JOSD2
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
BLCA195100949251009492+Missense_MutationSNPCCTTCGA-DK-A1AC-01A-11D-A13W-08TCGA-DK-A1AC-10A-01D-A13W-08g.chr19:51009492C>Tc.505G>Ac.(505-507)Gag>Aagp.E169K
BLCA195101364051013640+Missense_MutationSNPCCTTCGA-GU-A767-01A-11D-A32B-08TCGA-GU-A767-10A-01D-A329-08g.chr19:51013640C>Tc.49G>Ac.(49-51)Gaa>Aaap.E17K
GBM195100971451009714+Missense_MutationSNPGGATCGA-12-0616-01A-01D-1492-08TCGA-12-0616-10A-01D-1492-08g.chr19:51009714G>Ac.388C>Tc.(388-390)Cgc>Tgcp.R130C
GBMLGG195100971451009714+Missense_MutationSNPGGATCGA-12-0616-01A-01D-1492-08TCGA-12-0616-10A-01D-1492-08g.chr19:51009714G>Ac.388C>Tc.(388-390)Cgc>Tgcp.R130C
HNSC195100945151009451+SilentSNPGGATCGA-QK-A6VC-01A-23D-A34J-08TCGA-QK-A6VC-10B-01D-A34M-08g.chr19:51009451G>Ac.546C>Tc.(544-546)ggC>ggTp.G182G
HNSC195101085351010853+Missense_MutationSNPCCTTCGA-P3-A6SW-01A-11D-A34J-08TCGA-P3-A6SW-10A-01D-A34M-08g.chr19:51010853C>Tc.250G>Ac.(250-252)Gcc>Accp.A84T
KIPAN195101090251010902+Missense_MutationSNPGGTTCGA-A3-3373-01A-02D-1421-08TCGA-A3-3373-11A-01D-1421-08g.chr19:51010902G>Tc.201C>Ac.(199-201)aaC>aaAp.N67K
KIRC195101090251010902+Missense_MutationSNPGGTTCGA-A3-3373-01A-02D-1421-08TCGA-A3-3373-11A-01D-1421-08g.chr19:51010902G>Tc.201C>Ac.(199-201)aaC>aaAp.N67K
LUAD195101094151010941+SilentSNPGGTTCGA-MP-A4TD-01A-32D-A25L-08TCGA-MP-A4TD-10A-01D-A25L-08g.chr19:51010941G>Tc.162C>Ac.(160-162)tcC>tcAp.S54S
LUAD195101362551013625+Missense_MutationSNPCCGTCGA-05-4397-01A-01D-1265-08TCGA-05-4397-10A-01D-1265-08g.chr19:51013625C>Gc.64G>Cc.(64-66)Gag>Cagp.E22Q
LUSC195101356051013560+SilentSNPGGATCGA-22-5477-01A-01D-1632-08TCGA-22-5477-11A-11D-1632-08g.chr19:51013560G>Ac.129C>Tc.(127-129)gcC>gcTp.A43A
PAAD195101087851010878+SilentSNPGGATCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr19:51010878G>Ac.225C>Tc.(223-225)gcC>gcTp.A75A
PCPG195101365251013652+Missense_MutationSNPTTCTCGA-WB-A81Q-01A-11D-A35I-08TCGA-WB-A81Q-10A-01D-A35G-08g.chr19:51013652T>Cc.37A>Gc.(37-39)Acc>Gccp.T13A
SARC195100943951009439+SilentSNPCCTTCGA-QC-A7B5-01A-11D-A33E-09TCGA-QC-A7B5-11A-11D-A33H-09g.chr19:51009439C>Tc.558G>Ac.(556-558)cgG>cgAp.R186R
SKCM195100968051009680+Missense_MutationSNPGGATCGA-D3-A5GU-06A-11D-A27K-08TCGA-D3-A5GU-10A-01D-A27N-08g.chr19:51009680G>Ac.422C>Tc.(421-423)tCc>tTcp.S141F
SKCM195101358251013582+Missense_MutationSNPTTGTCGA-ER-A19T-06A-11D-A19A-08TCGA-ER-A19T-10A-01D-A19A-08g.chr19:51013582T>Gc.107A>Cc.(106-108)cAg>cCgp.Q36P
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-US195100949251009492single base substitutionCTdownstream_gene_variant
BLCA-US195100949251009492single base substitutionCTmissense_variantE127K379G>A
BLCA-US195100949251009492single base substitutionCTmissense_variantE169K505G>A
BRCA-EU195100490651004906single base substitutionCTdownstream_gene_variant
BRCA-EU195100650851006508single base substitutionCGdownstream_gene_variant
BRCA-EU195100726851007268single base substitutionCTdownstream_gene_variant
BRCA-EU195100908051009080single base substitutionCTdownstream_gene_variant
BRCA-EU195101276851012768single base substitutionCTdownstream_gene_variant
BRCA-EU195101276851012768single base substitutionCTintron_variant
BRCA-EU195101276851012768single base substitutionCTupstream_gene_variant
BRCA-EU195101520851015208insertion of <=200bp-CACAGAGACTCAGGGGACGCGGAupstream_gene_variant
BRCA-EU195101763051017630single base substitutionCTupstream_gene_variant
BRCA-EU195101906751019067single base substitutionCAupstream_gene_variant
BRCA-FR195101444151014441single base substitutionCT5_prime_UTR_variant
BRCA-FR195101444151014441single base substitutionCTupstream_gene_variant
BRCA-US195101702851017028single base substitutionCTupstream_gene_variant
BTCA-JP195100976851009768single base substitutionCTdownstream_gene_variant
BTCA-JP195100976851009768single base substitutionCTexon_variant
BTCA-JP195100976851009768single base substitutionCTmissense_variantV112M334G>A
BTCA-JP195100976851009768single base substitutionCTmissense_variantV70M208G>A
BTCA-JP195101555951015559single base substitutionGTupstream_gene_variant
BTCA-JP195101595351015953single base substitutionCTupstream_gene_variant
BTCA-JP195101597651015976single base substitutionCGupstream_gene_variant
COAD-US195100966351009663single base substitutionCTdownstream_gene_variant
COAD-US195100966351009663single base substitutionCTmissense_variantE105K313G>A
COAD-US195100966351009663single base substitutionCTmissense_variantE147K439G>A
COAD-US195101540451015404single base substitutionTCupstream_gene_variant
COAD-US195101570651015706single base substitutionCTupstream_gene_variant
COAD-US195101581351015813single base substitutionGAupstream_gene_variant
COAD-US195101626751016267single base substitutionGAupstream_gene_variant
COCA-CN195100959151009591single base substitutionGTdownstream_gene_variant
COCA-CN195100959151009591single base substitutionGTintron_variant
COCA-CN195101082151010821single base substitutionTGdownstream_gene_variant
COCA-CN195101082151010821single base substitutionTGintron_variant
COCA-CN195101491251014913multiple base substitution (>=2bp and <=200bp)TGGTupstream_gene_variant
COCA-CN195101520751015207single base substitutionGAupstream_gene_variant
COCA-CN195101592951015929single base substitutionCTupstream_gene_variant
COCA-CN195101695351016953single base substitutionTCupstream_gene_variant
COCA-CN195101766051017660single base substitutionGAupstream_gene_variant
EOPC-DE195101126351011263single base substitutionTCdownstream_gene_variant
EOPC-DE195101126351011263single base substitutionTCexon_variant
EOPC-DE195101126351011263single base substitutionTCintron_variant
ESAD-UK195100461351004613single base substitutionTGdownstream_gene_variant
ESAD-UK195100570951005709single base substitutionTAdownstream_gene_variant
ESAD-UK195100571151005711single base substitutionTAdownstream_gene_variant
ESAD-UK195100587151005871single base substitutionTGdownstream_gene_variant
ESAD-UK195100724151007241single base substitutionCTdownstream_gene_variant
ESAD-UK195100821051008210single base substitutionTGdownstream_gene_variant
ESAD-UK195100827851008278single base substitutionCTdownstream_gene_variant
ESAD-UK195101141351011413single base substitutionCTdownstream_gene_variant
ESAD-UK195101141351011413single base substitutionCTintron_variant
ESAD-UK195101141351011413single base substitutionCTupstream_gene_variant
ESAD-UK195101181451011814single base substitutionGAdownstream_gene_variant
ESAD-UK195101181451011814single base substitutionGAintron_variant
ESAD-UK195101181451011814single base substitutionGAupstream_gene_variant
ESAD-UK195101271951012719single base substitutionCTdownstream_gene_variant
ESAD-UK195101271951012719single base substitutionCTintron_variant
ESAD-UK195101271951012719single base substitutionCTupstream_gene_variant
ESAD-UK195101372351013723single base substitutionGAintron_variant
ESAD-UK195101372351013723single base substitutionGAupstream_gene_variant
ESAD-UK195101500951015009single base substitutionCAupstream_gene_variant
ESAD-UK195101934251019342single base substitutionTGupstream_gene_variant
GBM-US195100971451009714single base substitutionGAdownstream_gene_variant
GBM-US195100971451009714single base substitutionGAexon_variant
GBM-US195100971451009714single base substitutionGAmissense_variantR130C388C>T
GBM-US195100971451009714single base substitutionGAmissense_variantR88C262C>T
KIRC-US195101090251010902single base substitutionGTdownstream_gene_variant
KIRC-US195101090251010902single base substitutionGTexon_variant
KIRC-US195101090251010902single base substitutionGTintron_variant
KIRC-US195101090251010902single base substitutionGTmissense_variantN67K201C>A
LAML-KR195101180851011808single base substitutionACdownstream_gene_variant
LAML-KR195101180851011808single base substitutionACintron_variant
LAML-KR195101180851011808single base substitutionACupstream_gene_variant
LICA-FR195101551951015519single base substitutionCAupstream_gene_variant
LIHC-US195101594851015948single base substitutionGAupstream_gene_variant
LINC-JP195101332951013329single base substitutionGAdownstream_gene_variant
LINC-JP195101332951013329single base substitutionGAintron_variant
LINC-JP195101332951013329single base substitutionGAupstream_gene_variant
LIRI-JP195101396151013961insertion of <=200bp-Aintron_variant
LIRI-JP195101396151013961insertion of <=200bp-Aupstream_gene_variant
LUSC-KR195100703451007034single base substitutionGCdownstream_gene_variant
LUSC-KR195100806151008061single base substitutionGTdownstream_gene_variant
LUSC-KR195100915751009157single base substitutionCTdownstream_gene_variant
LUSC-KR195101068651010686single base substitutionCAdownstream_gene_variant
LUSC-KR195101068651010686single base substitutionCAintron_variant
LUSC-KR195101211051012110single base substitutionCAdownstream_gene_variant
LUSC-KR195101211051012110single base substitutionCAintron_variant
LUSC-KR195101211051012110single base substitutionCAupstream_gene_variant
LUSC-KR195101415051014150single base substitutionGAintron_variant
LUSC-KR195101415051014150single base substitutionGAupstream_gene_variant
LUSC-KR195101437251014372single base substitutionAC5_prime_UTR_variant
LUSC-KR195101437251014372single base substitutionACsplice_donor_variant
LUSC-KR195101437251014372single base substitutionACupstream_gene_variant
LUSC-US195101356051013560single base substitutionGAexon_variant
LUSC-US195101356051013560single base substitutionGAsynonymous_variantA43A129C>T
LUSC-US195101356051013560single base substitutionGAupstream_gene_variant
LUSC-US195101580751015807single base substitutionCTupstream_gene_variant
MELA-AU195100444851004448single base substitutionGAdownstream_gene_variant
MELA-AU195100447051004471multiple base substitution (>=2bp and <=200bp)GGAAdownstream_gene_variant
MELA-AU195100459951004599single base substitutionCTdownstream_gene_variant
MELA-AU195100500251005002single base substitutionGCdownstream_gene_variant
MELA-AU195100506951005069single base substitutionCTdownstream_gene_variant
MELA-AU195100527151005271single base substitutionCTdownstream_gene_variant
MELA-AU195100579151005791single base substitutionCTdownstream_gene_variant
MELA-AU195100580451005804single base substitutionGAdownstream_gene_variant
MELA-AU195100592851005928single base substitutionGAdownstream_gene_variant
MELA-AU195100656251006562single base substitutionCTdownstream_gene_variant
MELA-AU195100730051007300single base substitutionACdownstream_gene_variant
MELA-AU195100954751009548multiple base substitution (>=2bp and <=200bp)GGAAdownstream_gene_variant
MELA-AU195100954751009548multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU195100994851009948single base substitutionTAdownstream_gene_variant
MELA-AU195100994851009948single base substitutionTAintron_variant
MELA-AU195101085251010852single base substitutionGAdownstream_gene_variant
MELA-AU195101085251010852single base substitutionGAexon_variant
MELA-AU195101085251010852single base substitutionGAintron_variant
MELA-AU195101085251010852single base substitutionGAmissense_variantA84V251C>T
MELA-AU195101088751010887single base substitutionCTdownstream_gene_variant
MELA-AU195101088751010887single base substitutionCTexon_variant
MELA-AU195101088751010887single base substitutionCTintron_variant
MELA-AU195101088751010887single base substitutionCTsynonymous_variantV72V216G>A
MELA-AU195101153251011532single base substitutionGAdownstream_gene_variant
MELA-AU195101153251011532single base substitutionGAintron_variant
MELA-AU195101153251011532single base substitutionGAupstream_gene_variant
MELA-AU195101156851011568single base substitutionGAdownstream_gene_variant
MELA-AU195101156851011568single base substitutionGAintron_variant
MELA-AU195101156851011568single base substitutionGAupstream_gene_variant
MELA-AU195101168051011680single base substitutionCTdownstream_gene_variant
MELA-AU195101168051011680single base substitutionCTintron_variant
MELA-AU195101168051011680single base substitutionCTupstream_gene_variant
MELA-AU195101440451014404single base substitutionGA5_prime_UTR_variant
MELA-AU195101440451014404single base substitutionGAupstream_gene_variant
MELA-AU195101456851014568single base substitutionGA5_prime_UTR_variant
MELA-AU195101456851014568single base substitutionGAupstream_gene_variant
MELA-AU195101465351014653single base substitutionGAupstream_gene_variant
MELA-AU195101487951014879single base substitutionCTupstream_gene_variant
MELA-AU195101566651015666single base substitutionGAupstream_gene_variant
MELA-AU195101570451015704single base substitutionCTupstream_gene_variant
MELA-AU195101591051015910single base substitutionGAupstream_gene_variant
MELA-AU195101608251016082single base substitutionGAupstream_gene_variant
MELA-AU195101624951016249single base substitutionCTupstream_gene_variant
MELA-AU195101632851016328single base substitutionGAupstream_gene_variant
MELA-AU195101649351016493single base substitutionCTupstream_gene_variant
MELA-AU195101671051016710single base substitutionGAupstream_gene_variant
MELA-AU195101693551016935single base substitutionTCupstream_gene_variant
MELA-AU195101702151017021single base substitutionGAupstream_gene_variant
MELA-AU195101708451017084single base substitutionCTupstream_gene_variant
MELA-AU195101750151017501single base substitutionCTupstream_gene_variant
MELA-AU195101850251018502single base substitutionCTupstream_gene_variant
MELA-AU195101851351018513single base substitutionCTupstream_gene_variant
MELA-AU195101886851018868single base substitutionCGupstream_gene_variant
MELA-AU195101891951018919single base substitutionGAupstream_gene_variant
MELA-AU195101926351019263single base substitutionGAupstream_gene_variant
ORCA-IN195101541651015416single base substitutionGTupstream_gene_variant
OV-AU195100488351004883single base substitutionCTdownstream_gene_variant
OV-AU195100651651006516single base substitutionCAdownstream_gene_variant
OV-AU195100719251007192single base substitutionCAdownstream_gene_variant
OV-AU195100833551008335single base substitutionGAdownstream_gene_variant
OV-AU195101293951012939single base substitutionCGdownstream_gene_variant
OV-AU195101293951012939single base substitutionCGintron_variant
OV-AU195101293951012939single base substitutionCGupstream_gene_variant
OV-AU195101356951013583deletion of <=200bpCTGGCTAAAGAGCTG-exon_variant
OV-AU195101356951013583deletion of <=200bpCTGGCTAAAGAGCTG-inframe_deletionQLFSQ36
OV-AU195101356951013583deletion of <=200bpCTGGCTAAAGAGCTG-upstream_gene_variant
OV-AU195101475551014755single base substitutionGTupstream_gene_variant
OV-AU195101529351015293single base substitutionCGupstream_gene_variant
PACA-AU195100750751007507deletion of <=200bpC-downstream_gene_variant
PACA-AU195101667451016674single base substitutionCGupstream_gene_variant
PACA-CA195100437451004374single base substitutionACdownstream_gene_variant
PACA-CA195100437551004375single base substitutionGTdownstream_gene_variant
PACA-CA195100577851005778single base substitutionGAdownstream_gene_variant
PACA-CA195100645151006451single base substitutionAGdownstream_gene_variant
PACA-CA195100659551006595single base substitutionTCdownstream_gene_variant
PACA-CA195100726851007268single base substitutionCTdownstream_gene_variant
PACA-CA195101847351018473single base substitutionTGupstream_gene_variant
PAEN-IT195101480751014807single base substitutionACupstream_gene_variant
PBCA-DE195101343451013434single base substitutionCTexon_variant
PBCA-DE195101343451013434single base substitutionCTintron_variant
PBCA-DE195101343451013434single base substitutionCTupstream_gene_variant
PRAD-UK195101097351010973single base substitutionCAdownstream_gene_variant
PRAD-UK195101097351010973single base substitutionCAexon_variant
PRAD-UK195101097351010973single base substitutionCAintron_variant
PRAD-UK195101248451012484single base substitutionGAdownstream_gene_variant
PRAD-UK195101248451012484single base substitutionGAintron_variant
PRAD-UK195101248451012484single base substitutionGAupstream_gene_variant
READ-US195101540451015404single base substitutionTCupstream_gene_variant
RECA-EU195101520251015202single base substitutionGCupstream_gene_variant
RECA-EU195101820451018204single base substitutionGAupstream_gene_variant
SKCA-BR195100456451004564single base substitutionGAdownstream_gene_variant
SKCA-BR195100893551008935single base substitutionAGdownstream_gene_variant
SKCA-BR195100931451009314single base substitutionAG3_prime_UTR_variant
SKCA-BR195100931451009314single base substitutionAGdownstream_gene_variant
SKCA-BR195100956151009561single base substitutionGCdownstream_gene_variant
SKCA-BR195100956151009561single base substitutionGCintron_variant
SKCA-BR195101049151010491single base substitutionTCdownstream_gene_variant
SKCA-BR195101049151010491single base substitutionTCintron_variant
SKCA-BR195101180851011808single base substitutionACdownstream_gene_variant
SKCA-BR195101180851011808single base substitutionACintron_variant
SKCA-BR195101180851011808single base substitutionACupstream_gene_variant
SKCA-BR195101520751015207insertion of <=200bp-GCACAGAGACTCAGGGGACGCGGAupstream_gene_variant
SKCM-US195100968051009680single base substitutionGAdownstream_gene_variant
SKCM-US195100968051009680single base substitutionGAmissense_variantS141F422C>T
SKCM-US195100968051009680single base substitutionGAmissense_variantS99F296C>T
SKCM-US195101358251013582single base substitutionTGexon_variant
SKCM-US195101358251013582single base substitutionTGmissense_variantQ36P107A>C
SKCM-US195101358251013582single base substitutionTGupstream_gene_variant
SKCM-US195101540951015409single base substitutionGAupstream_gene_variant
STAD-US195100949251009492single base substitutionCTdownstream_gene_variant
STAD-US195100949251009492single base substitutionCTmissense_variantE127K379G>A
STAD-US195100949251009492single base substitutionCTmissense_variantE169K505G>A
STAD-US195101539351015393single base substitutionCAupstream_gene_variant
STAD-US195101568051015682deletion of <=200bpGCC-upstream_gene_variant
THCA-SA195101551851015518deletion of <=200bpT-upstream_gene_variant
THCA-US195101578051015780single base substitutionCTupstream_gene_variant
UCEC-US195100966851009668single base substitutionGAdownstream_gene_variant
UCEC-US195100966851009668single base substitutionGAmissense_variantA103V308C>T
UCEC-US195100966851009668single base substitutionGAmissense_variantA145V434C>T
UCEC-US195101354351013543single base substitutionCTexon_variant
UCEC-US195101354351013543single base substitutionCTmissense_variantR49K146G>A
UCEC-US195101354351013543single base substitutionCTupstream_gene_variant
UCEC-US195101362251013622single base substitutionGAexon_variant
UCEC-US195101362251013622single base substitutionGAsynonymous_variantL23L67C>T
UCEC-US195101362251013622single base substitutionGAupstream_gene_variant
UCEC-US195101362751013627single base substitutionAGexon_variant
UCEC-US195101362751013627single base substitutionAGmissense_variantL21P62T>C
UCEC-US195101362751013627single base substitutionAGupstream_gene_variant
UCEC-US195101542751015427single base substitutionGAupstream_gene_variant
UCEC-US195101705251017052single base substitutionCTupstream_gene_variant
UCEC-US195101773651017736single base substitutionTGupstream_gene_variant
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
2COSM5731942c.454G>Cp.E152QSubstitution - Missense19:50506391-50506391-
KM12COSM4639069c.378G>Ap.W126*Substitution - Nonsense19:50506467-50506467-
2492728COSM5729701c.360G>Ap.P120PSubstitution - coding silent19:50506485-50506485-
TCGA-BR-4184-01COSM1304953c.505G>Ap.E169KSubstitution - Missense19:50506235-50506235-
ESCC_77COSM5635359c.406T>Cp.Y136HSubstitution - Missense19:50506439-50506439-
C135COSM4617967c.133G>Tp.E45*Substitution - Nonsense19:50510299-50510299-
TCGA-DK-A1AC-01COSM1304953c.505G>Ap.E169KSubstitution - Missense19:50506235-50506235-
TCGA-BS-A0UF-01COSM999748c.146G>Ap.R49KSubstitution - Missense19:50510286-50510286-
HCT-15COSM1681239c.43T>Cp.Y15HSubstitution - Missense19:50510389-50510389-
WA16COSM240282c.365G>Ap.R122HSubstitution - Missense19:50506480-50506480-
T2269COSM4693893c.195C>Tp.T65TSubstitution - coding silent19:50507651-50507651-
PT37COSM5921444c.529G>Ap.E177KSubstitution - Missense19:50506211-50506211-
TCGA-D3-A5GU-06COSM3537268c.422C>Tp.S141FSubstitution - Missense19:50506423-50506423-
TCGA-D1-A17Q-01COSM999750c.62T>Cp.L21PSubstitution - Missense19:50510370-50510370-
sysucc-311TCOSM5464674c.272+10A>Cp.?Unknown19:50507564-50507564-
TCGA-BS-A0UF-01COSM999747c.434C>Tp.A145VSubstitution - Missense19:50506411-50506411-
TCGA-12-0616-01COSM3404483c.388C>Tp.R130CSubstitution - Missense19:50506457-50506457-
2492729COSM5729701c.360G>Ap.P120PSubstitution - coding silent19:50506485-50506485-
TCGA-G4-6302-01COSM3693000c.439G>Ap.E147KSubstitution - Missense19:50506406-50506406-
TCGA-ER-A19T-06COSM4897689c.107A>Cp.Q36PSubstitution - Missense19:50510325-50510325-
TCGA-22-5477-01COSM713293c.129C>Tp.A43ASubstitution - coding silent19:50510303-50510303-
HT115COSM2754841c.223G>Ap.A75TSubstitution - Missense19:50507623-50507623-
388COSM3722226c.438C>Tp.P146PSubstitution - coding silent19:50506407-50506407-
BD72TCOSM5513566c.334G>Ap.V112MSubstitution - Missense19:50506511-50506511-
TCGA-A3-3373-01COSM475085c.201C>Ap.N67KSubstitution - Missense19:50507645-50507645-
ccRCC-10COSM1662340c.508G>Ap.V170MSubstitution - Missense19:50506232-50506232-
SNU-C4COSM4653198c.431G>Ap.R144QSubstitution - Missense19:50506414-50506414-
LUAD_E00522COSM352758c.216G>Ap.V72VSubstitution - coding silent19:50507630-50507630-
CSCC-18-TCOSM4523556c.121G>Ap.E41KSubstitution - Missense19:50510311-50510311-
2492729COSM5726744c.42G>Ap.V14VSubstitution - coding silent19:50510390-50510390-
HCT15COSM1681239c.43T>Cp.Y15HSubstitution - Missense19:50510389-50510389-
TCGA-D1-A17Q-01COSM999749c.67C>Tp.L23LSubstitution - coding silent19:50510365-50510365-
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.46715119q13.332403422|CGAP|BC062416|A/G|non-coding||684|Validated
Hs.737551;Hs.737552;Hs.737553;Hs.737554;Hs.737555;Hs.737556;Hs.737557;Hs.737558;Hs.737559;Hs.737560;Hs.737561;Hs.737564;Hs.737565;Hs.737566;Hs.737567;Hs.737568;Hs.737569;Hs.737570;Hs.737571;Hs.737572;Hs.737575;Hs.737576;Hs.737577;Hs.737579;Hs.737581;Hs.737582;Hs.737583;Hs.737584;Hs.737585;Hs.737586;Hs.737587;Hs.737588;Hs.737589;Hs.737590;Hs.737591;Hs.737592;Hs.737593;Hs.737594;Hs.737595;Hs.737596;Hs.73759719q13.332403422|CGAP|BC062416|A/G|non-coding||684|Validated
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
CASynonymousp.P5Pc.15G>T1951013674LUAD
CGMissensep.E22Qc.64G>C1951013625LUAD
GAMissensep.R130Cc.388C>T1951009714GBM
GASynonymousp.A43Ac.129C>T1951013560LUSC
GTMissensep.N67Kc.201C>A1951010902RCCC