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 16 20871409 20871409 + Silent SNP G G A TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr16:20871409G>A c.714C>T c.(712-714)atC>atT p.I238I BLCA 16 20871575 20871575 + Missense_Mutation SNP T T C TCGA-K4-AAQO-01A-11D-A38G-08 TCGA-K4-AAQO-10A-01D-A38J-08 g.chr16:20871575T>C c.548A>G c.(547-549)tAc>tGc p.Y183C BLCA 16 20871597 20871597 + Nonsense_Mutation SNP C C A TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 g.chr16:20871597C>A c.526G>T c.(526-528)Gag>Tag p.E176* BLCA 16 20871598 20871598 + Silent SNP T T C TCGA-ZF-A9RD-01A-11D-A42E-08 TCGA-ZF-A9RD-10A-01D-A42H-08 g.chr16:20871598T>C c.525A>G c.(523-525)caA>caG p.Q175Q BRCA 16 20871508 20871508 + Silent SNP G G T TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr16:20871508G>T c.615C>A c.(613-615)gcC>gcA p.A205A BRCA 16 20873485 20873485 + Nonsense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr16:20873485G>A c.376C>T c.(376-378)Cga>Tga p.R126* BRCA 16 20873624 20873624 + Silent SNP G G A TCGA-OL-A5RU-01A-11D-A28B-09 TCGA-OL-A5RU-10A-01D-A28E-09 g.chr16:20873624G>A c.237C>T c.(235-237)tcC>tcT p.S79S BRCA 16 20873717 20873717 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr16:20873717A>C c.144T>G c.(142-144)ggT>ggG p.G48G CESC 16 20871284 20871284 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr16:20871284C>T c.839G>A c.(838-840)cGa>cAa p.R280Q CESC 16 20871455 20871455 + Missense_Mutation SNP T T C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr16:20871455T>C c.668A>G c.(667-669)cAa>cGa p.Q223R CESC 16 20873536 20873536 + Nonsense_Mutation SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 g.chr16:20873536C>A c.325G>T c.(325-327)Gaa>Taa p.E109* CHOL 16 20871607 20871607 + Frame_Shift_Del DEL T T - TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr16:20871607delT c.516delA c.(514-516)gaafs p.E172fs COAD 16 20871444 20871444 + Missense_Mutation SNP A A C TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr16:20871444A>C c.679T>G c.(679-681)Ttc>Gtc p.F227V COAD 16 20871510 20871510 + Missense_Mutation SNP C C T TCGA-A6-6649-01A-11D-1771-10 TCGA-A6-6649-10A-01D-1771-10 g.chr16:20871510C>T c.613G>A c.(613-615)Gcc>Acc p.A205T COAD 16 20871525 20871525 + Missense_Mutation SNP G G T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr16:20871525G>T c.598C>A c.(598-600)Ctg>Atg p.L200M COAD 16 20871559 20871559 + Missense_Mutation SNP C C A TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr16:20871559C>A c.564G>T c.(562-564)caG>caT p.Q188H COAD 16 20871560 20871560 + Missense_Mutation SNP T T C TCGA-DM-A1DB-01A-11D-A152-10 TCGA-DM-A1DB-10A-01D-A152-10 g.chr16:20871560T>C c.563A>G c.(562-564)cAg>cGg p.Q188R COAD 16 20873513 20873513 + Silent SNP A A G TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr16:20873513A>G c.348T>C c.(346-348)aaT>aaC p.N116N COAD 16 20873513 20873513 + Silent SNP A A G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr16:20873513A>G c.348T>C c.(346-348)aaT>aaC p.N116N COAD 16 20873524 20873524 + Missense_Mutation SNP G G A TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr16:20873524G>A c.337C>T c.(337-339)Cgc>Tgc p.R113C COAD 16 20873699 20873699 + Silent SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr16:20873699G>A c.162C>T c.(160-162)aaC>aaT p.N54N COADREAD 16 20871444 20871444 + Missense_Mutation SNP A A C TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr16:20871444A>C c.679T>G c.(679-681)Ttc>Gtc p.F227V COADREAD 16 20871510 20871510 + Missense_Mutation SNP C C T TCGA-A6-6649-01A-11D-1771-10 TCGA-A6-6649-10A-01D-1771-10 g.chr16:20871510C>T c.613G>A c.(613-615)Gcc>Acc p.A205T COADREAD 16 20871525 20871525 + Missense_Mutation SNP G G T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr16:20871525G>T c.598C>A c.(598-600)Ctg>Atg p.L200M COADREAD 16 20871559 20871559 + Missense_Mutation SNP C C A TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr16:20871559C>A c.564G>T c.(562-564)caG>caT p.Q188H COADREAD 16 20871560 20871560 + Missense_Mutation SNP T T C TCGA-DM-A1DB-01A-11D-A152-10 TCGA-DM-A1DB-10A-01D-A152-10 g.chr16:20871560T>C c.563A>G c.(562-564)cAg>cGg p.Q188R COADREAD 16 20871560 20871560 + Missense_Mutation SNP T T C TCGA-F5-6811-01A-11D-1826-10 TCGA-F5-6811-10A-01D-1826-10 g.chr16:20871560T>C c.563A>G c.(562-564)cAg>cGg p.Q188R COADREAD 16 20873513 20873513 + Silent SNP A A G TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr16:20873513A>G c.348T>C c.(346-348)aaT>aaC p.N116N COADREAD 16 20873513 20873513 + Silent SNP A A G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr16:20873513A>G c.348T>C c.(346-348)aaT>aaC p.N116N COADREAD 16 20873524 20873524 + Missense_Mutation SNP G G A TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr16:20873524G>A c.337C>T c.(337-339)Cgc>Tgc p.R113C COADREAD 16 20873699 20873699 + Silent SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr16:20873699G>A c.162C>T c.(160-162)aaC>aaT p.N54N ESCA 16 20873771 20873771 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 g.chr16:20873771G>T c.90C>A c.(88-90)agC>agA p.S30R GBMLGG 16 20871683 20871683 + Missense_Mutation SNP A A C TCGA-S9-A89Z-01A-11D-A36O-08 TCGA-S9-A89Z-10A-01D-A367-08 g.chr16:20871683A>C c.440T>G c.(439-441)tTt>tGt p.F147C HNSC 16 20871316 20871316 + Silent SNP G G C TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 g.chr16:20871316G>C c.807C>G c.(805-807)ctC>ctG p.L269L HNSC 16 20871437 20871437 + Missense_Mutation SNP G G A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 g.chr16:20871437G>A c.686C>T c.(685-687)aCa>aTa p.T229I HNSC 16 20871625 20871625 + Silent SNP G G A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 g.chr16:20871625G>A c.498C>T c.(496-498)ttC>ttT p.F166F HNSC 16 20873495 20873495 + Silent SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 g.chr16:20873495G>T c.366C>A c.(364-366)ccC>ccA p.P122P HNSC 16 20873496 20873496 + Missense_Mutation SNP G G T TCGA-CV-6960-01A-41D-2012-08 TCGA-CV-6960-10A-01D-2013-08 g.chr16:20873496G>T c.365C>A c.(364-366)cCc>cAc p.P122H KICH 16 20873571 20873571 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr16:20873571C>T c.290G>A c.(289-291)cGc>cAc p.R97H KIPAN 16 20871211 20871211 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr16:20871211A>G c.912T>C c.(910-912)acT>acC p.T304T KIPAN 16 20871250 20871250 + Silent SNP G G A TCGA-F9-A4JJ-01A-11D-A25F-10 TCGA-F9-A4JJ-10A-01D-A25F-10 g.chr16:20871250G>A c.873C>T c.(871-873)ctC>ctT p.L291L KIPAN 16 20871576 20871576 + Missense_Mutation SNP A A G TCGA-B0-4827-01A-02D-1421-08 TCGA-B0-4827-11A-01D-1421-08 g.chr16:20871576A>G c.547T>C c.(547-549)Tac>Cac p.Y183H KIPAN 16 20873571 20873571 + Missense_Mutation SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr16:20873571C>T c.290G>A c.(289-291)cGc>cAc p.R97H KIRC 16 20871211 20871211 + Silent SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr16:20871211A>G c.912T>C c.(910-912)acT>acC p.T304T KIRC 16 20871576 20871576 + Missense_Mutation SNP A A G TCGA-B0-4827-01A-02D-1421-08 TCGA-B0-4827-11A-01D-1421-08 g.chr16:20871576A>G c.547T>C c.(547-549)Tac>Cac p.Y183H KIRP 16 20871250 20871250 + Silent SNP G G A TCGA-F9-A4JJ-01A-11D-A25F-10 TCGA-F9-A4JJ-10A-01D-A25F-10 g.chr16:20871250G>A c.873C>T c.(871-873)ctC>ctT p.L291L LGG 16 20871683 20871683 + Missense_Mutation SNP A A C TCGA-S9-A89Z-01A-11D-A36O-08 TCGA-S9-A89Z-10A-01D-A367-08 g.chr16:20871683A>C c.440T>G c.(439-441)tTt>tGt p.F147C LIHC 16 20871607 20871607 + Missense_Mutation SNP T T A TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr16:20871607T>A c.516A>T c.(514-516)gaA>gaT p.E172D LUAD 16 20871245 20871245 + Missense_Mutation SNP G G A TCGA-62-8398-01A-11D-2323-08 TCGA-62-8398-10A-01D-2323-08 g.chr16:20871245G>A c.878C>T c.(877-879)tCa>tTa p.S293L LUAD 16 20871266 20871267 + Frame_Shift_Ins INS - - C TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr16:20871266_20871267insC c.856_857insG c.(856-858)gaafs p.E286fs LUAD 16 20871399 20871399 + Missense_Mutation SNP T T A TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr16:20871399T>A c.724A>T c.(724-726)Act>Tct p.T242S LUAD 16 20871675 20871675 + Missense_Mutation SNP C C A TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 g.chr16:20871675C>A c.448G>T c.(448-450)Ggc>Tgc p.G150C LUAD 16 20873563 20873563 + Missense_Mutation SNP C C G TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr16:20873563C>G c.298G>C c.(298-300)Gat>Cat p.D100H LUAD 16 20873760 20873760 + Missense_Mutation SNP G G A TCGA-17-Z017-01A-01W-0746-08 TCGA-17-Z017-11A-01W-0746-08 g.chr16:20873760G>A c.101C>T c.(100-102)gCa>gTa p.A34V LUSC 16 20873630 20873630 + Silent SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr16:20873630C>T c.231G>A c.(229-231)agG>agA p.R77R OV 16 20871561 20871561 + Missense_Mutation SNP G G T TCGA-13-0886-01A-01W-0420-08 TCGA-13-0886-10A-01D-0399-08 g.chr16:20871561G>T c.562C>A c.(562-564)Cag>Aag p.Q188K OV 16 20873513 20873513 + Silent SNP A A G TCGA-04-1356-01A-01W-0492-08 TCGA-04-1356-11A-01W-0492-08 g.chr16:20873513A>G c.348T>C c.(346-348)aaT>aaC p.N116N PAAD 16 20871273 20871273 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:20871273C>T c.850G>A c.(850-852)Gaa>Aaa p.E284K READ 16 20871560 20871560 + Missense_Mutation SNP T T C TCGA-F5-6811-01A-11D-1826-10 TCGA-F5-6811-10A-01D-1826-10 g.chr16:20871560T>C c.563A>G c.(562-564)cAg>cGg p.Q188R SKCM 16 20871384 20871384 + Missense_Mutation SNP G G A TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr16:20871384G>A c.739C>T c.(739-741)Ctt>Ttt p.L247F SKCM 16 20871407 20871407 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:20871407G>A c.716C>T c.(715-717)tCc>tTc p.S239F SKCM 16 20871470 20871470 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr16:20871470G>A c.653C>T c.(652-654)cCt>cTt p.P218L SKCM 16 20871471 20871471 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr16:20871471G>A c.652C>T c.(652-654)Cct>Tct p.P218S SKCM 16 20871502 20871502 + Silent SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr16:20871502G>A c.621C>T c.(619-621)gcC>gcT p.A207A SKCM 16 20873521 20873521 + Missense_Mutation SNP A A C TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 g.chr16:20873521A>C c.340T>G c.(340-342)Ttt>Gtt p.F114V SKCM 16 20873618 20873618 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr16:20873618G>A c.243C>T c.(241-243)tcC>tcT p.S81S SKCM 16 20873619 20873619 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr16:20873619G>A c.242C>T c.(241-243)tCc>tTc p.S81F SKCM 16 20873685 20873685 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:20873685G>A c.176C>T c.(175-177)gCc>gTc p.A59V

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 16 20861946 20861946 single base substitution T G downstream_gene_variant BRCA-EU 16 20862290 20862290 single base substitution A T downstream_gene_variant BRCA-EU 16 20862321 20862321 single base substitution T C downstream_gene_variant BRCA-EU 16 20862844 20862844 single base substitution A G downstream_gene_variant BRCA-EU 16 20863031 20863031 single base substitution C G downstream_gene_variant BRCA-EU 16 20863222 20863222 single base substitution G T downstream_gene_variant BRCA-EU 16 20865534 20865534 single base substitution A G downstream_gene_variant BRCA-EU 16 20865696 20865696 single base substitution T A downstream_gene_variant BRCA-EU 16 20866853 20866853 single base substitution G A 3_prime_UTR_variant BRCA-EU 16 20866853 20866853 single base substitution G A downstream_gene_variant BRCA-EU 16 20866875 20866875 single base substitution G A 3_prime_UTR_variant BRCA-EU 16 20866875 20866875 single base substitution G A downstream_gene_variant BRCA-EU 16 20866914 20866914 single base substitution G C 3_prime_UTR_variant BRCA-EU 16 20866914 20866914 single base substitution G C downstream_gene_variant BRCA-EU 16 20867078 20867078 single base substitution C T 3_prime_UTR_variant BRCA-EU 16 20867078 20867078 single base substitution C T downstream_gene_variant BRCA-EU 16 20867768 20867768 single base substitution C G 3_prime_UTR_variant BRCA-EU 16 20867768 20867768 single base substitution C G downstream_gene_variant BRCA-EU 16 20867869 20867869 single base substitution G T 3_prime_UTR_variant BRCA-EU 16 20867869 20867869 single base substitution G T downstream_gene_variant BRCA-EU 16 20871245 20871245 single base substitution G C stop_gained S293* 878C>G BRCA-EU 16 20871284 20871284 single base substitution C G missense_variant R280P 839G>C BRCA-EU 16 20871619 20871619 single base substitution G C missense_variant S168R 504C>G BRCA-EU 16 20872248 20872248 single base substitution C T intron_variant BRCA-EU 16 20872318 20872318 single base substitution C A intron_variant BRCA-EU 16 20872651 20872651 single base substitution C T intron_variant BRCA-EU 16 20873724 20873724 single base substitution T G missense_variant K46T 137A>C BRCA-EU 16 20879080 20879080 single base substitution G A intron_variant BRCA-EU 16 20881273 20881273 single base substitution G A intron_variant BRCA-EU 16 20881273 20881273 single base substitution G A upstream_gene_variant BRCA-EU 16 20881973 20881973 single base substitution C G intron_variant BRCA-EU 16 20881973 20881973 single base substitution C G upstream_gene_variant BRCA-EU 16 20882146 20882146 single base substitution C G intron_variant BRCA-EU 16 20882146 20882146 single base substitution C G upstream_gene_variant BRCA-EU 16 20883584 20883584 single base substitution T A intron_variant BRCA-EU 16 20883584 20883584 single base substitution T A upstream_gene_variant BRCA-EU 16 20885402 20885402 single base substitution C G intron_variant BRCA-EU 16 20885645 20885645 single base substitution C T intron_variant BRCA-EU 16 20886839 20886839 single base substitution C T intron_variant BRCA-EU 16 20887301 20887301 single base substitution T A intron_variant BRCA-EU 16 20887626 20887626 single base substitution A T intron_variant BRCA-EU 16 20888246 20888246 single base substitution C G intron_variant BRCA-EU 16 20889452 20889452 single base substitution C A intron_variant BRCA-EU 16 20889545 20889545 single base substitution C T intron_variant BRCA-EU 16 20890890 20890890 single base substitution A G intron_variant BRCA-EU 16 20890976 20890976 single base substitution C T intron_variant BRCA-EU 16 20892011 20892011 single base substitution G C intron_variant BRCA-EU 16 20892131 20892131 single base substitution G A intron_variant BRCA-EU 16 20892271 20892271 deletion of <=200bp T - intron_variant BRCA-EU 16 20892271 20892272 deletion of <=200bp TT - intron_variant BRCA-EU 16 20894253 20894253 single base substitution T A intron_variant BRCA-EU 16 20896249 20896249 single base substitution T C intron_variant BRCA-EU 16 20896321 20896321 single base substitution C T intron_variant BRCA-EU 16 20901397 20901397 single base substitution A T intron_variant BRCA-EU 16 20901792 20901792 deletion of <=200bp T - intron_variant BRCA-EU 16 20902565 20902565 single base substitution C T intron_variant BRCA-EU 16 20904509 20904509 single base substitution T A intron_variant BRCA-EU 16 20905654 20905654 single base substitution T G intron_variant BRCA-EU 16 20907187 20907187 single base substitution C G intron_variant BRCA-EU 16 20907920 20907920 single base substitution G A intron_variant BRCA-EU 16 20909319 20909319 single base substitution C G intron_variant BRCA-EU 16 20909631 20909631 single base substitution C G intron_variant BRCA-EU 16 20909699 20909699 single base substitution C T intron_variant BRCA-EU 16 20909805 20909805 single base substitution G A intron_variant BRCA-EU 16 20909870 20909870 single base substitution C G intron_variant BRCA-EU 16 20911382 20911382 single base substitution C G intron_variant BRCA-EU 16 20913552 20913552 single base substitution G T upstream_gene_variant BRCA-EU 16 20915441 20915441 single base substitution G C upstream_gene_variant BRCA-EU 16 20916123 20916123 single base substitution G C upstream_gene_variant BRCA-EU 16 20916492 20916492 single base substitution G C upstream_gene_variant BRCA-FR 16 20862624 20862624 single base substitution C T downstream_gene_variant BRCA-FR 16 20863031 20863031 single base substitution C G downstream_gene_variant BRCA-FR 16 20881973 20881973 single base substitution C G intron_variant BRCA-FR 16 20881973 20881973 single base substitution C G upstream_gene_variant BRCA-FR 16 20882146 20882146 single base substitution C G intron_variant BRCA-FR 16 20882146 20882146 single base substitution C G upstream_gene_variant BRCA-FR 16 20885402 20885402 single base substitution C G intron_variant BRCA-FR 16 20896899 20896899 single base substitution G A intron_variant BRCA-FR 16 20899119 20899119 single base substitution G A intron_variant BRCA-FR 16 20901858 20901858 single base substitution G A intron_variant BRCA-FR 16 20902565 20902565 single base substitution C T intron_variant BRCA-FR 16 20905654 20905654 single base substitution T G intron_variant BRCA-UK 16 20871586 20871586 single base substitution G C missense_variant F179L 537C>G BRCA-UK 16 20873602 20873602 single base substitution A C missense_variant S87A 259T>G BRCA-UK 16 20909319 20909319 single base substitution C G intron_variant BRCA-UK 16 20909631 20909631 single base substitution C G intron_variant BRCA-US 16 20871508 20871508 single base substitution G T synonymous_variant A205A 615C>A BRCA-US 16 20873485 20873485 single base substitution G A stop_gained R126* 376C>T BRCA-US 16 20873624 20873624 single base substitution G A synonymous_variant S79S 237C>T BRCA-US 16 20873717 20873717 single base substitution A C synonymous_variant G48G 144T>G CESC-US 16 20871284 20871284 single base substitution C T missense_variant R280Q 839G>A CESC-US 16 20871455 20871455 single base substitution T C missense_variant Q223R 668A>G CESC-US 16 20873536 20873536 single base substitution C A stop_gained E109* 325G>T CLLE-ES 16 20866977 20866977 single base substitution A C 3_prime_UTR_variant CLLE-ES 16 20866977 20866977 single base substitution A C downstream_gene_variant CLLE-ES 16 20879030 20879030 single base substitution A C intron_variant CLLE-ES 16 20895656 20895656 single base substitution G A intron_variant CLLE-ES 16 20910709 20910709 single base substitution T A intron_variant COAD-US 16 20871510 20871510 single base substitution C T missense_variant A205T 613G>A COAD-US 16 20871525 20871525 single base substitution G T missense_variant L200M 598C>A COAD-US 16 20873699 20873699 single base substitution G A synonymous_variant N54N 162C>T COCA-CN 16 20871223 20871223 single base substitution G A synonymous_variant P300P 900C>T COCA-CN 16 20873490 20873490 single base substitution T G missense_variant E124A 371A>C COCA-CN 16 20873545 20873545 single base substitution T G missense_variant I106L 316A>C COCA-CN 16 20873913 20873913 single base substitution C T 5_prime_UTR_variant EOPC-DE 16 20872787 20872787 single base substitution T C intron_variant EOPC-DE 16 20900430 20900430 single base substitution G A intron_variant EOPC-DE 16 20900436 20900436 single base substitution G A intron_variant ESAD-UK 16 20863855 20863855 single base substitution C T downstream_gene_variant ESAD-UK 16 20864656 20864656 single base substitution G T downstream_gene_variant ESAD-UK 16 20875349 20875349 single base substitution C A intron_variant ESAD-UK 16 20877363 20877363 single base substitution A C intron_variant ESAD-UK 16 20880150 20880150 single base substitution A C intron_variant ESAD-UK 16 20880462 20880462 single base substitution G A intron_variant ESAD-UK 16 20880462 20880462 single base substitution G A upstream_gene_variant ESAD-UK 16 20881785 20881785 single base substitution A C intron_variant ESAD-UK 16 20881785 20881785 single base substitution A C upstream_gene_variant ESAD-UK 16 20886022 20886022 insertion of <=200bp - A intron_variant ESAD-UK 16 20888705 20888705 single base substitution C T intron_variant ESAD-UK 16 20890279 20890279 single base substitution C T intron_variant ESAD-UK 16 20891450 20891450 single base substitution C T intron_variant ESAD-UK 16 20893369 20893369 single base substitution C T intron_variant ESAD-UK 16 20896602 20896602 single base substitution G T intron_variant ESAD-UK 16 20897273 20897273 single base substitution T C intron_variant ESAD-UK 16 20900777 20900777 single base substitution T A intron_variant ESAD-UK 16 20900781 20900781 single base substitution G T intron_variant ESAD-UK 16 20901578 20901578 single base substitution G A intron_variant ESAD-UK 16 20901792 20901792 deletion of <=200bp T - intron_variant ESAD-UK 16 20904303 20904303 single base substitution A G intron_variant ESAD-UK 16 20905690 20905690 single base substitution C T intron_variant ESAD-UK 16 20906624 20906624 single base substitution C T intron_variant ESAD-UK 16 20910333 20910333 single base substitution C A intron_variant ESAD-UK 16 20911765 20911765 single base substitution C G upstream_gene_variant ESAD-UK 16 20912683 20912683 single base substitution G C upstream_gene_variant ESAD-UK 16 20913772 20913772 single base substitution G A upstream_gene_variant ESAD-UK 16 20916315 20916315 single base substitution A T upstream_gene_variant ESCA-CN 16 20871285 20871285 single base substitution G A stop_gained R280* 838C>T KIRC-US 16 20871576 20871576 single base substitution A G missense_variant Y183H 547T>C KIRP-US 16 20871250 20871250 single base substitution G A synonymous_variant L291L 873C>T KIRP-US 16 20871518 20871518 single base substitution C A missense_variant R202L 605G>T LAML-KR 16 20872645 20872645 single base substitution C T intron_variant LICA-CN 16 20871252 20871252 single base substitution G C missense_variant L291V 871C>G LICA-FR 16 20867119 20867119 single base substitution A C 3_prime_UTR_variant LICA-FR 16 20867119 20867119 single base substitution A C downstream_gene_variant LICA-FR 16 20871661 20871661 single base substitution T C missense_variant I154M 462A>G LICA-FR 16 20873947 20873947 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant LICA-FR 16 20880977 20880977 single base substitution T C intron_variant LICA-FR 16 20880977 20880977 single base substitution T C upstream_gene_variant LICA-FR 16 20886476 20886476 single base substitution A G intron_variant LICA-FR 16 20887138 20887138 single base substitution T C intron_variant LICA-FR 16 20916527 20916527 single base substitution A G upstream_gene_variant LINC-JP 16 20866763 20866763 single base substitution G C 3_prime_UTR_variant LINC-JP 16 20866763 20866763 single base substitution G C downstream_gene_variant LINC-JP 16 20868695 20868695 single base substitution C A 3_prime_UTR_variant LINC-JP 16 20868695 20868695 single base substitution C A downstream_gene_variant LINC-JP 16 20869158 20869158 single base substitution C A 3_prime_UTR_variant LINC-JP 16 20869158 20869158 single base substitution C A downstream_gene_variant LINC-JP 16 20876552 20876552 single base substitution A G intron_variant LINC-JP 16 20892552 20892552 single base substitution T C intron_variant LINC-JP 16 20902253 20902253 single base substitution A T intron_variant LIRI-JP 16 20862548 20862548 single base substitution T G downstream_gene_variant LIRI-JP 16 20863333 20863333 single base substitution T G downstream_gene_variant LIRI-JP 16 20865600 20865600 single base substitution T C downstream_gene_variant LIRI-JP 16 20866632 20866632 single base substitution G A 3_prime_UTR_variant LIRI-JP 16 20866632 20866632 single base substitution G A downstream_gene_variant LIRI-JP 16 20867811 20867811 single base substitution T C 3_prime_UTR_variant LIRI-JP 16 20867811 20867811 single base substitution T C downstream_gene_variant LIRI-JP 16 20869255 20869255 single base substitution T C 3_prime_UTR_variant LIRI-JP 16 20869255 20869255 single base substitution T C downstream_gene_variant LIRI-JP 16 20870392 20870392 single base substitution T A 3_prime_UTR_variant LIRI-JP 16 20870753 20870753 single base substitution C A 3_prime_UTR_variant LIRI-JP 16 20871208 20871208 single base substitution C T stop_retained_variant *305* 915G>A LIRI-JP 16 20871270 20871270 single base substitution C T missense_variant G285R 853G>A LIRI-JP 16 20874977 20874977 single base substitution A C intron_variant LIRI-JP 16 20875763 20875763 single base substitution A G intron_variant LIRI-JP 16 20878083 20878083 single base substitution T C intron_variant LIRI-JP 16 20878440 20878440 single base substitution A T intron_variant LIRI-JP 16 20879034 20879035 deletion of <=200bp TC - intron_variant LIRI-JP 16 20880423 20880423 single base substitution G C intron_variant LIRI-JP 16 20880423 20880423 single base substitution G C upstream_gene_variant LIRI-JP 16 20882216 20882216 single base substitution C A intron_variant LIRI-JP 16 20882216 20882216 single base substitution C A upstream_gene_variant LIRI-JP 16 20882914 20882914 single base substitution G A intron_variant LIRI-JP 16 20882914 20882914 single base substitution G A upstream_gene_variant LIRI-JP 16 20883903 20883903 single base substitution A T intron_variant LIRI-JP 16 20883903 20883903 single base substitution A T upstream_gene_variant LIRI-JP 16 20885299 20885299 single base substitution T C intron_variant LIRI-JP 16 20885299 20885299 single base substitution T C upstream_gene_variant LIRI-JP 16 20887570 20887570 single base substitution C G intron_variant LIRI-JP 16 20892061 20892061 single base substitution T C intron_variant LIRI-JP 16 20893228 20893228 single base substitution G C intron_variant LIRI-JP 16 20899006 20899006 single base substitution G A intron_variant LIRI-JP 16 20901650 20901650 single base substitution G A intron_variant LIRI-JP 16 20901719 20901719 single base substitution G A intron_variant LIRI-JP 16 20901924 20901924 single base substitution C A intron_variant LIRI-JP 16 20904244 20904244 single base substitution C T intron_variant LIRI-JP 16 20905290 20905290 single base substitution A G intron_variant LIRI-JP 16 20905658 20905658 single base substitution G A intron_variant LIRI-JP 16 20906065 20906065 single base substitution C T intron_variant LIRI-JP 16 20907010 20907010 single base substitution T C intron_variant LIRI-JP 16 20909909 20909909 single base substitution A C intron_variant LIRI-JP 16 20910112 20910112 single base substitution T G intron_variant LIRI-JP 16 20910243 20910243 single base substitution A G intron_variant LIRI-JP 16 20913398 20913398 single base substitution A G upstream_gene_variant LUSC-KR 16 20870194 20870194 single base substitution T A 3_prime_UTR_variant LUSC-KR 16 20870194 20870194 single base substitution T A downstream_gene_variant LUSC-KR 16 20870764 20870764 single base substitution A G 3_prime_UTR_variant LUSC-KR 16 20873767 20873767 single base substitution T G synonymous_variant R32R 94A>C LUSC-KR 16 20875986 20875986 single base substitution C T intron_variant LUSC-KR 16 20878047 20878047 single base substitution C A intron_variant LUSC-KR 16 20881885 20881885 single base substitution A C intron_variant LUSC-KR 16 20881885 20881885 single base substitution A C upstream_gene_variant LUSC-KR 16 20887526 20887526 single base substitution T G intron_variant LUSC-KR 16 20900898 20900898 single base substitution G A intron_variant LUSC-KR 16 20902077 20902077 single base substitution G C intron_variant LUSC-KR 16 20902517 20902517 single base substitution T A intron_variant LUSC-KR 16 20911292 20911292 single base substitution G A intron_variant LUSC-KR 16 20911816 20911816 single base substitution T G upstream_gene_variant LUSC-US 16 20873630 20873630 single base substitution C T synonymous_variant R77R 231G>A MALY-DE 16 20861871 20861871 single base substitution G A downstream_gene_variant MALY-DE 16 20883628 20883628 single base substitution G A intron_variant MALY-DE 16 20883628 20883628 single base substitution G A upstream_gene_variant MALY-DE 16 20886639 20886639 single base substitution C A intron_variant MALY-DE 16 20892981 20892981 single base substitution T A intron_variant MALY-DE 16 20900100 20900100 single base substitution T A intron_variant MALY-DE 16 20915542 20915542 single base substitution T G upstream_gene_variant MALY-DE 16 20915622 20915622 single base substitution T A upstream_gene_variant MELA-AU 16 20861380 20861380 single base substitution G A downstream_gene_variant MELA-AU 16 20861390 20861390 single base substitution T G downstream_gene_variant MELA-AU 16 20863264 20863264 single base substitution G A downstream_gene_variant MELA-AU 16 20863375 20863375 single base substitution A G downstream_gene_variant MELA-AU 16 20863477 20863477 single base substitution G A downstream_gene_variant MELA-AU 16 20863916 20863916 single base substitution G A downstream_gene_variant MELA-AU 16 20864653 20864653 single base substitution C T downstream_gene_variant MELA-AU 16 20865667 20865667 single base substitution G A downstream_gene_variant MELA-AU 16 20865964 20865964 single base substitution G A downstream_gene_variant MELA-AU 16 20868091 20868091 single base substitution C T 3_prime_UTR_variant MELA-AU 16 20868091 20868091 single base substitution C T downstream_gene_variant MELA-AU 16 20868463 20868465 multiple base substitution (>=2bp and <=200bp) GGT AAA 3_prime_UTR_variant MELA-AU 16 20868463 20868465 multiple base substitution (>=2bp and <=200bp) GGT AAA downstream_gene_variant MELA-AU 16 20868814 20868814 single base substitution G A 3_prime_UTR_variant MELA-AU 16 20868814 20868814 single base substitution G A downstream_gene_variant MELA-AU 16 20869981 20869981 single base substitution T A 3_prime_UTR_variant MELA-AU 16 20869981 20869981 single base substitution T A downstream_gene_variant MELA-AU 16 20870041 20870041 single base substitution G A 3_prime_UTR_variant MELA-AU 16 20870041 20870041 single base substitution G A downstream_gene_variant MELA-AU 16 20871471 20871471 single base substitution G A missense_variant P218S 652C>T MELA-AU 16 20872703 20872703 single base substitution G A intron_variant MELA-AU 16 20873028 20873029 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 20873291 20873291 single base substitution G A intron_variant MELA-AU 16 20873485 20873485 single base substitution G A stop_gained R126* 376C>T MELA-AU 16 20873732 20873732 single base substitution G A synonymous_variant P43P 129C>T MELA-AU 16 20874155 20874155 single base substitution G A intron_variant MELA-AU 16 20874934 20874934 single base substitution G A intron_variant MELA-AU 16 20875227 20875227 single base substitution A G intron_variant MELA-AU 16 20875500 20875500 single base substitution G A intron_variant MELA-AU 16 20875843 20875843 single base substitution G A intron_variant MELA-AU 16 20875867 20875867 single base substitution A T intron_variant MELA-AU 16 20876059 20876059 single base substitution A G intron_variant MELA-AU 16 20876206 20876206 single base substitution G A intron_variant MELA-AU 16 20877236 20877236 single base substitution C T intron_variant MELA-AU 16 20877389 20877389 single base substitution G A intron_variant MELA-AU 16 20877715 20877715 single base substitution G A intron_variant MELA-AU 16 20877725 20877725 single base substitution G A intron_variant MELA-AU 16 20878343 20878343 single base substitution A C intron_variant MELA-AU 16 20878619 20878619 single base substitution A G intron_variant MELA-AU 16 20880021 20880021 single base substitution G A intron_variant MELA-AU 16 20881097 20881097 single base substitution G A intron_variant MELA-AU 16 20881097 20881097 single base substitution G A upstream_gene_variant MELA-AU 16 20881482 20881482 single base substitution G T intron_variant MELA-AU 16 20881482 20881482 single base substitution G T upstream_gene_variant MELA-AU 16 20884222 20884222 single base substitution G A intron_variant MELA-AU 16 20884222 20884222 single base substitution G A upstream_gene_variant MELA-AU 16 20884772 20884772 single base substitution G T intron_variant MELA-AU 16 20884772 20884772 single base substitution G T upstream_gene_variant MELA-AU 16 20884888 20884888 single base substitution G A intron_variant MELA-AU 16 20884888 20884888 single base substitution G A upstream_gene_variant MELA-AU 16 20885326 20885326 single base substitution G A intron_variant MELA-AU 16 20886158 20886158 single base substitution T C intron_variant MELA-AU 16 20886219 20886219 single base substitution G A intron_variant MELA-AU 16 20887171 20887171 single base substitution G A intron_variant MELA-AU 16 20887668 20887668 single base substitution G A intron_variant MELA-AU 16 20887681 20887681 single base substitution A G intron_variant MELA-AU 16 20888276 20888276 single base substitution G A intron_variant MELA-AU 16 20889902 20889902 single base substitution T C intron_variant MELA-AU 16 20891065 20891065 single base substitution G A intron_variant MELA-AU 16 20891904 20891904 single base substitution G A intron_variant MELA-AU 16 20892021 20892021 single base substitution G A intron_variant MELA-AU 16 20892502 20892502 single base substitution A T intron_variant MELA-AU 16 20892621 20892621 single base substitution C T intron_variant MELA-AU 16 20893117 20893117 single base substitution G A intron_variant MELA-AU 16 20893581 20893581 single base substitution T C intron_variant MELA-AU 16 20893778 20893778 single base substitution G A intron_variant MELA-AU 16 20895584 20895584 single base substitution C T intron_variant MELA-AU 16 20897855 20897855 single base substitution T A intron_variant MELA-AU 16 20898517 20898517 single base substitution G A intron_variant MELA-AU 16 20898521 20898521 single base substitution G A intron_variant MELA-AU 16 20899519 20899519 single base substitution G A intron_variant MELA-AU 16 20899844 20899844 single base substitution G A intron_variant MELA-AU 16 20900569 20900569 single base substitution C T intron_variant MELA-AU 16 20901401 20901401 single base substitution A T intron_variant MELA-AU 16 20901665 20901665 single base substitution G A intron_variant MELA-AU 16 20902490 20902490 single base substitution A G intron_variant MELA-AU 16 20902584 20902584 single base substitution G A intron_variant MELA-AU 16 20902614 20902614 single base substitution G A intron_variant MELA-AU 16 20903411 20903411 single base substitution G A intron_variant MELA-AU 16 20905014 20905014 single base substitution G A intron_variant MELA-AU 16 20905041 20905041 single base substitution A T intron_variant MELA-AU 16 20905410 20905410 single base substitution G A intron_variant MELA-AU 16 20906158 20906158 single base substitution G A intron_variant MELA-AU 16 20908609 20908609 single base substitution C T intron_variant MELA-AU 16 20909494 20909494 single base substitution G A intron_variant MELA-AU 16 20909516 20909516 single base substitution G A intron_variant MELA-AU 16 20909833 20909833 single base substitution A C intron_variant MELA-AU 16 20910949 20910949 single base substitution G A intron_variant MELA-AU 16 20911699 20911699 single base substitution C T 5_prime_UTR_variant MELA-AU 16 20911700 20911700 single base substitution C T 5_prime_UTR_variant MELA-AU 16 20911718 20911718 single base substitution C T upstream_gene_variant MELA-AU 16 20912124 20912124 single base substitution G A upstream_gene_variant MELA-AU 16 20912975 20912975 single base substitution C T upstream_gene_variant MELA-AU 16 20913426 20913427 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 20914739 20914739 single base substitution C T upstream_gene_variant MELA-AU 16 20915224 20915224 single base substitution C T upstream_gene_variant ORCA-IN 16 20861310 20861310 single base substitution C T downstream_gene_variant ORCA-IN 16 20872808 20872808 single base substitution C G intron_variant ORCA-IN 16 20886575 20886575 single base substitution C A intron_variant OV-AU 16 20866802 20866802 single base substitution G A 3_prime_UTR_variant OV-AU 16 20866802 20866802 single base substitution G A downstream_gene_variant OV-AU 16 20880235 20880235 single base substitution C T 5_prime_UTR_variant OV-AU 16 20880235 20880235 single base substitution C T intron_variant OV-AU 16 20884552 20884552 single base substitution A C intron_variant OV-AU 16 20884552 20884552 single base substitution A C upstream_gene_variant OV-AU 16 20895003 20895003 single base substitution G C intron_variant OV-AU 16 20914383 20914383 single base substitution A G upstream_gene_variant PACA-AU 16 20863771 20863771 single base substitution G A downstream_gene_variant PACA-AU 16 20874465 20874465 deletion of <=200bp T - intron_variant PACA-AU 16 20874724 20874724 single base substitution G A intron_variant PACA-AU 16 20878862 20878862 deletion of <=200bp T - intron_variant PACA-AU 16 20879600 20879600 single base substitution C A intron_variant PACA-AU 16 20888094 20888094 insertion of <=200bp - A intron_variant PACA-AU 16 20888339 20888339 single base substitution G A intron_variant PACA-AU 16 20904085 20904085 deletion of <=200bp A - intron_variant PACA-AU 16 20904951 20904951 single base substitution G A intron_variant PACA-AU 16 20911282 20911282 single base substitution G A intron_variant PACA-AU 16 20912277 20912277 single base substitution C G upstream_gene_variant PACA-AU 16 20916013 20916013 insertion of <=200bp - TT upstream_gene_variant PACA-CA 16 20862290 20862290 single base substitution A G downstream_gene_variant PACA-CA 16 20863962 20863962 single base substitution A G downstream_gene_variant PACA-CA 16 20867176 20867176 single base substitution C T 3_prime_UTR_variant PACA-CA 16 20867176 20867176 single base substitution C T downstream_gene_variant PACA-CA 16 20880291 20880291 single base substitution C A 5_prime_UTR_variant PACA-CA 16 20880291 20880291 single base substitution C A intron_variant PACA-CA 16 20889122 20889122 insertion of <=200bp - T intron_variant PACA-CA 16 20890279 20890279 single base substitution C A intron_variant PACA-CA 16 20891390 20891390 single base substitution G A intron_variant PACA-CA 16 20893527 20893527 single base substitution G C intron_variant PACA-CA 16 20893761 20893762 deletion of <=200bp TT - intron_variant PACA-CA 16 20895209 20895209 single base substitution G C intron_variant PACA-CA 16 20896914 20896914 single base substitution G A intron_variant PACA-CA 16 20898561 20898561 deletion of <=200bp T - intron_variant PACA-CA 16 20902253 20902253 single base substitution A T intron_variant PACA-CA 16 20902696 20902696 single base substitution C T intron_variant PACA-CA 16 20902817 20902817 single base substitution C T intron_variant PACA-CA 16 20906503 20906503 single base substitution A G intron_variant PACA-CA 16 20909348 20909348 single base substitution C T intron_variant PACA-CA 16 20909446 20909446 single base substitution G T intron_variant PAEN-IT 16 20863832 20863832 single base substitution C T downstream_gene_variant PAEN-IT 16 20907073 20907073 single base substitution G A intron_variant PBCA-DE 16 20865191 20865191 single base substitution G T downstream_gene_variant PBCA-DE 16 20886407 20886407 single base substitution C T intron_variant PBCA-DE 16 20888272 20888272 single base substitution G A intron_variant PBCA-DE 16 20894683 20894685 deletion of <=200bp CAT - intron_variant PBCA-DE 16 20894844 20894844 single base substitution A T intron_variant PBCA-DE 16 20894845 20894845 single base substitution A T intron_variant PBCA-DE 16 20902322 20902322 insertion of <=200bp - T intron_variant PBCA-DE 16 20906487 20906487 single base substitution G A intron_variant PRAD-UK 16 20870292 20870292 single base substitution C A 3_prime_UTR_variant PRAD-UK 16 20870292 20870292 single base substitution C A downstream_gene_variant PRAD-UK 16 20897422 20897422 single base substitution T C intron_variant RECA-EU 16 20863362 20863362 single base substitution T C downstream_gene_variant RECA-EU 16 20867259 20867259 single base substitution C G 3_prime_UTR_variant RECA-EU 16 20867259 20867259 single base substitution C G downstream_gene_variant RECA-EU 16 20878758 20878758 single base substitution A T intron_variant RECA-EU 16 20880389 20880389 single base substitution G C intron_variant RECA-EU 16 20880389 20880389 single base substitution G C upstream_gene_variant RECA-EU 16 20892380 20892380 single base substitution A T intron_variant RECA-EU 16 20898061 20898061 single base substitution G A intron_variant RECA-EU 16 20899117 20899117 single base substitution A C intron_variant RECA-EU 16 20900211 20900211 single base substitution C G intron_variant RECA-EU 16 20904652 20904652 single base substitution G A intron_variant RECA-EU 16 20909443 20909443 single base substitution C A intron_variant SKCA-BR 16 20870768 20870768 single base substitution A G 3_prime_UTR_variant SKCA-BR 16 20877110 20877110 single base substitution G A intron_variant SKCA-BR 16 20878240 20878240 single base substitution C T intron_variant SKCA-BR 16 20881762 20881762 single base substitution T C intron_variant SKCA-BR 16 20881762 20881762 single base substitution T C upstream_gene_variant SKCA-BR 16 20882348 20882348 single base substitution T G intron_variant SKCA-BR 16 20882348 20882348 single base substitution T G upstream_gene_variant SKCA-BR 16 20882839 20882839 single base substitution G A intron_variant SKCA-BR 16 20882839 20882839 single base substitution G A upstream_gene_variant SKCA-BR 16 20890748 20890748 single base substitution C T intron_variant SKCA-BR 16 20893275 20893275 single base substitution G C intron_variant SKCA-BR 16 20896209 20896209 single base substitution C T intron_variant SKCA-BR 16 20896210 20896210 single base substitution C T intron_variant SKCA-BR 16 20900546 20900546 insertion of <=200bp - CA intron_variant SKCA-BR 16 20903010 20903010 single base substitution C T intron_variant SKCA-BR 16 20903054 20903054 single base substitution A C intron_variant SKCA-BR 16 20903533 20903533 single base substitution A G intron_variant SKCA-BR 16 20904170 20904170 single base substitution C G intron_variant SKCA-BR 16 20904544 20904544 single base substitution A T intron_variant SKCA-BR 16 20904839 20904839 single base substitution A G intron_variant SKCA-BR 16 20904860 20904860 single base substitution A G intron_variant SKCA-BR 16 20905410 20905410 single base substitution G A intron_variant SKCA-BR 16 20906041 20906041 single base substitution G A intron_variant SKCA-BR 16 20911809 20911809 single base substitution T G upstream_gene_variant SKCA-BR 16 20913572 20913572 single base substitution C T upstream_gene_variant SKCA-BR 16 20914242 20914242 single base substitution C T upstream_gene_variant SKCA-BR 16 20914248 20914248 single base substitution T C upstream_gene_variant SKCA-BR 16 20914249 20914249 single base substitution C T upstream_gene_variant SKCA-BR 16 20916013 20916013 insertion of <=200bp - TTTTGTGTGTGTG upstream_gene_variant SKCM-US 16 20871384 20871384 single base substitution G A missense_variant L247F 739C>T SKCM-US 16 20871407 20871407 single base substitution G A missense_variant S239F 716C>T SKCM-US 16 20871502 20871502 single base substitution G A synonymous_variant A207A 621C>T SKCM-US 16 20873521 20873521 single base substitution A C missense_variant F114V 340T>G SKCM-US 16 20873639 20873639 single base substitution A C missense_variant D74E 222T>G SKCM-US 16 20873685 20873685 single base substitution G A missense_variant A59V 176C>T STAD-US 16 20871266 20871266 insertion of <=200bp - C frameshift_variant E286E? STAD-US 16 20871267 20871267 insertion of <=200bp - C frameshift_variant E286G? STAD-US 16 20873428 20873428 single base substitution A C splice_donor_variant THCA-SA 16 20873480 20873480 single base substitution C A synonymous_variant V127V 381G>T UCEC-US 16 20871221 20871221 single base substitution T G missense_variant E301A 902A>C UCEC-US 16 20873479 20873479 single base substitution G T missense_variant L128M 382C>A UCEC-US 16 20873704 20873704 single base substitution C T missense_variant V53I 157G>A UCEC-US 16 20873776 20873776 single base substitution G A missense_variant H29Y 85C>T UCEC-US 16 20873795 20873795 single base substitution A G synonymous_variant R22R 66T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CLL158 COSM1290478 c.241T>A p.S81T Substitution - Missense 16:20862298-20862298 - PD6415a COSM5794529 c.839G>C p.R280P Substitution - Missense 16:20859962-20859962 - 416 COSM4431465 c.39G>A p.S13S Substitution - coding silent 16:20862500-20862500 - CHEWS027 COSM3817446 c.237C>T p.S79S Substitution - coding silent 16:20862302-20862302 - TCGA-BR-4366-01 COSM4059021 c.431+2T>G p.? Unknown 16:20862106-20862106 - PD4203a COSM160362 c.537C>G p.F179L Substitution - Missense 16:20860264-20860264 - TCGA-EE-A181-06 COSM2130316 c.621C>T p.A207A Substitution - coding silent 16:20860180-20860180 - YUTUCO COSM3507078 c.340T>G p.F114V Substitution - Missense 16:20862199-20862199 - TCGA-FU-A3HZ-01 COSM4839264 c.839G>A p.R280Q Substitution - Missense 16:20859962-20859962 - H1155 COSM968180 c.157G>A p.V53I Substitution - Missense 16:20862382-20862382 - TCGA-AP-A051-01 COSM968179 c.382C>A p.L128M Substitution - Missense 16:20862157-20862157 - TCGA-AZ-6601-01 COSM1376458 c.162C>T p.N54N Substitution - coding silent 16:20862377-20862377 - TCGA-CM-6171-01 COSM1376455 c.598C>A p.L200M Substitution - Missense 16:20860203-20860203 - PD23554a COSM5800235 c.504C>G p.S168R Substitution - Missense 16:20860297-20860297 - Pat_05_A COSM5850382 c.604C>T p.R202W Substitution - Missense 16:20860197-20860197 - TCGA-G9-6351-01 COSM471440 c.216G>T p.S72S Substitution - coding silent 16:20862323-20862323 - UMC11 COSM2130311 c.677A>G p.N226S Substitution - Missense 16:20860124-20860124 - TCGA-B0-4827-01 COSM471439 c.547T>C p.Y183H Substitution - Missense 16:20860254-20860254 - TCGA-FW-A3R5-06 COSM3888104 c.716C>T p.S239F Substitution - Missense 16:20860085-20860085 - TCGA-13-0886-01 COSM70411 c.562C>A p.Q188K Substitution - Missense 16:20860239-20860239 - YUAKER COSM1708876 c.376C>T p.R126* Substitution - Nonsense 16:20862163-20862163 - TCGA-D1-A17H-01 COSM968181 c.85C>T p.H29Y Substitution - Missense 16:20862454-20862454 - Pat_41_B COSM5850383 c.218G>A p.G73E Substitution - Missense 16:20862321-20862321 - PTC-7C COSM3999769 c.94A>C p.R32R Substitution - coding silent 16:20862445-20862445 - TCGA-A6-6649-01 COSM1376454 c.613G>A p.A205T Substitution - Missense 16:20860188-20860188 - 35M COSM5580790 c.209C>G p.T70R Substitution - Missense 16:20862330-20862330 - 2492729 COSM5729531 c.420C>T p.C140C Substitution - coding silent 16:20862119-20862119 - YURAY COSM1708876 c.376C>T p.R126* Substitution - Nonsense 16:20862163-20862163 - TCGA-OL-A5RU-01 COSM3817446 c.237C>T p.S79S Substitution - coding silent 16:20862302-20862302 - TCGA-B5-A11E-01 COSM968178 c.902A>C p.E301A Substitution - Missense 16:20859899-20859899 - TCGA-18-3409-01 COSM702427 c.231G>A p.R77R Substitution - coding silent 16:20862308-20862308 - ME037T COSM227881 c.128_129CC>TT p.P43>? Complex 16:20862410-20862411 - BK0037 COSM4187114 c.575A>G p.D192G Substitution - Missense 16:20860226-20860226 - I2L-P19Tb-Tumor-Biopsy COSM5363446 c.247G>A p.A83T Substitution - Missense 16:20862292-20862292 - CSCC-56-T COSM4512380 c.900C>T p.P300P Substitution - coding silent 16:20859901-20859901 - TCGA-BG-A0M4-01 COSM968182 c.66T>C p.R22R Substitution - coding silent 16:20862473-20862473 - PD6730b COSM5791768 c.137A>C p.K46T Substitution - Missense 16:20862402-20862402 - TCGA-EE-A2GM-06 COSM3507077 c.739C>T p.L247F Substitution - Missense 16:20860062-20860062 - PTC-14C COSM4128783 c.730A>C p.N244H Substitution - Missense 16:20860071-20860071 - TCGA-A8-A09Z-01 COSM3817445 c.615C>A p.A205A Substitution - coding silent 16:20860186-20860186 - TCGA-FW-A3R5-06 COSM3888106 c.176C>T p.A59V Substitution - Missense 16:20862363-20862363 - MOLT-4 COSM1678899 c.493C>T p.R165W Substitution - Missense 16:20860308-20860308 - RK210_C01 COSM3741820 c.853G>A p.G285R Substitution - Missense 16:20859948-20859948 - TCGA-AP-A051-01 COSM968180 c.157G>A p.V53I Substitution - Missense 16:20862382-20862382 - CHEWS032 COSM4578769 c.250G>A p.E84K Substitution - Missense 16:20862289-20862289 - YUGATOR COSM1708876 c.376C>T p.R126* Substitution - Nonsense 16:20862163-20862163 - sysucc-1237T COSM4512380 c.900C>T p.P300P Substitution - coding silent 16:20859901-20859901 - CHC1041T COSM3667808 c.462A>G p.I154M Substitution - Missense 16:20860339-20860339 - MO_1012 COSM5554078 c.736T>G p.F246V Substitution - Missense 16:20860065-20860065 - TCGA-EB-A44N-01 COSM3888105 c.222T>G p.D74E Substitution - Missense 16:20862317-20862317 - ESCC-246T COSM3936962 c.838C>T p.R280* Substitution - Nonsense 16:20859963-20859963 - CHC1041T COSM3667808 c.462A>G p.I154M Substitution - Missense 16:20860339-20860339 - T3182 COSM4676635 c.494G>A p.R165Q Substitution - Missense 16:20860307-20860307 - I2L-P19Tb-Tumor-Organoid COSM5363446 c.247G>A p.A83T Substitution - Missense 16:20862292-20862292 - PTC_330 COSM5959989 c.381G>T p.V127V Substitution - coding silent 16:20862158-20862158 - TCGA-EK-A2RA-01 COSM4848399 c.325G>T p.E109* Substitution - Nonsense 16:20862214-20862214 - TCGA-B0-5098-01 COSM1493592 c.912T>C p.T304T Substitution - coding silent 16:20859889-20859889 - TCGA-A8-A0A6-01 COSM3817447 c.144T>G p.G48G Substitution - coding silent 16:20862395-20862395 - I2L-P7-Tumor-Organoid COSM5363648 c.138G>A p.K46K Substitution - coding silent 16:20862401-20862401 - TCGA-G7-6790-01 COSM3988316 c.605G>T p.R202L Substitution - Missense 16:20860196-20860196 - SNUH_G10_S1 COSM3999769 c.94A>C p.R32R Substitution - coding silent 16:20862445-20862445 - RK124_C01 COSM3701058 c.915G>A p.*305* Substitution - coding silent 16:20859886-20859886 - PD4100a COSM160361 c.259T>G p.S87A Substitution - Missense 16:20862280-20862280 - TCGA-F9-A4JJ-01 COSM3988315 c.873C>T p.L291L Substitution - coding silent 16:20859928-20859928 - TCGA-04-1356-01 COSM79724 c.348T>C p.N116N Substitution - coding silent 16:20862191-20862191 - 587342 COSM1203177 c.110G>A p.R37H Substitution - Missense 16:20862429-20862429 - TCGA-DA-A1I4-06 COSM3507078 c.340T>G p.F114V Substitution - Missense 16:20862199-20862199 - PD6722a COSM5778884 c.878C>G p.S293* Substitution - Nonsense 16:20859923-20859923 - TCGA-AN-A046-01 COSM1708876 c.376C>T p.R126* Substitution - Nonsense 16:20862163-20862163 - sysucc-834T COSM5485782 c.371A>C p.E124A Substitution - Missense 16:20862168-20862168 - ICC014T COSM5823618 c.871C>G p.L291V Substitution - Missense 16:20859930-20859930 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.100938;Hs.101007 16p12.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F114V c.340T>G 16 20873521 CM A C Missense p.F227V c.679T>G 16 20871444 COREAD A C Missense p.S87A c.259T>G 16 20873602 BRCA A C SpliceDonorSNV . c.431+2T>G 16 20873428 STAD A G IntronicSNV . c.1-31379T>C 16 20905239 PIA A G Missense p.Y183H c.547T>C 16 20871576 RCCC A G Synonymous p.N116N c.348T>C 16 20873513 OV A G Synonymous p.R22R c.66T>C 16 20873795 UCEC A T Missense p.S81T c.241T>A 16 20873620 CLL C A 3-UTRSNV . c.912+458G>T 16 20870753 HC - C Frameshift p.E286Gfs*11 c.856dupG 16 20871267 LUAD C G Missense p.D100H c.298G>C 16 20873563 LUAD C T Missense p.G2S c.4G>A 16 20873857 CM G A Missense p.A34V c.101C>T 16 20873760 LUAD G A Missense p.H29Y c.85C>T 16 20873776 UCEC G A Missense p.L247F c.739C>T 16 20871384 CM G A Missense p.R113C c.337C>T 16 20873524 COREAD G A Missense p.R22C c.64C>T 16 20873797 CM G A Synonymous p.A207A c.621C>T 16 20871502 CM G A Synonymous p.F166F c.498C>T 16 20871625 HNSC G C Missense p.F179L c.537C>G 16 20871586 BRCA G C Synonymous p.L269L c.807C>G 16 20871316 HNSC GG AA Missense p.P218F c.652_653delinsTT 16 20871470 CM GG AA Missense p.P43L c.128_129delinsTT 16 20873732 CM GG TT Missense p.P122Q c.365_366delinsAA 16 20873495 HNSC G T Missense p.Q188K c.562C>A 16 20871561 OV T A Missense p.T242S c.724A>T 16 20871399 LUAD