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 6 52960318 52960318 + Missense_Mutation SNP T T G TCGA-OR-A5JP-01A-11D-A29I-10 TCGA-OR-A5JP-10A-01D-A29L-10 g.chr6:52960318T>G c.1091T>G c.(1090-1092)cTt>cGt p.L364R BLCA 6 52945872 52945872 + Missense_Mutation SNP G G C TCGA-E7-A7DV-01A-11D-A339-08 TCGA-E7-A7DV-10A-01D-A339-08 g.chr6:52945872G>C c.544G>C c.(544-546)Gag>Cag p.E182Q BLCA 6 52957257 52957257 + Silent SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 g.chr6:52957257G>A c.714G>A c.(712-714)ttG>ttA p.L238L BLCA 6 52960341 52960341 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr6:52960341C>T c.1114C>T c.(1114-1116)Cgt>Tgt p.R372C BLCA 6 52962551 52962551 + Missense_Mutation SNP G G C TCGA-5N-A9KI-01A-31D-A42E-08 TCGA-5N-A9KI-10A-01D-A42H-08 g.chr6:52962551G>C c.1267G>C c.(1267-1269)Gag>Cag p.E423Q BRCA 6 52960341 52960341 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr6:52960341C>T c.1114C>T c.(1114-1116)Cgt>Tgt p.R372C CESC 6 52935903 52935903 + Missense_Mutation SNP G G A TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 g.chr6:52935903G>A c.82G>A c.(82-84)Gat>Aat p.D28N CESC 6 52958272 52958272 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr6:52958272G>A c.902G>A c.(901-903)aGa>aAa p.R301K COAD 6 52935852 52935852 + Nonsense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr6:52935852C>T c.31C>T c.(31-33)Cag>Tag p.Q11* COAD 6 52935854 52935854 + Missense_Mutation SNP G G T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr6:52935854G>T c.33G>T c.(31-33)caG>caT p.Q11H COAD 6 52945766 52945766 + Splice_Site SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr6:52945766C>T c.438C>T c.(436-438)taC>taT p.Y146Y COAD 6 52957244 52957244 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr6:52957244G>A c.701G>A c.(700-702)cGt>cAt p.R234H COAD 6 52958264 52958264 + Splice_Site SNP G G T TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr6:52958264G>T c.894G>T c.(892-894)agG>agT p.R298S COAD 6 52962584 52962584 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:52962584G>A c.1300G>A c.(1300-1302)Gcc>Acc p.A434T COAD 6 52962605 52962605 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:52962605G>A c.1321G>A c.(1321-1323)Gct>Act p.A441T COADREAD 6 52935852 52935852 + Nonsense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr6:52935852C>T c.31C>T c.(31-33)Cag>Tag p.Q11* COADREAD 6 52935854 52935854 + Missense_Mutation SNP G G T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr6:52935854G>T c.33G>T c.(31-33)caG>caT p.Q11H COADREAD 6 52945766 52945766 + Splice_Site SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr6:52945766C>T c.438C>T c.(436-438)taC>taT p.Y146Y COADREAD 6 52957244 52957244 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr6:52957244G>A c.701G>A c.(700-702)cGt>cAt p.R234H COADREAD 6 52958264 52958264 + Splice_Site SNP G G T TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr6:52958264G>T c.894G>T c.(892-894)agG>agT p.R298S COADREAD 6 52958696 52958696 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:52958696C>A c.1003C>A c.(1003-1005)Cta>Ata p.L335I COADREAD 6 52962584 52962584 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:52962584G>A c.1300G>A c.(1300-1302)Gcc>Acc p.A434T COADREAD 6 52962605 52962605 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr6:52962605G>A c.1321G>A c.(1321-1323)Gct>Act p.A441T ESCA 6 52957602 52957602 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 g.chr6:52957602G>T c.873G>T c.(871-873)tgG>tgT p.W291C ESCA 6 52960336 52960336 + Missense_Mutation SNP A A G TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 g.chr6:52960336A>G c.1109A>G c.(1108-1110)tAt>tGt p.Y370C HNSC 6 52957298 52957298 + Missense_Mutation SNP C C T TCGA-HD-8634-01A-11D-2394-08 TCGA-HD-8634-10A-01D-2394-08 g.chr6:52957298C>T c.755C>T c.(754-756)aCg>aTg p.T252M HNSC 6 52960428 52960428 + Missense_Mutation SNP A A G TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr6:52960428A>G c.1201A>G c.(1201-1203)Atc>Gtc p.I401V KIPAN 6 52945852 52945852 + Missense_Mutation SNP A A C TCGA-AK-3431-01A-02D-1361-10 TCGA-AK-3431-10A-01D-1361-10 g.chr6:52945852A>C c.524A>C c.(523-525)aAa>aCa p.K175T KIPAN 6 52957228 52957228 + Splice_Site SNP G G T TCGA-B0-4846-01A-01D-1361-10 TCGA-B0-4846-11A-01D-1361-10 g.chr6:52957228G>T c.685G>T c.(685-687)Gac>Tac p.D229Y KIRC 6 52945852 52945852 + Missense_Mutation SNP A A C TCGA-AK-3431-01A-02D-1361-10 TCGA-AK-3431-10A-01D-1361-10 g.chr6:52945852A>C c.524A>C c.(523-525)aAa>aCa p.K175T KIRC 6 52957228 52957228 + Splice_Site SNP G G T TCGA-B0-4846-01A-01D-1361-10 TCGA-B0-4846-11A-01D-1361-10 g.chr6:52957228G>T c.685G>T c.(685-687)Gac>Tac p.D229Y LUSC 6 52945894 52945894 + Missense_Mutation SNP C C T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr6:52945894C>T c.566C>T c.(565-567)tCa>tTa p.S189L READ 6 52958696 52958696 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:52958696C>A c.1003C>A c.(1003-1005)Cta>Ata p.L335I SARC 6 52957542 52957542 + Silent SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr6:52957542C>T c.813C>T c.(811-813)atC>atT p.I271I SKCM 6 52943611 52943611 + Missense_Mutation SNP C C T TCGA-EE-A2MP-06A-11D-A197-08 TCGA-EE-A2MP-10A-01D-A199-08 g.chr6:52943611C>T c.352C>T c.(352-354)Cgt>Tgt p.R118C SKCM 6 52957291 52957291 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr6:52957291C>T c.748C>T c.(748-750)Ccg>Tcg p.P250S SKCM 6 52960377 52960377 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr6:52960377C>T c.1150C>T c.(1150-1152)Cat>Tat p.H384Y SKCM 6 52962573 52962573 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr6:52962573C>T c.1289C>T c.(1288-1290)cCc>cTc p.P430L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 6 52958712 52958712 single base substitution G A downstream_gene_variant ALL-US 6 52958712 52958712 single base substitution G A exon_variant ALL-US 6 52958712 52958712 single base substitution G A missense_variant R296H 887G>A ALL-US 6 52958712 52958712 single base substitution G A missense_variant R330H 989G>A ALL-US 6 52958712 52958712 single base substitution G A missense_variant R340H 1019G>A ALL-US 6 52958712 52958712 single base substitution G A missense_variant R38H 113G>A ALL-US 6 52958712 52958712 single base substitution G A missense_variant R47H 140G>A BRCA-EU 6 52912193 52912193 single base substitution C G upstream_gene_variant BRCA-EU 6 52914129 52914129 single base substitution T C upstream_gene_variant BRCA-EU 6 52915634 52915634 single base substitution A T upstream_gene_variant BRCA-EU 6 52915635 52915635 single base substitution T A upstream_gene_variant BRCA-EU 6 52917638 52917638 single base substitution C T intron_variant BRCA-EU 6 52917638 52917638 single base substitution C T upstream_gene_variant BRCA-EU 6 52919106 52919106 single base substitution G A intron_variant BRCA-EU 6 52919106 52919106 single base substitution G A upstream_gene_variant BRCA-EU 6 52919636 52919636 single base substitution G A intron_variant BRCA-EU 6 52920344 52920344 single base substitution T C intron_variant BRCA-EU 6 52920978 52920978 single base substitution A T intron_variant BRCA-EU 6 52921985 52921985 single base substitution T C intron_variant BRCA-EU 6 52925351 52925351 single base substitution C A intron_variant BRCA-EU 6 52925351 52925351 single base substitution C A upstream_gene_variant BRCA-EU 6 52925504 52925504 single base substitution T C intron_variant BRCA-EU 6 52925504 52925504 single base substitution T C upstream_gene_variant BRCA-EU 6 52925573 52925573 single base substitution A T intron_variant BRCA-EU 6 52925573 52925573 single base substitution A T upstream_gene_variant BRCA-EU 6 52926608 52926608 single base substitution G C intron_variant BRCA-EU 6 52926608 52926608 single base substitution G C upstream_gene_variant BRCA-EU 6 52926847 52926847 single base substitution C A intron_variant BRCA-EU 6 52926847 52926847 single base substitution C A upstream_gene_variant BRCA-EU 6 52927587 52927587 single base substitution T C intron_variant BRCA-EU 6 52927587 52927587 single base substitution T C upstream_gene_variant BRCA-EU 6 52929233 52929233 single base substitution C T intron_variant BRCA-EU 6 52929233 52929233 single base substitution C T upstream_gene_variant BRCA-EU 6 52931164 52931164 single base substitution G T intron_variant BRCA-EU 6 52931164 52931164 single base substitution G T upstream_gene_variant BRCA-EU 6 52932299 52932299 single base substitution G C intron_variant BRCA-EU 6 52932299 52932299 single base substitution G C upstream_gene_variant BRCA-EU 6 52933630 52933630 single base substitution T C downstream_gene_variant BRCA-EU 6 52933630 52933630 single base substitution T C intron_variant BRCA-EU 6 52933630 52933630 single base substitution T C upstream_gene_variant BRCA-EU 6 52933745 52933745 single base substitution G T downstream_gene_variant BRCA-EU 6 52933745 52933745 single base substitution G T intron_variant BRCA-EU 6 52933745 52933745 single base substitution G T upstream_gene_variant BRCA-EU 6 52934172 52934172 single base substitution G A downstream_gene_variant BRCA-EU 6 52934172 52934172 single base substitution G A intron_variant BRCA-EU 6 52934172 52934172 single base substitution G A upstream_gene_variant BRCA-EU 6 52934430 52934430 single base substitution C T downstream_gene_variant BRCA-EU 6 52934430 52934430 single base substitution C T intron_variant BRCA-EU 6 52934430 52934430 single base substitution C T upstream_gene_variant BRCA-EU 6 52935326 52935326 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 52935326 52935326 deletion of <=200bp A - intron_variant BRCA-EU 6 52935326 52935326 deletion of <=200bp A - upstream_gene_variant BRCA-EU 6 52935544 52935544 single base substitution G T downstream_gene_variant BRCA-EU 6 52935544 52935544 single base substitution G T intron_variant BRCA-EU 6 52935544 52935544 single base substitution G T upstream_gene_variant BRCA-EU 6 52937123 52937123 single base substitution G A downstream_gene_variant BRCA-EU 6 52937123 52937123 single base substitution G A intron_variant BRCA-EU 6 52937123 52937123 single base substitution G A upstream_gene_variant BRCA-EU 6 52938954 52938954 single base substitution C T downstream_gene_variant BRCA-EU 6 52938954 52938954 single base substitution C T intron_variant BRCA-EU 6 52938954 52938954 single base substitution C T upstream_gene_variant BRCA-EU 6 52939168 52939168 single base substitution G T downstream_gene_variant BRCA-EU 6 52939168 52939168 single base substitution G T intron_variant BRCA-EU 6 52939168 52939168 single base substitution G T upstream_gene_variant BRCA-EU 6 52939767 52939767 single base substitution C G downstream_gene_variant BRCA-EU 6 52939767 52939767 single base substitution C G intron_variant BRCA-EU 6 52939767 52939767 single base substitution C G upstream_gene_variant BRCA-EU 6 52941800 52941800 deletion of <=200bp T - downstream_gene_variant BRCA-EU 6 52941800 52941800 deletion of <=200bp T - intron_variant BRCA-EU 6 52941800 52941800 deletion of <=200bp T - upstream_gene_variant BRCA-EU 6 52942526 52942526 single base substitution T G downstream_gene_variant BRCA-EU 6 52942526 52942526 single base substitution T G intron_variant BRCA-EU 6 52942526 52942526 single base substitution T G upstream_gene_variant BRCA-EU 6 52946149 52946149 single base substitution A T downstream_gene_variant BRCA-EU 6 52946149 52946149 single base substitution A T intron_variant BRCA-EU 6 52946362 52946362 single base substitution C T downstream_gene_variant BRCA-EU 6 52946362 52946362 single base substitution C T intron_variant BRCA-EU 6 52947235 52947235 single base substitution T C downstream_gene_variant BRCA-EU 6 52947235 52947235 single base substitution T C intron_variant BRCA-EU 6 52950149 52950149 single base substitution A G downstream_gene_variant BRCA-EU 6 52950149 52950149 single base substitution A G intron_variant BRCA-EU 6 52950596 52950596 single base substitution G C downstream_gene_variant BRCA-EU 6 52950596 52950596 single base substitution G C intron_variant BRCA-EU 6 52950803 52950803 single base substitution C T downstream_gene_variant BRCA-EU 6 52950803 52950803 single base substitution C T intron_variant BRCA-EU 6 52950803 52950803 single base substitution C T upstream_gene_variant BRCA-EU 6 52950935 52950935 single base substitution G A intron_variant BRCA-EU 6 52950935 52950935 single base substitution G A upstream_gene_variant BRCA-EU 6 52951177 52951177 single base substitution C G intron_variant BRCA-EU 6 52951177 52951177 single base substitution C G upstream_gene_variant BRCA-EU 6 52952513 52952513 single base substitution G A intron_variant BRCA-EU 6 52952513 52952513 single base substitution G A upstream_gene_variant BRCA-EU 6 52953092 52953092 deletion of <=200bp A - intron_variant BRCA-EU 6 52953092 52953092 deletion of <=200bp A - upstream_gene_variant BRCA-EU 6 52953858 52953858 deletion of <=200bp T - intron_variant BRCA-EU 6 52953858 52953858 deletion of <=200bp T - upstream_gene_variant BRCA-EU 6 52954772 52954772 single base substitution G C intron_variant BRCA-EU 6 52954772 52954772 single base substitution G C upstream_gene_variant BRCA-EU 6 52955043 52955043 single base substitution T C intron_variant BRCA-EU 6 52955043 52955043 single base substitution T C upstream_gene_variant BRCA-EU 6 52955221 52955221 single base substitution G A intron_variant BRCA-EU 6 52955221 52955221 single base substitution G A upstream_gene_variant BRCA-EU 6 52955500 52955500 single base substitution A G intron_variant BRCA-EU 6 52955500 52955500 single base substitution A G upstream_gene_variant BRCA-EU 6 52957019 52957019 single base substitution C T exon_variant BRCA-EU 6 52957019 52957019 single base substitution C T intron_variant BRCA-EU 6 52957019 52957019 single base substitution C T upstream_gene_variant BRCA-EU 6 52958998 52958998 deletion of <=200bp T - downstream_gene_variant BRCA-EU 6 52958998 52958998 deletion of <=200bp T - intron_variant BRCA-EU 6 52959100 52959100 insertion of <=200bp - T downstream_gene_variant BRCA-EU 6 52959100 52959100 insertion of <=200bp - T intron_variant BRCA-EU 6 52959107 52959107 single base substitution T C downstream_gene_variant BRCA-EU 6 52959107 52959107 single base substitution T C intron_variant BRCA-EU 6 52959289 52959289 single base substitution G A downstream_gene_variant BRCA-EU 6 52959289 52959289 single base substitution G A intron_variant BRCA-EU 6 52960133 52960133 single base substitution G C downstream_gene_variant BRCA-EU 6 52960133 52960133 single base substitution G C intron_variant BRCA-EU 6 52961515 52961515 single base substitution C A downstream_gene_variant BRCA-EU 6 52961515 52961515 single base substitution C A intron_variant BRCA-EU 6 52962507 52962507 deletion of <=200bp T - downstream_gene_variant BRCA-EU 6 52962507 52962507 deletion of <=200bp T - intron_variant BRCA-EU 6 52962832 52962832 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 6 52962832 52962832 deletion of <=200bp T - downstream_gene_variant BRCA-EU 6 52962832 52962832 deletion of <=200bp T - intron_variant BRCA-EU 6 52965131 52965133 deletion of <=200bp GCT - 3_prime_UTR_variant BRCA-EU 6 52965131 52965133 deletion of <=200bp GCT - downstream_gene_variant BRCA-EU 6 52968199 52968199 single base substitution G A downstream_gene_variant BRCA-EU 6 52968715 52968715 single base substitution C A downstream_gene_variant BRCA-EU 6 52969557 52969557 single base substitution T C downstream_gene_variant BRCA-EU 6 52969849 52969849 single base substitution G C downstream_gene_variant BRCA-EU 6 52970151 52970151 deletion of <=200bp T - downstream_gene_variant BRCA-EU 6 52970287 52970287 single base substitution G A downstream_gene_variant BRCA-EU 6 52970634 52970634 single base substitution C T downstream_gene_variant BRCA-FR 6 52919106 52919106 single base substitution G A intron_variant BRCA-FR 6 52919106 52919106 single base substitution G A upstream_gene_variant BRCA-FR 6 52926511 52926511 single base substitution G A intron_variant BRCA-FR 6 52926511 52926511 single base substitution G A upstream_gene_variant BRCA-FR 6 52927580 52927580 single base substitution G C intron_variant BRCA-FR 6 52927580 52927580 single base substitution G C upstream_gene_variant BRCA-FR 6 52929233 52929233 single base substitution C T intron_variant BRCA-FR 6 52929233 52929233 single base substitution C T upstream_gene_variant BRCA-FR 6 52931164 52931164 single base substitution G T intron_variant BRCA-FR 6 52931164 52931164 single base substitution G T upstream_gene_variant BRCA-FR 6 52942100 52942100 single base substitution G A downstream_gene_variant BRCA-FR 6 52942100 52942100 single base substitution G A intron_variant BRCA-FR 6 52942100 52942100 single base substitution G A upstream_gene_variant BRCA-FR 6 52942128 52942128 single base substitution C G downstream_gene_variant BRCA-FR 6 52942128 52942128 single base substitution C G intron_variant BRCA-FR 6 52942128 52942128 single base substitution C G upstream_gene_variant BRCA-FR 6 52950596 52950596 single base substitution G C downstream_gene_variant BRCA-FR 6 52950596 52950596 single base substitution G C intron_variant BRCA-FR 6 52965017 52965017 single base substitution G A 3_prime_UTR_variant BRCA-FR 6 52965017 52965017 single base substitution G A downstream_gene_variant BRCA-FR 6 52968199 52968199 single base substitution G A downstream_gene_variant BRCA-FR 6 52968715 52968715 single base substitution C A downstream_gene_variant BRCA-UK 6 52912949 52912949 single base substitution C G upstream_gene_variant BRCA-US 6 52960341 52960341 single base substitution C T downstream_gene_variant BRCA-US 6 52960341 52960341 single base substitution C T exon_variant BRCA-US 6 52960341 52960341 single base substitution C T missense_variant R120C 358C>T BRCA-US 6 52960341 52960341 single base substitution C T missense_variant R328C 982C>T BRCA-US 6 52960341 52960341 single base substitution C T missense_variant R362C 1084C>T BRCA-US 6 52960341 52960341 single base substitution C T missense_variant R372C 1114C>T BRCA-US 6 52960341 52960341 single base substitution C T missense_variant R79C 235C>T BTCA-JP 6 52938481 52938481 single base substitution T G downstream_gene_variant BTCA-JP 6 52938481 52938481 single base substitution T G exon_variant BTCA-JP 6 52938481 52938481 single base substitution T G intron_variant BTCA-JP 6 52957180 52957180 single base substitution A G exon_variant BTCA-JP 6 52957180 52957180 single base substitution A G intron_variant BTCA-JP 6 52957180 52957180 single base substitution A G upstream_gene_variant BTCA-JP 6 52962724 52962724 single base substitution G A 3_prime_UTR_variant BTCA-JP 6 52962724 52962724 single base substitution G A downstream_gene_variant BTCA-JP 6 52962724 52962724 single base substitution G A intron_variant CESC-US 6 52935903 52935903 single base substitution G A 5_prime_UTR_variant CESC-US 6 52935903 52935903 single base substitution G A downstream_gene_variant CESC-US 6 52935903 52935903 single base substitution G A exon_variant CESC-US 6 52935903 52935903 single base substitution G A missense_variant D18N 52G>A CESC-US 6 52935903 52935903 single base substitution G A missense_variant D28N 82G>A CESC-US 6 52935903 52935903 single base substitution G A upstream_gene_variant CESC-US 6 52958272 52958272 single base substitution G A downstream_gene_variant CESC-US 6 52958272 52958272 single base substitution G A exon_variant CESC-US 6 52958272 52958272 single base substitution G A missense_variant R257K 770G>A CESC-US 6 52958272 52958272 single base substitution G A missense_variant R291K 872G>A CESC-US 6 52958272 52958272 single base substitution G A missense_variant R301K 902G>A CESC-US 6 52958272 52958272 single base substitution G A missense_variant R8K 23G>A CESC-US 6 52958272 52958272 single base substitution G A upstream_gene_variant CLLE-ES 6 52933075 52933075 single base substitution G A downstream_gene_variant CLLE-ES 6 52933075 52933075 single base substitution G A intron_variant CLLE-ES 6 52933075 52933075 single base substitution G A upstream_gene_variant CLLE-ES 6 52936353 52936353 single base substitution G A downstream_gene_variant CLLE-ES 6 52936353 52936353 single base substitution G A intron_variant CLLE-ES 6 52936353 52936353 single base substitution G A upstream_gene_variant CLLE-ES 6 52952250 52952250 single base substitution G C intron_variant CLLE-ES 6 52952250 52952250 single base substitution G C upstream_gene_variant CLLE-ES 6 52955373 52955373 single base substitution G T intron_variant CLLE-ES 6 52955373 52955373 single base substitution G T upstream_gene_variant COAD-US 6 52935854 52935854 single base substitution G T downstream_gene_variant COAD-US 6 52935854 52935854 single base substitution G T exon_variant COAD-US 6 52935854 52935854 single base substitution G T missense_variant Q11H 33G>T COAD-US 6 52935854 52935854 single base substitution G T splice_acceptor_variant COAD-US 6 52935854 52935854 single base substitution G T upstream_gene_variant COAD-US 6 52945766 52945766 single base substitution C T splice_region_variant COAD-US 6 52958264 52958264 single base substitution G T downstream_gene_variant COAD-US 6 52958264 52958264 single base substitution G T exon_variant COAD-US 6 52958264 52958264 single base substitution G T missense_variant R254S 762G>T COAD-US 6 52958264 52958264 single base substitution G T missense_variant R288S 864G>T COAD-US 6 52958264 52958264 single base substitution G T missense_variant R298S 894G>T COAD-US 6 52958264 52958264 single base substitution G T missense_variant R5S 15G>T COAD-US 6 52958264 52958264 single base substitution G T upstream_gene_variant COCA-CN 6 52927017 52927017 single base substitution T C intron_variant COCA-CN 6 52927017 52927017 single base substitution T C upstream_gene_variant COCA-CN 6 52930610 52930610 single base substitution C T intron_variant COCA-CN 6 52930610 52930610 single base substitution C T upstream_gene_variant COCA-CN 6 52938155 52938155 single base substitution G T intron_variant COCA-CN 6 52938155 52938155 single base substitution G T upstream_gene_variant COCA-CN 6 52943662 52943662 single base substitution C T exon_variant COCA-CN 6 52943662 52943662 single base substitution C T missense_variant R125W 373C>T COCA-CN 6 52943662 52943662 single base substitution C T missense_variant R135W 403C>T COCA-CN 6 52943662 52943662 single base substitution C T missense_variant R91W 271C>T COCA-CN 6 52943662 52943662 single base substitution C T upstream_gene_variant COCA-CN 6 52958533 52958533 single base substitution G T downstream_gene_variant COCA-CN 6 52958533 52958533 single base substitution G T intron_variant COCA-CN 6 52960343 52960343 single base substitution T G downstream_gene_variant COCA-CN 6 52960343 52960343 single base substitution T G exon_variant COCA-CN 6 52960343 52960343 single base substitution T G synonymous_variant R120R 360T>G COCA-CN 6 52960343 52960343 single base substitution T G synonymous_variant R328R 984T>G COCA-CN 6 52960343 52960343 single base substitution T G synonymous_variant R362R 1086T>G COCA-CN 6 52960343 52960343 single base substitution T G synonymous_variant R372R 1116T>G COCA-CN 6 52960343 52960343 single base substitution T G synonymous_variant R79R 237T>G COCA-CN 6 52960550 52960550 single base substitution C T downstream_gene_variant COCA-CN 6 52960550 52960550 single base substitution C T intron_variant ESAD-UK 6 52914516 52914516 single base substitution C T upstream_gene_variant ESAD-UK 6 52919478 52919478 single base substitution G A 5_prime_UTR_variant ESAD-UK 6 52919478 52919478 single base substitution G A intron_variant ESAD-UK 6 52922729 52922729 single base substitution G C intron_variant ESAD-UK 6 52923207 52923207 single base substitution A G intron_variant ESAD-UK 6 52923938 52923938 single base substitution A T intron_variant ESAD-UK 6 52924330 52924330 single base substitution C G intron_variant ESAD-UK 6 52927341 52927341 single base substitution C A intron_variant ESAD-UK 6 52927341 52927341 single base substitution C A upstream_gene_variant ESAD-UK 6 52929068 52929068 single base substitution G A intron_variant ESAD-UK 6 52929068 52929068 single base substitution G A upstream_gene_variant ESAD-UK 6 52930416 52930416 single base substitution G A 5_prime_UTR_variant ESAD-UK 6 52930416 52930416 single base substitution G A exon_variant ESAD-UK 6 52930416 52930416 single base substitution G A intron_variant ESAD-UK 6 52930416 52930416 single base substitution G A upstream_gene_variant ESAD-UK 6 52934209 52934209 single base substitution C A downstream_gene_variant ESAD-UK 6 52934209 52934209 single base substitution C A intron_variant ESAD-UK 6 52934209 52934209 single base substitution C A upstream_gene_variant ESAD-UK 6 52935326 52935326 single base substitution A G downstream_gene_variant ESAD-UK 6 52935326 52935326 single base substitution A G intron_variant ESAD-UK 6 52935326 52935326 single base substitution A G upstream_gene_variant ESAD-UK 6 52935628 52935628 single base substitution C T downstream_gene_variant ESAD-UK 6 52935628 52935628 single base substitution C T intron_variant ESAD-UK 6 52935628 52935628 single base substitution C T upstream_gene_variant ESAD-UK 6 52937922 52937922 single base substitution C G intron_variant ESAD-UK 6 52937922 52937922 single base substitution C G upstream_gene_variant ESAD-UK 6 52939673 52939673 single base substitution T A downstream_gene_variant ESAD-UK 6 52939673 52939673 single base substitution T A intron_variant ESAD-UK 6 52939673 52939673 single base substitution T A upstream_gene_variant ESAD-UK 6 52940181 52940181 single base substitution A T downstream_gene_variant ESAD-UK 6 52940181 52940181 single base substitution A T intron_variant ESAD-UK 6 52940181 52940181 single base substitution A T upstream_gene_variant ESAD-UK 6 52943904 52943904 single base substitution A C intron_variant ESAD-UK 6 52945480 52945480 single base substitution C T intron_variant ESAD-UK 6 52947252 52947252 single base substitution C T downstream_gene_variant ESAD-UK 6 52947252 52947252 single base substitution C T intron_variant ESAD-UK 6 52955689 52955689 single base substitution A T intron_variant ESAD-UK 6 52955689 52955689 single base substitution A T upstream_gene_variant ESAD-UK 6 52956141 52956141 single base substitution T G exon_variant ESAD-UK 6 52956141 52956141 single base substitution T G intron_variant ESAD-UK 6 52956141 52956141 single base substitution T G upstream_gene_variant ESAD-UK 6 52957228 52957228 single base substitution G A exon_variant ESAD-UK 6 52957228 52957228 single base substitution G A missense_variant D185N 553G>A ESAD-UK 6 52957228 52957228 single base substitution G A missense_variant D219N 655G>A ESAD-UK 6 52957228 52957228 single base substitution G A missense_variant D229N 685G>A ESAD-UK 6 52957228 52957228 single base substitution G A splice_region_variant ESAD-UK 6 52957228 52957228 single base substitution G A upstream_gene_variant ESAD-UK 6 52959765 52959765 deletion of <=200bp T - downstream_gene_variant ESAD-UK 6 52959765 52959765 deletion of <=200bp T - intron_variant ESAD-UK 6 52962143 52962143 single base substitution C G downstream_gene_variant ESAD-UK 6 52962143 52962143 single base substitution C G intron_variant ESAD-UK 6 52965201 52965201 single base substitution G A 3_prime_UTR_variant ESAD-UK 6 52965201 52965201 single base substitution G A downstream_gene_variant ESAD-UK 6 52966955 52966955 single base substitution G A downstream_gene_variant ESAD-UK 6 52970188 52970188 single base substitution C T downstream_gene_variant ESCA-CN 6 52938394 52938394 single base substitution C T exon_variant ESCA-CN 6 52938394 52938394 single base substitution C T missense_variant S35L 104C>T ESCA-CN 6 52938394 52938394 single base substitution C T missense_variant S69L 206C>T ESCA-CN 6 52938394 52938394 single base substitution C T missense_variant S79L 236C>T ESCA-CN 6 52938394 52938394 single base substitution C T upstream_gene_variant KIRC-US 6 52945852 52945852 single base substitution A C downstream_gene_variant KIRC-US 6 52945852 52945852 single base substitution A C exon_variant KIRC-US 6 52945852 52945852 single base substitution A C missense_variant K131T 392A>C KIRC-US 6 52945852 52945852 single base substitution A C missense_variant K165T 494A>C KIRC-US 6 52945852 52945852 single base substitution A C missense_variant K175T 524A>C KIRC-US 6 52957228 52957228 single base substitution G T exon_variant KIRC-US 6 52957228 52957228 single base substitution G T missense_variant D185Y 553G>T KIRC-US 6 52957228 52957228 single base substitution G T missense_variant D219Y 655G>T KIRC-US 6 52957228 52957228 single base substitution G T missense_variant D229Y 685G>T KIRC-US 6 52957228 52957228 single base substitution G T splice_region_variant KIRC-US 6 52957228 52957228 single base substitution G T upstream_gene_variant LICA-FR 6 52933548 52933548 single base substitution T G downstream_gene_variant LICA-FR 6 52933548 52933548 single base substitution T G intron_variant LICA-FR 6 52933548 52933548 single base substitution T G upstream_gene_variant LICA-FR 6 52934815 52934815 single base substitution C T downstream_gene_variant LICA-FR 6 52934815 52934815 single base substitution C T intron_variant LICA-FR 6 52934815 52934815 single base substitution C T upstream_gene_variant LICA-FR 6 52943604 52943604 single base substitution G T exon_variant LICA-FR 6 52943604 52943604 single base substitution G T missense_variant K105N 315G>T LICA-FR 6 52943604 52943604 single base substitution G T missense_variant K115N 345G>T LICA-FR 6 52943604 52943604 single base substitution G T missense_variant K71N 213G>T LICA-FR 6 52943604 52943604 single base substitution G T upstream_gene_variant LICA-FR 6 52952140 52952141 deletion of <=200bp AA - intron_variant LICA-FR 6 52952140 52952141 deletion of <=200bp AA - upstream_gene_variant LICA-FR 6 52967267 52967270 deletion of <=200bp TTTC - downstream_gene_variant LIHC-US 6 52957296 52957296 single base substitution C T exon_variant LIHC-US 6 52957296 52957296 single base substitution C T synonymous_variant Y207Y 621C>T LIHC-US 6 52957296 52957296 single base substitution C T synonymous_variant Y241Y 723C>T LIHC-US 6 52957296 52957296 single base substitution C T synonymous_variant Y251Y 753C>T LIHC-US 6 52957296 52957296 single base substitution C T upstream_gene_variant LINC-JP 6 52912408 52912408 single base substitution C A upstream_gene_variant LINC-JP 6 52914279 52914279 deletion of <=200bp A - upstream_gene_variant LINC-JP 6 52924619 52924619 single base substitution T C intron_variant LINC-JP 6 52926243 52926243 single base substitution C T intron_variant LINC-JP 6 52926243 52926243 single base substitution C T upstream_gene_variant LINC-JP 6 52928256 52928256 single base substitution A G intron_variant LINC-JP 6 52928256 52928256 single base substitution A G upstream_gene_variant LINC-JP 6 52938394 52938394 single base substitution C A exon_variant LINC-JP 6 52938394 52938394 single base substitution C A stop_gained S35* 104C>A LINC-JP 6 52938394 52938394 single base substitution C A stop_gained S69* 206C>A LINC-JP 6 52938394 52938394 single base substitution C A stop_gained S79* 236C>A LINC-JP 6 52938394 52938394 single base substitution C A upstream_gene_variant LINC-JP 6 52938481 52938481 single base substitution T G downstream_gene_variant LINC-JP 6 52938481 52938481 single base substitution T G exon_variant LINC-JP 6 52938481 52938481 single base substitution T G intron_variant LINC-JP 6 52953674 52953674 single base substitution A G intron_variant LINC-JP 6 52953674 52953674 single base substitution A G upstream_gene_variant LINC-JP 6 52959603 52959603 single base substitution A G downstream_gene_variant LINC-JP 6 52959603 52959603 single base substitution A G intron_variant LINC-JP 6 52959603 52959603 single base substitution A G synonymous_variant R97R 291A>G LINC-JP 6 52961617 52961617 single base substitution T G downstream_gene_variant LINC-JP 6 52961617 52961617 single base substitution T G intron_variant LINC-JP 6 52964854 52964854 single base substitution C A 3_prime_UTR_variant LINC-JP 6 52964854 52964854 single base substitution C A downstream_gene_variant LINC-JP 6 52969521 52969521 single base substitution G T downstream_gene_variant LIRI-JP 6 52913494 52913494 single base substitution G C upstream_gene_variant LIRI-JP 6 52913636 52913636 single base substitution T G upstream_gene_variant LIRI-JP 6 52914354 52914358 deletion of <=200bp GTCAT - upstream_gene_variant LIRI-JP 6 52914894 52914894 single base substitution C A upstream_gene_variant LIRI-JP 6 52916716 52916716 single base substitution A C upstream_gene_variant LIRI-JP 6 52917840 52917840 single base substitution G T intron_variant LIRI-JP 6 52917840 52917840 single base substitution G T upstream_gene_variant LIRI-JP 6 52918580 52918580 single base substitution A C intron_variant LIRI-JP 6 52918580 52918580 single base substitution A C upstream_gene_variant LIRI-JP 6 52920782 52920782 single base substitution T C intron_variant LIRI-JP 6 52927014 52927014 single base substitution T C intron_variant LIRI-JP 6 52927014 52927014 single base substitution T C upstream_gene_variant LIRI-JP 6 52927091 52927091 single base substitution A T intron_variant LIRI-JP 6 52927091 52927091 single base substitution A T upstream_gene_variant LIRI-JP 6 52927719 52927719 single base substitution C T intron_variant LIRI-JP 6 52927719 52927719 single base substitution C T upstream_gene_variant LIRI-JP 6 52929180 52929180 single base substitution A T intron_variant LIRI-JP 6 52929180 52929180 single base substitution A T upstream_gene_variant LIRI-JP 6 52931641 52931641 single base substitution T C intron_variant LIRI-JP 6 52931641 52931641 single base substitution T C upstream_gene_variant LIRI-JP 6 52931717 52931717 single base substitution A G intron_variant LIRI-JP 6 52931717 52931717 single base substitution A G upstream_gene_variant LIRI-JP 6 52931965 52931965 single base substitution G A intron_variant LIRI-JP 6 52931965 52931965 single base substitution G A upstream_gene_variant LIRI-JP 6 52932861 52932861 single base substitution A T downstream_gene_variant LIRI-JP 6 52932861 52932861 single base substitution A T intron_variant LIRI-JP 6 52932861 52932861 single base substitution A T upstream_gene_variant LIRI-JP 6 52933040 52933040 single base substitution T C downstream_gene_variant LIRI-JP 6 52933040 52933040 single base substitution T C intron_variant LIRI-JP 6 52933040 52933040 single base substitution T C upstream_gene_variant LIRI-JP 6 52933757 52933757 single base substitution T C downstream_gene_variant LIRI-JP 6 52933757 52933757 single base substitution T C intron_variant LIRI-JP 6 52933757 52933757 single base substitution T C upstream_gene_variant LIRI-JP 6 52935015 52935015 single base substitution A G downstream_gene_variant LIRI-JP 6 52935015 52935015 single base substitution A G intron_variant LIRI-JP 6 52935015 52935015 single base substitution A G upstream_gene_variant LIRI-JP 6 52937717 52937717 single base substitution C T downstream_gene_variant LIRI-JP 6 52937717 52937717 single base substitution C T intron_variant LIRI-JP 6 52937717 52937717 single base substitution C T upstream_gene_variant LIRI-JP 6 52939477 52939477 single base substitution A G downstream_gene_variant LIRI-JP 6 52939477 52939477 single base substitution A G intron_variant LIRI-JP 6 52939477 52939477 single base substitution A G upstream_gene_variant LIRI-JP 6 52940473 52940473 single base substitution A G downstream_gene_variant LIRI-JP 6 52940473 52940473 single base substitution A G intron_variant LIRI-JP 6 52940473 52940473 single base substitution A G upstream_gene_variant LIRI-JP 6 52940889 52940889 single base substitution A G downstream_gene_variant LIRI-JP 6 52940889 52940889 single base substitution A G intron_variant LIRI-JP 6 52940889 52940889 single base substitution A G upstream_gene_variant LIRI-JP 6 52944569 52944569 single base substitution G A intron_variant LIRI-JP 6 52945181 52945181 single base substitution T C intron_variant LIRI-JP 6 52945650 52945650 single base substitution G C intron_variant LIRI-JP 6 52945652 52945652 single base substitution A T intron_variant LIRI-JP 6 52946098 52946098 single base substitution C T downstream_gene_variant LIRI-JP 6 52946098 52946098 single base substitution C T intron_variant LIRI-JP 6 52946980 52946980 single base substitution A G downstream_gene_variant LIRI-JP 6 52946980 52946980 single base substitution A G intron_variant LIRI-JP 6 52948515 52948515 single base substitution G T downstream_gene_variant LIRI-JP 6 52948515 52948515 single base substitution G T intron_variant LIRI-JP 6 52950608 52950608 single base substitution G A downstream_gene_variant LIRI-JP 6 52950608 52950608 single base substitution G A intron_variant LIRI-JP 6 52952434 52952434 single base substitution G A intron_variant LIRI-JP 6 52952434 52952434 single base substitution G A upstream_gene_variant LIRI-JP 6 52953554 52953554 single base substitution C T intron_variant LIRI-JP 6 52953554 52953554 single base substitution C T upstream_gene_variant LIRI-JP 6 52953572 52953572 single base substitution A G intron_variant LIRI-JP 6 52953572 52953572 single base substitution A G upstream_gene_variant LIRI-JP 6 52954349 52954349 single base substitution A C intron_variant LIRI-JP 6 52954349 52954349 single base substitution A C upstream_gene_variant LIRI-JP 6 52954501 52954501 single base substitution G T intron_variant LIRI-JP 6 52954501 52954501 single base substitution G T upstream_gene_variant LIRI-JP 6 52954989 52954989 single base substitution A G intron_variant LIRI-JP 6 52954989 52954989 single base substitution A G upstream_gene_variant LIRI-JP 6 52955229 52955229 single base substitution C A intron_variant LIRI-JP 6 52955229 52955229 single base substitution C A upstream_gene_variant LIRI-JP 6 52957134 52957134 single base substitution A G exon_variant LIRI-JP 6 52957134 52957134 single base substitution A G intron_variant LIRI-JP 6 52957134 52957134 single base substitution A G upstream_gene_variant LIRI-JP 6 52957904 52957904 single base substitution A G downstream_gene_variant LIRI-JP 6 52957904 52957904 single base substitution A G exon_variant LIRI-JP 6 52957904 52957904 single base substitution A G intron_variant LIRI-JP 6 52957904 52957904 single base substitution A G upstream_gene_variant LIRI-JP 6 52960743 52960743 single base substitution A T downstream_gene_variant LIRI-JP 6 52960743 52960743 single base substitution A T intron_variant LIRI-JP 6 52961283 52961283 single base substitution C T downstream_gene_variant LIRI-JP 6 52961283 52961283 single base substitution C T intron_variant LIRI-JP 6 52962009 52962009 single base substitution A G downstream_gene_variant LIRI-JP 6 52962009 52962009 single base substitution A G intron_variant LIRI-JP 6 52964725 52964725 single base substitution A G 3_prime_UTR_variant LIRI-JP 6 52964725 52964725 single base substitution A G downstream_gene_variant LIRI-JP 6 52968485 52968485 single base substitution C A downstream_gene_variant LUSC-KR 6 52918954 52918954 single base substitution C G intron_variant LUSC-KR 6 52918954 52918954 single base substitution C G upstream_gene_variant LUSC-KR 6 52922352 52922352 single base substitution T C intron_variant LUSC-KR 6 52924818 52924818 single base substitution C T intron_variant LUSC-KR 6 52924818 52924818 single base substitution C T upstream_gene_variant LUSC-KR 6 52929518 52929518 single base substitution G C intron_variant LUSC-KR 6 52929518 52929518 single base substitution G C upstream_gene_variant LUSC-KR 6 52930119 52930119 single base substitution G C intron_variant LUSC-KR 6 52930119 52930119 single base substitution G C upstream_gene_variant LUSC-KR 6 52930394 52930394 single base substitution G T 5_prime_UTR_variant LUSC-KR 6 52930394 52930394 single base substitution G T exon_variant LUSC-KR 6 52930394 52930394 single base substitution G T intron_variant LUSC-KR 6 52930394 52930394 single base substitution G T upstream_gene_variant LUSC-KR 6 52934498 52934498 single base substitution G T downstream_gene_variant LUSC-KR 6 52934498 52934498 single base substitution G T intron_variant LUSC-KR 6 52934498 52934498 single base substitution G T upstream_gene_variant LUSC-KR 6 52934839 52934839 single base substitution A T downstream_gene_variant LUSC-KR 6 52934839 52934839 single base substitution A T intron_variant LUSC-KR 6 52934839 52934839 single base substitution A T upstream_gene_variant LUSC-KR 6 52936380 52936380 single base substitution G A downstream_gene_variant LUSC-KR 6 52936380 52936380 single base substitution G A intron_variant LUSC-KR 6 52936380 52936380 single base substitution G A upstream_gene_variant LUSC-KR 6 52939459 52939459 single base substitution C T downstream_gene_variant LUSC-KR 6 52939459 52939459 single base substitution C T intron_variant LUSC-KR 6 52939459 52939459 single base substitution C T upstream_gene_variant LUSC-KR 6 52944361 52944361 single base substitution G T intron_variant LUSC-KR 6 52946261 52946261 single base substitution G A downstream_gene_variant LUSC-KR 6 52946261 52946261 single base substitution G A intron_variant LUSC-KR 6 52949839 52949839 single base substitution C G downstream_gene_variant LUSC-KR 6 52949839 52949839 single base substitution C G intron_variant LUSC-KR 6 52960324 52960324 single base substitution A G downstream_gene_variant LUSC-KR 6 52960324 52960324 single base substitution A G exon_variant LUSC-KR 6 52960324 52960324 single base substitution A G missense_variant Y114C 341A>G LUSC-KR 6 52960324 52960324 single base substitution A G missense_variant Y322C 965A>G LUSC-KR 6 52960324 52960324 single base substitution A G missense_variant Y356C 1067A>G LUSC-KR 6 52960324 52960324 single base substitution A G missense_variant Y366C 1097A>G LUSC-KR 6 52960324 52960324 single base substitution A G missense_variant Y73C 218A>G LUSC-KR 6 52962703 52962703 single base substitution T C 3_prime_UTR_variant LUSC-KR 6 52962703 52962703 single base substitution T C downstream_gene_variant LUSC-KR 6 52962703 52962703 single base substitution T C intron_variant LUSC-KR 6 52969335 52969335 single base substitution T A downstream_gene_variant LUSC-US 6 52945894 52945894 single base substitution C T downstream_gene_variant LUSC-US 6 52945894 52945894 single base substitution C T missense_variant S145L 434C>T LUSC-US 6 52945894 52945894 single base substitution C T missense_variant S179L 536C>T LUSC-US 6 52945894 52945894 single base substitution C T missense_variant S189L 566C>T LUSC-US 6 52945894 52945894 single base substitution C T splice_region_variant MALY-DE 6 52912335 52912335 single base substitution T G upstream_gene_variant MALY-DE 6 52913387 52913387 single base substitution A C upstream_gene_variant MALY-DE 6 52913458 52913458 single base substitution T C upstream_gene_variant MALY-DE 6 52935670 52935670 single base substitution T G 5_prime_UTR_variant MALY-DE 6 52935670 52935670 single base substitution T G downstream_gene_variant MALY-DE 6 52935670 52935670 single base substitution T G intron_variant MALY-DE 6 52935670 52935670 single base substitution T G upstream_gene_variant MELA-AU 6 52912012 52912012 single base substitution G A upstream_gene_variant MELA-AU 6 52912528 52912528 single base substitution A G upstream_gene_variant MELA-AU 6 52913470 52913470 single base substitution G A upstream_gene_variant MELA-AU 6 52914025 52914025 single base substitution A G upstream_gene_variant MELA-AU 6 52914912 52914912 single base substitution G A upstream_gene_variant MELA-AU 6 52915634 52915634 single base substitution A T upstream_gene_variant MELA-AU 6 52915844 52915844 single base substitution G A upstream_gene_variant MELA-AU 6 52915900 52915900 single base substitution G A upstream_gene_variant MELA-AU 6 52916374 52916374 single base substitution C A upstream_gene_variant MELA-AU 6 52916580 52916580 single base substitution A G upstream_gene_variant MELA-AU 6 52916825 52916825 single base substitution C T 5_prime_UTR_variant MELA-AU 6 52916825 52916825 single base substitution C T upstream_gene_variant MELA-AU 6 52917249 52917249 single base substitution G A intron_variant MELA-AU 6 52917249 52917249 single base substitution G A upstream_gene_variant MELA-AU 6 52917584 52917584 single base substitution G A intron_variant MELA-AU 6 52917584 52917584 single base substitution G A upstream_gene_variant MELA-AU 6 52918327 52918327 single base substitution G A intron_variant MELA-AU 6 52918327 52918327 single base substitution G A upstream_gene_variant MELA-AU 6 52919204 52919204 single base substitution G A intron_variant MELA-AU 6 52919204 52919204 single base substitution G A upstream_gene_variant MELA-AU 6 52919595 52919595 single base substitution G A intron_variant MELA-AU 6 52920315 52920315 single base substitution G A intron_variant MELA-AU 6 52920641 52920641 single base substitution G A intron_variant MELA-AU 6 52923115 52923115 single base substitution G A intron_variant MELA-AU 6 52923254 52923254 single base substitution G A intron_variant MELA-AU 6 52923448 52923448 single base substitution C T intron_variant MELA-AU 6 52924907 52924907 single base substitution G A intron_variant MELA-AU 6 52924907 52924907 single base substitution G A upstream_gene_variant MELA-AU 6 52925913 52925913 single base substitution A C intron_variant MELA-AU 6 52925913 52925913 single base substitution A C upstream_gene_variant MELA-AU 6 52926664 52926664 single base substitution C T intron_variant MELA-AU 6 52926664 52926664 single base substitution C T upstream_gene_variant MELA-AU 6 52926669 52926669 single base substitution G A intron_variant MELA-AU 6 52926669 52926669 single base substitution G A upstream_gene_variant MELA-AU 6 52926689 52926689 single base substitution C T intron_variant MELA-AU 6 52926689 52926689 single base substitution C T upstream_gene_variant MELA-AU 6 52926690 52926690 single base substitution C T intron_variant MELA-AU 6 52926690 52926690 single base substitution C T upstream_gene_variant MELA-AU 6 52927583 52927583 single base substitution C T intron_variant MELA-AU 6 52927583 52927583 single base substitution C T upstream_gene_variant MELA-AU 6 52927857 52927857 single base substitution T A intron_variant MELA-AU 6 52927857 52927857 single base substitution T A upstream_gene_variant MELA-AU 6 52928984 52928984 single base substitution C T intron_variant MELA-AU 6 52928984 52928984 single base substitution C T upstream_gene_variant MELA-AU 6 52929298 52929298 single base substitution G A intron_variant MELA-AU 6 52929298 52929298 single base substitution G A upstream_gene_variant MELA-AU 6 52929606 52929606 single base substitution C T intron_variant MELA-AU 6 52929606 52929606 single base substitution C T upstream_gene_variant MELA-AU 6 52929637 52929637 single base substitution A G intron_variant MELA-AU 6 52929637 52929637 single base substitution A G upstream_gene_variant MELA-AU 6 52929692 52929692 single base substitution G A intron_variant MELA-AU 6 52929692 52929692 single base substitution G A upstream_gene_variant MELA-AU 6 52929734 52929734 single base substitution G A intron_variant MELA-AU 6 52929734 52929734 single base substitution G A upstream_gene_variant MELA-AU 6 52931349 52931349 single base substitution C T intron_variant MELA-AU 6 52931349 52931349 single base substitution C T upstream_gene_variant MELA-AU 6 52932177 52932178 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 52932177 52932178 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 6 52932668 52932668 single base substitution C T intron_variant MELA-AU 6 52932668 52932668 single base substitution C T upstream_gene_variant MELA-AU 6 52933012 52933012 single base substitution C T downstream_gene_variant MELA-AU 6 52933012 52933012 single base substitution C T intron_variant MELA-AU 6 52933012 52933012 single base substitution C T upstream_gene_variant MELA-AU 6 52935117 52935117 single base substitution C T downstream_gene_variant MELA-AU 6 52935117 52935117 single base substitution C T intron_variant MELA-AU 6 52935117 52935117 single base substitution C T upstream_gene_variant MELA-AU 6 52935214 52935214 single base substitution C T downstream_gene_variant MELA-AU 6 52935214 52935214 single base substitution C T intron_variant MELA-AU 6 52935214 52935214 single base substitution C T upstream_gene_variant MELA-AU 6 52937012 52937012 deletion of <=200bp T - downstream_gene_variant MELA-AU 6 52937012 52937012 deletion of <=200bp T - intron_variant MELA-AU 6 52937012 52937012 deletion of <=200bp T - upstream_gene_variant MELA-AU 6 52937347 52937347 single base substitution G T downstream_gene_variant MELA-AU 6 52937347 52937347 single base substitution G T intron_variant MELA-AU 6 52937347 52937347 single base substitution G T upstream_gene_variant MELA-AU 6 52938789 52938789 single base substitution T G downstream_gene_variant MELA-AU 6 52938789 52938789 single base substitution T G intron_variant MELA-AU 6 52938789 52938789 single base substitution T G upstream_gene_variant MELA-AU 6 52939596 52939596 single base substitution C T downstream_gene_variant MELA-AU 6 52939596 52939596 single base substitution C T intron_variant MELA-AU 6 52939596 52939596 single base substitution C T upstream_gene_variant MELA-AU 6 52939729 52939729 single base substitution C T downstream_gene_variant MELA-AU 6 52939729 52939729 single base substitution C T intron_variant MELA-AU 6 52939729 52939729 single base substitution C T upstream_gene_variant MELA-AU 6 52940275 52940275 single base substitution C T downstream_gene_variant MELA-AU 6 52940275 52940275 single base substitution C T intron_variant MELA-AU 6 52940275 52940275 single base substitution C T upstream_gene_variant MELA-AU 6 52940880 52940880 single base substitution T C downstream_gene_variant MELA-AU 6 52940880 52940880 single base substitution T C intron_variant MELA-AU 6 52940880 52940880 single base substitution T C upstream_gene_variant MELA-AU 6 52941072 52941072 single base substitution C T downstream_gene_variant MELA-AU 6 52941072 52941072 single base substitution C T intron_variant MELA-AU 6 52941072 52941072 single base substitution C T upstream_gene_variant MELA-AU 6 52941231 52941231 single base substitution C T downstream_gene_variant MELA-AU 6 52941231 52941231 single base substitution C T intron_variant MELA-AU 6 52941231 52941231 single base substitution C T upstream_gene_variant MELA-AU 6 52941407 52941407 single base substitution T C downstream_gene_variant MELA-AU 6 52941407 52941407 single base substitution T C intron_variant MELA-AU 6 52941407 52941407 single base substitution T C upstream_gene_variant MELA-AU 6 52941488 52941488 single base substitution C T downstream_gene_variant MELA-AU 6 52941488 52941488 single base substitution C T intron_variant MELA-AU 6 52941488 52941488 single base substitution C T upstream_gene_variant MELA-AU 6 52942613 52942613 single base substitution C A downstream_gene_variant MELA-AU 6 52942613 52942613 single base substitution C A intron_variant MELA-AU 6 52942613 52942613 single base substitution C A upstream_gene_variant MELA-AU 6 52944780 52944780 single base substitution C T intron_variant MELA-AU 6 52946032 52946032 single base substitution C T downstream_gene_variant MELA-AU 6 52946032 52946032 single base substitution C T intron_variant MELA-AU 6 52946138 52946138 single base substitution C T downstream_gene_variant MELA-AU 6 52946138 52946138 single base substitution C T intron_variant MELA-AU 6 52946730 52946730 single base substitution C T downstream_gene_variant MELA-AU 6 52946730 52946730 single base substitution C T intron_variant MELA-AU 6 52947044 52947044 single base substitution G C downstream_gene_variant MELA-AU 6 52947044 52947044 single base substitution G C intron_variant MELA-AU 6 52947971 52947971 single base substitution A G downstream_gene_variant MELA-AU 6 52947971 52947971 single base substitution A G intron_variant MELA-AU 6 52948064 52948064 single base substitution C T downstream_gene_variant MELA-AU 6 52948064 52948064 single base substitution C T intron_variant MELA-AU 6 52948103 52948103 single base substitution C T downstream_gene_variant MELA-AU 6 52948103 52948103 single base substitution C T intron_variant MELA-AU 6 52948609 52948609 single base substitution C T downstream_gene_variant MELA-AU 6 52948609 52948609 single base substitution C T intron_variant MELA-AU 6 52948612 52948612 single base substitution C T downstream_gene_variant MELA-AU 6 52948612 52948612 single base substitution C T intron_variant MELA-AU 6 52948810 52948810 single base substitution T G downstream_gene_variant MELA-AU 6 52948810 52948810 single base substitution T G intron_variant MELA-AU 6 52948852 52948852 single base substitution C T downstream_gene_variant MELA-AU 6 52948852 52948852 single base substitution C T intron_variant MELA-AU 6 52948860 52948860 single base substitution T G downstream_gene_variant MELA-AU 6 52948860 52948860 single base substitution T G intron_variant MELA-AU 6 52949836 52949836 single base substitution C T downstream_gene_variant MELA-AU 6 52949836 52949836 single base substitution C T intron_variant MELA-AU 6 52950745 52950745 single base substitution C T downstream_gene_variant MELA-AU 6 52950745 52950745 single base substitution C T intron_variant MELA-AU 6 52950745 52950745 single base substitution C T upstream_gene_variant MELA-AU 6 52950888 52950888 single base substitution G T downstream_gene_variant MELA-AU 6 52950888 52950888 single base substitution G T intron_variant MELA-AU 6 52950888 52950888 single base substitution G T upstream_gene_variant MELA-AU 6 52951927 52951927 single base substitution C T intron_variant MELA-AU 6 52951927 52951927 single base substitution C T upstream_gene_variant MELA-AU 6 52953007 52953007 single base substitution C T intron_variant MELA-AU 6 52953007 52953007 single base substitution C T upstream_gene_variant MELA-AU 6 52953761 52953761 single base substitution C T intron_variant MELA-AU 6 52953761 52953761 single base substitution C T upstream_gene_variant MELA-AU 6 52953878 52953878 single base substitution T G intron_variant MELA-AU 6 52953878 52953878 single base substitution T G upstream_gene_variant MELA-AU 6 52953906 52953906 single base substitution C T intron_variant MELA-AU 6 52953906 52953906 single base substitution C T upstream_gene_variant MELA-AU 6 52953996 52953996 single base substitution C T intron_variant MELA-AU 6 52953996 52953996 single base substitution C T upstream_gene_variant MELA-AU 6 52954681 52954681 single base substitution C T intron_variant MELA-AU 6 52954681 52954681 single base substitution C T upstream_gene_variant MELA-AU 6 52954740 52954740 single base substitution A G intron_variant MELA-AU 6 52954740 52954740 single base substitution A G upstream_gene_variant MELA-AU 6 52954968 52954968 single base substitution C T intron_variant MELA-AU 6 52954968 52954968 single base substitution C T upstream_gene_variant MELA-AU 6 52955141 52955141 single base substitution C T intron_variant MELA-AU 6 52955141 52955141 single base substitution C T upstream_gene_variant MELA-AU 6 52955271 52955271 single base substitution C T intron_variant MELA-AU 6 52955271 52955271 single base substitution C T upstream_gene_variant MELA-AU 6 52955799 52955799 single base substitution C T exon_variant MELA-AU 6 52955799 52955799 single base substitution C T intron_variant MELA-AU 6 52955799 52955799 single base substitution C T upstream_gene_variant MELA-AU 6 52955908 52955908 single base substitution G A exon_variant MELA-AU 6 52955908 52955908 single base substitution G A intron_variant MELA-AU 6 52955908 52955908 single base substitution G A upstream_gene_variant MELA-AU 6 52956197 52956197 single base substitution C T exon_variant MELA-AU 6 52956197 52956197 single base substitution C T intron_variant MELA-AU 6 52956197 52956197 single base substitution C T upstream_gene_variant MELA-AU 6 52956503 52956503 single base substitution C T exon_variant MELA-AU 6 52956503 52956503 single base substitution C T intron_variant MELA-AU 6 52956503 52956503 single base substitution C T upstream_gene_variant MELA-AU 6 52957078 52957078 single base substitution C T exon_variant MELA-AU 6 52957078 52957078 single base substitution C T intron_variant MELA-AU 6 52957078 52957078 single base substitution C T upstream_gene_variant MELA-AU 6 52957115 52957116 multiple base substitution (>=2bp and <=200bp) CC GT exon_variant MELA-AU 6 52957115 52957116 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 6 52957115 52957116 multiple base substitution (>=2bp and <=200bp) CC GT upstream_gene_variant MELA-AU 6 52957304 52957304 single base substitution G A exon_variant MELA-AU 6 52957304 52957304 single base substitution G A stop_gained W210* 629G>A MELA-AU 6 52957304 52957304 single base substitution G A stop_gained W244* 731G>A MELA-AU 6 52957304 52957304 single base substitution G A stop_gained W254* 761G>A MELA-AU 6 52957304 52957304 single base substitution G A upstream_gene_variant MELA-AU 6 52957590 52957590 single base substitution C T downstream_gene_variant MELA-AU 6 52957590 52957590 single base substitution C T exon_variant MELA-AU 6 52957590 52957590 single base substitution C T synonymous_variant F243F 729C>T MELA-AU 6 52957590 52957590 single base substitution C T synonymous_variant F277F 831C>T MELA-AU 6 52957590 52957590 single base substitution C T synonymous_variant F287F 861C>T MELA-AU 6 52957590 52957590 single base substitution C T upstream_gene_variant MELA-AU 6 52957666 52957666 single base substitution C T downstream_gene_variant MELA-AU 6 52957666 52957666 single base substitution C T exon_variant MELA-AU 6 52957666 52957666 single base substitution C T intron_variant MELA-AU 6 52957666 52957666 single base substitution C T upstream_gene_variant MELA-AU 6 52957810 52957810 single base substitution C T downstream_gene_variant MELA-AU 6 52957810 52957810 single base substitution C T exon_variant MELA-AU 6 52957810 52957810 single base substitution C T intron_variant MELA-AU 6 52957810 52957810 single base substitution C T upstream_gene_variant MELA-AU 6 52958054 52958055 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 6 52958054 52958055 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 6 52958054 52958055 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 52958054 52958055 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 6 52958205 52958205 single base substitution G C downstream_gene_variant MELA-AU 6 52958205 52958205 single base substitution G C exon_variant MELA-AU 6 52958205 52958205 single base substitution G C intron_variant MELA-AU 6 52958205 52958205 single base substitution G C upstream_gene_variant MELA-AU 6 52958247 52958247 single base substitution C T downstream_gene_variant MELA-AU 6 52958247 52958247 single base substitution C T exon_variant MELA-AU 6 52958247 52958247 single base substitution C T intron_variant MELA-AU 6 52958247 52958247 single base substitution C T upstream_gene_variant MELA-AU 6 52958309 52958309 single base substitution C T downstream_gene_variant MELA-AU 6 52958309 52958309 single base substitution C T exon_variant MELA-AU 6 52958309 52958309 single base substitution C T synonymous_variant T11T 33C>T MELA-AU 6 52958309 52958309 single base substitution C T synonymous_variant T20T 60C>T MELA-AU 6 52958309 52958309 single base substitution C T synonymous_variant T269T 807C>T MELA-AU 6 52958309 52958309 single base substitution C T synonymous_variant T303T 909C>T MELA-AU 6 52958309 52958309 single base substitution C T synonymous_variant T313T 939C>T MELA-AU 6 52958508 52958508 single base substitution G A downstream_gene_variant MELA-AU 6 52958508 52958508 single base substitution G A intron_variant MELA-AU 6 52958729 52958729 single base substitution G A downstream_gene_variant MELA-AU 6 52958729 52958729 single base substitution G A exon_variant MELA-AU 6 52958729 52958729 single base substitution G A missense_variant D302N 904G>A MELA-AU 6 52958729 52958729 single base substitution G A missense_variant D336N 1006G>A MELA-AU 6 52958729 52958729 single base substitution G A missense_variant D346N 1036G>A MELA-AU 6 52958729 52958729 single base substitution G A missense_variant D44N 130G>A MELA-AU 6 52958729 52958729 single base substitution G A missense_variant D53N 157G>A MELA-AU 6 52958836 52958836 single base substitution G T downstream_gene_variant MELA-AU 6 52958836 52958836 single base substitution G T intron_variant MELA-AU 6 52958870 52958870 single base substitution C T downstream_gene_variant MELA-AU 6 52958870 52958870 single base substitution C T intron_variant MELA-AU 6 52959100 52959100 single base substitution T A downstream_gene_variant MELA-AU 6 52959100 52959100 single base substitution T A intron_variant MELA-AU 6 52959106 52959106 single base substitution T A downstream_gene_variant MELA-AU 6 52959106 52959106 single base substitution T A intron_variant MELA-AU 6 52959166 52959167 multiple base substitution (>=2bp and <=200bp) CT TC downstream_gene_variant MELA-AU 6 52959166 52959167 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 6 52959705 52959705 single base substitution C T downstream_gene_variant MELA-AU 6 52959705 52959705 single base substitution C T intron_variant MELA-AU 6 52959870 52959870 single base substitution T C downstream_gene_variant MELA-AU 6 52959870 52959870 single base substitution T C intron_variant MELA-AU 6 52960126 52960126 single base substitution A T downstream_gene_variant MELA-AU 6 52960126 52960126 single base substitution A T intron_variant MELA-AU 6 52960344 52960344 single base substitution C A downstream_gene_variant MELA-AU 6 52960344 52960344 single base substitution C A exon_variant MELA-AU 6 52960344 52960344 single base substitution C A missense_variant R121S 361C>A MELA-AU 6 52960344 52960344 single base substitution C A missense_variant R329S 985C>A MELA-AU 6 52960344 52960344 single base substitution C A missense_variant R363S 1087C>A MELA-AU 6 52960344 52960344 single base substitution C A missense_variant R373S 1117C>A MELA-AU 6 52960344 52960344 single base substitution C A missense_variant R80S 238C>A MELA-AU 6 52960466 52960466 single base substitution G A downstream_gene_variant MELA-AU 6 52960466 52960466 single base substitution G A splice_region_variant MELA-AU 6 52960731 52960731 single base substitution T C downstream_gene_variant MELA-AU 6 52960731 52960731 single base substitution T C intron_variant MELA-AU 6 52961903 52961903 single base substitution C T downstream_gene_variant MELA-AU 6 52961903 52961903 single base substitution C T intron_variant MELA-AU 6 52962098 52962098 single base substitution A G downstream_gene_variant MELA-AU 6 52962098 52962098 single base substitution A G intron_variant MELA-AU 6 52962282 52962282 single base substitution C T downstream_gene_variant MELA-AU 6 52962282 52962282 single base substitution C T intron_variant MELA-AU 6 52962412 52962412 single base substitution T A downstream_gene_variant MELA-AU 6 52962412 52962412 single base substitution T A intron_variant MELA-AU 6 52962516 52962516 single base substitution A T downstream_gene_variant MELA-AU 6 52962516 52962516 single base substitution A T intron_variant MELA-AU 6 52962516 52962516 single base substitution A T splice_region_variant MELA-AU 6 52962600 52962600 single base substitution A G downstream_gene_variant MELA-AU 6 52962600 52962600 single base substitution A G exon_variant MELA-AU 6 52962600 52962600 single base substitution A G intron_variant MELA-AU 6 52962600 52962600 single base substitution A G missense_variant Y187C 560A>G MELA-AU 6 52962600 52962600 single base substitution A G missense_variant Y395C 1184A>G MELA-AU 6 52962600 52962600 single base substitution A G missense_variant Y429C 1286A>G MELA-AU 6 52962600 52962600 single base substitution A G missense_variant Y439C 1316A>G MELA-AU 6 52962679 52962679 single base substitution G A 3_prime_UTR_variant MELA-AU 6 52962679 52962679 single base substitution G A downstream_gene_variant MELA-AU 6 52962679 52962679 single base substitution G A exon_variant MELA-AU 6 52962679 52962679 single base substitution G A intron_variant MELA-AU 6 52963091 52963091 single base substitution C T 3_prime_UTR_variant MELA-AU 6 52963091 52963091 single base substitution C T downstream_gene_variant MELA-AU 6 52963105 52963105 single base substitution C T 3_prime_UTR_variant MELA-AU 6 52963105 52963105 single base substitution C T downstream_gene_variant MELA-AU 6 52963575 52963575 single base substitution C T 3_prime_UTR_variant MELA-AU 6 52963575 52963575 single base substitution C T downstream_gene_variant MELA-AU 6 52964478 52964478 single base substitution T G 3_prime_UTR_variant MELA-AU 6 52964478 52964478 single base substitution T G downstream_gene_variant MELA-AU 6 52964729 52964729 single base substitution C T 3_prime_UTR_variant MELA-AU 6 52964729 52964729 single base substitution C T downstream_gene_variant MELA-AU 6 52965429 52965429 single base substitution C T 3_prime_UTR_variant MELA-AU 6 52965429 52965429 single base substitution C T downstream_gene_variant MELA-AU 6 52966982 52966982 single base substitution C T downstream_gene_variant MELA-AU 6 52967264 52967264 single base substitution C T downstream_gene_variant MELA-AU 6 52967400 52967400 single base substitution C G downstream_gene_variant MELA-AU 6 52967410 52967410 single base substitution C T downstream_gene_variant MELA-AU 6 52967706 52967706 single base substitution G A downstream_gene_variant MELA-AU 6 52968035 52968035 single base substitution C T downstream_gene_variant MELA-AU 6 52968733 52968733 single base substitution A G downstream_gene_variant MELA-AU 6 52968997 52968997 single base substitution C T downstream_gene_variant MELA-AU 6 52969150 52969150 single base substitution C T downstream_gene_variant MELA-AU 6 52970469 52970469 single base substitution C T downstream_gene_variant MELA-AU 6 52970475 52970475 single base substitution G A downstream_gene_variant MELA-AU 6 52970630 52970630 single base substitution C T downstream_gene_variant ORCA-IN 6 52919891 52919891 single base substitution G A intron_variant ORCA-IN 6 52920459 52920459 single base substitution C T intron_variant ORCA-IN 6 52933450 52933450 single base substitution G A downstream_gene_variant ORCA-IN 6 52933450 52933450 single base substitution G A intron_variant ORCA-IN 6 52933450 52933450 single base substitution G A upstream_gene_variant ORCA-IN 6 52939694 52939694 single base substitution A G downstream_gene_variant ORCA-IN 6 52939694 52939694 single base substitution A G intron_variant ORCA-IN 6 52939694 52939694 single base substitution A G upstream_gene_variant ORCA-IN 6 52953026 52953026 single base substitution A G intron_variant ORCA-IN 6 52953026 52953026 single base substitution A G upstream_gene_variant OV-AU 6 52919718 52919718 single base substitution A G intron_variant OV-AU 6 52922015 52922015 single base substitution A G intron_variant OV-AU 6 52922302 52922302 single base substitution A C intron_variant OV-AU 6 52927386 52927386 single base substitution C A intron_variant OV-AU 6 52927386 52927386 single base substitution C A upstream_gene_variant OV-AU 6 52928960 52928960 single base substitution C A intron_variant OV-AU 6 52928960 52928960 single base substitution C A upstream_gene_variant OV-AU 6 52934180 52934180 single base substitution G C downstream_gene_variant OV-AU 6 52934180 52934180 single base substitution G C intron_variant OV-AU 6 52934180 52934180 single base substitution G C upstream_gene_variant OV-AU 6 52937589 52937589 single base substitution C G downstream_gene_variant OV-AU 6 52937589 52937589 single base substitution C G intron_variant OV-AU 6 52937589 52937589 single base substitution C G upstream_gene_variant OV-AU 6 52940438 52940438 single base substitution C G downstream_gene_variant OV-AU 6 52940438 52940438 single base substitution C G intron_variant OV-AU 6 52940438 52940438 single base substitution C G upstream_gene_variant OV-AU 6 52946727 52946727 single base substitution C T downstream_gene_variant OV-AU 6 52946727 52946727 single base substitution C T intron_variant OV-AU 6 52947985 52947985 single base substitution A G downstream_gene_variant OV-AU 6 52947985 52947985 single base substitution A G intron_variant OV-AU 6 52953201 52953201 single base substitution A C intron_variant OV-AU 6 52953201 52953201 single base substitution A C upstream_gene_variant OV-AU 6 52953695 52953695 single base substitution G A intron_variant OV-AU 6 52953695 52953695 single base substitution G A upstream_gene_variant OV-AU 6 52956769 52956769 single base substitution G A exon_variant OV-AU 6 52956769 52956769 single base substitution G A intron_variant OV-AU 6 52956769 52956769 single base substitution G A upstream_gene_variant OV-AU 6 52959340 52959340 single base substitution G T downstream_gene_variant OV-AU 6 52959340 52959340 single base substitution G T intron_variant PACA-AU 6 52915015 52915015 single base substitution G T upstream_gene_variant PACA-AU 6 52915989 52915999 deletion of <=200bp CTAAACTACAG - upstream_gene_variant PACA-AU 6 52917385 52917385 single base substitution C T intron_variant PACA-AU 6 52917385 52917385 single base substitution C T upstream_gene_variant PACA-AU 6 52930902 52930902 single base substitution T G 5_prime_UTR_variant PACA-AU 6 52930902 52930902 single base substitution T G intron_variant PACA-AU 6 52930902 52930902 single base substitution T G upstream_gene_variant PACA-AU 6 52932748 52932748 single base substitution G C 5_prime_UTR_variant PACA-AU 6 52932748 52932748 single base substitution G C exon_variant PACA-AU 6 52932748 52932748 single base substitution G C intron_variant PACA-AU 6 52932748 52932748 single base substitution G C upstream_gene_variant PACA-AU 6 52933060 52933060 single base substitution C T downstream_gene_variant PACA-AU 6 52933060 52933060 single base substitution C T intron_variant PACA-AU 6 52933060 52933060 single base substitution C T upstream_gene_variant PACA-AU 6 52933455 52933455 single base substitution T G downstream_gene_variant PACA-AU 6 52933455 52933455 single base substitution T G intron_variant PACA-AU 6 52933455 52933455 single base substitution T G upstream_gene_variant PACA-AU 6 52938379 52938379 single base substitution C T exon_variant PACA-AU 6 52938379 52938379 single base substitution C T missense_variant S30F 89C>T PACA-AU 6 52938379 52938379 single base substitution C T missense_variant S64F 191C>T PACA-AU 6 52938379 52938379 single base substitution C T missense_variant S74F 221C>T PACA-AU 6 52938379 52938379 single base substitution C T upstream_gene_variant PACA-AU 6 52938887 52938887 single base substitution A T downstream_gene_variant PACA-AU 6 52938887 52938887 single base substitution A T intron_variant PACA-AU 6 52938887 52938887 single base substitution A T upstream_gene_variant PACA-AU 6 52953895 52953895 single base substitution G A intron_variant PACA-AU 6 52953895 52953895 single base substitution G A upstream_gene_variant PACA-AU 6 52954937 52954937 single base substitution A G intron_variant PACA-AU 6 52954937 52954937 single base substitution A G upstream_gene_variant PACA-AU 6 52955221 52955221 single base substitution G A intron_variant PACA-AU 6 52955221 52955221 single base substitution G A upstream_gene_variant PACA-AU 6 52956031 52956031 single base substitution C T exon_variant PACA-AU 6 52956031 52956031 single base substitution C T intron_variant PACA-AU 6 52956031 52956031 single base substitution C T upstream_gene_variant PACA-AU 6 52962089 52962089 single base substitution C A downstream_gene_variant PACA-AU 6 52962089 52962089 single base substitution C A intron_variant PACA-AU 6 52963364 52963364 single base substitution G A 3_prime_UTR_variant PACA-AU 6 52963364 52963364 single base substitution G A downstream_gene_variant PACA-CA 6 52912712 52912712 single base substitution G A upstream_gene_variant PACA-CA 6 52925191 52925191 single base substitution T C intron_variant PACA-CA 6 52925191 52925191 single base substitution T C upstream_gene_variant PACA-CA 6 52927600 52927600 single base substitution C T intron_variant PACA-CA 6 52927600 52927600 single base substitution C T upstream_gene_variant PACA-CA 6 52928205 52928205 single base substitution T C intron_variant PACA-CA 6 52928205 52928205 single base substitution T C upstream_gene_variant PACA-CA 6 52935635 52935635 single base substitution A G downstream_gene_variant PACA-CA 6 52935635 52935635 single base substitution A G intron_variant PACA-CA 6 52935635 52935635 single base substitution A G upstream_gene_variant PACA-CA 6 52945012 52945012 single base substitution G T intron_variant PACA-CA 6 52947248 52947248 single base substitution G T downstream_gene_variant PACA-CA 6 52947248 52947248 single base substitution G T intron_variant PACA-CA 6 52947598 52947598 single base substitution C T downstream_gene_variant PACA-CA 6 52947598 52947598 single base substitution C T intron_variant PACA-CA 6 52947876 52947876 single base substitution G A downstream_gene_variant PACA-CA 6 52947876 52947876 single base substitution G A intron_variant PACA-CA 6 52950804 52950804 single base substitution G A downstream_gene_variant PACA-CA 6 52950804 52950804 single base substitution G A intron_variant PACA-CA 6 52950804 52950804 single base substitution G A upstream_gene_variant PACA-CA 6 52953513 52953513 single base substitution C T intron_variant PACA-CA 6 52953513 52953513 single base substitution C T upstream_gene_variant PACA-CA 6 52954730 52954730 single base substitution C G intron_variant PACA-CA 6 52954730 52954730 single base substitution C G upstream_gene_variant PACA-CA 6 52955451 52955451 single base substitution A G intron_variant PACA-CA 6 52955451 52955451 single base substitution A G upstream_gene_variant PACA-CA 6 52956473 52956473 single base substitution A G exon_variant PACA-CA 6 52956473 52956473 single base substitution A G intron_variant PACA-CA 6 52956473 52956473 single base substitution A G upstream_gene_variant PACA-CA 6 52956665 52956665 single base substitution T C exon_variant PACA-CA 6 52956665 52956665 single base substitution T C intron_variant PACA-CA 6 52956665 52956665 single base substitution T C upstream_gene_variant PACA-CA 6 52956750 52956750 single base substitution A T exon_variant PACA-CA 6 52956750 52956750 single base substitution A T intron_variant PACA-CA 6 52956750 52956750 single base substitution A T upstream_gene_variant PACA-CA 6 52957446 52957446 single base substitution A C exon_variant PACA-CA 6 52957446 52957446 single base substitution A C intron_variant PACA-CA 6 52957446 52957446 single base substitution A C upstream_gene_variant PACA-CA 6 52965134 52965134 single base substitution G A 3_prime_UTR_variant PACA-CA 6 52965134 52965134 single base substitution G A downstream_gene_variant PACA-CA 6 52965169 52965169 single base substitution G T 3_prime_UTR_variant PACA-CA 6 52965169 52965169 single base substitution G T downstream_gene_variant PAEN-AU 6 52947467 52947467 single base substitution G C downstream_gene_variant PAEN-AU 6 52947467 52947467 single base substitution G C intron_variant PAEN-AU 6 52956981 52956981 single base substitution T C exon_variant PAEN-AU 6 52956981 52956981 single base substitution T C intron_variant PAEN-AU 6 52956981 52956981 single base substitution T C upstream_gene_variant PBCA-DE 6 52947983 52947983 single base substitution T A downstream_gene_variant PBCA-DE 6 52947983 52947983 single base substitution T A intron_variant PBCA-DE 6 52956725 52956725 single base substitution G T exon_variant PBCA-DE 6 52956725 52956725 single base substitution G T intron_variant PBCA-DE 6 52956725 52956725 single base substitution G T upstream_gene_variant PRAD-CA 6 52929770 52929770 single base substitution G A intron_variant PRAD-CA 6 52929770 52929770 single base substitution G A upstream_gene_variant PRAD-UK 6 52916491 52916491 single base substitution T C upstream_gene_variant PRAD-UK 6 52931893 52931893 single base substitution G T intron_variant PRAD-UK 6 52931893 52931893 single base substitution G T upstream_gene_variant PRAD-UK 6 52950690 52950690 single base substitution G C downstream_gene_variant PRAD-UK 6 52950690 52950690 single base substitution G C intron_variant PRAD-UK 6 52950690 52950690 single base substitution G C upstream_gene_variant PRAD-UK 6 52951303 52951303 single base substitution A T intron_variant PRAD-UK 6 52951303 52951303 single base substitution A T upstream_gene_variant PRAD-UK 6 52958410 52958410 single base substitution T A downstream_gene_variant PRAD-UK 6 52958410 52958410 single base substitution T A intron_variant PRAD-UK 6 52967415 52967415 single base substitution G C downstream_gene_variant PRAD-UK 6 52968221 52968221 single base substitution A T downstream_gene_variant RECA-EU 6 52914248 52914248 single base substitution G T upstream_gene_variant RECA-EU 6 52915014 52915014 single base substitution T A upstream_gene_variant RECA-EU 6 52933454 52933454 single base substitution T G downstream_gene_variant RECA-EU 6 52933454 52933454 single base substitution T G intron_variant RECA-EU 6 52933454 52933454 single base substitution T G upstream_gene_variant RECA-EU 6 52936201 52936201 single base substitution A C downstream_gene_variant RECA-EU 6 52936201 52936201 single base substitution A C intron_variant RECA-EU 6 52936201 52936201 single base substitution A C upstream_gene_variant RECA-EU 6 52945040 52945040 single base substitution T C intron_variant RECA-EU 6 52954125 52954125 single base substitution G T intron_variant RECA-EU 6 52954125 52954125 single base substitution G T upstream_gene_variant RECA-EU 6 52956796 52956796 single base substitution C A exon_variant RECA-EU 6 52956796 52956796 single base substitution C A intron_variant RECA-EU 6 52956796 52956796 single base substitution C A upstream_gene_variant RECA-EU 6 52969393 52969393 single base substitution G C downstream_gene_variant RECA-EU 6 52969394 52969394 single base substitution C T downstream_gene_variant SKCA-BR 6 52915653 52915653 single base substitution A C upstream_gene_variant SKCA-BR 6 52920315 52920315 single base substitution G A intron_variant SKCA-BR 6 52920378 52920378 single base substitution C T intron_variant SKCA-BR 6 52920820 52920820 single base substitution G A intron_variant SKCA-BR 6 52926315 52926315 single base substitution T C intron_variant SKCA-BR 6 52926315 52926315 single base substitution T C upstream_gene_variant SKCA-BR 6 52928304 52928304 single base substitution A T intron_variant SKCA-BR 6 52928304 52928304 single base substitution A T upstream_gene_variant SKCA-BR 6 52928306 52928306 single base substitution T C intron_variant SKCA-BR 6 52928306 52928306 single base substitution T C upstream_gene_variant SKCA-BR 6 52929759 52929759 single base substitution C T intron_variant SKCA-BR 6 52929759 52929759 single base substitution C T upstream_gene_variant SKCA-BR 6 52930806 52930806 single base substitution T C intron_variant SKCA-BR 6 52930806 52930806 single base substitution T C upstream_gene_variant SKCA-BR 6 52931954 52931954 single base substitution C T intron_variant SKCA-BR 6 52931954 52931954 single base substitution C T upstream_gene_variant SKCA-BR 6 52933448 52933448 insertion of <=200bp - ATATG downstream_gene_variant SKCA-BR 6 52933448 52933448 insertion of <=200bp - ATATG intron_variant SKCA-BR 6 52933448 52933448 insertion of <=200bp - ATATG upstream_gene_variant SKCA-BR 6 52933454 52933454 single base substitution T G downstream_gene_variant SKCA-BR 6 52933454 52933454 single base substitution T G intron_variant SKCA-BR 6 52933454 52933454 single base substitution T G upstream_gene_variant SKCA-BR 6 52940301 52940301 single base substitution C T downstream_gene_variant SKCA-BR 6 52940301 52940301 single base substitution C T intron_variant SKCA-BR 6 52940301 52940301 single base substitution C T upstream_gene_variant SKCA-BR 6 52940532 52940538 deletion of <=200bp ATTATTT - downstream_gene_variant SKCA-BR 6 52940532 52940538 deletion of <=200bp ATTATTT - intron_variant SKCA-BR 6 52940532 52940538 deletion of <=200bp ATTATTT - upstream_gene_variant SKCA-BR 6 52943210 52943210 single base substitution C T downstream_gene_variant SKCA-BR 6 52943210 52943210 single base substitution C T intron_variant SKCA-BR 6 52943210 52943210 single base substitution C T upstream_gene_variant SKCA-BR 6 52950829 52950829 single base substitution C T downstream_gene_variant SKCA-BR 6 52950829 52950829 single base substitution C T intron_variant SKCA-BR 6 52950829 52950829 single base substitution C T upstream_gene_variant SKCA-BR 6 52962184 52962184 single base substitution G A downstream_gene_variant SKCA-BR 6 52962184 52962184 single base substitution G A intron_variant SKCA-BR 6 52962713 52962715 deletion of <=200bp TGC - 3_prime_UTR_variant SKCA-BR 6 52962713 52962715 deletion of <=200bp TGC - downstream_gene_variant SKCA-BR 6 52962713 52962715 deletion of <=200bp TGC - intron_variant SKCA-BR 6 52962722 52962732 deletion of <=200bp GTGTATATATA - 3_prime_UTR_variant SKCA-BR 6 52962722 52962732 deletion of <=200bp GTGTATATATA - downstream_gene_variant SKCA-BR 6 52962722 52962732 deletion of <=200bp GTGTATATATA - intron_variant SKCA-BR 6 52962724 52962734 deletion of <=200bp GTATATATATA - 3_prime_UTR_variant SKCA-BR 6 52962724 52962734 deletion of <=200bp GTATATATATA - downstream_gene_variant SKCA-BR 6 52962724 52962734 deletion of <=200bp GTATATATATA - intron_variant SKCA-BR 6 52966898 52966898 single base substitution T C downstream_gene_variant SKCA-BR 6 52966902 52966903 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 6 52967175 52967175 single base substitution G A downstream_gene_variant SKCM-US 6 52943611 52943611 single base substitution C T exon_variant SKCM-US 6 52943611 52943611 single base substitution C T missense_variant R108C 322C>T SKCM-US 6 52943611 52943611 single base substitution C T missense_variant R118C 352C>T SKCM-US 6 52943611 52943611 single base substitution C T missense_variant R74C 220C>T SKCM-US 6 52943611 52943611 single base substitution C T upstream_gene_variant SKCM-US 6 52957291 52957291 single base substitution C T exon_variant SKCM-US 6 52957291 52957291 single base substitution C T missense_variant P206S 616C>T SKCM-US 6 52957291 52957291 single base substitution C T missense_variant P240S 718C>T SKCM-US 6 52957291 52957291 single base substitution C T missense_variant P250S 748C>T SKCM-US 6 52957291 52957291 single base substitution C T upstream_gene_variant SKCM-US 6 52960377 52960377 single base substitution C T downstream_gene_variant SKCM-US 6 52960377 52960377 single base substitution C T exon_variant SKCM-US 6 52960377 52960377 single base substitution C T missense_variant H132Y 394C>T SKCM-US 6 52960377 52960377 single base substitution C T missense_variant H340Y 1018C>T SKCM-US 6 52960377 52960377 single base substitution C T missense_variant H374Y 1120C>T SKCM-US 6 52960377 52960377 single base substitution C T missense_variant H384Y 1150C>T SKCM-US 6 52960377 52960377 single base substitution C T missense_variant H91Y 271C>T SKCM-US 6 52962573 52962573 single base substitution C T downstream_gene_variant SKCM-US 6 52962573 52962573 single base substitution C T exon_variant SKCM-US 6 52962573 52962573 single base substitution C T missense_variant P137L 410C>T SKCM-US 6 52962573 52962573 single base substitution C T missense_variant P178L 533C>T SKCM-US 6 52962573 52962573 single base substitution C T missense_variant P386L 1157C>T SKCM-US 6 52962573 52962573 single base substitution C T missense_variant P420L 1259C>T SKCM-US 6 52962573 52962573 single base substitution C T missense_variant P430L 1289C>T STAD-US 6 52957292 52957292 single base substitution C T exon_variant STAD-US 6 52957292 52957292 single base substitution C T missense_variant P206L 617C>T STAD-US 6 52957292 52957292 single base substitution C T missense_variant P240L 719C>T STAD-US 6 52957292 52957292 single base substitution C T missense_variant P250L 749C>T STAD-US 6 52957292 52957292 single base substitution C T upstream_gene_variant STAD-US 6 52957325 52957325 single base substitution G A exon_variant STAD-US 6 52957325 52957325 single base substitution G A missense_variant R217Q 650G>A STAD-US 6 52957325 52957325 single base substitution G A missense_variant R251Q 752G>A STAD-US 6 52957325 52957325 single base substitution G A missense_variant R261Q 782G>A STAD-US 6 52957325 52957325 single base substitution G A upstream_gene_variant STAD-US 6 52960345 52960345 single base substitution G A downstream_gene_variant STAD-US 6 52960345 52960345 single base substitution G A exon_variant STAD-US 6 52960345 52960345 single base substitution G A missense_variant R121H 362G>A STAD-US 6 52960345 52960345 single base substitution G A missense_variant R329H 986G>A STAD-US 6 52960345 52960345 single base substitution G A missense_variant R363H 1088G>A STAD-US 6 52960345 52960345 single base substitution G A missense_variant R373H 1118G>A STAD-US 6 52960345 52960345 single base substitution G A missense_variant R80H 239G>A THCA-SA 6 52962724 52962724 single base substitution G A 3_prime_UTR_variant THCA-SA 6 52962724 52962724 single base substitution G A downstream_gene_variant THCA-SA 6 52962724 52962724 single base substitution G A intron_variant UCEC-US 6 52938287 52938287 single base substitution C A 5_prime_UTR_variant UCEC-US 6 52938287 52938287 single base substitution C A exon_variant UCEC-US 6 52938287 52938287 single base substitution C A synonymous_variant L33L 99C>A UCEC-US 6 52938287 52938287 single base substitution C A synonymous_variant L43L 129C>A UCEC-US 6 52938287 52938287 single base substitution C A upstream_gene_variant UCEC-US 6 52938298 52938298 single base substitution G A exon_variant UCEC-US 6 52938298 52938298 single base substitution G A missense_variant R37Q 110G>A UCEC-US 6 52938298 52938298 single base substitution G A missense_variant R3Q 8G>A UCEC-US 6 52938298 52938298 single base substitution G A missense_variant R47Q 140G>A UCEC-US 6 52938298 52938298 single base substitution G A upstream_gene_variant UCEC-US 6 52945803 52945803 single base substitution C T exon_variant UCEC-US 6 52945803 52945803 single base substitution C T missense_variant L115F 343C>T UCEC-US 6 52945803 52945803 single base substitution C T missense_variant L149F 445C>T UCEC-US 6 52945803 52945803 single base substitution C T missense_variant L159F 475C>T UCEC-US 6 52945854 52945854 single base substitution C A downstream_gene_variant UCEC-US 6 52945854 52945854 single base substitution C A exon_variant UCEC-US 6 52945854 52945854 single base substitution C A missense_variant L132M 394C>A UCEC-US 6 52945854 52945854 single base substitution C A missense_variant L166M 496C>A UCEC-US 6 52945854 52945854 single base substitution C A missense_variant L176M 526C>A UCEC-US 6 52960341 52960341 single base substitution C T downstream_gene_variant UCEC-US 6 52960341 52960341 single base substitution C T exon_variant UCEC-US 6 52960341 52960341 single base substitution C T missense_variant R120C 358C>T UCEC-US 6 52960341 52960341 single base substitution C T missense_variant R328C 982C>T UCEC-US 6 52960341 52960341 single base substitution C T missense_variant R362C 1084C>T UCEC-US 6 52960341 52960341 single base substitution C T missense_variant R372C 1114C>T UCEC-US 6 52960341 52960341 single base substitution C T missense_variant R79C 235C>T UCEC-US 6 52962583 52962583 single base substitution C T downstream_gene_variant UCEC-US 6 52962583 52962583 single base substitution C T exon_variant UCEC-US 6 52962583 52962583 single base substitution C T synonymous_variant F140F 420C>T UCEC-US 6 52962583 52962583 single base substitution C T synonymous_variant F181F 543C>T UCEC-US 6 52962583 52962583 single base substitution C T synonymous_variant F389F 1167C>T UCEC-US 6 52962583 52962583 single base substitution C T synonymous_variant F423F 1269C>T UCEC-US 6 52962583 52962583 single base substitution C T synonymous_variant F433F 1299C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 3N31-VS-3T31 COSM4980690 c.967C>A p.R323S Substitution - Missense 6:53093539-53093539 + T10 COSM5345192 c.985A>G p.T329A Substitution - Missense 6:53093557-53093557 + TCGA-GF-A6C9-06 COSM4901541 c.1150C>T p.H384Y Substitution - Missense 6:53095579-53095579 + TCGA-DC-6158-01 COSM5077041 c.803-10A>G p.? Unknown 6:53092724-53092724 + EGC15 COSM5061870 c.424G>A p.V142I Substitution - Missense 6:53078885-53078885 + TCGA-AG-A002-01 COSM260906 c.1003C>A p.L335I Substitution - Missense 6:53093898-53093898 + TCGA-BC-A10R-01 COSM4935906 c.753C>T p.Y251Y Substitution - coding silent 6:53092498-53092498 + ICGC_0058 COSM218888 c.221C>T p.S74F Substitution - Missense 6:53073581-53073581 + CSCC-16-T COSM4497073 c.489C>T p.F163F Substitution - coding silent 6:53081019-53081019 + C086 COSM4901541 c.1150C>T p.H384Y Substitution - Missense 6:53095579-53095579 + TCGA-61-2611-02 COSM1329626 c.841G>T p.E281* Substitution - Nonsense 6:53092772-53092772 + TCGA-AN-A046-01 COSM1080311 c.1114C>T p.R372C Substitution - Missense 6:53095543-53095543 + 8030232 COSM218888 c.221C>T p.S74F Substitution - Missense 6:53073581-53073581 + TCGA-AP-A059-01 COSM1080303 c.129C>A p.L43L Substitution - coding silent 6:53073489-53073489 + TCGA-66-2759-01 COSM742519 c.566C>T p.S189L Substitution - Missense 6:53081096-53081096 + J33_T COSM3949337 c.1097A>G p.Y366C Substitution - Missense 6:53095526-53095526 + Pa36X COSM84983 c.938C>G p.T313S Substitution - Missense 6:53093510-53093510 + CSCC-16-T COSM4505226 c.687C>T p.D229D Substitution - coding silent 6:53092432-53092432 + TCGA-EE-A29M-06 COSM3628543 c.748C>T p.P250S Substitution - Missense 6:53092493-53092493 + Pat_15_B COSM5870917 c.601C>T p.R201* Substitution - Nonsense 6:53082536-53082536 + sysucc-731T COSM5460242 c.403C>T p.R135W Substitution - Missense 6:53078864-53078864 + sysucc-311T COSM5466887 c.1116T>G p.R372R Substitution - coding silent 6:53095545-53095545 + PT08_1 COSM5893116 c.725G>T p.G242V Substitution - Missense 6:53092470-53092470 + BCM567T COSM4955431 c.345G>T p.K115N Substitution - Missense 6:53078806-53078806 + S0080 COSM5884394 c.839G>T p.G280V Substitution - Missense 6:53092770-53092770 + 56496 COSM1582878 c.805G>A p.V269M Substitution - Missense 6:53092736-53092736 + TCGA-BR-8680-01 COSM3874800 c.1118G>A p.R373H Substitution - Missense 6:53095547-53095547 + TCGA-D1-A17Q-01 COSM1080313 c.1299C>T p.F433F Substitution - coding silent 6:53097785-53097785 + TCGA-FW-A3R5-06 COSM3921969 c.1289C>T p.P430L Substitution - Missense 6:53097775-53097775 + ME009T COSM223099 c.1138G>A p.D380N Substitution - Missense 6:53095567-53095567 + TARGET-30-PASGUT COSM1284934 c.785C>T p.P262L Substitution - Missense 6:53092530-53092530 + TCGA-AD-5900-01 COSM1445193 c.438C>T p.Y146Y Substitution - coding silent 6:53080968-53080968 + TCGA-DM-A1D9-01 COSM1445194 c.894G>T p.R298S Substitution - Missense 6:53093466-53093466 + TCGA-EK-A2RJ-01 COSM4831804 c.82G>A p.D28N Substitution - Missense 6:53071105-53071105 + TCGA-B0-4846-01 COSM3366561 c.685G>T p.D229Y Substitution - Missense 6:53092430-53092430 + TCGA-D1-A17Q-01 COSM1080307 c.475C>T p.L159F Substitution - Missense 6:53081005-53081005 + 2492729 COSM5729716 c.610G>A p.V204M Substitution - Missense 6:53082545-53082545 + TCGA-EE-A2MP-06 COSM3628542 c.352C>T p.R118C Substitution - Missense 6:53078813-53078813 + ESCC-210T COSM3355276 c.236C>T p.S79L Substitution - Missense 6:53073596-53073596 + HCC170 COSM3662625 c.236C>A p.S79* Substitution - Nonsense 6:53073596-53073596 + LS411 COSM4646784 c.1278G>A p.K426K Substitution - coding silent 6:53097764-53097764 + TCGA-AP-A059-01 COSM1080311 c.1114C>T p.R372C Substitution - Missense 6:53095543-53095543 + TCGA-HU-A4H4-01 COSM3874798 c.749C>T p.P250L Substitution - Missense 6:53092494-53092494 + T3064 COSM3874798 c.749C>T p.P250L Substitution - Missense 6:53092494-53092494 + PARBRK COSM5005469 c.1019G>A p.R340H Substitution - Missense 6:53093914-53093914 + SH-0622 COSM5018811 c.396delT p.Y133fs*64 Deletion - Frameshift 6:53078857-53078857 + PDA_080 COSM5002443 c.1336C>A p.P446T Substitution - Missense 6:53097822-53097822 + TCGA-AK-3431-01 COSM3366560 c.524A>C p.K175T Substitution - Missense 6:53081054-53081054 + BCM567T COSM4955431 c.345G>T p.K115N Substitution - Missense 6:53078806-53078806 + TCGA-CZ-5461-01 COSM484206 c.896A>G p.Y299C Substitution - Missense 6:53093468-53093468 + CSCC-31-T COSM4563790 c.98G>A p.S33N Substitution - Missense 6:53071121-53071121 + MO_1013 COSM5557664 c.389A>G p.K130R Substitution - Missense 6:53078850-53078850 + BRC29 COSM5026567 c.454G>T p.D152Y Substitution - Missense 6:53080984-53080984 + TCGA-AP-A051-01 COSM1080309 c.526C>A p.L176M Substitution - Missense 6:53081056-53081056 + TCGA-AX-A05Z-01 COSM1080305 c.140G>A p.R47Q Substitution - Missense 6:53073500-53073500 + TCGA-Q1-A73O-01 COSM4835733 c.902G>A p.R301K Substitution - Missense 6:53093474-53093474 + 2492730 COSM5729716 c.610G>A p.V204M Substitution - Missense 6:53082545-53082545 + TCGA-BR-A4QL-01 COSM3874799 c.782G>A p.R261Q Substitution - Missense 6:53092527-53092527 + CSCC-16-T COSM4568722 c.1291T>C p.L431L Substitution - coding silent 6:53097777-53097777 + HCC170T COSM3662625 c.236C>A p.S79* Substitution - Nonsense 6:53073596-53073596 + YUKAT COSM5405576 c.591G>A p.M197I Substitution - Missense 6:53082526-53082526 + TCGA-D5-6928-01 COSM1445192 c.33G>T p.Q11H Substitution - Missense 6:53071056-53071056 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.216641;Hs.216642;Hs.216652;Hs.216653 6p12.3-p11.2 609091

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K175T c.524A>C 6 52945852 RCCC CC TT Missense p.P250L c.748_749delinsTT 6 52957291 CM C G Missense p.T313S c.938C>G 6 52958308 PAAD C T IntronicSNV . c.893+43C>T 6 52957665 CM C T Missense p.H384Y c.1150C>T 6 52960377 CM C T Missense p.P250S c.748C>T 6 52957291 CM C T Missense p.P262L c.785C>T 6 52957328 NB C T Missense p.R118C c.352C>T 6 52943611 CM C T Missense p.R234C c.700C>T 6 52957243 STAD C T Missense p.S189L c.566C>T 6 52945894 LUSC C T Missense p.S74F c.221C>T 6 52938379 PAAD G A Missense p.D380N c.1138G>A 6 52960365 CM G A Synonymous p.L208L c.624G>A 6 52947357 ALL G C IntronicSNV . c.683+4834G>C 6 52952250 CLL G T IntronicSNV . c.684-502G>T 6 52956725 MB G T Missense p.D152Y c.454G>T 6 52945782 BRCA G T Missense p.D229Y c.685G>T 6 52957228 RCCC T C Synonymous p.H384H c.1152T>C 6 52960379 CM T C Synonymous p.T132T c.396T>C 6 52943655 RCCC