Q96NJ3 · ZN285_HUMAN

  • Protein
    Zinc finger protein 285
  • Gene
    ZNF285
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    3/5

Variants

159050100150200250300350400450500550200400

Filter Consequence

Filter Provenance

GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV584081481M>?cosmic curated
rs19712956042I>VTOPMed
rs12299705013K>EgnomAD
rs19712954843K>TgnomAD
rs21232870275Q>*Ensembl
rs13798789785Q>HgnomAD
COSV584113925Q>Kcosmic curated
rs15683897155Q>PEnsembl
rs7643874347R>KExAC
rs7756087529T>IExAC
gnomAD
rs13037312569T>STOPMed
gnomAD
rs76799190010F>LExAC
TOPMed
gnomAD
rs117133123211K>EgnomAD
rs144105683512D>GgnomAD
COSV107374186
rs1971213294
12D>Ncosmic curated
Ensembl
rs138032900913V>AgnomAD
rs142501329614A>TTOPMed
COSV106439992
rs760079357
15V>Gcosmic curated
ExAC
gnomAD
rs197121297115V>LEnsembl
rs156838749516V>AgnomAD
rs74967704517F>IVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV58411216
rs749677045
17F>LVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
COSV10815650618T>Icosmic curated
rs57265035118T>P1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel19K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs14439862919K>RESP
gnomAD
rs197121244820E>KEnsembl
COSV5840926621E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5840805722L>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs120088856422L>VgnomAD
rs159996195323A>TTOPMed
rs127851772824L>PTOPMed
gnomAD
rs76955630324L>VExAC
gnomAD
rs144909560426D>GTOPMed
gnomAD
COSV5840830526D>Hcosmic curated
rs14407794926D>N1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs75493234227K>EExAC
TOPMed
gnomAD
COSV5840907727K>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs11346509228A>SExAC
gnomAD
TCGA novel
rs113465092
28A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
ExAC
gnomAD
COSV5841072628A>Vcosmic curated
COSV5841141029Q>Hcosmic curated
rs123754142629Q>RgnomAD
rs13849598730I>MESP
ExAC
gnomAD
rs7356063931N>K1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs197121128732L>PEnsembl
rs133853445534Q>ETOPMed
gnomAD
TCGA novel35D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TCGA novel36V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV5841058236V>Lcosmic curated
rs76421255137M>IExAC
gnomAD
rs197121088437M>VTOPMed
TCGA novel38L>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV5841053239E>Qcosmic curated
COSV5841170140N>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs115758394041F>LTOPMed
gnomAD
rs125242522742R>KTOPMed
rs125242522742R>TTOPMed
COSV5840861044L>Fcosmic curated
COSV5841070244L>Pcosmic curated
rs76754580545M>LExAC
TOPMed
gnomAD
rs75963602346L>SExAC
TOPMed
gnomAD
COSV5840838547V>*cosmic curated
rs125508655447V>AgnomAD
rs125508655447V>GgnomAD
rs79701874148R>GEnsembl
rs141847168350G>ATOPMed
gnomAD
COSV10815649650G>Ecosmic curated
COSV58409435
rs771876937
50G>Rcosmic curated
ExAC
TOPMed
gnomAD
COSV5840911552K>*cosmic curated
COSV58410027
rs375736113
52K>Ecosmic curated
ESP
ExAC
TOPMed
gnomAD
rs77884490055I>SExAC
rs92408197056L>FTOPMed
gnomAD
rs7491938957N>HEnsembl
rs137829749957N>SgnomAD
COSV5841127158L>Fcosmic curated
rs97942313558L>ITOPMed
gnomAD
COSV10045022459Q>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs11795319160A>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Likely benign (Ensembl)ExAC
TOPMed
dbSNP
gnomAD
COSV58408111
rs117953191
60A>GLikely benign (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
COSV5840916060A>Tcosmic curated
COSV10045014261K>*cosmic curated
rs37322260661K>EESP
ExAC
TOPMed
gnomAD
rs78022277561K>NExAC
gnomAD
COSV58407881
rs114985922
61K>Tcosmic curated
ExAC
gnomAD
rs134675616462G>ETOPMed
gnomAD
rs758437967
COSV58409763
62G>RExAC
TOPMed
gnomAD
cosmic curated
rs75843796762G>WExAC
TOPMed
gnomAD
rs75088917364S>NExAC
gnomAD
rs98568129666L>FTOPMed
COSV58410103
rs765848183
67S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs133331048368Q>KgnomAD
COSV58408162
rs1447375392
69E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs144737539269E>KgnomAD
rs132654606171L>RgnomAD
TCGA novel71L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV5840999872H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5840824174W>*cosmic curated
COSV58408241
COSV58409897
74W>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TCGA novel
rs1599956538
74W>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TOPMed
gnomAD
rs141595336275Q>*TOPMed
gnomAD
rs763818931
COSV105891252
75Q>HExAC
TOPMed
gnomAD
cosmic curated
rs141595336275Q>KTOPMed
gnomAD
COSV5841117675Q>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5841175276I>Tcosmic curated
COSV100450084
rs1173220067
77W>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs57277539777W>S1000Genomes
ExAC
TOPMed
gnomAD
rs15031691878K>EESP
ExAC
TOPMed
gnomAD
rs76700718980R>GExAC
TOPMed
gnomAD
rs7303994080R>K1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV58408840
rs73039940
80R>Mcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel81I>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV5840975581I>Mcosmic curated
rs77420831381I>SExAC
TOPMed
gnomAD
COSV58409878
rs199905905
82R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs123165838482R>WTOPMed
gnomAD
rs74906787283D>HExAC
TOPMed
gnomAD
COSV58411009
rs749067872
83D>Ncosmic curated
ExAC
TOPMed
gnomAD
rs141632340483D>VTOPMed
gnomAD
rs74906787283D>YExAC
TOPMed
gnomAD
COSV58407825
rs773039061
85T>Scosmic curated
ExAC
gnomAD
rs76872911586V>GExAC
TOPMed
gnomAD
rs74721386987S>CExAC
gnomAD
rs74721386987S>GExAC
gnomAD
rs197112591090Y>CTOPMed
gnomAD
rs212326464692V>GEnsembl
COSV58411042
rs140033872
92V>Lcosmic curated
ExAC
TOPMed
gnomAD
COSV58407833
rs140033872
92V>Mcosmic curated
ExAC
TOPMed
gnomAD
COSV5841078093N>Kcosmic curated
rs197112546693N>YTOPMed
COSV105226046
rs757891177
94L>Fcosmic curated
ExAC
TOPMed
gnomAD
rs207827690494L>PTOPMed
rs75789117794L>VExAC
TOPMed
gnomAD
COSV10644004396E>Kcosmic curated
rs197112513997E>GTOPMed
gnomAD
COSV58407830
rs1971125217
97E>Qcosmic curated
TOPMed
COSV10737429298C>Gcosmic curated
COSV105226043
rs754226311
98C>Ycosmic curated
ExAC
TOPMed
gnomAD
COSV5840862499S>Fcosmic curated
rs143200727101H>DVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs1971124759101H>LEnsembl
rs143200727101H>NVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs1971124759101H>REnsembl
COSV107374177104D>Hcosmic curated
COSV58410633104D>Ncosmic curated
rs1362564897104D>YgnomAD
rs767081062105V>DExAC
TOPMed
gnomAD
rs767081062105V>GExAC
TOPMed
gnomAD
COSV58410573107L>Fcosmic curated
COSV58409587
rs1971124369
107L>Pcosmic curated
Ensembl
COSV105225957
rs759084265
107L>Vcosmic curated
ExAC
gnomAD
COSV58407875
rs79240579
108S>Ccosmic curated
ExAC
TOPMed
gnomAD
rs1473337408108S>NTOPMed
gnomAD
rs79240579108S>RExAC
TOPMed
gnomAD
rs369576646109E>GESP
ExAC
TOPMed
gnomAD
COSV58408904110E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs762916428110E>DExAC
TOPMed
gnomAD
rs1971124080110E>GTOPMed
rs1178296861111W>*gnomAD
rs146498662112A>EESP
ExAC
TOPMed
gnomAD
rs773164147112A>PExAC
TOPMed
gnomAD
COSV58411711
rs773164147
112A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs146498662112A>VESP
ExAC
TOPMed
gnomAD
COSV58410523
rs1971123579
113G>Dcosmic curated
Ensembl
rs747906585113G>SExAC
gnomAD
COSV58410012114I>Mcosmic curated
rs1229897917114I>SgnomAD
COSV58409173
rs142665590
114I>Vcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
COSV58408350
rs1379664639
115S>Fcosmic curated
TOPMed
gnomAD
TCGA novel115S>L
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1379664639115S>YTOPMed
gnomAD
COSV58407854117Q>Ecosmic curated
rs1266132283117Q>HgnomAD
rs368824064117Q>LESP
ExAC
TOPMed
gnomAD
rs368824064117Q>PESP
ExAC
TOPMed
gnomAD
rs368824064117Q>RESP
ExAC
TOPMed
gnomAD
rs1221153037118I>NTOPMed
gnomAD
rs1221153037118I>TTOPMed
gnomAD
COSV58410159119S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1440754233120E>ATOPMed
COSV58409006120E>Dcosmic curated
TCGA novel120E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs140316520121N>K1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs779177396121N>SExAC
gnomAD
COSV100450237
rs538330391
122E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
dbSNP
COSV100450244123N>Kcosmic curated
rs1343448036124Y>CTOPMed
gnomAD
rs201529972125V>L1000Genomes
ExAC
TOPMed
gnomAD
COSV105226036
rs756434989
126V>Acosmic curated
ExAC
TOPMed
gnomAD
rs1406417881126V>IgnomAD
COSV100449912128A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1163281676128A>VgnomAD
rs1307536485129I>TgnomAD
rs1568385083129I>VEnsembl
rs1971122037130I>NTOPMed
rs1599956191132N>SEnsembl
rs1478986817133Q>EgnomAD
rs1229855885133Q>RTOPMed
rs753070130134D>GExAC
TOPMed
gnomAD
rs1264961660134D>NTOPMed
gnomAD
rs2123264042135I>MVariant of uncertain significance (Ensembl)Ensembl
rs767187069135I>VExAC
gnomAD
rs754634530136T>PExAC
gnomAD
COSV105226033137A>Tcosmic curated
rs751036226137A>VExAC
TOPMed
gnomAD
TCGA novel138W>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs762471401138W>SExAC
gnomAD
rs1568385044139Q>HTOPMed
rs750298852139Q>KLikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs1971121164139Q>REnsembl
rs765085331140S>GExAC
gnomAD
rs145772874140S>N1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1366388543140S>RTOPMed
gnomAD
rs1599956099142T>ITOPMed
rs1295528325143Q>HgnomAD
rs375074313143Q>K1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV100450130143Q>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100449848
rs372780405
146T>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
dbSNP
gnomAD
rs372780405146T>NESP
ExAC
gnomAD
rs1411338361147P>LTOPMed
gnomAD
rs1473009849148E>KTOPMed
gnomAD
rs1473009849148E>QTOPMed
gnomAD
rs759794651149S>*ExAC
TOPMed
gnomAD
COSV99044154
rs759794651
149S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs759794651149S>WExAC
TOPMed
gnomAD
rs749384507150W>*ExAC
gnomAD
COSV107374153150W>Rcosmic curated
rs1971120156152K>NTOPMed
gnomAD
COSV58410224
rs111667509
154N>Kcosmic curated
ExAC
gnomAD
COSV100450050154N>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1467527305154N>TgnomAD
rs770264097155I>MExAC
gnomAD
rs1014615239155I>TTOPMed
gnomAD
rs1971119859155I>VTOPMed
gnomAD
rs113605259156M>RExAC
TOPMed
gnomAD
rs113605259156M>TExAC
TOPMed
gnomAD
rs1160376576156M>VgnomAD
rs1599955991157T>NTOPMed
gnomAD
TCGA novel158E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs533729385158E>G1000Genomes
ExAC
TOPMed
gnomAD
rs1192470410158E>KTOPMed
gnomAD
rs1252362171159P>STOPMed
gnomAD
rs1252362171159P>TTOPMed
gnomAD
TCGA novel160Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs751163130162S>FExAC
TOPMed
gnomAD
COSV100449804
rs779695369
163Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs779695369163Q>EExAC
TOPMed
gnomAD
COSV108156528163Q>Hcosmic curated
COSV105226022
rs2123263621
164G>Rcosmic curated
Ensembl
COSV100449969165R>Icosmic curated
rs139710134166Y>CESP
TOPMed
gnomAD
TCGA novel167K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV58409743
rs765204241
168G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
dbSNP
gnomAD
rs1971118364168G>RTOPMed
rs1229794325170Y>HTOPMed
gnomAD
COSV58409544171M>Lcosmic curated
rs1333836362171M>TTOPMed
gnomAD
rs761703183171M>VExAC
TOPMed
gnomAD
COSV58409581172E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV58408494173E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100449839
rs1267144616
173E>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
rs368793630173E>KESP
ExAC
TOPMed
gnomAD
rs1401512817174K>RTOPMed
gnomAD
rs376769237176Y>DVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376769237176Y>HVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145710160178R>C1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145710160178R>G1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV100449973
rs773215916
178R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs773215916178R>PExAC
TOPMed
gnomAD
rs145710160178R>S1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs770305554180Q>*ExAC
TOPMed
gnomAD
COSV58407805180Q>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV58408555181H>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1370568669181H>RTOPMed
gnomAD
COSV105225999182D>Ncosmic curated
rs1191701226183D>NgnomAD
COSV58409570
rs748561574
184S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs781733181184S>RExAC
gnomAD
rs1195047197185L>VTOPMed
gnomAD
rs140177640186S>N1000Genomes
ExAC
gnomAD
rs147525213186S>R1000Genomes
ExAC
TOPMed
gnomAD
rs143238843187W>*ESP
ExAC
rs1211788711188T>AgnomAD
rs778248644189S>*ExAC
gnomAD
COSV100449959189S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1971116138190C>*gnomAD
rs148342841190C>G1000Genomes
ExAC
TOPMed
gnomAD
rs148342841190C>R1000Genomes
ExAC
TOPMed
gnomAD
rs144514275190C>Y1000Genomes
ExAC
gnomAD
rs764135758191D>VExAC
gnomAD
COSV58410353192H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs755969399193H>LExAC
gnomAD
rs902316370193H>QTOPMed
gnomAD
rs755969399193H>RExAC
gnomAD
rs1971115675194E>KTOPMed
rs1971115675194E>QTOPMed
COSV58407891
rs1971115596
195S>Fcosmic curated
gnomAD
rs752599169196Q>HExAC
TOPMed
gnomAD
COSV105891259197E>*cosmic curated
rs766688541197E>KExAC
gnomAD
rs1971115325198C>REnsembl
rs751453344198C>YEnsembl
rs1282600626199K>ETOPMed
gnomAD
rs1374344605199K>IgnomAD
COSV58408071200G>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV58411766
rs140032194
200G>Ecosmic curated
Ensembl
rs763126590201E>GExAC
gnomAD
COSV100449886202D>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100449961
rs773513335
203P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs773513335203P>RExAC
gnomAD
rs1180980256203P>SgnomAD
rs1180980256203P>TgnomAD
rs533076425204G>SExAC
TOPMed
gnomAD
rs1971114347205R>GTOPMed
gnomAD
rs761964602206H>DExAC
gnomAD
rs1971114101206H>LEnsembl
rs761964602206H>YExAC
gnomAD
rs1971114041207P>ATOPMed
COSV58409473
rs1278422324
207P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs1971113903208S>GTOPMed
gnomAD
rs2571089208S>I1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_057972
rs2571089
208S>NUniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2571089208S>T1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372299793209C>*1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1351478324209C>YgnomAD
rs1323910797210G>AgnomAD
rs551385384210G>RTOPMed
gnomAD
rs551385384210G>WTOPMed
gnomAD
rs771679800211K>RExAC
TOPMed
gnomAD
rs765286491213L>FTOPMed
rs745464239214G>DExAC
gnomAD
COSV58408412215M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1050184566215M>KTOPMed
rs1971113054215M>VTOPMed
rs1310690385216K>*gnomAD
rs1383470157216K>TgnomAD
COSV58408096217S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV58407943
rs187757032
218T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV58411348220E>Dcosmic curated
rs60800862220E>G1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs767382640221K>QExAC
TOPMed
gnomAD
rs973038894221K>RTOPMed
gnomAD
COSV100449874
rs775371839
222R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
COSV58408265
rs750553123
222R>Hcosmic curated
ExAC
TOPMed
gnomAD
COSV58410070223N>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100449953
rs182902713
224A>Vcosmic curated
1000Genomes
ExAC
gnomAD
rs910030953225A>STOPMed
gnomAD
rs1971111713225A>VTOPMed
rs1489781704226H>DTOPMed
gnomAD
COSV104640398226H>Ycosmic curated
rs1274319947227V>ATOPMed
gnomAD
COSV58408938227V>Lcosmic curated
rs1233125913228L>*TOPMed
gnomAD
rs566750935229P>T1000Genomes
ExAC
TOPMed
gnomAD
rs1229112328231P>HgnomAD
COSV104640378231P>Lcosmic curated
rs1291068229231P>SgnomAD
COSV58411479231P>Tcosmic curated
rs373787402233P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Likely benign (Ensembl)ExAC
TOPMed
dbSNP
gnomAD
rs373787402233P>TLikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs2123262568234C>YEnsembl
rs750087619236N>DgnomAD
rs1379999698237C>YgnomAD
rs951767118238G>ATOPMed
gnomAD
rs951767118238G>ETOPMed
gnomAD
TCGA novel239V>G
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1480438109239V>LTOPMed
gnomAD
rs1480438109239V>MTOPMed
gnomAD
COSV107374163240A>Gcosmic curated
rs776001232240A>PExAC
TOPMed
gnomAD
rs776001232240A>SExAC
TOPMed
gnomAD
COSV100449995240A>Tcosmic curated
rs867604553240A>VTOPMed
rs1485082108241F>LTOPMed
rs1326485239243D>GTOPMed
gnomAD
rs772368639244D>VExAC
gnomAD
rs746252493245T>IExAC
TOPMed
gnomAD
rs746252493245T>RExAC
TOPMed
gnomAD
COSV107374168
rs1971109974
247P>Lcosmic curated
gnomAD
COSV105226047247P>Scosmic curated
rs990870614248H>DTOPMed
gnomAD
rs1372696154248H>QVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV58408040
rs1475836528
248H>Rcosmic curated
gnomAD
rs990870614248H>YTOPMed
gnomAD
COSV58408034
rs1191167563
249V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
dbSNP
gnomAD
TCGA novel249V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV100449829250H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV58410589251H>Ycosmic curated
COSV100449909
rs1190467719
252S>Ncosmic curated
gnomAD
COSV104640376256G>Ecosmic curated
rs1433309031
COSV58409207
256G>RTOPMed
gnomAD
cosmic curated
COSV58409634257E>Kcosmic curated
COSV58409634257E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV105226060258K>*cosmic curated
rs1262047424258K>EgnomAD
rs547013878258K>N1000Genomes
ExAC
gnomAD
COSV58410752259S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1213548529259S>FTOPMed
gnomAD
rs1213548529259S>YTOPMed
gnomAD
rs1971108989260Y>CEnsembl
COSV100449888261K>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100449991262C>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1971108919262C>YEnsembl
COSV58411146263D>Ncosmic curated
COSV58411146263D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs777467484265Y>CExAC
TOPMed
gnomAD
COSV100449966266G>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs769461458266G>AExAC
TOPMed
gnomAD
COSV58409466
rs769461458
266G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs2123262183267K>EEnsembl
COSV58408334267K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1035110181268N>ITOPMed
rs1971108512268N>KTOPMed
COSV58409659269F>Lcosmic curated
rs2123262162271Q>EEnsembl
COSV105891222272S>Icosmic curated
rs1269228266273Q>EgnomAD
COSV58410999274D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV58409012275L>Fcosmic curated
rs1971108372276I>TTOPMed
rs372613459277V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs754661432278H>RExAC
gnomAD
COSV100449987278H>Ycosmic curated
rs2123262094279C>REnsembl
rs1971108028279C>YTOPMed
COSV107374170282H>Dcosmic curated
COSV58411255283S>Fcosmic curated
COSV58408440
COSV58409366
284G>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV58409366284G>Dcosmic curated
COSV58409481
rs61358479
285K>Ecosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1219933631287P>ATOPMed
gnomAD
COSV58410399
rs1166354512
287P>Lcosmic curated
gnomAD
COSV100449834
rs146930422
288Y>Ccosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1395692056289E>DTOPMed
gnomAD
COSV58410055289E>Kcosmic curated
rs760760025290F>IExAC
gnomAD
rs760760025290F>VExAC
gnomAD
rs1971107231291H>DTOPMed
COSV100449965292E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs531028922292E>K1000Genomes
ExAC
gnomAD
COSV105891258292E>Qcosmic curated
COSV105226024293W>*cosmic curated
rs1183075800294P>STOPMed
gnomAD
rs1437598914295M>LTOPMed
gnomAD
rs1010778506295M>RTOPMed
gnomAD
rs1437598914295M>VTOPMed
gnomAD
rs867041174296G>CTOPMed
gnomAD
rs867041174296G>STOPMed
gnomAD
rs1193650102297C>YgnomAD
rs1192495569298K>RTOPMed
rs759810632299Q>EExAC
TOPMed
gnomAD
COSV58409501300S>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1472026577300S>NTOPMed
gnomAD
COSV58408322
rs1413850790
300S>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs1280356035301S>*gnomAD
rs1971106205301S>AEnsembl
rs1280356035301S>LgnomAD
rs770460274302D>EExAC
TOPMed
gnomAD
rs774827964302D>HExAC
TOPMed
gnomAD
COSV58410308302D>Vcosmic curated
rs1470580181303L>IgnomAD
rs773023493304P>HExAC
gnomAD
rs773023493304P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
dbSNP
gnomAD
COSV58408282
rs368902312
304P>Scosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1334889396305R>KTOPMed
gnomAD
COSV58410005307Q>*cosmic curated
rs1436771671307Q>EgnomAD
COSV100450115
COSV58410005
307Q>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV58409394308K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1173142268309V>LgnomAD
COSV105226023310S>Fcosmic curated
rs781270913310S>PExAC
gnomAD
rs746754563311S>LExAC
TOPMed
gnomAD
rs541504637312G>E1000Genomes
ExAC
gnomAD
TCGA novel312G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV58407905313D>Ecosmic curated
rs777979450313D>GExAC
TOPMed
gnomAD
rs754004084313D>HExAC
gnomAD
rs754004084313D>NExAC
gnomAD
rs777979450313D>VExAC
TOPMed
gnomAD
COSV58408173314K>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1971104301316Y>CTOPMed
rs1461075650318C>STOPMed
gnomAD
COSV100449806
rs1461075650
318C>Ycosmic curated
TOPMed
gnomAD
rs1971104113319K>*TOPMed
gnomAD
COSV58411542320E>*cosmic curated
rs867666998320E>AEnsembl
COSV58407985320E>Kcosmic curated
rs756184719320E>QExAC
TOPMed
gnomAD
rs752836056321C>RExAC
gnomAD
rs752836056321C>SExAC
gnomAD
rs1286273588321C>WgnomAD
rs1971103777321C>YEnsembl
rs767888910322G>SExAC
gnomAD
rs1971103564323K>REnsembl
COSV58408828324G>Acosmic curated
rs1971103506324G>STOPMed
COSV58409124325F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1170109038325F>VgnomAD
COSV58410736326R>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs752039631326R>SExAC
gnomAD
COSV100449808
rs766718884
327R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV58408327
rs140349335
327R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs772929619328S>NLikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs151191161328S>RESP
ExAC
TOPMed
gnomAD
rs1253583973329S>ATOPMed
gnomAD
COSV58407935
COSV58408858
rs1346971028
329S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
COSV58408858329S>Ycosmic curated
COSV58411206330S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV58408731
rs1971102659
331L>Fcosmic curated
gnomAD
rs1474093235331L>PTOPMed
gnomAD
COSV58411130332H>Dcosmic curated
rs768446748332H>RExAC
gnomAD
COSV58411130
COSV58411330
rs2123261351
332H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
rs151111866334H>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141120391334H>R1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775309426334H>YExAC
gnomAD
rs1418194995335H>RTOPMed
gnomAD
COSV58409602
rs201861898
336R>*cosmic curated
ExAC
TOPMed
gnomAD
rs201861898336R>GExAC
TOPMed
gnomAD
rs1481989595336R>LgnomAD
COSV58408848
rs1481989595
336R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
gnomAD
TCGA novel337V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1568384093338H>REnsembl
COSV58411460338H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1971101749339T>ATOPMed
rs781295529339T>RExAC
gnomAD
rs1599954654
COSV58409459
340G>EEnsembl
cosmic curated
rs1266163812340G>RTOPMed
gnomAD
rs1599954654340G>VEnsembl
rs1971101291341E>*TOPMed
rs1971101291341E>QTOPMed
rs1971101222341E>VTOPMed
rs1599954636342M>IEnsembl
COSV58409416342M>Kcosmic curated
rs200028464343P>L1000Genomes
ExAC
TOPMed
gnomAD
rs200028464343P>R1000Genomes
ExAC
TOPMed
gnomAD
rs1568384059347D>EEnsembl
COSV58409715
rs202025427
347D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Likely benign (Ensembl)NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs145215668348E>ALikely benign (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs145215668348E>GLikely benign (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs1364201580348E>KVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1364201580348E>QVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs145215668348E>VLikely benign (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs764961346349C>Y1000Genomes
ExAC
gnomAD
rs1462307043350G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs143777900350G>W1000Genomes
ExAC
TOPMed
gnomAD
COSV104401666351K>Ecosmic curated
rs1971099959351K>RTOPMed
rs1421636336352G>ETOPMed
gnomAD
rs1163795453352G>RgnomAD
COSV58411422352G>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100450173
rs1421168701
353F>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
COSV58411585
rs1357628431
354G>Acosmic curated
TOPMed
gnomAD
COSV58408515
rs763608904
354G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs1971099423355F>YEnsembl
rs760109612356R>SExAC
gnomAD
rs1971099281357S>*TOPMed
COSV104640396357S>Lcosmic curated
rs1215415569359L>ITOPMed
gnomAD
rs185751610360C>FExAC
TOPMed
gnomAD
COSV58408228
rs185751610
360C>Scosmic curated
ExAC
TOPMed
gnomAD
COSV58410438
rs185751610
360C>Ycosmic curated
ExAC
TOPMed
gnomAD
COSV58411624361I>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1237801548361I>STOPMed
gnomAD
COSV58411624361I>Vcosmic curated
rs376945458362H>LESP
ExAC
TOPMed
gnomAD
rs376945458362H>RESP
ExAC
TOPMed
gnomAD
COSV100449980362H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1971098555363Q>HTOPMed
rs1184690393364G>REnsembl
rs1389547366364G>VTOPMed
rs1169229030366H>RTOPMed
gnomAD
rs1351826413366H>YEnsembl
rs1214119010367T>KTOPMed
gnomAD
rs1568383944367T>SEnsembl
COSV100450127368G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV58407859
rs193108868
368G>Vcosmic curated
Ensembl
rs755016704369K>*ExAC
TOPMed
gnomAD
rs755016704369K>QExAC
TOPMed
gnomAD
rs1333791321369K>RTOPMed
TCGA novel371P>A
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1568383924371P>LEnsembl
rs747122380372Y>CExAC
gnomAD
rs780594735373K>NExAC
gnomAD
rs145353994374C>SExAC
TOPMed
gnomAD
COSV58408462375E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs750785729376E>GExAC
gnomAD
rs554831372376E>Q1000Genomes
rs765655978377C>FExAC
TOPMed
gnomAD
rs765655978377C>YExAC
TOPMed
gnomAD
rs372504763378G>AESP
ExAC
TOPMed
gnomAD
COSV106440000378G>Wcosmic curated
rs1229789042379K>ETOPMed
TCGA novel379K>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs753470924380G>AVariant of uncertain significance (Ensembl)ExAC
gnomAD
TCGA novel380G>A
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV108156512380G>Dcosmic curated
COSV58410619
rs369340847
380G>Rcosmic curated
TOPMed
gnomAD
rs369340847380G>STOPMed
gnomAD
rs753470924380G>VVariant of uncertain significance (Ensembl)ExAC
gnomAD
COSV58410609382D>Ecosmic curated
COSV100450073382D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs760220764383Q>*ExAC
gnomAD
COSV58410297
rs760220764
383Q>Ecosmic curated
ExAC
gnomAD
rs774912290383Q>HVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs759433407385S>CExAC
gnomAD
rs767410872385S>PExAC
TOPMed
gnomAD
COSV104640390385S>Ycosmic curated
rs1199499064386N>DTOPMed
rs770658058386N>KExAC
TOPMed
gnomAD
COSV58408168386N>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV58409689
rs1568383830
387L>Fcosmic curated
Ensembl
COSV107374293387L>Hcosmic curated
COSV58410233388L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs762663358388L>HExAC
rs376376411389V>FExAC
TOPMed
gnomAD
COSV58407814
rs376376411
389V>Icosmic curated
ExAC
TOPMed
gnomAD
rs768815058390H>QExAC
TOPMed
gnomAD
COSV58410097
rs1971095445
390H>Ycosmic curated
TOPMed
gnomAD
TCGA novel391Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
TCGA novel392R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1247189596392R>KTOPMed
gnomAD
rs1247189596392R>TTOPMed
gnomAD
rs978167492393V>ATOPMed
gnomAD
COSV100449983394H>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs747085324394H>YExAC
gnomAD
rs780317759395T>A1000Genomes
ExAC
TOPMed
gnomAD
COSV58410090395T>Icosmic curated
rs772309003396G>RExAC
gnomAD
COSV58407809
rs779574873
397E>Gcosmic curated
ExAC
gnomAD
rs535569015397E>KVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs1971094469399P>LVariant of uncertain significance (Ensembl)Ensembl
COSV58408340
rs1971094325
400Y>Ccosmic curated
Ensembl
rs1250918527401K>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs1971094140402C>*TOPMed
gnomAD
rs777460889402C>FExAC
TOPMed
gnomAD
COSV58409275
rs777460889
402C>Scosmic curated
ExAC
TOPMed
gnomAD
COSV107374182
rs777460889
402C>Ycosmic curated
ExAC
TOPMed
gnomAD
rs755762145403S>GExAC
TOPMed
gnomAD
rs1477104224403S>ITOPMed
gnomAD
rs1477104224403S>NTOPMed
gnomAD
rs752430465404E>GExAC
TOPMed
gnomAD
COSV100450010404E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV58411956405C>*cosmic curated
rs1211764830405C>STOPMed
gnomAD
rs1211764830405C>YTOPMed
gnomAD
rs1022259987406G>CTOPMed
gnomAD
COSV100450014
COSV58408249
406G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1022259987406G>RTOPMed
gnomAD
COSV100450014
COSV58408249
406G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1241759418408C>RgnomAD
rs1388378676408C>WTOPMed
rs766969013409F>CVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV105225998
rs759063416
410S>Icosmic curated
ExAC
TOPMed
gnomAD
rs1328828164411S>*Ensembl
TCGA novel411S>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV108156522413S>Ccosmic curated
COSV58408089413S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV58409152
rs766367743
414V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
COSV100449845415L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV58409522416Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs762791880416Q>EExAC
TOPMed
gnomAD
rs1971092724418H>RTOPMed
COSV105226057418H>Ycosmic curated
rs1374253576420R>KgnomAD
COSV58408424
COSV58411120
rs1301046424
422H>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
COSV58411120422H>Ycosmic curated
rs1028589117423T>KTOPMed
gnomAD
rs1028589117423T>RTOPMed
gnomAD
COSV58410150
rs1210476001
424G>Vcosmic curated
TOPMed
gnomAD
rs1420312932425E>*gnomAD
COSV107374194425E>Kcosmic curated
rs775877675425E>VExAC
TOPMed
gnomAD
COSV58410773427P>Lcosmic curated
rs779552311428Y>HExAC
TOPMed
gnomAD
COSV58409027429R>Kcosmic curated
rs1486503556429R>STOPMed
gnomAD
rs1568383586430C>FEnsembl
rs1048653404431G>A1000Genomes
TOPMed
gnomAD
COSV58409508431G>Ccosmic curated
COSV99044157
rs1048653404
431G>Dcosmic curated
1000Genomes
TOPMed
gnomAD
rs562822636431G>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1294750610432E>*gnomAD
TCGA novel434G>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1971090916436G>DTOPMed
rs948984786437F>ITOPMed
gnomAD
COSV100449982440C>Fcosmic curated
COSV58407874
rs199819861
440C>Scosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs2123259721440C>WEnsembl
rs375719363441T>IESP
ExAC
gnomAD
rs375719363441T>KESP
ExAC
gnomAD
rs147541021442H>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1971090450442H>YgnomAD
rs1455452012443L>FgnomAD
COSV58411028443L>Rcosmic curated
rs754482521444H>QExAC
TOPMed
gnomAD
rs780830539444H>RExAC
TOPMed
gnomAD
rs751126010446H>DExAC
TOPMed
gnomAD
COSV58411190
rs751126010
446H>Ycosmic curated
ExAC
TOPMed
gnomAD
rs766279571447Q>RExAC
TOPMed
gnomAD
rs1261654382448R>GTOPMed
gnomAD
COSV100449960448R>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs550849455449V>I1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel450H>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TCGA novel450H>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1382499546451T>IgnomAD
COSV106439986452G>Rcosmic curated
TCGA novel453E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV58411247
rs1157836973
453E>Kcosmic curated
gnomAD
rs761680295454K>NExAC
gnomAD
rs764892376454K>RExAC
gnomAD
rs1971088479455P>AEnsembl
COSV58407910
rs77661661
455P>Qcosmic curated
ExAC
gnomAD
COSV58410545455P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs759667078456Y>HExAC
gnomAD
rs774614129457K>IExAC
gnomAD
rs1169811826458C>STOPMed
gnomAD
rs1169811826458C>YTOPMed
gnomAD
rs199501382459N>DExAC
TOPMed
gnomAD
rs1971087611460V>MTOPMed
rs749713309461C>FExAC
TOPMed
gnomAD
rs749713309461C>YExAC
TOPMed
gnomAD
TCGA novel462G>E
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV106440029
rs773785531
462G>Rcosmic curated
ExAC
gnomAD
rs1254137429463K>ETOPMed
gnomAD
TCGA novel464D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV58408004
rs150792548
466A>Gcosmic curated
ExAC
TOPMed
gnomAD
COSV58409185
rs150792548
466A>Vcosmic curated
ExAC
TOPMed
gnomAD
rs779387599467Y>CExAC
gnomAD
COSV104640394467Y>Ncosmic curated
COSV58411488468S>Ccosmic curated
rs1971086617468S>GEnsembl
COSV100450007
rs757947468
468S>Ncosmic curated
ExAC
TOPMed
gnomAD
rs757947468468S>TExAC
TOPMed
gnomAD
COSV58410278469S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs765222718469S>TExAC
gnomAD
rs757112464470V>GExAC
gnomAD
COSV108156488471L>Fcosmic curated
rs1971086223471L>REnsembl
rs1555720738472H>REnsembl
rs1971086090472H>YEnsembl
rs1392130621473T>IgnomAD
rs1331165492473T>PgnomAD
COSV100449990474H>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs953963118474H>RTOPMed
COSV58409991475Q>Ecosmic curated
rs753736399475Q>LExAC
gnomAD
rs1971085052476R>ITOPMed
rs1971085052476R>TTOPMed
rs150666364477V>IESP
ExAC
TOPMed
gnomAD
COSV105226059478H>Ycosmic curated
rs367567419480G>AEnsembl
rs141226346480G>R1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV58409214481E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1172443457481E>KTOPMed
gnomAD
rs1971084449482K>QTOPMed
COSV58408405483P>Rcosmic curated
COSV58407961483P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1971084383483P>TTOPMed
COSV58408547
rs766315220
484Y>Ccosmic curated
ExAC
gnomAD
rs774737018484Y>HExAC
TOPMed
gnomAD
rs774737018484Y>NExAC
TOPMed
gnomAD
COSV100450216485K>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs748446707486C>YEnsembl
COSV105225975
rs773590565
487E>*Variant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
rs1387695528487E>GTOPMed
gnomAD
rs773590565487E>KVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs568314396488V>EVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs568314396488V>GVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs1447125576488V>MTOPMed
gnomAD
rs779402878489C>YExAC
TOPMed
gnomAD
rs777017126490G>RExAC
gnomAD
rs746611149491K>NExAC
gnomAD
rs769036416491K>TExAC
TOPMed
gnomAD
rs1568383226492C>REnsembl
rs1330390357494S>GTOPMed
gnomAD
rs757779421494S>IExAC
TOPMed
gnomAD
rs757779421494S>NExAC
TOPMed
gnomAD
COSV58408369495Y>Ccosmic curated
rs1314770684495Y>STOPMed
gnomAD
rs1362865887496S>GTOPMed
gnomAD
COSV104640399
rs745449808
497S>Lcosmic curated
ExAC
TOPMed
gnomAD
rs1296906851498Y>CTOPMed
rs1971082467499F>CEnsembl
rs757302556500H>NExAC
TOPMed
gnomAD
rs1971082151500H>QgnomAD
rs148222760500H>RESP
ExAC
gnomAD
TCGA novel500H>S
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV58409529
rs757302556
500H>Ycosmic curated
ExAC
TOPMed
gnomAD
COSV58408771501L>Scosmic curated
rs1048399109502H>RTOPMed
gnomAD
rs763933371502H>YExAC
TOPMed
gnomAD
TCGA novel503Q>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV58410062503Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs145955464503Q>RESP
ExAC
TOPMed
gnomAD
COSV58409970504R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV105225984504R>Kcosmic curated
TCGA novel505D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs766692418506H>DExAC
TOPMed
gnomAD
rs143574007507I>NLikely benign (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs143574007507I>SLikely benign (Ensembl)ESP
ExAC
TOPMed
gnomAD
COSV107374291
rs143574007
507I>TLikely benign (Ensembl)cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1971081596507I>VTOPMed
TCGA novel509E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV58410198
rs796556378
511P>Qcosmic curated
Ensembl
COSV107374190512Y>*cosmic curated
rs868766369512Y>CTOPMed
gnomAD
rs1463888780512Y>HTOPMed
COSV58410452513K>Tcosmic curated
rs1237502689514C>YgnomAD
COSV104640380515D>Ecosmic curated
rs765628352515D>GExAC
gnomAD
rs762264678519K>*ExAC
gnomAD
COSV58411183519K>Ecosmic curated
COSV58409110519K>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs138001522520G>D1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1440665904520G>RgnomAD
rs1440665904520G>SgnomAD
rs138001522520G>V1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV58408843
rs372788610
523R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs771813849523R>WExAC
gnomAD
rs780845025526D>GExAC
TOPMed
gnomAD
COSV58408922526D>Ncosmic curated
rs148896964528N>D1000Genomes
ExAC
TOPMed
gnomAD
COSV58409093
rs148896964
528N>Hcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs796348963528N>REnsembl
COSV58409085
rs138614800
528N>Scosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs369555191529V>IESP
ExAC
TOPMed
gnomAD
COSV58410994530H>Qcosmic curated
rs1457051687530H>YgnomAD
rs752598156531L>FExAC
TOPMed
gnomAD
rs543718218533V>I1000Genomes
ExAC
gnomAD
rs1971078869534H>PEnsembl
COSV58408482534H>Ycosmic curated
rs1971078753535T>ATOPMed
rs758684323535T>KExAC
TOPMed
gnomAD
rs758684323535T>RExAC
TOPMed
gnomAD
VAR_057973
rs12610859
536G>RUniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1971078283536G>VgnomAD
rs1243788224537E>DTOPMed
gnomAD
rs1192857833538R>KgnomAD
rs1464292973538R>SgnomAD
rs765248082538R>WExAC
TOPMed
gnomAD
COSV100449988539P>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs761890567539P>LExAC
TOPMed
gnomAD
rs2123257981539P>SEnsembl
rs1971077608540Y>*TOPMed
rs561026253540Y>C1000Genomes
ExAC
gnomAD
TCGA novel541K>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1568382838542C>*Ensembl
rs775964798542C>FExAC
rs541224546542C>R1000Genomes
ExAC
gnomAD
rs775964798542C>YExAC
COSV58410189544A>Tcosmic curated
rs868086440544A>VTOPMed
gnomAD
COSV100450022546G>Ccosmic curated
rs1568382824546G>VEnsembl
rs1434945889547K>NgnomAD
COSV58407992548G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1971076830550S>NEnsembl
rs1971076759550S>REnsembl
rs1971076677551R>CEnsembl
COSV58409256
rs772355334
551R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs772355334551R>LExAC
TOPMed
gnomAD
rs573229458552N>T1000Genomes
ExAC
gnomAD
COSV100450102
rs867815076
553S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
dbSNP
rs770502344554Y>HExAC
TOPMed
gnomAD
COSV107374151555L>Icosmic curated
COSV58408289
rs777841874
556L>Fcosmic curated
ExAC
gnomAD
COSV58408289
COSV58411418
556L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100449949557A>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs376214387557A>TESP
ExAC
TOPMed
gnomAD
COSV58408569
rs747862770
557A>Vcosmic curated
ExAC
TOPMed
gnomAD
rs750597136558H>QExAC
gnomAD
rs754747120558H>RExAC
gnomAD
rs780997664558H>YExAC
TOPMed
gnomAD
rs779110653559Q>KExAC
gnomAD
COSV58409956560R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs147054008562H>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147054008562H>R1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753168258563I>RExAC
gnomAD
rs1971075140563I>VEnsembl
COSV58407925567Q>Ecosmic curated
rs767865868567Q>LExAC
TOPMed
gnomAD
rs767865868567Q>RExAC
TOPMed
gnomAD
TCGA novel568Y>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV58411231569T>Pcosmic curated
rs1836280570H>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369315997570H>YESP
ExAC
TOPMed
gnomAD
rs762533427573R>CExAC
TOPMed
gnomAD
rs147871364573R>HExAC
TOPMed
gnomAD
COSV100449842
rs147871364
573R>Pcosmic curated
ExAC
TOPMed
gnomAD
rs748067717574G>AExAC
gnomAD
rs748067717574G>EExAC
gnomAD
rs878908012575K>RTOPMed
gnomAD
rs746846347576D>EExAC
gnomAD
COSV106440030577L>Fcosmic curated
COSV100450276577L>Rcosmic curated
COSV104640388
rs148795043
578L>Pcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs148795043578L>R1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV100450123578L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs145386319579T>SESP
rs1599952931580H>LEnsembl
COSV58410516580H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TCGA novel581Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs150036734582R>K1000Genomes
ExAC
TOPMed
gnomAD
rs1481763586583L>VgnomAD
rs749334484584H>RVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV105226034585E>*cosmic curated
COSV58408693
rs149238831
585E>Kcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel586Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV100449975587R>Gcosmic curated
rs1971072732587R>KTOPMed
COSV100450005
COSV58409951
588E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1482081592588E>DgnomAD
COSV100450005588E>Kcosmic curated
rs1305171460588E>QEnsembl
rs1568382630589T>ATOPMed
rs1971072226591*>QEnsembl
TCGA novel591*>Y
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
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