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 22 41347432 41347432 + Silent SNP G G C TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr22:41347432G>C c.30G>C c.(28-30)ccG>ccC p.P10P BLCA 22 41363815 41363815 + Missense_Mutation SNP T T G TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr22:41363815T>G c.241T>G c.(241-243)Ttc>Gtc p.F81V CESC 22 41349561 41349561 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr22:41349561G>C c.81G>C c.(79-81)tgG>tgC p.W27C COADREAD 22 41363831 41363831 + Missense_Mutation SNP G G A TCGA-AG-3887-01A-01W-1073-09 TCGA-AG-3887-10A-01W-1073-09 g.chr22:41363831G>A c.257G>A c.(256-258)cGc>cAc p.R86H GBMLGG 22 41347409 41347409 + Missense_Mutation SNP G G A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 g.chr22:41347409G>A c.7G>A c.(7-9)Gca>Aca p.A3T HNSC 22 41347432 41347432 + Silent SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 g.chr22:41347432G>T c.30G>T c.(28-30)ccG>ccT p.P10P HNSC 22 41349589 41349589 + Missense_Mutation SNP A A G TCGA-CN-A641-01A-11D-A30E-08 TCGA-CN-A641-10A-01D-A30H-08 g.chr22:41349589A>G c.109A>G c.(109-111)Att>Gtt p.I37V HNSC 22 41349628 41349628 + Missense_Mutation SNP A A G TCGA-CV-7242-01A-11D-2012-08 TCGA-CV-7242-10A-01D-2013-08 g.chr22:41349628A>G c.148A>G c.(148-150)Atg>Gtg p.M50V HNSC 22 41360103 41360103 + Silent SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 g.chr22:41360103C>T c.210C>T c.(208-210)gtC>gtT p.V70V HNSC 22 41363843 41363843 + Missense_Mutation SNP C C T TCGA-HD-7754-01A-11D-2078-08 TCGA-HD-7754-10A-01D-2078-08 g.chr22:41363843C>T c.269C>T c.(268-270)aCa>aTa p.T90I KICH 22 41368482 41368482 + Missense_Mutation SNP A A G TCGA-KO-8407-01A-11D-2310-10 TCGA-KO-8407-11A-01D-2311-10 g.chr22:41368482A>G c.317A>G c.(316-318)tAt>tGt p.Y106C KIPAN 22 41368482 41368482 + Missense_Mutation SNP A A G TCGA-KO-8407-01A-11D-2310-10 TCGA-KO-8407-11A-01D-2311-10 g.chr22:41368482A>G c.317A>G c.(316-318)tAt>tGt p.Y106C LGG 22 41347409 41347409 + Missense_Mutation SNP G G A TCGA-RY-A83Z-01A-11D-A36O-08 TCGA-RY-A83Z-10A-01D-A367-08 g.chr22:41347409G>A c.7G>A c.(7-9)Gca>Aca p.A3T LUSC 22 41349630 41349630 + Missense_Mutation SNP G G A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 g.chr22:41349630G>A c.150G>A c.(148-150)atG>atA p.M50I READ 22 41363831 41363831 + Missense_Mutation SNP G G A TCGA-AG-3887-01A-01W-1073-09 TCGA-AG-3887-10A-01W-1073-09 g.chr22:41363831G>A c.257G>A c.(256-258)cGc>cAc p.R86H

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 41343102 41343102 single base substitution C T upstream_gene_variant BRCA-EU 22 41343534 41343534 single base substitution A T upstream_gene_variant BRCA-EU 22 41346088 41346088 single base substitution C T upstream_gene_variant BRCA-EU 22 41346247 41346247 single base substitution G C upstream_gene_variant BRCA-EU 22 41346398 41346398 single base substitution G T upstream_gene_variant BRCA-EU 22 41347075 41347075 single base substitution G A upstream_gene_variant BRCA-EU 22 41347140 41347140 single base substitution C T upstream_gene_variant BRCA-EU 22 41347571 41347571 single base substitution G A intron_variant BRCA-EU 22 41348331 41348331 single base substitution A G intron_variant BRCA-EU 22 41349509 41349509 single base substitution G A intron_variant BRCA-EU 22 41350565 41350565 single base substitution G A intron_variant BRCA-EU 22 41353543 41353543 single base substitution G A intron_variant BRCA-EU 22 41355392 41355392 deletion of <=200bp T - intron_variant BRCA-EU 22 41357905 41357905 single base substitution C T intron_variant BRCA-EU 22 41357905 41357905 single base substitution C T upstream_gene_variant BRCA-EU 22 41358135 41358135 single base substitution G C intron_variant BRCA-EU 22 41358135 41358135 single base substitution G C upstream_gene_variant BRCA-EU 22 41359220 41359220 single base substitution T C intron_variant BRCA-EU 22 41359220 41359220 single base substitution T C upstream_gene_variant BRCA-EU 22 41359326 41359326 single base substitution C G intron_variant BRCA-EU 22 41359326 41359326 single base substitution C G upstream_gene_variant BRCA-EU 22 41359985 41359985 single base substitution G C intron_variant BRCA-EU 22 41359985 41359985 single base substitution G C upstream_gene_variant BRCA-EU 22 41360435 41360435 single base substitution G C downstream_gene_variant BRCA-EU 22 41360435 41360435 single base substitution G C intron_variant BRCA-EU 22 41360435 41360435 single base substitution G C upstream_gene_variant BRCA-EU 22 41362423 41362423 single base substitution A C downstream_gene_variant BRCA-EU 22 41362423 41362423 single base substitution A C exon_variant BRCA-EU 22 41362423 41362423 single base substitution A C intron_variant BRCA-EU 22 41362525 41362525 single base substitution T G downstream_gene_variant BRCA-EU 22 41362525 41362525 single base substitution T G exon_variant BRCA-EU 22 41362525 41362525 single base substitution T G intron_variant BRCA-EU 22 41362647 41362647 single base substitution G A downstream_gene_variant BRCA-EU 22 41362647 41362647 single base substitution G A exon_variant BRCA-EU 22 41362647 41362647 single base substitution G A intron_variant BRCA-EU 22 41363313 41363313 single base substitution G C downstream_gene_variant BRCA-EU 22 41363313 41363313 single base substitution G C exon_variant BRCA-EU 22 41363313 41363313 single base substitution G C intron_variant BRCA-EU 22 41363923 41363923 single base substitution G C downstream_gene_variant BRCA-EU 22 41363923 41363923 single base substitution G C intron_variant BRCA-EU 22 41363938 41363938 single base substitution G T downstream_gene_variant BRCA-EU 22 41363938 41363938 single base substitution G T intron_variant BRCA-EU 22 41363960 41363960 single base substitution A T downstream_gene_variant BRCA-EU 22 41363960 41363960 single base substitution A T intron_variant BRCA-EU 22 41364034 41364034 single base substitution A G downstream_gene_variant BRCA-EU 22 41364034 41364034 single base substitution A G intron_variant BRCA-EU 22 41364279 41364279 single base substitution G C downstream_gene_variant BRCA-EU 22 41364279 41364279 single base substitution G C intron_variant BRCA-EU 22 41367802 41367802 single base substitution C T intron_variant BRCA-EU 22 41370241 41370241 deletion of <=200bp T - downstream_gene_variant BRCA-EU 22 41371306 41371306 single base substitution G A downstream_gene_variant BRCA-EU 22 41372128 41372128 single base substitution A C downstream_gene_variant BRCA-EU 22 41372769 41372769 single base substitution G A downstream_gene_variant BRCA-EU 22 41372772 41372772 single base substitution G T downstream_gene_variant BRCA-EU 22 41373012 41373012 single base substitution G C downstream_gene_variant BRCA-FR 22 41346247 41346247 single base substitution G C upstream_gene_variant BRCA-FR 22 41348331 41348331 single base substitution A G intron_variant BRCA-FR 22 41364034 41364034 single base substitution A G downstream_gene_variant BRCA-FR 22 41364034 41364034 single base substitution A G intron_variant BRCA-FR 22 41364279 41364279 single base substitution G C downstream_gene_variant BRCA-FR 22 41364279 41364279 single base substitution G C intron_variant BRCA-FR 22 41367802 41367802 single base substitution C T intron_variant BRCA-FR 22 41373012 41373012 single base substitution G C downstream_gene_variant BTCA-JP 22 41368599 41368599 insertion of <=200bp - T 3_prime_UTR_variant BTCA-JP 22 41368599 41368599 insertion of <=200bp - T exon_variant CESC-US 22 41349561 41349561 single base substitution G C missense_variant W27C 81G>C CESC-US 22 41349561 41349561 single base substitution G C splice_region_variant CLLE-ES 22 41368995 41368995 single base substitution A C 3_prime_UTR_variant CLLE-ES 22 41368995 41368995 single base substitution A C downstream_gene_variant COCA-CN 22 41348711 41348711 single base substitution G T intron_variant COCA-CN 22 41349453 41349453 single base substitution T A intron_variant COCA-CN 22 41349509 41349509 single base substitution G A intron_variant ESAD-UK 22 41344660 41344660 single base substitution G A upstream_gene_variant ESAD-UK 22 41344756 41344756 single base substitution C A upstream_gene_variant ESAD-UK 22 41347593 41347593 single base substitution G C intron_variant ESAD-UK 22 41348182 41348182 single base substitution G C intron_variant ESAD-UK 22 41348387 41348387 single base substitution T C intron_variant ESAD-UK 22 41348602 41348602 single base substitution G A intron_variant ESAD-UK 22 41349403 41349403 single base substitution C A intron_variant ESAD-UK 22 41352521 41352521 insertion of <=200bp - T intron_variant ESAD-UK 22 41354854 41354854 single base substitution G A intron_variant ESAD-UK 22 41355699 41355699 single base substitution C A intron_variant ESAD-UK 22 41356935 41356935 single base substitution T G intron_variant ESAD-UK 22 41357274 41357274 single base substitution A T intron_variant ESAD-UK 22 41357274 41357274 single base substitution A T upstream_gene_variant ESAD-UK 22 41357961 41357961 single base substitution G T intron_variant ESAD-UK 22 41357961 41357961 single base substitution G T upstream_gene_variant ESAD-UK 22 41357962 41357962 single base substitution C T intron_variant ESAD-UK 22 41357962 41357962 single base substitution C T upstream_gene_variant ESAD-UK 22 41361428 41361428 single base substitution T G downstream_gene_variant ESAD-UK 22 41361428 41361428 single base substitution T G intron_variant ESAD-UK 22 41361428 41361428 single base substitution T G upstream_gene_variant ESAD-UK 22 41362847 41362847 single base substitution G A downstream_gene_variant ESAD-UK 22 41362847 41362847 single base substitution G A exon_variant ESAD-UK 22 41362847 41362847 single base substitution G A intron_variant ESAD-UK 22 41363352 41363352 single base substitution G A downstream_gene_variant ESAD-UK 22 41363352 41363352 single base substitution G A exon_variant ESAD-UK 22 41363352 41363352 single base substitution G A intron_variant ESAD-UK 22 41363386 41363386 single base substitution C A downstream_gene_variant ESAD-UK 22 41363386 41363386 single base substitution C A exon_variant ESAD-UK 22 41363386 41363386 single base substitution C A intron_variant ESAD-UK 22 41365593 41365593 single base substitution A C intron_variant ESAD-UK 22 41366329 41366329 single base substitution G A intron_variant ESAD-UK 22 41369673 41369673 single base substitution A T downstream_gene_variant ESAD-UK 22 41370177 41370177 single base substitution A C downstream_gene_variant ESAD-UK 22 41370229 41370229 single base substitution A T downstream_gene_variant LAML-KR 22 41372437 41372437 single base substitution A G downstream_gene_variant LICA-CN 22 41347415 41347415 single base substitution A G exon_variant LICA-CN 22 41347415 41347415 single base substitution A G missense_variant M5V 13A>G LICA-FR 22 41350275 41350275 insertion of <=200bp - A intron_variant LINC-JP 22 41342820 41342820 single base substitution C T upstream_gene_variant LINC-JP 22 41347328 41347328 single base substitution C G upstream_gene_variant LINC-JP 22 41352399 41352399 deletion of <=200bp T - intron_variant LINC-JP 22 41363709 41363709 single base substitution A T downstream_gene_variant LINC-JP 22 41363709 41363709 single base substitution A T exon_variant LINC-JP 22 41363709 41363709 single base substitution A T intron_variant LIRI-JP 22 41345117 41345117 single base substitution C T upstream_gene_variant LIRI-JP 22 41348818 41348818 single base substitution A G intron_variant LIRI-JP 22 41350452 41350452 single base substitution A G intron_variant LIRI-JP 22 41353363 41353364 deletion of <=200bp CT - intron_variant LIRI-JP 22 41355841 41355841 single base substitution T G intron_variant LIRI-JP 22 41359244 41359244 single base substitution A C intron_variant LIRI-JP 22 41359244 41359244 single base substitution A C upstream_gene_variant LIRI-JP 22 41360798 41360798 single base substitution G A downstream_gene_variant LIRI-JP 22 41360798 41360798 single base substitution G A intron_variant LIRI-JP 22 41360798 41360798 single base substitution G A upstream_gene_variant LIRI-JP 22 41361029 41361029 single base substitution C T downstream_gene_variant LIRI-JP 22 41361029 41361029 single base substitution C T intron_variant LIRI-JP 22 41361029 41361029 single base substitution C T upstream_gene_variant LIRI-JP 22 41361686 41361686 single base substitution T C downstream_gene_variant LIRI-JP 22 41361686 41361686 single base substitution T C intron_variant LIRI-JP 22 41361686 41361686 single base substitution T C upstream_gene_variant LIRI-JP 22 41362046 41362046 single base substitution G C downstream_gene_variant LIRI-JP 22 41362046 41362046 single base substitution G C intron_variant LIRI-JP 22 41362046 41362046 single base substitution G C upstream_gene_variant LIRI-JP 22 41362458 41362481 deletion of <=200bp CAACACCTGATGGTTAAGAAAAAT - downstream_gene_variant LIRI-JP 22 41362458 41362481 deletion of <=200bp CAACACCTGATGGTTAAGAAAAAT - exon_variant LIRI-JP 22 41362458 41362481 deletion of <=200bp CAACACCTGATGGTTAAGAAAAAT - intron_variant LIRI-JP 22 41363655 41363655 single base substitution T G downstream_gene_variant LIRI-JP 22 41363655 41363655 single base substitution T G exon_variant LIRI-JP 22 41363655 41363655 single base substitution T G intron_variant LIRI-JP 22 41363880 41363880 single base substitution A G downstream_gene_variant LIRI-JP 22 41363880 41363880 single base substitution A G exon_variant LIRI-JP 22 41363880 41363880 single base substitution A G synonymous_variant E102E 306A>G LIRI-JP 22 41364018 41364018 single base substitution G A downstream_gene_variant LIRI-JP 22 41364018 41364018 single base substitution G A intron_variant LIRI-JP 22 41368731 41368731 single base substitution G T 3_prime_UTR_variant LIRI-JP 22 41368731 41368731 single base substitution G T downstream_gene_variant LIRI-JP 22 41369333 41369333 single base substitution G A downstream_gene_variant LUSC-KR 22 41343267 41343267 single base substitution C T upstream_gene_variant LUSC-KR 22 41347387 41347387 single base substitution A C 5_prime_UTR_variant LUSC-KR 22 41347387 41347387 single base substitution A C exon_variant LUSC-KR 22 41347446 41347446 single base substitution G T exon_variant LUSC-KR 22 41347446 41347446 single base substitution G T missense_variant S15I 44G>T LUSC-KR 22 41374092 41374092 single base substitution G T downstream_gene_variant LUSC-KR 22 41374130 41374130 single base substitution G A downstream_gene_variant LUSC-US 22 41349630 41349630 single base substitution G A exon_variant LUSC-US 22 41349630 41349630 single base substitution G A missense_variant M50I 150G>A MALY-DE 22 41343002 41343002 single base substitution T A upstream_gene_variant MALY-DE 22 41345604 41345604 single base substitution T G upstream_gene_variant MALY-DE 22 41348654 41348654 single base substitution T C intron_variant MALY-DE 22 41350788 41350788 single base substitution C T intron_variant MALY-DE 22 41353724 41353724 single base substitution C T intron_variant MALY-DE 22 41357792 41357793 deletion of <=200bp TG - intron_variant MALY-DE 22 41357792 41357793 deletion of <=200bp TG - upstream_gene_variant MALY-DE 22 41362290 41362290 single base substitution A G downstream_gene_variant MALY-DE 22 41362290 41362290 single base substitution A G exon_variant MALY-DE 22 41362290 41362290 single base substitution A G intron_variant MALY-DE 22 41363984 41363984 single base substitution T C downstream_gene_variant MALY-DE 22 41363984 41363984 single base substitution T C intron_variant MALY-DE 22 41373891 41373891 single base substitution C T downstream_gene_variant MELA-AU 22 41342742 41342742 insertion of <=200bp - T upstream_gene_variant MELA-AU 22 41344128 41344128 single base substitution G A upstream_gene_variant MELA-AU 22 41344460 41344460 single base substitution G A upstream_gene_variant MELA-AU 22 41344699 41344699 single base substitution G A upstream_gene_variant MELA-AU 22 41344782 41344782 single base substitution G A upstream_gene_variant MELA-AU 22 41345177 41345177 single base substitution G A upstream_gene_variant MELA-AU 22 41345496 41345496 single base substitution T C upstream_gene_variant MELA-AU 22 41345505 41345506 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 22 41345506 41345506 single base substitution C T upstream_gene_variant MELA-AU 22 41345609 41345609 single base substitution G A upstream_gene_variant MELA-AU 22 41345662 41345662 single base substitution G A upstream_gene_variant MELA-AU 22 41346293 41346293 single base substitution C T upstream_gene_variant MELA-AU 22 41347398 41347398 single base substitution C T 5_prime_UTR_variant MELA-AU 22 41347398 41347398 single base substitution C T exon_variant MELA-AU 22 41349025 41349025 single base substitution C T intron_variant MELA-AU 22 41351183 41351183 single base substitution C T intron_variant MELA-AU 22 41352327 41352327 single base substitution C T intron_variant MELA-AU 22 41352565 41352565 single base substitution G A intron_variant MELA-AU 22 41352754 41352754 single base substitution C T intron_variant MELA-AU 22 41352779 41352780 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 22 41352804 41352805 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 41352819 41352819 single base substitution C T intron_variant MELA-AU 22 41352993 41352993 single base substitution C T intron_variant MELA-AU 22 41353175 41353175 single base substitution C T intron_variant MELA-AU 22 41353232 41353232 single base substitution C T intron_variant MELA-AU 22 41353429 41353429 single base substitution C T intron_variant MELA-AU 22 41353452 41353452 single base substitution C T intron_variant MELA-AU 22 41353870 41353870 single base substitution C T intron_variant MELA-AU 22 41354735 41354735 single base substitution C T intron_variant MELA-AU 22 41354755 41354755 single base substitution C A intron_variant MELA-AU 22 41355144 41355144 single base substitution C T intron_variant MELA-AU 22 41355479 41355480 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 22 41357540 41357540 single base substitution C T intron_variant MELA-AU 22 41357540 41357540 single base substitution C T upstream_gene_variant MELA-AU 22 41357551 41357551 single base substitution G T intron_variant MELA-AU 22 41357551 41357551 single base substitution G T upstream_gene_variant MELA-AU 22 41357581 41357581 single base substitution C G intron_variant MELA-AU 22 41357581 41357581 single base substitution C G upstream_gene_variant MELA-AU 22 41357880 41357880 single base substitution C T intron_variant MELA-AU 22 41357880 41357880 single base substitution C T upstream_gene_variant MELA-AU 22 41358806 41358807 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 41358806 41358807 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 22 41359179 41359179 single base substitution G A intron_variant MELA-AU 22 41359179 41359179 single base substitution G A upstream_gene_variant MELA-AU 22 41359188 41359188 single base substitution C T intron_variant MELA-AU 22 41359188 41359188 single base substitution C T upstream_gene_variant MELA-AU 22 41359853 41359853 single base substitution C T intron_variant MELA-AU 22 41359853 41359853 single base substitution C T upstream_gene_variant MELA-AU 22 41359910 41359910 single base substitution C T intron_variant MELA-AU 22 41359910 41359910 single base substitution C T upstream_gene_variant MELA-AU 22 41360322 41360322 single base substitution C T exon_variant MELA-AU 22 41360322 41360322 single base substitution C T intron_variant MELA-AU 22 41360322 41360322 single base substitution C T upstream_gene_variant MELA-AU 22 41361468 41361468 single base substitution G A downstream_gene_variant MELA-AU 22 41361468 41361468 single base substitution G A intron_variant MELA-AU 22 41361468 41361468 single base substitution G A upstream_gene_variant MELA-AU 22 41363174 41363174 single base substitution C T downstream_gene_variant MELA-AU 22 41363174 41363174 single base substitution C T exon_variant MELA-AU 22 41363174 41363174 single base substitution C T intron_variant MELA-AU 22 41363318 41363318 single base substitution C T downstream_gene_variant MELA-AU 22 41363318 41363318 single base substitution C T exon_variant MELA-AU 22 41363318 41363318 single base substitution C T intron_variant MELA-AU 22 41363466 41363467 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 22 41363466 41363467 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 22 41363466 41363467 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 41364136 41364136 single base substitution C T downstream_gene_variant MELA-AU 22 41364136 41364136 single base substitution C T intron_variant MELA-AU 22 41364401 41364401 single base substitution C T downstream_gene_variant MELA-AU 22 41364401 41364401 single base substitution C T intron_variant MELA-AU 22 41364557 41364557 single base substitution C T downstream_gene_variant MELA-AU 22 41364557 41364557 single base substitution C T intron_variant MELA-AU 22 41364975 41364975 single base substitution T G downstream_gene_variant MELA-AU 22 41364975 41364975 single base substitution T G intron_variant MELA-AU 22 41365284 41365284 single base substitution C T downstream_gene_variant MELA-AU 22 41365284 41365284 single base substitution C T intron_variant MELA-AU 22 41366047 41366047 single base substitution A G intron_variant MELA-AU 22 41366300 41366300 single base substitution C T intron_variant MELA-AU 22 41366326 41366326 single base substitution G T intron_variant MELA-AU 22 41366481 41366481 single base substitution C T intron_variant MELA-AU 22 41367539 41367539 single base substitution C T intron_variant MELA-AU 22 41367694 41367694 single base substitution G A intron_variant MELA-AU 22 41367862 41367862 single base substitution C T intron_variant MELA-AU 22 41367945 41367945 single base substitution T A intron_variant MELA-AU 22 41369096 41369096 single base substitution C G 3_prime_UTR_variant MELA-AU 22 41369096 41369096 single base substitution C G downstream_gene_variant MELA-AU 22 41369184 41369184 single base substitution C T 3_prime_UTR_variant MELA-AU 22 41369184 41369184 single base substitution C T downstream_gene_variant MELA-AU 22 41369656 41369656 single base substitution C T downstream_gene_variant MELA-AU 22 41369822 41369823 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 22 41369851 41369851 single base substitution G A downstream_gene_variant MELA-AU 22 41370439 41370439 single base substitution C T downstream_gene_variant MELA-AU 22 41370608 41370609 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 22 41371078 41371078 single base substitution C T downstream_gene_variant MELA-AU 22 41371306 41371306 single base substitution G A downstream_gene_variant MELA-AU 22 41371363 41371363 single base substitution C T downstream_gene_variant MELA-AU 22 41372633 41372633 single base substitution C T downstream_gene_variant MELA-AU 22 41373413 41373413 single base substitution G A downstream_gene_variant MELA-AU 22 41373476 41373476 single base substitution G A downstream_gene_variant MELA-AU 22 41373749 41373749 single base substitution G A downstream_gene_variant OV-AU 22 41343051 41343051 single base substitution C G upstream_gene_variant OV-AU 22 41343052 41343052 single base substitution C T upstream_gene_variant OV-AU 22 41343476 41343476 single base substitution G A upstream_gene_variant OV-AU 22 41346642 41346642 single base substitution C T upstream_gene_variant OV-AU 22 41349785 41349785 single base substitution G C intron_variant OV-AU 22 41350877 41350877 single base substitution G A intron_variant OV-AU 22 41354646 41354646 single base substitution A G intron_variant OV-AU 22 41361184 41361184 single base substitution G A downstream_gene_variant OV-AU 22 41361184 41361184 single base substitution G A intron_variant OV-AU 22 41361184 41361184 single base substitution G A upstream_gene_variant OV-AU 22 41369793 41369793 single base substitution A C downstream_gene_variant OV-AU 22 41372426 41372426 single base substitution C A downstream_gene_variant OV-AU 22 41372460 41372460 single base substitution A G downstream_gene_variant PACA-AU 22 41343913 41343913 single base substitution C T upstream_gene_variant PACA-AU 22 41355793 41355793 single base substitution G A intron_variant PACA-AU 22 41364766 41364766 single base substitution T G downstream_gene_variant PACA-AU 22 41364766 41364766 single base substitution T G intron_variant PACA-AU 22 41367494 41367494 single base substitution G C intron_variant PACA-AU 22 41370017 41370017 single base substitution C T downstream_gene_variant PACA-AU 22 41372818 41372818 single base substitution A T downstream_gene_variant PACA-CA 22 41344020 41344020 single base substitution G A upstream_gene_variant PACA-CA 22 41351034 41351034 single base substitution G A intron_variant PACA-CA 22 41353050 41353050 single base substitution A C intron_variant PACA-CA 22 41356479 41356479 single base substitution G A intron_variant PACA-CA 22 41362114 41362114 single base substitution C G downstream_gene_variant PACA-CA 22 41362114 41362114 single base substitution C G intron_variant PACA-CA 22 41362114 41362114 single base substitution C G upstream_gene_variant PACA-CA 22 41364358 41364358 single base substitution G A downstream_gene_variant PACA-CA 22 41364358 41364358 single base substitution G A intron_variant PACA-CA 22 41364852 41364852 deletion of <=200bp C - downstream_gene_variant PACA-CA 22 41364852 41364852 deletion of <=200bp C - intron_variant PACA-CA 22 41364868 41364868 deletion of <=200bp C - downstream_gene_variant PACA-CA 22 41364868 41364868 deletion of <=200bp C - intron_variant PACA-CA 22 41367190 41367190 single base substitution C A intron_variant PACA-CA 22 41369200 41369200 single base substitution G A 3_prime_UTR_variant PACA-CA 22 41369200 41369200 single base substitution G A downstream_gene_variant PACA-CA 22 41372938 41372938 single base substitution G T downstream_gene_variant PACA-CA 22 41374112 41374112 single base substitution C T downstream_gene_variant PAEN-IT 22 41368780 41368780 single base substitution G A 3_prime_UTR_variant PAEN-IT 22 41368780 41368780 single base substitution G A downstream_gene_variant PBCA-DE 22 41343030 41343032 deletion of <=200bp TTA - upstream_gene_variant PBCA-DE 22 41351883 41351883 single base substitution C T intron_variant PBCA-DE 22 41357792 41357793 deletion of <=200bp TG - intron_variant PBCA-DE 22 41357792 41357793 deletion of <=200bp TG - upstream_gene_variant PBCA-DE 22 41360661 41360661 single base substitution A G downstream_gene_variant PBCA-DE 22 41360661 41360661 single base substitution A G intron_variant PBCA-DE 22 41360661 41360661 single base substitution A G upstream_gene_variant PBCA-DE 22 41372805 41372805 insertion of <=200bp - A downstream_gene_variant PRAD-CA 22 41350395 41350395 single base substitution C T intron_variant PRAD-UK 22 41354505 41354505 single base substitution T A intron_variant PRAD-UK 22 41361036 41361036 single base substitution C A downstream_gene_variant PRAD-UK 22 41361036 41361036 single base substitution C A intron_variant PRAD-UK 22 41361036 41361036 single base substitution C A upstream_gene_variant PRAD-UK 22 41364760 41364760 single base substitution T G downstream_gene_variant PRAD-UK 22 41364760 41364760 single base substitution T G intron_variant PRAD-UK 22 41366109 41366109 single base substitution T G intron_variant PRAD-UK 22 41367216 41367216 single base substitution C T intron_variant RECA-EU 22 41350749 41350749 single base substitution T G intron_variant RECA-EU 22 41359227 41359227 single base substitution G A intron_variant RECA-EU 22 41359227 41359227 single base substitution G A upstream_gene_variant SKCA-BR 22 41344280 41344280 single base substitution G T upstream_gene_variant SKCA-BR 22 41344906 41344907 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 22 41346723 41346723 single base substitution G A upstream_gene_variant SKCA-BR 22 41347151 41347161 deletion of <=200bp TCGGCCCCGCC - upstream_gene_variant SKCA-BR 22 41347206 41347206 single base substitution T C upstream_gene_variant SKCA-BR 22 41348522 41348522 single base substitution G A intron_variant SKCA-BR 22 41348540 41348540 single base substitution G C intron_variant SKCA-BR 22 41351810 41351810 single base substitution C T intron_variant SKCA-BR 22 41355697 41355697 single base substitution C T intron_variant SKCA-BR 22 41356327 41356327 single base substitution G A intron_variant SKCA-BR 22 41361966 41361966 single base substitution G A downstream_gene_variant SKCA-BR 22 41361966 41361966 single base substitution G A intron_variant SKCA-BR 22 41361966 41361966 single base substitution G A upstream_gene_variant SKCA-BR 22 41362418 41362418 single base substitution G A downstream_gene_variant SKCA-BR 22 41362418 41362418 single base substitution G A exon_variant SKCA-BR 22 41362418 41362418 single base substitution G A intron_variant SKCA-BR 22 41365205 41365205 single base substitution T C downstream_gene_variant SKCA-BR 22 41365205 41365205 single base substitution T C intron_variant SKCA-BR 22 41369209 41369209 single base substitution T G 3_prime_UTR_variant SKCA-BR 22 41369209 41369209 single base substitution T G downstream_gene_variant SKCA-BR 22 41370414 41370414 insertion of <=200bp - ATT downstream_gene_variant SKCA-BR 22 41370867 41370867 single base substitution T A downstream_gene_variant SKCA-BR 22 41373775 41373775 single base substitution A C downstream_gene_variant STAD-US 22 41360110 41360110 single base substitution G T exon_variant STAD-US 22 41360110 41360110 single base substitution G T stop_gained G73* 217G>T STAD-US 22 41360110 41360110 single base substitution G T upstream_gene_variant UCEC-US 22 41360075 41360075 single base substitution C T exon_variant UCEC-US 22 41360075 41360075 single base substitution C T missense_variant A61V 182C>T UCEC-US 22 41360075 41360075 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 RK140_C01 COSM3701762 c.306A>G p.E102E Substitution - coding silent 22:40967876-40967876 + 24T COSM109404 c.310C>T p.Q104* Substitution - Nonsense 22:40967880-40967880 + TCGA-AX-A0J1-01 COSM1034508 c.182C>T p.A61V Substitution - Missense 22:40964071-40964071 + PDA_093 COSM5003158 c.29C>T p.P10L Substitution - Missense 22:40951427-40951427 + 1N38-VS-1T38 COSM4975157 c.121A>G p.N41D Substitution - Missense 22:40953597-40953597 + TCGA-CD-A4MI-01 COSM4104425 c.217G>T p.G73* Substitution - Nonsense 22:40964106-40964106 + J30_T COSM3964348 c.44G>T p.S15I Substitution - Missense 22:40951442-40951442 + TCGA-AG-3887-01 COSM288569 c.257G>A p.R86H Substitution - Missense 22:40967827-40967827 + SJHGG015_D COSM4969233 c.308T>C p.F103S Substitution - Missense 22:40967878-40967878 + HCC071T COSM5821674 c.13A>G p.M5V Substitution - Missense 22:40951411-40951411 + TCGA-66-2792-01 COSM727035 c.150G>A p.M50I Substitution - Missense 22:40953626-40953626 + TCGA-EK-A3GK-01 COSM4852788 c.81G>C p.W27C Substitution - Missense 22:40953557-40953557 + T368 COSM4720841 c.228+1G>A p.? Unknown 22:40964118-40964118 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.474940;Hs.474949 22q13.2 603814

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.M50V c.148A>G 22 41349628 HNSC C T IntronicSNV . c.228+46C>T 22 41360167 CM C T Missense p.T90I c.269C>T 22 41363843 HNSC G A Missense p.M50I c.150G>A 22 41349630 LUSC G A Missense p.R86H c.257G>A 22 41363831 COREAD G T Synonymous p.A2A c.6G>T 22 41347408 LUAD T G IntronicSNV . c.229-148T>G 22 41363655 HC