Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 7 99688715 99688715 + Missense_Mutation SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr7:99688715C>T c.589C>T c.(589-591)Cgc>Tgc p.R197C BLCA 7 99686983 99686983 + Silent SNP C C G TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 g.chr7:99686983C>G c.147C>G c.(145-147)ctC>ctG p.L49L BLCA 7 99688744 99688744 + Missense_Mutation SNP G G A TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr7:99688744G>A c.618G>A c.(616-618)atG>atA p.M206I BRCA 7 99687264 99687264 + Nonsense_Mutation SNP G G T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 g.chr7:99687264G>T c.229G>T c.(229-231)Gag>Tag p.E77* BRCA 7 99689093 99689093 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr7:99689093C>T c.793C>T c.(793-795)Cac>Tac p.H265Y CESC 7 99689397 99689397 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr7:99689397C>T c.969C>T c.(967-969)cgC>cgT p.R323R COAD 7 99686655 99686655 + Silent SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr7:99686655C>T c.42C>T c.(40-42)acC>acT p.T14T COAD 7 99687015 99687015 + Missense_Mutation SNP C C T TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr7:99687015C>T c.179C>T c.(178-180)tCc>tTc p.S60F COAD 7 99687348 99687348 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:99687348T>C c.313T>C c.(313-315)Tat>Cat p.Y105H COAD 7 99688230 99688230 + Missense_Mutation SNP G G A TCGA-AA-3655-01A-02D-1719-10 TCGA-AA-3655-11A-01D-1719-10 g.chr7:99688230G>A c.439G>A c.(439-441)Gag>Aag p.E147K COAD 7 99688711 99688711 + Silent SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr7:99688711G>A c.585G>A c.(583-585)gcG>gcA p.A195A COAD 7 99688874 99688874 + Silent SNP G G T TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr7:99688874G>T c.663G>T c.(661-663)ctG>ctT p.L221L COAD 7 99689333 99689333 + Missense_Mutation SNP T T C TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr7:99689333T>C c.905T>C c.(904-906)aTg>aCg p.M302T COADREAD 7 99686655 99686655 + Silent SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr7:99686655C>T c.42C>T c.(40-42)acC>acT p.T14T COADREAD 7 99687015 99687015 + Missense_Mutation SNP C C T TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr7:99687015C>T c.179C>T c.(178-180)tCc>tTc p.S60F COADREAD 7 99687348 99687348 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:99687348T>C c.313T>C c.(313-315)Tat>Cat p.Y105H COADREAD 7 99688230 99688230 + Missense_Mutation SNP G G A TCGA-AA-3655-01A-02D-1719-10 TCGA-AA-3655-11A-01D-1719-10 g.chr7:99688230G>A c.439G>A c.(439-441)Gag>Aag p.E147K COADREAD 7 99688711 99688711 + Silent SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr7:99688711G>A c.585G>A c.(583-585)gcG>gcA p.A195A COADREAD 7 99688874 99688874 + Silent SNP G G T TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr7:99688874G>T c.663G>T c.(661-663)ctG>ctT p.L221L COADREAD 7 99688890 99688890 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr7:99688890G>A c.679G>A c.(679-681)Gcc>Acc p.A227T COADREAD 7 99689333 99689333 + Missense_Mutation SNP T T C TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr7:99689333T>C c.905T>C c.(904-906)aTg>aCg p.M302T ESCA 7 99688230 99688230 + Nonsense_Mutation SNP G G T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 g.chr7:99688230G>T c.439G>T c.(439-441)Gag>Tag p.E147* ESCA 7 99688276 99688276 + Splice_Site SNP A A G TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 g.chr7:99688276A>G c.485A>G c.(484-486)gAt>gGt p.D162G ESCA 7 99688533 99688533 + Silent SNP C C T TCGA-LN-A49U-01A-31D-A27G-09 TCGA-LN-A49U-10A-01D-A27G-09 g.chr7:99688533C>T c.495C>T c.(493-495)gtC>gtT p.V165V GBMLGG 7 99688278 99688281 + Splice_Site DEL GTGA GTGA - TCGA-TQ-A7RN-01A-11D-A33T-08 TCGA-TQ-A7RN-10A-01D-A33W-08 g.chr7:99688278_99688281delGTGA c.e5+1 GBMLGG 7 99688570 99688570 + Nonsense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:99688570G>T c.532G>T c.(532-534)Gag>Tag p.E178* HNSC 7 99689087 99689087 + Missense_Mutation SNP C C G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 g.chr7:99689087C>G c.787C>G c.(787-789)Ctg>Gtg p.L263V KICH 7 99688529 99688529 + Missense_Mutation SNP C C A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr7:99688529C>A c.491C>A c.(490-492)cCt>cAt p.P164H KIPAN 7 99686979 99686979 + Missense_Mutation SNP T T C TCGA-5P-A9KE-01A-11D-A42J-10 TCGA-5P-A9KE-10A-01D-A42M-10 g.chr7:99686979T>C c.143T>C c.(142-144)aTt>aCt p.I48T KIPAN 7 99688529 99688529 + Missense_Mutation SNP C C A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr7:99688529C>A c.491C>A c.(490-492)cCt>cAt p.P164H KIPAN 7 99689085 99689086 + Frame_Shift_Del DEL CT CT - TCGA-AK-3461-01A-02D-1361-10 TCGA-AK-3461-10A-01D-1361-10 g.chr7:99689085_99689086delCT c.785_786delCT c.(784-786)gctfs p.A262fs KIRC 7 99689085 99689086 + Frame_Shift_Del DEL CT CT - TCGA-AK-3461-01A-02D-1361-10 TCGA-AK-3461-10A-01D-1361-10 g.chr7:99689085_99689086delCT c.785_786delCT c.(784-786)gctfs p.A262fs KIRP 7 99686979 99686979 + Missense_Mutation SNP T T C TCGA-5P-A9KE-01A-11D-A42J-10 TCGA-5P-A9KE-10A-01D-A42M-10 g.chr7:99686979T>C c.143T>C c.(142-144)aTt>aCt p.I48T LGG 7 99688278 99688281 + Splice_Site DEL GTGA GTGA - TCGA-TQ-A7RN-01A-11D-A33T-08 TCGA-TQ-A7RN-10A-01D-A33W-08 g.chr7:99688278_99688281delGTGA c.e5+1 LGG 7 99688570 99688570 + Nonsense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:99688570G>T c.532G>T c.(532-534)Gag>Tag p.E178* LIHC 7 99686935 99686935 + Silent SNP C C T TCGA-BC-A10U-01A-11D-A12Z-10 TCGA-BC-A10U-11A-11D-A12Z-10 g.chr7:99686935C>T c.99C>T c.(97-99)tgC>tgT p.C33C LIHC 7 99687281 99687281 + Frame_Shift_Del DEL G G - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr7:99687281delG c.246delG c.(244-246)gagfs p.E82fs LUAD 7 99688224 99688226 + In_Frame_Del DEL ATC ATC - TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr7:99688224_99688226delATC c.433_435delATC c.(433-435)atcdel p.I146del LUAD 7 99688551 99688551 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr7:99688551C>T c.513C>T c.(511-513)gtC>gtT p.V171V LUSC 7 99688910 99688910 + Silent SNP C C T TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 g.chr7:99688910C>T c.699C>T c.(697-699)agC>agT p.S233S OV 7 99689372 99689372 + Missense_Mutation SNP G G A TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 g.chr7:99689372G>A c.944G>A c.(943-945)cGa>cAa p.R315Q PAAD 7 99687011 99687011 + Missense_Mutation SNP C C T TCGA-US-A776-01A-13D-A33T-08 TCGA-US-A776-11A-11D-A33W-08 g.chr7:99687011C>T c.175C>T c.(175-177)Cgc>Tgc p.R59C PAAD 7 99688878 99688878 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:99688878G>T c.667G>T c.(667-669)Gca>Tca p.A223S PRAD 7 99686916 99686916 + Missense_Mutation SNP T T G TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 g.chr7:99686916T>G c.80T>G c.(79-81)gTc>gGc p.V27G PRAD 7 99686977 99686977 + Silent SNP C C G TCGA-CH-5794-01A-11D-1576-08 TCGA-CH-5794-10A-01D-1577-08 g.chr7:99686977C>G c.141C>G c.(139-141)gtC>gtG p.V47V PRAD 7 99688238 99688238 + Silent SNP C C T TCGA-G9-7523-01A-11D-2260-08 TCGA-G9-7523-10A-01D-2260-08 g.chr7:99688238C>T c.447C>T c.(445-447)ccC>ccT p.P149P READ 7 99688890 99688890 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr7:99688890G>A c.679G>A c.(679-681)Gcc>Acc p.A227T SKCM 7 99687270 99687270 + Silent SNP C C A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr7:99687270C>A c.235C>A c.(235-237)Cga>Aga p.R79R SKCM 7 99688740 99688740 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr7:99688740G>A c.614G>A c.(613-615)cGa>cAa p.R205Q SKCM 7 99689103 99689103 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr7:99689103C>G c.803C>G c.(802-804)cCg>cGg p.P268R

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 7 99686983 99686983 single base substitution C G exon_variant BLCA-US 7 99686983 99686983 single base substitution C G synonymous_variant L19L 57C>G BLCA-US 7 99686983 99686983 single base substitution C G synonymous_variant L48L 144C>G BLCA-US 7 99686983 99686983 single base substitution C G synonymous_variant L49L 147C>G BLCA-US 7 99686983 99686983 single base substitution C G upstream_gene_variant BRCA-EU 7 99682039 99682039 insertion of <=200bp - TA upstream_gene_variant BRCA-EU 7 99682352 99682352 single base substitution G T upstream_gene_variant BRCA-EU 7 99684652 99684652 single base substitution G C upstream_gene_variant BRCA-EU 7 99685111 99685111 single base substitution C A upstream_gene_variant BRCA-EU 7 99686471 99686471 single base substitution G C upstream_gene_variant BRCA-EU 7 99687861 99687861 single base substitution C T downstream_gene_variant BRCA-EU 7 99687861 99687861 single base substitution C T exon_variant BRCA-EU 7 99687861 99687861 single base substitution C T intron_variant BRCA-EU 7 99687861 99687861 single base substitution C T upstream_gene_variant BRCA-EU 7 99687875 99687875 single base substitution G A downstream_gene_variant BRCA-EU 7 99687875 99687875 single base substitution G A exon_variant BRCA-EU 7 99687875 99687875 single base substitution G A intron_variant BRCA-EU 7 99687875 99687875 single base substitution G A upstream_gene_variant BRCA-EU 7 99687897 99687897 insertion of <=200bp - GGAGGC downstream_gene_variant BRCA-EU 7 99687897 99687897 insertion of <=200bp - GGAGGC exon_variant BRCA-EU 7 99687897 99687897 insertion of <=200bp - GGAGGC intron_variant BRCA-EU 7 99687897 99687897 insertion of <=200bp - GGAGGC upstream_gene_variant BRCA-EU 7 99688620 99688620 single base substitution C T downstream_gene_variant BRCA-EU 7 99688620 99688620 single base substitution C T exon_variant BRCA-EU 7 99688620 99688620 single base substitution C T intron_variant BRCA-EU 7 99688866 99688866 single base substitution G A downstream_gene_variant BRCA-EU 7 99688866 99688866 single base substitution G A exon_variant BRCA-EU 7 99688866 99688866 single base substitution G A missense_variant E218K 652G>A BRCA-EU 7 99688866 99688866 single base substitution G A missense_variant E219K 655G>A BRCA-EU 7 99688945 99688945 single base substitution C G downstream_gene_variant BRCA-EU 7 99688945 99688945 single base substitution C G exon_variant BRCA-EU 7 99688945 99688945 single base substitution C G intron_variant BRCA-EU 7 99688945 99688945 single base substitution C G missense_variant S244C 731C>G BRCA-EU 7 99688945 99688945 single base substitution C G missense_variant S245C 734C>G BRCA-EU 7 99691963 99691963 single base substitution G A downstream_gene_variant BRCA-EU 7 99692443 99692443 single base substitution G C downstream_gene_variant BRCA-EU 7 99692802 99692805 deletion of <=200bp AAAT - downstream_gene_variant BRCA-EU 7 99693711 99693711 single base substitution C T downstream_gene_variant BRCA-EU 7 99693961 99693961 single base substitution C T downstream_gene_variant BRCA-EU 7 99694102 99694102 insertion of <=200bp - T downstream_gene_variant BRCA-EU 7 99694393 99694393 single base substitution C G downstream_gene_variant BRCA-EU 7 99694769 99694769 single base substitution C T downstream_gene_variant BRCA-EU 7 99694798 99694798 single base substitution C G downstream_gene_variant BRCA-FR 7 99686471 99686471 single base substitution G C upstream_gene_variant BRCA-FR 7 99692443 99692443 single base substitution G C downstream_gene_variant BRCA-FR 7 99693021 99693021 single base substitution C T downstream_gene_variant BRCA-UK 7 99682352 99682352 single base substitution G T upstream_gene_variant BRCA-US 7 99687264 99687264 single base substitution G T downstream_gene_variant BRCA-US 7 99687264 99687264 single base substitution G T exon_variant BRCA-US 7 99687264 99687264 single base substitution G T stop_gained E76* 226G>T BRCA-US 7 99687264 99687264 single base substitution G T stop_gained E77* 229G>T BRCA-US 7 99687264 99687264 single base substitution G T upstream_gene_variant BRCA-US 7 99688954 99688954 single base substitution G A downstream_gene_variant BRCA-US 7 99688954 99688954 single base substitution G A intron_variant BRCA-US 7 99688954 99688954 single base substitution G A splice_donor_variant BRCA-US 7 99689093 99689093 single base substitution C T 3_prime_UTR_variant BRCA-US 7 99689093 99689093 single base substitution C T downstream_gene_variant BRCA-US 7 99689093 99689093 single base substitution C T exon_variant BRCA-US 7 99689093 99689093 single base substitution C T missense_variant H264Y 790C>T BRCA-US 7 99689093 99689093 single base substitution C T missense_variant H265Y 793C>T BRCA-US 7 99690708 99690708 single base substitution G C downstream_gene_variant BRCA-US 7 99691263 99691263 single base substitution G T downstream_gene_variant BRCA-US 7 99691849 99691849 single base substitution T G downstream_gene_variant BTCA-JP 7 99687317 99687317 single base substitution G T downstream_gene_variant BTCA-JP 7 99687317 99687317 single base substitution G T exon_variant BTCA-JP 7 99687317 99687317 single base substitution G T synonymous_variant V93V 279G>T BTCA-JP 7 99687317 99687317 single base substitution G T synonymous_variant V94V 282G>T BTCA-JP 7 99687317 99687317 single base substitution G T upstream_gene_variant BTCA-JP 7 99687318 99687318 single base substitution G T downstream_gene_variant BTCA-JP 7 99687318 99687318 single base substitution G T exon_variant BTCA-JP 7 99687318 99687318 single base substitution G T stop_gained E94* 280G>T BTCA-JP 7 99687318 99687318 single base substitution G T stop_gained E95* 283G>T BTCA-JP 7 99687318 99687318 single base substitution G T upstream_gene_variant BTCA-JP 7 99690660 99690660 single base substitution T C downstream_gene_variant BTCA-JP 7 99690664 99690664 deletion of <=200bp C - downstream_gene_variant BTCA-JP 7 99693045 99693045 single base substitution G A downstream_gene_variant CESC-US 7 99689397 99689397 single base substitution C T 3_prime_UTR_variant CESC-US 7 99689397 99689397 single base substitution C T downstream_gene_variant CESC-US 7 99689397 99689397 single base substitution C T synonymous_variant R322R 966C>T CESC-US 7 99689397 99689397 single base substitution C T synonymous_variant R323R 969C>T CESC-US 7 99693763 99693763 single base substitution G C downstream_gene_variant COAD-US 7 99687015 99687015 single base substitution C T exon_variant COAD-US 7 99687015 99687015 single base substitution C T missense_variant S30F 89C>T COAD-US 7 99687015 99687015 single base substitution C T missense_variant S59F 176C>T COAD-US 7 99687015 99687015 single base substitution C T missense_variant S60F 179C>T COAD-US 7 99687015 99687015 single base substitution C T upstream_gene_variant COAD-US 7 99688230 99688230 single base substitution G A downstream_gene_variant COAD-US 7 99688230 99688230 single base substitution G A exon_variant COAD-US 7 99688230 99688230 single base substitution G A missense_variant E146K 436G>A COAD-US 7 99688230 99688230 single base substitution G A missense_variant E147K 439G>A COAD-US 7 99688874 99688874 single base substitution G T downstream_gene_variant COAD-US 7 99688874 99688874 single base substitution G T exon_variant COAD-US 7 99688874 99688874 single base substitution G T synonymous_variant L220L 660G>T COAD-US 7 99688874 99688874 single base substitution G T synonymous_variant L221L 663G>T COAD-US 7 99690690 99690690 single base substitution G C downstream_gene_variant COAD-US 7 99690747 99690747 single base substitution T C downstream_gene_variant COAD-US 7 99691873 99691873 single base substitution C T downstream_gene_variant COAD-US 7 99691889 99691889 single base substitution G A downstream_gene_variant COAD-US 7 99693045 99693045 deletion of <=200bp G - downstream_gene_variant COAD-US 7 99693416 99693416 single base substitution C T downstream_gene_variant COAD-US 7 99693552 99693552 single base substitution G A downstream_gene_variant COAD-US 7 99693567 99693567 single base substitution G A downstream_gene_variant COAD-US 7 99693747 99693747 single base substitution C T downstream_gene_variant COAD-US 7 99693774 99693774 single base substitution G T downstream_gene_variant COCA-CN 7 99685309 99685309 single base substitution C T upstream_gene_variant COCA-CN 7 99686905 99686905 single base substitution A G intron_variant COCA-CN 7 99686905 99686905 single base substitution A G splice_region_variant COCA-CN 7 99686905 99686905 single base substitution A G upstream_gene_variant COCA-CN 7 99688672 99688672 single base substitution G A downstream_gene_variant COCA-CN 7 99688672 99688672 single base substitution G A exon_variant COCA-CN 7 99688672 99688672 single base substitution G A synonymous_variant L181L 543G>A COCA-CN 7 99688672 99688672 single base substitution G A synonymous_variant L182L 546G>A COCA-CN 7 99688681 99688681 single base substitution G T downstream_gene_variant COCA-CN 7 99688681 99688681 single base substitution G T exon_variant COCA-CN 7 99688681 99688681 single base substitution G T missense_variant E184D 552G>T COCA-CN 7 99688681 99688681 single base substitution G T missense_variant E185D 555G>T COCA-CN 7 99688727 99688727 single base substitution G C downstream_gene_variant COCA-CN 7 99688727 99688727 single base substitution G C exon_variant COCA-CN 7 99688727 99688727 single base substitution G C missense_variant D200H 598G>C COCA-CN 7 99688727 99688727 single base substitution G C missense_variant D201H 601G>C COCA-CN 7 99688748 99688748 single base substitution G A downstream_gene_variant COCA-CN 7 99688748 99688748 single base substitution G A exon_variant COCA-CN 7 99688748 99688748 single base substitution G A missense_variant A207T 619G>A COCA-CN 7 99688748 99688748 single base substitution G A missense_variant A208T 622G>A COCA-CN 7 99688796 99688796 single base substitution G T downstream_gene_variant COCA-CN 7 99688796 99688796 single base substitution G T exon_variant COCA-CN 7 99688796 99688796 single base substitution G T intron_variant COCA-CN 7 99689027 99689027 single base substitution C A downstream_gene_variant COCA-CN 7 99689027 99689027 single base substitution C A intron_variant COCA-CN 7 99689075 99689076 deletion of <=200bp GA - 3_prime_UTR_variant COCA-CN 7 99689075 99689076 deletion of <=200bp GA - downstream_gene_variant COCA-CN 7 99689075 99689076 deletion of <=200bp GA - exon_variant COCA-CN 7 99689075 99689076 deletion of <=200bp GA - frameshift_variant E258 COCA-CN 7 99689075 99689076 deletion of <=200bp GA - frameshift_variant E259 COCA-CN 7 99689396 99689396 single base substitution G A 3_prime_UTR_variant COCA-CN 7 99689396 99689396 single base substitution G A downstream_gene_variant COCA-CN 7 99689396 99689396 single base substitution G A missense_variant R322H 965G>A COCA-CN 7 99689396 99689396 single base substitution G A missense_variant R323H 968G>A COCA-CN 7 99691249 99691249 single base substitution C T downstream_gene_variant COCA-CN 7 99691417 99691417 single base substitution G A downstream_gene_variant COCA-CN 7 99692025 99692025 single base substitution C T downstream_gene_variant COCA-CN 7 99693511 99693511 single base substitution C T downstream_gene_variant COCA-CN 7 99693576 99693576 single base substitution G A downstream_gene_variant COCA-CN 7 99693651 99693651 single base substitution G A downstream_gene_variant COCA-CN 7 99694787 99694787 single base substitution C T downstream_gene_variant ESAD-UK 7 99682250 99682250 single base substitution T G upstream_gene_variant ESAD-UK 7 99682535 99682535 insertion of <=200bp - G upstream_gene_variant ESAD-UK 7 99682537 99682537 single base substitution A C upstream_gene_variant ESAD-UK 7 99683336 99683336 single base substitution C G upstream_gene_variant ESAD-UK 7 99686454 99686454 single base substitution G C upstream_gene_variant ESAD-UK 7 99689537 99689537 single base substitution G T 3_prime_UTR_variant ESAD-UK 7 99689537 99689537 single base substitution G T downstream_gene_variant ESAD-UK 7 99691120 99691120 single base substitution C T downstream_gene_variant ESAD-UK 7 99691689 99691689 single base substitution C T downstream_gene_variant ESAD-UK 7 99691907 99691907 single base substitution G C downstream_gene_variant ESAD-UK 7 99692072 99692072 single base substitution C A downstream_gene_variant ESAD-UK 7 99692692 99692692 single base substitution C T downstream_gene_variant GBM-US 7 99691889 99691889 single base substitution G A downstream_gene_variant GBM-US 7 99693629 99693629 single base substitution G A downstream_gene_variant GBM-US 7 99693696 99693696 single base substitution C T downstream_gene_variant KIRC-US 7 99689085 99689086 deletion of <=200bp CT - 3_prime_UTR_variant KIRC-US 7 99689085 99689086 deletion of <=200bp CT - downstream_gene_variant KIRC-US 7 99689085 99689086 deletion of <=200bp CT - exon_variant KIRC-US 7 99689085 99689086 deletion of <=200bp CT - frameshift_variant A261 KIRC-US 7 99689085 99689086 deletion of <=200bp CT - frameshift_variant A262 KIRC-US 7 99693479 99693479 single base substitution T C downstream_gene_variant KIRC-US 7 99693535 99693535 single base substitution G T downstream_gene_variant LAML-KR 7 99689517 99689517 single base substitution A C 3_prime_UTR_variant LAML-KR 7 99689517 99689517 single base substitution A C downstream_gene_variant LAML-KR 7 99694298 99694298 single base substitution C T downstream_gene_variant LGG-US 7 99690987 99690989 deletion of <=200bp TCT - downstream_gene_variant LICA-CN 7 99688916 99688916 single base substitution C T downstream_gene_variant LICA-CN 7 99688916 99688916 single base substitution C T exon_variant LICA-CN 7 99688916 99688916 single base substitution C T synonymous_variant V234V 702C>T LICA-CN 7 99688916 99688916 single base substitution C T synonymous_variant V235V 705C>T LICA-CN 7 99693092 99693092 single base substitution A C downstream_gene_variant LICA-FR 7 99685198 99685201 deletion of <=200bp TTCT - upstream_gene_variant LICA-FR 7 99686876 99686876 single base substitution C T intron_variant LICA-FR 7 99686876 99686876 single base substitution C T upstream_gene_variant LICA-FR 7 99693659 99693659 single base substitution C A downstream_gene_variant LIHC-US 7 99686935 99686935 single base substitution C T exon_variant LIHC-US 7 99686935 99686935 single base substitution C T synonymous_variant C32C 96C>T LIHC-US 7 99686935 99686935 single base substitution C T synonymous_variant C33C 99C>T LIHC-US 7 99686935 99686935 single base substitution C T synonymous_variant C3C 9C>T LIHC-US 7 99686935 99686935 single base substitution C T upstream_gene_variant LIHC-US 7 99693701 99693701 single base substitution C A downstream_gene_variant LINC-JP 7 99686892 99686892 single base substitution C T intron_variant LINC-JP 7 99686892 99686892 single base substitution C T upstream_gene_variant LINC-JP 7 99687409 99687409 deletion of <=200bp A - downstream_gene_variant LINC-JP 7 99687409 99687409 deletion of <=200bp A - exon_variant LINC-JP 7 99687409 99687409 deletion of <=200bp A - intron_variant LINC-JP 7 99687409 99687409 deletion of <=200bp A - upstream_gene_variant LINC-JP 7 99690671 99690671 single base substitution G A downstream_gene_variant LINC-JP 7 99691314 99691314 single base substitution C T downstream_gene_variant LINC-JP 7 99691590 99691590 single base substitution T C downstream_gene_variant LINC-JP 7 99692012 99692012 single base substitution G A downstream_gene_variant LINC-JP 7 99692955 99692955 single base substitution A C downstream_gene_variant LIRI-JP 7 99683260 99683260 single base substitution A T upstream_gene_variant LIRI-JP 7 99684056 99684056 single base substitution C G upstream_gene_variant LIRI-JP 7 99687553 99687553 single base substitution A G downstream_gene_variant LIRI-JP 7 99687553 99687553 single base substitution A G exon_variant LIRI-JP 7 99687553 99687553 single base substitution A G intron_variant LIRI-JP 7 99687553 99687553 single base substitution A G upstream_gene_variant LIRI-JP 7 99689426 99689426 single base substitution A C 3_prime_UTR_variant LIRI-JP 7 99689426 99689426 single base substitution A C downstream_gene_variant LIRI-JP 7 99689946 99689946 single base substitution G A downstream_gene_variant LIRI-JP 7 99691976 99691976 single base substitution G A downstream_gene_variant LUSC-KR 7 99688066 99688066 single base substitution A G downstream_gene_variant LUSC-KR 7 99688066 99688066 single base substitution A G exon_variant LUSC-KR 7 99688066 99688066 single base substitution A G intron_variant LUSC-KR 7 99688066 99688066 single base substitution A G missense_variant T126A 376A>G LUSC-KR 7 99688066 99688066 single base substitution A G missense_variant T127A 379A>G LUSC-KR 7 99689417 99689417 single base substitution G T 3_prime_UTR_variant LUSC-KR 7 99689417 99689417 single base substitution G T downstream_gene_variant LUSC-US 7 99688910 99688910 single base substitution C T downstream_gene_variant LUSC-US 7 99688910 99688910 single base substitution C T exon_variant LUSC-US 7 99688910 99688910 single base substitution C T synonymous_variant S232S 696C>T LUSC-US 7 99688910 99688910 single base substitution C T synonymous_variant S233S 699C>T LUSC-US 7 99691659 99691659 single base substitution G A downstream_gene_variant MALY-DE 7 99682526 99682526 single base substitution A C upstream_gene_variant MALY-DE 7 99683186 99683186 single base substitution G A upstream_gene_variant MALY-DE 7 99684126 99684126 single base substitution G A upstream_gene_variant MALY-DE 7 99692048 99692048 single base substitution G A downstream_gene_variant MALY-DE 7 99692281 99692282 deletion of <=200bp AT - downstream_gene_variant MALY-DE 7 99694738 99694738 single base substitution C A downstream_gene_variant MELA-AU 7 99681738 99681738 single base substitution C T upstream_gene_variant MELA-AU 7 99682310 99682310 single base substitution G A upstream_gene_variant MELA-AU 7 99682320 99682320 single base substitution C T upstream_gene_variant MELA-AU 7 99682683 99682684 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 99682695 99682695 single base substitution T C upstream_gene_variant MELA-AU 7 99682717 99682717 single base substitution G A upstream_gene_variant MELA-AU 7 99682884 99682885 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 99683109 99683109 single base substitution T C upstream_gene_variant MELA-AU 7 99683110 99683110 single base substitution C T upstream_gene_variant MELA-AU 7 99683269 99683269 single base substitution C T upstream_gene_variant MELA-AU 7 99683710 99683710 single base substitution G A upstream_gene_variant MELA-AU 7 99683836 99683836 single base substitution C T upstream_gene_variant MELA-AU 7 99684245 99684245 single base substitution G A upstream_gene_variant MELA-AU 7 99684469 99684469 single base substitution G A upstream_gene_variant MELA-AU 7 99684582 99684582 single base substitution G T upstream_gene_variant MELA-AU 7 99684987 99684987 single base substitution G A upstream_gene_variant MELA-AU 7 99685053 99685053 single base substitution G T upstream_gene_variant MELA-AU 7 99685198 99685201 deletion of <=200bp TTCT - upstream_gene_variant MELA-AU 7 99685440 99685440 single base substitution C T upstream_gene_variant MELA-AU 7 99685640 99685640 single base substitution C T upstream_gene_variant MELA-AU 7 99685810 99685810 single base substitution G A upstream_gene_variant MELA-AU 7 99685933 99685933 single base substitution G A upstream_gene_variant MELA-AU 7 99686347 99686347 single base substitution C T upstream_gene_variant MELA-AU 7 99686730 99686730 single base substitution A G intron_variant MELA-AU 7 99686730 99686730 single base substitution A G upstream_gene_variant MELA-AU 7 99687166 99687166 single base substitution C T exon_variant MELA-AU 7 99687166 99687166 single base substitution C T intron_variant MELA-AU 7 99687166 99687166 single base substitution C T upstream_gene_variant MELA-AU 7 99687842 99687842 single base substitution G A downstream_gene_variant MELA-AU 7 99687842 99687842 single base substitution G A exon_variant MELA-AU 7 99687842 99687842 single base substitution G A intron_variant MELA-AU 7 99687842 99687842 single base substitution G A upstream_gene_variant MELA-AU 7 99688204 99688204 single base substitution C T downstream_gene_variant MELA-AU 7 99688204 99688204 single base substitution C T exon_variant MELA-AU 7 99688204 99688204 single base substitution C T intron_variant MELA-AU 7 99689582 99689582 single base substitution G A 3_prime_UTR_variant MELA-AU 7 99689582 99689582 single base substitution G A downstream_gene_variant MELA-AU 7 99691029 99691029 single base substitution G A downstream_gene_variant MELA-AU 7 99691567 99691567 single base substitution G T downstream_gene_variant MELA-AU 7 99692198 99692198 single base substitution G A downstream_gene_variant MELA-AU 7 99692425 99692425 single base substitution G A downstream_gene_variant MELA-AU 7 99692523 99692523 single base substitution G A downstream_gene_variant MELA-AU 7 99692842 99692842 single base substitution G A downstream_gene_variant MELA-AU 7 99693365 99693365 single base substitution G A downstream_gene_variant MELA-AU 7 99693651 99693651 single base substitution G A downstream_gene_variant MELA-AU 7 99693941 99693941 single base substitution G A downstream_gene_variant MELA-AU 7 99694034 99694034 single base substitution C A downstream_gene_variant MELA-AU 7 99694047 99694047 single base substitution C T downstream_gene_variant ORCA-IN 7 99693614 99693614 single base substitution C T downstream_gene_variant OV-AU 7 99681981 99681981 single base substitution G A upstream_gene_variant OV-AU 7 99684420 99684420 single base substitution A T upstream_gene_variant OV-AU 7 99684425 99684425 single base substitution G C upstream_gene_variant OV-AU 7 99684463 99684463 single base substitution A G upstream_gene_variant OV-AU 7 99686678 99686678 single base substitution T G exon_variant OV-AU 7 99686678 99686678 single base substitution T G missense_variant V22G 65T>G OV-AU 7 99686678 99686678 single base substitution T G splice_donor_variant OV-AU 7 99686678 99686678 single base substitution T G upstream_gene_variant OV-AU 7 99692932 99692932 single base substitution C G downstream_gene_variant PACA-AU 7 99684162 99684162 single base substitution G C upstream_gene_variant PACA-AU 7 99691187 99691187 single base substitution G A downstream_gene_variant PACA-CA 7 99684387 99684387 single base substitution T C upstream_gene_variant PACA-CA 7 99684848 99684848 single base substitution G A upstream_gene_variant PACA-CA 7 99685632 99685632 single base substitution G C upstream_gene_variant PACA-CA 7 99688314 99688314 single base substitution C T downstream_gene_variant PACA-CA 7 99688314 99688314 single base substitution C T exon_variant PACA-CA 7 99688314 99688314 single base substitution C T intron_variant PACA-CA 7 99689540 99689540 single base substitution G T 3_prime_UTR_variant PACA-CA 7 99689540 99689540 single base substitution G T downstream_gene_variant PAEN-AU 7 99691300 99691300 single base substitution C G downstream_gene_variant PAEN-IT 7 99692194 99692194 single base substitution T G downstream_gene_variant PBCA-DE 7 99682548 99682548 single base substitution A C upstream_gene_variant PBCA-DE 7 99682828 99682828 single base substitution A G upstream_gene_variant PBCA-DE 7 99685366 99685366 insertion of <=200bp - AT upstream_gene_variant PBCA-DE 7 99685368 99685369 deletion of <=200bp CT - upstream_gene_variant PBCA-DE 7 99686616 99686618 deletion of <=200bp GGC - 5_prime_UTR_variant PBCA-DE 7 99686616 99686618 deletion of <=200bp GGC - exon_variant PBCA-DE 7 99686616 99686618 deletion of <=200bp GGC - inframe_deletion MA1M PBCA-DE 7 99686616 99686618 deletion of <=200bp GGC - upstream_gene_variant PRAD-UK 7 99693261 99693261 single base substitution C T downstream_gene_variant PRAD-US 7 99686916 99686916 single base substitution T G 5_prime_UTR_variant PRAD-US 7 99686916 99686916 single base substitution T G exon_variant PRAD-US 7 99686916 99686916 single base substitution T G missense_variant V26G 77T>G PRAD-US 7 99686916 99686916 single base substitution T G missense_variant V27G 80T>G PRAD-US 7 99686916 99686916 single base substitution T G upstream_gene_variant PRAD-US 7 99686977 99686977 single base substitution C G exon_variant PRAD-US 7 99686977 99686977 single base substitution C G synonymous_variant V17V 51C>G PRAD-US 7 99686977 99686977 single base substitution C G synonymous_variant V46V 138C>G PRAD-US 7 99686977 99686977 single base substitution C G synonymous_variant V47V 141C>G PRAD-US 7 99686977 99686977 single base substitution C G upstream_gene_variant PRAD-US 7 99688238 99688238 single base substitution C T downstream_gene_variant PRAD-US 7 99688238 99688238 single base substitution C T exon_variant PRAD-US 7 99688238 99688238 single base substitution C T synonymous_variant P148P 444C>T PRAD-US 7 99688238 99688238 single base substitution C T synonymous_variant P149P 447C>T PRAD-US 7 99690698 99690698 single base substitution G A downstream_gene_variant SKCA-BR 7 99682700 99682700 single base substitution G A upstream_gene_variant SKCA-BR 7 99683298 99683298 single base substitution C T upstream_gene_variant SKCA-BR 7 99683309 99683309 single base substitution G T upstream_gene_variant SKCA-BR 7 99684115 99684115 single base substitution C T upstream_gene_variant SKCA-BR 7 99685510 99685510 single base substitution C T upstream_gene_variant SKCA-BR 7 99685667 99685667 single base substitution G A upstream_gene_variant SKCA-BR 7 99686408 99686408 single base substitution A G upstream_gene_variant SKCA-BR 7 99686414 99686414 single base substitution T G upstream_gene_variant SKCA-BR 7 99686577 99686577 single base substitution G A 5_prime_UTR_variant SKCA-BR 7 99686577 99686577 single base substitution G A upstream_gene_variant SKCA-BR 7 99691741 99691741 single base substitution G A downstream_gene_variant SKCA-BR 7 99691984 99691984 single base substitution G A downstream_gene_variant SKCA-BR 7 99692776 99692776 single base substitution G A downstream_gene_variant SKCM-US 7 99688740 99688740 single base substitution G A downstream_gene_variant SKCM-US 7 99688740 99688740 single base substitution G A exon_variant SKCM-US 7 99688740 99688740 single base substitution G A missense_variant R204Q 611G>A SKCM-US 7 99688740 99688740 single base substitution G A missense_variant R205Q 614G>A SKCM-US 7 99690928 99690928 single base substitution C T downstream_gene_variant SKCM-US 7 99693042 99693042 single base substitution G A downstream_gene_variant SKCM-US 7 99693582 99693582 single base substitution G A downstream_gene_variant SKCM-US 7 99693651 99693651 single base substitution G A downstream_gene_variant STAD-US 7 99688088 99688088 single base substitution C T downstream_gene_variant STAD-US 7 99688088 99688088 single base substitution C T exon_variant STAD-US 7 99688088 99688088 single base substitution C T intron_variant STAD-US 7 99688088 99688088 single base substitution C T missense_variant S133L 398C>T STAD-US 7 99688088 99688088 single base substitution C T missense_variant S134L 401C>T STAD-US 7 99688867 99688871 deletion of <=200bp AACAC - downstream_gene_variant STAD-US 7 99688867 99688871 deletion of <=200bp AACAC - exon_variant STAD-US 7 99688867 99688871 deletion of <=200bp AACAC - frameshift_variant EH218 STAD-US 7 99688867 99688871 deletion of <=200bp AACAC - frameshift_variant EH219 STAD-US 7 99689073 99689073 single base substitution G A 3_prime_UTR_variant STAD-US 7 99689073 99689073 single base substitution G A downstream_gene_variant STAD-US 7 99689073 99689073 single base substitution G A exon_variant STAD-US 7 99689073 99689073 single base substitution G A missense_variant R257Q 770G>A STAD-US 7 99689073 99689073 single base substitution G A missense_variant R258Q 773G>A STAD-US 7 99690627 99690627 single base substitution C T downstream_gene_variant STAD-US 7 99693469 99693469 single base substitution G A downstream_gene_variant THCA-SA 7 99689615 99689615 single base substitution G C 3_prime_UTR_variant THCA-SA 7 99689615 99689615 single base substitution G C downstream_gene_variant THCA-SA 7 99693552 99693552 single base substitution G A downstream_gene_variant UCEC-US 7 99688214 99688214 single base substitution G A downstream_gene_variant UCEC-US 7 99688214 99688214 single base substitution G A exon_variant UCEC-US 7 99688214 99688214 single base substitution G A splice_acceptor_variant UCEC-US 7 99688570 99688570 single base substitution G T downstream_gene_variant UCEC-US 7 99688570 99688570 single base substitution G T exon_variant UCEC-US 7 99688570 99688570 single base substitution G T splice_region_variant UCEC-US 7 99688570 99688570 single base substitution G T stop_gained E177* 529G>T UCEC-US 7 99688570 99688570 single base substitution G T stop_gained E178* 532G>T UCEC-US 7 99688765 99688765 single base substitution G T downstream_gene_variant UCEC-US 7 99688765 99688765 single base substitution G T exon_variant UCEC-US 7 99688765 99688765 single base substitution G T missense_variant E212D 636G>T UCEC-US 7 99688765 99688765 single base substitution G T missense_variant E213D 639G>T UCEC-US 7 99689047 99689047 single base substitution G T downstream_gene_variant UCEC-US 7 99689047 99689047 single base substitution G T exon_variant UCEC-US 7 99689047 99689047 single base substitution G T missense_variant E248D 744G>T UCEC-US 7 99689047 99689047 single base substitution G T missense_variant E249D 747G>T UCEC-US 7 99689080 99689080 single base substitution C A 3_prime_UTR_variant UCEC-US 7 99689080 99689080 single base substitution C A downstream_gene_variant UCEC-US 7 99689080 99689080 single base substitution C A exon_variant UCEC-US 7 99689080 99689080 single base substitution C A synonymous_variant A259A 777C>A UCEC-US 7 99689080 99689080 single base substitution C A synonymous_variant A260A 780C>A UCEC-US 7 99689085 99689085 single base substitution C G 3_prime_UTR_variant UCEC-US 7 99689085 99689085 single base substitution C G downstream_gene_variant UCEC-US 7 99689085 99689085 single base substitution C G exon_variant UCEC-US 7 99689085 99689085 single base substitution C G missense_variant A261G 782C>G UCEC-US 7 99689085 99689085 single base substitution C G missense_variant A262G 785C>G UCEC-US 7 99689132 99689132 single base substitution G T 3_prime_UTR_variant UCEC-US 7 99689132 99689132 single base substitution G T downstream_gene_variant UCEC-US 7 99689132 99689132 single base substitution G T exon_variant UCEC-US 7 99689132 99689132 single base substitution G T missense_variant D277Y 829G>T UCEC-US 7 99689132 99689132 single base substitution G T missense_variant D278Y 832G>T UCEC-US 7 99689296 99689296 single base substitution G A 3_prime_UTR_variant UCEC-US 7 99689296 99689296 single base substitution G A downstream_gene_variant UCEC-US 7 99689296 99689296 single base substitution G A exon_variant UCEC-US 7 99689296 99689296 single base substitution G A missense_variant A289T 865G>A UCEC-US 7 99689296 99689296 single base substitution G A missense_variant A290T 868G>A UCEC-US 7 99691448 99691448 single base substitution G A downstream_gene_variant UCEC-US 7 99691962 99691962 single base substitution C T downstream_gene_variant UCEC-US 7 99693413 99693413 single base substitution G A downstream_gene_variant UCEC-US 7 99693651 99693651 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PD9004a COSM5785765 c.734C>G p.S245C Substitution - Missense 7:100091322-100091322 + SJBALL020013_D1 COSM4993770 c.285A>C p.E95D Substitution - Missense 7:100089697-100089697 + MOLT-4 COSM1673353 c.967C>T p.R323C Substitution - Missense 7:100091772-100091772 + sysucc-1397T COSM5062725 c.968G>A p.R323H Substitution - Missense 7:100091773-100091773 + TCGA-B5-A11G-01 COSM1093940 c.747G>T p.E249D Substitution - Missense 7:100091424-100091424 + Pat_28_B COSM5873546 c.202+1G>A p.? Unknown 7:100089416-100089416 + sysucc-823T COSM5461764 c.622G>A p.A208T Substitution - Missense 7:100091125-100091125 + 587316 COSM1202080 c.943C>T p.R315* Substitution - Nonsense 7:100091748-100091748 + TCGA-BH-A18V-06 COSM3833657 c.742+1G>A p.? Unknown 7:100091331-100091331 + A4 COSM5351466 c.2_3insGGCGGC p.A10_T11insAA Insertion - In frame 7:100088992-100088993 + 587376 COSM1202081 c.618G>T p.M206I Substitution - Missense 7:100091121-100091121 + TCGA-B5-A0JY-01 COSM1093938 c.532G>T p.E178* Substitution - Nonsense 7:100090947-100090947 + TCGA-AZ-6599-01 COSM1453346 c.179C>T p.S60F Substitution - Missense 7:100089392-100089392 + H2073 COSM1093944 c.868G>A p.A290T Substitution - Missense 7:100091673-100091673 + TCGA-B5-A0JN-01 COSM1093942 c.785C>G p.A262G Substitution - Missense 7:100091462-100091462 + LC_S11 COSM1187384 c.291G>C p.K97N Substitution - Missense 7:100089703-100089703 + 1639_T COSM3951033 c.705C>A p.V235V Substitution - coding silent 7:100091293-100091293 + TCGA-AP-A0LM-01 COSM1093944 c.868G>A p.A290T Substitution - Missense 7:100091673-100091673 + TCGA-G9-7523-01 COSM1472028 c.447C>T p.P149P Substitution - coding silent 7:100090615-100090615 + AOCS-150-8-X COSM4149448 c.65T>G p.V22G Substitution - Missense 7:100089055-100089055 + IGROV-1 COSM1684115 c.815_816delCA p.T272fs*9 Deletion - Frameshift 7:100091492-100091493 + GC8_T COSM150333 c.429T>C p.C143C Substitution - coding silent 7:100090597-100090597 + LIM2551 COSM4614057 c.573_574delCA p.T192fs*27 Deletion - Frameshift 7:100091076-100091077 + SWE-11 COSM1178831 c.631A>C p.S211R Substitution - Missense 7:100091134-100091134 + TCGA-CH-5794-01 COSM1132897 c.141C>G p.V47V Substitution - coding silent 7:100089354-100089354 + TCGA-22-4604-01 COSM748257 c.699C>T p.S233S Substitution - coding silent 7:100091287-100091287 + TCGA-EE-A2MR-06 COSM3643007 c.614G>A p.R205Q Substitution - Missense 7:100091117-100091117 + TCGA-D1-A177-01 COSM1093937 c.424-1G>A p.? Unknown 7:100090591-100090591 + TCGA-AG-3892-01 COSM256681 c.679G>A p.A227T Substitution - Missense 7:100091267-100091267 + TCGA-13-2057-01 COSM1330422 c.944G>A p.R315Q Substitution - Missense 7:100091749-100091749 + GB02 COSM1743077 c.700C>T p.R234C Substitution - Missense 7:100091288-100091288 + CSCC-11-T COSM4553071 c.57G>A p.G19G Substitution - coding silent 7:100089047-100089047 + CSCC-35-T COSM4549685 c.47G>A p.G16E Substitution - Missense 7:100089037-100089037 + sysucc-823T COSM5461761 c.546G>A p.L182L Substitution - coding silent 7:100091049-100091049 + 2530678 COSM5885403 c.517G>C p.D173H Substitution - Missense 7:100090932-100090932 + TCGA-CG-4436-01 COSM3883926 c.773G>A p.R258Q Substitution - Missense 7:100091450-100091450 + TCGA-CU-A3KJ-01 COSM1313502 c.147C>G p.L49L Substitution - coding silent 7:100089360-100089360 + sysucc-823T COSM5461762 c.555G>T p.E185D Substitution - Missense 7:100091058-100091058 + I2L-P19Ta-Tumor-Organoid COSM5358134 c.702C>T p.R234R Substitution - coding silent 7:100091290-100091290 + STC252 COSM5062725 c.968G>A p.R323H Substitution - Missense 7:100091773-100091773 + SC_9097 COSM5548044 c.486+1_486+4delGTGA p.? Unknown 7:100090655-100090658 + TCGA-AA-3655-01 COSM1453347 c.439G>A p.E147K Substitution - Missense 7:100090607-100090607 + TCGA-AX-A060-01 COSM1093941 c.780C>A p.A260A Substitution - coding silent 7:100091457-100091457 + TCGA-BC-A10U-01 COSM3267622 c.99C>T p.C33C Substitution - coding silent 7:100089312-100089312 + TCGA-AA-A010-01 COSM280079 c.313T>C p.Y105H Substitution - Missense 7:100089725-100089725 + GCT50 COSM5749825 c.334T>A p.F112I Substitution - Missense 7:100089746-100089746 + BD112T COSM5490845 c.283G>T p.E95* Substitution - Nonsense 7:100089695-100089695 + CRC-03T COSM5452049 c.775_776delGA p.E259fs*22 Deletion - Frameshift 7:100091452-100091453 + T3202 COSM4674194 c.214C>A p.L72M Substitution - Missense 7:100089626-100089626 + TCGA-A2-A0YK-01 COSM453690 c.229G>T p.E77* Substitution - Nonsense 7:100089641-100089641 + J85_T COSM3951032 c.379A>G p.T127A Substitution - Missense 7:100090443-100090443 + TCGA-AA-3697-01 COSM1453348 c.663G>T p.L221L Substitution - coding silent 7:100091251-100091251 + TCGA-D8-A27G-01 COSM3833658 c.793C>T p.H265Y Substitution - Missense 7:100091470-100091470 + BD112T COSM5490844 c.282G>T p.V94V Substitution - coding silent 7:100089694-100089694 + TCGA-B5-A11E-01 COSM1093943 c.832G>T p.D278Y Substitution - Missense 7:100091509-100091509 + TCGA-AG-3883-01 COSM5068132 c.207_208insGGG p.G70_A71insG Insertion - In frame 7:100089619-100089620 + HCC119T COSM5811227 c.705C>T p.V235V Substitution - coding silent 7:100091293-100091293 + TCGA-BR-A4QL-01 COSM3883925 c.401C>T p.S134L Substitution - Missense 7:100090465-100090465 + sysucc-823T COSM5461763 c.601G>C p.D201H Substitution - Missense 7:100091104-100091104 + TCGA-G9-7523-01 COSM3784105 c.80T>G p.V27G Substitution - Missense 7:100089293-100089293 + sysucc-886T COSM5766956 c.77-8A>G p.? Unknown 7:100089282-100089282 + TCGA-B5-A0JY-01 COSM1093939 c.639G>T p.E213D Substitution - Missense 7:100091142-100091142 + TCGA-EJ-7125-01 COSM3675012 c.773G>T p.R258L Substitution - Missense 7:100091450-100091450 + 2328683 COSM3267640 c.877G>A p.G293S Substitution - Missense 7:100091682-100091682 + H1993 COSM1093944 c.868G>A p.A290T Substitution - Missense 7:100091673-100091673 + EGC15 COSM5062724 c.590G>A p.R197H Substitution - Missense 7:100091093-100091093 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.15591 7q22.1 614729

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.334+184A>G 7 99687553 HC C A Synonymous p.A260A c.780C>A 7 99689080 UCEC C A Synonymous p.R79R c.235C>A 7 99687270 CM C G Missense p.A262G c.785C>G 7 99689085 UCEC C G Synonymous p.L49L c.147C>G 7 99686983 BLCA C G Synonymous p.V47V c.141C>G 7 99686977 PRAD CT - Frameshift p.L263Vfs*18 c.787_788delCT 7 99689085 RCCC C T IntronicSNV . c.203-73C>T 7 99687165 CM C T IntronicSNV . c.334+54C>T 7 99687423 CM C T Synonymous p.P149P c.447C>T 7 99688238 PRAD C T Synonymous p.S233S c.699C>T 7 99688910 LUSC G A Missense p.R258Q c.773G>A 7 99689073 STAD G A SpliceAcceptorSNV . c.424-1G>A 7 99688214 UCEC G T Missense p.E249D c.747G>T 7 99689047 UCEC G T Missense p.R258L c.773G>T 7 99689073 STAD G T Nonsense p.E77* c.229G>T 7 99687264 BRCA T C Synonymous p.A218A c.654T>C 7 99688865 STAD