BTBD18
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-US115750669957506699single base substitutionGCdownstream_gene_variant
BRCA-EU115750614057506140single base substitutionATdownstream_gene_variant
BRCA-EU115750881557508815single base substitutionGTdownstream_gene_variant
BRCA-EU115750899857508998single base substitutionCTdownstream_gene_variant
BRCA-EU115750902257509022single base substitutionCAdownstream_gene_variant
BRCA-EU115750957757509577single base substitutionCTdownstream_gene_variant
BRCA-EU115750989757509897deletion of <=200bpA-downstream_gene_variant
BRCA-EU115751020557510205single base substitutionGCdownstream_gene_variant
BRCA-EU115751035957510359single base substitutionATdownstream_gene_variant
BRCA-EU115751196557511965single base substitutionCTdownstream_gene_variant
BRCA-EU115751196557511965single base substitutionCTmissense_variantD594N1780G>A
BRCA-EU115751344357513443single base substitutionGCdownstream_gene_variant
BRCA-EU115751344357513443single base substitutionGCmissense_variantS101C302C>G
BRCA-EU115751507357515073single base substitutionGAintron_variant
BRCA-EU115751580357515840deletion of <=200bpAACTCTGTAAAGTAGCTACTGTTATTATAAATGAGTAA-intron_variant
BRCA-EU115751606557516065single base substitutionGCintron_variant
BRCA-EU115751624257516242single base substitutionCGintron_variant
BRCA-EU115751626757516267single base substitutionCTintron_variant
BRCA-EU115751655757516557single base substitutionCTintron_variant
BRCA-EU115751803757518037single base substitutionGTintron_variant
BRCA-EU115751992557519925single base substitutionGAupstream_gene_variant
BRCA-EU115752028457520284single base substitutionGAupstream_gene_variant
BRCA-EU115752055357520553single base substitutionGAupstream_gene_variant
BRCA-EU115752059057520590single base substitutionCTupstream_gene_variant
BRCA-EU115752091257520912single base substitutionCTupstream_gene_variant
BRCA-EU115752119757521197single base substitutionGAupstream_gene_variant
BRCA-EU115752158957521589single base substitutionCTupstream_gene_variant
BRCA-EU115752176957521769single base substitutionCGupstream_gene_variant
BRCA-EU115752411757524117single base substitutionTGupstream_gene_variant
BRCA-FR115750757757507577single base substitutionGAdownstream_gene_variant
BRCA-UK115751328157513281single base substitutionCTdownstream_gene_variant
BRCA-UK115751328157513281single base substitutionCTmissense_variantR155K464G>A
BRCA-US115750907657509076single base substitutionCTdownstream_gene_variant
BRCA-US115750915257509152single base substitutionGCdownstream_gene_variant
BRCA-US115750932357509323single base substitutionCTdownstream_gene_variant
BRCA-US115751169957511699single base substitutionCGdownstream_gene_variant
BRCA-US115751169957511699single base substitutionCGmissense_variantW682C2046G>C
BRCA-US115751854657518546single base substitutionGAstop_gainedQ39*115C>T
BTCA-JP115750642357506423single base substitutionATdownstream_gene_variant
BTCA-JP115750659357506593single base substitutionGAdownstream_gene_variant
BTCA-JP115750949957509499single base substitutionTCdownstream_gene_variant
CESC-US115751171757511717single base substitutionCAdownstream_gene_variant
CESC-US115751171757511717single base substitutionCAmissense_variantE676D2028G>T
CESC-US115751226857512268single base substitutionCTdownstream_gene_variant
CESC-US115751226857512268single base substitutionCTmissense_variantE493K1477G>A
CESC-US115751254757512547single base substitutionGAdownstream_gene_variant
CESC-US115751254757512547single base substitutionGAstop_gainedQ400*1198C>T
CESC-US115751861057518610single base substitutionGAsynonymous_variantL17L51C>T
CLLE-ES115751103657511036single base substitutionTC3_prime_UTR_variant
CLLE-ES115751103657511036single base substitutionTCdownstream_gene_variant
COAD-US115750758457507584single base substitutionGAdownstream_gene_variant
COAD-US115751259757512597single base substitutionCAdownstream_gene_variant
COAD-US115751259757512597single base substitutionCAmissense_variantS383I1148G>T
COAD-US115751261857512618single base substitutionGTdownstream_gene_variant
COAD-US115751261857512618single base substitutionGTmissense_variantP376H1127C>A
COAD-US115751283357512833single base substitutionAGdownstream_gene_variant
COAD-US115751283357512833single base substitutionAGsynonymous_variantN304N912T>C
COCA-CN115751078157510781single base substitutionCTdownstream_gene_variant
COCA-CN115752158157521581single base substitutionTGupstream_gene_variant
ESAD-UK115750603557506035single base substitutionGAdownstream_gene_variant
ESAD-UK115750779957507799single base substitutionTCdownstream_gene_variant
ESAD-UK115750793157507931single base substitutionGTdownstream_gene_variant
ESAD-UK115750860057508600single base substitutionTCdownstream_gene_variant
ESAD-UK115751203057512030single base substitutionACdownstream_gene_variant
ESAD-UK115751203057512030single base substitutionACmissense_variantL572R1715T>G
ESAD-UK115751293657512936single base substitutionGTdownstream_gene_variant
ESAD-UK115751293657512936single base substitutionGTmissense_variantP270Q809C>A
ESAD-UK115751321057513210single base substitutionTCdownstream_gene_variant
ESAD-UK115751321057513210single base substitutionTCmissense_variantI179V535A>G
ESAD-UK115751461557514615single base substitutionCGintron_variant
ESAD-UK115751798057517980single base substitutionCAintron_variant
ESAD-UK115751884357518843single base substitutionGA5_prime_UTR_variant
ESAD-UK115751884357518843single base substitutionGAintron_variant
ESAD-UK115752075357520753single base substitutionGAupstream_gene_variant
ESAD-UK115752122857521228single base substitutionATupstream_gene_variant
ESCA-CN115750671657506716single base substitutionCGdownstream_gene_variant
GACA-CN115751181857511818single base substitutionTAdownstream_gene_variant
GACA-CN115751181857511818single base substitutionTAmissense_variantT643S1927A>T
GACA-CN115751181957511819single base substitutionCGdownstream_gene_variant
GACA-CN115751181957511819single base substitutionCGmissense_variantL642F1926G>C
KIRC-US115751858357518583single base substitutionGCmissense_variantH26Q78C>G
LICA-CN115750765757507657single base substitutionGAdownstream_gene_variant
LICA-CN115751324557513245single base substitutionATdownstream_gene_variant
LICA-CN115751324557513245single base substitutionATmissense_variantL167Q500T>A
LICA-FR115751195257511952single base substitutionGAdownstream_gene_variant
LICA-FR115751195257511952single base substitutionGAmissense_variantT598I1793C>T
LICA-FR115751290757512907single base substitutionATdownstream_gene_variant
LICA-FR115751290757512907single base substitutionATmissense_variantS280T838T>A
LICA-FR115751353757513537single base substitutionGAstop_gainedQ70*208C>T
LIHC-US115751243857512438single base substitutionGTdownstream_gene_variant
LIHC-US115751243857512438single base substitutionGTmissense_variantS436Y1307C>A
LIHC-US115751260657512606single base substitutionGTdownstream_gene_variant
LIHC-US115751260657512606single base substitutionGTmissense_variantT380N1139C>A
LIHC-US115751336257513362single base substitutionCTdownstream_gene_variant
LIHC-US115751336257513362single base substitutionCTmissense_variantG128E383G>A
LINC-JP115750897957508979single base substitutionGAdownstream_gene_variant
LINC-JP115750901157509011single base substitutionGTdownstream_gene_variant
LINC-JP115751757857517578single base substitutionCGintron_variant
LINC-JP115752152857521528single base substitutionACupstream_gene_variant
LIRI-JP115750779557507798deletion of <=200bpTTTA-downstream_gene_variant
LIRI-JP115751009157510091single base substitutionATdownstream_gene_variant
LIRI-JP115751102957511029single base substitutionGT3_prime_UTR_variant
LIRI-JP115751102957511029single base substitutionGTdownstream_gene_variant
LIRI-JP115751284357512843single base substitutionCTdownstream_gene_variant
LIRI-JP115751284357512843single base substitutionCTmissense_variantR301K902G>A
LIRI-JP115751438157514381single base substitutionAGintron_variant
LIRI-JP115751443957514439single base substitutionTCintron_variant
LIRI-JP115751466857514668single base substitutionCTintron_variant
LIRI-JP115752131157521311single base substitutionGAupstream_gene_variant
LIRI-JP115752293957522939single base substitutionAGupstream_gene_variant
LIRI-JP115752335757523357insertion of <=200bp-Aupstream_gene_variant
LUSC-KR115751292057512920single base substitutionAGdownstream_gene_variant
LUSC-KR115751292057512920single base substitutionAGsynonymous_variantC275C825T>C
LUSC-KR115751647057516470single base substitutionGTintron_variant
LUSC-KR115752129857521298single base substitutionGTupstream_gene_variant
LUSC-KR115752357857523578single base substitutionAGupstream_gene_variant
LUSC-US115750618357506183single base substitutionTCdownstream_gene_variant
MALY-DE115751355257513552single base substitutionGAmissense_variantR65W193C>T
MALY-DE115752102257521022single base substitutionCTupstream_gene_variant
MALY-DE115752298857522988single base substitutionTAupstream_gene_variant
MELA-AU115750609957506099single base substitutionGAdownstream_gene_variant
MELA-AU115750619157506191single base substitutionGAdownstream_gene_variant
MELA-AU115750641757506417single base substitutionCTdownstream_gene_variant
MELA-AU115750724057507240single base substitutionGAdownstream_gene_variant
MELA-AU115750734857507348single base substitutionTCdownstream_gene_variant
MELA-AU115750789857507898single base substitutionGAdownstream_gene_variant
MELA-AU115750799957507999single base substitutionTCdownstream_gene_variant
MELA-AU115750816057508160single base substitutionCTdownstream_gene_variant
MELA-AU115750876857508768single base substitutionCTdownstream_gene_variant
MELA-AU115750880057508800single base substitutionCTdownstream_gene_variant
MELA-AU115750883157508831single base substitutionCTdownstream_gene_variant
MELA-AU115750927657509276single base substitutionCTdownstream_gene_variant
MELA-AU115750963657509636single base substitutionAGdownstream_gene_variant
MELA-AU115750995757509957single base substitutionGAdownstream_gene_variant
MELA-AU115751159857511598single base substitutionCT3_prime_UTR_variant
MELA-AU115751159857511598single base substitutionCTdownstream_gene_variant
MELA-AU115751206857512068single base substitutionCTdownstream_gene_variant
MELA-AU115751206857512068single base substitutionCTsynonymous_variantK559K1677G>A
MELA-AU115751212857512128single base substitutionCTdownstream_gene_variant
MELA-AU115751212857512128single base substitutionCTsynonymous_variantG539G1617G>A
MELA-AU115751273757512737single base substitutionCTdownstream_gene_variant
MELA-AU115751273757512737single base substitutionCTsynonymous_variantR336R1008G>A
MELA-AU115751309557513095single base substitutionGAdownstream_gene_variant
MELA-AU115751309557513095single base substitutionGAmissense_variantP217L650C>T
MELA-AU115751320657513206single base substitutionCTdownstream_gene_variant
MELA-AU115751320657513206single base substitutionCTmissense_variantR180K539G>A
MELA-AU115751414257514142single base substitutionCTintron_variant
MELA-AU115751439257514392single base substitutionCTintron_variant
MELA-AU115751453857514538single base substitutionTGintron_variant
MELA-AU115751456157514561deletion of <=200bpT-intron_variant
MELA-AU115751457757514577single base substitutionGAintron_variant
MELA-AU115751472557514725single base substitutionCTintron_variant
MELA-AU115751499857514998single base substitutionGTintron_variant
MELA-AU115751517057515170single base substitutionCTintron_variant
MELA-AU115751536357515363single base substitutionCTintron_variant
MELA-AU115751649557516495single base substitutionCTintron_variant
MELA-AU115751761857517618single base substitutionGAintron_variant
MELA-AU115751764557517645single base substitutionCTintron_variant
MELA-AU115751770457517704single base substitutionCTintron_variant
MELA-AU115751772357517723single base substitutionCTintron_variant
MELA-AU115751828557518285single base substitutionCTintron_variant
MELA-AU115751870857518708single base substitutionCT5_prime_UTR_variant
MELA-AU115751870857518708single base substitutionCTsplice_region_variant
MELA-AU115751898257518982single base substitutionCTintron_variant
MELA-AU115751898257518982single base substitutionCTupstream_gene_variant
MELA-AU115751928757519287single base substitutionGAupstream_gene_variant
MELA-AU115751979957519799single base substitutionGAupstream_gene_variant
MELA-AU115752001557520015single base substitutionCTupstream_gene_variant
MELA-AU115752002057520020single base substitutionCTupstream_gene_variant
MELA-AU115752017257520172single base substitutionCTupstream_gene_variant
MELA-AU115752050957520509single base substitutionCTupstream_gene_variant
MELA-AU115752084857520848single base substitutionCTupstream_gene_variant
MELA-AU115752117957521179insertion of <=200bp-Tupstream_gene_variant
MELA-AU115752120257521202single base substitutionCTupstream_gene_variant
MELA-AU115752121557521215single base substitutionGAupstream_gene_variant
MELA-AU115752136057521360single base substitutionCGupstream_gene_variant
MELA-AU115752137857521378single base substitutionGCupstream_gene_variant
MELA-AU115752239857522398single base substitutionCTupstream_gene_variant
MELA-AU115752260857522608single base substitutionCTupstream_gene_variant
MELA-AU115752278657522786single base substitutionCTupstream_gene_variant
MELA-AU115752300657523006single base substitutionCGupstream_gene_variant
MELA-AU115752342257523422single base substitutionCTupstream_gene_variant
MELA-AU115752364757523647single base substitutionCTupstream_gene_variant
MELA-AU115752365457523654single base substitutionGAupstream_gene_variant
MELA-AU115752424457524244single base substitutionTGupstream_gene_variant
ORCA-IN115752170257521702single base substitutionAGupstream_gene_variant
OV-AU115750705557507055single base substitutionCTdownstream_gene_variant
OV-AU115751057057510570single base substitutionGAdownstream_gene_variant
OV-AU115751063257510632single base substitutionTAdownstream_gene_variant
OV-AU115751206357512063single base substitutionGTdownstream_gene_variant
OV-AU115751206357512063single base substitutionGTmissense_variantP561H1682C>A
OV-AU115751912757519127single base substitutionCT5_prime_UTR_variant
OV-AU115751912757519127single base substitutionCTupstream_gene_variant
OV-AU115751986257519862single base substitutionCTupstream_gene_variant
OV-AU115752282657522826single base substitutionCTupstream_gene_variant
PACA-AU115750802557508025single base substitutionTGdownstream_gene_variant
PACA-AU115751259657512596single base substitutionGAdownstream_gene_variant
PACA-AU115751259657512596single base substitutionGAsynonymous_variantS383S1149C>T
PACA-AU115751401157514011single base substitutionACintron_variant
PACA-AU115751669257516692single base substitutionGAintron_variant
PACA-AU115752065357520653single base substitutionCTupstream_gene_variant
PACA-AU115752229557522295single base substitutionCAupstream_gene_variant
PACA-CA115750668157506681single base substitutionGAdownstream_gene_variant
PACA-CA115750830057508300single base substitutionGCdownstream_gene_variant
PACA-CA115750885557508855single base substitutionCTdownstream_gene_variant
PACA-CA115751576357515763single base substitutionTCintron_variant
PACA-CA115751757357517573single base substitutionGAintron_variant
PACA-CA115751786557517865insertion of <=200bp-Aintron_variant
PACA-CA115751803757518037single base substitutionGAintron_variant
PACA-CA115752156757521567single base substitutionCTupstream_gene_variant
PBCA-DE115750983357509833single base substitutionCGdownstream_gene_variant
PRAD-UK115751303657513036single base substitutionCAdownstream_gene_variant
PRAD-UK115751303657513036single base substitutionCAmissense_variantD237Y709G>T
PRAD-UK115752246357522463single base substitutionCAupstream_gene_variant
PRAD-US115750622057506220single base substitutionAGdownstream_gene_variant
READ-US115751234257512342single base substitutionGAdownstream_gene_variant
READ-US115751234257512342single base substitutionGAmissense_variantA468V1403C>T
RECA-EU115751367757513677single base substitutionACintron_variant
RECA-EU115751915557519155single base substitutionGC5_prime_UTR_variant
RECA-EU115751915557519155single base substitutionGCupstream_gene_variant
SKCA-BR115750728857507288single base substitutionCTdownstream_gene_variant
SKCA-BR115750742757507427single base substitutionCTdownstream_gene_variant
SKCA-BR115751074957510749single base substitutionTGdownstream_gene_variant
SKCA-BR115751810557518105single base substitutionGAintron_variant
SKCA-BR115752211657522116single base substitutionCTupstream_gene_variant
SKCA-BR115752235257522356deletion of <=200bpCCTTT-upstream_gene_variant
SKCA-BR115752388257523882insertion of <=200bp-CCACAupstream_gene_variant
SKCM-US115750665257506652single base substitutionCTdownstream_gene_variant
SKCM-US115750964157509641single base substitutionCTdownstream_gene_variant
STAD-US115750664757506647single base substitutionTCdownstream_gene_variant
UCEC-US115750617757506177single base substitutionGTdownstream_gene_variant
UCEC-US115750646557506465single base substitutionACdownstream_gene_variant
UCEC-US115750762157507621single base substitutionGTdownstream_gene_variant
UCEC-US115751183657511836single base substitutionCTdownstream_gene_variant
UCEC-US115751183657511836single base substitutionCTmissense_variantG637R1909G>A
UCEC-US115751199057511990single base substitutionAGdownstream_gene_variant
UCEC-US115751199057511990single base substitutionAGsynonymous_variantL585L1755T>C
UCEC-US115751273357512733single base substitutionGAdownstream_gene_variant
UCEC-US115751273357512733single base substitutionGAmissense_variantR338W1012C>T
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
TCGA-CA-6717-01COSM1354816c.1127C>Ap.P376HSubstitution - Missense11:57745146-57745146-
HT55COSM4638682c.1013G>Ap.R338QSubstitution - Missense11:57745260-57745260-
CSCC-42-TCOSM4538920c.261G>Ap.R87RSubstitution - coding silent11:57746012-57746012-
422_TCOSM3953430c.1809G>Ap.L603LSubstitution - coding silent11:57744464-57744464-
HCT8COSM4622175c.367C>Ap.L123ISubstitution - Missense11:57745906-57745906-
61COSM5349707c.338G>Ap.R113HSubstitution - Missense11:57745935-57745935-
1517_PTCOSM5753727c.1652C>Ap.P551HSubstitution - Missense11:57744621-57744621-
PTC-14CCOSM4145914c.474A>Cp.T158TSubstitution - coding silent11:57745799-57745799-
XHDG38COSM4769834c.81G>Cp.Q27HSubstitution - Missense11:57751108-57751108-
DLD1COSM4622175c.367C>Ap.L123ISubstitution - Missense11:57745906-57745906-
tumor_4158726COSM3356208c.193C>Tp.R65WSubstitution - Missense11:57746080-57746080-
pfg008TCOSM4755976c.1565G>Ap.C522YSubstitution - Missense11:57744708-57744708-
0076_CRUK_PC_0076_T1_DNACOSM5422712c.709G>Tp.D237YSubstitution - Missense11:57745564-57745564-
CSCC-44-TCOSM4519657c.1021G>Ap.E341KSubstitution - Missense11:57745252-57745252-
587342COSM1185035c.1434T>Ap.C478*Substitution - Nonsense11:57744839-57744839-
951_TCOSM3953434c.496C>Tp.P166SSubstitution - Missense11:57745777-57745777-
TCGA-Q1-A73O-01COSM4835203c.1198C>Tp.Q400*Substitution - Nonsense11:57745075-57745075-
TCGA-EI-6917-01COSM3416001c.1403C>Tp.A468VSubstitution - Missense11:57744870-57744870-
S02382COSM5697737c.1685C>Tp.A562VSubstitution - Missense11:57744588-57744588-
TCGA-B0-4844-01COSM3359243c.78C>Gp.H26QSubstitution - Missense11:57751111-57751111-
53MCOSM4531157c.1763G>Ap.G588ESubstitution - Missense11:57744510-57744510-
Au3COSM5601110c.574G>Ap.E192KSubstitution - Missense11:57745699-57745699-
262TCOSM1727084c.1517A>Cp.D506ASubstitution - Missense11:57744756-57744756-
HCT116COSM4631998c.337C>Ap.R113SSubstitution - Missense11:57745936-57745936-
AOCS-165-1-XCOSM3980437c.1682C>Ap.P561HSubstitution - Missense11:57744591-57744591-
QC2-25-T2COSM5653317c.295G>Ap.E99KSubstitution - Missense11:57745978-57745978-
CHC1591TCOSM4800433c.208C>Tp.Q70*Substitution - Nonsense11:57746065-57746065-
S01022COSM5665655c.830C>Ap.S277*Substitution - Nonsense11:57745443-57745443-
CHC892TCOSM4796954c.1793C>Tp.T598ISubstitution - Missense11:57744480-57744480-
CHC892TCOSM4796954c.1793C>Tp.T598ISubstitution - Missense11:57744480-57744480-
TCGA-G3-A6UC-01COSM4929776c.383G>Ap.G128ESubstitution - Missense11:57745890-57745890-
A5COSM5349707c.338G>Ap.R113HSubstitution - Missense11:57745935-57745935-
CSCC-41-TCOSM4532023c.1849G>Ap.D617NSubstitution - Missense11:57744424-57744424-
CHC1591TCOSM4800433c.208C>Tp.Q70*Substitution - Nonsense11:57746065-57746065-
CSCC-56-TCOSM4568299c.1074T>Ap.V358VSubstitution - coding silent11:57745199-57745199-
PACA46COSM1158127c.1149C>Tp.S383SSubstitution - coding silent11:57745124-57745124-
HT115COSM4638122c.1905G>Ap.E635ESubstitution - coding silent11:57744368-57744368-
TCGA-EK-A2PM-01COSM4831376c.1477G>Ap.E493KSubstitution - Missense11:57744796-57744796-
HCC2998COSM4631501c.800G>Ap.R267HSubstitution - Missense11:57745473-57745473-
PD8610aCOSM5796877c.302C>Gp.S101CSubstitution - Missense11:57745971-57745971-
1N62-VS-1T62COSM4977847c.721G>Tp.D241YSubstitution - Missense11:57745552-57745552-
TCGA-BS-A0TJ-01COSM1152362c.584G>Ap.R195QSubstitution - Missense11:57745689-57745689-
TCGA-D1-A16O-01COSM1152358c.2065G>Tp.V689LSubstitution - Missense11:57744208-57744208-
S00356COSM5657453c.717C>Ap.A239ASubstitution - coding silent11:57745556-57745556-
PDA_097COSM5003323c.677G>Tp.S226ISubstitution - Missense11:57745596-57745596-
RK308_C01COSM3739142c.902G>Ap.R301KSubstitution - Missense11:57745371-57745371-
8044826COSM1158127c.1149C>Tp.S383SSubstitution - coding silent11:57745124-57745124-
TCGA-Q1-A73O-01COSM4835850c.51C>Tp.L17LSubstitution - coding silent11:57751138-57751138-
2296_TCOSM3953432c.621C>Gp.L207LSubstitution - coding silent11:57745652-57745652-
WSU-HN6COSM4602241c.458C>Gp.S153CSubstitution - Missense11:57745815-57745815-
TCGA-FU-A3HZ-01COSM4841085c.2028G>Tp.E676DSubstitution - Missense11:57744245-57744245-
TCGA-G3-A25Z-01COSM4922181c.1307C>Ap.S436YSubstitution - Missense11:57744966-57744966-
TCGA-A3-3387-01COSM467005c.1572G>Ap.T524TSubstitution - coding silent11:57744701-57744701-
HCC021TCOSM5815670c.500T>Ap.L167QSubstitution - Missense11:57745773-57745773-
587342COSM1185033c.1871G>Ap.G624ESubstitution - Missense11:57744402-57744402-
UM-SCC-47COSM4600149c.194G>Ap.R65QSubstitution - Missense11:57746079-57746079-
CSCC-27-TCOSM4530405c.1697G>Ap.R566KSubstitution - Missense11:57744576-57744576-
GC_299T1-GC_299NCOSM4772533c.2090G>Ap.W697*Substitution - Nonsense11:57744183-57744183-
TCGA-AP-A0LE-01COSM1152360c.1909G>Ap.G637RSubstitution - Missense11:57744364-57744364-
S02292COSM5687298c.791G>Ap.R264KSubstitution - Missense11:57745482-57745482-
TCGA-D5-6928-01COSM1354818c.912T>Cp.N304NSubstitution - coding silent11:57745361-57745361-
TCGA-CC-A1HT-01COSM4928387c.1139C>Ap.T380NSubstitution - Missense11:57745134-57745134-
TCGA-AX-A0J0-01COSM1585825c.1755T>Cp.L585LSubstitution - coding silent11:57744518-57744518-
pfg008TCOSM4747317c.662delAp.N221fs*63Deletion - Frameshift11:57745611-57745611-
2150COSM5012344c.568C>Tp.P190SSubstitution - Missense11:57745705-57745705-
CSCC-19-TCOSM4518200c.558_559GG>AAp.E187KSubstitution - Missense11:57745714-57745715-
CHC1629TCOSM4791764c.838T>Ap.S280TSubstitution - Missense11:57745435-57745435-
CHC1629TCOSM4791764c.838T>Ap.S280TSubstitution - Missense11:57745435-57745435-
GC7_TCOSM3748531c.1927A>Tp.T643SSubstitution - Missense11:57744346-57744346-
C086COSM5527445c.1969G>Ap.E657KSubstitution - Missense11:57744304-57744304-
GC7_TCOSM3748533c.1926G>Cp.L642FSubstitution - Missense11:57744347-57744347-
TCGA-AC-A23H-01COSM3809598c.2046G>Cp.W682CSubstitution - Missense11:57744227-57744227-
61COSM5739245c.2087T>Cp.V696ASubstitution - Missense11:57744186-57744186-
TCGA-BH-A18G-01COSM3809600c.115C>Tp.Q39*Substitution - Nonsense11:57751074-57751074-
S02209COSM5675092c.337C>Gp.R113GSubstitution - Missense11:57745936-57745936-
CSCC-27-TCOSM4531157c.1763G>Ap.G588ESubstitution - Missense11:57744510-57744510-
SM-4B296COSM5035617c.809C>Ap.P270QSubstitution - Missense11:57745464-57745464-
CSCC-62-TCOSM4532301c.1872G>Ap.G624GSubstitution - coding silent11:57744401-57744401-
HCT15COSM4622175c.367C>Ap.L123ISubstitution - Missense11:57745906-57745906-
TCGA-D1-A103-01COSM1585823c.1012C>Tp.R338WSubstitution - Missense11:57745261-57745261-
YUSIVCOSM5372843c.559G>Ap.E187KSubstitution - Missense11:57745714-57745714-
TCGA-D5-6930-01COSM1354814c.1148G>Tp.S383ISubstitution - Missense11:57745125-57745125-
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.606331;Hs.606332;Hs.606333;Hs.606334;Hs.606335;Hs.606337;Hs.606339;Hs.606341;Hs.606342;Hs.606343;Hs.606345;Hs.606346;Hs.606348;Hs.606350;Hs.606351;Hs.606353;Hs.60635511q12.1
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
CTMissensep.G637Rc.1909G>A1157511836UCEC
GAMissensep.R65Wc.193C>T1157513552DLBCL
GCMissensep.H26Qc.78C>G1157518583RCCC
GT3-UTRSNV.c.2136+580C>A1157511029HC