Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 13 50586119 50586119 + Missense_Mutation SNP A A G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 g.chr13:50586119A>G c.43A>G c.(43-45)Agt>Ggt p.S15G BLCA 13 50586334 50586334 + Missense_Mutation SNP G G C TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr13:50586334G>C c.258G>C c.(256-258)aaG>aaC p.K86N BLCA 13 50586460 50586460 + Missense_Mutation SNP C C G TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr13:50586460C>G c.384C>G c.(382-384)ttC>ttG p.F128L BLCA 13 50586671 50586671 + Missense_Mutation SNP G G A TCGA-DK-A6B5-01A-11D-A31L-08 TCGA-DK-A6B5-10A-01D-A31J-08 g.chr13:50586671G>A c.595G>A c.(595-597)Gaa>Aaa p.E199K BLCA 13 50586977 50586977 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr13:50586977C>G c.901C>G c.(901-903)Caa>Gaa p.Q301E BLCA 13 50587172 50587172 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr13:50587172G>C c.1096G>C c.(1096-1098)Gaa>Caa p.E366Q BLCA 13 50587216 50587216 + Silent SNP C C T TCGA-2F-A9KR-01A-11D-A38G-08 TCGA-2F-A9KR-10A-01D-A38J-08 g.chr13:50587216C>T c.1140C>T c.(1138-1140)ttC>ttT p.F380F BRCA 13 50586098 50586098 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr13:50586098C>T c.22C>T c.(22-24)Ctc>Ttc p.L8F BRCA 13 50586375 50586375 + Missense_Mutation SNP A A G TCGA-B6-A40C-01A-11D-A23C-09 TCGA-B6-A40C-10A-01D-A23C-09 g.chr13:50586375A>G c.299A>G c.(298-300)cAg>cGg p.Q100R BRCA 13 50586521 50586521 + Missense_Mutation SNP T T C TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr13:50586521T>C c.445T>C c.(445-447)Ttt>Ctt p.F149L BRCA 13 50586630 50586630 + Missense_Mutation SNP T T G TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr13:50586630T>G c.554T>G c.(553-555)tTt>tGt p.F185C BRCA 13 50587116 50587116 + Nonsense_Mutation SNP G G A TCGA-C8-A274-01A-11D-A16D-09 TCGA-C8-A274-10A-01D-A16D-09 g.chr13:50587116G>A c.1040G>A c.(1039-1041)tGg>tAg p.W347* BRCA 13 50587226 50587226 + Missense_Mutation SNP G G A TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 g.chr13:50587226G>A c.1150G>A c.(1150-1152)Gaa>Aaa p.E384K BRCA 13 50587274 50587275 + Frame_Shift_Del DEL TT TT - TCGA-BH-A0AW-01A-11W-A071-09 TCGA-BH-A0AW-10A-01W-A071-09 g.chr13:50587274_50587275delTT c.1198_1199delTT c.(1198-1200)tttfs p.F400fs CESC 13 50587012 50587012 + Missense_Mutation SNP G G T TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 g.chr13:50587012G>T c.936G>T c.(934-936)tgG>tgT p.W312C COAD 13 50586536 50586536 + Missense_Mutation SNP C C T TCGA-AA-3848-01A-01W-0900-09 TCGA-AA-3848-10A-01W-0900-09 g.chr13:50586536C>T c.460C>T c.(460-462)Cgg>Tgg p.R154W COAD 13 50586536 50586536 + Missense_Mutation SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr13:50586536C>T c.460C>T c.(460-462)Cgg>Tgg p.R154W COAD 13 50586659 50586659 + Missense_Mutation SNP C C A TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr13:50586659C>A c.583C>A c.(583-585)Caa>Aaa p.Q195K COAD 13 50586659 50586659 + Missense_Mutation SNP C C A TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr13:50586659C>A c.583C>A c.(583-585)Caa>Aaa p.Q195K COAD 13 50586659 50586659 + Nonsense_Mutation SNP C C T TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr13:50586659C>T c.583C>T c.(583-585)Caa>Taa p.Q195* COAD 13 50586660 50586660 + Missense_Mutation SNP A A G TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr13:50586660A>G c.584A>G c.(583-585)cAa>cGa p.Q195R COAD 13 50586913 50586913 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr13:50586913G>T c.837G>T c.(835-837)aaG>aaT p.K279N COAD 13 50587063 50587063 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr13:50587063C>T c.987C>T c.(985-987)gtC>gtT p.V329V COADREAD 13 50586536 50586536 + Missense_Mutation SNP C C T TCGA-AA-3848-01A-01W-0900-09 TCGA-AA-3848-10A-01W-0900-09 g.chr13:50586536C>T c.460C>T c.(460-462)Cgg>Tgg p.R154W COADREAD 13 50586536 50586536 + Missense_Mutation SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr13:50586536C>T c.460C>T c.(460-462)Cgg>Tgg p.R154W COADREAD 13 50586659 50586659 + Missense_Mutation SNP C C A TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr13:50586659C>A c.583C>A c.(583-585)Caa>Aaa p.Q195K COADREAD 13 50586659 50586659 + Missense_Mutation SNP C C A TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr13:50586659C>A c.583C>A c.(583-585)Caa>Aaa p.Q195K COADREAD 13 50586659 50586659 + Nonsense_Mutation SNP C C T TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr13:50586659C>T c.583C>T c.(583-585)Caa>Taa p.Q195* COADREAD 13 50586660 50586660 + Missense_Mutation SNP A A G TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr13:50586660A>G c.584A>G c.(583-585)cAa>cGa p.Q195R COADREAD 13 50586913 50586913 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr13:50586913G>T c.837G>T c.(835-837)aaG>aaT p.K279N COADREAD 13 50586951 50586951 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:50586951T>C c.875T>C c.(874-876)gTc>gCc p.V292A COADREAD 13 50587063 50587063 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr13:50587063C>T c.987C>T c.(985-987)gtC>gtT p.V329V COADREAD 13 50587237 50587237 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:50587237G>T c.1161G>T c.(1159-1161)aaG>aaT p.K387N ESCA 13 50586140 50586140 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 g.chr13:50586140G>A c.64G>A c.(64-66)Gtt>Att p.V22I ESCA 13 50586798 50586798 + Missense_Mutation SNP A A T TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 g.chr13:50586798A>T c.722A>T c.(721-723)gAt>gTt p.D241V GBM 13 50587073 50587073 + Missense_Mutation SNP A A T TCGA-12-0618-01A-01D-1492-08 TCGA-12-0618-10A-01D-1492-08 g.chr13:50587073A>T c.997A>T c.(997-999)Acc>Tcc p.T333S GBMLGG 13 50586070 50586070 + Splice_Site SNP G G A TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 g.chr13:50586070G>A c.e2-1 GBMLGG 13 50586242 50586242 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:50586242A>G c.166A>G c.(166-168)Aca>Gca p.T56A GBMLGG 13 50586329 50586329 + Missense_Mutation SNP A A G TCGA-DU-7010-01A-11D-2024-08 TCGA-DU-7010-10A-01D-2024-08 g.chr13:50586329A>G c.253A>G c.(253-255)Atc>Gtc p.I85V GBMLGG 13 50586723 50586723 + Missense_Mutation SNP A A C TCGA-P5-A736-01A-11D-A32B-08 TCGA-P5-A736-10A-01D-A329-08 g.chr13:50586723A>C c.647A>C c.(646-648)gAc>gCc p.D216A GBMLGG 13 50586765 50586765 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:50586765G>A c.689G>A c.(688-690)cGg>cAg p.R230Q GBMLGG 13 50587073 50587073 + Missense_Mutation SNP A A T TCGA-12-0618-01A-01D-1492-08 TCGA-12-0618-10A-01D-1492-08 g.chr13:50587073A>T c.997A>T c.(997-999)Acc>Tcc p.T333S HNSC 13 50586100 50586100 + Silent SNP C C G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 g.chr13:50586100C>G c.24C>G c.(22-24)ctC>ctG p.L8L HNSC 13 50586468 50586468 + Missense_Mutation SNP T T C TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 g.chr13:50586468T>C c.392T>C c.(391-393)aTt>aCt p.I131T HNSC 13 50586806 50586806 + Missense_Mutation SNP G G C TCGA-CV-6943-01A-11D-1912-08 TCGA-CV-6943-10A-01D-1912-08 g.chr13:50586806G>C c.730G>C c.(730-732)Gaa>Caa p.E244Q HNSC 13 50586862 50586862 + Missense_Mutation SNP C C G TCGA-H7-A76A-01A-51D-A34J-08 TCGA-H7-A76A-10A-01D-A34M-08 g.chr13:50586862C>G c.786C>G c.(784-786)atC>atG p.I262M LGG 13 50586070 50586070 + Splice_Site SNP G G A TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 g.chr13:50586070G>A c.e2-1 LGG 13 50586242 50586242 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:50586242A>G c.166A>G c.(166-168)Aca>Gca p.T56A LGG 13 50586329 50586329 + Missense_Mutation SNP A A G TCGA-DU-7010-01A-11D-2024-08 TCGA-DU-7010-10A-01D-2024-08 g.chr13:50586329A>G c.253A>G c.(253-255)Atc>Gtc p.I85V LGG 13 50586723 50586723 + Missense_Mutation SNP A A C TCGA-P5-A736-01A-11D-A32B-08 TCGA-P5-A736-10A-01D-A329-08 g.chr13:50586723A>C c.647A>C c.(646-648)gAc>gCc p.D216A LGG 13 50586765 50586765 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:50586765G>A c.689G>A c.(688-690)cGg>cAg p.R230Q LIHC 13 50586334 50586335 + Frame_Shift_Ins INS - - A TCGA-2Y-A9H2-01A-12D-A382-10 TCGA-2Y-A9H2-10A-01D-A385-10 g.chr13:50586334_50586335insA c.258_259insA c.(259-261)atcfs p.I87fs LIHC 13 50586446 50586446 + Missense_Mutation SNP A A G TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr13:50586446A>G c.370A>G c.(370-372)Acc>Gcc p.T124A LIHC 13 50586458 50586458 + Missense_Mutation SNP T T C TCGA-DD-AADG-01A-11D-A40R-10 TCGA-DD-AADG-10A-01D-A40U-10 g.chr13:50586458T>C c.382T>C c.(382-384)Ttc>Ctc p.F128L LUAD 13 50586524 50586524 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 g.chr13:50586524G>C c.448G>C c.(448-450)Gag>Cag p.E150Q LUAD 13 50586540 50586540 + Missense_Mutation SNP G G T TCGA-55-6975-01A-11D-1945-08 TCGA-55-6975-11A-01D-1945-08 g.chr13:50586540G>T c.464G>T c.(463-465)gGa>gTa p.G155V LUAD 13 50586697 50586697 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr13:50586697G>C c.621G>C c.(619-621)atG>atC p.M207I LUAD 13 50587237 50587237 + Missense_Mutation SNP G G C TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr13:50587237G>C c.1161G>C c.(1159-1161)aaG>aaC p.K387N OV 13 50586659 50586659 + Nonsense_Mutation SNP C C T TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 g.chr13:50586659C>T c.583C>T c.(583-585)Caa>Taa p.Q195* OV 13 50587277 50587277 + Missense_Mutation SNP G G T TCGA-13-0885-01A-02W-0421-09 TCGA-13-0885-10A-01W-0421-09 g.chr13:50587277G>T c.1201G>T c.(1201-1203)Gtg>Ttg p.V401L READ 13 50586951 50586951 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:50586951T>C c.875T>C c.(874-876)gTc>gCc p.V292A READ 13 50587237 50587237 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr13:50587237G>T c.1161G>T c.(1159-1161)aaG>aaT p.K387N SKCM 13 50586282 50586282 + Missense_Mutation SNP T T C TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr13:50586282T>C c.206T>C c.(205-207)cTg>cCg p.L69P SKCM 13 50586631 50586631 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr13:50586631T>A c.555T>A c.(553-555)ttT>ttA p.F185L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 13 50590174 50590174 single base substitution C G 3_prime_UTR_variant BLCA-US 13 50590174 50590174 single base substitution C G downstream_gene_variant BLCA-US 13 50590174 50590174 single base substitution C G intron_variant BOCA-UK 13 50590185 50590196 deletion of <=200bp ACTGATAACCAA - 3_prime_UTR_variant BOCA-UK 13 50590185 50590196 deletion of <=200bp ACTGATAACCAA - downstream_gene_variant BOCA-UK 13 50590185 50590196 deletion of <=200bp ACTGATAACCAA - intron_variant BRCA-EU 13 50566370 50566370 single base substitution G A upstream_gene_variant BRCA-EU 13 50567903 50567903 single base substitution C T upstream_gene_variant BRCA-EU 13 50568644 50568644 single base substitution T C upstream_gene_variant BRCA-EU 13 50569837 50569837 single base substitution C A upstream_gene_variant BRCA-EU 13 50571186 50571186 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 13 50571186 50571186 single base substitution T G exon_variant BRCA-EU 13 50571186 50571186 single base substitution T G intron_variant BRCA-EU 13 50571186 50571186 single base substitution T G upstream_gene_variant BRCA-EU 13 50572816 50572816 single base substitution T C intron_variant BRCA-EU 13 50572816 50572816 single base substitution T C upstream_gene_variant BRCA-EU 13 50572849 50572849 single base substitution G C intron_variant BRCA-EU 13 50572849 50572849 single base substitution G C upstream_gene_variant BRCA-EU 13 50572862 50572862 single base substitution C T intron_variant BRCA-EU 13 50572862 50572862 single base substitution C T upstream_gene_variant BRCA-EU 13 50574683 50574683 single base substitution T G intron_variant BRCA-EU 13 50574683 50574683 single base substitution T G upstream_gene_variant BRCA-EU 13 50574768 50574768 single base substitution C G intron_variant BRCA-EU 13 50574768 50574768 single base substitution C G upstream_gene_variant BRCA-EU 13 50575279 50575279 single base substitution T G intron_variant BRCA-EU 13 50577105 50577105 single base substitution C G intron_variant BRCA-EU 13 50577496 50577496 insertion of <=200bp - A intron_variant BRCA-EU 13 50577923 50577923 single base substitution C T intron_variant BRCA-EU 13 50579599 50579599 single base substitution C T intron_variant BRCA-EU 13 50579787 50579787 single base substitution G A intron_variant BRCA-EU 13 50580056 50580056 single base substitution T C intron_variant BRCA-EU 13 50580609 50580609 single base substitution C G intron_variant BRCA-EU 13 50581452 50581452 single base substitution C T intron_variant BRCA-EU 13 50581513 50581513 single base substitution G T intron_variant BRCA-EU 13 50581917 50581917 single base substitution T A intron_variant BRCA-EU 13 50581923 50581923 single base substitution A C intron_variant BRCA-EU 13 50583854 50583854 single base substitution C G intron_variant BRCA-EU 13 50583893 50583893 insertion of <=200bp - C intron_variant BRCA-EU 13 50584850 50584850 single base substitution T C intron_variant BRCA-EU 13 50584938 50584938 single base substitution C T intron_variant BRCA-EU 13 50586503 50586503 single base substitution G A downstream_gene_variant BRCA-EU 13 50586503 50586503 single base substitution G A intron_variant BRCA-EU 13 50586503 50586503 single base substitution G A missense_variant E143K 427G>A BRCA-EU 13 50586503 50586503 single base substitution G A missense_variant E146K 436G>A BRCA-EU 13 50587501 50587502 deletion of <=200bp AA - 3_prime_UTR_variant BRCA-EU 13 50587501 50587502 deletion of <=200bp AA - downstream_gene_variant BRCA-EU 13 50587501 50587502 deletion of <=200bp AA - intron_variant BRCA-EU 13 50589130 50589130 single base substitution G C 3_prime_UTR_variant BRCA-EU 13 50589130 50589130 single base substitution G C downstream_gene_variant BRCA-EU 13 50589130 50589130 single base substitution G C intron_variant BRCA-EU 13 50589878 50589878 single base substitution G C 3_prime_UTR_variant BRCA-EU 13 50589878 50589878 single base substitution G C downstream_gene_variant BRCA-EU 13 50589878 50589878 single base substitution G C intron_variant BRCA-EU 13 50589960 50589960 single base substitution G A 3_prime_UTR_variant BRCA-EU 13 50589960 50589960 single base substitution G A downstream_gene_variant BRCA-EU 13 50589960 50589960 single base substitution G A intron_variant BRCA-EU 13 50590579 50590579 single base substitution C T 3_prime_UTR_variant BRCA-EU 13 50590579 50590579 single base substitution C T downstream_gene_variant BRCA-EU 13 50590579 50590579 single base substitution C T intron_variant BRCA-EU 13 50590924 50590924 single base substitution G A 3_prime_UTR_variant BRCA-EU 13 50590924 50590924 single base substitution G A downstream_gene_variant BRCA-EU 13 50590924 50590924 single base substitution G A intron_variant BRCA-EU 13 50591785 50591785 single base substitution T G 3_prime_UTR_variant BRCA-EU 13 50591785 50591785 single base substitution T G downstream_gene_variant BRCA-EU 13 50591785 50591785 single base substitution T G intron_variant BRCA-EU 13 50591812 50591812 single base substitution T C 3_prime_UTR_variant BRCA-EU 13 50591812 50591812 single base substitution T C downstream_gene_variant BRCA-EU 13 50591812 50591812 single base substitution T C intron_variant BRCA-EU 13 50592256 50592256 single base substitution C G 3_prime_UTR_variant BRCA-EU 13 50592256 50592256 single base substitution C G downstream_gene_variant BRCA-EU 13 50592256 50592256 single base substitution C G intron_variant BRCA-EU 13 50594529 50594529 single base substitution C T downstream_gene_variant BRCA-EU 13 50594529 50594529 single base substitution C T exon_variant BRCA-EU 13 50594599 50594599 single base substitution A G downstream_gene_variant BRCA-EU 13 50594599 50594599 single base substitution A G exon_variant BRCA-EU 13 50594602 50594602 single base substitution C A downstream_gene_variant BRCA-EU 13 50594602 50594602 single base substitution C A exon_variant BRCA-EU 13 50594846 50594846 single base substitution A C downstream_gene_variant BRCA-EU 13 50598339 50598339 single base substitution A G downstream_gene_variant BRCA-EU 13 50598618 50598618 single base substitution G A downstream_gene_variant BRCA-EU 13 50598868 50598868 single base substitution C G downstream_gene_variant BRCA-FR 13 50567903 50567903 single base substitution C T upstream_gene_variant BRCA-FR 13 50568821 50568821 single base substitution A G upstream_gene_variant BRCA-FR 13 50569312 50569312 single base substitution C T upstream_gene_variant BRCA-FR 13 50570963 50570963 single base substitution C T 5_prime_UTR_variant BRCA-FR 13 50570963 50570963 single base substitution C T exon_variant BRCA-FR 13 50570963 50570963 single base substitution C T intron_variant BRCA-FR 13 50570963 50570963 single base substitution C T upstream_gene_variant BRCA-FR 13 50579599 50579599 single base substitution C T intron_variant BRCA-FR 13 50580609 50580609 single base substitution C G intron_variant BRCA-FR 13 50582144 50582144 single base substitution C T intron_variant BRCA-FR 13 50584850 50584850 single base substitution T C intron_variant BRCA-FR 13 50586583 50586583 single base substitution G A downstream_gene_variant BRCA-FR 13 50586583 50586583 single base substitution G A intron_variant BRCA-FR 13 50586583 50586583 single base substitution G A synonymous_variant R169R 507G>A BRCA-FR 13 50586583 50586583 single base substitution G A synonymous_variant R172R 516G>A BRCA-FR 13 50589878 50589878 single base substitution G C 3_prime_UTR_variant BRCA-FR 13 50589878 50589878 single base substitution G C downstream_gene_variant BRCA-FR 13 50589878 50589878 single base substitution G C intron_variant BRCA-FR 13 50598339 50598339 single base substitution A G downstream_gene_variant BRCA-US 13 50586098 50586098 single base substitution C T intron_variant BRCA-US 13 50586098 50586098 single base substitution C T missense_variant L11F 31C>T BRCA-US 13 50586098 50586098 single base substitution C T missense_variant L8F 22C>T BRCA-US 13 50586375 50586375 single base substitution A G intron_variant BRCA-US 13 50586375 50586375 single base substitution A G missense_variant Q100R 299A>G BRCA-US 13 50586375 50586375 single base substitution A G missense_variant Q103R 308A>G BRCA-US 13 50586521 50586521 single base substitution T C downstream_gene_variant BRCA-US 13 50586521 50586521 single base substitution T C intron_variant BRCA-US 13 50586521 50586521 single base substitution T C missense_variant F149L 445T>C BRCA-US 13 50586521 50586521 single base substitution T C missense_variant F152L 454T>C BRCA-US 13 50586630 50586630 single base substitution T G downstream_gene_variant BRCA-US 13 50586630 50586630 single base substitution T G intron_variant BRCA-US 13 50586630 50586630 single base substitution T G missense_variant F185C 554T>G BRCA-US 13 50586630 50586630 single base substitution T G missense_variant F188C 563T>G BRCA-US 13 50587116 50587116 single base substitution G A downstream_gene_variant BRCA-US 13 50587116 50587116 single base substitution G A intron_variant BRCA-US 13 50587116 50587116 single base substitution G A stop_gained W347* 1040G>A BRCA-US 13 50587116 50587116 single base substitution G A stop_gained W350* 1049G>A BRCA-US 13 50587226 50587226 single base substitution G A downstream_gene_variant BRCA-US 13 50587226 50587226 single base substitution G A intron_variant BRCA-US 13 50587226 50587226 single base substitution G A missense_variant E384K 1150G>A BRCA-US 13 50587226 50587226 single base substitution G A missense_variant E387K 1159G>A BRCA-US 13 50587274 50587275 deletion of <=200bp TT - downstream_gene_variant BRCA-US 13 50587274 50587275 deletion of <=200bp TT - frameshift_variant F400 BRCA-US 13 50587274 50587275 deletion of <=200bp TT - frameshift_variant F403 BRCA-US 13 50587274 50587275 deletion of <=200bp TT - intron_variant BRCA-US 13 50594417 50594417 single base substitution G C downstream_gene_variant BRCA-US 13 50594417 50594417 single base substitution G C exon_variant BTCA-JP 13 50586990 50586990 insertion of <=200bp - CATT downstream_gene_variant BTCA-JP 13 50586990 50586990 insertion of <=200bp - CATT frameshift_variant T305TF? BTCA-JP 13 50586990 50586990 insertion of <=200bp - CATT frameshift_variant T308TF? BTCA-JP 13 50586990 50586990 insertion of <=200bp - CATT intron_variant BTCA-JP 13 50589806 50589837 deletion of <=200bp TTTCATCTTAGATTTTTTGAGAACTCACCAGC - 3_prime_UTR_variant BTCA-JP 13 50589806 50589837 deletion of <=200bp TTTCATCTTAGATTTTTTGAGAACTCACCAGC - downstream_gene_variant BTCA-JP 13 50589806 50589837 deletion of <=200bp TTTCATCTTAGATTTTTTGAGAACTCACCAGC - intron_variant BTCA-JP 13 50589809 50589809 single base substitution C T 3_prime_UTR_variant BTCA-JP 13 50589809 50589809 single base substitution C T downstream_gene_variant BTCA-JP 13 50589809 50589809 single base substitution C T intron_variant BTCA-JP 13 50589867 50589867 single base substitution C G 3_prime_UTR_variant BTCA-JP 13 50589867 50589867 single base substitution C G downstream_gene_variant BTCA-JP 13 50589867 50589867 single base substitution C G intron_variant CESC-US 13 50587012 50587012 single base substitution G T downstream_gene_variant CESC-US 13 50587012 50587012 single base substitution G T intron_variant CESC-US 13 50587012 50587012 single base substitution G T missense_variant W312C 936G>T CESC-US 13 50587012 50587012 single base substitution G T missense_variant W315C 945G>T CESC-US 13 50594391 50594391 single base substitution G A downstream_gene_variant CESC-US 13 50594391 50594391 single base substitution G A exon_variant CLLE-ES 13 50571881 50571881 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant CLLE-ES 13 50571881 50571881 single base substitution C G exon_variant CLLE-ES 13 50571881 50571881 single base substitution C G upstream_gene_variant CLLE-ES 13 50576212 50576212 single base substitution A T intron_variant CLLE-ES 13 50576839 50576839 single base substitution T A intron_variant CLLE-ES 13 50588916 50588916 single base substitution C G 3_prime_UTR_variant CLLE-ES 13 50588916 50588916 single base substitution C G downstream_gene_variant CLLE-ES 13 50588916 50588916 single base substitution C G intron_variant COAD-US 13 50587655 50587665 deletion of <=200bp TTTTTTTTTTT - 3_prime_UTR_variant COAD-US 13 50587655 50587665 deletion of <=200bp TTTTTTTTTTT - downstream_gene_variant COAD-US 13 50587655 50587665 deletion of <=200bp TTTTTTTTTTT - intron_variant COAD-US 13 50588307 50588307 deletion of <=200bp A - 3_prime_UTR_variant COAD-US 13 50588307 50588307 deletion of <=200bp A - downstream_gene_variant COAD-US 13 50588307 50588307 deletion of <=200bp A - intron_variant COAD-US 13 50588497 50588500 deletion of <=200bp ACAC - 3_prime_UTR_variant COAD-US 13 50588497 50588500 deletion of <=200bp ACAC - downstream_gene_variant COAD-US 13 50588497 50588500 deletion of <=200bp ACAC - intron_variant COAD-US 13 50589658 50589658 single base substitution A G 3_prime_UTR_variant COAD-US 13 50589658 50589658 single base substitution A G downstream_gene_variant COAD-US 13 50589658 50589658 single base substitution A G intron_variant COAD-US 13 50589903 50589903 single base substitution C T 3_prime_UTR_variant COAD-US 13 50589903 50589903 single base substitution C T downstream_gene_variant COAD-US 13 50589903 50589903 single base substitution C T intron_variant COAD-US 13 50590292 50590292 insertion of <=200bp - CTC 3_prime_UTR_variant COAD-US 13 50590292 50590292 insertion of <=200bp - CTC downstream_gene_variant COAD-US 13 50590292 50590292 insertion of <=200bp - CTC intron_variant COAD-US 13 50590335 50590336 deletion of <=200bp GT - 3_prime_UTR_variant COAD-US 13 50590335 50590336 deletion of <=200bp GT - downstream_gene_variant COAD-US 13 50590335 50590336 deletion of <=200bp GT - intron_variant COAD-US 13 50591000 50591001 deletion of <=200bp TT - 3_prime_UTR_variant COAD-US 13 50591000 50591001 deletion of <=200bp TT - downstream_gene_variant COAD-US 13 50591000 50591001 deletion of <=200bp TT - intron_variant COAD-US 13 50591341 50591341 insertion of <=200bp - T 3_prime_UTR_variant COAD-US 13 50591341 50591341 insertion of <=200bp - T downstream_gene_variant COAD-US 13 50591341 50591341 insertion of <=200bp - T intron_variant COAD-US 13 50591342 50591342 deletion of <=200bp T - 3_prime_UTR_variant COAD-US 13 50591342 50591342 deletion of <=200bp T - downstream_gene_variant COAD-US 13 50591342 50591342 deletion of <=200bp T - intron_variant COAD-US 13 50591419 50591419 deletion of <=200bp A - 3_prime_UTR_variant COAD-US 13 50591419 50591419 deletion of <=200bp A - downstream_gene_variant COAD-US 13 50591419 50591419 deletion of <=200bp A - intron_variant COAD-US 13 50591493 50591493 deletion of <=200bp A - 3_prime_UTR_variant COAD-US 13 50591493 50591493 deletion of <=200bp A - downstream_gene_variant COAD-US 13 50591493 50591493 deletion of <=200bp A - intron_variant COAD-US 13 50594442 50594442 single base substitution A G downstream_gene_variant COAD-US 13 50594442 50594442 single base substitution A G exon_variant COCA-CN 13 50565451 50565451 single base substitution T C upstream_gene_variant COCA-CN 13 50586002 50586002 single base substitution C A intron_variant COCA-CN 13 50586334 50586334 single base substitution G T intron_variant COCA-CN 13 50586334 50586334 single base substitution G T missense_variant K86N 258G>T COCA-CN 13 50586334 50586334 single base substitution G T missense_variant K89N 267G>T COCA-CN 13 50589591 50589591 single base substitution T C 3_prime_UTR_variant COCA-CN 13 50589591 50589591 single base substitution T C downstream_gene_variant COCA-CN 13 50589591 50589591 single base substitution T C intron_variant COCA-CN 13 50589750 50589750 single base substitution G T 3_prime_UTR_variant COCA-CN 13 50589750 50589750 single base substitution G T downstream_gene_variant COCA-CN 13 50589750 50589750 single base substitution G T intron_variant COCA-CN 13 50590076 50590076 single base substitution G A 3_prime_UTR_variant COCA-CN 13 50590076 50590076 single base substitution G A downstream_gene_variant COCA-CN 13 50590076 50590076 single base substitution G A intron_variant COCA-CN 13 50594357 50594357 single base substitution T C downstream_gene_variant COCA-CN 13 50594357 50594357 single base substitution T C exon_variant COCA-CN 13 50594642 50594642 single base substitution G A downstream_gene_variant ESAD-UK 13 50565449 50565449 single base substitution C A upstream_gene_variant ESAD-UK 13 50565645 50565645 insertion of <=200bp - AATAAATCAATC upstream_gene_variant ESAD-UK 13 50570387 50570387 single base substitution G A intron_variant ESAD-UK 13 50570387 50570387 single base substitution G A upstream_gene_variant ESAD-UK 13 50572302 50572302 single base substitution G A intron_variant ESAD-UK 13 50572302 50572302 single base substitution G A upstream_gene_variant ESAD-UK 13 50572871 50572871 single base substitution C T intron_variant ESAD-UK 13 50572871 50572871 single base substitution C T upstream_gene_variant ESAD-UK 13 50573379 50573379 single base substitution C G intron_variant ESAD-UK 13 50573379 50573379 single base substitution C G upstream_gene_variant ESAD-UK 13 50574219 50574219 single base substitution C G intron_variant ESAD-UK 13 50574219 50574219 single base substitution C G upstream_gene_variant ESAD-UK 13 50576484 50576484 single base substitution C A intron_variant ESAD-UK 13 50576837 50576837 single base substitution C T intron_variant ESAD-UK 13 50576904 50576904 single base substitution T C intron_variant ESAD-UK 13 50576983 50576983 single base substitution G C intron_variant ESAD-UK 13 50577168 50577168 single base substitution G C intron_variant ESAD-UK 13 50578987 50578987 single base substitution G A intron_variant ESAD-UK 13 50579916 50579916 single base substitution G T intron_variant ESAD-UK 13 50580427 50580427 single base substitution C A intron_variant ESAD-UK 13 50580854 50580854 single base substitution A C intron_variant ESAD-UK 13 50582110 50582110 single base substitution G A intron_variant ESAD-UK 13 50583575 50583575 single base substitution C G intron_variant ESAD-UK 13 50584292 50584292 single base substitution C T intron_variant ESAD-UK 13 50584352 50584352 deletion of <=200bp T - intron_variant ESAD-UK 13 50584759 50584760 deletion of <=200bp AA - intron_variant ESAD-UK 13 50585963 50585963 single base substitution T C intron_variant ESAD-UK 13 50586926 50586926 single base substitution A G downstream_gene_variant ESAD-UK 13 50586926 50586926 single base substitution A G intron_variant ESAD-UK 13 50586926 50586926 single base substitution A G missense_variant S284G 850A>G ESAD-UK 13 50586926 50586926 single base substitution A G missense_variant S287G 859A>G ESAD-UK 13 50587344 50587344 single base substitution G C 3_prime_UTR_variant ESAD-UK 13 50587344 50587344 single base substitution G C downstream_gene_variant ESAD-UK 13 50587344 50587344 single base substitution G C intron_variant ESAD-UK 13 50588789 50588789 single base substitution C A 3_prime_UTR_variant ESAD-UK 13 50588789 50588789 single base substitution C A downstream_gene_variant ESAD-UK 13 50588789 50588789 single base substitution C A intron_variant ESAD-UK 13 50589360 50589360 single base substitution G A 3_prime_UTR_variant ESAD-UK 13 50589360 50589360 single base substitution G A downstream_gene_variant ESAD-UK 13 50589360 50589360 single base substitution G A intron_variant ESAD-UK 13 50591342 50591342 insertion of <=200bp - T 3_prime_UTR_variant ESAD-UK 13 50591342 50591342 insertion of <=200bp - T downstream_gene_variant ESAD-UK 13 50591342 50591342 insertion of <=200bp - T intron_variant ESAD-UK 13 50592966 50592966 single base substitution T G downstream_gene_variant ESAD-UK 13 50592966 50592966 single base substitution T G intron_variant ESAD-UK 13 50593342 50593342 single base substitution G A downstream_gene_variant ESAD-UK 13 50593342 50593342 single base substitution G A intron_variant ESAD-UK 13 50593893 50593893 single base substitution G T downstream_gene_variant ESAD-UK 13 50593893 50593893 single base substitution G T intron_variant ESAD-UK 13 50594001 50594001 single base substitution C G downstream_gene_variant ESAD-UK 13 50594001 50594001 single base substitution C G intron_variant ESAD-UK 13 50595344 50595344 single base substitution G A downstream_gene_variant ESAD-UK 13 50596202 50596202 single base substitution C G downstream_gene_variant ESAD-UK 13 50596572 50596572 single base substitution C A downstream_gene_variant ESAD-UK 13 50596724 50596724 single base substitution A T downstream_gene_variant ESAD-UK 13 50597476 50597476 single base substitution A G downstream_gene_variant ESAD-UK 13 50598181 50598181 single base substitution A G downstream_gene_variant ESAD-UK 13 50598209 50598209 single base substitution G A downstream_gene_variant ESAD-UK 13 50598456 50598456 single base substitution C T downstream_gene_variant ESCA-CN 13 50587205 50587205 single base substitution G C downstream_gene_variant ESCA-CN 13 50587205 50587205 single base substitution G C intron_variant ESCA-CN 13 50587205 50587205 single base substitution G C missense_variant D377H 1129G>C ESCA-CN 13 50587205 50587205 single base substitution G C missense_variant D380H 1138G>C GBM-US 13 50587073 50587073 single base substitution A T downstream_gene_variant GBM-US 13 50587073 50587073 single base substitution A T intron_variant GBM-US 13 50587073 50587073 single base substitution A T missense_variant T333S 997A>T GBM-US 13 50587073 50587073 single base substitution A T missense_variant T336S 1006A>T GBM-US 13 50589662 50589662 single base substitution G C 3_prime_UTR_variant GBM-US 13 50589662 50589662 single base substitution G C downstream_gene_variant GBM-US 13 50589662 50589662 single base substitution G C intron_variant GBM-US 13 50589726 50589726 single base substitution C T 3_prime_UTR_variant GBM-US 13 50589726 50589726 single base substitution C T downstream_gene_variant GBM-US 13 50589726 50589726 single base substitution C T intron_variant KIRC-US 13 50594550 50594550 single base substitution A G downstream_gene_variant KIRC-US 13 50594550 50594550 single base substitution A G exon_variant LGG-US 13 50586070 50586070 single base substitution G A intron_variant LGG-US 13 50586070 50586070 single base substitution G A splice_acceptor_variant LGG-US 13 50586329 50586329 single base substitution A G intron_variant LGG-US 13 50586329 50586329 single base substitution A G missense_variant I85V 253A>G LGG-US 13 50586329 50586329 single base substitution A G missense_variant I88V 262A>G LICA-FR 13 50577859 50577859 single base substitution A G intron_variant LICA-FR 13 50590005 50590005 single base substitution T G 3_prime_UTR_variant LICA-FR 13 50590005 50590005 single base substitution T G downstream_gene_variant LICA-FR 13 50590005 50590005 single base substitution T G intron_variant LIHC-US 13 50592279 50592279 single base substitution T C 3_prime_UTR_variant LIHC-US 13 50592279 50592279 single base substitution T C downstream_gene_variant LIHC-US 13 50592279 50592279 single base substitution T C intron_variant LINC-JP 13 50572919 50572919 single base substitution G T intron_variant LINC-JP 13 50572919 50572919 single base substitution G T upstream_gene_variant LINC-JP 13 50572985 50572985 single base substitution T G intron_variant LINC-JP 13 50572985 50572985 single base substitution T G upstream_gene_variant LINC-JP 13 50574826 50574826 single base substitution A T intron_variant LINC-JP 13 50574826 50574826 single base substitution A T upstream_gene_variant LINC-JP 13 50574828 50574828 single base substitution A G intron_variant LINC-JP 13 50574828 50574828 single base substitution A G upstream_gene_variant LINC-JP 13 50577811 50577811 single base substitution T C intron_variant LINC-JP 13 50584490 50584490 single base substitution T A intron_variant LINC-JP 13 50589228 50589228 single base substitution A T 3_prime_UTR_variant LINC-JP 13 50589228 50589228 single base substitution A T downstream_gene_variant LINC-JP 13 50589228 50589228 single base substitution A T intron_variant LINC-JP 13 50590055 50590055 single base substitution G T 3_prime_UTR_variant LINC-JP 13 50590055 50590055 single base substitution G T downstream_gene_variant LINC-JP 13 50590055 50590055 single base substitution G T intron_variant LIRI-JP 13 50565046 50565046 single base substitution G C upstream_gene_variant LIRI-JP 13 50566560 50566560 single base substitution T C upstream_gene_variant LIRI-JP 13 50568517 50568517 single base substitution G T upstream_gene_variant LIRI-JP 13 50570078 50570078 single base substitution G A 5_prime_UTR_variant LIRI-JP 13 50570078 50570078 single base substitution G A upstream_gene_variant LIRI-JP 13 50571822 50571822 single base substitution C A 5_prime_UTR_variant LIRI-JP 13 50571822 50571822 single base substitution C A exon_variant LIRI-JP 13 50571822 50571822 single base substitution C A upstream_gene_variant LIRI-JP 13 50573249 50573249 single base substitution G T intron_variant LIRI-JP 13 50573249 50573249 single base substitution G T upstream_gene_variant LIRI-JP 13 50574571 50574571 single base substitution C G intron_variant LIRI-JP 13 50574571 50574571 single base substitution C G upstream_gene_variant LIRI-JP 13 50574662 50574662 single base substitution T C intron_variant LIRI-JP 13 50574662 50574662 single base substitution T C upstream_gene_variant LIRI-JP 13 50575706 50575706 single base substitution C G intron_variant LIRI-JP 13 50575755 50575755 single base substitution A T intron_variant LIRI-JP 13 50576507 50576507 single base substitution A T intron_variant LIRI-JP 13 50578354 50578354 single base substitution T G intron_variant LIRI-JP 13 50578486 50578486 single base substitution G A intron_variant LIRI-JP 13 50579112 50579112 single base substitution T A intron_variant LIRI-JP 13 50580269 50580269 single base substitution T G intron_variant LIRI-JP 13 50582432 50582432 single base substitution A T intron_variant LIRI-JP 13 50584905 50584905 single base substitution C A intron_variant LIRI-JP 13 50585291 50585291 single base substitution C G intron_variant LIRI-JP 13 50586008 50586008 single base substitution A C intron_variant LIRI-JP 13 50586322 50586322 single base substitution T C intron_variant LIRI-JP 13 50586322 50586322 single base substitution T C synonymous_variant Y82Y 246T>C LIRI-JP 13 50586322 50586322 single base substitution T C synonymous_variant Y85Y 255T>C LIRI-JP 13 50587516 50587516 single base substitution A C 3_prime_UTR_variant LIRI-JP 13 50587516 50587516 single base substitution A C downstream_gene_variant LIRI-JP 13 50587516 50587516 single base substitution A C intron_variant LIRI-JP 13 50590345 50590345 single base substitution G A 3_prime_UTR_variant LIRI-JP 13 50590345 50590345 single base substitution G A downstream_gene_variant LIRI-JP 13 50590345 50590345 single base substitution G A intron_variant LIRI-JP 13 50592139 50592139 single base substitution T G 3_prime_UTR_variant LIRI-JP 13 50592139 50592139 single base substitution T G downstream_gene_variant LIRI-JP 13 50592139 50592139 single base substitution T G intron_variant LIRI-JP 13 50593001 50593001 insertion of <=200bp - C downstream_gene_variant LIRI-JP 13 50593001 50593001 insertion of <=200bp - C intron_variant LIRI-JP 13 50593768 50593768 single base substitution G A downstream_gene_variant LIRI-JP 13 50593768 50593768 single base substitution G A intron_variant LIRI-JP 13 50593846 50593846 single base substitution A C downstream_gene_variant LIRI-JP 13 50593846 50593846 single base substitution A C intron_variant LIRI-JP 13 50594393 50594393 single base substitution A C downstream_gene_variant LIRI-JP 13 50594393 50594393 single base substitution A C exon_variant LIRI-JP 13 50594770 50594770 single base substitution A G downstream_gene_variant LIRI-JP 13 50595908 50595908 single base substitution G C downstream_gene_variant LIRI-JP 13 50596316 50596316 single base substitution T C downstream_gene_variant LIRI-JP 13 50596860 50596860 single base substitution T G downstream_gene_variant LIRI-JP 13 50598381 50598381 single base substitution C A downstream_gene_variant LIRI-JP 13 50598427 50598427 single base substitution G C downstream_gene_variant LIRI-JP 13 50598709 50598709 single base substitution T C downstream_gene_variant LUSC-KR 13 50568752 50568752 single base substitution G A upstream_gene_variant LUSC-KR 13 50576056 50576056 single base substitution T C intron_variant LUSC-KR 13 50579145 50579145 single base substitution G A intron_variant LUSC-KR 13 50586608 50586608 single base substitution G C downstream_gene_variant LUSC-KR 13 50586608 50586608 single base substitution G C intron_variant LUSC-KR 13 50586608 50586608 single base substitution G C missense_variant D178H 532G>C LUSC-KR 13 50586608 50586608 single base substitution G C missense_variant D181H 541G>C LUSC-KR 13 50591616 50591616 single base substitution A G 3_prime_UTR_variant LUSC-KR 13 50591616 50591616 single base substitution A G downstream_gene_variant LUSC-KR 13 50591616 50591616 single base substitution A G intron_variant LUSC-US 13 50589841 50589841 single base substitution T C 3_prime_UTR_variant LUSC-US 13 50589841 50589841 single base substitution T C downstream_gene_variant LUSC-US 13 50589841 50589841 single base substitution T C intron_variant LUSC-US 13 50590025 50590025 single base substitution A G 3_prime_UTR_variant LUSC-US 13 50590025 50590025 single base substitution A G downstream_gene_variant LUSC-US 13 50590025 50590025 single base substitution A G intron_variant MALY-DE 13 50570230 50570230 insertion of <=200bp - C intron_variant MALY-DE 13 50570230 50570230 insertion of <=200bp - C upstream_gene_variant MALY-DE 13 50570271 50570271 single base substitution A T intron_variant MALY-DE 13 50570271 50570271 single base substitution A T upstream_gene_variant MALY-DE 13 50573811 50573811 single base substitution G A intron_variant MALY-DE 13 50573811 50573811 single base substitution G A upstream_gene_variant MALY-DE 13 50576607 50576607 single base substitution T C intron_variant MALY-DE 13 50576631 50576631 single base substitution T G intron_variant MALY-DE 13 50578070 50578070 single base substitution T C intron_variant MALY-DE 13 50578599 50578599 deletion of <=200bp A - intron_variant MALY-DE 13 50584985 50584985 insertion of <=200bp - A intron_variant MALY-DE 13 50585979 50585979 single base substitution C A intron_variant MALY-DE 13 50586706 50586706 single base substitution T G downstream_gene_variant MALY-DE 13 50586706 50586706 single base substitution T G intron_variant MALY-DE 13 50586706 50586706 single base substitution T G synonymous_variant A210A 630T>G MALY-DE 13 50586706 50586706 single base substitution T G synonymous_variant A213A 639T>G MALY-DE 13 50588055 50588055 single base substitution C A 3_prime_UTR_variant MALY-DE 13 50588055 50588055 single base substitution C A downstream_gene_variant MALY-DE 13 50588055 50588055 single base substitution C A intron_variant MALY-DE 13 50589903 50589903 single base substitution C T 3_prime_UTR_variant MALY-DE 13 50589903 50589903 single base substitution C T downstream_gene_variant MALY-DE 13 50589903 50589903 single base substitution C T intron_variant MALY-DE 13 50591828 50591828 single base substitution G A 3_prime_UTR_variant MALY-DE 13 50591828 50591828 single base substitution G A downstream_gene_variant MALY-DE 13 50591828 50591828 single base substitution G A intron_variant MALY-DE 13 50595072 50595075 deletion of <=200bp ATTT - downstream_gene_variant MALY-DE 13 50598001 50598001 single base substitution C G downstream_gene_variant MELA-AU 13 50565205 50565206 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 13 50565673 50565676 deletion of <=200bp AATT - upstream_gene_variant MELA-AU 13 50566001 50566001 single base substitution C T upstream_gene_variant MELA-AU 13 50566096 50566096 single base substitution G A upstream_gene_variant MELA-AU 13 50568028 50568028 single base substitution G A upstream_gene_variant MELA-AU 13 50568660 50568660 single base substitution C T upstream_gene_variant MELA-AU 13 50569882 50569882 single base substitution T C upstream_gene_variant MELA-AU 13 50569967 50569967 single base substitution C T upstream_gene_variant MELA-AU 13 50570570 50570570 single base substitution G A intron_variant MELA-AU 13 50570570 50570570 single base substitution G A upstream_gene_variant MELA-AU 13 50572211 50572211 single base substitution C T intron_variant MELA-AU 13 50572211 50572211 single base substitution C T upstream_gene_variant MELA-AU 13 50573091 50573091 single base substitution T A intron_variant MELA-AU 13 50573091 50573091 single base substitution T A upstream_gene_variant MELA-AU 13 50573093 50573093 single base substitution T C intron_variant MELA-AU 13 50573093 50573093 single base substitution T C upstream_gene_variant MELA-AU 13 50573311 50573311 single base substitution G A intron_variant MELA-AU 13 50573311 50573311 single base substitution G A upstream_gene_variant MELA-AU 13 50573631 50573631 single base substitution C G intron_variant MELA-AU 13 50573631 50573631 single base substitution C G upstream_gene_variant MELA-AU 13 50575194 50575194 single base substitution G A 5_prime_UTR_variant MELA-AU 13 50575194 50575194 single base substitution G A intron_variant MELA-AU 13 50575194 50575194 single base substitution G A upstream_gene_variant MELA-AU 13 50576286 50576286 single base substitution G A intron_variant MELA-AU 13 50578607 50578607 single base substitution C A intron_variant MELA-AU 13 50579643 50579643 single base substitution C T intron_variant MELA-AU 13 50580103 50580103 single base substitution G A intron_variant MELA-AU 13 50581243 50581243 single base substitution C G intron_variant MELA-AU 13 50581341 50581341 single base substitution A T intron_variant MELA-AU 13 50582564 50582564 single base substitution G A intron_variant MELA-AU 13 50584213 50584213 single base substitution C G intron_variant MELA-AU 13 50585863 50585863 single base substitution G A intron_variant MELA-AU 13 50587781 50587781 single base substitution C T 3_prime_UTR_variant MELA-AU 13 50587781 50587781 single base substitution C T downstream_gene_variant MELA-AU 13 50587781 50587781 single base substitution C T intron_variant MELA-AU 13 50588023 50588023 single base substitution G A 3_prime_UTR_variant MELA-AU 13 50588023 50588023 single base substitution G A downstream_gene_variant MELA-AU 13 50588023 50588023 single base substitution G A intron_variant MELA-AU 13 50588620 50588620 single base substitution C T 3_prime_UTR_variant MELA-AU 13 50588620 50588620 single base substitution C T downstream_gene_variant MELA-AU 13 50588620 50588620 single base substitution C T intron_variant MELA-AU 13 50589510 50589510 single base substitution G C 3_prime_UTR_variant MELA-AU 13 50589510 50589510 single base substitution G C downstream_gene_variant MELA-AU 13 50589510 50589510 single base substitution G C intron_variant MELA-AU 13 50589836 50589836 single base substitution G A 3_prime_UTR_variant MELA-AU 13 50589836 50589836 single base substitution G A downstream_gene_variant MELA-AU 13 50589836 50589836 single base substitution G A intron_variant MELA-AU 13 50590537 50590537 single base substitution C T 3_prime_UTR_variant MELA-AU 13 50590537 50590537 single base substitution C T downstream_gene_variant MELA-AU 13 50590537 50590537 single base substitution C T intron_variant MELA-AU 13 50593882 50593882 single base substitution C T downstream_gene_variant MELA-AU 13 50593882 50593882 single base substitution C T intron_variant MELA-AU 13 50595430 50595430 single base substitution A C downstream_gene_variant MELA-AU 13 50595868 50595868 single base substitution G A downstream_gene_variant MELA-AU 13 50596404 50596404 single base substitution T C downstream_gene_variant MELA-AU 13 50596713 50596713 single base substitution G A downstream_gene_variant MELA-AU 13 50597049 50597049 single base substitution A G downstream_gene_variant MELA-AU 13 50597113 50597113 single base substitution A G downstream_gene_variant MELA-AU 13 50597259 50597259 single base substitution G A downstream_gene_variant MELA-AU 13 50597654 50597654 single base substitution C T downstream_gene_variant MELA-AU 13 50597921 50597921 single base substitution G A downstream_gene_variant MELA-AU 13 50598170 50598170 single base substitution G A downstream_gene_variant MELA-AU 13 50598665 50598665 single base substitution T A downstream_gene_variant ORCA-IN 13 50565652 50565652 single base substitution A C upstream_gene_variant ORCA-IN 13 50584540 50584540 single base substitution G A intron_variant ORCA-IN 13 50586324 50586324 single base substitution A G intron_variant ORCA-IN 13 50586324 50586324 single base substitution A G missense_variant N83S 248A>G ORCA-IN 13 50586324 50586324 single base substitution A G missense_variant N86S 257A>G ORCA-IN 13 50598064 50598064 single base substitution C T downstream_gene_variant OV-AU 13 50571314 50571314 single base substitution T G 5_prime_UTR_variant OV-AU 13 50571314 50571314 single base substitution T G intron_variant OV-AU 13 50571314 50571314 single base substitution T G upstream_gene_variant OV-AU 13 50585606 50585606 single base substitution C G intron_variant OV-AU 13 50587144 50587144 single base substitution C G downstream_gene_variant OV-AU 13 50587144 50587144 single base substitution C G intron_variant OV-AU 13 50587144 50587144 single base substitution C G synonymous_variant S356S 1068C>G OV-AU 13 50587144 50587144 single base substitution C G synonymous_variant S359S 1077C>G OV-US 13 50586659 50586659 single base substitution C T downstream_gene_variant OV-US 13 50586659 50586659 single base substitution C T intron_variant OV-US 13 50586659 50586659 single base substitution C T stop_gained Q195* 583C>T OV-US 13 50586659 50586659 single base substitution C T stop_gained Q198* 592C>T OV-US 13 50587277 50587277 single base substitution G T downstream_gene_variant OV-US 13 50587277 50587277 single base substitution G T intron_variant OV-US 13 50587277 50587277 single base substitution G T missense_variant V401L 1201G>T OV-US 13 50587277 50587277 single base substitution G T missense_variant V404L 1210G>T PACA-AU 13 50573449 50573449 single base substitution C T intron_variant PACA-AU 13 50573449 50573449 single base substitution C T upstream_gene_variant PACA-AU 13 50579743 50579743 single base substitution G A intron_variant PACA-AU 13 50581999 50581999 single base substitution A C intron_variant PACA-AU 13 50585072 50585072 single base substitution C T intron_variant PACA-AU 13 50593392 50593392 single base substitution A G downstream_gene_variant PACA-AU 13 50593392 50593392 single base substitution A G intron_variant PACA-AU 13 50595089 50595089 deletion of <=200bp T - downstream_gene_variant PACA-AU 13 50599377 50599377 single base substitution A G downstream_gene_variant PACA-CA 13 50565669 50565669 insertion of <=200bp - ATAAATAAATAG upstream_gene_variant PACA-CA 13 50565920 50565920 single base substitution C T upstream_gene_variant PACA-CA 13 50567827 50567827 single base substitution A C upstream_gene_variant PACA-CA 13 50569505 50569505 single base substitution C T upstream_gene_variant PACA-CA 13 50570092 50570092 single base substitution G A 5_prime_UTR_variant PACA-CA 13 50570092 50570092 single base substitution G A upstream_gene_variant PACA-CA 13 50570471 50570471 single base substitution C T intron_variant PACA-CA 13 50570471 50570471 single base substitution C T upstream_gene_variant PACA-CA 13 50572094 50572094 single base substitution T A intron_variant PACA-CA 13 50572094 50572094 single base substitution T A upstream_gene_variant PACA-CA 13 50572459 50572459 single base substitution A G intron_variant PACA-CA 13 50572459 50572459 single base substitution A G upstream_gene_variant PACA-CA 13 50572813 50572813 single base substitution C T intron_variant PACA-CA 13 50572813 50572813 single base substitution C T upstream_gene_variant PACA-CA 13 50572935 50572935 single base substitution C T intron_variant PACA-CA 13 50572935 50572935 single base substitution C T upstream_gene_variant PACA-CA 13 50576153 50576153 single base substitution C G intron_variant PACA-CA 13 50582629 50582629 single base substitution C T intron_variant PACA-CA 13 50583845 50583845 single base substitution C G intron_variant PACA-CA 13 50584010 50584010 single base substitution A G intron_variant PACA-CA 13 50584122 50584122 single base substitution T C intron_variant PACA-CA 13 50589653 50589653 single base substitution T C 3_prime_UTR_variant PACA-CA 13 50589653 50589653 single base substitution T C downstream_gene_variant PACA-CA 13 50589653 50589653 single base substitution T C intron_variant PACA-CA 13 50590765 50590765 single base substitution G A 3_prime_UTR_variant PACA-CA 13 50590765 50590765 single base substitution G A downstream_gene_variant PACA-CA 13 50590765 50590765 single base substitution G A intron_variant PACA-CA 13 50595348 50595348 single base substitution T C downstream_gene_variant PACA-CA 13 50597148 50597148 insertion of <=200bp - C downstream_gene_variant PAEN-AU 13 50598991 50598991 single base substitution A G downstream_gene_variant PAEN-IT 13 50584759 50584759 single base substitution A T intron_variant PBCA-DE 13 50570726 50570726 single base substitution G C 5_prime_UTR_variant PBCA-DE 13 50570726 50570726 single base substitution G C intron_variant PBCA-DE 13 50570726 50570726 single base substitution G C upstream_gene_variant PBCA-DE 13 50573687 50573687 single base substitution A T intron_variant PBCA-DE 13 50573687 50573687 single base substitution A T upstream_gene_variant PBCA-DE 13 50576720 50576720 single base substitution A G intron_variant PBCA-DE 13 50582634 50582634 single base substitution C T intron_variant PBCA-DE 13 50591519 50591519 single base substitution T G 3_prime_UTR_variant PBCA-DE 13 50591519 50591519 single base substitution T G downstream_gene_variant PBCA-DE 13 50591519 50591519 single base substitution T G intron_variant PBCA-DE 13 50596989 50596989 single base substitution T G downstream_gene_variant PBCA-DE 13 50597795 50597795 single base substitution T C downstream_gene_variant PRAD-CA 13 50587544 50587544 single base substitution G A 3_prime_UTR_variant PRAD-CA 13 50587544 50587544 single base substitution G A downstream_gene_variant PRAD-CA 13 50587544 50587544 single base substitution G A intron_variant PRAD-UK 13 50572350 50572350 single base substitution G T intron_variant PRAD-UK 13 50572350 50572350 single base substitution G T upstream_gene_variant PRAD-UK 13 50589153 50589153 single base substitution C G 3_prime_UTR_variant PRAD-UK 13 50589153 50589153 single base substitution C G downstream_gene_variant PRAD-UK 13 50589153 50589153 single base substitution C G intron_variant PRAD-UK 13 50598852 50598852 single base substitution T C downstream_gene_variant PRAD-US 13 50594457 50594457 single base substitution G T downstream_gene_variant PRAD-US 13 50594457 50594457 single base substitution G T exon_variant READ-US 13 50587560 50587560 deletion of <=200bp A - 3_prime_UTR_variant READ-US 13 50587560 50587560 deletion of <=200bp A - downstream_gene_variant READ-US 13 50587560 50587560 deletion of <=200bp A - intron_variant READ-US 13 50588496 50588496 insertion of <=200bp - ACACACAC 3_prime_UTR_variant READ-US 13 50588496 50588496 insertion of <=200bp - ACACACAC downstream_gene_variant READ-US 13 50588496 50588496 insertion of <=200bp - ACACACAC intron_variant READ-US 13 50588497 50588502 deletion of <=200bp ACACAC - 3_prime_UTR_variant READ-US 13 50588497 50588502 deletion of <=200bp ACACAC - downstream_gene_variant READ-US 13 50588497 50588502 deletion of <=200bp ACACAC - intron_variant READ-US 13 50589826 50589826 single base substitution G A 3_prime_UTR_variant READ-US 13 50589826 50589826 single base substitution G A downstream_gene_variant READ-US 13 50589826 50589826 single base substitution G A intron_variant RECA-EU 13 50577920 50577920 single base substitution A G intron_variant RECA-EU 13 50583887 50583887 single base substitution A C intron_variant RECA-EU 13 50583892 50583892 single base substitution A C intron_variant RECA-EU 13 50585200 50585200 single base substitution G A intron_variant SKCA-BR 13 50565643 50565643 insertion of <=200bp - AAAATAAATCAAT upstream_gene_variant SKCA-BR 13 50565652 50565652 single base substitution A C upstream_gene_variant SKCA-BR 13 50567344 50567344 single base substitution A G upstream_gene_variant SKCA-BR 13 50569508 50569508 single base substitution G A upstream_gene_variant SKCA-BR 13 50570891 50570891 single base substitution G A 5_prime_UTR_variant SKCA-BR 13 50570891 50570891 single base substitution G A intron_variant SKCA-BR 13 50570891 50570891 single base substitution G A upstream_gene_variant SKCA-BR 13 50574084 50574084 single base substitution G C intron_variant SKCA-BR 13 50574084 50574084 single base substitution G C upstream_gene_variant SKCA-BR 13 50578013 50578013 single base substitution A G intron_variant SKCA-BR 13 50578033 50578033 single base substitution C T intron_variant SKCA-BR 13 50578826 50578826 single base substitution G A intron_variant SKCA-BR 13 50580272 50580272 insertion of <=200bp - TAAA intron_variant SKCA-BR 13 50581331 50581331 single base substitution A C intron_variant SKCA-BR 13 50581624 50581624 insertion of <=200bp - CA intron_variant SKCA-BR 13 50581792 50581792 single base substitution C T intron_variant SKCA-BR 13 50583889 50583889 insertion of <=200bp - AC intron_variant SKCA-BR 13 50588496 50588496 insertion of <=200bp - TATATATACAC 3_prime_UTR_variant SKCA-BR 13 50588496 50588496 insertion of <=200bp - TATATATACAC downstream_gene_variant SKCA-BR 13 50588496 50588496 insertion of <=200bp - TATATATACAC intron_variant SKCA-BR 13 50589225 50589242 deletion of <=200bp AAAAAAATATATATATAT - 3_prime_UTR_variant SKCA-BR 13 50589225 50589242 deletion of <=200bp AAAAAAATATATATATAT - downstream_gene_variant SKCA-BR 13 50589225 50589242 deletion of <=200bp AAAAAAATATATATATAT - intron_variant SKCA-BR 13 50589228 50589256 deletion of <=200bp AAAATATATATATATATATATATATATAT - 3_prime_UTR_variant SKCA-BR 13 50589228 50589256 deletion of <=200bp AAAATATATATATATATATATATATATAT - downstream_gene_variant SKCA-BR 13 50589228 50589256 deletion of <=200bp AAAATATATATATATATATATATATATAT - intron_variant SKCA-BR 13 50589229 50589238 deletion of <=200bp AAATATATAT - 3_prime_UTR_variant SKCA-BR 13 50589229 50589238 deletion of <=200bp AAATATATAT - downstream_gene_variant SKCA-BR 13 50589229 50589238 deletion of <=200bp AAATATATAT - intron_variant SKCA-BR 13 50589229 50589252 deletion of <=200bp AAATATATATATATATATATATAT - 3_prime_UTR_variant SKCA-BR 13 50589229 50589252 deletion of <=200bp AAATATATATATATATATATATAT - downstream_gene_variant SKCA-BR 13 50589229 50589252 deletion of <=200bp AAATATATATATATATATATATAT - intron_variant SKCA-BR 13 50589239 50589239 single base substitution A T 3_prime_UTR_variant SKCA-BR 13 50589239 50589239 single base substitution A T downstream_gene_variant SKCA-BR 13 50589239 50589239 single base substitution A T intron_variant SKCA-BR 13 50589253 50589253 single base substitution A T 3_prime_UTR_variant SKCA-BR 13 50589253 50589253 single base substitution A T downstream_gene_variant SKCA-BR 13 50589253 50589253 single base substitution A T intron_variant SKCA-BR 13 50593832 50593832 single base substitution G C downstream_gene_variant SKCA-BR 13 50593832 50593832 single base substitution G C intron_variant SKCA-BR 13 50593857 50593857 single base substitution G A downstream_gene_variant SKCA-BR 13 50593857 50593857 single base substitution G A intron_variant SKCA-BR 13 50595099 50595099 single base substitution C T downstream_gene_variant SKCA-BR 13 50597197 50597197 single base substitution G A downstream_gene_variant SKCA-BR 13 50597324 50597324 single base substitution T A downstream_gene_variant SKCM-US 13 50586194 50586194 single base substitution G A intron_variant SKCM-US 13 50586194 50586194 single base substitution G A missense_variant G40R 118G>A SKCM-US 13 50586194 50586194 single base substitution G A missense_variant G43R 127G>A SKCM-US 13 50586282 50586282 single base substitution T C intron_variant SKCM-US 13 50586282 50586282 single base substitution T C missense_variant L69P 206T>C SKCM-US 13 50586282 50586282 single base substitution T C missense_variant L72P 215T>C SKCM-US 13 50586298 50586298 single base substitution C T intron_variant SKCM-US 13 50586298 50586298 single base substitution C T synonymous_variant S74S 222C>T SKCM-US 13 50586298 50586298 single base substitution C T synonymous_variant S77S 231C>T SKCM-US 13 50586631 50586631 single base substitution T A downstream_gene_variant SKCM-US 13 50586631 50586631 single base substitution T A intron_variant SKCM-US 13 50586631 50586631 single base substitution T A missense_variant F185L 555T>A SKCM-US 13 50586631 50586631 single base substitution T A missense_variant F188L 564T>A SKCM-US 13 50587148 50587148 single base substitution C T downstream_gene_variant SKCM-US 13 50587148 50587148 single base substitution C T intron_variant SKCM-US 13 50587148 50587148 single base substitution C T synonymous_variant L358L 1072C>T SKCM-US 13 50587148 50587148 single base substitution C T synonymous_variant L361L 1081C>T SKCM-US 13 50589841 50589841 single base substitution T A 3_prime_UTR_variant SKCM-US 13 50589841 50589841 single base substitution T A downstream_gene_variant SKCM-US 13 50589841 50589841 single base substitution T A intron_variant SKCM-US 13 50589901 50589901 single base substitution T G 3_prime_UTR_variant SKCM-US 13 50589901 50589901 single base substitution T G downstream_gene_variant SKCM-US 13 50589901 50589901 single base substitution T G intron_variant SKCM-US 13 50589914 50589914 single base substitution T A 3_prime_UTR_variant SKCM-US 13 50589914 50589914 single base substitution T A downstream_gene_variant SKCM-US 13 50589914 50589914 single base substitution T A intron_variant SKCM-US 13 50589959 50589959 single base substitution G A 3_prime_UTR_variant SKCM-US 13 50589959 50589959 single base substitution G A downstream_gene_variant SKCM-US 13 50589959 50589959 single base substitution G A intron_variant STAD-US 13 50586183 50586183 single base substitution G C intron_variant STAD-US 13 50586183 50586183 single base substitution G C missense_variant G36A 107G>C STAD-US 13 50586183 50586183 single base substitution G C missense_variant G39A 116G>C STAD-US 13 50586282 50586282 single base substitution T C intron_variant STAD-US 13 50586282 50586282 single base substitution T C missense_variant L69P 206T>C STAD-US 13 50586282 50586282 single base substitution T C missense_variant L72P 215T>C STAD-US 13 50586534 50586534 single base substitution G A downstream_gene_variant STAD-US 13 50586534 50586534 single base substitution G A intron_variant STAD-US 13 50586534 50586534 single base substitution G A missense_variant R153H 458G>A STAD-US 13 50586534 50586534 single base substitution G A missense_variant R156H 467G>A STAD-US 13 50587166 50587166 single base substitution T G downstream_gene_variant STAD-US 13 50587166 50587166 single base substitution T G intron_variant STAD-US 13 50587166 50587166 single base substitution T G missense_variant F364V 1090T>G STAD-US 13 50587166 50587166 single base substitution T G missense_variant F367V 1099T>G STAD-US 13 50589904 50589904 single base substitution G A 3_prime_UTR_variant STAD-US 13 50589904 50589904 single base substitution G A downstream_gene_variant STAD-US 13 50589904 50589904 single base substitution G A intron_variant STAD-US 13 50589942 50589942 single base substitution C A 3_prime_UTR_variant STAD-US 13 50589942 50589942 single base substitution C A downstream_gene_variant STAD-US 13 50589942 50589942 single base substitution C A intron_variant STAD-US 13 50590127 50590127 single base substitution G A 3_prime_UTR_variant STAD-US 13 50590127 50590127 single base substitution G A downstream_gene_variant STAD-US 13 50590127 50590127 single base substitution G A intron_variant STAD-US 13 50594527 50594527 single base substitution C T downstream_gene_variant STAD-US 13 50594527 50594527 single base substitution C T exon_variant THCA-SA 13 50590838 50590838 single base substitution C G 3_prime_UTR_variant THCA-SA 13 50590838 50590838 single base substitution C G downstream_gene_variant THCA-SA 13 50590838 50590838 single base substitution C G intron_variant THCA-SA 13 50592060 50592060 single base substitution T G 3_prime_UTR_variant THCA-SA 13 50592060 50592060 single base substitution T G downstream_gene_variant THCA-SA 13 50592060 50592060 single base substitution T G intron_variant THCA-SA 13 50592572 50592572 single base substitution T G 3_prime_UTR_variant THCA-SA 13 50592572 50592572 single base substitution T G downstream_gene_variant THCA-SA 13 50592572 50592572 single base substitution T G intron_variant THCA-US 13 50586828 50586828 single base substitution A G downstream_gene_variant THCA-US 13 50586828 50586828 single base substitution A G intron_variant THCA-US 13 50586828 50586828 single base substitution A G missense_variant Q251R 752A>G THCA-US 13 50586828 50586828 single base substitution A G missense_variant Q254R 761A>G UCEC-US 13 50586175 50586175 single base substitution C T intron_variant UCEC-US 13 50586175 50586175 single base substitution C T synonymous_variant C33C 99C>T UCEC-US 13 50586175 50586175 single base substitution C T synonymous_variant C36C 108C>T UCEC-US 13 50586283 50586283 single base substitution G A intron_variant UCEC-US 13 50586283 50586283 single base substitution G A synonymous_variant L69L 207G>A UCEC-US 13 50586283 50586283 single base substitution G A synonymous_variant L72L 216G>A UCEC-US 13 50586697 50586697 single base substitution G A downstream_gene_variant UCEC-US 13 50586697 50586697 single base substitution G A intron_variant UCEC-US 13 50586697 50586697 single base substitution G A missense_variant M207I 621G>A UCEC-US 13 50586697 50586697 single base substitution G A missense_variant M210I 630G>A UCEC-US 13 50586868 50586868 single base substitution A C downstream_gene_variant UCEC-US 13 50586868 50586868 single base substitution A C intron_variant UCEC-US 13 50586868 50586868 single base substitution A C missense_variant E264D 792A>C UCEC-US 13 50586868 50586868 single base substitution A C missense_variant E267D 801A>C UCEC-US 13 50587205 50587205 single base substitution G A downstream_gene_variant UCEC-US 13 50587205 50587205 single base substitution G A intron_variant UCEC-US 13 50587205 50587205 single base substitution G A missense_variant D377N 1129G>A UCEC-US 13 50587205 50587205 single base substitution G A missense_variant D380N 1138G>A UCEC-US 13 50589732 50589732 single base substitution T C 3_prime_UTR_variant UCEC-US 13 50589732 50589732 single base substitution T C downstream_gene_variant UCEC-US 13 50589732 50589732 single base substitution T C intron_variant UCEC-US 13 50589751 50589751 single base substitution A C 3_prime_UTR_variant UCEC-US 13 50589751 50589751 single base substitution A C downstream_gene_variant UCEC-US 13 50589751 50589751 single base substitution A C intron_variant UCEC-US 13 50589840 50589840 single base substitution T G 3_prime_UTR_variant UCEC-US 13 50589840 50589840 single base substitution T G downstream_gene_variant UCEC-US 13 50589840 50589840 single base substitution T G intron_variant UCEC-US 13 50589903 50589903 single base substitution C T 3_prime_UTR_variant UCEC-US 13 50589903 50589903 single base substitution C T downstream_gene_variant UCEC-US 13 50589903 50589903 single base substitution C T intron_variant UCEC-US 13 50590112 50590112 single base substitution G T 3_prime_UTR_variant UCEC-US 13 50590112 50590112 single base substitution G T downstream_gene_variant UCEC-US 13 50590112 50590112 single base substitution G T intron_variant UCEC-US 13 50590137 50590137 single base substitution A G 3_prime_UTR_variant UCEC-US 13 50590137 50590137 single base substitution A G downstream_gene_variant UCEC-US 13 50590137 50590137 single base substitution A G intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B5-A11R-01 COSM947917 c.621G>A p.M207I Substitution - Missense 13:50012561-50012561 + TCGA-D1-A103-01 COSM947916 c.207G>A p.L69L Substitution - coding silent 13:50012147-50012147 + NOKSI COSM4596088 c.403G>A p.E135K Substitution - Missense 13:50012334-50012334 + TCGA-04-1347-01 COSM79304 c.583C>T p.Q195* Substitution - Nonsense 13:50012523-50012523 + ESCC_77 COSM5635328 c.472C>G p.L158V Substitution - Missense 13:50012412-50012412 + TCGA-BF-A3DM-01 COSM3885408 c.1081C>T p.L361L Substitution - coding silent 13:50013012-50013012 + pfg016T COSM1639364 c.470G>A p.R157Q Substitution - Missense 13:50012401-50012401 + ESCC_77 COSM5635327 c.481C>G p.L161V Substitution - Missense 13:50012412-50012412 + BD105T COSM5514431 c.914_915insCATT p.F306fs*4 Insertion - Frameshift 13:50012854-50012855 + TCGA-EB-A4IS-01 COSM3469212 c.118G>A p.G40R Substitution - Missense 13:50012058-50012058 + TCGA-C8-A274-01 COSM5222165 c.1049G>A p.W350* Substitution - Nonsense 13:50012980-50012980 + TCGA-CD-A48C-01 COSM4047990 c.116G>C p.G39A Substitution - Missense 13:50012047-50012047 + PD24209a COSM5780980 c.436G>A p.E146K Substitution - Missense 13:50012367-50012367 + TCGA-EE-A2GC-06 COSM3469215 c.564T>A p.F188L Substitution - Missense 13:50012495-50012495 + Gp2D COSM4627207 c.748G>A p.V250I Substitution - Missense 13:50012679-50012679 + TCGA-B6-A40C-01 COSM4391309 c.299A>G p.Q100R Substitution - Missense 13:50012239-50012239 + TCGA-BF-A3DL-01 COSM4904459 c.222C>T p.S74S Substitution - coding silent 13:50012162-50012162 + BD105T COSM5514430 c.923_924insCATT p.F309fs*4 Insertion - Frameshift 13:50012854-50012855 + TCGA-D3-A2JO-06 COSM3469213 c.215T>C p.L72P Substitution - Missense 13:50012146-50012146 + ESCC_13 COSM5625116 c.13G>A p.E5K Substitution - Missense 13:50011953-50011953 + ESCC_BICR_041T COSM5441224 c.1138G>C p.D380H Substitution - Missense 13:50013069-50013069 + pfg212T COSM4755017 c.274C>T p.P92S Substitution - Missense 13:50012214-50012214 + TCGA-EE-A2GC-06 COSM3469216 c.555T>A p.F185L Substitution - Missense 13:50012495-50012495 + 1604875 COSM141412 c.1200T>A p.F400L Substitution - Missense 13:50013140-50013140 + RK170_C01 COSM1629139 c.246T>C p.Y82Y Substitution - coding silent 13:50012186-50012186 + ESO-0013 COSM1268510 c.13_15delGAA p.E6delE Deletion - In frame 13:50011953-50011955 + PD4844a COSM3355773 c.869_873delAAGAC p.E290fs*8 Deletion - Frameshift 13:50012800-50012804 + TCGA-C5-A1BK-01 COSM4826351 c.936G>T p.W312C Substitution - Missense 13:50012876-50012876 + BRC47 COSM5027775 c.1155C>G p.F385L Substitution - Missense 13:50013086-50013086 + TCGA-E2-A10C-01 COSM5227273 c.1159G>A p.E387K Substitution - Missense 13:50013090-50013090 + HCC6T COSM1607141 c.6T>A p.D2E Substitution - Missense 13:50011937-50011937 + ESCC_BICR_041T COSM5441225 c.1129G>C p.D377H Substitution - Missense 13:50013069-50013069 + NCI-H460 COSM1677668 c.611T>C p.F204S Substitution - Missense 13:50012551-50012551 + TCGA-AA-3848-01 COSM271811 c.460C>T p.R154W Substitution - Missense 13:50012400-50012400 + ESCC_13 COSM5625115 c.22G>A p.E8K Substitution - Missense 13:50011953-50011953 + TCGA-BH-A0AW-01 COSM5214608 c.1207_1208delTT p.F403fs*5 Deletion - Frameshift 13:50013138-50013139 + TCGA-DU-7010-01 COSM3968624 c.253A>G p.I85V Substitution - Missense 13:50012193-50012193 + TCGA-HW-7489-01 COSM3968622 c.4-1G>A p.? Unknown 13:50011934-50011934 + TCGA-AN-A046-01 COSM3813969 c.563T>G p.F188C Substitution - Missense 13:50012494-50012494 + TCGA-C8-A274-01 COSM1477273 c.1040G>A p.W347* Substitution - Nonsense 13:50012980-50012980 + PD4844a COSM3355774 c.860_864delAAGAC p.E287fs*8 Deletion - Frameshift 13:50012800-50012804 + NCI-H460 COSM1677667 c.620T>C p.F207S Substitution - Missense 13:50012551-50012551 + TCGA-BR-8680-01 COSM4047994 c.1099T>G p.F367V Substitution - Missense 13:50013030-50013030 + TCGA-EB-A4IS-01 COSM3469211 c.127G>A p.G43R Substitution - Missense 13:50012058-50012058 + T3446 COSM4735913 c.889C>T p.L297F Substitution - Missense 13:50012829-50012829 + TCGA-12-0618-01 COSM2153616 c.1006A>T p.T336S Substitution - Missense 13:50012937-50012937 + PD4844a COSM3355882 c.868_873GAAGAC>T p.E290fs*8 Complex - frameshift 13:50012799-50012804 + TCGA-BS-A0UF-01 COSM947918 c.792A>C p.E264D Substitution - Missense 13:50012732-50012732 + TCGA-CD-A4MG-01 COSM3469213 c.215T>C p.L72P Substitution - Missense 13:50012146-50012146 + sysucc-311T COSM5478550 c.258G>T p.K86N Substitution - Missense 13:50012198-50012198 + TCGA-B5-A11R-01 COSM947919 c.1129G>A p.D377N Substitution - Missense 13:50013069-50013069 + TCGA-C5-A1BK-01 COSM4826350 c.945G>T p.W315C Substitution - Missense 13:50012876-50012876 + 6T COSM3711095 c.257A>G p.N86S Substitution - Missense 13:50012188-50012188 + TCGA-BF-A3DL-01 COSM4904458 c.231C>T p.S77S Substitution - coding silent 13:50012162-50012162 + DN1401F COSM5961097 c.507G>A p.R169R Substitution - coding silent 13:50012447-50012447 + PD4844a COSM5802565 c.858_864GGAAGAC>GT p.E287fs*8 Complex - frameshift 13:50012798-50012804 + TCGA-13-0885-01 COSM76809 c.1201G>T p.V401L Substitution - Missense 13:50013141-50013141 + Gp5D COSM1942823 c.936G>A p.K312K Substitution - coding silent 13:50012867-50012867 + TCGA-D3-A2JO-06 COSM3469214 c.206T>C p.L69P Substitution - Missense 13:50012146-50012146 + S01022 COSM5665705 c.272C>T p.S91F Substitution - Missense 13:50012203-50012203 + TCGA-B6-A40C-01 COSM4391308 c.308A>G p.Q103R Substitution - Missense 13:50012239-50012239 + ODG10 COSM5731516 c.798delT p.L267fs*11 Deletion - Frameshift 13:50012738-50012738 + TCGA-AN-A046-01 COSM3813966 c.22C>T p.L8F Substitution - Missense 13:50011962-50011962 + TCGA-AN-A046-01 COSM3813970 c.554T>G p.F185C Substitution - Missense 13:50012494-50012494 + CSCC-56-T COSM4455077 c.660A>G p.P220P Substitution - coding silent 13:50012591-50012591 + ODG10 COSM5731515 c.807delT p.L270fs*11 Deletion - Frameshift 13:50012738-50012738 + ACINAR06 COSM1734750 c.398C>G p.S133C Substitution - Missense 13:50012329-50012329 + TCGA-CD-A4MG-01 COSM3469214 c.206T>C p.L69P Substitution - Missense 13:50012146-50012146 + ACINAR06 COSM1734751 c.389C>G p.S130C Substitution - Missense 13:50012329-50012329 + DN1401F COSM5961096 c.516G>A p.R172R Substitution - coding silent 13:50012447-50012447 + TCGA-12-0618-01 COSM2153617 c.997A>T p.T333S Substitution - Missense 13:50012937-50012937 + TCGA-CG-4455-01 COSM4047993 c.458G>A p.R153H Substitution - Missense 13:50012398-50012398 + sysucc-311T COSM5478549 c.267G>T p.K89N Substitution - Missense 13:50012198-50012198 + CSCC-56-T COSM4455078 c.651A>G p.P217P Substitution - coding silent 13:50012591-50012591 + 6T COSM3711096 c.248A>G p.N83S Substitution - Missense 13:50012188-50012188 + T3446 COSM4735912 c.898C>T p.L300F Substitution - Missense 13:50012829-50012829 + pfg016T COSM1639365 c.461G>A p.R154Q Substitution - Missense 13:50012401-50012401 + PD24209a COSM5780981 c.427G>A p.E143K Substitution - Missense 13:50012367-50012367 + TCGA-AN-A046-01 COSM3813968 c.445T>C p.F149L Substitution - Missense 13:50012385-50012385 + TCGA-BH-A0AW-01 COSM432476 c.1198_1199delTT p.F400fs*5 Deletion - Frameshift 13:50013138-50013139 + NOKSI COSM4596089 c.394G>A p.E132K Substitution - Missense 13:50012334-50012334 + TCGA-AN-A046-01 COSM3813965 c.31C>T p.L11F Substitution - Missense 13:50011962-50011962 + TCGA-CD-A48C-01 COSM4047991 c.107G>C p.G36A Substitution - Missense 13:50012047-50012047 + STC291 COSM5052194 c.1201G>T p.A401S Substitution - Missense 13:50013132-50013132 + ESCC_170 COSM5649181 c.201T>A p.N67K Substitution - Missense 13:50012141-50012141 + pfg119T COSM4755018 c.358T>C p.C120R Substitution - Missense 13:50012289-50012289 + PD4844a COSM5802564 c.867_873GGAAGAC>GT p.E290fs*8 Complex - frameshift 13:50012798-50012804 + TCGA-AN-A046-01 COSM3813967 c.454T>C p.F152L Substitution - Missense 13:50012385-50012385 + AOCS-105-1-9 COSM3957249 c.1068C>G p.S356S Substitution - coding silent 13:50013008-50013008 + I2L-P10-Tumor-Organoid COSM5362087 c.893C>A p.S298Y Substitution - Missense 13:50012833-50012833 + TCGA-E2-A10C-01 COSM432475 c.1150G>A p.E384K Substitution - Missense 13:50013090-50013090 + TCGA-ET-A3DV-01 COSM3369096 c.752A>G p.Q251R Substitution - Missense 13:50012692-50012692 + PD4844a COSM3355883 c.859_864GAAGAC>T p.E287fs*8 Complex - frameshift 13:50012799-50012804 + TCGA-ET-A3DV-01 COSM3369095 c.761A>G p.Q254R Substitution - Missense 13:50012692-50012692 + TCGA-D1-A103-01 COSM947915 c.99C>T p.C33C Substitution - coding silent 13:50012039-50012039 + OSCC-GB_00060111 COSM3711095 c.257A>G p.N86S Substitution - Missense 13:50012188-50012188 + Gp5D COSM1942824 c.927G>A p.K309K Substitution - coding silent 13:50012867-50012867 + TCGA-AG-A002-01 COSM264187 c.1161G>T p.K387N Substitution - Missense 13:50013101-50013101 + S01022 COSM5665706 c.263C>T p.S88F Substitution - Missense 13:50012203-50012203 + Gp2D COSM4627208 c.739G>A p.V247I Substitution - Missense 13:50012679-50012679 + pfg212T COSM4755016 c.283C>T p.P95S Substitution - Missense 13:50012214-50012214 + TCGA-DU-7010-01 COSM3968623 c.262A>G p.I88V Substitution - Missense 13:50012193-50012193 + ESCC_170 COSM5649180 c.210T>A p.N70K Substitution - Missense 13:50012141-50012141 + I2L-P10-Tumor-Organoid COSM5362086 c.902C>A p.S301Y Substitution - Missense 13:50012833-50012833 + ESCC_13 COSM5625118 c.129G>C p.R43R Substitution - coding silent 13:50012069-50012069 + TCGA-12-0618 COSM2153617 c.997A>T p.T333S Substitution - Missense 13:50012937-50012937 + TCGA-BF-A3DM-01 COSM3885409 c.1072C>T p.L358L Substitution - coding silent 13:50013012-50013012 + pfg119T COSM4755019 c.349T>C p.C117R Substitution - Missense 13:50012289-50012289 + STC291 COSM5052195 c.1192G>T p.A398S Substitution - Missense 13:50013132-50013132 + ESCC_13 COSM5625117 c.138G>C p.R46R Substitution - coding silent 13:50012069-50012069 + TCGA-12-0618 COSM2153616 c.1006A>T p.T336S Substitution - Missense 13:50012937-50012937 + BRC47 COSM5027776 c.1146C>G p.F382L Substitution - Missense 13:50013086-50013086 + TCGA-BR-8680-01 COSM4047995 c.1090T>G p.F364V Substitution - Missense 13:50013030-50013030 + AOCS-105-1-9 COSM3957248 c.1077C>G p.S359S Substitution - coding silent 13:50013008-50013008 + OSCC-GB_00060111 COSM3711096 c.248A>G p.N83S Substitution - Missense 13:50012188-50012188 + TCGA-CG-4455-01 COSM4047992 c.467G>A p.R156H Substitution - Missense 13:50012398-50012398 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.436922 13q14 605661 2421702|dbSNP|BC003579|A/G|coding|Gly65Arg|466|Candidate; 2421702|dbSNP|BC063407|A/G|coding|Gly65Arg|897|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.Q254R c.761A>G 13 50586828 THCA A T Missense p.T336S c.1006A>T 13 50587073 GBM C A 5-UTRSNV . c.1-3420C>A 13 50571822 HC C G Missense p.F385L c.1155C>G 13 50587222 BRCA C T Missense p.R157W c.469C>T 13 50586536 COREAD C T Nonsense p.Q198* c.592C>T 13 50586659 OV C T Synonymous p.L361L c.1081C>T 13 50587148 CM C T Synonymous p.S77S c.231C>T 13 50586298 CM GAAGAC T Frameshift p.E290Yfs*8 c.868_873delinsT 13 50586935 BRCA GAA - InFrameDeletion p.E9delE c.27_29delAGA 13 50586089 ESCA G A Missense p.D380N c.1138G>A 13 50587205 UCEC G A Missense p.M210I c.630G>A 13 50586697 UCEC G A Missense p.R156H c.467G>A 13 50586534 STAD G A Missense p.R157Q c.470G>A 13 50586537 STAD G A Nonsense p.W350* c.1049G>A 13 50587116 BRCA G A SpliceAcceptorSNV . c.4-1G>A 13 50586070 LGG G C Missense p.E247Q c.739G>C 13 50586806 HNSC G T Missense p.V404L c.1210G>T 13 50587277 OV T A Missense p.F188L c.564T>A 13 50586631 CM T C Missense p.L72P c.215T>C 13 50586282 CM TT - Frameshift p.F403Cfs*5 c.1208_1209delTT 13 50587274 BRCA