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
ADRB2_chr5_148821611_148833623	148827391	A A	G G	missense_variant missense_variant	MODERATE	HG00621.hp2 HG00621.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0004 a0006c0018t0004	a0006c0018t0004g0000 a0006c0018t0004g0000	1	452	0.0022	c.560 others(3): Show c.560A>G	p.Asn others(6): Show p.Asn187Ser	ADRB2	ENSG00000169252.6	transcript	ENST00000305988.6	protein_coding	1/1	781/2013	560/1242	187/413	chr5	TogoVar
ADRB2_chr5_148821611_148833623	148827490	C C	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG03098.hp1 HG03098.hp2 others(3): Show HG02257.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG06807.hp1	a0004 a0004	a0004c0008 a0004c0017 a0004c0008 a0004c0017	a0004c0008t0001 a0004c0008t0005 a0004c0017t0001 a0004c0008t0001 a0004c0008t0005 a0004c0017t0001	a0004c0008t0001g0000 a0004c0008t0005g0000 a0004c0017t0001g0000 a0004c0008t0001g0000 a0004c0008t0005g0000 a0004c0017t0001g0000	6	452	0.0133	c.659 others(3): Show c.659C>G	p.Ser others(6): Show p.Ser220Cys	ADRB2	ENSG00000169252.6	transcript	ENST00000305988.6	protein_coding	1/1	880/2013	659/1242	220/413	chr5	TogoVar
ADRB3_chr8_37957990_37971599	37965350	C C	T T	missense_variant missense_variant	MODERATE	NA18967.hp1 NA18967.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0001 a0011c0017t0001	a0011c0017t0001g0030 a0011c0017t0001g0030	1	360	0.0028	c.112 others(4): Show c.1120G>A	p.Ala others(6): Show p.Ala374Thr	ADRB3	ENSG00000188778.6	transcript	ENST00000345060.5	protein_coding	1/2	1250/2585	1120/1227	374/408	chr8	TogoVar
ADRB3_chr8_37957990_37971599	37965413	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02258.hp2 HG02280.hp2 others(5): Show HG01884.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02895.hp1 HG03098.hp2 HG03516.hp1 NA18906.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0006 a0003c0004t0001g0006	8	360	0.0222	c.105 others(4): Show c.1057C>T	p.Arg others(6): Show p.Arg353Cys	ADRB3	ENSG00000188778.6	transcript	ENST00000345060.5	protein_coding	1/2	1187/2585	1057/1227	353/408	chr8	TogoVar
ADRB3_chr8_37957990_37971599	37965437	T T	C C	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02615.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0003 a0008c0010t0003	a0008c0010t0003g0023 a0008c0010t0003g0023	1	360	0.0028	c.103 others(4): Show c.1033A>G	p.Ile others(6): Show p.Ile345Val	ADRB3	ENSG00000188778.6	transcript	ENST00000345060.5	protein_coding	1/2	1163/2585	1033/1227	345/408	chr8	TogoVar
ADRB3_chr8_37957990_37971599	37965667	G G	A A	missense_variant missense_variant	MODERATE	NA18942.hp1 NA18990.hp2 NA18997.hp2 NA18942.hp1 NA18990.hp2 NA18997.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0010 a0004c0005t0002g0010	3	360	0.0083	c.803 others(3): Show c.803C>T	p.Pro others(6): Show p.Pro268Leu	ADRB3	ENSG00000188778.6	transcript	ENST00000345060.5	protein_coding	1/2	933/2585	803/1227	268/408	chr8	TogoVar
ADRB3_chr8_37957990_37971599	37965676	G G	A A	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02615.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0003 a0008c0010t0003	a0008c0010t0003g0023 a0008c0010t0003g0023	1	358	0.0028	c.794 others(3): Show c.794C>T	p.Thr others(6): Show p.Thr265Met	ADRB3	ENSG00000188778.6	transcript	ENST00000345060.5	protein_coding	1/2	924/2585	794/1227	265/408	chr8	TogoVar
ADRB3_chr8_37957990_37971599	37965676	G G	C C	missense_variant missense_variant	MODERATE	NA18981.hp2 NA18983.hp1 NA18981.hp2 NA18983.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0016 a0005c0007t0002g0016	2	359	0.0056	c.794 others(3): Show c.794C>G	p.Thr others(6): Show p.Thr265Arg	ADRB3	ENSG00000188778.6	transcript	ENST00000345060.5	protein_coding	1/2	924/2585	794/1227	265/408	chr8	TogoVar
ADRB3_chr8_37957990_37971599	37965863	G G	T T	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02258.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0028 a0007c0015t0001g0028	1	360	0.0028	c.607 others(3): Show c.607C>A	p.Pro others(6): Show p.Pro203Thr	ADRB3	ENSG00000188778.6	transcript	ENST00000345060.5	protein_coding	1/2	737/2585	607/1227	203/408	chr8	TogoVar
ADRB3_chr8_37957990_37971599	37965864	C C	T T	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02258.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0028 a0007c0015t0001g0028	1	360	0.0028	c.606 others(3): Show c.606G>A	p.Met others(6): Show p.Met202Ile	ADRB3	ENSG00000188778.6	transcript	ENST00000345060.5	protein_coding	1/2	736/2585	606/1227	202/408	chr8	TogoVar
ADRB3_chr8_37957990_37971599	37965900	G G	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0001 a0009c0019t0001	a0009c0019t0001g0034 a0009c0019t0001g0034	1	360	0.0028	c.570 others(3): Show c.570C>G	p.His others(6): Show p.His190Gln	ADRB3	ENSG00000188778.6	transcript	ENST00000345060.5	protein_coding	1/2	700/2585	570/1227	190/408	chr8	TogoVar
ADRB3_chr8_37957990_37971599	37965913	G G	T T	missense_variant missense_variant	MODERATE	HG01517.hp2 HG01517.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0027 a0006c0014t0001g0027	1	360	0.0028	c.557 others(3): Show c.557C>A	p.Ala others(6): Show p.Ala186Glu	ADRB3	ENSG00000188778.6	transcript	ENST00000345060.5	protein_coding	1/2	687/2585	557/1227	186/408	chr8	TogoVar
ADRB3_chr8_37957990_37971599	37966009	G G	T T	missense_variant missense_variant	MODERATE	NA18906.hp1 NA18906.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0004 a0010c0013t0004	a0010c0013t0004g0026 a0010c0013t0004g0026	1	360	0.0028	c.461 others(3): Show c.461C>A	p.Ala others(6): Show p.Ala154Asp	ADRB3	ENSG00000188778.6	transcript	ENST00000345060.5	protein_coding	1/2	591/2585	461/1227	154/408	chr8	TogoVar
ADRB3_chr8_37957990_37971599	37966177	G G	A A	missense_variant missense_variant	MODERATE	NA21309.hp1 NA21309.hp1	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0003 a0013c0012t0003	a0013c0012t0003g0025 a0013c0012t0003g0025	1	360	0.0028	c.293 others(3): Show c.293C>T	p.Ala others(5): Show p.Ala98Val	ADRB3	ENSG00000188778.6	transcript	ENST00000345060.5	protein_coding	1/2	423/2585	293/1227	98/408	chr8	TogoVar
ADRB3_chr8_37957990_37971599	37966280	A A	G G	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00558.hp1 HG01106.hp1 others(58): Show HG00323.hp1 HG00558.hp1 HG01106.hp1 HG01361.hp1 HG01975.hp1 HG02080.hp2 HG02135.hp2 HG02148.hp1 HG02273.hp2 HG02293.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03017.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp2 HG04228.hp1 NA18747.hp2 NA18942.hp1 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18966.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18990.hp2 NA18997.hp2 NA19000.hp1 NA19001.hp1 NA19010.hp2 NA19011.hp2 NA19055.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19074.hp1 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19082.hp2 NA19083.hp2 NA19088.hp1 NA19240.hp1 NA20905.hp1 NA21309.hp1	a0002 a0004 a0005 others(3): Show a0002 a0004 a0005 a0008 a0012 a0013	a0002c0002 a0002c0009 a0002c0011 others(5): Show a0002c0002 a0002c0009 a0002c0011 a0004c0005 a0005c0007 a0008c0010 a0012c0008 a0013c0012	a0002c0002t0002 a0002c0002t0003 a0002c0009t0002 others(6): Show a0002c0002t0002 a0002c0002t0003 a0002c0009t0002 a0002c0011t0002 a0004c0005t0002 a0005c0007t0002 a0008c0010t0003 a0012c0008t0003 a0013c0012t0003	a0002c0002t0002g0002 a0002c0002t0002g0015 a0002c0002t0003g0003 others(8): Show a0002c0002t0002g0002 a0002c0002t0002g0015 a0002c0002t0003g0003 a0002c0002t0003g0022 a0002c0009t0002g0021 a0002c0011t0002g0024 a0004c0005t0002g0010 a0005c0007t0002g0016 a0008c0010t0003g0023 a0012c0008t0003g0020 a0013c0012t0003g0025	61	360	0.1694	c.190 others(3): Show c.190T>C	p.Trp others(5): Show p.Trp64Arg	ADRB3	ENSG00000188778.6	transcript	ENST00000345060.5	protein_coding	1/2	320/2585	190/1227	64/408	chr8	TogoVar
ADRB3_chr8_37957990_37971599	37966458	C C	G G	missense_variant missense_variant	MODERATE	NA19065.hp1 NA19065.hp1	a0012 a0012	a0012c0008 a0012c0008	a0012c0008t0003 a0012c0008t0003	a0012c0008t0003g0020 a0012c0008t0003g0020	1	360	0.0028	c.12G others(2): Show c.12G>C	p.Trp others(4): Show p.Trp4Cys	ADRB3	ENSG00000188778.6	transcript	ENST00000345060.5	protein_coding	1/2	142/2585	12/1227	4/408	chr8	TogoVar
ADRM1_chr20_62297997_62313862	62303627	A A	G G	missense_variant missense_variant	MODERATE	HG00733.hp1 HG01069.hp2 HG01071.hp2 others(3): Show HG00733.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG02056.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0005 a0002c0005t0001g0005	6	366	0.0164	c.59A others(2): Show c.59A>G	p.Asn others(5): Show p.Asn20Ser	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding	2/10	113/1379	59/1224	20/407	chr20	TogoVar
ADRM1_chr20_62297997_62313862	62303727	C C	G G	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02572.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0001 a0005c0018t0001	a0005c0018t0001g0026 a0005c0018t0001g0026	1	366	0.0027	c.159 others(3): Show c.159C>G	p.Asp others(5): Show p.Asp53Glu	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding	2/10	213/1379	159/1224	53/407	chr20	TogoVar
ADRM1_chr20_62297997_62313862	62307691	C C	A A	missense_variant missense_variant	MODERATE	HG00323.hp1 HG01358.hp2 HG00323.hp1 HG01358.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0059 a0003c0008t0001g0060 a0003c0008t0001g0059 a0003c0008t0001g0060	2	366	0.0055	c.719 others(3): Show c.719C>A	p.Thr others(6): Show p.Thr240Asn	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding	7/10	773/1379	719/1224	240/407	chr20	TogoVar
ADRM1_chr20_62297997_62313862	62307733	C C	G G	missense_variant missense_variant	MODERATE	HG02015.hp2 HG02015.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0001 a0004c0015t0001g0001	1	366	0.0027	c.761 others(3): Show c.761C>G	p.Thr others(6): Show p.Thr254Arg	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding	7/10	815/1379	761/1224	254/407	chr20	TogoVar
ADRM1_chr20_62297997_62313862	62308135	C C	T T	missense_variant missense_variant	MODERATE	HG03927.hp2 HG03927.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0012 a0007c0014t0001g0012	1	366	0.0027	c.971 others(3): Show c.971C>T	p.Ala others(6): Show p.Ala324Val	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding	8/10	1025/1379	971/1224	324/407	chr20	TogoVar
ADRM1_chr20_62297997_62313862	62308706	A A	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0001 a0006c0013t0001g0001	1	366	0.0027	c.116 others(4): Show c.1169A>C	p.Lys others(6): Show p.Lys390Thr	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding	10/10	1223/1379	1169/1224	390/407	chr20	TogoVar
ADRM1_chr20_62297997_62313862	62308735	G G	A A	missense_variant missense_variant	MODERATE	NA19004.hp2 NA19004.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0006 a0008c0012t0001g0006	1	366	0.0027	c.119 others(4): Show c.1198G>A	p.Glu others(6): Show p.Glu400Lys	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding	10/10	1252/1379	1198/1224	400/407	chr20	TogoVar
ADSL_chr22_40341500_40374367	40354285	A A	T T	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02622.hp2 HG02809.hp1 others(3): Show HG02559.hp1 HG02622.hp2 HG02809.hp1 HG02818.hp1 HG03225.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0062 a0002c0002t0001g0010 a0002c0002t0001g0062	6	300	0.0200	c.440 others(3): Show c.440A>T	p.Lys others(6): Show p.Lys147Met	ADSL	ENSG00000239900.14	transcript	ENST00000623063.3	protein_coding	4/13	499/4359	440/1455	147/484	chr22	TogoVar
ADSS1_chr14_104719229_104752310	104741928	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02922.hp1 HG03041.hp1 others(1): Show HG02630.hp2 HG02922.hp1 HG03041.hp1 NA18522.hp2	a0002 a0002	a0002c0005 a0002c0006 a0002c0005 a0002c0006	a0002c0005t0001 a0002c0006t0001 a0002c0005t0001 a0002c0006t0001	a0002c0005t0001g0042 a0002c0006t0001g0243 a0002c0006t0001g0244 a0002c0005t0001g0042 a0002c0006t0001g0243 a0002c0006t0001g0244	4	400	0.0100	c.874 others(3): Show c.874G>A	p.Gly others(6): Show p.Gly292Ser	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	9/13	916/1723	874/1374	292/457	chr14	TogoVar
ADSS1_chr14_104719229_104752310	104743104	G G	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0113 a0003c0007t0001g0128 a0003c0007t0001g0113 a0003c0007t0001g0128	2	400	0.0050	c.986 others(3): Show c.986G>C	p.Trp others(6): Show p.Trp329Ser	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	10/13	1028/1723	986/1374	329/457	chr14	TogoVar
ADSS1_chr14_104719229_104752310	104743191	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02615.hp1 HG02615.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0155 a0005c0012t0001g0155	1	400	0.0025	c.107 others(4): Show c.1073C>T	p.Ala others(6): Show p.Ala358Val	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	10/13	1115/1723	1073/1374	358/457	chr14	TogoVar
ADSS1_chr14_104719229_104752310	104744816	G G	C C	missense_variant missense_variant	MODERATE	NA18982.hp1 NA18982.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0096 a0007c0009t0001g0096	1	399	0.0025	c.107 others(4): Show c.1078G>C	p.Ala others(6): Show p.Ala360Pro	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	11/13	1120/1723	1078/1374	360/457	chr14	TogoVar
ADSS1_chr14_104719229_104752310	104744817	C C	A A	missense_variant missense_variant	MODERATE	NA18982.hp1 NA18982.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0096 a0007c0009t0001g0096	1	400	0.0025	c.107 others(4): Show c.1079C>A	p.Ala others(6): Show p.Ala360Asp	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	11/13	1121/1723	1079/1374	360/457	chr14	TogoVar
ADSS1_chr14_104719229_104752310	104744822	A A	C C	missense_variant missense_variant	MODERATE	NA18982.hp1 NA18982.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0096 a0007c0009t0001g0096	1	400	0.0025	c.108 others(4): Show c.1084A>C	p.Thr others(6): Show p.Thr362Pro	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	11/13	1126/1723	1084/1374	362/457	chr14	TogoVar
ADSS1_chr14_104719229_104752310	104744826	A A	G G	missense_variant missense_variant	MODERATE	NA18982.hp1 NA18982.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0096 a0007c0009t0001g0096	1	400	0.0025	c.108 others(4): Show c.1088A>G	p.Lys others(6): Show p.Lys363Arg	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	11/13	1130/1723	1088/1374	363/457	chr14	TogoVar
ADSS1_chr14_104719229_104752310	104744827	G G	T T	missense_variant missense_variant	MODERATE	NA18982.hp1 NA18982.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0096 a0007c0009t0001g0096	1	400	0.0025	c.108 others(4): Show c.1089G>T	p.Lys others(6): Show p.Lys363Asn	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	11/13	1131/1723	1089/1374	363/457	chr14	TogoVar
ADSS1_chr14_104719229_104752310	104744841	A A	C C	missense_variant missense_variant	MODERATE	NA18982.hp1 NA18982.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0096 a0007c0009t0001g0096	1	400	0.0025	c.110 others(4): Show c.1103A>C	p.Asp others(6): Show p.Asp368Ala	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	11/13	1145/1723	1103/1374	368/457	chr14	TogoVar
ADSS1_chr14_104719229_104752310	104744843	G G	A A	missense_variant missense_variant	MODERATE	NA18982.hp1 NA18982.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0096 a0007c0009t0001g0096	1	400	0.0025	c.110 others(4): Show c.1105G>A	p.Val others(6): Show p.Val369Ile	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	11/13	1147/1723	1105/1374	369/457	chr14	TogoVar
ADSS1_chr14_104719229_104752310	104744844	T T	A A	missense_variant missense_variant	MODERATE	NA18982.hp1 NA18982.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0096 a0007c0009t0001g0096	1	400	0.0025	c.110 others(4): Show c.1106T>A	p.Val others(6): Show p.Val369Glu	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	11/13	1148/1723	1106/1374	369/457	chr14	TogoVar
ADSS1_chr14_104719229_104752310	104746370	C C	G G	missense_variant missense_variant	MODERATE	HG00609.hp2 HG00609.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0020 a0004c0011t0001g0020	1	400	0.0025	c.130 others(4): Show c.1306C>G	p.His others(6): Show p.His436Asp	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	12/13	1348/1723	1306/1374	436/457	chr14	TogoVar
ADSS1_chr14_104719229_104752310	104746984	C C	T T	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03491.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0005 a0006c0010t0002g0005	1	400	0.0025	c.135 others(4): Show c.1355C>T	p.Ser others(6): Show p.Ser452Leu	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	13/13	1397/1723	1355/1374	452/457	chr14	TogoVar
ADSS2_chr1_244403494_244456909	244420283	T T	C C	missense_variant missense_variant	MODERATE	HG01074.hp2 HG03710.hp2 HG01074.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0033 a0002c0002t0003g0033	2	406	0.0049	c.677 others(3): Show c.677A>G	p.Lys others(6): Show p.Lys226Arg	ADSS2	ENSG00000035687.10	transcript	ENST00000366535.4	protein_coding	8/13	769/2555	677/1371	226/456	chr1	TogoVar
ADTRP_chr6_11708523_11783803	11723403	C C	T T	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00408.hp2 HG00423.hp2 others(74): Show HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00621.hp2 HG00673.hp1 HG01175.hp2 HG02015.hp2 HG02071.hp2 HG02074.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02896.hp1 HG03453.hp2 HG03490.hp2 HG03579.hp1 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18991.hp1 NA18995.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19054.hp1 NA19056.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19070.hp2 NA19075.hp1 NA19076.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0003 a0002c0002t0009 a0002c0002t0011 others(1): Show a0002c0002t0003 a0002c0002t0009 a0002c0002t0011 a0005c0005t0003	a0002c0002t0003g0010 a0002c0002t0003g0029 a0002c0002t0003g0039 others(73): Show a0002c0002t0003g0010 a0002c0002t0003g0029 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0073 a0002c0002t0003g0074 a0002c0002t0003g0076 a0002c0002t0003g0077 a0002c0002t0003g0085 a0002c0002t0003g0089 a0002c0002t0003g0090 a0002c0002t0003g0093 a0002c0002t0003g0118 a0002c0002t0003g0136 a0002c0002t0003g0149 a0002c0002t0003g0150 a0002c0002t0003g0152 a0002c0002t0003g0158 a0002c0002t0003g0166 a0002c0002t0003g0174 a0002c0002t0003g0185 a0002c0002t0003g0187 a0002c0002t0003g0193 a0002c0002t0003g0206 a0002c0002t0003g0209 a0002c0002t0003g0221 a0002c0002t0003g0224 a0002c0002t0003g0225 a0002c0002t0003g0226 a0002c0002t0003g0230 a0002c0002t0003g0264 a0002c0002t0003g0265 a0002c0002t0003g0267 a0002c0002t0003g0283 a0002c0002t0003g0285 a0002c0002t0003g0286 a0002c0002t0003g0287 a0002c0002t0003g0289 a0002c0002t0003g0291 a0002c0002t0003g0292 a0002c0002t0003g0293 a0002c0002t0003g0294 a0002c0002t0003g0295 a0002c0002t0003g0296 a0002c0002t0003g0297 a0002c0002t0003g0298 a0002c0002t0003g0299 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0302 a0002c0002t0003g0306 a0002c0002t0003g0315 a0002c0002t0003g0320 a0002c0002t0003g0328 a0002c0002t0003g0329 a0002c0002t0003g0332 a0002c0002t0003g0354 a0002c0002t0003g0360 a0002c0002t0003g0361 a0002c0002t0003g0370 a0002c0002t0003g0371 a0002c0002t0003g0375 a0002c0002t0003g0376 a0002c0002t0003g0388 a0002c0002t0009g0220 a0002c0002t0011g0048 a0005c0005t0003g0157	77	408	0.1887	c.604 others(3): Show c.604G>A	p.Val others(6): Show p.Val202Ile	ADTRP	ENSG00000111863.13	transcript	ENST00000414691.8	protein_coding	5/6	648/1692	604/693	202/230	chr6	TogoVar
ADTRP_chr6_11708523_11783803	11735578	A A	C C	missense_variant missense_variant	MODERATE	HG04228.hp1 HG04228.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0157 a0005c0005t0003g0157	1	408	0.0025	c.496 others(3): Show c.496T>G	p.Tyr others(6): Show p.Tyr166Asp	ADTRP	ENSG00000111863.13	transcript	ENST00000414691.8	protein_coding	4/6	540/1692	496/693	166/230	chr6	TogoVar
ADTRP_chr6_11708523_11783803	11766294	C C	T T	missense_variant missense_variant	MODERATE	HG02015.hp1 HG02080.hp1 HG02129.hp2 HG02015.hp1 HG02080.hp1 HG02129.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0014 a0004c0004t0002g0309 a0004c0004t0002g0014 a0004c0004t0002g0309	3	408	0.0074	c.370 others(3): Show c.370G>A	p.Val others(6): Show p.Val124Met	ADTRP	ENSG00000111863.13	transcript	ENST00000414691.8	protein_coding	3/6	414/1692	370/693	124/230	chr6	TogoVar
ADTRP_chr6_11708523_11783803	11766374	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01109.hp2 HG01496.hp1 HG02055.hp1 others(5): Show HG01109.hp2 HG01496.hp1 HG02055.hp1 HG02258.hp1 HG02559.hp1 HG02895.hp1 HG03098.hp2 HG03130.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0169 a0003c0003t0002g0207 a0003c0003t0002g0222 others(5): Show a0003c0003t0002g0169 a0003c0003t0002g0207 a0003c0003t0002g0222 a0003c0003t0002g0331 a0003c0003t0002g0346 a0003c0003t0002g0347 a0003c0003t0002g0348 a0003c0003t0002g0350	8	408	0.0196	c.290 others(3): Show c.290T>A	p.Phe others(5): Show p.Phe97Tyr	ADTRP	ENSG00000111863.13	transcript	ENST00000414691.8	protein_coding	3/6	334/1692	290/693	97/230	chr6	TogoVar
AEBP1_chr7_44099345_44119560	44104685	C C	A A	missense_variant missense_variant	MODERATE	HG02015.hp2 HG03491.hp1 HG03492.hp2 others(11): Show HG02015.hp2 HG03491.hp1 HG03492.hp2 NA18943.hp2 NA18964.hp1 NA18970.hp2 NA18983.hp1 NA18984.hp1 NA19055.hp1 NA19062.hp2 NA19064.hp1 NA19070.hp1 NA19082.hp2 NA19083.hp2	a0005 a0009 a0014 a0005 a0009 a0014	a0005c0008 a0009c0015 a0014c0016 a0005c0008 a0009c0015 a0014c0016	a0005c0008t0001 a0009c0015t0001 a0014c0016t0001 a0005c0008t0001 a0009c0015t0001 a0014c0016t0001	a0005c0008t0001g0005 a0005c0008t0001g0006 a0005c0008t0001g0029 others(2): Show a0005c0008t0001g0005 a0005c0008t0001g0006 a0005c0008t0001g0029 a0009c0015t0001g0006 a0014c0016t0001g0042	14	424	0.0330	c.20C others(2): Show c.20C>A	p.Ala others(4): Show p.Ala7Glu	AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	1/21	341/4097	20/3477	7/1158	chr7	TogoVar
AEBP1_chr7_44099345_44119560	44104811	C C	A A	missense_variant missense_variant	MODERATE	HG02015.hp2 HG02015.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0006 a0009c0015t0001g0006	1	424	0.0024	c.146 others(3): Show c.146C>A	p.Pro others(5): Show p.Pro49His	AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	1/21	467/4097	146/3477	49/1158	chr7	TogoVar
AEBP1_chr7_44099345_44119560	44107886	C C	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00280.hp2 HG00438.hp2 others(118): Show HG00099.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18942.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18960.hp2 NA18961.hp2 NA18966.hp2 NA18973.hp2 NA18974.hp1 NA18987.hp2 NA18988.hp1 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19059.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19083.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0003 a0004 a0011 others(1): Show a0003 a0004 a0011 a0013	a0003c0002 a0003c0012 a0004c0007 others(3): Show a0003c0002 a0003c0012 a0004c0007 a0004c0011 a0011c0018 a0013c0017	a0003c0002t0001 a0003c0002t0004 a0003c0002t0005 others(5): Show a0003c0002t0001 a0003c0002t0004 a0003c0002t0005 a0003c0012t0001 a0004c0007t0001 a0004c0011t0001 a0011c0018t0001 a0013c0017t0001	a0003c0002t0001g0002 a0003c0002t0001g0011 a0003c0002t0001g0021 others(16): Show a0003c0002t0001g0002 a0003c0002t0001g0011 a0003c0002t0001g0021 a0003c0002t0001g0031 a0003c0002t0001g0054 a0003c0002t0001g0055 a0003c0002t0001g0057 a0003c0002t0001g0058 a0003c0002t0001g0059 a0003c0002t0004g0002 a0003c0002t0005g0002 a0003c0012t0001g0011 a0004c0007t0001g0007 a0004c0007t0001g0012 a0004c0007t0001g0027 a0004c0007t0001g0034 a0004c0011t0001g0022 a0011c0018t0001g0002 a0013c0017t0001g0002	121	424	0.2854	c.817 others(3): Show c.817C>A	p.Pro others(6): Show p.Pro273Thr	AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	5/21	1138/4097	817/3477	273/1158	chr7	TogoVar
AEBP1_chr7_44099345_44119560	44109294	G G	A A	missense_variant missense_variant	MODERATE	NA18986.hp1 NA19005.hp1 NA18986.hp1 NA19005.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0001 a0008c0013t0001g0001	2	424	0.0047	c.110 others(4): Show c.1103G>A	p.Arg others(6): Show p.Arg368Gln	AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	9/21	1424/4097	1103/3477	368/1158	chr7	TogoVar
AEBP1_chr7_44099345_44119560	44110276	A A	T T	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02895.hp1 HG02895.hp2 others(4): Show HG02258.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03130.hp2 HG03195.hp1 HG03516.hp1	a0006 a0010 a0006 a0010	a0006c0009 a0010c0024 a0006c0009 a0010c0024	a0006c0009t0001 a0006c0009t0003 a0010c0024t0003 a0006c0009t0001 a0006c0009t0003 a0010c0024t0003	a0006c0009t0001g0016 a0006c0009t0001g0038 a0006c0009t0003g0030 others(1): Show a0006c0009t0001g0016 a0006c0009t0001g0038 a0006c0009t0003g0030 a0010c0024t0003g0030	7	424	0.0165	c.133 others(4): Show c.1330A>T	p.Ile others(6): Show p.Ile444Leu	AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	11/21	1651/4097	1330/3477	444/1158	chr7	TogoVar
AEBP1_chr7_44099345_44119560	44110729	G G	A A	missense_variant missense_variant	MODERATE	HG03195.hp1 HG03195.hp1	a0010 a0010	a0010c0024 a0010c0024	a0010c0024t0003 a0010c0024t0003	a0010c0024t0003g0030 a0010c0024t0003g0030	1	424	0.0024	c.140 others(4): Show c.1405G>A	p.Asp others(6): Show p.Asp469Asn	AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	12/21	1726/4097	1405/3477	469/1158	chr7	TogoVar
AEBP1_chr7_44099345_44119560	44111156	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19060.hp1 NA19060.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0001 a0013c0017t0001	a0013c0017t0001g0002 a0013c0017t0001g0002	1	424	0.0024	c.163 others(4): Show c.1633G>A	p.Val others(6): Show p.Val545Ile	AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	14/21	1954/4097	1633/3477	545/1158	chr7	TogoVar
AEBP1_chr7_44099345_44119560	44113771	T T	C C	missense_variant missense_variant	MODERATE	HG03710.hp1 HG03710.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0001 a0012c0021t0001	a0012c0021t0001g0001 a0012c0021t0001g0001	1	424	0.0024	c.298 others(4): Show c.2987T>C	p.Met others(6): Show p.Met996Thr	AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	21/21	3308/4097	2987/3477	996/1158	chr7	TogoVar

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