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 BRCA 1 20517545 20517545 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:20517545G>C c.491G>C c.(490-492)aGa>aCa p.R164T CESC 1 20517712 20517712 + Missense_Mutation SNP G G A TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 g.chr1:20517712G>A c.658G>A c.(658-660)Gat>Aat p.D220N COAD 1 20517188 20517188 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:20517188G>A c.134G>A c.(133-135)cGg>cAg p.R45Q COAD 1 20517232 20517232 + Missense_Mutation SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr1:20517232G>A c.178G>A c.(178-180)Gct>Act p.A60T COAD 1 20517341 20517341 + Missense_Mutation SNP T T C TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr1:20517341T>C c.287T>C c.(286-288)aTc>aCc p.I96T COAD 1 20517451 20517451 + Missense_Mutation SNP G G A TCGA-AA-3519-01A-02W-0831-10 TCGA-AA-3519-10A-01W-0831-10 g.chr1:20517451G>A c.397G>A c.(397-399)Gtt>Att p.V133I COAD 1 20517653 20517653 + Missense_Mutation SNP T T C TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr1:20517653T>C c.599T>C c.(598-600)cTg>cCg p.L200P COADREAD 1 20517188 20517188 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:20517188G>A c.134G>A c.(133-135)cGg>cAg p.R45Q COADREAD 1 20517232 20517232 + Missense_Mutation SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr1:20517232G>A c.178G>A c.(178-180)Gct>Act p.A60T COADREAD 1 20517341 20517341 + Missense_Mutation SNP T T C TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr1:20517341T>C c.287T>C c.(286-288)aTc>aCc p.I96T COADREAD 1 20517451 20517451 + Missense_Mutation SNP G G A TCGA-AA-3519-01A-02W-0831-10 TCGA-AA-3519-10A-01W-0831-10 g.chr1:20517451G>A c.397G>A c.(397-399)Gtt>Att p.V133I COADREAD 1 20517653 20517653 + Missense_Mutation SNP T T C TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr1:20517653T>C c.599T>C c.(598-600)cTg>cCg p.L200P GBMLGG 1 20517755 20517755 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:20517755C>T c.701C>T c.(700-702)aCc>aTc p.T234I GBMLGG 1 20517773 20517773 + Missense_Mutation SNP G G A TCGA-DU-6396-01A-11D-1705-08 TCGA-DU-6396-10A-01D-1705-08 g.chr1:20517773G>A c.719G>A c.(718-720)aGc>aAc p.S240N HNSC 1 20517058 20517058 + Missense_Mutation SNP G G A TCGA-HD-7832-01A-11D-2129-08 TCGA-HD-7832-10A-01D-2129-08 g.chr1:20517058G>A c.4G>A c.(4-6)Gcc>Acc p.A2T HNSC 1 20517146 20517146 + Nonsense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr1:20517146C>A c.92C>A c.(91-93)tCa>tAa p.S31* KIPAN 1 20517187 20517187 + Missense_Mutation SNP C C T TCGA-CJ-4905-01A-02D-1429-08 TCGA-CJ-4905-11A-01D-1429-08 g.chr1:20517187C>T c.133C>T c.(133-135)Cgg>Tgg p.R45W KIRC 1 20517187 20517187 + Missense_Mutation SNP C C T TCGA-CJ-4905-01A-02D-1429-08 TCGA-CJ-4905-11A-01D-1429-08 g.chr1:20517187C>T c.133C>T c.(133-135)Cgg>Tgg p.R45W LGG 1 20517755 20517755 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:20517755C>T c.701C>T c.(700-702)aCc>aTc p.T234I LGG 1 20517773 20517773 + Missense_Mutation SNP G G A TCGA-DU-6396-01A-11D-1705-08 TCGA-DU-6396-10A-01D-1705-08 g.chr1:20517773G>A c.719G>A c.(718-720)aGc>aAc p.S240N LIHC 1 20517360 20517360 + Silent SNP A A G TCGA-DD-AACG-01A-11D-A40R-10 TCGA-DD-AACG-10A-01D-A40U-10 g.chr1:20517360A>G c.306A>G c.(304-306)caA>caG p.Q102Q LIHC 1 20517668 20517668 + Missense_Mutation SNP C C T TCGA-K7-AAU7-01A-11D-A382-10 TCGA-K7-AAU7-10A-01D-A385-10 g.chr1:20517668C>T c.614C>T c.(613-615)tCa>tTa p.S205L LUAD 1 20517069 20517069 + Silent SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 g.chr1:20517069C>T c.15C>T c.(13-15)gcC>gcT p.A5A LUAD 1 20517387 20517387 + Silent SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr1:20517387C>G c.333C>G c.(331-333)ctC>ctG p.L111L LUAD 1 20517580 20517580 + Missense_Mutation SNP G G T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr1:20517580G>T c.526G>T c.(526-528)Gtc>Ttc p.V176F LUAD 1 20517691 20517691 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chr1:20517691C>A c.637C>A c.(637-639)Cgc>Agc p.R213S LUAD 1 20517886 20517886 + Missense_Mutation SNP G G T TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 g.chr1:20517886G>T c.832G>T c.(832-834)Ggg>Tgg p.G278W LUSC 1 20517189 20517189 + Silent SNP G G T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr1:20517189G>T c.135G>T c.(133-135)cgG>cgT p.R45R LUSC 1 20517269 20517269 + Missense_Mutation SNP A A G TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 g.chr1:20517269A>G c.215A>G c.(214-216)tAt>tGt p.Y72C OV 1 20517093 20517093 + Silent SNP G G A TCGA-13-0807-01B-02W-0421-09 TCGA-13-0807-10A-01W-0421-09 g.chr1:20517093G>A c.39G>A c.(37-39)gaG>gaA p.E13E PAAD 1 20517570 20517570 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:20517570G>T c.516G>T c.(514-516)agG>agT p.R172S PRAD 1 20517106 20517106 + Missense_Mutation SNP G G A TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 g.chr1:20517106G>A c.52G>A c.(52-54)Gtc>Atc p.V18I PRAD 1 20517520 20517520 + Missense_Mutation SNP A A G TCGA-EJ-A46G-01A-31D-A26M-08 TCGA-EJ-A46G-10A-01D-A26K-08 g.chr1:20517520A>G c.466A>G c.(466-468)Atg>Gtg p.M156V SARC 1 20517707 20517707 + Missense_Mutation SNP C C A TCGA-X9-A971-01A-11D-A387-09 TCGA-X9-A971-10A-01D-A38A-09 g.chr1:20517707C>A c.653C>A c.(652-654)aCa>aAa p.T218K SARC 1 20517768 20517768 + Silent SNP C C T TCGA-DX-A6BB-01A-12D-A32I-09 TCGA-DX-A6BB-10A-01D-A32I-09 g.chr1:20517768C>T c.714C>T c.(712-714)caC>caT p.H238H SKCM 1 20517071 20517071 + Missense_Mutation SNP C C T TCGA-EE-A2GT-06A-12D-A197-08 TCGA-EE-A2GT-10A-01D-A199-08 g.chr1:20517071C>T c.17C>T c.(16-18)cCt>cTt p.P6L SKCM 1 20517366 20517366 + Silent SNP C C T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr1:20517366C>T c.312C>T c.(310-312)ccC>ccT p.P104P SKCM 1 20517370 20517370 + Missense_Mutation SNP G G T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:20517370G>T c.316G>T c.(316-318)Ggg>Tgg p.G106W SKCM 1 20517436 20517436 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 g.chr1:20517436G>A c.382G>A c.(382-384)Gag>Aag p.E128K SKCM 1 20517560 20517560 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 g.chr1:20517560C>T c.506C>T c.(505-507)gCc>gTc p.A169V SKCM 1 20517564 20517564 + Silent SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr1:20517564G>A c.510G>A c.(508-510)gtG>gtA p.V170V SKCM 1 20517565 20517565 + Missense_Mutation SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr1:20517565G>A c.511G>A c.(511-513)Gag>Aag p.E171K SKCM 1 20517570 20517570 + Silent SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr1:20517570G>A c.516G>A c.(514-516)agG>agA p.R172R SKCM 1 20517684 20517684 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 g.chr1:20517684G>A c.630G>A c.(628-630)agG>agA p.R210R SKCM 1 20517722 20517722 + Missense_Mutation SNP C C T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 g.chr1:20517722C>T c.668C>T c.(667-669)aCc>aTc p.T223I SKCM 1 20517739 20517739 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:20517739G>A c.685G>A c.(685-687)Gaa>Aaa p.E229K SKCM 1 20517764 20517764 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr1:20517764G>A c.710G>A c.(709-711)cGa>cAa p.R237Q SKCM 1 20517807 20517807 + Missense_Mutation SNP T T A TCGA-FS-A4FD-06A-11D-A25O-08 TCGA-FS-A4FD-10B-01D-A25O-08 g.chr1:20517807T>A c.753T>A c.(751-753)ttT>ttA p.F251L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 1 20508728 20508728 single base substitution C T upstream_gene_variant BRCA-EU 1 20509275 20509275 single base substitution A C upstream_gene_variant BRCA-EU 1 20510065 20510065 single base substitution C T upstream_gene_variant BRCA-EU 1 20510756 20510756 single base substitution A G upstream_gene_variant BRCA-EU 1 20510967 20510967 single base substitution G C upstream_gene_variant BRCA-EU 1 20511761 20511761 single base substitution G A upstream_gene_variant BRCA-EU 1 20513394 20513394 deletion of <=200bp G - intron_variant BRCA-EU 1 20519841 20519841 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 20520107 20520107 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 20521136 20521136 deletion of <=200bp C - 3_prime_UTR_variant BRCA-EU 1 20521973 20521973 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 20522557 20522557 single base substitution C T downstream_gene_variant BRCA-EU 1 20525797 20525797 single base substitution A T downstream_gene_variant BRCA-EU 1 20526585 20526585 single base substitution C G downstream_gene_variant BRCA-EU 1 20526667 20526667 single base substitution G A downstream_gene_variant BRCA-EU 1 20526893 20526893 single base substitution G A downstream_gene_variant BRCA-EU 1 20527348 20527348 single base substitution G A downstream_gene_variant BRCA-FR 1 20513774 20513774 single base substitution C A intron_variant BRCA-FR 1 20521973 20521973 single base substitution G A 3_prime_UTR_variant BRCA-UK 1 20519841 20519841 single base substitution C G 3_prime_UTR_variant BRCA-UK 1 20526667 20526667 single base substitution G A downstream_gene_variant BRCA-UK 1 20527345 20527345 single base substitution G A downstream_gene_variant BRCA-UK 1 20527405 20527405 single base substitution C T downstream_gene_variant BRCA-US 1 20517545 20517545 single base substitution G C missense_variant R164T 491G>C CESC-US 1 20517712 20517712 single base substitution G A missense_variant D220N 658G>A COAD-US 1 20517188 20517188 single base substitution G A missense_variant R45Q 134G>A COAD-US 1 20517232 20517232 single base substitution G A missense_variant A60T 178G>A COAD-US 1 20517653 20517653 single base substitution T C missense_variant L200P 599T>C COCA-CN 1 20517803 20517803 single base substitution G A missense_variant R250Q 749G>A ESAD-UK 1 20508898 20508898 single base substitution C A upstream_gene_variant ESAD-UK 1 20512617 20512617 single base substitution C T 5_prime_UTR_variant ESAD-UK 1 20516038 20516038 single base substitution T G intron_variant ESAD-UK 1 20518390 20518390 single base substitution A G 3_prime_UTR_variant ESAD-UK 1 20519613 20519613 single base substitution A C 3_prime_UTR_variant ESAD-UK 1 20522753 20522753 single base substitution C T downstream_gene_variant ESAD-UK 1 20524854 20524854 single base substitution G A downstream_gene_variant KIRC-US 1 20517187 20517187 single base substitution C T missense_variant R45W 133C>T LGG-US 1 20517773 20517773 single base substitution G A missense_variant S240N 719G>A LIHC-US 1 20517817 20517817 single base substitution A C missense_variant T255P 763A>C LIRI-JP 1 20509181 20509181 single base substitution T G upstream_gene_variant LIRI-JP 1 20514811 20514811 single base substitution A G intron_variant LIRI-JP 1 20517862 20517862 single base substitution G C missense_variant G270R 808G>C LIRI-JP 1 20525649 20525649 single base substitution A G downstream_gene_variant LIRI-JP 1 20526472 20526472 single base substitution A G downstream_gene_variant LIRI-JP 1 20526506 20526506 single base substitution A G downstream_gene_variant LIRI-JP 1 20527313 20527313 single base substitution G A downstream_gene_variant LUSC-KR 1 20508276 20508276 single base substitution G T upstream_gene_variant LUSC-KR 1 20509414 20509414 single base substitution G T upstream_gene_variant LUSC-KR 1 20515532 20515532 single base substitution C A intron_variant LUSC-KR 1 20516150 20516150 single base substitution G T intron_variant LUSC-KR 1 20516340 20516340 single base substitution G T intron_variant LUSC-KR 1 20523458 20523458 single base substitution G A downstream_gene_variant LUSC-KR 1 20523492 20523492 single base substitution G C downstream_gene_variant LUSC-KR 1 20523614 20523614 single base substitution G A downstream_gene_variant LUSC-KR 1 20523726 20523726 single base substitution G T downstream_gene_variant LUSC-KR 1 20524536 20524536 single base substitution G A downstream_gene_variant LUSC-KR 1 20527184 20527184 single base substitution T A downstream_gene_variant LUSC-US 1 20517189 20517189 single base substitution G T synonymous_variant R45R 135G>T LUSC-US 1 20517269 20517269 single base substitution A G missense_variant Y72C 215A>G MALY-DE 1 20508779 20508779 insertion of <=200bp - T upstream_gene_variant MALY-DE 1 20513475 20513475 single base substitution C G intron_variant MALY-DE 1 20513524 20513524 single base substitution T G intron_variant MALY-DE 1 20514628 20514628 single base substitution C T intron_variant MALY-DE 1 20518882 20518882 single base substitution G A 3_prime_UTR_variant MALY-DE 1 20518945 20518945 single base substitution G A 3_prime_UTR_variant MALY-DE 1 20522622 20522622 single base substitution G A downstream_gene_variant MELA-AU 1 20507761 20507761 single base substitution C T upstream_gene_variant MELA-AU 1 20507976 20507976 single base substitution C T upstream_gene_variant MELA-AU 1 20508024 20508024 single base substitution C T upstream_gene_variant MELA-AU 1 20508171 20508171 single base substitution C T upstream_gene_variant MELA-AU 1 20508225 20508225 single base substitution G A upstream_gene_variant MELA-AU 1 20508443 20508443 single base substitution G A upstream_gene_variant MELA-AU 1 20508536 20508536 single base substitution C T upstream_gene_variant MELA-AU 1 20508654 20508654 single base substitution G A upstream_gene_variant MELA-AU 1 20508655 20508655 single base substitution G A upstream_gene_variant MELA-AU 1 20509112 20509112 single base substitution C T upstream_gene_variant MELA-AU 1 20509127 20509128 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 20509285 20509285 single base substitution G A upstream_gene_variant MELA-AU 1 20509319 20509319 single base substitution G A upstream_gene_variant MELA-AU 1 20509617 20509617 single base substitution G A upstream_gene_variant MELA-AU 1 20509710 20509710 single base substitution C T upstream_gene_variant MELA-AU 1 20509967 20509967 single base substitution C T upstream_gene_variant MELA-AU 1 20510063 20510063 single base substitution G A upstream_gene_variant MELA-AU 1 20510070 20510070 single base substitution G A upstream_gene_variant MELA-AU 1 20510221 20510221 single base substitution C T upstream_gene_variant MELA-AU 1 20511029 20511029 single base substitution C T upstream_gene_variant MELA-AU 1 20511064 20511064 single base substitution G A upstream_gene_variant MELA-AU 1 20511168 20511168 single base substitution G A upstream_gene_variant MELA-AU 1 20511297 20511297 single base substitution G A upstream_gene_variant MELA-AU 1 20511731 20511731 single base substitution C T upstream_gene_variant MELA-AU 1 20512097 20512097 single base substitution G A upstream_gene_variant MELA-AU 1 20512357 20512357 single base substitution G A upstream_gene_variant MELA-AU 1 20512526 20512527 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 20512947 20512947 single base substitution G A intron_variant MELA-AU 1 20513003 20513003 single base substitution G A intron_variant MELA-AU 1 20513375 20513375 single base substitution C T intron_variant MELA-AU 1 20514186 20514186 single base substitution C T intron_variant MELA-AU 1 20515090 20515090 single base substitution C T intron_variant MELA-AU 1 20515277 20515277 single base substitution C T intron_variant MELA-AU 1 20515951 20515951 single base substitution T G intron_variant MELA-AU 1 20515959 20515959 single base substitution C T intron_variant MELA-AU 1 20516146 20516146 single base substitution G A intron_variant MELA-AU 1 20516501 20516502 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 20516513 20516513 single base substitution C T intron_variant MELA-AU 1 20516686 20516686 single base substitution C T intron_variant MELA-AU 1 20517231 20517231 single base substitution C T synonymous_variant C59C 177C>T MELA-AU 1 20517449 20517449 single base substitution C T missense_variant T132I 395C>T MELA-AU 1 20517764 20517764 single base substitution G A missense_variant R237Q 710G>A MELA-AU 1 20517846 20517848 deletion of <=200bp CCA - inframe_deletion PH264P MELA-AU 1 20518104 20518104 single base substitution C T 3_prime_UTR_variant MELA-AU 1 20518163 20518163 single base substitution G A 3_prime_UTR_variant MELA-AU 1 20518176 20518176 single base substitution C T 3_prime_UTR_variant MELA-AU 1 20518532 20518532 single base substitution A T 3_prime_UTR_variant MELA-AU 1 20518590 20518590 single base substitution G A 3_prime_UTR_variant MELA-AU 1 20518813 20518813 single base substitution C T 3_prime_UTR_variant MELA-AU 1 20518839 20518839 single base substitution G A 3_prime_UTR_variant MELA-AU 1 20519137 20519137 single base substitution G A 3_prime_UTR_variant MELA-AU 1 20519460 20519460 single base substitution T C 3_prime_UTR_variant MELA-AU 1 20519470 20519470 single base substitution C T 3_prime_UTR_variant MELA-AU 1 20519753 20519753 single base substitution T G 3_prime_UTR_variant MELA-AU 1 20520247 20520247 single base substitution C T 3_prime_UTR_variant MELA-AU 1 20520327 20520327 single base substitution C T 3_prime_UTR_variant MELA-AU 1 20521243 20521243 single base substitution C T 3_prime_UTR_variant MELA-AU 1 20521708 20521708 single base substitution C T 3_prime_UTR_variant MELA-AU 1 20521977 20521977 single base substitution G A 3_prime_UTR_variant MELA-AU 1 20522015 20522015 single base substitution G A 3_prime_UTR_variant MELA-AU 1 20522179 20522179 single base substitution C T 3_prime_UTR_variant MELA-AU 1 20522188 20522188 single base substitution G A 3_prime_UTR_variant MELA-AU 1 20522208 20522208 single base substitution G T 3_prime_UTR_variant MELA-AU 1 20522417 20522417 single base substitution C T 3_prime_UTR_variant MELA-AU 1 20522488 20522488 single base substitution G A 3_prime_UTR_variant MELA-AU 1 20522529 20522529 single base substitution C T 3_prime_UTR_variant MELA-AU 1 20522664 20522664 single base substitution C T downstream_gene_variant MELA-AU 1 20522839 20522839 single base substitution C T downstream_gene_variant MELA-AU 1 20523611 20523611 single base substitution G A downstream_gene_variant MELA-AU 1 20523828 20523828 single base substitution G A downstream_gene_variant MELA-AU 1 20523831 20523831 single base substitution G A downstream_gene_variant MELA-AU 1 20523907 20523907 single base substitution G A downstream_gene_variant MELA-AU 1 20523957 20523957 single base substitution T G downstream_gene_variant MELA-AU 1 20524094 20524094 single base substitution G A downstream_gene_variant MELA-AU 1 20524185 20524185 single base substitution G A downstream_gene_variant MELA-AU 1 20524988 20524988 single base substitution G A downstream_gene_variant MELA-AU 1 20525097 20525097 single base substitution C T downstream_gene_variant MELA-AU 1 20525352 20525352 single base substitution C T downstream_gene_variant MELA-AU 1 20525364 20525375 deletion of <=200bp ATGGTCTTGAAC - downstream_gene_variant MELA-AU 1 20525442 20525442 single base substitution G A downstream_gene_variant MELA-AU 1 20525681 20525681 single base substitution C G downstream_gene_variant MELA-AU 1 20525747 20525747 single base substitution G A downstream_gene_variant MELA-AU 1 20525808 20525808 single base substitution A T downstream_gene_variant MELA-AU 1 20526057 20526057 single base substitution C T downstream_gene_variant MELA-AU 1 20526128 20526128 single base substitution C T downstream_gene_variant MELA-AU 1 20526281 20526281 single base substitution G A downstream_gene_variant MELA-AU 1 20526471 20526471 single base substitution G A downstream_gene_variant MELA-AU 1 20526595 20526595 single base substitution C T downstream_gene_variant MELA-AU 1 20526622 20526622 single base substitution C T downstream_gene_variant MELA-AU 1 20526701 20526701 single base substitution G A downstream_gene_variant MELA-AU 1 20526793 20526793 single base substitution G A downstream_gene_variant MELA-AU 1 20526859 20526859 single base substitution C T downstream_gene_variant MELA-AU 1 20527002 20527002 single base substitution C T downstream_gene_variant MELA-AU 1 20527137 20527137 single base substitution G A downstream_gene_variant MELA-AU 1 20527288 20527288 single base substitution G A downstream_gene_variant MELA-AU 1 20527433 20527433 single base substitution C T downstream_gene_variant ORCA-IN 1 20517380 20517380 single base substitution C T missense_variant S109F 326C>T ORCA-IN 1 20524243 20524243 single base substitution G A downstream_gene_variant OV-AU 1 20509169 20509169 single base substitution T C upstream_gene_variant OV-AU 1 20514808 20514808 single base substitution G T intron_variant OV-US 1 20517093 20517093 single base substitution G A synonymous_variant E13E 39G>A PACA-AU 1 20508032 20508032 single base substitution C T upstream_gene_variant PACA-AU 1 20509732 20509732 single base substitution C A upstream_gene_variant PACA-AU 1 20514912 20514912 single base substitution G C intron_variant PACA-AU 1 20517490 20517490 single base substitution C T missense_variant R146W 436C>T PACA-AU 1 20517668 20517668 single base substitution C G stop_gained S205* 614C>G PACA-AU 1 20517701 20517701 single base substitution G A missense_variant R216Q 647G>A PACA-AU 1 20525696 20525696 single base substitution A G downstream_gene_variant PACA-CA 1 20508637 20508637 insertion of <=200bp - T upstream_gene_variant PACA-CA 1 20510543 20510543 deletion of <=200bp C - upstream_gene_variant PACA-CA 1 20511714 20511714 single base substitution A G upstream_gene_variant PACA-CA 1 20516599 20516599 single base substitution T G intron_variant PACA-CA 1 20517816 20517816 single base substitution C T synonymous_variant L254L 762C>T PACA-CA 1 20519676 20519676 single base substitution T C 3_prime_UTR_variant PACA-CA 1 20524121 20524121 single base substitution T C downstream_gene_variant PACA-CA 1 20524373 20524373 insertion of <=200bp - A downstream_gene_variant PACA-CA 1 20524400 20524400 single base substitution G T downstream_gene_variant PACA-CA 1 20526557 20526557 single base substitution C T downstream_gene_variant PBCA-DE 1 20526631 20526631 single base substitution C T downstream_gene_variant PRAD-CA 1 20512534 20512534 single base substitution G T upstream_gene_variant PRAD-CA 1 20512578 20512578 single base substitution G A 5_prime_UTR_variant PRAD-CA 1 20518301 20518301 single base substitution C A 3_prime_UTR_variant PRAD-CA 1 20523372 20523372 single base substitution T C downstream_gene_variant PRAD-UK 1 20508228 20508228 single base substitution T A upstream_gene_variant PRAD-UK 1 20508424 20508424 single base substitution G A upstream_gene_variant PRAD-US 1 20517520 20517520 single base substitution A G missense_variant M156V 466A>G RECA-EU 1 20511100 20511100 single base substitution C A upstream_gene_variant RECA-EU 1 20522388 20522388 single base substitution T A 3_prime_UTR_variant RECA-EU 1 20524374 20524374 single base substitution T A downstream_gene_variant RECA-EU 1 20525611 20525611 single base substitution T C downstream_gene_variant SKCA-BR 1 20509492 20509492 single base substitution C T upstream_gene_variant SKCA-BR 1 20515064 20515064 single base substitution G A intron_variant SKCA-BR 1 20520421 20520421 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 20521424 20521424 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 20521823 20521823 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 20522671 20522671 single base substitution C T downstream_gene_variant SKCA-BR 1 20522994 20522994 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 1 20524457 20524457 single base substitution C T downstream_gene_variant SKCA-BR 1 20525657 20525657 single base substitution C T downstream_gene_variant SKCA-BR 1 20526827 20526827 single base substitution C T downstream_gene_variant SKCA-BR 1 20527433 20527433 single base substitution C T downstream_gene_variant SKCM-US 1 20517071 20517071 single base substitution C T missense_variant P6L 17C>T SKCM-US 1 20517366 20517366 single base substitution C T synonymous_variant P104P 312C>T SKCM-US 1 20517370 20517370 single base substitution G T missense_variant G106W 316G>T SKCM-US 1 20517436 20517436 single base substitution G A missense_variant E128K 382G>A SKCM-US 1 20517570 20517570 single base substitution G A synonymous_variant R172R 516G>A SKCM-US 1 20517684 20517684 single base substitution G A synonymous_variant R210R 630G>A SKCM-US 1 20517739 20517739 single base substitution G A missense_variant E229K 685G>A SKCM-US 1 20517764 20517764 single base substitution G A missense_variant R237Q 710G>A SKCM-US 1 20517807 20517807 single base substitution T A missense_variant F251L 753T>A STAD-US 1 20517261 20517261 single base substitution C A synonymous_variant A69A 207C>A STAD-US 1 20517393 20517393 single base substitution G C missense_variant K113N 339G>C STAD-US 1 20517794 20517794 single base substitution C A missense_variant P247H 740C>A THCA-SA 1 20519808 20519808 single base substitution G A 3_prime_UTR_variant UCEC-US 1 20517120 20517120 single base substitution T C synonymous_variant V22V 66T>C UCEC-US 1 20517177 20517177 single base substitution C T synonymous_variant S41S 123C>T UCEC-US 1 20517541 20517541 single base substitution T A missense_variant S163T 487T>A UCEC-US 1 20517580 20517580 single base substitution G A missense_variant V176I 526G>A UCEC-US 1 20517824 20517824 single base substitution C A missense_variant S257Y 770C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand YUJUBE COSM2215044 c.525C>T p.I175I Substitution - coding silent 1:20191086-20191086 + TCGA-HP-A5N0-01 COSM4942189 c.763A>C p.T255P Substitution - Missense 1:20191324-20191324 + TCGA-BR-8487-01 COSM4027405 c.207C>A p.A69A Substitution - coding silent 1:20190768-20190768 + S00501 COSM316345 c.100delA p.M34fs*3 Deletion - Frameshift 1:20190661-20190661 + TCGA-33-4532-01 COSM677948 c.135G>T p.R45R Substitution - coding silent 1:20190696-20190696 + TCGA-AX-A05Z-01 COSM902742 c.526G>A p.V176I Substitution - Missense 1:20191087-20191087 + 2492729 COSM226898 c.605C>T p.A202V Substitution - Missense 1:20191166-20191166 + 35M COSM5582981 c.352C>T p.P118S Substitution - Missense 1:20190913-20190913 + 8061176 COSM3385668 c.436C>T p.R146W Substitution - Missense 1:20190997-20190997 + TCGA-BR-8487-01 COSM4027406 c.339G>C p.K113N Substitution - Missense 1:20190900-20190900 + S02344 COSM3385668 c.436C>T p.R146W Substitution - Missense 1:20190997-20190997 + 8016470 COSM3385670 c.647G>A p.R216Q Substitution - Missense 1:20191208-20191208 + TCGA-FS-A4FD-06 COSM3482166 c.753T>A p.F251L Substitution - Missense 1:20191314-20191314 + pfg129T COSM4750897 c.166G>A p.V56M Substitution - Missense 1:20190727-20190727 + RK254_C01 COSM4945636 c.808G>C p.G270R Substitution - Missense 1:20191369-20191369 + TCGA-13-0807-01 COSM81880 c.39G>A p.E13E Substitution - coding silent 1:20190600-20190600 + YUKAT COSM5379355 c.537G>A p.K179K Substitution - coding silent 1:20191098-20191098 + TCGA-HU-A4GT-01 COSM4027407 c.740C>A p.P247H Substitution - Missense 1:20191301-20191301 + 1N60-VS-1T60 COSM4977627 c.360C>T p.I120I Substitution - coding silent 1:20190921-20190921 + TCGA-EE-A2GT-06 COSM3482159 c.17C>T p.P6L Substitution - Missense 1:20190578-20190578 + TCGA-AP-A0LE-01 COSM902741 c.487T>A p.S163T Substitution - Missense 1:20191048-20191048 + PTC-14C COSM4143261 c.54C>A p.V18V Substitution - coding silent 1:20190615-20190615 + TCGA-GN-A267-06 COSM3482162 c.382G>A p.E128K Substitution - Missense 1:20190943-20190943 + SNUH_G73_S1 COSM4415961 c.454G>A p.E152K Substitution - Missense 1:20191015-20191015 + LUAD-YINHD COSM349935 c.162G>A p.Q54Q Substitution - coding silent 1:20190723-20190723 + T1154 COSM4738977 c.748C>T p.R250* Substitution - Nonsense 1:20191309-20191309 + TCGA-AD-5900-01 COSM1338226 c.599T>C p.L200P Substitution - Missense 1:20191160-20191160 + ME030T COSM226898 c.605C>T p.A202V Substitution - Missense 1:20191166-20191166 + cSCCP6 COSM136100 c.158C>T p.S53F Substitution - Missense 1:20190719-20190719 + TCGA-CZ-5451-01 COSM463812 c.587A>G p.E196G Substitution - Missense 1:20191148-20191148 + PCSI_0024_Pa_P COSM3376945 c.762C>T p.L254L Substitution - coding silent 1:20191323-20191323 + 1953_T COSM3976888 c.165C>A p.G55G Substitution - coding silent 1:20190726-20190726 + TCGA-A6-6781-01 COSM1338220 c.134G>A p.R45Q Substitution - Missense 1:20190695-20190695 + TCGA-EE-A2GB-06 COSM3482165 c.710G>A p.R237Q Substitution - Missense 1:20191271-20191271 + 8047893 COSM3385669 c.614C>G p.S205* Substitution - Nonsense 1:20191175-20191175 + LUAD-B02216 COSM335541 c.711A>G p.R237R Substitution - coding silent 1:20191272-20191272 + T388 COSM4738978 c.816A>C p.S272S Substitution - coding silent 1:20191377-20191377 + LC_S19 COSM1185356 c.292G>C p.E98Q Substitution - Missense 1:20190853-20190853 + CSCC-27-T COSM4508310 c.770C>T p.S257F Substitution - Missense 1:20191331-20191331 + S00501 COSM316345 c.100delA p.M34fs*3 Deletion - Frameshift 1:20190661-20190661 + CSCC-17-T COSM4497847 c.506C>G p.A169G Substitution - Missense 1:20191067-20191067 + PCSI_0024_Pa_C COSM3376945 c.762C>T p.L254L Substitution - coding silent 1:20191323-20191323 + TCGA-DU-6396-01 COSM3966204 c.719G>A p.S240N Substitution - Missense 1:20191280-20191280 + TCGA-A5-A0VP-01 COSM902739 c.66T>C p.V22V Substitution - coding silent 1:20190627-20190627 + 55 COSM5010493 c.72C>A p.S24R Substitution - Missense 1:20190633-20190633 + TCGA-AC-A23H-01 COSM3803606 c.491G>C p.R164T Substitution - Missense 1:20191052-20191052 + YUKLAB COSM1687124 c.140G>A p.R47K Substitution - Missense 1:20190701-20190701 + TCGA-EE-A2MR-06 COSM3482161 c.316G>T p.G106W Substitution - Missense 1:20190877-20190877 + TCGA-B5-A11Y-01 COSM902740 c.123C>T p.S41S Substitution - coding silent 1:20190684-20190684 + TCGA-66-2789-01 COSM677947 c.215A>G p.Y72C Substitution - Missense 1:20190776-20190776 + RMS10_ COSM4985991 c.287T>A p.I96N Substitution - Missense 1:20190848-20190848 + TCGA-CJ-4905-01 COSM463811 c.133C>T p.R45W Substitution - Missense 1:20190694-20190694 + TCGA-FW-A3R5-06 COSM3864241 c.685G>A p.E229K Substitution - Missense 1:20191246-20191246 + TCGA-D3-A2JF-06 COSM3482163 c.516G>A p.R172R Substitution - coding silent 1:20191077-20191077 + LIM2551 COSM4643634 c.637C>T p.R213C Substitution - Missense 1:20191198-20191198 + T2269 COSM4738976 c.537G>T p.K179N Substitution - Missense 1:20191098-20191098 + TCGA-ER-A19G-06 COSM3482160 c.312C>T p.P104P Substitution - coding silent 1:20190873-20190873 + OV207 COSM252903 c.79T>C p.W27R Substitution - Missense 1:20190640-20190640 + ESCC_151 COSM5645083 c.28G>A p.A10T Substitution - Missense 1:20190589-20190589 + YULETA COSM1687125 c.668C>T p.T223I Substitution - Missense 1:20191229-20191229 + 3N08-VS-3T08 COSM4978957 c.670A>G p.I224V Substitution - Missense 1:20191231-20191231 + 2521259 COSM5889631 c.511G>A p.E171K Substitution - Missense 1:20191072-20191072 + KM12 COSM2215038 c.310C>T p.P104S Substitution - Missense 1:20190871-20190871 + TCGA-EK-A2R8-01 COSM4822589 c.658G>A p.D220N Substitution - Missense 1:20191219-20191219 + YUAKER COSM1687125 c.668C>T p.T223I Substitution - Missense 1:20191229-20191229 + TCGA-EJ-A46G-01 COSM3782421 c.466A>G p.M156V Substitution - Missense 1:20191027-20191027 + LUAD-B02594 COSM356415 c.108G>T p.M36I Substitution - Missense 1:20190669-20190669 + PCSI_0024_Pa_X COSM3376945 c.762C>T p.L254L Substitution - coding silent 1:20191323-20191323 + TCGA-CM-6674-01 COSM1338222 c.178G>A p.A60T Substitution - Missense 1:20190739-20190739 + PT52 COSM5453307 c.749G>A p.R250Q Substitution - Missense 1:20191310-20191310 + TCGA-B5-A0JY-01 COSM902743 c.770C>A p.S257Y Substitution - Missense 1:20191331-20191331 + OSCC-GB_01060111 COSM4882629 c.326C>T p.S109F Substitution - Missense 1:20190887-20190887 + TCGA-EE-A2GS-06 COSM3482164 c.630G>A p.R210R Substitution - coding silent 1:20191191-20191191 + YULOCUS COSM5379354 c.142C>T p.P48S Substitution - Missense 1:20190703-20190703 + 353 COSM3385668 c.436C>T p.R146W Substitution - Missense 1:20190997-20190997 + sysucc-810T COSM5453307 c.749G>A p.R250Q Substitution - Missense 1:20191310-20191310 + 19M COSM5579929 c.254C>T p.P85L Substitution - Missense 1:20190815-20190815 + 587346 COSM1231642 c.113G>T p.R38M Substitution - Missense 1:20190674-20190674 + LUAD-E00443 COSM363552 c.827G>T p.G276V Substitution - Missense 1:20191388-20191388 + pfg054T COSM4750898 c.800C>A p.S267Y Substitution - Missense 1:20191361-20191361 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.432503 1p36.12

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.M34Cfs*3 c.100delA 1 20517154 SCLC A G Missense p.M156V c.466A>G 1 20517520 PRAD A G Missense p.Y72C c.215A>G 1 20517269 LUSC C A Missense p.R213S c.637C>A 1 20517691 LUAD C T Missense p.A202V c.605C>T 1 20517659 CM C T Missense p.P64L c.191C>T 1 20517245 LUAD C T Missense p.P6L c.17C>T 1 20517071 CM C T Missense p.R45W c.133C>T 1 20517187 RCCC C T Synonymous p.L258L c.772C>T 1 20517826 CM C T Synonymous p.P104P c.312C>T 1 20517366 CM C T Synonymous p.S41S c.123C>T 1 20517177 UCEC G A Missense p.A2T c.4G>A 1 20517058 HNSC G A Missense p.E126K c.376G>A 1 20517430 CM G A Missense p.E128K c.382G>A 1 20517436 CM G A Missense p.R237Q c.710G>A 1 20517764 CM G A Missense p.R45Q c.134G>A 1 20517188 STAD G A Missense p.S240N c.719G>A 1 20517773 LGG G A Missense p.V133I c.397G>A 1 20517451 COREAD G A Synonymous p.E13E c.39G>A 1 20517093 OV G A Synonymous p.R172R c.516G>A 1 20517570 CM G A Synonymous p.R210R c.630G>A 1 20517684 CM GG AA Missense p.E171K c.510_511delinsAA 1 20517564 CM G T Missense p.G278W c.832G>T 1 20517886 LUAD G T Synonymous p.R45R c.135G>T 1 20517189 LUSC - T 3-UTRInsertion . c.840+2070dupT 1 20519955 HC T A Missense p.S163T c.487T>A 1 20517541 UCEC T C Synonymous p.V22V c.66T>C 1 20517120 UCEC