Q9BWT7 · CAR10_HUMAN

  • Protein
    Caspase recruitment domain-containing protein 10
  • Gene
    CARD10
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

110321002003004005006007008009001,000
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV526576351M>?cosmic curated
rs7529033962P>LExAC
gnomAD
rs7529033962P>QExAC
gnomAD
rs7630350512P>SExAC
TOPMed
gnomAD
rs11686185353G>A1000Genomes
TOPMed
gnomAD
rs11686185353G>D1000Genomes
TOPMed
gnomAD
rs14025339853G>RgnomAD
rs14025339853G>SgnomAD
rs11707963144R>GgnomAD
rs7655620115A>GExAC
TOPMed
gnomAD
rs14779721385A>TTOPMed
gnomAD
rs7655620115A>VExAC
TOPMed
gnomAD
rs19239465006E>KEnsembl
rs12014015627A>TgnomAD
rs12371223798G>EgnomAD
rs14588484809E>*gnomAD
rs12730554829E>GTOPMed
gnomAD
rs14588484809E>KgnomAD
rs77122488410A>GVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs77122488410A>VVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs192394575111E>GEnsembl
rs93561439512E>GEnsembl
rs76122735312E>KExAC
TOPMed
gnomAD
rs76122735312E>QExAC
TOPMed
gnomAD
rs134255902914A>VEnsembl
rs77386630215G>EExAC
TOPMed
gnomAD
rs92530344215G>RTOPMed
gnomAD
rs132958059416A>TTOPMed
gnomAD
rs140062378617G>CgnomAD
COSV52658378
rs1174836167
17G>Dcosmic curated
gnomAD
rs140062378617G>RgnomAD
COSV52655149
rs768265846
18S>Lcosmic curated
ExAC
TOPMed
gnomAD
rs77497123919G>EExAC
TOPMed
gnomAD
rs74887056219G>WExAC
gnomAD
rs123312064520S>AgnomAD
rs123312064520S>TgnomAD
rs76953565421E>QExAC
rs78099956322A>EExAC
gnomAD
rs192394311923E>VEnsembl
rs94056062524E>DTOPMed
gnomAD
rs124209473825D>ETOPMed
gnomAD
rs128358454825D>GgnomAD
rs135295971325D>NgnomAD
rs75704865426A>SExAC
gnomAD
rs37668734626A>VESP
ExAC
TOPMed
gnomAD
rs192394221931I>MTOPMed
rs75846967331I>VExAC
gnomAD
rs192394211632E>QTOPMed
rs126124633033G>SgnomAD
rs86737801435R>LTOPMed
rs86737801435R>QTOPMed
rs95519566436H>DTOPMed
gnomAD
rs175653070136H>REnsembl
rs140281902637R>PgnomAD
COSV5265710437R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs76678892940R>CExAC
gnomAD
rs76678892940R>SExAC
gnomAD
rs141180941541A>TTOPMed
COSV9932489342L>Pcosmic curated
rs147164497344P>ATOPMed
gnomAD
rs147164497344P>STOPMed
gnomAD
COSV9932495046K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV10586674147L>Hcosmic curated
rs192393986548T>MTOPMed
COSV9932484449P>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5266026954C>Gcosmic curated
COSV5265448754C>Ycosmic curated
rs122795046655R>QgnomAD
rs76817417455R>WExAC
gnomAD
COSV9932518356V>Acosmic curated
rs129515538357I>MVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV5265608858D>Gcosmic curated
rs214577960958D>NEnsembl
rs141551224759E>VgnomAD
rs129690457161D>NgnomAD
COSV10586674262E>*cosmic curated
rs192393854762E>KTOPMed
COSV5265633163E>Dcosmic curated
rs127649553263E>GTOPMed
gnomAD
rs132335713365V>MgnomAD
rs120413679766L>MTOPMed
gnomAD
COSV5265942167S>Tcosmic curated
rs148382286868T>ATOPMed
rs214577958169Y>SEnsembl
rs56989943070R>G1000Genomes
gnomAD
rs96299016470R>HTOPMed
gnomAD
COSV5265971970R>Lcosmic curated
rs56989943070R>S1000Genomes
gnomAD
rs142131656271F>LTOPMed
gnomAD
COSV52658936
rs1279247990
72P>Lcosmic curated
gnomAD
rs148618984573C>STOPMed
gnomAD
rs124589460674R>HgnomAD
rs77765802376N>SExAC
gnomAD
COSV52660383
rs1200226771
77R>Hcosmic curated
TOPMed
gnomAD
rs192390279780R>CTOPMed
gnomAD
COSV52659980
rs772945473
80R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs77294547380R>LExAC
TOPMed
gnomAD
rs214577878282M>TEnsembl
rs103785184784I>MTOPMed
gnomAD
COSV5265780684I>Tcosmic curated
rs74805357285L>FVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs88827271485L>VEnsembl
COSV5265730286R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV5265730286R>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99324992
COSV99325435
88R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs139542337088R>HgnomAD
COSV99324992
COSV99325435
88R>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV9932504690K>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV9932487391R>Mcosmic curated
rs117783088192G>AgnomAD
rs117783088192G>VgnomAD
rs139734415193Y>CVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV5265744696F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel99A>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV10724878499A>Scosmic curated
rs14541502399A>VESP
COSV106350294100L>Pcosmic curated
COSV52659902100L>Rcosmic curated
rs778732750100L>VExAC
TOPMed
gnomAD
rs768775297101E>GExAC
gnomAD
rs1255542301103Y>CTOPMed
gnomAD
COSV52659569105P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs756354785105P>LExAC
gnomAD
COSV52658732
rs372809047
106E>Kcosmic curated
ESP
TOPMed
gnomAD
rs1239921794107H>DgnomAD
TCGA novel107H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV52657455
rs757574816
108F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
COSV52654301
rs752095306
109T>Mcosmic curated
ExAC
TOPMed
gnomAD
rs1442372017110L>MgnomAD
COSV99325288
rs1377804818
112T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs1416522612113G>CgnomAD
COSV52658743113G>Scosmic curated
rs917173339116P>LgnomAD
rs867076487116P>SEnsembl
rs374641596117A>TESP
ExAC
TOPMed
gnomAD
COSV108042603117A>Vcosmic curated
rs1417636892119R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
COSV106087371
rs1362216983
119R>Hcosmic curated
gnomAD
rs150070134121S>CESP
ExAC
TOPMed
gnomAD
COSV52655082
COSV99324865
rs924356731
124L>=
Variant assessed as Somatic; LOW impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
rs1255514107125D>HTOPMed
gnomAD
COSV105095436
rs1255514107
125D>Ncosmic curated
TOPMed
gnomAD
COSV52654978127E>Vcosmic curated
rs1923844714129P>LEnsembl
rs1419080863129P>STOPMed
COSV99325147
rs760193849
130E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
COSV99324872131G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs750065845131G>VExAC
TOPMed
gnomAD
rs1463276570133T>IgnomAD
rs1395271158134Q>*gnomAD
rs1039590785136L>FEnsembl
rs1170125272137M>ITOPMed
gnomAD
rs1344826007137M>TgnomAD
COSV52660756138T>Acosmic curated
rs1923843832138T>RTOPMed
COSV99324881139E>*cosmic curated
COSV52658994
COSV99324881
139E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs761643271140V>LExAC
gnomAD
rs773964688141R>*ExAC
TOPMed
gnomAD
COSV52657201
rs1194260674
141R>Qcosmic curated
TOPMed
gnomAD
rs199764326142R>QVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs763979805142R>WExAC
TOPMed
gnomAD
COSV99324924144R>Lcosmic curated
rs775579627144R>QExAC
TOPMed
gnomAD
rs769979914145E>KExAC
gnomAD
rs1358267026146A>GTOPMed
gnomAD
COSV52656290
rs868152109
147R>Ccosmic curated
TOPMed
gnomAD
COSV99324693
rs550531365
147R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs550531365147R>L1000Genomes
ExAC
TOPMed
gnomAD
rs1923842359148K>RTOPMed
gnomAD
rs1232520606149S>NgnomAD
rs747277494149S>RExAC
TOPMed
gnomAD
rs2145777272150Q>HEnsembl
rs929397246152Q>RTOPMed
gnomAD
rs1187928736153R>PTOPMed
gnomAD
rs777963707153R>WExAC
TOPMed
gnomAD
rs1923841526155Q>RTOPMed
COSV52659611156Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs748599559156Q>EExAC
TOPMed
gnomAD
rs755587097158Q>RExAC
TOPMed
gnomAD
COSV104574636159A>Tcosmic curated
COSV52655338159A>Vcosmic curated
COSV52657693
rs981850029
160R>Qcosmic curated
TOPMed
gnomAD
rs919323160160R>WTOPMed
gnomAD
rs1466035373161G>VTOPMed
gnomAD
rs749981577162R>LExAC
TOPMed
gnomAD
rs749981577162R>QExAC
TOPMed
gnomAD
COSV52654154
rs1393624241
162R>Wcosmic curated
gnomAD
rs1373748386163V>AgnomAD
rs1555936618164-165LE>*ESP
TOPMed
rs1287260583165E>DTOPMed
gnomAD
rs756816896165E>KExAC
TOPMed
gnomAD
rs1004633993166E>*TOPMed
gnomAD
rs1004633993166E>KTOPMed
gnomAD
rs1923839410167E>KTOPMed
gnomAD
rs751228709168R>WExAC
TOPMed
gnomAD
rs1199778470169A>EgnomAD
rs1250701565169A>STOPMed
gnomAD
rs763739012170G>EExAC
gnomAD
rs1923838887170G>RTOPMed
COSV52656022170G>Wcosmic curated
COSV106350237172E>*cosmic curated
rs775563067174R>QExAC
TOPMed
gnomAD
rs762897456174R>WExAC
TOPMed
gnomAD
COSV52654054
rs201107638
176R>Qcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV52654458
rs765306970
176R>Wcosmic curated
ExAC
TOPMed
gnomAD
rs776524489178Q>HExAC
gnomAD
rs1569168366180Q>LEnsembl
COSV52658500182Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1329666723183E>DgnomAD
COSV52655175
rs771075851
184R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs747136933184R>HExAC
TOPMed
gnomAD
rs771075851184R>SExAC
TOPMed
gnomAD
COSV52658191185C>Rcosmic curated
COSV104574661186Q>*cosmic curated
COSV52655763
rs772415402
187R>Wcosmic curated
ExAC
TOPMed
gnomAD
rs374447215189R>GVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs1470982641189R>LTOPMed
gnomAD
COSV52654591
rs1470982641
189R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs374447215189R>WVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs755426309190E>KExAC
gnomAD
rs1440664421192W>RTOPMed
rs370280620194A>VESP
ExAC
TOPMed
gnomAD
rs1923836471195G>RgnomAD
COSV105095527195G>Scosmic curated
rs1281971136197L>RgnomAD
rs1393490272198E>KTOPMed
rs998294948201R>QTOPMed
gnomAD
COSV52658536
rs763873395
201R>Wcosmic curated
ExAC
TOPMed
gnomAD
rs1347867810202L>FTOPMed
gnomAD
rs1163007887204D>GTOPMed
gnomAD
COSV104574640204D>Ycosmic curated
TCGA novel208M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs758236907208M>VExAC
TOPMed
gnomAD
rs189375741209I>N1000Genomes
ExAC
TOPMed
gnomAD
rs189375741209I>T1000Genomes
ExAC
TOPMed
gnomAD
rs752589145209I>VExAC
gnomAD
rs1042147750210A>SVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1042147750210A>TVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs753821690210A>VExAC
TOPMed
gnomAD
rs1163499248211M>TTOPMed
gnomAD
rs1160459381211M>VTOPMed
gnomAD
rs760871700212R>CExAC
TOPMed
gnomAD
CA16044149
COSV52660187
RCV000416607
rs1057519378
212R>H
Primary open angle glaucoma (ClinVar)
Risk factor (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
rs1057519378212R>LRisk factor (Ensembl)TOPMed
gnomAD
TCGA novel214A>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1336831480214A>VTOPMed
rs773306444215Q>HExAC
TOPMed
gnomAD
rs772326004217S>GExAC
gnomAD
rs1923833584217S>TgnomAD
rs572361893218E>K1000Genomes
ExAC
gnomAD
COSV52659375
rs1448912343
220K>Rcosmic curated
gnomAD
rs1285220336221N>SgnomAD
rs147151809222S>LESP
ExAC
TOPMed
gnomAD
rs557486061223A>TEnsembl
rs1295246748224V>IgnomAD
COSV52655661
rs1234420327
226R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs1234420327226R>GTOPMed
gnomAD
rs1361901436226R>HTOPMed
gnomAD
rs1268748333227S>IgnomAD
rs749698833227S>RExAC
gnomAD
rs1046896416228R>CTOPMed
COSV52657550
rs780666568
228R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs1046896416228R>STOPMed
rs1324790094229D>ETOPMed
gnomAD
rs921792306229D>HEnsembl
rs2145776998231Q>*Ensembl
rs377447143233A>VESP
ExAC
TOPMed
gnomAD
rs779732014234V>EExAC
gnomAD
rs753710413234V>MExAC
TOPMed
gnomAD
rs1027634661235D>VTOPMed
gnomAD
COSV99324758237L>Icosmic curated
rs143511547238K>R1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143511547238K>T1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1417898248239L>RgnomAD
TCGA novel240K>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs757018451240K>RExAC
gnomAD
rs560170229241V>M1000Genomes
ExAC
TOPMed
gnomAD
rs150759948243R>LVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs150759948243R>PVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs150759948243R>QVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs139571632243R>WESP
ExAC
TOPMed
gnomAD
rs200459797246E>AExAC
TOPMed
gnomAD
rs200045052248C>R1000Genomes
TOPMed
gnomAD
COSV52655030
rs200045052
248C>Scosmic curated
1000Genomes
TOPMed
gnomAD
rs1436370589248C>YgnomAD
rs1923595674249A>TTOPMed
gnomAD
rs777292091252R>*ExAC
TOPMed
gnomAD
rs777292091252R>GExAC
TOPMed
gnomAD
rs1177053530252R>LTOPMed
gnomAD
rs1177053530252R>PTOPMed
gnomAD
rs1177053530252R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs1206795739255R>TTOPMed
gnomAD
rs771698026255R>WExAC
gnomAD
rs747729629256G>DExAC
gnomAD
COSV52659652
rs774120876
257P>Lcosmic curated
ExAC
TOPMed
gnomAD
rs541633420258P>A1000Genomes
ExAC
TOPMed
gnomAD
COSV52656319
rs1209095407
258P>Lcosmic curated
gnomAD
rs541633420258P>S1000Genomes
ExAC
TOPMed
gnomAD
rs748921099259P>RExAC
TOPMed
gnomAD
rs1923594218259P>STOPMed
gnomAD
COSV104382279260G>Ecosmic curated
rs1308474681261A>TgnomAD
rs1923593843261A>VgnomAD
rs1223860936262E>GgnomAD
COSV52659297262E>Kcosmic curated
rs1923593569264K>EEnsembl
COSV52659894264K>Mcosmic curated
rs745789566265E>DExAC
TOPMed
gnomAD
rs781170519266K>RExAC
gnomAD
rs757295933267E>*ExAC
gnomAD
rs1923592325269E>GTOPMed
rs1923592407269E>KEnsembl
rs751686664270K>NExAC
gnomAD
rs1343685144270K>RTOPMed
gnomAD
rs764103672271E>QExAC
rs1476494642272K>NgnomAD
COSV52658642
rs998070657
272K>Qcosmic curated
TOPMed
gnomAD
COSV52658631272K>Tcosmic curated
TCGA novel272-273KE>missing
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1923589863274P>TEnsembl
COSV52660205
rs758606700
275D>Gcosmic curated
ExAC
TOPMed
gnomAD
rs1923589675275D>NTOPMed
rs759878546277V>AExAC
gnomAD
COSV99324808277V>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs765580402277V>MExAC
gnomAD
COSV99325221279L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs767037189279L>IExAC
TOPMed
gnomAD
rs767037189279L>VExAC
TOPMed
gnomAD
rs1380316525280V>IgnomAD
rs1484153544281S>CEnsembl
rs1251510008282E>GTOPMed
gnomAD
COSV99067136
rs371898322
284R>Ccosmic curated
ESP
ExAC
TOPMed
gnomAD
COSV52654467
rs200768346
284R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs897818107285A>GVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1923587656287N>KTOPMed
rs1601817119287N>TEnsembl
VAR_028116
COSV52655956
rs9610775
289R>Q
Benign (Ensembl)UniProt
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV52655294
rs768052242
289R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs775059469291T>AExAC
gnomAD
rs769625750291T>KExAC
gnomAD
COSV52656920
rs769625750
291T>Mcosmic curated
ExAC
gnomAD
rs781085817292A>SExAC
gnomAD
rs1467793360292A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
COSV52656031293S>Lcosmic curated
rs746980534295R>QExAC
TOPMed
gnomAD
rs1215053937295R>WgnomAD
rs1923585689297L>FTOPMed
rs1225221839298Q>HgnomAD
COSV52661285299E>*cosmic curated
rs1923585518299E>GEnsembl
rs1923585384300G>DEnsembl
COSV52654133304E>Dcosmic curated
rs1268887776304E>KTOPMed
gnomAD
rs1268887776304E>QTOPMed
gnomAD
rs762501467305A>GExAC
TOPMed
gnomAD
COSV52659099305A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs762501467305A>VExAC
TOPMed
gnomAD
rs771502156307R>GExAC
TOPMed
gnomAD
rs368309693307R>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs771502156307R>WExAC
TOPMed
gnomAD
rs201477949308P>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201477949308P>R1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1458526362309G>VgnomAD
rs1569166135310A>DEnsembl
COSV104574628310A>Pcosmic curated
rs1272531097310A>TTOPMed
COSV105866744
rs760532902
311P>Lcosmic curated
ExAC
TOPMed
gnomAD
rs760532902311P>QExAC
TOPMed
gnomAD
rs1923501142311P>SgnomAD
rs1415876884312G>SgnomAD
rs748143318314E>K1000Genomes
ExAC
TOPMed
gnomAD
rs748143318314E>Q1000Genomes
ExAC
TOPMed
gnomAD
COSV108042639314E>Vcosmic curated
rs199796526315R>C1000Genomes
ExAC
TOPMed
gnomAD
COSV99325020
rs768866452
315R>Hcosmic curated
ExAC
TOPMed
gnomAD
rs1466459183316I>VTOPMed
gnomAD
rs1490158058317L>MTOPMed
rs1490158058317L>VTOPMed
rs749505062320I>TExAC
gnomAD
rs1923499470322E>*TOPMed
rs1333258306325W>*gnomAD
rs780487593326R>PExAC
TOPMed
gnomAD
rs780487593326R>QExAC
TOPMed
gnomAD
COSV52655740
rs1292631266
326R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs1339105646327E>GgnomAD
CA10220005
COSV104574663
RCV000416609
rs139006752
328A>V
Primary open angle glaucoma (ClinVar)
Risk factor (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1055399764329Q>REnsembl
rs1923498012330D>HTOPMed
rs1923497816333Q>RTOPMed
rs1417099500335L>PgnomAD
COSV105866774336C>Ycosmic curated
TCGA novel338K>N
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1193305495341A>GgnomAD
rs757664910341A>TExAC
TOPMed
gnomAD
CA10220000
RCV000416610
rs200148764
342V>M
Primary open angle glaucoma (ClinVar)
Risk factor (Ensembl, ClinVar)ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs754542141343Q>HExAC
TOPMed
rs978855885344G>RTOPMed
gnomAD
rs978855885344G>WTOPMed
gnomAD
rs1437788085345E>KTOPMed
gnomAD
rs145660506347Q>RESP
TOPMed
gnomAD
rs766062665348W>*ExAC
TOPMed
gnomAD
COSV99325002350E>*cosmic curated
rs1923495911350E>ATOPMed
gnomAD
rs1231703782350E>KTOPMed
gnomAD
rs772838318353R>CExAC
TOPMed
gnomAD
rs767381001353R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs768848343354D>NExAC
TOPMed
gnomAD
rs1923495046354D>VEnsembl
rs768848343354D>YExAC
TOPMed
gnomAD
rs1430154090355Q>KgnomAD
rs749417199355Q>PExAC
gnomAD
rs908728394357L>MTOPMed
gnomAD
rs1161485591359E>DgnomAD
rs376261116361E>QESP
ExAC
TOPMed
gnomAD
COSV52659180362D>Ecosmic curated
rs1923470928362D>HEnsembl
rs533969301363L>VEnsembl
rs199557110364R>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs184229951364R>W1000Genomes
ExAC
TOPMed
gnomAD
rs748687860365L>FExAC
TOPMed
gnomAD
rs1923469880366K>QEnsembl
rs779476442368R>CExAC
TOPMed
gnomAD
COSV52659030
rs150236189
368R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs573923792369T>MVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
COSV52659135373D>Ecosmic curated
COSV52658579373D>Ycosmic curated
rs1334002130374C>RgnomAD
rs1263599676375D>HTOPMed
gnomAD
COSV99324860376L>Mcosmic curated
rs1246991502376L>PTOPMed
gnomAD
rs1322066454377Y>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs764010858379H>DExAC
gnomAD
rs764010858379H>NExAC
gnomAD
COSV99325140
rs762915999
380R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs1363325325380R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs1363325325380R>LgnomAD
rs1923467252381M>ITOPMed
gnomAD
rs752695269381M>VVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV000958215
RCV003915966
rs61746683
382A>T
CARD10-related disorder (ClinVar)
Benign (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs758216874382A>VEnsembl
rs776687884383T>IExAC
TOPMed
gnomAD
rs776687884383T>SExAC
TOPMed
gnomAD
rs760911423384V>IExAC
TOPMed
gnomAD
rs760911423384V>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs772433943386A>DExAC
TOPMed
gnomAD
COSV105866753
rs772433943
386A>Vcosmic curated
ExAC
TOPMed
gnomAD
rs1923465995389E>VEnsembl
COSV52656761
rs866057374
390E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
dbSNP
rs769186770391I>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs1923465707391I>VEnsembl
COSV99324623392E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs569862112392E>G1000Genomes
ExAC
gnomAD
rs780584003394E>QExAC
gnomAD
rs988032819395R>*TOPMed
gnomAD
COSV99325484
rs756869184
395R>Qcosmic curated
ExAC
TOPMed
gnomAD
COSV52658073397Q>Ecosmic curated
rs1217040328397Q>LTOPMed
rs571879481398A>G1000Genomes
ExAC
rs571879481398A>V1000Genomes
ExAC
rs778583764399I>TExAC
gnomAD
COSV52657791401S>Rcosmic curated
rs553675855402R>C1000Genomes
ExAC
TOPMed
gnomAD
COSV52657963
rs199929114
402R>Hcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs199929114402R>L1000Genomes
ExAC
TOPMed
gnomAD
COSV52654391403D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV52660767
rs1362779928
404R>Qcosmic curated
TOPMed
gnomAD
CA10219908
COSV52655130
RCV000416606
rs750643216
404R>W
Primary open angle glaucoma (ClinVar)
Risk factor (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSV99324983
rs762039457
408Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs1252226921408Q>RgnomAD
rs774713316412S>RExAC
gnomAD
rs996273443415E>KTOPMed
rs1923407475419Y>CEnsembl
COSV52659535419Y>Hcosmic curated
VAR_086467
RCV001787025
rs748488870
420R>C
IMD89; uncertain significance; decreased protein expression compared to wild type when transfected in HEK293T cells (UniProt)
Immunodeficiency 89 and autoimmunity (ClinVar)
Pathogenic (Ensembl, ClinVar)UniProt
ClinVar
dbSNP
gnomAD
rs748488870420R>GPathogenic (Ensembl)gnomAD
rs1267645541420R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs1267645541420R>LTOPMed
gnomAD
rs1352895818421K>ETOPMed
gnomAD
rs770534769423V>MExAC
rs372472560424R>QVariant of uncertain significance (Ensembl)ESP
TOPMed
gnomAD
COSV52658268
rs1447778516
424R>Wcosmic curated
TOPMed
gnomAD
rs1332998819425G>VTOPMed
rs746583524427E>KExAC
TOPMed
gnomAD
rs746583524427E>QExAC
TOPMed
gnomAD
rs1396288669428A>TgnomAD
rs367893893428A>VESP
ExAC
TOPMed
gnomAD
rs1458688182429E>KgnomAD
rs1412639340430R>QTOPMed
gnomAD
rs1047631921430R>WTOPMed
gnomAD
rs778727071431D>GExAC
TOPMed
gnomAD
rs367669690431D>NESP
ExAC
TOPMed
gnomAD
rs778727071431D>VExAC
TOPMed
gnomAD
rs367669690431D>YESP
ExAC
TOPMed
gnomAD
rs1379155025432E>DTOPMed
gnomAD
TCGA novel432E>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs754748893435T>IExAC
gnomAD
COSV99325326
rs201397783
436T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)cosmic curated
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1287361033436T>STOPMed
gnomAD
COSV52654250438T>Icosmic curated
rs1601814450438T>PEnsembl
TCGA novel
rs1923404276
439S>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
Ensembl
rs1247447961439S>IgnomAD
rs1247447961439S>NgnomAD
rs1489341185441E>QgnomAD
rs1923403838441E>VEnsembl
TCGA novel442G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs948109521442G>VTOPMed
rs1923403588443T>SEnsembl
COSV52658100444K>Ncosmic curated
rs1199153035444K>RTOPMed
gnomAD
rs1331761193445A>PTOPMed
gnomAD
TCGA novel446L>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1923403117448E>DTOPMed
rs1923403020449V>AEnsembl
rs1923402549450Q>HEnsembl
rs1923402662450Q>KTOPMed
rs764497951452Q>RExAC
TOPMed
gnomAD
rs796183854453R>QTOPMed
gnomAD
rs1364015010453R>WTOPMed
gnomAD
rs776060684454A>SExAC
gnomAD
rs776060684454A>TExAC
gnomAD
COSV52660468
rs1322780158
454A>Vcosmic curated
TOPMed
gnomAD
COSV52654272455Q>Hcosmic curated
rs765902502455Q>PExAC
gnomAD
rs760133266456G>AVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs760133266456G>DVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs760133266456G>VVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs761476671458T>AExAC
TOPMed
gnomAD
COSV52657647
rs761476671
458T>Pcosmic curated
ExAC
TOPMed
gnomAD
rs1923400456461K>ETOPMed
COSV99325332461K>Qcosmic curated
rs771039211462A>TExAC
TOPMed
gnomAD
rs3817806463C>WBenign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144504964463C>YVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs2145764136464A>TEnsembl
rs1424047073466S>TgnomAD
rs1412832255468S>CTOPMed
gnomAD
rs1412832255468S>YTOPMed
gnomAD
rs1427407248469L>MgnomAD
rs1923344767470C>YEnsembl
rs1432607395472N>DTOPMed
gnomAD
rs779369473472N>SExAC
gnomAD
rs779369473472N>TExAC
gnomAD
rs1923344521474S>CgnomAD
rs755439574476T>SExAC
TOPMed
gnomAD
rs1923343933477W>CTOPMed
rs1923343828478S>RTOPMed
gnomAD
COSV52656146479L>Mcosmic curated
rs766858409480S>NExAC
gnomAD
rs1371557249480S>RTOPMed
gnomAD
rs750971776481E>KExAC
TOPMed
gnomAD
rs1207664193482F>SgnomAD
COSV104574665
rs1313406227
483P>Lcosmic curated
gnomAD
rs1004201907483P>SEnsembl
rs762467576485P>HExAC
TOPMed
gnomAD
COSV107248740
rs762467576
485P>Lcosmic curated
ExAC
TOPMed
gnomAD
rs1327035720485P>SgnomAD
COSV52657325
rs1281301260
488G>Dcosmic curated
gnomAD
rs1378258421488G>SgnomAD
TCGA novel490E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
COSV52659474
rs1923341736
491A>Tcosmic curated
TOPMed
gnomAD
rs1344131668493G>AEnsembl
rs1923341635493G>REnsembl
COSV99325208493G>Vcosmic curated
rs1302454238494E>KgnomAD
rs768266973495A>TExAC
TOPMed
gnomAD
rs759392740496A>VExAC
TOPMed
gnomAD
rs138137003497V>IESP
TOPMed
gnomAD
rs138137003497V>LESP
TOPMed
gnomAD
rs746970568498M>IExAC
TOPMed
gnomAD
rs776537897498M>LExAC
TOPMed
gnomAD
COSV99324638
rs770715620
498M>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs776537897498M>VExAC
TOPMed
gnomAD
rs1923340346500G>AEnsembl
rs773124059500G>RExAC
TOPMed
gnomAD
COSV52657474501P>Rcosmic curated
rs772212662501P>SExAC
TOPMed
gnomAD
rs772212662501P>TExAC
TOPMed
gnomAD
COSV52661691504H>Qcosmic curated
rs1484041995504H>RgnomAD
COSV104574684504H>Ycosmic curated
rs779314332505N>KExAC
gnomAD
COSV105866765
rs201395381
505N>Scosmic curated
Ensembl
rs187973940506S>L1000Genomes
ExAC
TOPMed
gnomAD
rs1315984250507E>KgnomAD
rs77081811508E>KEnsembl
TCGA novel
rs1923328148
509A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TOPMed
rs2145763536509A>VEnsembl
rs1227989371510T>IgnomAD
rs925622063511D>ETOPMed
gnomAD
rs935716333511D>GTOPMed
gnomAD
rs935716333511D>VTOPMed
gnomAD
rs760479426512S>GExAC
gnomAD
rs1451811162512S>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs951403795513E>DTOPMed
gnomAD
rs1366626863514K>NTOPMed
gnomAD
RCV000882784
RCV003930583
rs61752257
514K>R
CARD10-related disorder (ClinVar)
Benign (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1388194780516I>VTOPMed
TCGA novel
rs1923326664
517N>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
1000Genomes
TOPMed
gnomAD
rs1923326032518R>QTOPMed
COSV52656967
rs894583373
518R>Wcosmic curated
TOPMed
gnomAD
rs1923325806519L>FEnsembl
rs1923325470521I>LTOPMed
rs1034158099523P>LTOPMed
rs768936084524F>IExAC
TOPMed
gnomAD
rs768936084524F>LExAC
TOPMed
gnomAD
rs1601813358524F>SEnsembl
rs1273706151525P>AgnomAD
rs1569164767526P>AEnsembl
rs746331330526P>HExAC
TOPMed
gnomAD
rs746331330526P>LExAC
TOPMed
gnomAD
rs746331330526P>RExAC
TOPMed
gnomAD
COSV52659434526P>Tcosmic curated
rs752145227527S>GExAC
TOPMed
gnomAD
rs1228260497527S>NgnomAD
rs866337346529G>DEnsembl
rs754584981529G>RExAC
TOPMed
gnomAD
rs754584981529G>SExAC
TOPMed
gnomAD
COSV99324939
rs1343667103
531I>Tcosmic curated
Ensembl
COSV104574670532L>Fcosmic curated
COSV99324722
rs1346492547
533R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs760556080533R>HExAC
TOPMed
gnomAD
COSV52655324
rs760556080
533R>Lcosmic curated
ExAC
TOPMed
gnomAD
rs1346492547533R>SgnomAD
rs1198267978534R>QEnsembl
rs1427351036534R>WgnomAD
rs750318837535Q>HExAC
gnomAD
rs1168201772536R>CTOPMed
gnomAD
rs1465100003536R>HgnomAD
rs1601813282539D>AEnsembl
rs1305439381539D>EgnomAD
rs1601813282539D>GEnsembl
rs1375464237539D>NgnomAD
rs1250744962541A>EgnomAD
rs542339780541A>S1000Genomes
ExAC
TOPMed
gnomAD
COSV52659329
rs542339780
541A>Tcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1482163611542P>LTOPMed
gnomAD
rs1482163611542P>RTOPMed
gnomAD
rs1923320716542P>SEnsembl
rs199880158543P>A1000Genomes
ExAC
TOPMed
gnomAD
rs796586243543P>HgnomAD
rs199880158543P>T1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel544K>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs769123893544K>EEnsembl
rs1385897881545R>KTOPMed
COSV52657563546S>Ycosmic curated
rs745532871549S>RExAC
TOPMed
gnomAD
COSV99324971550M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1319099818550M>TTOPMed
rs781115028550M>VExAC
gnomAD
rs1923279709552D>ETOPMed
COSV52658921552D>Gcosmic curated
rs1234735771553I>MTOPMed
gnomAD
rs143277306553I>VVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs1923279300554T>IgnomAD
rs757106201555G>AExAC
gnomAD
rs1466580879558T>ITOPMed
gnomAD
rs199732529559L>FESP
ExAC
TOPMed
gnomAD
rs777717036560K>EExAC
TOPMed
gnomAD
rs532862894562W>*1000Genomes
COSV99325157562W>Lcosmic curated
COSV104574669
rs758317333
563S>Fcosmic curated
ExAC
TOPMed
gnomAD
rs758317333563S>YExAC
TOPMed
gnomAD
COSV99325213564P>Hcosmic curated
rs1333595605564P>LgnomAD
COSV52656975565G>Dcosmic curated
rs759476266566L>PEnsembl
COSV52655356567S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV104382275
rs765335110
568S>Lcosmic curated
ExAC
TOPMed
gnomAD
COSV99324850571S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99324850571S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV99324875
COSV99325330
572S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99324875572S>Fcosmic curated
rs760896752574S>RExAC
gnomAD
rs773495772575V>LExAC
gnomAD
rs773495772575V>MExAC
gnomAD
TCGA novel576W>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1000135902577P>TEnsembl
COSV99324944578L>Fcosmic curated
rs1437062452579G>RTOPMed
rs138265369581P>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs150457769582E>GESP
ExAC
TOPMed
gnomAD
rs150457769582E>VESP
ExAC
TOPMed
gnomAD
rs745430024584L>RExAC
gnomAD
rs770643153586A>SExAC
gnomAD
COSV52657844587R>Gcosmic curated
rs746691823587R>PExAC
TOPMed
gnomAD
rs746691823587R>QExAC
TOPMed
gnomAD
COSV52654755
COSV52657844
rs1039088798
587R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs200740886588G>D1000Genomes
ExAC
TOPMed
gnomAD
rs1161746385588G>SgnomAD
rs1923255683589C>RTOPMed
rs748088095589C>YExAC
TOPMed
gnomAD
rs755069751590G>DExAC
TOPMed
gnomAD
rs780110046591L>PExAC
gnomAD
TCGA novel591L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1051623757592D>GTOPMed
gnomAD
rs1484855538592D>HgnomAD
rs1051623757592D>VTOPMed
gnomAD
COSV52657180593F>Lcosmic curated
COSV52657615593F>Vcosmic curated
rs1216221342594L>FgnomAD
rs1923254659594L>RgnomAD
rs528654160595N>K1000Genomes
ExAC
gnomAD
rs929186598596R>GEnsembl
rs961343274596R>KTOPMed
COSV99325459596R>Mcosmic curated
COSV52654958597S>Acosmic curated
rs1923037020597S>PTOPMed
gnomAD
COSV52660113600I>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs201423754601R>QVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs562739778601R>WVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs764553007602V>MExAC
TOPMed
gnomAD
rs1365797192603S>CgnomAD
rs1167645182604G>DgnomAD
COSV52654931
rs753304481
605R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs763506217605R>WExAC
TOPMed
gnomAD
rs1471866856606S>RTOPMed
rs765953882608P>RExAC
TOPMed
gnomAD
rs760327734610G>DExAC
gnomAD
rs1397455090611P>LTOPMed
gnomAD
COSV99325155611P>Qcosmic curated
COSV52655455612E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1316206171612E>GTOPMed
gnomAD
rs1490469529613P>LTOPMed
gnomAD
rs577479526614Q>R1000Genomes
ExAC
gnomAD
COSV52654349615D>Ycosmic curated
rs1415864335616K>NTOPMed
gnomAD
rs1923034479616K>RTOPMed
COSV105095504617G>Ecosmic curated
rs773974916617G>RExAC
gnomAD
rs768459581618P>QExAC
TOPMed
gnomAD
rs370249432620G>EESP
ExAC
TOPMed
gnomAD
COSV99324536620G>Rcosmic curated
rs201810012622S>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs961213225622S>PTOPMed
gnomAD
COSV52654216
rs201810012
622S>Wcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs960133696624Y>CTOPMed
rs1189414811624Y>HTOPMed
gnomAD
TCGA novel625G>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1343377771625G>EgnomAD
rs141811623625G>RESP
ExAC
TOPMed
gnomAD
rs757382127626D>EExAC
gnomAD
TCGA novel626D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV99324520626D>Vcosmic curated
rs1281669841627R>TgnomAD
rs1298252274629S>FgnomAD
COSV108042624629S>Ycosmic curated
rs778261834631A>TExAC
gnomAD
rs1427102872631A>VTOPMed
gnomAD
rs147963407632V>LESP
ExAC
TOPMed
gnomAD
rs147963407632V>MESP
ExAC
TOPMed
gnomAD
rs1923032087633V>AEnsembl
rs1923032189633V>MgnomAD
rs369951701634R>CESP
ExAC
TOPMed
gnomAD
COSV99324887
rs755522562
634R>Hcosmic curated
ExAC
TOPMed
gnomAD
rs755522562634R>LExAC
TOPMed
gnomAD
rs369951701634R>SESP
ExAC
TOPMed
gnomAD
COSV104382276635R>Kcosmic curated
rs1252678363636V>LTOPMed
gnomAD
rs1923031210637L>PEnsembl
rs942982585638S>FVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs911564189640P>LEnsembl
rs1923030623640P>SgnomAD
rs1312708740641G>RTOPMed
gnomAD
COSV107248733642S>Fcosmic curated
COSV52660367643A>Scosmic curated
COSV52658045
rs774099152
643A>Tcosmic curated
ExAC
TOPMed
gnomAD
rs762799154644R>KExAC
TOPMed
gnomAD
rs1923029774644R>STOPMed
rs762799154644R>TExAC
TOPMed
gnomAD
rs950463105645M>IEnsembl
COSV52660699645M>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1923029428647P>RTOPMed
rs1326518094647P>STOPMed
rs1326518094647P>TTOPMed
TCGA novel647-648PR>missing
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs575758505649E>G1000Genomes
ExAC
TOPMed
gnomAD
COSV52660974649E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs770909825650Q>RExAC
TOPMed
gnomAD
rs1383386416651R>KTOPMed
gnomAD
rs760865621
COSV52659165
651R>SExAC
TOPMed
gnomAD
cosmic curated
rs1383386416651R>TTOPMed
gnomAD
rs1191722866655A>SgnomAD
COSV99324493656G>Vcosmic curated
rs1262895118657L>VgnomAD
rs748408495658E>KExAC
gnomAD
rs1923010475659G>REnsembl
rs577751588660A>V1000Genomes
ExAC
TOPMed
gnomAD
rs1425678585661C>FTOPMed
gnomAD
COSV52656108664A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1432833592664A>VgnomAD
rs780670759665E>KVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs780670759665E>QVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1404501447666A>VgnomAD
TCGA novel669R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs2145754984669R>TEnsembl
rs751008593670T>NExAC
TOPMed
gnomAD
rs751008593670T>SExAC
TOPMed
gnomAD
COSV52654204671L>*cosmic curated
rs1569162842
COSV104574630
673W>*Ensembl
cosmic curated
rs1923008116674N>ITOPMed
gnomAD
rs1923008004675Q>*TOPMed
rs377261206675Q>RESP
ExAC
TOPMed
gnomAD
rs373196505676G>AESP
ExAC
TOPMed
gnomAD
rs373196505676G>EESP
ExAC
TOPMed
gnomAD
COSV105821431676G>Kcosmic curated
rs1318803486677S>CgnomAD
COSV52660487677S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs141109936678T>I1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs151150977680P>RESP
COSV52657351680P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs766281367682L>VExAC
TOPMed
gnomAD
rs760692759683M>VExAC
TOPMed
gnomAD
TCGA novel684D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV99325427685S>*cosmic curated
COSV52655470
COSV99325427
rs142113268
685S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
NCI-TCGA Cosmic
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1216184790686K>QVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV52656792687A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV107248759688C>*cosmic curated
rs1922990768688C>FEnsembl
rs1922990655692H>YTOPMed
rs1922990426693E>KEnsembl
rs1922990326693E>VEnsembl
rs372113093694A>DESP
ExAC
TOPMed
gnomAD
rs372113093694A>VESP
ExAC
TOPMed
gnomAD
rs771555352697A>SExAC
TOPMed
gnomAD
rs771555352697A>TExAC
TOPMed
gnomAD
rs1922989700699A>TTOPMed
rs1427457285701G>EgnomAD
COSV52658418701G>Rcosmic curated
rs1922989471702P>RTOPMed
rs1449165057703G>CTOPMed
gnomAD
COSV52660459703G>Vcosmic curated
rs372045087704A>VESP
ExAC
TOPMed
gnomAD
COSV52655695
rs143997223
705E>KBenign (Ensembl)cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV99324845706P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV99324845
rs779872538
706P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
COSV52655520707F>Lcosmic curated
rs756010220707F>VExAC
TOPMed
gnomAD
COSV104574650708Y>*cosmic curated
COSV52660151
rs1922988557
710R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
rs1172540222710R>HTOPMed
gnomAD
rs1569162684714T>AEnsembl
rs767507128716P>LExAC
TOPMed
gnomAD
rs1922988264716P>STOPMed
COSV106350312717E>*cosmic curated
COSV52655640717E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV52654811718R>Kcosmic curated
rs757267871718R>WExAC
gnomAD
rs1922987708719A>TTOPMed
COSV52654337720D>Hcosmic curated
rs1922987521721P>LTOPMed
COSV99325271722H>Ncosmic curated
rs751621810722H>RExAC
gnomAD
rs1365463869722H>YTOPMed
gnomAD
rs1922986970723A>TEnsembl
rs868571225723A>VEnsembl
rs1433976201724L>PTOPMed
COSV52658120
COSV52659789
725C>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs765583656726V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
dbSNP
rs775615805726V>LExAC
gnomAD
rs775615805726V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
dbSNP
gnomAD
COSV52660958728A>Tcosmic curated
COSV52656778
COSV99325285
730E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV52654316730E>Dcosmic curated
COSV52656778
COSV99325285
730E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV104574671
rs1419969622
732L>Fcosmic curated
gnomAD
COSV52654833
rs144108378
733R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs139374054733R>LESP
ExAC
TOPMed
gnomAD
COSV105095540
TCGA novel
rs139374054
733R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
NCI-TCGA
ESP
ExAC
TOPMed
gnomAD
rs146267364735V>LESP
ExAC
TOPMed
gnomAD
rs146267364735V>MESP
ExAC
TOPMed
gnomAD
rs1922984925736D>AgnomAD
COSV52659079736D>Gcosmic curated
COSV52659953736D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1484742313736D>YgnomAD
rs779637246737S>LExAC
TOPMed
gnomAD
rs779637246737S>WExAC
TOPMed
gnomAD
COSV99324472738A>Tcosmic curated
rs1291385236739Y>HgnomAD
rs1601808897740K>EEnsembl
COSV52655071
rs373915680
741R>Qcosmic curated
ESP
ExAC
TOPMed
gnomAD
COSV105095456
rs368640149
741R>Wcosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1269866635742R>MTOPMed
rs1459872743743Q>*gnomAD
COSV52658677744E>Kcosmic curated
rs1382181090745W>*gnomAD
rs1922983527746F>LEnsembl
rs758474987748T>IExAC
gnomAD
COSV108042627748T>Pcosmic curated
COSV52659872749R>Lcosmic curated
rs1569162625749R>QEnsembl
COSV52658017
rs752952042
749R>Wcosmic curated
ExAC
gnomAD
rs915038481750V>ITOPMed
rs1054561933751D>ETOPMed
rs765383121752P>HExAC
gnomAD
COSV52654477
rs1922982639
752P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
rs1388744142753L>ITOPMed
gnomAD
rs746538476756R>PTOPMed
gnomAD
COSV52654713
rs746538476
756R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV52656225
rs754161302
756R>Wcosmic curated
ExAC
TOPMed
gnomAD
COSV99325168
rs766748417
757D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs1426666676759D>ATOPMed
gnomAD
COSV99324505
rs1922981463
760R>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
rs1922981463760R>QTOPMed
gnomAD
rs566109287760R>WExAC
TOPMed
gnomAD
COSV106350179761G>Dcosmic curated
COSV99324741
rs1922981356
762T>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
gnomAD
COSV52658765
rs1490143209
763V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs762426779764P>HExAC
TOPMed
gnomAD
rs904865380765N>STOPMed
gnomAD
rs904865380765N>TTOPMed
gnomAD
rs775145886766Y>NExAC
gnomAD
COSV52661181
COSV99325171
767Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV52661181767Q>Ecosmic curated
rs1266145511767Q>PgnomAD
rs1329262064768R>GTOPMed
gnomAD
rs759233532769A>GExAC
TOPMed
gnomAD
rs759233532769A>VExAC
TOPMed
gnomAD
rs893656546770Q>*TOPMed
gnomAD
rs1922971127776Q>RTOPMed
rs1052249875779C>YTOPMed
gnomAD
rs746726047781P>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs746726047781P>TVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs777626503782S>PExAC
gnomAD
rs771860683783S>NExAC
TOPMed
gnomAD
rs150625133784R>PVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs150625133784R>QVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV99325305
rs745445545
784R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV52656003
rs750715809
786R>*cosmic curated
ExAC
TOPMed
gnomAD
rs750715809786R>GExAC
TOPMed
gnomAD
rs200567275786R>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2145753993787G>AEnsembl
rs1346193623787G>CTOPMed
gnomAD
rs1346193623787G>STOPMed
gnomAD
rs752151917788P>TExAC
gnomAD
rs764840587789R>CExAC
TOPMed
gnomAD
rs764840587789R>GExAC
TOPMed
gnomAD
rs776297419789R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs776297419789R>PExAC
TOPMed
gnomAD
rs1451759048790S>GgnomAD
rs2145753967791N>SEnsembl
rs1922908502793K>RTOPMed
COSV105095502
rs1922908258
796A>Tcosmic curated
Ensembl
rs1922908107797L>PTOPMed
COSV105095513799Q>*cosmic curated
rs868486484801R>LTOPMed
gnomAD
rs868486484801R>QTOPMed
gnomAD
rs1473413620801R>WTOPMed
gnomAD
rs752102852803V>GExAC
gnomAD
rs376324506804R>KgnomAD
rs376324506804R>MgnomAD
rs1922906931805P>LTOPMed
rs1922907025805P>STOPMed
rs200284070808V>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV52655987
rs200284070
808V>Mcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1922906360810A>SEnsembl
rs1922906360810A>TEnsembl
COSV105095455
rs932339334
810A>Vcosmic curated
TOPMed
gnomAD
rs1340949360811P>AgnomAD
rs1340949360811P>TgnomAD
COSV99325532
rs199550317
813G>Ecosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1404600469813G>RgnomAD
rs775071196814D>EExAC
TOPMed
gnomAD
rs772953149815S>FExAC
gnomAD
rs1396405524815S>PgnomAD
rs772953149815S>YExAC
gnomAD
rs1922905032816P>ATOPMed
gnomAD
COSV52657501
rs1478997200
816P>Lcosmic curated
TOPMed
gnomAD
rs1198194386817D>NgnomAD
rs1476841138818Q>*gnomAD
rs866647212818Q>HTOPMed
gnomAD
rs1325788566820L>PTOPMed
gnomAD
rs1325788566820L>QTOPMed
gnomAD
rs1221651968821L>PgnomAD
rs1922903893823P>LTOPMed
rs761653269824C>YExAC
TOPMed
gnomAD
rs1318283078825A>GgnomAD
rs1318283078825A>VgnomAD
rs1377883556826E>GgnomAD
rs368352079827P>LESP
ExAC
TOPMed
gnomAD
rs368352079827P>RESP
ExAC
TOPMed
gnomAD
rs1000038688827P>STOPMed
rs762848305828E>GExAC
gnomAD
rs1242422269828E>KgnomAD
COSV99325255829R>Lcosmic curated
COSV99325255
rs769750011
829R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
CA10219455
COSV52658550
RCV000416608
rs201794655
829R>W
Primary open angle glaucoma (ClinVar)
Risk factor (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1922852675830S>REnsembl
COSV52656073832R>Gcosmic curated
rs1922852306832R>TTOPMed
rs776581731833P>AExAC
gnomAD
COSV52655974833P>Tcosmic curated
rs1922851453835S>IEnsembl
TCGA novel835S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs200672370836L>S1000Genomes
ExAC
gnomAD
rs1402708053837V>MTOPMed
gnomAD
rs1569161815838R>QTOPMed
COSV52655224
rs1040372062
838R>Wcosmic curated
TOPMed
gnomAD
rs772601712839P>LExAC
TOPMed
gnomAD
TCGA novel839P>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV99324841
rs2145751062
839P>Tcosmic curated
Ensembl
rs1303804777842V>MgnomAD
rs2145751036844A>TEnsembl
COSV99324756846R>Lcosmic curated
COSV52660804846R>Qcosmic curated
COSV52656302
rs755453339
846R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
COSV52659733847P>Hcosmic curated
COSV52654237
rs756882892
848V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs1244806086849V>LTOPMed
COSV52658877849V>Mcosmic curated
rs1922848799850L>VTOPMed
TCGA novel853E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV52659836
rs751254949
856A>Vcosmic curated
ExAC
TOPMed
gnomAD
rs1162555874857P>ATOPMed
gnomAD
rs1162555874857P>STOPMed
gnomAD
rs759424958858R>GExAC
TOPMed
gnomAD
rs776727513858R>QExAC
TOPMed
gnomAD
rs759424958858R>WExAC
TOPMed
gnomAD
rs1922848167859L>VTOPMed
rs1922847936860I>LgnomAD
rs760946767861R>CExAC
TOPMed
gnomAD
rs760946767861R>GExAC
TOPMed
gnomAD
rs1219096640861R>HTOPMed
gnomAD
rs1219096640861R>LTOPMed
gnomAD
COSV52655101863L>Mcosmic curated
COSV52660739865D>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs377214071865D>GESP
ExAC
TOPMed
gnomAD
COSV52659749865D>Hcosmic curated
rs1264941590866L>MTOPMed
gnomAD
rs1219933095867P>SgnomAD
COSV52656413868S>Gcosmic curated
rs774583145868S>NExAC
TOPMed
gnomAD
rs774583145868S>TExAC
TOPMed
gnomAD
COSV52660863869S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TCGA novel869S>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs377599502870R>QExAC
TOPMed
gnomAD
COSV52660873
rs1338972565
870R>Wcosmic curated
TOPMed
gnomAD
COSV52658688
rs1601807176
873F>Lcosmic curated
Ensembl
rs1400260817873F>YgnomAD
rs1364339033874Q>EgnomAD
COSV52658251874Q>Lcosmic curated
rs369567435875V>LESP
ExAC
TOPMed
gnomAD
COSV52661781875V>Mcosmic curated
rs1459047837876C>RgnomAD
rs1922845932877P>SgnomAD
rs148113688878A>VESP
ExAC
gnomAD
rs912668277879E>GTOPMed
rs756125523880S>NExAC
gnomAD
rs1922841237881L>HTOPMed
COSV107248655
rs1344804224
884E>Kcosmic curated
TOPMed
gnomAD
COSV52657215885E>*cosmic curated
rs1253831714885E>DTOPMed
gnomAD
rs758937637886L>PEnsembl
rs767514481886L>VExAC
gnomAD
COSV99324728889S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99324613890S>*cosmic curated
COSV52656839890S>Acosmic curated
rs1307914382890S>LgnomAD
rs762072571891A>VExAC
TOPMed
gnomAD
rs2145750750892P>AEnsembl
COSV52659516893G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99325013894A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs982629477894A>VEnsembl
rs1170996714895P>LgnomAD
COSV52657882895P>Scosmic curated
rs775837657896K>EExAC
TOPMed
gnomAD
rs1158114465896K>MTOPMed
gnomAD
rs770249362896K>NExAC
gnomAD
rs775837657896K>QExAC
TOPMed
gnomAD
COSV52656931
rs1158114465
896K>Rcosmic curated
TOPMed
gnomAD
TCGA novel896K>R
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1681458607899P>RTOPMed
gnomAD
rs1382672416899P>TgnomAD
rs760062870901T>AExAC
TOPMed
gnomAD
rs1442162760901T>IgnomAD
rs188225081902P>L1000Genomes
ExAC
TOPMed
gnomAD
rs1201756278902P>SgnomAD
rs1922838493903G>WEnsembl
rs200604009905G>R1000Genomes
ExAC
TOPMed
gnomAD
rs200604009905G>S1000Genomes
ExAC
TOPMed
gnomAD
COSV105095516906S>Ncosmic curated
rs778483575907R>KExAC
TOPMed
gnomAD
rs374847054909R>GESP
ExAC
TOPMed
gnomAD
rs780025389909R>QExAC
TOPMed
gnomAD
rs374847054909R>WESP
ExAC
TOPMed
gnomAD
rs1922837501913E>ATOPMed
rs1335952575913E>KTOPMed
gnomAD
rs1262605832914S>FTOPMed
gnomAD
COSV52657729915V>Fcosmic curated
rs1396453709915V>LgnomAD
rs1376292899916G>EgnomAD
COSV52660820916G>Vcosmic curated
rs750434059917K>NExAC
gnomAD
COSV52656823918K>Ncosmic curated
rs1210385717920C>YgnomAD
rs1316997109921L>MgnomAD
rs1922814765921L>QTOPMed
rs367817035922L>MESP
ExAC
TOPMed
gnomAD
rs367817035922L>VESP
ExAC
TOPMed
gnomAD
rs1922814490923E>QEnsembl
rs1922814371924L>MEnsembl
COSV52659120925G>Dcosmic curated
rs1488316130925G>STOPMed
gnomAD
rs146425454927R>G1000Genomes
ESP
gnomAD
COSV99324713927R>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1215328517927R>QTOPMed
gnomAD
rs146425454927R>W1000Genomes
ESP
gnomAD
rs1922813515928G>DgnomAD
rs2145750066928G>SEnsembl
rs147081604930R>LESP
ExAC
TOPMed
gnomAD
COSV105095490930R>Ncosmic curated
rs147081604930R>QESP
ExAC
TOPMed
gnomAD
rs759948361930R>WVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1467577558931E>DgnomAD
rs368317452931E>KESP
ExAC
TOPMed
gnomAD
COSV105095488933V>Acosmic curated
rs750814798933V>LEnsembl
rs1476729863934Q>*gnomAD
rs1199409257934Q>HgnomAD
rs1247948624934Q>PgnomAD
rs1247948624934Q>RgnomAD
COSV105095487934Q>Tcosmic curated
rs1476946377935N>DTOPMed
COSV52658514
rs773684555
935N>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV105095486
rs1236350442
935N>Tcosmic curated
gnomAD
rs762662124936E>DVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV52659042936E>Kcosmic curated
rs1922810981937I>TTOPMed
rs769584445938Y>CExAC
TOPMed
gnomAD
rs775342276938Y>HExAC
gnomAD
rs769584445938Y>SExAC
TOPMed
gnomAD
COSV105095501
rs1276704446
939P>Tcosmic curated
gnomAD
COSV108042599
rs1376806433
941V>Icosmic curated
gnomAD
COSV105095461942I>Tcosmic curated
rs1329963752943H>YgnomAD
rs2145749956944V>EEnsembl
COSV105095421944V>Gcosmic curated
rs747019552944V>MExAC
gnomAD
rs1922809720945E>*Ensembl
rs1601806660945E>GEnsembl
rs1922809720945E>QEnsembl
rs1449522956946V>ATOPMed
gnomAD
rs777803433947T>AExAC
gnomAD
rs758543476947T>IExAC
gnomAD
rs758543476947T>NExAC
gnomAD
COSV99325207948E>*cosmic curated
COSV52660402
rs779045150
949K>Ncosmic curated
ExAC
TOPMed
gnomAD
COSV105095460950N>Icosmic curated
rs754109109951V>AExAC
gnomAD
rs570147231951V>IExAC
TOPMed
gnomAD
COSV105095459
rs201030086
952R>Gcosmic curated
1000Genomes
ExAC
gnomAD
COSV99325490952R>Lcosmic curated
COSV99325515
rs750978591
952R>Qcosmic curated
ExAC
gnomAD
rs201030086952R>W1000Genomes
ExAC
gnomAD
rs2145749913953E>DEnsembl
COSV52660052
rs866189318
953E>Kcosmic curated
Ensembl
rs2145749914953E>VEnsembl
COSV105095458954V>Acosmic curated
rs1922808170954V>FEnsembl
rs2145749905955R>GEnsembl
rs866859332955R>SEnsembl
rs2145749905955R>WEnsembl
rs2145748592956G>SEnsembl
rs1280391845956G>VTOPMed
rs1214418943958L>QTOPMed
gnomAD
rs1922768189959G>VEnsembl
rs1418352611960R>LTOPMed
gnomAD
rs1418352611960R>PTOPMed
gnomAD
COSV52659806
rs1418352611
960R>Qcosmic curated
TOPMed
gnomAD
rs1406830755960R>WTOPMed
gnomAD
rs757872768961P>LExAC
TOPMed
gnomAD
rs1188845325961P>STOPMed
gnomAD
rs1261380791962G>SgnomAD
rs752206981962G>VExAC
TOPMed
gnomAD
rs1922767123963W>CgnomAD
rs866983217964R>LTOPMed
gnomAD
rs866983217964R>QTOPMed
gnomAD
rs867492441964R>WTOPMed
gnomAD
rs571217648965D>Y1000Genomes
COSV52655558968L>Vcosmic curated
rs187194563970R>L1000Genomes
ExAC
TOPMed
gnomAD
rs187194563970R>Q1000Genomes
ExAC
TOPMed
gnomAD
rs1220042061970R>WTOPMed
gnomAD
rs1922766226972C>*Ensembl
rs766077944972C>RExAC
gnomAD
rs375242212973R>C1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375242212973R>G1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772992149973R>HExAC
TOPMed
gnomAD
rs1382278072974G>DgnomAD
COSV99052987974G>Vcosmic curated
COSV52657160
rs761759300
975S>*cosmic curated
ExAC
TOPMed
gnomAD
rs761759300975S>LExAC
TOPMed
gnomAD
rs774390573977Q>KExAC
gnomAD
rs1169684575977Q>RgnomAD
rs1922765261978V>LEnsembl
rs1463901551981G>RgnomAD
rs1463901551981G>WgnomAD
rs1922764592983P>HTOPMed
rs1922764592983P>RTOPMed
COSV105095539985S>Fcosmic curated
rs1922764226986W>*TOPMed
gnomAD
rs1922764132986W>CEnsembl
rs1922764226986W>LTOPMed
gnomAD
COSV52658901987V>Lcosmic curated
rs2145748471987V>MEnsembl
rs866534007988Q>*Ensembl
rs1429156796988Q>HgnomAD
rs1266765777990P>STOPMed
gnomAD
rs1266765777990P>TTOPMed
gnomAD
rs1220285056991A>DTOPMed
gnomAD
rs769913613991A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs1220285056991A>VTOPMed
gnomAD
COSV105821421
rs1922763334
992H>Rcosmic curated
TOPMed
rs1254254046993E>KTOPMed
gnomAD
rs1198374842994W>RgnomAD
rs1922762994995G>RTOPMed
rs979594668997A>STOPMed
gnomAD
COSV52659062
rs979594668
997A>Tcosmic curated
TOPMed
gnomAD
COSV1045746821000L>Mcosmic curated
rs19227623591000L>VgnomAD
rs19227622451001A>TEnsembl
rs5483968211002K>R1000Genomes
TOPMed
rs19227620341003V>MgnomAD
rs7521556311004V>AExAC
gnomAD
COSV52658296
rs867607360
1005R>Ccosmic curated
TOPMed
gnomAD
rs9642106481005R>HTOPMed
gnomAD
rs9642106481005R>LTOPMed
gnomAD
rs8676073601005R>STOPMed
gnomAD
COSV99325400
rs1008908544
1006G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs7533051361007R>CVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV52656051
rs367945431
1007R>Hcosmic curated
ESP
ExAC
TOPMed
gnomAD
rs3679454311007R>LESP
ExAC
TOPMed
gnomAD
rs3679454311007R>PESP
ExAC
TOPMed
gnomAD
rs19227605651010Q>KEnsembl
rs19227604571010Q>RTOPMed
COSV526552381011E>*cosmic curated
COSV526555821013A>Dcosmic curated
COSV106350238
rs374790050
1013A>Tcosmic curated
ESP
ExAC
TOPMed
gnomAD
rs19227599161013A>VTOPMed
COSV52660033
rs1377342033
1014R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs11740374421014R>H1000Genomes
TOPMed
gnomAD
rs11740374421014R>L1000Genomes
TOPMed
gnomAD
rs8985761901015L>FTOPMed
rs8985761901015L>VTOPMed
rs10495946711016V>MTOPMed
gnomAD
rs14566895191019E>AgnomAD
rs12531120301019E>DgnomAD
rs2005535611019E>QVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs7686043451020C>FExAC
gnomAD
rs16018059971020C>GgnomAD
rs16018059971020C>RgnomAD
rs7686043451020C>YExAC
gnomAD
rs21457483251021G>DEnsembl
COSV99325385
rs374528990
1021G>Scosmic curated
ExAC
TOPMed
gnomAD
COSV526585631022S>Gcosmic curated
rs12123732041023S>GgnomAD
rs7700110811023S>IExAC
gnomAD
rs7461432171025G>AExAC
TOPMed
gnomAD
rs12378728811025G>CgnomAD
COSV107248647
rs151290630
1026C>YBenign (Ensembl)cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs19227558961027P>TTOPMed
rs13113454361029S>NgnomAD
rs8682140581029S>RgnomAD
COSV52654498
rs1569161077
1030S>Icosmic curated
Ensembl
COSV1063503151030S>Ncosmic curated
rs16018059611030S>REnsembl
COSV993253351032A>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs14531125841033*>LTOPMed
gnomAD
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