Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 9 138836948 138836948 + Missense_Mutation SNP C C T TCGA-GD-A6C6-01A-21D-A31L-08 TCGA-GD-A6C6-10A-01D-A31J-08 g.chr9:138836948C>T c.802G>A c.(802-804)Gag>Aag p.E268K BLCA 9 138847184 138847184 + Silent SNP C C T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr9:138847184C>T c.216G>A c.(214-216)ctG>ctA p.L72L BRCA 9 138845595 138845595 + Silent SNP G G C TCGA-A2-A04W-01A-31D-A10Y-09 TCGA-A2-A04W-10A-01D-A110-09 g.chr9:138845595G>C c.264C>G c.(262-264)gtC>gtG p.V88V CESC 9 138847247 138847247 + Silent SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 g.chr9:138847247G>A c.153C>T c.(151-153)agC>agT p.S51S CHOL 9 138836946 138836946 + Missense_Mutation SNP C C A TCGA-W5-AA2O-01A-11D-A417-09 TCGA-W5-AA2O-10A-01D-A41A-09 g.chr9:138836946C>A c.804G>T c.(802-804)gaG>gaT p.E268D COAD 9 138831605 138831605 + Splice_Site SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr9:138831605C>T c.877G>A c.(877-879)Gcc>Acc p.A293T COAD 9 138836959 138836959 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr9:138836959C>T c.791G>A c.(790-792)aGc>aAc p.S264N COAD 9 138838170 138838170 + Silent SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr9:138838170C>T c.489G>A c.(487-489)gcG>gcA p.A163A COAD 9 138839700 138839700 + Missense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr9:138839700C>T c.385G>A c.(385-387)Gcc>Acc p.A129T COAD 9 138845575 138845575 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr9:138845575C>T c.284G>A c.(283-285)cGt>cAt p.R95H COADREAD 9 138831605 138831605 + Splice_Site SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr9:138831605C>T c.877G>A c.(877-879)Gcc>Acc p.A293T COADREAD 9 138836916 138836916 + Silent SNP G G A TCGA-AF-3400-01A-01W-0831-10 TCGA-AF-3400-10A-01W-0831-10 g.chr9:138836916G>A c.834C>T c.(832-834)ttC>ttT p.F278F COADREAD 9 138836919 138836919 + Silent SNP G G A TCGA-AF-3400-01A-01W-0831-10 TCGA-AF-3400-10A-01W-0831-10 g.chr9:138836919G>A c.831C>T c.(829-831)atC>atT p.I277I COADREAD 9 138836959 138836959 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr9:138836959C>T c.791G>A c.(790-792)aGc>aAc p.S264N COADREAD 9 138838167 138838167 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:138838167C>A c.492G>T c.(490-492)caG>caT p.Q164H COADREAD 9 138838170 138838170 + Silent SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr9:138838170C>T c.489G>A c.(487-489)gcG>gcA p.A163A COADREAD 9 138839700 138839700 + Missense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr9:138839700C>T c.385G>A c.(385-387)Gcc>Acc p.A129T COADREAD 9 138845575 138845575 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr9:138845575C>T c.284G>A c.(283-285)cGt>cAt p.R95H ESCA 9 138830109 138830109 + Missense_Mutation SNP G G A TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 g.chr9:138830109G>A c.1061C>T c.(1060-1062)cCg>cTg p.P354L HNSC 9 138825301 138825301 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 g.chr9:138825301G>A c.1163C>T c.(1162-1164)aCg>aTg p.T388M KIPAN 9 138839743 138839743 + Silent SNP T T C TCGA-BQ-7045-01A-31D-1961-08 TCGA-BQ-7045-11A-01D-1961-08 g.chr9:138839743T>C c.342A>G c.(340-342)caA>caG p.Q114Q KIRP 9 138839743 138839743 + Silent SNP T T C TCGA-BQ-7045-01A-31D-1961-08 TCGA-BQ-7045-11A-01D-1961-08 g.chr9:138839743T>C c.342A>G c.(340-342)caA>caG p.Q114Q LIHC 9 138825357 138825357 + Frame_Shift_Del DEL A A - TCGA-DD-AACF-01A-11D-A40R-10 TCGA-DD-AACF-10A-01D-A40U-10 g.chr9:138825357delA c.1107delT c.(1105-1107)tttfs p.F369fs LIHC 9 138836944 138836944 + Missense_Mutation SNP T T G TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr9:138836944T>G c.806A>C c.(805-807)gAg>gCg p.E269A LIHC 9 138837090 138837090 + Silent SNP C C A TCGA-UB-A7MD-01A-12D-A34Z-10 TCGA-UB-A7MD-10A-01D-A34Z-10 g.chr9:138837090C>A c.660G>T c.(658-660)tcG>tcT p.S220S LIHC 9 138838155 138838155 + Silent SNP C C A TCGA-DD-AACW-01A-11D-A40R-10 TCGA-DD-AACW-10A-01D-A40U-10 g.chr9:138838155C>A c.504G>T c.(502-504)gcG>gcT p.A168A LIHC 9 138845578 138845578 + Frame_Shift_Del DEL T T - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr9:138845578delT c.281delA c.(280-282)aagfs p.K94fs LUAD 9 138825275 138825275 + Missense_Mutation SNP T T C TCGA-55-8085-01A-11D-2238-08 TCGA-55-8085-10A-01D-2238-08 g.chr9:138825275T>C c.1189A>G c.(1189-1191)Aga>Gga p.R397G LUAD 9 138825299 138825299 + Missense_Mutation SNP C C A TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr9:138825299C>A c.1165G>T c.(1165-1167)Ggg>Tgg p.G389W LUAD 9 138830161 138830161 + Missense_Mutation SNP C C A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr9:138830161C>A c.1009G>T c.(1009-1011)Gac>Tac p.D337Y LUAD 9 138837002 138837002 + Missense_Mutation SNP C C T TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 g.chr9:138837002C>T c.748G>A c.(748-750)Gag>Aag p.E250K LUAD 9 138837785 138837785 + Silent SNP C C A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr9:138837785C>A c.603G>T c.(601-603)acG>acT p.T201T LUAD 9 138838168 138838168 + Missense_Mutation SNP T T A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr9:138838168T>A c.491A>T c.(490-492)cAg>cTg p.Q164L LUSC 9 138830184 138830184 + Missense_Mutation SNP C C T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr9:138830184C>T c.986G>A c.(985-987)cGg>cAg p.R329Q LUSC 9 138831596 138831596 + Missense_Mutation SNP A A C TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 g.chr9:138831596A>C c.886T>G c.(886-888)Tcc>Gcc p.S296A LUSC 9 138838190 138838190 + Missense_Mutation SNP C C T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 g.chr9:138838190C>T c.469G>A c.(469-471)Gtg>Atg p.V157M PRAD 9 138837764 138837764 + Missense_Mutation SNP G G C TCGA-CH-5791-01A-11D-1576-08 TCGA-CH-5791-10A-01D-1576-08 g.chr9:138837764G>C c.624C>G c.(622-624)aaC>aaG p.N208K READ 9 138836916 138836916 + Silent SNP G G A TCGA-AF-3400-01A-01W-0831-10 TCGA-AF-3400-10A-01W-0831-10 g.chr9:138836916G>A c.834C>T c.(832-834)ttC>ttT p.F278F READ 9 138836919 138836919 + Silent SNP G G A TCGA-AF-3400-01A-01W-0831-10 TCGA-AF-3400-10A-01W-0831-10 g.chr9:138836919G>A c.831C>T c.(829-831)atC>atT p.I277I READ 9 138838167 138838167 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr9:138838167C>A c.492G>T c.(490-492)caG>caT p.Q164H SARC 9 138831595 138831595 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 g.chr9:138831595G>A c.887C>T c.(886-888)tCc>tTc p.S296F SKCM 9 138830123 138830123 + Silent SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr9:138830123G>A c.1047C>T c.(1045-1047)gcC>gcT p.A349A SKCM 9 138831522 138831522 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr9:138831522G>A c.960C>T c.(958-960)gcC>gcT p.A320A

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 9 138839752 138839752 insertion of <=200bp - T exon_variant ALL-US 9 138839752 138839752 insertion of <=200bp - T splice_acceptor_variant ALL-US 9 138839752 138839752 insertion of <=200bp - T upstream_gene_variant BOCA-FR 9 138830039 138830039 single base substitution G A downstream_gene_variant BOCA-FR 9 138830039 138830039 single base substitution G A intron_variant BRCA-EU 9 138822522 138822522 single base substitution C T downstream_gene_variant BRCA-EU 9 138822805 138822805 single base substitution G A downstream_gene_variant BRCA-EU 9 138823029 138823029 single base substitution G A downstream_gene_variant BRCA-EU 9 138823682 138823682 single base substitution G A downstream_gene_variant BRCA-EU 9 138825462 138825462 single base substitution C T downstream_gene_variant BRCA-EU 9 138825462 138825462 single base substitution C T intron_variant BRCA-EU 9 138826736 138826736 deletion of <=200bp T - downstream_gene_variant BRCA-EU 9 138826736 138826736 deletion of <=200bp T - intron_variant BRCA-EU 9 138827397 138827397 single base substitution G C downstream_gene_variant BRCA-EU 9 138827397 138827397 single base substitution G C intron_variant BRCA-EU 9 138827782 138827782 single base substitution G A downstream_gene_variant BRCA-EU 9 138827782 138827782 single base substitution G A intron_variant BRCA-EU 9 138828892 138828892 single base substitution C T downstream_gene_variant BRCA-EU 9 138828892 138828892 single base substitution C T intron_variant BRCA-EU 9 138829255 138829255 single base substitution C G downstream_gene_variant BRCA-EU 9 138829255 138829255 single base substitution C G intron_variant BRCA-EU 9 138830492 138830492 single base substitution T C downstream_gene_variant BRCA-EU 9 138830492 138830492 single base substitution T C intron_variant BRCA-EU 9 138830838 138830838 single base substitution G A downstream_gene_variant BRCA-EU 9 138830838 138830838 single base substitution G A intron_variant BRCA-EU 9 138831670 138831670 single base substitution G A intron_variant BRCA-EU 9 138832168 138832168 single base substitution G A intron_variant BRCA-EU 9 138833545 138833545 single base substitution G A intron_variant BRCA-EU 9 138834244 138834244 single base substitution C T intron_variant BRCA-EU 9 138835663 138835663 single base substitution G C downstream_gene_variant BRCA-EU 9 138835663 138835663 single base substitution G C intron_variant BRCA-EU 9 138838152 138838152 single base substitution C T downstream_gene_variant BRCA-EU 9 138838152 138838152 single base substitution C T exon_variant BRCA-EU 9 138838152 138838152 single base substitution C T synonymous_variant L169L 507G>A BRCA-EU 9 138838152 138838152 single base substitution C T upstream_gene_variant BRCA-EU 9 138839140 138839140 single base substitution G A downstream_gene_variant BRCA-EU 9 138839140 138839140 single base substitution G A intron_variant BRCA-EU 9 138839140 138839140 single base substitution G A upstream_gene_variant BRCA-EU 9 138839254 138839254 single base substitution C T downstream_gene_variant BRCA-EU 9 138839254 138839254 single base substitution C T intron_variant BRCA-EU 9 138839254 138839254 single base substitution C T upstream_gene_variant BRCA-EU 9 138839734 138839734 single base substitution T G exon_variant BRCA-EU 9 138839734 138839734 single base substitution T G missense_variant K117N 351A>C BRCA-EU 9 138839734 138839734 single base substitution T G upstream_gene_variant BRCA-EU 9 138840012 138840012 single base substitution C A intron_variant BRCA-EU 9 138840012 138840012 single base substitution C A upstream_gene_variant BRCA-EU 9 138840853 138840853 single base substitution G C intron_variant BRCA-EU 9 138840853 138840853 single base substitution G C upstream_gene_variant BRCA-EU 9 138841616 138841616 single base substitution T A intron_variant BRCA-EU 9 138841616 138841616 single base substitution T A upstream_gene_variant BRCA-EU 9 138841633 138841633 single base substitution A C intron_variant BRCA-EU 9 138841633 138841633 single base substitution A C upstream_gene_variant BRCA-EU 9 138843631 138843631 single base substitution G C intron_variant BRCA-EU 9 138843631 138843631 single base substitution G C upstream_gene_variant BRCA-EU 9 138843649 138843649 single base substitution T A intron_variant BRCA-EU 9 138843649 138843649 single base substitution T A upstream_gene_variant BRCA-EU 9 138844512 138844512 single base substitution A C intron_variant BRCA-EU 9 138844512 138844512 single base substitution A C upstream_gene_variant BRCA-EU 9 138844586 138844586 single base substitution G A intron_variant BRCA-EU 9 138844586 138844586 single base substitution G A upstream_gene_variant BRCA-EU 9 138846869 138846869 single base substitution T A intron_variant BRCA-EU 9 138846869 138846869 single base substitution T A upstream_gene_variant BRCA-EU 9 138852244 138852244 single base substitution G A intron_variant BRCA-EU 9 138852886 138852886 single base substitution C G exon_variant BRCA-EU 9 138852886 138852886 single base substitution C G missense_variant E41D 123G>C BRCA-EU 9 138854505 138854505 single base substitution C A upstream_gene_variant BRCA-EU 9 138854666 138854666 single base substitution G C upstream_gene_variant BRCA-EU 9 138855307 138855307 single base substitution T C upstream_gene_variant BRCA-EU 9 138856767 138856767 single base substitution C A upstream_gene_variant BRCA-EU 9 138857545 138857545 single base substitution G A upstream_gene_variant BRCA-FR 9 138821792 138821792 single base substitution C T downstream_gene_variant BRCA-FR 9 138824264 138824264 single base substitution T G downstream_gene_variant BRCA-FR 9 138825462 138825462 single base substitution C T downstream_gene_variant BRCA-FR 9 138825462 138825462 single base substitution C T intron_variant BRCA-FR 9 138832168 138832168 single base substitution G A intron_variant BRCA-FR 9 138834244 138834244 single base substitution C T intron_variant BRCA-FR 9 138839140 138839140 single base substitution G A downstream_gene_variant BRCA-FR 9 138839140 138839140 single base substitution G A intron_variant BRCA-FR 9 138839140 138839140 single base substitution G A upstream_gene_variant BRCA-FR 9 138844511 138844511 single base substitution G A intron_variant BRCA-FR 9 138844511 138844511 single base substitution G A upstream_gene_variant BRCA-FR 9 138852244 138852244 single base substitution G A intron_variant BRCA-FR 9 138857545 138857545 single base substitution G A upstream_gene_variant BRCA-US 9 138845595 138845595 single base substitution G C exon_variant BRCA-US 9 138845595 138845595 single base substitution G C synonymous_variant V88V 264C>G BTCA-JP 9 138839602 138839602 single base substitution G A downstream_gene_variant BTCA-JP 9 138839602 138839602 single base substitution G A exon_variant BTCA-JP 9 138839602 138839602 single base substitution G A intron_variant BTCA-JP 9 138839602 138839602 single base substitution G A upstream_gene_variant BTCA-JP 9 138847261 138847261 single base substitution A C missense_variant C47G 139T>G BTCA-JP 9 138847261 138847261 single base substitution A C splice_region_variant BTCA-JP 9 138847261 138847261 single base substitution A C upstream_gene_variant CESC-US 9 138847247 138847247 single base substitution G A exon_variant CESC-US 9 138847247 138847247 single base substitution G A synonymous_variant S51S 153C>T CESC-US 9 138847247 138847247 single base substitution G A upstream_gene_variant CLLE-ES 9 138853017 138853017 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant CLLE-ES 9 138853017 138853017 single base substitution C A exon_variant CLLE-ES 9 138858033 138858033 single base substitution G A upstream_gene_variant COAD-US 9 138830081 138830081 single base substitution C T downstream_gene_variant COAD-US 9 138830081 138830081 single base substitution C T exon_variant COAD-US 9 138830081 138830081 single base substitution C T synonymous_variant P363P 1089G>A COAD-US 9 138836959 138836959 single base substitution C T downstream_gene_variant COAD-US 9 138836959 138836959 single base substitution C T exon_variant COAD-US 9 138836959 138836959 single base substitution C T missense_variant S264N 791G>A COAD-US 9 138836959 138836959 single base substitution C T upstream_gene_variant COAD-US 9 138845575 138845575 single base substitution C T exon_variant COAD-US 9 138845575 138845575 single base substitution C T missense_variant R95H 284G>A COAD-US 9 138847255 138847255 single base substitution G A exon_variant COAD-US 9 138847255 138847255 single base substitution G A missense_variant H49Y 145C>T COAD-US 9 138847255 138847255 single base substitution G A upstream_gene_variant COAD-US 9 138852904 138852904 single base substitution C G exon_variant COAD-US 9 138852904 138852904 single base substitution C G synonymous_variant S35S 105G>C COCA-CN 9 138830171 138830171 single base substitution C T downstream_gene_variant COCA-CN 9 138830171 138830171 single base substitution C T exon_variant COCA-CN 9 138830171 138830171 single base substitution C T synonymous_variant P333P 999G>A COCA-CN 9 138831641 138831641 single base substitution G A intron_variant COCA-CN 9 138831729 138831729 single base substitution G A intron_variant COCA-CN 9 138839888 138839888 single base substitution C T exon_variant COCA-CN 9 138839888 138839888 single base substitution C T intron_variant COCA-CN 9 138839888 138839888 single base substitution C T upstream_gene_variant COCA-CN 9 138845445 138845445 single base substitution C T intron_variant COCA-CN 9 138857235 138857235 single base substitution G T upstream_gene_variant ESAD-UK 9 138820786 138820786 single base substitution C T downstream_gene_variant ESAD-UK 9 138822559 138822559 single base substitution G A downstream_gene_variant ESAD-UK 9 138824991 138824991 single base substitution G A 3_prime_UTR_variant ESAD-UK 9 138824991 138824991 single base substitution G A exon_variant ESAD-UK 9 138825378 138825378 single base substitution G A downstream_gene_variant ESAD-UK 9 138825378 138825378 single base substitution G A intron_variant ESAD-UK 9 138825853 138825853 single base substitution G A downstream_gene_variant ESAD-UK 9 138825853 138825853 single base substitution G A intron_variant ESAD-UK 9 138828975 138828975 single base substitution G A downstream_gene_variant ESAD-UK 9 138828975 138828975 single base substitution G A intron_variant ESAD-UK 9 138829085 138829085 single base substitution C T downstream_gene_variant ESAD-UK 9 138829085 138829085 single base substitution C T intron_variant ESAD-UK 9 138829220 138829220 single base substitution G A downstream_gene_variant ESAD-UK 9 138829220 138829220 single base substitution G A intron_variant ESAD-UK 9 138832741 138832741 single base substitution G A intron_variant ESAD-UK 9 138833690 138833690 single base substitution C T intron_variant ESAD-UK 9 138836906 138836906 single base substitution G A downstream_gene_variant ESAD-UK 9 138836906 138836906 single base substitution G A exon_variant ESAD-UK 9 138836906 138836906 single base substitution G A missense_variant R282W 844C>T ESAD-UK 9 138838695 138838700 deletion of <=200bp CAGCTC - downstream_gene_variant ESAD-UK 9 138838695 138838700 deletion of <=200bp CAGCTC - intron_variant ESAD-UK 9 138838695 138838700 deletion of <=200bp CAGCTC - upstream_gene_variant ESAD-UK 9 138840314 138840314 single base substitution T C intron_variant ESAD-UK 9 138840314 138840314 single base substitution T C upstream_gene_variant ESAD-UK 9 138840774 138840774 single base substitution G A intron_variant ESAD-UK 9 138840774 138840774 single base substitution G A upstream_gene_variant ESAD-UK 9 138842756 138842756 single base substitution C T intron_variant ESAD-UK 9 138842756 138842756 single base substitution C T upstream_gene_variant ESAD-UK 9 138844645 138844645 single base substitution C T intron_variant ESAD-UK 9 138844645 138844645 single base substitution C T upstream_gene_variant ESAD-UK 9 138846149 138846149 single base substitution C T intron_variant ESAD-UK 9 138846149 138846149 single base substitution C T upstream_gene_variant ESAD-UK 9 138856162 138856162 single base substitution G A upstream_gene_variant ESAD-UK 9 138856610 138856610 deletion of <=200bp G - upstream_gene_variant ESCA-CN 9 138845541 138845541 single base substitution G C exon_variant ESCA-CN 9 138845541 138845541 single base substitution G C synonymous_variant V106V 318C>G KIRP-US 9 138839743 138839743 single base substitution T C exon_variant KIRP-US 9 138839743 138839743 single base substitution T C synonymous_variant Q114Q 342A>G KIRP-US 9 138839743 138839743 single base substitution T C upstream_gene_variant LAML-KR 9 138839618 138839618 single base substitution C T downstream_gene_variant LAML-KR 9 138839618 138839618 single base substitution C T exon_variant LAML-KR 9 138839618 138839618 single base substitution C T intron_variant LAML-KR 9 138839618 138839618 single base substitution C T upstream_gene_variant LICA-CN 9 138831542 138831542 single base substitution T A downstream_gene_variant LICA-CN 9 138831542 138831542 single base substitution T A exon_variant LICA-CN 9 138831542 138831542 single base substitution T A missense_variant N314Y 940A>T LICA-FR 9 138830095 138830095 single base substitution C T downstream_gene_variant LICA-FR 9 138830095 138830095 single base substitution C T exon_variant LICA-FR 9 138830095 138830095 single base substitution C T missense_variant G359S 1075G>A LICA-FR 9 138836906 138836906 single base substitution G T downstream_gene_variant LICA-FR 9 138836906 138836906 single base substitution G T exon_variant LICA-FR 9 138836906 138836906 single base substitution G T synonymous_variant R282R 844C>A LICA-FR 9 138845556 138845556 insertion of <=200bp - G exon_variant LICA-FR 9 138845556 138845556 insertion of <=200bp - G frameshift_variant P101P? LIHC-US 9 138837090 138837090 single base substitution C A downstream_gene_variant LIHC-US 9 138837090 138837090 single base substitution C A exon_variant LIHC-US 9 138837090 138837090 single base substitution C A synonymous_variant S220S 660G>T LIHC-US 9 138837090 138837090 single base substitution C A upstream_gene_variant LINC-JP 9 138820906 138820906 single base substitution C G downstream_gene_variant LINC-JP 9 138828999 138828999 single base substitution C A downstream_gene_variant LINC-JP 9 138828999 138828999 single base substitution C A intron_variant LINC-JP 9 138830651 138830651 single base substitution G C downstream_gene_variant LINC-JP 9 138830651 138830651 single base substitution G C intron_variant LINC-JP 9 138837055 138837055 single base substitution G A downstream_gene_variant LINC-JP 9 138837055 138837055 single base substitution G A exon_variant LINC-JP 9 138837055 138837055 single base substitution G A missense_variant A232V 695C>T LINC-JP 9 138837055 138837055 single base substitution G A upstream_gene_variant LINC-JP 9 138838226 138838226 deletion of <=200bp A - downstream_gene_variant LINC-JP 9 138838226 138838226 deletion of <=200bp A - intron_variant LINC-JP 9 138838226 138838226 deletion of <=200bp A - upstream_gene_variant LINC-JP 9 138846695 138846695 single base substitution C T intron_variant LINC-JP 9 138846695 138846695 single base substitution C T upstream_gene_variant LIRI-JP 9 138825120 138825120 single base substitution T C 3_prime_UTR_variant LIRI-JP 9 138825120 138825120 single base substitution T C exon_variant LIRI-JP 9 138826322 138826322 single base substitution C T downstream_gene_variant LIRI-JP 9 138826322 138826322 single base substitution C T intron_variant LIRI-JP 9 138828128 138828128 single base substitution T C downstream_gene_variant LIRI-JP 9 138828128 138828128 single base substitution T C intron_variant LIRI-JP 9 138829656 138829656 single base substitution T C downstream_gene_variant LIRI-JP 9 138829656 138829656 single base substitution T C intron_variant LIRI-JP 9 138831925 138831925 single base substitution C A intron_variant LIRI-JP 9 138832735 138832735 single base substitution T C intron_variant LIRI-JP 9 138835244 138835244 single base substitution C T downstream_gene_variant LIRI-JP 9 138835244 138835244 single base substitution C T intron_variant LIRI-JP 9 138835397 138835397 single base substitution T C downstream_gene_variant LIRI-JP 9 138835397 138835397 single base substitution T C intron_variant LIRI-JP 9 138837090 138837090 single base substitution C A downstream_gene_variant LIRI-JP 9 138837090 138837090 single base substitution C A exon_variant LIRI-JP 9 138837090 138837090 single base substitution C A synonymous_variant S220S 660G>T LIRI-JP 9 138837090 138837090 single base substitution C A upstream_gene_variant LIRI-JP 9 138837479 138837479 single base substitution C T downstream_gene_variant LIRI-JP 9 138837479 138837479 single base substitution C T exon_variant LIRI-JP 9 138837479 138837479 single base substitution C T intron_variant LIRI-JP 9 138837479 138837479 single base substitution C T upstream_gene_variant LIRI-JP 9 138837642 138837642 single base substitution G C downstream_gene_variant LIRI-JP 9 138837642 138837642 single base substitution G C intron_variant LIRI-JP 9 138837642 138837642 single base substitution G C upstream_gene_variant LIRI-JP 9 138839093 138839093 single base substitution T A downstream_gene_variant LIRI-JP 9 138839093 138839093 single base substitution T A intron_variant LIRI-JP 9 138839093 138839093 single base substitution T A upstream_gene_variant LIRI-JP 9 138839319 138839319 single base substitution G A downstream_gene_variant LIRI-JP 9 138839319 138839319 single base substitution G A intron_variant LIRI-JP 9 138839319 138839319 single base substitution G A upstream_gene_variant LIRI-JP 9 138842093 138842093 single base substitution C T intron_variant LIRI-JP 9 138842093 138842093 single base substitution C T upstream_gene_variant LIRI-JP 9 138845753 138845753 single base substitution G A intron_variant LIRI-JP 9 138845753 138845753 single base substitution G A upstream_gene_variant LIRI-JP 9 138849174 138849174 single base substitution C T intron_variant LIRI-JP 9 138849174 138849174 single base substitution C T upstream_gene_variant LIRI-JP 9 138856598 138856598 single base substitution C T upstream_gene_variant LUSC-KR 9 138822756 138822756 single base substitution C T downstream_gene_variant LUSC-KR 9 138826495 138826495 single base substitution G C downstream_gene_variant LUSC-KR 9 138826495 138826495 single base substitution G C intron_variant LUSC-KR 9 138834214 138834214 single base substitution G C intron_variant LUSC-KR 9 138836320 138836320 single base substitution G T downstream_gene_variant LUSC-KR 9 138836320 138836320 single base substitution G T intron_variant LUSC-KR 9 138836640 138836640 single base substitution C T downstream_gene_variant LUSC-KR 9 138836640 138836640 single base substitution C T intron_variant LUSC-KR 9 138843967 138843967 single base substitution C A intron_variant LUSC-KR 9 138843967 138843967 single base substitution C A upstream_gene_variant LUSC-KR 9 138854018 138854018 single base substitution G T upstream_gene_variant LUSC-KR 9 138855345 138855345 single base substitution G T upstream_gene_variant LUSC-US 9 138830184 138830184 single base substitution C T downstream_gene_variant LUSC-US 9 138830184 138830184 single base substitution C T exon_variant LUSC-US 9 138830184 138830184 single base substitution C T missense_variant R329Q 986G>A LUSC-US 9 138831596 138831596 single base substitution A C exon_variant LUSC-US 9 138831596 138831596 single base substitution A C missense_variant S296A 886T>G LUSC-US 9 138838190 138838190 single base substitution C T downstream_gene_variant LUSC-US 9 138838190 138838190 single base substitution C T exon_variant LUSC-US 9 138838190 138838190 single base substitution C T missense_variant V157M 469G>A LUSC-US 9 138838190 138838190 single base substitution C T upstream_gene_variant MALY-DE 9 138819852 138819853 deletion of <=200bp CA - downstream_gene_variant MALY-DE 9 138822830 138822830 single base substitution C A downstream_gene_variant MALY-DE 9 138827789 138827789 single base substitution G A downstream_gene_variant MALY-DE 9 138827789 138827789 single base substitution G A intron_variant MALY-DE 9 138832186 138832186 single base substitution G A intron_variant MALY-DE 9 138837412 138837412 single base substitution A G downstream_gene_variant MALY-DE 9 138837412 138837412 single base substitution A G exon_variant MALY-DE 9 138837412 138837412 single base substitution A G intron_variant MALY-DE 9 138837412 138837412 single base substitution A G upstream_gene_variant MALY-DE 9 138843689 138843689 single base substitution A G intron_variant MALY-DE 9 138843689 138843689 single base substitution A G upstream_gene_variant MALY-DE 9 138843986 138843986 single base substitution G A intron_variant MALY-DE 9 138843986 138843986 single base substitution G A upstream_gene_variant MALY-DE 9 138846047 138846047 single base substitution A C intron_variant MALY-DE 9 138846047 138846047 single base substitution A C upstream_gene_variant MALY-DE 9 138851410 138851410 single base substitution G A intron_variant MELA-AU 9 138819957 138819957 single base substitution A G downstream_gene_variant MELA-AU 9 138820951 138820951 single base substitution G A downstream_gene_variant MELA-AU 9 138820965 138820965 single base substitution G A downstream_gene_variant MELA-AU 9 138822158 138822158 single base substitution C T downstream_gene_variant MELA-AU 9 138822185 138822185 single base substitution G A downstream_gene_variant MELA-AU 9 138822686 138822686 single base substitution G A downstream_gene_variant MELA-AU 9 138823008 138823008 single base substitution G A downstream_gene_variant MELA-AU 9 138823105 138823105 single base substitution G A downstream_gene_variant MELA-AU 9 138823805 138823805 single base substitution G A downstream_gene_variant MELA-AU 9 138824177 138824177 single base substitution C G downstream_gene_variant MELA-AU 9 138824400 138824401 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 9 138824406 138824406 single base substitution G A downstream_gene_variant MELA-AU 9 138824619 138824619 single base substitution G A downstream_gene_variant MELA-AU 9 138824985 138824985 single base substitution G A 3_prime_UTR_variant MELA-AU 9 138824985 138824985 single base substitution G A exon_variant MELA-AU 9 138826032 138826032 single base substitution G A downstream_gene_variant MELA-AU 9 138826032 138826032 single base substitution G A intron_variant MELA-AU 9 138826641 138826641 single base substitution G A downstream_gene_variant MELA-AU 9 138826641 138826641 single base substitution G A intron_variant MELA-AU 9 138826963 138826963 single base substitution G A downstream_gene_variant MELA-AU 9 138826963 138826963 single base substitution G A intron_variant MELA-AU 9 138827264 138827264 single base substitution G A downstream_gene_variant MELA-AU 9 138827264 138827264 single base substitution G A intron_variant MELA-AU 9 138828286 138828286 single base substitution G A downstream_gene_variant MELA-AU 9 138828286 138828286 single base substitution G A intron_variant MELA-AU 9 138828302 138828302 single base substitution G A downstream_gene_variant MELA-AU 9 138828302 138828302 single base substitution G A intron_variant MELA-AU 9 138828365 138828365 single base substitution G A downstream_gene_variant MELA-AU 9 138828365 138828365 single base substitution G A intron_variant MELA-AU 9 138828602 138828602 single base substitution G A downstream_gene_variant MELA-AU 9 138828602 138828602 single base substitution G A intron_variant MELA-AU 9 138829132 138829132 single base substitution G A downstream_gene_variant MELA-AU 9 138829132 138829132 single base substitution G A intron_variant MELA-AU 9 138829864 138829864 single base substitution G A downstream_gene_variant MELA-AU 9 138829864 138829864 single base substitution G A intron_variant MELA-AU 9 138830128 138830128 single base substitution G A downstream_gene_variant MELA-AU 9 138830128 138830128 single base substitution G A exon_variant MELA-AU 9 138830128 138830128 single base substitution G A stop_gained Q348* 1042C>T MELA-AU 9 138830337 138830338 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 9 138830337 138830338 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 138830408 138830408 single base substitution G A downstream_gene_variant MELA-AU 9 138830408 138830408 single base substitution G A intron_variant MELA-AU 9 138831036 138831036 single base substitution G A downstream_gene_variant MELA-AU 9 138831036 138831036 single base substitution G A intron_variant MELA-AU 9 138832565 138832565 single base substitution T G intron_variant MELA-AU 9 138832883 138832883 single base substitution C T intron_variant MELA-AU 9 138833110 138833110 single base substitution G A intron_variant MELA-AU 9 138833185 138833185 single base substitution G A intron_variant MELA-AU 9 138833251 138833251 single base substitution C T intron_variant MELA-AU 9 138833626 138833626 single base substitution C T intron_variant MELA-AU 9 138834459 138834459 single base substitution C G downstream_gene_variant MELA-AU 9 138834459 138834459 single base substitution C G intron_variant MELA-AU 9 138834605 138834605 single base substitution G A downstream_gene_variant MELA-AU 9 138834605 138834605 single base substitution G A intron_variant MELA-AU 9 138834843 138834843 single base substitution G A downstream_gene_variant MELA-AU 9 138834843 138834843 single base substitution G A intron_variant MELA-AU 9 138835242 138835243 multiple base substitution (>=2bp and <=200bp) AC CT downstream_gene_variant MELA-AU 9 138835242 138835243 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 9 138835355 138835355 single base substitution G A downstream_gene_variant MELA-AU 9 138835355 138835355 single base substitution G A intron_variant MELA-AU 9 138835778 138835778 single base substitution G A downstream_gene_variant MELA-AU 9 138835778 138835778 single base substitution G A intron_variant MELA-AU 9 138836032 138836032 single base substitution G A downstream_gene_variant MELA-AU 9 138836032 138836032 single base substitution G A intron_variant MELA-AU 9 138836398 138836398 single base substitution G A downstream_gene_variant MELA-AU 9 138836398 138836398 single base substitution G A intron_variant MELA-AU 9 138836547 138836548 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 9 138836547 138836548 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 138836564 138836564 single base substitution G A downstream_gene_variant MELA-AU 9 138836564 138836564 single base substitution G A intron_variant MELA-AU 9 138836665 138836665 single base substitution G A downstream_gene_variant MELA-AU 9 138836665 138836665 single base substitution G A intron_variant MELA-AU 9 138838247 138838247 single base substitution C T downstream_gene_variant MELA-AU 9 138838247 138838247 single base substitution C T intron_variant MELA-AU 9 138838247 138838247 single base substitution C T upstream_gene_variant MELA-AU 9 138838389 138838389 single base substitution G A downstream_gene_variant MELA-AU 9 138838389 138838389 single base substitution G A intron_variant MELA-AU 9 138838389 138838389 single base substitution G A upstream_gene_variant MELA-AU 9 138838991 138838991 single base substitution G A downstream_gene_variant MELA-AU 9 138838991 138838991 single base substitution G A intron_variant MELA-AU 9 138838991 138838991 single base substitution G A upstream_gene_variant MELA-AU 9 138839212 138839212 single base substitution C A downstream_gene_variant MELA-AU 9 138839212 138839212 single base substitution C A intron_variant MELA-AU 9 138839212 138839212 single base substitution C A upstream_gene_variant MELA-AU 9 138839569 138839569 single base substitution C T downstream_gene_variant MELA-AU 9 138839569 138839569 single base substitution C T exon_variant MELA-AU 9 138839569 138839569 single base substitution C T intron_variant MELA-AU 9 138839569 138839569 single base substitution C T upstream_gene_variant MELA-AU 9 138839701 138839701 single base substitution G A downstream_gene_variant MELA-AU 9 138839701 138839701 single base substitution G A exon_variant MELA-AU 9 138839701 138839701 single base substitution G A synonymous_variant T128T 384C>T MELA-AU 9 138839701 138839701 single base substitution G A upstream_gene_variant MELA-AU 9 138839826 138839826 single base substitution G A exon_variant MELA-AU 9 138839826 138839826 single base substitution G A intron_variant MELA-AU 9 138839826 138839826 single base substitution G A upstream_gene_variant MELA-AU 9 138839839 138839839 single base substitution G A exon_variant MELA-AU 9 138839839 138839839 single base substitution G A intron_variant MELA-AU 9 138839839 138839839 single base substitution G A upstream_gene_variant MELA-AU 9 138840152 138840152 single base substitution G A intron_variant MELA-AU 9 138840152 138840152 single base substitution G A upstream_gene_variant MELA-AU 9 138840200 138840200 single base substitution G A intron_variant MELA-AU 9 138840200 138840200 single base substitution G A upstream_gene_variant MELA-AU 9 138840641 138840641 single base substitution G T intron_variant MELA-AU 9 138840641 138840641 single base substitution G T upstream_gene_variant MELA-AU 9 138840741 138840741 single base substitution C A intron_variant MELA-AU 9 138840741 138840741 single base substitution C A upstream_gene_variant MELA-AU 9 138841182 138841182 single base substitution G A intron_variant MELA-AU 9 138841182 138841182 single base substitution G A upstream_gene_variant MELA-AU 9 138841822 138841822 single base substitution G A intron_variant MELA-AU 9 138841822 138841822 single base substitution G A upstream_gene_variant MELA-AU 9 138842077 138842078 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 138842077 138842078 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 9 138842118 138842119 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 138842118 138842119 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 9 138842515 138842515 single base substitution G A intron_variant MELA-AU 9 138842515 138842515 single base substitution G A upstream_gene_variant MELA-AU 9 138842618 138842618 single base substitution G A intron_variant MELA-AU 9 138842618 138842618 single base substitution G A upstream_gene_variant MELA-AU 9 138842884 138842884 single base substitution C A intron_variant MELA-AU 9 138842884 138842884 single base substitution C A upstream_gene_variant MELA-AU 9 138843232 138843232 single base substitution A T intron_variant MELA-AU 9 138843232 138843232 single base substitution A T upstream_gene_variant MELA-AU 9 138843765 138843765 single base substitution C T intron_variant MELA-AU 9 138843765 138843765 single base substitution C T upstream_gene_variant MELA-AU 9 138844631 138844631 single base substitution A T intron_variant MELA-AU 9 138844631 138844631 single base substitution A T upstream_gene_variant MELA-AU 9 138845665 138845665 single base substitution G A exon_variant MELA-AU 9 138845665 138845665 single base substitution G A intron_variant MELA-AU 9 138845698 138845698 single base substitution G A exon_variant MELA-AU 9 138845698 138845698 single base substitution G A intron_variant MELA-AU 9 138847166 138847166 single base substitution G A exon_variant MELA-AU 9 138847166 138847166 single base substitution G A synonymous_variant I78I 234C>T MELA-AU 9 138847166 138847166 single base substitution G A upstream_gene_variant MELA-AU 9 138847667 138847668 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 138847667 138847668 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 9 138847898 138847898 single base substitution G A intron_variant MELA-AU 9 138847898 138847898 single base substitution G A upstream_gene_variant MELA-AU 9 138848421 138848421 single base substitution G A intron_variant MELA-AU 9 138848421 138848421 single base substitution G A upstream_gene_variant MELA-AU 9 138849007 138849007 single base substitution G A intron_variant MELA-AU 9 138849007 138849007 single base substitution G A upstream_gene_variant MELA-AU 9 138849081 138849081 single base substitution G A intron_variant MELA-AU 9 138849081 138849081 single base substitution G A upstream_gene_variant MELA-AU 9 138849135 138849135 single base substitution A G intron_variant MELA-AU 9 138849135 138849135 single base substitution A G upstream_gene_variant MELA-AU 9 138849418 138849418 single base substitution G A intron_variant MELA-AU 9 138849418 138849418 single base substitution G A upstream_gene_variant MELA-AU 9 138850115 138850115 single base substitution G A intron_variant MELA-AU 9 138850115 138850115 single base substitution G A upstream_gene_variant MELA-AU 9 138850276 138850276 single base substitution G A intron_variant MELA-AU 9 138850276 138850276 single base substitution G A upstream_gene_variant MELA-AU 9 138850546 138850547 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 138850546 138850547 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 9 138850553 138850553 single base substitution C T intron_variant MELA-AU 9 138850553 138850553 single base substitution C T upstream_gene_variant MELA-AU 9 138850803 138850803 single base substitution G A intron_variant MELA-AU 9 138851590 138851590 single base substitution G T intron_variant MELA-AU 9 138853213 138853213 single base substitution G A 5_prime_UTR_variant MELA-AU 9 138853213 138853213 single base substitution G A upstream_gene_variant MELA-AU 9 138853289 138853289 single base substitution G A upstream_gene_variant MELA-AU 9 138853317 138853317 single base substitution C T upstream_gene_variant MELA-AU 9 138853334 138853334 single base substitution G A upstream_gene_variant MELA-AU 9 138853382 138853382 single base substitution C T upstream_gene_variant MELA-AU 9 138853392 138853392 single base substitution C T upstream_gene_variant MELA-AU 9 138854523 138854523 single base substitution C T upstream_gene_variant MELA-AU 9 138855495 138855495 single base substitution C T upstream_gene_variant MELA-AU 9 138855670 138855670 single base substitution G T upstream_gene_variant MELA-AU 9 138855875 138855875 single base substitution C T upstream_gene_variant MELA-AU 9 138855876 138855876 single base substitution G A upstream_gene_variant MELA-AU 9 138855899 138855899 single base substitution C T upstream_gene_variant MELA-AU 9 138856028 138856028 single base substitution G A upstream_gene_variant MELA-AU 9 138856040 138856040 single base substitution G A upstream_gene_variant MELA-AU 9 138856061 138856061 single base substitution C T upstream_gene_variant MELA-AU 9 138856206 138856206 single base substitution G A upstream_gene_variant MELA-AU 9 138856274 138856274 single base substitution G A upstream_gene_variant MELA-AU 9 138856294 138856294 single base substitution C T upstream_gene_variant MELA-AU 9 138856644 138856645 multiple base substitution (>=2bp and <=200bp) TC AT upstream_gene_variant MELA-AU 9 138856669 138856669 single base substitution C T upstream_gene_variant MELA-AU 9 138856699 138856699 single base substitution C T upstream_gene_variant MELA-AU 9 138856893 138856893 single base substitution G A upstream_gene_variant MELA-AU 9 138857196 138857196 single base substitution C T upstream_gene_variant MELA-AU 9 138857620 138857620 single base substitution C T upstream_gene_variant MELA-AU 9 138857669 138857669 single base substitution T G upstream_gene_variant MELA-AU 9 138857885 138857885 single base substitution G A upstream_gene_variant MELA-AU 9 138858031 138858031 single base substitution G A upstream_gene_variant MELA-AU 9 138858049 138858049 single base substitution G A upstream_gene_variant MELA-AU 9 138858217 138858217 single base substitution C T upstream_gene_variant ORCA-IN 9 138821422 138821422 single base substitution C T downstream_gene_variant ORCA-IN 9 138827964 138827964 single base substitution C T downstream_gene_variant ORCA-IN 9 138827964 138827964 single base substitution C T intron_variant ORCA-IN 9 138828912 138828912 single base substitution G C downstream_gene_variant ORCA-IN 9 138828912 138828912 single base substitution G C intron_variant ORCA-IN 9 138846999 138846999 single base substitution A G intron_variant ORCA-IN 9 138846999 138846999 single base substitution A G upstream_gene_variant OV-AU 9 138820563 138820563 single base substitution G C downstream_gene_variant OV-AU 9 138820777 138820777 single base substitution C G downstream_gene_variant OV-AU 9 138822395 138822395 single base substitution A G downstream_gene_variant OV-AU 9 138823799 138823799 single base substitution G C downstream_gene_variant OV-AU 9 138833635 138833635 single base substitution A C intron_variant OV-AU 9 138836444 138836444 single base substitution G C downstream_gene_variant OV-AU 9 138836444 138836444 single base substitution G C intron_variant OV-AU 9 138840481 138840481 single base substitution G A intron_variant OV-AU 9 138840481 138840481 single base substitution G A upstream_gene_variant OV-AU 9 138841553 138841553 single base substitution G A intron_variant OV-AU 9 138841553 138841553 single base substitution G A upstream_gene_variant OV-AU 9 138857121 138857121 single base substitution G C upstream_gene_variant PACA-AU 9 138833709 138833709 single base substitution C G intron_variant PACA-AU 9 138837003 138837003 single base substitution G A downstream_gene_variant PACA-AU 9 138837003 138837003 single base substitution G A exon_variant PACA-AU 9 138837003 138837003 single base substitution G A synonymous_variant A249A 747C>T PACA-AU 9 138837003 138837003 single base substitution G A upstream_gene_variant PACA-AU 9 138837371 138837371 insertion of <=200bp - G downstream_gene_variant PACA-AU 9 138837371 138837371 insertion of <=200bp - G exon_variant PACA-AU 9 138837371 138837371 insertion of <=200bp - G intron_variant PACA-AU 9 138837371 138837371 insertion of <=200bp - G upstream_gene_variant PACA-AU 9 138837437 138837437 single base substitution G A downstream_gene_variant PACA-AU 9 138837437 138837437 single base substitution G A exon_variant PACA-AU 9 138837437 138837437 single base substitution G A intron_variant PACA-AU 9 138837437 138837437 single base substitution G A upstream_gene_variant PACA-AU 9 138837525 138837525 single base substitution G A downstream_gene_variant PACA-AU 9 138837525 138837525 single base substitution G A intron_variant PACA-AU 9 138837525 138837525 single base substitution G A upstream_gene_variant PACA-AU 9 138856247 138856247 single base substitution T C upstream_gene_variant PACA-CA 9 138823529 138823529 single base substitution G C downstream_gene_variant PACA-CA 9 138824543 138824543 deletion of <=200bp A - downstream_gene_variant PACA-CA 9 138824776 138824776 single base substitution G A downstream_gene_variant PACA-CA 9 138825877 138825877 single base substitution A G downstream_gene_variant PACA-CA 9 138825877 138825877 single base substitution A G intron_variant PACA-CA 9 138826073 138826073 single base substitution G A downstream_gene_variant PACA-CA 9 138826073 138826073 single base substitution G A intron_variant PACA-CA 9 138826671 138826671 single base substitution G A downstream_gene_variant PACA-CA 9 138826671 138826671 single base substitution G A intron_variant PACA-CA 9 138827373 138827373 single base substitution C T downstream_gene_variant PACA-CA 9 138827373 138827373 single base substitution C T intron_variant PACA-CA 9 138827729 138827729 single base substitution G A downstream_gene_variant PACA-CA 9 138827729 138827729 single base substitution G A intron_variant PACA-CA 9 138829919 138829919 single base substitution A G downstream_gene_variant PACA-CA 9 138829919 138829919 single base substitution A G intron_variant PACA-CA 9 138831573 138831573 single base substitution G A downstream_gene_variant PACA-CA 9 138831573 138831573 single base substitution G A exon_variant PACA-CA 9 138831573 138831573 single base substitution G A synonymous_variant D303D 909C>T PACA-CA 9 138831624 138831624 single base substitution G A intron_variant PACA-CA 9 138831632 138831632 single base substitution G A intron_variant PACA-CA 9 138832360 138832360 single base substitution A C intron_variant PACA-CA 9 138836432 138836432 single base substitution G A downstream_gene_variant PACA-CA 9 138836432 138836432 single base substitution G A intron_variant PACA-CA 9 138840998 138840998 single base substitution C T intron_variant PACA-CA 9 138840998 138840998 single base substitution C T upstream_gene_variant PACA-CA 9 138846910 138846910 single base substitution C A intron_variant PACA-CA 9 138846910 138846910 single base substitution C A upstream_gene_variant PACA-CA 9 138848794 138848794 single base substitution A G intron_variant PACA-CA 9 138848794 138848794 single base substitution A G upstream_gene_variant PACA-CA 9 138852991 138852993 deletion of <=200bp CTC - exon_variant PACA-CA 9 138852991 138852993 deletion of <=200bp CTC - inframe_deletion E6 PACA-CA 9 138853207 138853207 single base substitution C G 5_prime_UTR_variant PACA-CA 9 138853207 138853207 single base substitution C G upstream_gene_variant PACA-CA 9 138853473 138853473 single base substitution G T upstream_gene_variant PACA-CA 9 138855024 138855024 single base substitution G C upstream_gene_variant PACA-CA 9 138856391 138856391 single base substitution G A upstream_gene_variant PACA-CA 9 138856620 138856620 single base substitution G T upstream_gene_variant PBCA-DE 9 138819852 138819853 deletion of <=200bp CA - downstream_gene_variant PBCA-DE 9 138822343 138822343 single base substitution G A downstream_gene_variant PBCA-DE 9 138830060 138830060 single base substitution G A downstream_gene_variant PBCA-DE 9 138830060 138830060 single base substitution G A splice_region_variant PBCA-DE 9 138837543 138837545 deletion of <=200bp ACA - downstream_gene_variant PBCA-DE 9 138837543 138837545 deletion of <=200bp ACA - intron_variant PBCA-DE 9 138837543 138837545 deletion of <=200bp ACA - upstream_gene_variant PBCA-DE 9 138843500 138843500 single base substitution C G intron_variant PBCA-DE 9 138843500 138843500 single base substitution C G upstream_gene_variant PRAD-CA 9 138836626 138836626 single base substitution C T downstream_gene_variant PRAD-CA 9 138836626 138836626 single base substitution C T intron_variant PRAD-CA 9 138850252 138850252 single base substitution C T intron_variant PRAD-CA 9 138850252 138850252 single base substitution C T upstream_gene_variant PRAD-UK 9 138820352 138820352 single base substitution G C downstream_gene_variant PRAD-UK 9 138837421 138837421 single base substitution C G downstream_gene_variant PRAD-UK 9 138837421 138837421 single base substitution C G exon_variant PRAD-UK 9 138837421 138837421 single base substitution C G intron_variant PRAD-UK 9 138837421 138837421 single base substitution C G upstream_gene_variant PRAD-UK 9 138843556 138843556 single base substitution T C intron_variant PRAD-UK 9 138843556 138843556 single base substitution T C upstream_gene_variant PRAD-US 9 138837764 138837764 single base substitution G C downstream_gene_variant PRAD-US 9 138837764 138837764 single base substitution G C exon_variant PRAD-US 9 138837764 138837764 single base substitution G C missense_variant N208K 624C>G PRAD-US 9 138837764 138837764 single base substitution G C upstream_gene_variant READ-US 9 138825342 138825342 single base substitution C A downstream_gene_variant READ-US 9 138825342 138825342 single base substitution C A exon_variant READ-US 9 138825342 138825342 single base substitution C A missense_variant E374D 1122G>T RECA-EU 9 138847474 138847474 single base substitution T A intron_variant RECA-EU 9 138847474 138847474 single base substitution T A upstream_gene_variant SKCA-BR 9 138821780 138821780 single base substitution G A downstream_gene_variant SKCA-BR 9 138822118 138822118 single base substitution T C downstream_gene_variant SKCA-BR 9 138823874 138823874 single base substitution T G downstream_gene_variant SKCA-BR 9 138824750 138824750 single base substitution G A downstream_gene_variant SKCA-BR 9 138825305 138825305 single base substitution C T downstream_gene_variant SKCA-BR 9 138825305 138825305 single base substitution C T exon_variant SKCA-BR 9 138825305 138825305 single base substitution C T missense_variant E387K 1159G>A SKCA-BR 9 138827489 138827489 single base substitution G A downstream_gene_variant SKCA-BR 9 138827489 138827489 single base substitution G A intron_variant SKCA-BR 9 138828474 138828474 single base substitution G A downstream_gene_variant SKCA-BR 9 138828474 138828474 single base substitution G A intron_variant SKCA-BR 9 138829132 138829132 single base substitution G A downstream_gene_variant SKCA-BR 9 138829132 138829132 single base substitution G A intron_variant SKCA-BR 9 138830120 138830120 single base substitution G A downstream_gene_variant SKCA-BR 9 138830120 138830120 single base substitution G A exon_variant SKCA-BR 9 138830120 138830120 single base substitution G A synonymous_variant I350I 1050C>T SKCA-BR 9 138830659 138830659 insertion of <=200bp - TG downstream_gene_variant SKCA-BR 9 138830659 138830659 insertion of <=200bp - TG intron_variant SKCA-BR 9 138834496 138834496 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 9 138834496 138834496 insertion of <=200bp - CA intron_variant SKCA-BR 9 138834547 138834547 single base substitution G A downstream_gene_variant SKCA-BR 9 138834547 138834547 single base substitution G A intron_variant SKCA-BR 9 138836105 138836105 single base substitution G A downstream_gene_variant SKCA-BR 9 138836105 138836105 single base substitution G A intron_variant SKCA-BR 9 138837749 138837749 single base substitution G A downstream_gene_variant SKCA-BR 9 138837749 138837749 single base substitution G A exon_variant SKCA-BR 9 138837749 138837749 single base substitution G A synonymous_variant A213A 639C>T SKCA-BR 9 138837749 138837749 single base substitution G A upstream_gene_variant SKCA-BR 9 138839615 138839615 single base substitution A C downstream_gene_variant SKCA-BR 9 138839615 138839615 single base substitution A C exon_variant SKCA-BR 9 138839615 138839615 single base substitution A C intron_variant SKCA-BR 9 138839615 138839615 single base substitution A C upstream_gene_variant SKCA-BR 9 138839624 138839624 single base substitution C T downstream_gene_variant SKCA-BR 9 138839624 138839624 single base substitution C T exon_variant SKCA-BR 9 138839624 138839624 single base substitution C T intron_variant SKCA-BR 9 138839624 138839624 single base substitution C T upstream_gene_variant SKCA-BR 9 138845440 138845440 single base substitution A G intron_variant SKCA-BR 9 138846005 138846005 single base substitution A G intron_variant SKCA-BR 9 138846005 138846005 single base substitution A G upstream_gene_variant SKCA-BR 9 138847571 138847571 single base substitution T G intron_variant SKCA-BR 9 138847571 138847571 single base substitution T G upstream_gene_variant SKCA-BR 9 138847925 138847925 single base substitution A C intron_variant SKCA-BR 9 138847925 138847925 single base substitution A C upstream_gene_variant SKCA-BR 9 138849618 138849619 deletion of <=200bp CT - intron_variant SKCA-BR 9 138849618 138849619 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 9 138849895 138849895 insertion of <=200bp - CT intron_variant SKCA-BR 9 138849895 138849895 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 9 138850673 138850673 single base substitution G A intron_variant SKCA-BR 9 138850673 138850673 single base substitution G A upstream_gene_variant SKCA-BR 9 138851009 138851009 single base substitution C T intron_variant SKCA-BR 9 138851218 138851220 deletion of <=200bp GTT - intron_variant SKCA-BR 9 138852839 138852839 single base substitution T G intron_variant SKCA-BR 9 138853040 138853040 single base substitution A C 5_prime_UTR_variant SKCA-BR 9 138853040 138853040 single base substitution A C exon_variant SKCA-BR 9 138853334 138853334 single base substitution G A upstream_gene_variant SKCA-BR 9 138853399 138853399 single base substitution C T upstream_gene_variant SKCA-BR 9 138853421 138853421 single base substitution A C upstream_gene_variant SKCA-BR 9 138853425 138853425 single base substitution G C upstream_gene_variant SKCM-US 9 138830123 138830123 single base substitution G A downstream_gene_variant SKCM-US 9 138830123 138830123 single base substitution G A exon_variant SKCM-US 9 138830123 138830123 single base substitution G A synonymous_variant A349A 1047C>T SKCM-US 9 138831522 138831522 single base substitution G A downstream_gene_variant SKCM-US 9 138831522 138831522 single base substitution G A exon_variant SKCM-US 9 138831522 138831522 single base substitution G A synonymous_variant A320A 960C>T SKCM-US 9 138837772 138837772 single base substitution G A downstream_gene_variant SKCM-US 9 138837772 138837772 single base substitution G A exon_variant SKCM-US 9 138837772 138837772 single base substitution G A missense_variant P206S 616C>T SKCM-US 9 138837772 138837772 single base substitution G A upstream_gene_variant STAD-US 9 138825253 138825253 single base substitution C T downstream_gene_variant STAD-US 9 138825253 138825253 single base substitution C T exon_variant STAD-US 9 138825253 138825253 single base substitution C T missense_variant R404H 1211G>A STAD-US 9 138825266 138825266 single base substitution G A downstream_gene_variant STAD-US 9 138825266 138825266 single base substitution G A exon_variant STAD-US 9 138825266 138825266 single base substitution G A stop_gained Q400* 1198C>T STAD-US 9 138830109 138830109 single base substitution G A downstream_gene_variant STAD-US 9 138830109 138830109 single base substitution G A exon_variant STAD-US 9 138830109 138830109 single base substitution G A missense_variant P354L 1061C>T STAD-US 9 138830129 138830129 single base substitution A G downstream_gene_variant STAD-US 9 138830129 138830129 single base substitution A G exon_variant STAD-US 9 138830129 138830129 single base substitution A G synonymous_variant F347F 1041T>C STAD-US 9 138831533 138831533 single base substitution G A downstream_gene_variant STAD-US 9 138831533 138831533 single base substitution G A exon_variant STAD-US 9 138831533 138831533 single base substitution G A stop_gained Q317* 949C>T STAD-US 9 138837033 138837033 single base substitution C T downstream_gene_variant STAD-US 9 138837033 138837033 single base substitution C T exon_variant STAD-US 9 138837033 138837033 single base substitution C T synonymous_variant T239T 717G>A STAD-US 9 138837033 138837033 single base substitution C T upstream_gene_variant STAD-US 9 138838155 138838155 single base substitution C T downstream_gene_variant STAD-US 9 138838155 138838155 single base substitution C T exon_variant STAD-US 9 138838155 138838155 single base substitution C T synonymous_variant A168A 504G>A STAD-US 9 138838155 138838155 single base substitution C T upstream_gene_variant STAD-US 9 138847166 138847166 single base substitution G A exon_variant STAD-US 9 138847166 138847166 single base substitution G A synonymous_variant I78I 234C>T STAD-US 9 138847166 138847166 single base substitution G A upstream_gene_variant THCA-SA 9 138852904 138852904 single base substitution C G exon_variant THCA-SA 9 138852904 138852904 single base substitution C G synonymous_variant S35S 105G>C THCA-US 9 138830109 138830109 single base substitution G A downstream_gene_variant THCA-US 9 138830109 138830109 single base substitution G A exon_variant THCA-US 9 138830109 138830109 single base substitution G A missense_variant P354L 1061C>T UCEC-US 9 138825253 138825253 single base substitution C T downstream_gene_variant UCEC-US 9 138825253 138825253 single base substitution C T exon_variant UCEC-US 9 138825253 138825253 single base substitution C T missense_variant R404H 1211G>A UCEC-US 9 138830126 138830126 single base substitution C A downstream_gene_variant UCEC-US 9 138830126 138830126 single base substitution C A exon_variant UCEC-US 9 138830126 138830126 single base substitution C A missense_variant Q348H 1044G>T UCEC-US 9 138830184 138830184 single base substitution C T downstream_gene_variant UCEC-US 9 138830184 138830184 single base substitution C T exon_variant UCEC-US 9 138830184 138830184 single base substitution C T missense_variant R329Q 986G>A UCEC-US 9 138836987 138836987 single base substitution C T downstream_gene_variant UCEC-US 9 138836987 138836987 single base substitution C T exon_variant UCEC-US 9 138836987 138836987 single base substitution C T missense_variant A255T 763G>A UCEC-US 9 138836987 138836987 single base substitution C T upstream_gene_variant UCEC-US 9 138847229 138847229 single base substitution A G exon_variant UCEC-US 9 138847229 138847229 single base substitution A G synonymous_variant S57S 171T>C UCEC-US 9 138847229 138847229 single base substitution A G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EB-A4P0-01 COSM3926435 c.616C>T p.P206S Substitution - Missense 9:135945926-135945926 - TCGA-AA-3715-01 COSM270487 c.489G>A p.A163A Substitution - coding silent 9:135946324-135946324 - CHC301T COSM217442 c.302_303insG p.K102fs*4 Insertion - Frameshift 9:135953710-135953711 - Capan-1 COSM328267 c.961G>A p.A321T Substitution - Missense 9:135939675-135939675 - CHC301T COSM5348755 c.303_304insG p.K102fs*4 Insertion - Frameshift 9:135953709-135953710 - CHC796T COSM4954176 c.844C>A p.R282R Substitution - coding silent 9:135945060-135945060 - BK0006 COSM4185596 c.913A>G p.K305E Substitution - Missense 9:135939723-135939723 - HCC4T COSM1624710 c.442-9delT p.? Unknown 9:135946380-135946380 - TCGA-G4-6588-01 COSM1461028 c.284G>A p.R95H Substitution - Missense 9:135953729-135953729 - TCGA-34-5231-01 COSM753198 c.986G>A p.R329Q Substitution - Missense 9:135938338-135938338 - TCGA-D7-A4YT-01 COSM3905613 c.1198C>T p.Q400* Substitution - Nonsense 9:135933420-135933420 - LUAD-B02477 COSM335965 c.1188T>A p.S396S Substitution - coding silent 9:135933430-135933430 - TCGA-AM-5820-01 COSM3763755 c.1089G>A p.P363P Substitution - coding silent 9:135938235-135938235 - GC8_T COSM150915 c.806_808delAGG p.E269delE Deletion - In frame 9:135945096-135945098 - RK088_C01 COSM3703515 c.660G>T p.S220S Substitution - coding silent 9:135945244-135945244 - TCGA-66-2758-01 COSM753197 c.886T>G p.S296A Substitution - Missense 9:135939750-135939750 - TCGA-AF-3400-01 COSM287755 c.831C>T p.I277I Substitution - coding silent 9:135945073-135945073 - 8067240 COSM3780690 c.747C>T p.A249A Substitution - coding silent 9:135945157-135945157 - S02382 COSM5698046 c.715A>C p.T239P Substitution - Missense 9:135945189-135945189 - TCGA-AD-6964-01 COSM1461027 c.791G>A p.S264N Substitution - Missense 9:135945113-135945113 - CHC796T COSM4954176 c.844C>A p.R282R Substitution - coding silent 9:135945060-135945060 - PDA_055 COSM5000858 c.862C>T p.R288W Substitution - Missense 9:135945042-135945042 - TCGA-UB-A7MD-01 COSM3703515 c.660G>T p.S220S Substitution - coding silent 9:135945244-135945244 - TCGA-EE-A29E-06 COSM3655681 c.960C>T p.A320A Substitution - coding silent 9:135939676-135939676 - 51T COSM110687 c.782delC p.A261fs*14 Deletion - Frameshift 9:135945122-135945122 - CHC892T COSM4795609 c.1075G>A p.G359S Substitution - Missense 9:135938249-135938249 - CHC301T COSM3666657 c.302_303insC p.K102fs*4 Insertion - Frameshift 9:135953710-135953711 - YUKAT COSM5410714 c.369C>T p.A123A Substitution - coding silent 9:135947870-135947870 - TCGA-D1-A15X-01 COSM1106733 c.171T>C p.S57S Substitution - coding silent 9:135955383-135955383 - W040 COSM308176 c.484G>C p.V162L Substitution - Missense 9:135946329-135946329 - TCGA-F5-6814-01 COSM3432980 c.1122G>T p.E374D Substitution - Missense 9:135933496-135933496 - HP1 COSM1165136 c.804G>T p.E268D Substitution - Missense 9:135945100-135945100 - T3557 COSM4738603 c.1021G>C p.D341H Substitution - Missense 9:135938303-135938303 - U373 COSM150915 c.806_808delAGG p.E269delE Deletion - In frame 9:135945096-135945098 - HX13T COSM1624710 c.442-9delT p.? Unknown 9:135946380-135946380 - T2269 COSM4738602 c.1215G>A p.T405T Substitution - coding silent 9:135933403-135933403 - TCGA-BR-4362-01 COSM3905618 c.234C>T p.I78I Substitution - coding silent 9:135955320-135955320 - TCGA-G4-6298-01 COSM3763757 c.105G>C p.S35S Substitution - coding silent 9:135961058-135961058 - TCGA-AP-A0LT-01 COSM1106731 c.763G>A p.A255T Substitution - Missense 9:135945141-135945141 - PD4952a COSM5787941 c.351A>C p.K117N Substitution - Missense 9:135947888-135947888 - TCGA-A5-A0GB-01 COSM1106732 c.690A>G p.E230E Substitution - coding silent 9:135945214-135945214 - P-Thy015 COSM5095125 c.976C>G p.L326V Substitution - Missense 9:135938348-135938348 - 2497781 COSM5750918 c.793G>A p.A265T Substitution - Missense 9:135945111-135945111 - TCGA-HU-A4H8-01 COSM3905616 c.717G>A p.T239T Substitution - coding silent 9:135945187-135945187 - TCGA-EM-A3AQ-01 COSM3375171 c.1061C>T p.P354L Substitution - Missense 9:135938263-135938263 - TCGA-A2-A04W-01 COSM455587 c.264C>G p.V88V Substitution - coding silent 9:135953749-135953749 - TCGA-BQ-7045-01 COSM3996434 c.342A>G p.Q114Q Substitution - coding silent 9:135947897-135947897 - CCK81 COSM3215096 c.16_18delGAG p.E6delE Deletion - In frame 9:135961145-135961147 - SNU-C1 COSM3215089 c.394C>T p.P132S Substitution - Missense 9:135947845-135947845 - TCGA-D1-A103-01 COSM1106729 c.1211G>A p.R404H Substitution - Missense 9:135933407-135933407 - TCGA-BR-8487-01 COSM3905614 c.1041T>C p.F347F Substitution - coding silent 9:135938283-135938283 - T3094 COSM4738602 c.1215G>A p.T405T Substitution - coding silent 9:135933403-135933403 - 075T COSM1730678 c.185A>T p.K62I Substitution - Missense 9:135955369-135955369 - HCC74 COSM1624709 c.695C>T p.A232V Substitution - Missense 9:135945209-135945209 - CHC301T COSM217442 c.302_303insG p.K102fs*4 Insertion - Frameshift 9:135953710-135953711 - TCGA-EE-A2GO-06 COSM3655680 c.1047C>T p.A349A Substitution - coding silent 9:135938277-135938277 - TCGA-CD-5804-01 COSM3905617 c.504G>A p.A168A Substitution - coding silent 9:135946309-135946309 - PTC-70C COSM3763757 c.105G>C p.S35S Substitution - coding silent 9:135961058-135961058 - T3080 COSM4738604 c.1015G>T p.G339C Substitution - Missense 9:135938309-135938309 - TCGA-AP-A059-01 COSM1106730 c.1044G>T p.Q348H Substitution - Missense 9:135938280-135938280 - TCGA-BR-8483-01 COSM3905615 c.949C>T p.Q317* Substitution - Nonsense 9:135939687-135939687 - TCGA-AM-5821-01 COSM3763756 c.145C>T p.H49Y Substitution - Missense 9:135955409-135955409 - HCC74T COSM1624709 c.695C>T p.A232V Substitution - Missense 9:135945209-135945209 - CHC892T COSM4795609 c.1075G>A p.G359S Substitution - Missense 9:135938249-135938249 - T578 COSM4738605 c.561C>T p.D187D Substitution - coding silent 9:135945981-135945981 - QC2-30-T2 COSM5653679 c.388A>T p.N130Y Substitution - Missense 9:135947851-135947851 - LP6005334-DNA_C02 COSM5035986 c.844C>T p.R282W Substitution - Missense 9:135945060-135945060 - sysucc-1072T COSM5482963 c.999G>A p.P333P Substitution - coding silent 9:135938325-135938325 - TCGA-AF-3400-01 COSM287754 c.834C>T p.F278F Substitution - coding silent 9:135945070-135945070 - 5_FL COSM4171868 c.544+1G>T p.? Unknown 9:135946268-135946268 - HCA7 COSM4612242 c.281delA p.K94fs*52 Deletion - Frameshift 9:135953732-135953732 - 2334193 COSM324153 c.359A>G p.D120G Substitution - Missense 9:135947880-135947880 - EGC15 COSM5063760 c.769T>A p.S257T Substitution - Missense 9:135945135-135945135 - HN_62426 COSM130031 c.444C>G p.F148L Substitution - Missense 9:135946369-135946369 - HCC058T COSM5805320 c.940A>T p.N314Y Substitution - Missense 9:135939696-135939696 - TCGA-B5-A11E-01 COSM753198 c.986G>A p.R329Q Substitution - Missense 9:135938338-135938338 - CHEWS027 COSM3215085 c.457C>G p.R153G Substitution - Missense 9:135946356-135946356 - TCGA-BR-8367-01 COSM3375171 c.1061C>T p.P354L Substitution - Missense 9:135938263-135938263 - CSCC-37-T COSM4511742 c.879C>T p.A293A Substitution - coding silent 9:135939757-135939757 - PASFXA COSM5006105 c.334-1_334insA p.Q114fs*8 Unknown 9:135947905-135947906 - ESCC_BICR_027T COSM5443374 c.318C>G p.V106V Substitution - coding silent 9:135953695-135953695 - ESOSCC157T COSM1173468 c.761C>A p.A254E Substitution - Missense 9:135945143-135945143 - TCGA-C5-A1MJ-01 COSM4842862 c.153C>T p.S51S Substitution - coding silent 9:135955401-135955401 - K48 COSM249242 c.806delA p.E269fs*6 Deletion - Frameshift 9:135945098-135945098 - 51T COSM109760 c.780C>T p.A260A Substitution - coding silent 9:135945124-135945124 - 587222 COSM1106729 c.1211G>A p.R404H Substitution - Missense 9:135933407-135933407 - TCGA-66-2757-01 COSM753196 c.469G>A p.V157M Substitution - Missense 9:135946344-135946344 - LUAD-F00257 COSM340309 c.990G>T p.K330N Substitution - Missense 9:135938334-135938334 - PD11752a COSM5783279 c.123G>C p.E41D Substitution - Missense 9:135961040-135961040 - TCGA-CH-5791-01 COSM1132552 c.624C>G p.N208K Substitution - Missense 9:135945918-135945918 - LN229 COSM150915 c.806_808delAGG p.E269delE Deletion - In frame 9:135945096-135945098 - LN18 COSM150915 c.806_808delAGG p.E269delE Deletion - In frame 9:135945096-135945098 - ME020T COSM225639 c.301C>T p.P101S Substitution - Missense 9:135953712-135953712 - TCGA-HF-7132-01 COSM1106729 c.1211G>A p.R404H Substitution - Missense 9:135933407-135933407 - Pat_63_B COSM5875832 c.962C>T p.A321V Substitution - Missense 9:135939674-135939674 - BD136T COSM5507548 c.139T>G p.C47G Substitution - Missense 9:135955415-135955415 - TCGA-AA-3672-01 COSM267706 c.877G>A p.A293T Substitution - Missense 9:135939759-135939759 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.9123;Hs.9187;Hs.9194 9q34.3 608129 2435333|CGAP|BC004967|A/G|non-coding||1554|Candidate; 2435333|CGAP|BC011822|A/G|non-coding||1380|Candidate; 2435335|CGAP|BC004967|G/T|non-coding||1564|Validated; 2435335|CGAP|BC011822|G/T|non-coding||1390|Validated; 1513076|dbSNP|BC004967|A/G|coding|Lys305Lys|1132|Candidate; 1513076|dbSNP|BC011822|A/G|coding|Lys305Lys|958|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.S296A c.886T>G 9 138831596 LUSC C A Missense p.K330N c.990G>T 9 138830180 LUAD C T Missense p.A255T c.763G>A 9 138836987 UCEC C T Missense p.E250K c.748G>A 9 138837002 LUAD C T Missense p.R329Q c.986G>A 9 138830184 LUSC C T Missense p.V157M c.469G>A 9 138838190 LUSC G A Missense p.P101S c.301C>T 9 138845558 CM G A Missense p.P354L c.1061C>T 9 138830109 THCA G A Missense p.S133F c.398C>T 9 138839687 CM G A Missense p.T388M c.1163C>T 9 138825301 HNSC G A Synonymous p.A349A c.1047C>T 9 138830123 CM G A Synonymous p.F278F c.834C>T 9 138836916 COREAD G A Synonymous p.I277I c.831C>T 9 138836919 COREAD G A Synonymous p.L152L c.456C>T 9 138838203 CM G A Synonymous p.P132P c.396C>T 9 138839689 CM G C Missense p.F148L c.444C>G 9 138838215 HNSC G C Missense p.N208K c.624C>G 9 138837764 PRAD G C Synonymous p.V88V c.264C>G 9 138845595 BRCA - G Frameshift p.P101Rfs*5 c.301_302insG 9 138845557 HC T C Missense p.D120G c.359A>G 9 138839726 SCLC