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 6 37328321 37328321 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr6:37328321G>A c.211G>A c.(211-213)Gag>Aag p.E71K BLCA 6 37328350 37328350 + Splice_Site SNP G G T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr6:37328350G>T c.240G>T c.(238-240)aaG>aaT p.K80N BLCA 6 37336788 37336788 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr6:37336788C>T c.769C>T c.(769-771)Ctg>Ttg p.L257L BLCA 6 37349008 37349008 + Missense_Mutation SNP G G T TCGA-GU-A767-01A-11D-A32B-08 TCGA-GU-A767-10A-01D-A329-08 g.chr6:37349008G>T c.1319G>T c.(1318-1320)tGt>tTt p.C440F BLCA 6 37358522 37358522 + Silent SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr6:37358522G>A c.1446G>A c.(1444-1446)aaG>aaA p.K482K BLCA 6 37358585 37358585 + 3'UTR SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr6:37358585G>A BLCA 6 37358594 37358594 + 3'UTR SNP G G T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr6:37358594G>T BRCA 6 37336594 37336594 + Missense_Mutation SNP A A G TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr6:37336594A>G c.575A>G c.(574-576)aAa>aGa p.K192R BRCA 6 37336598 37336598 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr6:37336598T>G c.579T>G c.(577-579)ggT>ggG p.G193G BRCA 6 37349063 37349063 + Silent SNP T T C TCGA-E9-A295-01A-11D-A16D-09 TCGA-E9-A295-10A-01D-A16D-09 g.chr6:37349063T>C c.1374T>C c.(1372-1374)aaT>aaC p.N458N COAD 6 37328339 37328339 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:37328339A>G c.229A>G c.(229-231)Atg>Gtg p.M77V COAD 6 37336522 37336522 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:37336522G>A c.503G>A c.(502-504)gGc>gAc p.G168D COAD 6 37336868 37336868 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr6:37336868G>T c.849G>T c.(847-849)aaG>aaT p.K283N COAD 6 37336868 37336868 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr6:37336868G>T c.849G>T c.(847-849)aaG>aaT p.K283N COAD 6 37344732 37344732 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:37344732G>A c.1159G>A c.(1159-1161)Gaa>Aaa p.E387K COAD 6 37349065 37349065 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:37349065A>C c.1376A>C c.(1375-1377)aAg>aCg p.K459T COAD 6 37358517 37358517 + Splice_Site SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:37358517G>A c.e8-1 COAD 6 37358529 37358529 + Missense_Mutation SNP T T C TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chr6:37358529T>C c.1453T>C c.(1453-1455)Ttc>Ctc p.F485L COAD 6 37358531 37358531 + Silent SNP C C T TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr6:37358531C>T c.1455C>T c.(1453-1455)ttC>ttT p.F485F COADREAD 6 37328339 37328339 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:37328339A>G c.229A>G c.(229-231)Atg>Gtg p.M77V COADREAD 6 37336522 37336522 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:37336522G>A c.503G>A c.(502-504)gGc>gAc p.G168D COADREAD 6 37336868 37336868 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr6:37336868G>T c.849G>T c.(847-849)aaG>aaT p.K283N COADREAD 6 37336868 37336868 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr6:37336868G>T c.849G>T c.(847-849)aaG>aaT p.K283N COADREAD 6 37344732 37344732 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr6:37344732G>A c.1159G>A c.(1159-1161)Gaa>Aaa p.E387K COADREAD 6 37349065 37349065 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:37349065A>C c.1376A>C c.(1375-1377)aAg>aCg p.K459T COADREAD 6 37358517 37358517 + Splice_Site SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:37358517G>A c.e8-1 COADREAD 6 37358529 37358529 + Missense_Mutation SNP T T C TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr6:37358529T>C c.1453T>C c.(1453-1455)Ttc>Ctc p.F485L COADREAD 6 37358529 37358529 + Missense_Mutation SNP T T C TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chr6:37358529T>C c.1453T>C c.(1453-1455)Ttc>Ctc p.F485L COADREAD 6 37358531 37358531 + Silent SNP C C T TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr6:37358531C>T c.1455C>T c.(1453-1455)ttC>ttT p.F485F ESCA 6 37342482 37342482 + Silent SNP C C T TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 g.chr6:37342482C>T c.1125C>T c.(1123-1125)acC>acT p.T375T GBM 6 37336605 37336605 + Missense_Mutation SNP G G A TCGA-06-0124-01A-01D-1490-08 TCGA-06-0124-10A-01D-1490-08 g.chr6:37336605G>A c.586G>A c.(586-588)Gcc>Acc p.A196T GBMLGG 6 37328321 37328321 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:37328321G>A c.211G>A c.(211-213)Gag>Aag p.E71K GBMLGG 6 37336605 37336605 + Missense_Mutation SNP G G A TCGA-06-0124-01A-01D-1490-08 TCGA-06-0124-10A-01D-1490-08 g.chr6:37336605G>A c.586G>A c.(586-588)Gcc>Acc p.A196T GBMLGG 6 37339288 37339288 + Splice_Site SNP G G T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 g.chr6:37339288G>T c.976G>T c.(976-978)Ggt>Tgt p.G326C HNSC 6 37342431 37342431 + Missense_Mutation SNP G G C TCGA-P3-A6T4-01A-11D-A34J-08 TCGA-P3-A6T4-10A-01D-A34M-08 g.chr6:37342431G>C c.1074G>C c.(1072-1074)aaG>aaC p.K358N HNSC 6 37342436 37342436 + Missense_Mutation SNP A A G TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 g.chr6:37342436A>G c.1079A>G c.(1078-1080)gAc>gGc p.D360G HNSC 6 37344706 37344708 + In_Frame_Del DEL AGA AGA - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr6:37344706_37344708delAGA c.1133_1135delAGA c.(1132-1137)gagaag>gag p.K379del HNSC 6 37344797 37344797 + Silent SNP A A G TCGA-CV-6951-01A-11D-1912-08 TCGA-CV-6951-10A-01D-1912-08 g.chr6:37344797A>G c.1224A>G c.(1222-1224)gaA>gaG p.E408E KICH 6 37336717 37336717 + Missense_Mutation SNP A A G TCGA-KN-8432-01A-11D-2310-10 TCGA-KN-8432-11A-01D-2311-10 g.chr6:37336717A>G c.698A>G c.(697-699)gAg>gGg p.E233G KIPAN 6 37336717 37336717 + Missense_Mutation SNP A A G TCGA-KN-8432-01A-11D-2310-10 TCGA-KN-8432-11A-01D-2311-10 g.chr6:37336717A>G c.698A>G c.(697-699)gAg>gGg p.E233G LGG 6 37328321 37328321 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:37328321G>A c.211G>A c.(211-213)Gag>Aag p.E71K LGG 6 37339288 37339288 + Splice_Site SNP G G T TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 g.chr6:37339288G>T c.976G>T c.(976-978)Ggt>Tgt p.G326C LIHC 6 37344709 37344709 + Missense_Mutation SNP A A G TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr6:37344709A>G c.1136A>G c.(1135-1137)aAg>aGg p.K379R LUAD 6 37336267 37336267 + Missense_Mutation SNP A A T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr6:37336267A>T c.248A>T c.(247-249)aAt>aTt p.N83I LUAD 6 37336320 37336320 + Missense_Mutation SNP C C T TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chr6:37336320C>T c.301C>T c.(301-303)Cat>Tat p.H101Y LUAD 6 37336424 37336424 + Silent SNP T T C TCGA-73-4659-01A-01D-1265-08 TCGA-73-4659-11A-01D-1265-08 g.chr6:37336424T>C c.405T>C c.(403-405)tgT>tgC p.C135C LUAD 6 37358601 37358601 + 3'UTR SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 g.chr6:37358601C>T LUSC 6 37328291 37328291 + Silent SNP C C A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 g.chr6:37328291C>A c.181C>A c.(181-183)Cga>Aga p.R61R LUSC 6 37344705 37344705 + Missense_Mutation SNP G G C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr6:37344705G>C c.1132G>C c.(1132-1134)Gag>Cag p.E378Q LUSC 6 37344705 37344705 + Nonsense_Mutation SNP G G T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr6:37344705G>T c.1132G>T c.(1132-1134)Gag>Tag p.E378* OV 6 37358531 37358531 + Silent SNP C C T TCGA-23-2072-01A-01W-0722-08 TCGA-23-2072-10A-01W-0722-08 g.chr6:37358531C>T c.1455C>T c.(1453-1455)ttC>ttT p.F485F PAAD 6 37336474 37336474 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:37336474C>T c.455C>T c.(454-456)aCt>aTt p.T152I PAAD 6 37348968 37348968 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:37348968A>G c.1279A>G c.(1279-1281)Atc>Gtc p.I427V PAAD 6 37349011 37349011 + Missense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 g.chr6:37349011G>A c.1322G>A c.(1321-1323)cGg>cAg p.R441Q PCPG 6 37328329 37328329 + Silent SNP A A G TCGA-QR-A70A-01A-11D-A35D-08 TCGA-QR-A70A-10A-01D-A35B-08 g.chr6:37328329A>G c.219A>G c.(217-219)caA>caG p.Q73Q PRAD 6 37336290 37336290 + Missense_Mutation SNP C C T TCGA-EJ-7793-01A-31D-2260-08 TCGA-EJ-7793-10A-01D-2260-08 g.chr6:37336290C>T c.271C>T c.(271-273)Cgt>Tgt p.R91C PRAD 6 37336452 37336453 + Frame_Shift_Ins INS - - A TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 g.chr6:37336452_37336453insA c.433_434insA c.(433-435)gaafs p.E145fs PRAD 6 37336834 37336834 + Missense_Mutation SNP A A G TCGA-HC-A4ZV-01A-11D-A26M-08 TCGA-HC-A4ZV-10A-01D-A26K-08 g.chr6:37336834A>G c.815A>G c.(814-816)aAt>aGt p.N272S READ 6 37358529 37358529 + Missense_Mutation SNP T T C TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr6:37358529T>C c.1453T>C c.(1453-1455)Ttc>Ctc p.F485L SKCM 6 37328278 37328278 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr6:37328278C>T c.168C>T c.(166-168)ccC>ccT p.P56P SKCM 6 37336500 37336500 + Missense_Mutation SNP T T A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr6:37336500T>A c.481T>A c.(481-483)Tta>Ata p.L161I SKCM 6 37336636 37336636 + Missense_Mutation SNP A A G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr6:37336636A>G c.617A>G c.(616-618)aAg>aGg p.K206R SKCM 6 37336780 37336780 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr6:37336780C>T c.761C>T c.(760-762)tCc>tTc p.S254F SKCM 6 37336896 37336896 + Nonsense_Mutation SNP C C T TCGA-ER-A199-06A-11D-A197-08 TCGA-ER-A199-10A-01D-A199-08 g.chr6:37336896C>T c.877C>T c.(877-879)Cag>Tag p.Q293* SKCM 6 37342423 37342423 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr6:37342423C>T c.1066C>T c.(1066-1068)Cgc>Tgc p.R356C SKCM 6 37349002 37349002 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr6:37349002C>T c.1313C>T c.(1312-1314)cCc>cTc p.P438L SKCM 6 37349114 37349114 + Silent SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr6:37349114C>T c.1425C>T c.(1423-1425)ctC>ctT p.L475L SKCM 6 37358613 37358613 + 3'UTR SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr6:37358613G>A

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 37344809 37344809 single base substitution G T missense_variant E171D 513G>T ALL-US 6 37344809 37344809 single base substitution G T missense_variant E412D 1236G>T ALL-US 6 37344809 37344809 single base substitution G T splice_region_variant BLCA-US 6 37328321 37328321 single base substitution G A 3_prime_UTR_variant BLCA-US 6 37328321 37328321 single base substitution G A exon_variant BLCA-US 6 37328321 37328321 single base substitution G A missense_variant E14K 40G>A BLCA-US 6 37328321 37328321 single base substitution G A missense_variant E71K 211G>A BLCA-US 6 37328350 37328350 single base substitution G T missense_variant K23N 69G>T BLCA-US 6 37328350 37328350 single base substitution G T missense_variant K80N 240G>T BLCA-US 6 37328350 37328350 single base substitution G T splice_region_variant BLCA-US 6 37336788 37336788 single base substitution C T 3_prime_UTR_variant BLCA-US 6 37336788 37336788 single base substitution C T downstream_gene_variant BLCA-US 6 37336788 37336788 single base substitution C T exon_variant BLCA-US 6 37336788 37336788 single base substitution C T synonymous_variant L200L 598C>T BLCA-US 6 37336788 37336788 single base substitution C T synonymous_variant L257L 769C>T BLCA-US 6 37336788 37336788 single base substitution C T synonymous_variant L46L 136C>T BRCA-EU 6 37317045 37317045 single base substitution A G upstream_gene_variant BRCA-EU 6 37317718 37317718 single base substitution C G upstream_gene_variant BRCA-EU 6 37318629 37318629 single base substitution C G upstream_gene_variant BRCA-EU 6 37318659 37318659 single base substitution C T upstream_gene_variant BRCA-EU 6 37319218 37319218 single base substitution C A upstream_gene_variant BRCA-EU 6 37319318 37319318 single base substitution G C upstream_gene_variant BRCA-EU 6 37319386 37319386 single base substitution C T upstream_gene_variant BRCA-EU 6 37319480 37319480 single base substitution G C upstream_gene_variant BRCA-EU 6 37321383 37321383 single base substitution C T upstream_gene_variant BRCA-EU 6 37321781 37321781 single base substitution G A 5_prime_UTR_variant BRCA-EU 6 37321781 37321781 single base substitution G A upstream_gene_variant BRCA-EU 6 37322190 37322190 insertion of <=200bp - G intron_variant BRCA-EU 6 37323065 37323065 single base substitution C T intron_variant BRCA-EU 6 37324208 37324208 single base substitution A G intron_variant BRCA-EU 6 37324631 37324631 single base substitution C T intron_variant BRCA-EU 6 37326776 37326776 single base substitution G A intron_variant BRCA-EU 6 37327511 37327511 single base substitution A G intron_variant BRCA-EU 6 37328697 37328697 single base substitution G A intron_variant BRCA-EU 6 37329466 37329466 single base substitution C T intron_variant BRCA-EU 6 37330352 37330352 deletion of <=200bp C - intron_variant BRCA-EU 6 37331378 37331378 single base substitution C G intron_variant BRCA-EU 6 37331783 37331783 single base substitution G A intron_variant BRCA-EU 6 37331783 37331783 single base substitution G A upstream_gene_variant BRCA-EU 6 37332438 37332438 single base substitution C G intron_variant BRCA-EU 6 37332438 37332438 single base substitution C G upstream_gene_variant BRCA-EU 6 37332585 37332585 single base substitution T G intron_variant BRCA-EU 6 37332585 37332585 single base substitution T G upstream_gene_variant BRCA-EU 6 37332690 37332690 single base substitution C T intron_variant BRCA-EU 6 37332690 37332690 single base substitution C T upstream_gene_variant BRCA-EU 6 37332901 37332901 single base substitution G C intron_variant BRCA-EU 6 37332901 37332901 single base substitution G C upstream_gene_variant BRCA-EU 6 37335104 37335104 single base substitution G C intron_variant BRCA-EU 6 37335104 37335104 single base substitution G C upstream_gene_variant BRCA-EU 6 37336254 37336254 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 37336254 37336254 single base substitution C T downstream_gene_variant BRCA-EU 6 37336254 37336254 single base substitution C T intron_variant BRCA-EU 6 37336254 37336254 single base substitution C T splice_region_variant BRCA-EU 6 37336254 37336254 single base substitution C T upstream_gene_variant BRCA-EU 6 37339698 37339698 single base substitution C G downstream_gene_variant BRCA-EU 6 37339698 37339698 single base substitution C G intron_variant BRCA-EU 6 37340327 37340327 single base substitution G T downstream_gene_variant BRCA-EU 6 37340327 37340327 single base substitution G T intron_variant BRCA-EU 6 37340660 37340660 single base substitution G T downstream_gene_variant BRCA-EU 6 37340660 37340660 single base substitution G T intron_variant BRCA-EU 6 37341358 37341358 single base substitution A G downstream_gene_variant BRCA-EU 6 37341358 37341358 single base substitution A G intron_variant BRCA-EU 6 37341905 37341905 single base substitution T G downstream_gene_variant BRCA-EU 6 37341905 37341905 single base substitution T G intron_variant BRCA-EU 6 37342042 37342042 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 37342042 37342042 deletion of <=200bp A - intron_variant BRCA-EU 6 37342208 37342208 single base substitution C A downstream_gene_variant BRCA-EU 6 37342208 37342208 single base substitution C A intron_variant BRCA-EU 6 37343869 37343869 single base substitution G C intron_variant BRCA-EU 6 37345805 37345805 single base substitution C T intron_variant BRCA-EU 6 37346001 37346001 single base substitution C T intron_variant BRCA-EU 6 37346002 37346002 single base substitution G A intron_variant BRCA-EU 6 37346350 37346350 single base substitution A C intron_variant BRCA-EU 6 37346711 37346711 single base substitution T C intron_variant BRCA-EU 6 37351762 37351762 single base substitution C T intron_variant BRCA-EU 6 37352836 37352836 single base substitution C A intron_variant BRCA-EU 6 37353170 37353170 single base substitution G A intron_variant BRCA-EU 6 37353778 37353778 insertion of <=200bp - T intron_variant BRCA-EU 6 37354303 37354303 single base substitution G A intron_variant BRCA-EU 6 37354416 37354416 single base substitution T A intron_variant BRCA-EU 6 37354482 37354482 single base substitution G A intron_variant BRCA-EU 6 37354760 37354760 single base substitution C G intron_variant BRCA-EU 6 37355517 37355517 single base substitution C T intron_variant BRCA-EU 6 37355683 37355683 single base substitution G C intron_variant BRCA-EU 6 37355768 37355768 single base substitution T C intron_variant BRCA-EU 6 37356711 37356711 single base substitution T A intron_variant BRCA-EU 6 37356786 37356786 single base substitution C T intron_variant BRCA-EU 6 37357174 37357174 single base substitution T A intron_variant BRCA-EU 6 37357477 37357477 deletion of <=200bp G - intron_variant BRCA-EU 6 37358209 37358209 single base substitution G C intron_variant BRCA-EU 6 37358738 37358738 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 37359756 37359756 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 37359756 37359756 single base substitution G A downstream_gene_variant BRCA-EU 6 37361253 37361253 single base substitution C G 3_prime_UTR_variant BRCA-EU 6 37361253 37361253 single base substitution C G downstream_gene_variant BRCA-EU 6 37362429 37362429 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 37362429 37362429 single base substitution C T downstream_gene_variant BRCA-EU 6 37363569 37363569 single base substitution T C downstream_gene_variant BRCA-EU 6 37363766 37363766 single base substitution G A downstream_gene_variant BRCA-EU 6 37364968 37364968 single base substitution C T downstream_gene_variant BRCA-EU 6 37365225 37365225 single base substitution G C downstream_gene_variant BRCA-EU 6 37365664 37365664 single base substitution A G downstream_gene_variant BRCA-FR 6 37319480 37319480 single base substitution G C upstream_gene_variant BRCA-FR 6 37323065 37323065 single base substitution C T intron_variant BRCA-FR 6 37340302 37340302 single base substitution C T downstream_gene_variant BRCA-FR 6 37340302 37340302 single base substitution C T intron_variant BRCA-FR 6 37340660 37340660 single base substitution G T downstream_gene_variant BRCA-FR 6 37340660 37340660 single base substitution G T intron_variant BRCA-FR 6 37358940 37358940 single base substitution G C 3_prime_UTR_variant BRCA-FR 6 37358940 37358940 single base substitution G C downstream_gene_variant BRCA-FR 6 37362429 37362429 single base substitution C T 3_prime_UTR_variant BRCA-FR 6 37362429 37362429 single base substitution C T downstream_gene_variant BRCA-FR 6 37365225 37365225 single base substitution G C downstream_gene_variant BRCA-US 6 37336594 37336594 single base substitution A G 3_prime_UTR_variant BRCA-US 6 37336594 37336594 single base substitution A G downstream_gene_variant BRCA-US 6 37336594 37336594 single base substitution A G exon_variant BRCA-US 6 37336594 37336594 single base substitution A G missense_variant K135R 404A>G BRCA-US 6 37336594 37336594 single base substitution A G missense_variant K192R 575A>G BRCA-US 6 37336594 37336594 single base substitution A G upstream_gene_variant BRCA-US 6 37336598 37336598 single base substitution T G 3_prime_UTR_variant BRCA-US 6 37336598 37336598 single base substitution T G downstream_gene_variant BRCA-US 6 37336598 37336598 single base substitution T G exon_variant BRCA-US 6 37336598 37336598 single base substitution T G synonymous_variant G136G 408T>G BRCA-US 6 37336598 37336598 single base substitution T G synonymous_variant G193G 579T>G BRCA-US 6 37336598 37336598 single base substitution T G upstream_gene_variant BRCA-US 6 37349063 37349063 single base substitution T C 3_prime_UTR_variant BRCA-US 6 37349063 37349063 single base substitution T C intron_variant BRCA-US 6 37349063 37349063 single base substitution T C synonymous_variant N458N 1374T>C BTCA-JP 6 37336452 37336452 single base substitution G C 3_prime_UTR_variant BTCA-JP 6 37336452 37336452 single base substitution G C downstream_gene_variant BTCA-JP 6 37336452 37336452 single base substitution G C exon_variant BTCA-JP 6 37336452 37336452 single base substitution G C missense_variant E145Q 433G>C BTCA-JP 6 37336452 37336452 single base substitution G C missense_variant E88Q 262G>C BTCA-JP 6 37336452 37336452 single base substitution G C upstream_gene_variant CESC-US 6 37321864 37321864 single base substitution G A 5_prime_UTR_variant CESC-US 6 37321864 37321864 single base substitution G A exon_variant CESC-US 6 37321864 37321864 single base substitution G A upstream_gene_variant CESC-US 6 37329002 37329002 single base substitution G C intron_variant CLLE-ES 6 37319018 37319018 single base substitution A G upstream_gene_variant CLLE-ES 6 37340725 37340725 single base substitution A G downstream_gene_variant CLLE-ES 6 37340725 37340725 single base substitution A G intron_variant CLLE-ES 6 37347994 37347994 single base substitution G A intron_variant COAD-US 6 37336522 37336522 single base substitution G A 3_prime_UTR_variant COAD-US 6 37336522 37336522 single base substitution G A downstream_gene_variant COAD-US 6 37336522 37336522 single base substitution G A exon_variant COAD-US 6 37336522 37336522 single base substitution G A missense_variant G111D 332G>A COAD-US 6 37336522 37336522 single base substitution G A missense_variant G168D 503G>A COAD-US 6 37336522 37336522 single base substitution G A upstream_gene_variant COAD-US 6 37336650 37336650 single base substitution G C 3_prime_UTR_variant COAD-US 6 37336650 37336650 single base substitution G C downstream_gene_variant COAD-US 6 37336650 37336650 single base substitution G C exon_variant COAD-US 6 37336650 37336650 single base substitution G C missense_variant E154Q 460G>C COAD-US 6 37336650 37336650 single base substitution G C missense_variant E211Q 631G>C COAD-US 6 37336650 37336650 single base substitution G C upstream_gene_variant COAD-US 6 37336868 37336868 single base substitution G T 3_prime_UTR_variant COAD-US 6 37336868 37336868 single base substitution G T downstream_gene_variant COAD-US 6 37336868 37336868 single base substitution G T exon_variant COAD-US 6 37336868 37336868 single base substitution G T missense_variant K283N 849G>T COAD-US 6 37336868 37336868 single base substitution G T missense_variant K72N 216G>T COAD-US 6 37344732 37344732 single base substitution G A 3_prime_UTR_variant COAD-US 6 37344732 37344732 single base substitution G A missense_variant E146K 436G>A COAD-US 6 37344732 37344732 single base substitution G A missense_variant E387K 1159G>A COAD-US 6 37358566 37358566 single base substitution C A 3_prime_UTR_variant COAD-US 6 37358566 37358566 single base substitution C A missense_variant P188T 562C>A COAD-US 6 37358566 37358566 single base substitution C A missense_variant P429T 1285C>A COCA-CN 6 37341345 37341345 single base substitution A G downstream_gene_variant COCA-CN 6 37341345 37341345 single base substitution A G intron_variant COCA-CN 6 37344830 37344830 single base substitution A C intron_variant EOPC-DE 6 37322198 37322198 single base substitution T G intron_variant EOPC-DE 6 37324980 37324980 single base substitution G A intron_variant EOPC-DE 6 37343179 37343179 single base substitution C T intron_variant ESAD-UK 6 37318548 37318548 single base substitution C A upstream_gene_variant ESAD-UK 6 37319572 37319572 single base substitution A C upstream_gene_variant ESAD-UK 6 37321816 37321816 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 6 37321816 37321816 single base substitution C T upstream_gene_variant ESAD-UK 6 37325712 37325712 single base substitution C T intron_variant ESAD-UK 6 37325974 37325974 single base substitution C A intron_variant ESAD-UK 6 37326943 37326943 single base substitution T G intron_variant ESAD-UK 6 37327695 37327695 single base substitution T A intron_variant ESAD-UK 6 37328956 37328956 single base substitution A T intron_variant ESAD-UK 6 37330339 37330339 single base substitution C A intron_variant ESAD-UK 6 37332722 37332722 single base substitution T G intron_variant ESAD-UK 6 37332722 37332722 single base substitution T G upstream_gene_variant ESAD-UK 6 37335423 37335423 single base substitution G A intron_variant ESAD-UK 6 37335423 37335423 single base substitution G A upstream_gene_variant ESAD-UK 6 37335784 37335784 deletion of <=200bp T - intron_variant ESAD-UK 6 37335784 37335784 deletion of <=200bp T - upstream_gene_variant ESAD-UK 6 37341838 37341838 single base substitution C T downstream_gene_variant ESAD-UK 6 37341838 37341838 single base substitution C T intron_variant ESAD-UK 6 37347747 37347747 single base substitution T A intron_variant ESAD-UK 6 37351455 37351455 single base substitution T G intron_variant ESAD-UK 6 37352861 37352861 single base substitution C T intron_variant ESAD-UK 6 37357074 37357074 single base substitution T C intron_variant ESAD-UK 6 37357409 37357409 single base substitution C T intron_variant ESAD-UK 6 37357477 37357477 deletion of <=200bp G - intron_variant ESAD-UK 6 37357618 37357618 single base substitution G A intron_variant ESAD-UK 6 37359475 37359475 single base substitution C G 3_prime_UTR_variant ESAD-UK 6 37359475 37359475 single base substitution C G downstream_gene_variant ESAD-UK 6 37363106 37363106 single base substitution G T downstream_gene_variant ESAD-UK 6 37365781 37365781 single base substitution C A downstream_gene_variant ESAD-UK 6 37366597 37366597 single base substitution G A downstream_gene_variant ESAD-UK 6 37366758 37366758 single base substitution A C downstream_gene_variant ESCA-CN 6 37329001 37329001 single base substitution A G intron_variant ESCA-CN 6 37358536 37358536 single base substitution G C 3_prime_UTR_variant ESCA-CN 6 37358536 37358536 single base substitution G C missense_variant D178H 532G>C ESCA-CN 6 37358536 37358536 single base substitution G C missense_variant D419H 1255G>C GBM-US 6 37336605 37336605 single base substitution G A 3_prime_UTR_variant GBM-US 6 37336605 37336605 single base substitution G A downstream_gene_variant GBM-US 6 37336605 37336605 single base substitution G A exon_variant GBM-US 6 37336605 37336605 single base substitution G A missense_variant A139T 415G>A GBM-US 6 37336605 37336605 single base substitution G A missense_variant A196T 586G>A GBM-US 6 37336605 37336605 single base substitution G A upstream_gene_variant LAML-KR 6 37318154 37318154 single base substitution G A upstream_gene_variant LGG-US 6 37339288 37339288 single base substitution G T downstream_gene_variant LGG-US 6 37339288 37339288 single base substitution G T missense_variant G115C 343G>T LGG-US 6 37339288 37339288 single base substitution G T missense_variant G326C 976G>T LGG-US 6 37339288 37339288 single base substitution G T splice_region_variant LICA-FR 6 37339335 37339335 single base substitution C A 3_prime_UTR_variant LICA-FR 6 37339335 37339335 single base substitution C A downstream_gene_variant LICA-FR 6 37339335 37339335 single base substitution C A synonymous_variant A130A 390C>A LICA-FR 6 37339335 37339335 single base substitution C A synonymous_variant A341A 1023C>A LICA-FR 6 37351908 37351908 insertion of <=200bp - T intron_variant LIHC-US 6 37344709 37344709 single base substitution A G 3_prime_UTR_variant LIHC-US 6 37344709 37344709 single base substitution A G missense_variant K138R 413A>G LIHC-US 6 37344709 37344709 single base substitution A G missense_variant K379R 1136A>G LIHC-US 6 37349083 37349083 single base substitution G T 3_prime_UTR_variant LIHC-US 6 37349083 37349083 single base substitution G T intron_variant LIHC-US 6 37349083 37349083 single base substitution G T missense_variant S465I 1394G>T LINC-JP 6 37321855 37321855 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 6 37321855 37321855 single base substitution A G exon_variant LINC-JP 6 37321855 37321855 single base substitution A G upstream_gene_variant LINC-JP 6 37324128 37324128 single base substitution A T intron_variant LINC-JP 6 37355487 37355487 single base substitution T C intron_variant LINC-JP 6 37362407 37362407 single base substitution A G 3_prime_UTR_variant LINC-JP 6 37362407 37362407 single base substitution A G downstream_gene_variant LIRI-JP 6 37316907 37316907 single base substitution C T upstream_gene_variant LIRI-JP 6 37321929 37321929 single base substitution G A 5_prime_UTR_variant LIRI-JP 6 37321929 37321929 single base substitution G A exon_variant LIRI-JP 6 37321929 37321929 single base substitution G A intron_variant LIRI-JP 6 37329971 37329971 single base substitution C A intron_variant LIRI-JP 6 37330747 37330747 single base substitution G T intron_variant LIRI-JP 6 37330779 37330779 single base substitution C G intron_variant LIRI-JP 6 37333041 37333041 single base substitution A C intron_variant LIRI-JP 6 37333041 37333041 single base substitution A C upstream_gene_variant LIRI-JP 6 37333190 37333190 single base substitution T A intron_variant LIRI-JP 6 37333190 37333190 single base substitution T A upstream_gene_variant LIRI-JP 6 37335018 37335018 single base substitution C G intron_variant LIRI-JP 6 37335018 37335018 single base substitution C G upstream_gene_variant LIRI-JP 6 37338423 37338427 deletion of <=200bp TATCC - downstream_gene_variant LIRI-JP 6 37338423 37338427 deletion of <=200bp TATCC - intron_variant LIRI-JP 6 37339382 37339382 single base substitution G A downstream_gene_variant LIRI-JP 6 37339382 37339382 single base substitution G A intron_variant LIRI-JP 6 37341431 37341431 single base substitution G T downstream_gene_variant LIRI-JP 6 37341431 37341431 single base substitution G T intron_variant LIRI-JP 6 37341482 37341482 single base substitution C T downstream_gene_variant LIRI-JP 6 37341482 37341482 single base substitution C T intron_variant LIRI-JP 6 37347640 37347640 single base substitution T A intron_variant LIRI-JP 6 37349973 37349973 single base substitution T C intron_variant LIRI-JP 6 37350900 37350900 single base substitution C T intron_variant LIRI-JP 6 37353275 37353275 single base substitution C G intron_variant LIRI-JP 6 37355352 37355352 single base substitution A G intron_variant LIRI-JP 6 37356600 37356600 single base substitution T C intron_variant LIRI-JP 6 37360242 37360242 single base substitution G T 3_prime_UTR_variant LIRI-JP 6 37360242 37360242 single base substitution G T downstream_gene_variant LIRI-JP 6 37360586 37360586 single base substitution A G 3_prime_UTR_variant LIRI-JP 6 37360586 37360586 single base substitution A G downstream_gene_variant LIRI-JP 6 37361599 37361599 single base substitution T G 3_prime_UTR_variant LIRI-JP 6 37361599 37361599 single base substitution T G downstream_gene_variant LIRI-JP 6 37362617 37362617 single base substitution G A downstream_gene_variant LIRI-JP 6 37366928 37366928 single base substitution G A downstream_gene_variant LUSC-KR 6 37318137 37318137 single base substitution C T upstream_gene_variant LUSC-KR 6 37318154 37318154 single base substitution G A upstream_gene_variant LUSC-KR 6 37318983 37318983 single base substitution G C upstream_gene_variant LUSC-KR 6 37321051 37321051 single base substitution A G upstream_gene_variant LUSC-KR 6 37322371 37322371 single base substitution G C intron_variant LUSC-KR 6 37326915 37326915 single base substitution C T intron_variant LUSC-KR 6 37328282 37328282 single base substitution A G 3_prime_UTR_variant LUSC-KR 6 37328282 37328282 single base substitution A G exon_variant LUSC-KR 6 37328282 37328282 single base substitution A G missense_variant M58V 172A>G LUSC-KR 6 37328282 37328282 single base substitution A G start_lost M1V 1A>G LUSC-KR 6 37328398 37328398 single base substitution A T intron_variant LUSC-KR 6 37328454 37328454 single base substitution C T intron_variant LUSC-KR 6 37334367 37334367 single base substitution A T intron_variant LUSC-KR 6 37334367 37334367 single base substitution A T upstream_gene_variant LUSC-KR 6 37339382 37339382 single base substitution G T downstream_gene_variant LUSC-KR 6 37339382 37339382 single base substitution G T intron_variant LUSC-KR 6 37341968 37341968 single base substitution G T downstream_gene_variant LUSC-KR 6 37341968 37341968 single base substitution G T intron_variant LUSC-KR 6 37350190 37350190 single base substitution C T intron_variant LUSC-KR 6 37353685 37353685 single base substitution A T intron_variant LUSC-KR 6 37361745 37361745 single base substitution A G 3_prime_UTR_variant LUSC-KR 6 37361745 37361745 single base substitution A G downstream_gene_variant LUSC-KR 6 37365461 37365461 single base substitution C T downstream_gene_variant LUSC-US 6 37328291 37328291 single base substitution C A 3_prime_UTR_variant LUSC-US 6 37328291 37328291 single base substitution C A exon_variant LUSC-US 6 37328291 37328291 single base substitution C A synonymous_variant R4R 10C>A LUSC-US 6 37328291 37328291 single base substitution C A synonymous_variant R61R 181C>A LUSC-US 6 37344705 37344705 single base substitution G C 3_prime_UTR_variant LUSC-US 6 37344705 37344705 single base substitution G C missense_variant E137Q 409G>C LUSC-US 6 37344705 37344705 single base substitution G C missense_variant E378Q 1132G>C LUSC-US 6 37344705 37344705 single base substitution G T 3_prime_UTR_variant LUSC-US 6 37344705 37344705 single base substitution G T stop_gained E137* 409G>T LUSC-US 6 37344705 37344705 single base substitution G T stop_gained E378* 1132G>T MALY-DE 6 37317200 37317201 deletion of <=200bp AC - upstream_gene_variant MALY-DE 6 37317788 37317788 single base substitution T A upstream_gene_variant MALY-DE 6 37352396 37352396 single base substitution C T intron_variant MALY-DE 6 37353595 37353595 single base substitution T C intron_variant MALY-DE 6 37365490 37365490 single base substitution C G downstream_gene_variant MELA-AU 6 37317882 37317882 single base substitution C T upstream_gene_variant MELA-AU 6 37318649 37318649 single base substitution G A upstream_gene_variant MELA-AU 6 37319136 37319136 single base substitution T G upstream_gene_variant MELA-AU 6 37319324 37319324 single base substitution G A upstream_gene_variant MELA-AU 6 37319403 37319403 single base substitution C T upstream_gene_variant MELA-AU 6 37319419 37319420 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 37319421 37319421 single base substitution G A upstream_gene_variant MELA-AU 6 37319690 37319690 single base substitution C T upstream_gene_variant MELA-AU 6 37319960 37319960 single base substitution G A upstream_gene_variant MELA-AU 6 37320223 37320223 single base substitution C T upstream_gene_variant MELA-AU 6 37320418 37320418 single base substitution A G upstream_gene_variant MELA-AU 6 37320463 37320463 single base substitution G A upstream_gene_variant MELA-AU 6 37320534 37320534 single base substitution G A upstream_gene_variant MELA-AU 6 37320576 37320576 single base substitution C T upstream_gene_variant MELA-AU 6 37320688 37320688 single base substitution G A upstream_gene_variant MELA-AU 6 37320718 37320718 single base substitution C T upstream_gene_variant MELA-AU 6 37321036 37321036 single base substitution C T upstream_gene_variant MELA-AU 6 37321206 37321206 single base substitution G A upstream_gene_variant MELA-AU 6 37321345 37321345 single base substitution T A upstream_gene_variant MELA-AU 6 37322823 37322823 single base substitution G A intron_variant MELA-AU 6 37323341 37323341 single base substitution T C intron_variant MELA-AU 6 37323438 37323438 single base substitution G A intron_variant MELA-AU 6 37324164 37324164 single base substitution G A intron_variant MELA-AU 6 37324623 37324623 single base substitution T G intron_variant MELA-AU 6 37324711 37324711 single base substitution C T intron_variant MELA-AU 6 37324739 37324740 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 6 37325344 37325345 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 37325770 37325770 single base substitution C T intron_variant MELA-AU 6 37326907 37326907 single base substitution A C intron_variant MELA-AU 6 37327028 37327028 single base substitution T C 3_prime_UTR_variant MELA-AU 6 37327028 37327028 single base substitution T C intron_variant MELA-AU 6 37327282 37327282 single base substitution C T intron_variant MELA-AU 6 37327462 37327462 single base substitution C T intron_variant MELA-AU 6 37327470 37327470 single base substitution C T intron_variant MELA-AU 6 37328598 37328598 single base substitution C T intron_variant MELA-AU 6 37328843 37328844 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 37329030 37329030 single base substitution C T intron_variant MELA-AU 6 37329083 37329083 single base substitution C T intron_variant MELA-AU 6 37329127 37329127 single base substitution T G exon_variant MELA-AU 6 37329127 37329127 single base substitution T G intron_variant MELA-AU 6 37330117 37330117 single base substitution C T intron_variant MELA-AU 6 37330162 37330162 single base substitution T A intron_variant MELA-AU 6 37330166 37330166 single base substitution C T intron_variant MELA-AU 6 37330770 37330770 single base substitution C T intron_variant MELA-AU 6 37330905 37330905 single base substitution C T intron_variant MELA-AU 6 37330955 37330955 single base substitution C G intron_variant MELA-AU 6 37331213 37331213 single base substitution G A intron_variant MELA-AU 6 37331532 37331532 single base substitution G T intron_variant MELA-AU 6 37332408 37332408 single base substitution C T intron_variant MELA-AU 6 37332408 37332408 single base substitution C T upstream_gene_variant MELA-AU 6 37333205 37333205 single base substitution C T intron_variant MELA-AU 6 37333205 37333205 single base substitution C T upstream_gene_variant MELA-AU 6 37334599 37334599 deletion of <=200bp C - intron_variant MELA-AU 6 37334599 37334599 deletion of <=200bp C - upstream_gene_variant MELA-AU 6 37334633 37334633 single base substitution G A intron_variant MELA-AU 6 37334633 37334633 single base substitution G A upstream_gene_variant MELA-AU 6 37334696 37334711 deletion of <=200bp ATCCCAGCTGCACATG - intron_variant MELA-AU 6 37334696 37334711 deletion of <=200bp ATCCCAGCTGCACATG - upstream_gene_variant MELA-AU 6 37335197 37335198 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 37335197 37335198 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 37335210 37335210 single base substitution C T intron_variant MELA-AU 6 37335210 37335210 single base substitution C T upstream_gene_variant MELA-AU 6 37336315 37336315 single base substitution C T 3_prime_UTR_variant MELA-AU 6 37336315 37336315 single base substitution C T downstream_gene_variant MELA-AU 6 37336315 37336315 single base substitution C T exon_variant MELA-AU 6 37336315 37336315 single base substitution C T missense_variant S42F 125C>T MELA-AU 6 37336315 37336315 single base substitution C T missense_variant S99F 296C>T MELA-AU 6 37336315 37336315 single base substitution C T upstream_gene_variant MELA-AU 6 37336429 37336429 single base substitution C T 3_prime_UTR_variant MELA-AU 6 37336429 37336429 single base substitution C T downstream_gene_variant MELA-AU 6 37336429 37336429 single base substitution C T exon_variant MELA-AU 6 37336429 37336429 single base substitution C T missense_variant S137F 410C>T MELA-AU 6 37336429 37336429 single base substitution C T missense_variant S80F 239C>T MELA-AU 6 37336429 37336429 single base substitution C T upstream_gene_variant MELA-AU 6 37336430 37336430 single base substitution C T 3_prime_UTR_variant MELA-AU 6 37336430 37336430 single base substitution C T downstream_gene_variant MELA-AU 6 37336430 37336430 single base substitution C T exon_variant MELA-AU 6 37336430 37336430 single base substitution C T synonymous_variant S137S 411C>T MELA-AU 6 37336430 37336430 single base substitution C T synonymous_variant S80S 240C>T MELA-AU 6 37336430 37336430 single base substitution C T upstream_gene_variant MELA-AU 6 37336540 37336540 single base substitution C T 3_prime_UTR_variant MELA-AU 6 37336540 37336540 single base substitution C T downstream_gene_variant MELA-AU 6 37336540 37336540 single base substitution C T exon_variant MELA-AU 6 37336540 37336540 single base substitution C T missense_variant S117F 350C>T MELA-AU 6 37336540 37336540 single base substitution C T missense_variant S174F 521C>T MELA-AU 6 37336540 37336540 single base substitution C T upstream_gene_variant MELA-AU 6 37336711 37336723 deletion of <=200bp ATCATGAGCAGAA - 3_prime_UTR_variant MELA-AU 6 37336711 37336723 deletion of <=200bp ATCATGAGCAGAA - downstream_gene_variant MELA-AU 6 37336711 37336723 deletion of <=200bp ATCATGAGCAGAA - exon_variant MELA-AU 6 37336711 37336723 deletion of <=200bp ATCATGAGCAGAA - frameshift_variant HHEQK174 MELA-AU 6 37336711 37336723 deletion of <=200bp ATCATGAGCAGAA - frameshift_variant HHEQK20 MELA-AU 6 37336711 37336723 deletion of <=200bp ATCATGAGCAGAA - frameshift_variant HHEQK231 MELA-AU 6 37337029 37337029 single base substitution C T downstream_gene_variant MELA-AU 6 37337029 37337029 single base substitution C T intron_variant MELA-AU 6 37337183 37337183 single base substitution A T downstream_gene_variant MELA-AU 6 37337183 37337183 single base substitution A T intron_variant MELA-AU 6 37337501 37337501 single base substitution C T downstream_gene_variant MELA-AU 6 37337501 37337501 single base substitution C T intron_variant MELA-AU 6 37338374 37338374 single base substitution C T downstream_gene_variant MELA-AU 6 37338374 37338374 single base substitution C T intron_variant MELA-AU 6 37339081 37339082 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 6 37339081 37339082 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 6 37339124 37339124 single base substitution T C downstream_gene_variant MELA-AU 6 37339124 37339124 single base substitution T C intron_variant MELA-AU 6 37340275 37340275 single base substitution C T downstream_gene_variant MELA-AU 6 37340275 37340275 single base substitution C T intron_variant MELA-AU 6 37340353 37340353 single base substitution C T downstream_gene_variant MELA-AU 6 37340353 37340353 single base substitution C T intron_variant MELA-AU 6 37340565 37340565 single base substitution G A downstream_gene_variant MELA-AU 6 37340565 37340565 single base substitution G A intron_variant MELA-AU 6 37340714 37340714 single base substitution C T downstream_gene_variant MELA-AU 6 37340714 37340714 single base substitution C T intron_variant MELA-AU 6 37340855 37340855 single base substitution T C downstream_gene_variant MELA-AU 6 37340855 37340855 single base substitution T C intron_variant MELA-AU 6 37340907 37340907 single base substitution T C downstream_gene_variant MELA-AU 6 37340907 37340907 single base substitution T C intron_variant MELA-AU 6 37341053 37341053 single base substitution C T downstream_gene_variant MELA-AU 6 37341053 37341053 single base substitution C T intron_variant MELA-AU 6 37341177 37341177 single base substitution C T downstream_gene_variant MELA-AU 6 37341177 37341177 single base substitution C T intron_variant MELA-AU 6 37341213 37341213 single base substitution C T downstream_gene_variant MELA-AU 6 37341213 37341213 single base substitution C T intron_variant MELA-AU 6 37341670 37341670 single base substitution G A downstream_gene_variant MELA-AU 6 37341670 37341670 single base substitution G A intron_variant MELA-AU 6 37342051 37342051 single base substitution G A downstream_gene_variant MELA-AU 6 37342051 37342051 single base substitution G A intron_variant MELA-AU 6 37342367 37342367 single base substitution C T downstream_gene_variant MELA-AU 6 37342367 37342367 single base substitution C T intron_variant MELA-AU 6 37342803 37342803 single base substitution C T downstream_gene_variant MELA-AU 6 37342803 37342803 single base substitution C T intron_variant MELA-AU 6 37343728 37343728 single base substitution G A intron_variant MELA-AU 6 37344128 37344128 single base substitution C T intron_variant MELA-AU 6 37346527 37346527 single base substitution C T intron_variant MELA-AU 6 37346538 37346538 single base substitution C T intron_variant MELA-AU 6 37346539 37346539 single base substitution C T intron_variant MELA-AU 6 37346670 37346670 single base substitution C T intron_variant MELA-AU 6 37346761 37346761 single base substitution C T intron_variant MELA-AU 6 37346833 37346833 single base substitution C T intron_variant MELA-AU 6 37347619 37347619 single base substitution C T intron_variant MELA-AU 6 37347805 37347805 single base substitution C T intron_variant MELA-AU 6 37347865 37347865 single base substitution C T intron_variant MELA-AU 6 37348759 37348759 single base substitution C T intron_variant MELA-AU 6 37349464 37349464 single base substitution C G intron_variant MELA-AU 6 37349830 37349830 single base substitution C T intron_variant MELA-AU 6 37349831 37349831 single base substitution C T intron_variant MELA-AU 6 37350237 37350237 single base substitution A G intron_variant MELA-AU 6 37350279 37350279 single base substitution C T intron_variant MELA-AU 6 37350290 37350290 single base substitution C T intron_variant MELA-AU 6 37350292 37350292 single base substitution C T intron_variant MELA-AU 6 37350668 37350668 single base substitution C T intron_variant MELA-AU 6 37350935 37350935 single base substitution C T intron_variant MELA-AU 6 37351638 37351638 single base substitution C T intron_variant MELA-AU 6 37351786 37351786 single base substitution C T intron_variant MELA-AU 6 37352144 37352144 single base substitution C T intron_variant MELA-AU 6 37352319 37352319 single base substitution C T intron_variant MELA-AU 6 37352334 37352334 single base substitution C T intron_variant MELA-AU 6 37352338 37352338 single base substitution C T intron_variant MELA-AU 6 37352636 37352636 single base substitution C T intron_variant MELA-AU 6 37353158 37353158 single base substitution C T intron_variant MELA-AU 6 37353217 37353217 single base substitution A G intron_variant MELA-AU 6 37353551 37353551 single base substitution C T intron_variant MELA-AU 6 37353568 37353568 single base substitution T A intron_variant MELA-AU 6 37353714 37353714 single base substitution A G intron_variant MELA-AU 6 37354114 37354114 single base substitution C T intron_variant MELA-AU 6 37355418 37355418 single base substitution C T intron_variant MELA-AU 6 37355428 37355428 single base substitution C T intron_variant MELA-AU 6 37355595 37355595 single base substitution C T intron_variant MELA-AU 6 37355837 37355837 single base substitution G A intron_variant MELA-AU 6 37357303 37357304 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU 6 37358461 37358461 single base substitution C T intron_variant MELA-AU 6 37358984 37358984 single base substitution C T 3_prime_UTR_variant MELA-AU 6 37358984 37358984 single base substitution C T downstream_gene_variant MELA-AU 6 37359171 37359171 single base substitution C T 3_prime_UTR_variant MELA-AU 6 37359171 37359171 single base substitution C T downstream_gene_variant MELA-AU 6 37359523 37359523 single base substitution G A 3_prime_UTR_variant MELA-AU 6 37359523 37359523 single base substitution G A downstream_gene_variant MELA-AU 6 37359848 37359848 single base substitution C A 3_prime_UTR_variant MELA-AU 6 37359848 37359848 single base substitution C A downstream_gene_variant MELA-AU 6 37360397 37360397 single base substitution C T 3_prime_UTR_variant MELA-AU 6 37360397 37360397 single base substitution C T downstream_gene_variant MELA-AU 6 37361456 37361456 single base substitution G T 3_prime_UTR_variant MELA-AU 6 37361456 37361456 single base substitution G T downstream_gene_variant MELA-AU 6 37361967 37361967 single base substitution C T 3_prime_UTR_variant MELA-AU 6 37361967 37361967 single base substitution C T downstream_gene_variant MELA-AU 6 37362086 37362086 single base substitution C T 3_prime_UTR_variant MELA-AU 6 37362086 37362086 single base substitution C T downstream_gene_variant MELA-AU 6 37362246 37362246 single base substitution C T 3_prime_UTR_variant MELA-AU 6 37362246 37362246 single base substitution C T downstream_gene_variant MELA-AU 6 37362876 37362876 single base substitution T G downstream_gene_variant MELA-AU 6 37362932 37362932 single base substitution C T downstream_gene_variant MELA-AU 6 37363990 37363990 single base substitution C T downstream_gene_variant MELA-AU 6 37364475 37364475 single base substitution C T downstream_gene_variant MELA-AU 6 37364636 37364636 single base substitution G A downstream_gene_variant MELA-AU 6 37364824 37364824 single base substitution T C downstream_gene_variant MELA-AU 6 37364903 37364903 single base substitution G C downstream_gene_variant MELA-AU 6 37365154 37365154 single base substitution C T downstream_gene_variant MELA-AU 6 37365862 37365862 single base substitution C T downstream_gene_variant MELA-AU 6 37366332 37366332 single base substitution C T downstream_gene_variant MELA-AU 6 37366405 37366405 single base substitution G A downstream_gene_variant MELA-AU 6 37366411 37366411 single base substitution C T downstream_gene_variant MELA-AU 6 37366566 37366566 single base substitution G T downstream_gene_variant MELA-AU 6 37366631 37366631 single base substitution C T downstream_gene_variant MELA-AU 6 37366794 37366794 single base substitution C T downstream_gene_variant MELA-AU 6 37367220 37367220 single base substitution G A downstream_gene_variant MELA-AU 6 37367261 37367261 single base substitution G A downstream_gene_variant ORCA-IN 6 37330001 37330001 single base substitution G C intron_variant ORCA-IN 6 37336338 37336338 single base substitution C T 3_prime_UTR_variant ORCA-IN 6 37336338 37336338 single base substitution C T downstream_gene_variant ORCA-IN 6 37336338 37336338 single base substitution C T exon_variant ORCA-IN 6 37336338 37336338 single base substitution C T stop_gained Q107* 319C>T ORCA-IN 6 37336338 37336338 single base substitution C T stop_gained Q50* 148C>T ORCA-IN 6 37336338 37336338 single base substitution C T upstream_gene_variant ORCA-IN 6 37349010 37349010 single base substitution C T 3_prime_UTR_variant ORCA-IN 6 37349010 37349010 single base substitution C T intron_variant ORCA-IN 6 37349010 37349010 single base substitution C T missense_variant R441W 1321C>T OV-AU 6 37324380 37324380 single base substitution G T intron_variant OV-AU 6 37324545 37324545 single base substitution G A intron_variant OV-AU 6 37325466 37325466 single base substitution A C intron_variant OV-AU 6 37330607 37330607 single base substitution C G intron_variant OV-AU 6 37344047 37344047 single base substitution A G intron_variant OV-AU 6 37348563 37348563 single base substitution A G intron_variant OV-AU 6 37349188 37349188 single base substitution C T intron_variant OV-AU 6 37361964 37361964 single base substitution G A 3_prime_UTR_variant OV-AU 6 37361964 37361964 single base substitution G A downstream_gene_variant OV-AU 6 37362080 37362080 single base substitution C G 3_prime_UTR_variant OV-AU 6 37362080 37362080 single base substitution C G downstream_gene_variant PACA-AU 6 37321471 37321471 single base substitution C T upstream_gene_variant PACA-AU 6 37324363 37324363 single base substitution A C intron_variant PACA-AU 6 37325270 37325270 single base substitution T G intron_variant PACA-AU 6 37328834 37328834 single base substitution C T intron_variant PACA-AU 6 37330678 37330678 single base substitution T A intron_variant PACA-AU 6 37332607 37332607 single base substitution C T intron_variant PACA-AU 6 37332607 37332607 single base substitution C T upstream_gene_variant PACA-AU 6 37352504 37352504 single base substitution C G intron_variant PACA-AU 6 37355410 37355410 single base substitution G A intron_variant PACA-AU 6 37359636 37359636 single base substitution C T 3_prime_UTR_variant PACA-AU 6 37359636 37359636 single base substitution C T downstream_gene_variant PACA-CA 6 37320876 37320876 single base substitution G C upstream_gene_variant PACA-CA 6 37322190 37322190 deletion of <=200bp G - intron_variant PACA-CA 6 37328261 37328261 single base substitution G A 3_prime_UTR_variant PACA-CA 6 37328261 37328261 single base substitution G A 5_prime_UTR_variant PACA-CA 6 37328261 37328261 single base substitution G A exon_variant PACA-CA 6 37328261 37328261 single base substitution G A missense_variant V51I 151G>A PACA-CA 6 37335181 37335181 insertion of <=200bp - A intron_variant PACA-CA 6 37335181 37335181 insertion of <=200bp - A upstream_gene_variant PACA-CA 6 37338415 37338415 single base substitution T C downstream_gene_variant PACA-CA 6 37338415 37338415 single base substitution T C intron_variant PACA-CA 6 37339716 37339716 single base substitution C T downstream_gene_variant PACA-CA 6 37339716 37339716 single base substitution C T intron_variant PACA-CA 6 37340520 37340520 single base substitution C T downstream_gene_variant PACA-CA 6 37340520 37340520 single base substitution C T intron_variant PACA-CA 6 37341670 37341670 single base substitution G T downstream_gene_variant PACA-CA 6 37341670 37341670 single base substitution G T intron_variant PACA-CA 6 37346781 37346781 deletion of <=200bp T - intron_variant PACA-CA 6 37353756 37353756 single base substitution A G intron_variant PACA-CA 6 37354006 37354006 single base substitution G T intron_variant PACA-CA 6 37358576 37358576 single base substitution C T 3_prime_UTR_variant PACA-CA 6 37358576 37358576 single base substitution C T missense_variant A191V 572C>T PACA-CA 6 37358576 37358576 single base substitution C T missense_variant A432V 1295C>T PACA-CA 6 37359118 37359118 single base substitution T C 3_prime_UTR_variant PACA-CA 6 37359118 37359118 single base substitution T C downstream_gene_variant PACA-CA 6 37361296 37361296 single base substitution C G 3_prime_UTR_variant PACA-CA 6 37361296 37361296 single base substitution C G downstream_gene_variant PACA-CA 6 37363961 37363961 single base substitution G T downstream_gene_variant PACA-CA 6 37366797 37366797 single base substitution T C downstream_gene_variant PAEN-AU 6 37339899 37339899 single base substitution G A downstream_gene_variant PAEN-AU 6 37339899 37339899 single base substitution G A intron_variant PBCA-DE 6 37317200 37317201 deletion of <=200bp AC - upstream_gene_variant PBCA-DE 6 37322753 37322753 single base substitution C T intron_variant PBCA-DE 6 37325530 37325530 single base substitution G T intron_variant PBCA-DE 6 37332204 37332204 insertion of <=200bp - T intron_variant PBCA-DE 6 37332204 37332204 insertion of <=200bp - T upstream_gene_variant PBCA-DE 6 37334756 37334756 single base substitution G T intron_variant PBCA-DE 6 37334756 37334756 single base substitution G T upstream_gene_variant PBCA-DE 6 37335886 37335886 single base substitution G T intron_variant PBCA-DE 6 37335886 37335886 single base substitution G T upstream_gene_variant PBCA-DE 6 37337091 37337091 single base substitution C G downstream_gene_variant PBCA-DE 6 37337091 37337091 single base substitution C G intron_variant PBCA-DE 6 37350207 37350207 single base substitution C A intron_variant PBCA-DE 6 37361514 37361514 single base substitution G A 3_prime_UTR_variant PBCA-DE 6 37361514 37361514 single base substitution G A downstream_gene_variant PRAD-CA 6 37320418 37320418 single base substitution A G upstream_gene_variant PRAD-CA 6 37360925 37360925 single base substitution A G 3_prime_UTR_variant PRAD-CA 6 37360925 37360925 single base substitution A G downstream_gene_variant PRAD-UK 6 37319624 37319624 single base substitution G C upstream_gene_variant PRAD-UK 6 37319630 37319630 single base substitution G C upstream_gene_variant PRAD-UK 6 37321773 37321773 deletion of <=200bp T - 5_prime_UTR_variant PRAD-UK 6 37321773 37321773 deletion of <=200bp T - upstream_gene_variant PRAD-UK 6 37330138 37330138 single base substitution G A intron_variant PRAD-UK 6 37335642 37335642 single base substitution T G intron_variant PRAD-UK 6 37335642 37335642 single base substitution T G upstream_gene_variant PRAD-UK 6 37337441 37337441 single base substitution G T downstream_gene_variant PRAD-UK 6 37337441 37337441 single base substitution G T intron_variant PRAD-UK 6 37352894 37352894 single base substitution A G intron_variant PRAD-US 6 37336290 37336290 single base substitution C T 3_prime_UTR_variant PRAD-US 6 37336290 37336290 single base substitution C T downstream_gene_variant PRAD-US 6 37336290 37336290 single base substitution C T exon_variant PRAD-US 6 37336290 37336290 single base substitution C T missense_variant R34C 100C>T PRAD-US 6 37336290 37336290 single base substitution C T missense_variant R91C 271C>T PRAD-US 6 37336290 37336290 single base substitution C T upstream_gene_variant PRAD-US 6 37336834 37336834 single base substitution A G 3_prime_UTR_variant PRAD-US 6 37336834 37336834 single base substitution A G downstream_gene_variant PRAD-US 6 37336834 37336834 single base substitution A G exon_variant PRAD-US 6 37336834 37336834 single base substitution A G missense_variant N272S 815A>G PRAD-US 6 37336834 37336834 single base substitution A G missense_variant N61S 182A>G RECA-EU 6 37327264 37327264 single base substitution G T intron_variant RECA-EU 6 37336895 37336895 single base substitution T G 3_prime_UTR_variant RECA-EU 6 37336895 37336895 single base substitution T G downstream_gene_variant RECA-EU 6 37336895 37336895 single base substitution T G exon_variant RECA-EU 6 37336895 37336895 single base substitution T G synonymous_variant L292L 876T>G RECA-EU 6 37336895 37336895 single base substitution T G synonymous_variant L81L 243T>G RECA-EU 6 37337464 37337464 single base substitution T C downstream_gene_variant RECA-EU 6 37337464 37337464 single base substitution T C intron_variant RECA-EU 6 37341838 37341838 single base substitution C G downstream_gene_variant RECA-EU 6 37341838 37341838 single base substitution C G intron_variant RECA-EU 6 37347493 37347493 single base substitution T G intron_variant RECA-EU 6 37351113 37351113 single base substitution T A intron_variant RECA-EU 6 37352350 37352350 single base substitution G A intron_variant RECA-EU 6 37353700 37353700 single base substitution T C intron_variant RECA-EU 6 37354357 37354357 single base substitution G C intron_variant RECA-EU 6 37356801 37356801 single base substitution T G intron_variant RECA-EU 6 37358134 37358134 single base substitution G A intron_variant RECA-EU 6 37358136 37358136 single base substitution A T intron_variant SKCA-BR 6 37317927 37317927 single base substitution C T upstream_gene_variant SKCA-BR 6 37319740 37319740 single base substitution G A upstream_gene_variant SKCA-BR 6 37330292 37330296 deletion of <=200bp TTTAA - intron_variant SKCA-BR 6 37331585 37331585 single base substitution T C intron_variant SKCA-BR 6 37332802 37332802 single base substitution C T intron_variant SKCA-BR 6 37332802 37332802 single base substitution C T upstream_gene_variant SKCA-BR 6 37341391 37341391 single base substitution C G downstream_gene_variant SKCA-BR 6 37341391 37341391 single base substitution C G intron_variant SKCA-BR 6 37343771 37343771 single base substitution T G intron_variant SKCA-BR 6 37346376 37346376 insertion of <=200bp - CA intron_variant SKCA-BR 6 37347865 37347865 single base substitution C T intron_variant SKCA-BR 6 37350533 37350533 single base substitution A G intron_variant SKCA-BR 6 37362881 37362881 single base substitution C T downstream_gene_variant SKCA-BR 6 37366631 37366631 single base substitution C T downstream_gene_variant SKCM-US 6 37328278 37328278 single base substitution C T 3_prime_UTR_variant SKCM-US 6 37328278 37328278 single base substitution C T 5_prime_UTR_variant SKCM-US 6 37328278 37328278 single base substitution C T exon_variant SKCM-US 6 37328278 37328278 single base substitution C T synonymous_variant P56P 168C>T SKCM-US 6 37336500 37336500 single base substitution T A 3_prime_UTR_variant SKCM-US 6 37336500 37336500 single base substitution T A downstream_gene_variant SKCM-US 6 37336500 37336500 single base substitution T A exon_variant SKCM-US 6 37336500 37336500 single base substitution T A missense_variant L104I 310T>A SKCM-US 6 37336500 37336500 single base substitution T A missense_variant L161I 481T>A SKCM-US 6 37336500 37336500 single base substitution T A upstream_gene_variant SKCM-US 6 37336636 37336636 single base substitution A G 3_prime_UTR_variant SKCM-US 6 37336636 37336636 single base substitution A G downstream_gene_variant SKCM-US 6 37336636 37336636 single base substitution A G exon_variant SKCM-US 6 37336636 37336636 single base substitution A G missense_variant K149R 446A>G SKCM-US 6 37336636 37336636 single base substitution A G missense_variant K206R 617A>G SKCM-US 6 37336636 37336636 single base substitution A G upstream_gene_variant SKCM-US 6 37336780 37336780 single base substitution C T 3_prime_UTR_variant SKCM-US 6 37336780 37336780 single base substitution C T downstream_gene_variant SKCM-US 6 37336780 37336780 single base substitution C T exon_variant SKCM-US 6 37336780 37336780 single base substitution C T missense_variant S197F 590C>T SKCM-US 6 37336780 37336780 single base substitution C T missense_variant S254F 761C>T SKCM-US 6 37336780 37336780 single base substitution C T missense_variant S43F 128C>T SKCM-US 6 37336896 37336896 single base substitution C T 3_prime_UTR_variant SKCM-US 6 37336896 37336896 single base substitution C T downstream_gene_variant SKCM-US 6 37336896 37336896 single base substitution C T exon_variant SKCM-US 6 37336896 37336896 single base substitution C T stop_gained Q293* 877C>T SKCM-US 6 37336896 37336896 single base substitution C T stop_gained Q82* 244C>T SKCM-US 6 37342423 37342423 single base substitution C T 3_prime_UTR_variant SKCM-US 6 37342423 37342423 single base substitution C T downstream_gene_variant SKCM-US 6 37342423 37342423 single base substitution C T intron_variant SKCM-US 6 37342423 37342423 single base substitution C T missense_variant R356C 1066C>T SKCM-US 6 37349002 37349002 single base substitution C T 3_prime_UTR_variant SKCM-US 6 37349002 37349002 single base substitution C T intron_variant SKCM-US 6 37349002 37349002 single base substitution C T missense_variant P438L 1313C>T SKCM-US 6 37349114 37349114 single base substitution C T 3_prime_UTR_variant SKCM-US 6 37349114 37349114 single base substitution C T intron_variant SKCM-US 6 37349114 37349114 single base substitution C T synonymous_variant L475L 1425C>T STAD-US 6 37328304 37328304 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 6 37328304 37328304 deletion of <=200bp T - exon_variant STAD-US 6 37328304 37328304 deletion of <=200bp T - frameshift_variant V65 STAD-US 6 37328304 37328304 deletion of <=200bp T - frameshift_variant V8 STAD-US 6 37336407 37336407 single base substitution G C 3_prime_UTR_variant STAD-US 6 37336407 37336407 single base substitution G C downstream_gene_variant STAD-US 6 37336407 37336407 single base substitution G C exon_variant STAD-US 6 37336407 37336407 single base substitution G C missense_variant E130Q 388G>C STAD-US 6 37336407 37336407 single base substitution G C missense_variant E73Q 217G>C STAD-US 6 37336407 37336407 single base substitution G C upstream_gene_variant STAD-US 6 37336726 37336726 single base substitution C T 3_prime_UTR_variant STAD-US 6 37336726 37336726 single base substitution C T downstream_gene_variant STAD-US 6 37336726 37336726 single base substitution C T exon_variant STAD-US 6 37336726 37336726 single base substitution C T missense_variant A179V 536C>T STAD-US 6 37336726 37336726 single base substitution C T missense_variant A236V 707C>T STAD-US 6 37336726 37336726 single base substitution C T missense_variant A25V 74C>T STAD-US 6 37344811 37344811 single base substitution T G splice_donor_variant THCA-SA 6 37349066 37349066 single base substitution G A 3_prime_UTR_variant THCA-SA 6 37349066 37349066 single base substitution G A intron_variant THCA-SA 6 37349066 37349066 single base substitution G A synonymous_variant K459K 1377G>A UCEC-US 6 37336153 37336153 single base substitution G T intron_variant UCEC-US 6 37336153 37336153 single base substitution G T splice_acceptor_variant UCEC-US 6 37336153 37336153 single base substitution G T upstream_gene_variant UCEC-US 6 37336437 37336437 single base substitution A G 3_prime_UTR_variant UCEC-US 6 37336437 37336437 single base substitution A G downstream_gene_variant UCEC-US 6 37336437 37336437 single base substitution A G exon_variant UCEC-US 6 37336437 37336437 single base substitution A G missense_variant N140D 418A>G UCEC-US 6 37336437 37336437 single base substitution A G missense_variant N83D 247A>G UCEC-US 6 37336437 37336437 single base substitution A G upstream_gene_variant UCEC-US 6 37336764 37336764 single base substitution T C 3_prime_UTR_variant UCEC-US 6 37336764 37336764 single base substitution T C downstream_gene_variant UCEC-US 6 37336764 37336764 single base substitution T C exon_variant UCEC-US 6 37336764 37336764 single base substitution T C missense_variant F192L 574T>C UCEC-US 6 37336764 37336764 single base substitution T C missense_variant F249L 745T>C UCEC-US 6 37336764 37336764 single base substitution T C missense_variant F38L 112T>C UCEC-US 6 37336828 37336828 single base substitution T C 3_prime_UTR_variant UCEC-US 6 37336828 37336828 single base substitution T C downstream_gene_variant UCEC-US 6 37336828 37336828 single base substitution T C exon_variant UCEC-US 6 37336828 37336828 single base substitution T C missense_variant V270A 809T>C UCEC-US 6 37336828 37336828 single base substitution T C missense_variant V59A 176T>C UCEC-US 6 37336963 37336963 single base substitution A C 3_prime_UTR_variant UCEC-US 6 37336963 37336963 single base substitution A C downstream_gene_variant UCEC-US 6 37336963 37336963 single base substitution A C exon_variant UCEC-US 6 37336963 37336963 single base substitution A C missense_variant K104T 311A>C UCEC-US 6 37336963 37336963 single base substitution A C missense_variant K315T 944A>C UCEC-US 6 37336985 37336985 single base substitution G A 3_prime_UTR_variant UCEC-US 6 37336985 37336985 single base substitution G A downstream_gene_variant UCEC-US 6 37336985 37336985 single base substitution G A exon_variant UCEC-US 6 37336985 37336985 single base substitution G A synonymous_variant Q111Q 333G>A UCEC-US 6 37336985 37336985 single base substitution G A synonymous_variant Q322Q 966G>A UCEC-US 6 37339323 37339323 single base substitution G T 3_prime_UTR_variant UCEC-US 6 37339323 37339323 single base substitution G T downstream_gene_variant UCEC-US 6 37339323 37339323 single base substitution G T missense_variant K126N 378G>T UCEC-US 6 37339323 37339323 single base substitution G T missense_variant K337N 1011G>T UCEC-US 6 37344787 37344787 single base substitution T G 3_prime_UTR_variant UCEC-US 6 37344787 37344787 single base substitution T G missense_variant I164S 491T>G UCEC-US 6 37344787 37344787 single base substitution T G missense_variant I405S 1214T>G UCEC-US 6 37358552 37358552 single base substitution C T 3_prime_UTR_variant UCEC-US 6 37358552 37358552 single base substitution C T missense_variant A183V 548C>T UCEC-US 6 37358552 37358552 single base substitution C T missense_variant A424V 1271C>T UCEC-US 6 37358608 37358608 single base substitution G A 3_prime_UTR_variant UCEC-US 6 37358608 37358608 single base substitution G A missense_variant A202T 604G>A UCEC-US 6 37358608 37358608 single base substitution G A missense_variant A443T 1327G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T3446 COSM4722214 c.230T>C p.M77T Substitution - Missense 6:37360564-37360564 + CSCC-27-T COSM4493201 c.410C>T p.S137F Substitution - Missense 6:37368653-37368653 + OSCC-GB_00760111 COSM4887125 c.1321C>T p.R441W Substitution - Missense 6:37381234-37381234 + TCGA-DU-A5TW-01 COSM3928435 c.976G>T p.G326C Substitution - Missense 6:37371512-37371512 + EV002-R3 COSM1162055 c.670T>A p.F224I Substitution - Missense 6:37368913-37368913 + EV002-R9 COSM1162055 c.670T>A p.F224I Substitution - Missense 6:37368913-37368913 + AB COSM5414690 c.244C>G p.L82V Substitution - Missense 6:37368487-37368487 + H COSM5414690 c.244C>G p.L82V Substitution - Missense 6:37368487-37368487 + TCGA-HJ-7597-01 COSM3873587 c.707C>T p.A236V Substitution - Missense 6:37368950-37368950 + LUAD-F00257 COSM340260 c.1128G>T p.K376N Substitution - Missense 6:37374709-37374709 + CSCC-19-T COSM4504082 c.655C>T p.P219S Substitution - Missense 6:37368898-37368898 + TCGA-AA-A010-01 COSM284643 c.229A>G p.M77V Substitution - Missense 6:37360563-37360563 + EV002-R1 COSM1162055 c.670T>A p.F224I Substitution - Missense 6:37368913-37368913 + TCGA-CC-A7IH-01 COSM4923573 c.1394G>T p.S465I Substitution - Missense 6:37381307-37381307 + Patient1_Tu COSM1235704 c.1145T>C p.M382T Substitution - Missense 6:37376942-37376942 + BCB231T COSM4955755 c.1023C>A p.A341A Substitution - coding silent 6:37371559-37371559 + TCGA-DK-A2I4-01 COSM3777617 c.211G>A p.E71K Substitution - Missense 6:37360545-37360545 + TCGA-AA-3510-01 COSM1444139 c.849G>T p.K283N Substitution - Missense 6:37369092-37369092 + OSCC-GB_00410111 COSM3715486 c.319C>T p.Q107* Substitution - Nonsense 6:37368562-37368562 + S01366 COSM314863 c.241-3C>G p.? Unknown 6:37368481-37368481 + 4 COSM4333270 c.361G>T p.E121* Substitution - Nonsense 6:37368604-37368604 + TCGA-23-2072-01 COSM72465 c.1455C>T p.F485F Substitution - coding silent 6:37390755-37390755 + TCGA-AN-A046-01 COSM3830385 c.575A>G p.K192R Substitution - Missense 6:37368818-37368818 + Pat_27_B COSM5870532 c.1271C>T p.S424F Substitution - Missense 6:37381184-37381184 + TCGA-DD-A3A0-01 COSM4934786 c.1136A>G p.K379R Substitution - Missense 6:37376933-37376933 + ESO-0950 COSM1264407 c.301C>A p.H101N Substitution - Missense 6:37368544-37368544 + TCGA-AZ-4315-01 COSM1444141 c.1159G>A p.E387K Substitution - Missense 6:37376956-37376956 + 5853_CLM COSM5756850 c.433G>A p.E145K Substitution - Missense 6:37368676-37368676 + Au1 COSM3715486 c.319C>T p.Q107* Substitution - Nonsense 6:37368562-37368562 + TCGA-AX-A05Z-01 COSM1078662 c.1214T>G p.I405S Substitution - Missense 6:37377011-37377011 + EV002-R7 COSM1162055 c.670T>A p.F224I Substitution - Missense 6:37368913-37368913 + TCGA-D1-A103-01 COSM1078660 c.1011G>T p.K337N Substitution - Missense 6:37371547-37371547 + T3021 COSM4722217 c.1067G>A p.R356H Substitution - Missense 6:37374648-37374648 + TCGA-B5-A11E-01 COSM1078658 c.966G>A p.Q322Q Substitution - coding silent 6:37369209-37369209 + TCGA-ER-A199-06 COSM3626348 c.877C>T p.Q293* Substitution - Nonsense 6:37369120-37369120 + J11_T COSM3949143 c.172A>G p.M58V Substitution - Missense 6:37360506-37360506 + AA COSM5414690 c.244C>G p.L82V Substitution - Missense 6:37368487-37368487 + LUAD-CHTN-MAD06-00678 COSM360992 c.910G>T p.A304S Substitution - Missense 6:37369153-37369153 + PASLZM COSM5006449 c.1236G>T p.E412D Substitution - Missense 6:37377033-37377033 + TCGA-AD-5900-01 COSM5128883 c.124C>T p.R42* Substitution - Nonsense 6:37360458-37360458 + TCGA-FW-A3R5-06 COSM3921623 c.168C>T p.P56P Substitution - coding silent 6:37360502-37360502 + TCGA-06-0124-01 COSM2149254 c.586G>A p.A196T Substitution - Missense 6:37368829-37368829 + TCGA-A8-A0A6-01 COSM3830387 c.579T>G p.G193G Substitution - coding silent 6:37368822-37368822 + TCGA-CA-6718-01 COSM1444139 c.849G>T p.K283N Substitution - Missense 6:37369092-37369092 + CSCC-49-T COSM4517753 c.410_411CC>TT p.S137F Substitution - Missense 6:37368653-37368654 + TCGA-AX-A0J0-01 COSM1078652 c.745T>C p.F249L Substitution - Missense 6:37368988-37368988 + TCGA-D1-A16X-01 COSM1078650 c.418A>G p.N140D Substitution - Missense 6:37368661-37368661 + SNU-C2B COSM3076552 c.1355T>C p.V452A Substitution - Missense 6:37381268-37381268 + EWS502 COSM4586705 c.266G>A p.R89K Substitution - Missense 6:37368509-37368509 + 587376 COSM1224027 c.1415G>A p.R472Q Substitution - Missense 6:37381328-37381328 + TCGA-EJ-7793-01 COSM1472009 c.271C>T p.R91C Substitution - Missense 6:37368514-37368514 + TCGA-39-5030-01 COSM742147 c.1132G>T p.E378* Substitution - Nonsense 6:37376929-37376929 + S01366 COSM314863 c.241-3C>G p.? Unknown 6:37368481-37368481 + TCGA-HC-A4ZV-01 COSM3674701 c.815A>G p.N272S Substitution - Missense 6:37369058-37369058 + pfg017T COSM1643058 c.430A>G p.I144V Substitution - Missense 6:37368673-37368673 + TCGA-E9-A295-01 COSM1487712 c.1374T>C p.N458N Substitution - coding silent 6:37381287-37381287 + TCGA-EE-A3JD-06 COSM4397124 c.761C>T p.S254F Substitution - Missense 6:37369004-37369004 + Pat_15_B COSM5870533 c.1446G>C p.K482N Substitution - Missense 6:37390746-37390746 + PT37 COSM5919101 c.401C>T p.P134L Substitution - Missense 6:37368644-37368644 + TCGA-D1-A103-01 COSM1078654 c.809T>C p.V270A Substitution - Missense 6:37369052-37369052 + TCGA-D9-A6EC-06 COSM4404261 c.617A>G p.K206R Substitution - Missense 6:37368860-37368860 + pfg127T COSM4747001 c.233_235delACA p.N79delN Deletion - In frame 6:37360567-37360569 + TCGA-GN-A266-06 COSM3626346 c.481T>A p.L161I Substitution - Missense 6:37368724-37368724 + TCGA-AA-A02R-01 COSM5127452 c.370G>A p.V124I Substitution - Missense 6:37368613-37368613 + PD8610a COSM5800222 c.241-6C>T p.? Unknown 6:37368478-37368478 + TCGA-D9-A6EC-06 COSM4400097 c.1313C>T p.P438L Substitution - Missense 6:37381226-37381226 + TCGA-B5-A0K9-01 COSM1078664 c.1343C>G p.T448R Substitution - Missense 6:37381256-37381256 + C0032T COSM4155210 c.876T>G p.L292L Substitution - coding silent 6:37369119-37369119 + 41T COSM3715486 c.319C>T p.Q107* Substitution - Nonsense 6:37368562-37368562 + PCSI_0218_Pa_P_526 COSM3782061 c.151G>A p.V51I Substitution - Missense 6:37360485-37360485 + ATL039 COSM1472009 c.271C>T p.R91C Substitution - Missense 6:37368514-37368514 + Au4 COSM5604722 c.521C>T p.S174F Substitution - Missense 6:37368764-37368764 + TCGA-A3-3363-01 COSM1496324 c.178T>C p.S60P Substitution - Missense 6:37360512-37360512 + TCGA-BS-A0UV-01 COSM1078656 c.944A>C p.K315T Substitution - Missense 6:37369187-37369187 + BCB231T COSM4955755 c.1023C>A p.A341A Substitution - coding silent 6:37371559-37371559 + TCGA-AA-A010-01 COSM284644 c.1442-1G>A p.? Unknown 6:37390741-37390741 + TCGA-CM-4748-01 COSM3697829 c.631G>C p.E211Q Substitution - Missense 6:37368874-37368874 + TCGA-AZ-4315-01 COSM1444137 c.503G>A p.G168D Substitution - Missense 6:37368746-37368746 + PT48 COSM5931890 c.400C>T p.P134S Substitution - Missense 6:37368643-37368643 + 1_PRE-TREATMENT COSM1720282 c.597C>T p.P199P Substitution - coding silent 6:37368840-37368840 + C391 COSM4441817 c.1414C>T p.R472* Substitution - Nonsense 6:37381327-37381327 + TCGA-D7-A4YT-01 COSM3873585 c.388G>C p.E130Q Substitution - Missense 6:37368631-37368631 + TCGA-66-2785-01 COSM742145 c.1132G>C p.E378Q Substitution - Missense 6:37376929-37376929 + 002 COSM1162055 c.670T>A p.F224I Substitution - Missense 6:37368913-37368913 + S00936 COSM314862 c.353C>T p.A118V Substitution - Missense 6:37368596-37368596 + TCGA-06-0124 COSM2149254 c.586G>A p.A196T Substitution - Missense 6:37368829-37368829 + 31 COSM4441817 c.1414C>T p.R472* Substitution - Nonsense 6:37381327-37381327 + Region-29 COSM5748961 c.237C>A p.N79K Substitution - Missense 6:37360571-37360571 + TCGA-EE-A2GR-06 COSM3626350 c.1066C>T p.R356C Substitution - Missense 6:37374647-37374647 + CHEWS002 COSM4586707 c.433_434insA p.N147fs*2 Insertion - Frameshift 6:37368676-37368677 + TCGA-BT-A20J-01 COSM421336 c.240G>T p.K80N Substitution - Missense 6:37360574-37360574 + TCGA-CD-8531-01 COSM3873589 c.1236+2T>G p.? Unknown 6:37377035-37377035 + TCGA-18-3415-01 COSM742149 c.181C>A p.R61R Substitution - coding silent 6:37360515-37360515 + TCGA-FD-A3SS-01 COSM3777620 c.769C>T p.L257L Substitution - coding silent 6:37369012-37369012 + 1_RESISTANT COSM1720282 c.597C>T p.P199P Substitution - coding silent 6:37368840-37368840 + TCGA-DA-A1HV-06 COSM3626352 c.1425C>T p.L475L Substitution - coding silent 6:37381338-37381338 + Patient1_Tu COSM1235706 c.1187T>A p.V396E Substitution - Missense 6:37376984-37376984 + T127 COSM307549 c.812T>G p.M271R Substitution - Missense 6:37369055-37369055 + 145T COSM1725725 c.1230C>A p.F410L Substitution - Missense 6:37377027-37377027 + pfg181T COSM4746998 c.194delT p.L66fs*1 Deletion - Frameshift 6:37360528-37360528 + EV002-R6 COSM1162055 c.670T>A p.F224I Substitution - Missense 6:37368913-37368913 + CSCC-44-T COSM4502951 c.627C>T p.A209A Substitution - coding silent 6:37368870-37368870 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.485270;Hs.485278 6p21.3 611685

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.1038+1375A>G 6 37340725 CLL A G Missense p.I144V c.430A>G 6 37336449 STAD A G Missense p.N272S c.815A>G 6 37336834 PRAD A G Synonymous p.E408E c.1224A>G 6 37344797 HNSC C A Missense p.H101N c.301C>A 6 37336320 ESCA C A Synonymous p.R61R c.181C>A 6 37328291 LUSC C G IntronicSNV . c.241-3C>G 6 37336257 SCLC C T CdsStopSNV . c.1455C>T 6 37358531 OV C T Missense p.A118V c.353C>T 6 37336372 SCLC C T Missense p.H101Y c.301C>T 6 37336320 LUAD C T Missense p.R356C c.1066C>T 6 37342423 CM C T Missense p.R91C c.271C>T 6 37336290 PRAD C T Missense p.S254F c.761C>T 6 37336780 CM C T Nonsense p.Q293* c.877C>T 6 37336896 CM C T Synonymous p.L475L c.1425C>T 6 37349114 CM G A 3-UTRSNV . c.1455+5G>A 6 37358536 SCLC G A 3-UTRSNV . c.1455+77G>A 6 37358608 UCEC G A Missense p.A196T c.586G>A 6 37336605 GBM G A Missense p.E71K c.211G>A 6 37328321 BLCA G A Synonymous p.R441R c.1323G>A 6 37349012 CM G T 3-UTRSNV . c.1455+1711G>T 6 37360242 HC G T Missense p.K80N c.240G>T 6 37328350 BLCA G T Nonsense p.E378* c.1132G>T 6 37344705 LUSC T C Synonymous p.C135C c.405T>C 6 37336424 LUAD T C Synonymous p.N458N c.1374T>C 6 37349063 BRCA T G 3-UTRSNV . c.1455+3068T>G 6 37361599 HC