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 67195736 67195736 + Silent SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr16:67195736C>T c.48C>T c.(46-48)atC>atT p.I16I BLCA 16 67196840 67196840 + Missense_Mutation SNP C C T TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr16:67196840C>T c.242C>T c.(241-243)tCg>tTg p.S81L BLCA 16 67197480 67197480 + Silent SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 g.chr16:67197480C>T c.882C>T c.(880-882)ttC>ttT p.F294F BLCA 16 67197579 67197579 + Silent SNP C C T TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 g.chr16:67197579C>T c.981C>T c.(979-981)tgC>tgT p.C327C BRCA 16 67196909 67196909 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr16:67196909G>A c.311G>A c.(310-312)cGa>cAa p.R104Q BRCA 16 67196943 67196943 + Silent SNP G G A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 g.chr16:67196943G>A c.345G>A c.(343-345)ccG>ccA p.P115P CESC 16 67197223 67197223 + Missense_Mutation SNP G G C TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 g.chr16:67197223G>C c.625G>C c.(625-627)Gaa>Caa p.E209Q COAD 16 67197171 67197171 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr16:67197171G>A c.573G>A c.(571-573)ccG>ccA p.P191P COADREAD 16 67197171 67197171 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr16:67197171G>A c.573G>A c.(571-573)ccG>ccA p.P191P ESCA 16 67197703 67197703 + Missense_Mutation SNP A A G TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 g.chr16:67197703A>G c.1105A>G c.(1105-1107)Agg>Ggg p.R369G HNSC 16 67195837 67195837 + Missense_Mutation SNP T T A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr16:67195837T>A c.149T>A c.(148-150)aTc>aAc p.I50N HNSC 16 67197515 67197515 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr16:67197515T>C c.917T>C c.(916-918)cTc>cCc p.L306P HNSC 16 67197675 67197675 + Silent SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr16:67197675C>G c.1077C>G c.(1075-1077)ctC>ctG p.L359L PRAD 16 67195834 67195834 + Missense_Mutation SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:67195834A>G c.146A>G c.(145-147)aAa>aGa p.K49R SKCM 16 67197714 67197714 + De_novo_Start_OutOfFrame SNP C C A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr16:67197714C>A

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 16 67199470 67199470 single base substitution G A downstream_gene_variant BLCA-US 16 67190499 67190499 single base substitution G A upstream_gene_variant BLCA-US 16 67195736 67195736 single base substitution C T exon_variant BLCA-US 16 67195736 67195736 single base substitution C T synonymous_variant I16I 48C>T BLCA-US 16 67196840 67196840 single base substitution C T 3_prime_UTR_variant BLCA-US 16 67196840 67196840 single base substitution C T downstream_gene_variant BLCA-US 16 67196840 67196840 single base substitution C T intron_variant BLCA-US 16 67196840 67196840 single base substitution C T missense_variant S81L 242C>T BLCA-US 16 67197579 67197579 single base substitution C T 3_prime_UTR_variant BLCA-US 16 67197579 67197579 single base substitution C T downstream_gene_variant BLCA-US 16 67197579 67197579 single base substitution C T intron_variant BLCA-US 16 67197579 67197579 single base substitution C T synonymous_variant C327C 981C>T BLCA-US 16 67201421 67201421 single base substitution G A downstream_gene_variant BLCA-US 16 67203215 67203215 single base substitution G C downstream_gene_variant BRCA-EU 16 67189558 67189558 single base substitution C G upstream_gene_variant BRCA-EU 16 67189828 67189828 single base substitution G C upstream_gene_variant BRCA-EU 16 67190232 67190232 single base substitution G C upstream_gene_variant BRCA-EU 16 67190622 67190622 single base substitution T A upstream_gene_variant BRCA-EU 16 67191653 67191653 single base substitution C G upstream_gene_variant BRCA-EU 16 67192230 67192230 single base substitution G A upstream_gene_variant BRCA-EU 16 67192849 67192849 single base substitution C G upstream_gene_variant BRCA-EU 16 67194032 67194032 single base substitution G A intron_variant BRCA-EU 16 67194032 67194032 single base substitution G A upstream_gene_variant BRCA-EU 16 67194935 67194935 single base substitution C G intron_variant BRCA-EU 16 67194935 67194935 single base substitution C G upstream_gene_variant BRCA-EU 16 67195786 67195786 single base substitution G A exon_variant BRCA-EU 16 67195786 67195786 single base substitution G A missense_variant R33K 98G>A BRCA-EU 16 67196393 67196393 single base substitution G C 3_prime_UTR_variant BRCA-EU 16 67196393 67196393 single base substitution G C intron_variant BRCA-EU 16 67196678 67196712 deletion of <=200bp AGGGGTGGGTAGAGGCTTCTCCGCTGGTCGCAGGG - 3_prime_UTR_variant BRCA-EU 16 67196678 67196712 deletion of <=200bp AGGGGTGGGTAGAGGCTTCTCCGCTGGTCGCAGGG - downstream_gene_variant BRCA-EU 16 67196678 67196712 deletion of <=200bp AGGGGTGGGTAGAGGCTTCTCCGCTGGTCGCAGGG - intron_variant BRCA-EU 16 67199256 67199256 single base substitution C T downstream_gene_variant BRCA-EU 16 67199612 67199612 single base substitution C T downstream_gene_variant BRCA-EU 16 67199828 67199828 single base substitution G T downstream_gene_variant BRCA-EU 16 67200086 67200086 single base substitution C G downstream_gene_variant BRCA-EU 16 67200736 67200736 single base substitution A T downstream_gene_variant BRCA-EU 16 67201208 67201208 single base substitution A G downstream_gene_variant BRCA-EU 16 67201885 67201885 single base substitution G A downstream_gene_variant BRCA-EU 16 67202059 67202059 single base substitution G C downstream_gene_variant BRCA-EU 16 67203029 67203029 single base substitution G C downstream_gene_variant BRCA-FR 16 67189828 67189828 single base substitution G C upstream_gene_variant BRCA-FR 16 67199612 67199612 single base substitution C T downstream_gene_variant BRCA-FR 16 67199828 67199828 single base substitution G T downstream_gene_variant BRCA-KR 16 67200417 67200417 single base substitution G T downstream_gene_variant BRCA-US 16 67190457 67190457 insertion of <=200bp - G upstream_gene_variant BRCA-US 16 67190466 67190466 single base substitution G A upstream_gene_variant BRCA-US 16 67196909 67196909 single base substitution G A downstream_gene_variant BRCA-US 16 67196909 67196909 single base substitution G A intron_variant BRCA-US 16 67196909 67196909 single base substitution G A missense_variant R104Q 311G>A BRCA-US 16 67196943 67196943 single base substitution G A downstream_gene_variant BRCA-US 16 67196943 67196943 single base substitution G A intron_variant BRCA-US 16 67196943 67196943 single base substitution G A synonymous_variant P115P 345G>A BRCA-US 16 67201760 67201760 deletion of <=200bp C - downstream_gene_variant BTCA-JP 16 67190088 67190088 single base substitution C T upstream_gene_variant BTCA-JP 16 67197785 67197785 single base substitution T G 3_prime_UTR_variant BTCA-JP 16 67197785 67197785 single base substitution T G downstream_gene_variant BTCA-JP 16 67197785 67197785 single base substitution T G intron_variant BTCA-JP 16 67197831 67197831 deletion of <=200bp C - 3_prime_UTR_variant BTCA-JP 16 67197831 67197831 deletion of <=200bp C - downstream_gene_variant BTCA-JP 16 67197831 67197831 deletion of <=200bp C - intron_variant BTCA-JP 16 67198873 67198873 single base substitution C T downstream_gene_variant BTCA-JP 16 67198915 67198915 single base substitution C A downstream_gene_variant BTCA-JP 16 67198986 67198986 single base substitution G A downstream_gene_variant BTCA-JP 16 67199458 67199458 single base substitution C T downstream_gene_variant BTCA-JP 16 67200413 67200413 deletion of <=200bp G - downstream_gene_variant BTCA-JP 16 67200413 67200413 insertion of <=200bp - G downstream_gene_variant BTCA-JP 16 67201006 67201006 single base substitution C A downstream_gene_variant CESC-US 16 67197223 67197223 single base substitution G C downstream_gene_variant CESC-US 16 67197223 67197223 single base substitution G C intron_variant CESC-US 16 67197223 67197223 single base substitution G C missense_variant E209Q 625G>C CESC-US 16 67200473 67200473 single base substitution C T downstream_gene_variant CESC-US 16 67200499 67200499 single base substitution G T downstream_gene_variant CESC-US 16 67201667 67201667 single base substitution G A downstream_gene_variant COAD-US 16 67189042 67189042 single base substitution C T upstream_gene_variant COAD-US 16 67189553 67189553 single base substitution G A upstream_gene_variant COAD-US 16 67190436 67190436 single base substitution C A upstream_gene_variant COAD-US 16 67197171 67197171 single base substitution G A downstream_gene_variant COAD-US 16 67197171 67197171 single base substitution G A intron_variant COAD-US 16 67197171 67197171 single base substitution G A synonymous_variant P191P 573G>A COAD-US 16 67201666 67201666 deletion of <=200bp G - downstream_gene_variant COAD-US 16 67201782 67201782 single base substitution C A downstream_gene_variant COCA-CN 16 67196020 67196020 single base substitution G A 3_prime_UTR_variant COCA-CN 16 67196020 67196020 single base substitution G A intron_variant COCA-CN 16 67199615 67199615 single base substitution T C downstream_gene_variant COCA-CN 16 67199816 67199816 single base substitution C T downstream_gene_variant COCA-CN 16 67200146 67200146 single base substitution C T downstream_gene_variant COCA-CN 16 67200181 67200181 single base substitution C T downstream_gene_variant COCA-CN 16 67200453 67200453 single base substitution C A downstream_gene_variant COCA-CN 16 67201593 67201593 single base substitution G T downstream_gene_variant COCA-CN 16 67203324 67203324 single base substitution C T downstream_gene_variant ESAD-UK 16 67189130 67189130 single base substitution G A upstream_gene_variant ESAD-UK 16 67192557 67192563 deletion of <=200bp GACATAT - upstream_gene_variant ESAD-UK 16 67195331 67195331 single base substitution C T intron_variant ESAD-UK 16 67195331 67195331 single base substitution C T upstream_gene_variant ESAD-UK 16 67196794 67196794 single base substitution G A 3_prime_UTR_variant ESAD-UK 16 67196794 67196794 single base substitution G A downstream_gene_variant ESAD-UK 16 67196794 67196794 single base substitution G A intron_variant ESAD-UK 16 67196794 67196794 single base substitution G A missense_variant A66T 196G>A ESAD-UK 16 67196983 67196983 single base substitution G A downstream_gene_variant ESAD-UK 16 67196983 67196983 single base substitution G A intron_variant ESAD-UK 16 67196983 67196983 single base substitution G A missense_variant A129T 385G>A ESAD-UK 16 67196983 67196983 single base substitution G A synonymous_variant ?129 ESAD-UK 16 67197358 67197358 single base substitution G A downstream_gene_variant ESAD-UK 16 67197358 67197358 single base substitution G A intron_variant ESAD-UK 16 67197358 67197358 single base substitution G A missense_variant V254M 760G>A ESAD-UK 16 67199494 67199494 single base substitution C G downstream_gene_variant ESAD-UK 16 67202374 67202374 deletion of <=200bp A - downstream_gene_variant ESAD-UK 16 67203102 67203102 single base substitution G T downstream_gene_variant ESCA-CN 16 67195686 67195696 deletion of <=200bp GCCATGGCCGA - 5_prime_UTR_variant ESCA-CN 16 67195686 67195696 deletion of <=200bp GCCATGGCCGA - frameshift_variant MAE1 KIRC-US 16 67190505 67190505 single base substitution T C upstream_gene_variant KIRC-US 16 67199696 67199696 single base substitution C A downstream_gene_variant KIRC-US 16 67200251 67200251 single base substitution G T downstream_gene_variant LICA-CN 16 67190536 67190536 single base substitution C A upstream_gene_variant LICA-FR 16 67189189 67189189 single base substitution C A upstream_gene_variant LICA-FR 16 67190553 67190553 single base substitution C T upstream_gene_variant LICA-FR 16 67201411 67201411 single base substitution C G downstream_gene_variant LIHC-US 16 67203201 67203201 single base substitution A G downstream_gene_variant LINC-JP 16 67189862 67189862 single base substitution T C upstream_gene_variant LINC-JP 16 67193941 67193941 single base substitution C A 5_prime_UTR_variant LINC-JP 16 67193941 67193941 single base substitution C A upstream_gene_variant LINC-JP 16 67195971 67195971 single base substitution G A 3_prime_UTR_variant LINC-JP 16 67195971 67195971 single base substitution G A intron_variant LINC-JP 16 67197258 67197258 single base substitution G A downstream_gene_variant LINC-JP 16 67197258 67197258 single base substitution G A intron_variant LINC-JP 16 67197258 67197258 single base substitution G A synonymous_variant A220A 660G>A LINC-JP 16 67203061 67203061 single base substitution T C downstream_gene_variant LINC-JP 16 67203097 67203097 single base substitution T C downstream_gene_variant LIRI-JP 16 67189900 67189900 single base substitution A T upstream_gene_variant LIRI-JP 16 67190983 67190983 single base substitution C T upstream_gene_variant LIRI-JP 16 67191982 67191982 single base substitution C T upstream_gene_variant LIRI-JP 16 67200830 67200830 single base substitution C G downstream_gene_variant LIRI-JP 16 67201592 67201592 single base substitution A G downstream_gene_variant LUSC-KR 16 67191751 67191751 single base substitution C A upstream_gene_variant LUSC-KR 16 67193771 67193771 single base substitution C A upstream_gene_variant LUSC-KR 16 67197994 67197994 single base substitution C T 3_prime_UTR_variant LUSC-KR 16 67197994 67197994 single base substitution C T downstream_gene_variant LUSC-KR 16 67197994 67197994 single base substitution C T synonymous_variant L75L 225C>T LUSC-US 16 67189189 67189189 single base substitution C T upstream_gene_variant LUSC-US 16 67199689 67199689 single base substitution G A downstream_gene_variant LUSC-US 16 67201678 67201678 single base substitution G A downstream_gene_variant MALY-DE 16 67201727 67201727 single base substitution C T downstream_gene_variant MALY-DE 16 67202040 67202040 single base substitution G T downstream_gene_variant MELA-AU 16 67188898 67188898 single base substitution G A upstream_gene_variant MELA-AU 16 67189158 67189158 single base substitution C T upstream_gene_variant MELA-AU 16 67189395 67189395 single base substitution G A upstream_gene_variant MELA-AU 16 67189568 67189568 single base substitution G A upstream_gene_variant MELA-AU 16 67189712 67189712 single base substitution G A upstream_gene_variant MELA-AU 16 67190068 67190068 single base substitution G A upstream_gene_variant MELA-AU 16 67190616 67190616 single base substitution C T upstream_gene_variant MELA-AU 16 67191056 67191056 single base substitution C T upstream_gene_variant MELA-AU 16 67191352 67191352 single base substitution G A upstream_gene_variant MELA-AU 16 67192401 67192401 single base substitution T G upstream_gene_variant MELA-AU 16 67193087 67193087 single base substitution G C upstream_gene_variant MELA-AU 16 67193548 67193548 single base substitution G A upstream_gene_variant MELA-AU 16 67193631 67193631 single base substitution G A upstream_gene_variant MELA-AU 16 67193803 67193803 single base substitution C T upstream_gene_variant MELA-AU 16 67193804 67193804 single base substitution C T upstream_gene_variant MELA-AU 16 67193851 67193851 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 16 67193851 67193851 single base substitution C T upstream_gene_variant MELA-AU 16 67194528 67194528 single base substitution C T intron_variant MELA-AU 16 67194528 67194528 single base substitution C T upstream_gene_variant MELA-AU 16 67194774 67194774 single base substitution G A intron_variant MELA-AU 16 67194774 67194774 single base substitution G A upstream_gene_variant MELA-AU 16 67194897 67194897 single base substitution G A intron_variant MELA-AU 16 67194897 67194897 single base substitution G A upstream_gene_variant MELA-AU 16 67194948 67194948 single base substitution C T intron_variant MELA-AU 16 67194948 67194948 single base substitution C T upstream_gene_variant MELA-AU 16 67195228 67195229 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 67195228 67195229 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 67195752 67195752 single base substitution C A exon_variant MELA-AU 16 67195752 67195752 single base substitution C A missense_variant L22M 64C>A MELA-AU 16 67195816 67195816 single base substitution C T exon_variant MELA-AU 16 67195816 67195816 single base substitution C T missense_variant A43V 128C>T MELA-AU 16 67195816 67195817 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 16 67195816 67195817 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A43V 128CC>TT MELA-AU 16 67196469 67196469 single base substitution C T 3_prime_UTR_variant MELA-AU 16 67196469 67196469 single base substitution C T intron_variant MELA-AU 16 67196666 67196666 single base substitution G A 3_prime_UTR_variant MELA-AU 16 67196666 67196666 single base substitution G A downstream_gene_variant MELA-AU 16 67196666 67196666 single base substitution G A intron_variant MELA-AU 16 67197186 67197186 single base substitution C T downstream_gene_variant MELA-AU 16 67197186 67197186 single base substitution C T intron_variant MELA-AU 16 67197186 67197186 single base substitution C T synonymous_variant L196L 588C>T MELA-AU 16 67197516 67197516 single base substitution C T 3_prime_UTR_variant MELA-AU 16 67197516 67197516 single base substitution C T downstream_gene_variant MELA-AU 16 67197516 67197516 single base substitution C T intron_variant MELA-AU 16 67197516 67197516 single base substitution C T synonymous_variant L306L 918C>T MELA-AU 16 67199408 67199408 single base substitution G A downstream_gene_variant MELA-AU 16 67200260 67200260 single base substitution C T downstream_gene_variant MELA-AU 16 67200311 67200311 single base substitution C T downstream_gene_variant MELA-AU 16 67200327 67200327 single base substitution C T downstream_gene_variant MELA-AU 16 67200336 67200336 single base substitution C T downstream_gene_variant MELA-AU 16 67200626 67200626 single base substitution C T downstream_gene_variant MELA-AU 16 67201832 67201832 single base substitution C T downstream_gene_variant MELA-AU 16 67202515 67202515 single base substitution C T downstream_gene_variant MELA-AU 16 67203240 67203240 single base substitution C T downstream_gene_variant MELA-AU 16 67203326 67203326 single base substitution A T downstream_gene_variant ORCA-IN 16 67198770 67198770 single base substitution C A downstream_gene_variant OV-AU 16 67190189 67190189 single base substitution C T upstream_gene_variant OV-AU 16 67194917 67194917 single base substitution G T intron_variant OV-AU 16 67194917 67194917 single base substitution G T upstream_gene_variant OV-AU 16 67202176 67202176 single base substitution A C downstream_gene_variant PACA-AU 16 67188992 67188992 single base substitution G A upstream_gene_variant PACA-AU 16 67189037 67189039 deletion of <=200bp GGC - upstream_gene_variant PACA-AU 16 67190326 67190326 single base substitution T A upstream_gene_variant PACA-AU 16 67191164 67191164 single base substitution G T upstream_gene_variant PACA-AU 16 67193388 67193388 single base substitution A C upstream_gene_variant PACA-AU 16 67194147 67194162 deletion of <=200bp GCACTCAAAACGGGGT - intron_variant PACA-AU 16 67194147 67194162 deletion of <=200bp GCACTCAAAACGGGGT - upstream_gene_variant PACA-AU 16 67195279 67195279 single base substitution G A intron_variant PACA-AU 16 67195279 67195279 single base substitution G A upstream_gene_variant PACA-AU 16 67196858 67196858 single base substitution G A downstream_gene_variant PACA-AU 16 67196858 67196858 single base substitution G A intron_variant PACA-AU 16 67196858 67196858 single base substitution G A missense_variant R87Q 260G>A PACA-CA 16 67190092 67190092 single base substitution A T upstream_gene_variant PACA-CA 16 67195207 67195207 single base substitution G A intron_variant PACA-CA 16 67195207 67195207 single base substitution G A upstream_gene_variant PACA-CA 16 67197776 67197776 insertion of <=200bp - GG 3_prime_UTR_variant PACA-CA 16 67197776 67197776 insertion of <=200bp - GG downstream_gene_variant PACA-CA 16 67197776 67197776 insertion of <=200bp - GG intron_variant PACA-CA 16 67199395 67199395 single base substitution C T downstream_gene_variant PACA-CA 16 67200094 67200094 single base substitution A G downstream_gene_variant PACA-CA 16 67200298 67200298 single base substitution G T downstream_gene_variant PACA-CA 16 67200528 67200528 single base substitution G C downstream_gene_variant PAEN-IT 16 67196348 67196348 single base substitution G T 3_prime_UTR_variant PAEN-IT 16 67196348 67196348 single base substitution G T intron_variant PAEN-IT 16 67199351 67199351 single base substitution G A downstream_gene_variant PBCA-DE 16 67191158 67191158 single base substitution C A upstream_gene_variant PBCA-DE 16 67198486 67198486 single base substitution A C downstream_gene_variant PRAD-UK 16 67191101 67191101 single base substitution G T upstream_gene_variant PRAD-US 16 67199716 67199716 single base substitution C A downstream_gene_variant PRAD-US 16 67199716 67199716 single base substitution C G downstream_gene_variant READ-US 16 67200284 67200284 single base substitution C T downstream_gene_variant SKCA-BR 16 67188938 67188938 single base substitution A C upstream_gene_variant SKCA-BR 16 67193579 67193579 single base substitution T C upstream_gene_variant SKCA-BR 16 67193823 67193823 single base substitution T G upstream_gene_variant SKCA-BR 16 67194899 67194899 single base substitution A G intron_variant SKCA-BR 16 67194899 67194899 single base substitution A G upstream_gene_variant SKCA-BR 16 67194920 67194920 single base substitution T G intron_variant SKCA-BR 16 67194920 67194920 single base substitution T G upstream_gene_variant SKCA-BR 16 67194941 67194941 single base substitution C T intron_variant SKCA-BR 16 67194941 67194941 single base substitution C T upstream_gene_variant SKCA-BR 16 67201726 67201726 single base substitution G C downstream_gene_variant SKCA-BR 16 67202593 67202593 single base substitution A G downstream_gene_variant SKCA-BR 16 67202596 67202596 single base substitution T G downstream_gene_variant SKCA-BR 16 67202603 67202603 single base substitution T G downstream_gene_variant SKCA-BR 16 67202619 67202619 single base substitution A G downstream_gene_variant SKCA-BR 16 67202651 67202651 single base substitution A G downstream_gene_variant SKCM-US 16 67197714 67197714 single base substitution C A 3_prime_UTR_variant SKCM-US 16 67197714 67197714 single base substitution C A downstream_gene_variant SKCM-US 16 67197714 67197714 single base substitution C A intron_variant SKCM-US 16 67197714 67197714 single base substitution C A synonymous_variant L372L 1116C>A SKCM-US 16 67199648 67199648 single base substitution G T downstream_gene_variant SKCM-US 16 67203243 67203243 single base substitution C T downstream_gene_variant STAD-US 16 67189149 67189149 single base substitution G A upstream_gene_variant STAD-US 16 67190446 67190448 deletion of <=200bp CCA - upstream_gene_variant STAD-US 16 67197591 67197591 single base substitution C T 3_prime_UTR_variant STAD-US 16 67197591 67197591 single base substitution C T downstream_gene_variant STAD-US 16 67197591 67197591 single base substitution C T intron_variant STAD-US 16 67197591 67197591 single base substitution C T synonymous_variant R331R 993C>T STAD-US 16 67197644 67197644 single base substitution C T 3_prime_UTR_variant STAD-US 16 67197644 67197644 single base substitution C T downstream_gene_variant STAD-US 16 67197644 67197644 single base substitution C T intron_variant STAD-US 16 67197644 67197644 single base substitution C T missense_variant A349V 1046C>T STAD-US 16 67199519 67199519 single base substitution G A downstream_gene_variant STAD-US 16 67199648 67199648 single base substitution G A downstream_gene_variant STAD-US 16 67199720 67199720 single base substitution G A downstream_gene_variant STAD-US 16 67199724 67199724 single base substitution A G downstream_gene_variant STAD-US 16 67199736 67199736 single base substitution G A downstream_gene_variant STAD-US 16 67200243 67200243 single base substitution G A downstream_gene_variant STAD-US 16 67200492 67200492 single base substitution C T downstream_gene_variant UCEC-US 16 67196917 67196917 single base substitution C T downstream_gene_variant UCEC-US 16 67196917 67196917 single base substitution C T intron_variant UCEC-US 16 67196917 67196917 single base substitution C T missense_variant R107C 319C>T UCEC-US 16 67196953 67196953 single base substitution G A downstream_gene_variant UCEC-US 16 67196953 67196953 single base substitution G A intron_variant UCEC-US 16 67196953 67196953 single base substitution G A missense_variant A119T 355G>A UCEC-US 16 67199707 67199707 single base substitution C T downstream_gene_variant UCEC-US 16 67199862 67199862 single base substitution G A downstream_gene_variant UCEC-US 16 67201026 67201026 single base substitution C A downstream_gene_variant UCEC-US 16 67201447 67201447 single base substitution G T downstream_gene_variant UCEC-US 16 67201674 67201674 single base substitution T C downstream_gene_variant UCEC-US 16 67201787 67201787 single base substitution G T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 61 COSM5740680 c.107C>T p.A36V Substitution - Missense 16:67161892-67161892 + T3091 COSM4683907 c.613C>T p.H205Y Substitution - Missense 16:67163308-67163308 + TCGA-BR-8081-01 COSM4061751 c.1046C>T p.A349V Substitution - Missense 16:67163741-67163741 + CAL33 COSM4591721 c.193T>C p.S65P Substitution - Missense 16:67162888-67162888 + TCGA-EK-A2RN-01 COSM4823090 c.625G>C p.E209Q Substitution - Missense 16:67163320-67163320 + ESCC_37 COSM5628906 c.1070A>G p.Y357C Substitution - Missense 16:67163765-67163765 + PD6684a COSM5797383 c.98G>A p.R33K Substitution - Missense 16:67161883-67161883 + LC_S39 COSM1189293 c.919G>A p.E307K Substitution - Missense 16:67163614-67163614 + ESCC_30 COSM5627628 c.361C>T p.R121C Substitution - Missense 16:67163056-67163056 + HCC25T COSM1609505 c.660G>A p.A220A Substitution - coding silent 16:67163355-67163355 + 423 COSM4432495 c.243G>A p.S81S Substitution - coding silent 16:67162938-67162938 + SCC-9 COSM4597467 c.218A>G p.N73S Substitution - Missense 16:67162913-67162913 + UM-SCC-47 COSM4591721 c.193T>C p.S65P Substitution - Missense 16:67162888-67162888 + CAL33 COSM4591225 c.196G>C p.A66P Substitution - Missense 16:67162891-67162891 + 1_PRE-TREATMENT COSM1718850 c.1090G>A p.E364K Substitution - Missense 16:67163785-67163785 + T3225 COSM4061751 c.1046C>T p.A349V Substitution - Missense 16:67163741-67163741 + TCGA-AP-A0LM-01 COSM972298 c.355G>A p.A119T Substitution - Missense 16:67163050-67163050 + ATL033 COSM3818245 c.311G>A p.R104Q Substitution - Missense 16:67163006-67163006 + TCGA-D1-A163-01 COSM972299 c.400G>A p.A134T Substitution - Missense 16:67163095-67163095 + 8057574 COSM3387532 c.260G>A p.R87Q Substitution - Missense 16:67162955-67162955 + ORL-48 COSM4591225 c.196G>C p.A66P Substitution - Missense 16:67162891-67162891 + NOKSI COSM4591721 c.193T>C p.S65P Substitution - Missense 16:67162888-67162888 + SCC-9 COSM4591225 c.196G>C p.A66P Substitution - Missense 16:67162891-67162891 + TCGA-D9-A1JW-06 COSM3510925 c.1116C>A p.L372L Substitution - coding silent 16:67163811-67163811 + 71M COSM5595799 c.83C>T p.A28V Substitution - Missense 16:67161868-67161868 + Gp2D COSM4627449 c.596A>G p.H199R Substitution - Missense 16:67163291-67163291 + WSU-HN13 COSM4591721 c.193T>C p.S65P Substitution - Missense 16:67162888-67162888 + TCGA-B5-A11E-01 COSM972297 c.319C>T p.R107C Substitution - Missense 16:67163014-67163014 + 230 COSM3730396 c.1036G>A p.A346T Substitution - Missense 16:67163731-67163731 + WSU-HN13 COSM4591225 c.196G>C p.A66P Substitution - Missense 16:67162891-67162891 + TCGA-AC-A23H-01 COSM3818245 c.311G>A p.R104Q Substitution - Missense 16:67163006-67163006 + NPC37F COSM4995674 c.220C>G p.L74V Substitution - Missense 16:67162915-67162915 + I2L-P7-Tumor-Organoid COSM5363772 c.913G>A p.A305T Substitution - Missense 16:67163608-67163608 + TCGA-BT-A3PH-01 COSM1302111 c.48C>T p.I16I Substitution - coding silent 16:67161833-67161833 + TCGA-BH-A203-01 COSM1478982 c.345G>A p.P115P Substitution - coding silent 16:67163040-67163040 + UM-SCC-2 COSM4591225 c.196G>C p.A66P Substitution - Missense 16:67162891-67162891 + ATL074 COSM5706173 c.1037C>A p.A346D Substitution - Missense 16:67163732-67163732 + TCGA-BR-6852-01 COSM4061750 c.993C>T p.R331R Substitution - coding silent 16:67163688-67163688 + TCGA-FD-A3SL-01 COSM3794977 c.981C>T p.C327C Substitution - coding silent 16:67163676-67163676 + TCGA-BT-A3PH-01 COSM1302112 c.242C>T p.S81L Substitution - Missense 16:67162937-67162937 + 93VU147T COSM4591721 c.193T>C p.S65P Substitution - Missense 16:67162888-67162888 + 19 COSM5747751 c.740G>A p.R247H Substitution - Missense 16:67163435-67163435 + NOKSI COSM4596052 c.304G>A p.G102R Substitution - Missense 16:67162999-67162999 + 2492730 COSM5728747 c.809T>C p.V270A Substitution - Missense 16:67163504-67163504 + CSCC-35-T COSM4546208 c.394G>A p.G132R Substitution - Missense 16:67163089-67163089 + 1_RESISTANT COSM1718850 c.1090G>A p.E364K Substitution - Missense 16:67163785-67163785 + 93VU147T COSM4591225 c.196G>C p.A66P Substitution - Missense 16:67162891-67162891 + I2L-P7-Tumor-Organoid COSM5363617 c.1086G>A p.T362T Substitution - coding silent 16:67163781-67163781 + UM-SCC-17B COSM4591225 c.196G>C p.A66P Substitution - Missense 16:67162891-67162891 + HCC25 COSM1609505 c.660G>A p.A220A Substitution - coding silent 16:67163355-67163355 + WSU-HN12 COSM4591721 c.193T>C p.S65P Substitution - Missense 16:67162888-67162888 + TCGA-G4-6628-01 COSM1378840 c.573G>A p.P191P Substitution - coding silent 16:67163268-67163268 + UM-SCC-2 COSM4591721 c.193T>C p.S65P Substitution - Missense 16:67162888-67162888 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.710695;Hs.710696;Hs.710697;Hs.710701;Hs.710704;Hs.710709;Hs.710710;Hs.710711;Hs.710712;Hs.710714 16q22.1 609077

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C T Missense p.S81L c.242C>T 16 67196840 BLCA C T Synonymous p.I16I c.48C>T 16 67195736 BLCA G A Synonymous p.P115P c.345G>A 16 67196943 BRCA