a0005c0006t0001g0117 a0005c0006t0001g0152 a0005c0006t0001g0154 a0005c0006t0001g0164 a0005c0006t0001g0171 a0006c0007t0001g0032 a0006c0007t0001g0071 a0006c0007t0001g0106 a0008c0016t0001g0013 a0012c0034t0001g0177 a0013c0041t0001g0225 a0016c0014t0001g0006 a0019c0037t0001g0142 a0020c0011t0001g0216 a0028c0039t0001g0148 a0030c0035t0001g0167	106	227	0.4670	c.537 others(4): Show c.5371T>C	p.Phe others(7): Show p.Phe1791Leu	ADGRG4	ENSG00000156920.11	transcript	ENST00000394143.6	protein_coding	6/26	5662/9933	5371/9243	1791/3080	chrX	TogoVar
ADGRG4_chrX_136295963_136421890	136349515	A A	G G	missense_variant missense_variant	MODERATE	NA20905.hp1 NA20905.hp1	a0030 a0030	a0030c0035 a0030c0035	a0030c0035t0001 a0030c0035t0001	a0030c0035t0001g0167 a0030c0035t0001g0167	1	227	0.0044	c.580 others(4): Show c.5809A>G	p.Met others(7): Show p.Met1937Val	ADGRG4	ENSG00000156920.11	transcript	ENST00000394143.6	protein_coding	6/26	6100/9933	5809/9243	1937/3080	chrX	TogoVar
ADGRG4_chrX_136295963_136421890	136349898	G G	A A	missense_variant missense_variant	MODERATE	HG02074.hp1 HG02074.hp1	a0014 a0014	a0014c0024 a0014c0024	a0014c0024t0001 a0014c0024t0001	a0014c0024t0001g0053 a0014c0024t0001g0053	1	227	0.0044	c.619 others(4): Show c.6192G>A	p.Met others(7): Show p.Met2064Ile	ADGRG4	ENSG00000156920.11	transcript	ENST00000394143.6	protein_coding	6/26	6483/9933	6192/9243	2064/3080	chrX	TogoVar
ADGRG4_chrX_136295963_136421890	136349942	G G	C C	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01109.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0013 a0008c0016t0001g0013	1	227	0.0044	c.623 others(4): Show c.6236G>C	p.Gly others(7): Show p.Gly2079Ala	ADGRG4	ENSG00000156920.11	transcript	ENST00000394143.6	protein_coding	6/26	6527/9933	6236/9243	2079/3080	chrX	TogoVar
ADGRG4_chrX_136295963_136421890	136350024	G G	T T	missense_variant missense_variant	MODERATE	HG02818.hp2 HG02818.hp2	a0022 a0022	a0022c0023 a0022c0023	a0022c0023t0001 a0022c0023t0001	a0022c0023t0001g0005 a0022c0023t0001g0005	1	227	0.0044	c.631 others(4): Show c.6318G>T	p.Glu others(7): Show p.Glu2106Asp	ADGRG4	ENSG00000156920.11	transcript	ENST00000394143.6	protein_coding	6/26	6609/9933	6318/9243	2106/3080	chrX	TogoVar
ADGRG4_chrX_136295963_136421890	136350134	G G	T T	missense_variant missense_variant	MODERATE	HG02818.hp2 HG02818.hp2	a0022 a0022	a0022c0023 a0022c0023	a0022c0023t0001 a0022c0023t0001	a0022c0023t0001g0005 a0022c0023t0001g0005	1	227	0.0044	c.642 others(4): Show c.6428G>T	p.Gly others(7): Show p.Gly2143Val	ADGRG4	ENSG00000156920.11	transcript	ENST00000394143.6	protein_coding	6/26	6719/9933	6428/9243	2143/3080	chrX	TogoVar
ADGRG4_chrX_136295963_136421890	136361530	C C	T T	missense_variant missense_variant	MODERATE	HG02818.hp2 HG02818.hp2	a0022 a0022	a0022c0023 a0022c0023	a0022c0023t0001 a0022c0023t0001	a0022c0023t0001g0005 a0022c0023t0001g0005	1	227	0.0044	c.722 others(4): Show c.7220C>T	p.Thr others(7): Show p.Thr2407Met	ADGRG4	ENSG00000156920.11	transcript	ENST00000394143.6	protein_coding	12/26	7511/9933	7220/9243	2407/3080	chrX	TogoVar
ADGRG4_chrX_136295963_136421890	136371445	A A	G G	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02451.hp1 HG01891.hp1 HG02451.hp1	a0010 a0016 a0010 a0016	a0010c0022 a0016c0014 a0010c0022 a0016c0014	a0010c0022t0001 a0016c0014t0001 a0010c0022t0001 a0016c0014t0001	a0010c0022t0001g0187 a0016c0014t0001g0006 a0010c0022t0001g0187 a0016c0014t0001g0006	2	227	0.0088	c.751 others(4): Show c.7514A>G	p.Glu others(7): Show p.Glu2505Gly	ADGRG4	ENSG00000156920.11	transcript	ENST00000394143.6	protein_coding	14/26	7805/9933	7514/9243	2505/3080	chrX	TogoVar
ADGRG4_chrX_136295963_136421890	136395411	C C	T T	missense_variant missense_variant	MODERATE	NA19043.hp1 NA19043.hp1	a0027 a0027	a0027c0027 a0027c0027	a0027c0027t0001 a0027c0027t0001	a0027c0027t0001g0031 a0027c0027t0001g0031	1	227	0.0044	c.810 others(4): Show c.8102C>T	p.Ser others(7): Show p.Ser2701Leu	ADGRG4	ENSG00000156920.11	transcript	ENST00000394143.6	protein_coding	19/26	8393/9933	8102/9243	2701/3080	chrX	TogoVar
ADGRG4_chrX_136295963_136421890	136399970	T T	C C	missense_variant missense_variant	MODERATE	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0035 a0002c0028t0001g0035	1	227	0.0044	c.842 others(4): Show c.8429T>C	p.Ile others(7): Show p.Ile2810Thr	ADGRG4	ENSG00000156920.11	transcript	ENST00000394143.6	protein_coding	21/26	8720/9933	8429/9243	2810/3080	chrX	TogoVar
ADGRG4_chrX_136295963_136421890	136405735	G G	T T	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0002 a0007c0008t0001g0002	2	227	0.0088	c.869 others(4): Show c.8698G>T	p.Ala others(7): Show p.Ala2900Ser	ADGRG4	ENSG00000156920.11	transcript	ENST00000394143.6	protein_coding	23/26	8989/9933	8698/9243	2900/3080	chrX	TogoVar
ADGRG4_chrX_136295963_136421890	136414298	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01123.hp1 HG02055.hp1 others(5): Show HG01109.hp1 HG01123.hp1 HG02055.hp1 HG02109.hp2 HG02572.hp1 HG02886.hp2 HG02970.hp1 HG03195.hp2	a0002 a0008 a0023 a0002 a0008 a0023	a0002c0005 a0008c0016 a0023c0032 a0002c0005 a0008c0016 a0023c0032	a0002c0005t0001 a0008c0016t0001 a0023c0032t0001 a0002c0005t0001 a0008c0016t0001 a0023c0032t0001	a0002c0005t0001g0007 a0002c0005t0001g0008 a0002c0005t0001g0009 others(5): Show a0002c0005t0001g0007 a0002c0005t0001g0008 a0002c0005t0001g0009 a0002c0005t0001g0010 a0002c0005t0001g0011 a0002c0005t0001g0012 a0008c0016t0001g0013 a0023c0032t0001g0004	8	227	0.0352	c.917 others(4): Show c.9176G>A	p.Gly others(7): Show p.Gly3059Asp	ADGRG4	ENSG00000156920.11	transcript	ENST00000394143.6	protein_coding	25/26	9467/9933	9176/9243	3059/3080	chrX	TogoVar
ADGRG5_chr16_57537643_57582189	57562146	A A	C C	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02886.hp1 HG02622.hp2 HG02886.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0016 a0005c0011t0016	a0005c0011t0016g0026 a0005c0011t0016g0026	2	404	0.0050	c.53A others(2): Show c.53A>C	p.Asn others(5): Show p.Asn18Thr	ADGRG5	ENSG00000159618.16	transcript	ENST00000349457.8	protein_coding	2/12	150/3335	53/1587	18/528	chr16	TogoVar
ADGRG5_chr16_57537643_57582189	57562151	A A	G G	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02451.hp1	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0001 a0009c0020t0001	a0009c0020t0001g0109 a0009c0020t0001g0109	1	404	0.0025	c.58A others(2): Show c.58A>G	p.Thr others(5): Show p.Thr20Ala	ADGRG5	ENSG00000159618.16	transcript	ENST00000349457.8	protein_coding	2/12	155/3335	58/1587	20/528	chr16	TogoVar
ADGRG5_chr16_57537643_57582189	57563235	G G	T T	missense_variant missense_variant	MODERATE	HG02723.hp1 HG02723.hp1	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0028 a0011c0019t0028	a0011c0019t0028g0206 a0011c0019t0028g0206	1	404	0.0025	c.285 others(3): Show c.285G>T	p.Lys others(5): Show p.Lys95Asn	ADGRG5	ENSG00000159618.16	transcript	ENST00000349457.8	protein_coding	4/12	382/3335	285/1587	95/528	chr16	TogoVar
ADGRG5_chr16_57537643_57582189	57563236	C C	G G	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02886.hp1 HG02622.hp2 HG02886.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0016 a0005c0011t0016	a0005c0011t0016g0026 a0005c0011t0016g0026	2	404	0.0050	c.286 others(3): Show c.286C>G	p.Arg others(5): Show p.Arg96Gly	ADGRG5	ENSG00000159618.16	transcript	ENST00000349457.8	protein_coding	4/12	383/3335	286/1587	96/528	chr16	TogoVar
ADGRG5_chr16_57537643_57582189	57563906	G G	A A	missense_variant missense_variant	MODERATE	NA19089.hp1 NA19089.hp1	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0003 a0013c0012t0003	a0013c0012t0003g0088 a0013c0012t0003g0088	1	404	0.0025	c.356 others(3): Show c.356G>A	p.Arg others(6): Show p.Arg119Gln	ADGRG5	ENSG00000159618.16	transcript	ENST00000349457.8	protein_coding	5/12	453/3335	356/1587	119/528	chr16	TogoVar
ADGRG5_chr16_57537643_57582189	57566717	G G	A A	missense_variant missense_variant	MODERATE	NA18986.hp1 NA19056.hp1 NA18986.hp1 NA19056.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0007 a0007c0008t0001g0007	2	404	0.0050	c.665 others(3): Show c.665G>A	p.Arg others(6): Show p.Arg222His	ADGRG5	ENSG00000159618.16	transcript	ENST00000349457.8	protein_coding	7/12	762/3335	665/1587	222/528	chr16	TogoVar
ADGRG5_chr16_57537643_57582189	57567530	G G	A A	missense_variant missense_variant	MODERATE	HG01952.hp1 HG01952.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0316 a0008c0013t0001g0316	1	404	0.0025	c.760 others(3): Show c.760G>A	p.Val others(6): Show p.Val254Met	ADGRG5	ENSG00000159618.16	transcript	ENST00000349457.8	protein_coding	8/12	857/3335	760/1587	254/528	chr16	TogoVar
ADGRG5_chr16_57537643_57582189	57567878	C C	T T	missense_variant missense_variant	MODERATE	HG02056.hp1 NA18962.hp1 HG02056.hp1 NA18962.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0004 a0004c0010t0004	a0004c0010t0004g0134 a0004c0010t0004g0175 a0004c0010t0004g0134 a0004c0010t0004g0175	2	404	0.0050	c.844 others(3): Show c.844C>T	p.Arg others(6): Show p.Arg282Cys	ADGRG5	ENSG00000159618.16	transcript	ENST00000349457.8	protein_coding	9/12	941/3335	844/1587	282/528	chr16	TogoVar
ADGRG5_chr16_57537643_57582189	57567879	G G	A A	missense_variant missense_variant	MODERATE	HG01928.hp1 HG01928.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0002 a0004c0014t0002	a0004c0014t0002g0180 a0004c0014t0002g0180	1	404	0.0025	c.845 others(3): Show c.845G>A	p.Arg others(6): Show p.Arg282His	ADGRG5	ENSG00000159618.16	transcript	ENST00000349457.8	protein_coding	9/12	942/3335	845/1587	282/528	chr16	TogoVar
ADGRG5_chr16_57537643_57582189	57567932	C C	G G	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02109.hp1 HG02486.hp2 others(2): Show HG01891.hp2 HG02109.hp1 HG02486.hp2 HG02965.hp2 HG03195.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0037 a0003c0006t0005g0038 a0003c0006t0005g0274 a0003c0006t0005g0037 a0003c0006t0005g0038 a0003c0006t0005g0274	5	404	0.0124	c.898 others(3): Show c.898C>G	p.Leu others(6): Show p.Leu300Val	ADGRG5	ENSG00000159618.16	transcript	ENST00000349457.8	protein_coding	9/12	995/3335	898/1587	300/528	chr16	TogoVar
ADGRG5_chr16_57537643_57582189	57567993	C C	T T	missense_variant missense_variant	MODERATE	NA21309.hp1 NA21309.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0019 a0014c0018t0019	a0014c0018t0019g0286 a0014c0018t0019g0286	1	404	0.0025	c.959 others(3): Show c.959C>T	p.Ala others(6): Show p.Ala320Val	ADGRG5	ENSG00000159618.16	transcript	ENST00000349457.8	protein_coding	9/12	1056/3335	959/1587	320/528	chr16	TogoVar
ADGRG5_chr16_57537643_57582189	57568089	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG01891.hp1 HG02145.hp1 others(12): Show HG01884.hp2 HG01891.hp1 HG02145.hp1 HG02615.hp2 HG02647.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03209.hp2 NA19043.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0002 a0002	a0002c0004 a0002c0007 a0002c0004 a0002c0007	a0002c0004t0005 a0002c0004t0011 a0002c0004t0013 others(3): Show a0002c0004t0005 a0002c0004t0011 a0002c0004t0013 a0002c0007t0006 a0002c0007t0008 a0002c0007t0024	a0002c0004t0005g0110 a0002c0004t0005g0111 a0002c0004t0005g0320 others(9): Show a0002c0004t0005g0110 a0002c0004t0005g0111 a0002c0004t0005g0320 a0002c0004t0005g0325 a0002c0004t0011g0005 a0002c0004t0013g0127 a0002c0004t0013g0128 a0002c0004t0013g0201 a0002c0004t0013g0202 a0002c0007t0006g0057 a0002c0007t0008g0142 a0002c0007t0024g0056	15	404	0.0371	c.105 others(4): Show c.1055G>A	p.Arg others(6): Show p.Arg352His	ADGRG5	ENSG00000159618.16	transcript	ENST00000349457.8	protein_coding	9/12	1152/3335	1055/1587	352/528	chr16	TogoVar
ADGRG5_chr16_57537643_57582189	57574862	A A	G G	missense_variant missense_variant	MODERATE	NA18945.hp1 NA19080.hp1 NA18945.hp1 NA19080.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0029 a0006c0009t0002g0029	2	404	0.0050	c.125 others(4): Show c.1256A>G	p.Tyr others(6): Show p.Tyr419Cys	ADGRG5	ENSG00000159618.16	transcript	ENST00000349457.8	protein_coding	11/12	1353/3335	1256/1587	419/528	chr16	TogoVar
ADGRG5_chr16_57537643_57582189	57574903	T T	G G	missense_variant missense_variant	MODERATE	NA18989.hp1 NA18989.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0031 a0012c0016t0031	a0012c0016t0031g0087 a0012c0016t0031g0087	1	404	0.0025	c.129 others(4): Show c.1297T>G	p.Trp others(6): Show p.Trp433Gly	ADGRG5	ENSG00000159618.16	transcript	ENST00000349457.8	protein_coding	11/12	1394/3335	1297/1587	433/528	chr16	TogoVar
ADGRG5_chr16_57537643_57582189	57574954	G G	T T	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0005 a0010c0017t0005	a0010c0017t0005g0311 a0010c0017t0005g0311	1	404	0.0025	c.134 others(4): Show c.1348G>T	p.Val others(6): Show p.Val450Phe	ADGRG5	ENSG00000159618.16	transcript	ENST00000349457.8	protein_coding	11/12	1445/3335	1348/1587	450/528	chr16	TogoVar
ADGRG6_chr6_142297007_142451261	142367674	C C	T T	missense_variant missense_variant	MODERATE	HG00621.hp2 HG02809.hp2 NA18906.hp2 others(8): Show HG00621.hp2 HG02809.hp2 NA18906.hp2 NA18942.hp1 NA18959.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18990.hp1 NA19062.hp1 NA19065.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0005 a0005c0006t0001 a0005c0006t0005	a0005c0006t0001g0014 a0005c0006t0001g0028 a0005c0006t0001g0029 others(8): Show a0005c0006t0001g0014 a0005c0006t0001g0028 a0005c0006t0001g0029 a0005c0006t0001g0030 a0005c0006t0001g0219 a0005c0006t0001g0220 a0005c0006t0001g0229 a0005c0006t0001g0230 a0005c0006t0001g0233 a0005c0006t0001g0255 a0005c0006t0005g0251	11	258	0.0426	c.209 others(3): Show c.209C>T	p.Thr others(5): Show p.Thr70Met	ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	3/25	532/6822	209/3753	70/1250	chr6	TogoVar
ADGRG6_chr6_142297007_142451261	142367832	A A	G G	missense_variant missense_variant	MODERATE	HG00741.hp2 HG01070.hp1 HG01071.hp2 others(11): Show HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01361.hp2 HG01496.hp2 HG01993.hp2 HG02300.hp2 HG02698.hp1 NA18946.hp2 NA19065.hp1 NA19083.hp1 NA21309.hp1	a0003 a0006 a0003 a0006	a0003c0004 a0006c0013 a0003c0004 a0006c0013	a0003c0004t0002 a0003c0004t0017 a0006c0013t0002 a0003c0004t0002 a0003c0004t0017 a0006c0013t0002	a0003c0004t0002g0013 a0003c0004t0002g0015 a0003c0004t0002g0016 others(11): Show a0003c0004t0002g0013 a0003c0004t0002g0015 a0003c0004t0002g0016 a0003c0004t0002g0017 a0003c0004t0002g0021 a0003c0004t0002g0022 a0003c0004t0002g0024 a0003c0004t0002g0043 a0003c0004t0002g0046 a0003c0004t0002g0170 a0003c0004t0002g0173 a0003c0004t0002g0195 a0003c0004t0017g0174 a0006c0013t0002g0023	14	258	0.0543	c.367 others(3): Show c.367A>G	p.Ser others(6): Show p.Ser123Gly	ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	3/25	690/6822	367/3753	123/1250	chr6	TogoVar
ADGRG6_chr6_142297007_142451261	142367905	T T	A A	missense_variant missense_variant	MODERATE	HG01243.hp1 HG02258.hp2 HG02559.hp2 others(9): Show HG01243.hp1 HG02258.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02886.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp1 NA20129.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0016 a0004c0005t0001 a0004c0005t0016	a0004c0005t0001g0221 a0004c0005t0001g0222 a0004c0005t0001g0224 others(9): Show a0004c0005t0001g0221 a0004c0005t0001g0222 a0004c0005t0001g0224 a0004c0005t0001g0225 a0004c0005t0001g0226 a0004c0005t0001g0227 a0004c0005t0001g0228 a0004c0005t0001g0231 a0004c0005t0001g0232 a0004c0005t0001g0247 a0004c0005t0001g0253 a0004c0005t0016g0223	12	258	0.0465	c.440 others(3): Show c.440T>A	p.Ile others(6): Show p.Ile147Asn	ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	3/25	763/6822	440/3753	147/1250	chr6	TogoVar
ADGRG6_chr6_142297007_142451261	142370412	A A	C C	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00323.hp1 HG00423.hp1 others(54): Show HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02622.hp1 HG02698.hp1 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03195.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18946.hp2 NA18957.hp2 NA18960.hp2 NA18968.hp1 NA18984.hp2 NA18999.hp2 NA19003.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19062.hp2 NA19065.hp1 NA19083.hp1 NA19084.hp2 NA19086.hp2 NA20129.hp1 NA21309.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0003 a0003c0004 a0006c0013 a0002c0003 a0003c0004 a0006c0013	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(6): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0007 a0002c0003t0008 a0002c0003t0019 a0003c0004t0002 a0003c0004t0017 a0006c0013t0002	a0002c0003t0001g0027 a0002c0003t0001g0183 a0002c0003t0002g0018 others(54): Show a0002c0003t0001g0027 a0002c0003t0001g0183 a0002c0003t0002g0018 a0002c0003t0002g0025 a0002c0003t0002g0026 a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0033 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0038 a0002c0003t0002g0042 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0095 a0002c0003t0002g0096 a0002c0003t0002g0124 a0002c0003t0002g0125 a0002c0003t0002g0158 a0002c0003t0002g0159 a0002c0003t0002g0161 a0002c0003t0002g0162 a0002c0003t0002g0168 a0002c0003t0002g0169 a0002c0003t0002g0171 a0002c0003t0002g0172 a0002c0003t0002g0177 a0002c0003t0002g0178 a0002c0003t0002g0179 a0002c0003t0002g0180 a0002c0003t0002g0181 a0002c0003t0002g0182 a0002c0003t0002g0206 a0002c0003t0002g0215 a0002c0003t0002g0217 a0002c0003t0002g0252 a0002c0003t0002g0254 a0002c0003t0003g0205 a0002c0003t0007g0047 a0002c0003t0007g0049 a0002c0003t0007g0051 a0002c0003t0008g0003 a0002c0003t0019g0079 a0003c0004t0002g0013 a0003c0004t0002g0015 a0003c0004t0002g0016 a0003c0004t0002g0017 a0003c0004t0002g0021 a0003c0004t0002g0022 a0003c0004t0002g0024 a0003c0004t0002g0043 a0003c0004t0002g0046 a0003c0004t0002g0170 a0003c0004t0002g0173 a0003c0004t0002g0195 a0003c0004t0017g0174 a0006c0013t0002g0023	57	258	0.2209	c.688 others(3): Show c.688A>C	p.Lys others(6): Show p.Lys230Gln	ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	4/25	1011/6822	688/3753	230/1250	chr6	TogoVar
ADGRG6_chr6_142297007_142451261	142419954	C C	T T	missense_variant missense_variant	MODERATE	HG01099.hp1 HG01099.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0002 a0006c0013t0002	a0006c0013t0002g0023 a0006c0013t0002g0023	1	258	0.0039	c.316 others(4): Show c.3169C>T	p.Arg others(7): Show p.Arg1057Trp	ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	22/25	3492/6822	3169/3753	1057/1250	chr6	TogoVar
ADGRG6_chr6_142297007_142451261	142443363	T T	C C	missense_variant missense_variant	MODERATE	HG03225.hp1 HG03225.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0004 a0007c0011t0004	a0007c0011t0004g0163 a0007c0011t0004g0163	1	258	0.0039	c.360 others(4): Show c.3601T>C	p.Ser others(7): Show p.Ser1201Pro	ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	25/25	3924/6822	3601/3753	1201/1250	chr6	TogoVar
ADGRG7_chr3_100604601_100700479	100635680	A A	G G	missense_variant missense_variant	MODERATE	HG00597.hp1 HG00741.hp2 HG01071.hp2 others(34): Show HG00597.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01943.hp2 HG02055.hp2 HG02145.hp2 HG02165.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp2 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02922.hp1 HG03195.hp2 HG03239.hp2 HG03486.hp2 HG03654.hp2 HG03834.hp2 NA19043.hp1 NA19055.hp2 NA19077.hp2 NA20805.hp2	a0003 a0007 a0008 a0003 a0007 a0008	a0003c0003 a0007c0016 a0008c0017 a0003c0003 a0007c0016 a0008c0017	a0003c0003t0001 a0003c0003t0003 a0007c0016t0001 others(1): Show a0003c0003t0001 a0003c0003t0003 a0007c0016t0001 a0008c0017t0001	a0003c0003t0001g0009 a0003c0003t0001g0019 a0003c0003t0001g0020 others(33): Show a0003c0003t0001g0009 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0026 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0099 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0243 a0003c0003t0001g0244 a0003c0003t0001g0245 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0003t0003g0025 a0007c0016t0001g0144 a0008c0017t0001g0138	37	338	0.1095	c.451 others(3): Show c.451A>G	p.Lys others(6): Show p.Lys151Glu	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding	5/16	707/3128	451/2394	151/797	chr3	TogoVar
ADGRG7_chr3_100604601_100700479	100635812	A A	G G	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0024 a0010c0015t0001g0024	1	338	0.0030	c.583 others(3): Show c.583A>G	p.Asn others(6): Show p.Asn195Asp	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding	5/16	839/3128	583/2394	195/797	chr3	TogoVar
ADGRG7_chr3_100604601_100700479	100643628	C C	T T	missense_variant missense_variant	MODERATE	NA18995.hp1 NA18995.hp1	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0001 a0012c0014t0001	a0012c0014t0001g0278 a0012c0014t0001g0278	1	338	0.0030	c.941 others(3): Show c.941C>T	p.Thr others(6): Show p.Thr314Met	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding	8/16	1197/3128	941/2394	314/797	chr3	TogoVar
ADGRG7_chr3_100604601_100700479	100646070	G G	A A	missense_variant missense_variant	MODERATE	HG02300.hp1 HG02300.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0144 a0007c0016t0001g0144	1	338	0.0030	c.107 others(4): Show c.1072G>A	p.Asp others(6): Show p.Asp358Asn	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding	9/16	1328/3128	1072/2394	358/797	chr3	TogoVar
ADGRG7_chr3_100604601_100700479	100649702	A A	G G	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00558.hp1 HG00609.hp1 others(72): Show HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG01099.hp1 HG01167.hp2 HG01255.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG01993.hp1 HG02015.hp2 HG02165.hp2 HG02280.hp1 HG02300.hp2 HG02523.hp1 HG02615.hp2 HG02647.hp1 HG02965.hp2 HG03209.hp2 HG03471.hp1 HG03540.hp2 HG03927.hp2 HG04115.hp1 NA18612.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18961.hp1 NA18963.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18983.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA18999.hp2 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19010.hp1 NA19012.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp2	a0002 a0012 a0002 a0012	a0002c0002 a0012c0014 a0002c0002 a0012c0014	a0002c0002t0001 a0012c0014t0001 a0002c0002t0001 a0012c0014t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0013 others(59): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0071 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0012c0014t0001g0278	75	338	0.2219	c.127 others(4): Show c.1274A>G	p.Lys others(6): Show p.Lys425Arg	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding	11/16	1530/3128	1274/2394	425/797	chr3	TogoVar
ADGRG7_chr3_100604601_100700479	100654863	G G	A A	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02559.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0067 a0009c0012t0001g0067	1	338	0.0030	c.140 others(4): Show c.1408G>A	p.Val others(6): Show p.Val470Ile	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding	12/16	1664/3128	1408/2394	470/797	chr3	TogoVar
ADGRG7_chr3_100604601_100700479	100655922	A A	G G	missense_variant missense_variant	MODERATE	HG02523.hp2 HG02523.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0138 a0008c0017t0001g0138	1	338	0.0030	c.175 others(4): Show c.1750A>G	p.Ile others(6): Show p.Ile584Val	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding	13/16	2006/3128	1750/2394	584/797	chr3	TogoVar
ADGRG7_chr3_100604601_100700479	100659797	A A	T T	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02630.hp1 HG03516.hp2 HG02109.hp1 HG02630.hp1 HG03516.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0004 a0006c0007t0004	a0006c0007t0004g0042 a0006c0007t0004g0043 a0006c0007t0004g0044 a0006c0007t0004g0042 a0006c0007t0004g0043 a0006c0007t0004g0044	3	338	0.0089	c.193 others(4): Show c.1933A>T	p.Thr others(6): Show p.Thr645Ser	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding	14/16	2189/3128	1933/2394	645/797	chr3	TogoVar
ADGRG7_chr3_100604601_100700479	100659833	A A	C C	missense_variant missense_variant	MODERATE	NA18970.hp1 NA18970.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0190 a0011c0013t0001g0190	1	338	0.0030	c.196 others(4): Show c.1969A>C	p.Asn others(6): Show p.Asn657His	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding	14/16	2225/3128	1969/2394	657/797	chr3	TogoVar
ADGRG7_chr3_100604601_100700479	100694874	G G	A A	missense_variant missense_variant	MODERATE	HG00735.hp2 HG02109.hp1 HG02486.hp2 others(6): Show HG00735.hp2 HG02109.hp1 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG03041.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp2	a0004 a0006 a0004 a0006	a0004c0004 a0004c0009 a0006c0007 a0004c0004 a0004c0009 a0006c0007	a0004c0004t0002 a0004c0009t0002 a0006c0007t0004 a0004c0004t0002 a0004c0009t0002 a0006c0007t0004	a0004c0004t0002g0022 a0004c0004t0002g0037 a0004c0004t0002g0038 others(6): Show a0004c0004t0002g0022 a0004c0004t0002g0037 a0004c0004t0002g0038 a0004c0004t0002g0040 a0004c0009t0002g0049 a0004c0009t0002g0069 a0006c0007t0004g0042 a0006c0007t0004g0043 a0006c0007t0004g0044	9	338	0.0266	c.226 others(4): Show c.2267G>A	p.Arg others(6): Show p.Arg756His	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding	16/16	2523/3128	2267/2394	756/797	chr3	TogoVar
ADGRG7_chr3_100604601_100700479	100694910	C C	A A	missense_variant missense_variant	MODERATE	HG01975.hp2 HG02970.hp1 HG03098.hp2 others(1): Show HG01975.hp2 HG02970.hp1 HG03098.hp2 NA18522.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0006 a0005c0006t0001g0030 a0005c0006t0001g0031 a0005c0006t0001g0006 a0005c0006t0001g0030 a0005c0006t0001g0031	4	338	0.0118	c.230 others(4): Show c.2303C>A	p.Thr others(6): Show p.Thr768Asn	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding	16/16	2559/3128	2303/2394	768/797	chr3	TogoVar
ADGRG7_chr3_100604601_100700479	100694916	A A	G G	missense_variant missense_variant	MODERATE	HG01975.hp2 HG02970.hp1 HG03098.hp2 others(1): Show HG01975.hp2 HG02970.hp1 HG03098.hp2 NA18522.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0006 a0005c0006t0001g0030 a0005c0006t0001g0031 a0005c0006t0001g0006 a0005c0006t0001g0030 a0005c0006t0001g0031	4	338	0.0118	c.230 others(4): Show c.2309A>G	p.His others(6): Show p.His770Arg	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding	16/16	2565/3128	2309/2394	770/797	chr3	TogoVar
ADGRL1_chr19_14142743_14211169	14150967	C C	T T	missense_variant missense_variant	MODERATE	HG02970.hp2 HG02970.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0019 a0005c0015t0001g0019	1	220	0.0045	c.431 others(4): Show c.4316G>A	p.Arg others(7): Show p.Arg1439Gln	ADGRL1	ENSG00000072071.17	transcript	ENST00000361434.8	protein_coding	23/23	4596/7820	4316/4410	1439/1469	chr19	TogoVar
ADGRL1_chr19_14142743_14211169	14152552	G G	A A	missense_variant missense_variant	MODERATE	HG01928.hp2 HG01928.hp2	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0001 a0003c0025t0001	a0003c0025t0001g0161 a0003c0025t0001g0161	1	220	0.0045	c.348 others(4): Show c.3485C>T	p.Ala others(7): Show p.Ala1162Val	ADGRL1	ENSG00000072071.17	transcript	ENST00000361434.8	protein_coding	20/23	3765/7820	3485/4410	1162/1469	chr19	TogoVar
ADGRL1_chr19_14142743_14211169	14158467	T T	G G	missense_variant missense_variant	MODERATE	HG01175.hp1 HG01257.hp1 HG01258.hp2 others(18): Show HG01175.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01884.hp1 HG01891.hp1 HG01975.hp1 HG01978.hp2 HG02055.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02965.hp2 HG03130.hp1 HG03139.hp1 NA18971.hp2 NA19240.hp1 NA20129.hp1	a0002 a0002	a0002c0004 a0002c0005 a0002c0006 others(2): Show a0002c0004 a0002c0005 a0002c0006 a0002c0010 a0002c0014	a0002c0004t0004 a0002c0004t0016 a0002c0004t0027 others(5): Show a0002c0004t0004 a0002c0004t0016 a0002c0004t0027 a0002c0005t0003 a0002c0005t0007 a0002c0006t0005 a0002c0010t0003 a0002c0014t0009	a0002c0004t0004g0009 a0002c0004t0004g0010 a0002c0004t0004g0011 others(16): Show a0002c0004t0004g0009 a0002c0004t0004g0010 a0002c0004t0004g0011 a0002c0004t0004g0020 a0002c0004t0004g0185 a0002c0004t0016g0060 a0002c0004t0027g0216 a0002c0005t0003g0001 a0002c0005t0007g0131 a0002c0005t0007g0132 a0002c0005t0007g0134 a0002c0006t0005g0116 a0002c0006t0005g0137 a0002c0006t0005g0138 a0002c0006t0005g0139 a0002c0006t0005g0182 a0002c0010t0003g0023 a0002c0010t0003g0194 a0002c0014t0009g0118	21	220	0.0955	c.223 others(4): Show c.2235A>C	p.Glu others(6): Show p.Glu745Asp	ADGRL1	ENSG00000072071.17	transcript	ENST00000361434.8	protein_coding	12/23	2515/7820	2235/4410	745/1469	chr19	TogoVar
ADGRL1_chr19_14142743_14211169	14161564	T T	A A	missense_variant missense_variant	MODERATE	HG02083.hp1 HG02083.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0002 a0004c0017t0002	a0004c0017t0002g0212 a0004c0017t0002g0212	1	220	0.0045	c.125 others(4): Show c.1258A>T	p.Thr others(6): Show p.Thr420Ser	ADGRL1	ENSG00000072071.17	transcript	ENST00000361434.8	protein_coding	6/23	1538/7820	1258/4410	420/1469	chr19	TogoVar

Search by Variant

Search

Search Results