Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 13 30346294 30346294 + Missense_Mutation SNP G G T TCGA-OR-A5L6-01A-11D-A29I-10 TCGA-OR-A5L6-10C-01D-A29L-10 g.chr13:30346294G>T c.178C>A c.(178-180)Ctt>Att p.L60I BLCA 13 30341760 30341760 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr13:30341760G>C c.296C>G c.(295-297)tCt>tGt p.S99C BLCA 13 30346273 30346273 + Silent SNP G G A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr13:30346273G>A c.199C>T c.(199-201)Cta>Tta p.L67L BRCA 13 30351391 30351391 + Missense_Mutation SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 g.chr13:30351391G>A c.37C>T c.(37-39)Cgc>Tgc p.R13C COAD 13 30346296 30346296 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr13:30346296C>T c.176G>A c.(175-177)cGa>cAa p.R59Q COADREAD 13 30346296 30346296 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr13:30346296C>T c.176G>A c.(175-177)cGa>cAa p.R59Q COADREAD 13 30351348 30351348 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:30351348G>T c.80C>A c.(79-81)tCt>tAt p.S27Y COADREAD 13 30423672 30423672 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:30423672A>G c.4T>C c.(4-6)Tcc>Ccc p.S2P GBMLGG 13 30341404 30341406 + In_Frame_Del DEL ACA ACA - TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 g.chr13:30341404_30341406delACA c.340_342delTGT c.(340-342)tgtdel p.C114del LGG 13 30341404 30341406 + In_Frame_Del DEL ACA ACA - TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 g.chr13:30341404_30341406delACA c.340_342delTGT c.(340-342)tgtdel p.C114del LIHC 13 30341820 30341820 + Missense_Mutation SNP G G A TCGA-DD-AADL-01A-11D-A40R-10 TCGA-DD-AADL-10A-01D-A40U-10 g.chr13:30341820G>A c.236C>T c.(235-237)cCt>cTt p.P79L LUAD 13 30341775 30341775 + Nonsense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr13:30341775A>C c.281T>G c.(280-282)tTa>tGa p.L94* LUSC 13 30423650 30423650 + Splice_Site SNP A A G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 g.chr13:30423650A>G c.26T>C c.(25-27)aTg>aCg p.M9T PAAD 13 30341410 30341410 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:30341410A>C c.336T>G c.(334-336)aaT>aaG p.N112K PAAD 13 30351362 30351363 + Frame_Shift_Del DEL TT TT - TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 g.chr13:30351362_30351363delTT c.65_66delAA c.(64-66)aaafs p.K22fs READ 13 30351348 30351348 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:30351348G>T c.80C>A c.(79-81)tCt>tAt p.S27Y READ 13 30423672 30423672 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:30423672A>G c.4T>C c.(4-6)Tcc>Ccc p.S2P SARC 13 30341763 30341763 + Missense_Mutation SNP T T C TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 g.chr13:30341763T>C c.293A>G c.(292-294)aAc>aGc p.N98S SKCM 13 30346297 30346297 + Nonsense_Mutation SNP G G A TCGA-EE-A29T-06A-11D-A197-08 TCGA-EE-A29T-10A-01D-A199-08 g.chr13:30346297G>A c.175C>T c.(175-177)Cga>Tga p.R59* SKCM 13 30351346 30351346 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr13:30351346G>A c.82C>T c.(82-84)Cct>Tct p.P28S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 13 30341760 30341760 single base substitution G C missense_variant S99C 296C>G BRCA-EU 13 30334648 30334648 single base substitution G C downstream_gene_variant BRCA-EU 13 30337262 30337262 deletion of <=200bp A - downstream_gene_variant BRCA-EU 13 30337821 30337821 single base substitution G A downstream_gene_variant BRCA-EU 13 30338931 30338931 single base substitution C A 3_prime_UTR_variant BRCA-EU 13 30338968 30338968 single base substitution C A 3_prime_UTR_variant BRCA-EU 13 30339724 30339724 single base substitution A G 3_prime_UTR_variant BRCA-EU 13 30341266 30341266 single base substitution G A 3_prime_UTR_variant BRCA-EU 13 30342118 30342118 single base substitution T C intron_variant BRCA-EU 13 30344472 30344472 single base substitution G C intron_variant BRCA-EU 13 30346617 30346617 single base substitution T C intron_variant BRCA-EU 13 30347262 30347262 insertion of <=200bp - A intron_variant BRCA-EU 13 30347285 30347285 single base substitution G A intron_variant BRCA-EU 13 30347412 30347412 single base substitution G A intron_variant BRCA-EU 13 30349044 30349044 single base substitution C T intron_variant BRCA-EU 13 30349736 30349736 single base substitution C A intron_variant BRCA-EU 13 30350057 30350057 single base substitution G A intron_variant BRCA-EU 13 30350181 30350181 single base substitution G C intron_variant BRCA-EU 13 30350748 30350748 single base substitution G A intron_variant BRCA-EU 13 30352479 30352483 deletion of <=200bp TTAAT - intron_variant BRCA-EU 13 30353844 30353844 single base substitution T G intron_variant BRCA-EU 13 30356463 30356463 single base substitution C A intron_variant BRCA-EU 13 30356707 30356707 single base substitution C T intron_variant BRCA-EU 13 30356836 30356836 single base substitution G T intron_variant BRCA-EU 13 30357930 30357930 insertion of <=200bp - G intron_variant BRCA-EU 13 30362046 30362046 single base substitution G T intron_variant BRCA-EU 13 30363614 30363614 single base substitution T G intron_variant BRCA-EU 13 30364870 30364870 single base substitution T C intron_variant BRCA-EU 13 30364973 30364973 single base substitution C T intron_variant BRCA-EU 13 30367226 30367226 single base substitution T G intron_variant BRCA-EU 13 30369361 30369361 deletion of <=200bp T - intron_variant BRCA-EU 13 30378598 30378598 single base substitution G T intron_variant BRCA-EU 13 30381175 30381175 single base substitution G T intron_variant BRCA-EU 13 30381234 30381234 single base substitution G A intron_variant BRCA-EU 13 30384485 30384486 deletion of <=200bp AG - intron_variant BRCA-EU 13 30385800 30385800 single base substitution G A intron_variant BRCA-EU 13 30385887 30385887 single base substitution C A intron_variant BRCA-EU 13 30386940 30386940 single base substitution G A intron_variant BRCA-EU 13 30389131 30389131 single base substitution G A intron_variant BRCA-EU 13 30390010 30390010 single base substitution G C intron_variant BRCA-EU 13 30391076 30391076 single base substitution T C intron_variant BRCA-EU 13 30391351 30391351 single base substitution T C intron_variant BRCA-EU 13 30392913 30392913 single base substitution G T intron_variant BRCA-EU 13 30394710 30394710 single base substitution G C intron_variant BRCA-EU 13 30396922 30396922 single base substitution G A intron_variant BRCA-EU 13 30397092 30397092 deletion of <=200bp A - intron_variant BRCA-EU 13 30398405 30398405 single base substitution T C intron_variant BRCA-EU 13 30400194 30400194 single base substitution T C intron_variant BRCA-EU 13 30400621 30400621 single base substitution T G intron_variant BRCA-EU 13 30401861 30401861 single base substitution G A intron_variant BRCA-EU 13 30402072 30402072 single base substitution A G intron_variant BRCA-EU 13 30403494 30403494 single base substitution G A intron_variant BRCA-EU 13 30404878 30404878 single base substitution G A intron_variant BRCA-EU 13 30410336 30410336 single base substitution G A intron_variant BRCA-EU 13 30410797 30410797 single base substitution C G intron_variant BRCA-EU 13 30412328 30412328 single base substitution G A intron_variant BRCA-EU 13 30413490 30413490 single base substitution G T intron_variant BRCA-EU 13 30414753 30414753 single base substitution G C intron_variant BRCA-EU 13 30415158 30415158 single base substitution A C intron_variant BRCA-EU 13 30415990 30415990 single base substitution C T intron_variant BRCA-EU 13 30416683 30416683 single base substitution G A intron_variant BRCA-EU 13 30417404 30417404 single base substitution G C intron_variant BRCA-EU 13 30419029 30419029 single base substitution G C intron_variant BRCA-EU 13 30421208 30421208 single base substitution T G intron_variant BRCA-EU 13 30422214 30422214 single base substitution G C intron_variant BRCA-EU 13 30423559 30423559 single base substitution G A intron_variant BRCA-EU 13 30426277 30426277 single base substitution G C upstream_gene_variant BRCA-FR 13 30344472 30344472 single base substitution G C intron_variant BRCA-FR 13 30349736 30349736 single base substitution C A intron_variant BRCA-FR 13 30352800 30352800 single base substitution A C intron_variant BRCA-FR 13 30353844 30353844 single base substitution T G intron_variant BRCA-FR 13 30382910 30382910 single base substitution C G intron_variant BRCA-FR 13 30389077 30389077 single base substitution C G intron_variant BRCA-FR 13 30394710 30394710 single base substitution G C intron_variant BRCA-FR 13 30401861 30401861 single base substitution G A intron_variant BRCA-FR 13 30409194 30409194 single base substitution G A intron_variant BRCA-FR 13 30411999 30411999 single base substitution G A intron_variant BRCA-FR 13 30416683 30416683 single base substitution G A intron_variant BRCA-FR 13 30428320 30428320 single base substitution A C upstream_gene_variant BRCA-UK 13 30404878 30404878 single base substitution G A intron_variant BRCA-US 13 30351391 30351391 single base substitution G A missense_variant R13C 37C>T BTCA-JP 13 30341870 30341870 single base substitution T C intron_variant BTCA-JP 13 30346109 30346109 single base substitution T C intron_variant CLLE-ES 13 30398989 30398989 single base substitution A C intron_variant CLLE-ES 13 30408844 30408844 single base substitution T G intron_variant CLLE-ES 13 30427200 30427200 single base substitution C T upstream_gene_variant COCA-CN 13 30341240 30341240 single base substitution A G 3_prime_UTR_variant COCA-CN 13 30341826 30341826 single base substitution T G missense_variant K77T 230A>C COCA-CN 13 30346180 30346180 single base substitution A G intron_variant COCA-CN 13 30353326 30353326 single base substitution C A intron_variant ESAD-UK 13 30335930 30335930 single base substitution G T downstream_gene_variant ESAD-UK 13 30343038 30343038 single base substitution C G intron_variant ESAD-UK 13 30343668 30343668 single base substitution T G intron_variant ESAD-UK 13 30344663 30344663 single base substitution G A intron_variant ESAD-UK 13 30346302 30346302 single base substitution A C missense_variant I57S 170T>G ESAD-UK 13 30347381 30347381 single base substitution T C intron_variant ESAD-UK 13 30348523 30348523 single base substitution C T intron_variant ESAD-UK 13 30348624 30348624 single base substitution A G intron_variant ESAD-UK 13 30351306 30351306 single base substitution T C missense_variant D41G 122A>G ESAD-UK 13 30352302 30352302 single base substitution G C intron_variant ESAD-UK 13 30352631 30352631 single base substitution T C intron_variant ESAD-UK 13 30355270 30355270 single base substitution C A intron_variant ESAD-UK 13 30365001 30365001 single base substitution T G intron_variant ESAD-UK 13 30365142 30365142 single base substitution C G intron_variant ESAD-UK 13 30365593 30365593 single base substitution T G intron_variant ESAD-UK 13 30365850 30365850 single base substitution T C intron_variant ESAD-UK 13 30367770 30367770 single base substitution T A intron_variant ESAD-UK 13 30368914 30368914 single base substitution T G intron_variant ESAD-UK 13 30369068 30369068 single base substitution G A intron_variant ESAD-UK 13 30369440 30369440 deletion of <=200bp A - intron_variant ESAD-UK 13 30370169 30370169 single base substitution C T intron_variant ESAD-UK 13 30379295 30379295 single base substitution G T intron_variant ESAD-UK 13 30379728 30379728 single base substitution G A intron_variant ESAD-UK 13 30380511 30380511 single base substitution A C intron_variant ESAD-UK 13 30381079 30381079 single base substitution C T intron_variant ESAD-UK 13 30382711 30382711 single base substitution G A intron_variant ESAD-UK 13 30383262 30383262 single base substitution C A intron_variant ESAD-UK 13 30386360 30386360 single base substitution T C intron_variant ESAD-UK 13 30386841 30386841 single base substitution A C intron_variant ESAD-UK 13 30387389 30387389 single base substitution C T intron_variant ESAD-UK 13 30388266 30388266 deletion of <=200bp T - intron_variant ESAD-UK 13 30390095 30390095 single base substitution A C intron_variant ESAD-UK 13 30391481 30391481 single base substitution C A intron_variant ESAD-UK 13 30393036 30393036 single base substitution T C intron_variant ESAD-UK 13 30396707 30396707 single base substitution T C intron_variant ESAD-UK 13 30397298 30397298 single base substitution G C intron_variant ESAD-UK 13 30401016 30401016 single base substitution G A intron_variant ESAD-UK 13 30403622 30403622 single base substitution A T intron_variant ESAD-UK 13 30404666 30404666 single base substitution C A intron_variant ESAD-UK 13 30407498 30407498 deletion of <=200bp G - intron_variant ESAD-UK 13 30407591 30407591 single base substitution C A intron_variant ESAD-UK 13 30408379 30408379 single base substitution A T intron_variant ESAD-UK 13 30410492 30410492 single base substitution T C intron_variant ESAD-UK 13 30410886 30410886 single base substitution A T intron_variant ESAD-UK 13 30412161 30412161 single base substitution T C intron_variant ESAD-UK 13 30414640 30414640 single base substitution C T intron_variant ESAD-UK 13 30416091 30416091 single base substitution G A intron_variant ESAD-UK 13 30422631 30422631 deletion of <=200bp A - intron_variant ESAD-UK 13 30425858 30425858 single base substitution A C upstream_gene_variant ESAD-UK 13 30427700 30427700 single base substitution T C upstream_gene_variant ESAD-UK 13 30428397 30428397 single base substitution G A upstream_gene_variant ESAD-UK 13 30428512 30428512 insertion of <=200bp - A upstream_gene_variant ESAD-UK 13 30429047 30429047 single base substitution T C upstream_gene_variant ESAD-UK 13 30429462 30429462 single base substitution A G upstream_gene_variant ESAD-UK 13 30429774 30429774 single base substitution C T upstream_gene_variant ESCA-CN 13 30346188 30346188 single base substitution A C intron_variant LAML-KR 13 30410504 30410504 single base substitution T C intron_variant LGG-US 13 30341404 30341406 deletion of <=200bp ACA - inframe_deletion C114 LICA-FR 13 30334051 30334051 single base substitution A G downstream_gene_variant LICA-FR 13 30400253 30400253 single base substitution T A intron_variant LICA-FR 13 30401489 30401489 single base substitution T C intron_variant LICA-FR 13 30402380 30402380 single base substitution A T intron_variant LICA-FR 13 30402399 30402399 single base substitution T A intron_variant LICA-FR 13 30428852 30428852 single base substitution A G upstream_gene_variant LINC-JP 13 30341808 30341808 deletion of <=200bp G - frameshift_variant T83 LINC-JP 13 30356306 30356306 single base substitution G T intron_variant LINC-JP 13 30358302 30358302 single base substitution A G intron_variant LINC-JP 13 30362618 30362618 single base substitution T C intron_variant LINC-JP 13 30369892 30369892 single base substitution G A intron_variant LINC-JP 13 30369915 30369915 single base substitution G A intron_variant LINC-JP 13 30381787 30381787 single base substitution T C intron_variant LINC-JP 13 30386496 30386496 single base substitution T C intron_variant LINC-JP 13 30388841 30388841 single base substitution C T intron_variant LIRI-JP 13 30333927 30333927 single base substitution G A downstream_gene_variant LIRI-JP 13 30335204 30335204 single base substitution G T downstream_gene_variant LIRI-JP 13 30335422 30335422 single base substitution T C downstream_gene_variant LIRI-JP 13 30336533 30336533 single base substitution T C downstream_gene_variant LIRI-JP 13 30336941 30336941 single base substitution A G downstream_gene_variant LIRI-JP 13 30339769 30339769 single base substitution T C 3_prime_UTR_variant LIRI-JP 13 30340366 30340366 single base substitution T C 3_prime_UTR_variant LIRI-JP 13 30341820 30341820 deletion of <=200bp G - frameshift_variant P79 LIRI-JP 13 30342530 30342530 single base substitution T C intron_variant LIRI-JP 13 30344685 30344685 deletion of <=200bp T - intron_variant LIRI-JP 13 30346308 30346308 insertion of <=200bp - G frameshift_variant P55P? LIRI-JP 13 30346779 30346779 single base substitution T C intron_variant LIRI-JP 13 30346781 30346781 single base substitution T C intron_variant LIRI-JP 13 30349173 30349173 single base substitution G A intron_variant LIRI-JP 13 30351829 30351829 single base substitution T C intron_variant LIRI-JP 13 30354869 30354869 single base substitution T C intron_variant LIRI-JP 13 30355241 30355241 single base substitution G A intron_variant LIRI-JP 13 30355293 30355293 single base substitution C T intron_variant LIRI-JP 13 30356172 30356172 single base substitution A G intron_variant LIRI-JP 13 30356624 30356624 single base substitution T A intron_variant LIRI-JP 13 30357521 30357521 single base substitution T C intron_variant LIRI-JP 13 30359203 30359203 single base substitution C G intron_variant LIRI-JP 13 30361428 30361428 single base substitution T C intron_variant LIRI-JP 13 30361463 30361463 single base substitution T C intron_variant LIRI-JP 13 30364643 30364643 single base substitution G A intron_variant LIRI-JP 13 30365472 30365472 single base substitution A T intron_variant LIRI-JP 13 30365473 30365473 single base substitution C G intron_variant LIRI-JP 13 30366934 30366934 single base substitution C T intron_variant LIRI-JP 13 30368066 30368066 single base substitution C A intron_variant LIRI-JP 13 30368078 30368078 single base substitution T C intron_variant LIRI-JP 13 30368117 30368117 single base substitution G C intron_variant LIRI-JP 13 30368779 30368779 single base substitution T A intron_variant LIRI-JP 13 30368893 30368893 single base substitution T C intron_variant LIRI-JP 13 30371125 30371125 single base substitution T C intron_variant LIRI-JP 13 30371476 30371476 single base substitution T C intron_variant LIRI-JP 13 30378940 30378940 single base substitution T C intron_variant LIRI-JP 13 30379200 30379200 single base substitution T C intron_variant LIRI-JP 13 30380049 30380049 single base substitution C A intron_variant LIRI-JP 13 30381679 30381679 single base substitution T A intron_variant LIRI-JP 13 30381827 30381827 single base substitution T C intron_variant LIRI-JP 13 30383904 30383904 single base substitution C G intron_variant LIRI-JP 13 30384062 30384062 single base substitution G T intron_variant LIRI-JP 13 30384969 30384969 single base substitution G A intron_variant LIRI-JP 13 30387146 30387146 single base substitution T C intron_variant LIRI-JP 13 30387176 30387176 single base substitution C T intron_variant LIRI-JP 13 30387482 30387482 single base substitution T C intron_variant LIRI-JP 13 30389537 30389537 single base substitution C T intron_variant LIRI-JP 13 30390186 30390186 single base substitution T A intron_variant LIRI-JP 13 30391168 30391168 single base substitution T A intron_variant LIRI-JP 13 30391413 30391413 single base substitution C T intron_variant LIRI-JP 13 30392431 30392431 single base substitution T A intron_variant LIRI-JP 13 30393424 30393424 single base substitution A C intron_variant LIRI-JP 13 30393514 30393514 single base substitution T C intron_variant LIRI-JP 13 30393973 30393973 single base substitution T C intron_variant LIRI-JP 13 30400037 30400037 single base substitution C A intron_variant LIRI-JP 13 30402115 30402115 single base substitution T C intron_variant LIRI-JP 13 30404257 30404257 single base substitution G A intron_variant LIRI-JP 13 30404989 30404989 single base substitution C G intron_variant LIRI-JP 13 30407146 30407146 single base substitution T C intron_variant LIRI-JP 13 30407541 30407542 deletion of <=200bp AA - intron_variant LIRI-JP 13 30408457 30408457 single base substitution T C intron_variant LIRI-JP 13 30411310 30411310 single base substitution C T intron_variant LIRI-JP 13 30411467 30411467 single base substitution T C intron_variant LIRI-JP 13 30413753 30413753 single base substitution C T intron_variant LIRI-JP 13 30415089 30415089 single base substitution G A intron_variant LIRI-JP 13 30416837 30416837 single base substitution T C intron_variant LIRI-JP 13 30420238 30420238 deletion of <=200bp A - intron_variant LIRI-JP 13 30420565 30420565 single base substitution T C intron_variant LIRI-JP 13 30421234 30421234 single base substitution T C intron_variant LIRI-JP 13 30422451 30422451 single base substitution A G intron_variant LIRI-JP 13 30423245 30423245 single base substitution T C intron_variant LUSC-KR 13 30340103 30340103 single base substitution G A 3_prime_UTR_variant LUSC-KR 13 30340585 30340585 single base substitution T C 3_prime_UTR_variant LUSC-KR 13 30349060 30349060 single base substitution C A intron_variant LUSC-KR 13 30351313 30351313 single base substitution C A missense_variant V39L 115G>T LUSC-KR 13 30355259 30355259 single base substitution C T intron_variant LUSC-KR 13 30365258 30365258 single base substitution C A intron_variant LUSC-KR 13 30372208 30372208 single base substitution G C intron_variant LUSC-KR 13 30405635 30405635 single base substitution G A intron_variant LUSC-KR 13 30409704 30409704 single base substitution C A intron_variant LUSC-KR 13 30423838 30423838 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 13 30425516 30425516 single base substitution G A upstream_gene_variant LUSC-KR 13 30428387 30428387 single base substitution C T upstream_gene_variant LUSC-US 13 30423650 30423650 single base substitution A G missense_variant M9T 26T>C MALY-DE 13 30337888 30337888 single base substitution G A downstream_gene_variant MALY-DE 13 30339758 30339758 insertion of <=200bp - T 3_prime_UTR_variant MALY-DE 13 30343866 30343866 single base substitution T C intron_variant MALY-DE 13 30353096 30353096 single base substitution A C intron_variant MALY-DE 13 30353451 30353451 single base substitution G A intron_variant MALY-DE 13 30355354 30355354 single base substitution A C intron_variant MALY-DE 13 30356541 30356541 single base substitution C A intron_variant MALY-DE 13 30363004 30363023 deletion of <=200bp GTGTGCGCGCGCGCGCGCAC - intron_variant MALY-DE 13 30365123 30365123 single base substitution G A intron_variant MALY-DE 13 30368489 30368490 deletion of <=200bp AC - intron_variant MALY-DE 13 30372009 30372009 single base substitution A C intron_variant MALY-DE 13 30377533 30377533 single base substitution C G intron_variant MALY-DE 13 30377624 30377624 single base substitution G A intron_variant MALY-DE 13 30404664 30404664 single base substitution T G intron_variant MALY-DE 13 30405163 30405163 deletion of <=200bp T - intron_variant MALY-DE 13 30407366 30407366 single base substitution C T intron_variant MALY-DE 13 30410504 30410504 single base substitution T C intron_variant MALY-DE 13 30417006 30417006 single base substitution T A intron_variant MALY-DE 13 30419541 30419541 single base substitution A T intron_variant MALY-DE 13 30425798 30425798 single base substitution G A upstream_gene_variant MELA-AU 13 30333585 30333586 deletion of <=200bp CA - downstream_gene_variant MELA-AU 13 30333780 30333780 deletion of <=200bp G - downstream_gene_variant MELA-AU 13 30333833 30333833 single base substitution G A downstream_gene_variant MELA-AU 13 30334400 30334400 single base substitution G A downstream_gene_variant MELA-AU 13 30334718 30334718 single base substitution T G downstream_gene_variant MELA-AU 13 30335714 30335714 single base substitution G A downstream_gene_variant MELA-AU 13 30336005 30336005 single base substitution T A downstream_gene_variant MELA-AU 13 30337431 30337431 single base substitution A G downstream_gene_variant MELA-AU 13 30339023 30339023 single base substitution G A 3_prime_UTR_variant MELA-AU 13 30339024 30339024 single base substitution G A 3_prime_UTR_variant MELA-AU 13 30339057 30339057 single base substitution C A 3_prime_UTR_variant MELA-AU 13 30339740 30339740 single base substitution C T 3_prime_UTR_variant MELA-AU 13 30340210 30340210 single base substitution A G 3_prime_UTR_variant MELA-AU 13 30341820 30341821 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P79F 235CC>TT MELA-AU 13 30344598 30344598 single base substitution G A intron_variant MELA-AU 13 30345972 30345972 single base substitution G A intron_variant MELA-AU 13 30346192 30346192 single base substitution A T intron_variant MELA-AU 13 30348041 30348041 single base substitution G A intron_variant MELA-AU 13 30348262 30348262 single base substitution C A intron_variant MELA-AU 13 30348627 30348627 single base substitution G T intron_variant MELA-AU 13 30350901 30350901 single base substitution G A intron_variant MELA-AU 13 30350915 30350915 single base substitution G A intron_variant MELA-AU 13 30350986 30350986 single base substitution G A intron_variant MELA-AU 13 30350994 30350994 single base substitution G A intron_variant MELA-AU 13 30351891 30351891 single base substitution G A intron_variant MELA-AU 13 30352247 30352247 single base substitution A T intron_variant MELA-AU 13 30352999 30352999 single base substitution G A intron_variant MELA-AU 13 30353543 30353543 single base substitution A T intron_variant MELA-AU 13 30353756 30353758 deletion of <=200bp AAT - intron_variant MELA-AU 13 30354545 30354545 single base substitution A G intron_variant MELA-AU 13 30355135 30355135 single base substitution A C intron_variant MELA-AU 13 30356860 30356860 single base substitution G A intron_variant MELA-AU 13 30356865 30356865 single base substitution C T intron_variant MELA-AU 13 30358155 30358155 single base substitution C A intron_variant MELA-AU 13 30358296 30358296 single base substitution G A intron_variant MELA-AU 13 30358321 30358321 single base substitution T A intron_variant MELA-AU 13 30358703 30358703 single base substitution G A intron_variant MELA-AU 13 30359285 30359285 single base substitution C T intron_variant MELA-AU 13 30359415 30359415 single base substitution G A intron_variant MELA-AU 13 30359565 30359565 single base substitution G A intron_variant MELA-AU 13 30360318 30360320 deletion of <=200bp CTA - intron_variant MELA-AU 13 30360861 30360861 single base substitution G A intron_variant MELA-AU 13 30362577 30362577 single base substitution G A intron_variant MELA-AU 13 30362874 30362874 single base substitution A G intron_variant MELA-AU 13 30364688 30364688 single base substitution G A intron_variant MELA-AU 13 30365185 30365185 single base substitution C T intron_variant MELA-AU 13 30366537 30366537 single base substitution G A intron_variant MELA-AU 13 30366826 30366826 single base substitution G A intron_variant MELA-AU 13 30367613 30367613 single base substitution G A intron_variant MELA-AU 13 30367915 30367915 single base substitution G A intron_variant MELA-AU 13 30368857 30368857 single base substitution C T intron_variant MELA-AU 13 30369475 30369475 single base substitution G A intron_variant MELA-AU 13 30369875 30369875 single base substitution A G intron_variant MELA-AU 13 30370214 30370214 single base substitution G A intron_variant MELA-AU 13 30371233 30371233 single base substitution G A intron_variant MELA-AU 13 30371968 30371968 single base substitution C T intron_variant MELA-AU 13 30372432 30372432 single base substitution G A intron_variant MELA-AU 13 30372704 30372704 single base substitution A G intron_variant MELA-AU 13 30372831 30372831 single base substitution A G intron_variant MELA-AU 13 30373495 30373495 single base substitution G A intron_variant MELA-AU 13 30373829 30373829 single base substitution G A intron_variant MELA-AU 13 30374341 30374341 single base substitution T A intron_variant MELA-AU 13 30374973 30374973 single base substitution T C intron_variant MELA-AU 13 30375541 30375541 single base substitution G A intron_variant MELA-AU 13 30375795 30375795 single base substitution G A intron_variant MELA-AU 13 30376604 30376604 single base substitution G A intron_variant MELA-AU 13 30378037 30378037 single base substitution G T intron_variant MELA-AU 13 30378367 30378367 single base substitution A G intron_variant MELA-AU 13 30378844 30378844 single base substitution G A intron_variant MELA-AU 13 30378867 30378867 single base substitution C T intron_variant MELA-AU 13 30379428 30379429 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 30379505 30379505 single base substitution G A intron_variant MELA-AU 13 30380006 30380007 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 30380529 30380529 single base substitution T A intron_variant MELA-AU 13 30380531 30380531 single base substitution A T intron_variant MELA-AU 13 30380682 30380682 single base substitution A T intron_variant MELA-AU 13 30381198 30381198 single base substitution G A intron_variant MELA-AU 13 30381786 30381786 single base substitution A G intron_variant MELA-AU 13 30382227 30382227 single base substitution G A intron_variant MELA-AU 13 30382974 30382974 single base substitution G A intron_variant MELA-AU 13 30383450 30383450 single base substitution G C intron_variant MELA-AU 13 30383648 30383648 single base substitution G A intron_variant MELA-AU 13 30383871 30383871 single base substitution G A intron_variant MELA-AU 13 30385501 30385501 deletion of <=200bp C - intron_variant MELA-AU 13 30385982 30385982 deletion of <=200bp T - intron_variant MELA-AU 13 30387237 30387237 single base substitution G A intron_variant MELA-AU 13 30390457 30390457 single base substitution G T intron_variant MELA-AU 13 30391256 30391256 single base substitution A G intron_variant MELA-AU 13 30393168 30393168 single base substitution T C intron_variant MELA-AU 13 30393620 30393620 single base substitution G A intron_variant MELA-AU 13 30395385 30395385 single base substitution T C intron_variant MELA-AU 13 30396217 30396217 single base substitution A G intron_variant MELA-AU 13 30396534 30396534 single base substitution G A intron_variant MELA-AU 13 30397320 30397321 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 30398432 30398432 single base substitution A G intron_variant MELA-AU 13 30399269 30399269 single base substitution A G intron_variant MELA-AU 13 30399729 30399729 single base substitution G A intron_variant MELA-AU 13 30399769 30399769 single base substitution A G intron_variant MELA-AU 13 30400362 30400362 single base substitution G A intron_variant MELA-AU 13 30400563 30400563 single base substitution G C intron_variant MELA-AU 13 30401709 30401710 deletion of <=200bp TC - intron_variant MELA-AU 13 30401861 30401861 single base substitution G A intron_variant MELA-AU 13 30402331 30402331 single base substitution C T intron_variant MELA-AU 13 30402676 30402677 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 30402828 30402828 single base substitution C T intron_variant MELA-AU 13 30403077 30403077 single base substitution C T intron_variant MELA-AU 13 30403467 30403467 single base substitution G A intron_variant MELA-AU 13 30403964 30403964 single base substitution G A intron_variant MELA-AU 13 30404655 30404655 single base substitution T A intron_variant MELA-AU 13 30404836 30404836 single base substitution C T intron_variant MELA-AU 13 30404977 30404977 single base substitution G A intron_variant MELA-AU 13 30405385 30405385 single base substitution G A intron_variant MELA-AU 13 30405387 30405387 single base substitution A T intron_variant MELA-AU 13 30405502 30405502 single base substitution G A intron_variant MELA-AU 13 30406297 30406297 single base substitution A G intron_variant MELA-AU 13 30407439 30407439 single base substitution G A intron_variant MELA-AU 13 30407694 30407694 single base substitution A C intron_variant MELA-AU 13 30408144 30408144 single base substitution G A intron_variant MELA-AU 13 30409880 30409880 single base substitution G A intron_variant MELA-AU 13 30410289 30410289 single base substitution T C intron_variant MELA-AU 13 30410488 30410488 single base substitution T C intron_variant MELA-AU 13 30411604 30411604 single base substitution G A intron_variant MELA-AU 13 30411643 30411643 single base substitution G A intron_variant MELA-AU 13 30411993 30411993 single base substitution G A intron_variant MELA-AU 13 30412132 30412132 single base substitution G A intron_variant MELA-AU 13 30412453 30412453 single base substitution G A intron_variant MELA-AU 13 30412819 30412819 single base substitution G A intron_variant MELA-AU 13 30413602 30413602 single base substitution T C intron_variant MELA-AU 13 30414071 30414071 single base substitution A G intron_variant MELA-AU 13 30414701 30414701 single base substitution A T intron_variant MELA-AU 13 30415546 30415546 single base substitution G A intron_variant MELA-AU 13 30416565 30416565 single base substitution G A intron_variant MELA-AU 13 30416928 30416928 single base substitution T C intron_variant MELA-AU 13 30417360 30417360 single base substitution T G intron_variant MELA-AU 13 30417468 30417468 single base substitution A C intron_variant MELA-AU 13 30418064 30418064 single base substitution G A intron_variant MELA-AU 13 30418133 30418133 single base substitution A G intron_variant MELA-AU 13 30418232 30418232 single base substitution C A intron_variant MELA-AU 13 30419903 30419903 single base substitution T A intron_variant MELA-AU 13 30420550 30420550 single base substitution T C intron_variant MELA-AU 13 30420643 30420643 single base substitution G A intron_variant MELA-AU 13 30420945 30420945 single base substitution T C intron_variant MELA-AU 13 30421311 30421311 single base substitution T C intron_variant MELA-AU 13 30421342 30421342 single base substitution A G intron_variant MELA-AU 13 30421358 30421358 single base substitution A G intron_variant MELA-AU 13 30422092 30422092 single base substitution A G intron_variant MELA-AU 13 30422779 30422779 insertion of <=200bp - CATT intron_variant MELA-AU 13 30424021 30424021 single base substitution G A 5_prime_UTR_variant MELA-AU 13 30424527 30424527 single base substitution C T 5_prime_UTR_variant MELA-AU 13 30424881 30424881 single base substitution C G upstream_gene_variant MELA-AU 13 30425225 30425225 single base substitution A G upstream_gene_variant MELA-AU 13 30425262 30425262 single base substitution C T upstream_gene_variant MELA-AU 13 30425470 30425470 single base substitution C T upstream_gene_variant MELA-AU 13 30426241 30426241 single base substitution G A upstream_gene_variant MELA-AU 13 30426489 30426489 single base substitution G A upstream_gene_variant MELA-AU 13 30426621 30426622 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 13 30427511 30427511 single base substitution C T upstream_gene_variant MELA-AU 13 30428144 30428144 single base substitution G A upstream_gene_variant MELA-AU 13 30428579 30428579 single base substitution G A upstream_gene_variant MELA-AU 13 30428767 30428767 single base substitution G A upstream_gene_variant MELA-AU 13 30429737 30429737 single base substitution C T upstream_gene_variant MELA-AU 13 30429738 30429738 single base substitution C T upstream_gene_variant ORCA-IN 13 30357296 30357296 single base substitution C A intron_variant ORCA-IN 13 30359081 30359081 single base substitution C T intron_variant ORCA-IN 13 30363617 30363617 single base substitution T C intron_variant OV-AU 13 30334604 30334604 single base substitution G A downstream_gene_variant OV-AU 13 30335277 30335277 single base substitution C T downstream_gene_variant OV-AU 13 30338633 30338633 single base substitution C T 3_prime_UTR_variant OV-AU 13 30343140 30343140 single base substitution C A intron_variant OV-AU 13 30346530 30346530 single base substitution G C intron_variant OV-AU 13 30348577 30348577 single base substitution C A intron_variant OV-AU 13 30354110 30354110 single base substitution C A intron_variant OV-AU 13 30354543 30354543 single base substitution G A intron_variant OV-AU 13 30358348 30358348 single base substitution G C intron_variant OV-AU 13 30362294 30362294 single base substitution T A intron_variant OV-AU 13 30364338 30364338 single base substitution T C intron_variant OV-AU 13 30369159 30369159 single base substitution G C intron_variant OV-AU 13 30372349 30372349 single base substitution G C intron_variant OV-AU 13 30381640 30381640 single base substitution T G intron_variant OV-AU 13 30384111 30384111 single base substitution A C intron_variant OV-AU 13 30387018 30387018 single base substitution T C intron_variant OV-AU 13 30399287 30399287 single base substitution A C intron_variant OV-AU 13 30406528 30406528 single base substitution G A intron_variant OV-AU 13 30406861 30406861 single base substitution G A intron_variant OV-AU 13 30410820 30410820 single base substitution G A intron_variant OV-AU 13 30422594 30422594 single base substitution C G intron_variant OV-AU 13 30424723 30424723 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 13 30337964 30337964 single base substitution C G downstream_gene_variant PACA-AU 13 30338200 30338200 single base substitution G A downstream_gene_variant PACA-AU 13 30338266 30338266 single base substitution A G downstream_gene_variant PACA-AU 13 30349845 30349845 single base substitution C T intron_variant PACA-AU 13 30351271 30351271 single base substitution C T intron_variant PACA-AU 13 30357636 30357636 single base substitution T C intron_variant PACA-AU 13 30359035 30359035 single base substitution G A intron_variant PACA-AU 13 30362416 30362416 single base substitution C A intron_variant PACA-AU 13 30362417 30362417 single base substitution C A intron_variant PACA-AU 13 30371950 30371950 single base substitution T C intron_variant PACA-AU 13 30375128 30375128 single base substitution T G intron_variant PACA-AU 13 30377336 30377336 single base substitution T C intron_variant PACA-AU 13 30385172 30385172 single base substitution C G intron_variant PACA-AU 13 30392153 30392153 single base substitution T C intron_variant PACA-AU 13 30397502 30397502 single base substitution T G intron_variant PACA-AU 13 30399830 30399830 single base substitution C T intron_variant PACA-AU 13 30414073 30414073 single base substitution A G intron_variant PACA-AU 13 30414358 30414358 single base substitution C A intron_variant PACA-AU 13 30422724 30422724 single base substitution C T intron_variant PACA-AU 13 30422992 30422992 single base substitution T C intron_variant PACA-AU 13 30424431 30424431 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 13 30335359 30335359 single base substitution G A downstream_gene_variant PACA-CA 13 30341572 30341572 single base substitution G C intron_variant PACA-CA 13 30342844 30342844 deletion of <=200bp T - intron_variant PACA-CA 13 30345681 30345681 single base substitution A C intron_variant PACA-CA 13 30346152 30346152 insertion of <=200bp - TT intron_variant PACA-CA 13 30347155 30347155 single base substitution G A intron_variant PACA-CA 13 30347772 30347773 deletion of <=200bp AG - intron_variant PACA-CA 13 30348039 30348039 single base substitution A G intron_variant PACA-CA 13 30353088 30353088 single base substitution G T intron_variant PACA-CA 13 30354418 30354418 single base substitution G A intron_variant PACA-CA 13 30360774 30360774 single base substitution T C intron_variant PACA-CA 13 30363715 30363715 single base substitution G A intron_variant PACA-CA 13 30366682 30366682 single base substitution C T intron_variant PACA-CA 13 30367637 30367637 single base substitution C T intron_variant PACA-CA 13 30368171 30368171 single base substitution T A intron_variant PACA-CA 13 30370891 30370891 single base substitution T C intron_variant PACA-CA 13 30373092 30373092 single base substitution A T intron_variant PACA-CA 13 30374037 30374037 single base substitution G A intron_variant PACA-CA 13 30374739 30374739 deletion of <=200bp A - intron_variant PACA-CA 13 30378146 30378146 single base substitution A G intron_variant PACA-CA 13 30381693 30381693 single base substitution G A intron_variant PACA-CA 13 30382327 30382327 single base substitution G A intron_variant PACA-CA 13 30390130 30390130 single base substitution T C intron_variant PACA-CA 13 30391138 30391138 single base substitution C T intron_variant PACA-CA 13 30391809 30391809 single base substitution C T intron_variant PACA-CA 13 30393197 30393197 single base substitution A G intron_variant PACA-CA 13 30397148 30397148 single base substitution G T intron_variant PACA-CA 13 30398868 30398868 single base substitution T C intron_variant PACA-CA 13 30399693 30399693 single base substitution A T intron_variant PACA-CA 13 30399694 30399694 single base substitution C A intron_variant PACA-CA 13 30404380 30404380 single base substitution C T intron_variant PACA-CA 13 30405858 30405858 single base substitution C T intron_variant PACA-CA 13 30410298 30410298 single base substitution G A intron_variant PACA-CA 13 30410517 30410517 deletion of <=200bp A - intron_variant PACA-CA 13 30412418 30412418 single base substitution A C intron_variant PACA-CA 13 30413880 30413880 single base substitution C T intron_variant PACA-CA 13 30414532 30414532 single base substitution T A intron_variant PACA-CA 13 30415901 30415901 single base substitution A C intron_variant PACA-CA 13 30419521 30419521 single base substitution C A intron_variant PAEN-AU 13 30388368 30388368 single base substitution T C intron_variant PAEN-AU 13 30410488 30410488 single base substitution T C intron_variant PAEN-AU 13 30423125 30423125 single base substitution T C intron_variant PAEN-IT 13 30349455 30349455 single base substitution C T intron_variant PAEN-IT 13 30359081 30359081 single base substitution C T intron_variant PAEN-IT 13 30395927 30395927 single base substitution C T intron_variant PAEN-IT 13 30427409 30427409 single base substitution A T upstream_gene_variant PBCA-DE 13 30333860 30333860 single base substitution C A downstream_gene_variant PBCA-DE 13 30340736 30340736 single base substitution C A 3_prime_UTR_variant PBCA-DE 13 30346393 30346397 deletion of <=200bp TATAT - intron_variant PBCA-DE 13 30350641 30350641 single base substitution C T intron_variant PBCA-DE 13 30351596 30351597 deletion of <=200bp GT - intron_variant PBCA-DE 13 30352431 30352431 single base substitution T C intron_variant PBCA-DE 13 30352469 30352469 single base substitution T A intron_variant PBCA-DE 13 30352941 30352941 single base substitution G A intron_variant PBCA-DE 13 30353492 30353492 single base substitution C G intron_variant PBCA-DE 13 30361889 30361889 single base substitution G C intron_variant PBCA-DE 13 30367993 30367993 insertion of <=200bp - T intron_variant PBCA-DE 13 30368179 30368179 single base substitution C T intron_variant PBCA-DE 13 30392238 30392238 single base substitution T C intron_variant PBCA-DE 13 30410504 30410504 single base substitution T C intron_variant PBCA-DE 13 30412053 30412055 deletion of <=200bp AAT - intron_variant PRAD-CA 13 30345330 30345330 single base substitution T C intron_variant PRAD-CA 13 30354335 30354335 single base substitution C G intron_variant PRAD-CA 13 30358767 30358767 single base substitution A G intron_variant PRAD-CA 13 30371056 30371056 single base substitution T C intron_variant PRAD-CA 13 30383525 30383525 single base substitution A G intron_variant PRAD-CA 13 30389291 30389291 single base substitution T C intron_variant PRAD-CA 13 30389440 30389440 single base substitution G T intron_variant PRAD-CA 13 30395004 30395004 single base substitution T A intron_variant PRAD-CA 13 30416856 30416856 single base substitution G C intron_variant PRAD-UK 13 30374872 30374872 deletion of <=200bp A - intron_variant PRAD-UK 13 30375734 30375734 single base substitution C T intron_variant PRAD-UK 13 30379267 30379267 single base substitution C G intron_variant PRAD-UK 13 30398090 30398090 single base substitution C T intron_variant PRAD-UK 13 30399726 30399726 deletion of <=200bp A - intron_variant PRAD-UK 13 30416364 30416364 single base substitution T A intron_variant PRAD-UK 13 30426692 30426692 single base substitution T G upstream_gene_variant RECA-EU 13 30352958 30352958 single base substitution G T intron_variant RECA-EU 13 30357817 30357817 single base substitution A C intron_variant RECA-EU 13 30395616 30395616 single base substitution G A intron_variant RECA-EU 13 30399782 30399782 single base substitution C A intron_variant RECA-EU 13 30401611 30401611 single base substitution C T intron_variant RECA-EU 13 30410880 30410880 single base substitution C A intron_variant RECA-EU 13 30423253 30423253 single base substitution A G intron_variant RECA-EU 13 30426692 30426692 single base substitution T C upstream_gene_variant SKCA-BR 13 30333806 30333806 single base substitution T G downstream_gene_variant SKCA-BR 13 30342290 30342290 single base substitution A G intron_variant SKCA-BR 13 30343913 30343913 single base substitution G A intron_variant SKCA-BR 13 30347548 30347548 single base substitution C G intron_variant SKCA-BR 13 30351887 30351887 single base substitution A G intron_variant SKCA-BR 13 30354506 30354506 single base substitution T A intron_variant SKCA-BR 13 30354525 30354525 insertion of <=200bp - ATG intron_variant SKCA-BR 13 30354525 30354525 single base substitution A G intron_variant SKCA-BR 13 30354527 30354527 single base substitution A G intron_variant SKCA-BR 13 30354561 30354561 insertion of <=200bp - TTA intron_variant SKCA-BR 13 30356462 30356462 single base substitution T C intron_variant SKCA-BR 13 30358137 30358163 deletion of <=200bp AAAACAAATCAGACAAGACTATTAGTG - intron_variant SKCA-BR 13 30359861 30359861 single base substitution C T intron_variant SKCA-BR 13 30362997 30362997 single base substitution T C intron_variant SKCA-BR 13 30365335 30365335 single base substitution C T intron_variant SKCA-BR 13 30367812 30367812 single base substitution T C intron_variant SKCA-BR 13 30368488 30368488 insertion of <=200bp - TAC intron_variant SKCA-BR 13 30374757 30374757 single base substitution G A intron_variant SKCA-BR 13 30378469 30378469 single base substitution A G intron_variant SKCA-BR 13 30381474 30381474 single base substitution T C intron_variant SKCA-BR 13 30384948 30384948 single base substitution T G intron_variant SKCA-BR 13 30393637 30393637 single base substitution G A intron_variant SKCA-BR 13 30393921 30393921 single base substitution G A intron_variant SKCA-BR 13 30401528 30401528 single base substitution G A intron_variant SKCA-BR 13 30405120 30405120 single base substitution C T intron_variant SKCA-BR 13 30405730 30405731 deletion of <=200bp GA - intron_variant SKCA-BR 13 30408919 30408920 deletion of <=200bp GA - intron_variant SKCA-BR 13 30409220 30409222 deletion of <=200bp AAT - intron_variant SKCA-BR 13 30409220 30409278 deletion of <=200bp AATATAAATATATATATATATATAAATATATATATATATATAAATATATATATATATAT - intron_variant SKCA-BR 13 30409250 30409250 single base substitution T A intron_variant SKCA-BR 13 30409256 30409256 single base substitution T A intron_variant SKCA-BR 13 30409258 30409262 deletion of <=200bp TATAA - intron_variant SKCA-BR 13 30409286 30409286 single base substitution T A intron_variant SKCA-BR 13 30409288 30409288 single base substitution T A intron_variant SKCA-BR 13 30409290 30409290 single base substitution T A intron_variant SKCA-BR 13 30412052 30412052 insertion of <=200bp - CAATAATAATAATAAT intron_variant SKCA-BR 13 30415876 30415876 single base substitution A T intron_variant SKCA-BR 13 30416262 30416262 single base substitution A C intron_variant SKCA-BR 13 30419594 30419594 single base substitution G A intron_variant SKCA-BR 13 30424201 30424201 single base substitution G T 5_prime_UTR_variant STAD-US 13 30341433 30341433 single base substitution G A missense_variant R105C 313C>T STAD-US 13 30341767 30341767 single base substitution G C missense_variant P97A 289C>G STAD-US 13 30346289 30346289 single base substitution A C missense_variant I61M 183T>G THCA-SA 13 30424186 30424186 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 13 30341437 30341437 single base substitution C T synonymous_variant R103R 309G>A UCEC-US 13 30351373 30351373 single base substitution C T missense_variant G19R 55G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand OVCAR-4 COSM1677580 c.17C>G p.P6R Substitution - Missense 13:29849522-29849522 - HT115 COSM184776 c.176G>A p.R59Q Substitution - Missense 13:29772159-29772159 - TCGA-46-6025-01 COSM696786 c.26T>C p.M9T Substitution - Missense 13:29849513-29849513 - ODG10 COSM5731521 c.147_149delAGA p.E50delE Deletion - In frame 13:29772186-29772188 - TCGA-BR-8680-01 COSM4046960 c.183T>G p.I61M Substitution - Missense 13:29772152-29772152 - RK023_C01 COSM1629048 c.164_165insC p.N56fs*51 Insertion - Frameshift 13:29772170-29772171 - TCGA-DK-A1AC-01 COSM1300126 c.296C>G p.S99C Substitution - Missense 13:29767623-29767623 - SNU-C1 COSM2070740 c.106G>T p.A36S Substitution - Missense 13:29777185-29777185 - 3844_T COSM3955522 c.38G>T p.R13L Substitution - Missense 13:29777253-29777253 - J30_T COSM3955521 c.115G>T p.V39L Substitution - Missense 13:29777176-29777176 - 2497767 COSM5750043 c.313C>G p.R105G Substitution - Missense 13:29767296-29767296 - ESCC_118 COSM5640174 c.187C>G p.Q63E Substitution - Missense 13:29772148-29772148 - RK182_C01 COSM1629047 c.236delC p.P79fs*7 Deletion - Frameshift 13:29767683-29767683 - CHEWS029 COSM4575897 c.42C>T p.L14L Substitution - coding silent 13:29777249-29777249 - TCGA-CG-4306-01 COSM4046958 c.313C>T p.R105C Substitution - Missense 13:29767296-29767296 - SWE-2A COSM1178154 c.107C>A p.A36E Substitution - Missense 13:29777184-29777184 - TCGA-BH-A0BV-01 COSM432282 c.37C>T p.R13C Substitution - Missense 13:29777254-29777254 - TCGA-AP-A0LM-01 COSM946607 c.55G>A p.G19R Substitution - Missense 13:29777236-29777236 - TCGA-CG-4305-01 COSM4046959 c.289C>G p.P97A Substitution - Missense 13:29767630-29767630 - TCGA-BS-A0UF-01 COSM946606 c.309G>A p.R103R Substitution - coding silent 13:29767300-29767300 - LP6007427-DNA_A01 COSM5035322 c.122A>G p.D41G Substitution - Missense 13:29777169-29777169 - pfg081T COSM4746884 c.1_27+83del110 p.? Unknown ESCC_158 COSM5646634 c.340T>C p.C114R Substitution - Missense 13:29767269-29767269 - CSCC-59-T COSM4451361 c.117A>G p.V39V Substitution - coding silent 13:29777174-29777174 - HCC2998 COSM2070739 c.195A>G p.R65R Substitution - coding silent 13:29772140-29772140 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.145573;Hs.145575 13q12-q13 604711

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer ACA - InFrameDeletion p.C114delC c.340_342delTGT 13 30341404 LGG A G Missense p.M9T c.26T>C 13 30423650 LUSC A T IntronicSNV . c.137-61T>A 13 30346396 NSCLC G A Missense p.R105C c.313C>T 13 30341433 STAD G A Missense p.R13C c.37C>T 13 30351391 BRCA G A Nonsense p.R59* c.175C>T 13 30346297 CM G C Missense p.P97A c.289C>G 13 30341767 STAD - G Frameshift p.N56Kfs*51 c.164dupC 13 30346308 HC T C 3-UTRSNV . c.351+1029A>G 13 30340366 HC T C 3-UTRSNV . c.351+1626A>G 13 30339769 HC