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 14 55509824 55509824 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr14:55509824G>C c.65G>C c.(64-66)aGa>aCa p.R22T BLCA 14 55509991 55509991 + Silent SNP T T C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 g.chr14:55509991T>C c.232T>C c.(232-234)Tta>Cta p.L78L BRCA 14 55510028 55510028 + Missense_Mutation SNP C C A TCGA-AR-A1AW-01A-21D-A12Q-09 TCGA-AR-A1AW-10A-01D-A12Q-09 g.chr14:55510028C>A c.269C>A c.(268-270)tCt>tAt p.S90Y BRCA 14 55510648 55510648 + Nonsense_Mutation SNP G G T TCGA-BH-A42T-01A-11D-A243-09 TCGA-BH-A42T-10A-01D-A243-09 g.chr14:55510648G>T c.889G>T c.(889-891)Gaa>Taa p.E297* CESC 14 55509864 55509864 + Missense_Mutation SNP G G C TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 g.chr14:55509864G>C c.105G>C c.(103-105)aaG>aaC p.K35N CESC 14 55509864 55509864 + Silent SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 g.chr14:55509864G>A c.105G>A c.(103-105)aaG>aaA p.K35K CESC 14 55509907 55509907 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 g.chr14:55509907G>A c.148G>A c.(148-150)Gag>Aag p.E50K CESC 14 55509925 55509925 + Nonsense_Mutation SNP G G T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 g.chr14:55509925G>T c.166G>T c.(166-168)Gag>Tag p.E56* CESC 14 55510091 55510091 + Missense_Mutation SNP G G A TCGA-EA-A3HT-01A-61D-A21Q-09 TCGA-EA-A3HT-10A-01D-A21Q-09 g.chr14:55510091G>A c.332G>A c.(331-333)cGg>cAg p.R111Q CESC 14 55510564 55510564 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr14:55510564G>C c.805G>C c.(805-807)Gat>Cat p.D269H CESC 14 55511068 55511068 + Missense_Mutation SNP G G A TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 g.chr14:55511068G>A c.1309G>A c.(1309-1311)Gaa>Aaa p.E437K CHOL 14 55510680 55510680 + Silent SNP C C T TCGA-YR-A95A-01A-12D-A417-09 TCGA-YR-A95A-10A-01D-A41A-09 g.chr14:55510680C>T c.921C>T c.(919-921)acC>acT p.T307T COAD 14 55510449 55510449 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr14:55510449C>T c.690C>T c.(688-690)tcC>tcT p.S230S COADREAD 14 55510449 55510449 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr14:55510449C>T c.690C>T c.(688-690)tcC>tcT p.S230S COADREAD 14 55510690 55510690 + Nonsense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:55510690C>T c.931C>T c.(931-933)Cga>Tga p.R311* ESCA 14 55509975 55509975 + Silent SNP A A C TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 g.chr14:55509975A>C c.216A>C c.(214-216)tcA>tcC p.S72S ESCA 14 55510261 55510261 + Missense_Mutation SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr14:55510261C>G c.502C>G c.(502-504)Cag>Gag p.Q168E ESCA 14 55510760 55510760 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 g.chr14:55510760G>T c.1001G>T c.(1000-1002)aGa>aTa p.R334I GBM 14 55510054 55510054 + Missense_Mutation SNP G G A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 g.chr14:55510054G>A c.295G>A c.(295-297)Gtg>Atg p.V99M GBMLGG 14 55509911 55509911 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:55509911C>T c.152C>T c.(151-153)aCa>aTa p.T51I GBMLGG 14 55510054 55510054 + Missense_Mutation SNP G G A TCGA-06-2565-01A-01D-1494-08 TCGA-06-2565-10A-01D-1494-08 g.chr14:55510054G>A c.295G>A c.(295-297)Gtg>Atg p.V99M GBMLGG 14 55510641 55510641 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:55510641C>T c.882C>T c.(880-882)taC>taT p.Y294Y GBMLGG 14 55511019 55511019 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:55511019G>T c.1260G>T c.(1258-1260)aaG>aaT p.K420N HNSC 14 55509833 55509833 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 g.chr14:55509833A>G c.74A>G c.(73-75)gAc>gGc p.D25G HNSC 14 55510556 55510556 + Missense_Mutation SNP C C T TCGA-CQ-A4CB-01A-11D-A25D-08 TCGA-CQ-A4CB-10A-01D-A25E-08 g.chr14:55510556C>T c.797C>T c.(796-798)aCg>aTg p.T266M HNSC 14 55510854 55510854 + Silent SNP G G A TCGA-CV-5432-01A-02D-1683-08 TCGA-CV-5432-10A-01D-1870-08 g.chr14:55510854G>A c.1095G>A c.(1093-1095)aaG>aaA p.K365K KIPAN 14 55510990 55510991 + Frame_Shift_Ins INS - - T TCGA-CW-5585-01A-01D-1534-10 TCGA-CW-5585-11A-01D-1535-10 g.chr14:55510990_55510991insT c.1231_1232insT c.(1231-1233)attfs p.I411fs KIRC 14 55510990 55510991 + Frame_Shift_Ins INS - - T TCGA-CW-5585-01A-01D-1534-10 TCGA-CW-5585-11A-01D-1535-10 g.chr14:55510990_55510991insT c.1231_1232insT c.(1231-1233)attfs p.I411fs LGG 14 55509911 55509911 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:55509911C>T c.152C>T c.(151-153)aCa>aTa p.T51I LGG 14 55510641 55510641 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:55510641C>T c.882C>T c.(880-882)taC>taT p.Y294Y LGG 14 55511019 55511019 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:55511019G>T c.1260G>T c.(1258-1260)aaG>aaT p.K420N LUAD 14 55510343 55510343 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 g.chr14:55510343C>T c.584C>T c.(583-585)cCc>cTc p.P195L LUAD 14 55510836 55510836 + Silent SNP G G T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 g.chr14:55510836G>T c.1077G>T c.(1075-1077)ggG>ggT p.G359G LUSC 14 55510378 55510378 + Missense_Mutation SNP G G C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr14:55510378G>C c.619G>C c.(619-621)Gaa>Caa p.E207Q LUSC 14 55510516 55510516 + Missense_Mutation SNP G G T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr14:55510516G>T c.757G>T c.(757-759)Gat>Tat p.D253Y LUSC 14 55510557 55510557 + Silent SNP G G T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 g.chr14:55510557G>T c.798G>T c.(796-798)acG>acT p.T266T OV 14 55510295 55510295 + Missense_Mutation SNP G G C TCGA-10-0937-01A-02W-0419-10 TCGA-10-0937-11A-01W-0419-10 g.chr14:55510295G>C c.536G>C c.(535-537)aGa>aCa p.R179T PAAD 14 55510090 55510090 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:55510090C>T c.331C>T c.(331-333)Cgg>Tgg p.R111W PAAD 14 55510690 55510690 + Nonsense_Mutation SNP C C T TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 g.chr14:55510690C>T c.931C>T c.(931-933)Cga>Tga p.R311* PAAD 14 55511079 55511079 + Nonsense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:55511079C>A c.1320C>A c.(1318-1320)tgC>tgA p.C440* PRAD 14 55509920 55509920 + Missense_Mutation SNP G G T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 g.chr14:55509920G>T c.161G>T c.(160-162)gGt>gTt p.G54V PRAD 14 55510444 55510444 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr14:55510444G>A c.685G>A c.(685-687)Gat>Aat p.D229N READ 14 55510690 55510690 + Nonsense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:55510690C>T c.931C>T c.(931-933)Cga>Tga p.R311* SKCM 14 55510448 55510448 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr14:55510448C>T c.689C>T c.(688-690)tCc>tTc p.S230F SKCM 14 55510906 55510906 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr14:55510906C>T c.1147C>T c.(1147-1149)Cgg>Tgg p.R383W SKCM 14 55510993 55510993 + Missense_Mutation SNP C C T TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr14:55510993C>T c.1234C>T c.(1234-1236)Cct>Tct p.P412S

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 14 55509991 55509991 single base substitution T C synonymous_variant L78L 232T>C BRCA-EU 14 55489867 55489867 single base substitution A G upstream_gene_variant BRCA-EU 14 55491124 55491124 single base substitution C T upstream_gene_variant BRCA-EU 14 55492042 55492042 single base substitution G A upstream_gene_variant BRCA-EU 14 55492444 55492444 single base substitution C T upstream_gene_variant BRCA-EU 14 55493085 55493085 single base substitution A G upstream_gene_variant BRCA-EU 14 55493574 55493574 single base substitution G C upstream_gene_variant BRCA-EU 14 55493640 55493640 single base substitution A G upstream_gene_variant BRCA-EU 14 55494456 55494456 single base substitution T G 5_prime_UTR_variant BRCA-EU 14 55494456 55494456 single base substitution T G intron_variant BRCA-EU 14 55495562 55495562 single base substitution C G intron_variant BRCA-EU 14 55496431 55496431 single base substitution G C intron_variant BRCA-EU 14 55496900 55496900 single base substitution G C intron_variant BRCA-EU 14 55497151 55497151 single base substitution G A intron_variant BRCA-EU 14 55497730 55497730 deletion of <=200bp T - intron_variant BRCA-EU 14 55498358 55498358 single base substitution G A intron_variant BRCA-EU 14 55499062 55499062 single base substitution A T downstream_gene_variant BRCA-EU 14 55499062 55499062 single base substitution A T intron_variant BRCA-EU 14 55499332 55499332 single base substitution G C downstream_gene_variant BRCA-EU 14 55499332 55499332 single base substitution G C intron_variant BRCA-EU 14 55499738 55499738 single base substitution G A downstream_gene_variant BRCA-EU 14 55499738 55499738 single base substitution G A intron_variant BRCA-EU 14 55506897 55506897 single base substitution G A intron_variant BRCA-EU 14 55508176 55508176 single base substitution C G intron_variant BRCA-EU 14 55512517 55512517 single base substitution G C 3_prime_UTR_variant BRCA-EU 14 55514915 55514915 single base substitution G T 3_prime_UTR_variant BRCA-EU 14 55514915 55514915 single base substitution G T downstream_gene_variant BRCA-EU 14 55515055 55515055 single base substitution G T 3_prime_UTR_variant BRCA-EU 14 55515055 55515055 single base substitution G T downstream_gene_variant BRCA-EU 14 55515915 55515915 single base substitution G C 3_prime_UTR_variant BRCA-EU 14 55515915 55515915 single base substitution G C downstream_gene_variant BRCA-EU 14 55516113 55516113 single base substitution A C 3_prime_UTR_variant BRCA-EU 14 55516113 55516113 single base substitution A C downstream_gene_variant BRCA-EU 14 55516819 55516820 deletion of <=200bp CT - downstream_gene_variant BRCA-EU 14 55517313 55517313 single base substitution C T downstream_gene_variant BRCA-EU 14 55518191 55518191 single base substitution G T downstream_gene_variant BRCA-EU 14 55518903 55518903 single base substitution C A downstream_gene_variant BRCA-EU 14 55519236 55519236 single base substitution G A downstream_gene_variant BRCA-EU 14 55519268 55519268 single base substitution G C downstream_gene_variant BRCA-FR 14 55496431 55496431 single base substitution G C intron_variant BRCA-FR 14 55497151 55497151 single base substitution G A intron_variant BRCA-FR 14 55504459 55504459 single base substitution G A intron_variant BRCA-FR 14 55508176 55508176 single base substitution C G intron_variant BRCA-FR 14 55508661 55508661 single base substitution C T intron_variant BRCA-FR 14 55515562 55515562 single base substitution G A 3_prime_UTR_variant BRCA-FR 14 55515562 55515562 single base substitution G A downstream_gene_variant BRCA-UK 14 55516113 55516113 single base substitution A C 3_prime_UTR_variant BRCA-UK 14 55516113 55516113 single base substitution A C downstream_gene_variant BRCA-US 14 55494105 55494105 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 14 55494105 55494105 single base substitution C G exon_variant BRCA-US 14 55494105 55494105 single base substitution C G upstream_gene_variant BRCA-US 14 55510028 55510028 single base substitution C A missense_variant S90Y 269C>A BRCA-US 14 55510648 55510648 single base substitution G T stop_gained E297* 889G>T BTCA-JP 14 55493320 55493320 single base substitution C T upstream_gene_variant CESC-US 14 55509864 55509864 single base substitution G A synonymous_variant K35K 105G>A CESC-US 14 55509864 55509864 single base substitution G C missense_variant K35N 105G>C CESC-US 14 55509907 55509907 single base substitution G A missense_variant E50K 148G>A CESC-US 14 55509925 55509925 single base substitution G T stop_gained E56* 166G>T CESC-US 14 55510091 55510091 single base substitution G A missense_variant R111Q 332G>A CESC-US 14 55510564 55510564 single base substitution G C missense_variant D269H 805G>C CESC-US 14 55511068 55511068 single base substitution G A missense_variant E437K 1309G>A CESC-US 14 55518385 55518385 single base substitution G C downstream_gene_variant CLLE-ES 14 55490621 55490621 single base substitution T C upstream_gene_variant CLLE-ES 14 55518126 55518126 single base substitution A T downstream_gene_variant COAD-US 14 55512401 55512401 insertion of <=200bp - T 3_prime_UTR_variant COAD-US 14 55513200 55513200 deletion of <=200bp A - 3_prime_UTR_variant COAD-US 14 55515197 55515197 deletion of <=200bp A - 3_prime_UTR_variant COAD-US 14 55515197 55515197 deletion of <=200bp A - downstream_gene_variant COCA-CN 14 55510346 55510346 single base substitution G A missense_variant C196Y 587G>A COCA-CN 14 55510965 55510965 single base substitution T G synonymous_variant T402T 1206T>G ESAD-UK 14 55489428 55489428 single base substitution A C upstream_gene_variant ESAD-UK 14 55493452 55493452 single base substitution C T upstream_gene_variant ESAD-UK 14 55493982 55493982 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 14 55493982 55493982 single base substitution C T upstream_gene_variant ESAD-UK 14 55494136 55494136 single base substitution G A 5_prime_UTR_variant ESAD-UK 14 55494136 55494136 single base substitution G A exon_variant ESAD-UK 14 55494136 55494136 single base substitution G A upstream_gene_variant ESAD-UK 14 55496676 55496676 single base substitution A T intron_variant ESAD-UK 14 55496857 55496857 deletion of <=200bp G - intron_variant ESAD-UK 14 55497089 55497089 single base substitution A T intron_variant ESAD-UK 14 55497142 55497142 single base substitution G C intron_variant ESAD-UK 14 55499199 55499199 single base substitution A T downstream_gene_variant ESAD-UK 14 55499199 55499199 single base substitution A T intron_variant ESAD-UK 14 55500289 55500289 deletion of <=200bp G - downstream_gene_variant ESAD-UK 14 55500289 55500289 deletion of <=200bp G - intron_variant ESAD-UK 14 55500290 55500290 single base substitution T C downstream_gene_variant ESAD-UK 14 55500290 55500290 single base substitution T C intron_variant ESAD-UK 14 55503313 55503313 single base substitution C A downstream_gene_variant ESAD-UK 14 55503313 55503313 single base substitution C A intron_variant ESAD-UK 14 55504969 55504969 single base substitution G A intron_variant ESAD-UK 14 55505491 55505491 single base substitution T A intron_variant ESAD-UK 14 55506231 55506231 insertion of <=200bp - A intron_variant ESAD-UK 14 55509894 55509894 single base substitution T A missense_variant S45R 135T>A ESAD-UK 14 55510009 55510009 single base substitution C T missense_variant H84Y 250C>T ESAD-UK 14 55517746 55517746 single base substitution C A downstream_gene_variant ESAD-UK 14 55518900 55518900 single base substitution G C downstream_gene_variant ESAD-UK 14 55518903 55518903 single base substitution C T downstream_gene_variant ESAD-UK 14 55519154 55519154 single base substitution T C downstream_gene_variant ESAD-UK 14 55519537 55519537 single base substitution T C downstream_gene_variant ESAD-UK 14 55521113 55521113 single base substitution G A downstream_gene_variant ESCA-CN 14 55510131 55510131 single base substitution C T synonymous_variant I124I 372C>T GBM-US 14 55510054 55510054 single base substitution G A missense_variant V99M 295G>A KIRC-US 14 55510990 55510990 insertion of <=200bp - T frameshift_variant I411Y? LICA-FR 14 55493383 55493383 single base substitution T C upstream_gene_variant LICA-FR 14 55510041 55510041 single base substitution A G synonymous_variant K94K 282A>G LICA-FR 14 55510646 55510646 single base substitution C T missense_variant A296V 887C>T LICA-FR 14 55510772 55510772 single base substitution G T missense_variant W338L 1013G>T LINC-JP 14 55490137 55490137 single base substitution C A upstream_gene_variant LINC-JP 14 55492570 55492570 single base substitution C A upstream_gene_variant LINC-JP 14 55497863 55497863 single base substitution G A intron_variant LINC-JP 14 55514722 55514722 single base substitution C A 3_prime_UTR_variant LINC-JP 14 55514722 55514722 single base substitution C A downstream_gene_variant LIRI-JP 14 55488954 55488954 single base substitution T C upstream_gene_variant LIRI-JP 14 55489708 55489708 single base substitution A G upstream_gene_variant LIRI-JP 14 55495802 55495802 single base substitution A G intron_variant LIRI-JP 14 55496022 55496022 single base substitution A G intron_variant LIRI-JP 14 55496736 55496736 single base substitution A G intron_variant LIRI-JP 14 55500308 55500308 single base substitution A G downstream_gene_variant LIRI-JP 14 55500308 55500308 single base substitution A G intron_variant LIRI-JP 14 55503818 55503818 single base substitution A G intron_variant LIRI-JP 14 55504062 55504062 single base substitution C A intron_variant LIRI-JP 14 55505010 55505010 single base substitution C A intron_variant LIRI-JP 14 55507203 55507203 single base substitution C T intron_variant LIRI-JP 14 55507473 55507473 single base substitution A G intron_variant LIRI-JP 14 55510472 55510472 single base substitution G A missense_variant C238Y 713G>A LIRI-JP 14 55510583 55510583 single base substitution T C missense_variant V275A 824T>C LIRI-JP 14 55512491 55512491 single base substitution A C 3_prime_UTR_variant LIRI-JP 14 55513156 55513156 single base substitution A G 3_prime_UTR_variant LIRI-JP 14 55513346 55513346 single base substitution A G 3_prime_UTR_variant LIRI-JP 14 55514215 55514215 single base substitution G T 3_prime_UTR_variant LIRI-JP 14 55514215 55514215 single base substitution G T downstream_gene_variant LIRI-JP 14 55515005 55515005 single base substitution A G 3_prime_UTR_variant LIRI-JP 14 55515005 55515005 single base substitution A G downstream_gene_variant LUSC-KR 14 55495004 55495004 single base substitution G A intron_variant LUSC-KR 14 55502463 55502463 single base substitution G C downstream_gene_variant LUSC-KR 14 55502463 55502463 single base substitution G C intron_variant LUSC-KR 14 55514646 55514646 single base substitution C G 3_prime_UTR_variant LUSC-KR 14 55514646 55514646 single base substitution C G downstream_gene_variant LUSC-KR 14 55517777 55517777 single base substitution G C downstream_gene_variant LUSC-KR 14 55518254 55518254 single base substitution G T downstream_gene_variant LUSC-US 14 55493433 55493433 single base substitution C A upstream_gene_variant LUSC-US 14 55510378 55510378 single base substitution G C missense_variant E207Q 619G>C LUSC-US 14 55510516 55510516 single base substitution G T missense_variant D253Y 757G>T LUSC-US 14 55510557 55510557 single base substitution G T synonymous_variant T266T 798G>T MALY-DE 14 55495709 55495709 single base substitution T A intron_variant MALY-DE 14 55495785 55495785 single base substitution T C intron_variant MALY-DE 14 55496103 55496103 single base substitution A T intron_variant MALY-DE 14 55496787 55496787 single base substitution G A intron_variant MALY-DE 14 55498344 55498344 single base substitution A G intron_variant MALY-DE 14 55500422 55500422 single base substitution T C downstream_gene_variant MALY-DE 14 55500422 55500422 single base substitution T C intron_variant MALY-DE 14 55501111 55501111 single base substitution G C downstream_gene_variant MALY-DE 14 55501111 55501111 single base substitution G C intron_variant MALY-DE 14 55507184 55507184 single base substitution C T intron_variant MALY-DE 14 55517697 55517697 single base substitution A G downstream_gene_variant MELA-AU 14 55489702 55489702 single base substitution C T upstream_gene_variant MELA-AU 14 55489800 55489800 single base substitution G A upstream_gene_variant MELA-AU 14 55491667 55491667 single base substitution T A upstream_gene_variant MELA-AU 14 55491701 55491701 single base substitution A T upstream_gene_variant MELA-AU 14 55492807 55492807 single base substitution G A upstream_gene_variant MELA-AU 14 55493083 55493083 single base substitution G A upstream_gene_variant MELA-AU 14 55493112 55493112 single base substitution C T upstream_gene_variant MELA-AU 14 55493416 55493416 single base substitution C T upstream_gene_variant MELA-AU 14 55494606 55494606 single base substitution G A intron_variant MELA-AU 14 55495515 55495516 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 55495787 55495787 single base substitution C T intron_variant MELA-AU 14 55497459 55497459 single base substitution G A intron_variant MELA-AU 14 55498213 55498214 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 55498373 55498373 single base substitution T C intron_variant MELA-AU 14 55498761 55498761 single base substitution T C downstream_gene_variant MELA-AU 14 55498761 55498761 single base substitution T C intron_variant MELA-AU 14 55499350 55499351 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 14 55499350 55499351 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 55499699 55499699 single base substitution A C downstream_gene_variant MELA-AU 14 55499699 55499699 single base substitution A C intron_variant MELA-AU 14 55499701 55499701 single base substitution C T downstream_gene_variant MELA-AU 14 55499701 55499701 single base substitution C T intron_variant MELA-AU 14 55500640 55500640 single base substitution C T downstream_gene_variant MELA-AU 14 55500640 55500640 single base substitution C T intron_variant MELA-AU 14 55501670 55501671 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 14 55501670 55501671 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 55502604 55502604 single base substitution C T downstream_gene_variant MELA-AU 14 55502604 55502604 single base substitution C T intron_variant MELA-AU 14 55502848 55502848 single base substitution C T downstream_gene_variant MELA-AU 14 55502848 55502848 single base substitution C T intron_variant MELA-AU 14 55503019 55503019 single base substitution T C downstream_gene_variant MELA-AU 14 55503019 55503019 single base substitution T C intron_variant MELA-AU 14 55503046 55503046 single base substitution C T downstream_gene_variant MELA-AU 14 55503046 55503046 single base substitution C T intron_variant MELA-AU 14 55503659 55503659 single base substitution C T downstream_gene_variant MELA-AU 14 55503659 55503659 single base substitution C T intron_variant MELA-AU 14 55504241 55504241 single base substitution C T intron_variant MELA-AU 14 55504332 55504332 single base substitution C T intron_variant MELA-AU 14 55504416 55504416 single base substitution T C intron_variant MELA-AU 14 55505549 55505549 single base substitution G T intron_variant MELA-AU 14 55505759 55505759 single base substitution G A intron_variant MELA-AU 14 55506088 55506088 single base substitution C T intron_variant MELA-AU 14 55506659 55506659 single base substitution C T intron_variant MELA-AU 14 55507268 55507268 single base substitution C T intron_variant MELA-AU 14 55507550 55507550 single base substitution C A intron_variant MELA-AU 14 55507891 55507891 single base substitution C T intron_variant MELA-AU 14 55508176 55508176 single base substitution C T intron_variant MELA-AU 14 55508205 55508205 single base substitution T A intron_variant MELA-AU 14 55508873 55508873 single base substitution T C intron_variant MELA-AU 14 55509536 55509536 single base substitution C T intron_variant MELA-AU 14 55511340 55511364 deletion of <=200bp TTTCCTTAATTTATACATGATCCTT - 3_prime_UTR_variant MELA-AU 14 55511386 55511386 single base substitution C T 3_prime_UTR_variant MELA-AU 14 55511865 55511865 single base substitution C T 3_prime_UTR_variant MELA-AU 14 55512077 55512077 single base substitution A C 3_prime_UTR_variant MELA-AU 14 55513057 55513057 single base substitution T C 3_prime_UTR_variant MELA-AU 14 55513596 55513596 single base substitution C T 3_prime_UTR_variant MELA-AU 14 55513596 55513596 single base substitution C T downstream_gene_variant MELA-AU 14 55513598 55513599 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 14 55513598 55513599 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 14 55515165 55515165 single base substitution C T 3_prime_UTR_variant MELA-AU 14 55515165 55515165 single base substitution C T downstream_gene_variant MELA-AU 14 55515260 55515260 single base substitution C T 3_prime_UTR_variant MELA-AU 14 55515260 55515260 single base substitution C T downstream_gene_variant MELA-AU 14 55517587 55517587 single base substitution A G downstream_gene_variant MELA-AU 14 55517896 55517896 single base substitution G A downstream_gene_variant MELA-AU 14 55518254 55518254 single base substitution G A downstream_gene_variant MELA-AU 14 55518295 55518296 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 55518304 55518304 single base substitution G A downstream_gene_variant MELA-AU 14 55518555 55518555 single base substitution A T downstream_gene_variant MELA-AU 14 55518848 55518848 single base substitution C T downstream_gene_variant MELA-AU 14 55519327 55519327 single base substitution T C downstream_gene_variant MELA-AU 14 55519669 55519669 single base substitution A T downstream_gene_variant MELA-AU 14 55520327 55520327 single base substitution C T downstream_gene_variant MELA-AU 14 55520398 55520398 single base substitution T C downstream_gene_variant MELA-AU 14 55520813 55520813 single base substitution C G downstream_gene_variant ORCA-IN 14 55496141 55496141 single base substitution G C intron_variant ORCA-IN 14 55500117 55500117 single base substitution G A downstream_gene_variant ORCA-IN 14 55500117 55500117 single base substitution G A intron_variant ORCA-IN 14 55514661 55514662 deletion of <=200bp AG - 3_prime_UTR_variant ORCA-IN 14 55514661 55514662 deletion of <=200bp AG - downstream_gene_variant OV-AU 14 55493995 55493995 single base substitution G A 5_prime_UTR_variant OV-AU 14 55493995 55493995 single base substitution G A upstream_gene_variant OV-AU 14 55495121 55495121 single base substitution C G intron_variant OV-AU 14 55497734 55497734 single base substitution T A intron_variant OV-AU 14 55501495 55501495 single base substitution G A downstream_gene_variant OV-AU 14 55501495 55501495 single base substitution G A intron_variant OV-AU 14 55502448 55502448 single base substitution C G downstream_gene_variant OV-AU 14 55502448 55502448 single base substitution C G intron_variant OV-AU 14 55503417 55503417 single base substitution T C downstream_gene_variant OV-AU 14 55503417 55503417 single base substitution T C intron_variant OV-AU 14 55504800 55504800 single base substitution T G intron_variant OV-AU 14 55506001 55506001 single base substitution T C intron_variant OV-AU 14 55508167 55508167 single base substitution G A intron_variant PACA-AU 14 55500055 55500055 single base substitution G T downstream_gene_variant PACA-AU 14 55500055 55500055 single base substitution G T intron_variant PACA-AU 14 55507339 55507339 single base substitution G T intron_variant PACA-AU 14 55508663 55508663 deletion of <=200bp T - intron_variant PACA-CA 14 55497512 55497512 single base substitution C A intron_variant PACA-CA 14 55500128 55500128 single base substitution C G downstream_gene_variant PACA-CA 14 55500128 55500128 single base substitution C G intron_variant PACA-CA 14 55509713 55509713 single base substitution A G 5_prime_UTR_variant PAEN-AU 14 55519190 55519190 single base substitution A G downstream_gene_variant PAEN-IT 14 55492584 55492584 single base substitution C A upstream_gene_variant PAEN-IT 14 55512184 55512184 single base substitution C T 3_prime_UTR_variant PBCA-DE 14 55515857 55515857 single base substitution A T 3_prime_UTR_variant PBCA-DE 14 55515857 55515857 single base substitution A T downstream_gene_variant PRAD-CA 14 55494697 55494697 single base substitution T A intron_variant PRAD-CA 14 55497726 55497726 single base substitution T C intron_variant PRAD-CA 14 55513094 55513094 single base substitution C T 3_prime_UTR_variant PRAD-CA 14 55515906 55515906 single base substitution G C 3_prime_UTR_variant PRAD-CA 14 55515906 55515906 single base substitution G C downstream_gene_variant PRAD-CA 14 55519867 55519867 single base substitution T G downstream_gene_variant PRAD-UK 14 55490274 55490274 single base substitution G A upstream_gene_variant PRAD-UK 14 55504469 55504469 single base substitution C T intron_variant PRAD-UK 14 55510708 55510708 single base substitution G C missense_variant D317H 949G>C PRAD-UK 14 55518752 55518752 single base substitution C T downstream_gene_variant READ-US 14 55510690 55510690 single base substitution C T stop_gained R311* 931C>T READ-US 14 55510744 55510744 single base substitution C T missense_variant R329C 985C>T RECA-EU 14 55514933 55514933 single base substitution C T 3_prime_UTR_variant RECA-EU 14 55514933 55514933 single base substitution C T downstream_gene_variant SKCA-BR 14 55495274 55495274 single base substitution G A intron_variant SKCA-BR 14 55498046 55498046 single base substitution G A intron_variant SKCA-BR 14 55498225 55498225 single base substitution G A intron_variant SKCA-BR 14 55505198 55505198 single base substitution T A intron_variant SKCA-BR 14 55508260 55508260 single base substitution G A intron_variant SKCA-BR 14 55509062 55509062 single base substitution G A intron_variant SKCA-BR 14 55509919 55509919 single base substitution G T missense_variant G54C 160G>T SKCA-BR 14 55511547 55511547 single base substitution C T 3_prime_UTR_variant SKCA-BR 14 55514423 55514423 single base substitution T G 3_prime_UTR_variant SKCA-BR 14 55514423 55514423 single base substitution T G downstream_gene_variant SKCM-US 14 55510448 55510448 single base substitution C T missense_variant S230F 689C>T SKCM-US 14 55510906 55510906 single base substitution C T missense_variant R383W 1147C>T SKCM-US 14 55510993 55510993 single base substitution C T missense_variant P412S 1234C>T SKCM-US 14 55518520 55518520 single base substitution G T downstream_gene_variant STAD-US 14 55509879 55509879 insertion of <=200bp - A frameshift_variant S40S? STAD-US 14 55510009 55510009 single base substitution C T missense_variant H84Y 250C>T STAD-US 14 55510474 55510474 single base substitution A G missense_variant T239A 715A>G STAD-US 14 55510709 55510709 single base substitution A G missense_variant D317G 950A>G STAD-US 14 55510745 55510745 single base substitution G A missense_variant R329H 986G>A STAD-US 14 55510977 55510977 single base substitution C T synonymous_variant I406I 1218C>T STAD-US 14 55510994 55510996 deletion of <=200bp CTT - inframe_deletion PS412P THCA-SA 14 55494090 55494090 single base substitution G A 5_prime_UTR_variant THCA-SA 14 55494090 55494090 single base substitution G A exon_variant THCA-SA 14 55494090 55494090 single base substitution G A upstream_gene_variant THCA-SA 14 55494091 55494091 single base substitution G A 5_prime_UTR_variant THCA-SA 14 55494091 55494091 single base substitution G A exon_variant THCA-SA 14 55494091 55494091 single base substitution G A upstream_gene_variant UCEC-US 14 55493501 55493501 single base substitution G T upstream_gene_variant UCEC-US 14 55510208 55510208 single base substitution A G missense_variant H150R 449A>G UCEC-US 14 55510262 55510262 single base substitution A G missense_variant Q168R 503A>G UCEC-US 14 55510291 55510291 single base substitution C T stop_gained R178* 532C>T UCEC-US 14 55510841 55510841 single base substitution T A missense_variant L361Q 1082T>A UCEC-US 14 55510863 55510863 single base substitution C T synonymous_variant S368S 1104C>T UCEC-US 14 55510977 55510977 single base substitution C A synonymous_variant I406I 1218C>A UCEC-US 14 55510977 55510977 single base substitution C T synonymous_variant I406I 1218C>T UCEC-US 14 55511039 55511039 single base substitution A G missense_variant K427R 1280A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand MD-338 COSM303269 c.361A>G p.K121E Substitution - Missense 14:55043402-55043402 + TCGA-FP-A4BE-01 COSM4051350 c.986G>A p.R329H Substitution - Missense 14:55044027-55044027 + T3080 COSM4728894 c.342A>G p.S114S Substitution - coding silent 14:55043383-55043383 + 452 COSM4435825 c.471A>G p.K157K Substitution - coding silent 14:55043512-55043512 + TCGA-FD-A3B5-01 COSM1300676 c.232T>C p.L78L Substitution - coding silent 14:55043273-55043273 + TCGA-AP-A052-01 COSM956341 c.1280A>G p.K427R Substitution - Missense 14:55044321-55044321 + TCGA-FU-A3HY-01 COSM4838660 c.148G>A p.E50K Substitution - Missense 14:55043189-55043189 + TCGA-AP-A054-01 COSM956338 c.1104C>T p.S368S Substitution - coding silent 14:55044145-55044145 + TCGA-AX-A05Z-01 COSM956339 c.1218C>T p.I406I Substitution - coding silent 14:55044259-55044259 + U2940 COSM5621882 c.864G>A p.W288* Substitution - Nonsense 14:55043905-55043905 + LU-A08-43 COSM400343 c.888C>T p.A296A Substitution - coding silent 14:55043929-55043929 + TCGA-BR-6452-01 COSM4051349 c.950A>G p.D317G Substitution - Missense 14:55043991-55043991 + TCGA-B5-A0JY-01 COSM956340 c.1218C>A p.I406I Substitution - coding silent 14:55044259-55044259 + 2246940 COSM4413546 c.925T>G p.L309V Substitution - Missense 14:55043966-55043966 + TCGA-AX-A0J1-01 COSM956334 c.449A>G p.H150R Substitution - Missense 14:55043490-55043490 + CHC892T COSM4796970 c.887C>T p.A296V Substitution - Missense 14:55043928-55043928 + TCGA-CG-4305-01 COSM4051347 c.250C>T p.H84Y Substitution - Missense 14:55043291-55043291 + ZZUFHECRKL-G034T COSM5440248 c.372C>T p.I124I Substitution - coding silent 14:55043413-55043413 + CHC313T COSM4793508 c.282A>G p.K94K Substitution - coding silent 14:55043323-55043323 + pfg129T COSM4755642 c.445C>T p.R149* Substitution - Nonsense 14:55043486-55043486 + TCGA-BR-6452-01 COSM4051348 c.715A>G p.T239A Substitution - Missense 14:55043756-55043756 + CHC1209T COSM4804726 c.1013G>T p.W338L Substitution - Missense 14:55044054-55044054 + 1_PRE-TREATMENT COSM1720513 c.985C>T p.R329C Substitution - Missense 14:55044026-55044026 + TCGA-EA-A3HT-01 COSM4843439 c.332G>A p.R111Q Substitution - Missense 14:55043373-55043373 + ESCC_141 COSM5643521 c.121A>T p.K41* Substitution - Nonsense 14:55043162-55043162 + PD2152a COSM27615 c.179delT p.V60fs*3 Deletion - Frameshift 14:55043220-55043220 + TCGA-AR-A1AW-01 COSM433149 c.269C>A p.S90Y Substitution - Missense 14:55043310-55043310 + Pat_70_B COSM5848205 c.331C>T p.R111W Substitution - Missense 14:55043372-55043372 + TCGA-DS-A0VK-01 COSM459150 c.105G>C p.K35N Substitution - Missense 14:55043146-55043146 + LUAD-YINHD COSM348949 c.65G>C p.R22T Substitution - Missense 14:55043106-55043106 + RK076_C01 COSM3700877 c.713G>A p.C238Y Substitution - Missense 14:55043754-55043754 + TCGA-EE-A2MR-06 COSM2245236 c.1147C>T p.R383W Substitution - Missense 14:55044188-55044188 + 068T COSM1730499 c.466T>C p.S156P Substitution - Missense 14:55043507-55043507 + TCGA-10-0937-01 COSM78558 c.536G>C p.R179T Substitution - Missense 14:55043577-55043577 + TCGA-EI-6917-01 COSM1720513 c.985C>T p.R329C Substitution - Missense 14:55044026-55044026 + TCGA-66-2785-01 COSM698336 c.619G>C p.E207Q Substitution - Missense 14:55043660-55043660 + 1_RESISTANT COSM1720513 c.985C>T p.R329C Substitution - Missense 14:55044026-55044026 + TCGA-A5-A0G9-01 COSM956335 c.503A>G p.Q168R Substitution - Missense 14:55043544-55043544 + TCGA-CG-5723-01 COSM956339 c.1218C>T p.I406I Substitution - coding silent 14:55044259-55044259 + TCGA-B5-A11H-01 COSM956336 c.532C>T p.R178* Substitution - Nonsense 14:55043573-55043573 + TCGA-BK-A0C9-01 COSM956337 c.1082T>A p.L361Q Substitution - Missense 14:55044123-55044123 + TCGA-EE-A180-06 COSM3496437 c.1234C>T p.P412S Substitution - Missense 14:55044275-55044275 + ESO-717 COSM1242874 c.85G>A p.G29S Substitution - Missense 14:55043126-55043126 + 1N30-VS-1T30 COSM4974032 c.212G>A p.C71Y Substitution - Missense 14:55043253-55043253 + CHC1209T COSM4804726 c.1013G>T p.W338L Substitution - Missense 14:55044054-55044054 + ESO-045 COSM1266407 c.601G>A p.D201N Substitution - Missense 14:55043642-55043642 + CSCC-62-T COSM4496145 c.468C>T p.S156S Substitution - coding silent 14:55043509-55043509 + TCGA-FU-A3HY-01 COSM4838669 c.1309G>A p.E437K Substitution - Missense 14:55044350-55044350 + CHC313T COSM4793508 c.282A>G p.K94K Substitution - coding silent 14:55043323-55043323 + TCGA-FU-A3HY-01 COSM4838584 c.166G>T p.E56* Substitution - Nonsense 14:55043207-55043207 + RK109_C01 COSM1629344 c.824T>C p.V275A Substitution - Missense 14:55043865-55043865 + TCGA-EE-A2GC-06 COSM3496436 c.689C>T p.S230F Substitution - Missense 14:55043730-55043730 + TCGA-BH-A42T-01 COSM3814948 c.889G>T p.E297* Substitution - Nonsense 14:55043930-55043930 + 587376 COSM1227092 c.638C>T p.S213F Substitution - Missense 14:55043679-55043679 + CSCC-31-T COSM4459659 c.1134C>T p.S378S Substitution - coding silent 14:55044175-55044175 + TCGA-FU-A3HY-01 COSM4838678 c.105G>A p.K35K Substitution - coding silent 14:55043146-55043146 + ESO-081 COSM1243631 c.451A>G p.T151A Substitution - Missense 14:55043492-55043492 + TCGA-06-2565-01 COSM3401356 c.295G>A p.V99M Substitution - Missense 14:55043336-55043336 + 0060_CRUK_PC_0060_T1_DNA COSM5420684 c.949G>C p.D317H Substitution - Missense 14:55043990-55043990 + Pat_70_A COSM5848205 c.331C>T p.R111W Substitution - Missense 14:55043372-55043372 + YUKLAB COSM1707361 c.1238C>T p.S413F Substitution - Missense 14:55044279-55044279 + TCGA-66-2785-01 COSM698335 c.757G>T p.D253Y Substitution - Missense 14:55043798-55043798 + SNU-283 COSM2245226 c.152C>A p.T51K Substitution - Missense 14:55043193-55043193 + 1517_PT COSM5754596 c.205C>T p.H69Y Substitution - Missense 14:55043246-55043246 + CHC892T COSM4796970 c.887C>T p.A296V Substitution - Missense 14:55043928-55043928 + TCGA-21-5782-01 COSM698334 c.798G>T p.T266T Substitution - coding silent 14:55043839-55043839 + sysucc-882T COSM5447111 c.587G>A p.C196Y Substitution - Missense 14:55043628-55043628 + RW2982 COSM4649528 c.883G>A p.A295T Substitution - Missense 14:55043924-55043924 + MD-090 COSM303268 c.112T>C p.S38P Substitution - Missense 14:55043153-55043153 + TCGA-EI-6917-01 COSM170538 c.931C>T p.R311* Substitution - Nonsense 14:55043972-55043972 + S00035 COSM5656689 c.569A>C p.H190P Substitution - Missense 14:55043610-55043610 + LUAD-YINHD COSM348950 c.642G>C p.V214V Substitution - coding silent 14:55043683-55043683 + 1517_CLM COSM5754597 c.809A>G p.Y270C Substitution - Missense 14:55043850-55043850 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.532610 14q22.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.1320+2267A>G 14 55513346 HC A G Missense p.D25G c.74A>G 14 55509833 HNSC A G Missense p.K427R c.1280A>G 14 55511039 UCEC A G Missense p.Q168R c.503A>G 14 55510262 UCEC A T 3-UTRSNV . c.1320+4778A>T 14 55515857 MB C A Missense p.S90Y c.269C>A 14 55510028 BRCA C G Nonsense p.S219* c.656C>G 14 55510415 BRCA C T Missense p.H84Y c.250C>T 14 55510009 STAD C T Missense p.P195L c.584C>T 14 55510343 LUAD C T Missense p.P412S c.1234C>T 14 55510993 CM C T Missense p.S230F c.689C>T 14 55510448 CM C T Nonsense p.R178* c.532C>T 14 55510291 UCEC C T Synonymous p.S368S c.1104C>T 14 55510863 UCEC G A 5-UTRSNV . c.1-14G>A 14 55509746 CM G A Missense p.V99M c.295G>A 14 55510054 GBM G A Synonymous p.K365K c.1095G>A 14 55510854 HNSC G C Missense p.R179T c.536G>C 14 55510295 OV G T 3-UTRSNV . c.1320+3136G>T 14 55514215 HC G T Synonymous p.T266T c.798G>T 14 55510557 LUSC T A Missense p.L361Q c.1082T>A 14 55510841 UCEC T C Missense p.V275A c.824T>C 14 55510583 HC T C Synonymous p.L78L c.232T>C 14 55509991 BLCA - T Frameshift p.P412Sfs*14 c.1233dupT 14 55510991 RCCC T G 3-UTRSNV . c.1320+77T>G 14 55511156 MM