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 22 21900729 21900729 single base substitution G A missense_variant R1419C 4255C>T BLCA-CN 22 21900729 21900729 single base substitution G A missense_variant R1513C 4537C>T BLCA-CN 22 21901449 21901449 single base substitution T C missense_variant S1179G 3535A>G BLCA-CN 22 21901449 21901449 single base substitution T C missense_variant S1273G 3817A>G BRCA-EU 22 21896231 21896231 single base substitution G C downstream_gene_variant BRCA-EU 22 21897155 21897155 single base substitution G T downstream_gene_variant BRCA-EU 22 21897179 21897179 single base substitution A T downstream_gene_variant BRCA-EU 22 21907250 21907250 single base substitution G A upstream_gene_variant BRCA-EU 22 21907591 21907591 single base substitution G T upstream_gene_variant BRCA-EU 22 21908607 21908607 single base substitution A G upstream_gene_variant BRCA-EU 22 21909172 21909172 single base substitution C G upstream_gene_variant BRCA-EU 22 21909588 21909588 single base substitution T G upstream_gene_variant BRCA-EU 22 21910372 21910372 single base substitution T G upstream_gene_variant BRCA-FR 22 21906477 21906477 single base substitution C T upstream_gene_variant BRCA-FR 22 21909588 21909588 single base substitution T G upstream_gene_variant CLLE-ES 22 21895497 21895497 single base substitution C T downstream_gene_variant CLLE-ES 22 21910567 21910567 single base substitution C T upstream_gene_variant COAD-US 22 21903306 21903306 insertion of <=200bp - GG frameshift_variant G560A? COAD-US 22 21903306 21903306 insertion of <=200bp - GG frameshift_variant G654A? ESAD-UK 22 21909925 21909925 single base substitution A T upstream_gene_variant ESAD-UK 22 21910231 21910231 single base substitution A G upstream_gene_variant ESAD-UK 22 21910506 21910506 single base substitution T C upstream_gene_variant LAML-KR 22 21897362 21897362 single base substitution C T downstream_gene_variant LAML-KR 22 21900729 21900729 single base substitution G A missense_variant R1419C 4255C>T LAML-KR 22 21900729 21900729 single base substitution G A missense_variant R1513C 4537C>T LAML-KR 22 21901449 21901449 single base substitution T C missense_variant S1179G 3535A>G LAML-KR 22 21901449 21901449 single base substitution T C missense_variant S1273G 3817A>G LAML-KR 22 21901478 21901478 single base substitution T G missense_variant E1169A 3506A>C LAML-KR 22 21901478 21901478 single base substitution T G missense_variant E1263A 3788A>C LAML-KR 22 21903267 21903267 single base substitution C G missense_variant G573R 1717G>C LAML-KR 22 21903267 21903267 single base substitution C G missense_variant G667R 1999G>C LAML-KR 22 21904072 21904072 single base substitution G A synonymous_variant N304N 912C>T LAML-KR 22 21904072 21904072 single base substitution G A synonymous_variant N398N 1194C>T LAML-KR 22 21904490 21904490 single base substitution C T missense_variant R165H 494G>A LAML-KR 22 21904490 21904490 single base substitution C T missense_variant R259H 776G>A LAML-KR 22 21904683 21904683 single base substitution C T missense_variant E101K 301G>A LAML-KR 22 21904683 21904683 single base substitution C T missense_variant E195K 583G>A LAML-KR 22 21908528 21908528 single base substitution G A upstream_gene_variant LICA-FR 22 21897241 21897241 single base substitution G T downstream_gene_variant LICA-FR 22 21906725 21906725 single base substitution A C upstream_gene_variant LIRI-JP 22 21910538 21910538 single base substitution G T upstream_gene_variant LIRI-JP 22 21910720 21910720 single base substitution T C upstream_gene_variant LUSC-KR 22 21896418 21896418 single base substitution C G downstream_gene_variant LUSC-KR 22 21897102 21897102 single base substitution G A downstream_gene_variant LUSC-KR 22 21899212 21899212 single base substitution G C downstream_gene_variant LUSC-KR 22 21899810 21899810 single base substitution C G 3_prime_UTR_variant LUSC-KR 22 21899810 21899810 single base substitution C G downstream_gene_variant LUSC-KR 22 21901449 21901449 single base substitution T C missense_variant S1179G 3535A>G LUSC-KR 22 21901449 21901449 single base substitution T C missense_variant S1273G 3817A>G LUSC-KR 22 21901478 21901478 single base substitution T G missense_variant E1169A 3506A>C LUSC-KR 22 21901478 21901478 single base substitution T G missense_variant E1263A 3788A>C LUSC-KR 22 21904072 21904072 single base substitution G A synonymous_variant N304N 912C>T LUSC-KR 22 21904072 21904072 single base substitution G A synonymous_variant N398N 1194C>T LUSC-KR 22 21908508 21908508 single base substitution T G upstream_gene_variant LUSC-KR 22 21908528 21908528 single base substitution G A upstream_gene_variant LUSC-KR 22 21908927 21908927 single base substitution C G upstream_gene_variant LUSC-KR 22 21910057 21910057 single base substitution T C upstream_gene_variant MELA-AU 22 21897466 21897466 single base substitution C T downstream_gene_variant MELA-AU 22 21897516 21897516 single base substitution C T downstream_gene_variant MELA-AU 22 21897553 21897553 single base substitution G A downstream_gene_variant MELA-AU 22 21899198 21899198 single base substitution C A downstream_gene_variant MELA-AU 22 21899867 21899867 single base substitution G A 3_prime_UTR_variant MELA-AU 22 21899867 21899867 single base substitution G A downstream_gene_variant MELA-AU 22 21909968 21909968 single base substitution C T upstream_gene_variant MELA-AU 22 21909969 21909969 single base substitution C T upstream_gene_variant MELA-AU 22 21909997 21909997 single base substitution G A upstream_gene_variant MELA-AU 22 21910018 21910018 single base substitution C T upstream_gene_variant MELA-AU 22 21910048 21910048 single base substitution C T upstream_gene_variant MELA-AU 22 21910175 21910175 single base substitution C T upstream_gene_variant MELA-AU 22 21910206 21910206 single base substitution G A upstream_gene_variant MELA-AU 22 21910214 21910214 single base substitution C T upstream_gene_variant MELA-AU 22 21910230 21910230 single base substitution T G upstream_gene_variant MELA-AU 22 21910459 21910459 single base substitution G A upstream_gene_variant MELA-AU 22 21910507 21910507 single base substitution G A upstream_gene_variant ORCA-IN 22 21909770 21909770 single base substitution A G upstream_gene_variant ORCA-IN 22 21910523 21910523 single base substitution A C upstream_gene_variant PACA-AU 22 21896860 21896860 insertion of <=200bp - ATTT downstream_gene_variant PACA-AU 22 21897529 21897529 single base substitution T A downstream_gene_variant PACA-AU 22 21910494 21910494 single base substitution T G upstream_gene_variant PACA-CA 22 21910021 21910021 single base substitution G A upstream_gene_variant PRAD-UK 22 21897772 21897772 single base substitution T C downstream_gene_variant PRAD-UK 22 21908600 21908600 single base substitution A G upstream_gene_variant SKCA-BR 22 21896479 21896479 single base substitution G A downstream_gene_variant SKCA-BR 22 21896480 21896480 single base substitution G A downstream_gene_variant SKCA-BR 22 21900213 21900213 single base substitution T C 3_prime_UTR_variant SKCA-BR 22 21906281 21906287 deletion of <=200bp TACACAC - upstream_gene_variant SKCA-BR 22 21909835 21909835 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 B84-Tumor COSM4004857 c.4537C>T p.R1513C Substitution - Missense 22:21546440-21546440 - CN-AML-CR-46-Dx COSM5428274 c.583G>A p.E195K Substitution - Missense 22:21550394-21550394 - WSU-HN12 COSM4601280 c.4661G>T p.G1554V Substitution - Missense 22:21546316-21546316 - WSU-HN12 COSM4603570 c.3202_3203insCAGGTG p.Y1068>SGD Complex - insertion inframe 22:21547774-21547775 - CN-AML-CR-17-Dx COSM5424413 c.1194C>T p.N398N Substitution - coding silent 22:21549783-21549783 - SNUH_G50_S1 COSM3681393 c.1928T>G p.L643R Substitution - Missense 22:21549049-21549049 - TCGA-AA-3680-01 COSM293025 c.4766_4767insG p.Q1590fs*22 Insertion - Frameshift 22:21546210-21546211 - CN-AML-CR-4-Dx COSM5427040 c.776G>A p.R259H Substitution - Missense 22:21550201-21550201 - CN-AML-CR-66-Dx COSM4909137 c.3788A>C p.E1263A Substitution - Missense 22:21547189-21547189 - J31_T COSM3964126 c.3817A>G p.S1273G Substitution - Missense 22:21547160-21547160 - CN-AML-CR-66-Dx COSM3964126 c.3817A>G p.S1273G Substitution - Missense 22:21547160-21547160 - SNUH_G26_S1 COSM3681392 c.4171C>T p.R1391W Substitution - Missense 22:21546806-21546806 - B37-Tumor COSM3964126 c.3817A>G p.S1273G Substitution - Missense 22:21547160-21547160 - 575 COSM1415069 c.1189_1191delGAG p.E397delE Deletion - In frame 22:21549786-21549788 - CN-AML-CR-7-Dx COSM5428274 c.583G>A p.E195K Substitution - Missense 22:21550394-21550394 - TCGA-CK-4950-01 COSM1415068 c.1959_1960insCC p.G654fs*3 Insertion - Frameshift 22:21549017-21549018 - CN-AML-CR-23-Dx COSM4909137 c.3788A>C p.E1263A Substitution - Missense 22:21547189-21547189 - CN-AML-CR-25-Dx COSM5426679 c.1999G>C p.G667R Substitution - Missense 22:21548978-21548978 - CN-AML-CR-30-Dx COSM5427040 c.776G>A p.R259H Substitution - Missense 22:21550201-21550201 - CN-AML-CR-30-Dx COSM4004857 c.4537C>T p.R1513C Substitution - Missense 22:21546440-21546440 - CN-AML-CR-66-Dx COSM5426679 c.1999G>C p.G667R Substitution - Missense 22:21548978-21548978 - KU-9T COSM4909137 c.3788A>C p.E1263A Substitution - Missense 22:21547189-21547189 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.447634;Hs.447638;Hs.447643 22q11.21 612701

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - C Frameshift p.Q1590Pfs*22 c.4766dupG 22 21900500 COREAD