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 1 242159578 242159578 + Missense_Mutation SNP C C T TCGA-XF-AAMY-01A-11D-A42E-08 TCGA-XF-AAMY-10A-01D-A42H-08 g.chr1:242159578C>T c.331G>A c.(331-333)Gag>Aag p.E111K BLCA 1 242159687 242159687 + Splice_Site SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 g.chr1:242159687C>G c.222G>C c.(220-222)cgG>cgC p.R74R BRCA 1 242159611 242159611 + Missense_Mutation SNP T T A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 g.chr1:242159611T>A c.298A>T c.(298-300)Acc>Tcc p.T100S COAD 1 242159605 242159605 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:242159605C>T c.304G>A c.(304-306)Gca>Aca p.A102T COAD 1 242159683 242159683 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:242159683G>A c.226C>T c.(226-228)Cgc>Tgc p.R76C COAD 1 242161882 242161882 + Frame_Shift_Del DEL G G - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:242161882delG c.155delC c.(154-156)ccgfs p.P52fs COAD 1 242162307 242162307 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:242162307G>A c.4C>T c.(4-6)Ccg>Tcg p.P2S COADREAD 1 242159605 242159605 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:242159605C>T c.304G>A c.(304-306)Gca>Aca p.A102T COADREAD 1 242159683 242159683 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:242159683G>A c.226C>T c.(226-228)Cgc>Tgc p.R76C COADREAD 1 242161882 242161882 + Frame_Shift_Del DEL G G - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr1:242161882delG c.155delC c.(154-156)ccgfs p.P52fs COADREAD 1 242162307 242162307 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:242162307G>A c.4C>T c.(4-6)Ccg>Tcg p.P2S HNSC 1 242159618 242159618 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 g.chr1:242159618C>T c.291G>A c.(289-291)atG>atA p.M97I HNSC 1 242159636 242159636 + Silent SNP G G A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 g.chr1:242159636G>A c.273C>T c.(271-273)aaC>aaT p.N91N HNSC 1 242162283 242162283 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr1:242162283C>T c.28G>A c.(28-30)Gtc>Atc p.V10I LUAD 1 242159486 242159486 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr1:242159486G>T c.423C>A c.(421-423)gaC>gaA p.D141E LUAD 1 242159524 242159524 + Nonsense_Mutation SNP C C A TCGA-49-4514-01A-21D-1855-08 TCGA-49-4514-11A-01D-1855-08 g.chr1:242159524C>A c.385G>T c.(385-387)Gag>Tag p.E129* LUAD 1 242159538 242159538 + Missense_Mutation SNP G G A TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr1:242159538G>A c.371C>T c.(370-372)aCa>aTa p.T124I LUAD 1 242159549 242159549 + Silent SNP G G T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 g.chr1:242159549G>T c.360C>A c.(358-360)gcC>gcA p.A120A LUAD 1 242159555 242159555 + Silent SNP G G T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 g.chr1:242159555G>T c.354C>A c.(352-354)acC>acA p.T118T LUAD 1 242159682 242159682 + Missense_Mutation SNP C C A TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr1:242159682C>A c.227G>T c.(226-228)cGc>cTc p.R76L LUAD 1 242161821 242161821 + Silent SNP G G T TCGA-NJ-A55A-01A-11D-A25L-08 TCGA-NJ-A55A-10A-01D-A25L-08 g.chr1:242161821G>T c.216C>A c.(214-216)atC>atA p.I72I LUAD 1 242161836 242161836 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr1:242161836G>A c.201C>T c.(199-201)acC>acT p.T67T LUAD 1 242161853 242161853 + Nonsense_Mutation SNP G G A TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 g.chr1:242161853G>A c.184C>T c.(184-186)Cag>Tag p.Q62* LUAD 1 242161881 242161881 + Silent SNP C C A TCGA-55-8203-01A-11D-2238-08 TCGA-55-8203-10A-01D-2238-08 g.chr1:242161881C>A c.156G>T c.(154-156)ccG>ccT p.P52P LUAD 1 242162078 242162078 + Splice_Site SNP C C T TCGA-MN-A4N1-01A-11D-A24P-08 TCGA-MN-A4N1-10A-01D-A24P-08 g.chr1:242162078C>T c.114G>A c.(112-114)ccG>ccA p.P38P LUAD 1 242162301 242162301 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 g.chr1:242162301G>C c.10C>G c.(10-12)Cca>Gca p.P4A LUSC 1 242159509 242159509 + Missense_Mutation SNP T T A TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 g.chr1:242159509T>A c.400A>T c.(400-402)Agg>Tgg p.R134W LUSC 1 242159552 242159552 + Silent SNP G G A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 g.chr1:242159552G>A c.357C>T c.(355-357)taC>taT p.Y119Y LUSC 1 242161836 242161836 + Silent SNP G G T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr1:242161836G>T c.201C>A c.(199-201)acC>acA p.T67T LUSC 1 242161882 242161882 + Missense_Mutation SNP G G A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 g.chr1:242161882G>A c.155C>T c.(154-156)cCg>cTg p.P52L OV 1 242159668 242159668 + Missense_Mutation SNP C C T TCGA-13-0765-01A-01W-0372-09 TCGA-13-0765-10A-01W-0372-09 g.chr1:242159668C>T c.241G>A c.(241-243)Gcc>Acc p.A81T OV 1 242162259 242162259 + Missense_Mutation SNP T T A TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 g.chr1:242162259T>A c.52A>T c.(52-54)Agc>Tgc p.S18C PAAD 1 242159659 242159659 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:242159659C>T c.250G>A c.(250-252)Gcc>Acc p.A84T PRAD 1 242159540 242159540 + Missense_Mutation SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:242159540C>A c.369G>T c.(367-369)gaG>gaT p.E123D PRAD 1 242159571 242159571 + Missense_Mutation SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:242159571C>A c.338G>T c.(337-339)gGc>gTc p.G113V SKCM 1 242159558 242159558 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 g.chr1:242159558C>T c.351G>A c.(349-351)atG>atA p.M117I SKCM 1 242161914 242161914 + Silent SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr1:242161914C>T c.123G>A c.(121-123)gtG>gtA p.V41V

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-UK 1 242162292 242162292 single base substitution T A missense_variant I7F 19A>T BRCA-EU 1 242154483 242154483 single base substitution G A downstream_gene_variant BRCA-EU 1 242155498 242155498 single base substitution C A downstream_gene_variant BRCA-EU 1 242155703 242155703 single base substitution C T downstream_gene_variant BRCA-EU 1 242156490 242156490 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 242156856 242156856 single base substitution C A downstream_gene_variant BRCA-EU 1 242158899 242158899 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 242159114 242159114 deletion of <=200bp G - 3_prime_UTR_variant BRCA-EU 1 242159178 242159178 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 242159286 242159286 single base substitution A G 3_prime_UTR_variant BRCA-EU 1 242160304 242160304 deletion of <=200bp G - intron_variant BRCA-EU 1 242160387 242160387 single base substitution G A intron_variant BRCA-EU 1 242160587 242160587 single base substitution C G intron_variant BRCA-EU 1 242160643 242160643 single base substitution G C intron_variant BRCA-EU 1 242161139 242161139 single base substitution G T intron_variant BRCA-EU 1 242161264 242161264 single base substitution C G intron_variant BRCA-EU 1 242161877 242161877 single base substitution C T missense_variant D54N 160G>A BRCA-EU 1 242161953 242161953 single base substitution A T intron_variant BRCA-EU 1 242162227 242162227 single base substitution C G intron_variant BRCA-EU 1 242162643 242162643 single base substitution G A upstream_gene_variant BRCA-EU 1 242162922 242162922 single base substitution C A upstream_gene_variant BRCA-EU 1 242162974 242162974 single base substitution G T upstream_gene_variant BRCA-EU 1 242164700 242164700 single base substitution G A upstream_gene_variant BRCA-EU 1 242165178 242165178 single base substitution T C upstream_gene_variant BRCA-EU 1 242165385 242165385 single base substitution T G upstream_gene_variant BRCA-EU 1 242165476 242165476 single base substitution G A upstream_gene_variant BRCA-EU 1 242165596 242165596 single base substitution T C upstream_gene_variant BRCA-EU 1 242166242 242166242 single base substitution G C upstream_gene_variant BRCA-EU 1 242167275 242167275 single base substitution C T upstream_gene_variant BRCA-FR 1 242160270 242160270 single base substitution G A intron_variant BRCA-FR 1 242161877 242161877 single base substitution C T missense_variant D54N 160G>A BRCA-FR 1 242166172 242166172 single base substitution C G upstream_gene_variant BRCA-UK 1 242160643 242160643 single base substitution G C intron_variant BRCA-UK 1 242160850 242160850 single base substitution C T intron_variant BRCA-US 1 242159611 242159611 single base substitution T A missense_variant T100S 298A>T BTCA-JP 1 242162284 242162284 single base substitution G A synonymous_variant S9S 27C>T BTCA-JP 1 242162343 242162343 insertion of <=200bp - A 5_prime_UTR_variant CESC-US 1 242162308 242162308 single base substitution C T start_lost M1I 3G>A CLLE-ES 1 242160083 242160083 single base substitution T G intron_variant COAD-US 1 242159605 242159605 single base substitution C T missense_variant A102T 304G>A COAD-US 1 242159683 242159683 single base substitution G A missense_variant R76C 226C>T COAD-US 1 242161882 242161882 deletion of <=200bp G - frameshift_variant P52 COCA-CN 1 242156537 242156537 single base substitution G A downstream_gene_variant COCA-CN 1 242162036 242162036 single base substitution C A intron_variant EOPC-DE 1 242157441 242157441 single base substitution T G downstream_gene_variant EOPC-DE 1 242163490 242163490 single base substitution C T upstream_gene_variant EOPC-DE 1 242163583 242163583 single base substitution C T upstream_gene_variant ESAD-UK 1 242154080 242154080 single base substitution A G downstream_gene_variant ESAD-UK 1 242154765 242154765 single base substitution A G downstream_gene_variant ESAD-UK 1 242155708 242155708 single base substitution G A downstream_gene_variant ESAD-UK 1 242155876 242155876 single base substitution G A downstream_gene_variant ESAD-UK 1 242156182 242156182 single base substitution A G downstream_gene_variant ESAD-UK 1 242158044 242158044 single base substitution G A downstream_gene_variant ESAD-UK 1 242158157 242158157 deletion of <=200bp A - downstream_gene_variant ESAD-UK 1 242158640 242158640 single base substitution A T downstream_gene_variant ESAD-UK 1 242159582 242159582 single base substitution C G missense_variant K109N 327G>C ESAD-UK 1 242163737 242163737 single base substitution G A upstream_gene_variant ESAD-UK 1 242165370 242165370 single base substitution A C upstream_gene_variant ESAD-UK 1 242165973 242165973 single base substitution G C upstream_gene_variant ESAD-UK 1 242166315 242166315 single base substitution G A upstream_gene_variant ESAD-UK 1 242166847 242166847 single base substitution T G upstream_gene_variant ESAD-UK 1 242166926 242166926 single base substitution A C upstream_gene_variant ESAD-UK 1 242167036 242167036 single base substitution A G upstream_gene_variant LAML-KR 1 242156734 242156734 single base substitution C T downstream_gene_variant LAML-KR 1 242167368 242167368 single base substitution C T upstream_gene_variant LICA-FR 1 242161324 242161326 deletion of <=200bp TTT - intron_variant LINC-JP 1 242153896 242153896 single base substitution T C downstream_gene_variant LINC-JP 1 242159884 242159884 single base substitution A G intron_variant LINC-JP 1 242161323 242161323 single base substitution C T intron_variant LIRI-JP 1 242156156 242156156 single base substitution T C downstream_gene_variant LIRI-JP 1 242157273 242157273 single base substitution T C downstream_gene_variant LIRI-JP 1 242157447 242157447 single base substitution G T downstream_gene_variant LIRI-JP 1 242159622 242159622 single base substitution C G missense_variant S96T 287G>C LIRI-JP 1 242159864 242159864 single base substitution C A intron_variant LIRI-JP 1 242160161 242160161 single base substitution C T intron_variant LIRI-JP 1 242161159 242161159 single base substitution A G intron_variant LIRI-JP 1 242162684 242162684 single base substitution C G upstream_gene_variant LIRI-JP 1 242162915 242162915 single base substitution C T upstream_gene_variant LIRI-JP 1 242163937 242163937 single base substitution A G upstream_gene_variant LIRI-JP 1 242163989 242163989 single base substitution A G upstream_gene_variant LIRI-JP 1 242164173 242164173 single base substitution G C upstream_gene_variant LIRI-JP 1 242164819 242164819 single base substitution A G upstream_gene_variant LIRI-JP 1 242165577 242165577 single base substitution G A upstream_gene_variant LIRI-JP 1 242166746 242166746 single base substitution G C upstream_gene_variant LUSC-KR 1 242155631 242155631 single base substitution C T downstream_gene_variant LUSC-KR 1 242156721 242156721 single base substitution C A downstream_gene_variant LUSC-KR 1 242160978 242160978 single base substitution T A intron_variant LUSC-KR 1 242162031 242162031 single base substitution G A intron_variant LUSC-KR 1 242162433 242162433 single base substitution G T upstream_gene_variant LUSC-KR 1 242162889 242162889 single base substitution C T upstream_gene_variant LUSC-KR 1 242166731 242166731 single base substitution G T upstream_gene_variant LUSC-US 1 242159509 242159509 single base substitution T A missense_variant R134W 400A>T LUSC-US 1 242159552 242159552 single base substitution G A synonymous_variant Y119Y 357C>T LUSC-US 1 242161836 242161836 single base substitution G T synonymous_variant T67T 201C>A LUSC-US 1 242161882 242161882 single base substitution G A missense_variant P52L 155C>T MELA-AU 1 242153923 242153923 single base substitution G A downstream_gene_variant MELA-AU 1 242154117 242154117 single base substitution A T downstream_gene_variant MELA-AU 1 242154498 242154498 single base substitution C T downstream_gene_variant MELA-AU 1 242154507 242154507 single base substitution C T downstream_gene_variant MELA-AU 1 242154652 242154652 single base substitution C T downstream_gene_variant MELA-AU 1 242154764 242154764 single base substitution A G downstream_gene_variant MELA-AU 1 242154998 242154998 single base substitution C T downstream_gene_variant MELA-AU 1 242155933 242155933 single base substitution G A downstream_gene_variant MELA-AU 1 242155997 242155997 single base substitution C T downstream_gene_variant MELA-AU 1 242156395 242156395 single base substitution C T downstream_gene_variant MELA-AU 1 242156538 242156538 single base substitution A G downstream_gene_variant MELA-AU 1 242157071 242157071 single base substitution G A downstream_gene_variant MELA-AU 1 242157150 242157150 single base substitution C T downstream_gene_variant MELA-AU 1 242157309 242157309 single base substitution C T downstream_gene_variant MELA-AU 1 242157425 242157425 single base substitution C T downstream_gene_variant MELA-AU 1 242157614 242157614 single base substitution G A downstream_gene_variant MELA-AU 1 242157864 242157864 single base substitution G A downstream_gene_variant MELA-AU 1 242157949 242157949 insertion of <=200bp - A downstream_gene_variant MELA-AU 1 242158145 242158145 single base substitution C T downstream_gene_variant MELA-AU 1 242158176 242158176 single base substitution G A downstream_gene_variant MELA-AU 1 242158312 242158312 single base substitution G A downstream_gene_variant MELA-AU 1 242158358 242158358 single base substitution C T downstream_gene_variant MELA-AU 1 242159507 242159507 single base substitution C T synonymous_variant R134R 402G>A MELA-AU 1 242159788 242159788 single base substitution C T intron_variant MELA-AU 1 242160249 242160249 single base substitution C T intron_variant MELA-AU 1 242160250 242160250 single base substitution C T intron_variant MELA-AU 1 242160836 242160836 single base substitution A T intron_variant MELA-AU 1 242162462 242162462 single base substitution C T upstream_gene_variant MELA-AU 1 242162925 242162925 single base substitution A G upstream_gene_variant MELA-AU 1 242163099 242163099 single base substitution G A upstream_gene_variant MELA-AU 1 242163217 242163217 single base substitution G A upstream_gene_variant MELA-AU 1 242163235 242163235 single base substitution C T upstream_gene_variant MELA-AU 1 242163773 242163774 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 242164353 242164353 single base substitution G A upstream_gene_variant MELA-AU 1 242164390 242164390 single base substitution C T upstream_gene_variant MELA-AU 1 242164399 242164399 single base substitution G A upstream_gene_variant MELA-AU 1 242164562 242164562 single base substitution G A upstream_gene_variant MELA-AU 1 242164738 242164738 single base substitution A T upstream_gene_variant MELA-AU 1 242164811 242164811 single base substitution G A upstream_gene_variant MELA-AU 1 242164911 242164911 single base substitution C T upstream_gene_variant MELA-AU 1 242165160 242165160 single base substitution G A upstream_gene_variant MELA-AU 1 242165465 242165465 single base substitution C T upstream_gene_variant MELA-AU 1 242165495 242165495 single base substitution C T upstream_gene_variant MELA-AU 1 242165640 242165640 single base substitution T C upstream_gene_variant MELA-AU 1 242166129 242166129 single base substitution G A upstream_gene_variant MELA-AU 1 242166194 242166194 single base substitution C T upstream_gene_variant MELA-AU 1 242166292 242166292 single base substitution G A upstream_gene_variant MELA-AU 1 242166436 242166436 single base substitution A G upstream_gene_variant MELA-AU 1 242166551 242166551 single base substitution G A upstream_gene_variant MELA-AU 1 242166702 242166702 single base substitution G A upstream_gene_variant MELA-AU 1 242166793 242166793 single base substitution C T upstream_gene_variant MELA-AU 1 242167299 242167300 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant OV-AU 1 242156548 242156548 single base substitution G A downstream_gene_variant OV-AU 1 242158142 242158142 single base substitution G T downstream_gene_variant OV-AU 1 242158829 242158829 single base substitution T G 3_prime_UTR_variant OV-AU 1 242163330 242163330 single base substitution C T upstream_gene_variant OV-AU 1 242163986 242163986 single base substitution A G upstream_gene_variant OV-AU 1 242166573 242166573 single base substitution A T upstream_gene_variant OV-US 1 242159668 242159668 single base substitution C T missense_variant A81T 241G>A PACA-AU 1 242154614 242154614 single base substitution G A downstream_gene_variant PACA-AU 1 242154930 242154930 single base substitution C T downstream_gene_variant PACA-AU 1 242155469 242155469 single base substitution G A downstream_gene_variant PACA-AU 1 242157882 242157882 single base substitution G A downstream_gene_variant PACA-AU 1 242159725 242159725 single base substitution G A intron_variant PACA-AU 1 242160220 242160220 single base substitution A G intron_variant PACA-AU 1 242161801 242161801 single base substitution C A intron_variant PACA-AU 1 242162934 242162934 single base substitution A G upstream_gene_variant PACA-AU 1 242164872 242164872 single base substitution G T upstream_gene_variant PACA-AU 1 242165252 242165252 single base substitution C A upstream_gene_variant PACA-AU 1 242165291 242165291 single base substitution G A upstream_gene_variant PACA-AU 1 242166596 242166596 single base substitution G A upstream_gene_variant PACA-AU 1 242166646 242166646 single base substitution A G upstream_gene_variant PACA-AU 1 242166664 242166664 single base substitution T G upstream_gene_variant PACA-CA 1 242153999 242153999 single base substitution G A downstream_gene_variant PACA-CA 1 242156490 242156490 deletion of <=200bp A - downstream_gene_variant PACA-CA 1 242156691 242156691 single base substitution C T downstream_gene_variant PACA-CA 1 242156770 242156770 single base substitution A G downstream_gene_variant PACA-CA 1 242163645 242163645 single base substitution C T upstream_gene_variant PACA-CA 1 242164628 242164628 single base substitution G A upstream_gene_variant PACA-CA 1 242166306 242166306 single base substitution G A upstream_gene_variant PACA-CA 1 242166793 242166793 single base substitution C T upstream_gene_variant PBCA-DE 1 242161279 242161279 single base substitution C T intron_variant PRAD-CA 1 242156691 242156691 single base substitution C T downstream_gene_variant PRAD-CA 1 242160057 242160057 single base substitution T C intron_variant PRAD-CA 1 242162579 242162579 single base substitution T C upstream_gene_variant PRAD-UK 1 242163969 242163969 single base substitution C G upstream_gene_variant PRAD-UK 1 242164113 242164113 single base substitution A G upstream_gene_variant PRAD-UK 1 242164150 242164150 single base substitution C T upstream_gene_variant PRAD-UK 1 242164152 242164152 single base substitution C T upstream_gene_variant RECA-EU 1 242158439 242158439 single base substitution G C downstream_gene_variant RECA-EU 1 242164623 242164623 single base substitution T C upstream_gene_variant RECA-EU 1 242164624 242164624 single base substitution C A upstream_gene_variant RECA-EU 1 242167074 242167074 single base substitution A T upstream_gene_variant SKCA-BR 1 242153892 242153892 single base substitution G A downstream_gene_variant SKCA-BR 1 242156189 242156189 single base substitution C T downstream_gene_variant SKCA-BR 1 242156200 242156200 single base substitution C T downstream_gene_variant SKCA-BR 1 242157326 242157329 deletion of <=200bp CTAT - downstream_gene_variant SKCA-BR 1 242158073 242158073 single base substitution T G downstream_gene_variant SKCA-BR 1 242159079 242159079 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 242159104 242159104 single base substitution C A 3_prime_UTR_variant SKCA-BR 1 242159227 242159227 insertion of <=200bp - AT 3_prime_UTR_variant SKCA-BR 1 242159581 242159581 single base substitution C T missense_variant D110N 328G>A SKCA-BR 1 242164628 242164628 single base substitution G A upstream_gene_variant SKCM-US 1 242159558 242159558 single base substitution C T missense_variant M117I 351G>A SKCM-US 1 242161837 242161837 single base substitution G A missense_variant T67I 200C>T SKCM-US 1 242161914 242161914 single base substitution C T synonymous_variant V41V 123G>A STAD-US 1 242159566 242159566 single base substitution C T missense_variant V115M 343G>A STAD-US 1 242159615 242159615 single base substitution G A synonymous_variant S98S 294C>T STAD-US 1 242159681 242159681 single base substitution G A synonymous_variant R76R 228C>T UCEC-US 1 242159597 242159597 single base substitution G T synonymous_variant I104I 312C>A UCEC-US 1 242159664 242159664 single base substitution G A missense_variant T82M 245C>T UCEC-US 1 242159683 242159683 single base substitution G A missense_variant R76C 226C>T UCEC-US 1 242161826 242161826 single base substitution T C missense_variant S71G 211A>G UCEC-US 1 242162085 242162085 single base substitution T G missense_variant K36T 107A>C UCEC-US 1 242162093 242162093 single base substitution G A synonymous_variant F33F 99C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand MI4 COSM679651 c.357C>T p.Y119Y Substitution - coding silent 1:241996250-241996250 - P09-2497 COSM245565 c.322T>C p.Y108H Substitution - Missense 1:241996285-241996285 - TCGA-43-2578-01 COSM679652 c.400A>T p.R134W Substitution - Missense 1:241996207-241996207 - TCGA-AQ-A04H-01 COSM425768 c.298A>T p.T100S Substitution - Missense 1:241996309-241996309 - TCGA-HU-A4G8-01 COSM4030203 c.343G>A p.V115M Substitution - Missense 1:241996264-241996264 - PT08_2 COSM5892613 c.181C>T p.P61S Substitution - Missense 1:241998554-241998554 - TCGA-AA-3977-01 COSM297591 c.4C>T p.P2S Substitution - Missense 1:241999005-241999005 - TCGA-13-2057-01 COSM1320314 c.52A>T p.S18C Substitution - Missense 1:241998957-241998957 - TCGA-BP-5202-01 COSM1492022 c.227G>A p.R76H Substitution - Missense 1:241996380-241996380 - LUAD-RT-S01703 COSM379547 c.356A>C p.Y119S Substitution - Missense 1:241996251-241996251 - PD6761a COSM1638012 c.19A>T p.I7F Substitution - Missense 1:241998990-241998990 - 381 COSM4426405 c.284T>A p.V95D Substitution - Missense 1:241996323-241996323 - 587342 COSM1214362 c.136A>G p.R46G Substitution - Missense 1:241998599-241998599 - TCGA-AZ-6598-01 COSM906534 c.226C>T p.R76C Substitution - Missense 1:241996381-241996381 - HCT15 COSM2050342 c.45G>A p.Q15Q Substitution - coding silent 1:241998964-241998964 - CSCC-1-T COSM4492298 c.395C>A p.A132D Substitution - Missense 1:241996212-241996212 - PT08_1 COSM5892612 c.367G>A p.E123K Substitution - Missense 1:241996240-241996240 - CSCC-31-T COSM4479166 c.22C>T p.P8S Substitution - Missense 1:241998987-241998987 - TCGA-CG-4449-01 COSM4030204 c.294C>T p.S98S Substitution - coding silent 1:241996313-241996313 - TCGA-D1-A0ZO-01 COSM906535 c.211A>G p.S71G Substitution - Missense 1:241998524-241998524 - TCGA-G4-6588-01 COSM1340685 c.304G>A p.A102T Substitution - Missense 1:241996303-241996303 - SNU-C4 COSM4652239 c.5C>T p.P2L Substitution - Missense 1:241999004-241999004 - S02249 COSM5679957 c.441C>A p.L147L Substitution - coding silent 1:241996166-241996166 - TCGA-D9-A4Z5-01 COSM3486206 c.200C>T p.T67I Substitution - Missense 1:241998535-241998535 - TCGA-EE-A2MJ-06 COSM3486207 c.123G>A p.V41V Substitution - coding silent 1:241998612-241998612 - DLD1 COSM2050342 c.45G>A p.Q15Q Substitution - coding silent 1:241998964-241998964 - TCGA-13-0765-01 COSM75352 c.241G>A p.A81T Substitution - Missense 1:241996366-241996366 - LUAD-RT-S01810 COSM382763 c.188A>T p.E63V Substitution - Missense 1:241998547-241998547 - TCGA-AP-A0LM-01 COSM906537 c.99C>T p.F33F Substitution - coding silent 1:241998791-241998791 - LAU63 COSM232754 c.362C>T p.S121F Substitution - Missense 1:241996245-241996245 - TCGA-33-4583-01 COSM679649 c.201C>A p.T67T Substitution - coding silent 1:241998534-241998534 - LC_C9 COSM1185804 c.61A>T p.I21F Substitution - Missense 1:241998829-241998829 - TCGA-DA-A1I4-06 COSM3486205 c.351G>A p.M117I Substitution - Missense 1:241996256-241996256 - 2367452 COSM5004098 c.307G>A p.E103K Substitution - Missense 1:241996300-241996300 - TCGA-AX-A0J0-01 COSM906536 c.107A>C p.K36T Substitution - Missense 1:241998783-241998783 - TCGA-AX-A0J1-01 COSM906534 c.226C>T p.R76C Substitution - Missense 1:241996381-241996381 - TCGA-NH-A5IV-01 COSM5182020 c.131A>G p.Y44C Substitution - Missense 1:241998604-241998604 - 41 COSM5733888 c.432C>A p.C144* Substitution - Nonsense 1:241996175-241996175 - SNU-175 COSM2050330 c.358G>A p.A120T Substitution - Missense 1:241996249-241996249 - Pat_41_B COSM5846017 c.160G>A p.D54N Substitution - Missense 1:241998575-241998575 - 71 COSM5010763 c.389C>T p.S130L Substitution - Missense 1:241996218-241996218 - TCGA-39-5037-01 COSM679651 c.357C>T p.Y119Y Substitution - coding silent 1:241996250-241996250 - TCGA-B5-A11E-01 COSM906533 c.245C>T p.T82M Substitution - Missense 1:241996362-241996362 - SNU-175 COSM2050332 c.303G>T p.M101I Substitution - Missense 1:241996304-241996304 - TCGA-46-3767-01 COSM679648 c.155C>T p.P52L Substitution - Missense 1:241998580-241998580 - PT08_1 COSM5892613 c.181C>T p.P61S Substitution - Missense 1:241998554-241998554 - CSCC-19-T COSM4489922 c.354C>T p.T118T Substitution - coding silent 1:241996253-241996253 - TCGA-AP-A05N-01 COSM906532 c.312C>A p.I104I Substitution - coding silent 1:241996295-241996295 - CSCC-44-T COSM4494668 c.437C>T p.P146L Substitution - Missense 1:241996170-241996170 - LS411 COSM2050341 c.72G>T p.E24D Substitution - Missense 1:241998818-241998818 - 71 COSM5010764 c.388T>A p.S130T Substitution - Missense 1:241996219-241996219 - RK006_C02 COSM1626936 c.287G>C p.S96T Substitution - Missense 1:241996320-241996320 - T1221 COSM3486205 c.351G>A p.M117I Substitution - Missense 1:241996256-241996256 - PT08_2 COSM5892612 c.367G>A p.E123K Substitution - Missense 1:241996240-241996240 - TCGA-BR-4257-01 COSM4030205 c.228C>T p.R76R Substitution - coding silent 1:241996379-241996379 - CSCC-27-T COSM4459778 c.113C>T p.P38L Substitution - Missense 1:241998777-241998777 - YUPEET COSM1690060 c.319G>A p.D107N Substitution - Missense 1:241996288-241996288 - TCGA-AA-3663-01 COSM1340686 c.155delC p.P52fs*13 Deletion - Frameshift 1:241998580-241998580 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.534967;Hs.534971 1q43 609605

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - IntronicDeletion . c.114+39delT 1 242162039 ESCA A T 5-UTRSNV . c.1-59T>A 1 242162369 NSCLC C A Nonsense p.E129* c.385G>T 1 242159524 LUAD C G Missense p.S96T c.287G>C 1 242159622 HC C T Missense p.A81T c.241G>A 1 242159668 OV C T Missense p.M117I c.351G>A 1 242159558 CM C T Missense p.R76H c.227G>A 1 242159682 CM C T Missense p.V10I c.28G>A 1 242162283 HNSC C T Synonymous p.K109K c.327G>A 1 242159582 CM C T Synonymous p.V41V c.123G>A 1 242161914 CM G A IntronicSNV . c.222-38C>T 1 242159725 CM G A Missense p.P52L c.155C>T 1 242161882 LUSC G A Missense p.T124I c.371C>T 1 242159538 LUAD G A Nonsense p.Q62* c.184C>T 1 242161853 LUAD G A Synonymous p.N91N c.273C>T 1 242159636 HNSC G A Synonymous p.R76R c.228C>T 1 242159681 STAD G A Synonymous p.S98S c.294C>T 1 242159615 STAD G T Synonymous p.I104I c.312C>A 1 242159597 UCEC G T Synonymous p.T67T c.201C>A 1 242161836 LUSC T A Missense p.M117L c.349A>T 1 242159560 CM T A Missense p.R134W c.400A>T 1 242159509 LUSC T A Missense p.T100S c.298A>T 1 242159611 BRCA T C Missense p.S71G c.211A>G 1 242161826 UCEC