view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GOLGA6L4_chr15_84230773_84250358 | 84240654 | G | T | stop_gained | HIGH | HG01109.hp1 HG01255.hp1 HG01261.hp1 others(9): Show |
a0006a0024a0031others(2): Show | a0006c0014a0006c0024a0006c0025others(4): Show | a0006c0014t0013a0006c0014t0043a0006c0024t0011others(6): Show | a0006c0014t0013g0011 a0006c0014t0043g0011 a0006c0024t0011g0013 others(6): Show |
12 | 250 | 0.0480 | 0 | c.130 others(4): Show |
p.Glu others(4): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1362/4553 | 1300/1725 | 434/574 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20534684 | G | A | stop_gained | HIGH | HG00741.hp1 HG01934.hp2 HG03239.hp1 |
a0015a0029 | a0015c0018a0029c0029 | a0015c0018t0005a0029c0029t0005 | a0015c0018t0005g0026 a0029c0029t0005g0052 |
3 | 212 | 0.0142 | 0 | c.175 others(4): Show |
p.Gln others(4): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1841/4013 | 1750/2175 | 584/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20534688 | C | T | stop_gained | HIGH | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(6): Show |
a0006 | a0006c0005a0006c0019 | a0006c0005t0006a0006c0019t0006 | a0006c0005t0006g0009 a0006c0005t0006g0017 a0006c0005t0006g0030 others(1): Show |
9 | 212 | 0.0425 | 0 | c.174 others(4): Show |
p.Trp others(4): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1837/4013 | 1746/2175 | 582/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20534689 | C | T | stop_gained | HIGH | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(6): Show |
a0006 | a0006c0005a0006c0019 | a0006c0005t0006a0006c0019t0006 | a0006c0005t0006g0009 a0006c0005t0006g0017 a0006c0005t0006g0030 others(1): Show |
9 | 212 | 0.0425 | 0 | c.174 others(4): Show |
p.Trp others(4): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1836/4013 | 1745/2175 | 582/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20534711 | G | A | stop_gained | HIGH | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(6): Show |
a0006 | a0006c0005a0006c0019 | a0006c0005t0006a0006c0019t0006 | a0006c0005t0006g0009 a0006c0005t0006g0017 a0006c0005t0006g0030 others(1): Show |
9 | 212 | 0.0425 | 0 | c.172 others(4): Show |
p.Gln others(4): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1814/4013 | 1723/2175 | 575/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20534752 | C | T | stop_gained | HIGH | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(6): Show |
a0006 | a0006c0005a0006c0019 | a0006c0005t0006a0006c0019t0006 | a0006c0005t0006g0009 a0006c0005t0006g0017 a0006c0005t0006g0030 others(1): Show |
9 | 212 | 0.0425 | 0 | c.168 others(4): Show |
p.Trp others(4): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1773/4013 | 1682/2175 | 561/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20535014 | C | A | stop_gained | HIGH | HG00408.hp1 HG00609.hp1 HG00735.hp1 others(91): Show |
a0001a0007a0010others(10): Show | a0001c0001a0001c0010a0001c0031others(19): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(47): Show |
94 | 212 | 0.4434 | 0 | c.142 others(4): Show |
p.Glu others(4): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1511/4013 | 1420/2175 | 474/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20535092 | C | A | stop_gained | HIGH | HG01071.hp2 HG01255.hp1 HG01257.hp2 others(7): Show |
a0010a0011a0019 | a0010c0014a0010c0015a0011c0012others(2): Show | a0010c0014t0007a0010c0015t0009a0011c0012t0007others(2): Show | a0010c0014t0007g0013 a0010c0015t0009g0037 a0010c0015t0009g0038 others(3): Show |
10 | 212 | 0.0472 | 0 | c.134 others(4): Show |
p.Glu others(4): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1433/4013 | 1342/2175 | 448/724 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20535305 | G | A | stop_gained | HIGH | HG01106.hp1 HG01257.hp1 HG01928.hp1 others(1): Show |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0010 | 4 | 212 | 0.0189 | 0 | c.112 others(4): Show |
p.Gln others(4): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1220/4013 | 1129/2175 | 377/724 | chr15 | TogoVar | |||
GOLGA8A_chr15_34374068_34442808 | 34383776 | C | T | stop_gained | HIGH | HG03834.hp2 | a0035 | a0035c0044 | a0035c0044t0048 | a0035c0044t0048g0200 | 1 | 244 | 0.0041 | 0 | c.732 others(3): Show |
p.Trp others(4): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 18/25 | 2354/5777 | 732/1812 | 244/603 | chr15 | TogoVar | |||
GOLGA8H_chr15_30599028_30622752 | 30607111 | C | T | stop_gained | HIGH | HG01069.hp2 HG01071.hp1 NA20752.hp1 |
a0014 | a0014c0017 | a0014c0017t0004 | a0014c0017t0004g0016 | 3 | 386 | 0.0078 | 0 | c.244 others(3): Show |
p.Arg others(3): Show |
GOLGA8H | ENSG00000261794.2 | transcript | ENST00000566740.2 | protein_coding | 4/19 | 342/5188 | 244/1899 | 82/632 | chr15 | TogoVar | |||
GOLGA8H_chr15_30599028_30622752 | 30610075 | G | A | stop_gained | HIGH | NA19004.hp2 | a0014 | a0014c0040 | a0014c0040t0001 | a0014c0040t0001g0001 | 1 | 386 | 0.0026 | 0 | c.755 others(3): Show |
p.Trp others(4): Show |
GOLGA8H | ENSG00000261794.2 | transcript | ENST00000566740.2 | protein_coding | 10/19 | 853/5188 | 755/1899 | 252/632 | chr15 | TogoVar | |||
GOLGA8N_chr15_32588456_32612237 | 32600735 | C | T | stop_gained | HIGH | HG00280.hp1 HG00558.hp2 HG00735.hp2 others(10): Show |
a0005 | a0005c0005a0005c0061 | a0005c0005t0008a0005c0005t0029a0005c0005t0030others(3): Show | a0005c0005t0008g0006 a0005c0005t0008g0036 a0005c0005t0029g0157 others(4): Show |
13 | 286 | 0.0455 | 0 | c.116 others(4): Show |
p.Gln others(4): Show |
GOLGA8N | ENSG00000232653.9 | transcript | ENST00000448387.7 | protein_coding | 13/19 | 1266/5256 | 1168/1899 | 390/632 | chr15 | TogoVar | |||
GOLGA8O_chr15_32436914_32460634 | 32445679 | A | ATATTAGC others(28): Show |
frameshift_variant others(1): Show |
HIGH | HG02976.hp1 | a0029 | a0029c0051 | a0029c0051t0007 | a0029c0051t0007g0164 | 1 | 214 | 0.0047 | 35 | c.150 others(44): Show |
p.Ala others(5): Show |
GOLGA8O | ENSG00000206127.11 | transcript | ENST00000509311.7 | protein_coding | 17/19 | 1603/5189 | 1505/1899 | 502/632 | chr15 | TogoVar | |||
GOLGA8O_chr15_32436914_32460634 | 32445818 | G | C | stop_gained | HIGH | HG02074.hp1 | a0023 | a0023c0035 | a0023c0035t0003 | a0023c0035t0003g0062 | 1 | 214 | 0.0047 | 0 | c.144 others(4): Show |
p.Tyr others(4): Show |
GOLGA8O | ENSG00000206127.11 | transcript | ENST00000509311.7 | protein_coding | 16/19 | 1547/5189 | 1449/1899 | 483/632 | chr15 | TogoVar | |||
GOLGA8R_chr15_30395562_30419260 | 30406983 | G | A | stop_gained | HIGH | NA18979.hp1 | a0029 | a0029c0041 | a0029c0041t0030 | a0029c0041t0030g0071 | 1 | 184 | 0.0054 | 0 | c.116 others(4): Show |
p.Gln others(4): Show |
GOLGA8R | ENSG00000186399.11 | transcript | ENST00000327271.11 | protein_coding | 13/19 | 1263/5172 | 1165/1896 | 389/631 | chr15 | TogoVar | |||
GOLGA8S_chr15_23349748_23373341 | 23364403 | G | T | stop_gained | HIGH | HG00280.hp1 HG00438.hp1 HG00544.hp1 others(75): Show |
a0002a0012a0016others(17): Show | a0002c0002a0002c0086a0002c0087others(23): Show | a0002c0002t0001a0002c0002t0020a0002c0086t0001others(24): Show | a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0018 others(60): Show |
78 | 428 | 0.1822 | 0 | c.144 others(4): Show |
p.Glu others(4): Show |
GOLGA8S | ENSG00000261739.3 | transcript | ENST00000562295.3 | protein_coding | 16/19 | 1509/5186 | 1447/1917 | 483/638 | chr15 | TogoVar | |||
GOSR2_chr17_46918160_46947020 | 46932182 | C | T | stop_gained | HIGH | NA19068.hp1 | a0007 | a0007c0005 | a0007c0005t0002 | a0007c0005t0002g0003 | 1 | 410 | 0.0024 | 0 | c.319 others(3): Show |
p.Arg others(4): Show |
GOSR2 | ENSG00000108433.17 | transcript | ENST00000640051.2 | protein_coding | 4/6 | 352/3932 | 319/639 | 107/212 | chr17 | TogoVar | |||
GP6_chr19_55008705_55043264 | 55014658 | C | T | stop_gained | HIGH | HG01884.hp2 HG01891.hp1 HG03471.hp1 others(2): Show |
a0008 | a0008c0010 | a0008c0010t0003 | a0008c0010t0003g0295 a0008c0010t0003g0296 a0008c0010t0003g0351 others(2): Show |
5 | 440 | 0.0114 | 0 | c.128 others(4): Show |
p.Trp others(4): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 8/8 | 1315/2268 | 1287/1863 | 429/620 | chr19 | TogoVar | |||
GP6_chr19_55008705_55043264 | 55027621 | G | T | stop_gained | HIGH | HG01255.hp1 | a0015 | a0015c0022 | a0015c0022t0002 | a0015c0022t0002g0399 | 1 | 440 | 0.0023 | 0 | c.567 others(3): Show |
p.Tyr others(4): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 4/8 | 595/2268 | 567/1863 | 189/620 | chr19 | TogoVar | |||
GPANK1_chr6_31656228_31669997 | 31662284 | G | T | stop_gained | HIGH | NA18960.hp1 | a0008 | a0008c0013 | a0008c0013t0016 | a0008c0013t0016g0042 | 1 | 432 | 0.0023 | 0 | c.105 others(4): Show |
p.Tyr others(4): Show |
GPANK1 | ENSG00000204438.11 | transcript | ENST00000375896.9 | protein_coding | 3/3 | 1309/2365 | 1053/1071 | 351/356 | chr6 | TogoVar | |||
GPANK1_chr6_31656228_31669997 | 31662394 | G | A | stop_gained | HIGH | NA19056.hp2 | a0007 | a0007c0015 | a0007c0015t0002 | a0007c0015t0002g0044 | 1 | 432 | 0.0023 | 0 | c.943 others(3): Show |
p.Arg others(4): Show |
GPANK1 | ENSG00000204438.11 | transcript | ENST00000375896.9 | protein_coding | 3/3 | 1199/2365 | 943/1071 | 315/356 | chr6 | TogoVar | |||
GPANK1_chr6_31656228_31669997 | 31664358 | G | A | stop_gained | HIGH | NA19058.hp2 NA19059.hp2 |
a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0039 | 2 | 432 | 0.0046 | 0 | c.121 others(3): Show |
p.Arg others(3): Show |
GPANK1 | ENSG00000204438.11 | transcript | ENST00000375896.9 | protein_coding | 2/3 | 377/2365 | 121/1071 | 41/356 | chr6 | TogoVar | |||
GPBP1_chr5_57169059_57269673 | 57247172 | C | G | stop_gained | HIGH | NA18941.hp2 | a0006 | a0006c0009 | a0006c0009t0004 | a0006c0009t0004g0167 | 1 | 288 | 0.0035 | 0 | c.761 others(3): Show |
p.Ser others(4): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 8/12 | 1924/4506 | 761/1422 | 254/473 | chr5 | TogoVar | |||
GPHA2_chr11_64929471_64940893 | 64935044 | G | A | stop_gained | HIGH | HG00609.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0014 | 1 | 426 | 0.0023 | 0 | c.235 others(3): Show |
p.Arg others(3): Show |
GPHA2 | ENSG00000149735.7 | transcript | ENST00000279168.7 | protein_coding | 3/4 | 295/752 | 235/390 | 79/129 | chr11 | TogoVar | |||
GPR150_chr5_95615087_95627142 | 95621341 | C | T | stop_gained | HIGH | NA20752.hp2 | a0009 | a0009c0012 | a0009c0012t0002 | a0009c0012t0002g0000 | 1 | 446 | 0.0022 | 0 | c.106 others(4): Show |
p.Gln others(4): Show |
GPR150 | ENSG00000178015.5 | transcript | ENST00000380007.3 | protein_coding | 1/1 | 1255/2056 | 1066/1305 | 356/434 | chr5 | TogoVar | |||
GPR151_chr5_146508144_146521190 | 146515817 | G | T | stop_gained | HIGH | HG01192.hp2 HG03942.hp1 |
a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0000 | 2 | 418 | 0.0048 | 0 | c.297 others(3): Show |
p.Tyr others(3): Show |
GPR151 | ENSG00000173250.3 | transcript | ENST00000311104.3 | protein_coding | 1/1 | 374/3047 | 297/1260 | 99/419 | chr5 | TogoVar | |||
GPR155_chr2_174426571_174492029 | 174468963 | A | T | stop_gained | HIGH | HG03942.hp1 | a0004 | a0004c0011 | a0004c0011t0007 | a0004c0011t0007g0157 | 1 | 298 | 0.0034 | 0 | c.113 others(4): Show |
p.Tyr others(4): Show |
GPR155 | ENSG00000163328.14 | transcript | ENST00000392552.7 | protein_coding | 5/16 | 1319/7346 | 1131/2613 | 377/870 | chr2 | TogoVar | |||
GPR15_chr3_98526978_98539681 | 98532678 | C | G | stop_gained | HIGH | NA20129.hp1 | a0008 | a0008c0011 | a0008c0011t0006 | a0008c0011t0006g0000 | 1 | 468 | 0.0021 | 0 | c.645 others(3): Show |
p.Tyr others(4): Show |
GPR15 | ENSG00000154165.5 | transcript | ENST00000284311.5 | protein_coding | 1/1 | 701/2704 | 645/1083 | 215/360 | chr3 | TogoVar | |||
GPR179_chr17_38319571_38348956 | 38328726 | C | A | stop_gained | HIGH | HG02965.hp2 | a0031 | a0031c0050 | a0031c0050t0009 | a0031c0050t0009g0083 | 1 | 338 | 0.0030 | 0 | c.484 others(4): Show |
p.Glu others(5): Show |
GPR179 | ENSG00000277399.6 | transcript | ENST00000616987.5 | protein_coding | 11/11 | 5010/9165 | 4843/7104 | 1615/2367 | chr17 | TogoVar | |||
GPR182_chr12_56989492_57003447 | 56995536 | G | A | stop_gained | HIGH | NA19043.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0002 | 1 | 322 | 0.0031 | 0 | c.327 others(3): Show |
p.Trp others(4): Show |
GPR182 | ENSG00000166856.3 | transcript | ENST00000300098.3 | protein_coding | 2/2 | 500/3411 | 327/1215 | 109/404 | chr12 | TogoVar | |||
GPR33_chr14_31477875_31493039 | 31483548 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(422): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(81): Show |
425 | 446 | 0.9529 | 0 | c.418 others(3): Show |
p.Arg others(4): Show |
GPR33 | ENSG00000214943.5 | transcript | ENST00000399285.5 | protein_coding | 2/2 | 567/1240 | 418/1002 | 140/333 | chr14 | TogoVar | |||
GPR42_chr19_35366068_35377962 | 35371289 | C | CTGCTGGC others(12444): Show |
frameshift_variant others(1): Show |
HIGH | HG02132.hp1 | a0002 | a0002c0031 | a0002c0031t0001 | a0002c0031t0001g0005 | 1 | 341 | 0.0029 | 12451 | c.130 others(12458): Show |
p.Arg others(4): Show |
GPR42 | ENSG00000126251.7 | transcript | ENST00000454971.3 | protein_coding | 2/2 | 193/1665 | 131/1041 | 44/346 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
GPR42_chr19_35366068_35377962 | 35372239 | T | TTGTGTGG others(12450): Show |
frameshift_variant others(1): Show |
HIGH | HG01261.hp2 | a0008 | a0008c0027 | a0008c0027t0001 | a0008c0027t0001g0001 | 1 | 210 | 0.0048 | 12457 | c.103 others(12466): Show |
p.Asn others(5): Show |
GPR42 | ENSG00000126251.7 | transcript | ENST00000454971.3 | protein_coding | 2/2 | 1099/1665 | 1037/1041 | 346/346 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
GPR89B_chr1_147923420_147998592 | 147944065 | G | T | stop_gained | HIGH | HG02735.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0088 | 1 | 272 | 0.0037 | 0 | c.382 others(3): Show |
p.Gly others(4): Show |
GPR89B | ENSG00000188092.15 | transcript | ENST00000314163.12 | protein_coding | 5/14 | 499/2160 | 382/1368 | 128/455 | chr1 | TogoVar | |||
GPRC6A_chr6_116787085_116834083 | 116792598 | A | AGGT | stop_gained others(1): Show |
HIGH | HG00099.hp1 HG00741.hp2 HG01074.hp2 others(57): Show |
a0003a0005a0010others(1): Show | a0003c0003a0005c0005a0005c0015others(3): Show | a0003c0003t0001a0005c0005t0001a0005c0015t0001others(3): Show | a0003c0003t0001g0006 a0003c0003t0001g0008 a0003c0003t0001g0011 others(35): Show |
60 | 366 | 0.1639 | 3 | c.232 others(12): Show |
p.Tyr others(15): Show |
GPRC6A | ENSG00000173612.10 | transcript | ENST00000310357.8 | protein_coding | 6/6 | 2394/2908 | 2324/2781 | 775/926 | chr6 | TogoVar | |||
GPRC6A_chr6_116787085_116834083 | 116828845 | G | A | stop_gained | HIGH | HG00099.hp1 HG01106.hp1 HG01109.hp1 others(22): Show |
a0005 | a0005c0005a0005c0015a0005c0028 | a0005c0005t0001a0005c0015t0001a0005c0028t0001 | a0005c0005t0001g0004 a0005c0005t0001g0050 a0005c0005t0001g0051 others(13): Show |
25 | 366 | 0.0683 | 0 | c.169 others(3): Show |
p.Arg others(3): Show |
GPRC6A | ENSG00000173612.10 | transcript | ENST00000310357.8 | protein_coding | 1/6 | 239/2908 | 169/2781 | 57/926 | chr6 | TogoVar | |||
GPX7_chr1_52597371_52614051 | 52606716 | C | A | stop_gained | HIGH | NA18976.hp2 NA18983.hp1 |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0002 | 2 | 370 | 0.0054 | 0 | c.171 others(3): Show |
p.Cys others(3): Show |
GPX7 | ENSG00000116157.6 | transcript | ENST00000361314.5 | protein_coding | 2/3 | 210/1229 | 171/564 | 57/187 | chr1 | TogoVar | |||
GRIN3B_chr19_995419_1014732 | 1005225 | G | A | stop_gained | HIGH | HG01069.hp1 HG01081.hp2 HG01928.hp1 others(1): Show |
a0003 | a0003c0025a0003c0068 | a0003c0025t0002a0003c0068t0002 | a0003c0025t0002g0006 a0003c0025t0002g0028 a0003c0068t0002g0084 |
4 | 444 | 0.0090 | 0 | c.172 others(4): Show |
p.Trp others(4): Show |
GRIN3B | ENSG00000116032.5 | transcript | ENST00000234389.3 | protein_coding | 3/9 | 1743/3281 | 1724/3132 | 575/1043 | chr19 | TogoVar | |||
GRIN3B_chr19_995419_1014732 | 1009339 | C | T | stop_gained | HIGH | HG02886.hp1 | a0072 | a0072c0124 | a0072c0124t0001 | a0072c0124t0001g0023 | 1 | 444 | 0.0023 | 0 | c.286 others(4): Show |
p.Arg others(4): Show |
GRIN3B | ENSG00000116032.5 | transcript | ENST00000234389.3 | protein_coding | 9/9 | 2888/3281 | 2869/3132 | 957/1043 | chr19 | TogoVar | |||
GRK4_chr4_2958571_3045760 | 3007809 | C | T | stop_gained | HIGH | HG01981.hp1 NA19079.hp1 |
a0012 | a0012c0017 | a0012c0017t0002 | a0012c0017t0002g0042 a0012c0017t0002g0257 |
2 | 266 | 0.0075 | 0 | c.517 others(3): Show |
p.Gln others(4): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 6/16 | 1017/2372 | 517/1737 | 173/578 | chr4 | TogoVar | |||
GRM6_chr5_178973327_179000320 | 178989062 | G | T | stop_gained | HIGH | NA20805.hp2 | a0025 | a0025c0035 | a0025c0035t0001 | a0025c0035t0001g0269 | 1 | 219 | 0.0046 | 0 | c.122 others(4): Show |
p.Tyr others(4): Show |
GRM6 | ENSG00000113262.16 | transcript | ENST00000517717.3 | protein_coding | 7/11 | 1288/6025 | 1227/2634 | 409/877 | chr5 | TogoVar | |||
GSDMB_chr17_39899595_39923635 | 39909893 | G | A | stop_gained | HIGH | HG02683.hp1 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0107 | 1 | 398 | 0.0025 | 0 | c.439 others(3): Show |
p.Arg others(4): Show |
GSDMB | ENSG00000073605.19 | transcript | ENST00000418519.6 | protein_coding | 4/11 | 555/1584 | 439/1251 | 147/416 | chr17 | TogoVar | |||
GSDME_chr7_24693355_24762464 | 24710305 | G | A | stop_gained | HIGH | NA18959.hp2 | a0008 | a0008c0015 | a0008c0015t0012 | a0008c0015t0012g0217 | 1 | 408 | 0.0025 | 0 | c.781 others(3): Show |
p.Arg others(4): Show |
GSDME | ENSG00000105928.16 | transcript | ENST00000645220.1 | protein_coding | 6/10 | 869/2250 | 781/1491 | 261/496 | chr7 | TogoVar | |||
GSG1L2_chr17_9795608_9827079 | 9808880 | A | AACCCAGG others(3): Show |
frameshift_variant others(1): Show |
HIGH | NA18949.hp1 | a0011 | a0011c0019 | a0011c0019t0016 | a0011c0019t0016g0434 | 1 | 472 | 0.0021 | 10 | c.451 others(17): Show |
p.Phe others(5): Show |
GSG1L2 | ENSG00000214978.8 | transcript | ENST00000399363.5 | protein_coding | 3/5 | 468/2668 | 460/882 | 154/293 | chr17 | TogoVar | |||
GSG1_chr12_13078532_13108667 | 13087228 | G | A | stop_gained | HIGH | HG00741.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0248 | 1 | 446 | 0.0022 | 0 | c.670 others(3): Show |
p.Gln others(4): Show |
GSG1 | ENSG00000111305.19 | transcript | ENST00000651961.1 | protein_coding | 6/7 | 825/2613 | 670/1089 | 224/362 | chr12 | TogoVar | |||
GSTM4_chr1_109651099_109666700 | 109658859 | C | T | stop_gained | HIGH | HG00408.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0022 | 1 | 362 | 0.0028 | 0 | c.406 others(3): Show |
p.Gln others(4): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 6/8 | 697/1394 | 406/657 | 136/218 | chr1 | TogoVar | |||
GSTT2B_chr22_23952414_23966195 | 23957872 | G | A | stop_gained | HIGH | HG02056.hp2 HG02135.hp2 NA19012.hp2 |
a0004a0010 | a0004c0006a0010c0007 | a0004c0006t0001a0004c0006t0005a0010c0007t0001 | a0004c0006t0001g0023 a0004c0006t0005g0022 a0010c0007t0001g0017 |
3 | 118 | 0.0254 | 0 | c.586 others(3): Show |
p.Arg others(4): Show |
GSTT2B | ENSG00000133433.11 | transcript | ENST00000290765.9 | protein_coding | 5/5 | 650/1108 | 586/735 | 196/244 | chr22 | TogoVar | |||
GSTT4_chr22_23993401_24010453 | 24000153 | A | C | stop_gained | HIGH | HG02572.hp2 | a0006 | a0006c0007 | a0006c0007t0008 | a0006c0007t0008g0035 | 1 | 160 | 0.0063 | 0 | c.450 others(3): Show |
p.Tyr others(4): Show |
GSTT4 | ENSG00000276950.6 | transcript | ENST00000621179.6 | protein_coding | 4/5 | 547/964 | 450/726 | 150/241 | chr22 | TogoVar | |||
GTF2H2_chr5_71030347_71072676 | 71061283 | G | A | stop_gained | HIGH | HG03139.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0027 | 1 | 78 | 0.0128 | 0 | c.160 others(3): Show |
p.Arg others(3): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 4/16 | 376/1734 | 160/1188 | 54/395 | chr5 | TogoVar |