Q8N972 · ZN709_HUMAN

  • Protein
    Zinc finger protein 709
  • Gene
    ZNF709
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    3/5

Variants

164150100150200250300350400450500550600
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs2004004663S>PEnsembl
rs3707029425V>IESP
ExAC
TOPMed
gnomAD
COSV1011720527E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs19705752308D>AgnomAD
rs11852108328D>EgnomAD
COSV1011721368D>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs75190610611V>GExAC
gnomAD
rs124296281812N>DgnomAD
rs197057509812N>KTOPMed
rs119874723412N>SgnomAD
rs78031837513F>LExAC
gnomAD
rs128944292913F>LgnomAD
rs75893834715Q>HExAC
gnomAD
COSV6719409616E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV67194304
COSV67196188
18W>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs159963203418W>GEnsembl
rs76368126919A>SExAC
gnomAD
rs197057479923P>SgnomAD
COSV101172277
rs1363601768
24S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs76713961525Q>*ExAC
TOPMed
gnomAD
rs75913211726K>RExAC
gnomAD
rs134311603227K>ETOPMed
gnomAD
rs134311603227K>QTOPMed
gnomAD
rs142583827029Y>CgnomAD
COSV67195774
COSV67196069
rs1970574499
29Y>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
rs135452526430R>*gnomAD
rs20145232133M>T1000Genomes
gnomAD
rs37485650434Q>RESP
ExAC
gnomAD
COSV6719467635E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs197057432436T>ITOPMed
gnomAD
rs119899400837F>CgnomAD
TCGA novel38V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV6719600639N>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV6719466539N>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel41A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs127113588442S>FgnomAD
rs120030477743I>VgnomAD
rs119793749144G>EgnomAD
rs76615671545E>KExAC
TOPMed
gnomAD
rs76266840348E>KExAC
gnomAD
rs77300245249E>DExAC
gnomAD
rs76966728550K>EExAC
gnomAD
rs36985667551N>SESP
ExAC
TOPMed
gnomAD
rs133646155152I>MTOPMed
gnomAD
rs140318925052I>VTOPMed
gnomAD
rs197057207554D>ATOPMed
rs20127242554D>EExAC
TOPMed
gnomAD
rs74724473355H>QExAC
TOPMed
gnomAD
rs37770637856K>EESP
TOPMed
gnomAD
rs77592485456K>NExAC
gnomAD
rs86778899357N>TEnsembl
rs159963186958Q>EEnsembl
rs136214495858Q>RgnomAD
rs74617989361K>NExAC
gnomAD
rs156824588761K>REnsembl
rs197057155762L>PgnomAD
rs76178436264S>GExAC
gnomAD
rs128332217465H>NTOPMed
rs197056465667V>ITOPMed
rs197056463068E>QTOPMed
rs197056459469R>GEnsembl
rs77649499669R>SExAC
TOPMed
gnomAD
rs197056452770L>ITOPMed
rs20122432071C>RVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs76060813673R>GExAC
gnomAD
rs197056433673R>SgnomAD
rs77572855174K>RExAC
gnomAD
TCGA novel75E>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs77237267579F>LExAC
gnomAD
rs214498722880G>EEnsembl
TCGA novel83I>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs197056418184S>GgnomAD
rs129803619584S>IgnomAD
rs171021181885Q>RTOPMed
rs20200880686T>S1000Genomes
ExAC
gnomAD
rs156824568587P>LEnsembl
rs134498047088N>HgnomAD
rs56711766390K>N1000Genomes
ExAC
TOPMed
gnomAD
rs74979736191P>AExAC
TOPMed
gnomAD
rs1392856542
TCGA novel
91P>L
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
TOPMed
gnomAD
NCI-TCGA
rs74979736191P>SExAC
TOPMed
gnomAD
TCGA novel92N>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TCGA novel93K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs159963156293K>REnsembl
rs55200733895T>A1000Genomes
ExAC
gnomAD
rs75665615695T>IExAC
gnomAD
rs74647167797T>AExAC
rs74647167797T>SExAC
rs197056366398R>ITOPMed
rs1172393631100K>NgnomAD
rs1970563570101P>LTOPMed
gnomAD
rs1970563522103E>AEnsembl
rs1443209099103E>KEnsembl
rs930447266105S>GTOPMed
gnomAD
rs1267556111106V>MgnomAD
rs1599631541110D>NEnsembl
rs188565094111Y>C1000Genomes
ExAC
TOPMed
gnomAD
rs745881161112M>IExAC
TOPMed
gnomAD
rs921781632112M>VEnsembl
COSV101172325113C>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1379802739114H>LTOPMed
gnomAD
rs1440510363115S>*TOPMed
rs1160704845116S>FEnsembl
rs781441952116S>PEnsembl
TCGA novel119R>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1970563076120H>PTOPMed
rs765071473121M>LExAC
TOPMed
gnomAD
rs1253231439121M>TgnomAD
rs765071473121M>VExAC
TOPMed
gnomAD
COSV67195997
rs757070588
122R>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
COSV101172242
rs947999836
123S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
gnomAD
rs947999836123S>FTOPMed
gnomAD
COSV101172242123S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs753675343125T>AExAC
TOPMed
gnomAD
rs763882660125T>IExAC
gnomAD
rs1970562745129S>AEnsembl
rs878920513132Y>FVariant of uncertain significance (Ensembl)gnomAD
rs752785395133H>QExAC
gnomAD
rs1970562637133H>RTOPMed
rs1568245626136G>REnsembl
rs1390549323136G>VgnomAD
COSV101172202
COSV67194587
rs899117848
137E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
rs1394079903137E>KgnomAD
rs376497348139S>AESP
ExAC
gnomAD
rs2144986925139S>LEnsembl
rs1189735355140Y>CEnsembl
TCGA novel141E>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1970562080141E>QEnsembl
rs771188520142C>FExAC
rs1970561993142C>RgnomAD
rs771188520142C>SExAC
rs2144986874143K>EEnsembl
rs369579383148R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1436367447149F>LgnomAD
COSV67194142
rs773646499
152R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs1199728286152R>QTOPMed
gnomAD
rs770157844153S>NExAC
gnomAD
rs371379809156R>*ESP
ExAC
TOPMed
gnomAD
COSV67194117
rs779513337
156R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs1345820683157I>TTOPMed
gnomAD
rs1970561229158H>NTOPMed
gnomAD
rs771624762158H>RExAC
gnomAD
COSV67195331160R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs562857083161T>S1000Genomes
ExAC
rs747167268162H>PEnsembl
rs1311147057169K>EgnomAD
rs1970560702170C>REnsembl
rs758676680172Q>*Ensembl
rs2144986708173C>REnsembl
rs1203397797174G>SgnomAD
rs1970560460174G>VEnsembl
rs1970560425175K>ETOPMed
rs777657184176A>VExAC
gnomAD
rs374882516177F>LESP
TOPMed
rs1157554503178S>ITOPMed
gnomAD
rs1162402979178S>RTOPMed
gnomAD
rs1157554503178S>TTOPMed
gnomAD
rs1970560175179W>*TOPMed
rs752731920180P>SExAC
gnomAD
rs752731920180P>TExAC
gnomAD
rs1179607027181S>NTOPMed
gnomAD
rs1281939154185I>TgnomAD
rs1970560011185I>VTOPMed
gnomAD
rs1212514835186H>RTOPMed
gnomAD
COSV101172108
COSV67194776
COSV67194861
187E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV101172108
COSV67194776
COSV67194861
rs944461274
187E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
dbSNP
COSV101172108
COSV67194776
COSV67194861
187E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV67194825
rs759621924
188R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs911555397189T>IEnsembl
COSV101172203193E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs550923838193E>K1000Genomes
ExAC
TOPMed
gnomAD
rs550923838193E>Q1000Genomes
ExAC
TOPMed
gnomAD
COSV67194598195P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs753172455195P>SEnsembl
rs1240546407198C>YgnomAD
rs763264478199K>QExAC
TOPMed
rs773414903199K>TExAC
gnomAD
COSV67195373200E>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV67195404202G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV67195088205F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1332855283207Y>CTOPMed
gnomAD
rs537621032212R>*Ensembl
rs762291246212R>LExAC
TOPMed
gnomAD
TCGA novel212R>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs762291246212R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs1449769454213G>RgnomAD
rs1272573251214H>LgnomAD
rs769159349215M>LExAC
gnomAD
rs769159349215M>VExAC
gnomAD
COSV101172206
COSV67194211
216R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV101172206
COSV67194211
216R>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel216R>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1398482487216R>TVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV67195938217M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1568245536217M>LEnsembl
rs745326480217M>TExAC
TOPMed
gnomAD
rs1970558942219T>ITOPMed
gnomAD
rs1970558942219T>RTOPMed
gnomAD
rs778510510221E>QExAC
gnomAD
rs1970558761223P>STOPMed
rs1970558694225K>IgnomAD
rs770452098225K>QExAC
gnomAD
rs1568245520226C>YEnsembl
rs376255683228E>DESP
ExAC
TOPMed
gnomAD
rs749011851228E>QExAC
gnomAD
rs7259240229C>*1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1970558271230G>AEnsembl
rs752544330230G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs781217705232T>MExAC
TOPMed
gnomAD
rs758523865234S>GExAC
TOPMed
gnomAD
rs1599631269234S>IEnsembl
rs1269251232237S>TgnomAD
COSV67195905
rs750712959
240R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
COSV67194255
rs970181772
240R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs1599631259241N>HEnsembl
rs1970557826241N>KEnsembl
rs765577750242H>YExAC
TOPMed
gnomAD
COSV67194643
rs762103376
244R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
COSV67194292246H>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs375309574248G>VESP
ExAC
TOPMed
gnomAD
COSV67194923251P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1167304307252Y>CgnomAD
rs1970557631252Y>DEnsembl
TCGA novel253E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs764537968254C>GExAC
TOPMed
gnomAD
rs764537968254C>RExAC
TOPMed
gnomAD
rs1414117159256Q>*TOPMed
gnomAD
rs1419016150258G>RTOPMed
gnomAD
rs202019372259K>RESP
TOPMed
gnomAD
COSV101172204260A>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs761205362260A>TExAC
TOPMed
gnomAD
rs770525980262R>SExAC
gnomAD
rs748880063263Y>NExAC
gnomAD
rs769584310264Y>HExAC
gnomAD
rs1970557176265Q>REnsembl
rs1322118361266T>IgnomAD
rs1322118361266T>SgnomAD
COSV67194524268Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs754932447269I>LExAC
TOPMed
gnomAD
rs754932447269I>VExAC
TOPMed
gnomAD
COSV67195002
rs1970557029
272R>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
gnomAD
COSV67195002272R>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs747013708273T>IExAC
TOPMed
gnomAD
rs779981155275T>AExAC
gnomAD
rs1342567510275T>NTOPMed
gnomAD
COSV67194193
COSV67194671
277E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1319173487277E>GTOPMed
gnomAD
COSV67194193
COSV67194671
rs148352272
277E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1970556718278K>NTOPMed
rs183502634281Q>P1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs183502634281Q>R1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765389353282C>RExAC
gnomAD
rs1354322021283K>MTOPMed
gnomAD
rs200179001284Q>EESP
ExAC
TOPMed
gnomAD
rs1599631197285C>REnsembl
rs1424670021286G>CgnomAD
rs1970556339288A>GTOPMed
rs370467287288A>TESP
ExAC
gnomAD
TCGA novel291C>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1970556254291C>GTOPMed
rs192754953292P>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1970556170293T>ATOPMed
rs1970556138293T>ITOPMed
gnomAD
COSV101172192293T>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV101172227294S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1275956430294S>PgnomAD
COSV67195698
rs1262248584
296R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
COSV67194996
rs765803971
296R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs1970555917297S>NTOPMed
rs1970555890298H>YTOPMed
rs762466645300R>GExAC
gnomAD
TCGA novel300R>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1465110206301I>TgnomAD
rs772871511303T>AExAC
gnomAD
rs1172725012303T>ITOPMed
gnomAD
rs370178228304G>EESP
ExAC
TOPMed
gnomAD
COSV101172051305E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs747841809305E>AExAC
TOPMed
gnomAD
rs866934047305E>KEnsembl
rs866535592306K>EEnsembl
rs776541778307P>TExAC
gnomAD
rs1970555496308Y>CgnomAD
COSV101172050309K>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs768627385310C>YExAC
gnomAD
rs1568245424311K>EEnsembl
rs746911952311K>RExAC
gnomAD
COSV67194537311K>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs867607403312K>EEnsembl
TCGA novel312K>N
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1341548133313C>FTOPMed
gnomAD
rs1297928849313C>RTOPMed
rs1341548133313C>YTOPMed
gnomAD
rs201288232314G>ETOPMed
rs767262465315K>ITOPMed
gnomAD
rs1449518976316A>GTOPMed
gnomAD
TCGA novel316A>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1401253781318S>GgnomAD
rs1970554999320P>RTOPMed
COSV67194926
rs1336335600
320P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
gnomAD
rs758285983321S>RExAC
gnomAD
COSV67194471322S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1970554910323F>CTOPMed
rs1176952052326H>PgnomAD
rs745915577326H>QExAC
gnomAD
rs1970554870326H>YEnsembl
rs201182032328R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2144985867329I>TEnsembl
rs2144985857332G>AEnsembl
rs754110213335P>LExAC
TOPMed
gnomAD
rs754110213335P>RExAC
TOPMed
gnomAD
rs778098951336Y>CExAC
TOPMed
gnomAD
rs1257233275337D>EgnomAD
rs1970554604339K>ETOPMed
gnomAD
rs1287577387340E>KgnomAD
rs1970554520341C>YTOPMed
rs374665299342G>RESP
ExAC
TOPMed
gnomAD
rs1284543795345F>LgnomAD
rs372591892345F>LESP
TOPMed
rs1242694738346I>MgnomAD
rs1314869884347S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs759990833350S>CExAC
TOPMed
gnomAD
rs759990833350S>GExAC
TOPMed
gnomAD
rs201572415350S>NVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs1970554039351Y>CEnsembl
rs1453179041351Y>HgnomAD
rs988597668352R>*TOPMed
gnomAD
COSV67194065
rs764885852
352R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
rs776489888355M>IExAC
TOPMed
gnomAD
rs761542188355M>TExAC
TOPMed
gnomAD
rs768195372356I>LExAC
TOPMed
gnomAD
rs768195372356I>VExAC
TOPMed
gnomAD
rs760464242357M>LExAC
gnomAD
rs1421669369357M>RgnomAD
rs760464242357M>VExAC
gnomAD
rs1970553566358H>RTOPMed
rs1722505119360G>AEnsembl
rs1722505119360G>VEnsembl
rs1437386519361N>KTOPMed
rs775174007361N>SExAC
gnomAD
rs1181896497364Y>HgnomAD
TCGA novel365K>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs772008229366C>*ExAC
TOPMed
gnomAD
rs772008229366C>WExAC
TOPMed
gnomAD
rs1261572703368E>AgnomAD
TCGA novel
rs745848959
372A>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
ExAC
TOPMed
gnomAD
rs745848959372A>GExAC
TOPMed
gnomAD
COSV67195436372A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs745848959372A>VExAC
TOPMed
gnomAD
rs1970552924375C>FEnsembl
rs970340135375C>REnsembl
rs2144985587378S>T1000Genomes
TCGA novel380Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs749507729381I>VExAC
gnomAD
rs1381656887382H>YgnomAD
rs1300195363383E>GgnomAD
rs753066210384R>*ExAC
TOPMed
gnomAD
COSV67194696
rs1305665047
384R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs1970552463389E>GEnsembl
rs755487038392Y>CExAC
TOPMed
gnomAD
rs781448024392Y>NExAC
TOPMed
gnomAD
COSV67194183393E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1456229123394C>RgnomAD
rs1388565957395K>*gnomAD
rs752167853395K>TExAC
gnomAD
rs1970552003396Q>HTOPMed
rs764832853399K>*ExAC
TOPMed
gnomAD
rs1260388146399K>ITOPMed
gnomAD
rs1260388146399K>RTOPMed
gnomAD
rs761336029400A>GExAC
gnomAD
rs1195273743400A>TTOPMed
gnomAD
rs1476472698402S>GTOPMed
gnomAD
rs1240900749402S>NTOPMed
rs1476472698402S>RTOPMed
gnomAD
rs1970551591403C>FEnsembl
COSV67194408
COSV67195198
rs753408363
404S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs1947589261405S>NEnsembl
rs1970551528407F>VTOPMed
COSV67194352
rs763757874
408R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs760281021408R>LExAC
TOPMed
gnomAD
COSV67196102
rs760281021
408R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs1970551294409M>IEnsembl
rs993022375409M>VEnsembl
rs1970551249410H>RTOPMed
rs1226966147411E>DTOPMed
gnomAD
rs775327070411E>GExAC
TOPMed
gnomAD
COSV67194133
rs771815283
412R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
rs1970551059413T>IEnsembl
rs1568245291414H>QTOPMed
rs1280150427415T>AgnomAD
rs759457940415T>NExAC
TOPMed
gnomAD
rs759457940415T>SExAC
TOPMed
gnomAD
rs770860310416G>EExAC
gnomAD
rs770025244419P>HExAC
gnomAD
rs770025244419P>LExAC
gnomAD
rs200490873420H>YLikely benign (Ensembl)ESP
ExAC
gnomAD
COSV67194424
COSV67196094
422C>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1293953688423K>*gnomAD
rs747378370424Q>*ExAC
rs1464757164425C>RTOPMed
gnomAD
rs1684987470426G>DTOPMed
gnomAD
COSV101172114426G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1375773200428A>GTOPMed
rs1421071317428A>TTOPMed
gnomAD
rs780645277430S>CExAC
rs879021396430S>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Ensembl
dbSNP
rs780645277430S>RExAC
COSV67195743431C>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs758999654431C>YExAC
TOPMed
gnomAD
COSV101172319433S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2144985183433S>TEnsembl
COSV67195935434S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs879106672435V>FgnomAD
COSV67194639
COSV67194910
rs1599630912
436R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
rs879183015436R>LTOPMed
gnomAD
rs879183015436R>PTOPMed
gnomAD
rs879183015436R>QTOPMed
gnomAD
rs753363052437I>LExAC
rs1970549566437I>MEnsembl
rs1377499502439E>QTOPMed
gnomAD
COSV67194206440R>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs878980641440R>SgnomAD
rs1435494942441T>ITOPMed
gnomAD
TCGA novel444G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1197440027448Y>CTOPMed
gnomAD
rs1456588957448Y>HgnomAD
rs888409894449E>QgnomAD
COSV101172084450C>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1970549065451K>ETOPMed
rs755771829452Q>KExAC
TOPMed
gnomAD
rs752352311452Q>LExAC
TOPMed
gnomAD
rs767342111454G>SExAC
gnomAD
rs1970548709456A>DEnsembl
rs773050940456A>TEnsembl
rs879220196458S>CEnsembl
rs142653737458S>IVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs142653737458S>TVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs773317419459C>FExAC
TOPMed
gnomAD
rs372887774460S>FESP
ExAC
TOPMed
gnomAD
rs1446018787461S>NEnsembl
rs371859756464R>*ESP
ExAC
gnomAD
COSV67194120
COSV67194449
464R>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV67194120
COSV67194449
rs776648817
464R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel467E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV67194130468R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs878940953469I>SgnomAD
rs878940953469I>TgnomAD
rs1970547942470H>YEnsembl
rs769009430471T>IExAC
gnomAD
rs769009430471T>NExAC
gnomAD
COSV101172098
rs780599968
475P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
COSV67194872475P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1240199108476Y>CgnomAD
rs878962853476Y>HEnsembl
COSV67195844477E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV67194685479K>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs761513042481C>RgnomAD
rs1599630806484A>TTOPMed
rs1261531592485F>LEnsembl
rs879167991487F>CgnomAD
rs746415202488S>FExAC
TOPMed
gnomAD
rs1346986451488S>PgnomAD
rs746415202488S>YExAC
TOPMed
gnomAD
rs981646295489S>ITOPMed
gnomAD
rs2144984851491F>CEnsembl
rs368016211492R>LLikely benign (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs368016211492R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Likely benign (Ensembl)ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV67195900
rs777327200
492R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs879117838493M>IEnsembl
rs1359945252493M>LTOPMed
rs1970547001494H>PEnsembl
rs1331591091494H>QgnomAD
rs1970547033494H>YTOPMed
rs1970546910495E>AEnsembl
rs1970546942495E>KTOPMed
rs752256879496R>SExAC
gnomAD
rs1970546809497T>ITOPMed
rs767021744497T>SExAC
gnomAD
rs1158590418498H>QgnomAD
rs767486818499T>SEnsembl
rs878879631501E>VEnsembl
TCGA novel502K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs751322509503P>LExAC
TOPMed
rs535335320504Y>CEnsembl
rs1272090752504Y>HgnomAD
rs1314449058505E>DTOPMed
gnomAD
rs1970546509507K>ETOPMed
TCGA novel508Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV101172176509C>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs879002444510G>DEnsembl
rs944518672512A>GTOPMed
gnomAD
rs1970546378512A>TgnomAD
rs1364637653514S>GTOPMed
gnomAD
rs1159677641514S>IgnomAD
rs1472572994515C>FgnomAD
rs1472572994515C>YgnomAD
rs1235976424517S>IgnomAD
rs878931955517S>REnsembl
rs762863425518S>CExAC
gnomAD
rs1395798765519F>IgnomAD
rs1700683578519F>LgnomAD
rs1395798765519F>VgnomAD
COSV67194456
rs1258055711
520R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs371387854520R>P1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs371387854520R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs879005463521M>IgnomAD
rs1164521346521M>TTOPMed
gnomAD
rs1351498639522H>RgnomAD
rs1970545679523E>ATOPMed
rs187680484523E>G1000Genomes
rs761738257524R>SExAC
gnomAD
rs879122626525T>ITOPMed
gnomAD
rs369223808525T>SESP
TOPMed
gnomAD
rs776791257526H>RExAC
gnomAD
rs1355163896526H>YgnomAD
rs1449512591527T>AgnomAD
rs768962711527T>IExAC
TOPMed
gnomAD
rs768962711527T>NExAC
TOPMed
gnomAD
rs768962711527T>SExAC
TOPMed
gnomAD
rs1217041079529E>QTOPMed
gnomAD
rs775980012532Y>CExAC
gnomAD
rs772626484533E>KExAC
gnomAD
rs1023084631534C>RTOPMed
rs202242871540A>EVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs202242871540A>GVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1469791430540A>STOPMed
gnomAD
rs1469791430540A>TTOPMed
gnomAD
rs202242871540A>VVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1318789340542S>CTOPMed
gnomAD
rs1970544599542S>NTOPMed
rs1422990131543C>STOPMed
gnomAD
rs1042766209545S>NTOPMed
gnomAD
rs1970544421545S>REnsembl
COSV67196171546S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs879245144547I>FgnomAD
rs1229470055547I>TgnomAD
rs879245144547I>VgnomAD
COSV67194576
rs754601314
548R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
COSV67194248
rs1970544213
548R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
gnomAD
rs200898191549I>MTOPMed
rs1970544181549I>VgnomAD
rs1970544080550H>RTOPMed
COSV101172248550H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel551E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV67195835552R>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1287223830553T>AgnomAD
COSV101172157554H>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1229674416554H>YgnomAD
rs1292395566557E>GTOPMed
COSV101172055557E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1970543883559P>AgnomAD
COSV67196002559P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1970543761562C>REnsembl
rs1216287697567K>NTOPMed
gnomAD
rs200051842569F>S1000Genomes
TOPMed
rs751271124569F>VExAC
gnomAD
rs1299353444570S>NgnomAD
rs1368928375571C>FgnomAD
rs1436117238572S>YgnomAD
rs1005213970573S>TTOPMed
gnomAD
rs1406151693575V>F1000Genomes
gnomAD
COSV101172295
rs1399894184
576R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs779818482576R>LExAC
gnomAD
rs779818482576R>PExAC
gnomAD
COSV67195303
rs779818482
576R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
rs750242333577M>IExAC
gnomAD
rs758119467577M>VExAC
gnomAD
rs765033792578H>PExAC
gnomAD
rs960165471578H>QTOPMed
gnomAD
COSV67194624580R>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs763013437581T>IEnsembl
rs763013437581T>SEnsembl
rs1568244980582H>NEnsembl
rs761837845583T>AExAC
TOPMed
gnomAD
rs1468609356583T>ITOPMed
gnomAD
rs1970542795584G>RTOPMed
gnomAD
rs200288099585V>EExAC
gnomAD
rs753834244585V>MExAC
gnomAD
rs775606084586K>RVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs952866478588Y>CgnomAD
rs1970542491590C>GTOPMed
COSV101172159
rs1970542334
593C>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
rs1329581724594D>GgnomAD
TCGA novel596A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1970542209597F>LEnsembl
rs1401119224597F>LgnomAD
rs1442449988598S>RTOPMed
gnomAD
rs1175526355598S>TTOPMed
gnomAD
rs1413819940599C>GTOPMed
gnomAD
rs1599630568600S>LEnsembl
rs1423011640601R>CTOPMed
gnomAD
COSV67194976
COSV67195829
rs551968485
601R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
1000Genomes
dbSNP
gnomAD
rs1423011640601R>STOPMed
gnomAD
rs1970541860602S>CEnsembl
COSV67196194602S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1970541890602S>PEnsembl
rs1970541805603F>ITOPMed
rs1267423371603F>SgnomAD
rs1454559603604R>*gnomAD
rs202113977604R>Q1000Genomes
ExAC
TOPMed
gnomAD
rs1458855780605I>MTOPMed
gnomAD
rs1176387110605I>VgnomAD
rs771304417606H>RExAC
TOPMed
gnomAD
rs1310921645608R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
1000Genomes
dbSNP
gnomAD
rs374319425608R>LESP
ExAC
TOPMed
gnomAD
rs374319425608R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs997336502611T>ATOPMed
rs2144984050611T>IEnsembl
rs1970541328612G>EEnsembl
COSV101172113615P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1970541155616Y>CgnomAD
rs947050050616Y>HTOPMed
rs1302294928617A>EgnomAD
rs1970541059617A>TTOPMed
gnomAD
COSV67195780617A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1970540972618C>YEnsembl
rs1445940279619Q>ETOPMed
gnomAD
rs1445940279619Q>KTOPMed
gnomAD
rs1970540901620Q>*gnomAD
rs1970540826622G>STOPMed
rs1017447014624A>GTOPMed
gnomAD
rs1008777422625F>CTOPMed
gnomAD
rs1008777422625F>STOPMed
gnomAD
rs201836293626K>R1000Genomes
ExAC
TOPMed
gnomAD
rs1471685161627C>RTOPMed
gnomAD
rs753888196627C>YExAC
TOPMed
gnomAD
rs764268558629R>CExAC
TOPMed
gnomAD
rs183982301629R>H1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs183982301629R>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376984613632R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs199608463632R>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774556256633I>TExAC
gnomAD
rs1970540360633I>VTOPMed
rs2144983861634H>DEnsembl
COSV67196260635E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1410122557636R>ITOPMed
rs773300615
COSV67194817
636R>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
NCI-TCGA Cosmic
rs148951852637V>I1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1970540146639S>ITOPMed
rs773640894640G>EExAC
TOPMed
gnomAD
rs368416605640G>RESP
ExAC
TOPMed
gnomAD
rs773640894640G>VExAC
TOPMed
gnomAD
rs770296077641E>KExAC
TOPMed
gnomAD
COSV101172240642*>=
Variant assessed as Somatic; LOW impact. (NCI-TCGA)
NCI-TCGA Cosmic
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