Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 9 33886926 33886926 + Silent SNP C C T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr9:33886926C>T c.225C>T c.(223-225)ttC>ttT p.F75F BLCA 9 33912012 33912012 + Missense_Mutation SNP C C G TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr9:33912012C>G c.413C>G c.(412-414)tCc>tGc p.S138C BLCA 9 33917052 33917052 + Missense_Mutation SNP G G C TCGA-GV-A6ZA-01A-12D-A339-08 TCGA-GV-A6ZA-10A-01D-A339-08 g.chr9:33917052G>C c.534G>C c.(532-534)aaG>aaC p.K178N BRCA 9 33900241 33900241 + Missense_Mutation SNP G G A TCGA-AR-A256-01A-11D-A167-09 TCGA-AR-A256-10A-01D-A167-09 g.chr9:33900241G>A c.334G>A c.(334-336)Gaa>Aaa p.E112K COAD 9 33817924 33817924 + Missense_Mutation SNP T T C TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr9:33817924T>C c.169T>C c.(169-171)Tac>Cac p.Y57H COAD 9 33900191 33900191 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr9:33900191C>T c.284C>T c.(283-285)tCg>tTg p.S95L COAD 9 33912043 33912043 + Missense_Mutation SNP C C A TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr9:33912043C>A c.444C>A c.(442-444)ttC>ttA p.F148L COAD 9 33917140 33917140 + Missense_Mutation SNP G G A TCGA-A6-3807-01A-01W-0995-10 TCGA-A6-3807-11A-01W-0995-10 g.chr9:33917140G>A c.622G>A c.(622-624)Gac>Aac p.D208N COADREAD 9 33817924 33817924 + Missense_Mutation SNP T T C TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr9:33817924T>C c.169T>C c.(169-171)Tac>Cac p.Y57H COADREAD 9 33900191 33900191 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr9:33900191C>T c.284C>T c.(283-285)tCg>tTg p.S95L COADREAD 9 33912043 33912043 + Missense_Mutation SNP C C A TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr9:33912043C>A c.444C>A c.(442-444)ttC>ttA p.F148L COADREAD 9 33917140 33917140 + Missense_Mutation SNP G G A TCGA-A6-3807-01A-01W-0995-10 TCGA-A6-3807-11A-01W-0995-10 g.chr9:33917140G>A c.622G>A c.(622-624)Gac>Aac p.D208N DLBC 9 33900200 33900200 + Missense_Mutation SNP A A T TCGA-GS-A9U4-01A-11D-A38X-10 TCGA-GS-A9U4-10A-01D-A38X-10 g.chr9:33900200A>T c.293A>T c.(292-294)cAt>cTt p.H98L HNSC 9 33900204 33900204 + Silent SNP G G T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 g.chr9:33900204G>T c.297G>T c.(295-297)ccG>ccT p.P99P HNSC 9 33911983 33911983 + Missense_Mutation SNP C C G TCGA-CN-A49B-01A-31D-A24D-08 TCGA-CN-A49B-10A-01D-A24F-08 g.chr9:33911983C>G c.384C>G c.(382-384)atC>atG p.I128M HNSC 9 33912052 33912053 + Frame_Shift_Del DEL GA GA - TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr9:33912052_33912053delGA c.453_454delGA c.(451-456)tggagafs p.R152fs HNSC 9 33917126 33917126 + Nonsense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 g.chr9:33917126C>G c.608C>G c.(607-609)tCa>tGa p.S203* KIPAN 9 33817901 33817901 + Missense_Mutation SNP C C T TCGA-AK-3458-01A-01D-1501-10 TCGA-AK-3458-10A-01D-1501-10 g.chr9:33817901C>T c.146C>T c.(145-147)cCc>cTc p.P49L KIRC 9 33817901 33817901 + Missense_Mutation SNP C C T TCGA-AK-3458-01A-01D-1501-10 TCGA-AK-3458-10A-01D-1501-10 g.chr9:33817901C>T c.146C>T c.(145-147)cCc>cTc p.P49L LAML 9 33917176 33917178 + In_Frame_Del DEL GAG GAG - TCGA-AB-2932-03A-01W-0745-08 TCGA-AB-2932-11A-01W-0745-08 g.chr9:33917176_33917178delGAG c.658_660delGAG c.(658-660)gagdel p.E223del LUAD 9 33917170 33917170 + Missense_Mutation SNP G G A TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr9:33917170G>A c.652G>A c.(652-654)Gaa>Aaa p.E218K LUSC 9 33900199 33900199 + Missense_Mutation SNP C C T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr9:33900199C>T c.292C>T c.(292-294)Cat>Tat p.H98Y SKCM 9 33886894 33886894 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr9:33886894C>T c.193C>T c.(193-195)Cct>Tct p.P65S SKCM 9 33912014 33912014 + Missense_Mutation SNP C C G TCGA-EE-A2GT-06A-12D-A197-08 TCGA-EE-A2GT-10A-01D-A199-08 g.chr9:33912014C>G c.415C>G c.(415-417)Cca>Gca p.P139A

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 9 33923861 33923861 single base substitution A G downstream_gene_variant BOCA-FR 9 33923611 33923611 single base substitution C T downstream_gene_variant BRCA-EU 9 33813203 33813203 single base substitution T G upstream_gene_variant BRCA-EU 9 33815509 33815509 single base substitution G C upstream_gene_variant BRCA-EU 9 33815552 33815552 single base substitution C T upstream_gene_variant BRCA-EU 9 33817088 33817088 single base substitution C T upstream_gene_variant BRCA-EU 9 33818024 33818024 single base substitution C T intron_variant BRCA-EU 9 33818545 33818545 insertion of <=200bp - AC intron_variant BRCA-EU 9 33818973 33818973 single base substitution C A intron_variant BRCA-EU 9 33820300 33820300 single base substitution A G intron_variant BRCA-EU 9 33820417 33820417 single base substitution C T intron_variant BRCA-EU 9 33820731 33820731 single base substitution G C intron_variant BRCA-EU 9 33823681 33823681 single base substitution T A intron_variant BRCA-EU 9 33824915 33824915 deletion of <=200bp T - intron_variant BRCA-EU 9 33827079 33827079 single base substitution G A intron_variant BRCA-EU 9 33827146 33827146 single base substitution T A intron_variant BRCA-EU 9 33827650 33827650 single base substitution T A intron_variant BRCA-EU 9 33827741 33827741 single base substitution G T intron_variant BRCA-EU 9 33827948 33827948 single base substitution G A intron_variant BRCA-EU 9 33828296 33828296 single base substitution T A intron_variant BRCA-EU 9 33830562 33830562 single base substitution C T intron_variant BRCA-EU 9 33830962 33830962 single base substitution G C intron_variant BRCA-EU 9 33831682 33831682 single base substitution G C intron_variant BRCA-EU 9 33832831 33832831 deletion of <=200bp T - intron_variant BRCA-EU 9 33833268 33833268 single base substitution T C intron_variant BRCA-EU 9 33833353 33833353 single base substitution G A intron_variant BRCA-EU 9 33833828 33833828 single base substitution A G intron_variant BRCA-EU 9 33835243 33835243 single base substitution C G intron_variant BRCA-EU 9 33837607 33837607 single base substitution A T intron_variant BRCA-EU 9 33838422 33838422 single base substitution G C intron_variant BRCA-EU 9 33838517 33838517 single base substitution A T intron_variant BRCA-EU 9 33838686 33838686 single base substitution G A intron_variant BRCA-EU 9 33839027 33839027 single base substitution C T intron_variant BRCA-EU 9 33839195 33839195 single base substitution G A intron_variant BRCA-EU 9 33840205 33840205 single base substitution C T intron_variant BRCA-EU 9 33840635 33840635 insertion of <=200bp - T intron_variant BRCA-EU 9 33841127 33841127 single base substitution C G intron_variant BRCA-EU 9 33841445 33841445 single base substitution T G intron_variant BRCA-EU 9 33841586 33841586 single base substitution C T intron_variant BRCA-EU 9 33841671 33841671 single base substitution C T intron_variant BRCA-EU 9 33842199 33842199 single base substitution A G intron_variant BRCA-EU 9 33842673 33842673 single base substitution G C intron_variant BRCA-EU 9 33842805 33842805 single base substitution G A intron_variant BRCA-EU 9 33843715 33843715 single base substitution G T intron_variant BRCA-EU 9 33843813 33843813 single base substitution A G intron_variant BRCA-EU 9 33844892 33844892 single base substitution G A intron_variant BRCA-EU 9 33845795 33845795 single base substitution C G intron_variant BRCA-EU 9 33846213 33846213 single base substitution G A intron_variant BRCA-EU 9 33847013 33847013 single base substitution T G intron_variant BRCA-EU 9 33847917 33847917 deletion of <=200bp T - intron_variant BRCA-EU 9 33848222 33848222 single base substitution C G intron_variant BRCA-EU 9 33848342 33848342 single base substitution T G intron_variant BRCA-EU 9 33848789 33848789 single base substitution G T intron_variant BRCA-EU 9 33852622 33852622 single base substitution T A intron_variant BRCA-EU 9 33853149 33853149 single base substitution T C intron_variant BRCA-EU 9 33853867 33853867 single base substitution A T intron_variant BRCA-EU 9 33854493 33854493 deletion of <=200bp T - intron_variant BRCA-EU 9 33856007 33856007 single base substitution G C intron_variant BRCA-EU 9 33856390 33856390 single base substitution C A intron_variant BRCA-EU 9 33859938 33859938 single base substitution G A intron_variant BRCA-EU 9 33861484 33861484 single base substitution G A intron_variant BRCA-EU 9 33861996 33861996 single base substitution C T intron_variant BRCA-EU 9 33863787 33863787 single base substitution T A intron_variant BRCA-EU 9 33865050 33865072 deletion of <=200bp GGTCTTGACATGTTGCCCAGGCT - intron_variant BRCA-EU 9 33868455 33868477 deletion of <=200bp ACATACTATTATTGAACATTTTA - intron_variant BRCA-EU 9 33868495 33868495 single base substitution G C intron_variant BRCA-EU 9 33868879 33868879 single base substitution T C intron_variant BRCA-EU 9 33869961 33869961 single base substitution C T intron_variant BRCA-EU 9 33871885 33871885 deletion of <=200bp T - intron_variant BRCA-EU 9 33873818 33873818 single base substitution G A intron_variant BRCA-EU 9 33874726 33874726 single base substitution A T intron_variant BRCA-EU 9 33876559 33876559 single base substitution C G intron_variant BRCA-EU 9 33877975 33877975 single base substitution G C intron_variant BRCA-EU 9 33880081 33880081 single base substitution A G intron_variant BRCA-EU 9 33880532 33880532 single base substitution C T intron_variant BRCA-EU 9 33883640 33883640 single base substitution G A intron_variant BRCA-EU 9 33884479 33884479 single base substitution C G intron_variant BRCA-EU 9 33887334 33887334 single base substitution A G intron_variant BRCA-EU 9 33888094 33888094 single base substitution A G intron_variant BRCA-EU 9 33889626 33889626 single base substitution G C intron_variant BRCA-EU 9 33890881 33890881 single base substitution C A intron_variant BRCA-EU 9 33891185 33891185 single base substitution T G intron_variant BRCA-EU 9 33891404 33891404 single base substitution G A intron_variant BRCA-EU 9 33892279 33892279 single base substitution T G intron_variant BRCA-EU 9 33894082 33894083 deletion of <=200bp GT - intron_variant BRCA-EU 9 33894442 33894442 single base substitution C T intron_variant BRCA-EU 9 33894608 33894608 insertion of <=200bp - G intron_variant BRCA-EU 9 33895367 33895367 single base substitution G C intron_variant BRCA-EU 9 33895918 33895918 single base substitution G A intron_variant BRCA-EU 9 33896480 33896480 single base substitution G A intron_variant BRCA-EU 9 33896887 33896887 single base substitution T G intron_variant BRCA-EU 9 33897224 33897224 single base substitution C T intron_variant BRCA-EU 9 33897898 33897898 single base substitution C T intron_variant BRCA-EU 9 33898266 33898266 single base substitution G C intron_variant BRCA-EU 9 33898453 33898453 single base substitution A G intron_variant BRCA-EU 9 33898606 33898606 single base substitution T G intron_variant BRCA-EU 9 33898610 33898610 single base substitution T C intron_variant BRCA-EU 9 33899208 33899208 single base substitution T C intron_variant BRCA-EU 9 33899397 33899397 single base substitution G A intron_variant BRCA-EU 9 33900751 33900751 single base substitution G C intron_variant BRCA-EU 9 33903200 33903200 single base substitution A G intron_variant BRCA-EU 9 33903922 33903922 single base substitution T C intron_variant BRCA-EU 9 33904047 33904047 single base substitution C T intron_variant BRCA-EU 9 33904992 33904992 single base substitution G C intron_variant BRCA-EU 9 33905052 33905052 single base substitution G C intron_variant BRCA-EU 9 33905563 33905563 single base substitution C G intron_variant BRCA-EU 9 33906902 33906902 single base substitution A C intron_variant BRCA-EU 9 33907538 33907538 single base substitution G T intron_variant BRCA-EU 9 33907711 33907711 single base substitution C G intron_variant BRCA-EU 9 33907805 33907805 single base substitution G C intron_variant BRCA-EU 9 33909514 33909514 single base substitution C T intron_variant BRCA-EU 9 33909583 33909583 single base substitution A G intron_variant BRCA-EU 9 33912541 33912541 single base substitution G A intron_variant BRCA-EU 9 33919714 33919714 single base substitution G C 3_prime_UTR_variant BRCA-EU 9 33920159 33920159 single base substitution T C 3_prime_UTR_variant BRCA-EU 9 33922084 33922084 single base substitution G C downstream_gene_variant BRCA-EU 9 33922298 33922298 insertion of <=200bp - CC downstream_gene_variant BRCA-EU 9 33922298 33922298 insertion of <=200bp - C downstream_gene_variant BRCA-EU 9 33923952 33923952 single base substitution G A downstream_gene_variant BRCA-EU 9 33924386 33924386 single base substitution T G downstream_gene_variant BRCA-EU 9 33924471 33924471 single base substitution A G downstream_gene_variant BRCA-EU 9 33924786 33924786 single base substitution G A downstream_gene_variant BRCA-FR 9 33818218 33818218 single base substitution T C intron_variant BRCA-FR 9 33820417 33820417 single base substitution C T intron_variant BRCA-FR 9 33821322 33821322 single base substitution T C intron_variant BRCA-FR 9 33827146 33827146 single base substitution T A intron_variant BRCA-FR 9 33833828 33833828 single base substitution A G intron_variant BRCA-FR 9 33838422 33838422 single base substitution G C intron_variant BRCA-FR 9 33838686 33838686 single base substitution G A intron_variant BRCA-FR 9 33842673 33842673 single base substitution G C intron_variant BRCA-FR 9 33843715 33843715 single base substitution G T intron_variant BRCA-FR 9 33873818 33873818 single base substitution G A intron_variant BRCA-FR 9 33889626 33889626 single base substitution G C intron_variant BRCA-FR 9 33899397 33899397 single base substitution G A intron_variant BRCA-FR 9 33907805 33907805 single base substitution G C intron_variant BRCA-FR 9 33919714 33919714 single base substitution G C 3_prime_UTR_variant BRCA-FR 9 33923351 33923351 single base substitution G A downstream_gene_variant BRCA-FR 9 33924471 33924471 single base substitution A G downstream_gene_variant BRCA-UK 9 33848342 33848342 single base substitution T G intron_variant BRCA-UK 9 33892279 33892279 single base substitution T G intron_variant BRCA-US 9 33900241 33900241 single base substitution G A missense_variant E112K 334G>A BRCA-US 9 33922571 33922571 deletion of <=200bp G - downstream_gene_variant BRCA-US 9 33923840 33923840 insertion of <=200bp - GGG downstream_gene_variant BRCA-US 9 33923949 33923949 single base substitution A C downstream_gene_variant BRCA-US 9 33923997 33923997 single base substitution A C downstream_gene_variant BTCA-JP 9 33922987 33922987 single base substitution C G downstream_gene_variant BTCA-JP 9 33924419 33924419 single base substitution C T downstream_gene_variant CESC-US 9 33922521 33922521 single base substitution G A downstream_gene_variant CESC-US 9 33922757 33922757 single base substitution G C downstream_gene_variant CLLE-ES 9 33823353 33823353 single base substitution A G intron_variant CLLE-ES 9 33830139 33830139 single base substitution G T intron_variant CLLE-ES 9 33843318 33843318 single base substitution A T intron_variant CLLE-ES 9 33851899 33851899 single base substitution A G intron_variant CLLE-ES 9 33865182 33865182 single base substitution G C intron_variant CLLE-ES 9 33917499 33917499 single base substitution A G 3_prime_UTR_variant COAD-US 9 33912043 33912043 single base substitution C A missense_variant F148L 444C>A COAD-US 9 33923015 33923015 single base substitution T A downstream_gene_variant COAD-US 9 33923251 33923251 single base substitution G A downstream_gene_variant COCA-CN 9 33817855 33817855 single base substitution G T missense_variant D34Y 100G>T COCA-CN 9 33818257 33818257 single base substitution T C intron_variant COCA-CN 9 33828720 33828720 single base substitution C T intron_variant COCA-CN 9 33830769 33830769 single base substitution G A intron_variant COCA-CN 9 33832604 33832604 single base substitution C T intron_variant COCA-CN 9 33836766 33836766 single base substitution A T intron_variant COCA-CN 9 33843625 33843625 single base substitution C T intron_variant COCA-CN 9 33851257 33851257 single base substitution G C intron_variant COCA-CN 9 33859795 33859795 single base substitution T A intron_variant COCA-CN 9 33859801 33859801 single base substitution A T intron_variant COCA-CN 9 33860892 33860892 single base substitution A C intron_variant COCA-CN 9 33865256 33865256 single base substitution G A intron_variant COCA-CN 9 33886797 33886797 single base substitution G A intron_variant COCA-CN 9 33912077 33912077 single base substitution G T stop_gained E160* 478G>T COCA-CN 9 33914822 33914822 single base substitution G A intron_variant COCA-CN 9 33923225 33923225 single base substitution G A downstream_gene_variant COCA-CN 9 33923389 33923389 single base substitution C T downstream_gene_variant EOPC-DE 9 33820981 33820981 single base substitution G T intron_variant EOPC-DE 9 33899466 33899466 single base substitution A G intron_variant ESAD-UK 9 33814054 33814054 single base substitution G T upstream_gene_variant ESAD-UK 9 33814132 33814132 single base substitution A G upstream_gene_variant ESAD-UK 9 33815251 33815251 single base substitution C T upstream_gene_variant ESAD-UK 9 33815987 33815987 single base substitution G C upstream_gene_variant ESAD-UK 9 33818900 33818900 single base substitution G A intron_variant ESAD-UK 9 33821454 33821454 single base substitution C T intron_variant ESAD-UK 9 33821763 33821763 single base substitution G A intron_variant ESAD-UK 9 33821994 33821994 single base substitution A T intron_variant ESAD-UK 9 33823673 33823673 single base substitution T A intron_variant ESAD-UK 9 33828481 33828481 single base substitution G A intron_variant ESAD-UK 9 33830481 33830489 deletion of <=200bp CTGATTGGA - intron_variant ESAD-UK 9 33830814 33830814 single base substitution G T intron_variant ESAD-UK 9 33834429 33834429 single base substitution C T intron_variant ESAD-UK 9 33836140 33836140 insertion of <=200bp - A intron_variant ESAD-UK 9 33836764 33836764 single base substitution A T intron_variant ESAD-UK 9 33836765 33836765 single base substitution A T intron_variant ESAD-UK 9 33836851 33836851 single base substitution T C intron_variant ESAD-UK 9 33837204 33837204 single base substitution T A intron_variant ESAD-UK 9 33840736 33840736 single base substitution A T intron_variant ESAD-UK 9 33841354 33841354 single base substitution G A intron_variant ESAD-UK 9 33842208 33842208 single base substitution A G intron_variant ESAD-UK 9 33843561 33843561 single base substitution C G intron_variant ESAD-UK 9 33848900 33848900 single base substitution C G intron_variant ESAD-UK 9 33850024 33850024 single base substitution C A intron_variant ESAD-UK 9 33850665 33850665 single base substitution T A intron_variant ESAD-UK 9 33853611 33853611 single base substitution A G intron_variant ESAD-UK 9 33854356 33854356 single base substitution C T intron_variant ESAD-UK 9 33854508 33854508 single base substitution C T intron_variant ESAD-UK 9 33856527 33856527 single base substitution C G intron_variant ESAD-UK 9 33857141 33857141 single base substitution G A intron_variant ESAD-UK 9 33866276 33866276 single base substitution A T intron_variant ESAD-UK 9 33867057 33867057 single base substitution G T intron_variant ESAD-UK 9 33867561 33867561 single base substitution C T intron_variant ESAD-UK 9 33874390 33874392 deletion of <=200bp TTA - intron_variant ESAD-UK 9 33877082 33877082 single base substitution C G intron_variant ESAD-UK 9 33879046 33879046 single base substitution C T intron_variant ESAD-UK 9 33880388 33880388 single base substitution T C intron_variant ESAD-UK 9 33881726 33881729 deletion of <=200bp CTTA - intron_variant ESAD-UK 9 33883916 33883916 single base substitution T A intron_variant ESAD-UK 9 33884473 33884473 single base substitution C T intron_variant ESAD-UK 9 33886802 33886802 single base substitution G A intron_variant ESAD-UK 9 33889555 33889555 single base substitution T C intron_variant ESAD-UK 9 33889866 33889866 single base substitution G T intron_variant ESAD-UK 9 33889867 33889867 single base substitution A T intron_variant ESAD-UK 9 33889868 33889868 single base substitution G T intron_variant ESAD-UK 9 33890195 33890195 single base substitution A T intron_variant ESAD-UK 9 33893433 33893433 single base substitution G A intron_variant ESAD-UK 9 33894369 33894369 single base substitution C A intron_variant ESAD-UK 9 33896025 33896025 insertion of <=200bp - C intron_variant ESAD-UK 9 33898176 33898176 single base substitution C T intron_variant ESAD-UK 9 33898266 33898266 single base substitution G A intron_variant ESAD-UK 9 33899027 33899027 single base substitution G T intron_variant ESAD-UK 9 33899378 33899378 deletion of <=200bp T - intron_variant ESAD-UK 9 33899381 33899381 single base substitution T A intron_variant ESAD-UK 9 33902223 33902223 insertion of <=200bp - T intron_variant ESAD-UK 9 33905618 33905618 single base substitution G C intron_variant ESAD-UK 9 33907000 33907000 single base substitution G T intron_variant ESAD-UK 9 33907581 33907581 single base substitution G A intron_variant ESAD-UK 9 33908113 33908113 single base substitution G A intron_variant ESAD-UK 9 33911753 33911753 single base substitution T A intron_variant ESAD-UK 9 33912308 33912308 single base substitution C T intron_variant ESAD-UK 9 33917138 33917140 deletion of <=200bp ACG - inframe_deletion YD207Y ESAD-UK 9 33918072 33918072 single base substitution C T 3_prime_UTR_variant ESAD-UK 9 33919678 33919678 single base substitution T G 3_prime_UTR_variant ESAD-UK 9 33920731 33920731 single base substitution G C downstream_gene_variant ESAD-UK 9 33921316 33921316 single base substitution G A downstream_gene_variant ESCA-CN 9 33817617 33817617 single base substitution T C 5_prime_UTR_variant GBM-US 9 33923830 33923830 single base substitution C T downstream_gene_variant KIRC-US 9 33817901 33817901 single base substitution C T missense_variant P49L 146C>T KIRP-US 9 33900238 33900238 single base substitution T A missense_variant S111T 331T>A LAML-KR 9 33832387 33832387 single base substitution G C intron_variant LAML-KR 9 33897791 33897791 single base substitution G T intron_variant LICA-FR 9 33817798 33817798 single base substitution C A missense_variant L15I 43C>A LICA-FR 9 33819881 33819881 single base substitution C T intron_variant LICA-FR 9 33851173 33851173 deletion of <=200bp A - intron_variant LICA-FR 9 33871633 33871633 single base substitution C A intron_variant LICA-FR 9 33877179 33877181 deletion of <=200bp TTT - intron_variant LICA-FR 9 33897774 33897774 insertion of <=200bp - T intron_variant LICA-FR 9 33909009 33909009 insertion of <=200bp - TAAATAAA intron_variant LINC-JP 9 33820329 33820329 single base substitution A T intron_variant LINC-JP 9 33823735 33823735 single base substitution T C intron_variant LINC-JP 9 33830768 33830768 single base substitution G A intron_variant LINC-JP 9 33836764 33836764 single base substitution A T intron_variant LINC-JP 9 33846917 33846917 single base substitution T C intron_variant LINC-JP 9 33863415 33863415 single base substitution C T intron_variant LINC-JP 9 33865194 33865194 single base substitution A C intron_variant LINC-JP 9 33869282 33869282 deletion of <=200bp T - intron_variant LINC-JP 9 33881325 33881325 single base substitution A G intron_variant LINC-JP 9 33884196 33884196 single base substitution A C intron_variant LINC-JP 9 33890891 33890891 single base substitution T G intron_variant LINC-JP 9 33891029 33891029 single base substitution T G intron_variant LINC-JP 9 33899907 33899907 single base substitution A C intron_variant LINC-JP 9 33906819 33906819 single base substitution G A intron_variant LIRI-JP 9 33813237 33813237 single base substitution A T upstream_gene_variant LIRI-JP 9 33815019 33815019 single base substitution T C upstream_gene_variant LIRI-JP 9 33818825 33818825 single base substitution A G intron_variant LIRI-JP 9 33820176 33820176 single base substitution A C intron_variant LIRI-JP 9 33820654 33820654 single base substitution T C intron_variant LIRI-JP 9 33821999 33821999 single base substitution C T intron_variant LIRI-JP 9 33824321 33824321 single base substitution C G intron_variant LIRI-JP 9 33826997 33826997 single base substitution C G intron_variant LIRI-JP 9 33831760 33831760 single base substitution C T intron_variant LIRI-JP 9 33833858 33833858 single base substitution A G intron_variant LIRI-JP 9 33836539 33836539 single base substitution A C intron_variant LIRI-JP 9 33836862 33836862 single base substitution A T intron_variant LIRI-JP 9 33839327 33839327 single base substitution C T intron_variant LIRI-JP 9 33840238 33840238 single base substitution A T intron_variant LIRI-JP 9 33840522 33840522 single base substitution T G intron_variant LIRI-JP 9 33841525 33841525 single base substitution A G intron_variant LIRI-JP 9 33842740 33842740 single base substitution T A intron_variant LIRI-JP 9 33842893 33842893 single base substitution C T intron_variant LIRI-JP 9 33843316 33843316 single base substitution G A intron_variant LIRI-JP 9 33846296 33846296 single base substitution A G intron_variant LIRI-JP 9 33846949 33846949 single base substitution A G intron_variant LIRI-JP 9 33849902 33849902 single base substitution C T intron_variant LIRI-JP 9 33850459 33850459 single base substitution T A intron_variant LIRI-JP 9 33850460 33850460 single base substitution C A intron_variant LIRI-JP 9 33850692 33850692 single base substitution A G intron_variant LIRI-JP 9 33851860 33851860 insertion of <=200bp - AA intron_variant LIRI-JP 9 33852376 33852376 single base substitution A G intron_variant LIRI-JP 9 33855596 33855596 single base substitution G A intron_variant LIRI-JP 9 33857309 33857309 single base substitution T G intron_variant LIRI-JP 9 33858575 33858575 single base substitution A G intron_variant LIRI-JP 9 33860484 33860484 single base substitution A G intron_variant LIRI-JP 9 33860587 33860587 single base substitution G A intron_variant LIRI-JP 9 33860820 33860820 single base substitution A T intron_variant LIRI-JP 9 33860821 33860821 single base substitution G T intron_variant LIRI-JP 9 33861996 33861996 single base substitution C T intron_variant LIRI-JP 9 33862708 33862708 single base substitution G A intron_variant LIRI-JP 9 33863001 33863001 single base substitution A G intron_variant LIRI-JP 9 33864508 33864508 deletion of <=200bp T - intron_variant LIRI-JP 9 33866206 33866206 single base substitution A G intron_variant LIRI-JP 9 33868807 33868807 single base substitution A C intron_variant LIRI-JP 9 33869182 33869182 single base substitution G T intron_variant LIRI-JP 9 33871490 33871490 single base substitution A G intron_variant LIRI-JP 9 33871690 33871690 single base substitution G A intron_variant LIRI-JP 9 33873681 33873681 single base substitution C G intron_variant LIRI-JP 9 33873742 33873742 single base substitution G A intron_variant LIRI-JP 9 33875703 33875703 single base substitution A C intron_variant LIRI-JP 9 33880675 33880675 single base substitution C G intron_variant LIRI-JP 9 33881482 33881482 single base substitution A G intron_variant LIRI-JP 9 33882310 33882310 single base substitution A G intron_variant LIRI-JP 9 33883681 33883681 single base substitution C G intron_variant LIRI-JP 9 33884544 33884544 single base substitution G A intron_variant LIRI-JP 9 33884933 33884933 single base substitution A G intron_variant LIRI-JP 9 33885263 33885263 single base substitution A G intron_variant LIRI-JP 9 33889220 33889220 single base substitution A C intron_variant LIRI-JP 9 33892773 33892773 single base substitution A G intron_variant LIRI-JP 9 33895289 33895289 single base substitution A G intron_variant LIRI-JP 9 33896394 33896394 single base substitution T C intron_variant LIRI-JP 9 33897640 33897640 single base substitution C A intron_variant LIRI-JP 9 33899976 33899976 single base substitution C T intron_variant LIRI-JP 9 33900705 33900705 single base substitution A G intron_variant LIRI-JP 9 33901566 33901566 single base substitution A G intron_variant LIRI-JP 9 33905867 33905867 single base substitution G A intron_variant LIRI-JP 9 33905975 33905975 single base substitution A G intron_variant LIRI-JP 9 33906177 33906177 single base substitution A G intron_variant LIRI-JP 9 33908584 33908584 single base substitution A C intron_variant LIRI-JP 9 33909298 33909298 single base substitution A G intron_variant LIRI-JP 9 33909764 33909764 single base substitution T G intron_variant LIRI-JP 9 33909792 33909792 single base substitution T G intron_variant LIRI-JP 9 33910889 33910889 single base substitution C T intron_variant LIRI-JP 9 33914052 33914052 single base substitution A T intron_variant LIRI-JP 9 33914700 33914700 single base substitution C G intron_variant LIRI-JP 9 33918288 33918288 single base substitution T C 3_prime_UTR_variant LIRI-JP 9 33918881 33918881 insertion of <=200bp - T 3_prime_UTR_variant LIRI-JP 9 33923731 33923731 insertion of <=200bp - AA downstream_gene_variant LIRI-JP 9 33923860 33923860 single base substitution T C downstream_gene_variant LUSC-KR 9 33812790 33812790 single base substitution C T upstream_gene_variant LUSC-KR 9 33818350 33818350 single base substitution G T intron_variant LUSC-KR 9 33819655 33819655 single base substitution G T intron_variant LUSC-KR 9 33832565 33832565 single base substitution G C intron_variant LUSC-KR 9 33836797 33836797 single base substitution G T intron_variant LUSC-KR 9 33846354 33846354 single base substitution G T intron_variant LUSC-KR 9 33847817 33847817 single base substitution C G intron_variant LUSC-KR 9 33851133 33851133 single base substitution G C intron_variant LUSC-KR 9 33852599 33852599 single base substitution A G intron_variant LUSC-KR 9 33853273 33853273 single base substitution A T intron_variant LUSC-KR 9 33859799 33859799 single base substitution A T intron_variant LUSC-KR 9 33860901 33860901 single base substitution A C intron_variant LUSC-KR 9 33862072 33862072 single base substitution C T intron_variant LUSC-KR 9 33877825 33877825 single base substitution C G intron_variant LUSC-KR 9 33882524 33882524 single base substitution A C intron_variant LUSC-KR 9 33883902 33883902 single base substitution G T intron_variant LUSC-KR 9 33884262 33884262 single base substitution A C intron_variant LUSC-KR 9 33886827 33886827 single base substitution G A intron_variant LUSC-KR 9 33888725 33888725 single base substitution G C intron_variant LUSC-KR 9 33889105 33889105 single base substitution G T intron_variant LUSC-KR 9 33897144 33897144 single base substitution C T intron_variant LUSC-KR 9 33908187 33908187 single base substitution T G intron_variant LUSC-KR 9 33918980 33918980 single base substitution A G 3_prime_UTR_variant LUSC-KR 9 33921643 33921643 single base substitution G C downstream_gene_variant LUSC-KR 9 33923297 33923297 single base substitution G A downstream_gene_variant LUSC-US 9 33900199 33900199 single base substitution C T missense_variant H98Y 292C>T LUSC-US 9 33923422 33923422 single base substitution G T downstream_gene_variant MALY-DE 9 33818226 33818226 single base substitution C T intron_variant MALY-DE 9 33822089 33822089 single base substitution T C intron_variant MALY-DE 9 33822593 33822593 deletion of <=200bp A - intron_variant MALY-DE 9 33834295 33834295 single base substitution T C intron_variant MALY-DE 9 33849116 33849116 single base substitution G A intron_variant MALY-DE 9 33856873 33856873 single base substitution T A intron_variant MALY-DE 9 33862681 33862681 single base substitution T G intron_variant MALY-DE 9 33863208 33863208 single base substitution A G intron_variant MALY-DE 9 33864447 33864447 single base substitution T C intron_variant MALY-DE 9 33864500 33864500 single base substitution T A intron_variant MALY-DE 9 33866804 33866804 single base substitution A T intron_variant MALY-DE 9 33871868 33871868 single base substitution A G intron_variant MALY-DE 9 33872251 33872251 single base substitution C T intron_variant MALY-DE 9 33872400 33872400 single base substitution A T intron_variant MALY-DE 9 33872425 33872425 single base substitution A G intron_variant MALY-DE 9 33880234 33880234 single base substitution G A intron_variant MALY-DE 9 33891649 33891652 deletion of <=200bp AAAT - intron_variant MALY-DE 9 33897690 33897690 single base substitution C G intron_variant MALY-DE 9 33899531 33899531 single base substitution C G intron_variant MALY-DE 9 33907075 33907075 single base substitution A T intron_variant MALY-DE 9 33910258 33910260 deletion of <=200bp TGT - intron_variant MALY-DE 9 33912357 33912357 insertion of <=200bp - CA intron_variant MALY-DE 9 33913768 33913768 single base substitution A T intron_variant MALY-DE 9 33914170 33914170 single base substitution T C intron_variant MALY-DE 9 33916569 33916569 single base substitution A C intron_variant MALY-DE 9 33924769 33924769 single base substitution C T downstream_gene_variant MELA-AU 9 33813085 33813085 single base substitution C T upstream_gene_variant MELA-AU 9 33813217 33813217 single base substitution A T upstream_gene_variant MELA-AU 9 33813869 33813869 single base substitution G A upstream_gene_variant MELA-AU 9 33814017 33814017 single base substitution G A upstream_gene_variant MELA-AU 9 33815228 33815228 single base substitution G A upstream_gene_variant MELA-AU 9 33816063 33816064 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 9 33820441 33820441 single base substitution C T intron_variant MELA-AU 9 33821170 33821170 single base substitution T A intron_variant MELA-AU 9 33821753 33821753 single base substitution A G intron_variant MELA-AU 9 33822347 33822347 single base substitution C A intron_variant MELA-AU 9 33822347 33822347 single base substitution C T intron_variant MELA-AU 9 33822543 33822544 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 33822645 33822645 single base substitution A G intron_variant MELA-AU 9 33823277 33823277 single base substitution C T intron_variant MELA-AU 9 33823465 33823465 single base substitution C T intron_variant MELA-AU 9 33823619 33823620 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 33824904 33824904 single base substitution C T intron_variant MELA-AU 9 33825467 33825467 single base substitution G A intron_variant MELA-AU 9 33826163 33826163 single base substitution C T intron_variant MELA-AU 9 33826690 33826690 single base substitution C T intron_variant MELA-AU 9 33826964 33826964 single base substitution C T intron_variant MELA-AU 9 33827205 33827205 single base substitution C T intron_variant MELA-AU 9 33827521 33827521 single base substitution C T intron_variant MELA-AU 9 33827523 33827523 single base substitution C T intron_variant MELA-AU 9 33827614 33827614 single base substitution G A intron_variant MELA-AU 9 33827709 33827709 single base substitution C T intron_variant MELA-AU 9 33829916 33829916 single base substitution C T intron_variant MELA-AU 9 33829940 33829940 single base substitution C T intron_variant MELA-AU 9 33830021 33830021 single base substitution C T intron_variant MELA-AU 9 33830037 33830037 single base substitution C T intron_variant MELA-AU 9 33830579 33830579 single base substitution A G intron_variant MELA-AU 9 33830594 33830594 single base substitution C T intron_variant MELA-AU 9 33831116 33831116 single base substitution A G intron_variant MELA-AU 9 33832964 33832964 single base substitution T G intron_variant MELA-AU 9 33833046 33833046 single base substitution C T intron_variant MELA-AU 9 33833703 33833703 single base substitution C T intron_variant MELA-AU 9 33833802 33833802 single base substitution C T intron_variant MELA-AU 9 33834289 33834290 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 33834480 33834480 single base substitution G A intron_variant MELA-AU 9 33834568 33834568 single base substitution T C intron_variant MELA-AU 9 33835378 33835378 single base substitution G A intron_variant MELA-AU 9 33835873 33835873 single base substitution C T intron_variant MELA-AU 9 33836014 33836014 single base substitution T A intron_variant MELA-AU 9 33837154 33837154 single base substitution C T intron_variant MELA-AU 9 33837610 33837610 single base substitution G A intron_variant MELA-AU 9 33838332 33838332 single base substitution G A intron_variant MELA-AU 9 33838802 33838802 single base substitution C T intron_variant MELA-AU 9 33839013 33839013 single base substitution G T intron_variant MELA-AU 9 33840163 33840163 single base substitution T G intron_variant MELA-AU 9 33840424 33840424 single base substitution C T intron_variant MELA-AU 9 33841450 33841450 single base substitution T C intron_variant MELA-AU 9 33842518 33842518 single base substitution C T intron_variant MELA-AU 9 33842573 33842573 single base substitution G A intron_variant MELA-AU 9 33842820 33842820 single base substitution C T intron_variant MELA-AU 9 33842956 33842956 single base substitution G A intron_variant MELA-AU 9 33843027 33843027 single base substitution A T intron_variant MELA-AU 9 33843357 33843357 single base substitution C T intron_variant MELA-AU 9 33843374 33843374 single base substitution C T intron_variant MELA-AU 9 33844382 33844382 single base substitution A G intron_variant MELA-AU 9 33844427 33844427 single base substitution C T intron_variant MELA-AU 9 33844854 33844854 single base substitution T A intron_variant MELA-AU 9 33845018 33845018 single base substitution C A intron_variant MELA-AU 9 33846832 33846832 single base substitution C T intron_variant MELA-AU 9 33847995 33847995 single base substitution C T intron_variant MELA-AU 9 33848193 33848193 single base substitution C T intron_variant MELA-AU 9 33849116 33849116 single base substitution G A intron_variant MELA-AU 9 33849435 33849435 single base substitution G T intron_variant MELA-AU 9 33849817 33849817 single base substitution A G intron_variant MELA-AU 9 33850431 33850431 single base substitution C T intron_variant MELA-AU 9 33850683 33850683 single base substitution C T intron_variant MELA-AU 9 33850793 33850793 single base substitution C T intron_variant MELA-AU 9 33850874 33850874 single base substitution C T intron_variant MELA-AU 9 33850889 33850889 single base substitution C T intron_variant MELA-AU 9 33851104 33851104 single base substitution C T intron_variant MELA-AU 9 33851570 33851570 single base substitution C T intron_variant MELA-AU 9 33852996 33852996 single base substitution A G intron_variant MELA-AU 9 33855107 33855107 single base substitution C T intron_variant MELA-AU 9 33855260 33855260 single base substitution C A intron_variant MELA-AU 9 33855274 33855274 single base substitution C T intron_variant MELA-AU 9 33855389 33855389 single base substitution T G intron_variant MELA-AU 9 33855472 33855472 single base substitution C T intron_variant MELA-AU 9 33856196 33856196 single base substitution C T intron_variant MELA-AU 9 33856812 33856812 single base substitution C T intron_variant MELA-AU 9 33856856 33856856 single base substitution C T intron_variant MELA-AU 9 33856963 33856963 single base substitution C T intron_variant MELA-AU 9 33857864 33857864 single base substitution C T intron_variant MELA-AU 9 33858163 33858163 single base substitution C T intron_variant MELA-AU 9 33858319 33858319 single base substitution G A intron_variant MELA-AU 9 33858428 33858428 single base substitution C T intron_variant MELA-AU 9 33858497 33858497 single base substitution C T intron_variant MELA-AU 9 33859313 33859313 single base substitution G A intron_variant MELA-AU 9 33859832 33859832 single base substitution C T intron_variant MELA-AU 9 33859899 33859899 single base substitution G A intron_variant MELA-AU 9 33859959 33859959 single base substitution C T intron_variant MELA-AU 9 33860376 33860376 single base substitution T G intron_variant MELA-AU 9 33860514 33860514 single base substitution G A intron_variant MELA-AU 9 33860527 33860527 single base substitution C T intron_variant MELA-AU 9 33862195 33862195 single base substitution C T intron_variant MELA-AU 9 33862214 33862214 single base substitution C T intron_variant MELA-AU 9 33864245 33864245 single base substitution C T intron_variant MELA-AU 9 33865488 33865488 single base substitution C T intron_variant MELA-AU 9 33865644 33865644 single base substitution T A intron_variant MELA-AU 9 33866633 33866633 single base substitution A T intron_variant MELA-AU 9 33867961 33867961 single base substitution C T intron_variant MELA-AU 9 33868974 33868974 single base substitution A G intron_variant MELA-AU 9 33869260 33869260 single base substitution C T intron_variant MELA-AU 9 33870399 33870399 single base substitution C T intron_variant MELA-AU 9 33870946 33870946 single base substitution C T intron_variant MELA-AU 9 33871932 33871932 single base substitution C T intron_variant MELA-AU 9 33873152 33873152 single base substitution G A intron_variant MELA-AU 9 33873167 33873167 single base substitution C T intron_variant MELA-AU 9 33873976 33873976 single base substitution C T intron_variant MELA-AU 9 33874770 33874770 single base substitution C T intron_variant MELA-AU 9 33876108 33876108 single base substitution C T intron_variant MELA-AU 9 33876322 33876322 single base substitution C T intron_variant MELA-AU 9 33878349 33878349 single base substitution C T intron_variant MELA-AU 9 33878999 33878999 single base substitution G A intron_variant MELA-AU 9 33880981 33880981 single base substitution G A intron_variant MELA-AU 9 33881995 33881995 single base substitution C T intron_variant MELA-AU 9 33882016 33882016 single base substitution A G intron_variant MELA-AU 9 33882258 33882258 single base substitution C T intron_variant MELA-AU 9 33882596 33882596 single base substitution G A intron_variant MELA-AU 9 33885710 33885710 single base substitution C T intron_variant MELA-AU 9 33886343 33886343 insertion of <=200bp - T intron_variant MELA-AU 9 33888387 33888387 single base substitution C T intron_variant MELA-AU 9 33888711 33888711 single base substitution C T intron_variant MELA-AU 9 33888806 33888806 single base substitution G A intron_variant MELA-AU 9 33889135 33889135 single base substitution C T intron_variant MELA-AU 9 33889880 33889880 single base substitution C T intron_variant MELA-AU 9 33890636 33890636 single base substitution C T intron_variant MELA-AU 9 33891671 33891671 single base substitution A G intron_variant MELA-AU 9 33891884 33891884 single base substitution C T intron_variant MELA-AU 9 33892558 33892558 single base substitution G C intron_variant MELA-AU 9 33892655 33892655 single base substitution G A intron_variant MELA-AU 9 33892940 33892940 single base substitution C T intron_variant MELA-AU 9 33893603 33893603 single base substitution A G intron_variant MELA-AU 9 33894132 33894132 single base substitution C T intron_variant MELA-AU 9 33894763 33894763 single base substitution C T intron_variant MELA-AU 9 33895487 33895487 single base substitution C T intron_variant MELA-AU 9 33895734 33895734 single base substitution C T intron_variant MELA-AU 9 33896121 33896121 single base substitution C T intron_variant MELA-AU 9 33896823 33896823 single base substitution C T intron_variant MELA-AU 9 33897865 33897865 single base substitution C T intron_variant MELA-AU 9 33900165 33900165 single base substitution C T splice_region_variant MELA-AU 9 33901483 33901484 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 33904291 33904291 single base substitution C T intron_variant MELA-AU 9 33905850 33905850 single base substitution A G intron_variant MELA-AU 9 33907343 33907343 single base substitution A T intron_variant MELA-AU 9 33907918 33907918 single base substitution C T intron_variant MELA-AU 9 33908514 33908514 single base substitution C T intron_variant MELA-AU 9 33908675 33908675 single base substitution C A intron_variant MELA-AU 9 33909566 33909566 single base substitution G A intron_variant MELA-AU 9 33909680 33909680 single base substitution G A intron_variant MELA-AU 9 33909989 33909989 single base substitution G A intron_variant MELA-AU 9 33910009 33910009 single base substitution A G intron_variant MELA-AU 9 33910887 33910887 single base substitution G A intron_variant MELA-AU 9 33911514 33911515 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 33912077 33912077 single base substitution G A missense_variant E160K 478G>A MELA-AU 9 33912332 33912332 single base substitution C T intron_variant MELA-AU 9 33913549 33913549 single base substitution C T intron_variant MELA-AU 9 33914144 33914144 single base substitution C T intron_variant MELA-AU 9 33915189 33915189 single base substitution A G intron_variant MELA-AU 9 33915199 33915199 single base substitution A G intron_variant MELA-AU 9 33917715 33917715 single base substitution A G 3_prime_UTR_variant MELA-AU 9 33919127 33919127 single base substitution C T 3_prime_UTR_variant MELA-AU 9 33919704 33919704 single base substitution G A 3_prime_UTR_variant MELA-AU 9 33920220 33920220 single base substitution A G 3_prime_UTR_variant MELA-AU 9 33923106 33923106 single base substitution G A downstream_gene_variant MELA-AU 9 33923820 33923820 single base substitution A T downstream_gene_variant MELA-AU 9 33924628 33924628 single base substitution C T downstream_gene_variant ORCA-IN 9 33813447 33813447 single base substitution C T upstream_gene_variant ORCA-IN 9 33820928 33820928 single base substitution C G intron_variant ORCA-IN 9 33832711 33832711 deletion of <=200bp T - intron_variant ORCA-IN 9 33857084 33857084 single base substitution T G intron_variant ORCA-IN 9 33861785 33861785 single base substitution C A intron_variant ORCA-IN 9 33887645 33887656 deletion of <=200bp TTTGTTTGTTTG - intron_variant OV-AU 9 33813506 33813506 single base substitution T A upstream_gene_variant OV-AU 9 33825553 33825553 single base substitution T C intron_variant OV-AU 9 33834089 33834089 single base substitution C T intron_variant OV-AU 9 33846031 33846031 single base substitution G A intron_variant OV-AU 9 33847276 33847276 single base substitution G C intron_variant OV-AU 9 33847564 33847564 single base substitution C G intron_variant OV-AU 9 33849477 33849477 single base substitution C A intron_variant OV-AU 9 33860226 33860226 single base substitution C T intron_variant OV-AU 9 33861042 33861042 single base substitution C T intron_variant OV-AU 9 33868926 33868926 single base substitution T G intron_variant OV-AU 9 33875278 33875278 single base substitution G A intron_variant OV-AU 9 33882770 33882770 single base substitution T C intron_variant OV-AU 9 33883719 33883719 single base substitution A G intron_variant OV-AU 9 33888138 33888138 single base substitution G A intron_variant OV-AU 9 33893009 33893009 single base substitution G A intron_variant OV-AU 9 33906775 33906775 single base substitution C G intron_variant OV-AU 9 33907631 33907631 single base substitution A G intron_variant OV-AU 9 33910218 33910218 single base substitution C A intron_variant OV-AU 9 33924207 33924207 single base substitution G C downstream_gene_variant PACA-AU 9 33815977 33815977 single base substitution T G upstream_gene_variant PACA-AU 9 33817284 33817284 single base substitution A C upstream_gene_variant PACA-AU 9 33819559 33819559 single base substitution A G intron_variant PACA-AU 9 33822885 33822885 single base substitution C A intron_variant PACA-AU 9 33825642 33825642 single base substitution G A intron_variant PACA-AU 9 33837146 33837146 single base substitution G C intron_variant PACA-AU 9 33848458 33848458 single base substitution G A intron_variant PACA-AU 9 33848821 33848821 single base substitution C G intron_variant PACA-AU 9 33855727 33855727 single base substitution G A intron_variant PACA-AU 9 33856208 33856208 single base substitution C T intron_variant PACA-AU 9 33860929 33860933 deletion of <=200bp GTTAA - intron_variant PACA-AU 9 33890491 33890491 single base substitution G A intron_variant PACA-AU 9 33891040 33891040 single base substitution G T intron_variant PACA-AU 9 33896093 33896093 single base substitution A G intron_variant PACA-AU 9 33899798 33899798 single base substitution A G intron_variant PACA-AU 9 33911337 33911337 single base substitution G T intron_variant PACA-AU 9 33914177 33914177 single base substitution C G intron_variant PACA-AU 9 33917491 33917491 single base substitution T A 3_prime_UTR_variant PACA-AU 9 33917715 33917715 single base substitution A G 3_prime_UTR_variant PACA-AU 9 33918216 33918216 single base substitution C T 3_prime_UTR_variant PACA-AU 9 33919005 33919005 single base substitution A C 3_prime_UTR_variant PACA-CA 9 33814240 33814240 single base substitution A C upstream_gene_variant PACA-CA 9 33814850 33814850 insertion of <=200bp - G upstream_gene_variant PACA-CA 9 33815261 33815261 single base substitution A G upstream_gene_variant PACA-CA 9 33816148 33816148 single base substitution G A upstream_gene_variant PACA-CA 9 33821618 33821618 single base substitution A T intron_variant PACA-CA 9 33826988 33826988 single base substitution G A intron_variant PACA-CA 9 33827639 33827639 single base substitution A T intron_variant PACA-CA 9 33829690 33829690 single base substitution G A intron_variant PACA-CA 9 33834765 33834765 single base substitution G T intron_variant PACA-CA 9 33834862 33834862 single base substitution C T intron_variant PACA-CA 9 33837919 33837919 insertion of <=200bp - ATATACAG intron_variant PACA-CA 9 33838783 33838783 single base substitution A G intron_variant PACA-CA 9 33839671 33839671 single base substitution C A intron_variant PACA-CA 9 33840692 33840692 single base substitution C G intron_variant PACA-CA 9 33841104 33841104 single base substitution G T intron_variant PACA-CA 9 33841228 33841228 single base substitution C T intron_variant PACA-CA 9 33841465 33841465 single base substitution C T intron_variant PACA-CA 9 33845896 33845896 single base substitution T G intron_variant PACA-CA 9 33846392 33846392 deletion of <=200bp T - intron_variant PACA-CA 9 33847102 33847102 single base substitution A G intron_variant PACA-CA 9 33858107 33858107 single base substitution T C intron_variant PACA-CA 9 33858729 33858729 single base substitution C T intron_variant PACA-CA 9 33859532 33859532 single base substitution C A intron_variant PACA-CA 9 33860117 33860117 single base substitution T A intron_variant PACA-CA 9 33860743 33860743 single base substitution T A intron_variant PACA-CA 9 33861852 33861852 single base substitution T C intron_variant PACA-CA 9 33876023 33876023 single base substitution G T intron_variant PACA-CA 9 33880613 33880613 single base substitution A G intron_variant PACA-CA 9 33886889 33886889 insertion of <=200bp - T frameshift_variant K63I? PACA-CA 9 33888712 33888712 single base substitution A G intron_variant PACA-CA 9 33890169 33890169 single base substitution G T intron_variant PACA-CA 9 33891298 33891298 single base substitution A G intron_variant PACA-CA 9 33895012 33895012 single base substitution A T intron_variant PACA-CA 9 33895036 33895036 single base substitution T C intron_variant PACA-CA 9 33896004 33896004 single base substitution C T intron_variant PACA-CA 9 33907361 33907361 single base substitution C T intron_variant PACA-CA 9 33908530 33908530 insertion of <=200bp - A intron_variant PACA-CA 9 33910272 33910272 single base substitution G A intron_variant PACA-CA 9 33912206 33912206 single base substitution C G intron_variant PACA-CA 9 33915156 33915156 single base substitution C T intron_variant PACA-CA 9 33916809 33916809 single base substitution C T intron_variant PACA-CA 9 33918206 33918206 single base substitution C A 3_prime_UTR_variant PACA-CA 9 33924944 33924944 single base substitution T C downstream_gene_variant PAEN-AU 9 33901502 33901502 single base substitution A G intron_variant PAEN-IT 9 33816122 33816122 single base substitution T C upstream_gene_variant PAEN-IT 9 33816914 33816914 single base substitution C A upstream_gene_variant PAEN-IT 9 33816915 33816915 single base substitution T G upstream_gene_variant PAEN-IT 9 33841699 33841699 single base substitution C A intron_variant PAEN-IT 9 33888236 33888236 single base substitution A G intron_variant PBCA-DE 9 33813808 33813808 insertion of <=200bp - A upstream_gene_variant PBCA-DE 9 33816140 33816140 insertion of <=200bp - CAAG upstream_gene_variant PBCA-DE 9 33819418 33819418 single base substitution C T intron_variant PBCA-DE 9 33841329 33841329 single base substitution C T intron_variant PBCA-DE 9 33842241 33842241 deletion of <=200bp A - intron_variant PBCA-DE 9 33846631 33846631 single base substitution T G intron_variant PBCA-DE 9 33856757 33856757 single base substitution T A intron_variant PBCA-DE 9 33857212 33857212 insertion of <=200bp - T intron_variant PBCA-DE 9 33877798 33877798 insertion of <=200bp - TCTG intron_variant PBCA-DE 9 33877822 33877823 deletion of <=200bp TC - intron_variant PBCA-DE 9 33878460 33878460 single base substitution T C intron_variant PBCA-DE 9 33885172 33885172 single base substitution C T intron_variant PBCA-DE 9 33885790 33885790 deletion of <=200bp T - intron_variant PBCA-DE 9 33886162 33886162 single base substitution C A intron_variant PBCA-DE 9 33897592 33897592 single base substitution A G intron_variant PBCA-DE 9 33900926 33900927 deletion of <=200bp TC - intron_variant PBCA-DE 9 33908112 33908112 single base substitution C T intron_variant PBCA-DE 9 33917973 33917973 single base substitution C A 3_prime_UTR_variant PBCA-DE 9 33925294 33925294 single base substitution C A downstream_gene_variant PRAD-CA 9 33832318 33832318 single base substitution G A intron_variant PRAD-CA 9 33834202 33834202 single base substitution C T intron_variant PRAD-CA 9 33836766 33836766 single base substitution A T intron_variant PRAD-CA 9 33838774 33838774 single base substitution T C intron_variant PRAD-CA 9 33852565 33852565 single base substitution T G intron_variant PRAD-CA 9 33859797 33859797 single base substitution T A intron_variant PRAD-CA 9 33871243 33871243 single base substitution A G intron_variant PRAD-CA 9 33872399 33872399 single base substitution A T intron_variant PRAD-CA 9 33878844 33878844 single base substitution A G intron_variant PRAD-CA 9 33892726 33892726 single base substitution T C intron_variant PRAD-UK 9 33813808 33813808 single base substitution A T upstream_gene_variant PRAD-UK 9 33822120 33822120 single base substitution G A intron_variant PRAD-UK 9 33833667 33833667 insertion of <=200bp - T intron_variant PRAD-UK 9 33842476 33842476 single base substitution C T intron_variant PRAD-UK 9 33867590 33867590 single base substitution T G intron_variant PRAD-UK 9 33879270 33879270 single base substitution G T intron_variant PRAD-UK 9 33895947 33895947 insertion of <=200bp - T intron_variant PRAD-UK 9 33896382 33896382 single base substitution G C intron_variant PRAD-UK 9 33900680 33900680 single base substitution A G intron_variant PRAD-UK 9 33910859 33910859 single base substitution G A intron_variant PRAD-UK 9 33923459 33923459 single base substitution G A downstream_gene_variant PRAD-US 9 33923825 33923825 single base substitution G A downstream_gene_variant RECA-EU 9 33822898 33822898 single base substitution T G intron_variant RECA-EU 9 33823072 33823072 single base substitution T C intron_variant RECA-EU 9 33836023 33836023 single base substitution G A intron_variant RECA-EU 9 33840043 33840043 single base substitution T C intron_variant RECA-EU 9 33857781 33857781 single base substitution T A intron_variant RECA-EU 9 33869277 33869277 single base substitution T C intron_variant RECA-EU 9 33870749 33870749 single base substitution G A intron_variant RECA-EU 9 33885601 33885601 single base substitution C A intron_variant RECA-EU 9 33894006 33894006 single base substitution C T intron_variant RECA-EU 9 33914326 33914326 single base substitution T C intron_variant RECA-EU 9 33917139 33917139 single base substitution C T synonymous_variant Y207Y 621C>T RECA-EU 9 33920047 33920047 single base substitution T C 3_prime_UTR_variant RECA-EU 9 33920921 33920921 single base substitution A G downstream_gene_variant RECA-EU 9 33923851 33923851 single base substitution G C downstream_gene_variant SKCA-BR 9 33812647 33812647 single base substitution G A upstream_gene_variant SKCA-BR 9 33817051 33817051 single base substitution A G upstream_gene_variant SKCA-BR 9 33817256 33817257 deletion of <=200bp CG - upstream_gene_variant SKCA-BR 9 33817259 33817259 single base substitution G A upstream_gene_variant SKCA-BR 9 33818546 33818552 deletion of <=200bp AAAAAGG - intron_variant SKCA-BR 9 33818548 33818551 deletion of <=200bp AAAG - intron_variant SKCA-BR 9 33824661 33824661 single base substitution T G intron_variant SKCA-BR 9 33824899 33824899 single base substitution G A intron_variant SKCA-BR 9 33826627 33826629 deletion of <=200bp GGA - intron_variant SKCA-BR 9 33827968 33827968 insertion of <=200bp - CA intron_variant SKCA-BR 9 33828392 33828392 insertion of <=200bp - CT intron_variant SKCA-BR 9 33829790 33829792 deletion of <=200bp CGT - intron_variant SKCA-BR 9 33829791 33829791 insertion of <=200bp - GT intron_variant SKCA-BR 9 33832604 33832604 single base substitution C T intron_variant SKCA-BR 9 33835143 33835143 insertion of <=200bp - GT intron_variant SKCA-BR 9 33835649 33835649 single base substitution G A intron_variant SKCA-BR 9 33837418 33837418 insertion of <=200bp - CT intron_variant SKCA-BR 9 33837725 33837725 insertion of <=200bp - GT intron_variant SKCA-BR 9 33840634 33840634 insertion of <=200bp - CT intron_variant SKCA-BR 9 33842699 33842699 single base substitution T C intron_variant SKCA-BR 9 33844557 33844557 single base substitution C T intron_variant SKCA-BR 9 33847745 33847746 deletion of <=200bp AT - intron_variant SKCA-BR 9 33849786 33849786 single base substitution T G intron_variant SKCA-BR 9 33852741 33852741 single base substitution G C intron_variant SKCA-BR 9 33853216 33853217 deletion of <=200bp CT - intron_variant SKCA-BR 9 33854537 33854537 single base substitution C T intron_variant SKCA-BR 9 33857193 33857193 single base substitution C T intron_variant SKCA-BR 9 33858042 33858042 single base substitution C T intron_variant SKCA-BR 9 33858445 33858445 single base substitution C T intron_variant SKCA-BR 9 33859755 33859757 deletion of <=200bp CTT - intron_variant SKCA-BR 9 33859797 33859797 single base substitution T A intron_variant SKCA-BR 9 33860810 33860810 insertion of <=200bp - TCTTGAGCC intron_variant SKCA-BR 9 33860907 33860907 single base substitution T C intron_variant SKCA-BR 9 33863243 33863243 single base substitution C T intron_variant SKCA-BR 9 33864803 33864803 single base substitution A C intron_variant SKCA-BR 9 33865823 33865823 insertion of <=200bp - GT intron_variant SKCA-BR 9 33866061 33866061 single base substitution C T intron_variant SKCA-BR 9 33868202 33868202 single base substitution T A intron_variant SKCA-BR 9 33869592 33869592 single base substitution T G intron_variant SKCA-BR 9 33873948 33873948 insertion of <=200bp - AT intron_variant SKCA-BR 9 33874361 33874361 single base substitution T G intron_variant SKCA-BR 9 33875358 33875358 single base substitution C T intron_variant SKCA-BR 9 33879748 33879749 deletion of <=200bp CT - intron_variant SKCA-BR 9 33882524 33882524 single base substitution A C intron_variant SKCA-BR 9 33883493 33883493 single base substitution C T intron_variant SKCA-BR 9 33883730 33883730 single base substitution G A intron_variant SKCA-BR 9 33887644 33887644 insertion of <=200bp - TTTTG intron_variant SKCA-BR 9 33890680 33890680 single base substitution T G intron_variant SKCA-BR 9 33896825 33896837 deletion of <=200bp TGAAAGAGTGTTA - intron_variant SKCA-BR 9 33896961 33896961 single base substitution T C intron_variant SKCA-BR 9 33897238 33897238 single base substitution G T intron_variant SKCA-BR 9 33897773 33897773 insertion of <=200bp - CT intron_variant SKCA-BR 9 33899917 33899917 single base substitution C T intron_variant SKCA-BR 9 33902788 33902788 single base substitution A T intron_variant SKCA-BR 9 33907631 33907631 single base substitution A G intron_variant SKCA-BR 9 33907642 33907642 single base substitution T G intron_variant SKCA-BR 9 33907680 33907680 single base substitution A G intron_variant SKCA-BR 9 33909004 33909004 insertion of <=200bp - TTAAATAAA intron_variant SKCA-BR 9 33909258 33909258 single base substitution T G intron_variant SKCA-BR 9 33910091 33910091 single base substitution G C intron_variant SKCM-US 9 33886894 33886894 single base substitution C T missense_variant P65S 193C>T SKCM-US 9 33912014 33912014 single base substitution C G missense_variant P139A 415C>G SKCM-US 9 33922684 33922684 single base substitution C T downstream_gene_variant SKCM-US 9 33923424 33923424 single base substitution G A downstream_gene_variant SKCM-US 9 33923820 33923820 single base substitution A T downstream_gene_variant STAD-US 9 33900231 33900231 single base substitution A G synonymous_variant E108E 324A>G STAD-US 9 33922786 33922786 single base substitution C G downstream_gene_variant THCA-SA 9 33917498 33917498 single base substitution T C 3_prime_UTR_variant THCA-SA 9 33921977 33921977 single base substitution G C downstream_gene_variant UCEC-US 9 33886954 33886954 single base substitution A G missense_variant N85D 253A>G UCEC-US 9 33900191 33900191 single base substitution C T missense_variant S95L 284C>T UCEC-US 9 33912025 33912025 single base substitution C T synonymous_variant V142V 426C>T UCEC-US 9 33922583 33922583 single base substitution C T downstream_gene_variant UCEC-US 9 33922844 33922844 single base substitution C T downstream_gene_variant UCEC-US 9 33922847 33922847 single base substitution C T downstream_gene_variant UCEC-US 9 33923014 33923014 deletion of <=200bp T - downstream_gene_variant UCEC-US 9 33923438 33923438 single base substitution G C downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B7-5818-01 COSM3906958 c.324A>G p.E108E Substitution - coding silent 9:33900233-33900233 + TCGA-D5-6537-01 COSM1462095 c.444C>A p.F148L Substitution - Missense 9:33912045-33912045 + ESCC_33 COSM5628354 c.642_643insA p.I215fs*2 Insertion - Frameshift 9:33917162-33917163 + 2492729 COSM2772893 c.180G>A p.A60A Substitution - coding silent 9:33886883-33886883 + 116 COSM5016258 c.463delA p.G156fs*26 Deletion - Frameshift 9:33912064-33912064 + 587358 COSM1231556 c.130G>A p.A44T Substitution - Missense 9:33817887-33817887 + LC_S2 COSM1191045 c.189_190insA p.F64fs*4 Insertion - Frameshift 9:33886892-33886893 + BCM257T COSM4951566 c.43C>A p.L15I Substitution - Missense 9:33817800-33817800 + TCGA-AP-A0LM-01 COSM1108383 c.426C>T p.V142V Substitution - coding silent 9:33912027-33912027 + TCGA-BS-A0UF-01 COSM186036 c.284C>T p.S95L Substitution - Missense 9:33900193-33900193 + U2940 COSM5622098 c.539G>A p.G180E Substitution - Missense 9:33917059-33917059 + TCGA-AR-A256-01 COSM1489954 c.334G>A p.E112K Substitution - Missense 9:33900243-33900243 + PT44 COSM5926705 c.661G>A p.E221K Substitution - Missense 9:33917181-33917181 + PT45 COSM1624915 c.497+7delT p.? Unknown 9:33912105-33912105 + TCGA-AK-3458-01 COSM487386 c.146C>T p.P49L Substitution - Missense 9:33817903-33817903 + BN24T COSM1624915 c.497+7delT p.? Unknown 9:33912105-33912105 + sysucc-311T COSM5467687 c.478G>T p.E160* Substitution - Nonsense 9:33912079-33912079 + 587228 COSM1231555 c.179C>T p.A60V Substitution - Missense 9:33886882-33886882 + TCGA-BQ-5880-01 COSM3996528 c.331T>A p.S111T Substitution - Missense 9:33900240-33900240 + TCGA-D3-A5GO-06 COSM3656979 c.193C>T p.P65S Substitution - Missense 9:33886896-33886896 + TCGA-66-2759-01 COSM753596 c.292C>T p.H98Y Substitution - Missense 9:33900201-33900201 + TCGA-A6-3807-01 COSM291309 c.622G>A p.D208N Substitution - Missense 9:33917142-33917142 + TCGA-AB-2932-03 COSM1319606 c.658_660delGAG p.E223delE Deletion - In frame 9:33917178-33917180 + CHEWS034 COSM2772898 c.564G>A p.A188A Substitution - coding silent 9:33917084-33917084 + SWE-52 COSM1180343 c.296C>A p.P99Q Substitution - Missense 9:33900205-33900205 + TCGA-BG-A0VZ-01 COSM1108380 c.253A>G p.N85D Substitution - Missense 9:33886956-33886956 + TCGA-EE-A2GT-06 COSM3656980 c.415C>G p.P139A Substitution - Missense 9:33912016-33912016 + RKO COSM4649329 c.177G>T p.K59N Substitution - Missense 9:33817934-33817934 + S0029 COSM5884849 c.260A>G p.Y87C Substitution - Missense 9:33886963-33886963 + ccRCC-9 COSM1664857 c.369C>G p.I123M Substitution - Missense 9:33911970-33911970 + BCM257T COSM4951566 c.43C>A p.L15I Substitution - Missense 9:33817800-33817800 + C0002T COSM2772899 c.621C>T p.Y207Y Substitution - coding silent 9:33917141-33917141 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.740452 9p13.3 612506 2398392|CGAP|BC004862|C/T|non-coding||1160|Validated; 2398392|CGAP|BC047584|C/T|non-coding||1407|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.N85D c.253A>G 9 33886954 UCEC A G Synonymous p.E108E c.324A>G 9 33900231 STAD C G Missense p.N201K c.603C>G 9 33917121 BRCA C G Missense p.P139A c.415C>G 9 33912014 CM C G Nonsense p.S203* c.608C>G 9 33917126 HNSC C T Missense p.H98Y c.292C>T 9 33900199 LUSC C T Missense p.P49L c.146C>T 9 33817901 RCCC GAG - InFrameDeletion p.E223delE c.666_668delGGA 9 33917176 AML G A Missense p.D208N c.622G>A 9 33917140 COREAD G A Missense p.E112K c.334G>A 9 33900241 BRCA G A Missense p.E218K c.652G>A 9 33917170 LUAD T A IntronicSNV . c.362+2217T>A 9 33902486 PIA