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 ACC 22 29656389 29656389 + Silent SNP G G T TCGA-OR-A5LC-01A-11D-A29I-10 TCGA-OR-A5LC-10A-01D-A29L-10 g.chr22:29656389G>T c.909C>A c.(907-909)gcC>gcA p.A303A ACC 22 29661518 29661519 + Frame_Shift_Ins INS - - C TCGA-OR-A5L2-01A-11D-A30A-10 TCGA-OR-A5L2-10A-01D-A30A-10 g.chr22:29661518_29661519insC c.97_98insG c.(97-99)gccfs p.A33fs COAD 22 29656138 29656138 + Silent SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr22:29656138G>A c.1072C>T c.(1072-1074)Ctg>Ttg p.L358L COAD 22 29656438 29656438 + Missense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr22:29656438G>A c.860C>T c.(859-861)cCg>cTg p.P287L COAD 22 29661514 29661515 + Frame_Shift_Ins INS - - C TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr22:29661514_29661515insC c.101_102insG c.(100-102)ggcfs p.G34fs COAD 22 29661544 29661546 + In_Frame_Del DEL CAG CAG - TCGA-CM-4747-01A-01D-1408-10 TCGA-CM-4747-10A-01D-1408-10 g.chr22:29661544_29661546delCAG c.70_72delCTG c.(70-72)ctgdel p.L24del COADREAD 22 29656138 29656138 + Silent SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr22:29656138G>A c.1072C>T c.(1072-1074)Ctg>Ttg p.L358L COADREAD 22 29656438 29656438 + Missense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr22:29656438G>A c.860C>T c.(859-861)cCg>cTg p.P287L COADREAD 22 29661514 29661515 + Frame_Shift_Ins INS - - C TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr22:29661514_29661515insC c.101_102insG c.(100-102)ggcfs p.G34fs COADREAD 22 29661544 29661546 + In_Frame_Del DEL CAG CAG - TCGA-CM-4747-01A-01D-1408-10 TCGA-CM-4747-10A-01D-1408-10 g.chr22:29661544_29661546delCAG c.70_72delCTG c.(70-72)ctgdel p.L24del DLBC 22 29660104 29660104 + Silent SNP C C T TCGA-GS-A9TZ-01A-11D-A38X-10 TCGA-GS-A9TZ-10A-01D-A38X-10 g.chr22:29660104C>T c.252G>A c.(250-252)ctG>ctA p.L84L ESCA 22 29661510 29661510 + Missense_Mutation SNP C C T TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 g.chr22:29661510C>T c.106G>A c.(106-108)Ggc>Agc p.G36S HNSC 22 29656597 29656597 + Missense_Mutation SNP G G A TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr22:29656597G>A c.701C>T c.(700-702)cCc>cTc p.P234L HNSC 22 29656760 29656760 + Missense_Mutation SNP C C A TCGA-TN-A7HJ-01A-12D-A34J-08 TCGA-TN-A7HJ-10A-01D-A34M-08 g.chr22:29656760C>A c.626G>T c.(625-627)tGg>tTg p.W209L KICH 22 29661514 29661515 + Frame_Shift_Ins INS - - C TCGA-KN-8434-01A-11D-2310-10 TCGA-KN-8434-11A-01D-2311-10 g.chr22:29661514_29661515insC c.101_102insG c.(100-102)ggcfs p.G34fs KICH 22 29661514 29661515 + Frame_Shift_Ins INS - - C TCGA-KO-8408-01A-11D-2310-10 TCGA-KO-8408-11A-01D-2311-10 g.chr22:29661514_29661515insC c.101_102insG c.(100-102)ggcfs p.G34fs KIPAN 22 29656765 29656765 + Silent SNP C C A TCGA-DW-7834-01A-11D-2136-08 TCGA-DW-7834-10A-01D-2136-08 g.chr22:29656765C>A c.621G>T c.(619-621)ggG>ggT p.G207G KIPAN 22 29661514 29661515 + Frame_Shift_Ins INS - - C TCGA-KN-8434-01A-11D-2310-10 TCGA-KN-8434-11A-01D-2311-10 g.chr22:29661514_29661515insC c.101_102insG c.(100-102)ggcfs p.G34fs KIPAN 22 29661514 29661515 + Frame_Shift_Ins INS - - C TCGA-KO-8408-01A-11D-2310-10 TCGA-KO-8408-11A-01D-2311-10 g.chr22:29661514_29661515insC c.101_102insG c.(100-102)ggcfs p.G34fs KIRP 22 29656765 29656765 + Silent SNP C C A TCGA-DW-7834-01A-11D-2136-08 TCGA-DW-7834-10A-01D-2136-08 g.chr22:29656765C>A c.621G>T c.(619-621)ggG>ggT p.G207G LIHC 22 29656351 29656351 + Missense_Mutation SNP G G T TCGA-DD-A39Z-01A-11D-A20W-10 TCGA-DD-A39Z-11A-21D-A20W-10 g.chr22:29656351G>T c.947C>A c.(946-948)gCa>gAa p.A316E LUSC 22 29656762 29656762 + Missense_Mutation SNP G G C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr22:29656762G>C c.624C>G c.(622-624)tgC>tgG p.C208W SKCM 22 29656093 29656093 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr22:29656093C>T c.1117G>A c.(1117-1119)Gga>Aga p.G373R SKCM 22 29656197 29656197 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr22:29656197G>A c.1013C>T c.(1012-1014)cCt>cTt p.P338L SKCM 22 29656401 29656401 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr22:29656401C>T c.897G>A c.(895-897)gaG>gaA p.E299E SKCM 22 29656481 29656481 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr22:29656481C>T c.817G>A c.(817-819)Gca>Aca p.A273T SKCM 22 29656592 29656592 + Missense_Mutation SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr22:29656592G>A c.706C>T c.(706-708)Cct>Tct p.P236S SKCM 22 29656822 29656822 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr22:29656822G>A c.564C>T c.(562-564)ccC>ccT p.P188P

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 22 29651439 29651439 single base substitution G C downstream_gene_variant BRCA-EU 22 29651772 29651772 single base substitution G T downstream_gene_variant BRCA-EU 22 29654858 29654858 single base substitution C T downstream_gene_variant BRCA-EU 22 29655347 29655347 single base substitution C T downstream_gene_variant BRCA-EU 22 29656948 29656948 single base substitution G A downstream_gene_variant BRCA-EU 22 29656948 29656948 single base substitution G A intron_variant BRCA-EU 22 29657527 29657527 single base substitution G A downstream_gene_variant BRCA-EU 22 29657527 29657527 single base substitution G A intron_variant BRCA-EU 22 29658196 29658196 single base substitution C G downstream_gene_variant BRCA-EU 22 29658196 29658196 single base substitution C G intron_variant BRCA-EU 22 29659458 29659458 single base substitution C T downstream_gene_variant BRCA-EU 22 29659458 29659458 single base substitution C T intron_variant BRCA-EU 22 29660373 29660373 single base substitution G C downstream_gene_variant BRCA-EU 22 29660373 29660373 single base substitution G C exon_variant BRCA-EU 22 29660373 29660373 single base substitution G C intron_variant BRCA-EU 22 29660720 29660720 single base substitution C A downstream_gene_variant BRCA-EU 22 29660720 29660720 single base substitution C A intron_variant BRCA-EU 22 29660720 29660720 single base substitution C A upstream_gene_variant BRCA-EU 22 29661202 29661202 single base substitution T A downstream_gene_variant BRCA-EU 22 29661202 29661202 single base substitution T A exon_variant BRCA-EU 22 29661202 29661202 single base substitution T A intron_variant BRCA-EU 22 29661202 29661202 single base substitution T A upstream_gene_variant BRCA-EU 22 29662291 29662291 single base substitution C T intron_variant BRCA-EU 22 29662291 29662291 single base substitution C T upstream_gene_variant BRCA-EU 22 29665489 29665489 single base substitution C T upstream_gene_variant BRCA-EU 22 29665637 29665637 single base substitution G A upstream_gene_variant BRCA-EU 22 29667053 29667053 deletion of <=200bp T - upstream_gene_variant BRCA-EU 22 29667092 29667092 single base substitution G T upstream_gene_variant BRCA-EU 22 29667266 29667266 deletion of <=200bp A - upstream_gene_variant BRCA-EU 22 29668232 29668232 single base substitution C T upstream_gene_variant BRCA-US 22 29668221 29668221 deletion of <=200bp C - upstream_gene_variant COAD-US 22 29654817 29654817 single base substitution G A downstream_gene_variant COAD-US 22 29654924 29654924 single base substitution G A downstream_gene_variant COAD-US 22 29656138 29656138 single base substitution G A 3_prime_UTR_variant COAD-US 22 29656138 29656138 single base substitution G A downstream_gene_variant COAD-US 22 29656138 29656138 single base substitution G A synonymous_variant L358L 1072C>T COAD-US 22 29656438 29656438 single base substitution G A 3_prime_UTR_variant COAD-US 22 29656438 29656438 single base substitution G A downstream_gene_variant COAD-US 22 29656438 29656438 single base substitution G A missense_variant P287L 860C>T COAD-US 22 29661514 29661514 insertion of <=200bp - C exon_variant COAD-US 22 29661514 29661514 insertion of <=200bp - C frameshift_variant G34G? COAD-US 22 29661514 29661514 insertion of <=200bp - C upstream_gene_variant COAD-US 22 29661544 29661546 deletion of <=200bp CAG - exon_variant COAD-US 22 29661544 29661546 deletion of <=200bp CAG - inframe_deletion L24 COAD-US 22 29661544 29661546 deletion of <=200bp CAG - upstream_gene_variant COCA-CN 22 29651317 29651317 single base substitution C T downstream_gene_variant COCA-CN 22 29654946 29654946 single base substitution C T downstream_gene_variant COCA-CN 22 29656750 29656750 single base substitution C T 3_prime_UTR_variant COCA-CN 22 29656750 29656750 single base substitution C T downstream_gene_variant COCA-CN 22 29656750 29656750 single base substitution C T exon_variant COCA-CN 22 29656750 29656750 single base substitution C T synonymous_variant R212R 636G>A COCA-CN 22 29656768 29656768 single base substitution C T 3_prime_UTR_variant COCA-CN 22 29656768 29656768 single base substitution C T downstream_gene_variant COCA-CN 22 29656768 29656768 single base substitution C T exon_variant COCA-CN 22 29656768 29656768 single base substitution C T synonymous_variant A206A 618G>A COCA-CN 22 29660088 29660088 single base substitution G T downstream_gene_variant COCA-CN 22 29660088 29660088 single base substitution G T exon_variant COCA-CN 22 29660088 29660088 single base substitution G T intron_variant COCA-CN 22 29660088 29660088 single base substitution G T missense_variant L90M 268C>A EOPC-DE 22 29651183 29651183 single base substitution A C downstream_gene_variant ESAD-UK 22 29652943 29652943 single base substitution C T downstream_gene_variant ESAD-UK 22 29654281 29654281 single base substitution G T downstream_gene_variant ESAD-UK 22 29654680 29654698 deletion of <=200bp AGATACCAGGGTGGATTAT - downstream_gene_variant ESAD-UK 22 29657689 29657689 single base substitution G A downstream_gene_variant ESAD-UK 22 29657689 29657689 single base substitution G A intron_variant ESAD-UK 22 29659516 29659516 single base substitution A C downstream_gene_variant ESAD-UK 22 29659516 29659516 single base substitution A C intron_variant ESAD-UK 22 29662063 29662063 single base substitution G T intron_variant ESAD-UK 22 29662063 29662063 single base substitution G T upstream_gene_variant ESAD-UK 22 29666690 29666690 single base substitution C T upstream_gene_variant KIRC-US 22 29668371 29668371 single base substitution A G upstream_gene_variant KIRP-US 22 29656765 29656765 single base substitution C A 3_prime_UTR_variant KIRP-US 22 29656765 29656765 single base substitution C A downstream_gene_variant KIRP-US 22 29656765 29656765 single base substitution C A exon_variant KIRP-US 22 29656765 29656765 single base substitution C A synonymous_variant G207G 621G>T LAML-KR 22 29664456 29664456 single base substitution A C upstream_gene_variant LICA-FR 22 29654813 29654813 single base substitution G A downstream_gene_variant LICA-FR 22 29655135 29655135 single base substitution G T downstream_gene_variant LIHC-US 22 29664336 29664336 single base substitution C G upstream_gene_variant LINC-JP 22 29651432 29651432 single base substitution G A downstream_gene_variant LINC-JP 22 29660002 29660008 deletion of <=200bp GCTGCCG - downstream_gene_variant LINC-JP 22 29660002 29660008 deletion of <=200bp GCTGCCG - exon_variant LINC-JP 22 29660002 29660008 deletion of <=200bp GCTGCCG - frameshift_variant AGS116 LINC-JP 22 29660002 29660008 deletion of <=200bp GCTGCCG - intron_variant LINC-JP 22 29660015 29660016 deletion of <=200bp CT - downstream_gene_variant LINC-JP 22 29660015 29660016 deletion of <=200bp CT - exon_variant LINC-JP 22 29660015 29660016 deletion of <=200bp CT - frameshift_variant S114 LINC-JP 22 29660015 29660016 deletion of <=200bp CT - intron_variant LINC-JP 22 29661603 29661603 single base substitution C T exon_variant LINC-JP 22 29661603 29661603 single base substitution C T missense_variant G5S 13G>A LINC-JP 22 29661603 29661603 single base substitution C T upstream_gene_variant LINC-JP 22 29666589 29666589 single base substitution C G upstream_gene_variant LIRI-JP 22 29651021 29651024 deletion of <=200bp CTCA - downstream_gene_variant LIRI-JP 22 29652073 29652073 single base substitution T G downstream_gene_variant LIRI-JP 22 29654502 29654502 single base substitution C G downstream_gene_variant LIRI-JP 22 29654609 29654609 deletion of <=200bp T - downstream_gene_variant LIRI-JP 22 29654690 29654690 single base substitution G A downstream_gene_variant LIRI-JP 22 29655120 29655120 single base substitution T C downstream_gene_variant LIRI-JP 22 29656014 29656014 single base substitution C A 3_prime_UTR_variant LIRI-JP 22 29656014 29656014 single base substitution C A downstream_gene_variant LIRI-JP 22 29657653 29657653 single base substitution T C downstream_gene_variant LIRI-JP 22 29657653 29657653 single base substitution T C intron_variant LIRI-JP 22 29665646 29665646 deletion of <=200bp A - upstream_gene_variant LIRI-JP 22 29665655 29665655 single base substitution A G upstream_gene_variant LIRI-JP 22 29666213 29666213 single base substitution T A upstream_gene_variant LUSC-KR 22 29652355 29652355 single base substitution G A downstream_gene_variant LUSC-KR 22 29656891 29656891 single base substitution C A downstream_gene_variant LUSC-KR 22 29656891 29656891 single base substitution C A intron_variant LUSC-KR 22 29658989 29658989 single base substitution C T downstream_gene_variant LUSC-KR 22 29658989 29658989 single base substitution C T intron_variant LUSC-KR 22 29660891 29660891 single base substitution C T downstream_gene_variant LUSC-KR 22 29660891 29660891 single base substitution C T intron_variant LUSC-KR 22 29660891 29660891 single base substitution C T upstream_gene_variant LUSC-KR 22 29661814 29661814 single base substitution C T intron_variant LUSC-KR 22 29661814 29661814 single base substitution C T upstream_gene_variant LUSC-KR 22 29663623 29663623 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 22 29663623 29663623 single base substitution C A intron_variant LUSC-KR 22 29663623 29663623 single base substitution C A upstream_gene_variant LUSC-US 22 29656762 29656762 single base substitution G C 3_prime_UTR_variant LUSC-US 22 29656762 29656762 single base substitution G C downstream_gene_variant LUSC-US 22 29656762 29656762 single base substitution G C exon_variant LUSC-US 22 29656762 29656762 single base substitution G C missense_variant C208W 624C>G MALY-DE 22 29662661 29662661 single base substitution C A intron_variant MALY-DE 22 29662661 29662661 single base substitution C A upstream_gene_variant MALY-DE 22 29666486 29666486 single base substitution G A upstream_gene_variant MELA-AU 22 29650852 29650852 single base substitution G A downstream_gene_variant MELA-AU 22 29651079 29651079 single base substitution G A downstream_gene_variant MELA-AU 22 29651434 29651434 single base substitution T C downstream_gene_variant MELA-AU 22 29652008 29652008 single base substitution C T downstream_gene_variant MELA-AU 22 29652157 29652157 single base substitution C T downstream_gene_variant MELA-AU 22 29652962 29652962 single base substitution G A downstream_gene_variant MELA-AU 22 29653000 29653000 single base substitution C T downstream_gene_variant MELA-AU 22 29653038 29653038 single base substitution G T downstream_gene_variant MELA-AU 22 29653200 29653200 single base substitution G A downstream_gene_variant MELA-AU 22 29653229 29653229 single base substitution G A downstream_gene_variant MELA-AU 22 29653999 29653999 single base substitution G A downstream_gene_variant MELA-AU 22 29654280 29654281 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 29654542 29654542 single base substitution G A downstream_gene_variant MELA-AU 22 29654990 29654990 single base substitution G A downstream_gene_variant MELA-AU 22 29655266 29655266 single base substitution G A downstream_gene_variant MELA-AU 22 29655369 29655369 single base substitution G A downstream_gene_variant MELA-AU 22 29655538 29655538 single base substitution G A downstream_gene_variant MELA-AU 22 29655785 29655785 single base substitution G A downstream_gene_variant MELA-AU 22 29656071 29656071 single base substitution G A 3_prime_UTR_variant MELA-AU 22 29656071 29656071 single base substitution G A downstream_gene_variant MELA-AU 22 29656071 29656071 single base substitution G A missense_variant S380F 1139C>T MELA-AU 22 29656592 29656592 single base substitution G A 3_prime_UTR_variant MELA-AU 22 29656592 29656592 single base substitution G A downstream_gene_variant MELA-AU 22 29656592 29656592 single base substitution G A exon_variant MELA-AU 22 29656592 29656592 single base substitution G A missense_variant P236S 706C>T MELA-AU 22 29656903 29656904 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 29656903 29656904 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 29658744 29658744 single base substitution G A downstream_gene_variant MELA-AU 22 29658744 29658744 single base substitution G A intron_variant MELA-AU 22 29658888 29658888 single base substitution G A downstream_gene_variant MELA-AU 22 29658888 29658888 single base substitution G A intron_variant MELA-AU 22 29659056 29659056 single base substitution C T downstream_gene_variant MELA-AU 22 29659056 29659056 single base substitution C T intron_variant MELA-AU 22 29659057 29659057 single base substitution G A downstream_gene_variant MELA-AU 22 29659057 29659057 single base substitution G A intron_variant MELA-AU 22 29659464 29659464 single base substitution G A downstream_gene_variant MELA-AU 22 29659464 29659464 single base substitution G A intron_variant MELA-AU 22 29660066 29660066 single base substitution G A downstream_gene_variant MELA-AU 22 29660066 29660066 single base substitution G A exon_variant MELA-AU 22 29660066 29660066 single base substitution G A intron_variant MELA-AU 22 29660066 29660066 single base substitution G A missense_variant A97V 290C>T MELA-AU 22 29662286 29662287 deletion of <=200bp CA - intron_variant MELA-AU 22 29662286 29662287 deletion of <=200bp CA - upstream_gene_variant MELA-AU 22 29663156 29663156 single base substitution G A intron_variant MELA-AU 22 29663156 29663156 single base substitution G A upstream_gene_variant MELA-AU 22 29663549 29663549 single base substitution G A 5_prime_UTR_variant MELA-AU 22 29663549 29663549 single base substitution G A exon_variant MELA-AU 22 29663549 29663549 single base substitution G A upstream_gene_variant MELA-AU 22 29663995 29663995 single base substitution C T intron_variant MELA-AU 22 29663995 29663995 single base substitution C T upstream_gene_variant MELA-AU 22 29664146 29664146 single base substitution G A 5_prime_UTR_variant MELA-AU 22 29664146 29664146 single base substitution G A upstream_gene_variant MELA-AU 22 29664401 29664401 single base substitution C T upstream_gene_variant MELA-AU 22 29664992 29664992 single base substitution C T upstream_gene_variant MELA-AU 22 29665112 29665112 single base substitution G A upstream_gene_variant MELA-AU 22 29667155 29667155 single base substitution C T upstream_gene_variant MELA-AU 22 29668327 29668327 single base substitution G A upstream_gene_variant MELA-AU 22 29668508 29668508 single base substitution A G upstream_gene_variant MELA-AU 22 29668689 29668689 single base substitution T C upstream_gene_variant ORCA-IN 22 29656848 29656848 single base substitution C A 3_prime_UTR_variant ORCA-IN 22 29656848 29656848 single base substitution C A downstream_gene_variant ORCA-IN 22 29656848 29656848 single base substitution C A exon_variant ORCA-IN 22 29656848 29656848 single base substitution C A missense_variant A180S 538G>T OV-AU 22 29652290 29652290 single base substitution C T downstream_gene_variant OV-AU 22 29653095 29653095 single base substitution C A downstream_gene_variant OV-AU 22 29664354 29664354 single base substitution C T upstream_gene_variant OV-AU 22 29666558 29666558 single base substitution C G upstream_gene_variant PACA-AU 22 29654008 29654008 single base substitution G A downstream_gene_variant PACA-AU 22 29655141 29655141 single base substitution C T downstream_gene_variant PACA-AU 22 29661833 29661833 single base substitution C T intron_variant PACA-AU 22 29661833 29661833 single base substitution C T upstream_gene_variant PACA-AU 22 29662635 29662635 single base substitution G C intron_variant PACA-AU 22 29662635 29662635 single base substitution G C upstream_gene_variant PACA-AU 22 29664099 29664099 single base substitution G A 5_prime_UTR_variant PACA-AU 22 29664099 29664099 single base substitution G A upstream_gene_variant PACA-CA 22 29657808 29657808 deletion of <=200bp T - downstream_gene_variant PACA-CA 22 29657808 29657808 deletion of <=200bp T - intron_variant PACA-CA 22 29658273 29658273 single base substitution G A downstream_gene_variant PACA-CA 22 29658273 29658273 single base substitution G A intron_variant PACA-CA 22 29661062 29661062 single base substitution C T downstream_gene_variant PACA-CA 22 29661062 29661062 single base substitution C T exon_variant PACA-CA 22 29661062 29661062 single base substitution C T intron_variant PACA-CA 22 29661062 29661062 single base substitution C T upstream_gene_variant PACA-CA 22 29665200 29665200 insertion of <=200bp - C upstream_gene_variant PACA-CA 22 29667180 29667180 single base substitution T G upstream_gene_variant PACA-CA 22 29667265 29667265 single base substitution T A upstream_gene_variant PACA-CA 22 29667725 29667725 single base substitution A G upstream_gene_variant PAEN-AU 22 29650873 29650873 single base substitution C A downstream_gene_variant PAEN-IT 22 29664724 29664724 single base substitution C A upstream_gene_variant PBCA-DE 22 29656109 29656109 single base substitution C T 3_prime_UTR_variant PBCA-DE 22 29656109 29656109 single base substitution C T downstream_gene_variant PBCA-DE 22 29656109 29656109 single base substitution C T synonymous_variant E367E 1101G>A PBCA-DE 22 29658005 29658008 deletion of <=200bp AAAT - downstream_gene_variant PBCA-DE 22 29658005 29658008 deletion of <=200bp AAAT - intron_variant PBCA-DE 22 29663224 29663224 single base substitution A T intron_variant PBCA-DE 22 29663224 29663224 single base substitution A T upstream_gene_variant PRAD-CA 22 29663303 29663303 single base substitution T G intron_variant PRAD-CA 22 29663303 29663303 single base substitution T G upstream_gene_variant PRAD-UK 22 29664961 29664961 single base substitution G C upstream_gene_variant RECA-EU 22 29654421 29654421 single base substitution C G downstream_gene_variant RECA-EU 22 29661939 29661939 single base substitution C A intron_variant RECA-EU 22 29661939 29661939 single base substitution C A upstream_gene_variant RECA-EU 22 29666833 29666833 single base substitution T C upstream_gene_variant SKCA-BR 22 29650971 29650971 single base substitution C T downstream_gene_variant SKCA-BR 22 29651020 29651024 deletion of <=200bp CCTCA - downstream_gene_variant SKCA-BR 22 29651180 29651180 single base substitution C T downstream_gene_variant SKCA-BR 22 29651400 29651400 single base substitution G A downstream_gene_variant SKCA-BR 22 29654168 29654168 single base substitution G A downstream_gene_variant SKCA-BR 22 29656148 29656148 single base substitution A C 3_prime_UTR_variant SKCA-BR 22 29656148 29656148 single base substitution A C downstream_gene_variant SKCA-BR 22 29656148 29656148 single base substitution A C synonymous_variant G354G 1062T>G SKCA-BR 22 29656529 29656529 single base substitution G A 3_prime_UTR_variant SKCA-BR 22 29656529 29656529 single base substitution G A downstream_gene_variant SKCA-BR 22 29656529 29656529 single base substitution G A exon_variant SKCA-BR 22 29656529 29656529 single base substitution G A missense_variant P257S 769C>T SKCA-BR 22 29661510 29661510 single base substitution C G exon_variant SKCA-BR 22 29661510 29661510 single base substitution C G missense_variant G36R 106G>C SKCA-BR 22 29661510 29661510 single base substitution C G upstream_gene_variant SKCA-BR 22 29661524 29661524 single base substitution A C exon_variant SKCA-BR 22 29661524 29661524 single base substitution A C missense_variant V31G 92T>G SKCA-BR 22 29661524 29661524 single base substitution A C upstream_gene_variant SKCA-BR 22 29661538 29661538 single base substitution G C exon_variant SKCA-BR 22 29661538 29661538 single base substitution G C missense_variant S26R 78C>G SKCA-BR 22 29661538 29661538 single base substitution G C upstream_gene_variant SKCA-BR 22 29662476 29662476 single base substitution A G intron_variant SKCA-BR 22 29662476 29662476 single base substitution A G upstream_gene_variant SKCA-BR 22 29663936 29663936 single base substitution T C 5_prime_UTR_variant SKCA-BR 22 29663936 29663936 single base substitution T C exon_variant SKCA-BR 22 29663936 29663936 single base substitution T C intron_variant SKCA-BR 22 29663936 29663936 single base substitution T C upstream_gene_variant SKCA-BR 22 29663942 29663942 single base substitution A C 5_prime_UTR_variant SKCA-BR 22 29663942 29663942 single base substitution A C exon_variant SKCA-BR 22 29663942 29663942 single base substitution A C intron_variant SKCA-BR 22 29663942 29663942 single base substitution A C upstream_gene_variant SKCA-BR 22 29664396 29664396 single base substitution T G upstream_gene_variant SKCA-BR 22 29664449 29664449 single base substitution T G upstream_gene_variant SKCA-BR 22 29665120 29665120 single base substitution A T upstream_gene_variant SKCA-BR 22 29666485 29666485 single base substitution T C upstream_gene_variant SKCM-US 22 29656093 29656093 single base substitution C T 3_prime_UTR_variant SKCM-US 22 29656093 29656093 single base substitution C T downstream_gene_variant SKCM-US 22 29656093 29656093 single base substitution C T missense_variant G373R 1117G>A SKCM-US 22 29656197 29656197 single base substitution G A 3_prime_UTR_variant SKCM-US 22 29656197 29656197 single base substitution G A downstream_gene_variant SKCM-US 22 29656197 29656197 single base substitution G A missense_variant P338L 1013C>T SKCM-US 22 29656198 29656198 single base substitution G A 3_prime_UTR_variant SKCM-US 22 29656198 29656198 single base substitution G A downstream_gene_variant SKCM-US 22 29656198 29656198 single base substitution G A missense_variant P338S 1012C>T SKCM-US 22 29656401 29656401 single base substitution C T 3_prime_UTR_variant SKCM-US 22 29656401 29656401 single base substitution C T downstream_gene_variant SKCM-US 22 29656401 29656401 single base substitution C T synonymous_variant E299E 897G>A SKCM-US 22 29656481 29656481 single base substitution C T 3_prime_UTR_variant SKCM-US 22 29656481 29656481 single base substitution C T downstream_gene_variant SKCM-US 22 29656481 29656481 single base substitution C T missense_variant A273T 817G>A SKCM-US 22 29656592 29656592 single base substitution G A 3_prime_UTR_variant SKCM-US 22 29656592 29656592 single base substitution G A downstream_gene_variant SKCM-US 22 29656592 29656592 single base substitution G A exon_variant SKCM-US 22 29656592 29656592 single base substitution G A missense_variant P236S 706C>T SKCM-US 22 29656822 29656822 single base substitution G A 3_prime_UTR_variant SKCM-US 22 29656822 29656822 single base substitution G A downstream_gene_variant SKCM-US 22 29656822 29656822 single base substitution G A exon_variant SKCM-US 22 29656822 29656822 single base substitution G A synonymous_variant P188P 564C>T STAD-US 22 29654828 29654828 single base substitution G A downstream_gene_variant STAD-US 22 29656789 29656789 single base substitution G A 3_prime_UTR_variant STAD-US 22 29656789 29656789 single base substitution G A downstream_gene_variant STAD-US 22 29656789 29656789 single base substitution G A exon_variant STAD-US 22 29656789 29656789 single base substitution G A synonymous_variant G199G 597C>T STAD-US 22 29668385 29668385 single base substitution G A upstream_gene_variant THCA-US 22 29656429 29656429 single base substitution G A 3_prime_UTR_variant THCA-US 22 29656429 29656429 single base substitution G A downstream_gene_variant THCA-US 22 29656429 29656429 single base substitution G A missense_variant A290V 869C>T UCEC-US 22 29656131 29656131 single base substitution A T 3_prime_UTR_variant UCEC-US 22 29656131 29656131 single base substitution A T downstream_gene_variant UCEC-US 22 29656131 29656131 single base substitution A T missense_variant V360D 1079T>A UCEC-US 22 29656321 29656323 deletion of <=200bp GAG - 3_prime_UTR_variant UCEC-US 22 29656321 29656323 deletion of <=200bp GAG - disruptive_inframe_deletion SS325S UCEC-US 22 29656321 29656323 deletion of <=200bp GAG - downstream_gene_variant UCEC-US 22 29659833 29659833 single base substitution C T downstream_gene_variant UCEC-US 22 29659833 29659833 single base substitution C T exon_variant UCEC-US 22 29659833 29659833 single base substitution C T intron_variant UCEC-US 22 29659833 29659833 single base substitution C T missense_variant G175S 523G>A UCEC-US 22 29659844 29659844 deletion of <=200bp C - downstream_gene_variant UCEC-US 22 29659844 29659844 deletion of <=200bp C - exon_variant UCEC-US 22 29659844 29659844 deletion of <=200bp C - frameshift_variant G171 UCEC-US 22 29659844 29659844 deletion of <=200bp C - intron_variant UCEC-US 22 29668384 29668384 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand I2L-P7-Tumor-Organoid COSM5366579 c.1115A>G p.H372R Substitution - Missense 22:29260106-29260106 - TCGA-EE-A29D-06 COSM3553108 c.817G>A p.A273T Substitution - Missense 22:29260492-29260492 - LC_C15 COSM1190413 c.952T>C p.W318R Substitution - Missense 22:29260357-29260357 - CSCC-29-T COSM4556374 c.689G>A p.G230E Substitution - Missense 22:29260708-29260708 - WSU-HN13 COSM4298329 c.98C>G p.A33G Substitution - Missense 22:29265529-29265529 - TCGA-D1-A167-01 COSM1033119 c.523G>A p.G175S Substitution - Missense 22:29263844-29263844 - S02322 COSM5691425 c.617C>G p.A206G Substitution - Missense 22:29260780-29260780 - UM-SCC-2 COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - TCGA-CM-4747-01 COSM1415478 c.70_72delCTG p.L24delL Deletion - In frame 22:29265555-29265557 - CSCC-27-T COSM88653 c.911C>T p.S304L Substitution - Missense 22:29260398-29260398 - TCGA-EM-A3FK-01 COSM3371890 c.869C>T p.A290V Substitution - Missense 22:29260440-29260440 - TCGA-EE-A181-06 COSM3553107 c.897G>A p.E299E Substitution - coding silent 22:29260412-29260412 - UM-SCC-2 COSM4298329 c.98C>G p.A33G Substitution - Missense 22:29265529-29265529 - TCGA-EE-A29M-06 COSM3553104 c.1117G>A p.G373R Substitution - Missense 22:29260104-29260104 - PTC-28C COSM4156117 c.446C>A p.P149Q Substitution - Missense 22:29263921-29263921 - GC_307T-GC_307N COSM4771746 c.378G>T p.L126L Substitution - coding silent 22:29263989-29263989 - TCGA-D1-A17H-01 COSM1033118 c.975_977delCTC p.S326delS Deletion - In frame 22:29260332-29260334 - SCC-25 COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - PTC-6C COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - TCGA-AA-3663-01 COSM1415475 c.1072C>T p.L358L Substitution - coding silent 22:29260149-29260149 - UD-SCC-2 COSM4298329 c.98C>G p.A33G Substitution - Missense 22:29265529-29265529 - CAL33 COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - WSU-HN12 COSM4298329 c.98C>G p.A33G Substitution - Missense 22:29265529-29265529 - TCGA-D3-A51G-06 COSM3553105 c.1013C>T p.P338L Substitution - Missense 22:29260208-29260208 - PTC-10C COSM3766703 c.909C>A p.A303A Substitution - coding silent 22:29260400-29260400 - CAL27 COSM4298329 c.98C>G p.A33G Substitution - Missense 22:29265529-29265529 - TCGA-BI-A0VS-01 COSM1294064 c.162G>A p.L54L Substitution - coding silent 22:29264205-29264205 - TCGA-AP-A051-01 COSM1033120 c.512delG p.G171fs*41 Deletion - Frameshift 22:29263855-29263855 - CRC-02T COSM5454998 c.268C>A p.L90M Substitution - Missense 22:29264099-29264099 - sysucc-311T COSM5465449 c.636G>A p.R212R Substitution - coding silent 22:29260761-29260761 - ATL008 COSM5707621 c.1055T>G p.V352G Substitution - Missense 22:29260166-29260166 - PTC-7C COSM4156118 c.396G>A p.E132E Substitution - coding silent 22:29263971-29263971 - UM-SCC-47 COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - T5 COSM4156118 c.396G>A p.E132E Substitution - coding silent 22:29263971-29263971 - SCC-9 COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - PTC-50C COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - CSCC-44-T COSM4518967 c.898_899GG>AA p.G300N Substitution - Missense 22:29260410-29260411 - HX35T COSM1616328 c.13G>A p.G5S Substitution - Missense 22:29265614-29265614 - H650 COSM1194536 c.112G>A p.V38I Substitution - Missense 22:29265515-29265515 - TCGA-CM-5862-01 COSM1415477 c.101_102insG p.G36fs*102 Insertion - Frameshift 22:29265525-29265526 - NOKSI COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - HCC28T COSM1616328 c.13G>A p.G5S Substitution - Missense 22:29265614-29265614 - TCGA-D1-A103-01 COSM1033117 c.1079T>A p.V360D Substitution - Missense 22:29260142-29260142 - PTC-28C COSM3766703 c.909C>A p.A303A Substitution - coding silent 22:29260400-29260400 - WSU-HN8 COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - TCGA-FS-A1ZK-06 COSM3553106 c.1012C>T p.P338S Substitution - Missense 22:29260209-29260209 - WSU-HN30 COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - sysucc-1370T COSM2936188 c.618G>A p.A206A Substitution - coding silent 22:29260779-29260779 - BICR_22 COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - LIM2551 COSM4644412 c.784C>T p.P262S Substitution - Missense 22:29260525-29260525 - SCC-15 COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - 460 COSM4436519 c.1141G>A p.E381K Substitution - Missense 22:29260080-29260080 - WSU-HN12 COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - WSU-HN6 COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - UD-SCC-2 COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - T31 COSM3766703 c.909C>A p.A303A Substitution - coding silent 22:29260400-29260400 - TCGA-DW-7834-01 COSM3992080 c.621G>T p.G207G Substitution - coding silent 22:29260776-29260776 - TCGA-EE-A182-06 COSM3553109 c.706C>T p.P236S Substitution - Missense 22:29260603-29260603 - UPCI:SCC090 COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - 2492708 COSM5718483 c.103C>T p.P35S Substitution - Missense 22:29265524-29265524 - TCGA-A6-5661-01 COSM1415476 c.860C>T p.P287L Substitution - Missense 22:29260449-29260449 - 2492709 COSM5718483 c.103C>T p.P35S Substitution - Missense 22:29265524-29265524 - PTC-7C COSM5446420 c.511delG p.G171fs*41 Deletion - Frameshift 22:29263856-29263856 - HCC94T COSM1616327 c.340_341delAG p.S114fs*23 Deletion - Frameshift 22:29264026-29264027 - ML_15_T_01 COSM5033678 c.1062T>G p.G354G Substitution - coding silent 22:29260159-29260159 - CAL27 COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - WSU-HN13 COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - ESO-175 COSM1264134 c.601T>G p.L201V Substitution - Missense 22:29260796-29260796 - I2L-P9-Tumor-Biopsy COSM5366386 c.532+9delT p.? Unknown 22:29263826-29263826 - BHY COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - OSCC-GB_00670111 COSM4883865 c.538G>T p.A180S Substitution - Missense 22:29260859-29260859 - BN32T COSM1616326 c.498G>A p.L166L Substitution - coding silent 22:29263869-29263869 - YUGURT COSM5393354 c.744C>T p.S248S Substitution - coding silent 22:29260565-29260565 - CHC197T COSM3766703 c.909C>A p.A303A Substitution - coding silent 22:29260400-29260400 - UM-SCC-4 COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - HDC90 COSM4637420 c.522C>T p.A174A Substitution - coding silent 22:29263845-29263845 - 93VU147T COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - UM-SCC-17B COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - HCC28 COSM1616328 c.13G>A p.G5S Substitution - Missense 22:29265614-29265614 - TCGA-GN-A266-06 COSM3553110 c.564C>T p.P188P Substitution - coding silent 22:29260833-29260833 - T578 COSM4721516 c.1000C>T p.R334C Substitution - Missense 22:29260221-29260221 - ORL-48 COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - TCGA-66-2785-01 COSM726009 c.624C>G p.C208W Substitution - Missense 22:29260773-29260773 - PTC-54C COSM4156119 c.92T>G p.V31G Substitution - Missense 22:29265535-29265535 - 93VU147T COSM4298329 c.98C>G p.A33G Substitution - Missense 22:29265529-29265529 - 2492710 COSM5718483 c.103C>T p.P35S Substitution - Missense 22:29265524-29265524 - OCC08PT COSM88653 c.911C>T p.S304L Substitution - Missense 22:29260398-29260398 - KM12 COSM2936192 c.115C>A p.L39M Substitution - Missense 22:29265512-29265512 - T29 COSM3766703 c.909C>A p.A303A Substitution - coding silent 22:29260400-29260400 - TCGA-HU-A4GU-01 COSM4103281 c.597C>T p.G199G Substitution - coding silent 22:29260800-29260800 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.106730 22q12.2 2441984|CGAP|BC002705|A/C|coding|Ala303Ala|931|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L201V c.601T>G 22 29656785 ESCA CC GT IntronicBlockSubstitution . c.695+13_695+14delinsAC 22 29656677 CM C T Missense p.G373R c.1117G>A 22 29656093 CM C T Synonymous p.E299E c.897G>A 22 29656401 CM GAG - InFrameDeletion p.S326delS c.975_977delCTC 22 29656321 UCEC G A Missense p.A290V c.869C>T 22 29656429 THCA G A Missense p.P236S c.706C>T 22 29656592 CM G A Missense p.P338S c.1012C>T 22 29656198 CM GG AA Synonymous p.(=) c.186_187delinsTT 22 29660169 CM