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 21965299 21965299 + Nonsense_Mutation SNP G G T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chr22:21965299G>T c.277G>T c.(277-279)Gaa>Taa p.E93* BLCA 22 21975863 21975863 + Missense_Mutation SNP G G T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 g.chr22:21975863G>T c.370G>T c.(370-372)Gac>Tac p.D124Y BRCA 22 21922054 21922054 + Silent SNP G G T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr22:21922054G>T c.21G>T c.(19-21)ctG>ctT p.L7L BRCA 22 21947188 21947188 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr22:21947188C>A c.66C>A c.(64-66)ttC>ttA p.F22L COAD 22 21947219 21947219 + Missense_Mutation SNP T T A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr22:21947219T>A c.97T>A c.(97-99)Ttg>Atg p.L33M COAD 22 21947227 21947227 + Nonsense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr22:21947227G>A c.105G>A c.(103-105)tgG>tgA p.W35* COAD 22 21965165 21965165 + Missense_Mutation SNP A A C TCGA-AA-3852-01A-01W-0900-09 TCGA-AA-3852-10A-01W-0900-09 g.chr22:21965165A>C c.143A>C c.(142-144)aAg>aCg p.K48T COAD 22 21965174 21965179 + In_Frame_Del DEL TCAGAA TCAGAA - TCGA-CA-6715-01A-21D-1835-10 TCGA-CA-6715-10A-01D-1835-10 g.chr22:21965174_21965179delTCAGAA c.152_157delTCAGAA c.(151-159)ttcagaatc>ttc p.RI52del COAD 22 21965222 21965222 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr22:21965222A>C c.200A>C c.(199-201)aAg>aCg p.K67T COAD 22 21965226 21965226 + Silent SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr22:21965226C>T c.204C>T c.(202-204)atC>atT p.I68I COADREAD 22 21947219 21947219 + Missense_Mutation SNP T T A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr22:21947219T>A c.97T>A c.(97-99)Ttg>Atg p.L33M COADREAD 22 21947227 21947227 + Nonsense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr22:21947227G>A c.105G>A c.(103-105)tgG>tgA p.W35* COADREAD 22 21965165 21965165 + Missense_Mutation SNP A A C TCGA-AA-3852-01A-01W-0900-09 TCGA-AA-3852-10A-01W-0900-09 g.chr22:21965165A>C c.143A>C c.(142-144)aAg>aCg p.K48T COADREAD 22 21965174 21965179 + In_Frame_Del DEL TCAGAA TCAGAA - TCGA-CA-6715-01A-21D-1835-10 TCGA-CA-6715-10A-01D-1835-10 g.chr22:21965174_21965179delTCAGAA c.152_157delTCAGAA c.(151-159)ttcagaatc>ttc p.RI52del COADREAD 22 21965222 21965222 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr22:21965222A>C c.200A>C c.(199-201)aAg>aCg p.K67T COADREAD 22 21965226 21965226 + Silent SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr22:21965226C>T c.204C>T c.(202-204)atC>atT p.I68I DLBC 22 21965298 21965298 + Silent SNP C C G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr22:21965298C>G c.276C>G c.(274-276)gcC>gcG p.A92A HNSC 22 21947165 21947165 + Missense_Mutation SNP C C T TCGA-P3-A6T0-01A-12D-A34J-08 TCGA-P3-A6T0-10A-01D-A34M-08 g.chr22:21947165C>T c.43C>T c.(43-45)Cgc>Tgc p.R15C HNSC 22 21975875 21975875 + Missense_Mutation SNP G G A TCGA-CV-5431-01A-01D-1512-08 TCGA-CV-5431-11A-01D-1512-08 g.chr22:21975875G>A c.382G>A c.(382-384)Gaa>Aaa p.E128K KIPAN 22 21975858 21975858 + Missense_Mutation SNP G G C TCGA-BQ-5892-01A-11D-1589-08 TCGA-BQ-5892-11A-01D-1589-08 g.chr22:21975858G>C c.365G>C c.(364-366)cGg>cCg p.R122P KIRP 22 21975858 21975858 + Missense_Mutation SNP G G C TCGA-BQ-5892-01A-11D-1589-08 TCGA-BQ-5892-11A-01D-1589-08 g.chr22:21975858G>C c.365G>C c.(364-366)cGg>cCg p.R122P LIHC 22 21922044 21922044 + Missense_Mutation SNP G G T TCGA-BC-A3KF-01A-11D-A20W-10 TCGA-BC-A3KF-10A-01D-A20W-10 g.chr22:21922044G>T c.11G>T c.(10-12)aGc>aTc p.S4I PRAD 22 21947210 21947210 + Missense_Mutation SNP G G C TCGA-VP-A87E-01A-31D-A34U-08 TCGA-VP-A87E-10A-01D-A34X-08 g.chr22:21947210G>C c.88G>C c.(88-90)Gct>Cct p.A30P SKCM 22 21947178 21947178 + Missense_Mutation SNP T T C TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr22:21947178T>C c.56T>C c.(55-57)aTg>aCg p.M19T

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 22 21900729 21900729 single base substitution G A upstream_gene_variant BLCA-CN 22 21901449 21901449 single base substitution T C upstream_gene_variant BLCA-CN 22 21965185 21965185 single base substitution A T exon_variant BLCA-CN 22 21965185 21965185 single base substitution A T missense_variant I113F 337A>T BLCA-CN 22 21965185 21965185 single base substitution A T missense_variant I23F 67A>T BLCA-CN 22 21965185 21965185 single base substitution A T missense_variant I55F 163A>T BRCA-EU 22 21907250 21907250 single base substitution G A intron_variant BRCA-EU 22 21907591 21907591 single base substitution G T intron_variant BRCA-EU 22 21908607 21908607 single base substitution A G intron_variant BRCA-EU 22 21909172 21909172 single base substitution C G intron_variant BRCA-EU 22 21909588 21909588 single base substitution T G intron_variant BRCA-EU 22 21910372 21910372 single base substitution T G intron_variant BRCA-EU 22 21911551 21911551 single base substitution G A intron_variant BRCA-EU 22 21912976 21912976 single base substitution C T intron_variant BRCA-EU 22 21913281 21913281 single base substitution G C intron_variant BRCA-EU 22 21915294 21915294 single base substitution G A intron_variant BRCA-EU 22 21915880 21915881 deletion of <=200bp AG - intron_variant BRCA-EU 22 21915881 21915881 deletion of <=200bp G - intron_variant BRCA-EU 22 21915949 21915949 single base substitution T C intron_variant BRCA-EU 22 21916231 21916231 single base substitution C G intron_variant BRCA-EU 22 21916641 21916641 single base substitution A G intron_variant BRCA-EU 22 21916763 21916763 single base substitution C T intron_variant BRCA-EU 22 21917086 21917086 single base substitution G T intron_variant BRCA-EU 22 21917086 21917086 single base substitution G T upstream_gene_variant BRCA-EU 22 21917217 21917217 single base substitution G C intron_variant BRCA-EU 22 21917217 21917217 single base substitution G C upstream_gene_variant BRCA-EU 22 21917775 21917775 single base substitution C T intron_variant BRCA-EU 22 21917775 21917775 single base substitution C T upstream_gene_variant BRCA-EU 22 21918519 21918519 single base substitution C G intron_variant BRCA-EU 22 21918519 21918519 single base substitution C G upstream_gene_variant BRCA-EU 22 21919284 21919284 single base substitution C A intron_variant BRCA-EU 22 21919284 21919284 single base substitution C A upstream_gene_variant BRCA-EU 22 21920185 21920185 single base substitution G A intron_variant BRCA-EU 22 21920185 21920185 single base substitution G A upstream_gene_variant BRCA-EU 22 21921148 21921148 single base substitution G A intron_variant BRCA-EU 22 21921148 21921148 single base substitution G A upstream_gene_variant BRCA-EU 22 21923091 21923091 single base substitution G C intron_variant BRCA-EU 22 21923541 21923541 single base substitution T A intron_variant BRCA-EU 22 21925314 21925314 single base substitution T C intron_variant BRCA-EU 22 21925338 21925338 single base substitution C G intron_variant BRCA-EU 22 21929659 21929659 single base substitution G C intron_variant BRCA-EU 22 21930455 21930455 single base substitution G A intron_variant BRCA-EU 22 21931014 21931014 single base substitution C T intron_variant BRCA-EU 22 21933044 21933044 single base substitution G T intron_variant BRCA-EU 22 21935909 21935909 single base substitution G T intron_variant BRCA-EU 22 21936310 21936310 single base substitution G T intron_variant BRCA-EU 22 21936566 21936566 single base substitution G C intron_variant BRCA-EU 22 21938565 21938565 single base substitution C G intron_variant BRCA-EU 22 21939474 21939474 single base substitution C T intron_variant BRCA-EU 22 21941805 21941805 single base substitution A T intron_variant BRCA-EU 22 21941812 21941812 single base substitution C T intron_variant BRCA-EU 22 21943410 21943410 single base substitution C G intron_variant BRCA-EU 22 21945007 21945007 single base substitution G A intron_variant BRCA-EU 22 21945811 21945811 single base substitution C T intron_variant BRCA-EU 22 21947314 21947314 single base substitution T C intron_variant BRCA-EU 22 21949147 21949147 single base substitution C G intron_variant BRCA-EU 22 21950164 21950164 deletion of <=200bp T - intron_variant BRCA-EU 22 21951248 21951248 single base substitution T G intron_variant BRCA-EU 22 21954202 21954202 single base substitution C T intron_variant BRCA-EU 22 21954411 21954411 single base substitution T A intron_variant BRCA-EU 22 21954985 21954985 deletion of <=200bp A - intron_variant BRCA-EU 22 21957624 21957624 single base substitution C G intron_variant BRCA-EU 22 21957791 21957791 single base substitution C T intron_variant BRCA-EU 22 21959605 21959605 single base substitution C T intron_variant BRCA-EU 22 21959699 21959699 single base substitution A G intron_variant BRCA-EU 22 21960497 21960497 single base substitution G A intron_variant BRCA-EU 22 21962776 21962776 single base substitution A G intron_variant BRCA-EU 22 21963209 21963209 single base substitution A G intron_variant BRCA-EU 22 21965316 21965316 single base substitution A G exon_variant BRCA-EU 22 21965316 21965316 single base substitution A G synonymous_variant A156A 468A>G BRCA-EU 22 21965316 21965316 single base substitution A G synonymous_variant A66A 198A>G BRCA-EU 22 21965316 21965316 single base substitution A G synonymous_variant A98A 294A>G BRCA-EU 22 21965485 21965485 single base substitution T G intron_variant BRCA-EU 22 21966540 21966540 single base substitution T G intron_variant BRCA-EU 22 21966731 21966731 single base substitution C T intron_variant BRCA-EU 22 21966783 21966783 single base substitution T G intron_variant BRCA-EU 22 21969264 21969264 single base substitution G A intron_variant BRCA-EU 22 21969339 21969339 single base substitution G C intron_variant BRCA-EU 22 21971499 21971499 single base substitution G C intron_variant BRCA-EU 22 21971928 21971928 single base substitution G C intron_variant BRCA-EU 22 21972869 21972869 single base substitution A T intron_variant BRCA-EU 22 21973350 21973350 single base substitution C T intron_variant BRCA-EU 22 21974103 21974103 single base substitution C G intron_variant BRCA-EU 22 21974543 21974543 single base substitution C G intron_variant BRCA-EU 22 21974954 21974954 single base substitution G A intron_variant BRCA-EU 22 21976758 21976758 single base substitution C G 3_prime_UTR_variant BRCA-EU 22 21976758 21976758 single base substitution C G downstream_gene_variant BRCA-EU 22 21976758 21976758 single base substitution C G exon_variant BRCA-EU 22 21977833 21977833 single base substitution G C 3_prime_UTR_variant BRCA-EU 22 21977833 21977833 single base substitution G C downstream_gene_variant BRCA-EU 22 21977833 21977833 single base substitution G C exon_variant BRCA-EU 22 21978970 21978970 insertion of <=200bp - CTAG downstream_gene_variant BRCA-EU 22 21979481 21979481 single base substitution G A downstream_gene_variant BRCA-EU 22 21983207 21983207 single base substitution C T downstream_gene_variant BRCA-FR 22 21906477 21906477 single base substitution C T intron_variant BRCA-FR 22 21909588 21909588 single base substitution T G intron_variant BRCA-FR 22 21912904 21912904 single base substitution G C intron_variant BRCA-FR 22 21913657 21913657 single base substitution T C intron_variant BRCA-FR 22 21915051 21915051 single base substitution C T intron_variant BRCA-FR 22 21916231 21916231 single base substitution C G intron_variant BRCA-FR 22 21918519 21918519 single base substitution C G intron_variant BRCA-FR 22 21918519 21918519 single base substitution C G upstream_gene_variant BRCA-FR 22 21919284 21919284 single base substitution C A intron_variant BRCA-FR 22 21919284 21919284 single base substitution C A upstream_gene_variant BRCA-FR 22 21921148 21921148 single base substitution G A intron_variant BRCA-FR 22 21921148 21921148 single base substitution G A upstream_gene_variant BRCA-FR 22 21931985 21931985 single base substitution C G intron_variant BRCA-FR 22 21939474 21939474 single base substitution C T intron_variant BRCA-FR 22 21945811 21945811 single base substitution C T intron_variant BRCA-FR 22 21954202 21954202 single base substitution C T intron_variant BRCA-FR 22 21954503 21954503 single base substitution C T intron_variant BRCA-FR 22 21955098 21955098 single base substitution G A intron_variant BRCA-FR 22 21968614 21968614 single base substitution C G intron_variant BRCA-FR 22 21970560 21970560 single base substitution G A intron_variant BRCA-FR 22 21976758 21976758 single base substitution C G 3_prime_UTR_variant BRCA-FR 22 21976758 21976758 single base substitution C G downstream_gene_variant BRCA-FR 22 21976758 21976758 single base substitution C G exon_variant BRCA-UK 22 21967507 21967507 single base substitution C G intron_variant BRCA-US 22 21922054 21922054 single base substitution G T exon_variant BRCA-US 22 21922054 21922054 single base substitution G T intron_variant BRCA-US 22 21922054 21922054 single base substitution G T synonymous_variant L7L 21G>T BRCA-US 22 21947188 21947188 single base substitution C A exon_variant BRCA-US 22 21947188 21947188 single base substitution C A intron_variant BRCA-US 22 21947188 21947188 single base substitution C A missense_variant F22L 66C>A BRCA-US 22 21947188 21947188 single base substitution C A missense_variant F80L 240C>A BRCA-US 22 21982871 21982871 single base substitution G A downstream_gene_variant BTCA-JP 22 21982713 21982713 single base substitution T C downstream_gene_variant CLLE-ES 22 21910567 21910567 single base substitution C T intron_variant CLLE-ES 22 21920808 21920808 single base substitution G A intron_variant CLLE-ES 22 21920808 21920808 single base substitution G A upstream_gene_variant CLLE-ES 22 21959736 21959736 single base substitution G A intron_variant CLLE-ES 22 21974527 21974527 single base substitution A G intron_variant CLLE-ES 22 21982682 21982682 single base substitution T A downstream_gene_variant COAD-US 22 21903306 21903306 insertion of <=200bp - GG upstream_gene_variant COAD-US 22 21947219 21947219 single base substitution T A exon_variant COAD-US 22 21947219 21947219 single base substitution T A intron_variant COAD-US 22 21947219 21947219 single base substitution T A missense_variant L33M 97T>A COAD-US 22 21947219 21947219 single base substitution T A missense_variant L91M 271T>A COAD-US 22 21947227 21947227 single base substitution G A exon_variant COAD-US 22 21947227 21947227 single base substitution G A intron_variant COAD-US 22 21947227 21947227 single base substitution G A stop_gained W35* 105G>A COAD-US 22 21947227 21947227 single base substitution G A stop_gained W93* 279G>A COAD-US 22 21982892 21982892 single base substitution C T downstream_gene_variant COCA-CN 22 21968724 21968724 single base substitution A G intron_variant COCA-CN 22 21982870 21982870 single base substitution C T downstream_gene_variant COCA-CN 22 21983259 21983259 single base substitution C T downstream_gene_variant EOPC-DE 22 21934661 21934661 single base substitution C T intron_variant ESAD-UK 22 21909925 21909925 single base substitution A T intron_variant ESAD-UK 22 21910231 21910231 single base substitution A G intron_variant ESAD-UK 22 21910506 21910506 single base substitution T C intron_variant ESAD-UK 22 21911075 21911075 single base substitution G A intron_variant ESAD-UK 22 21911300 21911300 single base substitution G A intron_variant ESAD-UK 22 21915881 21915881 deletion of <=200bp G - intron_variant ESAD-UK 22 21917307 21917307 single base substitution C T intron_variant ESAD-UK 22 21917307 21917307 single base substitution C T upstream_gene_variant ESAD-UK 22 21917634 21917634 single base substitution A T intron_variant ESAD-UK 22 21917634 21917634 single base substitution A T upstream_gene_variant ESAD-UK 22 21929335 21929335 single base substitution C T intron_variant ESAD-UK 22 21929504 21929504 single base substitution T C intron_variant ESAD-UK 22 21933250 21933250 single base substitution T C intron_variant ESAD-UK 22 21934439 21934439 single base substitution C G intron_variant ESAD-UK 22 21936436 21936436 single base substitution A C intron_variant ESAD-UK 22 21936939 21936939 single base substitution C T intron_variant ESAD-UK 22 21938334 21938334 single base substitution T G intron_variant ESAD-UK 22 21939342 21939342 single base substitution A G intron_variant ESAD-UK 22 21941878 21941878 single base substitution A T intron_variant ESAD-UK 22 21944042 21944042 single base substitution T G intron_variant ESAD-UK 22 21947496 21947496 single base substitution G T intron_variant ESAD-UK 22 21947766 21947766 single base substitution G A intron_variant ESAD-UK 22 21948320 21948320 single base substitution G T intron_variant ESAD-UK 22 21949957 21949957 deletion of <=200bp T - intron_variant ESAD-UK 22 21951870 21951870 single base substitution A G intron_variant ESAD-UK 22 21952871 21952871 single base substitution G C intron_variant ESAD-UK 22 21955417 21955417 single base substitution G A intron_variant ESAD-UK 22 21958304 21958304 single base substitution A G intron_variant ESAD-UK 22 21958887 21958887 single base substitution T A intron_variant ESAD-UK 22 21959494 21959494 insertion of <=200bp - T intron_variant ESAD-UK 22 21962758 21962758 single base substitution G A intron_variant ESAD-UK 22 21962766 21962766 single base substitution G A intron_variant ESAD-UK 22 21965895 21965895 single base substitution G A intron_variant ESAD-UK 22 21967233 21967233 single base substitution T A intron_variant ESAD-UK 22 21972401 21972401 single base substitution T G intron_variant ESAD-UK 22 21975120 21975120 single base substitution A T intron_variant ESAD-UK 22 21975626 21975626 single base substitution G C intron_variant ESAD-UK 22 21976991 21976991 single base substitution C T 3_prime_UTR_variant ESAD-UK 22 21976991 21976991 single base substitution C T downstream_gene_variant ESAD-UK 22 21976991 21976991 single base substitution C T exon_variant ESCA-CN 22 21965326 21965326 single base substitution G A exon_variant ESCA-CN 22 21965326 21965326 single base substitution G A missense_variant D102N 304G>A ESCA-CN 22 21965326 21965326 single base substitution G A missense_variant D160N 478G>A ESCA-CN 22 21965326 21965326 single base substitution G A missense_variant D70N 208G>A KIRC-US 22 21968852 21968852 single base substitution C T intron_variant KIRP-US 22 21975858 21975858 single base substitution G C exon_variant KIRP-US 22 21975858 21975858 single base substitution G C missense_variant R122P 365G>C KIRP-US 22 21975858 21975858 single base substitution G C missense_variant R180P 539G>C KIRP-US 22 21975858 21975858 single base substitution G C missense_variant R90P 269G>C LAML-KR 22 21900729 21900729 single base substitution G A upstream_gene_variant LAML-KR 22 21901449 21901449 single base substitution T C upstream_gene_variant LAML-KR 22 21901478 21901478 single base substitution T G upstream_gene_variant LAML-KR 22 21903267 21903267 single base substitution C G upstream_gene_variant LAML-KR 22 21904072 21904072 single base substitution G A intron_variant LAML-KR 22 21904490 21904490 single base substitution C T intron_variant LAML-KR 22 21904683 21904683 single base substitution C T intron_variant LAML-KR 22 21908528 21908528 single base substitution G A intron_variant LAML-KR 22 21914280 21914280 single base substitution C T intron_variant LAML-KR 22 21916224 21916224 single base substitution T C intron_variant LAML-KR 22 21917493 21917493 single base substitution T A intron_variant LAML-KR 22 21917493 21917493 single base substitution T A upstream_gene_variant LAML-KR 22 21972462 21972462 single base substitution G T intron_variant LAML-KR 22 21980078 21980078 single base substitution T G downstream_gene_variant LAML-KR 22 21982892 21982892 single base substitution C T downstream_gene_variant LICA-FR 22 21906725 21906725 single base substitution A C intron_variant LICA-FR 22 21912995 21912995 single base substitution T C intron_variant LICA-FR 22 21938756 21938756 single base substitution A T intron_variant LICA-FR 22 21948695 21948695 single base substitution A T intron_variant LICA-FR 22 21971368 21971368 single base substitution G A intron_variant LIHC-US 22 21922044 21922044 single base substitution G T exon_variant LIHC-US 22 21922044 21922044 single base substitution G T intron_variant LIHC-US 22 21922044 21922044 single base substitution G T missense_variant S4I 11G>T LINC-JP 22 21921115 21921115 single base substitution C A intron_variant LINC-JP 22 21921115 21921115 single base substitution C A upstream_gene_variant LINC-JP 22 21922042 21922042 insertion of <=200bp - CAG exon_variant LINC-JP 22 21922042 21922042 insertion of <=200bp - CAG inframe_insertion A3AS LINC-JP 22 21922042 21922042 insertion of <=200bp - CAG intron_variant LINC-JP 22 21924593 21924593 single base substitution A G intron_variant LINC-JP 22 21940668 21940668 single base substitution C G intron_variant LINC-JP 22 21950452 21950452 single base substitution T C intron_variant LINC-JP 22 21953840 21953840 single base substitution A G intron_variant LINC-JP 22 21978513 21978513 deletion of <=200bp C - downstream_gene_variant LIRI-JP 22 21910538 21910538 single base substitution G T intron_variant LIRI-JP 22 21910720 21910720 single base substitution T C intron_variant LIRI-JP 22 21924143 21924143 single base substitution A T intron_variant LIRI-JP 22 21924385 21924385 single base substitution G A intron_variant LIRI-JP 22 21926821 21926821 single base substitution A G intron_variant LIRI-JP 22 21930283 21930283 single base substitution T G intron_variant LIRI-JP 22 21932866 21932866 single base substitution A G intron_variant LIRI-JP 22 21934195 21934195 single base substitution G C intron_variant LIRI-JP 22 21934429 21934429 single base substitution C G intron_variant LIRI-JP 22 21935033 21935033 single base substitution G A intron_variant LIRI-JP 22 21938816 21938816 single base substitution A G intron_variant LIRI-JP 22 21939131 21939131 single base substitution C G intron_variant LIRI-JP 22 21939204 21939204 single base substitution C A intron_variant LIRI-JP 22 21944631 21944631 single base substitution C T intron_variant LIRI-JP 22 21947336 21947336 single base substitution C G intron_variant LIRI-JP 22 21947435 21947435 single base substitution C T intron_variant LIRI-JP 22 21948320 21948320 single base substitution G A intron_variant LIRI-JP 22 21948910 21948910 single base substitution A G intron_variant LIRI-JP 22 21950355 21950355 single base substitution A G intron_variant LIRI-JP 22 21951386 21951386 single base substitution G A intron_variant LIRI-JP 22 21954025 21954025 single base substitution G T intron_variant LIRI-JP 22 21955312 21955312 single base substitution T A intron_variant LIRI-JP 22 21955939 21955939 single base substitution C G intron_variant LIRI-JP 22 21959737 21959737 single base substitution A G intron_variant LIRI-JP 22 21961296 21961296 single base substitution C G intron_variant LIRI-JP 22 21963106 21963106 single base substitution A G intron_variant LIRI-JP 22 21966214 21966214 single base substitution C T intron_variant LIRI-JP 22 21966289 21966289 single base substitution G T intron_variant LIRI-JP 22 21966656 21966656 single base substitution C A intron_variant LIRI-JP 22 21967563 21967563 single base substitution A G intron_variant LIRI-JP 22 21970137 21970137 single base substitution A C intron_variant LIRI-JP 22 21973961 21973961 single base substitution C T intron_variant LIRI-JP 22 21977150 21977150 single base substitution A G 3_prime_UTR_variant LIRI-JP 22 21977150 21977150 single base substitution A G downstream_gene_variant LIRI-JP 22 21977150 21977150 single base substitution A G exon_variant LIRI-JP 22 21977724 21977724 single base substitution A G 3_prime_UTR_variant LIRI-JP 22 21977724 21977724 single base substitution A G downstream_gene_variant LIRI-JP 22 21977724 21977724 single base substitution A G exon_variant LIRI-JP 22 21979750 21979750 single base substitution C T downstream_gene_variant LIRI-JP 22 21981577 21981577 single base substitution T C downstream_gene_variant LIRI-JP 22 21981949 21981949 single base substitution T A downstream_gene_variant LIRI-JP 22 21981987 21981987 single base substitution T G downstream_gene_variant LUSC-KR 22 21899212 21899212 single base substitution G C upstream_gene_variant LUSC-KR 22 21899810 21899810 single base substitution C G upstream_gene_variant LUSC-KR 22 21901449 21901449 single base substitution T C upstream_gene_variant LUSC-KR 22 21901478 21901478 single base substitution T G upstream_gene_variant LUSC-KR 22 21904072 21904072 single base substitution G A intron_variant LUSC-KR 22 21908508 21908508 single base substitution T G intron_variant LUSC-KR 22 21908528 21908528 single base substitution G A intron_variant LUSC-KR 22 21908927 21908927 single base substitution C G intron_variant LUSC-KR 22 21910057 21910057 single base substitution T C intron_variant LUSC-KR 22 21911830 21911830 single base substitution G T intron_variant LUSC-KR 22 21911832 21911832 single base substitution G A intron_variant LUSC-KR 22 21914561 21914561 single base substitution C G intron_variant LUSC-KR 22 21914644 21914644 single base substitution A G intron_variant LUSC-KR 22 21916163 21916163 single base substitution C T intron_variant LUSC-KR 22 21916224 21916224 single base substitution T C intron_variant LUSC-KR 22 21916679 21916679 single base substitution G T intron_variant LUSC-KR 22 21918020 21918020 single base substitution C T intron_variant LUSC-KR 22 21918020 21918020 single base substitution C T upstream_gene_variant LUSC-KR 22 21918047 21918047 single base substitution G C intron_variant LUSC-KR 22 21918047 21918047 single base substitution G C upstream_gene_variant LUSC-KR 22 21918343 21918343 single base substitution G T intron_variant LUSC-KR 22 21918343 21918343 single base substitution G T upstream_gene_variant LUSC-KR 22 21918406 21918406 single base substitution T A intron_variant LUSC-KR 22 21918406 21918406 single base substitution T A upstream_gene_variant LUSC-KR 22 21920481 21920481 single base substitution C G intron_variant LUSC-KR 22 21920481 21920481 single base substitution C G upstream_gene_variant LUSC-KR 22 21920531 21920531 single base substitution G T intron_variant LUSC-KR 22 21920531 21920531 single base substitution G T upstream_gene_variant LUSC-KR 22 21935362 21935362 single base substitution G T intron_variant LUSC-KR 22 21942357 21942357 single base substitution C G intron_variant LUSC-KR 22 21946775 21946775 single base substitution A G intron_variant LUSC-KR 22 21949487 21949487 single base substitution G T intron_variant LUSC-KR 22 21964012 21964012 single base substitution A T intron_variant LUSC-KR 22 21964833 21964833 single base substitution G T intron_variant LUSC-KR 22 21967477 21967477 single base substitution C T intron_variant LUSC-KR 22 21971516 21971516 single base substitution A T intron_variant LUSC-KR 22 21971586 21971586 single base substitution C T intron_variant LUSC-KR 22 21972059 21972059 single base substitution C G intron_variant LUSC-KR 22 21976051 21976051 single base substitution C T 3_prime_UTR_variant LUSC-KR 22 21976051 21976051 single base substitution C T exon_variant LUSC-KR 22 21976934 21976934 single base substitution T C 3_prime_UTR_variant LUSC-KR 22 21976934 21976934 single base substitution T C downstream_gene_variant LUSC-KR 22 21976934 21976934 single base substitution T C exon_variant LUSC-KR 22 21977047 21977047 single base substitution C T 3_prime_UTR_variant LUSC-KR 22 21977047 21977047 single base substitution C T downstream_gene_variant LUSC-KR 22 21977047 21977047 single base substitution C T exon_variant LUSC-KR 22 21978497 21978497 single base substitution G C downstream_gene_variant LUSC-KR 22 21982327 21982327 single base substitution C A downstream_gene_variant LUSC-KR 22 21982340 21982340 single base substitution C G downstream_gene_variant LUSC-KR 22 21982892 21982892 single base substitution C T downstream_gene_variant MALY-DE 22 21911807 21911807 single base substitution C T intron_variant MALY-DE 22 21919382 21919382 single base substitution C A intron_variant MALY-DE 22 21919382 21919382 single base substitution C A upstream_gene_variant MALY-DE 22 21924120 21924120 single base substitution C A intron_variant MALY-DE 22 21931053 21931053 single base substitution C A intron_variant MALY-DE 22 21932102 21932102 single base substitution A G intron_variant MALY-DE 22 21933547 21933547 single base substitution C G intron_variant MALY-DE 22 21950675 21950675 single base substitution T C intron_variant MALY-DE 22 21951666 21951666 single base substitution G A intron_variant MALY-DE 22 21959424 21959424 single base substitution A G intron_variant MALY-DE 22 21964658 21964658 single base substitution G A intron_variant MALY-DE 22 21974218 21974218 single base substitution T G intron_variant MALY-DE 22 21976516 21976516 single base substitution A C 3_prime_UTR_variant MALY-DE 22 21976516 21976516 single base substitution A C exon_variant MELA-AU 22 21899198 21899198 single base substitution C A upstream_gene_variant MELA-AU 22 21899867 21899867 single base substitution G A upstream_gene_variant MELA-AU 22 21909968 21909968 single base substitution C T intron_variant MELA-AU 22 21909969 21909969 single base substitution C T intron_variant MELA-AU 22 21909997 21909997 single base substitution G A intron_variant MELA-AU 22 21910018 21910018 single base substitution C T intron_variant MELA-AU 22 21910048 21910048 single base substitution C T intron_variant MELA-AU 22 21910175 21910175 single base substitution C T intron_variant MELA-AU 22 21910206 21910206 single base substitution G A intron_variant MELA-AU 22 21910214 21910214 single base substitution C T intron_variant MELA-AU 22 21910230 21910230 single base substitution T G intron_variant MELA-AU 22 21910459 21910459 single base substitution G A intron_variant MELA-AU 22 21910507 21910507 single base substitution G A intron_variant MELA-AU 22 21910814 21910814 single base substitution A G intron_variant MELA-AU 22 21910862 21910862 single base substitution G A intron_variant MELA-AU 22 21910965 21910965 single base substitution G T intron_variant MELA-AU 22 21911140 21911140 single base substitution C T intron_variant MELA-AU 22 21911145 21911145 single base substitution C T intron_variant MELA-AU 22 21911251 21911251 single base substitution G A intron_variant MELA-AU 22 21911508 21911508 single base substitution T C intron_variant MELA-AU 22 21911591 21911591 single base substitution G A intron_variant MELA-AU 22 21911672 21911672 single base substitution G A intron_variant MELA-AU 22 21911858 21911858 single base substitution C T intron_variant MELA-AU 22 21912032 21912032 single base substitution G A intron_variant MELA-AU 22 21912145 21912145 single base substitution G A intron_variant MELA-AU 22 21912644 21912644 single base substitution G A intron_variant MELA-AU 22 21912717 21912717 single base substitution C T intron_variant MELA-AU 22 21912969 21912969 single base substitution G A intron_variant MELA-AU 22 21913464 21913464 single base substitution C G intron_variant MELA-AU 22 21913520 21913521 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 21913545 21913545 single base substitution G A intron_variant MELA-AU 22 21913570 21913570 single base substitution G A intron_variant MELA-AU 22 21914094 21914094 single base substitution G A intron_variant MELA-AU 22 21914129 21914129 single base substitution G T intron_variant MELA-AU 22 21914154 21914154 single base substitution G A intron_variant MELA-AU 22 21914205 21914205 single base substitution C T intron_variant MELA-AU 22 21915499 21915499 single base substitution G A intron_variant MELA-AU 22 21915580 21915580 single base substitution C T intron_variant MELA-AU 22 21915665 21915665 single base substitution G A intron_variant MELA-AU 22 21916575 21916575 single base substitution C T intron_variant MELA-AU 22 21917006 21917006 single base substitution C T intron_variant MELA-AU 22 21917006 21917006 single base substitution C T upstream_gene_variant MELA-AU 22 21917056 21917056 single base substitution G A intron_variant MELA-AU 22 21917056 21917056 single base substitution G A upstream_gene_variant MELA-AU 22 21917245 21917245 single base substitution A C intron_variant MELA-AU 22 21917245 21917245 single base substitution A C upstream_gene_variant MELA-AU 22 21917322 21917322 single base substitution G A intron_variant MELA-AU 22 21917322 21917322 single base substitution G A upstream_gene_variant MELA-AU 22 21917329 21917329 single base substitution G A intron_variant MELA-AU 22 21917329 21917329 single base substitution G A upstream_gene_variant MELA-AU 22 21917623 21917623 single base substitution G A intron_variant MELA-AU 22 21917623 21917623 single base substitution G A upstream_gene_variant MELA-AU 22 21917843 21917843 single base substitution C T intron_variant MELA-AU 22 21917843 21917843 single base substitution C T upstream_gene_variant MELA-AU 22 21917957 21917957 single base substitution C T intron_variant MELA-AU 22 21917957 21917957 single base substitution C T upstream_gene_variant MELA-AU 22 21918730 21918730 single base substitution G A intron_variant MELA-AU 22 21918730 21918730 single base substitution G A upstream_gene_variant MELA-AU 22 21919045 21919045 single base substitution C T intron_variant MELA-AU 22 21919045 21919045 single base substitution C T upstream_gene_variant MELA-AU 22 21919088 21919088 single base substitution G A intron_variant MELA-AU 22 21919088 21919088 single base substitution G A upstream_gene_variant MELA-AU 22 21919265 21919265 single base substitution G A intron_variant MELA-AU 22 21919265 21919265 single base substitution G A upstream_gene_variant MELA-AU 22 21919616 21919616 single base substitution C T intron_variant MELA-AU 22 21919616 21919616 single base substitution C T upstream_gene_variant MELA-AU 22 21919651 21919651 single base substitution G A intron_variant MELA-AU 22 21919651 21919651 single base substitution G A upstream_gene_variant MELA-AU 22 21919697 21919697 single base substitution C T intron_variant MELA-AU 22 21919697 21919697 single base substitution C T upstream_gene_variant MELA-AU 22 21920246 21920246 single base substitution C T intron_variant MELA-AU 22 21920246 21920246 single base substitution C T upstream_gene_variant MELA-AU 22 21920621 21920621 single base substitution C T intron_variant MELA-AU 22 21920621 21920621 single base substitution C T upstream_gene_variant MELA-AU 22 21921133 21921133 single base substitution C T intron_variant MELA-AU 22 21921133 21921133 single base substitution C T upstream_gene_variant MELA-AU 22 21921563 21921563 single base substitution C T intron_variant MELA-AU 22 21921563 21921563 single base substitution C T upstream_gene_variant MELA-AU 22 21921973 21921974 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 22 21921973 21921974 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 21921973 21921974 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 21921985 21921985 single base substitution C T 5_prime_UTR_variant MELA-AU 22 21921985 21921985 single base substitution C T intron_variant MELA-AU 22 21921985 21921985 single base substitution C T upstream_gene_variant MELA-AU 22 21922161 21922161 single base substitution C T exon_variant MELA-AU 22 21922161 21922161 single base substitution C T intron_variant MELA-AU 22 21923955 21923955 single base substitution C T intron_variant MELA-AU 22 21924939 21924939 single base substitution A G intron_variant MELA-AU 22 21925164 21925164 single base substitution C T intron_variant MELA-AU 22 21925302 21925302 single base substitution G A intron_variant MELA-AU 22 21925606 21925606 single base substitution G A intron_variant MELA-AU 22 21925649 21925649 single base substitution G A intron_variant MELA-AU 22 21926447 21926447 single base substitution G A intron_variant MELA-AU 22 21926650 21926650 single base substitution G A intron_variant MELA-AU 22 21927032 21927032 single base substitution C A intron_variant MELA-AU 22 21927530 21927530 single base substitution G C intron_variant MELA-AU 22 21927584 21927584 single base substitution C A intron_variant MELA-AU 22 21927974 21927974 single base substitution C T intron_variant MELA-AU 22 21928164 21928164 single base substitution C T intron_variant MELA-AU 22 21929251 21929251 single base substitution C T intron_variant MELA-AU 22 21929730 21929730 single base substitution C T intron_variant MELA-AU 22 21930434 21930434 single base substitution C T intron_variant MELA-AU 22 21930876 21930876 single base substitution C T intron_variant MELA-AU 22 21930928 21930928 single base substitution T C intron_variant MELA-AU 22 21930949 21930950 multiple base substitution (>=2bp and <=200bp) TC CA intron_variant MELA-AU 22 21931166 21931166 single base substitution C T intron_variant MELA-AU 22 21931904 21931904 single base substitution C T intron_variant MELA-AU 22 21932283 21932283 single base substitution G A intron_variant MELA-AU 22 21934007 21934007 single base substitution C T intron_variant MELA-AU 22 21934983 21934983 single base substitution C T intron_variant MELA-AU 22 21935579 21935579 single base substitution C T intron_variant MELA-AU 22 21936365 21936365 single base substitution C T intron_variant MELA-AU 22 21938010 21938010 single base substitution C T intron_variant MELA-AU 22 21938167 21938167 single base substitution A T intron_variant MELA-AU 22 21938213 21938213 single base substitution G A intron_variant MELA-AU 22 21938590 21938590 single base substitution C T intron_variant MELA-AU 22 21939133 21939133 single base substitution C T intron_variant MELA-AU 22 21939298 21939298 single base substitution C T intron_variant MELA-AU 22 21940416 21940416 single base substitution G A intron_variant MELA-AU 22 21940678 21940678 single base substitution C T intron_variant MELA-AU 22 21941199 21941199 single base substitution C T intron_variant MELA-AU 22 21942150 21942150 single base substitution C T intron_variant MELA-AU 22 21942918 21942918 single base substitution A G intron_variant MELA-AU 22 21943661 21943661 single base substitution C T intron_variant MELA-AU 22 21944504 21944504 single base substitution G A intron_variant MELA-AU 22 21944590 21944590 single base substitution G A intron_variant MELA-AU 22 21944711 21944711 single base substitution T A intron_variant MELA-AU 22 21945757 21945757 single base substitution C T intron_variant MELA-AU 22 21946486 21946486 single base substitution C T intron_variant MELA-AU 22 21946898 21946898 single base substitution C T intron_variant MELA-AU 22 21947112 21947112 single base substitution C T intron_variant MELA-AU 22 21947269 21947270 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 21947578 21947578 single base substitution C T intron_variant MELA-AU 22 21947708 21947708 single base substitution G C intron_variant MELA-AU 22 21948210 21948210 single base substitution G A intron_variant MELA-AU 22 21948312 21948312 single base substitution C T intron_variant MELA-AU 22 21948646 21948646 single base substitution C T intron_variant MELA-AU 22 21948757 21948757 single base substitution C T intron_variant MELA-AU 22 21948962 21948962 single base substitution C T intron_variant MELA-AU 22 21949444 21949444 single base substitution C T intron_variant MELA-AU 22 21950523 21950523 single base substitution G A intron_variant MELA-AU 22 21951049 21951049 single base substitution T A intron_variant MELA-AU 22 21951515 21951515 single base substitution C T intron_variant MELA-AU 22 21951792 21951793 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 21952109 21952109 single base substitution C T intron_variant MELA-AU 22 21953282 21953282 single base substitution C T intron_variant MELA-AU 22 21953437 21953437 single base substitution T G intron_variant MELA-AU 22 21953613 21953613 single base substitution T A intron_variant MELA-AU 22 21953615 21953615 single base substitution C T intron_variant MELA-AU 22 21954277 21954277 single base substitution G A intron_variant MELA-AU 22 21954289 21954289 single base substitution T G intron_variant MELA-AU 22 21954484 21954484 single base substitution C T intron_variant MELA-AU 22 21955436 21955437 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 21955640 21955641 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 21956372 21956372 single base substitution G C intron_variant MELA-AU 22 21956698 21956698 single base substitution C T intron_variant MELA-AU 22 21957110 21957110 single base substitution C T intron_variant MELA-AU 22 21957118 21957118 single base substitution C T intron_variant MELA-AU 22 21957513 21957513 single base substitution C T intron_variant MELA-AU 22 21957812 21957812 single base substitution C T intron_variant MELA-AU 22 21959241 21959241 single base substitution C A intron_variant MELA-AU 22 21959438 21959438 single base substitution T C intron_variant MELA-AU 22 21959806 21959806 single base substitution C T intron_variant MELA-AU 22 21961061 21961061 single base substitution C T intron_variant MELA-AU 22 21961566 21961566 single base substitution C T intron_variant MELA-AU 22 21962469 21962469 single base substitution C T intron_variant MELA-AU 22 21962527 21962527 single base substitution C T intron_variant MELA-AU 22 21962630 21962630 single base substitution C T intron_variant MELA-AU 22 21964198 21964198 single base substitution C T intron_variant MELA-AU 22 21965042 21965042 single base substitution C T intron_variant MELA-AU 22 21965181 21965181 single base substitution C T exon_variant MELA-AU 22 21965181 21965181 single base substitution C T synonymous_variant I111I 333C>T MELA-AU 22 21965181 21965181 single base substitution C T synonymous_variant I21I 63C>T MELA-AU 22 21965181 21965181 single base substitution C T synonymous_variant I53I 159C>T MELA-AU 22 21965464 21965464 single base substitution G A intron_variant MELA-AU 22 21965527 21965527 single base substitution C T intron_variant MELA-AU 22 21966493 21966493 single base substitution G A intron_variant MELA-AU 22 21966706 21966707 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 21967011 21967011 single base substitution T C intron_variant MELA-AU 22 21967296 21967296 single base substitution C T intron_variant MELA-AU 22 21967414 21967414 single base substitution G T intron_variant MELA-AU 22 21968029 21968029 single base substitution C T intron_variant MELA-AU 22 21968274 21968274 single base substitution G A intron_variant MELA-AU 22 21968302 21968302 single base substitution G A intron_variant MELA-AU 22 21968432 21968432 single base substitution C T intron_variant MELA-AU 22 21968438 21968438 single base substitution C T intron_variant MELA-AU 22 21968546 21968546 single base substitution C T intron_variant MELA-AU 22 21968706 21968707 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 21968896 21968896 deletion of <=200bp C - intron_variant MELA-AU 22 21969890 21969890 single base substitution C T intron_variant MELA-AU 22 21970633 21970633 single base substitution C T intron_variant MELA-AU 22 21970946 21970946 single base substitution C T intron_variant MELA-AU 22 21970984 21970984 single base substitution G A intron_variant MELA-AU 22 21972255 21972255 single base substitution G A intron_variant MELA-AU 22 21972848 21972848 single base substitution G A intron_variant MELA-AU 22 21973989 21973989 single base substitution A G intron_variant MELA-AU 22 21975007 21975008 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 21975467 21975467 deletion of <=200bp C - intron_variant MELA-AU 22 21975514 21975514 single base substitution C T intron_variant MELA-AU 22 21975721 21975721 deletion of <=200bp T - intron_variant MELA-AU 22 21977394 21977394 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21977394 21977394 single base substitution C T downstream_gene_variant MELA-AU 22 21977394 21977394 single base substitution C T exon_variant MELA-AU 22 21978075 21978075 single base substitution C T 3_prime_UTR_variant MELA-AU 22 21978075 21978075 single base substitution C T downstream_gene_variant MELA-AU 22 21978075 21978075 single base substitution C T exon_variant MELA-AU 22 21978348 21978348 single base substitution C T downstream_gene_variant MELA-AU 22 21978469 21978469 single base substitution A C downstream_gene_variant MELA-AU 22 21980589 21980589 single base substitution G T downstream_gene_variant MELA-AU 22 21981535 21981535 single base substitution G A downstream_gene_variant MELA-AU 22 21981746 21981746 single base substitution C T downstream_gene_variant MELA-AU 22 21982771 21982771 single base substitution C T downstream_gene_variant ORCA-IN 22 21909770 21909770 single base substitution A G intron_variant ORCA-IN 22 21910523 21910523 single base substitution A C intron_variant ORCA-IN 22 21910918 21910918 deletion of <=200bp A - intron_variant ORCA-IN 22 21915881 21915881 deletion of <=200bp G - intron_variant ORCA-IN 22 21921455 21921456 deletion of <=200bp TT - intron_variant ORCA-IN 22 21921455 21921456 deletion of <=200bp TT - upstream_gene_variant ORCA-IN 22 21945803 21945803 single base substitution C T intron_variant ORCA-IN 22 21967569 21967569 single base substitution G T intron_variant OV-AU 22 21911352 21911352 single base substitution A G intron_variant OV-AU 22 21911361 21911361 single base substitution A T intron_variant OV-AU 22 21915520 21915520 single base substitution C A intron_variant OV-AU 22 21923222 21923222 single base substitution G C intron_variant OV-AU 22 21923960 21923960 single base substitution G C intron_variant OV-AU 22 21924910 21924910 single base substitution G A intron_variant OV-AU 22 21925173 21925173 single base substitution G C intron_variant OV-AU 22 21925514 21925514 single base substitution G C intron_variant OV-AU 22 21926616 21926616 single base substitution C T intron_variant OV-AU 22 21929379 21929379 single base substitution C G intron_variant OV-AU 22 21932442 21932442 single base substitution C G intron_variant OV-AU 22 21933235 21933235 single base substitution G C intron_variant OV-AU 22 21934541 21934541 single base substitution G C intron_variant OV-AU 22 21942756 21942756 single base substitution T C intron_variant OV-AU 22 21957519 21957519 single base substitution T G intron_variant OV-AU 22 21959483 21959483 single base substitution G A intron_variant OV-AU 22 21959802 21959802 single base substitution T G intron_variant OV-AU 22 21979632 21979632 single base substitution C A downstream_gene_variant PACA-AU 22 21910494 21910494 single base substitution T G intron_variant PACA-AU 22 21912932 21912932 single base substitution A C intron_variant PACA-AU 22 21929366 21929366 single base substitution T C intron_variant PACA-AU 22 21931997 21931997 single base substitution C T intron_variant PACA-AU 22 21934554 21934554 single base substitution C T intron_variant PACA-AU 22 21936559 21936559 single base substitution T C intron_variant PACA-AU 22 21940215 21940215 single base substitution G C intron_variant PACA-AU 22 21950068 21950068 single base substitution G C intron_variant PACA-AU 22 21953212 21953212 single base substitution C G intron_variant PACA-AU 22 21959762 21959762 deletion of <=200bp T - intron_variant PACA-AU 22 21963485 21963485 single base substitution C T intron_variant PACA-AU 22 21965591 21965591 single base substitution G A intron_variant PACA-AU 22 21969308 21969308 single base substitution G C intron_variant PACA-AU 22 21970814 21970814 single base substitution A G intron_variant PACA-AU 22 21972455 21972455 single base substitution G T intron_variant PACA-AU 22 21975853 21975853 single base substitution G A exon_variant PACA-AU 22 21975853 21975853 single base substitution G A synonymous_variant P120P 360G>A PACA-AU 22 21975853 21975853 single base substitution G A synonymous_variant P178P 534G>A PACA-AU 22 21975853 21975853 single base substitution G A synonymous_variant P88P 264G>A PACA-AU 22 21975856 21975856 single base substitution T C exon_variant PACA-AU 22 21975856 21975856 single base substitution T C synonymous_variant L121L 363T>C PACA-AU 22 21975856 21975856 single base substitution T C synonymous_variant L179L 537T>C PACA-AU 22 21975856 21975856 single base substitution T C synonymous_variant L89L 267T>C PACA-AU 22 21977567 21977567 single base substitution C T 3_prime_UTR_variant PACA-AU 22 21977567 21977567 single base substitution C T downstream_gene_variant PACA-AU 22 21977567 21977567 single base substitution C T exon_variant PACA-AU 22 21980651 21980651 single base substitution T A downstream_gene_variant PACA-CA 22 21910021 21910021 single base substitution G A intron_variant PACA-CA 22 21911021 21911021 single base substitution G A intron_variant PACA-CA 22 21911783 21911783 single base substitution A G intron_variant PACA-CA 22 21912011 21912011 single base substitution C T intron_variant PACA-CA 22 21915880 21915881 deletion of <=200bp AG - intron_variant PACA-CA 22 21918055 21918055 single base substitution G A intron_variant PACA-CA 22 21918055 21918055 single base substitution G A upstream_gene_variant PACA-CA 22 21918993 21918993 single base substitution G T intron_variant PACA-CA 22 21918993 21918993 single base substitution G T upstream_gene_variant PACA-CA 22 21923137 21923137 single base substitution T A intron_variant PACA-CA 22 21926174 21926174 single base substitution T C intron_variant PACA-CA 22 21927192 21927192 single base substitution C A intron_variant PACA-CA 22 21929879 21929880 deletion of <=200bp AA - intron_variant PACA-CA 22 21934228 21934228 single base substitution A C intron_variant PACA-CA 22 21934622 21934622 single base substitution A C intron_variant PACA-CA 22 21935262 21935262 single base substitution C T intron_variant PACA-CA 22 21936436 21936436 single base substitution A C intron_variant PACA-CA 22 21940075 21940075 single base substitution G A intron_variant PACA-CA 22 21951384 21951384 single base substitution C G intron_variant PACA-CA 22 21955095 21955095 single base substitution G C intron_variant PACA-CA 22 21960476 21960476 single base substitution G A intron_variant PACA-CA 22 21967252 21967252 single base substitution C T intron_variant PACA-CA 22 21971681 21971681 single base substitution G A intron_variant PACA-CA 22 21976957 21976957 single base substitution G A 3_prime_UTR_variant PACA-CA 22 21976957 21976957 single base substitution G A downstream_gene_variant PACA-CA 22 21976957 21976957 single base substitution G A exon_variant PACA-CA 22 21978372 21978372 single base substitution C T downstream_gene_variant PACA-CA 22 21982787 21982787 single base substitution C T downstream_gene_variant PAEN-AU 22 21910891 21910891 single base substitution C T intron_variant PAEN-AU 22 21970702 21970702 single base substitution G T intron_variant PBCA-DE 22 21916154 21916154 deletion of <=200bp T - intron_variant PBCA-DE 22 21927950 21927950 single base substitution C T intron_variant PBCA-DE 22 21936409 21936409 insertion of <=200bp - A intron_variant PBCA-DE 22 21940880 21940880 single base substitution G A intron_variant PBCA-DE 22 21943119 21943119 insertion of <=200bp - T intron_variant PBCA-DE 22 21952676 21952676 single base substitution G C intron_variant PBCA-DE 22 21970784 21970784 insertion of <=200bp - A intron_variant PRAD-CA 22 21911333 21911333 single base substitution A T intron_variant PRAD-CA 22 21920817 21920817 single base substitution G C intron_variant PRAD-CA 22 21920817 21920817 single base substitution G C upstream_gene_variant PRAD-CA 22 21924329 21924329 single base substitution C G intron_variant PRAD-CA 22 21957736 21957736 single base substitution T A intron_variant PRAD-CA 22 21980077 21980077 single base substitution T G downstream_gene_variant PRAD-UK 22 21908600 21908600 single base substitution A G intron_variant PRAD-UK 22 21913281 21913281 single base substitution G C intron_variant PRAD-UK 22 21915693 21915694 deletion of <=200bp TG - intron_variant PRAD-UK 22 21916155 21916155 single base substitution T A intron_variant PRAD-UK 22 21960431 21960431 single base substitution A C intron_variant PRAD-UK 22 21979584 21979584 single base substitution C A downstream_gene_variant READ-US 22 21965220 21965220 single base substitution G A exon_variant READ-US 22 21965220 21965220 single base substitution G A synonymous_variant P124P 372G>A READ-US 22 21965220 21965220 single base substitution G A synonymous_variant P34P 102G>A READ-US 22 21965220 21965220 single base substitution G A synonymous_variant P66P 198G>A RECA-EU 22 21912397 21912397 single base substitution C T intron_variant RECA-EU 22 21920937 21920937 single base substitution G A intron_variant RECA-EU 22 21920937 21920937 single base substitution G A upstream_gene_variant RECA-EU 22 21929421 21929421 single base substitution G A intron_variant RECA-EU 22 21931106 21931106 single base substitution T C intron_variant RECA-EU 22 21954927 21954927 single base substitution G T intron_variant RECA-EU 22 21961385 21961385 single base substitution G C intron_variant RECA-EU 22 21963860 21963860 single base substitution G T intron_variant RECA-EU 22 21968679 21968679 single base substitution G T intron_variant RECA-EU 22 21976333 21976333 single base substitution C A 3_prime_UTR_variant RECA-EU 22 21976333 21976333 single base substitution C A exon_variant SKCA-BR 22 21900213 21900213 single base substitution T C upstream_gene_variant SKCA-BR 22 21906281 21906287 deletion of <=200bp TACACAC - intron_variant SKCA-BR 22 21909835 21909835 single base substitution A G intron_variant SKCA-BR 22 21911097 21911097 single base substitution C T intron_variant SKCA-BR 22 21911529 21911537 deletion of <=200bp GCCTGTAGT - intron_variant SKCA-BR 22 21911817 21911817 insertion of <=200bp - CT intron_variant SKCA-BR 22 21912207 21912207 single base substitution T C intron_variant SKCA-BR 22 21913013 21913013 single base substitution G A intron_variant SKCA-BR 22 21913071 21913071 single base substitution A C intron_variant SKCA-BR 22 21913232 21913232 single base substitution G A intron_variant SKCA-BR 22 21915646 21915646 single base substitution C G intron_variant SKCA-BR 22 21916632 21916632 single base substitution C T intron_variant SKCA-BR 22 21917439 21917439 single base substitution G A intron_variant SKCA-BR 22 21917439 21917439 single base substitution G A upstream_gene_variant SKCA-BR 22 21917550 21917550 single base substitution T A intron_variant SKCA-BR 22 21917550 21917550 single base substitution T A upstream_gene_variant SKCA-BR 22 21917868 21917868 insertion of <=200bp - CT intron_variant SKCA-BR 22 21917868 21917868 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 22 21922030 21922030 single base substitution C T 5_prime_UTR_variant SKCA-BR 22 21922030 21922030 single base substitution C T exon_variant SKCA-BR 22 21922030 21922030 single base substitution C T intron_variant SKCA-BR 22 21922966 21922966 single base substitution A C intron_variant SKCA-BR 22 21929323 21929323 single base substitution A T intron_variant SKCA-BR 22 21930093 21930093 single base substitution C T intron_variant SKCA-BR 22 21930434 21930434 single base substitution C T intron_variant SKCA-BR 22 21933251 21933259 deletion of <=200bp ATTATTTAT - intron_variant SKCA-BR 22 21936028 21936028 single base substitution T G intron_variant SKCA-BR 22 21936089 21936089 insertion of <=200bp - CA intron_variant SKCA-BR 22 21938467 21938468 deletion of <=200bp AT - intron_variant SKCA-BR 22 21939051 21939051 single base substitution A C intron_variant SKCA-BR 22 21939882 21939882 single base substitution T G intron_variant SKCA-BR 22 21940014 21940014 single base substitution C T intron_variant SKCA-BR 22 21944869 21944869 single base substitution C G intron_variant SKCA-BR 22 21944918 21944918 single base substitution C G intron_variant SKCA-BR 22 21949537 21949537 single base substitution T A intron_variant SKCA-BR 22 21952484 21952484 insertion of <=200bp - ATGTGTGTGTGTGTGTGTGTGTGTGTGTG intron_variant SKCA-BR 22 21952848 21952848 single base substitution T A intron_variant SKCA-BR 22 21956256 21956259 deletion of <=200bp CAAA - intron_variant SKCA-BR 22 21956403 21956403 single base substitution A G intron_variant SKCA-BR 22 21956431 21956431 single base substitution T G intron_variant SKCA-BR 22 21962262 21962262 single base substitution A G intron_variant SKCA-BR 22 21966202 21966202 single base substitution C T intron_variant SKCA-BR 22 21966922 21966922 single base substitution C T intron_variant SKCA-BR 22 21967517 21967517 single base substitution T C intron_variant SKCA-BR 22 21968363 21968363 single base substitution C T intron_variant SKCA-BR 22 21977411 21977411 single base substitution C A 3_prime_UTR_variant SKCA-BR 22 21977411 21977411 single base substitution C A downstream_gene_variant SKCA-BR 22 21977411 21977411 single base substitution C A exon_variant SKCA-BR 22 21979289 21979289 single base substitution T C downstream_gene_variant SKCA-BR 22 21979603 21979603 single base substitution C T downstream_gene_variant SKCA-BR 22 21979604 21979604 single base substitution C T downstream_gene_variant SKCA-BR 22 21983158 21983158 single base substitution T G downstream_gene_variant SKCA-BR 22 21983162 21983162 single base substitution A G downstream_gene_variant SKCA-BR 22 21983283 21983283 single base substitution G A downstream_gene_variant SKCM-US 22 21947178 21947178 single base substitution T C exon_variant SKCM-US 22 21947178 21947178 single base substitution T C intron_variant SKCM-US 22 21947178 21947178 single base substitution T C missense_variant M19T 56T>C SKCM-US 22 21947178 21947178 single base substitution T C missense_variant M77T 230T>C SKCM-US 22 21982731 21982731 single base substitution G A downstream_gene_variant SKCM-US 22 21982815 21982815 single base substitution C T downstream_gene_variant STAD-US 22 21947247 21947247 single base substitution T C intron_variant STAD-US 22 21947247 21947247 single base substitution T C splice_donor_variant STAD-US 22 21982820 21982820 single base substitution C T downstream_gene_variant UCEC-US 22 21922043 21922043 single base substitution A G exon_variant UCEC-US 22 21922043 21922043 single base substitution A G intron_variant UCEC-US 22 21922043 21922043 single base substitution A G missense_variant S4G 10A>G UCEC-US 22 21975917 21975917 single base substitution G T exon_variant UCEC-US 22 21975917 21975917 single base substitution G T stop_gained E110* 328G>T UCEC-US 22 21975917 21975917 single base substitution G T stop_gained E142* 424G>T UCEC-US 22 21975917 21975917 single base substitution G T stop_gained E200* 598G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BC-A3KF-01 COSM4927878 c.11G>T p.S4I Substitution - Missense 22:21567755-21567755 + DLD1 COSM4624607 c.158T>C p.I53T Substitution - Missense 22:21610891-21610891 + DLD1 COSM4624606 c.4G>A p.A2T Substitution - Missense 22:21567748-21567748 + T55 COSM4738685 c.359C>T p.P120L Substitution - Missense 22:21621563-21621563 + ESO-859 COSM1240597 c.67C>T p.R23C Substitution - Missense 22:21592900-21592900 + PD4833a COSM5787620 c.294A>G p.A98A Substitution - coding silent 22:21611027-21611027 + ESCC_12 COSM5624908 c.232A>T p.N78Y Substitution - Missense 22:21610965-21610965 + TCGA-EI-6917-01 COSM3424055 c.198G>A p.P66P Substitution - coding silent 22:21610931-21610931 + TCGA-AA-A010-01 COSM286233 c.311-10C>A p.? Unknown 22:21621505-21621505 + Pat_04_A COSM5858981 c.121C>T p.P41S Substitution - Missense 22:21592954-21592954 + B64-Tumor COSM1751751 c.163A>T p.I55F Substitution - Missense 22:21610896-21610896 + 8066067 COSM3308856 c.360G>A p.P120P Substitution - coding silent 22:21621564-21621564 + TCGA-AA-3672-01 COSM267710 c.204C>T p.I68I Substitution - coding silent 22:21610937-21610937 + TCGA-D8-A27G-01 COSM3842257 c.21G>T p.L7L Substitution - coding silent 22:21567765-21567765 + ESCC-003T COSM3939573 c.304G>A p.D102N Substitution - Missense 22:21611037-21611037 + HCT15 COSM4624606 c.4G>A p.A2T Substitution - Missense 22:21567748-21567748 + HCC77T COSM1616269 c.8_9insCAG p.S4_R5insS Insertion - In frame 22:21567752-21567753 + 8066067 COSM3308857 c.363T>C p.L121L Substitution - coding silent 22:21621567-21621567 + TCGA-AD-6895-01 COSM1415070 c.97T>A p.L33M Substitution - Missense 22:21592930-21592930 + TCGA-D5-6930-01 COSM1415071 c.105G>A p.W35* Substitution - Nonsense 22:21592938-21592938 + TCGA-AA-3852-01 COSM295690 c.143A>C p.K48T Substitution - Missense 22:21610876-21610876 + TCGA-D1-A17Q-01 COSM1032455 c.10A>G p.S4G Substitution - Missense 22:21567754-21567754 + TCGA-D1-A17Q-01 COSM1032456 c.424G>T p.E142* Substitution - Nonsense 22:21621628-21621628 + TCGA-D3-A5GO-06 COSM3552404 c.56T>C p.M19T Substitution - Missense 22:21592889-21592889 + B64 COSM1751751 c.163A>T p.I55F Substitution - Missense 22:21610896-21610896 + HCT8 COSM4624606 c.4G>A p.A2T Substitution - Missense 22:21567748-21567748 + TCGA-BQ-5892-01 COSM3992040 c.365G>C p.R122P Substitution - Missense 22:21621569-21621569 + TCGA-CG-5721-01 COSM4102877 c.123+2T>C p.? Unknown 22:21592958-21592958 + PDA_073 COSM5001879 c.262C>A p.P88T Substitution - Missense 22:21610995-21610995 + TCGA-AN-A046-01 COSM3842258 c.66C>A p.F22L Substitution - Missense 22:21592899-21592899 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.108104 22q11.21 603721

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K48T c.143A>C 22 21965165 COREAD C T Missense p.R23C c.67C>T 22 21947189 ESCA G A IntronicSNV . c.124-5410G>A 22 21959736 CLL G A Missense p.E128K c.382G>A 22 21975875 HNSC