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 20 33137790 33137790 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 g.chr20:33137790G>A c.9G>A c.(7-9)atG>atA p.M3I BLCA 20 33147544 33147544 + Missense_Mutation SNP C C T TCGA-E7-A5KE-01A-11D-A289-08 TCGA-E7-A5KE-10A-01D-A289-08 g.chr20:33147544C>T c.208C>T c.(208-210)Cgc>Tgc p.R70C BLCA 20 33147544 33147544 + Missense_Mutation SNP C C T TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chr20:33147544C>T c.208C>T c.(208-210)Cgc>Tgc p.R70C BLCA 20 33147573 33147573 + Silent SNP C C T TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 g.chr20:33147573C>T c.237C>T c.(235-237)ttC>ttT p.F79F BLCA 20 33147580 33147580 + Missense_Mutation SNP C C A TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr20:33147580C>A c.244C>A c.(244-246)Ctg>Atg p.L82M BLCA 20 33147630 33147630 + Missense_Mutation SNP C C G TCGA-UY-A9PE-01A-11D-A38G-08 TCGA-UY-A9PE-10A-01D-A38J-08 g.chr20:33147630C>G c.294C>G c.(292-294)atC>atG p.I98M BLCA 20 33147693 33147693 + Silent SNP C C T TCGA-XF-AAML-01A-11D-A42E-08 TCGA-XF-AAML-10A-01D-A42H-08 g.chr20:33147693C>T c.357C>T c.(355-357)ttC>ttT p.F119F CESC 20 33147542 33147542 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr20:33147542G>A c.206G>A c.(205-207)cGc>cAc p.R69H CESC 20 33147555 33147555 + Silent SNP G G C TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 g.chr20:33147555G>C c.219G>C c.(217-219)ctG>ctC p.L73L COAD 20 33147160 33147160 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr20:33147160G>A c.106G>A c.(106-108)Gag>Aag p.E36K COAD 20 33147563 33147563 + Missense_Mutation SNP C C T TCGA-CK-4947-01B-11D-1650-10 TCGA-CK-4947-10A-01D-1650-10 g.chr20:33147563C>T c.227C>T c.(226-228)aCg>aTg p.T76M COAD 20 33147623 33147623 + Missense_Mutation SNP C C T TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr20:33147623C>T c.287C>T c.(286-288)gCg>gTg p.A96V COAD 20 33147624 33147624 + Silent SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr20:33147624G>A c.288G>A c.(286-288)gcG>gcA p.A96A COADREAD 20 33147160 33147160 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr20:33147160G>A c.106G>A c.(106-108)Gag>Aag p.E36K COADREAD 20 33147563 33147563 + Missense_Mutation SNP C C T TCGA-CK-4947-01B-11D-1650-10 TCGA-CK-4947-10A-01D-1650-10 g.chr20:33147563C>T c.227C>T c.(226-228)aCg>aTg p.T76M COADREAD 20 33147623 33147623 + Missense_Mutation SNP C C T TCGA-CK-5914-01A-11D-1650-10 TCGA-CK-5914-10A-01D-1650-10 g.chr20:33147623C>T c.287C>T c.(286-288)gCg>gTg p.A96V COADREAD 20 33147624 33147624 + Silent SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr20:33147624G>A c.288G>A c.(286-288)gcG>gcA p.A96A ESCA 20 33147159 33147159 + Silent SNP C C T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 g.chr20:33147159C>T c.105C>T c.(103-105)atC>atT p.I35I GBMLGG 20 33147655 33147655 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr20:33147655G>A c.319G>A c.(319-321)Ggc>Agc p.G107S GBMLGG 20 33147675 33147675 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr20:33147675C>T c.339C>T c.(337-339)taC>taT p.Y113Y HNSC 20 33147238 33147238 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 g.chr20:33147238G>A c.184G>A c.(184-186)Gag>Aag p.E62K KICH 20 33147203 33147203 + Missense_Mutation SNP C C T TCGA-KO-8405-01A-11D-2310-10 TCGA-KO-8405-11A-01D-2311-10 g.chr20:33147203C>T c.149C>T c.(148-150)aCc>aTc p.T50I KICH 20 33147658 33147658 + Missense_Mutation SNP T T C TCGA-KL-8327-01A-11D-2310-10 TCGA-KL-8327-11A-01D-2310-10 g.chr20:33147658T>C c.322T>C c.(322-324)Ttc>Ctc p.F108L KIPAN 20 33147203 33147203 + Missense_Mutation SNP C C T TCGA-KO-8405-01A-11D-2310-10 TCGA-KO-8405-11A-01D-2311-10 g.chr20:33147203C>T c.149C>T c.(148-150)aCc>aTc p.T50I KIPAN 20 33147238 33147238 + Nonsense_Mutation SNP G G T TCGA-B0-4823-01A-02D-1421-08 TCGA-B0-4823-11A-01D-1421-08 g.chr20:33147238G>T c.184G>T c.(184-186)Gag>Tag p.E62* KIPAN 20 33147658 33147658 + Missense_Mutation SNP T T C TCGA-KL-8327-01A-11D-2310-10 TCGA-KL-8327-11A-01D-2310-10 g.chr20:33147658T>C c.322T>C c.(322-324)Ttc>Ctc p.F108L KIRC 20 33147238 33147238 + Nonsense_Mutation SNP G G T TCGA-B0-4823-01A-02D-1421-08 TCGA-B0-4823-11A-01D-1421-08 g.chr20:33147238G>T c.184G>T c.(184-186)Gag>Tag p.E62* LGG 20 33147655 33147655 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr20:33147655G>A c.319G>A c.(319-321)Ggc>Agc p.G107S LGG 20 33147675 33147675 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr20:33147675C>T c.339C>T c.(337-339)taC>taT p.Y113Y LIHC 20 33147194 33147194 + Missense_Mutation SNP T T A TCGA-DD-AACI-01A-11D-A40R-10 TCGA-DD-AACI-10A-01D-A40U-10 g.chr20:33147194T>A c.140T>A c.(139-141)cTg>cAg p.L47Q LUAD 20 33147220 33147220 + Missense_Mutation SNP G G C TCGA-44-A47F-01A-11D-A24D-08 TCGA-44-A47F-10A-01D-A24F-08 g.chr20:33147220G>C c.166G>C c.(166-168)Gac>Cac p.D56H LUAD 20 33147533 33147556 + Splice_Site DEL GCTGCAGGCGCCGCCTGCAGCTGA GCTGCAGGCGCCGCCTGCAGCTGA - TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr20:33147533_33147556delGCTGCAGGCGCCGCCTGCAGCTGA c.203_220delGCTGCAGGCGCCGCCTGCAGCTGA c.(202-222)cgctgcaggcgccgcctgcag>cag p.RCRRRL68del PAAD 20 33147545 33147545 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:33147545G>A c.209G>A c.(208-210)cGc>cAc p.R70H SKCM 20 33137834 33137834 + Splice_Site SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr20:33137834G>A c.e2+1 SKCM 20 33147581 33147581 + Missense_Mutation SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr20:33147581T>C c.245T>C c.(244-246)cTg>cCg p.L82P

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 20 33147538 33147538 single base substitution A G splice_acceptor_variant BLCA-CN 20 33147737 33147737 single base substitution C G 3_prime_UTR_variant BLCA-CN 20 33147737 33147737 single base substitution C G exon_variant BLCA-CN 20 33147737 33147737 single base substitution C G intron_variant BLCA-US 20 33147573 33147573 single base substitution C T exon_variant BLCA-US 20 33147573 33147573 single base substitution C T synonymous_variant F79F 237C>T BLCA-US 20 33147573 33147573 single base substitution C T synonymous_variant F83F 249C>T BLCA-US 20 33147580 33147580 single base substitution C A exon_variant BLCA-US 20 33147580 33147580 single base substitution C A missense_variant L82M 244C>A BLCA-US 20 33147580 33147580 single base substitution C A missense_variant L86M 256C>A BRCA-EU 20 33130125 33130125 single base substitution G C upstream_gene_variant BRCA-EU 20 33132484 33132484 single base substitution C T upstream_gene_variant BRCA-EU 20 33133349 33133349 single base substitution T A upstream_gene_variant BRCA-EU 20 33133385 33133385 single base substitution C T upstream_gene_variant BRCA-EU 20 33134448 33134448 single base substitution C T upstream_gene_variant BRCA-EU 20 33134527 33134527 single base substitution G T upstream_gene_variant BRCA-EU 20 33135141 33135141 single base substitution G T intron_variant BRCA-EU 20 33135454 33135454 single base substitution T C intron_variant BRCA-EU 20 33135937 33135937 single base substitution G T intron_variant BRCA-EU 20 33137605 33137605 single base substitution G C intron_variant BRCA-EU 20 33138394 33138394 single base substitution C A intron_variant BRCA-EU 20 33138414 33138414 single base substitution C T intron_variant BRCA-EU 20 33138689 33138689 single base substitution G C intron_variant BRCA-EU 20 33139658 33139661 deletion of <=200bp TTGT - intron_variant BRCA-EU 20 33140118 33140118 single base substitution G A intron_variant BRCA-EU 20 33140250 33140250 single base substitution A C intron_variant BRCA-EU 20 33140547 33140547 single base substitution G A intron_variant BRCA-EU 20 33140773 33140773 single base substitution G A intron_variant BRCA-EU 20 33141940 33141940 single base substitution G C intron_variant BRCA-EU 20 33141940 33141940 single base substitution G C upstream_gene_variant BRCA-EU 20 33142922 33142922 single base substitution G A intron_variant BRCA-EU 20 33142922 33142922 single base substitution G A upstream_gene_variant BRCA-EU 20 33144120 33144120 single base substitution T G intron_variant BRCA-EU 20 33144120 33144120 single base substitution T G upstream_gene_variant BRCA-EU 20 33144885 33144885 single base substitution A G intron_variant BRCA-EU 20 33144885 33144885 single base substitution A G upstream_gene_variant BRCA-EU 20 33146182 33146182 single base substitution C T 5_prime_UTR_variant BRCA-EU 20 33146182 33146182 single base substitution C T intron_variant BRCA-EU 20 33146182 33146182 single base substitution C T upstream_gene_variant BRCA-EU 20 33148250 33148250 single base substitution G A downstream_gene_variant BRCA-EU 20 33151115 33151115 single base substitution T C downstream_gene_variant BRCA-EU 20 33151838 33151838 single base substitution G A downstream_gene_variant BRCA-FR 20 33132484 33132484 single base substitution C T upstream_gene_variant BRCA-FR 20 33140547 33140547 single base substitution G A intron_variant BRCA-FR 20 33140709 33140709 single base substitution G A intron_variant BRCA-FR 20 33145323 33145323 single base substitution T G intron_variant BRCA-FR 20 33145323 33145323 single base substitution T G upstream_gene_variant BRCA-UK 20 33130125 33130125 single base substitution G C upstream_gene_variant BRCA-UK 20 33140773 33140773 single base substitution G A intron_variant BTCA-JP 20 33146586 33146586 single base substitution G A 5_prime_UTR_variant BTCA-JP 20 33146586 33146586 single base substitution G A exon_variant BTCA-JP 20 33146586 33146586 single base substitution G A intron_variant CESC-US 20 33147542 33147542 single base substitution G A missense_variant R69H 206G>A CESC-US 20 33147542 33147542 single base substitution G A missense_variant R73H 218G>A CESC-US 20 33147542 33147542 single base substitution G A splice_region_variant CESC-US 20 33147555 33147555 single base substitution G C exon_variant CESC-US 20 33147555 33147555 single base substitution G C synonymous_variant L73L 219G>C CESC-US 20 33147555 33147555 single base substitution G C synonymous_variant L77L 231G>C CESC-US 20 33147998 33147998 single base substitution G A 3_prime_UTR_variant CESC-US 20 33147998 33147998 single base substitution G A exon_variant CLLE-ES 20 33147733 33147733 single base substitution C T 3_prime_UTR_variant CLLE-ES 20 33147733 33147733 single base substitution C T exon_variant CLLE-ES 20 33147733 33147733 single base substitution C T intron_variant CLLE-ES 20 33147985 33147985 single base substitution T C 3_prime_UTR_variant CLLE-ES 20 33147985 33147985 single base substitution T C exon_variant COAD-US 20 33147013 33147013 single base substitution C T intron_variant COAD-US 20 33147013 33147013 single base substitution C T splice_region_variant COAD-US 20 33147160 33147160 single base substitution G A exon_variant COAD-US 20 33147160 33147160 single base substitution G A missense_variant E36K 106G>A COAD-US 20 33147160 33147160 single base substitution G A missense_variant E40K 118G>A COAD-US 20 33147563 33147563 single base substitution C T exon_variant COAD-US 20 33147563 33147563 single base substitution C T missense_variant T76M 227C>T COAD-US 20 33147563 33147563 single base substitution C T missense_variant T80M 239C>T COAD-US 20 33147623 33147623 single base substitution C T exon_variant COAD-US 20 33147623 33147623 single base substitution C T missense_variant A100V 299C>T COAD-US 20 33147623 33147623 single base substitution C T missense_variant A96V 287C>T COCA-CN 20 33137752 33137752 single base substitution G C 5_prime_UTR_variant COCA-CN 20 33146590 33146590 single base substitution C T 5_prime_UTR_variant COCA-CN 20 33146590 33146590 single base substitution C T exon_variant COCA-CN 20 33146590 33146590 single base substitution C T intron_variant COCA-CN 20 33150471 33150471 single base substitution C T downstream_gene_variant ESAD-UK 20 33130622 33130622 single base substitution G T upstream_gene_variant ESAD-UK 20 33133946 33133946 single base substitution C T upstream_gene_variant ESAD-UK 20 33135549 33135549 single base substitution C T intron_variant ESAD-UK 20 33137896 33137896 single base substitution C T intron_variant ESAD-UK 20 33138088 33138088 single base substitution C T intron_variant ESAD-UK 20 33138189 33138189 single base substitution C T intron_variant ESAD-UK 20 33139169 33139169 single base substitution G T intron_variant ESAD-UK 20 33142892 33142892 single base substitution G A intron_variant ESAD-UK 20 33142892 33142892 single base substitution G A upstream_gene_variant ESAD-UK 20 33144340 33144340 single base substitution T G intron_variant ESAD-UK 20 33144340 33144340 single base substitution T G upstream_gene_variant ESAD-UK 20 33144989 33144989 single base substitution G A intron_variant ESAD-UK 20 33144989 33144989 single base substitution G A upstream_gene_variant ESAD-UK 20 33149794 33149794 single base substitution G T downstream_gene_variant ESAD-UK 20 33150478 33150478 single base substitution C T downstream_gene_variant ESAD-UK 20 33150942 33150942 single base substitution C T downstream_gene_variant KIRC-US 20 33147238 33147238 single base substitution G T exon_variant KIRC-US 20 33147238 33147238 single base substitution G T stop_gained E62* 184G>T KIRC-US 20 33147238 33147238 single base substitution G T stop_gained E66* 196G>T LINC-JP 20 33146761 33146761 single base substitution G A intron_variant LINC-JP 20 33147127 33147127 single base substitution C A intron_variant LINC-JP 20 33147742 33147742 single base substitution C A 3_prime_UTR_variant LINC-JP 20 33147742 33147742 single base substitution C A exon_variant LINC-JP 20 33147742 33147742 single base substitution C A intron_variant LIRI-JP 20 33129921 33129921 insertion of <=200bp - G upstream_gene_variant LIRI-JP 20 33131009 33131009 single base substitution A G upstream_gene_variant LIRI-JP 20 33131820 33131820 single base substitution T C upstream_gene_variant LIRI-JP 20 33132408 33132408 single base substitution C T upstream_gene_variant LIRI-JP 20 33133315 33133315 single base substitution A C upstream_gene_variant LIRI-JP 20 33136297 33136299 deletion of <=200bp GAG - intron_variant LIRI-JP 20 33141385 33141385 single base substitution A G intron_variant LIRI-JP 20 33141385 33141385 single base substitution A G upstream_gene_variant LIRI-JP 20 33144487 33144487 single base substitution G C intron_variant LIRI-JP 20 33144487 33144487 single base substitution G C upstream_gene_variant LIRI-JP 20 33148984 33148984 single base substitution T G downstream_gene_variant LUSC-KR 20 33130847 33130847 single base substitution G T upstream_gene_variant LUSC-KR 20 33140223 33140223 single base substitution C A intron_variant LUSC-KR 20 33144267 33144267 single base substitution T G intron_variant LUSC-KR 20 33144267 33144267 single base substitution T G upstream_gene_variant LUSC-KR 20 33144486 33144486 single base substitution C T intron_variant LUSC-KR 20 33144486 33144486 single base substitution C T upstream_gene_variant LUSC-KR 20 33146296 33146296 single base substitution C G 5_prime_UTR_variant LUSC-KR 20 33146296 33146296 single base substitution C G intron_variant LUSC-KR 20 33146296 33146296 single base substitution C G upstream_gene_variant LUSC-KR 20 33149767 33149767 single base substitution C A downstream_gene_variant LUSC-KR 20 33152025 33152025 single base substitution G A downstream_gene_variant MALY-DE 20 33134455 33134455 single base substitution T G upstream_gene_variant MALY-DE 20 33151335 33151335 single base substitution A G downstream_gene_variant MELA-AU 20 33129776 33129776 single base substitution C T upstream_gene_variant MELA-AU 20 33129984 33129984 single base substitution C T upstream_gene_variant MELA-AU 20 33130160 33130160 single base substitution C T upstream_gene_variant MELA-AU 20 33130282 33130282 single base substitution G A upstream_gene_variant MELA-AU 20 33130718 33130732 deletion of <=200bp TTTTTTGTTTTTTTT - upstream_gene_variant MELA-AU 20 33130976 33130976 single base substitution C G upstream_gene_variant MELA-AU 20 33131932 33131932 single base substitution A T upstream_gene_variant MELA-AU 20 33132497 33132497 single base substitution C T upstream_gene_variant MELA-AU 20 33132839 33132839 single base substitution G A upstream_gene_variant MELA-AU 20 33133587 33133587 single base substitution G A upstream_gene_variant MELA-AU 20 33133608 33133608 single base substitution C T upstream_gene_variant MELA-AU 20 33134114 33134114 single base substitution G A upstream_gene_variant MELA-AU 20 33134820 33134820 single base substitution G A intron_variant MELA-AU 20 33135038 33135038 single base substitution G A intron_variant MELA-AU 20 33135145 33135145 single base substitution G A intron_variant MELA-AU 20 33135357 33135357 single base substitution G A intron_variant MELA-AU 20 33135952 33135952 single base substitution G A intron_variant MELA-AU 20 33135963 33135963 single base substitution G A intron_variant MELA-AU 20 33136444 33136457 deletion of <=200bp CGAGGCCGGAGGAC - intron_variant MELA-AU 20 33137260 33137260 single base substitution C T intron_variant MELA-AU 20 33137719 33137719 single base substitution C T 5_prime_UTR_variant MELA-AU 20 33137781 33137781 single base substitution G A 5_prime_UTR_variant MELA-AU 20 33138420 33138420 single base substitution G A intron_variant MELA-AU 20 33138589 33138589 single base substitution G A intron_variant MELA-AU 20 33139150 33139150 single base substitution C T intron_variant MELA-AU 20 33139721 33139721 single base substitution G A intron_variant MELA-AU 20 33139916 33139916 single base substitution C A intron_variant MELA-AU 20 33140094 33140094 single base substitution G A intron_variant MELA-AU 20 33140232 33140232 single base substitution G A intron_variant MELA-AU 20 33140291 33140291 single base substitution G A intron_variant MELA-AU 20 33140501 33140501 single base substitution G A intron_variant MELA-AU 20 33141100 33141100 single base substitution G A intron_variant MELA-AU 20 33141100 33141100 single base substitution G A upstream_gene_variant MELA-AU 20 33141372 33141372 single base substitution A G intron_variant MELA-AU 20 33141372 33141372 single base substitution A G upstream_gene_variant MELA-AU 20 33141524 33141524 single base substitution G A intron_variant MELA-AU 20 33141524 33141524 single base substitution G A upstream_gene_variant MELA-AU 20 33141702 33141703 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 33141702 33141703 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 20 33141939 33141939 single base substitution A C intron_variant MELA-AU 20 33141939 33141939 single base substitution A C upstream_gene_variant MELA-AU 20 33142522 33142522 single base substitution G A intron_variant MELA-AU 20 33142522 33142522 single base substitution G A upstream_gene_variant MELA-AU 20 33143652 33143652 single base substitution T C intron_variant MELA-AU 20 33143652 33143652 single base substitution T C upstream_gene_variant MELA-AU 20 33144087 33144087 single base substitution G A intron_variant MELA-AU 20 33144087 33144087 single base substitution G A upstream_gene_variant MELA-AU 20 33145507 33145507 single base substitution G A intron_variant MELA-AU 20 33145507 33145507 single base substitution G A upstream_gene_variant MELA-AU 20 33146361 33146361 single base substitution G A 5_prime_UTR_variant MELA-AU 20 33146361 33146361 single base substitution G A intron_variant MELA-AU 20 33146361 33146361 single base substitution G A upstream_gene_variant MELA-AU 20 33146396 33146396 single base substitution C T 5_prime_UTR_variant MELA-AU 20 33146396 33146396 single base substitution C T intron_variant MELA-AU 20 33146396 33146396 single base substitution C T upstream_gene_variant MELA-AU 20 33146577 33146577 single base substitution C T 5_prime_UTR_variant MELA-AU 20 33146577 33146577 single base substitution C T intron_variant MELA-AU 20 33146577 33146577 single base substitution C T upstream_gene_variant MELA-AU 20 33147309 33147309 single base substitution G A intron_variant MELA-AU 20 33147569 33147570 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 20 33147569 33147570 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A78V 233CC>TT MELA-AU 20 33147569 33147570 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A82V 245CC>TT MELA-AU 20 33147856 33147856 single base substitution C T 3_prime_UTR_variant MELA-AU 20 33147856 33147856 single base substitution C T exon_variant MELA-AU 20 33147856 33147856 single base substitution C T intron_variant MELA-AU 20 33149234 33149234 single base substitution G A downstream_gene_variant MELA-AU 20 33150002 33150002 single base substitution G A downstream_gene_variant MELA-AU 20 33150944 33150944 single base substitution G A downstream_gene_variant MELA-AU 20 33151439 33151439 single base substitution A C downstream_gene_variant MELA-AU 20 33151810 33151810 single base substitution G A downstream_gene_variant MELA-AU 20 33152232 33152232 single base substitution G A downstream_gene_variant MELA-AU 20 33152715 33152715 single base substitution G A downstream_gene_variant MELA-AU 20 33152732 33152733 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 20 33152776 33152776 single base substitution G A downstream_gene_variant ORCA-IN 20 33144070 33144070 single base substitution C T intron_variant ORCA-IN 20 33144070 33144070 single base substitution C T upstream_gene_variant ORCA-IN 20 33148027 33148027 single base substitution C T 3_prime_UTR_variant ORCA-IN 20 33148027 33148027 single base substitution C T exon_variant OV-AU 20 33143081 33143081 single base substitution C G intron_variant OV-AU 20 33143081 33143081 single base substitution C G upstream_gene_variant OV-AU 20 33143419 33143419 single base substitution T C intron_variant OV-AU 20 33143419 33143419 single base substitution T C upstream_gene_variant OV-AU 20 33143520 33143520 single base substitution A T intron_variant OV-AU 20 33143520 33143520 single base substitution A T upstream_gene_variant PACA-AU 20 33129985 33129985 single base substitution C T upstream_gene_variant PACA-AU 20 33133794 33133794 single base substitution C G upstream_gene_variant PACA-AU 20 33146555 33146573 deletion of <=200bp GCTCAGCGCGAGCCCCGGA - 5_prime_UTR_variant PACA-AU 20 33146555 33146573 deletion of <=200bp GCTCAGCGCGAGCCCCGGA - intron_variant PACA-AU 20 33146555 33146573 deletion of <=200bp GCTCAGCGCGAGCCCCGGA - upstream_gene_variant PACA-AU 20 33146698 33146698 single base substitution A G exon_variant PACA-AU 20 33146698 33146698 single base substitution A G intron_variant PACA-AU 20 33146698 33146698 single base substitution A G missense_variant Q9R 26A>G PACA-AU 20 33147526 33147526 single base substitution C T intron_variant PACA-AU 20 33147542 33147542 single base substitution G A missense_variant R69H 206G>A PACA-AU 20 33147542 33147542 single base substitution G A missense_variant R73H 218G>A PACA-AU 20 33147542 33147542 single base substitution G A splice_region_variant PACA-AU 20 33148215 33148215 single base substitution G A downstream_gene_variant PACA-AU 20 33151498 33151498 single base substitution T C downstream_gene_variant PACA-CA 20 33129967 33129967 single base substitution C G upstream_gene_variant PACA-CA 20 33131095 33131095 single base substitution C T upstream_gene_variant PACA-CA 20 33132572 33132572 single base substitution G A upstream_gene_variant PACA-CA 20 33134089 33134089 insertion of <=200bp - CA upstream_gene_variant PACA-CA 20 33135047 33135047 single base substitution C T intron_variant PACA-CA 20 33136367 33136367 single base substitution G A intron_variant PACA-CA 20 33136464 33136464 single base substitution G A intron_variant PACA-CA 20 33137026 33137026 single base substitution C T intron_variant PACA-CA 20 33139787 33139787 single base substitution G A intron_variant PACA-CA 20 33140122 33140122 single base substitution G T intron_variant PACA-CA 20 33140613 33140613 single base substitution G A intron_variant PACA-CA 20 33146175 33146175 single base substitution G T 5_prime_UTR_variant PACA-CA 20 33146175 33146175 single base substitution G T intron_variant PACA-CA 20 33146175 33146175 single base substitution G T upstream_gene_variant PACA-CA 20 33148973 33148973 single base substitution C G downstream_gene_variant PACA-CA 20 33152314 33152314 single base substitution A T downstream_gene_variant PAEN-AU 20 33150977 33150977 single base substitution T C downstream_gene_variant PAEN-IT 20 33132789 33132789 single base substitution C T upstream_gene_variant PAEN-IT 20 33145087 33145087 single base substitution C A intron_variant PAEN-IT 20 33145087 33145087 single base substitution C A upstream_gene_variant PBCA-DE 20 33137030 33137030 single base substitution G A intron_variant PBCA-DE 20 33142159 33142181 deletion of <=200bp TTTTTTTTTTTTTTTTTTTTTTT - intron_variant PBCA-DE 20 33142159 33142181 deletion of <=200bp TTTTTTTTTTTTTTTTTTTTTTT - upstream_gene_variant PBCA-DE 20 33143229 33143229 single base substitution G A intron_variant PBCA-DE 20 33143229 33143229 single base substitution G A upstream_gene_variant PRAD-UK 20 33143358 33143358 single base substitution A G intron_variant PRAD-UK 20 33143358 33143358 single base substitution A G upstream_gene_variant RECA-EU 20 33131148 33131148 single base substitution A C upstream_gene_variant RECA-EU 20 33136648 33136648 single base substitution T C intron_variant RECA-EU 20 33147579 33147579 single base substitution G T exon_variant RECA-EU 20 33147579 33147579 single base substitution G T synonymous_variant L81L 243G>T RECA-EU 20 33147579 33147579 single base substitution G T synonymous_variant L85L 255G>T RECA-EU 20 33147580 33147580 single base substitution C G exon_variant RECA-EU 20 33147580 33147580 single base substitution C G missense_variant L82V 244C>G RECA-EU 20 33147580 33147580 single base substitution C G missense_variant L86V 256C>G SKCA-BR 20 33129985 33129985 single base substitution C T upstream_gene_variant SKCA-BR 20 33132270 33132270 single base substitution C T upstream_gene_variant SKCA-BR 20 33132848 33132848 single base substitution C T upstream_gene_variant SKCA-BR 20 33135221 33135222 deletion of <=200bp CT - intron_variant SKCA-BR 20 33142158 33142181 deletion of <=200bp GTTTTTTTTTTTTTTTTTTTTTTT - intron_variant SKCA-BR 20 33142158 33142181 deletion of <=200bp GTTTTTTTTTTTTTTTTTTTTTTT - upstream_gene_variant SKCA-BR 20 33143898 33143898 single base substitution G A intron_variant SKCA-BR 20 33143898 33143898 single base substitution G A upstream_gene_variant SKCA-BR 20 33143899 33143899 single base substitution G A intron_variant SKCA-BR 20 33143899 33143899 single base substitution G A upstream_gene_variant SKCA-BR 20 33146360 33146360 single base substitution G A 5_prime_UTR_variant SKCA-BR 20 33146360 33146360 single base substitution G A intron_variant SKCA-BR 20 33146360 33146360 single base substitution G A upstream_gene_variant SKCA-BR 20 33147079 33147079 single base substitution A C intron_variant SKCA-BR 20 33148009 33148009 single base substitution A C 3_prime_UTR_variant SKCA-BR 20 33148009 33148009 single base substitution A C exon_variant SKCA-BR 20 33148150 33148150 single base substitution C T downstream_gene_variant SKCA-BR 20 33148151 33148151 single base substitution C T downstream_gene_variant SKCA-BR 20 33152252 33152252 single base substitution C T downstream_gene_variant SKCM-US 20 33137834 33137834 single base substitution G A splice_donor_variant SKCM-US 20 33147581 33147581 single base substitution T C exon_variant SKCM-US 20 33147581 33147581 single base substitution T C missense_variant L82P 245T>C SKCM-US 20 33147581 33147581 single base substitution T C missense_variant L86P 257T>C STAD-US 20 33147545 33147545 single base substitution G A exon_variant STAD-US 20 33147545 33147545 single base substitution G A missense_variant R70H 209G>A STAD-US 20 33147545 33147545 single base substitution G A missense_variant R74H 221G>A STAD-US 20 33147564 33147564 single base substitution G A exon_variant STAD-US 20 33147564 33147564 single base substitution G A synonymous_variant T76T 228G>A STAD-US 20 33147564 33147564 single base substitution G A synonymous_variant T80T 240G>A UCEC-US 20 33147212 33147212 single base substitution T C exon_variant UCEC-US 20 33147212 33147212 single base substitution T C missense_variant L53S 158T>C UCEC-US 20 33147212 33147212 single base substitution T C missense_variant L57S 170T>C UCEC-US 20 33148678 33148678 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HN_62854 COSM124308 c.220C>T p.R74C Substitution - Missense 20:34559740-34559740 + Au10 COSM5598476 c.32G>A p.G11E Substitution - Missense 20:34550009-34550009 + LOVO COSM4291428 c.227C>T p.T76M Substitution - Missense 20:34559759-34559759 + C0011T COSM4164682 c.255G>T p.L85L Substitution - coding silent 20:34559775-34559775 + TCGA-D9-A6EC-06 COSM4404705 c.245T>C p.L82P Substitution - Missense 20:34559777-34559777 + TCGA-JX-A3PZ-01 COSM4823878 c.219G>C p.L73L Substitution - coding silent 20:34559751-34559751 + I2L-P9-Tumor-Organoid COSM5365830 c.362_363delTC p.F121fs? Deletion - Frameshift 20:34559894-34559895 + TCGA-CG-4306-01 COSM4097791 c.221G>A p.R74H Substitution - Missense 20:34559741-34559741 + TCGA-BR-4184-01 COSM4097793 c.240G>A p.T80T Substitution - coding silent 20:34559760-34559760 + 8061178 COSM3770782 c.26A>G p.Q9R Substitution - Missense 20:34558894-34558894 + T2269 COSM4700195 c.43G>A p.D15N Substitution - Missense 20:34559210-34559210 + 353LT COSM4382517 c.346G>A p.V116I Substitution - Missense 20:34559866-34559866 + TCGA-D5-6927-01 COSM5829019 c.42C>T p.A14A Substitution - coding silent 20:34559209-34559209 + LOVO COSM1411300 c.239C>T p.T80M Substitution - Missense 20:34559759-34559759 + TCGA-DR-A0ZM-01 COSM459773 c.218G>A p.R73H Substitution - Missense 20:34559738-34559738 + TCGA-CK-4947-01 COSM1411300 c.239C>T p.T80M Substitution - Missense 20:34559759-34559759 + TCGA-BR-8361-01 COSM4097792 c.209G>A p.R70H Substitution - Missense 20:34559741-34559741 + TCGA-B0-4823-01 COSM478046 c.196G>T p.E66* Substitution - Nonsense 20:34559434-34559434 + TCGA-JX-A3PZ-01 COSM4823877 c.231G>C p.L77L Substitution - coding silent 20:34559751-34559751 + HN_63081 COSM121115 c.297C>T p.I99I Substitution - coding silent 20:34559817-34559817 + TCGA-CA-6718-01 COSM5145035 c.106G>A p.E36K Substitution - Missense 20:34559356-34559356 + TCGA-CA-6718-01 COSM1411299 c.118G>A p.E40K Substitution - Missense 20:34559356-34559356 + SJDOSTEOS007 COSM5759976 c.47A>G p.D16G Substitution - Missense 20:34550024-34550024 + TCGA-BR-8361-01 COSM4097791 c.221G>A p.R74H Substitution - Missense 20:34559741-34559741 + TCGA-CK-5914-01 COSM1411301 c.299C>T p.A100V Substitution - Missense 20:34559819-34559819 + TCGA-FD-A3SJ-01 COSM3799454 c.249C>T p.F83F Substitution - coding silent 20:34559769-34559769 + TCGA-D5-6927-01 COSM3693446 c.54C>T p.A18A Substitution - coding silent 20:34559209-34559209 + TCGA-CG-4306-01 COSM4097792 c.209G>A p.R70H Substitution - Missense 20:34559741-34559741 + TCGA-CK-5914-01 COSM5154307 c.287C>T p.A96V Substitution - Missense 20:34559819-34559819 + 353T COSM4382518 c.334G>A p.V112I Substitution - Missense 20:34559866-34559866 + TCGA-D3-A51G-06 COSM3545540 c.52+1G>A p.? Unknown 20:34550030-34550030 + 587222 COSM1214360 c.298G>A p.A100T Substitution - Missense 20:34559818-34559818 + TCGA-GC-A3RC-01 COSM3799456 c.256C>A p.L86M Substitution - Missense 20:34559776-34559776 + 8066440 COSM459773 c.218G>A p.R73H Substitution - Missense 20:34559738-34559738 + T2269 COSM4700194 c.55G>A p.D19N Substitution - Missense 20:34559210-34559210 + TCGA-BR-4184-01 COSM4097794 c.228G>A p.T76T Substitution - coding silent 20:34559760-34559760 + TCGA-D9-A6EC-06 COSM4404704 c.257T>C p.L86P Substitution - Missense 20:34559777-34559777 + B80-8-Tumor COSM3933853 c.216-2A>G p.? Unknown 20:34559734-34559734 + C0011T COSM4164683 c.243G>T p.L81L Substitution - coding silent 20:34559775-34559775 + TCGA-BS-A0UJ-01 COSM1026037 c.170T>C p.L57S Substitution - Missense 20:34559408-34559408 + C0011T COSM4164685 c.244C>G p.L82V Substitution - Missense 20:34559776-34559776 + C0011T COSM4164684 c.256C>G p.L86V Substitution - Missense 20:34559776-34559776 + B80-8-Tumor COSM3933854 c.204-2A>G p.? Unknown 20:34559734-34559734 + 353T COSM4382517 c.346G>A p.V116I Substitution - Missense 20:34559866-34559866 + I2L-P9-Tumor-Organoid COSM5365829 c.374_375delTC p.F125fs? Deletion - Frameshift 20:34559894-34559895 + TCGA-FD-A3SJ-01 COSM3799455 c.237C>T p.F79F Substitution - coding silent 20:34559769-34559769 + 353LT COSM4382518 c.334G>A p.V112I Substitution - Missense 20:34559866-34559866 + TCGA-CK-4947-01 COSM4291428 c.227C>T p.T76M Substitution - Missense 20:34559759-34559759 + TCGA-GC-A3RC-01 COSM3799457 c.244C>A p.L82M Substitution - Missense 20:34559776-34559776 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.632273 20q11.22 601242

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Synonymous p.P79P c.237C>A 20 33147561 STAD C T Missense p.R74C c.220C>T 20 33147544 HNSC C T Synonymous p.I99I c.297C>T 20 33147621 HNSC G A Missense p.R74H c.221G>A 20 33147545 STAD G T Nonsense p.E66* c.196G>T 20 33147238 RCCC