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 2 55461976 55461976 + Missense_Mutation SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr2:55461976C>G c.199C>G c.(199-201)Ctt>Gtt p.L67V CESC 2 55459972 55459972 + Silent SNP C C T TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chr2:55459972C>T c.12C>T c.(10-12)ttC>ttT p.F4F HNSC 2 55460509 55460509 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr2:55460509C>G c.59C>G c.(58-60)tCg>tGg p.S20W HNSC 2 55462059 55462059 + Silent SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 g.chr2:55462059G>A c.282G>A c.(280-282)aaG>aaA p.K94K KIPAN 2 55462091 55462091 + Missense_Mutation SNP A A T TCGA-B0-4844-01A-01D-1361-10 TCGA-B0-4844-11A-01D-1361-10 g.chr2:55462091A>T c.314A>T c.(313-315)tAt>tTt p.Y105F KIRC 2 55462091 55462091 + Missense_Mutation SNP A A T TCGA-B0-4844-01A-01D-1361-10 TCGA-B0-4844-11A-01D-1361-10 g.chr2:55462091A>T c.314A>T c.(313-315)tAt>tTt p.Y105F LIHC 2 55460543 55460543 + Silent SNP G G A TCGA-DD-AAC9-01A-11D-A40R-10 TCGA-DD-AAC9-10A-01D-A40U-10 g.chr2:55460543G>A c.93G>A c.(91-93)caG>caA p.Q31Q LIHC 2 55461316 55461316 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr2:55461316delT c.165delT c.(163-165)actfs p.T55fs LUAD 2 55462635 55462635 + Silent SNP T T C TCGA-99-8033-01A-11D-2238-08 TCGA-99-8033-10A-01D-2238-08 g.chr2:55462635T>C c.393T>C c.(391-393)ttT>ttC p.F131F OV 2 55462090 55462090 + Missense_Mutation SNP T T C TCGA-24-2262-01A-01W-0799-08 TCGA-24-2262-11A-01W-0799-08 g.chr2:55462090T>C c.313T>C c.(313-315)Tat>Cat p.Y105H PCPG 2 55460001 55460001 + Missense_Mutation SNP C C T TCGA-QR-A6GT-01A-11D-A35D-08 TCGA-QR-A6GT-10A-01D-A35B-08 g.chr2:55460001C>T c.41C>T c.(40-42)aCc>aTc p.T14I PRAD 2 55462017 55462019 + In_Frame_Del DEL GAA GAA - TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr2:55462017_55462019delGAA c.240_242delGAA c.(238-243)aggaag>agg p.K83del PRAD 2 55462094 55462094 + Missense_Mutation SNP A A G TCGA-HC-A6AS-01A-11D-A30E-08 TCGA-HC-A6AS-10A-01D-A30H-08 g.chr2:55462094A>G c.317A>G c.(316-318)tAt>tGt p.Y106C

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 2 55461976 55461976 single base substitution C G downstream_gene_variant BLCA-US 2 55461976 55461976 single base substitution C G exon_variant BLCA-US 2 55461976 55461976 single base substitution C G missense_variant L67V 199C>G BLCA-US 2 55464514 55464514 single base substitution C A downstream_gene_variant BRCA-EU 2 55456416 55456416 single base substitution G A upstream_gene_variant BRCA-EU 2 55458213 55458213 single base substitution C A upstream_gene_variant BRCA-EU 2 55459610 55459610 single base substitution T A 5_prime_UTR_variant BRCA-EU 2 55459610 55459610 single base substitution T A intron_variant BRCA-EU 2 55459610 55459610 single base substitution T A upstream_gene_variant BRCA-EU 2 55460268 55460268 single base substitution C T exon_variant BRCA-EU 2 55460268 55460268 single base substitution C T intron_variant BRCA-EU 2 55460268 55460268 single base substitution C T upstream_gene_variant BRCA-EU 2 55461436 55461436 single base substitution C A downstream_gene_variant BRCA-EU 2 55461436 55461436 single base substitution C A exon_variant BRCA-EU 2 55461436 55461436 single base substitution C A intron_variant BRCA-EU 2 55462008 55462008 single base substitution T C downstream_gene_variant BRCA-EU 2 55462008 55462008 single base substitution T C exon_variant BRCA-EU 2 55462008 55462008 single base substitution T C synonymous_variant A77A 231T>C BRCA-EU 2 55462888 55462888 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 55462888 55462888 single base substitution C T downstream_gene_variant BRCA-EU 2 55463383 55463383 single base substitution G C downstream_gene_variant BRCA-EU 2 55463795 55463795 single base substitution G C downstream_gene_variant BRCA-EU 2 55467289 55467289 single base substitution C G downstream_gene_variant BRCA-EU 2 55467716 55467716 deletion of <=200bp A - downstream_gene_variant BRCA-FR 2 55466321 55466321 single base substitution G A downstream_gene_variant BRCA-UK 2 55461436 55461436 single base substitution C A downstream_gene_variant BRCA-UK 2 55461436 55461436 single base substitution C A exon_variant BRCA-UK 2 55461436 55461436 single base substitution C A intron_variant BRCA-US 2 55463838 55463840 deletion of <=200bp AAC - downstream_gene_variant BRCA-US 2 55463924 55463924 single base substitution C T downstream_gene_variant BRCA-US 2 55467276 55467276 single base substitution C T downstream_gene_variant BTCA-JP 2 55461370 55461371 deletion of <=200bp AA - downstream_gene_variant BTCA-JP 2 55461370 55461371 deletion of <=200bp AA - exon_variant BTCA-JP 2 55461370 55461371 deletion of <=200bp AA - intron_variant CESC-US 2 55459972 55459972 single base substitution C T exon_variant CESC-US 2 55459972 55459972 single base substitution C T synonymous_variant F4F 12C>T CESC-US 2 55459972 55459972 single base substitution C T upstream_gene_variant CLLE-ES 2 55463158 55463158 single base substitution A T downstream_gene_variant COAD-US 2 55463835 55463835 single base substitution A C downstream_gene_variant COAD-US 2 55467249 55467249 single base substitution C T downstream_gene_variant COAD-US 2 55467250 55467250 deletion of <=200bp T - downstream_gene_variant COCA-CN 2 55460050 55460050 single base substitution G T exon_variant COCA-CN 2 55460050 55460050 single base substitution G T intron_variant COCA-CN 2 55460050 55460050 single base substitution G T upstream_gene_variant COCA-CN 2 55462090 55462092 deletion of <=200bp TAT - downstream_gene_variant COCA-CN 2 55462090 55462092 deletion of <=200bp TAT - exon_variant COCA-CN 2 55462090 55462092 deletion of <=200bp TAT - inframe_deletion Y105 COCA-CN 2 55463966 55463966 single base substitution G T downstream_gene_variant COCA-CN 2 55464450 55464453 deletion of <=200bp GTTA - downstream_gene_variant ESAD-UK 2 55456255 55456255 single base substitution C G upstream_gene_variant ESAD-UK 2 55456681 55456681 single base substitution G C upstream_gene_variant ESAD-UK 2 55457744 55457744 single base substitution T C upstream_gene_variant ESAD-UK 2 55459853 55459853 single base substitution C G 5_prime_UTR_variant ESAD-UK 2 55459853 55459853 single base substitution C G exon_variant ESAD-UK 2 55459853 55459853 single base substitution C G intron_variant ESAD-UK 2 55459853 55459853 single base substitution C G upstream_gene_variant ESAD-UK 2 55461369 55461369 single base substitution T A downstream_gene_variant ESAD-UK 2 55461369 55461369 single base substitution T A exon_variant ESAD-UK 2 55461369 55461369 single base substitution T A intron_variant ESAD-UK 2 55464461 55464461 insertion of <=200bp - T downstream_gene_variant ESAD-UK 2 55465195 55465195 single base substitution A T downstream_gene_variant ESAD-UK 2 55465684 55465684 single base substitution C T downstream_gene_variant ESAD-UK 2 55467461 55467461 single base substitution A T downstream_gene_variant ESAD-UK 2 55467463 55467463 single base substitution T G downstream_gene_variant ESAD-UK 2 55467615 55467615 single base substitution C T downstream_gene_variant ESCA-CN 2 55460306 55460306 single base substitution C A exon_variant ESCA-CN 2 55460306 55460306 single base substitution C A intron_variant ESCA-CN 2 55460306 55460306 single base substitution C A upstream_gene_variant KIRC-US 2 55462091 55462091 single base substitution A T downstream_gene_variant KIRC-US 2 55462091 55462091 single base substitution A T exon_variant KIRC-US 2 55462091 55462091 single base substitution A T missense_variant Y105F 314A>T LICA-FR 2 55461817 55461817 single base substitution A C downstream_gene_variant LICA-FR 2 55461817 55461817 single base substitution A C exon_variant LICA-FR 2 55461817 55461817 single base substitution A C intron_variant LICA-FR 2 55463864 55463864 insertion of <=200bp - C downstream_gene_variant LICA-FR 2 55464777 55464777 single base substitution C T downstream_gene_variant LIHC-US 2 55462628 55462628 single base substitution G A downstream_gene_variant LIHC-US 2 55462628 55462628 single base substitution G A exon_variant LIHC-US 2 55462628 55462628 single base substitution G A missense_variant G129E 386G>A LINC-JP 2 55461370 55461370 single base substitution A T downstream_gene_variant LINC-JP 2 55461370 55461370 single base substitution A T exon_variant LINC-JP 2 55461370 55461370 single base substitution A T intron_variant LINC-JP 2 55464214 55464214 single base substitution T C downstream_gene_variant LINC-JP 2 55465195 55465195 single base substitution A T downstream_gene_variant LIRI-JP 2 55455615 55455615 single base substitution A C upstream_gene_variant LIRI-JP 2 55456463 55456463 single base substitution T C upstream_gene_variant LIRI-JP 2 55457329 55457329 single base substitution G C upstream_gene_variant LIRI-JP 2 55458628 55458628 single base substitution T C upstream_gene_variant LIRI-JP 2 55458645 55458645 single base substitution A C upstream_gene_variant LIRI-JP 2 55458658 55458658 single base substitution A C upstream_gene_variant LIRI-JP 2 55461312 55461312 single base substitution G A downstream_gene_variant LIRI-JP 2 55461312 55461312 single base substitution G A exon_variant LIRI-JP 2 55461312 55461312 single base substitution G A missense_variant R54H 161G>A LIRI-JP 2 55462079 55462079 single base substitution C A downstream_gene_variant LIRI-JP 2 55462079 55462079 single base substitution C A exon_variant LIRI-JP 2 55462079 55462079 single base substitution C A missense_variant A101D 302C>A LIRI-JP 2 55466022 55466022 deletion of <=200bp T - downstream_gene_variant LUSC-KR 2 55456261 55456261 single base substitution T G upstream_gene_variant LUSC-KR 2 55460323 55460323 single base substitution G C exon_variant LUSC-KR 2 55460323 55460323 single base substitution G C intron_variant LUSC-KR 2 55460323 55460323 single base substitution G C upstream_gene_variant LUSC-KR 2 55460605 55460605 single base substitution A T downstream_gene_variant LUSC-KR 2 55460605 55460605 single base substitution A T exon_variant LUSC-KR 2 55460605 55460605 single base substitution A T intron_variant LUSC-KR 2 55461823 55461823 single base substitution T A downstream_gene_variant LUSC-KR 2 55461823 55461823 single base substitution T A exon_variant LUSC-KR 2 55461823 55461823 single base substitution T A intron_variant LUSC-KR 2 55467122 55467122 single base substitution A C downstream_gene_variant MALY-DE 2 55460151 55460151 single base substitution C A exon_variant MALY-DE 2 55460151 55460151 single base substitution C A intron_variant MALY-DE 2 55460151 55460151 single base substitution C A upstream_gene_variant MALY-DE 2 55462156 55462156 single base substitution T G downstream_gene_variant MALY-DE 2 55462156 55462156 single base substitution T G exon_variant MALY-DE 2 55462156 55462156 single base substitution T G intron_variant MELA-AU 2 55455076 55455076 single base substitution G A upstream_gene_variant MELA-AU 2 55456447 55456447 single base substitution G A upstream_gene_variant MELA-AU 2 55457149 55457149 single base substitution G A upstream_gene_variant MELA-AU 2 55457188 55457189 deletion of <=200bp AC - upstream_gene_variant MELA-AU 2 55457446 55457446 single base substitution G A upstream_gene_variant MELA-AU 2 55457901 55457901 single base substitution G A upstream_gene_variant MELA-AU 2 55458009 55458009 single base substitution G A upstream_gene_variant MELA-AU 2 55458559 55458559 single base substitution G A upstream_gene_variant MELA-AU 2 55458801 55458801 single base substitution G A upstream_gene_variant MELA-AU 2 55459089 55459090 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 2 55459089 55459090 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 55459485 55459485 single base substitution G A intron_variant MELA-AU 2 55459485 55459485 single base substitution G A upstream_gene_variant MELA-AU 2 55459516 55459516 single base substitution C T intron_variant MELA-AU 2 55459516 55459516 single base substitution C T upstream_gene_variant MELA-AU 2 55459517 55459517 single base substitution C T intron_variant MELA-AU 2 55459517 55459517 single base substitution C T upstream_gene_variant MELA-AU 2 55459526 55459526 single base substitution C T intron_variant MELA-AU 2 55459526 55459526 single base substitution C T upstream_gene_variant MELA-AU 2 55459527 55459527 single base substitution C T intron_variant MELA-AU 2 55459527 55459527 single base substitution C T upstream_gene_variant MELA-AU 2 55459538 55459538 single base substitution C T 5_prime_UTR_variant MELA-AU 2 55459538 55459538 single base substitution C T intron_variant MELA-AU 2 55459538 55459538 single base substitution C T upstream_gene_variant MELA-AU 2 55459598 55459599 multiple base substitution (>=2bp and <=200bp) TA AT 5_prime_UTR_variant MELA-AU 2 55459598 55459599 multiple base substitution (>=2bp and <=200bp) TA AT intron_variant MELA-AU 2 55459598 55459599 multiple base substitution (>=2bp and <=200bp) TA AT upstream_gene_variant MELA-AU 2 55459633 55459633 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 2 55459633 55459633 single base substitution C T intron_variant MELA-AU 2 55459633 55459633 single base substitution C T upstream_gene_variant MELA-AU 2 55459776 55459776 single base substitution C T 5_prime_UTR_variant MELA-AU 2 55459776 55459776 single base substitution C T intron_variant MELA-AU 2 55459776 55459776 single base substitution C T upstream_gene_variant MELA-AU 2 55460162 55460162 single base substitution C T exon_variant MELA-AU 2 55460162 55460162 single base substitution C T intron_variant MELA-AU 2 55460162 55460162 single base substitution C T upstream_gene_variant MELA-AU 2 55460224 55460224 single base substitution T C exon_variant MELA-AU 2 55460224 55460224 single base substitution T C intron_variant MELA-AU 2 55460224 55460224 single base substitution T C upstream_gene_variant MELA-AU 2 55460916 55460916 single base substitution C T downstream_gene_variant MELA-AU 2 55460916 55460916 single base substitution C T exon_variant MELA-AU 2 55460916 55460916 single base substitution C T intron_variant MELA-AU 2 55461084 55461084 single base substitution T G downstream_gene_variant MELA-AU 2 55461084 55461084 single base substitution T G intron_variant MELA-AU 2 55462172 55462196 deletion of <=200bp CAATATTTTCTTGGACTTAAACACC - downstream_gene_variant MELA-AU 2 55462172 55462196 deletion of <=200bp CAATATTTTCTTGGACTTAAACACC - exon_variant MELA-AU 2 55462172 55462196 deletion of <=200bp CAATATTTTCTTGGACTTAAACACC - intron_variant MELA-AU 2 55462998 55462998 single base substitution G T downstream_gene_variant MELA-AU 2 55463192 55463192 single base substitution C T downstream_gene_variant MELA-AU 2 55463316 55463316 single base substitution C T downstream_gene_variant MELA-AU 2 55465637 55465638 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 55467438 55467438 single base substitution C T downstream_gene_variant ORCA-IN 2 55454888 55454888 single base substitution A G upstream_gene_variant ORCA-IN 2 55461765 55461765 single base substitution T C downstream_gene_variant ORCA-IN 2 55461765 55461765 single base substitution T C exon_variant ORCA-IN 2 55461765 55461765 single base substitution T C intron_variant OV-AU 2 55456860 55456860 single base substitution C T upstream_gene_variant OV-AU 2 55461032 55461032 single base substitution T C downstream_gene_variant OV-AU 2 55461032 55461032 single base substitution T C intron_variant OV-AU 2 55464559 55464559 single base substitution C T downstream_gene_variant OV-AU 2 55467572 55467572 single base substitution C T downstream_gene_variant PACA-AU 2 55456650 55456650 single base substitution G A upstream_gene_variant PACA-AU 2 55462554 55462554 single base substitution T C downstream_gene_variant PACA-AU 2 55462554 55462554 single base substitution T C intron_variant PACA-AU 2 55463082 55463082 single base substitution G C downstream_gene_variant PACA-AU 2 55463435 55463451 deletion of <=200bp TAAAAGACAGTTTAGTT - downstream_gene_variant PACA-AU 2 55465769 55465769 single base substitution C T downstream_gene_variant PACA-AU 2 55467621 55467623 deletion of <=200bp AGG - downstream_gene_variant PACA-CA 2 55455036 55455036 single base substitution T C upstream_gene_variant PACA-CA 2 55457959 55457959 single base substitution C T upstream_gene_variant PACA-CA 2 55459143 55459143 deletion of <=200bp T - 5_prime_UTR_variant PACA-CA 2 55459143 55459143 deletion of <=200bp T - upstream_gene_variant PACA-CA 2 55459159 55459159 single base substitution G A 5_prime_UTR_variant PACA-CA 2 55459159 55459159 single base substitution G A upstream_gene_variant PACA-CA 2 55467044 55467044 single base substitution T C downstream_gene_variant PAEN-AU 2 55454053 55454053 single base substitution G A upstream_gene_variant PBCA-DE 2 55463364 55463364 single base substitution G A downstream_gene_variant PBCA-DE 2 55466142 55466142 single base substitution A G downstream_gene_variant PBCA-DE 2 55467823 55467823 insertion of <=200bp - TTT downstream_gene_variant PRAD-CA 2 55461369 55461369 single base substitution T A downstream_gene_variant PRAD-CA 2 55461369 55461369 single base substitution T A exon_variant PRAD-CA 2 55461369 55461369 single base substitution T A intron_variant PRAD-UK 2 55465052 55465052 single base substitution G A downstream_gene_variant PRAD-UK 2 55465053 55465053 single base substitution C A downstream_gene_variant PRAD-UK 2 55466580 55466606 deletion of <=200bp TTTTTCTCTTGCAATTTTTCTGGAAAT - downstream_gene_variant PRAD-UK 2 55467785 55467785 single base substitution T A downstream_gene_variant PRAD-US 2 55462017 55462019 deletion of <=200bp GAA - downstream_gene_variant PRAD-US 2 55462017 55462019 deletion of <=200bp GAA - exon_variant PRAD-US 2 55462017 55462019 deletion of <=200bp GAA - inframe_deletion RK80R PRAD-US 2 55462094 55462094 single base substitution A G downstream_gene_variant PRAD-US 2 55462094 55462094 single base substitution A G exon_variant PRAD-US 2 55462094 55462094 single base substitution A G missense_variant Y106C 317A>G SKCA-BR 2 55458449 55458449 single base substitution C A upstream_gene_variant SKCM-US 2 55459989 55459989 single base substitution G A exon_variant SKCM-US 2 55459989 55459989 single base substitution G A missense_variant G10E 29G>A SKCM-US 2 55459989 55459989 single base substitution G A upstream_gene_variant SKCM-US 2 55462591 55462591 single base substitution C A downstream_gene_variant SKCM-US 2 55462591 55462591 single base substitution C A exon_variant SKCM-US 2 55462591 55462591 single base substitution C A missense_variant L117I 349C>A SKCM-US 2 55467224 55467224 single base substitution A G downstream_gene_variant SKCM-US 2 55467227 55467227 single base substitution T A downstream_gene_variant STAD-US 2 55461288 55461288 single base substitution C T downstream_gene_variant STAD-US 2 55461288 55461288 single base substitution C T exon_variant STAD-US 2 55461288 55461288 single base substitution C T missense_variant A46V 137C>T STAD-US 2 55462594 55462594 single base substitution C T downstream_gene_variant STAD-US 2 55462594 55462594 single base substitution C T exon_variant STAD-US 2 55462594 55462594 single base substitution C T missense_variant R118C 352C>T STAD-US 2 55464461 55464461 deletion of <=200bp T - downstream_gene_variant STAD-US 2 55464533 55464533 single base substitution T C downstream_gene_variant STAD-US 2 55467153 55467153 single base substitution G T downstream_gene_variant THCA-SA 2 55459180 55459180 single base substitution T C 5_prime_UTR_variant THCA-SA 2 55459180 55459180 single base substitution T C upstream_gene_variant UCEC-US 2 55460516 55460516 single base substitution G A downstream_gene_variant UCEC-US 2 55460516 55460516 single base substitution G A exon_variant UCEC-US 2 55460516 55460516 single base substitution G A synonymous_variant T22T 66G>A UCEC-US 2 55461327 55461327 single base substitution A G downstream_gene_variant UCEC-US 2 55461327 55461327 single base substitution A G exon_variant UCEC-US 2 55461327 55461327 single base substitution A G missense_variant Y59C 176A>G UCEC-US 2 55462017 55462019 deletion of <=200bp GAA - downstream_gene_variant UCEC-US 2 55462017 55462019 deletion of <=200bp GAA - exon_variant UCEC-US 2 55462017 55462019 deletion of <=200bp GAA - inframe_deletion RK80R UCEC-US 2 55462068 55462068 single base substitution G T downstream_gene_variant UCEC-US 2 55462068 55462068 single base substitution G T exon_variant UCEC-US 2 55462068 55462068 single base substitution G T missense_variant K97N 291G>T UCEC-US 2 55462577 55462577 single base substitution G A downstream_gene_variant UCEC-US 2 55462577 55462577 single base substitution G A exon_variant UCEC-US 2 55462577 55462577 single base substitution G A missense_variant G112D 335G>A UCEC-US 2 55464459 55464459 single base substitution A C downstream_gene_variant UCEC-US 2 55467222 55467222 single base substitution T C downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 8012210 COSM1168940 c.115_116insGAG p.P38_D39insG Insertion - In frame 2:55234130-55234131 + TCGA-DK-A1A5-01 COSM419138 c.199C>G p.L67V Substitution - Missense 2:55234840-55234840 + TCGA-BS-A0UF-01 COSM1021818 c.66G>A p.T22T Substitution - coding silent 2:55233380-55233380 + TCGA-A5-A0VP-01 COSM1021819 c.176A>G p.Y59C Substitution - Missense 2:55234191-55234191 + TCGA-EB-A24D-01 COSM3582315 c.29G>A p.G10E Substitution - Missense 2:55232853-55232853 + HCC2998 COSM3053087 c.372T>C p.D124D Substitution - coding silent 2:55235478-55235478 + TCGA-CG-4437-01 COSM4094870 c.137C>T p.A46V Substitution - Missense 2:55234152-55234152 + TCGA-24-2262-01 COSM72487 c.313T>C p.Y105H Substitution - Missense 2:55234954-55234954 + ccRCC-85 COSM1659985 c.272A>G p.N91S Substitution - Missense 2:55234913-55234913 + TCGA-D9-A3Z4-01 COSM3582316 c.349C>A p.L117I Substitution - Missense 2:55235455-55235455 + TCGA-BC-A217-01 COSM4936845 c.386G>A p.G129E Substitution - Missense 2:55235492-55235492 + Au10 COSM5598739 c.251C>G p.S84C Substitution - Missense 2:55234892-55234892 + ICGC_0025 COSM1158841 c.116_117insGAG p.D39>ES Complex - insertion inframe 2:55234131-55234132 + TCGA-HC-A6AS-01 COSM3673710 c.317A>G p.Y106C Substitution - Missense 2:55234958-55234958 + CSCC-40-T COSM4094871 c.352C>T p.R118C Substitution - Missense 2:55235458-55235458 + TCGA-DS-A0VM-01 COSM461010 c.12C>T p.F4F Substitution - coding silent 2:55232836-55232836 + TCGA-D1-A177-01 COSM1021820 c.240_242delGAA p.K83delK Deletion - In frame 2:55234881-55234883 + PD11327a COSM5786101 c.231T>C p.A77A Substitution - coding silent 2:55234872-55234872 + RK308_C01 COSM3743842 c.302C>A p.A101D Substitution - Missense 2:55234943-55234943 + T2225 COSM4094871 c.352C>T p.R118C Substitution - Missense 2:55235458-55235458 + CRC-02T COSM5455961 c.313_315delTAT p.Y106delY Deletion - In frame 2:55234954-55234956 + TCGA-AP-A0LM-01 COSM1021821 c.291G>T p.K97N Substitution - Missense 2:55234932-55234932 + TCGA-B0-4844-01 COSM3364774 c.314A>T p.Y105F Substitution - Missense 2:55234955-55234955 + TCGA-AP-A0LM-01 COSM1021822 c.335G>A p.G112D Substitution - Missense 2:55235441-55235441 + 8031146 COSM3771116 c.322-10T>C p.? Unknown 2:55235418-55235418 + TCGA-FP-A4BF-01 COSM4094871 c.352C>T p.R118C Substitution - Missense 2:55235458-55235458 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.311640 2p16 191343 Hs.546292 2p16 191343

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.Y106C c.317A>G 2 55462094 PRAD A G Missense p.Y59C c.176A>G 2 55461327 UCEC A T Missense p.Y105F c.314A>T 2 55462091 RCCC C G Missense p.L67V c.199C>G 2 55461976 BLCA C G Missense p.S20W c.59C>G 2 55460509 HNSC C T IntronicSNV . c.189+19C>T 2 55461359 CM C T IntronicSNV . c.321+35C>T 2 55462133 CM C T Missense p.A46V c.137C>T 2 55461288 STAD GAA - InFrameDeletion p.K83delK c.247_249delAAG 2 55462017 UCEC G A IntronicSNV . c.321+24G>A 2 55462122 CM G A Missense p.G10E c.29G>A 2 55459989 CM G A Missense p.G53E c.158G>A 2 55461309 CM G A Synonymous p.K94K c.282G>A 2 55462059 HNSC T C Missense p.Y105H c.313T>C 2 55462090 OV T G IntronicSNV . c.321+58T>G 2 55462156 DLBCL