CRKL
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
BLCA222127228321272283+Missense_MutationSNPCCTTCGA-KQ-A41R-01A-21D-A34U-08TCGA-KQ-A41R-10G-01D-A34X-08g.chr22:21272283C>Tc.61C>Tc.(61-63)Cgc>Tgcp.R21C
BLCA222127230321272303+SilentSNPGGATCGA-DK-A2I4-01A-11D-A21A-08TCGA-DK-A2I4-10A-01D-A21A-08g.chr22:21272303G>Ac.81G>Ac.(79-81)cgG>cgAp.R27R
BRCA222127229621272296+Missense_MutationSNPAAGTCGA-C8-A130-01A-31D-A10Y-09TCGA-C8-A130-10A-01D-A110-09g.chr22:21272296A>Gc.74A>Gc.(73-75)cAg>cGgp.Q25R
CHOL222130404321304043+Missense_MutationSNPGGTTCGA-W5-AA2G-01A-11D-A417-09TCGA-W5-AA2G-10A-01D-A41A-09g.chr22:21304043G>Tc.822G>Tc.(820-822)caG>caTp.Q274H
COAD222127235821272358+Missense_MutationSNPGGTTCGA-G4-6628-01A-11D-1835-10TCGA-G4-6628-10A-01D-1835-10g.chr22:21272358G>Tc.136G>Tc.(136-138)Ggg>Tggp.G46W
COAD222128809821288098+Missense_MutationSNPGGATCGA-G4-6304-01A-11D-1924-10TCGA-G4-6304-10A-01D-1924-10g.chr22:21288098G>Ac.343G>Ac.(343-345)Gca>Acap.A115T
COAD222128818921288189+Missense_MutationSNPAACTCGA-AA-A00N-01A-02W-A00E-09TCGA-AA-A00N-10A-01W-A00E-09g.chr22:21288189A>Cc.434A>Cc.(433-435)aAa>aCap.K145T
COAD222128836921288369+Missense_MutationSNPAAGTCGA-AA-3492-01A-01D-1408-10TCGA-AA-3492-11A-01D-1408-10g.chr22:21288369A>Gc.614A>Gc.(613-615)cAt>cGtp.H205R
COAD222130406621304066+Missense_MutationSNPGGATCGA-AA-3877-01A-01W-0995-10TCGA-AA-3877-10A-01W-0995-10g.chr22:21304066G>Ac.845G>Ac.(844-846)cGc>cAcp.R282H
COADREAD222127235821272358+Missense_MutationSNPGGTTCGA-G4-6628-01A-11D-1835-10TCGA-G4-6628-10A-01D-1835-10g.chr22:21272358G>Tc.136G>Tc.(136-138)Ggg>Tggp.G46W
COADREAD222128809821288098+Missense_MutationSNPGGATCGA-G4-6304-01A-11D-1924-10TCGA-G4-6304-10A-01D-1924-10g.chr22:21288098G>Ac.343G>Ac.(343-345)Gca>Acap.A115T
COADREAD222128818921288189+Missense_MutationSNPAACTCGA-AA-A00N-01A-02W-A00E-09TCGA-AA-A00N-10A-01W-A00E-09g.chr22:21288189A>Cc.434A>Cc.(433-435)aAa>aCap.K145T
COADREAD222128836921288369+Missense_MutationSNPAAGTCGA-AA-3492-01A-01D-1408-10TCGA-AA-3492-11A-01D-1408-10g.chr22:21288369A>Gc.614A>Gc.(613-615)cAt>cGtp.H205R
COADREAD222128847521288475+SilentSNPGGATCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr22:21288475G>Ac.720G>Ac.(718-720)gcG>gcAp.A240A
COADREAD222130406621304066+Missense_MutationSNPGGATCGA-AA-3877-01A-01W-0995-10TCGA-AA-3877-10A-01W-0995-10g.chr22:21304066G>Ac.845G>Ac.(844-846)cGc>cAcp.R282H
DLBC222127224921272249+SilentSNPGGATCGA-G8-6325-01A-11D-2210-10TCGA-G8-6325-10A-01D-2210-10g.chr22:21272249G>Ac.27G>Ac.(25-27)tcG>tcAp.S9S
ESCA222127249921272499+SilentSNPCCTTCGA-LN-A4A6-01A-11D-A27G-09TCGA-LN-A4A6-10A-01D-A27G-09g.chr22:21272499C>Tc.277C>Tc.(277-279)Ctg>Ttgp.L93L
GBM222127252721272527+Missense_MutationSNPCCTTCGA-32-2638-01A-01D-1495-08TCGA-32-2638-10A-01D-1495-08g.chr22:21272527C>Tc.305C>Tc.(304-306)gCg>gTgp.A102V
GBMLGG222127252721272527+Missense_MutationSNPCCTTCGA-32-2638-01A-01D-1495-08TCGA-32-2638-10A-01D-1495-08g.chr22:21272527C>Tc.305C>Tc.(304-306)gCg>gTgp.A102V
GBMLGG222128837121288371+Missense_MutationSNPGGATCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr22:21288371G>Ac.616G>Ac.(616-618)Gca>Acap.A206T
GBMLGG222130408821304088+SilentSNPGGATCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr22:21304088G>Ac.867G>Ac.(865-867)acG>acAp.T289T
HNSC222127251921272519+Missense_MutationSNPCCGTCGA-CV-A6JE-01A-11D-A31L-08TCGA-CV-A6JE-10A-01D-A31J-08g.chr22:21272519C>Gc.297C>Gc.(295-297)atC>atGp.I99M
HNSC222130405321304053+Missense_MutationSNPGGATCGA-CV-5444-01A-02D-1512-08TCGA-CV-5444-11A-01D-1512-08g.chr22:21304053G>Ac.832G>Ac.(832-834)Gaa>Aaap.E278K
HNSC222130407521304075+Frame_Shift_DelDELTT-TCGA-IQ-A61H-01A-11D-A30E-08TCGA-IQ-A61H-10A-01D-A30H-08g.chr22:21304075delTc.854delTc.(853-855)cttfsp.L285fs
LGG222128837121288371+Missense_MutationSNPGGATCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr22:21288371G>Ac.616G>Ac.(616-618)Gca>Acap.A206T
LGG222130408821304088+SilentSNPGGATCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr22:21304088G>Ac.867G>Ac.(865-867)acG>acAp.T289T
LUAD222127246021272460+Missense_MutationSNPCCGTCGA-69-A59K-01A-11D-A25L-08TCGA-69-A59K-10A-01D-A25L-08g.chr22:21272460C>Gc.238C>Gc.(238-240)Cat>Gatp.H80D
LUAD222128814621288146+Missense_MutationSNPCCGTCGA-49-4486-01A-01D-1265-08TCGA-49-4486-11A-01D-1265-08g.chr22:21288146C>Gc.391C>Gc.(391-393)Ctg>Gtgp.L131V
LUAD222128824621288246+Missense_MutationSNPGGATCGA-55-8203-01A-11D-2238-08TCGA-55-8203-10A-01D-2238-08g.chr22:21288246G>Ac.491G>Ac.(490-492)cGg>cAgp.R164Q
LUAD222128842721288427+SilentSNPGGTTCGA-86-8673-01A-11D-2393-08TCGA-86-8673-10A-01D-2393-08g.chr22:21288427G>Tc.672G>Tc.(670-672)ggG>ggTp.G224G
LUAD222128842821288428+Missense_MutationSNPGGTTCGA-86-8673-01A-11D-2393-08TCGA-86-8673-10A-01D-2393-08g.chr22:21288428G>Tc.673G>Tc.(673-675)Gca>Tcap.A225S
LUSC222128820321288203+SilentSNPCCTTCGA-85-6561-01A-11D-1817-08TCGA-85-6561-10A-01D-1817-08g.chr22:21288203C>Tc.448C>Tc.(448-450)Cta>Ttap.L150L
LUSC222128838621288386+Missense_MutationSNPCCGTCGA-63-5131-01A-01D-1441-08TCGA-63-5131-10A-01D-1441-08g.chr22:21288386C>Gc.631C>Gc.(631-633)Cag>Gagp.Q211E
LUSC222128852621288526+SilentSNPAACTCGA-46-3769-01A-01D-0983-08TCGA-46-3769-10A-01D-0983-08g.chr22:21288526A>Cc.771A>Cc.(769-771)gcA>gcCp.A257A
PAAD222128817221288172+SilentSNPCCATCGA-2J-AAB8-01A-12D-A40W-08TCGA-2J-AAB8-10A-01D-A40W-08g.chr22:21288172C>Ac.417C>Ac.(415-417)gcC>gcAp.A139A
READ222128847521288475+SilentSNPGGATCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr22:21288475G>Ac.720G>Ac.(718-720)gcG>gcAp.A240A
SKCM222128822221288222+Missense_MutationSNPCCTTCGA-ER-A198-06A-11D-A196-08TCGA-ER-A198-10A-01D-A198-08g.chr22:21288222C>Tc.467C>Tc.(466-468)cCt>cTtp.P156L
SKCM222130407521304075+Frame_Shift_DelDELTT-TCGA-D3-A1Q3-06A-11D-A196-08TCGA-D3-A1Q3-10A-01D-A198-08g.chr22:21304075delTc.854delTc.(853-855)cttfsp.L285fs
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-CN222127224821272248single base substitutionCTexon_variant
BLCA-CN222127224821272248single base substitutionCTmissense_variantS9L26C>T
BLCA-CN222128809621288096single base substitutionCTexon_variant
BLCA-CN222128809621288096single base substitutionCTmissense_variantS114L341C>T
BLCA-US222127230321272303single base substitutionGAexon_variant
BLCA-US222127230321272303single base substitutionGAsynonymous_variantR27R81G>A
BRCA-EU222126673421266734single base substitutionCGupstream_gene_variant
BRCA-EU222126856321268563single base substitutionAGupstream_gene_variant
BRCA-EU222126903821269038single base substitutionGAupstream_gene_variant
BRCA-EU222127153221271532single base substitutionGAupstream_gene_variant
BRCA-EU222127238221272382single base substitutionGAexon_variant
BRCA-EU222127238221272382single base substitutionGAmissense_variantE54K160G>A
BRCA-EU222127313421273134single base substitutionTGintron_variant
BRCA-EU222127404621274046single base substitutionCTintron_variant
BRCA-EU222127434021274340single base substitutionGCintron_variant
BRCA-EU222127468021274680single base substitutionCTintron_variant
BRCA-EU222127468221274682single base substitutionCTintron_variant
BRCA-EU222127570221275702single base substitutionGAintron_variant
BRCA-EU222127665921276659single base substitutionACintron_variant
BRCA-EU222127766421277664single base substitutionAGintron_variant
BRCA-EU222127773521277735single base substitutionTCintron_variant
BRCA-EU222127780021277800single base substitutionCTintron_variant
BRCA-EU222128002421280024single base substitutionAGintron_variant
BRCA-EU222128057421280574single base substitutionGTintron_variant
BRCA-EU222128159921281599single base substitutionCTintron_variant
BRCA-EU222128180321281803single base substitutionTGintron_variant
BRCA-EU222128321421283214single base substitutionAGintron_variant
BRCA-EU222128364421283644single base substitutionGTintron_variant
BRCA-EU222128390121283901single base substitutionGAintron_variant
BRCA-EU222128400121284001single base substitutionGAintron_variant
BRCA-EU222128567621285676single base substitutionGAintron_variant
BRCA-EU222128817221288172single base substitutionCGexon_variant
BRCA-EU222128817221288172single base substitutionCGsynonymous_variantA139A417C>G
BRCA-EU222128917921289179single base substitutionGCintron_variant
BRCA-EU222129153221291532single base substitutionGCintron_variant
BRCA-EU222129166921291669single base substitutionCTintron_variant
BRCA-EU222129254921292549single base substitutionCGintron_variant
BRCA-EU222129446521294465single base substitutionAGintron_variant
BRCA-EU222129724721297247single base substitutionCAintron_variant
BRCA-EU222129729621297296deletion of <=200bpA-intron_variant
BRCA-EU222129756221297562single base substitutionCTintron_variant
BRCA-EU222129964721299647single base substitutionCTintron_variant
BRCA-EU222130328821303288single base substitutionGCintron_variant
BRCA-EU222130487421304874single base substitutionTC3_prime_UTR_variant
BRCA-EU222130487421304874single base substitutionTCintron_variant
BRCA-EU222130507621305076single base substitutionTC3_prime_UTR_variant
BRCA-EU222130507621305076single base substitutionTCintron_variant
BRCA-EU222130554721305547single base substitutionAG3_prime_UTR_variant
BRCA-EU222130554721305547single base substitutionAGintron_variant
BRCA-EU222130568621305686single base substitutionGA3_prime_UTR_variant
BRCA-EU222130568621305686single base substitutionGAintron_variant
BRCA-EU222130571621305716single base substitutionGC3_prime_UTR_variant
BRCA-EU222130571621305716single base substitutionGCintron_variant
BRCA-EU222130676421306764single base substitutionTG3_prime_UTR_variant
BRCA-EU222130676421306764single base substitutionTGintron_variant
BRCA-EU222130840521308405single base substitutionCTdownstream_gene_variant
BRCA-EU222130847021308470single base substitutionGCdownstream_gene_variant
BRCA-EU222130864821308648single base substitutionCTdownstream_gene_variant
BRCA-EU222130998321309983single base substitutionGAdownstream_gene_variant
BRCA-EU222131015321310153single base substitutionTCdownstream_gene_variant
BRCA-EU222131200921312009single base substitutionCTdownstream_gene_variant
BRCA-EU222131240321312403single base substitutionGAdownstream_gene_variant
BRCA-FR222126673421266734single base substitutionCGupstream_gene_variant
BRCA-FR222126903821269038single base substitutionGAupstream_gene_variant
BRCA-FR222127130721271307single base substitutionCTupstream_gene_variant
BRCA-FR222127153221271532single base substitutionGAupstream_gene_variant
BRCA-FR222127238221272382single base substitutionGAexon_variant
BRCA-FR222127238221272382single base substitutionGAmissense_variantE54K160G>A
BRCA-FR222127404621274046single base substitutionCTintron_variant
BRCA-FR222127468021274680single base substitutionCTintron_variant
BRCA-FR222127468221274682single base substitutionCTintron_variant
BRCA-FR222127766421277664single base substitutionAGintron_variant
BRCA-FR222128881421288814single base substitutionAGintron_variant
BRCA-FR222130328821303288single base substitutionGCintron_variant
BRCA-FR222130864821308648single base substitutionCTdownstream_gene_variant
BRCA-FR222131200921312009single base substitutionCTdownstream_gene_variant
BRCA-UK222127570221275702single base substitutionGAintron_variant
BRCA-UK222128917921289179single base substitutionGCintron_variant
BRCA-UK222131221721312217single base substitutionCGdownstream_gene_variant
BRCA-US222127229621272296single base substitutionAGexon_variant
BRCA-US222127229621272296single base substitutionAGmissense_variantQ25R74A>G
CLLE-ES222127567221275672single base substitutionATintron_variant
CLLE-ES222127936921279369single base substitutionCTintron_variant
CLLE-ES222130832121308321single base substitutionCAdownstream_gene_variant
COAD-US222127235821272358single base substitutionGTexon_variant
COAD-US222127235821272358single base substitutionGTmissense_variantG46W136G>T
COAD-US222128836921288369single base substitutionAGexon_variant
COAD-US222128836921288369single base substitutionAGmissense_variantH205R614A>G
COCA-CN222131153121311531single base substitutionCTdownstream_gene_variant
ESAD-UK222126972121269721single base substitutionGCupstream_gene_variant
ESAD-UK222127093721270939deletion of <=200bpAAG-upstream_gene_variant
ESAD-UK222127275021272750single base substitutionCTintron_variant
ESAD-UK222127507521275075single base substitutionCTintron_variant
ESAD-UK222127644521276445single base substitutionGAintron_variant
ESAD-UK222127797021277970single base substitutionCTintron_variant
ESAD-UK222128038121280381single base substitutionATintron_variant
ESAD-UK222128187321281873single base substitutionGAintron_variant
ESAD-UK222128199121281991single base substitutionCTintron_variant
ESAD-UK222128277421282774single base substitutionACintron_variant
ESAD-UK222128364921283649single base substitutionTGintron_variant
ESAD-UK222128422221284222single base substitutionCGintron_variant
ESAD-UK222128492121284921single base substitutionCTintron_variant
ESAD-UK222128569421285694single base substitutionCGintron_variant
ESAD-UK222128721921287219single base substitutionTGintron_variant
ESAD-UK222129323121293231single base substitutionCTintron_variant
ESAD-UK222129834121298341deletion of <=200bpG-intron_variant
ESAD-UK222130100121301001insertion of <=200bp-Cintron_variant
ESAD-UK222130102121301021single base substitutionACintron_variant
ESAD-UK222130299021302990single base substitutionGAintron_variant
ESAD-UK222130688621306886single base substitutionCT3_prime_UTR_variant
ESAD-UK222130688621306886single base substitutionCTintron_variant
ESAD-UK222131150221311502single base substitutionCGdownstream_gene_variant
ESCA-CN222127241321272413single base substitutionATexon_variant
ESCA-CN222127241321272413single base substitutionATmissense_variantN64I191A>T
GBM-US222127252721272527single base substitutionCTexon_variant
GBM-US222127252721272527single base substitutionCTmissense_variantA102V305C>T
KIRP-US222127225921272259single base substitutionGCexon_variant
KIRP-US222127225921272259single base substitutionGCmissense_variantA13P37G>C
LAML-KR222127607621276076single base substitutionACintron_variant
LAML-KR222127610021276100single base substitutionCTintron_variant
LAML-KR222127923421279234single base substitutionGTintron_variant
LAML-KR222128999821289998single base substitutionGTintron_variant
LAML-KR222129353521293535single base substitutionTCintron_variant
LICA-FR222126929721269297single base substitutionTAupstream_gene_variant
LICA-FR222127240421272416deletion of <=200bpACATCATCAACTC-exon_variant
LICA-FR222127240421272416deletion of <=200bpACATCATCAACTC-frameshift_variantYIINS61
LICA-FR222129844921298449single base substitutionATintron_variant
LICA-FR222130196521301967deletion of <=200bpTTT-intron_variant
LINC-JP222127273021272730single base substitutionTCintron_variant
LINC-JP222127522321275229deletion of <=200bpCATTTTC-intron_variant
LINC-JP222128395121283951single base substitutionAGintron_variant
LINC-JP222129315821293158single base substitutionAGintron_variant
LINC-JP222129516821295168single base substitutionAGintron_variant
LINC-JP222129845421298454single base substitutionCTintron_variant
LINC-JP222130462721304627single base substitutionCT3_prime_UTR_variant
LINC-JP222130462721304627single base substitutionCTintron_variant
LIRI-JP222126927121269271single base substitutionAGupstream_gene_variant
LIRI-JP222127192921271929single base substitutionGT5_prime_UTR_variant
LIRI-JP222127735021277350single base substitutionCAintron_variant
LIRI-JP222127841521278415single base substitutionATintron_variant
LIRI-JP222127858821278588single base substitutionAGintron_variant
LIRI-JP222128016821280168single base substitutionAGintron_variant
LIRI-JP222128321821283218single base substitutionATintron_variant
LIRI-JP222128335921283359single base substitutionTGintron_variant
LIRI-JP222128442921284429single base substitutionTAintron_variant
LIRI-JP222128481721284817single base substitutionGAintron_variant
LIRI-JP222128566821285668single base substitutionGAintron_variant
LIRI-JP222128822021288220single base substitutionGAexon_variant
LIRI-JP222128822021288220single base substitutionGAsynonymous_variantK155K465G>A
LIRI-JP222129129821291298single base substitutionGAintron_variant
LIRI-JP222129196721291967single base substitutionTAintron_variant
LIRI-JP222129197121291971single base substitutionCGintron_variant
LIRI-JP222129197221291972single base substitutionCTintron_variant
LIRI-JP222129296621292966single base substitutionAGintron_variant
LIRI-JP222129346821293468single base substitutionGAintron_variant
LIRI-JP222129381421293814single base substitutionGAintron_variant
LIRI-JP222129806821298068single base substitutionCTintron_variant
LIRI-JP222129974521299745single base substitutionCTintron_variant
LIRI-JP222130004021300040single base substitutionGAintron_variant
LIRI-JP222130024021300240single base substitutionGAintron_variant
LIRI-JP222130038021300380single base substitutionGTintron_variant
LIRI-JP222130041821300418single base substitutionATintron_variant
LIRI-JP222130097521300975single base substitutionAGintron_variant
LIRI-JP222130695821306980deletion of <=200bpGCTCTGCTCTACCATGTTTAAAG-3_prime_UTR_variant
LIRI-JP222130695821306980deletion of <=200bpGCTCTGCTCTACCATGTTTAAAG-intron_variant
LIRI-JP222130741621307416single base substitutionGC3_prime_UTR_variant
LIRI-JP222130741621307416single base substitutionGCintron_variant
LIRI-JP222130930021309300single base substitutionGAdownstream_gene_variant
LIRI-JP222130984221309842single base substitutionTGdownstream_gene_variant
LIRI-JP222131126421311264single base substitutionGAdownstream_gene_variant
LUSC-KR222127121521271215single base substitutionCAupstream_gene_variant
LUSC-KR222127785421277854single base substitutionCTintron_variant
LUSC-KR222128251121282511single base substitutionGAintron_variant
LUSC-KR222129153221291532single base substitutionGTintron_variant
LUSC-KR222129932021299320single base substitutionCTintron_variant
LUSC-KR222129960321299603single base substitutionCTintron_variant
LUSC-KR222130346021303460single base substitutionCGintron_variant
LUSC-US222128820321288203single base substitutionCTexon_variant
LUSC-US222128820321288203single base substitutionCTsynonymous_variantL150L448C>T
LUSC-US222128838621288386single base substitutionCGexon_variant
LUSC-US222128838621288386single base substitutionCGmissense_variantQ211E631C>G
LUSC-US222128852621288526single base substitutionACexon_variant
LUSC-US222128852621288526single base substitutionACsynonymous_variantA257A771A>C
MALY-DE222127037121270371single base substitutionCAupstream_gene_variant
MALY-DE222127430021274300single base substitutionTAintron_variant
MALY-DE222127525021275250single base substitutionTGintron_variant
MALY-DE222127580421275804insertion of <=200bp-ACAGGAGGGACCTGTATAintron_variant
MALY-DE222127879921278799single base substitutionCTintron_variant
MALY-DE222128303721283037single base substitutionGAintron_variant
MALY-DE222128449321284493single base substitutionAGintron_variant
MALY-DE222128857821288578single base substitutionTCintron_variant
MALY-DE222129007121290071single base substitutionGAintron_variant
MALY-DE222129097621290976single base substitutionGTintron_variant
MALY-DE222130339921303400deletion of <=200bpTG-intron_variant
MALY-DE222130816121308161single base substitutionCTdownstream_gene_variant
MALY-DE222130973721309737single base substitutionTGdownstream_gene_variant
MELA-AU222126677121266771single base substitutionCTupstream_gene_variant
MELA-AU222126680321266803single base substitutionTAupstream_gene_variant
MELA-AU222126710621267106single base substitutionAGupstream_gene_variant
MELA-AU222126725121267252multiple base substitution (>=2bp and <=200bp)GGAAupstream_gene_variant
MELA-AU222126750021267500single base substitutionCTupstream_gene_variant
MELA-AU222126759321267593single base substitutionCTupstream_gene_variant
MELA-AU222126760421267604single base substitutionGAupstream_gene_variant
MELA-AU222126812921268129single base substitutionGAupstream_gene_variant
MELA-AU222126836221268362single base substitutionGAupstream_gene_variant
MELA-AU222126848821268488single base substitutionCTupstream_gene_variant
MELA-AU222126911021269110single base substitutionGAupstream_gene_variant
MELA-AU222126930221269302single base substitutionGAupstream_gene_variant
MELA-AU222127001921270019single base substitutionGAupstream_gene_variant
MELA-AU222127004421270044single base substitutionCTupstream_gene_variant
MELA-AU222127043921270439single base substitutionGAupstream_gene_variant
MELA-AU222127089921270899single base substitutionGAupstream_gene_variant
MELA-AU222127213621272136deletion of <=200bpC-5_prime_UTR_variant
MELA-AU222127282621272826single base substitutionAGintron_variant
MELA-AU222127285321272853single base substitutionGAintron_variant
MELA-AU222127357621273576single base substitutionCTintron_variant
MELA-AU222127489021274890single base substitutionTCintron_variant
MELA-AU222127508521275085single base substitutionCTintron_variant
MELA-AU222127533321275333single base substitutionCTintron_variant
MELA-AU222127543621275436single base substitutionAGintron_variant
MELA-AU222127633521276335single base substitutionTGintron_variant
MELA-AU222127641021276410single base substitutionCTintron_variant
MELA-AU222127683521276835single base substitutionGAintron_variant
MELA-AU222127718621277186single base substitutionCAintron_variant
MELA-AU222127795921277959single base substitutionTCintron_variant
MELA-AU222127826221278262single base substitutionCTintron_variant
MELA-AU222127863221278632single base substitutionCTintron_variant
MELA-AU222127950421279504single base substitutionCTintron_variant
MELA-AU222127958021279580single base substitutionCGintron_variant
MELA-AU222127980421279804single base substitutionGAintron_variant
MELA-AU222127993621279936single base substitutionGAintron_variant
MELA-AU222128009821280098single base substitutionTAintron_variant
MELA-AU222128047621280476single base substitutionGAintron_variant
MELA-AU222128077321280773single base substitutionGTintron_variant
MELA-AU222128138321281383single base substitutionGAintron_variant
MELA-AU222128139321281393single base substitutionCTintron_variant
MELA-AU222128281521282815single base substitutionAGintron_variant
MELA-AU222128322821283228single base substitutionGAintron_variant
MELA-AU222128368821283688single base substitutionCTintron_variant
MELA-AU222128383121283831single base substitutionACintron_variant
MELA-AU222128408321284083single base substitutionGAintron_variant
MELA-AU222128434721284347single base substitutionTAintron_variant
MELA-AU222128883621288836single base substitutionTCintron_variant
MELA-AU222128929721289297single base substitutionTCintron_variant
MELA-AU222129007021290070single base substitutionCTintron_variant
MELA-AU222129037121290371single base substitutionCTintron_variant
MELA-AU222129046421290464single base substitutionATintron_variant
MELA-AU222129083721290837single base substitutionCTintron_variant
MELA-AU222129179321291793single base substitutionGAintron_variant
MELA-AU222129224521292245single base substitutionCTintron_variant
MELA-AU222129254021292540single base substitutionTAintron_variant
MELA-AU222129254521292545single base substitutionTCintron_variant
MELA-AU222129325321293253single base substitutionATintron_variant
MELA-AU222129384521293845single base substitutionCTintron_variant
MELA-AU222129396921293969single base substitutionGAintron_variant
MELA-AU222129533421295334single base substitutionGAintron_variant
MELA-AU222129728121297281single base substitutionCTintron_variant
MELA-AU222129807621298077multiple base substitution (>=2bp and <=200bp)TTAGintron_variant
MELA-AU222129904621299046single base substitutionTCintron_variant
MELA-AU222129926721299267single base substitutionCTintron_variant
MELA-AU222129931221299312single base substitutionCTintron_variant
MELA-AU222129965221299652single base substitutionCTintron_variant
MELA-AU222130044521300446multiple base substitution (>=2bp and <=200bp)CCTTintron_variant
MELA-AU222130206621302066single base substitutionCTintron_variant
MELA-AU222130226721302267single base substitutionCTintron_variant
MELA-AU222130237521302375single base substitutionCTintron_variant
MELA-AU222130334421303344single base substitutionCTintron_variant
MELA-AU222130390921303909single base substitutionCTintron_variant
MELA-AU222130410721304108multiple base substitution (>=2bp and <=200bp)CCTTexon_variant
MELA-AU222130410721304108multiple base substitution (>=2bp and <=200bp)CCTTmissense_variantP296F886CC>TT
MELA-AU222130529221305292single base substitutionCT3_prime_UTR_variant
MELA-AU222130529221305292single base substitutionCTintron_variant
MELA-AU222130547621305476single base substitutionCT3_prime_UTR_variant
MELA-AU222130547621305476single base substitutionCTintron_variant
MELA-AU222130594021305940single base substitutionCT3_prime_UTR_variant
MELA-AU222130594021305940single base substitutionCTintron_variant
MELA-AU222130817321308173single base substitutionCTdownstream_gene_variant
MELA-AU222130853021308530single base substitutionGTdownstream_gene_variant
ORCA-IN222127039921270399single base substitutionGAupstream_gene_variant
ORCA-IN222127247121272471single base substitutionCAexon_variant
ORCA-IN222127247121272471single base substitutionCAsynonymous_variantA83A249C>A
ORCA-IN222128848721288487single base substitutionGCexon_variant
ORCA-IN222128848721288487single base substitutionGCmissense_variantQ244H732G>C
ORCA-IN222129879521298795single base substitutionCTintron_variant
ORCA-IN222129919121299191single base substitutionAGintron_variant
ORCA-IN222130771221307712single base substitutionAC3_prime_UTR_variant
OV-AU222126842621268426single base substitutionCTupstream_gene_variant
OV-AU222127079221270792single base substitutionGAupstream_gene_variant
OV-AU222127097221270972single base substitutionACupstream_gene_variant
OV-AU222128350221283502single base substitutionGCintron_variant
OV-AU222128974021289740single base substitutionTCintron_variant
OV-AU222129252121292521single base substitutionCAintron_variant
OV-AU222129873921298739single base substitutionCGintron_variant
OV-AU222130467821304678single base substitutionGT3_prime_UTR_variant
OV-AU222130467821304678single base substitutionGTintron_variant
OV-AU222130913421309134single base substitutionCGdownstream_gene_variant
OV-AU222131125021311250single base substitutionGCdownstream_gene_variant
PACA-AU222126672521266725single base substitutionGAupstream_gene_variant
PACA-AU222126845921268459single base substitutionGAupstream_gene_variant
PACA-AU222127063221270632single base substitutionTAupstream_gene_variant
PACA-AU222127697421276974deletion of <=200bpT-intron_variant
PACA-AU222128133621281336single base substitutionATintron_variant
PACA-AU222128169621281696single base substitutionTGintron_variant
PACA-AU222128343721283441deletion of <=200bpATTTT-intron_variant
PACA-AU222129338221293382single base substitutionCTintron_variant
PACA-AU222129681921296826deletion of <=200bpACATTGAC-intron_variant
PACA-AU222129754221297542single base substitutionGCintron_variant
PACA-AU222129754821297548single base substitutionGTintron_variant
PACA-AU222130139121301391single base substitutionGAintron_variant
PACA-AU222130843321308433single base substitutionCTdownstream_gene_variant
PACA-CA222127147521271475single base substitutionCTupstream_gene_variant
PACA-CA222127900921279009single base substitutionGAintron_variant
PACA-CA222128021821280218single base substitutionTCintron_variant
PACA-CA222128673121286731insertion of <=200bp-Tintron_variant
PACA-CA222128736921287369deletion of <=200bpA-intron_variant
PACA-CA222128840921288409single base substitutionACexon_variant
PACA-CA222128840921288409single base substitutionACsynonymous_variantA218A654A>C
PACA-CA222129253821292538deletion of <=200bpT-intron_variant
PACA-CA222130348321303483single base substitutionGAintron_variant
PACA-CA222130467821304678single base substitutionGT3_prime_UTR_variant
PACA-CA222130467821304678single base substitutionGTintron_variant
PACA-CA222131152121311521single base substitutionTGdownstream_gene_variant
PBCA-DE222127051721270517single base substitutionGTupstream_gene_variant
PBCA-DE222127525621275256single base substitutionTAintron_variant
PBCA-DE222128523021285231deletion of <=200bpAA-intron_variant
PBCA-DE222131229521312295single base substitutionCTdownstream_gene_variant
PBCA-DE222131242921312429single base substitutionGAdownstream_gene_variant
PRAD-UK222130011221300112single base substitutionTAintron_variant
PRAD-UK222130272921302729single base substitutionCTintron_variant
PRAD-UK222130420121304201single base substitutionCG3_prime_UTR_variant
PRAD-UK222130765121307651single base substitutionCG3_prime_UTR_variant
READ-US222128845721288457single base substitutionGAexon_variant
READ-US222128845721288457single base substitutionGAsynonymous_variantQ234Q702G>A
READ-US222130405321304053single base substitutionGAexon_variant
READ-US222130405321304053single base substitutionGAmissense_variantE278K832G>A
RECA-EU222128661721286617single base substitutionCTintron_variant
RECA-EU222129043721290437single base substitutionGAintron_variant
RECA-EU222130294421302944single base substitutionAGintron_variant
RECA-EU222130864921308649single base substitutionAGdownstream_gene_variant
SKCA-BR222126759121267591single base substitutionTGupstream_gene_variant
SKCA-BR222126864421268644single base substitutionCTupstream_gene_variant
SKCA-BR222126969321269694deletion of <=200bpTA-upstream_gene_variant
SKCA-BR222127096421270967deletion of <=200bpAAAG-upstream_gene_variant
SKCA-BR222127165321271653single base substitutionGAupstream_gene_variant
SKCA-BR222127165721271657single base substitutionGAupstream_gene_variant
SKCA-BR222127273021272730single base substitutionTCintron_variant
SKCA-BR222127273321272734deletion of <=200bpCT-intron_variant
SKCA-BR222127302521273025single base substitutionTGintron_variant
SKCA-BR222127478621274786insertion of <=200bp-CAintron_variant
SKCA-BR222128180121281801insertion of <=200bp-CGTTintron_variant
SKCA-BR222128180221281802single base substitutionTGintron_variant
SKCA-BR222128596621285966single base substitutionCTintron_variant
SKCA-BR222128619121286191single base substitutionCTintron_variant
SKCA-BR222128634221286342single base substitutionGAintron_variant
SKCA-BR222128840521288405single base substitutionCGexon_variant
SKCA-BR222128840521288405single base substitutionCGmissense_variantP217R650C>G
SKCA-BR222128909321289094deletion of <=200bpAT-intron_variant
SKCA-BR222128981021289810insertion of <=200bp-CTintron_variant
SKCA-BR222129061221290612single base substitutionCTintron_variant
SKCA-BR222129369521293696deletion of <=200bpAT-intron_variant
SKCA-BR222129842721298427insertion of <=200bp-CTTintron_variant
SKCA-BR222129976721299767single base substitutionATintron_variant
SKCA-BR222129999521299995single base substitutionCTintron_variant
SKCA-BR222130210921302109single base substitutionGTintron_variant
SKCA-BR222130495021304950single base substitutionCT3_prime_UTR_variant
SKCA-BR222130495021304950single base substitutionCTintron_variant
SKCA-BR222130771221307715deletion of <=200bpAAAC-3_prime_UTR_variant
SKCA-BR222130774421307744single base substitutionAG3_prime_UTR_variant
SKCA-BR222130977121309771single base substitutionTGdownstream_gene_variant
SKCA-BR222131215321312153single base substitutionGAdownstream_gene_variant
SKCM-US222128822221288222single base substitutionCTexon_variant
SKCM-US222128822221288222single base substitutionCTmissense_variantP156L467C>T
SKCM-US222128833921288339single base substitutionCTexon_variant
SKCM-US222128833921288339single base substitutionCTmissense_variantS195F584C>T
SKCM-US222130407521304075deletion of <=200bpT-exon_variant
SKCM-US222130407521304075deletion of <=200bpT-frameshift_variantL285
STAD-US222127247521272475single base substitutionCTexon_variant
STAD-US222127247521272475single base substitutionCTsynonymous_variantL85L253C>T
STAD-US222128807921288079single base substitutionATexon_variant
STAD-US222128807921288079single base substitutionATsynonymous_variantP108P324A>T
STAD-US222128816721288167single base substitutionGTexon_variant
STAD-US222128816721288167single base substitutionGTmissense_variantD138Y412G>T
UCEC-US222127230721272307single base substitutionCTexon_variant
UCEC-US222127230721272307single base substitutionCTstop_gainedQ29*85C>T
UCEC-US222128812821288128single base substitutionCAexon_variant
UCEC-US222128812821288128single base substitutionCAmissense_variantL125M373C>A
UCEC-US222128822221288222single base substitutionCAexon_variant
UCEC-US222128822221288222single base substitutionCAmissense_variantP156H467C>A
UCEC-US222128842621288426single base substitutionGTexon_variant
UCEC-US222128842621288426single base substitutionGTmissense_variantG224V671G>T
UCEC-US222130405321304053single base substitutionGAexon_variant
UCEC-US222130405321304053single base substitutionGAmissense_variantE278K832G>A
UCEC-US222130408721304087single base substitutionCTexon_variant
UCEC-US222130408721304087single base substitutionCTmissense_variantT289M866C>T
UCEC-US222130408821304088single base substitutionGAexon_variant
UCEC-US222130408821304088single base substitutionGAsynonymous_variantT289T867G>A
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
ESCC_124COSM5641012c.124T>Ap.S42TSubstitution - Missense22:20918058-20918058+
S12-11594-TPCOSM4991464c.109C>Tp.L37FSubstitution - Missense22:20918043-20918043+
TCGA-G7-6790-01COSM3992039c.37G>Cp.A13PSubstitution - Missense22:20917971-20917971+
TCGA-DK-A2I4-01COSM3800050c.81G>Ap.R27RSubstitution - coding silent22:20918015-20918015+
TCGA-B5-A0JZ-01COSM1032394c.467C>Ap.P156HSubstitution - Missense22:20933934-20933934+
TCGA-ER-A198-06COSM3552347c.467C>Tp.P156LSubstitution - Missense22:20933934-20933934+
29TCOSM3713655c.249C>Ap.A83ASubstitution - coding silent22:20918183-20918183+
DM10COSM5608150c.490C>Ap.R164RSubstitution - coding silent22:20933957-20933957+
7TCOSM3713623c.732G>Cp.Q244HSubstitution - Missense22:20934199-20934199+
TCGA-BS-A0UV-01COSM1032396c.832G>Ap.E278KSubstitution - Missense22:20949765-20949765+
TCGA-C8-A130-01COSM444739c.74A>Gp.Q25RSubstitution - Missense22:20918008-20918008+
TCGA-BG-A0M0-01COSM1032392c.85C>Tp.Q29*Substitution - Nonsense22:20918019-20918019+
TCGA-63-5131-01COSM725526c.631C>Gp.Q211ESubstitution - Missense22:20934098-20934098+
CSCC-56-TCOSM4550039c.48G>Ap.M16ISubstitution - Missense22:20917982-20917982+
S07-39193-TPCOSM4991463c.27G>Ap.S9SSubstitution - coding silent22:20917961-20917961+
TCGA-CD-A4MG-01COSM4102807c.253C>Tp.L85LSubstitution - coding silent22:20918187-20918187+
DM12COSM5611250c.200_201CC>TTp.P67LSubstitution - Missense22:20918134-20918135+
LUAD-B01811COSM334358c.731A>Tp.Q244LSubstitution - Missense22:20934198-20934198+
TCGA-32-2638-01COSM3405524c.305C>Tp.A102VSubstitution - Missense22:20918239-20918239+
DM10COSM5608148c.406G>Tp.G136WSubstitution - Missense22:20933873-20933873+
B70-TumorCOSM1751749c.341C>Tp.S114LSubstitution - Missense22:20933808-20933808+
37COSM725526c.631C>Gp.Q211ESubstitution - Missense22:20934098-20934098+
YUDIVICOSM5393191c.408G>Ap.G136GSubstitution - coding silent22:20933875-20933875+
CHC303TCOSM5347434c.182_194del13p.Y61fs*86Deletion - Frameshift22:20918116-20918128+
B70COSM1751749c.341C>Tp.S114LSubstitution - Missense22:20933808-20933808+
NCI-H23COSM1196270c.353T>Gp.L118RSubstitution - Missense22:20933820-20933820+
OSCC-GB_00290111COSM3713655c.249C>Ap.A83ASubstitution - coding silent22:20918183-20918183+
TCGA-BR-8680-01COSM4102809c.412G>Tp.D138YSubstitution - Missense22:20933879-20933879+
T207COSM4674734c.382G>Ap.V128ISubstitution - Missense22:20933849-20933849+
TCGA-EI-6917-01COSM3424053c.702G>Ap.Q234QSubstitution - coding silent22:20934169-20934169+
ESCC_BICR_033TCOSM5439739c.191A>Tp.N64ISubstitution - Missense22:20918125-20918125+
ESO-0292COSM1241041c.347C>Gp.P116RSubstitution - Missense22:20933814-20933814+
TCGA-AA-A00N-01COSM274663c.434A>Cp.K145TSubstitution - Missense22:20933901-20933901+
LUAD-NYU802COSM376394c.822G>Cp.Q274HSubstitution - Missense22:20949755-20949755+
MDS-08COSM210955c.440G>Tp.G147VSubstitution - Missense22:20933907-20933907+
TCGA-AX-A0J1-01COSM1032398c.867G>Ap.T289TSubstitution - coding silent22:20949800-20949800+
B101-TumorCOSM1751748c.26C>Tp.S9LSubstitution - Missense22:20917960-20917960+
TCGA-EB-A431-01COSM3552348c.584C>Tp.S195FSubstitution - Missense22:20934051-20934051+
LUAD-S01345COSM397149c.530A>Gp.Y177CSubstitution - Missense22:20933997-20933997+
Pat_41_BCOSM5858976c.375delGp.E126fs*25Deletion - Frameshift22:20933842-20933842+
TCGA-A5-A0VQ-01COSM1032395c.671G>Tp.G224VSubstitution - Missense22:20934138-20934138+
LUAD-S01356COSM398145c.454A>Tp.I152LSubstitution - Missense22:20933921-20933921+
TCGA-85-6561-01COSM725527c.448C>Tp.L150LSubstitution - coding silent22:20933915-20933915+
PCSI_0174_Pa_P_526COSM4962933c.654A>Cp.A218ASubstitution - coding silent22:20934121-20934121+
LUAD-RT-S01866COSM385166c.502G>Tp.G168CSubstitution - Missense22:20933969-20933969+
TCGA-G4-6628-01COSM1415031c.136G>Tp.G46WSubstitution - Missense22:20918070-20918070+
1N62-VS-1T62COSM4977897c.114C>Tp.V38VSubstitution - coding silent22:20918048-20918048+
TCGA-AA-3492-01COSM1415033c.614A>Gp.H205RSubstitution - Missense22:20934081-20934081+
B101COSM1751748c.26C>Tp.S9LSubstitution - Missense22:20917960-20917960+
587220COSM1202296c.437A>Gp.K146RSubstitution - Missense22:20933904-20933904+
TCGA-BR-6452-01COSM4102808c.324A>Tp.P108PSubstitution - coding silent22:20933791-20933791+
TCGA-F5-6814-01COSM1032396c.832G>Ap.E278KSubstitution - Missense22:20949765-20949765+
CHLA-258COSM4582224c.37G>Ap.A13TSubstitution - Missense22:20917971-20917971+
TCGA-46-3769-01COSM725525c.771A>Cp.A257ASubstitution - coding silent22:20934238-20934238+
OSCC-GB_00070111COSM3713623c.732G>Cp.Q244HSubstitution - Missense22:20934199-20934199+
2318491COSM4776596c.335C>Gp.S112CSubstitution - Missense22:20933802-20933802+
H23COSM1196270c.353T>Gp.L118RSubstitution - Missense22:20933820-20933820+
TCGA-AP-A051-01COSM1032397c.866C>Tp.T289MSubstitution - Missense22:20949799-20949799+
RK211_C01COSM3740360c.465G>Ap.K155KSubstitution - coding silent22:20933932-20933932+
PD13764aCOSM5794264c.417C>Gp.A139ASubstitution - coding silent22:20933884-20933884+
TCGA-AP-A059-01COSM1032393c.373C>Ap.L125MSubstitution - Missense22:20933840-20933840+
1N62-VS-1T62COSM4977898c.270C>Tp.I90ISubstitution - coding silent22:20918204-20918204+
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.561322q11.216020072421361|CGAP|BC043500|G/T|non-coding||4849|Candidate;
2421364|CGAP|BC043500|C/T|non-coding||4286|Validated;
2391049|dbSNP|BC043500|A/G|non-coding||1636|Validated;
2391049|dbSNP|BC043500|C/T|non-coding||1691|Validated
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
ACSynonymousp.A257Ac.771A>C2221288526LUSC
AGIntronicSNV.c.778-3024A>G2221300975HC
AGMissensep.Q25Rc.74A>G2221272296BRCA
CAMissensep.P156Hc.467C>A2221288222UCEC
CAMissensep.R11Sc.31C>A2221272253CM
CASynonymousp.L37Lc.111C>A2221272333LUAD
CGMissensep.L131Vc.391C>G2221288146LUAD
CGMissensep.Q211Ec.631C>G2221288386LUSC
CTMissensep.A102Vc.305C>T2221272527GBM
CTMissensep.P156Lc.467C>T2221288222CM
CTNonsensep.Q29*c.85C>T2221272307UCEC
CTSynonymousp.L150Lc.448C>T2221288203LUSC
GAMissensep.E278Kc.832G>A2221304053HNSC
GASynonymousp.R27Rc.81G>A2221272303BLCA
GC3-UTRSNV.c.909+3286G>C2221307416HC
GTMissensep.G224Vc.671G>T2221288426UCEC
T-Frameshiftp.F286Sfs*46c.857delT2221304075CM