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 23570965 23570965 + Missense_Mutation SNP G G A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chr16:23570965G>A c.532G>A c.(532-534)Gag>Aag p.E178K BLCA 16 23581875 23581875 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr16:23581875C>G c.894C>G c.(892-894)atC>atG p.I298M BRCA 16 23573549 23573549 + Missense_Mutation SNP A A G TCGA-A8-A09K-01A-11W-A019-09 TCGA-A8-A09K-10A-01W-A021-09 g.chr16:23573549A>G c.587A>G c.(586-588)aAa>aGa p.K196R CESC 16 23570965 23570965 + Nonsense_Mutation SNP G G T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 g.chr16:23570965G>T c.532G>T c.(532-534)Gag>Tag p.E178* CESC 16 23573950 23573950 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 g.chr16:23573950G>A c.635G>A c.(634-636)cGc>cAc p.R212H CHOL 16 23578342 23578342 + Missense_Mutation SNP A A C TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr16:23578342A>C c.771A>C c.(769-771)aaA>aaC p.K257N COAD 16 23569546 23569546 + Missense_Mutation SNP T T C TCGA-DM-A1D7-01A-11D-A152-10 TCGA-DM-A1D7-10A-01D-A152-10 g.chr16:23569546T>C c.301T>C c.(301-303)Ttc>Ctc p.F101L COAD 16 23574051 23574051 + Splice_Site SNP G G T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr16:23574051G>T c.736G>T c.(736-738)Gag>Tag p.E246* COAD 16 23581803 23581803 + Silent SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr16:23581803G>A c.822G>A c.(820-822)gcG>gcA p.A274A COAD 16 23581820 23581820 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr16:23581820C>T c.839C>T c.(838-840)aCg>aTg p.T280M COAD 16 23581879 23581879 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr16:23581879G>T c.898G>T c.(898-900)Gac>Tac p.D300Y COADREAD 16 23569546 23569546 + Missense_Mutation SNP T T C TCGA-DM-A1D7-01A-11D-A152-10 TCGA-DM-A1D7-10A-01D-A152-10 g.chr16:23569546T>C c.301T>C c.(301-303)Ttc>Ctc p.F101L COADREAD 16 23574051 23574051 + Splice_Site SNP G G T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr16:23574051G>T c.736G>T c.(736-738)Gag>Tag p.E246* COADREAD 16 23581803 23581803 + Silent SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr16:23581803G>A c.822G>A c.(820-822)gcG>gcA p.A274A COADREAD 16 23581820 23581820 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr16:23581820C>T c.839C>T c.(838-840)aCg>aTg p.T280M COADREAD 16 23581879 23581879 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr16:23581879G>T c.898G>T c.(898-900)Gac>Tac p.D300Y GBM 16 23570883 23570883 + Silent SNP C C T TCGA-19-2619-01A-01D-1495-08 TCGA-19-2619-10A-01D-1495-08 g.chr16:23570883C>T c.450C>T c.(448-450)atC>atT p.I150I GBMLGG 16 23569512 23569512 + Missense_Mutation SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 g.chr16:23569512G>C c.267G>C c.(265-267)aaG>aaC p.K89N GBMLGG 16 23570883 23570883 + Silent SNP C C T TCGA-19-2619-01A-01D-1495-08 TCGA-19-2619-10A-01D-1495-08 g.chr16:23570883C>T c.450C>T c.(448-450)atC>atT p.I150I GBMLGG 16 23570943 23570943 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:23570943G>A c.510G>A c.(508-510)gcG>gcA p.A170A HNSC 16 23569515 23569515 + Silent SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr16:23569515C>T c.270C>T c.(268-270)atC>atT p.I90I HNSC 16 23570829 23570829 + Silent SNP C C T TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 g.chr16:23570829C>T c.396C>T c.(394-396)ctC>ctT p.L132L HNSC 16 23570850 23570850 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 g.chr16:23570850G>A c.417G>A c.(415-417)ttG>ttA p.L139L HNSC 16 23574002 23574002 + Silent SNP G G A TCGA-UF-A7J9-01A-12D-A34J-08 TCGA-UF-A7J9-10A-01D-A34M-08 g.chr16:23574002G>A c.687G>A c.(685-687)gtG>gtA p.V229V LGG 16 23569512 23569512 + Missense_Mutation SNP G G C TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 g.chr16:23569512G>C c.267G>C c.(265-267)aaG>aaC p.K89N LGG 16 23570943 23570943 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:23570943G>A c.510G>A c.(508-510)gcG>gcA p.A170A LIHC 16 23578364 23578364 + Nonsense_Mutation SNP G G T TCGA-DD-AAE3-01A-11D-A40R-10 TCGA-DD-AAE3-10A-01D-A40U-10 g.chr16:23578364G>T c.793G>T c.(793-795)Gaa>Taa p.E265* LUAD 16 23569456 23569456 + Missense_Mutation SNP G G A TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 g.chr16:23569456G>A c.211G>A c.(211-213)Gtc>Atc p.V71I LUAD 16 23570949 23570949 + Missense_Mutation SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr16:23570949G>T c.516G>T c.(514-516)caG>caT p.Q172H LUAD 16 23573999 23573999 + Missense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 g.chr16:23573999A>T c.684A>T c.(682-684)aaA>aaT p.K228N LUAD 16 23581814 23581814 + Missense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 g.chr16:23581814G>T c.833G>T c.(832-834)gGc>gTc p.G278V PRAD 16 23578315 23578315 + Silent SNP T T C TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 g.chr16:23578315T>C c.744T>C c.(742-744)acT>acC p.T248T SKCM 16 23569076 23569076 + Frame_Shift_Del DEL G G - TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr16:23569076delG c.13delG c.(13-15)gggfs p.G5fs SKCM 16 23578329 23578330 + Frame_Shift_Ins INS - - G TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr16:23578329_23578330insG c.758_759insG c.(757-762)atgggcfs p.MG253fs SKCM 16 23581893 23581893 + Silent SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr16:23581893G>A c.912G>A c.(910-912)ggG>ggA p.G304G

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 16 23581875 23581875 single base substitution C G exon_variant BLCA-US 16 23581875 23581875 single base substitution C G missense_variant I289M 867C>G BLCA-US 16 23581875 23581875 single base substitution C G missense_variant I298M 894C>G BLCA-US 16 23581875 23581875 single base substitution C G missense_variant I522M 1566C>G BRCA-EU 16 23566640 23566640 single base substitution C G upstream_gene_variant BRCA-EU 16 23568380 23568380 single base substitution C T upstream_gene_variant BRCA-EU 16 23568671 23568671 single base substitution T C missense_variant W94R 280T>C BRCA-EU 16 23568671 23568671 single base substitution T C upstream_gene_variant BRCA-EU 16 23569257 23569257 deletion of <=200bp T - exon_variant BRCA-EU 16 23569257 23569257 deletion of <=200bp T - intron_variant BRCA-EU 16 23569257 23569257 deletion of <=200bp T - upstream_gene_variant BRCA-EU 16 23571178 23571178 single base substitution C G downstream_gene_variant BRCA-EU 16 23571178 23571178 single base substitution C G exon_variant BRCA-EU 16 23571178 23571178 single base substitution C G intron_variant BRCA-EU 16 23571178 23571178 single base substitution C G upstream_gene_variant BRCA-EU 16 23571219 23571219 single base substitution G C downstream_gene_variant BRCA-EU 16 23571219 23571219 single base substitution G C intron_variant BRCA-EU 16 23571219 23571219 single base substitution G C upstream_gene_variant BRCA-EU 16 23572916 23572916 single base substitution C G downstream_gene_variant BRCA-EU 16 23572916 23572916 single base substitution C G intron_variant BRCA-EU 16 23572916 23572916 single base substitution C G upstream_gene_variant BRCA-EU 16 23572994 23572994 single base substitution C T downstream_gene_variant BRCA-EU 16 23572994 23572994 single base substitution C T exon_variant BRCA-EU 16 23572994 23572994 single base substitution C T intron_variant BRCA-EU 16 23572994 23572994 single base substitution C T upstream_gene_variant BRCA-EU 16 23574231 23574231 single base substitution C T downstream_gene_variant BRCA-EU 16 23574231 23574231 single base substitution C T intron_variant BRCA-EU 16 23574231 23574231 single base substitution C T upstream_gene_variant BRCA-EU 16 23574853 23574853 single base substitution C A downstream_gene_variant BRCA-EU 16 23574853 23574853 single base substitution C A intron_variant BRCA-EU 16 23574853 23574853 single base substitution C A upstream_gene_variant BRCA-EU 16 23575702 23575702 single base substitution C G downstream_gene_variant BRCA-EU 16 23575702 23575702 single base substitution C G intron_variant BRCA-EU 16 23575702 23575702 single base substitution C G upstream_gene_variant BRCA-EU 16 23576210 23576210 single base substitution T C downstream_gene_variant BRCA-EU 16 23576210 23576210 single base substitution T C intron_variant BRCA-EU 16 23576210 23576210 single base substitution T C upstream_gene_variant BRCA-EU 16 23576310 23576310 single base substitution C A downstream_gene_variant BRCA-EU 16 23576310 23576310 single base substitution C A exon_variant BRCA-EU 16 23576310 23576310 single base substitution C A intron_variant BRCA-EU 16 23577832 23577832 single base substitution C G downstream_gene_variant BRCA-EU 16 23577832 23577832 single base substitution C G exon_variant BRCA-EU 16 23577832 23577832 single base substitution C G intron_variant BRCA-EU 16 23579677 23579677 single base substitution C T downstream_gene_variant BRCA-EU 16 23579677 23579677 single base substitution C T intron_variant BRCA-EU 16 23580481 23580481 single base substitution C T intron_variant BRCA-EU 16 23581145 23581145 single base substitution C T intron_variant BRCA-EU 16 23582649 23582649 single base substitution G A 3_prime_UTR_variant BRCA-EU 16 23582649 23582649 single base substitution G A downstream_gene_variant BRCA-EU 16 23582912 23582912 single base substitution C G 3_prime_UTR_variant BRCA-EU 16 23582912 23582912 single base substitution C G downstream_gene_variant BRCA-EU 16 23585686 23585686 single base substitution C T 3_prime_UTR_variant BRCA-EU 16 23585686 23585686 single base substitution C T downstream_gene_variant BRCA-EU 16 23586969 23586969 single base substitution C T downstream_gene_variant BRCA-EU 16 23587238 23587238 single base substitution C G downstream_gene_variant BRCA-EU 16 23587866 23587866 single base substitution A C downstream_gene_variant BRCA-EU 16 23588499 23588499 deletion of <=200bp T - downstream_gene_variant BRCA-EU 16 23589731 23589731 insertion of <=200bp - T downstream_gene_variant BRCA-EU 16 23589993 23589993 deletion of <=200bp A - downstream_gene_variant BRCA-FR 16 23564749 23564749 single base substitution A C upstream_gene_variant BRCA-FR 16 23576456 23576456 single base substitution C T downstream_gene_variant BRCA-FR 16 23576456 23576456 single base substitution C T exon_variant BRCA-FR 16 23576456 23576456 single base substitution C T intron_variant BRCA-FR 16 23579677 23579677 single base substitution C T downstream_gene_variant BRCA-FR 16 23579677 23579677 single base substitution C T intron_variant BRCA-UK 16 23588740 23588740 single base substitution C T downstream_gene_variant BRCA-US 16 23568432 23568432 single base substitution C G missense_variant S14C 41C>G BRCA-US 16 23568432 23568432 single base substitution C G upstream_gene_variant BRCA-US 16 23573549 23573549 single base substitution A G downstream_gene_variant BRCA-US 16 23573549 23573549 single base substitution A G exon_variant BRCA-US 16 23573549 23573549 single base substitution A G missense_variant K187R 560A>G BRCA-US 16 23573549 23573549 single base substitution A G missense_variant K196R 587A>G BRCA-US 16 23573549 23573549 single base substitution A G missense_variant K420R 1259A>G BRCA-US 16 23573549 23573549 single base substitution A G upstream_gene_variant BTCA-JP 16 23563548 23563548 single base substitution G A upstream_gene_variant BTCA-JP 16 23568712 23568712 single base substitution G T 5_prime_UTR_variant BTCA-JP 16 23568712 23568712 single base substitution G T synonymous_variant G107G 321G>T BTCA-JP 16 23568712 23568712 single base substitution G T upstream_gene_variant BTCA-JP 16 23570985 23570985 single base substitution C T downstream_gene_variant BTCA-JP 16 23570985 23570985 single base substitution C T exon_variant BTCA-JP 16 23570985 23570985 single base substitution C T synonymous_variant L175L 525C>T BTCA-JP 16 23570985 23570985 single base substitution C T synonymous_variant L184L 552C>T BTCA-JP 16 23570985 23570985 single base substitution C T synonymous_variant L408L 1224C>T BTCA-JP 16 23570985 23570985 single base substitution C T upstream_gene_variant CESC-US 16 23568536 23568536 single base substitution G A missense_variant G49R 145G>A CESC-US 16 23568536 23568536 single base substitution G A upstream_gene_variant CESC-US 16 23568552 23568552 single base substitution C G missense_variant S54W 161C>G CESC-US 16 23568552 23568552 single base substitution C G upstream_gene_variant CESC-US 16 23568823 23568823 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant CESC-US 16 23568823 23568823 single base substitution C G synonymous_variant L144L 432C>G CESC-US 16 23568823 23568823 single base substitution C G upstream_gene_variant CESC-US 16 23570965 23570965 single base substitution G T downstream_gene_variant CESC-US 16 23570965 23570965 single base substitution G T exon_variant CESC-US 16 23570965 23570965 single base substitution G T stop_gained E169* 505G>T CESC-US 16 23570965 23570965 single base substitution G T stop_gained E178* 532G>T CESC-US 16 23570965 23570965 single base substitution G T stop_gained E402* 1204G>T CESC-US 16 23570965 23570965 single base substitution G T upstream_gene_variant CESC-US 16 23573950 23573950 single base substitution G A downstream_gene_variant CESC-US 16 23573950 23573950 single base substitution G A exon_variant CESC-US 16 23573950 23573950 single base substitution G A missense_variant R203H 608G>A CESC-US 16 23573950 23573950 single base substitution G A missense_variant R212H 635G>A CESC-US 16 23573950 23573950 single base substitution G A missense_variant R436H 1307G>A CESC-US 16 23573950 23573950 single base substitution G A upstream_gene_variant CLLE-ES 16 23569105 23569105 single base substitution T G exon_variant CLLE-ES 16 23569105 23569105 single base substitution T G intron_variant CLLE-ES 16 23569105 23569105 single base substitution T G upstream_gene_variant CLLE-ES 16 23574229 23574229 single base substitution C T downstream_gene_variant CLLE-ES 16 23574229 23574229 single base substitution C T intron_variant CLLE-ES 16 23574229 23574229 single base substitution C T upstream_gene_variant CLLE-ES 16 23575214 23575214 single base substitution C T downstream_gene_variant CLLE-ES 16 23575214 23575214 single base substitution C T intron_variant CLLE-ES 16 23575214 23575214 single base substitution C T upstream_gene_variant COAD-US 16 23569546 23569546 single base substitution T C exon_variant COAD-US 16 23569546 23569546 single base substitution T C missense_variant F101L 301T>C COAD-US 16 23569546 23569546 single base substitution T C missense_variant F325L 973T>C COAD-US 16 23569546 23569546 single base substitution T C missense_variant F92L 274T>C COAD-US 16 23569546 23569546 single base substitution T C upstream_gene_variant COAD-US 16 23574051 23574051 single base substitution G T downstream_gene_variant COAD-US 16 23574051 23574051 single base substitution G T splice_region_variant COAD-US 16 23574051 23574051 single base substitution G T stop_gained E237* 709G>T COAD-US 16 23574051 23574051 single base substitution G T stop_gained E246* 736G>T COAD-US 16 23574051 23574051 single base substitution G T stop_gained E470* 1408G>T COAD-US 16 23574051 23574051 single base substitution G T upstream_gene_variant COAD-US 16 23581803 23581803 single base substitution G A splice_region_variant COAD-US 16 23581820 23581820 single base substitution C T exon_variant COAD-US 16 23581820 23581820 single base substitution C T missense_variant T271M 812C>T COAD-US 16 23581820 23581820 single base substitution C T missense_variant T280M 839C>T COAD-US 16 23581820 23581820 single base substitution C T missense_variant T504M 1511C>T COCA-CN 16 23563473 23563473 single base substitution C T upstream_gene_variant COCA-CN 16 23568392 23568392 single base substitution A G start_lost M1V 1A>G COCA-CN 16 23568392 23568392 single base substitution A G upstream_gene_variant COCA-CN 16 23573681 23573681 single base substitution T G downstream_gene_variant COCA-CN 16 23573681 23573681 single base substitution T G intron_variant COCA-CN 16 23573681 23573681 single base substitution T G upstream_gene_variant EOPC-DE 16 23573524 23573524 single base substitution T C downstream_gene_variant EOPC-DE 16 23573524 23573524 single base substitution T C exon_variant EOPC-DE 16 23573524 23573524 single base substitution T C splice_region_variant EOPC-DE 16 23573524 23573524 single base substitution T C upstream_gene_variant ESAD-UK 16 23564961 23564961 single base substitution C A upstream_gene_variant ESAD-UK 16 23568918 23568918 single base substitution A G 5_prime_UTR_variant ESAD-UK 16 23568918 23568918 single base substitution A G missense_variant E176G 527A>G ESAD-UK 16 23568918 23568918 single base substitution A G upstream_gene_variant ESAD-UK 16 23569551 23569551 single base substitution C T exon_variant ESAD-UK 16 23569551 23569551 single base substitution C T synonymous_variant P102P 306C>T ESAD-UK 16 23569551 23569551 single base substitution C T synonymous_variant P326P 978C>T ESAD-UK 16 23569551 23569551 single base substitution C T synonymous_variant P93P 279C>T ESAD-UK 16 23569551 23569551 single base substitution C T upstream_gene_variant ESAD-UK 16 23569744 23569744 single base substitution A C intron_variant ESAD-UK 16 23569744 23569744 single base substitution A C upstream_gene_variant ESAD-UK 16 23570468 23570468 single base substitution G C exon_variant ESAD-UK 16 23570468 23570468 single base substitution G C intron_variant ESAD-UK 16 23570468 23570468 single base substitution G C upstream_gene_variant ESAD-UK 16 23573478 23573478 single base substitution G A downstream_gene_variant ESAD-UK 16 23573478 23573478 single base substitution G A exon_variant ESAD-UK 16 23573478 23573478 single base substitution G A intron_variant ESAD-UK 16 23573478 23573478 single base substitution G A upstream_gene_variant ESAD-UK 16 23573958 23573958 single base substitution A G downstream_gene_variant ESAD-UK 16 23573958 23573958 single base substitution A G exon_variant ESAD-UK 16 23573958 23573958 single base substitution A G missense_variant T206A 616A>G ESAD-UK 16 23573958 23573958 single base substitution A G missense_variant T215A 643A>G ESAD-UK 16 23573958 23573958 single base substitution A G missense_variant T439A 1315A>G ESAD-UK 16 23573958 23573958 single base substitution A G upstream_gene_variant ESAD-UK 16 23574090 23574090 single base substitution C T downstream_gene_variant ESAD-UK 16 23574090 23574090 single base substitution C T intron_variant ESAD-UK 16 23574090 23574090 single base substitution C T upstream_gene_variant ESAD-UK 16 23577658 23577658 single base substitution G T downstream_gene_variant ESAD-UK 16 23577658 23577658 single base substitution G T exon_variant ESAD-UK 16 23577658 23577658 single base substitution G T intron_variant ESAD-UK 16 23577750 23577750 single base substitution C T downstream_gene_variant ESAD-UK 16 23577750 23577750 single base substitution C T exon_variant ESAD-UK 16 23577750 23577750 single base substitution C T intron_variant ESAD-UK 16 23578592 23578592 deletion of <=200bp A - downstream_gene_variant ESAD-UK 16 23578592 23578592 deletion of <=200bp A - intron_variant ESAD-UK 16 23578826 23578826 single base substitution C T downstream_gene_variant ESAD-UK 16 23578826 23578826 single base substitution C T intron_variant ESAD-UK 16 23579565 23579565 single base substitution C G downstream_gene_variant ESAD-UK 16 23579565 23579565 single base substitution C G intron_variant ESAD-UK 16 23579677 23579677 single base substitution C T downstream_gene_variant ESAD-UK 16 23579677 23579677 single base substitution C T intron_variant ESAD-UK 16 23579707 23579707 single base substitution T C downstream_gene_variant ESAD-UK 16 23579707 23579707 single base substitution T C intron_variant ESAD-UK 16 23579796 23579796 single base substitution A G downstream_gene_variant ESAD-UK 16 23579796 23579796 single base substitution A G intron_variant ESAD-UK 16 23579873 23579873 single base substitution G A downstream_gene_variant ESAD-UK 16 23579873 23579873 single base substitution G A intron_variant ESAD-UK 16 23580767 23580767 single base substitution T G intron_variant ESAD-UK 16 23581344 23581344 deletion of <=200bp T - intron_variant ESAD-UK 16 23585663 23585663 single base substitution A C 3_prime_UTR_variant ESAD-UK 16 23585663 23585663 single base substitution A C downstream_gene_variant ESAD-UK 16 23587228 23587228 single base substitution C T downstream_gene_variant ESAD-UK 16 23589879 23589879 insertion of <=200bp - AG downstream_gene_variant GBM-US 16 23570883 23570883 single base substitution C T downstream_gene_variant GBM-US 16 23570883 23570883 single base substitution C T exon_variant GBM-US 16 23570883 23570883 single base substitution C T synonymous_variant I141I 423C>T GBM-US 16 23570883 23570883 single base substitution C T synonymous_variant I150I 450C>T GBM-US 16 23570883 23570883 single base substitution C T synonymous_variant I374I 1122C>T GBM-US 16 23570883 23570883 single base substitution C T upstream_gene_variant KIRC-US 16 23573998 23573998 single base substitution A G downstream_gene_variant KIRC-US 16 23573998 23573998 single base substitution A G exon_variant KIRC-US 16 23573998 23573998 single base substitution A G missense_variant K219R 656A>G KIRC-US 16 23573998 23573998 single base substitution A G missense_variant K228R 683A>G KIRC-US 16 23573998 23573998 single base substitution A G missense_variant K452R 1355A>G KIRC-US 16 23573998 23573998 single base substitution A G upstream_gene_variant LAML-KR 16 23568892 23568892 single base substitution A G 5_prime_UTR_variant LAML-KR 16 23568892 23568892 single base substitution A G synonymous_variant R167R 501A>G LAML-KR 16 23568892 23568892 single base substitution A G upstream_gene_variant LAML-KR 16 23581678 23581678 single base substitution A G intron_variant LICA-FR 16 23568592 23568592 single base substitution G A synonymous_variant A67A 201G>A LICA-FR 16 23568592 23568592 single base substitution G A upstream_gene_variant LICA-FR 16 23582269 23582269 single base substitution T A 3_prime_UTR_variant LICA-FR 16 23582269 23582269 single base substitution T A downstream_gene_variant LINC-JP 16 23564733 23564733 single base substitution C T upstream_gene_variant LINC-JP 16 23566299 23566299 single base substitution T C upstream_gene_variant LINC-JP 16 23569593 23569593 single base substitution G A exon_variant LINC-JP 16 23569593 23569593 single base substitution G A synonymous_variant S107S 321G>A LINC-JP 16 23569593 23569593 single base substitution G A synonymous_variant S116S 348G>A LINC-JP 16 23569593 23569593 single base substitution G A synonymous_variant S340S 1020G>A LINC-JP 16 23569593 23569593 single base substitution G A upstream_gene_variant LINC-JP 16 23573293 23573293 single base substitution G A downstream_gene_variant LINC-JP 16 23573293 23573293 single base substitution G A exon_variant LINC-JP 16 23573293 23573293 single base substitution G A intron_variant LINC-JP 16 23573293 23573293 single base substitution G A upstream_gene_variant LINC-JP 16 23573573 23573573 single base substitution C T downstream_gene_variant LINC-JP 16 23573573 23573573 single base substitution C T exon_variant LINC-JP 16 23573573 23573573 single base substitution C T missense_variant P195L 584C>T LINC-JP 16 23573573 23573573 single base substitution C T missense_variant P204L 611C>T LINC-JP 16 23573573 23573573 single base substitution C T missense_variant P428L 1283C>T LINC-JP 16 23573573 23573573 single base substitution C T upstream_gene_variant LINC-JP 16 23574143 23574143 single base substitution T A downstream_gene_variant LINC-JP 16 23574143 23574143 single base substitution T A intron_variant LINC-JP 16 23574143 23574143 single base substitution T A upstream_gene_variant LINC-JP 16 23578490 23578490 single base substitution T G downstream_gene_variant LINC-JP 16 23578490 23578490 single base substitution T G intron_variant LIRI-JP 16 23563559 23563559 single base substitution C G upstream_gene_variant LIRI-JP 16 23565804 23565804 single base substitution C G upstream_gene_variant LIRI-JP 16 23567891 23567891 single base substitution T C upstream_gene_variant LIRI-JP 16 23568694 23568694 single base substitution C T 5_prime_UTR_variant LIRI-JP 16 23568694 23568694 single base substitution C T synonymous_variant L101L 303C>T LIRI-JP 16 23568694 23568694 single base substitution C T upstream_gene_variant LIRI-JP 16 23571563 23571563 single base substitution G C downstream_gene_variant LIRI-JP 16 23571563 23571563 single base substitution G C intron_variant LIRI-JP 16 23571563 23571563 single base substitution G C upstream_gene_variant LIRI-JP 16 23571617 23571617 single base substitution C T downstream_gene_variant LIRI-JP 16 23571617 23571617 single base substitution C T intron_variant LIRI-JP 16 23571617 23571617 single base substitution C T upstream_gene_variant LIRI-JP 16 23571943 23571943 single base substitution T G downstream_gene_variant LIRI-JP 16 23571943 23571943 single base substitution T G intron_variant LIRI-JP 16 23571943 23571943 single base substitution T G upstream_gene_variant LIRI-JP 16 23575720 23575720 single base substitution C T downstream_gene_variant LIRI-JP 16 23575720 23575720 single base substitution C T intron_variant LIRI-JP 16 23575720 23575720 single base substitution C T upstream_gene_variant LIRI-JP 16 23575783 23575783 single base substitution A T downstream_gene_variant LIRI-JP 16 23575783 23575783 single base substitution A T exon_variant LIRI-JP 16 23575783 23575783 single base substitution A T intron_variant LIRI-JP 16 23575783 23575783 single base substitution A T upstream_gene_variant LIRI-JP 16 23577994 23577994 single base substitution T G downstream_gene_variant LIRI-JP 16 23577994 23577994 single base substitution T G exon_variant LIRI-JP 16 23577994 23577994 single base substitution T G intron_variant LIRI-JP 16 23578279 23578279 deletion of <=200bp A - downstream_gene_variant LIRI-JP 16 23578279 23578279 deletion of <=200bp A - exon_variant LIRI-JP 16 23578279 23578279 deletion of <=200bp A - intron_variant LIRI-JP 16 23579630 23579630 single base substitution G A downstream_gene_variant LIRI-JP 16 23579630 23579630 single base substitution G A intron_variant LIRI-JP 16 23581100 23581100 single base substitution T G intron_variant LIRI-JP 16 23581618 23581618 single base substitution A T intron_variant LIRI-JP 16 23583935 23583935 insertion of <=200bp - T 3_prime_UTR_variant LIRI-JP 16 23583935 23583935 insertion of <=200bp - T downstream_gene_variant LIRI-JP 16 23584109 23584109 single base substitution A G 3_prime_UTR_variant LIRI-JP 16 23584109 23584109 single base substitution A G downstream_gene_variant LIRI-JP 16 23586060 23586060 single base substitution A G downstream_gene_variant LIRI-JP 16 23589903 23589903 single base substitution T C downstream_gene_variant LUSC-CN 16 23584098 23584098 single base substitution C T 3_prime_UTR_variant LUSC-CN 16 23584098 23584098 single base substitution C T downstream_gene_variant LUSC-KR 16 23564890 23564890 single base substitution C A upstream_gene_variant LUSC-KR 16 23573833 23573833 single base substitution A C downstream_gene_variant LUSC-KR 16 23573833 23573833 single base substitution A C intron_variant LUSC-KR 16 23573833 23573833 single base substitution A C upstream_gene_variant LUSC-KR 16 23576533 23576533 single base substitution G A downstream_gene_variant LUSC-KR 16 23576533 23576533 single base substitution G A exon_variant LUSC-KR 16 23576533 23576533 single base substitution G A intron_variant LUSC-KR 16 23578989 23578989 single base substitution A G downstream_gene_variant LUSC-KR 16 23578989 23578989 single base substitution A G intron_variant LUSC-KR 16 23579847 23579847 single base substitution G A downstream_gene_variant LUSC-KR 16 23579847 23579847 single base substitution G A intron_variant LUSC-KR 16 23582153 23582153 single base substitution G A 3_prime_UTR_variant LUSC-KR 16 23582153 23582153 single base substitution G A downstream_gene_variant LUSC-KR 16 23582153 23582153 single base substitution G A exon_variant LUSC-KR 16 23583073 23583073 single base substitution G A 3_prime_UTR_variant LUSC-KR 16 23583073 23583073 single base substitution G A downstream_gene_variant LUSC-KR 16 23583111 23583111 single base substitution T C 3_prime_UTR_variant LUSC-KR 16 23583111 23583111 single base substitution T C downstream_gene_variant LUSC-KR 16 23583328 23583328 single base substitution A C 3_prime_UTR_variant LUSC-KR 16 23583328 23583328 single base substitution A C downstream_gene_variant LUSC-KR 16 23583415 23583415 single base substitution A G 3_prime_UTR_variant LUSC-KR 16 23583415 23583415 single base substitution A G downstream_gene_variant LUSC-KR 16 23584832 23584832 single base substitution C G 3_prime_UTR_variant LUSC-KR 16 23584832 23584832 single base substitution C G downstream_gene_variant LUSC-KR 16 23587828 23587828 single base substitution C T downstream_gene_variant MALY-DE 16 23565776 23565776 single base substitution G A upstream_gene_variant MALY-DE 16 23566240 23566240 single base substitution C A upstream_gene_variant MALY-DE 16 23572188 23572188 single base substitution C T downstream_gene_variant MALY-DE 16 23572188 23572188 single base substitution C T intron_variant MALY-DE 16 23572188 23572188 single base substitution C T upstream_gene_variant MALY-DE 16 23572491 23572491 single base substitution C T downstream_gene_variant MALY-DE 16 23572491 23572491 single base substitution C T intron_variant MALY-DE 16 23572491 23572491 single base substitution C T upstream_gene_variant MELA-AU 16 23564046 23564046 single base substitution A G upstream_gene_variant MELA-AU 16 23564138 23564138 single base substitution G A upstream_gene_variant MELA-AU 16 23564279 23564279 single base substitution G C upstream_gene_variant MELA-AU 16 23564918 23564918 single base substitution G A upstream_gene_variant MELA-AU 16 23565222 23565222 single base substitution A G upstream_gene_variant MELA-AU 16 23565485 23565485 single base substitution C T upstream_gene_variant MELA-AU 16 23566026 23566026 single base substitution G A upstream_gene_variant MELA-AU 16 23567376 23567376 single base substitution C G upstream_gene_variant MELA-AU 16 23567550 23567550 single base substitution C T upstream_gene_variant MELA-AU 16 23568695 23568695 single base substitution C T 5_prime_UTR_variant MELA-AU 16 23568695 23568695 single base substitution C T missense_variant P102S 304C>T MELA-AU 16 23568695 23568695 single base substitution C T upstream_gene_variant MELA-AU 16 23568707 23568707 single base substitution C T 5_prime_UTR_variant MELA-AU 16 23568707 23568707 single base substitution C T missense_variant P106S 316C>T MELA-AU 16 23568707 23568707 single base substitution C T upstream_gene_variant MELA-AU 16 23568860 23568860 single base substitution C T 5_prime_UTR_variant MELA-AU 16 23568860 23568860 single base substitution C T missense_variant P157S 469C>T MELA-AU 16 23568860 23568860 single base substitution C T upstream_gene_variant MELA-AU 16 23568941 23568941 single base substitution G A 5_prime_UTR_variant MELA-AU 16 23568941 23568941 single base substitution G A missense_variant E184K 550G>A MELA-AU 16 23568941 23568941 single base substitution G A upstream_gene_variant MELA-AU 16 23572776 23572776 single base substitution T C downstream_gene_variant MELA-AU 16 23572776 23572776 single base substitution T C intron_variant MELA-AU 16 23572776 23572776 single base substitution T C upstream_gene_variant MELA-AU 16 23572879 23572879 single base substitution A T downstream_gene_variant MELA-AU 16 23572879 23572879 single base substitution A T intron_variant MELA-AU 16 23572879 23572879 single base substitution A T upstream_gene_variant MELA-AU 16 23572976 23572976 single base substitution C T downstream_gene_variant MELA-AU 16 23572976 23572976 single base substitution C T intron_variant MELA-AU 16 23572976 23572976 single base substitution C T upstream_gene_variant MELA-AU 16 23574650 23574650 single base substitution C T downstream_gene_variant MELA-AU 16 23574650 23574650 single base substitution C T intron_variant MELA-AU 16 23574650 23574650 single base substitution C T upstream_gene_variant MELA-AU 16 23574657 23574657 single base substitution C T downstream_gene_variant MELA-AU 16 23574657 23574657 single base substitution C T intron_variant MELA-AU 16 23574657 23574657 single base substitution C T upstream_gene_variant MELA-AU 16 23574969 23574969 single base substitution C T downstream_gene_variant MELA-AU 16 23574969 23574969 single base substitution C T intron_variant MELA-AU 16 23574969 23574969 single base substitution C T upstream_gene_variant MELA-AU 16 23575255 23575255 single base substitution C T downstream_gene_variant MELA-AU 16 23575255 23575255 single base substitution C T intron_variant MELA-AU 16 23575255 23575255 single base substitution C T upstream_gene_variant MELA-AU 16 23575779 23575779 single base substitution T G downstream_gene_variant MELA-AU 16 23575779 23575779 single base substitution T G intron_variant MELA-AU 16 23575779 23575779 single base substitution T G upstream_gene_variant MELA-AU 16 23576548 23576548 single base substitution C G downstream_gene_variant MELA-AU 16 23576548 23576548 single base substitution C G exon_variant MELA-AU 16 23576548 23576548 single base substitution C G intron_variant MELA-AU 16 23576930 23576930 single base substitution G A downstream_gene_variant MELA-AU 16 23576930 23576930 single base substitution G A exon_variant MELA-AU 16 23576930 23576930 single base substitution G A intron_variant MELA-AU 16 23577407 23577431 deletion of <=200bp TTAATCACAAAAGGTTATAAATGTT - downstream_gene_variant MELA-AU 16 23577407 23577431 deletion of <=200bp TTAATCACAAAAGGTTATAAATGTT - exon_variant MELA-AU 16 23577407 23577431 deletion of <=200bp TTAATCACAAAAGGTTATAAATGTT - intron_variant MELA-AU 16 23577944 23577944 single base substitution C T downstream_gene_variant MELA-AU 16 23577944 23577944 single base substitution C T exon_variant MELA-AU 16 23577944 23577944 single base substitution C T intron_variant MELA-AU 16 23580183 23580183 single base substitution G A downstream_gene_variant MELA-AU 16 23580183 23580183 single base substitution G A intron_variant MELA-AU 16 23581056 23581056 single base substitution C T intron_variant MELA-AU 16 23581076 23581076 single base substitution C T intron_variant MELA-AU 16 23581551 23581551 single base substitution C T intron_variant MELA-AU 16 23581816 23581817 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 16 23581816 23581817 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P270F 808CC>TT MELA-AU 16 23581816 23581817 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P279F 835CC>TT MELA-AU 16 23581816 23581817 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P503F 1507CC>TT MELA-AU 16 23581944 23581944 single base substitution C T 3_prime_UTR_variant MELA-AU 16 23581944 23581944 single base substitution C T downstream_gene_variant MELA-AU 16 23581944 23581944 single base substitution C T exon_variant MELA-AU 16 23582558 23582558 single base substitution C T 3_prime_UTR_variant MELA-AU 16 23582558 23582558 single base substitution C T downstream_gene_variant MELA-AU 16 23582926 23582926 single base substitution A G 3_prime_UTR_variant MELA-AU 16 23582926 23582926 single base substitution A G downstream_gene_variant MELA-AU 16 23583151 23583151 single base substitution C T 3_prime_UTR_variant MELA-AU 16 23583151 23583151 single base substitution C T downstream_gene_variant MELA-AU 16 23583627 23583627 single base substitution C T 3_prime_UTR_variant MELA-AU 16 23583627 23583627 single base substitution C T downstream_gene_variant MELA-AU 16 23583684 23583684 single base substitution T G 3_prime_UTR_variant MELA-AU 16 23583684 23583684 single base substitution T G downstream_gene_variant MELA-AU 16 23583739 23583739 single base substitution G A 3_prime_UTR_variant MELA-AU 16 23583739 23583739 single base substitution G A downstream_gene_variant MELA-AU 16 23583952 23583952 single base substitution C T 3_prime_UTR_variant MELA-AU 16 23583952 23583952 single base substitution C T downstream_gene_variant MELA-AU 16 23583954 23583954 single base substitution C T 3_prime_UTR_variant MELA-AU 16 23583954 23583954 single base substitution C T downstream_gene_variant MELA-AU 16 23584295 23584295 single base substitution C T 3_prime_UTR_variant MELA-AU 16 23584295 23584295 single base substitution C T downstream_gene_variant MELA-AU 16 23584606 23584606 single base substitution G A 3_prime_UTR_variant MELA-AU 16 23584606 23584606 single base substitution G A downstream_gene_variant MELA-AU 16 23585011 23585011 single base substitution C T 3_prime_UTR_variant MELA-AU 16 23585011 23585011 single base substitution C T downstream_gene_variant MELA-AU 16 23585341 23585341 single base substitution C T 3_prime_UTR_variant MELA-AU 16 23585341 23585341 single base substitution C T downstream_gene_variant MELA-AU 16 23585648 23585648 single base substitution T G 3_prime_UTR_variant MELA-AU 16 23585648 23585648 single base substitution T G downstream_gene_variant MELA-AU 16 23585690 23585690 single base substitution C T 3_prime_UTR_variant MELA-AU 16 23585690 23585690 single base substitution C T downstream_gene_variant MELA-AU 16 23585710 23585710 single base substitution A G 3_prime_UTR_variant MELA-AU 16 23585710 23585710 single base substitution A G downstream_gene_variant MELA-AU 16 23586661 23586661 single base substitution G A downstream_gene_variant MELA-AU 16 23587503 23587503 single base substitution G A downstream_gene_variant MELA-AU 16 23588302 23588302 single base substitution C T downstream_gene_variant MELA-AU 16 23588418 23588418 single base substitution G A downstream_gene_variant MELA-AU 16 23588578 23588578 single base substitution C T downstream_gene_variant ORCA-IN 16 23566681 23566681 single base substitution C G upstream_gene_variant ORCA-IN 16 23572272 23572272 single base substitution G A downstream_gene_variant ORCA-IN 16 23572272 23572272 single base substitution G A intron_variant ORCA-IN 16 23572272 23572272 single base substitution G A upstream_gene_variant ORCA-IN 16 23590227 23590227 single base substitution G C downstream_gene_variant OV-AU 16 23567762 23567762 single base substitution A C upstream_gene_variant OV-AU 16 23574019 23574019 single base substitution T G downstream_gene_variant OV-AU 16 23574019 23574019 single base substitution T G exon_variant OV-AU 16 23574019 23574019 single base substitution T G missense_variant L226R 677T>G OV-AU 16 23574019 23574019 single base substitution T G missense_variant L235R 704T>G OV-AU 16 23574019 23574019 single base substitution T G missense_variant L459R 1376T>G OV-AU 16 23574019 23574019 single base substitution T G upstream_gene_variant OV-AU 16 23575704 23575704 single base substitution C T downstream_gene_variant OV-AU 16 23575704 23575704 single base substitution C T intron_variant OV-AU 16 23575704 23575704 single base substitution C T upstream_gene_variant OV-AU 16 23578206 23578206 single base substitution C A downstream_gene_variant OV-AU 16 23578206 23578206 single base substitution C A exon_variant OV-AU 16 23578206 23578206 single base substitution C A intron_variant OV-AU 16 23584025 23584025 single base substitution G C 3_prime_UTR_variant OV-AU 16 23584025 23584025 single base substitution G C downstream_gene_variant OV-AU 16 23584902 23584902 single base substitution C A 3_prime_UTR_variant OV-AU 16 23584902 23584902 single base substitution C A downstream_gene_variant OV-AU 16 23589586 23589586 single base substitution G A downstream_gene_variant OV-AU 16 23590308 23590308 single base substitution G A downstream_gene_variant PACA-AU 16 23563495 23563503 deletion of <=200bp ATTCTCCGC - upstream_gene_variant PACA-AU 16 23563649 23563649 single base substitution A T upstream_gene_variant PACA-AU 16 23567293 23567293 single base substitution T C upstream_gene_variant PACA-AU 16 23568652 23568652 single base substitution G A synonymous_variant Q87Q 261G>A PACA-AU 16 23568652 23568652 single base substitution G A upstream_gene_variant PACA-AU 16 23576709 23576709 single base substitution G A downstream_gene_variant PACA-AU 16 23576709 23576709 single base substitution G A exon_variant PACA-AU 16 23576709 23576709 single base substitution G A intron_variant PACA-AU 16 23576763 23576763 single base substitution C A downstream_gene_variant PACA-AU 16 23576763 23576763 single base substitution C A exon_variant PACA-AU 16 23576763 23576763 single base substitution C A intron_variant PACA-CA 16 23568408 23568408 deletion of <=200bp T - frameshift_variant L6 PACA-CA 16 23568408 23568408 deletion of <=200bp T - upstream_gene_variant PACA-CA 16 23570363 23570363 single base substitution A T exon_variant PACA-CA 16 23570363 23570363 single base substitution A T intron_variant PACA-CA 16 23570363 23570363 single base substitution A T upstream_gene_variant PACA-CA 16 23575769 23575769 single base substitution T G downstream_gene_variant PACA-CA 16 23575769 23575769 single base substitution T G intron_variant PACA-CA 16 23575769 23575769 single base substitution T G upstream_gene_variant PACA-CA 16 23578592 23578592 single base substitution A C downstream_gene_variant PACA-CA 16 23578592 23578592 single base substitution A C intron_variant PACA-CA 16 23579711 23579711 single base substitution C A downstream_gene_variant PACA-CA 16 23579711 23579711 single base substitution C A intron_variant PACA-CA 16 23581767 23581767 single base substitution G C intron_variant PACA-CA 16 23585573 23585573 single base substitution T C 3_prime_UTR_variant PACA-CA 16 23585573 23585573 single base substitution T C downstream_gene_variant PACA-CA 16 23585687 23585687 single base substitution A G 3_prime_UTR_variant PACA-CA 16 23585687 23585687 single base substitution A G downstream_gene_variant PACA-CA 16 23588285 23588285 single base substitution G A downstream_gene_variant PACA-CA 16 23588743 23588743 single base substitution G A downstream_gene_variant PBCA-DE 16 23578041 23578043 deletion of <=200bp GAA - downstream_gene_variant PBCA-DE 16 23578041 23578043 deletion of <=200bp GAA - exon_variant PBCA-DE 16 23578041 23578043 deletion of <=200bp GAA - intron_variant PRAD-CA 16 23578444 23578444 single base substitution G A downstream_gene_variant PRAD-CA 16 23578444 23578444 single base substitution G A intron_variant PRAD-CA 16 23582270 23582270 single base substitution A T 3_prime_UTR_variant PRAD-CA 16 23582270 23582270 single base substitution A T downstream_gene_variant PRAD-US 16 23578315 23578315 single base substitution T C downstream_gene_variant PRAD-US 16 23578315 23578315 single base substitution T C exon_variant PRAD-US 16 23578315 23578315 single base substitution T C synonymous_variant T239T 717T>C PRAD-US 16 23578315 23578315 single base substitution T C synonymous_variant T248T 744T>C PRAD-US 16 23578315 23578315 single base substitution T C synonymous_variant T472T 1416T>C READ-US 16 23578364 23578364 single base substitution G A downstream_gene_variant READ-US 16 23578364 23578364 single base substitution G A exon_variant READ-US 16 23578364 23578364 single base substitution G A missense_variant E256K 766G>A READ-US 16 23578364 23578364 single base substitution G A missense_variant E265K 793G>A READ-US 16 23578364 23578364 single base substitution G A missense_variant E489K 1465G>A SKCA-BR 16 23564554 23564554 single base substitution G A upstream_gene_variant SKCA-BR 16 23566891 23566891 single base substitution A T upstream_gene_variant SKCA-BR 16 23568707 23568707 single base substitution C T 5_prime_UTR_variant SKCA-BR 16 23568707 23568707 single base substitution C T missense_variant P106S 316C>T SKCA-BR 16 23568707 23568707 single base substitution C T upstream_gene_variant SKCA-BR 16 23570791 23570791 single base substitution C T exon_variant SKCA-BR 16 23570791 23570791 single base substitution C T missense_variant L111F 331C>T SKCA-BR 16 23570791 23570791 single base substitution C T missense_variant L120F 358C>T SKCA-BR 16 23570791 23570791 single base substitution C T missense_variant L344F 1030C>T SKCA-BR 16 23570791 23570791 single base substitution C T splice_region_variant SKCA-BR 16 23570791 23570791 single base substitution C T upstream_gene_variant SKCA-BR 16 23572183 23572183 single base substitution G A downstream_gene_variant SKCA-BR 16 23572183 23572183 single base substitution G A intron_variant SKCA-BR 16 23572183 23572183 single base substitution G A upstream_gene_variant SKCA-BR 16 23574885 23574885 single base substitution C T downstream_gene_variant SKCA-BR 16 23574885 23574885 single base substitution C T intron_variant SKCA-BR 16 23574885 23574885 single base substitution C T upstream_gene_variant SKCA-BR 16 23579186 23579186 single base substitution C T downstream_gene_variant SKCA-BR 16 23579186 23579186 single base substitution C T intron_variant SKCA-BR 16 23583486 23583486 single base substitution C T 3_prime_UTR_variant SKCA-BR 16 23583486 23583486 single base substitution C T downstream_gene_variant SKCA-BR 16 23587924 23587924 single base substitution G A downstream_gene_variant SKCA-BR 16 23589483 23589483 single base substitution G A downstream_gene_variant SKCA-BR 16 23590134 23590134 single base substitution G T downstream_gene_variant SKCA-BR 16 23590372 23590372 single base substitution C A downstream_gene_variant SKCM-US 16 23563520 23563520 single base substitution C T upstream_gene_variant SKCM-US 16 23569076 23569076 deletion of <=200bp G - exon_variant SKCM-US 16 23569076 23569076 deletion of <=200bp G - frameshift_variant G229 SKCM-US 16 23569076 23569076 deletion of <=200bp G - frameshift_variant G5 SKCM-US 16 23569076 23569076 deletion of <=200bp G - intron_variant SKCM-US 16 23569076 23569076 deletion of <=200bp G - upstream_gene_variant SKCM-US 16 23569288 23569288 single base substitution A G exon_variant SKCM-US 16 23569288 23569288 single base substitution A G missense_variant M15V 43A>G SKCM-US 16 23569288 23569288 single base substitution A G missense_variant M239V 715A>G SKCM-US 16 23569288 23569288 single base substitution A G missense_variant M6V 16A>G SKCM-US 16 23569288 23569288 single base substitution A G upstream_gene_variant SKCM-US 16 23578329 23578329 insertion of <=200bp - G downstream_gene_variant SKCM-US 16 23578329 23578329 insertion of <=200bp - G exon_variant SKCM-US 16 23578329 23578329 insertion of <=200bp - G frameshift_variant M244S? SKCM-US 16 23578329 23578329 insertion of <=200bp - G frameshift_variant M253S? SKCM-US 16 23578329 23578329 insertion of <=200bp - G frameshift_variant M477S? SKCM-US 16 23581893 23581893 single base substitution G A exon_variant SKCM-US 16 23581893 23581893 single base substitution G A synonymous_variant G295G 885G>A SKCM-US 16 23581893 23581893 single base substitution G A synonymous_variant G304G 912G>A SKCM-US 16 23581893 23581893 single base substitution G A synonymous_variant G528G 1584G>A STAD-US 16 23563615 23563615 single base substitution G A upstream_gene_variant STAD-US 16 23569435 23569435 single base substitution G A exon_variant STAD-US 16 23569435 23569435 single base substitution G A missense_variant D288N 862G>A STAD-US 16 23569435 23569435 single base substitution G A missense_variant D55N 163G>A STAD-US 16 23569435 23569435 single base substitution G A missense_variant D64N 190G>A STAD-US 16 23569435 23569435 single base substitution G A upstream_gene_variant STAD-US 16 23569516 23569516 single base substitution A G exon_variant STAD-US 16 23569516 23569516 single base substitution A G missense_variant I315V 943A>G STAD-US 16 23569516 23569516 single base substitution A G missense_variant I82V 244A>G STAD-US 16 23569516 23569516 single base substitution A G missense_variant I91V 271A>G STAD-US 16 23569516 23569516 single base substitution A G upstream_gene_variant STAD-US 16 23578341 23578341 single base substitution A C downstream_gene_variant STAD-US 16 23578341 23578341 single base substitution A C exon_variant STAD-US 16 23578341 23578341 single base substitution A C missense_variant K248T 743A>C STAD-US 16 23578341 23578341 single base substitution A C missense_variant K257T 770A>C STAD-US 16 23578341 23578341 single base substitution A C missense_variant K481T 1442A>C UCEC-US 16 23569566 23569566 single base substitution C A exon_variant UCEC-US 16 23569566 23569566 single base substitution C A synonymous_variant G107G 321C>A UCEC-US 16 23569566 23569566 single base substitution C A synonymous_variant G331G 993C>A UCEC-US 16 23569566 23569566 single base substitution C A synonymous_variant G98G 294C>A UCEC-US 16 23569566 23569566 single base substitution C A upstream_gene_variant UCEC-US 16 23578376 23578376 single base substitution G A downstream_gene_variant UCEC-US 16 23578376 23578376 single base substitution G A exon_variant UCEC-US 16 23578376 23578376 single base substitution G A missense_variant D260N 778G>A UCEC-US 16 23578376 23578376 single base substitution G A missense_variant D269N 805G>A UCEC-US 16 23578376 23578376 single base substitution G A missense_variant D493N 1477G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-18-T COSM4508124 c.765C>T p.S255S Substitution - coding silent 16:23567015-23567015 + 2521260 COSM5891504 c.7G>A p.A3T Substitution - Missense 16:23557749-23557749 + TCGA-EK-A2H0-01 COSM4819057 c.532G>T p.E178* Substitution - Nonsense 16:23559644-23559644 + HCC132T COSM1609104 c.348G>A p.S116S Substitution - coding silent 16:23558272-23558272 + TCGA-F4-6570-01 COSM1376802 c.839C>T p.T280M Substitution - Missense 16:23570499-23570499 + XHDG40 COSM4770098 c.410A>C p.K137T Substitution - Missense 16:23559522-23559522 + Pat_53_B COSM5850499 c.320G>A p.G107D Substitution - Missense 16:23558244-23558244 + Pat_60_A COSM5850497 c.209C>T p.S70L Substitution - Missense 16:23558133-23558133 + TCGA-19-2619-01 COSM2156142 c.450C>T p.I150I Substitution - coding silent 16:23559562-23559562 + LUAD-CHTN-MAD06-00668 COSM358996 c.164A>C p.Q55P Substitution - Missense 16:23558088-23558088 + AOCS-088-3-8 COSM3948393 c.704T>G p.L235R Substitution - Missense 16:23562698-23562698 + 1N26-VS-1T26 COSM4973488 c.773A>T p.N258I Substitution - Missense 16:23567023-23567023 + BD190T COSM5517796 c.552C>T p.L184L Substitution - coding silent 16:23559664-23559664 + TCGA-CM-6171-01 COSM1376801 c.822G>A p.A274A Substitution - coding silent 16:23570482-23570482 + SC_9047 COSM5567715 c.657C>T p.S219S Substitution - coding silent 16:23562651-23562651 + TCGA-CK-6748-01 COSM5155818 c.40G>A p.G14S Substitution - Missense 16:23557964-23557964 + TCGA-A6-6781-01 COSM1376800 c.736G>T p.E246* Substitution - Nonsense 16:23562730-23562730 + EWS834 COSM4578834 c.360C>G p.L120L Substitution - coding silent 16:23559472-23559472 + TCGA-AA-A010-01 COSM286243 c.898G>T p.D300Y Substitution - Missense 16:23570558-23570558 + TCGA-HF-7132-01 COSM4059414 c.271A>G p.I91V Substitution - Missense 16:23558195-23558195 + BN23 COSM1609105 c.611C>T p.P204L Substitution - Missense 16:23562252-23562252 + S02120 COSM5673532 c.853T>C p.Y285H Substitution - Missense 16:23570513-23570513 + TCGA-AP-A059-01 COSM968795 c.805G>A p.D269N Substitution - Missense 16:23567055-23567055 + TCGA-HU-A4GH-01 COSM4059416 c.770A>C p.K257T Substitution - Missense 16:23567020-23567020 + HCC132 COSM1609104 c.348G>A p.S116S Substitution - coding silent 16:23558272-23558272 + 234 COSM1376801 c.822G>A p.A274A Substitution - coding silent 16:23570482-23570482 + TCGA-CW-5588-01 COSM471503 c.518A>G p.D173G Substitution - Missense 16:23559630-23559630 + S0083 COSM5882686 c.614C>T p.S205F Substitution - Missense 16:23562255-23562255 + TCGA-D1-A177-01 COSM968794 c.321C>A p.G107G Substitution - coding silent 16:23558245-23558245 + EOPC-08_tumor COSM3716469 c.565-3T>C p.? Unknown 16:23562203-23562203 + TCGA-C5-A1M6-01 COSM4826600 c.635G>A p.R212H Substitution - Missense 16:23562629-23562629 + C709 COSM4443880 c.658G>T p.G220C Substitution - Missense 16:23562652-23562652 + TCGA-AA-3811-01 COSM5108912 c.754C>T p.P252S Substitution - Missense 16:23567004-23567004 + CRC-1 COSM304238 c.570C>G p.H190Q Substitution - Missense 16:23562211-23562211 + TCGA-BF-A3DM-01 COSM3888230 c.43A>G p.M15V Substitution - Missense 16:23557967-23557967 + TCGA-DK-A3X1-01 COSM3794699 c.894C>G p.I298M Substitution - Missense 16:23570554-23570554 + TCGA-BR-8680-01 COSM4059412 c.190G>A p.D64N Substitution - Missense 16:23558114-23558114 + TCGA-19-2619 COSM2156142 c.450C>T p.I150I Substitution - coding silent 16:23559562-23559562 + 3844_T COSM3957348 c.822G>T p.A274A Substitution - coding silent 16:23570482-23570482 + TCGA-EE-A2GC-06 COSM3507832 c.912G>A p.G304G Substitution - coding silent 16:23570572-23570572 + TCGA-F5-6814-01 COSM3420865 c.793G>A p.E265K Substitution - Missense 16:23567043-23567043 + BN23T COSM1609105 c.611C>T p.P204L Substitution - Missense 16:23562252-23562252 + TCGA-CM-4751-01 COSM5157111 c.402C>T p.P134P Substitution - coding silent 16:23559514-23559514 + TCGA-A8-A09K-01 COSM1478671 c.587A>G p.K196R Substitution - Missense 16:23562228-23562228 + TCGA-HC-A6AN-01 COSM4392885 c.744T>C p.T248T Substitution - coding silent 16:23566994-23566994 + SM-4AX83 COSM5953278 c.643A>G p.T215A Substitution - Missense 16:23562637-23562637 + TCGA-B0-4714-01 COSM3361687 c.683A>G p.K228R Substitution - Missense 16:23562677-23562677 + TCGA-DM-A1D7-01 COSM1376799 c.301T>C p.F101L Substitution - Missense 16:23558225-23558225 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.3459 16p12

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.K196R c.587A>G 16 23573549 BRCA A G Missense p.K228R c.683A>G 16 23573998 RCCC A G Missense p.M15V c.43A>G 16 23569288 CM A T Missense p.K228N c.684A>T 16 23573999 LUAD C A Synonymous p.G107G c.321C>A 16 23569566 UCEC CC TT Missense p.P134L c.401_402delinsTT 16 23570834 CM C T Missense p.L120F c.358C>T 16 23570791 CM C T Synonymous p.I150I c.450C>T 16 23570883 GBM C T Synonymous p.L132L c.396C>T 16 23570829 HNSC G A 3-UTRSNV . c.927+812G>A 16 23582720 DLBCL G A Missense p.V71I c.211G>A 16 23569456 LUAD G A Synonymous p.G304G c.912G>A 16 23581893 CM G A Synonymous p.L139L c.417G>A 16 23570850 HNSC G - Frameshift p.A6Pfs*83 c.16delG 16 23569076 CM - T 3-UTRInsertion . c.927+2028dupT 16 23583935 HC T C Synonymous p.T248T c.744T>C 16 23578315 PRAD T G IntronicSNV . c.737-314T>G 16 23577994 HC