NCI-TCGA novel | p.Asp2Asn | missense variant | - | NC_000009.12:g.97983559G>A | NCI-TCGA |
rs1277307714 | p.Met3Val | missense variant | - | NC_000009.12:g.97983562A>G | gnomAD |
rs1440265144 | p.Lys4Asn | missense variant | - | NC_000009.12:g.97983567G>C | TOPMed,gnomAD |
rs1211785897 | p.Arg5Trp | missense variant | - | NC_000009.12:g.97983568A>T | gnomAD |
rs1246417199 | p.Arg6Lys | missense variant | - | NC_000009.12:g.97983572G>A | TOPMed |
rs1237744954 | p.Ile7Thr | missense variant | - | NC_000009.12:g.97983575T>C | gnomAD |
rs866406709 | p.Leu9Met | missense variant | - | NC_000009.12:g.97983580C>A | gnomAD |
rs1443098778 | p.Glu10Lys | missense variant | - | NC_000009.12:g.97983583G>A | TOPMed |
rs1382043461 | p.Glu10Val | missense variant | - | NC_000009.12:g.97983584A>T | gnomAD |
rs1017983718 | p.Thr15Ala | missense variant | - | NC_000009.12:g.97983598A>G | TOPMed,gnomAD |
rs374378445 | p.Thr15Ile | missense variant | - | NC_000009.12:g.97983599C>T | ESP,ExAC,TOPMed,gnomAD |
rs866732118 | p.Pro16Leu | missense variant | - | NC_000009.12:g.97983602C>T | gnomAD |
rs866732118 | p.Pro16Gln | missense variant | - | NC_000009.12:g.97983602C>A | gnomAD |
rs1276585548 | p.Ala17Glu | missense variant | - | NC_000009.12:g.97983605C>A | TOPMed |
rs1234200164 | p.Ala18Gly | missense variant | - | NC_000009.12:g.97983608C>G | gnomAD |
rs1234200164 | p.Ala18Asp | missense variant | - | NC_000009.12:g.97983608C>A | gnomAD |
rs776354657 | p.Arg20Gln | missense variant | - | NC_000009.12:g.97994635G>A | ExAC,gnomAD |
COSM3432694 | p.Arg20Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000009.12:g.97994634C>T | NCI-TCGA Cosmic |
COSM752335 | p.Ser29Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000009.12:g.97994662C>G | NCI-TCGA Cosmic |
COSM1314305 | p.Asn30Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.97994665A>T | NCI-TCGA Cosmic |
rs142118802 | p.Lys33Asn | missense variant | - | NC_000009.12:g.97994675A>C | ESP,ExAC |
rs376602943 | p.Ile34Thr | missense variant | - | NC_000009.12:g.97994677T>C | ESP,TOPMed,gnomAD |
rs1469384005 | p.Ala39Thr | missense variant | - | NC_000009.12:g.97994691G>A | gnomAD |
rs1358288838 | p.Ala39Asp | missense variant | - | NC_000009.12:g.97994692C>A | gnomAD |
rs1218929127 | p.Glu45Asp | missense variant | - | NC_000009.12:g.97994711G>T | gnomAD |
rs767568260 | p.Leu47Pro | missense variant | - | NC_000009.12:g.97994716T>C | ExAC,gnomAD |
rs973099581 | p.Ser48Gly | missense variant | - | NC_000009.12:g.97994718A>G | TOPMed |
rs756222170 | p.Val52Ile | missense variant | - | NC_000009.12:g.97994730G>A | ExAC,gnomAD |
COSM1464343 | p.Leu60Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.97994755T>G | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Leu60Ile | missense variant | - | NC_000009.12:g.97994754C>A | NCI-TCGA |
COSM3835257 | p.Lys62Met | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.97994761A>T | NCI-TCGA Cosmic |
rs1473362999 | p.Leu63Met | missense variant | - | NC_000009.12:g.97994763C>A | gnomAD |
rs764181693 | p.Pro64His | missense variant | - | NC_000009.12:g.97994767C>A | ExAC,gnomAD |
COSM1103077 | p.Lys68Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.97994778A>C | NCI-TCGA Cosmic |
rs138669342 | p.Leu71Phe | missense variant | - | NC_000009.12:g.97998562C>T | ESP,ExAC,TOPMed,gnomAD |
rs1311655242 | p.Ser72Gly | missense variant | - | NC_000009.12:g.97998565A>G | gnomAD |
NCI-TCGA novel | p.Gly78Glu | missense variant | - | NC_000009.12:g.97998584G>A | NCI-TCGA |
rs991523817 | p.Gly79Ser | missense variant | - | NC_000009.12:g.97998586G>A | gnomAD |
rs1231206458 | p.Gly79Val | missense variant | - | NC_000009.12:g.97998587G>T | gnomAD |
rs1324561783 | p.Leu80Met | missense variant | - | NC_000009.12:g.97998589C>A | gnomAD |
rs1178261907 | p.Ala84Val | missense variant | - | NC_000009.12:g.97998602C>T | gnomAD |
rs753976201 | p.Ala84Thr | missense variant | - | NC_000009.12:g.97998601G>A | ExAC,gnomAD |
rs757567396 | p.Glu85Gly | missense variant | - | NC_000009.12:g.97998605A>G | ExAC,gnomAD |
rs765686344 | p.Leu87Pro | missense variant | - | NC_000009.12:g.97998611T>C | ExAC,gnomAD |
rs750761331 | p.Pro88Leu | missense variant | - | NC_000009.12:g.97998614C>T | ExAC,gnomAD |
rs1378945982 | p.Asn89Tyr | missense variant | - | NC_000009.12:g.97998616A>T | gnomAD |
rs1272322942 | p.Thr91Ile | missense variant | - | NC_000009.12:g.97998623C>T | gnomAD |
rs758841211 | p.Thr91Ala | missense variant | - | NC_000009.12:g.97998622A>G | ExAC,gnomAD |
rs1448780591 | p.Asn98Ser | missense variant | - | NC_000009.12:g.97998644A>G | gnomAD |
rs754411628 | p.Lys101Asn | missense variant | - | NC_000009.12:g.97998654A>C | ExAC,gnomAD |
rs1366853824 | p.Asp102Val | missense variant | - | NC_000009.12:g.97998656A>T | gnomAD |
NCI-TCGA novel | p.Asp102Ala | missense variant | - | NC_000009.12:g.97998656A>C | NCI-TCGA |
rs1437197011 | p.Ile103Thr | missense variant | - | NC_000009.12:g.97998659T>C | TOPMed,gnomAD |
rs535530800 | p.Ile103Met | missense variant | - | NC_000009.12:g.97998660C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1156729575 | p.Ser104Arg | missense variant | - | NC_000009.12:g.97998663C>G | TOPMed |
rs777366211 | p.Lys110Glu | missense variant | - | NC_000009.12:g.98004964A>G | ExAC,gnomAD |
rs1382025307 | p.Glu113Gln | missense variant | - | NC_000009.12:g.98004973G>C | TOPMed |
rs748979952 | p.Ser117Ile | missense variant | - | NC_000009.12:g.98004986G>T | ExAC,TOPMed,gnomAD |
rs748979952 | p.Ser117Asn | missense variant | - | NC_000009.12:g.98004986G>A | ExAC,TOPMed,gnomAD |
rs1476195765 | p.Leu120Phe | missense variant | - | NC_000009.12:g.98004994C>T | TOPMed,gnomAD |
rs1476195765 | p.Leu120Val | missense variant | - | NC_000009.12:g.98004994C>G | TOPMed,gnomAD |
rs1412787627 | p.Asn122Ile | missense variant | - | NC_000009.12:g.98005001A>T | gnomAD |
NCI-TCGA novel | p.Glu124Val | missense variant | - | NC_000009.12:g.98005007A>T | NCI-TCGA |
rs377406514 | p.Leu128Val | missense variant | - | NC_000009.12:g.98005018C>G | ESP,ExAC,gnomAD |
rs182096718 | p.Asp130Ala | missense variant | - | NC_000009.12:g.98005025A>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
COSM5131905 | p.Asp130Gly | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.98005025A>G | NCI-TCGA Cosmic |
rs771977254 | p.Glu133Gln | missense variant | - | NC_000009.12:g.98005033G>C | ExAC,gnomAD |
rs775300881 | p.Ser134Arg | missense variant | - | NC_000009.12:g.98005038T>G | ExAC,gnomAD |
rs1431749321 | p.Val135Ile | missense variant | - | NC_000009.12:g.98005039G>A | TOPMed,gnomAD |
rs1302544606 | p.Lys137Arg | missense variant | - | NC_000009.12:g.98005046A>G | gnomAD |
rs1302544606 | p.Lys137Thr | missense variant | - | NC_000009.12:g.98005046A>C | gnomAD |
rs761932651 | p.Leu138His | missense variant | - | NC_000009.12:g.98005049T>A | ExAC,gnomAD |
COSM1103079 | p.Leu139Pro | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.98005052T>C | NCI-TCGA Cosmic |
rs1418539448 | p.Gln141Arg | missense variant | - | NC_000009.12:g.98005058A>G | TOPMed |
rs770020996 | p.Leu142Phe | missense variant | - | NC_000009.12:g.98005060C>T | ExAC,gnomAD |
rs374883415 | p.Thr143Ile | missense variant | - | NC_000009.12:g.98005064C>T | ESP,ExAC,gnomAD |
COSM3902467 | p.Tyr144Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.98005067A>G | NCI-TCGA Cosmic |
rs1283264647 | p.Gly147Ser | missense variant | - | NC_000009.12:g.98005075G>A | gnomAD |
rs1448292635 | p.Tyr148Phe | missense variant | - | NC_000009.12:g.98005079A>T | gnomAD |
rs1046534844 | p.Asp149Glu | missense variant | - | NC_000009.12:g.98005083C>G | TOPMed |
rs149318680 | p.Arg150Gln | missense variant | - | NC_000009.12:g.98005085G>A | ESP,ExAC,TOPMed,gnomAD |
COSM1103080 | p.Gln153Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.98005094A>T | NCI-TCGA Cosmic |
rs759833673 | p.Pro156Ala | missense variant | - | NC_000009.12:g.98005102C>G | ExAC,gnomAD |
rs759833673 | p.Pro156Ser | missense variant | - | NC_000009.12:g.98005102C>T | ExAC,gnomAD |
rs1156850890 | p.Ala160Val | missense variant | - | NC_000009.12:g.98005115C>T | gnomAD |
rs201273635 | p.Ala160Thr | missense variant | - | NC_000009.12:g.98005114G>A | 1000Genomes |
rs1251083232 | p.Glu161Lys | missense variant | - | NC_000009.12:g.98005117G>A | TOPMed |
rs1325404711 | p.Val162Glu | missense variant | - | NC_000009.12:g.98005121T>A | gnomAD |
rs1401408342 | p.Asp163Gly | missense variant | - | NC_000009.12:g.98005124A>G | gnomAD |
rs753476000 | p.Val165Met | missense variant | - | NC_000009.12:g.98005129G>A | ExAC,gnomAD |
rs756969084 | p.Asp166Gly | missense variant | - | NC_000009.12:g.98005133A>G | ExAC,gnomAD |
rs1232087697 | p.Glu167Asp | missense variant | - | NC_000009.12:g.98005137A>C | TOPMed |
rs745616807 | p.Glu170Asp | missense variant | - | NC_000009.12:g.98005146G>C | ExAC,TOPMed,gnomAD |
rs1445206658 | p.Asp171His | missense variant | - | NC_000009.12:g.98005147G>C | gnomAD |
rs1481491470 | p.Gly174Arg | missense variant | - | NC_000009.12:g.98011273G>A | gnomAD |
rs1200375028 | p.Gly174Val | missense variant | - | NC_000009.12:g.98011274G>T | gnomAD |
NCI-TCGA novel | p.Gly174LysPheSerTerUnkUnk | frameshift | - | NC_000009.12:g.98005153_98005154insAA | NCI-TCGA |
rs1423224178 | p.Glu175Asp | missense variant | - | NC_000009.12:g.98011278A>T | gnomAD |
rs1464349905 | p.Asp176Gly | missense variant | - | NC_000009.12:g.98011280A>G | gnomAD |
rs1316585223 | p.Glu177Val | missense variant | - | NC_000009.12:g.98011283A>T | TOPMed,gnomAD |
rs1340831822 | p.Asp179Gly | missense variant | - | NC_000009.12:g.98011289A>G | TOPMed |
rs1023323281 | p.Asp179Asn | missense variant | - | NC_000009.12:g.98011288G>A | TOPMed |
rs1397753391 | p.Glu180Lys | missense variant | - | NC_000009.12:g.98011291G>A | gnomAD |
rs1363146642 | p.Asp182Asn | missense variant | - | NC_000009.12:g.98011297G>A | gnomAD |
rs1406283932 | p.Asp182Glu | missense variant | - | NC_000009.12:g.98011299T>G | TOPMed,gnomAD |
rs1283480300 | p.Asp184Asn | missense variant | - | NC_000009.12:g.98011303G>A | gnomAD |
rs1339906176 | p.Glu189Ala | missense variant | - | NC_000009.12:g.98011319A>C | gnomAD |
rs1223355183 | p.Asp191Val | missense variant | - | NC_000009.12:g.98011325A>T | gnomAD |
rs781295072 | p.Glu192Asp | missense variant | - | NC_000009.12:g.98011329A>T | ExAC,gnomAD |
rs554324727 | p.Glu193Gly | missense variant | - | NC_000009.12:g.98011331A>G | 1000Genomes,ExAC,gnomAD |
rs1000014447 | p.Glu193Asp | missense variant | - | NC_000009.12:g.98011332A>T | TOPMed |
rs770948925 | p.Asp194Glu | missense variant | - | NC_000009.12:g.98011335T>A | ExAC |
rs1472704292 | p.Glu196Asp | missense variant | - | NC_000009.12:g.98011341A>T | gnomAD |
rs1206430307 | p.Asp197Val | missense variant | - | NC_000009.12:g.98011343A>T | gnomAD |
rs1474420460 | p.Asp199Val | missense variant | - | NC_000009.12:g.98011349A>T | TOPMed |
NCI-TCGA novel | p.Val200Ile | missense variant | - | NC_000009.12:g.98011351G>A | NCI-TCGA |
rs774602963 | p.Gly202Arg | missense variant | - | NC_000009.12:g.98011357G>A | ExAC,gnomAD |
rs746127276 | p.Asp203His | missense variant | - | NC_000009.12:g.98011360G>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu204AlaGlyIleLysTer | stop gained | - | NC_000009.12:g.98011363_98011364insCAGGAATAAAAT | NCI-TCGA |
rs147068709 | p.Asp205Glu | missense variant | - | NC_000009.12:g.98011368C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1359422504 | p.Asp205Asn | missense variant | - | NC_000009.12:g.98011366G>A | gnomAD |
rs1319941915 | p.Asp206Asn | missense variant | - | NC_000009.12:g.98011369G>A | TOPMed,gnomAD |
rs1319941915 | p.Asp206Asn | missense variant | - | NC_000009.12:g.98011369G>A | NCI-TCGA Cosmic |
rs761031783 | p.Asp207Tyr | missense variant | - | NC_000009.12:g.98011372G>T | ExAC,gnomAD |
rs761031783 | p.Asp207Asn | missense variant | - | NC_000009.12:g.98011372G>A | ExAC,gnomAD |
rs761031783 | p.Asp207Asn | missense variant | - | NC_000009.12:g.98011372G>A | NCI-TCGA,NCI-TCGA Cosmic |
COSM5130751 | p.Glu208Gly | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.98011376A>G | NCI-TCGA Cosmic |
rs761343165 | p.Val209Gly | missense variant | - | NC_000009.12:g.98011379T>G | ExAC,gnomAD |
rs370631624 | p.Val209Ile | missense variant | - | NC_000009.12:g.98011378G>A | ESP,ExAC,gnomAD |
rs1330930663 | p.Glu211Gln | missense variant | - | NC_000009.12:g.98011384G>C | TOPMed |
rs1330930663 | p.Glu211Ter | stop gained | - | NC_000009.12:g.98011384G>T | TOPMed |
NCI-TCGA novel | p.Glu211Lys | missense variant | - | NC_000009.12:g.98011384G>A | NCI-TCGA |
rs1384813255 | p.Glu215Gln | missense variant | - | NC_000009.12:g.98012427G>C | gnomAD |
NCI-TCGA novel | p.Glu215Lys | missense variant | - | NC_000009.12:g.98012427G>A | NCI-TCGA |
rs769036871 | p.Phe216Cys | missense variant | - | NC_000009.12:g.98012431T>G | ExAC,gnomAD |
rs777088502 | p.Gly217Ala | missense variant | - | NC_000009.12:g.98012434G>C | ExAC,gnomAD |
rs769329548 | p.Asp219Glu | missense variant | - | NC_000009.12:g.98012441T>A | ExAC |
rs762271758 | p.Asp219Gly | missense variant | - | NC_000009.12:g.98012440A>G | ExAC,gnomAD |
rs1344592227 | p.Asp222Gly | missense variant | - | NC_000009.12:g.98012449A>G | TOPMed,gnomAD |
rs1202090461 | p.Asp222Glu | missense variant | - | NC_000009.12:g.98012450T>A | gnomAD |
rs1344592227 | p.Asp222Val | missense variant | - | NC_000009.12:g.98012449A>T | TOPMed,gnomAD |
rs1245351372 | p.Asp224Glu | missense variant | - | NC_000009.12:g.98012456T>A | gnomAD |
rs772534076 | p.Glu225Lys | missense variant | - | NC_000009.12:g.98012457G>A | ExAC,gnomAD |
rs3900080 | p.Glu225Asp | missense variant | - | NC_000009.12:g.98012459G>C | ExAC,gnomAD |
rs769811711 | p.Asp228Gly | missense variant | - | NC_000009.12:g.98012467A>G | ExAC,gnomAD |
rs1247883639 | p.Asp228Asn | missense variant | - | NC_000009.12:g.98012466G>A | TOPMed |
rs987139 | p.Glu230Lys | missense variant | - | NC_000009.12:g.98012472G>A | TOPMed |
rs1196801497 | p.Glu230Asp | missense variant | - | NC_000009.12:g.98015365G>T | gnomAD |
rs1431018280 | p.Glu231Lys | missense variant | - | NC_000009.12:g.98015366G>A | gnomAD |
rs1335613382 | p.Glu231Asp | missense variant | - | NC_000009.12:g.98015368G>C | TOPMed |
COSM4832286 | p.Glu233Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.98015372G>C | NCI-TCGA Cosmic |
rs796129328 | p.Gly234Ser | missense variant | - | NC_000009.12:g.98015375G>A | gnomAD |
rs796924529 | p.Gly235Arg | missense variant | - | NC_000009.12:g.98015378G>A | gnomAD |
NCI-TCGA novel | p.Gly237Cys | missense variant | - | NC_000009.12:g.98015384G>T | NCI-TCGA |
rs1389054833 | p.Arg242Lys | missense variant | - | NC_000009.12:g.98015400G>A | TOPMed |
rs1169708902 | p.Thr244Arg | missense variant | - | NC_000009.12:g.98015406C>G | gnomAD |
rs1352619278 | p.Asp245His | missense variant | - | NC_000009.12:g.98015408G>C | gnomAD |
NCI-TCGA novel | p.Asp245Tyr | missense variant | - | NC_000009.12:g.98015408G>T | NCI-TCGA |
rs1367645400 | p.Gly248Arg | missense variant | - | NC_000009.12:g.98015417G>A | TOPMed |
rs1463455065 | p.Glu249Asp | missense variant | - | NC_000009.12:g.98015422A>T | gnomAD |
rs76167314 | p.Asp250Asn | missense variant | - | NC_000009.12:g.98015423G>A | gnomAD |
rs112073824 | p.Asp251Glu | missense variant | - | NC_000009.12:g.98015428T>G | TOPMed,gnomAD |
rs112073824 | p.Asp251Glu | missense variant | - | NC_000009.12:g.98015428T>A | TOPMed,gnomAD |
rs112073824 | p.Asp251Glu | missense variant | - | NC_000009.12:g.98015428T>G | NCI-TCGA |