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 22 39083955 39083955 + Silent SNP C C T TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr22:39083955C>T c.561G>A c.(559-561)gtG>gtA p.V187V BLCA 22 39095872 39095872 + Missense_Mutation SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr22:39095872G>T c.121C>A c.(121-123)Ctc>Atc p.L41I BRCA 22 39085345 39085345 + Silent SNP T T G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr22:39085345T>G c.270A>C c.(268-270)gcA>gcC p.A90A CESC 22 39085337 39085337 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 g.chr22:39085337G>T c.278C>A c.(277-279)aCc>aAc p.T93N CHOL 22 39085046 39085046 + Missense_Mutation SNP G G T TCGA-ZH-A8Y2-01A-11D-A417-09 TCGA-ZH-A8Y2-10A-01D-A41A-09 g.chr22:39085046G>T c.403C>A c.(403-405)Ctc>Atc p.L135I COAD 22 39083943 39083943 + Missense_Mutation SNP C C A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr22:39083943C>A c.573G>T c.(571-573)gaG>gaT p.E191D COAD 22 39085106 39085106 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr22:39085106C>T c.343G>A c.(343-345)Gtc>Atc p.V115I COAD 22 39085123 39085123 + Missense_Mutation SNP A A G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr22:39085123A>G c.326T>C c.(325-327)gTc>gCc p.V109A COAD 22 39085310 39085310 + Missense_Mutation SNP T T C TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr22:39085310T>C c.305A>G c.(304-306)gAc>gGc p.D102G COAD 22 39085310 39085310 + Missense_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr22:39085310T>C c.305A>G c.(304-306)gAc>gGc p.D102G COADREAD 22 39083943 39083943 + Missense_Mutation SNP C C A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr22:39083943C>A c.573G>T c.(571-573)gaG>gaT p.E191D COADREAD 22 39085106 39085106 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr22:39085106C>T c.343G>A c.(343-345)Gtc>Atc p.V115I COADREAD 22 39085123 39085123 + Missense_Mutation SNP A A G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr22:39085123A>G c.326T>C c.(325-327)gTc>gCc p.V109A COADREAD 22 39085310 39085310 + Missense_Mutation SNP T T C TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr22:39085310T>C c.305A>G c.(304-306)gAc>gGc p.D102G COADREAD 22 39085310 39085310 + Missense_Mutation SNP T T C TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr22:39085310T>C c.305A>G c.(304-306)gAc>gGc p.D102G HNSC 22 39085050 39085050 + Silent SNP C C T TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr22:39085050C>T c.399G>A c.(397-399)ctG>ctA p.L133L LUSC 22 39085044 39085044 + Silent SNP G G C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 g.chr22:39085044G>C c.405C>G c.(403-405)ctC>ctG p.L135L OV 22 39095977 39095977 + Frame_Shift_Del DEL A A - TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 g.chr22:39095977delA c.16delT c.(16-18)tggfs p.W6fs PAAD 22 39084975 39084975 + Missense_Mutation SNP C C A TCGA-FB-AAPU-01A-31D-A40W-08 TCGA-FB-AAPU-11A-12D-A40W-08 g.chr22:39084975C>A c.474G>T c.(472-474)aaG>aaT p.K158N PCPG 22 39085109 39085109 + Missense_Mutation SNP T T C TCGA-QR-A70K-01A-12D-A35D-08 TCGA-QR-A70K-10A-01D-A35B-08 g.chr22:39085109T>C c.340A>G c.(340-342)Aac>Gac p.N114D PRAD 22 39084972 39084972 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr22:39084972C>T c.477G>A c.(475-477)atG>atA p.M159I PRAD 22 39085305 39085305 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr22:39085305G>A c.310C>T c.(310-312)Cgc>Tgc p.R104C SARC 22 39085422 39085422 + Missense_Mutation SNP G G A TCGA-DX-A6BA-01A-11D-A307-09 TCGA-DX-A6BA-10A-01D-A307-09 g.chr22:39085422G>A c.193C>T c.(193-195)Cca>Tca p.P65S

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 22 39095872 39095872 single base substitution G T downstream_gene_variant BLCA-US 22 39095872 39095872 single base substitution G T missense_variant L35I 103C>A BLCA-US 22 39095872 39095872 single base substitution G T missense_variant L41I 121C>A BRCA-EU 22 39077913 39077913 single base substitution C T downstream_gene_variant BRCA-EU 22 39078456 39078456 single base substitution G A downstream_gene_variant BRCA-EU 22 39079618 39079618 single base substitution A C downstream_gene_variant BRCA-EU 22 39079771 39079771 single base substitution G C downstream_gene_variant BRCA-EU 22 39081310 39081310 single base substitution C G downstream_gene_variant BRCA-EU 22 39083777 39083777 single base substitution C G 3_prime_UTR_variant BRCA-EU 22 39083777 39083777 single base substitution C G downstream_gene_variant BRCA-EU 22 39083881 39083881 single base substitution G A 3_prime_UTR_variant BRCA-EU 22 39083881 39083881 single base substitution G A downstream_gene_variant BRCA-EU 22 39083928 39083928 single base substitution C G downstream_gene_variant BRCA-EU 22 39083928 39083928 single base substitution C G missense_variant Q147H 441G>C BRCA-EU 22 39083928 39083928 single base substitution C G missense_variant Q196H 588G>C BRCA-EU 22 39084245 39084245 single base substitution G A downstream_gene_variant BRCA-EU 22 39084245 39084245 single base substitution G A intron_variant BRCA-EU 22 39085363 39085363 single base substitution C T intron_variant BRCA-EU 22 39085363 39085363 single base substitution C T synonymous_variant V84V 252G>A BRCA-EU 22 39085363 39085363 single base substitution C T upstream_gene_variant BRCA-EU 22 39085806 39085806 single base substitution A G intron_variant BRCA-EU 22 39085806 39085806 single base substitution A G upstream_gene_variant BRCA-EU 22 39086901 39086901 single base substitution C T intron_variant BRCA-EU 22 39086901 39086901 single base substitution C T upstream_gene_variant BRCA-EU 22 39089634 39089634 single base substitution G C intron_variant BRCA-EU 22 39089634 39089634 single base substitution G C upstream_gene_variant BRCA-EU 22 39090916 39090916 single base substitution T A downstream_gene_variant BRCA-EU 22 39090916 39090916 single base substitution T A intron_variant BRCA-EU 22 39091172 39091172 single base substitution T C downstream_gene_variant BRCA-EU 22 39091172 39091172 single base substitution T C intron_variant BRCA-EU 22 39092247 39092247 single base substitution T C downstream_gene_variant BRCA-EU 22 39092247 39092247 single base substitution T C intron_variant BRCA-EU 22 39092306 39092306 single base substitution G C downstream_gene_variant BRCA-EU 22 39092306 39092306 single base substitution G C intron_variant BRCA-EU 22 39094480 39094480 single base substitution G C downstream_gene_variant BRCA-EU 22 39094480 39094480 single base substitution G C intron_variant BRCA-EU 22 39096680 39096680 single base substitution G A intron_variant BRCA-EU 22 39096680 39096680 single base substitution G A upstream_gene_variant BRCA-EU 22 39097557 39097557 single base substitution C G 5_prime_UTR_variant BRCA-EU 22 39097557 39097557 single base substitution C G upstream_gene_variant BRCA-EU 22 39097988 39097988 single base substitution C G upstream_gene_variant BRCA-EU 22 39098386 39098386 single base substitution C T upstream_gene_variant BRCA-EU 22 39098945 39098945 single base substitution G T upstream_gene_variant BRCA-EU 22 39101185 39101185 single base substitution T C upstream_gene_variant BRCA-EU 22 39101584 39101584 single base substitution T C upstream_gene_variant BRCA-EU 22 39101796 39101796 single base substitution G C upstream_gene_variant BRCA-EU 22 39101826 39101826 single base substitution C G upstream_gene_variant BRCA-FR 22 39077810 39077810 single base substitution G A downstream_gene_variant BRCA-FR 22 39089634 39089634 single base substitution G C intron_variant BRCA-FR 22 39089634 39089634 single base substitution G C upstream_gene_variant BRCA-FR 22 39096892 39096892 single base substitution G T 5_prime_UTR_variant BRCA-FR 22 39096892 39096892 single base substitution G T exon_variant BRCA-FR 22 39096892 39096892 single base substitution G T intron_variant BRCA-FR 22 39096892 39096892 single base substitution G T upstream_gene_variant BRCA-US 22 39077991 39077991 single base substitution C G downstream_gene_variant BRCA-US 22 39079782 39079782 single base substitution G A downstream_gene_variant BRCA-US 22 39085345 39085345 single base substitution T G intron_variant BRCA-US 22 39085345 39085345 single base substitution T G synonymous_variant A90A 270A>C BRCA-US 22 39085345 39085345 single base substitution T G upstream_gene_variant BTCA-JP 22 39083892 39083892 single base substitution G T 3_prime_UTR_variant BTCA-JP 22 39083892 39083892 single base substitution G T downstream_gene_variant BTCA-JP 22 39084824 39084824 single base substitution G A downstream_gene_variant BTCA-JP 22 39084824 39084824 single base substitution G A intron_variant CESC-US 22 39078412 39078412 single base substitution G C downstream_gene_variant CESC-US 22 39085337 39085337 single base substitution G T intron_variant CESC-US 22 39085337 39085337 single base substitution G T missense_variant T93N 278C>A CESC-US 22 39085337 39085337 single base substitution G T upstream_gene_variant CESC-US 22 39101980 39101980 single base substitution G A upstream_gene_variant CLLE-ES 22 39078799 39078799 single base substitution A T downstream_gene_variant CLLE-ES 22 39091895 39091895 single base substitution T C downstream_gene_variant CLLE-ES 22 39091895 39091895 single base substitution T C intron_variant COAD-US 22 39078338 39078338 single base substitution C T downstream_gene_variant COAD-US 22 39078362 39078362 single base substitution T C downstream_gene_variant COAD-US 22 39078403 39078403 single base substitution G A downstream_gene_variant COAD-US 22 39085106 39085106 single base substitution C T downstream_gene_variant COAD-US 22 39085106 39085106 single base substitution C T exon_variant COAD-US 22 39085106 39085106 single base substitution C T missense_variant V115I 343G>A COAD-US 22 39085106 39085106 single base substitution C T missense_variant V66I 196G>A COCA-CN 22 39078955 39078955 single base substitution C T downstream_gene_variant COCA-CN 22 39079840 39079840 single base substitution G T downstream_gene_variant COCA-CN 22 39079964 39079964 single base substitution T C downstream_gene_variant EOPC-DE 22 39098397 39098397 single base substitution C T upstream_gene_variant ESAD-UK 22 39077943 39077943 single base substitution C T downstream_gene_variant ESAD-UK 22 39078719 39078719 single base substitution T G downstream_gene_variant ESAD-UK 22 39080012 39080012 single base substitution C T downstream_gene_variant ESAD-UK 22 39082208 39082208 single base substitution G C 3_prime_UTR_variant ESAD-UK 22 39082208 39082208 single base substitution G C downstream_gene_variant ESAD-UK 22 39087778 39087778 single base substitution C G intron_variant ESAD-UK 22 39087778 39087778 single base substitution C G upstream_gene_variant ESAD-UK 22 39097284 39097284 single base substitution C T 5_prime_UTR_variant ESAD-UK 22 39097284 39097284 single base substitution C T exon_variant ESAD-UK 22 39097284 39097284 single base substitution C T upstream_gene_variant ESAD-UK 22 39097649 39097649 single base substitution C T upstream_gene_variant ESAD-UK 22 39098829 39098829 single base substitution C A upstream_gene_variant ESAD-UK 22 39099720 39099720 single base substitution C T upstream_gene_variant ESAD-UK 22 39100286 39100286 single base substitution T G upstream_gene_variant ESAD-UK 22 39100543 39100543 single base substitution T A upstream_gene_variant LICA-FR 22 39092105 39092105 single base substitution G C downstream_gene_variant LICA-FR 22 39092105 39092105 single base substitution G C intron_variant LINC-JP 22 39077854 39077854 single base substitution C A downstream_gene_variant LINC-JP 22 39079921 39079921 deletion of <=200bp T - downstream_gene_variant LINC-JP 22 39085392 39085392 single base substitution T G intron_variant LINC-JP 22 39085392 39085392 single base substitution T G missense_variant S75R 223A>C LINC-JP 22 39085392 39085392 single base substitution T G upstream_gene_variant LINC-JP 22 39090732 39090732 single base substitution T C intron_variant LIRI-JP 22 39080829 39080829 single base substitution C G downstream_gene_variant LIRI-JP 22 39081062 39081062 single base substitution A G downstream_gene_variant LIRI-JP 22 39081944 39081944 single base substitution T C 3_prime_UTR_variant LIRI-JP 22 39081944 39081944 single base substitution T C downstream_gene_variant LIRI-JP 22 39082828 39082828 single base substitution T A 3_prime_UTR_variant LIRI-JP 22 39082828 39082828 single base substitution T A downstream_gene_variant LIRI-JP 22 39084004 39084004 single base substitution T G downstream_gene_variant LIRI-JP 22 39084004 39084004 single base substitution T G missense_variant K122T 365A>C LIRI-JP 22 39084004 39084004 single base substitution T G missense_variant K171T 512A>C LIRI-JP 22 39084004 39084004 single base substitution T G splice_region_variant LIRI-JP 22 39085200 39085200 single base substitution C A downstream_gene_variant LIRI-JP 22 39085200 39085200 single base substitution C A exon_variant LIRI-JP 22 39085200 39085200 single base substitution C A intron_variant LIRI-JP 22 39089278 39089278 single base substitution C T intron_variant LIRI-JP 22 39089278 39089278 single base substitution C T upstream_gene_variant LIRI-JP 22 39090495 39090495 single base substitution T A intron_variant LIRI-JP 22 39090806 39090806 single base substitution G T downstream_gene_variant LIRI-JP 22 39090806 39090806 single base substitution G T intron_variant LIRI-JP 22 39090807 39090807 single base substitution C T downstream_gene_variant LIRI-JP 22 39090807 39090807 single base substitution C T intron_variant LIRI-JP 22 39094055 39094055 single base substitution T C downstream_gene_variant LIRI-JP 22 39094055 39094055 single base substitution T C intron_variant LIRI-JP 22 39094431 39094431 single base substitution A T downstream_gene_variant LIRI-JP 22 39094431 39094431 single base substitution A T intron_variant LIRI-JP 22 39095525 39095525 single base substitution T C downstream_gene_variant LIRI-JP 22 39095525 39095525 single base substitution T C intron_variant LIRI-JP 22 39100071 39100071 single base substitution G A upstream_gene_variant LUSC-KR 22 39078053 39078053 single base substitution G C downstream_gene_variant LUSC-KR 22 39079671 39079671 single base substitution G A downstream_gene_variant LUSC-KR 22 39080164 39080164 single base substitution C A downstream_gene_variant LUSC-KR 22 39080421 39080421 single base substitution G A downstream_gene_variant LUSC-KR 22 39080797 39080797 single base substitution A G downstream_gene_variant LUSC-KR 22 39082487 39082487 single base substitution T G 3_prime_UTR_variant LUSC-KR 22 39082487 39082487 single base substitution T G downstream_gene_variant LUSC-KR 22 39093670 39093670 single base substitution C T downstream_gene_variant LUSC-KR 22 39093670 39093670 single base substitution C T intron_variant LUSC-KR 22 39094131 39094131 single base substitution C G downstream_gene_variant LUSC-KR 22 39094131 39094131 single base substitution C G intron_variant LUSC-KR 22 39094187 39094187 single base substitution C T downstream_gene_variant LUSC-KR 22 39094187 39094187 single base substitution C T intron_variant LUSC-KR 22 39094195 39094195 single base substitution C T downstream_gene_variant LUSC-KR 22 39094195 39094195 single base substitution C T intron_variant LUSC-KR 22 39094591 39094591 single base substitution C T downstream_gene_variant LUSC-KR 22 39094591 39094591 single base substitution C T intron_variant LUSC-KR 22 39094852 39094852 single base substitution C T downstream_gene_variant LUSC-KR 22 39094852 39094852 single base substitution C T intron_variant LUSC-KR 22 39095821 39095821 single base substitution C G downstream_gene_variant LUSC-KR 22 39095821 39095821 single base substitution C G missense_variant E52Q 154G>C LUSC-KR 22 39095821 39095821 single base substitution C G missense_variant E58Q 172G>C LUSC-KR 22 39095893 39095893 single base substitution C T downstream_gene_variant LUSC-KR 22 39095893 39095893 single base substitution C T missense_variant E28K 82G>A LUSC-KR 22 39095893 39095893 single base substitution C T missense_variant E34K 100G>A LUSC-KR 22 39096397 39096397 single base substitution C T 5_prime_UTR_variant LUSC-KR 22 39096397 39096397 single base substitution C T exon_variant LUSC-KR 22 39096397 39096397 single base substitution C T intron_variant LUSC-KR 22 39096397 39096397 single base substitution C T upstream_gene_variant LUSC-KR 22 39096403 39096403 single base substitution C T 5_prime_UTR_variant LUSC-KR 22 39096403 39096403 single base substitution C T exon_variant LUSC-KR 22 39096403 39096403 single base substitution C T intron_variant LUSC-KR 22 39096403 39096403 single base substitution C T upstream_gene_variant LUSC-KR 22 39096522 39096522 single base substitution C A 5_prime_UTR_variant LUSC-KR 22 39096522 39096522 single base substitution C A exon_variant LUSC-KR 22 39096522 39096522 single base substitution C A intron_variant LUSC-KR 22 39096522 39096522 single base substitution C A upstream_gene_variant LUSC-KR 22 39096555 39096555 single base substitution C T 5_prime_UTR_variant LUSC-KR 22 39096555 39096555 single base substitution C T exon_variant LUSC-KR 22 39096555 39096555 single base substitution C T intron_variant LUSC-KR 22 39096555 39096555 single base substitution C T upstream_gene_variant LUSC-KR 22 39096691 39096691 single base substitution C T intron_variant LUSC-KR 22 39096691 39096691 single base substitution C T upstream_gene_variant LUSC-KR 22 39097685 39097685 single base substitution C A upstream_gene_variant LUSC-KR 22 39099130 39099130 single base substitution G T upstream_gene_variant LUSC-KR 22 39099236 39099236 single base substitution C T upstream_gene_variant LUSC-KR 22 39101741 39101741 single base substitution C G upstream_gene_variant LUSC-US 22 39078929 39078929 single base substitution C G downstream_gene_variant LUSC-US 22 39085044 39085044 single base substitution G C downstream_gene_variant LUSC-US 22 39085044 39085044 single base substitution G C exon_variant LUSC-US 22 39085044 39085044 single base substitution G C synonymous_variant L135L 405C>G LUSC-US 22 39085044 39085044 single base substitution G C synonymous_variant L86L 258C>G MALY-DE 22 39078308 39078308 single base substitution C G downstream_gene_variant MALY-DE 22 39085044 39085044 single base substitution G C downstream_gene_variant MALY-DE 22 39085044 39085044 single base substitution G C exon_variant MALY-DE 22 39085044 39085044 single base substitution G C synonymous_variant L135L 405C>G MALY-DE 22 39085044 39085044 single base substitution G C synonymous_variant L86L 258C>G MALY-DE 22 39094864 39094864 single base substitution C T downstream_gene_variant MALY-DE 22 39094864 39094864 single base substitution C T intron_variant MALY-DE 22 39097685 39097685 single base substitution C A upstream_gene_variant MALY-DE 22 39101862 39101862 single base substitution T G upstream_gene_variant MELA-AU 22 39076753 39076754 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 39076759 39076759 single base substitution G A downstream_gene_variant MELA-AU 22 39076873 39076873 single base substitution A G downstream_gene_variant MELA-AU 22 39077881 39077881 single base substitution G A downstream_gene_variant MELA-AU 22 39077920 39077920 single base substitution A G downstream_gene_variant MELA-AU 22 39077920 39077920 single base substitution A T downstream_gene_variant MELA-AU 22 39077956 39077956 single base substitution C T downstream_gene_variant MELA-AU 22 39077960 39077960 single base substitution C T downstream_gene_variant MELA-AU 22 39077961 39077961 single base substitution C T downstream_gene_variant MELA-AU 22 39077966 39077966 single base substitution C T downstream_gene_variant MELA-AU 22 39077998 39077998 single base substitution C T downstream_gene_variant MELA-AU 22 39078642 39078642 single base substitution A G downstream_gene_variant MELA-AU 22 39078790 39078790 single base substitution G A downstream_gene_variant MELA-AU 22 39079323 39079323 single base substitution C T downstream_gene_variant MELA-AU 22 39080304 39080304 single base substitution A C downstream_gene_variant MELA-AU 22 39080304 39080304 single base substitution A T downstream_gene_variant MELA-AU 22 39082306 39082306 single base substitution G A 3_prime_UTR_variant MELA-AU 22 39082306 39082306 single base substitution G A downstream_gene_variant MELA-AU 22 39083095 39083095 single base substitution C T 3_prime_UTR_variant MELA-AU 22 39083095 39083095 single base substitution C T downstream_gene_variant MELA-AU 22 39083793 39083793 single base substitution G A 3_prime_UTR_variant MELA-AU 22 39083793 39083793 single base substitution G A downstream_gene_variant MELA-AU 22 39084140 39084140 single base substitution G A downstream_gene_variant MELA-AU 22 39084140 39084140 single base substitution G A intron_variant MELA-AU 22 39084727 39084727 single base substitution G A downstream_gene_variant MELA-AU 22 39084727 39084727 single base substitution G A intron_variant MELA-AU 22 39084796 39084796 single base substitution G C downstream_gene_variant MELA-AU 22 39084796 39084796 single base substitution G C intron_variant MELA-AU 22 39085064 39085064 single base substitution C T downstream_gene_variant MELA-AU 22 39085064 39085064 single base substitution C T exon_variant MELA-AU 22 39085064 39085064 single base substitution C T missense_variant G129S 385G>A MELA-AU 22 39085064 39085064 single base substitution C T missense_variant G80S 238G>A MELA-AU 22 39085382 39085382 single base substitution C A intron_variant MELA-AU 22 39085382 39085382 single base substitution C A missense_variant G78V 233G>T MELA-AU 22 39085382 39085382 single base substitution C A upstream_gene_variant MELA-AU 22 39086283 39086283 single base substitution A T intron_variant MELA-AU 22 39086283 39086283 single base substitution A T upstream_gene_variant MELA-AU 22 39086446 39086446 single base substitution C T intron_variant MELA-AU 22 39086446 39086446 single base substitution C T upstream_gene_variant MELA-AU 22 39086530 39086530 single base substitution C T intron_variant MELA-AU 22 39086530 39086530 single base substitution C T upstream_gene_variant MELA-AU 22 39087162 39087162 single base substitution G A intron_variant MELA-AU 22 39087162 39087162 single base substitution G A upstream_gene_variant MELA-AU 22 39088128 39088128 single base substitution T G intron_variant MELA-AU 22 39088128 39088128 single base substitution T G upstream_gene_variant MELA-AU 22 39088781 39088781 deletion of <=200bp T - intron_variant MELA-AU 22 39088781 39088781 deletion of <=200bp T - upstream_gene_variant MELA-AU 22 39088805 39088805 single base substitution A T intron_variant MELA-AU 22 39088805 39088805 single base substitution A T upstream_gene_variant MELA-AU 22 39089026 39089026 single base substitution G A intron_variant MELA-AU 22 39089026 39089026 single base substitution G A upstream_gene_variant MELA-AU 22 39089053 39089053 single base substitution G A intron_variant MELA-AU 22 39089053 39089053 single base substitution G A upstream_gene_variant MELA-AU 22 39089168 39089168 single base substitution G A intron_variant MELA-AU 22 39089168 39089168 single base substitution G A upstream_gene_variant MELA-AU 22 39089816 39089816 single base substitution G A intron_variant MELA-AU 22 39089816 39089816 single base substitution G A upstream_gene_variant MELA-AU 22 39090549 39090549 single base substitution G A intron_variant MELA-AU 22 39091052 39091052 single base substitution C T downstream_gene_variant MELA-AU 22 39091052 39091052 single base substitution C T intron_variant MELA-AU 22 39091401 39091401 single base substitution A T downstream_gene_variant MELA-AU 22 39091401 39091401 single base substitution A T intron_variant MELA-AU 22 39092269 39092269 single base substitution G A downstream_gene_variant MELA-AU 22 39092269 39092269 single base substitution G A intron_variant MELA-AU 22 39094185 39094185 single base substitution G A downstream_gene_variant MELA-AU 22 39094185 39094185 single base substitution G A intron_variant MELA-AU 22 39095303 39095303 single base substitution G A downstream_gene_variant MELA-AU 22 39095303 39095303 single base substitution G A intron_variant MELA-AU 22 39095572 39095572 single base substitution G A downstream_gene_variant MELA-AU 22 39095572 39095572 single base substitution G A intron_variant MELA-AU 22 39095574 39095574 single base substitution G A downstream_gene_variant MELA-AU 22 39095574 39095574 single base substitution G A intron_variant MELA-AU 22 39097304 39097304 single base substitution C T 5_prime_UTR_variant MELA-AU 22 39097304 39097304 single base substitution C T exon_variant MELA-AU 22 39097304 39097304 single base substitution C T upstream_gene_variant MELA-AU 22 39098089 39098089 single base substitution T C upstream_gene_variant MELA-AU 22 39098516 39098516 single base substitution C T upstream_gene_variant MELA-AU 22 39099233 39099233 single base substitution C T upstream_gene_variant MELA-AU 22 39100951 39100951 single base substitution C T upstream_gene_variant MELA-AU 22 39101104 39101104 single base substitution C T upstream_gene_variant MELA-AU 22 39101628 39101628 single base substitution C T upstream_gene_variant MELA-AU 22 39101652 39101652 single base substitution C T upstream_gene_variant MELA-AU 22 39101890 39101890 single base substitution C T upstream_gene_variant MELA-AU 22 39102551 39102551 single base substitution C T upstream_gene_variant ORCA-IN 22 39080379 39080379 single base substitution C A downstream_gene_variant ORCA-IN 22 39085369 39085369 single base substitution G A intron_variant ORCA-IN 22 39085369 39085369 single base substitution G A synonymous_variant Y82Y 246C>T ORCA-IN 22 39085369 39085369 single base substitution G A upstream_gene_variant ORCA-IN 22 39095915 39095915 single base substitution G A downstream_gene_variant ORCA-IN 22 39095915 39095915 single base substitution G A synonymous_variant I20I 60C>T ORCA-IN 22 39095915 39095915 single base substitution G A synonymous_variant I26I 78C>T OV-AU 22 39077350 39077350 single base substitution A G downstream_gene_variant OV-AU 22 39084955 39084955 single base substitution C A downstream_gene_variant OV-AU 22 39084955 39084955 single base substitution C A exon_variant OV-AU 22 39084955 39084955 single base substitution C A missense_variant G116V 347G>T OV-AU 22 39084955 39084955 single base substitution C A missense_variant G165V 494G>T OV-AU 22 39085415 39085415 single base substitution G C intron_variant OV-AU 22 39085415 39085415 single base substitution G C missense_variant T67S 200C>G OV-AU 22 39085415 39085415 single base substitution G C upstream_gene_variant OV-AU 22 39099947 39099947 single base substitution G A upstream_gene_variant OV-AU 22 39101897 39101897 single base substitution T C upstream_gene_variant PACA-AU 22 39076871 39076871 single base substitution G A downstream_gene_variant PACA-AU 22 39078625 39078625 single base substitution T G downstream_gene_variant PACA-AU 22 39087038 39087038 single base substitution G A intron_variant PACA-AU 22 39087038 39087038 single base substitution G A upstream_gene_variant PACA-AU 22 39087999 39087999 single base substitution T C intron_variant PACA-AU 22 39087999 39087999 single base substitution T C upstream_gene_variant PACA-AU 22 39088167 39088167 single base substitution C A intron_variant PACA-AU 22 39088167 39088167 single base substitution C A upstream_gene_variant PACA-AU 22 39089048 39089048 single base substitution T G intron_variant PACA-AU 22 39089048 39089048 single base substitution T G upstream_gene_variant PACA-AU 22 39090924 39090924 single base substitution C T downstream_gene_variant PACA-AU 22 39090924 39090924 single base substitution C T intron_variant PACA-AU 22 39097337 39097337 single base substitution C T 5_prime_UTR_variant PACA-AU 22 39097337 39097337 single base substitution C T exon_variant PACA-AU 22 39097337 39097337 single base substitution C T upstream_gene_variant PACA-AU 22 39099129 39099129 single base substitution C T upstream_gene_variant PACA-CA 22 39077829 39077829 single base substitution A G downstream_gene_variant PACA-CA 22 39080283 39080283 single base substitution C T downstream_gene_variant PACA-CA 22 39081685 39081685 single base substitution G A 3_prime_UTR_variant PACA-CA 22 39081685 39081685 single base substitution G A downstream_gene_variant PACA-CA 22 39084514 39084514 single base substitution C T downstream_gene_variant PACA-CA 22 39084514 39084514 single base substitution C T intron_variant PACA-CA 22 39084632 39084632 single base substitution C G downstream_gene_variant PACA-CA 22 39084632 39084632 single base substitution C G intron_variant PACA-CA 22 39084953 39084953 single base substitution C A downstream_gene_variant PACA-CA 22 39084953 39084953 single base substitution C A exon_variant PACA-CA 22 39084953 39084953 single base substitution C A stop_gained E117* 349G>T PACA-CA 22 39084953 39084953 single base substitution C A stop_gained E166* 496G>T PACA-CA 22 39086169 39086169 single base substitution G T intron_variant PACA-CA 22 39086169 39086169 single base substitution G T upstream_gene_variant PACA-CA 22 39086447 39086447 single base substitution G A intron_variant PACA-CA 22 39086447 39086447 single base substitution G A upstream_gene_variant PACA-CA 22 39092414 39092414 insertion of <=200bp - T downstream_gene_variant PACA-CA 22 39092414 39092414 insertion of <=200bp - T intron_variant PACA-CA 22 39093398 39093398 single base substitution T G downstream_gene_variant PACA-CA 22 39093398 39093398 single base substitution T G intron_variant PACA-CA 22 39098051 39098051 single base substitution G A upstream_gene_variant PACA-CA 22 39099603 39099603 insertion of <=200bp - T upstream_gene_variant PACA-CA 22 39101474 39101474 single base substitution G A upstream_gene_variant PAEN-AU 22 39097310 39097310 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PAEN-AU 22 39097310 39097310 single base substitution G A exon_variant PAEN-AU 22 39097310 39097310 single base substitution G A upstream_gene_variant PAEN-IT 22 39088221 39088221 single base substitution T C intron_variant PAEN-IT 22 39088221 39088221 single base substitution T C upstream_gene_variant PAEN-IT 22 39091642 39091642 single base substitution G A downstream_gene_variant PAEN-IT 22 39091642 39091642 single base substitution G A intron_variant PBCA-DE 22 39077816 39077816 single base substitution C T downstream_gene_variant PBCA-DE 22 39095203 39095203 single base substitution C A downstream_gene_variant PBCA-DE 22 39095203 39095203 single base substitution C A intron_variant PRAD-CA 22 39079993 39079993 single base substitution C G downstream_gene_variant PRAD-UK 22 39094939 39094939 single base substitution T C downstream_gene_variant PRAD-UK 22 39094939 39094939 single base substitution T C intron_variant PRAD-UK 22 39101554 39101565 multiple base substitution (>=2bp and <=200bp) AAGGGGCGTTGA AACAAGG upstream_gene_variant RECA-EU 22 39089476 39089476 single base substitution T G intron_variant RECA-EU 22 39089476 39089476 single base substitution T G upstream_gene_variant RECA-EU 22 39095160 39095160 single base substitution G A downstream_gene_variant RECA-EU 22 39095160 39095160 single base substitution G A intron_variant RECA-EU 22 39095198 39095198 single base substitution C A downstream_gene_variant RECA-EU 22 39095198 39095198 single base substitution C A intron_variant SKCA-BR 22 39076849 39076849 insertion of <=200bp - ATG downstream_gene_variant SKCA-BR 22 39077941 39077941 single base substitution G A downstream_gene_variant SKCA-BR 22 39077955 39077955 single base substitution C T downstream_gene_variant SKCA-BR 22 39077956 39077956 single base substitution C T downstream_gene_variant SKCA-BR 22 39079148 39079148 insertion of <=200bp - GGGGC downstream_gene_variant SKCA-BR 22 39080233 39080233 single base substitution A G downstream_gene_variant SKCA-BR 22 39084363 39084363 single base substitution G A downstream_gene_variant SKCA-BR 22 39084363 39084363 single base substitution G A intron_variant SKCA-BR 22 39087396 39087396 single base substitution T A intron_variant SKCA-BR 22 39087396 39087396 single base substitution T A upstream_gene_variant SKCA-BR 22 39088383 39088383 single base substitution A G intron_variant SKCA-BR 22 39088383 39088383 single base substitution A G upstream_gene_variant SKCA-BR 22 39090868 39090870 deletion of <=200bp CAA - downstream_gene_variant SKCA-BR 22 39090868 39090870 deletion of <=200bp CAA - intron_variant SKCA-BR 22 39096293 39096293 single base substitution T C 5_prime_UTR_variant SKCA-BR 22 39096293 39096293 single base substitution T C exon_variant SKCA-BR 22 39096293 39096293 single base substitution T C intron_variant SKCA-BR 22 39096293 39096293 single base substitution T C upstream_gene_variant SKCA-BR 22 39096309 39096309 single base substitution T C 5_prime_UTR_variant SKCA-BR 22 39096309 39096309 single base substitution T C exon_variant SKCA-BR 22 39096309 39096309 single base substitution T C intron_variant SKCA-BR 22 39096309 39096309 single base substitution T C upstream_gene_variant SKCA-BR 22 39098743 39098743 single base substitution A G upstream_gene_variant SKCA-BR 22 39100239 39100239 single base substitution T C upstream_gene_variant SKCA-BR 22 39100288 39100299 deletion of <=200bp TTTGTTTTTTTG - upstream_gene_variant SKCA-BR 22 39100289 39100299 deletion of <=200bp TTGTTTTTTTG - upstream_gene_variant SKCA-BR 22 39100299 39100299 single base substitution G T upstream_gene_variant SKCM-US 22 39078065 39078065 single base substitution C T downstream_gene_variant SKCM-US 22 39078419 39078419 single base substitution C T downstream_gene_variant SKCM-US 22 39078936 39078936 single base substitution C T downstream_gene_variant STAD-US 22 39085018 39085018 single base substitution C T downstream_gene_variant STAD-US 22 39085018 39085018 single base substitution C T exon_variant STAD-US 22 39085018 39085018 single base substitution C T missense_variant R144Q 431G>A STAD-US 22 39085018 39085018 single base substitution C T missense_variant R95Q 284G>A STAD-US 22 39095946 39095946 insertion of <=200bp - A downstream_gene_variant STAD-US 22 39095946 39095946 insertion of <=200bp - A frameshift_variant L10F? STAD-US 22 39095946 39095946 insertion of <=200bp - A frameshift_variant L16F? UCEC-US 22 39078435 39078435 single base substitution G T downstream_gene_variant UCEC-US 22 39085019 39085019 single base substitution G A downstream_gene_variant UCEC-US 22 39085019 39085019 single base substitution G A exon_variant UCEC-US 22 39085019 39085019 single base substitution G A stop_gained R144* 430C>T UCEC-US 22 39085019 39085019 single base substitution G A stop_gained R95* 283C>T UCEC-US 22 39085046 39085046 single base substitution G A downstream_gene_variant UCEC-US 22 39085046 39085046 single base substitution G A exon_variant UCEC-US 22 39085046 39085046 single base substitution G A missense_variant L135F 403C>T UCEC-US 22 39085046 39085046 single base substitution G A missense_variant L86F 256C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand AOCS-153-1-2 COSM4137451 c.494G>T p.G165V Substitution - Missense 22:38688950-38688950 - tumor_4163639 COSM726310 c.405C>G p.L135L Substitution - coding silent 22:38689039-38689039 - TCGA-DK-A2I6-01 COSM1308161 c.121C>A p.L41I Substitution - Missense 22:38699867-38699867 - MO_1221 COSM5557385 c.175A>G p.I59V Substitution - Missense 22:38699813-38699813 - TCGA-AN-A0AK-01 COSM3842691 c.270A>C p.A90A Substitution - coding silent 22:38689340-38689340 - Au4 COSM5603828 c.385G>A p.G129S Substitution - Missense 22:38689059-38689059 - RK221_C01 COSM4780743 c.512A>C p.K171T Substitution - Missense 22:38687999-38687999 - HCC49T COSM1616453 c.223A>C p.S75R Substitution - Missense 22:38689387-38689387 - PCSI_0072_Pa_X COSM216573 c.496G>T p.E166* Substitution - Nonsense 22:38688948-38688948 - OV207 COSM253009 c.552_554delCCT p.L186delL Deletion - In frame 22:38687957-38687959 - OSCC-GB_00180111 COSM3713736 c.246C>T p.Y82Y Substitution - coding silent 22:38689364-38689364 - TCGA-EK-A2PM-01 COSM4831327 c.278C>A p.T93N Substitution - Missense 22:38689332-38689332 - J65_T COSM3964285 c.100G>A p.E34K Substitution - Missense 22:38699888-38699888 - CSCC-32-T COSM4490512 c.364C>T p.L122L Substitution - coding silent 22:38689080-38689080 - TCGA-36-1577-01 COSM111554 c.16delT p.W6fs*64 Deletion - Frameshift 22:38699972-38699972 - 587278 COSM1211279 c.609A>T p.*203Y Nonstop extension 22:38687902-38687902 - TCGA-BR-8361-01 COSM4104121 c.431G>A p.R144Q Substitution - Missense 22:38689013-38689013 - OSCC-GB_01210111 COSM5954870 c.78C>T p.I26I Substitution - coding silent 22:38699910-38699910 - PCSI_0072_Pa_P_526 COSM216573 c.496G>T p.E166* Substitution - Nonsense 22:38688948-38688948 - PCSI0072 COSM216573 c.496G>T p.E166* Substitution - Nonsense 22:38688948-38688948 - TCGA-A6-6781-01 COSM379285 c.343G>A p.V115I Substitution - Missense 22:38689101-38689101 - HCC49 COSM1616453 c.223A>C p.S75R Substitution - Missense 22:38689387-38689387 - AOCS-116-1-3 COSM4137452 c.200C>G p.T67S Substitution - Missense 22:38689410-38689410 - 18T COSM3713736 c.246C>T p.Y82Y Substitution - coding silent 22:38689364-38689364 - LUAD-RT-S01702 COSM379285 c.343G>A p.V115I Substitution - Missense 22:38689101-38689101 - YULOCUS COSM5393621 c.543C>T p.N181N Substitution - coding silent 22:38687968-38687968 - PD9702a COSM5772610 c.588G>C p.Q196H Substitution - Missense 22:38687923-38687923 - SWE-38 COSM1034168 c.430C>T p.R144* Substitution - Nonsense 22:38689014-38689014 - 234 COSM3731293 c.443G>T p.G148V Substitution - Missense 22:38689001-38689001 - TCGA-B5-A0JY-01 COSM1034168 c.430C>T p.R144* Substitution - Nonsense 22:38689014-38689014 - J65_T COSM3964284 c.172G>C p.E58Q Substitution - Missense 22:38699816-38699816 - ESO-081 COSM1243327 c.452A>G p.Y151C Substitution - Missense 22:38688992-38688992 - TCGA-AP-A0LM-01 COSM1034169 c.403C>T p.L135F Substitution - Missense 22:38689041-38689041 - HT115 COSM3151495 c.191C>T p.S64F Substitution - Missense 22:38689419-38689419 - PCSI_0072_Pa_P COSM216573 c.496G>T p.E166* Substitution - Nonsense 22:38688948-38688948 - PD24207a COSM5768251 c.252G>A p.V84V Substitution - coding silent 22:38689358-38689358 - YUKSI COSM5393622 c.114C>T p.L38L Substitution - coding silent 22:38699874-38699874 - TCGA-46-3768-01 COSM726310 c.405C>G p.L135L Substitution - coding silent 22:38689039-38689039 - 2492729 COSM5726449 c.510-1G>A p.? Unknown 22:38688002-38688002 - 18698 COSM5346553 c.459C>T p.L153L Substitution - coding silent 22:38688985-38688985 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.3094 22q13.1 2435308|CGAP|BC015026|C/T|non-coding||2642|Confirmed; 861704|dbSNP|BC015026|A/C|non-coding||1701|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.W6Gfs*64 c.16delT 22 39095977 OV C A Nonsense p.E166* c.496G>T 22 39084953 PAAD C A SpliceDonorSNV . c.314+1G>T 22 39085300 LUAD G A 3-UTRSNV . c.606+116C>T 22 39083794 CM G A 3-UTRSNV . c.606+117C>T 22 39083793 CM G C Synonymous p.L135L c.405C>G 22 39085044 DLBCL G C Synonymous p.L135L c.405C>G 22 39085044 LUSC G T Missense p.L41I c.121C>A 22 39095872 BLCA