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 19 14640521 14640521 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr19:14640521G>A c.13G>A c.(13-15)Gag>Aag p.E5K BLCA 19 14640523 14640523 + Splice_Site SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr19:14640523G>A c.15G>A c.(13-15)gaG>gaA p.E5E BLCA 19 14673366 14673366 + Silent SNP G G A TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr19:14673366G>A c.45G>A c.(43-45)gaG>gaA p.E15E BLCA 19 14674037 14674037 + Missense_Mutation SNP T T C TCGA-XF-A9SV-01A-21D-A42E-08 TCGA-XF-A9SV-10A-01D-A42H-08 g.chr19:14674037T>C c.86T>C c.(85-87)aTt>aCt p.I29T BLCA 19 14675641 14675641 + Missense_Mutation SNP A A C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 g.chr19:14675641A>C c.533A>C c.(532-534)tAc>tCc p.Y178S BLCA 19 14675655 14675655 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr19:14675655C>G c.547C>G c.(547-549)Ctc>Gtc p.L183V BRCA 19 14674030 14674030 + Missense_Mutation SNP G G A TCGA-B6-A1KF-01A-11D-A13L-09 TCGA-B6-A1KF-10A-01W-A14R-09 g.chr19:14674030G>A c.79G>A c.(79-81)Gcc>Acc p.A27T COAD 19 14673380 14673380 + Missense_Mutation SNP T T C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr19:14673380T>C c.59T>C c.(58-60)tTg>tCg p.L20S COAD 19 14674030 14674030 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr19:14674030G>A c.79G>A c.(79-81)Gcc>Acc p.A27T COAD 19 14675032 14675032 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr19:14675032G>A c.422G>A c.(421-423)cGc>cAc p.R141H COADREAD 19 14673380 14673380 + Missense_Mutation SNP T T C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr19:14673380T>C c.59T>C c.(58-60)tTg>tCg p.L20S COADREAD 19 14674030 14674030 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr19:14674030G>A c.79G>A c.(79-81)Gcc>Acc p.A27T COADREAD 19 14675032 14675032 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr19:14675032G>A c.422G>A c.(421-423)cGc>cAc p.R141H ESCA 19 14675792 14675792 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr19:14675792C>T c.594C>T c.(592-594)ctC>ctT p.L198L HNSC 19 14674476 14674476 + Missense_Mutation SNP A A T TCGA-CV-7245-01A-11D-2012-08 TCGA-CV-7245-10A-01D-2013-08 g.chr19:14674476A>T c.125A>T c.(124-126)cAg>cTg p.Q42L HNSC 19 14675667 14675667 + Missense_Mutation SNP C C T TCGA-BB-4223-01A-01D-1434-08 TCGA-BB-4223-10A-01D-1434-08 g.chr19:14675667C>T c.559C>T c.(559-561)Cct>Tct p.P187S HNSC 19 14676041 14676041 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr19:14676041C>T c.692C>T c.(691-693)cCc>cTc p.P231L KIPAN 19 14674655 14674657 + In_Frame_Del DEL CGT CGT - TCGA-HE-A5NI-01A-11D-A26P-10 TCGA-HE-A5NI-10A-01D-A26P-10 g.chr19:14674655_14674657delCGT c.207_209delCGT c.(205-210)cccgtg>ccg p.V70del KIRP 19 14674655 14674657 + In_Frame_Del DEL CGT CGT - TCGA-HE-A5NI-01A-11D-A26P-10 TCGA-HE-A5NI-10A-01D-A26P-10 g.chr19:14674655_14674657delCGT c.207_209delCGT c.(205-210)cccgtg>ccg p.V70del LIHC 19 14674897 14674897 + Missense_Mutation SNP A A G TCGA-CC-A8HT-01A-11D-A35Z-10 TCGA-CC-A8HT-10A-01D-A35Z-10 g.chr19:14674897A>G c.371A>G c.(370-372)cAt>cGt p.H124R LUAD 19 14674070 14674070 + Splice_Site SNP G G C TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr19:14674070G>C c.e3+1 LUAD 19 14674876 14674876 + Missense_Mutation SNP A A G TCGA-55-A491-01A-11D-A24D-08 TCGA-55-A491-10A-01D-A24F-08 g.chr19:14674876A>G c.350A>G c.(349-351)tAt>tGt p.Y117C LUAD 19 14674910 14674911 + Splice_Site INS - - T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 g.chr19:14674910_14674911insT c.e6+1 OV 19 14674819 14674819 + Missense_Mutation SNP C C T TCGA-36-2537-01A-01D-1526-09 TCGA-36-2537-10A-01D-1526-09 g.chr19:14674819C>T c.293C>T c.(292-294)cCc>cTc p.P98L PAAD 19 14676616 14676616 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:14676616G>A c.860G>A c.(859-861)cGc>cAc p.R287H PAAD 19 14676647 14676647 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:14676647G>A c.891G>A c.(889-891)ccG>ccA p.P297P SKCM 19 14674675 14674675 + Missense_Mutation SNP T T A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 g.chr19:14674675T>A c.227T>A c.(226-228)cTg>cAg p.L76Q SKCM 19 14675058 14675058 + Missense_Mutation SNP C C T TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr19:14675058C>T c.448C>T c.(448-450)Cgc>Tgc p.R150C SKCM 19 14676599 14676599 + Nonsense_Mutation SNP G G A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr19:14676599G>A c.843G>A c.(841-843)tgG>tgA p.W281*

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 19 14675731 14675731 single base substitution C T downstream_gene_variant BLCA-CN 19 14675731 14675731 single base substitution C T exon_variant BLCA-CN 19 14675731 14675731 single base substitution C T intron_variant BLCA-CN 19 14675731 14675731 single base substitution C T upstream_gene_variant BLCA-US 19 14640523 14640523 single base substitution G A exon_variant BLCA-US 19 14640523 14640523 single base substitution G A intron_variant BLCA-US 19 14640523 14640523 single base substitution G A splice_region_variant BLCA-US 19 14675655 14675655 single base substitution C G 3_prime_UTR_variant BLCA-US 19 14675655 14675655 single base substitution C G downstream_gene_variant BLCA-US 19 14675655 14675655 single base substitution C G exon_variant BLCA-US 19 14675655 14675655 single base substitution C G missense_variant L183V 547C>G BLCA-US 19 14675655 14675655 single base substitution C G missense_variant L198V 592C>G BLCA-US 19 14675655 14675655 single base substitution C G missense_variant L28V 82C>G BLCA-US 19 14675655 14675655 single base substitution C G synonymous_variant L39L 117C>G BLCA-US 19 14675655 14675655 single base substitution C G upstream_gene_variant BOCA-FR 19 14631075 14631075 single base substitution G C intron_variant BRCA-EU 19 14623581 14623582 deletion of <=200bp AC - upstream_gene_variant BRCA-EU 19 14624043 14624043 single base substitution A C upstream_gene_variant BRCA-EU 19 14624568 14624568 single base substitution C T upstream_gene_variant BRCA-EU 19 14624651 14624651 deletion of <=200bp T - upstream_gene_variant BRCA-EU 19 14627177 14627177 single base substitution G A upstream_gene_variant BRCA-EU 19 14627181 14627181 single base substitution C G upstream_gene_variant BRCA-EU 19 14628406 14628406 single base substitution C G intron_variant BRCA-EU 19 14628585 14628585 single base substitution C A intron_variant BRCA-EU 19 14628771 14628773 deletion of <=200bp CTC - intron_variant BRCA-EU 19 14629120 14629120 single base substitution G A intron_variant BRCA-EU 19 14629297 14629297 deletion of <=200bp G - intron_variant BRCA-EU 19 14629397 14629397 single base substitution C T intron_variant BRCA-EU 19 14629857 14629857 single base substitution C T intron_variant BRCA-EU 19 14630790 14630804 deletion of <=200bp GTAACACTGGCTCTG - intron_variant BRCA-EU 19 14632620 14632620 single base substitution G A intron_variant BRCA-EU 19 14634157 14634157 single base substitution C G intron_variant BRCA-EU 19 14635657 14635657 single base substitution C G intron_variant BRCA-EU 19 14635657 14635657 single base substitution C G upstream_gene_variant BRCA-EU 19 14635923 14635923 single base substitution G A intron_variant BRCA-EU 19 14635923 14635923 single base substitution G A upstream_gene_variant BRCA-EU 19 14636185 14636185 single base substitution C G intron_variant BRCA-EU 19 14636185 14636185 single base substitution C G upstream_gene_variant BRCA-EU 19 14636917 14636917 single base substitution C G intron_variant BRCA-EU 19 14636917 14636917 single base substitution C G upstream_gene_variant BRCA-EU 19 14638094 14638094 single base substitution A G intron_variant BRCA-EU 19 14638094 14638094 single base substitution A G upstream_gene_variant BRCA-EU 19 14638422 14638422 single base substitution C T intron_variant BRCA-EU 19 14638422 14638422 single base substitution C T upstream_gene_variant BRCA-EU 19 14639142 14639142 single base substitution C A intron_variant BRCA-EU 19 14639142 14639142 single base substitution C A upstream_gene_variant BRCA-EU 19 14639549 14639549 single base substitution C T intron_variant BRCA-EU 19 14639549 14639549 single base substitution C T upstream_gene_variant BRCA-EU 19 14639643 14639643 single base substitution C G intron_variant BRCA-EU 19 14639643 14639643 single base substitution C G upstream_gene_variant BRCA-EU 19 14640222 14640222 single base substitution C T intron_variant BRCA-EU 19 14640222 14640222 single base substitution C T upstream_gene_variant BRCA-EU 19 14640246 14640246 single base substitution C T intron_variant BRCA-EU 19 14640246 14640246 single base substitution C T upstream_gene_variant BRCA-EU 19 14640344 14640344 single base substitution C T intron_variant BRCA-EU 19 14640344 14640344 single base substitution C T upstream_gene_variant BRCA-EU 19 14640888 14640888 single base substitution T G exon_variant BRCA-EU 19 14640888 14640888 single base substitution T G intron_variant BRCA-EU 19 14641111 14641111 single base substitution C T exon_variant BRCA-EU 19 14641111 14641111 single base substitution C T intron_variant BRCA-EU 19 14641118 14641118 single base substitution C T exon_variant BRCA-EU 19 14641118 14641118 single base substitution C T intron_variant BRCA-EU 19 14641386 14641386 single base substitution C A exon_variant BRCA-EU 19 14641386 14641386 single base substitution C A intron_variant BRCA-EU 19 14641441 14641441 single base substitution C A exon_variant BRCA-EU 19 14641441 14641441 single base substitution C A intron_variant BRCA-EU 19 14641523 14641523 single base substitution C G exon_variant BRCA-EU 19 14641523 14641523 single base substitution C G intron_variant BRCA-EU 19 14642664 14642664 single base substitution C T exon_variant BRCA-EU 19 14642664 14642664 single base substitution C T intron_variant BRCA-EU 19 14643924 14643924 single base substitution A G downstream_gene_variant BRCA-EU 19 14643924 14643924 single base substitution A G intron_variant BRCA-EU 19 14645644 14645644 single base substitution C G downstream_gene_variant BRCA-EU 19 14645644 14645644 single base substitution C G intron_variant BRCA-EU 19 14647278 14647278 single base substitution C T downstream_gene_variant BRCA-EU 19 14647278 14647278 single base substitution C T intron_variant BRCA-EU 19 14650221 14650221 single base substitution G T intron_variant BRCA-EU 19 14651745 14651745 single base substitution C G intron_variant BRCA-EU 19 14651745 14651745 single base substitution C G upstream_gene_variant BRCA-EU 19 14652307 14652307 single base substitution A T intron_variant BRCA-EU 19 14652307 14652307 single base substitution A T upstream_gene_variant BRCA-EU 19 14653258 14653258 single base substitution C G intron_variant BRCA-EU 19 14653258 14653258 single base substitution C G upstream_gene_variant BRCA-EU 19 14653521 14653521 single base substitution C G intron_variant BRCA-EU 19 14653521 14653521 single base substitution C G upstream_gene_variant BRCA-EU 19 14653853 14653853 single base substitution G C intron_variant BRCA-EU 19 14653853 14653853 single base substitution G C upstream_gene_variant BRCA-EU 19 14656020 14656020 single base substitution C G intron_variant BRCA-EU 19 14656020 14656020 single base substitution C G upstream_gene_variant BRCA-EU 19 14656216 14656216 single base substitution C T intron_variant BRCA-EU 19 14656216 14656216 single base substitution C T upstream_gene_variant BRCA-EU 19 14656226 14656226 single base substitution C A intron_variant BRCA-EU 19 14656226 14656226 single base substitution C A upstream_gene_variant BRCA-EU 19 14657026 14657026 single base substitution C A intron_variant BRCA-EU 19 14657916 14657916 single base substitution G C intron_variant BRCA-EU 19 14658645 14658645 insertion of <=200bp - T intron_variant BRCA-EU 19 14659694 14659694 single base substitution A T intron_variant BRCA-EU 19 14660109 14660109 single base substitution C G intron_variant BRCA-EU 19 14660898 14660898 single base substitution C G intron_variant BRCA-EU 19 14661248 14661248 single base substitution C G intron_variant BRCA-EU 19 14661820 14661820 single base substitution T G intron_variant BRCA-EU 19 14662166 14662166 single base substitution C G intron_variant BRCA-EU 19 14662726 14662726 single base substitution C T intron_variant BRCA-EU 19 14663191 14663191 single base substitution G C intron_variant BRCA-EU 19 14664400 14664400 single base substitution C G intron_variant BRCA-EU 19 14665203 14665203 single base substitution C G intron_variant BRCA-EU 19 14665559 14665559 single base substitution A G intron_variant BRCA-EU 19 14666553 14666553 single base substitution A C intron_variant BRCA-EU 19 14666980 14666980 single base substitution G A intron_variant BRCA-EU 19 14667220 14667220 single base substitution C G intron_variant BRCA-EU 19 14668284 14668284 single base substitution G A intron_variant BRCA-EU 19 14668284 14668284 single base substitution G A upstream_gene_variant BRCA-EU 19 14669643 14669643 single base substitution T G intron_variant BRCA-EU 19 14669643 14669643 single base substitution T G upstream_gene_variant BRCA-EU 19 14669795 14669796 deletion of <=200bp GT - intron_variant BRCA-EU 19 14669795 14669796 deletion of <=200bp GT - upstream_gene_variant BRCA-EU 19 14671142 14671142 single base substitution C G intron_variant BRCA-EU 19 14671142 14671142 single base substitution C G upstream_gene_variant BRCA-EU 19 14671215 14671215 single base substitution G A intron_variant BRCA-EU 19 14671215 14671215 single base substitution G A upstream_gene_variant BRCA-EU 19 14676541 14676541 single base substitution C T downstream_gene_variant BRCA-EU 19 14676541 14676541 single base substitution C T exon_variant BRCA-EU 19 14676541 14676541 single base substitution C T intron_variant BRCA-EU 19 14676859 14676859 single base substitution C G downstream_gene_variant BRCA-EU 19 14679533 14679533 single base substitution G A downstream_gene_variant BRCA-EU 19 14679534 14679534 insertion of <=200bp - AA downstream_gene_variant BRCA-EU 19 14681247 14681247 single base substitution C T downstream_gene_variant BRCA-FR 19 14642367 14642367 single base substitution C T exon_variant BRCA-FR 19 14642367 14642367 single base substitution C T intron_variant BRCA-FR 19 14642664 14642664 single base substitution C T exon_variant BRCA-FR 19 14642664 14642664 single base substitution C T intron_variant BRCA-FR 19 14645644 14645644 single base substitution C G downstream_gene_variant BRCA-FR 19 14645644 14645644 single base substitution C G intron_variant BRCA-FR 19 14651745 14651745 single base substitution C G intron_variant BRCA-FR 19 14651745 14651745 single base substitution C G upstream_gene_variant BRCA-FR 19 14656020 14656020 single base substitution C G intron_variant BRCA-FR 19 14656020 14656020 single base substitution C G upstream_gene_variant BRCA-FR 19 14660898 14660898 single base substitution C G intron_variant BRCA-FR 19 14665203 14665203 single base substitution C G intron_variant BRCA-UK 19 14626937 14626937 insertion of <=200bp - ATC upstream_gene_variant BRCA-UK 19 14636185 14636185 single base substitution C G intron_variant BRCA-UK 19 14636185 14636185 single base substitution C G upstream_gene_variant BRCA-UK 19 14664816 14664816 single base substitution G A intron_variant BRCA-US 19 14627523 14627525 deletion of <=200bp TCT - upstream_gene_variant BRCA-US 19 14629014 14629014 single base substitution C G intron_variant BRCA-US 19 14674030 14674030 single base substitution G A 5_prime_UTR_variant BRCA-US 19 14674030 14674030 single base substitution G A exon_variant BRCA-US 19 14674030 14674030 single base substitution G A missense_variant A27T 79G>A BRCA-US 19 14674030 14674030 single base substitution G A missense_variant A39T 115G>A BRCA-US 19 14674030 14674030 single base substitution G A missense_variant A42T 124G>A BRCA-US 19 14674030 14674030 single base substitution G A upstream_gene_variant BTCA-JP 19 14627722 14627722 deletion of <=200bp A - upstream_gene_variant BTCA-JP 19 14628867 14628867 deletion of <=200bp G - intron_variant BTCA-JP 19 14674225 14674225 single base substitution C T exon_variant BTCA-JP 19 14674225 14674225 single base substitution C T intron_variant BTCA-JP 19 14674225 14674225 single base substitution C T upstream_gene_variant BTCA-JP 19 14675833 14675833 single base substitution C T downstream_gene_variant BTCA-JP 19 14675833 14675833 single base substitution C T exon_variant BTCA-JP 19 14675833 14675833 single base substitution C T intron_variant BTCA-JP 19 14676941 14676941 deletion of <=200bp C - downstream_gene_variant BTCA-JP 19 14677580 14677580 single base substitution C T downstream_gene_variant CESC-US 19 14627324 14627324 single base substitution C T upstream_gene_variant CESC-US 19 14627859 14627859 single base substitution C T upstream_gene_variant CESC-US 19 14629110 14629110 single base substitution C T intron_variant CESC-US 19 14640413 14640413 single base substitution C G 5_prime_UTR_variant CESC-US 19 14640413 14640413 single base substitution C G exon_variant CESC-US 19 14640413 14640413 single base substitution C G intron_variant CESC-US 19 14640413 14640413 single base substitution C G upstream_gene_variant CESC-US 19 14676998 14676998 single base substitution C G downstream_gene_variant CESC-US 19 14677664 14677664 single base substitution C T downstream_gene_variant CLLE-ES 19 14628377 14628377 deletion of <=200bp G - intron_variant CLLE-ES 19 14630960 14630960 single base substitution T C intron_variant CLLE-ES 19 14637900 14637900 single base substitution C T intron_variant CLLE-ES 19 14637900 14637900 single base substitution C T upstream_gene_variant CLLE-ES 19 14652314 14652314 single base substitution C T intron_variant CLLE-ES 19 14652314 14652314 single base substitution C T upstream_gene_variant CLLE-ES 19 14680489 14680489 single base substitution A G downstream_gene_variant COAD-US 19 14629150 14629150 single base substitution G A intron_variant COAD-US 19 14674030 14674030 single base substitution G A 5_prime_UTR_variant COAD-US 19 14674030 14674030 single base substitution G A exon_variant COAD-US 19 14674030 14674030 single base substitution G A missense_variant A27T 79G>A COAD-US 19 14674030 14674030 single base substitution G A missense_variant A39T 115G>A COAD-US 19 14674030 14674030 single base substitution G A missense_variant A42T 124G>A COAD-US 19 14674030 14674030 single base substitution G A upstream_gene_variant COAD-US 19 14675032 14675032 single base substitution G A 3_prime_UTR_variant COAD-US 19 14675032 14675032 single base substitution G A 5_prime_UTR_variant COAD-US 19 14675032 14675032 single base substitution G A downstream_gene_variant COAD-US 19 14675032 14675032 single base substitution G A exon_variant COAD-US 19 14675032 14675032 single base substitution G A missense_variant R141H 422G>A COAD-US 19 14675032 14675032 single base substitution G A missense_variant R156H 467G>A COAD-US 19 14675032 14675032 single base substitution G A upstream_gene_variant COAD-US 19 14677622 14677622 single base substitution G A downstream_gene_variant COCA-CN 19 14626812 14626812 single base substitution G A upstream_gene_variant COCA-CN 19 14627318 14627318 single base substitution C T upstream_gene_variant COCA-CN 19 14628899 14628899 single base substitution G C intron_variant COCA-CN 19 14655812 14655812 single base substitution T C intron_variant COCA-CN 19 14655812 14655812 single base substitution T C upstream_gene_variant COCA-CN 19 14673972 14673973 deletion of <=200bp TG - 5_prime_UTR_variant COCA-CN 19 14673972 14673973 deletion of <=200bp TG - exon_variant COCA-CN 19 14673972 14673973 deletion of <=200bp TG - intron_variant COCA-CN 19 14673972 14673973 deletion of <=200bp TG - upstream_gene_variant COCA-CN 19 14674004 14674004 single base substitution T C 5_prime_UTR_variant COCA-CN 19 14674004 14674004 single base substitution T C exon_variant COCA-CN 19 14674004 14674004 single base substitution T C intron_variant COCA-CN 19 14674004 14674004 single base substitution T C missense_variant L30P 89T>C COCA-CN 19 14674004 14674004 single base substitution T C upstream_gene_variant COCA-CN 19 14674235 14674235 single base substitution C T exon_variant COCA-CN 19 14674235 14674235 single base substitution C T intron_variant COCA-CN 19 14674235 14674235 single base substitution C T upstream_gene_variant COCA-CN 19 14674715 14674715 single base substitution G A downstream_gene_variant COCA-CN 19 14674715 14674715 single base substitution G A splice_region_variant COCA-CN 19 14674715 14674715 single base substitution G A upstream_gene_variant COCA-CN 19 14674970 14674970 single base substitution G A downstream_gene_variant COCA-CN 19 14674970 14674970 single base substitution G A exon_variant COCA-CN 19 14674970 14674970 single base substitution G A intron_variant COCA-CN 19 14674970 14674970 single base substitution G A upstream_gene_variant COCA-CN 19 14675749 14675749 insertion of <=200bp - CT downstream_gene_variant COCA-CN 19 14675749 14675749 insertion of <=200bp - CT exon_variant COCA-CN 19 14675749 14675749 insertion of <=200bp - CT intron_variant COCA-CN 19 14675749 14675749 insertion of <=200bp - CT upstream_gene_variant COCA-CN 19 14676405 14676405 single base substitution G A downstream_gene_variant COCA-CN 19 14676405 14676405 single base substitution G A intron_variant COCA-CN 19 14677714 14677714 single base substitution G A downstream_gene_variant EOPC-DE 19 14674225 14674225 single base substitution C T exon_variant EOPC-DE 19 14674225 14674225 single base substitution C T intron_variant EOPC-DE 19 14674225 14674225 single base substitution C T upstream_gene_variant ESAD-UK 19 14623432 14623432 single base substitution C T upstream_gene_variant ESAD-UK 19 14623920 14623920 single base substitution C T upstream_gene_variant ESAD-UK 19 14626187 14626187 single base substitution G C upstream_gene_variant ESAD-UK 19 14634090 14634090 single base substitution G T intron_variant ESAD-UK 19 14634437 14634437 single base substitution T G intron_variant ESAD-UK 19 14635215 14635215 single base substitution G A intron_variant ESAD-UK 19 14637485 14637485 single base substitution G T intron_variant ESAD-UK 19 14637485 14637485 single base substitution G T upstream_gene_variant ESAD-UK 19 14638188 14638188 single base substitution C T intron_variant ESAD-UK 19 14638188 14638188 single base substitution C T upstream_gene_variant ESAD-UK 19 14639023 14639023 single base substitution C T intron_variant ESAD-UK 19 14639023 14639023 single base substitution C T upstream_gene_variant ESAD-UK 19 14639873 14639873 single base substitution A G intron_variant ESAD-UK 19 14639873 14639873 single base substitution A G upstream_gene_variant ESAD-UK 19 14639880 14639880 single base substitution C G intron_variant ESAD-UK 19 14639880 14639880 single base substitution C G upstream_gene_variant ESAD-UK 19 14642141 14642141 single base substitution G A exon_variant ESAD-UK 19 14642141 14642141 single base substitution G A intron_variant ESAD-UK 19 14642581 14642581 single base substitution C G exon_variant ESAD-UK 19 14642581 14642581 single base substitution C G intron_variant ESAD-UK 19 14642714 14642714 single base substitution G A exon_variant ESAD-UK 19 14642714 14642714 single base substitution G A intron_variant ESAD-UK 19 14645360 14645360 single base substitution G T downstream_gene_variant ESAD-UK 19 14645360 14645360 single base substitution G T intron_variant ESAD-UK 19 14649378 14649378 single base substitution C G intron_variant ESAD-UK 19 14651329 14651329 single base substitution G A intron_variant ESAD-UK 19 14651586 14651586 single base substitution C T intron_variant ESAD-UK 19 14651586 14651586 single base substitution C T upstream_gene_variant ESAD-UK 19 14651770 14651770 single base substitution C T intron_variant ESAD-UK 19 14651770 14651770 single base substitution C T upstream_gene_variant ESAD-UK 19 14653272 14653272 single base substitution C T intron_variant ESAD-UK 19 14653272 14653272 single base substitution C T upstream_gene_variant ESAD-UK 19 14655049 14655049 single base substitution T G intron_variant ESAD-UK 19 14655049 14655049 single base substitution T G upstream_gene_variant ESAD-UK 19 14655275 14655275 single base substitution C T intron_variant ESAD-UK 19 14655275 14655275 single base substitution C T upstream_gene_variant ESAD-UK 19 14657324 14657324 single base substitution G A intron_variant ESAD-UK 19 14658115 14658115 single base substitution G A intron_variant ESAD-UK 19 14659261 14659261 single base substitution G T intron_variant ESAD-UK 19 14659666 14659666 single base substitution C T intron_variant ESAD-UK 19 14666340 14666340 single base substitution C T intron_variant ESAD-UK 19 14667121 14667121 single base substitution G C intron_variant ESAD-UK 19 14667225 14667225 single base substitution A C intron_variant ESAD-UK 19 14673949 14673949 single base substitution T G intron_variant ESAD-UK 19 14673949 14673949 single base substitution T G splice_region_variant ESAD-UK 19 14673949 14673949 single base substitution T G upstream_gene_variant ESAD-UK 19 14679713 14679713 single base substitution G A downstream_gene_variant ESAD-UK 19 14680921 14680921 single base substitution C G downstream_gene_variant ESCA-CN 19 14627322 14627322 single base substitution C T upstream_gene_variant ESCA-CN 19 14627395 14627395 single base substitution G C upstream_gene_variant ESCA-CN 19 14629138 14629138 single base substitution C T intron_variant GBM-US 19 14627500 14627500 single base substitution T C upstream_gene_variant KIRC-US 19 14627478 14627478 single base substitution G C upstream_gene_variant KIRC-US 19 14627690 14627690 single base substitution A C upstream_gene_variant KIRC-US 19 14627721 14627721 insertion of <=200bp - A upstream_gene_variant KIRP-US 19 14674655 14674657 deletion of <=200bp CGT - 3_prime_UTR_variant KIRP-US 19 14674655 14674657 deletion of <=200bp CGT - 5_prime_UTR_variant KIRP-US 19 14674655 14674657 deletion of <=200bp CGT - disruptive_inframe_deletion PV69P KIRP-US 19 14674655 14674657 deletion of <=200bp CGT - disruptive_inframe_deletion PV81P KIRP-US 19 14674655 14674657 deletion of <=200bp CGT - disruptive_inframe_deletion PV84P KIRP-US 19 14674655 14674657 deletion of <=200bp CGT - downstream_gene_variant KIRP-US 19 14674655 14674657 deletion of <=200bp CGT - exon_variant KIRP-US 19 14674655 14674657 deletion of <=200bp CGT - upstream_gene_variant LAML-KR 19 14633503 14633503 single base substitution C G intron_variant LAML-KR 19 14639112 14639112 single base substitution C T intron_variant LAML-KR 19 14639112 14639112 single base substitution C T upstream_gene_variant LAML-KR 19 14668607 14668607 single base substitution G T intron_variant LAML-KR 19 14668607 14668607 single base substitution G T upstream_gene_variant LICA-CN 19 14629039 14629039 single base substitution G C intron_variant LICA-CN 19 14674907 14674907 single base substitution G T downstream_gene_variant LICA-CN 19 14674907 14674907 single base substitution G T exon_variant LICA-CN 19 14674907 14674907 single base substitution G T splice_region_variant LICA-CN 19 14674907 14674907 single base substitution G T upstream_gene_variant LICA-FR 19 14627439 14627439 single base substitution C T upstream_gene_variant LICA-FR 19 14646597 14646597 single base substitution T G downstream_gene_variant LICA-FR 19 14646597 14646597 single base substitution T G intron_variant LICA-FR 19 14657506 14657506 single base substitution T C intron_variant LICA-FR 19 14657924 14657925 deletion of <=200bp AA - intron_variant LICA-FR 19 14666774 14666774 single base substitution T A intron_variant LICA-FR 19 14667927 14667927 insertion of <=200bp - TTAT intron_variant LICA-FR 19 14667927 14667927 insertion of <=200bp - TTATTTAT intron_variant LICA-FR 19 14667927 14667927 insertion of <=200bp - TTATTTAT upstream_gene_variant LICA-FR 19 14667927 14667927 insertion of <=200bp - TTAT upstream_gene_variant LICA-FR 19 14673372 14673372 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LICA-FR 19 14673372 14673372 single base substitution G A exon_variant LICA-FR 19 14673372 14673372 single base substitution G A missense_variant V19M 55G>A LICA-FR 19 14673372 14673372 single base substitution G A synonymous_variant L17L 51G>A LICA-FR 19 14673372 14673372 single base substitution G A synonymous_variant L32L 96G>A LICA-FR 19 14673372 14673372 single base substitution G A upstream_gene_variant LICA-FR 19 14674668 14674668 single base substitution G A 3_prime_UTR_variant LICA-FR 19 14674668 14674668 single base substitution G A 5_prime_UTR_variant LICA-FR 19 14674668 14674668 single base substitution G A downstream_gene_variant LICA-FR 19 14674668 14674668 single base substitution G A exon_variant LICA-FR 19 14674668 14674668 single base substitution G A missense_variant A74T 220G>A LICA-FR 19 14674668 14674668 single base substitution G A missense_variant A86T 256G>A LICA-FR 19 14674668 14674668 single base substitution G A missense_variant A89T 265G>A LICA-FR 19 14674668 14674668 single base substitution G A upstream_gene_variant LIHC-US 19 14629102 14629102 single base substitution G A intron_variant LIHC-US 19 14640442 14640442 single base substitution A T 5_prime_UTR_variant LIHC-US 19 14640442 14640442 single base substitution A T exon_variant LIHC-US 19 14640442 14640442 single base substitution A T intron_variant LIHC-US 19 14640442 14640442 single base substitution A T upstream_gene_variant LIHC-US 19 14676612 14676612 single base substitution C A 3_prime_UTR_variant LIHC-US 19 14676612 14676612 single base substitution C A downstream_gene_variant LIHC-US 19 14676612 14676612 single base substitution C A exon_variant LIHC-US 19 14676612 14676612 single base substitution C A missense_variant H128N 382C>A LIHC-US 19 14676612 14676612 single base substitution C A missense_variant H131N 391C>A LIHC-US 19 14676612 14676612 single base substitution C A missense_variant H286N 856C>A LIHC-US 19 14676612 14676612 single base substitution C A missense_variant H301N 901C>A LINC-JP 19 14627605 14627605 single base substitution G A upstream_gene_variant LINC-JP 19 14628879 14628879 single base substitution A C intron_variant LINC-JP 19 14629020 14629020 single base substitution T C intron_variant LINC-JP 19 14640494 14640494 single base substitution C T 5_prime_UTR_variant LINC-JP 19 14640494 14640494 single base substitution C T exon_variant LINC-JP 19 14640494 14640494 single base substitution C T intron_variant LINC-JP 19 14640494 14640494 single base substitution C T upstream_gene_variant LINC-JP 19 14640535 14640535 single base substitution G C exon_variant LINC-JP 19 14640535 14640535 single base substitution G C intron_variant LINC-JP 19 14667243 14667243 single base substitution A C intron_variant LIRI-JP 19 14625846 14625846 single base substitution A T upstream_gene_variant LIRI-JP 19 14625978 14625978 single base substitution C T upstream_gene_variant LIRI-JP 19 14626013 14626013 single base substitution T C upstream_gene_variant LIRI-JP 19 14627793 14627793 single base substitution T C upstream_gene_variant LIRI-JP 19 14632403 14632403 single base substitution C T intron_variant LIRI-JP 19 14632537 14632537 single base substitution G A intron_variant LIRI-JP 19 14632739 14632739 single base substitution G C intron_variant LIRI-JP 19 14633203 14633203 single base substitution A G intron_variant LIRI-JP 19 14640100 14640100 single base substitution C A intron_variant LIRI-JP 19 14640100 14640100 single base substitution C A upstream_gene_variant LIRI-JP 19 14642372 14642372 single base substitution T G exon_variant LIRI-JP 19 14642372 14642372 single base substitution T G intron_variant LIRI-JP 19 14644861 14644861 single base substitution C G downstream_gene_variant LIRI-JP 19 14644861 14644861 single base substitution C G intron_variant LIRI-JP 19 14644861 14644861 single base substitution C G splice_region_variant LIRI-JP 19 14645807 14645807 single base substitution G T downstream_gene_variant LIRI-JP 19 14645807 14645807 single base substitution G T intron_variant LIRI-JP 19 14645845 14645845 single base substitution C T downstream_gene_variant LIRI-JP 19 14645845 14645845 single base substitution C T intron_variant LIRI-JP 19 14655908 14655908 single base substitution C G intron_variant LIRI-JP 19 14655908 14655908 single base substitution C G upstream_gene_variant LIRI-JP 19 14656242 14656242 single base substitution C G intron_variant LIRI-JP 19 14656242 14656242 single base substitution C G upstream_gene_variant LIRI-JP 19 14657350 14657350 single base substitution C T intron_variant LIRI-JP 19 14657427 14657427 single base substitution C T intron_variant LIRI-JP 19 14658048 14658048 single base substitution T C intron_variant LIRI-JP 19 14659603 14659603 single base substitution T A intron_variant LIRI-JP 19 14666154 14666154 single base substitution G T intron_variant LIRI-JP 19 14669662 14669662 single base substitution A G intron_variant LIRI-JP 19 14669662 14669662 single base substitution A G upstream_gene_variant LIRI-JP 19 14671137 14671137 single base substitution C G intron_variant LIRI-JP 19 14671137 14671137 single base substitution C G upstream_gene_variant LIRI-JP 19 14672212 14672212 single base substitution G T intron_variant LIRI-JP 19 14672212 14672212 single base substitution G T upstream_gene_variant LIRI-JP 19 14678345 14678345 single base substitution G A downstream_gene_variant LUSC-KR 19 14629412 14629412 single base substitution C T intron_variant LUSC-KR 19 14637746 14637746 single base substitution T C intron_variant LUSC-KR 19 14637746 14637746 single base substitution T C upstream_gene_variant LUSC-KR 19 14637958 14637958 single base substitution C T intron_variant LUSC-KR 19 14637958 14637958 single base substitution C T upstream_gene_variant LUSC-KR 19 14639112 14639112 single base substitution C T intron_variant LUSC-KR 19 14639112 14639112 single base substitution C T upstream_gene_variant LUSC-KR 19 14641972 14641972 single base substitution G T exon_variant LUSC-KR 19 14641972 14641972 single base substitution G T intron_variant LUSC-KR 19 14646946 14646946 single base substitution G C downstream_gene_variant LUSC-KR 19 14646946 14646946 single base substitution G C intron_variant LUSC-KR 19 14653290 14653290 single base substitution C T intron_variant LUSC-KR 19 14653290 14653290 single base substitution C T upstream_gene_variant LUSC-KR 19 14664735 14664735 single base substitution G C intron_variant LUSC-KR 19 14666693 14666693 single base substitution C T intron_variant LUSC-KR 19 14668607 14668607 single base substitution G T intron_variant LUSC-KR 19 14668607 14668607 single base substitution G T upstream_gene_variant LUSC-KR 19 14671043 14671043 single base substitution T A intron_variant LUSC-KR 19 14671043 14671043 single base substitution T A upstream_gene_variant LUSC-KR 19 14674752 14674752 single base substitution C T downstream_gene_variant LUSC-KR 19 14674752 14674752 single base substitution C T intron_variant LUSC-KR 19 14674752 14674752 single base substitution C T upstream_gene_variant LUSC-KR 19 14674998 14674998 single base substitution G A 3_prime_UTR_variant LUSC-KR 19 14674998 14674998 single base substitution G A 5_prime_UTR_variant LUSC-KR 19 14674998 14674998 single base substitution G A downstream_gene_variant LUSC-KR 19 14674998 14674998 single base substitution G A exon_variant LUSC-KR 19 14674998 14674998 single base substitution G A missense_variant A130T 388G>A LUSC-KR 19 14674998 14674998 single base substitution G A missense_variant A145T 433G>A LUSC-KR 19 14674998 14674998 single base substitution G A upstream_gene_variant LUSC-KR 19 14675584 14675584 single base substitution C T downstream_gene_variant LUSC-KR 19 14675584 14675584 single base substitution C T exon_variant LUSC-KR 19 14675584 14675584 single base substitution C T intron_variant LUSC-KR 19 14675584 14675584 single base substitution C T upstream_gene_variant LUSC-US 19 14627579 14627579 single base substitution A G upstream_gene_variant LUSC-US 19 14627629 14627629 single base substitution G A upstream_gene_variant LUSC-US 19 14627679 14627679 single base substitution A C upstream_gene_variant LUSC-US 19 14629017 14629017 single base substitution C A intron_variant LUSC-US 19 14629122 14629122 single base substitution C A intron_variant LUSC-US 19 14676967 14676967 single base substitution A G downstream_gene_variant MALY-DE 19 14632269 14632271 deletion of <=200bp AAT - intron_variant MALY-DE 19 14659394 14659394 insertion of <=200bp - T intron_variant MALY-DE 19 14667761 14667761 single base substitution C T intron_variant MALY-DE 19 14671757 14671757 single base substitution A T intron_variant MALY-DE 19 14671757 14671757 single base substitution A T upstream_gene_variant MALY-DE 19 14674041 14674041 single base substitution G A 5_prime_UTR_variant MALY-DE 19 14674041 14674041 single base substitution G A exon_variant MALY-DE 19 14674041 14674041 single base substitution G A synonymous_variant A30A 90G>A MALY-DE 19 14674041 14674041 single base substitution G A synonymous_variant A42A 126G>A MALY-DE 19 14674041 14674041 single base substitution G A synonymous_variant A45A 135G>A MALY-DE 19 14674041 14674041 single base substitution G A upstream_gene_variant MALY-DE 19 14676566 14676566 single base substitution C A 3_prime_UTR_variant MALY-DE 19 14676566 14676566 single base substitution C A downstream_gene_variant MALY-DE 19 14676566 14676566 single base substitution C A exon_variant MALY-DE 19 14676566 14676566 single base substitution C A missense_variant F112L 336C>A MALY-DE 19 14676566 14676566 single base substitution C A missense_variant F115L 345C>A MALY-DE 19 14676566 14676566 single base substitution C A missense_variant F270L 810C>A MALY-DE 19 14676566 14676566 single base substitution C A missense_variant F285L 855C>A MELA-AU 19 14623250 14623250 single base substitution G A upstream_gene_variant MELA-AU 19 14623491 14623491 single base substitution G A upstream_gene_variant MELA-AU 19 14624316 14624316 single base substitution G A upstream_gene_variant MELA-AU 19 14625270 14625270 single base substitution G A upstream_gene_variant MELA-AU 19 14625879 14625879 single base substitution A T upstream_gene_variant MELA-AU 19 14627261 14627261 single base substitution C T upstream_gene_variant MELA-AU 19 14627578 14627578 single base substitution G A upstream_gene_variant MELA-AU 19 14627704 14627704 single base substitution C T upstream_gene_variant MELA-AU 19 14628547 14628547 single base substitution C T intron_variant MELA-AU 19 14628665 14628665 single base substitution C T intron_variant MELA-AU 19 14628717 14628718 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 14628882 14628882 single base substitution G A intron_variant MELA-AU 19 14629298 14629298 single base substitution C T intron_variant MELA-AU 19 14629351 14629351 single base substitution G A intron_variant MELA-AU 19 14629395 14629395 single base substitution C T intron_variant MELA-AU 19 14629448 14629448 single base substitution G A intron_variant MELA-AU 19 14629740 14629740 single base substitution C T intron_variant MELA-AU 19 14629903 14629903 single base substitution G A intron_variant MELA-AU 19 14629908 14629908 single base substitution G A intron_variant MELA-AU 19 14630761 14630761 single base substitution G A intron_variant MELA-AU 19 14631022 14631022 single base substitution G A intron_variant MELA-AU 19 14631738 14631738 single base substitution G A intron_variant MELA-AU 19 14632497 14632497 single base substitution G A intron_variant MELA-AU 19 14632625 14632625 single base substitution G A intron_variant MELA-AU 19 14632775 14632775 single base substitution G A intron_variant MELA-AU 19 14634280 14634280 single base substitution C T intron_variant MELA-AU 19 14634536 14634536 single base substitution C T intron_variant MELA-AU 19 14634560 14634560 single base substitution G A intron_variant MELA-AU 19 14634783 14634783 single base substitution G A intron_variant MELA-AU 19 14634996 14634996 single base substitution A C intron_variant MELA-AU 19 14635350 14635350 single base substitution C T intron_variant MELA-AU 19 14635456 14635456 single base substitution G A intron_variant MELA-AU 19 14635456 14635456 single base substitution G A upstream_gene_variant MELA-AU 19 14635628 14635628 single base substitution A C intron_variant MELA-AU 19 14635628 14635628 single base substitution A C upstream_gene_variant MELA-AU 19 14635832 14635833 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 19 14635832 14635833 multiple base substitution (>=2bp and <=200bp) GG CA upstream_gene_variant MELA-AU 19 14635848 14635848 single base substitution C T intron_variant MELA-AU 19 14635848 14635848 single base substitution C T upstream_gene_variant MELA-AU 19 14636195 14636195 single base substitution A C intron_variant MELA-AU 19 14636195 14636195 single base substitution A C upstream_gene_variant MELA-AU 19 14636663 14636663 single base substitution G A intron_variant MELA-AU 19 14636663 14636663 single base substitution G A upstream_gene_variant MELA-AU 19 14636668 14636668 single base substitution G C intron_variant MELA-AU 19 14636668 14636668 single base substitution G C upstream_gene_variant MELA-AU 19 14637020 14637020 single base substitution A T intron_variant MELA-AU 19 14637020 14637020 single base substitution A T upstream_gene_variant MELA-AU 19 14637149 14637149 single base substitution G A intron_variant MELA-AU 19 14637149 14637149 single base substitution G A upstream_gene_variant MELA-AU 19 14637206 14637206 single base substitution G A intron_variant MELA-AU 19 14637206 14637206 single base substitution G A upstream_gene_variant MELA-AU 19 14637363 14637363 single base substitution G A intron_variant MELA-AU 19 14637363 14637363 single base substitution G A upstream_gene_variant MELA-AU 19 14637574 14637574 single base substitution G A intron_variant MELA-AU 19 14637574 14637574 single base substitution G A upstream_gene_variant MELA-AU 19 14637929 14637929 single base substitution G A intron_variant MELA-AU 19 14637929 14637929 single base substitution G A upstream_gene_variant MELA-AU 19 14638499 14638500 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 14638499 14638500 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 14638544 14638544 single base substitution G A intron_variant MELA-AU 19 14638544 14638544 single base substitution G A upstream_gene_variant MELA-AU 19 14639134 14639134 single base substitution C T intron_variant MELA-AU 19 14639134 14639134 single base substitution C T upstream_gene_variant MELA-AU 19 14639312 14639312 single base substitution G A intron_variant MELA-AU 19 14639312 14639312 single base substitution G A upstream_gene_variant MELA-AU 19 14639369 14639369 single base substitution G A intron_variant MELA-AU 19 14639369 14639369 single base substitution G A upstream_gene_variant MELA-AU 19 14640011 14640011 single base substitution G A intron_variant MELA-AU 19 14640011 14640011 single base substitution G A upstream_gene_variant MELA-AU 19 14640157 14640157 single base substitution G A intron_variant MELA-AU 19 14640157 14640157 single base substitution G A upstream_gene_variant MELA-AU 19 14640162 14640163 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 14640162 14640163 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 14640239 14640239 single base substitution C T intron_variant MELA-AU 19 14640239 14640239 single base substitution C T upstream_gene_variant MELA-AU 19 14640249 14640249 single base substitution C T intron_variant MELA-AU 19 14640249 14640249 single base substitution C T upstream_gene_variant MELA-AU 19 14640390 14640390 single base substitution G A 5_prime_UTR_variant MELA-AU 19 14640390 14640390 single base substitution G A intron_variant MELA-AU 19 14640390 14640390 single base substitution G A upstream_gene_variant MELA-AU 19 14641510 14641510 single base substitution C T exon_variant MELA-AU 19 14641510 14641510 single base substitution C T intron_variant MELA-AU 19 14641539 14641539 single base substitution G A exon_variant MELA-AU 19 14641539 14641539 single base substitution G A intron_variant MELA-AU 19 14641648 14641648 single base substitution T C exon_variant MELA-AU 19 14641648 14641648 single base substitution T C intron_variant MELA-AU 19 14641876 14641876 single base substitution C T exon_variant MELA-AU 19 14641876 14641876 single base substitution C T intron_variant MELA-AU 19 14643948 14643948 single base substitution T G downstream_gene_variant MELA-AU 19 14643948 14643948 single base substitution T G intron_variant MELA-AU 19 14644503 14644503 single base substitution C T downstream_gene_variant MELA-AU 19 14644503 14644503 single base substitution C T intron_variant MELA-AU 19 14644530 14644530 single base substitution G A downstream_gene_variant MELA-AU 19 14644530 14644530 single base substitution G A intron_variant MELA-AU 19 14645656 14645656 single base substitution G A downstream_gene_variant MELA-AU 19 14645656 14645656 single base substitution G A intron_variant MELA-AU 19 14645866 14645866 single base substitution C T downstream_gene_variant MELA-AU 19 14645866 14645866 single base substitution C T intron_variant MELA-AU 19 14646018 14646018 single base substitution C T downstream_gene_variant MELA-AU 19 14646018 14646018 single base substitution C T intron_variant MELA-AU 19 14649234 14649234 single base substitution C T intron_variant MELA-AU 19 14649377 14649377 single base substitution C T intron_variant MELA-AU 19 14649405 14649405 single base substitution C T intron_variant MELA-AU 19 14649528 14649528 single base substitution A T intron_variant MELA-AU 19 14650510 14650510 single base substitution C T intron_variant MELA-AU 19 14650595 14650595 single base substitution C T intron_variant MELA-AU 19 14650623 14650623 single base substitution C T intron_variant MELA-AU 19 14651503 14651503 single base substitution C T intron_variant MELA-AU 19 14652828 14652828 single base substitution C G intron_variant MELA-AU 19 14652828 14652828 single base substitution C G upstream_gene_variant MELA-AU 19 14654998 14654998 single base substitution G T intron_variant MELA-AU 19 14654998 14654998 single base substitution G T upstream_gene_variant MELA-AU 19 14655110 14655110 single base substitution C T intron_variant MELA-AU 19 14655110 14655110 single base substitution C T upstream_gene_variant MELA-AU 19 14655122 14655122 single base substitution C T intron_variant MELA-AU 19 14655122 14655122 single base substitution C T upstream_gene_variant MELA-AU 19 14655702 14655702 single base substitution C A intron_variant MELA-AU 19 14655702 14655702 single base substitution C A upstream_gene_variant MELA-AU 19 14655916 14655916 single base substitution C T intron_variant MELA-AU 19 14655916 14655916 single base substitution C T upstream_gene_variant MELA-AU 19 14656160 14656160 single base substitution G A intron_variant MELA-AU 19 14656160 14656160 single base substitution G A upstream_gene_variant MELA-AU 19 14656677 14656677 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 19 14656677 14656677 single base substitution C T intron_variant MELA-AU 19 14658068 14658068 single base substitution C T intron_variant MELA-AU 19 14659839 14659839 single base substitution C T intron_variant MELA-AU 19 14660396 14660396 single base substitution C T intron_variant MELA-AU 19 14660891 14660892 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 19 14661289 14661289 single base substitution C T intron_variant MELA-AU 19 14661370 14661370 single base substitution C T intron_variant MELA-AU 19 14661787 14661787 single base substitution C A intron_variant MELA-AU 19 14662246 14662246 single base substitution C T intron_variant MELA-AU 19 14662347 14662348 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 14663470 14663470 single base substitution C T intron_variant MELA-AU 19 14663618 14663618 single base substitution G A intron_variant MELA-AU 19 14664538 14664538 single base substitution G T intron_variant MELA-AU 19 14665014 14665014 single base substitution C T intron_variant MELA-AU 19 14665094 14665094 single base substitution C T intron_variant MELA-AU 19 14665251 14665251 single base substitution C T intron_variant MELA-AU 19 14665579 14665579 single base substitution T A intron_variant MELA-AU 19 14665981 14665981 single base substitution C T intron_variant MELA-AU 19 14666251 14666251 single base substitution T C intron_variant MELA-AU 19 14666565 14666565 single base substitution T C intron_variant MELA-AU 19 14666732 14666732 single base substitution C T intron_variant MELA-AU 19 14666750 14666750 single base substitution C T intron_variant MELA-AU 19 14667927 14667927 insertion of <=200bp - TTATTTATTTAT intron_variant MELA-AU 19 14667927 14667927 insertion of <=200bp - TTATTTATTTAT upstream_gene_variant MELA-AU 19 14667973 14667973 single base substitution A G intron_variant MELA-AU 19 14667973 14667973 single base substitution A G upstream_gene_variant MELA-AU 19 14668305 14668305 single base substitution C T intron_variant MELA-AU 19 14668305 14668305 single base substitution C T upstream_gene_variant MELA-AU 19 14668677 14668677 single base substitution C T intron_variant MELA-AU 19 14668677 14668677 single base substitution C T upstream_gene_variant MELA-AU 19 14668744 14668744 single base substitution T A intron_variant MELA-AU 19 14668744 14668744 single base substitution T A upstream_gene_variant MELA-AU 19 14669573 14669573 single base substitution C T intron_variant MELA-AU 19 14669573 14669573 single base substitution C T upstream_gene_variant MELA-AU 19 14669583 14669583 single base substitution C T intron_variant MELA-AU 19 14669583 14669583 single base substitution C T upstream_gene_variant MELA-AU 19 14670513 14670513 single base substitution C T intron_variant MELA-AU 19 14670513 14670513 single base substitution C T upstream_gene_variant MELA-AU 19 14672301 14672301 single base substitution G A intron_variant MELA-AU 19 14672301 14672301 single base substitution G A upstream_gene_variant MELA-AU 19 14672475 14672475 single base substitution G A intron_variant MELA-AU 19 14672475 14672475 single base substitution G A upstream_gene_variant MELA-AU 19 14672533 14672533 single base substitution C T intron_variant MELA-AU 19 14672533 14672533 single base substitution C T upstream_gene_variant MELA-AU 19 14673505 14673505 single base substitution G A intron_variant MELA-AU 19 14673505 14673505 single base substitution G A upstream_gene_variant MELA-AU 19 14673588 14673589 multiple base substitution (>=2bp and <=200bp) CC TG intron_variant MELA-AU 19 14673588 14673589 multiple base substitution (>=2bp and <=200bp) CC TG upstream_gene_variant MELA-AU 19 14673704 14673704 single base substitution C T intron_variant MELA-AU 19 14673704 14673704 single base substitution C T upstream_gene_variant MELA-AU 19 14674800 14674800 single base substitution C T 3_prime_UTR_variant MELA-AU 19 14674800 14674800 single base substitution C T 5_prime_UTR_variant MELA-AU 19 14674800 14674800 single base substitution C T downstream_gene_variant MELA-AU 19 14674800 14674800 single base substitution C T exon_variant MELA-AU 19 14674800 14674800 single base substitution C T synonymous_variant L104L 310C>T MELA-AU 19 14674800 14674800 single base substitution C T synonymous_variant L107L 319C>T MELA-AU 19 14674800 14674800 single base substitution C T synonymous_variant L92L 274C>T MELA-AU 19 14674800 14674800 single base substitution C T upstream_gene_variant MELA-AU 19 14675617 14675617 single base substitution G A 3_prime_UTR_variant MELA-AU 19 14675617 14675617 single base substitution G A downstream_gene_variant MELA-AU 19 14675617 14675617 single base substitution G A exon_variant MELA-AU 19 14675617 14675617 single base substitution G A missense_variant A27T 79G>A MELA-AU 19 14675617 14675617 single base substitution G A missense_variant G15D 44G>A MELA-AU 19 14675617 14675617 single base substitution G A missense_variant G170D 509G>A MELA-AU 19 14675617 14675617 single base substitution G A missense_variant G185D 554G>A MELA-AU 19 14675617 14675617 single base substitution G A upstream_gene_variant MELA-AU 19 14675840 14675840 single base substitution G A downstream_gene_variant MELA-AU 19 14675840 14675840 single base substitution G A exon_variant MELA-AU 19 14675840 14675840 single base substitution G A intron_variant MELA-AU 19 14677690 14677690 single base substitution C T downstream_gene_variant MELA-AU 19 14677800 14677801 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 14678043 14678044 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 14678505 14678505 single base substitution C T downstream_gene_variant MELA-AU 19 14679164 14679164 single base substitution C T downstream_gene_variant MELA-AU 19 14679506 14679507 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 14679952 14679952 single base substitution G A downstream_gene_variant MELA-AU 19 14680472 14680472 single base substitution G A downstream_gene_variant MELA-AU 19 14680517 14680517 single base substitution T C downstream_gene_variant MELA-AU 19 14680632 14680632 single base substitution C T downstream_gene_variant MELA-AU 19 14680972 14680972 single base substitution G A downstream_gene_variant MELA-AU 19 14681418 14681418 single base substitution G A downstream_gene_variant ORCA-IN 19 14628259 14628259 deletion of <=200bp C - intron_variant ORCA-IN 19 14629774 14629774 single base substitution G A intron_variant ORCA-IN 19 14633610 14633610 single base substitution C A intron_variant ORCA-IN 19 14652019 14652019 single base substitution G A intron_variant ORCA-IN 19 14652019 14652019 single base substitution G A upstream_gene_variant ORCA-IN 19 14677644 14677644 single base substitution C A downstream_gene_variant ORCA-IN 19 14677728 14677728 single base substitution G T downstream_gene_variant OV-AU 19 14625601 14625601 single base substitution T G upstream_gene_variant OV-AU 19 14626883 14626883 single base substitution G A upstream_gene_variant OV-AU 19 14633505 14633505 single base substitution C G intron_variant OV-AU 19 14641487 14641487 single base substitution G A exon_variant OV-AU 19 14641487 14641487 single base substitution G A intron_variant OV-AU 19 14645621 14645621 single base substitution T G downstream_gene_variant OV-AU 19 14645621 14645621 single base substitution T G intron_variant OV-AU 19 14646290 14646290 single base substitution G A downstream_gene_variant OV-AU 19 14646290 14646290 single base substitution G A intron_variant OV-AU 19 14649930 14649930 single base substitution C T intron_variant OV-AU 19 14653876 14653876 single base substitution G A intron_variant OV-AU 19 14653876 14653876 single base substitution G A upstream_gene_variant OV-AU 19 14654851 14654851 single base substitution G A intron_variant OV-AU 19 14654851 14654851 single base substitution G A upstream_gene_variant OV-AU 19 14654973 14654973 single base substitution G T intron_variant OV-AU 19 14654973 14654973 single base substitution G T upstream_gene_variant OV-AU 19 14656968 14656968 single base substitution A G intron_variant OV-AU 19 14658636 14658636 single base substitution C A intron_variant OV-AU 19 14662368 14662368 single base substitution T C intron_variant OV-AU 19 14665475 14665475 single base substitution G T intron_variant OV-AU 19 14670561 14670561 single base substitution T C intron_variant OV-AU 19 14670561 14670561 single base substitution T C upstream_gene_variant PACA-AU 19 14624897 14624897 single base substitution G A upstream_gene_variant PACA-AU 19 14627771 14627771 single base substitution G A upstream_gene_variant PACA-AU 19 14629197 14629197 single base substitution G C intron_variant PACA-AU 19 14629928 14629928 single base substitution C G intron_variant PACA-AU 19 14632114 14632114 single base substitution T C intron_variant PACA-AU 19 14638351 14638351 single base substitution C A intron_variant PACA-AU 19 14638351 14638351 single base substitution C A upstream_gene_variant PACA-AU 19 14638894 14638894 single base substitution C A intron_variant PACA-AU 19 14638894 14638894 single base substitution C A upstream_gene_variant PACA-AU 19 14642291 14642291 single base substitution A G exon_variant PACA-AU 19 14642291 14642291 single base substitution A G intron_variant PACA-AU 19 14642415 14642415 single base substitution G C exon_variant PACA-AU 19 14642415 14642415 single base substitution G C intron_variant PACA-AU 19 14649703 14649703 single base substitution C T intron_variant PACA-AU 19 14654110 14654111 deletion of <=200bp GG - intron_variant PACA-AU 19 14654110 14654111 deletion of <=200bp GG - upstream_gene_variant PACA-AU 19 14669294 14669294 single base substitution C T intron_variant PACA-AU 19 14669294 14669294 single base substitution C T upstream_gene_variant PACA-AU 19 14673010 14673010 single base substitution C T intron_variant PACA-AU 19 14673010 14673010 single base substitution C T upstream_gene_variant PACA-AU 19 14675894 14675894 single base substitution A G 3_prime_UTR_variant PACA-AU 19 14675894 14675894 single base substitution A G downstream_gene_variant PACA-AU 19 14675894 14675894 single base substitution A G exon_variant PACA-AU 19 14675894 14675894 single base substitution A G missense_variant N208S 623A>G PACA-AU 19 14675894 14675894 single base substitution A G missense_variant N223S 668A>G PACA-AU 19 14675894 14675894 single base substitution A G missense_variant N50S 149A>G PACA-AU 19 14675894 14675894 single base substitution A G missense_variant N53S 158A>G PACA-CA 19 14627816 14627816 insertion of <=200bp - C upstream_gene_variant PACA-CA 19 14632221 14632221 single base substitution A G intron_variant PACA-CA 19 14636308 14636308 single base substitution C A intron_variant PACA-CA 19 14636308 14636308 single base substitution C A upstream_gene_variant PACA-CA 19 14637059 14637059 single base substitution T A intron_variant PACA-CA 19 14637059 14637059 single base substitution T A upstream_gene_variant PACA-CA 19 14638872 14638872 single base substitution T C intron_variant PACA-CA 19 14638872 14638872 single base substitution T C upstream_gene_variant PACA-CA 19 14651242 14651242 single base substitution T C intron_variant PACA-CA 19 14668126 14668126 single base substitution T C intron_variant PACA-CA 19 14668126 14668126 single base substitution T C upstream_gene_variant PACA-CA 19 14668291 14668291 single base substitution T C intron_variant PACA-CA 19 14668291 14668291 single base substitution T C upstream_gene_variant PACA-CA 19 14678623 14678623 single base substitution C T downstream_gene_variant PACA-CA 19 14681494 14681494 single base substitution T G downstream_gene_variant PAEN-AU 19 14667951 14667951 single base substitution T G intron_variant PAEN-AU 19 14667951 14667951 single base substitution T G upstream_gene_variant PAEN-IT 19 14629685 14629685 single base substitution G A intron_variant PAEN-IT 19 14658990 14658990 single base substitution C A intron_variant PAEN-IT 19 14674826 14674826 single base substitution C A 3_prime_UTR_variant PAEN-IT 19 14674826 14674826 single base substitution C A 5_prime_UTR_variant PAEN-IT 19 14674826 14674826 single base substitution C A downstream_gene_variant PAEN-IT 19 14674826 14674826 single base substitution C A exon_variant PAEN-IT 19 14674826 14674826 single base substitution C A missense_variant F100L 300C>A PAEN-IT 19 14674826 14674826 single base substitution C A missense_variant F112L 336C>A PAEN-IT 19 14674826 14674826 single base substitution C A missense_variant F115L 345C>A PAEN-IT 19 14674826 14674826 single base substitution C A upstream_gene_variant PBCA-DE 19 14632725 14632725 single base substitution C T intron_variant PBCA-DE 19 14634622 14634622 single base substitution G T intron_variant PBCA-DE 19 14641848 14641848 insertion of <=200bp - T exon_variant PBCA-DE 19 14641848 14641848 insertion of <=200bp - T intron_variant PBCA-DE 19 14647036 14647036 single base substitution A T downstream_gene_variant PBCA-DE 19 14647036 14647036 single base substitution A T intron_variant PBCA-DE 19 14650473 14650473 single base substitution C T intron_variant PBCA-DE 19 14666188 14666188 insertion of <=200bp - G intron_variant PBCA-DE 19 14676777 14676777 single base substitution G T 3_prime_UTR_variant PBCA-DE 19 14676777 14676777 single base substitution G T downstream_gene_variant PBCA-DE 19 14676777 14676777 single base substitution G T exon_variant PBCA-DE 19 14681181 14681181 insertion of <=200bp - TT downstream_gene_variant PRAD-CA 19 14626294 14626294 single base substitution A C upstream_gene_variant PRAD-CA 19 14674812 14674812 single base substitution G A 3_prime_UTR_variant PRAD-CA 19 14674812 14674812 single base substitution G A 5_prime_UTR_variant PRAD-CA 19 14674812 14674812 single base substitution G A downstream_gene_variant PRAD-CA 19 14674812 14674812 single base substitution G A exon_variant PRAD-CA 19 14674812 14674812 single base substitution G A missense_variant A108T 322G>A PRAD-CA 19 14674812 14674812 single base substitution G A missense_variant A111T 331G>A PRAD-CA 19 14674812 14674812 single base substitution G A missense_variant A96T 286G>A PRAD-CA 19 14674812 14674812 single base substitution G A upstream_gene_variant PRAD-UK 19 14650784 14650784 single base substitution C T intron_variant PRAD-UK 19 14675624 14675624 insertion of <=200bp - TTAG 3_prime_UTR_variant PRAD-UK 19 14675624 14675624 insertion of <=200bp - TTAG downstream_gene_variant PRAD-UK 19 14675624 14675624 insertion of <=200bp - TTAG exon_variant PRAD-UK 19 14675624 14675624 insertion of <=200bp - TTAG frameshift_variant A172A*? PRAD-UK 19 14675624 14675624 insertion of <=200bp - TTAG frameshift_variant A17A*? PRAD-UK 19 14675624 14675624 insertion of <=200bp - TTAG frameshift_variant A187A*? PRAD-UK 19 14675624 14675624 insertion of <=200bp - TTAG frameshift_variant P29LS? PRAD-UK 19 14675624 14675624 insertion of <=200bp - TTAG upstream_gene_variant PRAD-UK 19 14677275 14677318 deletion of <=200bp CCCCTAGGTGGCTTCAGCCACCTGCCCTGTCCCCATCAAACAGG - downstream_gene_variant PRAD-US 19 14677003 14677003 single base substitution G A downstream_gene_variant READ-US 19 14674878 14674878 single base substitution G T 3_prime_UTR_variant READ-US 19 14674878 14674878 single base substitution G T 5_prime_UTR_variant READ-US 19 14674878 14674878 single base substitution G T downstream_gene_variant READ-US 19 14674878 14674878 single base substitution G T exon_variant READ-US 19 14674878 14674878 single base substitution G T missense_variant D118Y 352G>T READ-US 19 14674878 14674878 single base substitution G T missense_variant D130Y 388G>T READ-US 19 14674878 14674878 single base substitution G T missense_variant D133Y 397G>T READ-US 19 14674878 14674878 single base substitution G T upstream_gene_variant READ-US 19 14675621 14675621 single base substitution C T 3_prime_UTR_variant READ-US 19 14675621 14675621 single base substitution C T downstream_gene_variant READ-US 19 14675621 14675621 single base substitution C T exon_variant READ-US 19 14675621 14675621 single base substitution C T missense_variant S28L 83C>T READ-US 19 14675621 14675621 single base substitution C T synonymous_variant F16F 48C>T READ-US 19 14675621 14675621 single base substitution C T synonymous_variant F171F 513C>T READ-US 19 14675621 14675621 single base substitution C T synonymous_variant F186F 558C>T READ-US 19 14675621 14675621 single base substitution C T upstream_gene_variant RECA-EU 19 14647400 14647400 single base substitution C T downstream_gene_variant RECA-EU 19 14647400 14647400 single base substitution C T intron_variant RECA-EU 19 14655362 14655362 single base substitution T C intron_variant RECA-EU 19 14655362 14655362 single base substitution T C upstream_gene_variant RECA-EU 19 14665736 14665736 single base substitution G A intron_variant SKCA-BR 19 14628094 14628094 single base substitution A C exon_variant SKCA-BR 19 14628165 14628165 single base substitution G A exon_variant SKCA-BR 19 14629279 14629279 single base substitution G A intron_variant SKCA-BR 19 14629379 14629379 single base substitution C T intron_variant SKCA-BR 19 14629419 14629419 single base substitution A C intron_variant SKCA-BR 19 14629422 14629422 single base substitution T C intron_variant SKCA-BR 19 14629451 14629451 single base substitution G C intron_variant SKCA-BR 19 14633495 14633497 deletion of <=200bp GAC - intron_variant SKCA-BR 19 14633499 14633499 insertion of <=200bp - CACAG intron_variant SKCA-BR 19 14633503 14633503 single base substitution C G intron_variant SKCA-BR 19 14643324 14643325 deletion of <=200bp CA - exon_variant SKCA-BR 19 14643324 14643325 deletion of <=200bp CA - intron_variant SKCA-BR 19 14643792 14643792 single base substitution C T downstream_gene_variant SKCA-BR 19 14643792 14643792 single base substitution C T intron_variant SKCA-BR 19 14644814 14644814 single base substitution T A 5_prime_UTR_variant SKCA-BR 19 14644814 14644814 single base substitution T A downstream_gene_variant SKCA-BR 19 14644814 14644814 single base substitution T A intron_variant SKCA-BR 19 14645278 14645278 single base substitution C T downstream_gene_variant SKCA-BR 19 14645278 14645278 single base substitution C T intron_variant SKCA-BR 19 14646591 14646591 single base substitution G A downstream_gene_variant SKCA-BR 19 14646591 14646591 single base substitution G A intron_variant SKCA-BR 19 14649181 14649181 single base substitution G A intron_variant SKCA-BR 19 14650305 14650305 single base substitution C T intron_variant SKCA-BR 19 14654115 14654115 single base substitution T G intron_variant SKCA-BR 19 14654115 14654115 single base substitution T G upstream_gene_variant SKCA-BR 19 14654248 14654248 single base substitution T A intron_variant SKCA-BR 19 14654248 14654248 single base substitution T A upstream_gene_variant SKCA-BR 19 14655333 14655333 single base substitution T G intron_variant SKCA-BR 19 14655333 14655333 single base substitution T G upstream_gene_variant SKCA-BR 19 14658686 14658686 single base substitution T C intron_variant SKCA-BR 19 14658790 14658790 single base substitution T C intron_variant SKCA-BR 19 14660785 14660785 single base substitution A C intron_variant SKCA-BR 19 14662977 14662977 single base substitution C T intron_variant SKCA-BR 19 14665515 14665515 single base substitution C T intron_variant SKCA-BR 19 14665566 14665566 single base substitution T A intron_variant SKCA-BR 19 14666249 14666250 deletion of <=200bp TC - intron_variant SKCA-BR 19 14666845 14666845 single base substitution A C intron_variant SKCA-BR 19 14667225 14667225 insertion of <=200bp - AAAAAACAAAAAC intron_variant SKCA-BR 19 14667765 14667765 insertion of <=200bp - CT intron_variant SKCA-BR 19 14667926 14667926 insertion of <=200bp - CTTATTTATTTAT intron_variant SKCA-BR 19 14667926 14667926 insertion of <=200bp - CTTATTTATTTAT upstream_gene_variant SKCA-BR 19 14669044 14669044 single base substitution C T intron_variant SKCA-BR 19 14669044 14669044 single base substitution C T upstream_gene_variant SKCA-BR 19 14669060 14669060 single base substitution T C intron_variant SKCA-BR 19 14669060 14669060 single base substitution T C upstream_gene_variant SKCA-BR 19 14670147 14670147 single base substitution C T intron_variant SKCA-BR 19 14670147 14670147 single base substitution C T upstream_gene_variant SKCA-BR 19 14670766 14670766 single base substitution C T intron_variant SKCA-BR 19 14670766 14670766 single base substitution C T upstream_gene_variant SKCA-BR 19 14676513 14676513 single base substitution T C downstream_gene_variant SKCA-BR 19 14676513 14676513 single base substitution T C exon_variant SKCA-BR 19 14676513 14676513 single base substitution T C intron_variant SKCA-BR 19 14676530 14676530 single base substitution T C downstream_gene_variant SKCA-BR 19 14676530 14676530 single base substitution T C exon_variant SKCA-BR 19 14676530 14676530 single base substitution T C intron_variant SKCA-BR 19 14676534 14676534 single base substitution T C downstream_gene_variant SKCA-BR 19 14676534 14676534 single base substitution T C exon_variant SKCA-BR 19 14676534 14676534 single base substitution T C intron_variant SKCM-US 19 14627707 14627707 single base substitution C T upstream_gene_variant SKCM-US 19 14674675 14674675 single base substitution T A 3_prime_UTR_variant SKCM-US 19 14674675 14674675 single base substitution T A 5_prime_UTR_variant SKCM-US 19 14674675 14674675 single base substitution T A downstream_gene_variant SKCM-US 19 14674675 14674675 single base substitution T A exon_variant SKCM-US 19 14674675 14674675 single base substitution T A missense_variant L76Q 227T>A SKCM-US 19 14674675 14674675 single base substitution T A missense_variant L88Q 263T>A SKCM-US 19 14674675 14674675 single base substitution T A missense_variant L91Q 272T>A SKCM-US 19 14674675 14674675 single base substitution T A upstream_gene_variant SKCM-US 19 14674799 14674799 single base substitution C T 3_prime_UTR_variant SKCM-US 19 14674799 14674799 single base substitution C T 5_prime_UTR_variant SKCM-US 19 14674799 14674799 single base substitution C T downstream_gene_variant SKCM-US 19 14674799 14674799 single base substitution C T exon_variant SKCM-US 19 14674799 14674799 single base substitution C T synonymous_variant F103F 309C>T SKCM-US 19 14674799 14674799 single base substitution C T synonymous_variant F106F 318C>T SKCM-US 19 14674799 14674799 single base substitution C T synonymous_variant F91F 273C>T SKCM-US 19 14674799 14674799 single base substitution C T upstream_gene_variant SKCM-US 19 14675058 14675058 single base substitution C T 3_prime_UTR_variant SKCM-US 19 14675058 14675058 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 19 14675058 14675058 single base substitution C T downstream_gene_variant SKCM-US 19 14675058 14675058 single base substitution C T exon_variant SKCM-US 19 14675058 14675058 single base substitution C T missense_variant R150C 448C>T SKCM-US 19 14675058 14675058 single base substitution C T missense_variant R165C 493C>T SKCM-US 19 14675058 14675058 single base substitution C T synonymous_variant T6T 18C>T SKCM-US 19 14675058 14675058 single base substitution C T upstream_gene_variant SKCM-US 19 14676599 14676599 single base substitution G A 3_prime_UTR_variant SKCM-US 19 14676599 14676599 single base substitution G A downstream_gene_variant SKCM-US 19 14676599 14676599 single base substitution G A exon_variant SKCM-US 19 14676599 14676599 single base substitution G A stop_gained W123* 369G>A SKCM-US 19 14676599 14676599 single base substitution G A stop_gained W126* 378G>A SKCM-US 19 14676599 14676599 single base substitution G A stop_gained W281* 843G>A SKCM-US 19 14676599 14676599 single base substitution G A stop_gained W296* 888G>A SKCM-US 19 14677067 14677067 single base substitution G A downstream_gene_variant STAD-US 19 14626879 14626879 single base substitution C T upstream_gene_variant STAD-US 19 14629004 14629004 single base substitution T C intron_variant STAD-US 19 14629110 14629110 single base substitution C T intron_variant STAD-US 19 14675085 14675085 single base substitution C T 3_prime_UTR_variant STAD-US 19 14675085 14675085 single base substitution C T downstream_gene_variant STAD-US 19 14675085 14675085 single base substitution C T exon_variant STAD-US 19 14675085 14675085 single base substitution C T missense_variant R159C 475C>T STAD-US 19 14675085 14675085 single base substitution C T missense_variant R174C 520C>T STAD-US 19 14675085 14675085 single base substitution C T missense_variant R4C 10C>T STAD-US 19 14675085 14675085 single base substitution C T synonymous_variant C15C 45C>T STAD-US 19 14675085 14675085 single base substitution C T upstream_gene_variant STAD-US 19 14677059 14677059 single base substitution C T downstream_gene_variant UCEC-US 19 14626936 14626936 single base substitution G A upstream_gene_variant UCEC-US 19 14627318 14627318 single base substitution C T upstream_gene_variant UCEC-US 19 14627332 14627332 single base substitution G T upstream_gene_variant UCEC-US 19 14627348 14627348 single base substitution T C upstream_gene_variant UCEC-US 19 14627470 14627470 single base substitution T A upstream_gene_variant UCEC-US 19 14627677 14627677 single base substitution G T upstream_gene_variant UCEC-US 19 14673357 14673357 single base substitution G T 5_prime_UTR_variant UCEC-US 19 14673357 14673357 single base substitution G T exon_variant UCEC-US 19 14673357 14673357 single base substitution G T missense_variant D14Y 40G>T UCEC-US 19 14673357 14673357 single base substitution G T missense_variant K12N 36G>T UCEC-US 19 14673357 14673357 single base substitution G T missense_variant K27N 81G>T UCEC-US 19 14673357 14673357 single base substitution G T upstream_gene_variant UCEC-US 19 14673364 14673364 single base substitution G T 5_prime_UTR_variant UCEC-US 19 14673364 14673364 single base substitution G T exon_variant UCEC-US 19 14673364 14673364 single base substitution G T missense_variant G16V 47G>T UCEC-US 19 14673364 14673364 single base substitution G T stop_gained E15* 43G>T UCEC-US 19 14673364 14673364 single base substitution G T stop_gained E30* 88G>T UCEC-US 19 14673364 14673364 single base substitution G T upstream_gene_variant UCEC-US 19 14677610 14677610 single base substitution T G downstream_gene_variant UCEC-US 19 14677627 14677627 single base substitution G T downstream_gene_variant UCEC-US 19 14677665 14677665 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-EE-A3AC-06 COSM3529371 c.843G>A p.W281* Substitution - Nonsense 19:14565787-14565787 + CPCG_0006_Pr_P_F0 COSM3396313 c.286G>A p.A96T Substitution - Missense 19:14564000-14564000 + CPCG0006-F1 COSM3396313 c.286G>A p.A96T Substitution - Missense 19:14564000-14564000 + TCGA-EB-A431-01 COSM3529370 c.273C>T p.F91F Substitution - coding silent 19:14563987-14563987 + HCT15 COSM1680740 c.67G>A p.V23M Substitution - Missense 19:14563206-14563206 + WSU-HN12 COSM4590106 c.131A>C p.Y44S Substitution - Missense 19:14563670-14563670 + TCGA-36-2537-01 COSM1325458 c.293C>T p.P98L Substitution - Missense 19:14564007-14564007 + 61 COSM5741470 c.122C>T p.P41L Substitution - Missense 19:14563661-14563661 + 587220 COSM1228868 c.595G>A p.A199T Substitution - Missense 19:14564981-14564981 + TCGA-D7-A4YV-01 COSM4074845 c.475C>T p.R159C Substitution - Missense 19:14564273-14564273 + RMS105_ COSM4590106 c.131A>C p.Y44S Substitution - Missense 19:14563670-14563670 + BCM723T COSM4956544 c.220G>A p.A74T Substitution - Missense 19:14563856-14563856 + ESCC_1 COSM5622436 c.799+1G>A p.? Unknown 19:14565664-14565664 + RH18C COSM4590106 c.131A>C p.Y44S Substitution - Missense 19:14563670-14563670 + TCGA-EE-A3JB-06 COSM4898226 c.448C>T p.R150C Substitution - Missense 19:14564246-14564246 + ACINAR20 COSM1733314 c.620G>A p.G207D Substitution - Missense 19:14565079-14565079 + TCGA-H4-A2HQ-01 COSM1304096 c.547C>G p.L183V Substitution - Missense 19:14564843-14564843 + LC_C27 COSM1189909 c.121C>T p.P41S Substitution - Missense 19:14563660-14563660 + ATL065 COSM5706874 c.639G>T p.M213I Substitution - Missense 19:14565098-14565098 + RMS10_ COSM4590106 c.131A>C p.Y44S Substitution - Missense 19:14563670-14563670 + UM-SCC-4 COSM4590106 c.131A>C p.Y44S Substitution - Missense 19:14563670-14563670 + T2940 COSM1390963 c.79G>A p.A27T Substitution - Missense 19:14563218-14563218 + T2929 COSM4732970 c.95T>G p.I32S Substitution - Missense 19:14563234-14563234 + 01-P131 COSM4580702 c.657G>T p.R219R Substitution - coding silent 19:14565116-14565116 + UM-SCC-2 COSM4590106 c.131A>C p.Y44S Substitution - Missense 19:14563670-14563670 + BCM723T COSM4956544 c.220G>A p.A74T Substitution - Missense 19:14563856-14563856 + CSCC-31-T COSM4516022 c.150_151CC>TT p.R51C Substitution - Missense 19:14563689-14563690 + BCM337T COSM4799177 c.51G>A p.L17L Substitution - coding silent 19:14562560-14562560 + PTC-28C COSM4131287 c.822C>T p.G274G Substitution - coding silent 19:14565766-14565766 + 93VU147T COSM4590106 c.131A>C p.Y44S Substitution - Missense 19:14563670-14563670 + RMS112_ COSM4590106 c.131A>C p.Y44S Substitution - Missense 19:14563670-14563670 + RMS1_ COSM4590106 c.131A>C p.Y44S Substitution - Missense 19:14563670-14563670 + RMS85_ COSM4590106 c.131A>C p.Y44S Substitution - Missense 19:14563670-14563670 + TCGA-A5-A0GN-01 COSM991919 c.235C>T p.R79W Substitution - Missense 19:14563871-14563871 + 587228 COSM1228870 c.287C>T p.A96V Substitution - Missense 19:14564001-14564001 + CAL27 COSM4590106 c.131A>C p.Y44S Substitution - Missense 19:14563670-14563670 + HCC022T COSM5817622 c.381G>T p.V127V Substitution - coding silent 19:14564095-14564095 + TCGA-F5-6814-01 COSM3422464 c.352G>T p.D118Y Substitution - Missense 19:14564066-14564066 + T3174 COSM3396313 c.286G>A p.A96T Substitution - Missense 19:14564000-14564000 + LOVO COSM3282257 c.118C>A p.H40N Substitution - Missense 19:14563257-14563257 + TCGA-BS-A0UV-01 COSM991917 c.36G>T p.K12N Substitution - Missense 19:14562545-14562545 + 587228 COSM1228869 c.152G>A p.R51H Substitution - Missense 19:14563691-14563691 + UM-SCC-11B COSM4590106 c.131A>C p.Y44S Substitution - Missense 19:14563670-14563670 + TCGA-G4-6628-01 COSM1390963 c.79G>A p.A27T Substitution - Missense 19:14563218-14563218 + ccRCC-22 COSM1664517 c.610T>A p.C204S Substitution - Missense 19:14565069-14565069 + PET052T COSM5824781 c.300C>A p.F100L Substitution - Missense 19:14564014-14564014 + 226 COSM3730248 c.363_364delCA p.R123fs*>186 Deletion - Frameshift 19:14564077-14564078 + LIM1215 COSM4612898 c.162_163delCA p.K55fs*7 Deletion - Frameshift 19:14563701-14563702 + Pat_63_A COSM5854814 c.647G>A p.R216Q Substitution - Missense 19:14565106-14565106 + ACINAR03 COSM1228868 c.595G>A p.A199T Substitution - Missense 19:14564981-14564981 + WSU-HN13 COSM4590106 c.131A>C p.Y44S Substitution - Missense 19:14563670-14563670 + TCGA-EI-6917-01 COSM3422465 c.513C>T p.F171F Substitution - coding silent 19:14564809-14564809 + SCC-25 COSM4590106 c.131A>C p.Y44S Substitution - Missense 19:14563670-14563670 + 8053117 COSM3772518 c.623A>G p.N208S Substitution - Missense 19:14565082-14565082 + TCGA-FS-A1ZE-06 COSM3529369 c.227T>A p.L76Q Substitution - Missense 19:14563863-14563863 + T3182 COSM4732971 c.360G>A p.T120T Substitution - coding silent 19:14564074-14564074 + TCGA-CM-6162-01 COSM1390964 c.422G>A p.R141H Substitution - Missense 19:14564220-14564220 + TCGA-B6-A1KF-01 COSM1390963 c.79G>A p.A27T Substitution - Missense 19:14563218-14563218 + SJHGG003_A COSM4968938 c.296T>C p.L99P Substitution - Missense 19:14564010-14564010 + CSCC-40-T COSM4550958 c.514G>A p.A172T Substitution - Missense 19:14564810-14564810 + BCM337T COSM4799177 c.51G>A p.L17L Substitution - coding silent 19:14562560-14562560 + T3080 COSM3282259 c.139C>T p.R47C Substitution - Missense 19:14563678-14563678 + ESCC_11 COSM5624388 c.568G>T p.G190* Substitution - Nonsense 19:14564954-14564954 + HCT-15 COSM1680740 c.67G>A p.V23M Substitution - Missense 19:14563206-14563206 + BK0098 COSM4189056 c.284A>T p.Y95F Substitution - Missense 19:14563998-14563998 + 587332 COSM1228869 c.152G>A p.R51H Substitution - Missense 19:14563691-14563691 + TCGA-25-2393-01 COSM117144 c.476G>A p.R159H Substitution - Missense 19:14564274-14564274 + J54_T COSM3959614 c.388G>A p.A130T Substitution - Missense 19:14564186-14564186 + CSCC-40-T COSM4450722 c.800-1G>C p.? Unknown 19:14565743-14565743 + TCGA-GV-A3QI-01 COSM1304095 c.15G>A p.E5E Substitution - coding silent 19:14529711-14529711 + TCGA-G9-6342-01 COSM3672746 c.322C>A p.R108R Substitution - coding silent 19:14564036-14564036 + TCGA-AP-A0LM-01 COSM991918 c.43G>T p.E15* Substitution - Nonsense 19:14562552-14562552 + SNU-C1 COSM3282268 c.774C>T p.F258F Substitution - coding silent 19:14565638-14565638 + TCGA-BC-A10R-01 COSM4935935 c.856C>A p.H286N Substitution - Missense 19:14565800-14565800 + sysucc-966T COSM5487071 c.267G>A p.T89T Substitution - coding silent 19:14563903-14563903 + RMS88_ COSM4590106 c.131A>C p.Y44S Substitution - Missense 19:14563670-14563670 + LUAD-NYU1096 COSM369167 c.65A>T p.K22M Substitution - Missense 19:14562574-14562574 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.515642 19p13.12 610057 1530642|dbSNP|BC002425|C/T|coding|Ala221Val|723|Validated; 1530642|dbSNP|BC005952|C/T|coding|Ala221Val|734|Validated; 1530642|dbSNP|BC007801|C/T|coding|Ala221Val|741|Validated; 1530642|dbSNP|BC013881|C/T|coding|Ala221Val|739|Validated; 1530768|dbSNP|BC002425|A/C|non-coding||1053|Validated; 1530768|dbSNP|BC005952|A/C|non-coding||1064|Validated; 1530768|dbSNP|BC007801|A/C|non-coding||1071|Validated; 1530768|dbSNP|BC013881|A/C|non-coding||1069|Validated; 2422629|dbSNP|BC002425|C/T|coding|Gly274Gly|883|Validated; 2422629|dbSNP|BC005952|C/T|coding|Gly274Gly|894|Validated; 2422629|dbSNP|BC007801|C/T|coding|Gly274Gly|901|Validated; 2422629|dbSNP|BC013881|C/T|coding|Gly274Gly|899|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.Q42L c.125A>T 19 14674476 HNSC C G Missense p.L183V c.547C>G 19 14675655 BLCA C T Missense p.P187S c.559C>T 19 14675667 HNSC C T Missense p.P231L c.692C>T 19 14676041 HNSC C T Missense p.R141C c.421C>T 19 14675031 BRCA C T Missense p.R150C c.448C>T 19 14675058 CM C T Missense p.S58F c.173C>T 19 14674621 CM - G 5-UTRInsertion . c.1-68dupG 19 14640439 CM G A Missense p.A27T c.79G>A 19 14674030 BRCA G A Missense p.R159H c.476G>A 19 14675086 OV G A Nonsense p.W281* c.843G>A 19 14676599 CM G A Synonymous p.E5E c.15G>A 19 14640523 BLCA G T 3-UTRSNV . c.924+97G>T 19 14676777 MB T A Missense p.L76Q c.227T>A 19 14674675 CM - T SpliceDonorInsertion . c.383+2dupT 19 14674911 LUAD