GABARAPL2
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
BLCA167560196275601962+Nonsense_MutationSNPCCTTCGA-FD-A6TG-01A-11D-A32B-08TCGA-FD-A6TG-10A-01D-A329-08g.chr16:75601962C>Tc.118C>Tc.(118-120)Cag>Tagp.Q40*
COAD167560199675601996+Missense_MutationSNPTTCTCGA-AZ-4315-01A-01D-1408-10TCGA-AZ-4315-10A-01D-1408-10g.chr16:75601996T>Cc.152T>Cc.(151-153)gTt>gCtp.V51A
COAD167561121175611211+Missense_MutationSNPGGTTCGA-CA-6717-01A-11D-1835-10TCGA-CA-6717-10A-01D-1835-10g.chr16:75611211G>Tc.298G>Tc.(298-300)Gat>Tatp.D100Y
COAD167561125075611250+Missense_MutationSNPAAGTCGA-G4-6586-01A-11D-1771-10TCGA-G4-6586-10A-01D-1771-10g.chr16:75611250A>Gc.337A>Gc.(337-339)Aac>Gacp.N113D
COAD167561125075611251+Missense_MutationDNPAAAAGGTCGA-F4-6460-01A-11D-1771-10TCGA-F4-6460-10B-01D-1771-10g.chr16:75611250_75611251AA>GGc.337_338AA>GGc.(337-339)AAc>GGcp.N113G
COAD167561125175611251+Missense_MutationSNPAAGTCGA-AZ-6608-01A-11D-1835-10TCGA-AZ-6608-11A-01D-1835-10g.chr16:75611251A>Gc.338A>Gc.(337-339)aAc>aGcp.N113S
COADREAD167560199675601996+Missense_MutationSNPTTCTCGA-AZ-4315-01A-01D-1408-10TCGA-AZ-4315-10A-01D-1408-10g.chr16:75601996T>Cc.152T>Cc.(151-153)gTt>gCtp.V51A
COADREAD167561121175611211+Missense_MutationSNPGGTTCGA-CA-6717-01A-11D-1835-10TCGA-CA-6717-10A-01D-1835-10g.chr16:75611211G>Tc.298G>Tc.(298-300)Gat>Tatp.D100Y
COADREAD167561125075611250+Missense_MutationSNPAAGTCGA-G4-6586-01A-11D-1771-10TCGA-G4-6586-10A-01D-1771-10g.chr16:75611250A>Gc.337A>Gc.(337-339)Aac>Gacp.N113D
COADREAD167561125075611251+Missense_MutationDNPAAAAGGTCGA-F4-6460-01A-11D-1771-10TCGA-F4-6460-10B-01D-1771-10g.chr16:75611250_75611251AA>GGc.337_338AA>GGc.(337-339)AAc>GGcp.N113G
COADREAD167561125175611251+Missense_MutationSNPAAGTCGA-AZ-6608-01A-11D-1835-10TCGA-AZ-6608-11A-01D-1835-10g.chr16:75611251A>Gc.338A>Gc.(337-339)aAc>aGcp.N113S
HNSC167560196375601963+Missense_MutationSNPAACTCGA-P3-A6T6-01A-11D-A34J-08TCGA-P3-A6T6-10A-01D-A34M-08g.chr16:75601963A>Cc.119A>Cc.(118-120)cAg>cCgp.Q40P
HNSC167560209575602095+Missense_MutationSNPTTCTCGA-F7-A624-01A-22D-A30E-08TCGA-F7-A624-10A-01D-A30H-08g.chr16:75602095T>Cc.251T>Cc.(250-252)gTc>gCcp.V84A
OV167561125075611250+Missense_MutationSNPAAGTCGA-04-1338-01A-01W-0484-10TCGA-04-1338-11A-01W-0485-10g.chr16:75611250A>Gc.337A>Gc.(337-339)Aac>Gacp.N113D
PAAD167560079275600792+Missense_MutationSNPCCTTCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr16:75600792C>Tc.77C>Tc.(76-78)cCc>cTcp.P26L
SKCM167560193475601934+Splice_SiteSNPGGCTCGA-ER-A19P-06A-11D-A196-08TCGA-ER-A19P-10A-01D-A198-08g.chr16:75601934G>Cc.e3-1
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BRCA-EU167559548475595484single base substitutionAGupstream_gene_variant
BRCA-EU167559597075595970single base substitutionTAupstream_gene_variant
BRCA-EU167559785475597854single base substitutionCAupstream_gene_variant
BRCA-EU167559816075598160single base substitutionCTupstream_gene_variant
BRCA-EU167559944675599446single base substitutionTAupstream_gene_variant
BRCA-EU167560018875600188single base substitutionCTupstream_gene_variant
BRCA-EU167560356575603565single base substitutionCTdownstream_gene_variant
BRCA-EU167560356575603565single base substitutionCTintron_variant
BRCA-EU167560448475604484single base substitutionGAdownstream_gene_variant
BRCA-EU167560448475604484single base substitutionGAintron_variant
BRCA-EU167560477775604777single base substitutionGTdownstream_gene_variant
BRCA-EU167560477775604777single base substitutionGTintron_variant
BRCA-EU167560477775604777single base substitutionGTupstream_gene_variant
BRCA-EU167560767575607675single base substitutionCAintron_variant
BRCA-EU167560767575607675single base substitutionCAupstream_gene_variant
BRCA-EU167560804275608042single base substitutionCTintron_variant
BRCA-EU167560804275608042single base substitutionCTupstream_gene_variant
BRCA-EU167560973475609734single base substitutionACexon_variant
BRCA-EU167560973475609734single base substitutionACintron_variant
BRCA-EU167561036075610360single base substitutionAGexon_variant
BRCA-EU167561036075610360single base substitutionAGintron_variant
BRCA-EU167561131675611316single base substitutionAG3_prime_UTR_variant
BRCA-EU167561131675611316single base substitutionAGexon_variant
BRCA-EU167561153075611530single base substitutionGA3_prime_UTR_variant
BRCA-EU167561153075611530single base substitutionGAdownstream_gene_variant
BRCA-EU167561153075611530single base substitutionGAexon_variant
BRCA-EU167561285275612852single base substitutionCAdownstream_gene_variant
BRCA-EU167561326075613260single base substitutionCGdownstream_gene_variant
BRCA-EU167561335975613359single base substitutionCGdownstream_gene_variant
BRCA-EU167561461575614615single base substitutionTCdownstream_gene_variant
BRCA-FR167560804275608042single base substitutionCTintron_variant
BRCA-FR167560804275608042single base substitutionCTupstream_gene_variant
BRCA-FR167561036075610360single base substitutionAGexon_variant
BRCA-FR167561036075610360single base substitutionAGintron_variant
BRCA-FR167561326075613260single base substitutionCGdownstream_gene_variant
CESC-US167561112375611123single base substitutionCGexon_variant
CESC-US167561112375611123single base substitutionCGintron_variant
COAD-US167560199675601996single base substitutionTC5_prime_UTR_variant
COAD-US167560199675601996single base substitutionTCintron_variant
COAD-US167560199675601996single base substitutionTCmissense_variantV51A152T>C
COAD-US167561121175611211single base substitutionGTexon_variant
COAD-US167561121175611211single base substitutionGTmissense_variantD100Y298G>T
COAD-US167561121175611211single base substitutionGTmissense_variantD40Y118G>T
COAD-US167561121175611211single base substitutionGTmissense_variantR42I125G>T
COCA-CN167560074975600749single base substitutionGTsplice_acceptor_variant
COCA-CN167561120475611204single base substitutionGAexon_variant
COCA-CN167561120475611204single base substitutionGAmissense_variantG40R118G>A
COCA-CN167561120475611204single base substitutionGAsynonymous_variantK37K111G>A
COCA-CN167561120475611204single base substitutionGAsynonymous_variantK97K291G>A
ESAD-UK167559720875597208single base substitutionGAupstream_gene_variant
ESAD-UK167559876675598766single base substitutionCAupstream_gene_variant
ESAD-UK167560013875600138single base substitutionCAupstream_gene_variant
ESAD-UK167560372475603724insertion of <=200bp-Tdownstream_gene_variant
ESAD-UK167560372475603724insertion of <=200bp-Tintron_variant
ESAD-UK167560852875608528single base substitutionGAintron_variant
ESAD-UK167560852875608528single base substitutionGAupstream_gene_variant
ESAD-UK167560876175608761insertion of <=200bp-AAACACintron_variant
ESAD-UK167560876175608761insertion of <=200bp-AAACACupstream_gene_variant
ESAD-UK167561139075611390single base substitutionTG3_prime_UTR_variant
ESAD-UK167561139075611390single base substitutionTGexon_variant
ESAD-UK167561251475612514single base substitutionCAdownstream_gene_variant
ESAD-UK167561542875615428single base substitutionGAdownstream_gene_variant
LAML-KR167561563375615633single base substitutionCAdownstream_gene_variant
LICA-CN167560038975600389single base substitutionATmissense_variantK2M5A>T
LICA-CN167560038975600389single base substitutionATupstream_gene_variant
LINC-JP167560264375602643single base substitutionAGdownstream_gene_variant
LINC-JP167560264375602643single base substitutionAGintron_variant
LIRI-JP167559813875598138single base substitutionTCupstream_gene_variant
LIRI-JP167559916375599163single base substitutionTCupstream_gene_variant
LIRI-JP167559990375599903single base substitutionGCupstream_gene_variant
LIRI-JP167560326675603266single base substitutionGAdownstream_gene_variant
LIRI-JP167560326675603266single base substitutionGAintron_variant
LIRI-JP167560394375603943single base substitutionGTdownstream_gene_variant
LIRI-JP167560394375603943single base substitutionGTintron_variant
LIRI-JP167560725375607253single base substitutionCAdownstream_gene_variant
LIRI-JP167560725375607253single base substitutionCAintron_variant
LIRI-JP167560725375607253single base substitutionCAupstream_gene_variant
LIRI-JP167560955075609550single base substitutionGAexon_variant
LIRI-JP167560955075609550single base substitutionGAintron_variant
LIRI-JP167560960975609609single base substitutionATexon_variant
LIRI-JP167560960975609609single base substitutionATintron_variant
LIRI-JP167561029275610292single base substitutionCAexon_variant
LIRI-JP167561029275610292single base substitutionCAintron_variant
LUSC-KR167559785075597850single base substitutionAGupstream_gene_variant
LUSC-KR167559843575598435single base substitutionGTupstream_gene_variant
LUSC-KR167559864575598645single base substitutionCTupstream_gene_variant
LUSC-KR167560010975600109single base substitutionCGupstream_gene_variant
LUSC-KR167560015175600151single base substitutionCTupstream_gene_variant
LUSC-KR167560564375605643single base substitutionCTdownstream_gene_variant
LUSC-KR167560564375605643single base substitutionCTintron_variant
LUSC-KR167560564375605643single base substitutionCTupstream_gene_variant
LUSC-KR167561663075616630single base substitutionCTdownstream_gene_variant
MALY-DE167560552175605521single base substitutionTGdownstream_gene_variant
MALY-DE167560552175605521single base substitutionTGintron_variant
MALY-DE167560552175605521single base substitutionTGupstream_gene_variant
MALY-DE167560870075608700single base substitutionCAintron_variant
MALY-DE167560870075608700single base substitutionCAupstream_gene_variant
MALY-DE167561500175615001single base substitutionTAdownstream_gene_variant
MELA-AU167559527675595276single base substitutionCTupstream_gene_variant
MELA-AU167559581375595813single base substitutionGAupstream_gene_variant
MELA-AU167559583375595833single base substitutionCTupstream_gene_variant
MELA-AU167559583775595837single base substitutionTAupstream_gene_variant
MELA-AU167559610975596109single base substitutionGAupstream_gene_variant
MELA-AU167559611175596111single base substitutionCTupstream_gene_variant
MELA-AU167559618775596187single base substitutionCTupstream_gene_variant
MELA-AU167559627075596270single base substitutionCTupstream_gene_variant
MELA-AU167559689375596893single base substitutionCTupstream_gene_variant
MELA-AU167559693575596935single base substitutionGAupstream_gene_variant
MELA-AU167559725375597253single base substitutionGAupstream_gene_variant
MELA-AU167559729475597294single base substitutionGAupstream_gene_variant
MELA-AU167559867575598675single base substitutionCTupstream_gene_variant
MELA-AU167559938175599381single base substitutionCTupstream_gene_variant
MELA-AU167559988775599887single base substitutionCTupstream_gene_variant
MELA-AU167560018275600182single base substitutionCTupstream_gene_variant
MELA-AU167560019175600191single base substitutionGAupstream_gene_variant
MELA-AU167560020275600202single base substitutionCTupstream_gene_variant
MELA-AU167560020475600204single base substitutionGAupstream_gene_variant
MELA-AU167560021275600212single base substitutionGAupstream_gene_variant
MELA-AU167560079375600793single base substitutionCT5_prime_UTR_premature_start_codon_gain_variant
MELA-AU167560079375600793single base substitutionCTsynonymous_variantP26P78C>T
MELA-AU167560224175602241single base substitutionCT3_prime_UTR_variant
MELA-AU167560224175602241single base substitutionCTintron_variant
MELA-AU167560231975602319single base substitutionTAdownstream_gene_variant
MELA-AU167560231975602319single base substitutionTAintron_variant
MELA-AU167560310775603107deletion of <=200bpT-downstream_gene_variant
MELA-AU167560310775603107deletion of <=200bpT-intron_variant
MELA-AU167560378375603783single base substitutionCTdownstream_gene_variant
MELA-AU167560378375603783single base substitutionCTintron_variant
MELA-AU167560453475604534single base substitutionCTdownstream_gene_variant
MELA-AU167560453475604534single base substitutionCTintron_variant
MELA-AU167560453475604534single base substitutionCTupstream_gene_variant
MELA-AU167560522575605225single base substitutionTCdownstream_gene_variant
MELA-AU167560522575605225single base substitutionTCintron_variant
MELA-AU167560522575605225single base substitutionTCupstream_gene_variant
MELA-AU167560667675606676single base substitutionGAdownstream_gene_variant
MELA-AU167560667675606676single base substitutionGAintron_variant
MELA-AU167560667675606676single base substitutionGAupstream_gene_variant
MELA-AU167560845675608457multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU167560845675608457multiple base substitution (>=2bp and <=200bp)GGAAupstream_gene_variant
MELA-AU167560959075609590single base substitutionCTexon_variant
MELA-AU167560959075609590single base substitutionCTintron_variant
MELA-AU167561144375611443single base substitutionGA3_prime_UTR_variant
MELA-AU167561144375611443single base substitutionGAdownstream_gene_variant
MELA-AU167561144375611443single base substitutionGAexon_variant
MELA-AU167561169675611696single base substitutionAG3_prime_UTR_variant
MELA-AU167561169675611696single base substitutionAGdownstream_gene_variant
MELA-AU167561169675611696single base substitutionAGexon_variant
MELA-AU167561238075612380single base substitutionCGdownstream_gene_variant
MELA-AU167561360175613601single base substitutionCTdownstream_gene_variant
MELA-AU167561518175615181insertion of <=200bp-Adownstream_gene_variant
MELA-AU167561538275615382single base substitutionCTdownstream_gene_variant
MELA-AU167561599775615997single base substitutionCTdownstream_gene_variant
ORCA-IN167561563975615639insertion of <=200bp-Gdownstream_gene_variant
OV-AU167560709175607091single base substitutionTGdownstream_gene_variant
OV-AU167560709175607091single base substitutionTGintron_variant
OV-AU167560709175607091single base substitutionTGupstream_gene_variant
OV-AU167561252875612528single base substitutionATdownstream_gene_variant
OV-AU167561401675614016single base substitutionATdownstream_gene_variant
PACA-AU167559585775595857single base substitutionCTupstream_gene_variant
PACA-AU167559736675597366single base substitutionGAupstream_gene_variant
PACA-AU167560130075601300single base substitutionCTintron_variant
PACA-AU167560758075607580single base substitutionGAintron_variant
PACA-AU167560758075607580single base substitutionGAupstream_gene_variant
PACA-AU167561059475610594single base substitutionGTexon_variant
PACA-AU167561059475610594single base substitutionGTintron_variant
PACA-CA167559583475595834single base substitutionGAupstream_gene_variant
PACA-CA167559646475596464single base substitutionGAupstream_gene_variant
PACA-CA167559783075597830single base substitutionCTupstream_gene_variant
PACA-CA167559793575597935single base substitutionAGupstream_gene_variant
PACA-CA167560411875604118single base substitutionCTdownstream_gene_variant
PACA-CA167560411875604118single base substitutionCTintron_variant
PACA-CA167560898675608986single base substitutionATintron_variant
PACA-CA167560898675608986single base substitutionATupstream_gene_variant
PACA-CA167561244875612448single base substitutionGAdownstream_gene_variant
PACA-CA167561524475615244single base substitutionTCdownstream_gene_variant
PACA-CA167561642275616422single base substitutionCTdownstream_gene_variant
PBCA-DE167561047075610470single base substitutionGAexon_variant
PBCA-DE167561047075610470single base substitutionGAintron_variant
READ-US167560206975602069single base substitutionGAintron_variant
READ-US167560206975602069single base substitutionGAsynonymous_variantA15A45G>A
READ-US167560206975602069single base substitutionGAsynonymous_variantA75A225G>A
RECA-EU167559619675596196single base substitutionCTupstream_gene_variant
RECA-EU167559772075597720single base substitutionCTupstream_gene_variant
RECA-EU167560308075603080single base substitutionTGdownstream_gene_variant
RECA-EU167560308075603080single base substitutionTGintron_variant
RECA-EU167560779975607799single base substitutionAGintron_variant
RECA-EU167560779975607799single base substitutionAGupstream_gene_variant
RECA-EU167561033875610338single base substitutionTCexon_variant
RECA-EU167561033875610338single base substitutionTCintron_variant
RECA-EU167561284475612844single base substitutionCTdownstream_gene_variant
RECA-EU167561356275613562single base substitutionAGdownstream_gene_variant
SKCA-BR167560021775600217single base substitutionGAupstream_gene_variant
SKCA-BR167560021875600218single base substitutionGAupstream_gene_variant
SKCA-BR167560047575600475single base substitutionTCintron_variant
SKCA-BR167560047575600475single base substitutionTCupstream_gene_variant
SKCA-BR167560959275609592single base substitutionACexon_variant
SKCA-BR167560959275609592single base substitutionACintron_variant
SKCA-BR167561446275614462single base substitutionGAdownstream_gene_variant
STAD-US167560202175602021single base substitutionGA5_prime_UTR_variant
STAD-US167560202175602021single base substitutionGAintron_variant
STAD-US167560202175602021single base substitutionGAsynonymous_variantQ59Q177G>A
STAD-US167561125375611253single base substitutionAC3_prime_UTR_variant
STAD-US167561125375611253single base substitutionACexon_variant
STAD-US167561125375611253single base substitutionACmissense_variantT114P340A>C
STAD-US167561125375611253single base substitutionACmissense_variantT54P160A>C
UCEC-US167560198575601985single base substitutionGA5_prime_UTR_variant
UCEC-US167560198575601985single base substitutionGAintron_variant
UCEC-US167560198575601985single base substitutionGAsynonymous_variantR47R141G>A
UCEC-US167560209475602094single base substitutionGTintron_variant
UCEC-US167560209475602094single base substitutionGTmissense_variantV24F70G>T
UCEC-US167560209475602094single base substitutionGTmissense_variantV84F250G>T
UCEC-US167561124475611244single base substitutionGA3_prime_UTR_variant
UCEC-US167561124475611244single base substitutionGAexon_variant
UCEC-US167561124475611244single base substitutionGAmissense_variantG111R331G>A
UCEC-US167561124475611244single base substitutionGAmissense_variantG51R151G>A
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
TCGA-AP-A051-01COSM973750c.250G>Tp.V84FSubstitution - Missense16:75568196-75568196+
10-P4110COSM4579276c.285C>Tp.Y95YSubstitution - coding silent16:75577300-75577300+
S01563COSM311336c.53C>Ap.S18YSubstitution - Missense16:75566870-75566870+
TCGA-AP-A056-01COSM973751c.331G>Ap.G111RSubstitution - Missense16:75577346-75577346+
TCGA-EI-6882-01COSM3421163c.225G>Ap.A75ASubstitution - coding silent16:75568171-75568171+
TCGA-04-1338-01COSM77747c.337A>Gp.N113DSubstitution - Missense16:75577352-75577352+
sysucc-1370TCOSM5470568c.291G>Ap.K97KSubstitution - coding silent16:75577306-75577306+
HCC063TCOSM5812359c.5A>Tp.K2MSubstitution - Missense16:75566491-75566491+
TCGA-BR-6458-01COSM4062859c.177G>Ap.Q59QSubstitution - coding silent16:75568123-75568123+
ESCC_94COSM5637379c.139C>Tp.R47WSubstitution - Missense16:75568085-75568085+
TCGA-BR-8680-01COSM4062860c.340A>Cp.T114PSubstitution - Missense16:75577355-75577355+
TCGA-AP-A0LM-01COSM973749c.141G>Ap.R47RSubstitution - coding silent16:75568087-75568087+
TCGA-AZ-4315-01COSM1379814c.152T>Cp.V51ASubstitution - Missense16:75568098-75568098+
S01563COSM311336c.53C>Ap.S18YSubstitution - Missense16:75566870-75566870+
TCGA-CA-6717-01COSM1379815c.298G>Tp.D100YSubstitution - Missense16:75577313-75577313+
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.461369;Hs.461372;Hs.46137916q22.16074521511750|dbSNP|BC005985|C/T|non-coding||69|Validated;
1511750|dbSNP|BC014594|C/T|non-coding||87|Validated;
1511750|dbSNP|BC029601|C/T|non-coding||118|Validated
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
AGMissensep.N113Dc.337A>G1675611250OV
CAMissensep.S18Yc.53C>A1675600768SCLC
GAIntronicSNV.c.264-707G>A1675610470MB
GASynonymousp.Q59Qc.177G>A1675602021STAD
GCSpliceAcceptorSNV.c.91-1G>C1675601934CM