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 74970975 74970975 + Missense_Mutation SNP C C G TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 g.chr9:74970975C>G c.536G>C c.(535-537)cGt>cCt p.R179P BLCA 9 74971863 74971863 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 g.chr9:74971863C>A c.477G>T c.(475-477)aaG>aaT p.K159N BLCA 9 74971943 74971943 + Nonsense_Mutation SNP G G A TCGA-DK-AA6W-01A-12D-A391-08 TCGA-DK-AA6W-10A-01D-A394-08 g.chr9:74971943G>A c.397C>T c.(397-399)Cag>Tag p.Q133* CESC 9 74971875 74971875 + Missense_Mutation SNP G G T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 g.chr9:74971875G>T c.465C>A c.(463-465)ttC>ttA p.F155L COAD 9 74975592 74975592 + Nonsense_Mutation SNP T T A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr9:74975592T>A c.103A>T c.(103-105)Aaa>Taa p.K35* COADREAD 9 74975592 74975592 + Nonsense_Mutation SNP T T A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr9:74975592T>A c.103A>T c.(103-105)Aaa>Taa p.K35* ESCA 9 74975126 74975126 + Missense_Mutation SNP C C A TCGA-L5-A8NW-01A-11D-A37C-09 TCGA-L5-A8NW-11A-11D-A37F-09 g.chr9:74975126C>A c.163G>T c.(163-165)Ggt>Tgt p.G55C GBMLGG 9 74970965 74970965 + Silent SNP G G A TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 g.chr9:74970965G>A c.546C>T c.(544-546)gaC>gaT p.D182D HNSC 9 74975552 74975552 + Missense_Mutation SNP C C T TCGA-CR-5250-01A-01D-1512-08 TCGA-CR-5250-10A-01D-1512-08 g.chr9:74975552C>T c.143G>A c.(142-144)aGc>aAc p.S48N HNSC 9 74975561 74975561 + Missense_Mutation SNP C C T TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 g.chr9:74975561C>T c.134G>A c.(133-135)gGc>gAc p.G45D KIPAN 9 74971943 74971943 + Nonsense_Mutation SNP G G A TCGA-B0-5706-01A-11D-1534-10 TCGA-B0-5706-11A-01D-1534-10 g.chr9:74971943G>A c.397C>T c.(397-399)Cag>Tag p.Q133* KIPAN 9 74975669 74975669 + Missense_Mutation SNP G G T TCGA-2Z-A9JT-01A-11D-A42J-10 TCGA-2Z-A9JT-10A-01D-A42M-10 g.chr9:74975669G>T c.26C>A c.(25-27)cCg>cAg p.P9Q KIRC 9 74971943 74971943 + Nonsense_Mutation SNP G G A TCGA-B0-5706-01A-11D-1534-10 TCGA-B0-5706-11A-01D-1534-10 g.chr9:74971943G>A c.397C>T c.(397-399)Cag>Tag p.Q133* KIRP 9 74975669 74975669 + Missense_Mutation SNP G G T TCGA-2Z-A9JT-01A-11D-A42J-10 TCGA-2Z-A9JT-10A-01D-A42M-10 g.chr9:74975669G>T c.26C>A c.(25-27)cCg>cAg p.P9Q LGG 9 74970965 74970965 + Silent SNP G G A TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 g.chr9:74970965G>A c.546C>T c.(544-546)gaC>gaT p.D182D LIHC 9 74970914 74970914 + Silent SNP T T C TCGA-DD-A39V-01A-11D-A20W-10 TCGA-DD-A39V-11A-11D-A20W-10 g.chr9:74970914T>C c.597A>G c.(595-597)agA>agG p.R199R LIHC 9 74974352 74974352 + Frame_Shift_Del DEL T T - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr9:74974352delT c.349delA c.(349-351)acafs p.T117fs LUSC 9 74970881 74970881 + Silent SNP A A T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr9:74970881A>T c.630T>A c.(628-630)atT>atA p.I210I PAAD 9 74971957 74971957 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:74971957C>A c.383G>T c.(382-384)aGt>aTt p.S128I PAAD 9 74975027 74975027 + Splice_Site SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr9:74975027T>C c.262A>G c.(262-264)Aga>Gga p.R88G PRAD 9 74970894 74970894 + Missense_Mutation SNP A A C TCGA-EJ-5496-01A-01D-1576-08 TCGA-EJ-5496-10A-01D-1577-08 g.chr9:74970894A>C c.617T>G c.(616-618)gTg>gGg p.V206G SKCM 9 74971949 74971949 + Missense_Mutation SNP C C G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr9:74971949C>G c.391G>C c.(391-393)Gtt>Ctt p.V131L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 9 74970975 74970975 single base substitution C G downstream_gene_variant BLCA-US 9 74970975 74970975 single base substitution C G exon_variant BLCA-US 9 74970975 74970975 single base substitution C G missense_variant R179P 536G>C BRCA-EU 9 74962323 74962323 single base substitution G A downstream_gene_variant BRCA-EU 9 74963943 74963943 single base substitution G A downstream_gene_variant BRCA-EU 9 74964559 74964559 insertion of <=200bp - T downstream_gene_variant BRCA-EU 9 74964990 74964990 single base substitution G C downstream_gene_variant BRCA-EU 9 74967628 74967628 single base substitution T C 3_prime_UTR_variant BRCA-EU 9 74967628 74967628 single base substitution T C downstream_gene_variant BRCA-EU 9 74967642 74967642 single base substitution C T 3_prime_UTR_variant BRCA-EU 9 74967642 74967642 single base substitution C T downstream_gene_variant BRCA-EU 9 74967936 74967936 single base substitution G C 3_prime_UTR_variant BRCA-EU 9 74967936 74967936 single base substitution G C downstream_gene_variant BRCA-EU 9 74968220 74968220 single base substitution C T 3_prime_UTR_variant BRCA-EU 9 74968220 74968220 single base substitution C T downstream_gene_variant BRCA-EU 9 74970478 74970478 single base substitution A T 3_prime_UTR_variant BRCA-EU 9 74970478 74970478 single base substitution A T downstream_gene_variant BRCA-EU 9 74970478 74970478 single base substitution A T exon_variant BRCA-EU 9 74972541 74972561 deletion of <=200bp AAACATCATAGGAAGACTTGA - downstream_gene_variant BRCA-EU 9 74972541 74972561 deletion of <=200bp AAACATCATAGGAAGACTTGA - intron_variant BRCA-EU 9 74972798 74972798 insertion of <=200bp - A downstream_gene_variant BRCA-EU 9 74972798 74972798 insertion of <=200bp - A intron_variant BRCA-EU 9 74974716 74974716 single base substitution A G downstream_gene_variant BRCA-EU 9 74974716 74974716 single base substitution A G intron_variant BRCA-EU 9 74975669 74975669 single base substitution G T exon_variant BRCA-EU 9 74975669 74975669 single base substitution G T missense_variant P61Q 182C>A BRCA-EU 9 74975669 74975669 single base substitution G T missense_variant P9Q 26C>A BRCA-EU 9 74975669 74975669 single base substitution G T upstream_gene_variant BRCA-EU 9 74977849 74977849 single base substitution C T intron_variant BRCA-EU 9 74977849 74977849 single base substitution C T upstream_gene_variant BRCA-EU 9 74978640 74978640 single base substitution T C exon_variant BRCA-EU 9 74978640 74978640 single base substitution T C intron_variant BRCA-EU 9 74978640 74978640 single base substitution T C upstream_gene_variant BRCA-EU 9 74979184 74979184 single base substitution G A exon_variant BRCA-EU 9 74979184 74979184 single base substitution G A intron_variant BRCA-EU 9 74979184 74979184 single base substitution G A upstream_gene_variant BRCA-EU 9 74979224 74979224 single base substitution G A exon_variant BRCA-EU 9 74979224 74979224 single base substitution G A intron_variant BRCA-EU 9 74979224 74979224 single base substitution G A upstream_gene_variant BRCA-EU 9 74979664 74979664 single base substitution G A 5_prime_UTR_variant BRCA-EU 9 74979664 74979664 single base substitution G A exon_variant BRCA-EU 9 74979664 74979664 single base substitution G A upstream_gene_variant BRCA-EU 9 74980248 74980248 single base substitution G T upstream_gene_variant BRCA-EU 9 74980567 74980567 single base substitution G C upstream_gene_variant BRCA-EU 9 74981211 74981211 single base substitution C G upstream_gene_variant BRCA-EU 9 74981598 74981599 deletion of <=200bp AT - upstream_gene_variant BRCA-EU 9 74981887 74981887 single base substitution A T upstream_gene_variant BRCA-EU 9 74983554 74983554 single base substitution T G upstream_gene_variant BRCA-EU 9 74984093 74984093 single base substitution C T upstream_gene_variant BRCA-EU 9 74984210 74984211 deletion of <=200bp CA - upstream_gene_variant BRCA-EU 9 74984647 74984647 single base substitution A C upstream_gene_variant BRCA-FR 9 74963943 74963943 single base substitution G A downstream_gene_variant BRCA-FR 9 74967936 74967936 single base substitution G C 3_prime_UTR_variant BRCA-FR 9 74967936 74967936 single base substitution G C downstream_gene_variant BRCA-FR 9 74973215 74973215 single base substitution T A downstream_gene_variant BRCA-FR 9 74973215 74973215 single base substitution T A intron_variant BRCA-FR 9 74977162 74977162 single base substitution C A intron_variant BRCA-FR 9 74977162 74977162 single base substitution C A upstream_gene_variant BRCA-FR 9 74978640 74978640 single base substitution T C exon_variant BRCA-FR 9 74978640 74978640 single base substitution T C intron_variant BRCA-FR 9 74978640 74978640 single base substitution T C upstream_gene_variant BRCA-FR 9 74979184 74979184 single base substitution G A exon_variant BRCA-FR 9 74979184 74979184 single base substitution G A intron_variant BRCA-FR 9 74979184 74979184 single base substitution G A upstream_gene_variant BRCA-FR 9 74981211 74981211 single base substitution C G upstream_gene_variant BRCA-FR 9 74981887 74981887 single base substitution A T upstream_gene_variant BRCA-UK 9 74979693 74979693 single base substitution G A 5_prime_UTR_variant BRCA-UK 9 74979693 74979693 single base substitution G A exon_variant BRCA-UK 9 74979693 74979693 single base substitution G A upstream_gene_variant BRCA-UK 9 74982544 74982544 single base substitution C T upstream_gene_variant BTCA-JP 9 74975152 74975152 single base substitution G T downstream_gene_variant BTCA-JP 9 74975152 74975152 single base substitution G T exon_variant BTCA-JP 9 74975152 74975152 single base substitution G T intron_variant BTCA-JP 9 74975790 74975790 single base substitution G A intron_variant BTCA-JP 9 74975790 74975790 single base substitution G A upstream_gene_variant CESC-US 9 74969816 74969816 single base substitution G C 3_prime_UTR_variant CESC-US 9 74969816 74969816 single base substitution G C downstream_gene_variant CESC-US 9 74969816 74969816 single base substitution G C exon_variant CESC-US 9 74969854 74969854 single base substitution C A 3_prime_UTR_variant CESC-US 9 74969854 74969854 single base substitution C A downstream_gene_variant CESC-US 9 74969854 74969854 single base substitution C A exon_variant CESC-US 9 74970853 74970853 single base substitution C T 3_prime_UTR_variant CESC-US 9 74970853 74970853 single base substitution C T downstream_gene_variant CESC-US 9 74970853 74970853 single base substitution C T exon_variant CESC-US 9 74971875 74971875 single base substitution G T downstream_gene_variant CESC-US 9 74971875 74971875 single base substitution G T exon_variant CESC-US 9 74971875 74971875 single base substitution G T missense_variant F155L 465C>A CESC-US 9 74971875 74971875 single base substitution G T missense_variant F207L 621C>A CLLE-ES 9 74974228 74974228 single base substitution C T downstream_gene_variant CLLE-ES 9 74974228 74974228 single base substitution C T intron_variant CLLE-ES 9 74977357 74977357 single base substitution T C intron_variant CLLE-ES 9 74977357 74977357 single base substitution T C upstream_gene_variant CLLE-ES 9 74979445 74979446 deletion of <=200bp CG - 5_prime_UTR_variant CLLE-ES 9 74979445 74979446 deletion of <=200bp CG - frameshift_variant R27 CLLE-ES 9 74979445 74979446 deletion of <=200bp CG - intron_variant CLLE-ES 9 74979445 74979446 deletion of <=200bp CG - upstream_gene_variant COAD-US 9 74975592 74975592 single base substitution T A exon_variant COAD-US 9 74975592 74975592 single base substitution T A stop_gained K35* 103A>T COAD-US 9 74975592 74975592 single base substitution T A stop_gained K87* 259A>T COAD-US 9 74975592 74975592 single base substitution T A upstream_gene_variant COCA-CN 9 74968575 74968575 single base substitution A C 3_prime_UTR_variant COCA-CN 9 74968575 74968575 single base substitution A C downstream_gene_variant COCA-CN 9 74968578 74968578 single base substitution T A 3_prime_UTR_variant COCA-CN 9 74968578 74968578 single base substitution T A downstream_gene_variant COCA-CN 9 74971057 74971057 single base substitution G A downstream_gene_variant COCA-CN 9 74971057 74971057 single base substitution G A intron_variant COCA-CN 9 74974415 74974415 single base substitution G A downstream_gene_variant COCA-CN 9 74974415 74974415 single base substitution G A exon_variant COCA-CN 9 74974415 74974415 single base substitution G A missense_variant P148S 442C>T COCA-CN 9 74974415 74974415 single base substitution G A missense_variant P96S 286C>T COCA-CN 9 74974458 74974458 single base substitution A C downstream_gene_variant COCA-CN 9 74974458 74974458 single base substitution A C intron_variant COCA-CN 9 74974534 74974534 single base substitution C T downstream_gene_variant COCA-CN 9 74974534 74974534 single base substitution C T intron_variant ESAD-UK 9 74963794 74963794 single base substitution G A downstream_gene_variant ESAD-UK 9 74964161 74964161 single base substitution T C downstream_gene_variant ESAD-UK 9 74965737 74965737 single base substitution C T downstream_gene_variant ESAD-UK 9 74971529 74971529 single base substitution A G downstream_gene_variant ESAD-UK 9 74971529 74971529 single base substitution A G intron_variant ESAD-UK 9 74978101 74978103 deletion of <=200bp ATT - intron_variant ESAD-UK 9 74978101 74978103 deletion of <=200bp ATT - upstream_gene_variant ESAD-UK 9 74978893 74978893 single base substitution G A exon_variant ESAD-UK 9 74978893 74978893 single base substitution G A intron_variant ESAD-UK 9 74978893 74978893 single base substitution G A upstream_gene_variant ESAD-UK 9 74980807 74980807 single base substitution A T upstream_gene_variant ESAD-UK 9 74980927 74980927 single base substitution G C upstream_gene_variant ESAD-UK 9 74980988 74980988 single base substitution C T upstream_gene_variant ESAD-UK 9 74981315 74981315 insertion of <=200bp - T upstream_gene_variant ESAD-UK 9 74983322 74983322 single base substitution G C upstream_gene_variant KIRC-US 9 74971943 74971943 single base substitution G A downstream_gene_variant KIRC-US 9 74971943 74971943 single base substitution G A exon_variant KIRC-US 9 74971943 74971943 single base substitution G A stop_gained Q133* 397C>T KIRC-US 9 74971943 74971943 single base substitution G A stop_gained Q185* 553C>T LAML-KR 9 74979550 74979550 single base substitution A C 5_prime_UTR_variant LAML-KR 9 74979550 74979550 single base substitution A C intron_variant LAML-KR 9 74979550 74979550 single base substitution A C upstream_gene_variant LIHC-US 9 74970914 74970914 single base substitution T C downstream_gene_variant LIHC-US 9 74970914 74970914 single base substitution T C exon_variant LIHC-US 9 74970914 74970914 single base substitution T C synonymous_variant R199R 597A>G LINC-JP 9 74968285 74968285 insertion of <=200bp - A 3_prime_UTR_variant LINC-JP 9 74968285 74968285 insertion of <=200bp - A downstream_gene_variant LINC-JP 9 74970865 74970865 single base substitution T A 3_prime_UTR_variant LINC-JP 9 74970865 74970865 single base substitution T A downstream_gene_variant LINC-JP 9 74970865 74970865 single base substitution T A exon_variant LIRI-JP 9 74961394 74961394 single base substitution T C downstream_gene_variant LIRI-JP 9 74961558 74961558 single base substitution C T downstream_gene_variant LIRI-JP 9 74965580 74965580 single base substitution C A downstream_gene_variant LIRI-JP 9 74966359 74966359 deletion of <=200bp A - 3_prime_UTR_variant LIRI-JP 9 74966359 74966359 deletion of <=200bp A - downstream_gene_variant LIRI-JP 9 74966768 74966768 single base substitution G A 3_prime_UTR_variant LIRI-JP 9 74966768 74966768 single base substitution G A downstream_gene_variant LIRI-JP 9 74967272 74967272 single base substitution T C 3_prime_UTR_variant LIRI-JP 9 74967272 74967272 single base substitution T C downstream_gene_variant LIRI-JP 9 74968804 74968804 single base substitution G A 3_prime_UTR_variant LIRI-JP 9 74968804 74968804 single base substitution G A downstream_gene_variant LIRI-JP 9 74974918 74974918 single base substitution T C downstream_gene_variant LIRI-JP 9 74974918 74974918 single base substitution T C intron_variant LIRI-JP 9 74976915 74976915 single base substitution T C intron_variant LIRI-JP 9 74976915 74976915 single base substitution T C upstream_gene_variant LIRI-JP 9 74977781 74977781 single base substitution G T intron_variant LIRI-JP 9 74977781 74977781 single base substitution G T upstream_gene_variant LIRI-JP 9 74977874 74977874 single base substitution A C intron_variant LIRI-JP 9 74977874 74977874 single base substitution A C upstream_gene_variant LIRI-JP 9 74978090 74978090 single base substitution T C intron_variant LIRI-JP 9 74978090 74978090 single base substitution T C upstream_gene_variant LIRI-JP 9 74981651 74981651 single base substitution G A upstream_gene_variant LIRI-JP 9 74982936 74982936 single base substitution C T upstream_gene_variant LIRI-JP 9 74983135 74983135 single base substitution T C upstream_gene_variant LIRI-JP 9 74984516 74984516 single base substitution C G upstream_gene_variant LUSC-KR 9 74961918 74961918 single base substitution G C downstream_gene_variant LUSC-KR 9 74963458 74963458 single base substitution G A downstream_gene_variant LUSC-KR 9 74963460 74963460 single base substitution A T downstream_gene_variant LUSC-KR 9 74966384 74966384 single base substitution G A 3_prime_UTR_variant LUSC-KR 9 74966384 74966384 single base substitution G A downstream_gene_variant LUSC-KR 9 74967616 74967616 single base substitution T C 3_prime_UTR_variant LUSC-KR 9 74967616 74967616 single base substitution T C downstream_gene_variant LUSC-KR 9 74967637 74967637 single base substitution C T 3_prime_UTR_variant LUSC-KR 9 74967637 74967637 single base substitution C T downstream_gene_variant LUSC-KR 9 74969076 74969076 single base substitution G A 3_prime_UTR_variant LUSC-KR 9 74969076 74969076 single base substitution G A downstream_gene_variant LUSC-KR 9 74973206 74973206 single base substitution C A downstream_gene_variant LUSC-KR 9 74973206 74973206 single base substitution C A intron_variant LUSC-KR 9 74974534 74974534 single base substitution C T downstream_gene_variant LUSC-KR 9 74974534 74974534 single base substitution C T intron_variant LUSC-KR 9 74982342 74982342 single base substitution G A upstream_gene_variant LUSC-KR 9 74984648 74984648 single base substitution A C upstream_gene_variant LUSC-US 9 74970881 74970881 single base substitution A T downstream_gene_variant LUSC-US 9 74970881 74970881 single base substitution A T exon_variant LUSC-US 9 74970881 74970881 single base substitution A T synonymous_variant I210I 630T>A MALY-DE 9 74962906 74962906 single base substitution G A downstream_gene_variant MALY-DE 9 74965469 74965471 deletion of <=200bp TTC - downstream_gene_variant MALY-DE 9 74967668 74967668 single base substitution A C 3_prime_UTR_variant MALY-DE 9 74967668 74967668 single base substitution A C downstream_gene_variant MALY-DE 9 74980699 74980699 single base substitution G A upstream_gene_variant MELA-AU 9 74962191 74962191 single base substitution G A downstream_gene_variant MELA-AU 9 74962360 74962360 single base substitution A T downstream_gene_variant MELA-AU 9 74962377 74962377 single base substitution C T downstream_gene_variant MELA-AU 9 74963028 74963028 single base substitution C T downstream_gene_variant MELA-AU 9 74963821 74963821 single base substitution C A downstream_gene_variant MELA-AU 9 74965414 74965414 single base substitution G A downstream_gene_variant MELA-AU 9 74966207 74966207 single base substitution A G downstream_gene_variant MELA-AU 9 74967370 74967370 single base substitution G A 3_prime_UTR_variant MELA-AU 9 74967370 74967370 single base substitution G A downstream_gene_variant MELA-AU 9 74968315 74968315 single base substitution G A 3_prime_UTR_variant MELA-AU 9 74968315 74968315 single base substitution G A downstream_gene_variant MELA-AU 9 74969049 74969049 single base substitution G A 3_prime_UTR_variant MELA-AU 9 74969049 74969049 single base substitution G A downstream_gene_variant MELA-AU 9 74969279 74969279 single base substitution G A 3_prime_UTR_variant MELA-AU 9 74969279 74969279 single base substitution G A downstream_gene_variant MELA-AU 9 74971096 74971097 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 9 74971096 74971097 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 74973080 74973080 single base substitution C A downstream_gene_variant MELA-AU 9 74973080 74973080 single base substitution C A intron_variant MELA-AU 9 74973909 74973910 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 9 74973909 74973910 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 74974600 74974600 single base substitution G A downstream_gene_variant MELA-AU 9 74974600 74974600 single base substitution G A intron_variant MELA-AU 9 74975506 74975506 single base substitution A G exon_variant MELA-AU 9 74975506 74975506 single base substitution A G intron_variant MELA-AU 9 74975506 74975506 single base substitution A G upstream_gene_variant MELA-AU 9 74977869 74977869 single base substitution G A intron_variant MELA-AU 9 74977869 74977869 single base substitution G A upstream_gene_variant MELA-AU 9 74977904 74977904 single base substitution G A intron_variant MELA-AU 9 74977904 74977904 single base substitution G A upstream_gene_variant MELA-AU 9 74978637 74978637 single base substitution G A exon_variant MELA-AU 9 74978637 74978637 single base substitution G A intron_variant MELA-AU 9 74978637 74978637 single base substitution G A upstream_gene_variant MELA-AU 9 74978696 74978696 single base substitution T C exon_variant MELA-AU 9 74978696 74978696 single base substitution T C intron_variant MELA-AU 9 74978696 74978696 single base substitution T C upstream_gene_variant MELA-AU 9 74978839 74978839 single base substitution A G exon_variant MELA-AU 9 74978839 74978839 single base substitution A G intron_variant MELA-AU 9 74978839 74978839 single base substitution A G upstream_gene_variant MELA-AU 9 74978888 74978888 single base substitution C T exon_variant MELA-AU 9 74978888 74978888 single base substitution C T intron_variant MELA-AU 9 74978888 74978888 single base substitution C T upstream_gene_variant MELA-AU 9 74979025 74979025 single base substitution G A exon_variant MELA-AU 9 74979025 74979025 single base substitution G A intron_variant MELA-AU 9 74979025 74979025 single base substitution G A upstream_gene_variant MELA-AU 9 74979040 74979041 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 9 74979040 74979041 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 74979040 74979041 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 9 74980257 74980257 single base substitution C T upstream_gene_variant MELA-AU 9 74981377 74981377 single base substitution C T upstream_gene_variant MELA-AU 9 74982032 74982032 single base substitution G A upstream_gene_variant MELA-AU 9 74982052 74982052 single base substitution C T upstream_gene_variant MELA-AU 9 74982102 74982102 single base substitution A G upstream_gene_variant MELA-AU 9 74982108 74982108 single base substitution G A upstream_gene_variant MELA-AU 9 74983125 74983125 single base substitution G A upstream_gene_variant MELA-AU 9 74983147 74983147 single base substitution G A upstream_gene_variant MELA-AU 9 74983346 74983346 single base substitution T A upstream_gene_variant MELA-AU 9 74983581 74983581 single base substitution G A upstream_gene_variant MELA-AU 9 74983670 74983670 single base substitution A T upstream_gene_variant MELA-AU 9 74984047 74984047 single base substitution G A upstream_gene_variant MELA-AU 9 74984462 74984462 single base substitution G A upstream_gene_variant MELA-AU 9 74984654 74984654 single base substitution A T upstream_gene_variant MELA-AU 9 74984745 74984745 single base substitution A G upstream_gene_variant ORCA-IN 9 74967040 74967040 single base substitution C G 3_prime_UTR_variant ORCA-IN 9 74967040 74967040 single base substitution C G downstream_gene_variant ORCA-IN 9 74984754 74984754 single base substitution G C upstream_gene_variant OV-AU 9 74974894 74974894 single base substitution G C downstream_gene_variant OV-AU 9 74974894 74974894 single base substitution G C intron_variant PACA-AU 9 74967208 74967208 single base substitution G A 3_prime_UTR_variant PACA-AU 9 74967208 74967208 single base substitution G A downstream_gene_variant PACA-AU 9 74967645 74967645 insertion of <=200bp - A 3_prime_UTR_variant PACA-AU 9 74967645 74967645 insertion of <=200bp - A downstream_gene_variant PACA-AU 9 74977759 74977759 single base substitution G A intron_variant PACA-AU 9 74977759 74977759 single base substitution G A upstream_gene_variant PACA-AU 9 74980083 74980086 deletion of <=200bp CGCG - 5_prime_UTR_variant PACA-AU 9 74980083 74980086 deletion of <=200bp CGCG - upstream_gene_variant PACA-AU 9 74982301 74982301 single base substitution G C upstream_gene_variant PACA-AU 9 74984985 74984985 single base substitution G A upstream_gene_variant PACA-AU 9 74985038 74985038 single base substitution T C upstream_gene_variant PACA-AU 9 74985039 74985039 single base substitution G T upstream_gene_variant PACA-CA 9 74964245 74964245 single base substitution A G downstream_gene_variant PACA-CA 9 74968362 74968362 single base substitution C T 3_prime_UTR_variant PACA-CA 9 74968362 74968362 single base substitution C T downstream_gene_variant PACA-CA 9 74968976 74968976 single base substitution A T 3_prime_UTR_variant PACA-CA 9 74968976 74968976 single base substitution A T downstream_gene_variant PACA-CA 9 74971004 74971004 single base substitution T A downstream_gene_variant PACA-CA 9 74971004 74971004 single base substitution T A exon_variant PACA-CA 9 74971004 74971004 single base substitution T A synonymous_variant R169R 507A>T PACA-CA 9 74978359 74978359 single base substitution G A intron_variant PACA-CA 9 74978359 74978359 single base substitution G A upstream_gene_variant PAEN-AU 9 74974467 74974467 single base substitution A G downstream_gene_variant PAEN-AU 9 74974467 74974467 single base substitution A G intron_variant PBCA-DE 9 74962061 74962061 single base substitution T A downstream_gene_variant PBCA-DE 9 74968578 74968578 single base substitution T A 3_prime_UTR_variant PBCA-DE 9 74968578 74968578 single base substitution T A downstream_gene_variant PBCA-DE 9 74977110 74977110 single base substitution T C intron_variant PBCA-DE 9 74977110 74977110 single base substitution T C upstream_gene_variant PBCA-DE 9 74985065 74985065 single base substitution G C upstream_gene_variant PRAD-UK 9 74976192 74976192 single base substitution G A intron_variant PRAD-UK 9 74976192 74976192 single base substitution G A upstream_gene_variant PRAD-UK 9 74982628 74982628 single base substitution G A upstream_gene_variant PRAD-US 9 74970894 74970894 single base substitution A C downstream_gene_variant PRAD-US 9 74970894 74970894 single base substitution A C exon_variant PRAD-US 9 74970894 74970894 single base substitution A C missense_variant V206G 617T>G READ-US 9 74974368 74974368 single base substitution T G downstream_gene_variant READ-US 9 74974368 74974368 single base substitution T G exon_variant READ-US 9 74974368 74974368 single base substitution T G missense_variant K111N 333A>C READ-US 9 74974368 74974368 single base substitution T G missense_variant K163N 489A>C RECA-EU 9 74961791 74961791 single base substitution A T downstream_gene_variant RECA-EU 9 74963523 74963523 single base substitution C A downstream_gene_variant RECA-EU 9 74971277 74971277 single base substitution C T downstream_gene_variant RECA-EU 9 74971277 74971277 single base substitution C T intron_variant SKCA-BR 9 74962578 74962578 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 9 74963648 74963648 single base substitution A T downstream_gene_variant SKCA-BR 9 74966503 74966503 insertion of <=200bp - GTACTT 3_prime_UTR_variant SKCA-BR 9 74966503 74966503 insertion of <=200bp - GTACTT downstream_gene_variant SKCA-BR 9 74966506 74966506 insertion of <=200bp - CTTTACT 3_prime_UTR_variant SKCA-BR 9 74966506 74966506 insertion of <=200bp - CTTTACT downstream_gene_variant SKCA-BR 9 74968578 74968578 single base substitution T A 3_prime_UTR_variant SKCA-BR 9 74968578 74968578 single base substitution T A downstream_gene_variant SKCA-BR 9 74968845 74968845 single base substitution G T 3_prime_UTR_variant SKCA-BR 9 74968845 74968845 single base substitution G T downstream_gene_variant SKCA-BR 9 74978079 74978079 single base substitution G A intron_variant SKCA-BR 9 74978079 74978079 single base substitution G A upstream_gene_variant SKCA-BR 9 74985161 74985161 single base substitution C T upstream_gene_variant SKCM-US 9 74971949 74971949 single base substitution C G downstream_gene_variant SKCM-US 9 74971949 74971949 single base substitution C G exon_variant SKCM-US 9 74971949 74971949 single base substitution C G missense_variant V131L 391G>C SKCM-US 9 74971949 74971949 single base substitution C G missense_variant V183L 547G>C STAD-US 9 74975132 74975132 single base substitution C T downstream_gene_variant STAD-US 9 74975132 74975132 single base substitution C T exon_variant STAD-US 9 74975132 74975132 single base substitution C T missense_variant A105T 313G>A STAD-US 9 74975132 74975132 single base substitution C T missense_variant A53T 157G>A THCA-SA 9 74969864 74969864 single base substitution T C 3_prime_UTR_variant THCA-SA 9 74969864 74969864 single base substitution T C downstream_gene_variant THCA-SA 9 74969864 74969864 single base substitution T C exon_variant THCA-SA 9 74979966 74979966 single base substitution G A 5_prime_UTR_variant THCA-SA 9 74979966 74979966 single base substitution G A upstream_gene_variant THCA-US 9 74971943 74971943 single base substitution G A downstream_gene_variant THCA-US 9 74971943 74971943 single base substitution G A exon_variant THCA-US 9 74971943 74971943 single base substitution G A stop_gained Q133* 397C>T THCA-US 9 74971943 74971943 single base substitution G A stop_gained Q185* 553C>T UCEC-US 9 74971872 74971872 single base substitution C T downstream_gene_variant UCEC-US 9 74971872 74971872 single base substitution C T exon_variant UCEC-US 9 74971872 74971872 single base substitution C T missense_variant M156I 468G>A UCEC-US 9 74971872 74971872 single base substitution C T missense_variant M208I 624G>A UCEC-US 9 74971925 74971939 deletion of <=200bp TCTGAGAAGTACTGG - disruptive_inframe_deletion PSTSQS134R UCEC-US 9 74971925 74971939 deletion of <=200bp TCTGAGAAGTACTGG - disruptive_inframe_deletion PSTSQS186R UCEC-US 9 74971925 74971939 deletion of <=200bp TCTGAGAAGTACTGG - downstream_gene_variant UCEC-US 9 74971925 74971939 deletion of <=200bp TCTGAGAAGTACTGG - exon_variant UCEC-US 9 74974438 74974438 single base substitution C A downstream_gene_variant UCEC-US 9 74974438 74974438 single base substitution C A splice_acceptor_variant UCEC-US 9 74975575 74975575 single base substitution C A exon_variant UCEC-US 9 74975575 74975575 single base substitution C A missense_variant R40S 120G>T UCEC-US 9 74975575 74975575 single base substitution C A missense_variant R92S 276G>T UCEC-US 9 74975575 74975575 single base substitution C A upstream_gene_variant UCEC-US 9 74975616 74975616 single base substitution T G exon_variant UCEC-US 9 74975616 74975616 single base substitution T G missense_variant N27H 79A>C UCEC-US 9 74975616 74975616 single base substitution T G missense_variant N79H 235A>C UCEC-US 9 74975616 74975616 single base substitution T G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-A4QL-01 COSM3907913 c.157G>A p.A53T Substitution - Missense 9:72360216-72360216 - PD11752a COSM5783170 c.26C>A p.P9Q Substitution - Missense 9:72360753-72360753 - SC_9027 COSM5552849 c.433G>A p.E145K Substitution - Missense 9:72356991-72356991 - CRC-02T COSM5455792 c.286C>T p.P96S Substitution - Missense 9:72359499-72359499 - PTC-28C COSM4164011 c.153A>G p.G51G Substitution - coding silent 9:72360220-72360220 - TCGA-F5-6814-01 COSM3433225 c.333A>C p.K111N Substitution - Missense 9:72359452-72359452 - pfg122T COSM4757598 c.197T>C p.V66A Substitution - Missense 9:72360176-72360176 - 19 COSM5747005 c.506G>A p.R169Q Substitution - Missense 9:72356089-72356089 - TCGA-EJ-5496-01 COSM1132458 c.617T>G p.V206G Substitution - Missense 9:72355978-72355978 - TCGA-FD-A3SL-01 COSM3780075 c.536G>C p.R179P Substitution - Missense 9:72356059-72356059 - TCGA-AP-A051-01 COSM1109971 c.468G>A p.M156I Substitution - Missense 9:72356956-72356956 - 631064 COSM326917 c.164G>T p.G55V Substitution - Missense 9:72360209-72360209 - TCGA-CA-6717-01 COSM1462912 c.103A>T p.K35* Substitution - Nonsense 9:72360676-72360676 - 3N52-VS-3T52 COSM4983521 c.295C>G p.Q99E Substitution - Missense 9:72359490-72359490 - 2492721 COSM5721312 c.339T>C p.T113T Substitution - coding silent 9:72359446-72359446 - TCGA-B5-A0JY-01 COSM1109974 c.120G>T p.R40S Substitution - Missense 9:72360659-72360659 - TCGA-DD-A39V-01 COSM4912546 c.597A>G p.R199R Substitution - coding silent 9:72355998-72355998 - TCGA-B0-5706-01 COSM487547 c.397C>T p.Q133* Substitution - Nonsense 9:72357027-72357027 - 2492722 COSM5721312 c.339T>C p.T113T Substitution - coding silent 9:72359446-72359446 - 2492720 COSM5721312 c.339T>C p.T113T Substitution - coding silent 9:72359446-72359446 - TCGA-33-4566-01 COSM754267 c.630T>A p.I210I Substitution - coding silent 9:72355965-72355965 - TCGA-CJ-5676-01 COSM487546 c.399G>A p.Q133Q Substitution - coding silent 9:72357025-72357025 - TCGA-EE-A3JI-06 COSM3658008 c.391G>C p.V131L Substitution - Missense 9:72357033-72357033 - TCGA-D1-A103-01 COSM1109975 c.79A>C p.N27H Substitution - Missense 9:72360700-72360700 - 3844_T COSM4139500 c.208G>A p.D70N Substitution - Missense 9:72360165-72360165 - TCGA-DE-A0Y2-01 COSM487547 c.397C>T p.Q133* Substitution - Nonsense 9:72357027-72357027 - Gp2D COSM2780084 c.628delA p.I210fs*>4 Deletion - Frameshift 9:72355967-72355967 - 2492723 COSM5721312 c.339T>C p.T113T Substitution - coding silent 9:72359446-72359446 - TCGA-BS-A0UF-01 COSM1109973 c.264-1G>T p.? Unknown 9:72359522-72359522 - LUAD-NYU1219 COSM370298 c.56G>T p.G19V Substitution - Missense 9:72360723-72360723 - TCGA-C5-A1M6-01 COSM4826696 c.465C>A p.F155L Substitution - Missense 9:72356959-72356959 - 1862876 COSM1180613 c.50G>C p.G17A Substitution - Missense 9:72360729-72360729 - TCGA-AP-A0L8-01 COSM1109972 c.401_415del15 p.P134_S139>R Complex - deletion inframe 9:72357009-72357023 - TCGA-DR-A0ZM-01 COSM462382 c.77C>G p.T26R Substitution - Missense 9:72360702-72360702 - Gp5D COSM2780084 c.628delA p.I210fs*>4 Deletion - Frameshift 9:72355967-72355967 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.406094;Hs.406096 9q13-q21 602583;604761 2400341|CGAP|BC073131|A/C|non-coding||1990|Candidate; 2400348|CGAP|BC073131|A/G|non-coding||1708|Validated; 1510769|dbSNP|BC073131|A/C|non-coding||1990|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - 3-UTRDeletion . c.639+4514delG 9 74966358 HC A C Missense p.V206G c.617T>G 9 74970894 PRAD C A Missense p.G55V c.164G>T 9 74975125 SCLC C G Missense p.V131L c.391G>C 9 74971949 CM C T Missense p.S48N c.143G>A 9 74975552 HNSC G A Nonsense p.Q133* c.397C>T 9 74971943 RCCC G A Nonsense p.Q133* c.397C>T 9 74971943 THCA G A Synonymous p.D182D c.546C>T 9 74970965 LGG T C 3-UTRSNV . c.639+57A>G 9 74970815 BRCA T C IntronicSNV . c.493+93A>G 9 74971754 CM TCTGAGAAGTACTGG - MultiAAMissense p.P134_S139delinsR c.401_415delCCAGTACTTCTCAGA 9 74971925 UCEC T G Missense p.K86Q c.256A>C 9 74975033 THCA