P21709 · EPHA1_HUMAN

  • Protein
    Ephrin type-A receptor 1
  • Gene
    EPHA1
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

1976100200300400500600700800900
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs18056369103R>QTOPMed
rs18056370713R>WTOPMed
gnomAD
rs18056368004R>LgnomAD
rs14096678825W>*gnomAD
rs11912268655W>GTOPMed
gnomAD
rs211664750710G>VEnsembl
rs211664748812V>LEnsembl
rs180563566514L>PTOPMed
rs180563558215L>VVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs134328773017A>TTOPMed
rs180563483718P>LEnsembl
rs89690924018P>S1000Genomes
rs146282308720P>HVariant of uncertain significance (Ensembl)TOPMed
rs146282308720P>LVariant of uncertain significance (Ensembl)TOPMed
rs180563451220P>STOPMed
rs180563425321P>ATOPMed
rs180563425321P>STOPMed
rs103817183223A>PTOPMed
gnomAD
RCV000950730
rs79587607
24R>HBenign (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs7958760724R>PBenign (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs211664734824R>SEnsembl
rs146719093525A>PTOPMed
gnomAD
rs146719093525A>STOPMed
gnomAD
rs127304797226K>*TOPMed
rs127304797226K>QTOPMed
TCGA novel29T>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs88989293630L>PEnsembl
COSV5197155131M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs134242806431M>TTOPMed
gnomAD
rs105029192532D>GTOPMed
gnomAD
COSV9931356232D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs77407935934S>NExAC
gnomAD
rs100063606835K>NTOPMed
COSV9931430436A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs76850144738G>RExAC
gnomAD
rs77988599039E>DExAC
TOPMed
gnomAD
rs93406264740L>PEnsembl
rs180559124241G>AgnomAD
rs138984024141G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs75579739545D>HExAC
TOPMed
gnomAD
COSV51974380
COSV51977249
rs571770871
46P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs180559094947P>REnsembl
rs118803174548K>NTOPMed
rs103715744249D>GgnomAD
COSV9931470049D>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs78074426250G>AExAC
TOPMed
gnomAD
rs211663200053E>QEnsembl
rs180542373855Q>KEnsembl
rs147017984656Q>KgnomAD
COSV51975758
rs2116631952
57I>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
rs76962758557I>TExAC
TOPMed
gnomAD
rs122451385760G>RgnomAD
rs211663191161T>REnsembl
rs180542263161T>SEnsembl
rs13923873162P>SVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs13923873162P>TVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs77837183863L>MVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs141469380364Y>CEnsembl
rs131980996365M>IgnomAD
rs180542169665M>TEnsembl
rs37699502665M>VESP
gnomAD
rs75886746067Q>*ExAC
gnomAD
COSV5197060967Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs134643496968D>NgnomAD
rs211663181368D>VEnsembl
rs134643496968D>YgnomAD
TCGA novel70P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs11812983471M>IVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs180542113771M>TTOPMed
rs211663177472Q>*Ensembl
rs180542093372Q>HTOPMed
gnomAD
rs211663176472Q>LEnsembl
rs211663176472Q>REnsembl
rs37331997573G>RESP
TOPMed
gnomAD
COSV51974471
COSV51977919
rs755258725
74R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
rs75525872574R>GExAC
gnomAD
rs53562233274R>H1000Genomes
ExAC
TOPMed
gnomAD
rs53562233274R>L1000Genomes
ExAC
TOPMed
gnomAD
rs125409299075R>KgnomAD
rs76645199275R>SExAC
gnomAD
rs156311965777T>AEnsembl
rs76084303577T>IExAC
TOPMed
gnomAD
rs76084303577T>NExAC
TOPMed
gnomAD
rs211663169180W>*Ensembl
rs77313636880W>*ExAC
TOPMed
gnomAD
COSV51971522
rs74721927
82R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV51970732
rs1029805928
82R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
rs102980592882R>LTOPMed
rs137211389683S>TgnomAD
rs129666593184N>DTOPMed
gnomAD
rs14219181584N>IVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs96151473584N>KgnomAD
rs14219181584N>SVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs136402370485W>RgnomAD
rs76972023485W>SExAC
gnomAD
rs180541810486I>LTOPMed
rs147881786186I>MTOPMed
gnomAD
rs180541803286I>TTOPMed
rs119467681487Y>*TOPMed
gnomAD
rs211663157387Y>FEnsembl
rs75935012388R>CExAC
gnomAD
rs14865351288R>HVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs14865351288R>LVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
TCGA novel88R>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs77262124689G>EExAC
gnomAD
rs14414663589G>RVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs14414663589G>WVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs180541695190E>KTOPMed
rs148615523291E>DEnsembl
rs74864893591E>KExAC
TOPMed
gnomAD
rs180541662092A>TTOPMed
rs211663147392A>VEnsembl
COSV5197705193S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs211663145393S>PEnsembl
COSV51969737
rs755348512
94R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs75534851294R>GExAC
TOPMed
gnomAD
COSV51977736
rs45447297
94R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs4544729794R>LVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs20122857495V>IVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs20122857495V>LVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs75269930997V>AExAC
TOPMed
gnomAD
rs76192229697V>LExAC
gnomAD
rs76192229697V>MExAC
gnomAD
rs14725401999L>M1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143810053100Q>H1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs924106822100Q>PEnsembl
rs1805414436102T>NTOPMed
rs760227816103V>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs760227816103V>MVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs369887921104R>LESP
ExAC
TOPMed
gnomAD
rs369887921104R>QESP
ExAC
TOPMed
gnomAD
rs201546539104R>W1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1805413410105D>EEnsembl
rs1460792502105D>GgnomAD
rs2116631238106C>YEnsembl
rs749711811107K>EExAC
TOPMed
gnomAD
rs780269428107K>NExAC
TOPMed
gnomAD
rs1053367957109F>STOPMed
COSV51970681110P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs756424890111G>EExAC
TOPMed
gnomAD
rs1805412828111G>RTOPMed
gnomAD
rs756424890111G>VExAC
TOPMed
gnomAD
COSV51970381
COSV51976424
rs781509885
112G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs1475628798113A>SgnomAD
rs1475628798113A>TgnomAD
rs2116631153113A>VEnsembl
rs530283884114G>R1000Genomes
ExAC
TOPMed
gnomAD
rs759367292115P>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1563119463116L>PEnsembl
rs972897874117G>RTOPMed
gnomAD
rs972897874117G>STOPMed
gnomAD
rs1233382933118C>YTOPMed
gnomAD
rs961153147119K>RTOPMed
rs1349425480120E>KgnomAD
rs760451814121T>NExAC
gnomAD
rs772864439122F>IExAC
gnomAD
rs764543064123N>TEnsembl
rs1375957847124L>FTOPMed
gnomAD
rs1299141462125L>PTOPMed
gnomAD
rs1299141462125L>QTOPMed
gnomAD
rs1392943742126Y>CTOPMed
gnomAD
rs1392943742126Y>FTOPMed
gnomAD
COSV51970291
rs111858878
127M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
dbSNP
rs767106252127M>LExAC
TOPMed
gnomAD
rs767106252127M>VExAC
TOPMed
gnomAD
rs761342435128E>AExAC
gnomAD
rs1586585702130D>NEnsembl
COSV99314655132D>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1287337651133V>GgnomAD
COSV51970621133V>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs773830927133V>MExAC
TOPMed
gnomAD
rs1158975064135I>LEnsembl
rs1805408917137L>FEnsembl
COSV51971793
rs1421157458
138R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs190437539138R>Q1000Genomes
ExAC
TOPMed
gnomAD
COSV51970809
COSV51975526
139R>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs770072024139R>PVariant of uncertain significance (Ensembl)ExAC
gnomAD
COSV51970809
COSV51975526
rs770072024
139R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
rs551009816139R>W1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel140P>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TCGA novel142F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs746261846145V>AExAC
TOPMed
gnomAD
rs770297450145V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
COSV99314785146T>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs776751373146T>NExAC
gnomAD
rs542068127147T>M1000Genomes
ExAC
TOPMed
gnomAD
rs542068127147T>R1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel148V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1805377471148V>GEnsembl
rs1181973754148V>MTOPMed
TCGA novel149A>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1365141935149A>TgnomAD
rs1316251675152Q>*gnomAD
rs1362684299152Q>HTOPMed
gnomAD
rs1384001533153S>NgnomAD
rs372053514154F>SESP
ExAC
TOPMed
gnomAD
rs150426007155T>AESP
ExAC
TOPMed
gnomAD
rs1805376601156I>VTOPMed
rs141528182157R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs779885233157R>PVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs779885233157R>QVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1805376267158D>EEnsembl
rs1174065751158D>YgnomAD
rs966013135159L>FTOPMed
gnomAD
VAR_028265
rs4725617
160V>A
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs4725617160V>E1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs4725617160V>G1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1008484548161S>CTOPMed
rs1805375532162G>SgnomAD
rs1194610095162G>VgnomAD
TCGA novel163S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs751226403164V>AVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs143405612164V>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143405612164V>M1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs982934449166L>PTOPMed
gnomAD
rs763757809167N>HExAC
gnomAD
rs762406186167N>KExAC
gnomAD
rs1805374686169E>DTOPMed
rs373364271169E>KESP
ExAC
gnomAD
COSV51969266
rs199931138
170R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs199931138170R>G1000Genomes
ExAC
TOPMed
gnomAD
rs777199962170R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs199931138170R>S1000Genomes
ExAC
TOPMed
gnomAD
rs141275729171C>W1000Genomes
ExAC
TOPMed
gnomAD
rs2116628550172S>CEnsembl
rs1586584699173L>REnsembl
rs1377529661175R>CTOPMed
gnomAD
rs760180128175R>HLikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs760180128175R>PLikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs779038165176L>VExAC
gnomAD
rs769688423177T>PExAC
gnomAD
COSV51971697
rs745810214
178R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs141392438178R>H1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141392438178R>P1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs540355150179R>C1000Genomes
ExAC
TOPMed
gnomAD
rs572755645179R>H1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel179R>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs540355150179R>S1000Genomes
ExAC
TOPMed
gnomAD
rs1475956163181L>FgnomAD
rs752203488182Y>CExAC
gnomAD
rs1437597746183L>PgnomAD
COSV51968479
rs1805372916
184A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
gnomAD
rs1805372845184A>VgnomAD
rs1805372781185F>LEnsembl
rs1198043030187N>SgnomAD
rs766943140188P>LExAC
TOPMed
gnomAD
rs766943140188P>QExAC
TOPMed
gnomAD
rs375516618189G>A1000Genomes
ESP
TOPMed
gnomAD
rs375516618189G>D1000Genomes
ESP
TOPMed
gnomAD
rs1294128583190A>DgnomAD
rs1423610614191C>YgnomAD
rs1441823997192V>AgnomAD
rs1441823997192V>GgnomAD
COSV51974539193A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1805371888194L>PgnomAD
rs774371662195V>AExAC
TOPMed
gnomAD
COSV99314154
rs1162100202
197V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
gnomAD
rs781143121198R>QExAC
gnomAD
rs749318217198R>WExAC
TOPMed
gnomAD
rs2116628305199V>GEnsembl
rs1805371266199V>ITOPMed
rs1805371207200F>SgnomAD
rs1231495693201Y>*TOPMed
gnomAD
rs557273137201Y>C1000Genomes
ExAC
TOPMed
gnomAD
rs557273137201Y>S1000Genomes
ExAC
TOPMed
gnomAD
rs1212476853202Q>LTOPMed
rs746832004203R>CExAC
gnomAD
rs373761584203R>HESP
ExAC
TOPMed
gnomAD
rs746832004203R>SExAC
gnomAD
rs1805370683206E>*TOPMed
gnomAD
rs1805370683206E>KTOPMed
gnomAD
rs1337019566209N>YgnomAD
rs1805370142210G>AEnsembl
rs201944315210G>SVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs778367248212A>SExAC
TOPMed
gnomAD
rs1281021546212A>VTOPMed
gnomAD
rs931862837213Q>PEnsembl
rs754557302216D>HExAC
gnomAD
rs754557302216D>NExAC
gnomAD
rs1421420411218L>PTOPMed
gnomAD
rs1323793671219P>SgnomAD
TCGA novel221P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs753358941221P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
dbSNP
gnomAD
rs756665403222A>SExAC
TOPMed
gnomAD
COSV51971665
rs756665403
222A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs1805369232223G>ETOPMed
rs1563118730226E>AgnomAD
rs921315527226E>DEnsembl
rs1563118730226E>VgnomAD
rs1398546577227V>AgnomAD
rs1314564039227V>MTOPMed
gnomAD
rs1409728916228A>SgnomAD
COSV99314567228A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs750821899228A>VExAC
TOPMed
gnomAD
rs762026258229G>EExAC
gnomAD
rs199988413230T>AExAC
gnomAD
rs199988413230T>PExAC
gnomAD
rs780968060233P>TEnsembl
rs1215181856234H>NgnomAD
rs1445436832234H>PgnomAD
rs200473622234H>Q1000Genomes
ExAC
TOPMed
gnomAD
rs1215181856234H>YgnomAD
rs770915770235A>EExAC
TOPMed
gnomAD
rs3812408235A>PTOPMed
gnomAD
rs3812408235A>TTOPMed
gnomAD
COSV51976174
rs770915770
235A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs747845357236R>PExAC
TOPMed
gnomAD
rs747845357236R>QExAC
TOPMed
gnomAD
rs201188496236R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1586584398237A>PEnsembl
rs754645542239P>AExAC
TOPMed
gnomAD
rs1805367092239P>LTOPMed
gnomAD
rs1805366945241P>SEnsembl
rs779696210242S>AExAC
gnomAD
rs912785967243G>ATOPMed
gnomAD
rs912785967243G>DTOPMed
gnomAD
rs912785967243G>VTOPMed
gnomAD
rs369211431245P>HESP
TOPMed
gnomAD
rs1455925427246R>CTOPMed
gnomAD
COSV51974273
rs200235266
246R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs200235266246R>LTOPMed
gnomAD
rs1455925427246R>STOPMed
gnomAD
rs750956234247M>IExAC
gnomAD
rs1412768892249C>RTOPMed
gnomAD
rs751843044252D>EExAC
TOPMed
gnomAD
rs763151811253G>AExAC
gnomAD
rs763151811253G>VExAC
gnomAD
rs549085590254E>K1000Genomes
ExAC
TOPMed
gnomAD
rs963454089255W>CTOPMed
gnomAD
rs1805364365255W>RTOPMed
rs201380861257V>GExAC
gnomAD
rs771860596258P>AExAC
gnomAD
rs1805363595258P>REnsembl
rs771860596258P>SExAC
gnomAD
rs748014434259V>GExAC
rs1805363372259V>ITOPMed
rs1390169786260G>ETOPMed
gnomAD
COSV51973006261R>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs201209720261R>P1000Genomes
TOPMed
gnomAD
rs201209720261R>Q1000Genomes
TOPMed
gnomAD
rs140233341261R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1586584265262C>GgnomAD
rs1586584265262C>RgnomAD
COSV99314950262C>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1270306538263H>QgnomAD
rs1805362436263H>REnsembl
rs1266044572265E>GTOPMed
gnomAD
rs1353200268265E>KgnomAD
rs748954306266P>LExAC
TOPMed
rs768480626266P>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs779796093267G>DExAC
TOPMed
gnomAD
rs1805361597267G>STOPMed
COSV99314464268Y>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs755673712268Y>DExAC
gnomAD
rs1450812457269E>GTOPMed
gnomAD
rs1189757406269E>KgnomAD
rs1450812457269E>VTOPMed
gnomAD
COSV51976216
rs745331095
270E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs1264578895271G>DgnomAD
rs781744273272G>DExAC
gnomAD
rs757685325274G>SExAC
TOPMed
gnomAD
COSV51970988
rs778110783
275E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Likely benign (Ensembl)NCI-TCGA Cosmic
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs2116627508276A>GEnsembl
rs1190425377277C>STOPMed
gnomAD
rs998751117278V>FTOPMed
rs754006853279A>VExAC
gnomAD
rs1222426721281P>SgnomAD
TCGA novel282S>A
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1047186045283G>DTOPMed
gnomAD
rs760751325283G>SExAC
TOPMed
gnomAD
rs1047186045283G>VTOPMed
gnomAD
rs751565118284S>YExAC
gnomAD
rs764084713285Y>HExAC
gnomAD
rs149680322286R>GESP
ExAC
TOPMed
gnomAD
COSV99313977
rs759111320
286R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs149680322286R>WESP
ExAC
TOPMed
gnomAD
COSV51968603287M>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2116626971287M>TEnsembl
rs1586583888288D>GEnsembl
rs139580332289M>IVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs1420650893289M>KgnomAD
rs931346217289M>VTOPMed
gnomAD
rs376356192292P>LESP
ExAC
gnomAD
rs201804057292P>S1000Genomes
ExAC
TOPMed
gnomAD
rs201804057292P>T1000Genomes
ExAC
TOPMed
gnomAD
rs1805352648294C>FTOPMed
gnomAD
rs372725643294C>RESP
ExAC
gnomAD
TCGA novel294C>V
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1805352648294C>YTOPMed
gnomAD
rs1209926212295L>FTOPMed
gnomAD
COSV99313825295L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs749818737296T>MExAC
gnomAD
rs2116626902296T>PEnsembl
rs779130970299Q>*ExAC
gnomAD
rs1433233682299Q>LgnomAD
rs1234156393300Q>*gnomAD
COSV51976949
COSV99314294
300Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1234156393300Q>KgnomAD
rs1269104175301S>IgnomAD
rs1179553928301S>RgnomAD
rs1369463541302T>AgnomAD
rs1305651240303A>TgnomAD
rs1805351654306E>*TOPMed
rs755294761307G>RExAC
TOPMed
gnomAD
COSV99314239
rs1287321074
308A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
gnomAD
rs150974578308A>V1000Genomes
ESP
TOPMed
gnomAD
rs749476007309T>AExAC
TOPMed
gnomAD
rs1805351077309T>IEnsembl
rs368306573310I>LESP
ExAC
TOPMed
gnomAD
rs368306573310I>VESP
ExAC
TOPMed
gnomAD
rs1199574359313C>*TOPMed
gnomAD
rs866186417313C>FEnsembl
rs1805350772313C>RTOPMed
rs55874355314E>DBenign (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs538968659314E>K1000Genomes
ExAC
gnomAD
rs752606620315S>NExAC
gnomAD
rs769788964315S>RExAC
TOPMed
gnomAD
rs766012017316G>DExAC
gnomAD
rs776167447316G>SExAC
TOPMed
gnomAD
rs1210636799319R>GTOPMed
gnomAD
rs1402059738319R>SEnsembl
rs553135371320A>G1000Genomes
ExAC
gnomAD
rs1346262028320A>TgnomAD
rs553135371320A>V1000Genomes
ExAC
gnomAD
rs1028814084322G>RTOPMed
gnomAD
rs1341375671323E>DgnomAD
TCGA novel323E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1805348964325P>STOPMed
rs1805348666326Q>HVariant of uncertain significance (Ensembl)TOPMed
rs1563118204326Q>PEnsembl
rs920137837327V>ATOPMed
rs748648594327V>MExAC
gnomAD
COSV99314812
rs1377102797
329C>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
gnomAD
rs1787360676330T>IgnomAD
COSV51976747331G>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1358763630331G>DgnomAD
COSV51976747331G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs781511591332P>AExAC
TOPMed
gnomAD
rs1238073297332P>LgnomAD
rs781511591332P>SExAC
TOPMed
gnomAD
rs781511591332P>TExAC
TOPMed
gnomAD
rs778751497333P>LExAC
gnomAD
rs1008147879333P>STOPMed
gnomAD
rs754919004334S>LExAC
TOPMed
gnomAD
rs779818196335A>PExAC
TOPMed
gnomAD
rs779818196335A>TExAC
TOPMed
gnomAD
rs755838535335A>VExAC
TOPMed
gnomAD
rs1440878134336P>HTOPMed
gnomAD
rs1440878134336P>LTOPMed
gnomAD
rs1181013168336P>SgnomAD
rs767116546337R>*ExAC
TOPMed
gnomAD
rs201581948337R>QESP
ExAC
TOPMed
gnomAD
rs1805338938338N>KTOPMed
rs1805338699340S>REnsembl
rs199837219341F>C1000Genomes
TOPMed
rs199837219341F>S1000Genomes
TOPMed
rs143872412342S>CVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs1805338501342S>TTOPMed
rs1204837184344S>PgnomAD
rs763514757346T>AExAC
gnomAD
rs776076308346T>IExAC
gnomAD
rs895369223347Q>ETOPMed
gnomAD
rs1240735868347Q>RTOPMed
gnomAD
COSV99314506
rs1370189067
348L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs1300542881348L>PgnomAD
rs1056746694349S>YTOPMed
gnomAD
VAR_042115
rs56006153
351R>C
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs111641464351R>H1000Genomes
ExAC
TOPMed
gnomAD
rs111641464351R>L1000Genomes
ExAC
TOPMed
gnomAD
COSV99314529352W>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1398632917352W>CgnomAD
rs771244062354P>TExAC
gnomAD
rs747104136355P>TExAC
gnomAD
rs777893167356A>EExAC
gnomAD
COSV51971858357D>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1192382687357D>YgnomAD
COSV51971846358T>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs370810516358T>MESP
ExAC
TOPMed
gnomAD
rs1192707729359G>AgnomAD
rs1192707729359G>EgnomAD
COSV99313505
COSV99313676
359G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs750188342360G>EExAC
gnomAD
rs139831060360G>RESP
ExAC
TOPMed
gnomAD
rs200253721361R>C1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144736263361R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1367657243362Q>HgnomAD
rs1220921084362Q>PgnomAD
rs1220921084362Q>RgnomAD
rs1269108743364V>ITOPMed
gnomAD
rs1478960763365R>GTOPMed
rs1424510804365R>STOPMed
rs751098607366Y>FExAC
gnomAD
rs965820153366Y>HEnsembl
rs763667866367S>TExAC
gnomAD
rs1805335025370C>YTOPMed
rs1420692583371S>AgnomAD
rs1161570547372Q>PTOPMed
gnomAD
rs1161570547372Q>RTOPMed
gnomAD
rs1805334671373C>YTOPMed
rs765803133374Q>*ExAC
rs1805334538374Q>LTOPMed
COSV51970393375G>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs149370167375G>SVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
COSV51970234376T>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1474516797376T>IgnomAD
rs1805334092378Q>*TOPMed
rs964228335379D>NTOPMed
gnomAD
rs773238741380G>EExAC
TOPMed
gnomAD
rs760945286380G>RExAC
TOPMed
gnomAD
rs773238741380G>VExAC
TOPMed
gnomAD
rs1274962847381G>ETOPMed
gnomAD
rs1805333227381G>REnsembl
rs57652656382P>A1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs57652656382P>S1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1212296171385P>SgnomAD
rs1805332302386C>WEnsembl
COSV99314649
rs1034352541
387G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs150254405387G>RESP
TOPMed
gnomAD
rs756937821389G>DExAC
TOPMed
gnomAD
rs145891509390V>LESP
ExAC
TOPMed
gnomAD
rs145891509390V>MESP
ExAC
TOPMed
gnomAD
rs752219228391H>RExAC
gnomAD
rs1416363336391H>YTOPMed
gnomAD
rs765890431393S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs140236236394P>LVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs760889211396A>TExAC
TOPMed
gnomAD
rs151135649396A>V1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143087087397R>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375682369397R>WESP
ExAC
TOPMed
gnomAD
rs769791439399L>FExAC
gnomAD
COSV99314053
rs1483496235
400T>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
gnomAD
COSV51971566400T>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1041401654401T>ITOPMed
rs776377613402P>RExAC
gnomAD
rs745812223402P>SExAC
TOPMed
gnomAD
rs745812223402P>TExAC
TOPMed
gnomAD
rs1805329865403A>VTOPMed
rs1258191923404V>LgnomAD
rs1805329541405H>PEnsembl
rs373557157405H>QESP
ExAC
TOPMed
gnomAD
rs1332253649405H>YTOPMed
gnomAD
rs1473289970406V>ATOPMed
gnomAD
rs1389778296407N>DgnomAD
rs1230393947407N>STOPMed
gnomAD
COSV51975564408G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1412334805412Y>HTOPMed
rs867325911413A>VEnsembl
rs2116624872414N>DEnsembl
rs1805328809416T>NTOPMed
rs199888663418N>K1000Genomes
ExAC
TOPMed
gnomAD
rs1805328525419V>AEnsembl
rs1388321070419V>MgnomAD
TCGA novel420E>K
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs778558358420E>KExAC
gnomAD
rs766865327421A>DExAC
TOPMed
gnomAD
rs754469465421A>TExAC
gnomAD
rs766865327421A>VExAC
TOPMed
gnomAD
rs942524237422Q>*TOPMed
gnomAD
rs942524237422Q>ETOPMed
gnomAD
rs756532762425V>MExAC
TOPMed
gnomAD
rs1805328001426S>*gnomAD
rs767837551427G>VExAC
gnomAD
rs1212536971428L>QTOPMed
gnomAD
rs762019218429G>RExAC
TOPMed
gnomAD
rs762019218429G>SExAC
TOPMed
gnomAD
rs1266841388431S>CgnomAD
COSV51975802431S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1203283583431S>PTOPMed
rs1322662465432G>VTOPMed
gnomAD
rs149068255433H>RESP
ExAC
TOPMed
gnomAD
rs368513616434A>VExAC
TOPMed
gnomAD
rs1440252878436T>AgnomAD
rs763362632436T>IExAC
TOPMed
gnomAD
rs763362632436T>NExAC
TOPMed
gnomAD
rs1440252878436T>PgnomAD
rs1563117532437S>LEnsembl
rs760562408438V>IExAC
TOPMed
gnomAD
rs772865226442M>VExAC
gnomAD
rs1805326512443G>EgnomAD
rs771914513445A>EExAC
gnomAD
rs1156638928445A>TTOPMed
gnomAD
rs747805007446E>KExAC
gnomAD
rs773138765450G>DExAC
gnomAD
rs1805320693450G>SEnsembl
rs1805320167451L>PEnsembl
rs774180152452S>CExAC
gnomAD
rs774180152452S>FExAC
gnomAD
rs768392833456V>LExAC
gnomAD
rs748879034457K>MVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs1805319547457K>NTOPMed
rs779424882458K>TExAC
gnomAD
rs202178565460P>LExAC
TOPMed
gnomAD
rs1805319219460P>STOPMed
gnomAD
rs1295746198461R>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Ensembl
dbSNP
rs757242801462Q>*TOPMed
rs1805318678462Q>LTOPMed
rs1805318625464E>GEnsembl
rs539891278466T>N1000Genomes
ExAC
gnomAD
COSV51972371467W>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs751886971467W>LExAC
TOPMed
gnomAD
rs757647389467W>RExAC
TOPMed
gnomAD
rs577729690468A>VTOPMed
gnomAD
rs758540262469G>EExAC
TOPMed
gnomAD
rs1003754616469G>RTOPMed
rs143535859471R>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145268229471R>W1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV51976363
rs201944531
473R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs201944531473R>GVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs147852131473R>LESP
ExAC
TOPMed
gnomAD
rs147852131473R>QESP
ExAC
TOPMed
gnomAD
rs1331468050474S>RTOPMed
gnomAD
COSV51976657475P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs187179716475P>S1000Genomes
ExAC
TOPMed
gnomAD
rs1187305212476G>WgnomAD
rs373049955477A>V1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775148876480T>IExAC
gnomAD
rs1805316774480T>PTOPMed
gnomAD
rs769207409481Y>CExAC
TOPMed
gnomAD
rs73154214484H>Q1000Genomes
ExAC
TOPMed
gnomAD
rs1805316262485V>ETOPMed
rs144470322485V>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144470322485V>M1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel487N>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs749437637489D>HExAC
TOPMed
gnomAD
rs749437637489D>NExAC
TOPMed
gnomAD
rs749437637489D>YExAC
TOPMed
gnomAD
VAR_028266
rs11768549
492R>Q
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV51973676
rs756203512
492R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs1805309396494Q>*TOPMed
gnomAD
rs375144213494Q>HExAC
TOPMed
gnomAD
TCGA novel494Q>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs752512314495M>TExAC
TOPMed
gnomAD
rs1303820676495M>VTOPMed
gnomAD
rs764851795496V>AExAC
gnomAD
rs2116623305496V>IEnsembl
rs759180125497L>IExAC
gnomAD
rs759180125497L>VExAC
gnomAD
rs1706447180499P>LVariant of uncertain significance (Ensembl)Ensembl
rs765891077500R>GExAC
TOPMed
gnomAD
rs765891077500R>WExAC
TOPMed
gnomAD
rs1331331625501V>FgnomAD
rs1399765615507Q>*TOPMed
gnomAD
rs1228564780509D>NEnsembl
rs773742864513I>VExAC
TOPMed
gnomAD
CM1512490
COSV51973321
rs567483385
514V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
NCI-TCGA Cosmic
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs567483385514V>L1000Genomes
ExAC
TOPMed
gnomAD
rs774766257515R>*ExAC
gnomAD
rs964910085515R>STOPMed
gnomAD
rs1805307392516V>FTOPMed
COSV51968826517R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV51970054
rs200836382
517R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1193288958518M>TgnomAD
rs372088764518M>VESP
ExAC
TOPMed
gnomAD
rs2116623121520T>SEnsembl
rs371246344524P>HgnomAD
rs371246344524P>LgnomAD
rs1805306785524P>SEnsembl
rs150816053526P>RESP
ExAC
TOPMed
gnomAD
rs1805306617526P>STOPMed
rs867003393527F>IEnsembl
COSV51972873527F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV51971306528S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs777617799528S>YExAC
gnomAD
COSV51968414529P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1275810756530D>NgnomAD
rs1449976693531H>NEnsembl
rs1220447296531H>RgnomAD
rs1181962967532E>GgnomAD
rs778778160534R>QExAC
TOPMed
gnomAD
rs142265364534R>WESP
ExAC
TOPMed
gnomAD
rs765978732536S>IExAC
TOPMed
gnomAD
rs765978732536S>NExAC
TOPMed
gnomAD
COSV51973150537P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1332849160538P>AgnomAD
rs760220358538P>LExAC
TOPMed
gnomAD
rs760220358538P>RExAC
TOPMed
gnomAD
rs1332849160538P>SgnomAD
TCGA novel539V>=
Variant assessed as Somatic; LOW impact. (NCI-TCGA)
NCI-TCGA
rs1805296522539V>ATOPMed
gnomAD
rs771069813540S>PExAC
gnomAD
rs774390706542G>AExAC
TOPMed
gnomAD
rs747022455542G>SExAC
TOPMed
gnomAD
rs774390706542G>VExAC
TOPMed
gnomAD
rs1277534592545G>ATOPMed
gnomAD
rs1805295704545G>RTOPMed
TCGA novel547E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs936860521547E>DTOPMed
rs1805295461547E>KTOPMed
gnomAD
rs1298929475548I>TgnomAD
rs1381290223549V>ATOPMed
gnomAD
rs1805295088550A>PEnsembl
rs779820434550A>VExAC
gnomAD
rs1357284899551V>DTOPMed
gnomAD
rs535509887551V>ILikely benign (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs1425152855552I>VTOPMed
gnomAD
rs780668174553F>SExAC
TOPMed
gnomAD
rs780668174553F>YExAC
TOPMed
gnomAD
rs1207373721555L>RTOPMed
gnomAD
rs111778416558G>A1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1805294004558G>CTOPMed
rs111778416558G>D1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1805294004558G>STOPMed
rs111778416558G>V1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1250670366560A>GTOPMed
gnomAD
rs1437436171560A>TTOPMed
rs1805293117564G>REnsembl
TCGA novel566L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV51970638
rs555414886
567V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs555414886567V>L1000Genomes
ExAC
TOPMed
gnomAD
rs1360684162568F>SgnomAD
rs776947009569R>PVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV51973162
rs776947009
569R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs200212760569R>W1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765726381570S>FVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1365759219571R>GgnomAD
rs1002258055573A>TTOPMed
gnomAD
rs560427865573A>V1000Genomes
ExAC
TOPMed
gnomAD
rs1366219382574Q>*TOPMed
gnomAD
rs1366219382574Q>ETOPMed
gnomAD
rs1263031167574Q>HTOPMed
gnomAD
VAR_042116
rs35719334
575R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
UniProt
TOPMed
dbSNP
gnomAD
rs780288031575R>WVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1301595315576Q>HTOPMed
gnomAD
COSV99314048576Q>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs750667620577R>GExAC
gnomAD
rs1454467110577-578RQ>*TOPMed
gnomAD
rs1805283440578Q>*Ensembl
rs1013254568578Q>RTOPMed
rs1317538155579Q>*gnomAD
rs1317538155579Q>EgnomAD
rs1052212564579Q>HTOPMed
rs1563116532581Q>*Ensembl
rs574748801582R>C1000Genomes
ExAC
TOPMed
gnomAD
rs555587376582R>HVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel582R>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1229337821583D>HgnomAD
rs983868627584R>CTOPMed
gnomAD
rs765284054584R>H1000Genomes
ExAC
TOPMed
gnomAD
VAR_042117
rs34178823
585A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
UniProt
1000Genomes
TOPMed
dbSNP
gnomAD
rs1336834470585A>VgnomAD
TCGA novel586T>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1172447950587D>EgnomAD
rs866192433587D>HTOPMed
gnomAD
rs866192433587D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs866192433587D>YTOPMed
gnomAD
rs1463832415588V>MgnomAD
rs1374033123589D>GgnomAD
rs1033504857589D>NTOPMed
rs776941825590R>*TOPMed
gnomAD
rs776941825590R>GTOPMed
gnomAD
rs1052285437590R>QTOPMed
gnomAD
rs1352423458591E>DTOPMed
TCGA novel592D>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs781449260592D>HExAC
TOPMed
gnomAD
rs781449260592D>YExAC
TOPMed
gnomAD
rs369040226593K>NESP
ExAC
TOPMed
gnomAD
rs1221511235594L>MTOPMed
gnomAD
rs764091010596L>MExAC
gnomAD
rs1805255051597K>NTOPMed
rs758452852598P>AExAC
gnomAD
rs753747935599Y>*ExAC
gnomAD
rs1805254747600V>MgnomAD
rs1805254640601D>NEnsembl
rs1805254383603Q>HTOPMed
rs1419645656604A>EgnomAD
rs1378490342605Y>HgnomAD
rs754397131606E>KVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs146399527607D>AESP
TOPMed
gnomAD
rs1197085174611G>*gnomAD
rs376643332612A>DESP
TOPMed
gnomAD
rs376643332612A>GESP
TOPMed
gnomAD
rs767349665612A>TExAC
gnomAD
rs10952549613L>M1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1678992035613L>RTOPMed
TCGA novel614D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs768075049616T>SExAC
gnomAD
rs138935836617R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs200018558617R>W1000Genomes
ExAC
TOPMed
gnomAD
rs1392328745618E>QVariant of uncertain significance (Ensembl)TOPMed
rs1805251041619L>ITOPMed
gnomAD
rs1805251041619L>VTOPMed
gnomAD
rs1805250826620D>GEnsembl
rs1284336251620D>HgnomAD
rs1399859924621P>LTOPMed
gnomAD
rs1399859924621P>RTOPMed
gnomAD
rs200499248622A>E1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200499248622A>V1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1316479823624L>RTOPMed
rs1190218089625M>TVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1805249902626V>AgnomAD
rs747214273627D>GExAC
gnomAD
rs1429662347628T>AgnomAD
rs1805249359628T>ITOPMed
rs1805249359628T>STOPMed
rs1196145922629V>ITOPMed
gnomAD
rs1476759571630I>TgnomAD
rs1805248910630I>VTOPMed
rs1805219347633G>ETOPMed
gnomAD
rs369094884633G>RESP
ExAC
TOPMed
gnomAD
TCGA novel634E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs899153539634E>DTOPMed
rs1170878071637E>*TOPMed
gnomAD
rs1404616704637E>GgnomAD
rs1383290063638V>LTOPMed
gnomAD
rs544066979639Y>CgnomAD
rs112723648640R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs112723648640R>GESP
ExAC
TOPMed
gnomAD
rs761006248640R>QExAC
TOPMed
gnomAD
rs529885927641G>R1000Genomes
ExAC
gnomAD
rs1586579610642T>PEnsembl
rs1805218153644R>KgnomAD
rs772261312645L>IExAC
TOPMed
gnomAD
rs1586579598645L>PEnsembl
rs748417082646P>LExAC
gnomAD
rs1805217669647S>IEnsembl
rs768890787648Q>*ExAC
gnomAD
rs1290195084649D>NgnomAD
rs1248856138650C>RgnomAD
rs373965465650C>SESP
TOPMed
gnomAD
rs373965465650C>YESP
TOPMed
gnomAD
rs749349744651K>TExAC
gnomAD
rs2116616798652T>AEnsembl
rs374663592655I>MEnsembl
rs879098618655I>VTOPMed
COSV51972533
rs1805216810
658L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
gnomAD
rs781335770659K>EExAC
gnomAD
rs1375790178662S>YVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs757213006663P>LExAC
TOPMed
gnomAD
rs751386524664G>CExAC
TOPMed
gnomAD
rs751386524664G>RExAC
TOPMed
gnomAD
rs1375071460665G>STOPMed
rs777636741666Q>HVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs993369891666Q>RTOPMed
rs1805216048667W>*Ensembl
rs1805216103667W>RTOPMed
rs1805215988670F>LEnsembl
rs1805215813671L>FTOPMed
gnomAD
COSV51976327671L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs758075798672R>*ExAC
gnomAD
rs752373855672R>QExAC
TOPMed
gnomAD
rs1398707074673E>GTOPMed
gnomAD
rs759092209674A>SExAC
TOPMed
gnomAD
rs759092209674A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs753335365677M>LExAC
TOPMed
gnomAD
rs766864547678G>RExAC
gnomAD
COSV99313652678G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel679Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs2116616616681S>C1000Genomes
COSV51975331682H>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs140700329683P>LESP
ExAC
TOPMed
gnomAD
rs200904525683P>TESP
ExAC
TOPMed
gnomAD
rs774757061684H>RExAC
gnomAD
rs1213712645685I>VgnomAD
rs371479433687H>LExAC
gnomAD
rs371479433687H>PExAC
gnomAD
rs371479433687H>RExAC
gnomAD
rs1805214243687H>YgnomAD
rs1343356019688L>VgnomAD
COSV99313983689E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
RCV000895356
rs145160235
691V>ILikely benign (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs758249861692V>IExAC
TOPMed
gnomAD
COSV51968711
rs747914291
695R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
COSV51970001695R>=
Variant assessed as Somatic; LOW impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1805209495697P>AEnsembl
VAR_042118
rs34372369
697P>L
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs752053540699M>TExAC
TOPMed
gnomAD
rs1364115555701I>FgnomAD
rs1336934305703E>DgnomAD
rs764574963703E>GExAC
gnomAD
VAR_042119
COSV51972727
703E>K
a breast pleomorphic lobular carcinoma sample; somatic mutation (UniProt)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (UniProt)UniProt
NCI-TCGA Cosmic
rs763368841705M>TExAC
TOPMed
gnomAD
rs1445606633705M>VgnomAD
rs375566010706E>DESP
ExAC
TOPMed
gnomAD
rs1805208756706E>VTOPMed
TCGA novel707N>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV99314502708G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV51974521710L>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel711D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TCGA novel713F>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1294092057715R>WTOPMed
gnomAD
rs147817243716E>K1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1222747501717R>GEnsembl
rs144535927717R>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144535927717R>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1222747501717R>WEnsembl
rs758879954718E>DExAC
gnomAD
rs1362250559718E>KgnomAD
rs2116615669719D>NEnsembl
rs548151465720Q>*1000Genomes
ExAC
rs149121680724G>EESP
ExAC
gnomAD
rs760710752725Q>HExAC
TOPMed
gnomAD
rs1204021687725Q>RgnomAD
rs774312704727V>EExAC
gnomAD
rs768560146729M>IExAC
gnomAD
rs1177683199729M>RTOPMed
rs1283061958731Q>KTOPMed
gnomAD
rs775145198733I>MExAC
TOPMed
gnomAD
rs1805203620733I>TTOPMed
rs1805203677733I>VEnsembl
rs1367983073734A>TgnomAD
rs553708553737M>IExAC
TOPMed
gnomAD
rs915206166739Y>*TOPMed
gnomAD
rs1805203133739Y>FTOPMed
rs1563115168739Y>HEnsembl
rs964365496741S>NTOPMed
gnomAD
COSV51972514741S>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1805202930742N>STOPMed
rs1160462380743H>YTOPMed
gnomAD
rs1454514009744N>DgnomAD
rs1428259311744N>STOPMed
gnomAD
rs1805202609747H>YEnsembl
rs145070507748R>GESP
ExAC
TOPMed
gnomAD
rs376954641748R>QESP
ExAC
TOPMed
gnomAD
rs145070507748R>WESP
ExAC
TOPMed
gnomAD
rs778478420749D>HExAC
gnomAD
rs758966764749D>VExAC
gnomAD
rs1205296887751A>TgnomAD
rs1307412502757V>ETOPMed
gnomAD
rs1347822108757V>MgnomAD
rs2116615370758N>TEnsembl
rs1805201406759Q>*Ensembl
COSV99314391759Q>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1805201342760N>KgnomAD
rs1805201208761L>QEnsembl
rs1805201071763C>RTOPMed
rs1758168775763C>WgnomAD
rs756235783763C>YExAC
gnomAD
rs750490381764K>EExAC
TOPMed
gnomAD
rs73726637764K>M1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs73726637764K>T1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1470816324765V>LgnomAD
rs1425649832766S>TgnomAD
rs775447726767D>GExAC
gnomAD
rs1167212623767D>NgnomAD
rs764971738768F>SExAC
gnomAD
rs146094673771T>SESP
ExAC
TOPMed
gnomAD
rs1197422509772R>CTOPMed
rs1197422509772R>GTOPMed
rs550789024772R>H1000Genomes
ExAC
TOPMed
gnomAD
rs1012896062773L>HTOPMed
gnomAD
rs144262121775D>GESP
ExAC
TOPMed
gnomAD
rs771554580777F>CExAC
gnomAD
rs771554580777F>SExAC
gnomAD
rs757458618778D>EEnsembl
rs748628634778D>YExAC
TOPMed
gnomAD
rs749718342779G>DTOPMed
gnomAD
rs373447921779G>SESP
ExAC
TOPMed
gnomAD
rs749718342779G>VTOPMed
gnomAD
rs755342811781Y>*ExAC
TOPMed
gnomAD
rs1382179005781Y>HTOPMed
gnomAD
rs1382179005781Y>NTOPMed
gnomAD
COSV51969779
rs1454804041
782E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs549847780785G>*ExAC
TOPMed
gnomAD
rs1490332858786G>AVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs754947166787K>RExAC
gnomAD
rs1805180693789P>LTOPMed
gnomAD
rs753768975790I>TExAC
TOPMed
gnomAD
rs766301333791R>CVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs139711610791R>H1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139711610791R>P1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV51970419791R>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2116614034792W>CEnsembl
rs1805179812793T>PgnomAD
rs1805179502794A>GEnsembl
rs1805179605794A>SEnsembl
rs1805179290795P>STOPMed
COSV51971779796E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV99313599797A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1805179198797A>VgnomAD
rs767987164798I>VExAC
gnomAD
rs1805178890800H>RgnomAD
rs775933608801R>GVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs770181636801R>QExAC
TOPMed
gnomAD
rs775933608801R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)ExAC
TOPMed
dbSNP
gnomAD
rs1156441347803F>CgnomAD
rs991771396804T>ATOPMed
rs1805177911805T>ITOPMed
rs781323096806A>VExAC
rs771180177807S>CExAC
COSV51977341807S>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
VAR_042120
rs56244405
807S>R
UniProt
TOPMed
dbSNP
gnomAD
COSV51970251
rs747132712
808D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs1805177081809V>MVariant of uncertain significance (Ensembl)Ensembl
rs1193453669810W>*TOPMed
gnomAD
rs372075941810W>*ESP
ExAC
gnomAD
COSV99313943810W>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1488827817813G>RgnomAD
rs1805176623814I>FEnsembl
rs758500982816M>IExAC
gnomAD
rs753859464817W>*ExAC
gnomAD
TCGA novel818E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TCGA novel818E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1586578240819V>GEnsembl
rs780109666819V>MExAC
gnomAD
rs1209190903820L>PTOPMed
gnomAD
rs1805175758821S>GTOPMed
rs750219974823G>RExAC
TOPMed
gnomAD
rs1186505049824D>ETOPMed
gnomAD
rs761535126826P>LExAC
gnomAD
rs767146354826P>SExAC
TOPMed
gnomAD
rs767146354826P>TExAC
TOPMed
gnomAD
rs190709674828G>V1000Genomes
rs1426261434828G>WTOPMed
gnomAD
rs763688617830M>IExAC
TOPMed
gnomAD
rs1164168455830M>RTOPMed
gnomAD
rs1164168455830M>TTOPMed
gnomAD
rs1175311514831S>NgnomAD
rs1388224522832N>STOPMed
gnomAD
rs1563114662833Q>*TOPMed
gnomAD
rs1805173824834E>KTOPMed
rs1805163746836M>TgnomAD
COSV99313574837K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1008251277838S>GgnomAD
rs1008251277838S>RgnomAD
rs1362271571839I>TTOPMed
gnomAD
COSV51968149840E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1390900021840E>KgnomAD
rs951430650841D>NEnsembl
rs764660537842G>AExAC
TOPMed
gnomAD
rs764660537842G>EExAC
TOPMed
gnomAD
COSV51975121
rs766796352
844R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
COSV51975463
rs753822753
844R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs1213536991846P>LgnomAD
rs555934791847P>R1000Genomes
ExAC
gnomAD
COSV51975199847P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs772410524849V>MExAC
TOPMed
gnomAD
rs1805162328852P>ATOPMed
rs748306167853A>TExAC
gnomAD
rs768802916854P>LExAC
TOPMed
gnomAD
rs774581597854P>SExAC
gnomAD
rs2116612768856Y>HEnsembl
rs1433805900859M>RgnomAD
rs1433805900859M>TgnomAD
rs1270475638860K>NTOPMed
rs780958221861N>KExAC
COSV51974550864A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1805161267865Y>*Ensembl
rs1586577733866D>AEnsembl
COSV99314972866D>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs199929557867R>CVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs766464624867R>HExAC
TOPMed
gnomAD
rs766464624867R>PExAC
TOPMed
gnomAD
rs1371180068868A>DVariant of uncertain significance (Ensembl)gnomAD
rs1371180068868A>GVariant of uncertain significance (Ensembl)gnomAD
rs758050233869R>CExAC
TOPMed
gnomAD
rs1055875730869R>HEnsembl
rs146374704870R>LESP
ExAC
TOPMed
gnomAD
rs146374704870R>PESP
ExAC
TOPMed
gnomAD
rs146374704870R>QESP
ExAC
TOPMed
gnomAD
rs374097841870R>WVariant of uncertain significance (Ensembl)ESP
TOPMed
gnomAD
rs56124846872H>QBenign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1418235400873F>LgnomAD
rs1248159907874Q>RgnomAD
rs1207144543875K>EgnomAD
rs1483335998876L>FgnomAD
rs1483335998876L>IgnomAD
rs754403787878A>EExAC
TOPMed
gnomAD
rs1805159716878A>TTOPMed
gnomAD
rs754411170882Q>*ExAC
gnomAD
rs891269774884L>FTOPMed
gnomAD
rs891269774884L>ITOPMed
gnomAD
COSV51969801885A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs537988053888H>DExAC
gnomAD
COSV99313528888H>T
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs537988053888H>YExAC
gnomAD
rs761160914889S>FExAC
TOPMed
gnomAD
rs372390038889S>PgnomAD
rs370603321890L>PVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs762143229891R>QExAC
TOPMed
gnomAD
rs767930814891R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs148388192892T>IESP
ExAC
TOPMed
gnomAD
rs138978752893I>T1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1164006815893I>VgnomAD
rs1362341860894A>SgnomAD
rs1362341860894A>TgnomAD
rs776685006895N>HExAC
gnomAD
rs770766668896F>LExAC
TOPMed
gnomAD
rs1472820846896F>VgnomAD
rs1586577581896F>YEnsembl
rs746892705897D>YExAC
gnomAD
rs777558068898P>HExAC
gnomAD
rs1248591499898P>STOPMed
gnomAD
rs1764865478899R>GTOPMed
rs778597320899R>SExAC
gnomAD
rs1405011301900M>IgnomAD
rs6967117900M>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_028267
rs6967117
900M>V
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1586575815901T>PEnsembl
TCGA novel902L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs748905712903R>CExAC
TOPMed
gnomAD
rs200265062903R>H1000Genomes
ExAC
TOPMed
gnomAD
rs748905712903R>SExAC
TOPMed
gnomAD
rs1167311375906S>RgnomAD
rs1425745397906S>TgnomAD
rs1805094085907L>PEnsembl
rs1474111055908S>GgnomAD
rs1391513028908S>NgnomAD
TCGA novel909G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1188722292912G>RgnomAD
rs755605986913I>VExAC
TOPMed
gnomAD
COSV51974221
rs751001344
914P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs751001344914P>RVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1805093585914P>SEnsembl
rs541812228916R>*1000Genomes
ExAC
TOPMed
gnomAD
rs541812228916R>G1000Genomes
ExAC
TOPMed
gnomAD
rs919532275916R>QgnomAD
COSV99313474917T>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel918V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV51969852
COSV99314669
rs530042951
918V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
1000Genomes
ExAC
dbSNP
gnomAD
rs759578750920E>DExAC
gnomAD
rs146963652920E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
dbSNP
rs773180572921W>CExAC
gnomAD
rs1554446949923E>ATOPMed
gnomAD
rs1554446949923E>GTOPMed
gnomAD
rs141196081923E>K1000Genomes
ExAC
TOPMed
gnomAD
rs141196081923E>Q1000Genomes
ExAC
TOPMed
gnomAD
rs748919069924S>AExAC
rs2116607287925I>MEnsembl
rs1371801556925I>TgnomAD
rs1427742183925I>VgnomAD
rs138715519926R>CESP
ExAC
TOPMed
gnomAD
CM1512494
COSV51971277
rs138715519
926R>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
NCI-TCGA Cosmic
ESP
ExAC
TOPMed
gnomAD
rs201517649926R>H1000Genomes
ExAC
TOPMed
gnomAD
rs201517649926R>P1000Genomes
ExAC
TOPMed
gnomAD
rs138715519926R>SESP
ExAC
TOPMed
gnomAD
rs745352332927M>VExAC
TOPMed
gnomAD
rs1805090487928K>ETOPMed
rs1586575626928K>NEnsembl
COSV51969426
rs781780617
929R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs201365734929R>H1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV99313516930Y>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel930Y>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs747457918931I>LExAC
TOPMed
gnomAD
rs1805089338934F>STOPMed
gnomAD
rs1277477714934F>VgnomAD
COSV51977309934F>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs752900413935H>QVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs765474060936S>*ExAC
TOPMed
gnomAD
rs1287929809936S>AgnomAD
COSV51972385
rs765474060
936S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs1287929809936S>PgnomAD
COSV99313595937A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1407825756938G>ETOPMed
gnomAD
rs1805088030938G>RTOPMed
rs1472955372942M>KTOPMed
gnomAD
rs1472955372942M>RTOPMed
gnomAD
rs753912953942M>VExAC
gnomAD
rs1805087262943E>DgnomAD
rs1162277611943E>QTOPMed
gnomAD
rs1308613660944C>RgnomAD
rs1423404234944C>YgnomAD
rs146015036945V>LESP
ExAC
TOPMed
gnomAD
rs1166389916947E>DgnomAD
rs1805086597947E>QTOPMed
rs774299123948L>PExAC
gnomAD
rs775057203950A>DExAC
gnomAD
rs762781363950A>PExAC
TOPMed
gnomAD
rs762781363950A>SExAC
TOPMed
gnomAD
COSV51968574
rs762781363
950A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs1805085858951E>GgnomAD
rs1805085919951E>KTOPMed
rs1805085919951E>QTOPMed
rs760208570952D>GExAC
gnomAD
rs760208570952D>VExAC
gnomAD
rs773648089953L>QExAC
rs748538824954T>MExAC
TOPMed
gnomAD
COSV99313397955Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel955Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs142650387957G>E1000Genomes
ExAC
TOPMed
gnomAD
rs768961042957G>RExAC
gnomAD
rs61732998959T>I1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61732998959T>K1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1805080374961P>LTOPMed
rs368297501962G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1805079999963H>NTOPMed
rs1805079688965K>RTOPMed
gnomAD
COSV51975038
rs753594142
966R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs139482378966R>H1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1186849061967I>TgnomAD
rs1805079387967I>VTOPMed
TCGA novel968L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs139639220968L>PESP
ExAC
TOPMed
gnomAD
rs61732993969C>GESP
ExAC
TOPMed
gnomAD
rs61732993969C>RESP
ExAC
TOPMed
gnomAD
rs1199635094971I>TgnomAD
COSV51970668
rs771427284
973G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
rs1247231278975K>ETOPMed
rs1482180615975K>TTOPMed
gnomAD
rs1805078324976D>NTOPMed
rs1257638818977*>CgnomAD
rs1805078241977*>REnsembl
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