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 ACC 22 19808792 19808792 + Silent SNP G G A TCGA-OR-A5J4-01A-11D-A29I-10 TCGA-OR-A5J4-10A-01D-A29L-10 g.chr22:19808792G>A c.87C>T c.(85-87)tgC>tgT p.C29C BLCA 22 19776237 19776237 + Missense_Mutation SNP C C A TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr22:19776237C>A c.979G>T c.(979-981)Gca>Tca p.A327S BLCA 22 19794230 19794230 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 g.chr22:19794230C>T c.468G>A c.(466-468)ccG>ccA p.P156P BLCA 22 19799811 19799811 + Silent SNP G G A TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 g.chr22:19799811G>A c.414C>T c.(412-414)gaC>gaT p.D138D BLCA 22 19808202 19808202 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 g.chr22:19808202C>T c.173G>A c.(172-174)aGa>aAa p.R58K BLCA 22 19808787 19808787 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chr22:19808787C>G c.92G>C c.(91-93)gGa>gCa p.G31A BRCA 22 19794230 19794230 + Silent SNP C C A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr22:19794230C>A c.468G>T c.(466-468)ccG>ccT p.P156P BRCA 22 19794230 19794230 + Silent SNP C C G TCGA-E9-A1R4-01A-21D-A14G-09 TCGA-E9-A1R4-10A-01D-A14G-09 g.chr22:19794230C>G c.468G>C c.(466-468)ccG>ccC p.P156P BRCA 22 19808817 19808817 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr22:19808817G>A c.62C>T c.(61-63)tCa>tTa p.S21L CESC 22 19776256 19776256 + Silent SNP G G T TCGA-EA-A3Y4-01A-51D-A243-09 TCGA-EA-A3Y4-10A-01D-A243-09 g.chr22:19776256G>T c.960C>A c.(958-960)ctC>ctA p.L320L CESC 22 19799874 19799874 + Silent SNP C C G TCGA-EK-A2RK-01A-11D-A18J-09 TCGA-EK-A2RK-10A-01D-A18J-09 g.chr22:19799874C>G c.351G>C c.(349-351)cgG>cgC p.R117R CHOL 22 19808754 19808754 + Nonsense_Mutation SNP G G T TCGA-3X-AAVC-01A-21D-A417-09 TCGA-3X-AAVC-10A-01D-A41A-09 g.chr22:19808754G>T c.125C>A c.(124-126)tCa>tAa p.S42* COAD 22 19776328 19776328 + Silent SNP G G T TCGA-AA-3531-01A-01W-0831-10 TCGA-AA-3531-10A-01W-0831-10 g.chr22:19776328G>T c.888C>A c.(886-888)gcC>gcA p.A296A COAD 22 19776384 19776384 + Missense_Mutation SNP G G A TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr22:19776384G>A c.832C>T c.(832-834)Cgc>Tgc p.R278C COAD 22 19789724 19789724 + Missense_Mutation SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr22:19789724G>A c.532C>T c.(532-534)Cgc>Tgc p.R178C COAD 22 19808774 19808775 + Frame_Shift_Ins INS - - T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr22:19808774_19808775insT c.104_105insA c.(103-105)cagfs p.Q35fs COAD 22 19808805 19808805 + Missense_Mutation SNP G G A TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr22:19808805G>A c.74C>T c.(73-75)gCg>gTg p.A25V COAD 22 19808858 19808858 + Silent SNP C C T TCGA-DM-A282-01A-12D-A16V-10 TCGA-DM-A282-10A-01D-A16V-10 g.chr22:19808858C>T c.21G>A c.(19-21)ccG>ccA p.P7P COAD 22 19808861 19808861 + Silent SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr22:19808861C>T c.18G>A c.(16-18)ccG>ccA p.P6P COADREAD 22 19776328 19776328 + Silent SNP G G T TCGA-AA-3531-01A-01W-0831-10 TCGA-AA-3531-10A-01W-0831-10 g.chr22:19776328G>T c.888C>A c.(886-888)gcC>gcA p.A296A COADREAD 22 19776384 19776384 + Missense_Mutation SNP G G A TCGA-CK-6747-01A-11D-1835-10 TCGA-CK-6747-10A-01D-1835-10 g.chr22:19776384G>A c.832C>T c.(832-834)Cgc>Tgc p.R278C COADREAD 22 19789724 19789724 + Missense_Mutation SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr22:19789724G>A c.532C>T c.(532-534)Cgc>Tgc p.R178C COADREAD 22 19808774 19808775 + Frame_Shift_Ins INS - - T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr22:19808774_19808775insT c.104_105insA c.(103-105)cagfs p.Q35fs COADREAD 22 19808805 19808805 + Missense_Mutation SNP G G A TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr22:19808805G>A c.74C>T c.(73-75)gCg>gTg p.A25V COADREAD 22 19808858 19808858 + Silent SNP C C T TCGA-DM-A282-01A-12D-A16V-10 TCGA-DM-A282-10A-01D-A16V-10 g.chr22:19808858C>T c.21G>A c.(19-21)ccG>ccA p.P7P COADREAD 22 19808861 19808861 + Silent SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr22:19808861C>T c.18G>A c.(16-18)ccG>ccA p.P6P ESCA 22 19808147 19808147 + Silent SNP C C T TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 g.chr22:19808147C>T c.228G>A c.(226-228)acG>acA p.T76T ESCA 22 19808206 19808206 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr22:19808206G>A c.169C>T c.(169-171)Cgg>Tgg p.R57W GBM 22 19794193 19794193 + Missense_Mutation SNP G G C TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 g.chr22:19794193G>C c.505C>G c.(505-507)Cgg>Ggg p.R169G GBM 22 19799872 19799872 + Missense_Mutation SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 g.chr22:19799872C>T c.353G>A c.(352-354)aGc>aAc p.S118N GBMLGG 22 19794193 19794193 + Missense_Mutation SNP G G C TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 g.chr22:19794193G>C c.505C>G c.(505-507)Cgg>Ggg p.R169G GBMLGG 22 19799872 19799872 + Missense_Mutation SNP C C T TCGA-06-0747-01A-01W-0348-08 TCGA-06-0747-10A-01W-0348-08 g.chr22:19799872C>T c.353G>A c.(352-354)aGc>aAc p.S118N HNSC 22 19776318 19776318 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr22:19776318A>G c.898T>C c.(898-900)Tgc>Cgc p.C300R HNSC 22 19789706 19789706 + Missense_Mutation SNP C C A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr22:19789706C>A c.550G>T c.(550-552)Ggc>Tgc p.G184C HNSC 22 19789706 19789706 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 g.chr22:19789706C>T c.550G>A c.(550-552)Ggc>Agc p.G184S HNSC 22 19808242 19808242 + Nonsense_Mutation SNP G G A TCGA-CN-6020-01A-11D-1683-08 TCGA-CN-6020-10A-01D-1683-08 g.chr22:19808242G>A c.133C>T c.(133-135)Cag>Tag p.Q45* KIPAN 22 19776236 19776236 + Missense_Mutation SNP G G T TCGA-A3-3367-01A-02D-1421-08 TCGA-A3-3367-11A-01D-1421-08 g.chr22:19776236G>T c.980C>A c.(979-981)gCa>gAa p.A327E KIRC 22 19776236 19776236 + Missense_Mutation SNP G G T TCGA-A3-3367-01A-02D-1421-08 TCGA-A3-3367-11A-01D-1421-08 g.chr22:19776236G>T c.980C>A c.(979-981)gCa>gAa p.A327E LIHC 22 19808139 19808139 + Missense_Mutation SNP T T A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr22:19808139T>A c.236A>T c.(235-237)cAg>cTg p.Q79L LUAD 22 19776300 19776300 + Missense_Mutation SNP C C T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr22:19776300C>T c.916G>A c.(916-918)Gat>Aat p.D306N LUAD 22 19799918 19799918 + Missense_Mutation SNP C C A TCGA-50-5066-01A-01D-1625-08 TCGA-50-5066-10A-01D-1625-08 g.chr22:19799918C>A c.307G>T c.(307-309)Gct>Tct p.A103S LUAD 22 19808806 19808806 + Missense_Mutation SNP C C G TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr22:19808806C>G c.73G>C c.(73-75)Gcg>Ccg p.A25P LUSC 22 19799846 19799846 + Missense_Mutation SNP G G A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 g.chr22:19799846G>A c.379C>T c.(379-381)Cgc>Tgc p.R127C LUSC 22 19799876 19799876 + Missense_Mutation SNP G G A TCGA-85-6175-01A-11D-1817-08 TCGA-85-6175-10A-01D-1817-08 g.chr22:19799876G>A c.349C>T c.(349-351)Cgg>Tgg p.R117W PAAD 22 19794255 19794255 + Missense_Mutation SNP T T A TCGA-YY-A8LH-01A-11D-A36O-08 TCGA-YY-A8LH-10A-01D-A367-08 g.chr22:19794255T>A c.443A>T c.(442-444)aAg>aTg p.K148M PRAD 22 19776365 19776365 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr22:19776365G>A c.851C>T c.(850-852)aCg>aTg p.T284M PRAD 22 19789726 19789726 + Missense_Mutation SNP G G T TCGA-KK-A6E4-01A-11D-A30E-08 TCGA-KK-A6E4-11A-11D-A30H-08 g.chr22:19789726G>T c.530C>A c.(529-531)tCc>tAc p.S177Y PRAD 22 19808139 19808139 + Missense_Mutation SNP T T G TCGA-EJ-5504-01A-01D-1576-08 TCGA-EJ-5504-10A-01D-1577-08 g.chr22:19808139T>G c.236A>C c.(235-237)cAg>cCg p.Q79P SKCM 22 19776432 19776432 + Missense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr22:19776432G>A c.784C>T c.(784-786)Cgg>Tgg p.R262W SKCM 22 19776448 19776448 + Silent SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr22:19776448G>A c.768C>T c.(766-768)atC>atT p.I256I SKCM 22 19789715 19789715 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr22:19789715G>A c.541C>T c.(541-543)Ctt>Ttt p.L181F SKCM 22 19799823 19799823 + Silent SNP C C T TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr22:19799823C>T c.402G>A c.(400-402)ggG>ggA p.G134G SKCM 22 19808195 19808195 + Silent SNP A A T TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 g.chr22:19808195A>T c.180T>A c.(178-180)gtT>gtA p.V60V SKCM 22 19808831 19808831 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr22:19808831G>A c.48C>T c.(46-48)ctC>ctT p.L16L

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 19838868 19838868 single base substitution G A intron_variant BLCA-US 22 19794230 19794230 single base substitution C T exon_variant BLCA-US 22 19794230 19794230 single base substitution C T synonymous_variant P156P 468G>A BLCA-US 22 19799811 19799811 single base substitution G A downstream_gene_variant BLCA-US 22 19799811 19799811 single base substitution G A exon_variant BLCA-US 22 19799811 19799811 single base substitution G A synonymous_variant D138D 414C>T BLCA-US 22 19808787 19808787 single base substitution C G intron_variant BLCA-US 22 19808787 19808787 single base substitution C G missense_variant G31A 92G>C BLCA-US 22 19838758 19838758 single base substitution C T intron_variant BLCA-US 22 19839388 19839388 single base substitution G A intron_variant BLCA-US 22 19839452 19839452 single base substitution C T intron_variant BOCA-FR 22 19774440 19774440 single base substitution C G 3_prime_UTR_variant BOCA-FR 22 19774440 19774440 single base substitution C G downstream_gene_variant BOCA-FR 22 19799681 19799681 single base substitution C A downstream_gene_variant BOCA-FR 22 19799681 19799681 single base substitution C A intron_variant BOCA-FR 22 19842181 19842181 single base substitution A C 5_prime_UTR_variant BOCA-FR 22 19842181 19842181 single base substitution A C exon_variant BOCA-FR 22 19842181 19842181 single base substitution A C intron_variant BRCA-EU 22 19765792 19765792 single base substitution T A downstream_gene_variant BRCA-EU 22 19765981 19765981 single base substitution G C downstream_gene_variant BRCA-EU 22 19766426 19766426 single base substitution T A downstream_gene_variant BRCA-EU 22 19767407 19767407 single base substitution G A downstream_gene_variant BRCA-EU 22 19767558 19767558 single base substitution A G downstream_gene_variant BRCA-EU 22 19769799 19769799 single base substitution C T downstream_gene_variant BRCA-EU 22 19770890 19770890 single base substitution C T 3_prime_UTR_variant BRCA-EU 22 19771027 19771027 single base substitution C A 3_prime_UTR_variant BRCA-EU 22 19771027 19771027 single base substitution C A downstream_gene_variant BRCA-EU 22 19771053 19771054 deletion of <=200bp AC - 3_prime_UTR_variant BRCA-EU 22 19771053 19771054 deletion of <=200bp AC - downstream_gene_variant BRCA-EU 22 19771428 19771428 single base substitution C G 3_prime_UTR_variant BRCA-EU 22 19771428 19771428 single base substitution C G downstream_gene_variant BRCA-EU 22 19771996 19771996 single base substitution C G 3_prime_UTR_variant BRCA-EU 22 19771996 19771996 single base substitution C G downstream_gene_variant BRCA-EU 22 19772654 19772654 single base substitution A G 3_prime_UTR_variant BRCA-EU 22 19772654 19772654 single base substitution A G downstream_gene_variant BRCA-EU 22 19774449 19774449 single base substitution C G 3_prime_UTR_variant BRCA-EU 22 19774449 19774449 single base substitution C G downstream_gene_variant BRCA-EU 22 19774720 19774720 single base substitution C A 3_prime_UTR_variant BRCA-EU 22 19774720 19774720 single base substitution C A downstream_gene_variant BRCA-EU 22 19774740 19774740 single base substitution C T 3_prime_UTR_variant BRCA-EU 22 19774740 19774740 single base substitution C T downstream_gene_variant BRCA-EU 22 19775669 19775669 single base substitution G C 3_prime_UTR_variant BRCA-EU 22 19775669 19775669 single base substitution G C downstream_gene_variant BRCA-EU 22 19775727 19775727 single base substitution C T 3_prime_UTR_variant BRCA-EU 22 19775727 19775727 single base substitution C T downstream_gene_variant BRCA-EU 22 19778591 19778591 deletion of <=200bp A - intron_variant BRCA-EU 22 19778745 19778745 single base substitution G A intron_variant BRCA-EU 22 19778934 19778934 single base substitution A T intron_variant BRCA-EU 22 19779448 19779448 single base substitution C G intron_variant BRCA-EU 22 19780687 19780687 single base substitution T A intron_variant BRCA-EU 22 19782337 19782337 single base substitution C A intron_variant BRCA-EU 22 19783466 19783466 single base substitution G C intron_variant BRCA-EU 22 19783925 19783925 single base substitution G A intron_variant BRCA-EU 22 19784380 19784380 single base substitution C G intron_variant BRCA-EU 22 19785808 19785808 single base substitution T G downstream_gene_variant BRCA-EU 22 19785808 19785808 single base substitution T G intron_variant BRCA-EU 22 19785811 19785811 single base substitution C G downstream_gene_variant BRCA-EU 22 19785811 19785811 single base substitution C G intron_variant BRCA-EU 22 19786043 19786043 insertion of <=200bp - AAAT downstream_gene_variant BRCA-EU 22 19786043 19786043 insertion of <=200bp - AAAT intron_variant BRCA-EU 22 19786986 19786986 single base substitution G A downstream_gene_variant BRCA-EU 22 19786986 19786986 single base substitution G A intron_variant BRCA-EU 22 19791029 19791029 single base substitution C T intron_variant BRCA-EU 22 19792196 19792196 single base substitution A T intron_variant BRCA-EU 22 19792255 19792255 single base substitution C G intron_variant BRCA-EU 22 19792865 19792865 single base substitution C T intron_variant BRCA-EU 22 19792893 19792893 single base substitution C T intron_variant BRCA-EU 22 19794879 19794879 single base substitution C G downstream_gene_variant BRCA-EU 22 19794879 19794879 single base substitution C G intron_variant BRCA-EU 22 19795618 19795618 single base substitution G A downstream_gene_variant BRCA-EU 22 19795618 19795618 single base substitution G A intron_variant BRCA-EU 22 19797875 19797875 single base substitution A C downstream_gene_variant BRCA-EU 22 19797875 19797875 single base substitution A C intron_variant BRCA-EU 22 19799331 19799331 single base substitution G A downstream_gene_variant BRCA-EU 22 19799331 19799331 single base substitution G A intron_variant BRCA-EU 22 19799573 19799573 single base substitution C T downstream_gene_variant BRCA-EU 22 19799573 19799573 single base substitution C T intron_variant BRCA-EU 22 19799858 19799858 single base substitution C T exon_variant BRCA-EU 22 19799858 19799858 single base substitution C T missense_variant G123R 367G>A BRCA-EU 22 19799858 19799858 single base substitution C T missense_variant G81R 241G>A BRCA-EU 22 19802152 19802152 single base substitution T C intron_variant BRCA-EU 22 19802781 19802781 single base substitution C T intron_variant BRCA-EU 22 19804042 19804042 single base substitution C A intron_variant BRCA-EU 22 19805598 19805600 deletion of <=200bp TAG - intron_variant BRCA-EU 22 19807595 19807595 single base substitution C G intron_variant BRCA-EU 22 19808020 19808020 single base substitution C A intron_variant BRCA-EU 22 19808242 19808242 single base substitution G C intron_variant BRCA-EU 22 19808242 19808242 single base substitution G C missense_variant Q45E 133C>G BRCA-EU 22 19810383 19810383 single base substitution C T intron_variant BRCA-EU 22 19811469 19811469 single base substitution G A intron_variant BRCA-EU 22 19812919 19812919 single base substitution G T intron_variant BRCA-EU 22 19813003 19813003 single base substitution G C intron_variant BRCA-EU 22 19813046 19813046 single base substitution G A intron_variant BRCA-EU 22 19813056 19813056 single base substitution G C intron_variant BRCA-EU 22 19813096 19813096 single base substitution G A intron_variant BRCA-EU 22 19813251 19813251 single base substitution G T intron_variant BRCA-EU 22 19813262 19813262 single base substitution G A intron_variant BRCA-EU 22 19813376 19813376 single base substitution G A intron_variant BRCA-EU 22 19813382 19813382 single base substitution G A intron_variant BRCA-EU 22 19813462 19813462 single base substitution C T intron_variant BRCA-EU 22 19813532 19813532 deletion of <=200bp A - intron_variant BRCA-EU 22 19813683 19813683 single base substitution C T intron_variant BRCA-EU 22 19815329 19815329 single base substitution G T intron_variant BRCA-EU 22 19816551 19816551 single base substitution C T intron_variant BRCA-EU 22 19816886 19816886 single base substitution A G intron_variant BRCA-EU 22 19816955 19816955 single base substitution C G intron_variant BRCA-EU 22 19818446 19818446 single base substitution G A intron_variant BRCA-EU 22 19821996 19821996 single base substitution C A intron_variant BRCA-EU 22 19822638 19822638 single base substitution G C intron_variant BRCA-EU 22 19822823 19822823 single base substitution T C intron_variant BRCA-EU 22 19823153 19823153 single base substitution C T intron_variant BRCA-EU 22 19824576 19824576 single base substitution G A intron_variant BRCA-EU 22 19825094 19825094 single base substitution G C intron_variant BRCA-EU 22 19825591 19825591 single base substitution C T intron_variant BRCA-EU 22 19826147 19826147 single base substitution C T intron_variant BRCA-EU 22 19826421 19826421 single base substitution A T intron_variant BRCA-EU 22 19827002 19827002 single base substitution C T intron_variant BRCA-EU 22 19827014 19827014 single base substitution C T intron_variant BRCA-EU 22 19827181 19827181 single base substitution C T intron_variant BRCA-EU 22 19827840 19827840 single base substitution C T intron_variant BRCA-EU 22 19828598 19828598 single base substitution C T intron_variant BRCA-EU 22 19828696 19828696 single base substitution G A intron_variant BRCA-EU 22 19828769 19828769 single base substitution C G intron_variant BRCA-EU 22 19829107 19829107 single base substitution G C intron_variant BRCA-EU 22 19829257 19829257 single base substitution C T intron_variant BRCA-EU 22 19831441 19831441 single base substitution C T intron_variant BRCA-EU 22 19832204 19832204 deletion of <=200bp C - intron_variant BRCA-EU 22 19832412 19832412 single base substitution C T intron_variant BRCA-EU 22 19832550 19832550 single base substitution C G intron_variant BRCA-EU 22 19833205 19833205 single base substitution G A intron_variant BRCA-EU 22 19834311 19834311 single base substitution G A intron_variant BRCA-EU 22 19834692 19834692 single base substitution A T intron_variant BRCA-EU 22 19836455 19836455 single base substitution A T intron_variant BRCA-EU 22 19838262 19838262 single base substitution A G intron_variant BRCA-EU 22 19838898 19838898 single base substitution G A intron_variant BRCA-EU 22 19839737 19839737 single base substitution C T intron_variant BRCA-EU 22 19839860 19839860 single base substitution G A intron_variant BRCA-EU 22 19842543 19842543 single base substitution C T upstream_gene_variant BRCA-EU 22 19844485 19844485 single base substitution C G upstream_gene_variant BRCA-FR 22 19765981 19765981 single base substitution G C downstream_gene_variant BRCA-FR 22 19768165 19768165 single base substitution C T downstream_gene_variant BRCA-FR 22 19771996 19771996 single base substitution C G 3_prime_UTR_variant BRCA-FR 22 19771996 19771996 single base substitution C G downstream_gene_variant BRCA-FR 22 19774449 19774449 single base substitution C G 3_prime_UTR_variant BRCA-FR 22 19774449 19774449 single base substitution C G downstream_gene_variant BRCA-FR 22 19782337 19782337 single base substitution C A intron_variant BRCA-FR 22 19785808 19785808 single base substitution T G downstream_gene_variant BRCA-FR 22 19785808 19785808 single base substitution T G intron_variant BRCA-FR 22 19785811 19785811 single base substitution C G downstream_gene_variant BRCA-FR 22 19785811 19785811 single base substitution C G intron_variant BRCA-FR 22 19802781 19802781 single base substitution C T intron_variant BRCA-FR 22 19806100 19806100 single base substitution G A intron_variant BRCA-FR 22 19815329 19815329 single base substitution G T intron_variant BRCA-FR 22 19816955 19816955 single base substitution C G intron_variant BRCA-FR 22 19823138 19823138 single base substitution A T intron_variant BRCA-FR 22 19837040 19837040 single base substitution C T intron_variant BRCA-UK 22 19767407 19767407 single base substitution G A downstream_gene_variant BRCA-UK 22 19767558 19767558 single base substitution A G downstream_gene_variant BRCA-UK 22 19797875 19797875 single base substitution A C downstream_gene_variant BRCA-UK 22 19797875 19797875 single base substitution A C intron_variant BRCA-UK 22 19829107 19829107 single base substitution G C intron_variant BRCA-UK 22 19832085 19832085 single base substitution A C intron_variant BRCA-US 22 19770438 19770438 single base substitution C A downstream_gene_variant BRCA-US 22 19794230 19794230 single base substitution C A exon_variant BRCA-US 22 19794230 19794230 single base substitution C A synonymous_variant P156P 468G>T BRCA-US 22 19794230 19794230 single base substitution C G exon_variant BRCA-US 22 19794230 19794230 single base substitution C G synonymous_variant P156P 468G>C BRCA-US 22 19808817 19808817 single base substitution G A intron_variant BRCA-US 22 19808817 19808817 single base substitution G A missense_variant S21L 62C>T BTCA-JP 22 19839039 19839040 deletion of <=200bp AC - intron_variant BTCA-JP 22 19839340 19839340 single base substitution G A intron_variant CESC-US 22 19776159 19776159 insertion of <=200bp - G 3_prime_UTR_variant CESC-US 22 19776159 19776159 insertion of <=200bp - G exon_variant CESC-US 22 19776159 19776159 insertion of <=200bp - G intron_variant CESC-US 22 19776198 19776198 single base substitution G A 3_prime_UTR_variant CESC-US 22 19776198 19776198 single base substitution G A exon_variant CESC-US 22 19776198 19776198 single base substitution G A intron_variant CESC-US 22 19776256 19776256 single base substitution G T exon_variant CESC-US 22 19776256 19776256 single base substitution G T intron_variant CESC-US 22 19776256 19776256 single base substitution G T synonymous_variant L320L 960C>A CESC-US 22 19799874 19799874 single base substitution C G exon_variant CESC-US 22 19799874 19799874 single base substitution C G synonymous_variant R117R 351G>C CESC-US 22 19799874 19799874 single base substitution C G synonymous_variant R75R 225G>C CESC-US 22 19839483 19839483 single base substitution C T intron_variant CLLE-ES 22 19846303 19846303 single base substitution C A upstream_gene_variant COAD-US 22 19766782 19766782 single base substitution C T downstream_gene_variant COAD-US 22 19776382 19776382 single base substitution G A exon_variant COAD-US 22 19776382 19776382 single base substitution G A intron_variant COAD-US 22 19776382 19776382 single base substitution G A synonymous_variant R278R 834C>T COAD-US 22 19789541 19789541 single base substitution A C exon_variant COAD-US 22 19789541 19789541 single base substitution A C intron_variant COAD-US 22 19789541 19789541 single base substitution A C missense_variant W239G 715T>G COAD-US 22 19808769 19808769 single base substitution C T intron_variant COAD-US 22 19808769 19808769 single base substitution C T missense_variant R37H 110G>A COAD-US 22 19808774 19808774 insertion of <=200bp - T frameshift_variant Q35Q? COAD-US 22 19808774 19808774 insertion of <=200bp - T intron_variant COAD-US 22 19808805 19808805 single base substitution G A intron_variant COAD-US 22 19808805 19808805 single base substitution G A missense_variant A25V 74C>T COAD-US 22 19808858 19808858 single base substitution C T intron_variant COAD-US 22 19808858 19808858 single base substitution C T synonymous_variant P7P 21G>A COAD-US 22 19808861 19808861 single base substitution C T intron_variant COAD-US 22 19808861 19808861 single base substitution C T synonymous_variant P6P 18G>A COAD-US 22 19839332 19839332 single base substitution C A intron_variant COAD-US 22 19839750 19839750 single base substitution C T intron_variant COCA-CN 22 19789723 19789723 single base substitution C T exon_variant COCA-CN 22 19789723 19789723 single base substitution C T missense_variant R178H 533G>A COCA-CN 22 19794327 19794327 single base substitution C A intron_variant COCA-CN 22 19799838 19799838 single base substitution C T exon_variant COCA-CN 22 19799838 19799838 single base substitution C T synonymous_variant T129T 387G>A COCA-CN 22 19799838 19799838 single base substitution C T synonymous_variant T87T 261G>A COCA-CN 22 19838751 19838751 single base substitution G C intron_variant COCA-CN 22 19839372 19839372 single base substitution C T intron_variant EOPC-DE 22 19796113 19796113 single base substitution A G downstream_gene_variant EOPC-DE 22 19796113 19796113 single base substitution A G intron_variant EOPC-DE 22 19832341 19832341 single base substitution G A intron_variant ESAD-UK 22 19765933 19765933 single base substitution T C downstream_gene_variant ESAD-UK 22 19771453 19771453 single base substitution G T 3_prime_UTR_variant ESAD-UK 22 19771453 19771453 single base substitution G T downstream_gene_variant ESAD-UK 22 19771560 19771560 single base substitution G A 3_prime_UTR_variant ESAD-UK 22 19771560 19771560 single base substitution G A downstream_gene_variant ESAD-UK 22 19772101 19772101 single base substitution C T 3_prime_UTR_variant ESAD-UK 22 19772101 19772101 single base substitution C T downstream_gene_variant ESAD-UK 22 19774151 19774151 single base substitution G A 3_prime_UTR_variant ESAD-UK 22 19774151 19774151 single base substitution G A downstream_gene_variant ESAD-UK 22 19775206 19775206 single base substitution C T 3_prime_UTR_variant ESAD-UK 22 19775206 19775206 single base substitution C T downstream_gene_variant ESAD-UK 22 19776296 19776296 single base substitution C T exon_variant ESAD-UK 22 19776296 19776296 single base substitution C T intron_variant ESAD-UK 22 19776296 19776296 single base substitution C T missense_variant G307D 920G>A ESAD-UK 22 19777256 19777256 single base substitution C G intron_variant ESAD-UK 22 19781058 19781058 single base substitution C T intron_variant ESAD-UK 22 19781693 19781693 single base substitution G A intron_variant ESAD-UK 22 19781823 19781823 single base substitution C T intron_variant ESAD-UK 22 19782692 19782692 single base substitution C A intron_variant ESAD-UK 22 19784549 19784549 single base substitution C G downstream_gene_variant ESAD-UK 22 19784549 19784549 single base substitution C G intron_variant ESAD-UK 22 19784802 19784802 single base substitution G A downstream_gene_variant ESAD-UK 22 19784802 19784802 single base substitution G A intron_variant ESAD-UK 22 19785262 19785262 single base substitution T G downstream_gene_variant ESAD-UK 22 19785262 19785262 single base substitution T G intron_variant ESAD-UK 22 19785705 19785705 single base substitution T G downstream_gene_variant ESAD-UK 22 19785705 19785705 single base substitution T G intron_variant ESAD-UK 22 19788232 19788232 single base substitution G A downstream_gene_variant ESAD-UK 22 19788232 19788232 single base substitution G A intron_variant ESAD-UK 22 19788608 19788608 single base substitution C A downstream_gene_variant ESAD-UK 22 19788608 19788608 single base substitution C A intron_variant ESAD-UK 22 19788803 19788803 single base substitution C T downstream_gene_variant ESAD-UK 22 19788803 19788803 single base substitution C T intron_variant ESAD-UK 22 19790882 19790882 single base substitution G A intron_variant ESAD-UK 22 19791037 19791037 single base substitution C T intron_variant ESAD-UK 22 19796918 19796918 single base substitution T G downstream_gene_variant ESAD-UK 22 19796918 19796918 single base substitution T G intron_variant ESAD-UK 22 19798604 19798604 single base substitution G A downstream_gene_variant ESAD-UK 22 19798604 19798604 single base substitution G A intron_variant ESAD-UK 22 19800101 19800101 single base substitution C T intron_variant ESAD-UK 22 19803575 19803575 single base substitution A G intron_variant ESAD-UK 22 19804484 19804484 single base substitution C T intron_variant ESAD-UK 22 19805089 19805089 single base substitution T C intron_variant ESAD-UK 22 19807780 19807780 single base substitution C T intron_variant ESAD-UK 22 19812083 19812083 single base substitution C T intron_variant ESAD-UK 22 19813142 19813142 single base substitution C G intron_variant ESAD-UK 22 19813183 19813183 deletion of <=200bp T - intron_variant ESAD-UK 22 19813532 19813532 deletion of <=200bp A - intron_variant ESAD-UK 22 19814989 19814989 deletion of <=200bp C - intron_variant ESAD-UK 22 19817226 19817226 single base substitution G C intron_variant ESAD-UK 22 19821551 19821551 single base substitution A T intron_variant ESAD-UK 22 19823552 19823552 single base substitution A G intron_variant ESAD-UK 22 19823622 19823622 single base substitution G C intron_variant ESAD-UK 22 19823960 19823960 single base substitution C A intron_variant ESAD-UK 22 19824817 19824817 single base substitution G C intron_variant ESAD-UK 22 19825071 19825071 single base substitution T A intron_variant ESAD-UK 22 19827473 19827473 single base substitution C G intron_variant ESAD-UK 22 19827982 19827982 single base substitution C T intron_variant ESAD-UK 22 19828055 19828055 single base substitution C A intron_variant ESAD-UK 22 19828162 19828162 single base substitution G A intron_variant ESAD-UK 22 19828248 19828248 single base substitution G A intron_variant ESAD-UK 22 19831134 19831134 single base substitution A T intron_variant ESAD-UK 22 19834025 19834025 single base substitution C T intron_variant ESAD-UK 22 19838898 19838898 single base substitution G A intron_variant ESAD-UK 22 19839502 19839502 single base substitution C A intron_variant ESAD-UK 22 19844327 19844327 single base substitution A G upstream_gene_variant ESAD-UK 22 19844933 19844933 single base substitution C A upstream_gene_variant ESCA-CN 22 19838923 19838923 single base substitution C A intron_variant ESCA-CN 22 19839750 19839750 single base substitution C T intron_variant GBM-US 22 19794193 19794193 single base substitution G C exon_variant GBM-US 22 19794193 19794193 single base substitution G C missense_variant R169G 505C>G GBM-US 22 19799872 19799872 single base substitution C T exon_variant GBM-US 22 19799872 19799872 single base substitution C T missense_variant S118N 353G>A GBM-US 22 19799872 19799872 single base substitution C T missense_variant S76N 227G>A KIRC-US 22 19776236 19776236 single base substitution G T exon_variant KIRC-US 22 19776236 19776236 single base substitution G T intron_variant KIRC-US 22 19776236 19776236 single base substitution G T missense_variant A327E 980C>A LAML-KR 22 19794325 19794325 single base substitution G C intron_variant LAML-KR 22 19816373 19816373 single base substitution G T intron_variant LICA-CN 22 19789739 19789739 single base substitution C A missense_variant A173S 517G>T LICA-CN 22 19789739 19789739 single base substitution C A splice_region_variant LICA-CN 22 19839080 19839080 single base substitution T C intron_variant LICA-FR 22 19799890 19799890 single base substitution C T exon_variant LICA-FR 22 19799890 19799890 single base substitution C T missense_variant S112N 335G>A LICA-FR 22 19799890 19799890 single base substitution C T missense_variant S70N 209G>A LICA-FR 22 19802396 19802415 deletion of <=200bp AAATGTTTTTTAAATTAGTC - intron_variant LICA-FR 22 19808791 19808791 single base substitution C T intron_variant LICA-FR 22 19808791 19808791 single base substitution C T missense_variant E30K 88G>A LICA-FR 22 19813595 19813595 single base substitution C T intron_variant LICA-FR 22 19839028 19839028 single base substitution C A intron_variant LICA-FR 22 19839774 19839774 single base substitution C T intron_variant LIHC-US 22 19808139 19808139 single base substitution T A intron_variant LIHC-US 22 19808139 19808139 single base substitution T A missense_variant Q79L 236A>T LIHC-US 22 19839038 19839038 single base substitution T C intron_variant LINC-JP 22 19766975 19766975 single base substitution T C downstream_gene_variant LINC-JP 22 19783124 19783124 single base substitution C T intron_variant LINC-JP 22 19788432 19788432 single base substitution C T downstream_gene_variant LINC-JP 22 19788432 19788432 single base substitution C T intron_variant LINC-JP 22 19795496 19795496 single base substitution T C downstream_gene_variant LINC-JP 22 19795496 19795496 single base substitution T C intron_variant LINC-JP 22 19796873 19796873 single base substitution G A downstream_gene_variant LINC-JP 22 19796873 19796873 single base substitution G A intron_variant LINC-JP 22 19803861 19803861 single base substitution T C intron_variant LINC-JP 22 19808112 19808112 single base substitution G A intron_variant LINC-JP 22 19809622 19809622 insertion of <=200bp - C intron_variant LINC-JP 22 19812370 19812370 single base substitution A G intron_variant LINC-JP 22 19816003 19816003 single base substitution T G intron_variant LINC-JP 22 19821257 19821257 single base substitution C T intron_variant LIRI-JP 22 19766663 19766663 single base substitution T C downstream_gene_variant LIRI-JP 22 19773241 19773241 single base substitution C T 3_prime_UTR_variant LIRI-JP 22 19773241 19773241 single base substitution C T downstream_gene_variant LIRI-JP 22 19783519 19783519 insertion of <=200bp - T intron_variant LIRI-JP 22 19786858 19786858 single base substitution C T downstream_gene_variant LIRI-JP 22 19786858 19786858 single base substitution C T intron_variant LIRI-JP 22 19793186 19793186 single base substitution T A intron_variant LIRI-JP 22 19795031 19795031 single base substitution G A downstream_gene_variant LIRI-JP 22 19795031 19795031 single base substitution G A intron_variant LIRI-JP 22 19796020 19796020 single base substitution T C downstream_gene_variant LIRI-JP 22 19796020 19796020 single base substitution T C intron_variant LIRI-JP 22 19799943 19799943 single base substitution C A exon_variant LIRI-JP 22 19799943 19799943 single base substitution C A synonymous_variant L52L 156G>T LIRI-JP 22 19799943 19799943 single base substitution C A synonymous_variant L94L 282G>T LIRI-JP 22 19802839 19802839 single base substitution A G intron_variant LIRI-JP 22 19806951 19806951 single base substitution C T intron_variant LIRI-JP 22 19809316 19809316 single base substitution C A intron_variant LIRI-JP 22 19811105 19811105 single base substitution C G intron_variant LIRI-JP 22 19813220 19813220 single base substitution G C intron_variant LIRI-JP 22 19817595 19817595 single base substitution C T intron_variant LIRI-JP 22 19818325 19818325 single base substitution T C intron_variant LIRI-JP 22 19819681 19819681 single base substitution T A intron_variant LIRI-JP 22 19819953 19819953 single base substitution T C intron_variant LIRI-JP 22 19820190 19820190 single base substitution G A intron_variant LIRI-JP 22 19823607 19823607 single base substitution T C intron_variant LIRI-JP 22 19824055 19824055 single base substitution A G intron_variant LIRI-JP 22 19824580 19824580 single base substitution C A intron_variant LIRI-JP 22 19826268 19826268 single base substitution C T intron_variant LIRI-JP 22 19829554 19829554 single base substitution C A intron_variant LIRI-JP 22 19830879 19830879 single base substitution C T intron_variant LIRI-JP 22 19833353 19833353 single base substitution T C intron_variant LIRI-JP 22 19833826 19833826 single base substitution A T intron_variant LIRI-JP 22 19835269 19835269 single base substitution T G intron_variant LIRI-JP 22 19835930 19835930 single base substitution C T intron_variant LIRI-JP 22 19839070 19839070 single base substitution C T intron_variant LIRI-JP 22 19843048 19843048 single base substitution A G upstream_gene_variant LIRI-JP 22 19843671 19843671 single base substitution A T upstream_gene_variant LIRI-JP 22 19843672 19843672 single base substitution A G upstream_gene_variant LUSC-KR 22 19766782 19766782 single base substitution C T downstream_gene_variant LUSC-KR 22 19768643 19768643 single base substitution G A downstream_gene_variant LUSC-KR 22 19779909 19779909 single base substitution G C intron_variant LUSC-KR 22 19781119 19781119 single base substitution G C intron_variant LUSC-KR 22 19787894 19787894 single base substitution C G downstream_gene_variant LUSC-KR 22 19787894 19787894 single base substitution C G intron_variant LUSC-KR 22 19799811 19799811 single base substitution G A downstream_gene_variant LUSC-KR 22 19799811 19799811 single base substitution G A exon_variant LUSC-KR 22 19799811 19799811 single base substitution G A synonymous_variant D138D 414C>T LUSC-KR 22 19802436 19802436 single base substitution G A intron_variant LUSC-KR 22 19802552 19802552 single base substitution C A intron_variant LUSC-KR 22 19802581 19802581 single base substitution T A intron_variant LUSC-KR 22 19805877 19805877 single base substitution C T intron_variant LUSC-KR 22 19808185 19808185 single base substitution C G intron_variant LUSC-KR 22 19808185 19808185 single base substitution C G missense_variant D64H 190G>C LUSC-KR 22 19808769 19808769 single base substitution C T intron_variant LUSC-KR 22 19808769 19808769 single base substitution C T missense_variant R37H 110G>A LUSC-KR 22 19812613 19812613 single base substitution T C intron_variant LUSC-KR 22 19826504 19826504 single base substitution C A intron_variant LUSC-KR 22 19834564 19834564 single base substitution A C intron_variant LUSC-KR 22 19835053 19835053 single base substitution T C intron_variant LUSC-KR 22 19835868 19835868 single base substitution C T intron_variant LUSC-KR 22 19836910 19836910 single base substitution G A intron_variant LUSC-KR 22 19839214 19839214 single base substitution C T intron_variant LUSC-KR 22 19841036 19841036 single base substitution C T intron_variant LUSC-KR 22 19841946 19841946 single base substitution G A intron_variant LUSC-KR 22 19843243 19843243 single base substitution T G upstream_gene_variant LUSC-US 22 19799846 19799846 single base substitution G A exon_variant LUSC-US 22 19799846 19799846 single base substitution G A missense_variant R127C 379C>T LUSC-US 22 19799846 19799846 single base substitution G A missense_variant R85C 253C>T LUSC-US 22 19799876 19799876 single base substitution G A exon_variant LUSC-US 22 19799876 19799876 single base substitution G A missense_variant R117W 349C>T LUSC-US 22 19799876 19799876 single base substitution G A missense_variant R75W 223C>T LUSC-US 22 19839124 19839124 single base substitution C G intron_variant MALY-DE 22 19780785 19780785 single base substitution A G intron_variant MALY-DE 22 19787830 19787830 single base substitution C T downstream_gene_variant MALY-DE 22 19787830 19787830 single base substitution C T intron_variant MALY-DE 22 19790043 19790043 single base substitution T A intron_variant MALY-DE 22 19807987 19807987 single base substitution C T intron_variant MALY-DE 22 19808665 19808665 single base substitution C T intron_variant MALY-DE 22 19817106 19817106 single base substitution T C intron_variant MALY-DE 22 19831038 19831038 single base substitution G C intron_variant MALY-DE 22 19841600 19841611 deletion of <=200bp ACCCTGGGCCGC - intron_variant MALY-DE 22 19842351 19842351 single base substitution C T 5_prime_UTR_variant MALY-DE 22 19842351 19842351 single base substitution C T upstream_gene_variant MALY-DE 22 19845281 19845281 single base substitution C T upstream_gene_variant MALY-DE 22 19846766 19846766 single base substitution C T upstream_gene_variant MELA-AU 22 19765831 19765831 single base substitution C T downstream_gene_variant MELA-AU 22 19765839 19765839 single base substitution G A downstream_gene_variant MELA-AU 22 19765850 19765850 single base substitution C T downstream_gene_variant MELA-AU 22 19766454 19766454 single base substitution A C downstream_gene_variant MELA-AU 22 19766853 19766853 single base substitution C T downstream_gene_variant MELA-AU 22 19766876 19766876 single base substitution C T downstream_gene_variant MELA-AU 22 19766936 19766936 single base substitution G A downstream_gene_variant MELA-AU 22 19767086 19767087 deletion of <=200bp CA - downstream_gene_variant MELA-AU 22 19767474 19767474 single base substitution G A downstream_gene_variant MELA-AU 22 19768777 19768777 deletion of <=200bp T - downstream_gene_variant MELA-AU 22 19769328 19769329 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 22 19769918 19769918 single base substitution T A downstream_gene_variant MELA-AU 22 19769956 19769956 single base substitution C T downstream_gene_variant MELA-AU 22 19770047 19770047 single base substitution C T downstream_gene_variant MELA-AU 22 19770810 19770810 single base substitution G A 3_prime_UTR_variant MELA-AU 22 19771321 19771321 single base substitution C T 3_prime_UTR_variant MELA-AU 22 19771321 19771321 single base substitution C T downstream_gene_variant MELA-AU 22 19771523 19771523 single base substitution G C 3_prime_UTR_variant MELA-AU 22 19771523 19771523 single base substitution G C downstream_gene_variant MELA-AU 22 19771793 19771793 single base substitution G A 3_prime_UTR_variant MELA-AU 22 19771793 19771793 single base substitution G A downstream_gene_variant MELA-AU 22 19771846 19771846 single base substitution G A 3_prime_UTR_variant MELA-AU 22 19771846 19771846 single base substitution G A downstream_gene_variant MELA-AU 22 19771902 19771902 single base substitution C T 3_prime_UTR_variant MELA-AU 22 19771902 19771902 single base substitution C T downstream_gene_variant MELA-AU 22 19772024 19772024 single base substitution G A 3_prime_UTR_variant MELA-AU 22 19772024 19772024 single base substitution G A downstream_gene_variant MELA-AU 22 19772442 19772442 single base substitution G A 3_prime_UTR_variant MELA-AU 22 19772442 19772442 single base substitution G A downstream_gene_variant MELA-AU 22 19772900 19772900 single base substitution C T 3_prime_UTR_variant MELA-AU 22 19772900 19772900 single base substitution C T downstream_gene_variant MELA-AU 22 19773157 19773157 single base substitution G A 3_prime_UTR_variant MELA-AU 22 19773157 19773157 single base substitution G A downstream_gene_variant MELA-AU 22 19773641 19773641 single base substitution A G 3_prime_UTR_variant MELA-AU 22 19773641 19773641 single base substitution A G downstream_gene_variant MELA-AU 22 19774306 19774306 single base substitution C T 3_prime_UTR_variant MELA-AU 22 19774306 19774306 single base substitution C T downstream_gene_variant MELA-AU 22 19774622 19774622 single base substitution G A 3_prime_UTR_variant MELA-AU 22 19774622 19774622 single base substitution G A downstream_gene_variant MELA-AU 22 19774972 19774972 single base substitution C T 3_prime_UTR_variant MELA-AU 22 19774972 19774972 single base substitution C T downstream_gene_variant MELA-AU 22 19775538 19775538 single base substitution C G 3_prime_UTR_variant MELA-AU 22 19775538 19775538 single base substitution C G downstream_gene_variant MELA-AU 22 19775947 19775947 single base substitution G A 3_prime_UTR_variant MELA-AU 22 19775947 19775947 single base substitution G A downstream_gene_variant MELA-AU 22 19776084 19776084 single base substitution C T 3_prime_UTR_variant MELA-AU 22 19776084 19776084 single base substitution C T exon_variant MELA-AU 22 19776455 19776455 single base substitution G A exon_variant MELA-AU 22 19776455 19776455 single base substitution G A intron_variant MELA-AU 22 19776455 19776455 single base substitution G A missense_variant P254L 761C>T MELA-AU 22 19777001 19777001 single base substitution G A intron_variant MELA-AU 22 19777400 19777400 single base substitution T C intron_variant MELA-AU 22 19778470 19778470 single base substitution G A intron_variant MELA-AU 22 19778848 19778848 single base substitution G A intron_variant MELA-AU 22 19779130 19779130 single base substitution G A intron_variant MELA-AU 22 19779418 19779418 single base substitution G A intron_variant MELA-AU 22 19779720 19779720 single base substitution C T intron_variant MELA-AU 22 19779827 19779827 single base substitution G A intron_variant MELA-AU 22 19780154 19780154 single base substitution G A intron_variant MELA-AU 22 19780507 19780507 single base substitution G A intron_variant MELA-AU 22 19780646 19780646 single base substitution A G intron_variant MELA-AU 22 19780847 19780847 single base substitution C G intron_variant MELA-AU 22 19781058 19781058 single base substitution C T intron_variant MELA-AU 22 19781606 19781606 single base substitution C T intron_variant MELA-AU 22 19781783 19781783 single base substitution G A intron_variant MELA-AU 22 19782083 19782083 single base substitution G A intron_variant MELA-AU 22 19782282 19782282 single base substitution G A intron_variant MELA-AU 22 19782949 19782949 single base substitution G A intron_variant MELA-AU 22 19783134 19783134 single base substitution G A intron_variant MELA-AU 22 19783312 19783312 single base substitution G T intron_variant MELA-AU 22 19783717 19783717 single base substitution C A intron_variant MELA-AU 22 19783870 19783871 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 19783939 19783939 single base substitution C T intron_variant MELA-AU 22 19784107 19784107 single base substitution T C intron_variant MELA-AU 22 19784384 19784384 single base substitution G A intron_variant MELA-AU 22 19785693 19785693 single base substitution G A downstream_gene_variant MELA-AU 22 19785693 19785693 single base substitution G A intron_variant MELA-AU 22 19785723 19785723 single base substitution G A downstream_gene_variant MELA-AU 22 19785723 19785723 single base substitution G A intron_variant MELA-AU 22 19785827 19785827 single base substitution G A downstream_gene_variant MELA-AU 22 19785827 19785827 single base substitution G A intron_variant MELA-AU 22 19786268 19786268 single base substitution C T downstream_gene_variant MELA-AU 22 19786268 19786268 single base substitution C T intron_variant MELA-AU 22 19786295 19786295 single base substitution G A downstream_gene_variant MELA-AU 22 19786295 19786295 single base substitution G A intron_variant MELA-AU 22 19786337 19786337 single base substitution A C downstream_gene_variant MELA-AU 22 19786337 19786337 single base substitution A C intron_variant MELA-AU 22 19786463 19786463 single base substitution C T downstream_gene_variant MELA-AU 22 19786463 19786463 single base substitution C T intron_variant MELA-AU 22 19786551 19786552 multiple base substitution (>=2bp and <=200bp) AC TT downstream_gene_variant MELA-AU 22 19786551 19786552 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 22 19786652 19786652 single base substitution C T downstream_gene_variant MELA-AU 22 19786652 19786652 single base substitution C T intron_variant MELA-AU 22 19786729 19786729 single base substitution G A downstream_gene_variant MELA-AU 22 19786729 19786729 single base substitution G A intron_variant MELA-AU 22 19786900 19786900 single base substitution C T downstream_gene_variant MELA-AU 22 19786900 19786900 single base substitution C T intron_variant MELA-AU 22 19787389 19787389 single base substitution G A downstream_gene_variant MELA-AU 22 19787389 19787389 single base substitution G A intron_variant MELA-AU 22 19787798 19787798 single base substitution G A downstream_gene_variant MELA-AU 22 19787798 19787798 single base substitution G A intron_variant MELA-AU 22 19788169 19788169 single base substitution G A downstream_gene_variant MELA-AU 22 19788169 19788169 single base substitution G A intron_variant MELA-AU 22 19788588 19788588 single base substitution C T downstream_gene_variant MELA-AU 22 19788588 19788588 single base substitution C T intron_variant MELA-AU 22 19788681 19788681 single base substitution C T downstream_gene_variant MELA-AU 22 19788681 19788681 single base substitution C T intron_variant MELA-AU 22 19789241 19789241 single base substitution G A downstream_gene_variant MELA-AU 22 19789241 19789241 single base substitution G A intron_variant MELA-AU 22 19790444 19790445 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 19790637 19790637 single base substitution G A intron_variant MELA-AU 22 19791060 19791060 single base substitution G A intron_variant MELA-AU 22 19791762 19791762 single base substitution C A intron_variant MELA-AU 22 19792481 19792481 single base substitution G A intron_variant MELA-AU 22 19793465 19793465 single base substitution C G intron_variant MELA-AU 22 19793857 19793857 single base substitution G A intron_variant MELA-AU 22 19794071 19794071 single base substitution G A intron_variant MELA-AU 22 19794401 19794401 single base substitution G A intron_variant MELA-AU 22 19794629 19794629 single base substitution G A intron_variant MELA-AU 22 19794784 19794784 single base substitution G A intron_variant MELA-AU 22 19795026 19795026 single base substitution C T downstream_gene_variant MELA-AU 22 19795026 19795026 single base substitution C T intron_variant MELA-AU 22 19795519 19795519 single base substitution G A downstream_gene_variant MELA-AU 22 19795519 19795519 single base substitution G A intron_variant MELA-AU 22 19796175 19796175 single base substitution G A downstream_gene_variant MELA-AU 22 19796175 19796175 single base substitution G A intron_variant MELA-AU 22 19796185 19796186 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 19796185 19796186 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 19796719 19796719 single base substitution G A downstream_gene_variant MELA-AU 22 19796719 19796719 single base substitution G A intron_variant MELA-AU 22 19797190 19797190 single base substitution C T downstream_gene_variant MELA-AU 22 19797190 19797190 single base substitution C T intron_variant MELA-AU 22 19797224 19797224 single base substitution G A downstream_gene_variant MELA-AU 22 19797224 19797224 single base substitution G A intron_variant MELA-AU 22 19797420 19797420 single base substitution C T downstream_gene_variant MELA-AU 22 19797420 19797420 single base substitution C T intron_variant MELA-AU 22 19797701 19797701 single base substitution C T downstream_gene_variant MELA-AU 22 19797701 19797701 single base substitution C T intron_variant MELA-AU 22 19797723 19797723 single base substitution C T downstream_gene_variant MELA-AU 22 19797723 19797723 single base substitution C T intron_variant MELA-AU 22 19797738 19797738 single base substitution G A downstream_gene_variant MELA-AU 22 19797738 19797738 single base substitution G A intron_variant MELA-AU 22 19797916 19797916 single base substitution G A downstream_gene_variant MELA-AU 22 19797916 19797916 single base substitution G A intron_variant MELA-AU 22 19798013 19798013 single base substitution T G downstream_gene_variant MELA-AU 22 19798013 19798013 single base substitution T G intron_variant MELA-AU 22 19798182 19798182 single base substitution G A downstream_gene_variant MELA-AU 22 19798182 19798182 single base substitution G A intron_variant MELA-AU 22 19798319 19798319 single base substitution G A downstream_gene_variant MELA-AU 22 19798319 19798319 single base substitution G A intron_variant MELA-AU 22 19799823 19799823 single base substitution C T exon_variant MELA-AU 22 19799823 19799823 single base substitution C T synonymous_variant G134G 402G>A MELA-AU 22 19799823 19799823 single base substitution C T synonymous_variant G92G 276G>A MELA-AU 22 19800102 19800102 single base substitution G A intron_variant MELA-AU 22 19800330 19800330 single base substitution A T intron_variant MELA-AU 22 19800619 19800619 single base substitution G A intron_variant MELA-AU 22 19800751 19800752 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 19800813 19800813 single base substitution G A intron_variant MELA-AU 22 19801012 19801012 single base substitution C T intron_variant MELA-AU 22 19801121 19801121 single base substitution G A intron_variant MELA-AU 22 19801546 19801546 single base substitution G A intron_variant MELA-AU 22 19801779 19801779 single base substitution G A intron_variant MELA-AU 22 19801869 19801869 single base substitution G A intron_variant MELA-AU 22 19801878 19801878 single base substitution G A intron_variant MELA-AU 22 19801898 19801898 single base substitution C T intron_variant MELA-AU 22 19801964 19801964 single base substitution A G intron_variant MELA-AU 22 19802019 19802019 single base substitution G A intron_variant MELA-AU 22 19802347 19802347 single base substitution G A intron_variant MELA-AU 22 19803007 19803007 single base substitution G A intron_variant MELA-AU 22 19803079 19803079 single base substitution G A intron_variant MELA-AU 22 19803166 19803166 single base substitution G A intron_variant MELA-AU 22 19803207 19803207 single base substitution T G intron_variant MELA-AU 22 19803325 19803325 single base substitution G A intron_variant MELA-AU 22 19803980 19803980 single base substitution C T intron_variant MELA-AU 22 19803985 19803985 single base substitution G A intron_variant MELA-AU 22 19804444 19804444 single base substitution C T intron_variant MELA-AU 22 19804567 19804567 single base substitution G A intron_variant MELA-AU 22 19804980 19804980 single base substitution G A intron_variant MELA-AU 22 19805264 19805264 single base substitution G A intron_variant MELA-AU 22 19805277 19805277 single base substitution G A intron_variant MELA-AU 22 19805317 19805317 single base substitution G A intron_variant MELA-AU 22 19806202 19806202 single base substitution C T intron_variant MELA-AU 22 19806410 19806410 single base substitution G A intron_variant MELA-AU 22 19806609 19806609 single base substitution C T intron_variant MELA-AU 22 19806885 19806885 single base substitution G A intron_variant MELA-AU 22 19807024 19807024 single base substitution C T intron_variant MELA-AU 22 19807126 19807126 single base substitution G A intron_variant MELA-AU 22 19807198 19807198 single base substitution G A intron_variant MELA-AU 22 19807351 19807351 single base substitution G A intron_variant MELA-AU 22 19807978 19807986 deletion of <=200bp CTGCCCTTG - intron_variant MELA-AU 22 19808045 19808045 single base substitution G A intron_variant MELA-AU 22 19809025 19809025 single base substitution G A intron_variant MELA-AU 22 19809543 19809543 single base substitution G A intron_variant MELA-AU 22 19809685 19809685 single base substitution C T intron_variant MELA-AU 22 19809691 19809691 single base substitution G A intron_variant MELA-AU 22 19809820 19809820 single base substitution G A intron_variant MELA-AU 22 19810018 19810018 single base substitution C T intron_variant MELA-AU 22 19810070 19810070 single base substitution G A intron_variant MELA-AU 22 19810240 19810240 single base substitution G A intron_variant MELA-AU 22 19810343 19810343 single base substitution G A intron_variant MELA-AU 22 19810363 19810363 single base substitution C T intron_variant MELA-AU 22 19810563 19810563 single base substitution G A intron_variant MELA-AU 22 19812568 19812568 single base substitution C T intron_variant MELA-AU 22 19812639 19812639 single base substitution G A intron_variant MELA-AU 22 19812724 19812724 single base substitution C T intron_variant MELA-AU 22 19814125 19814125 single base substitution G A intron_variant MELA-AU 22 19814341 19814341 single base substitution A G intron_variant MELA-AU 22 19814407 19814407 single base substitution C T intron_variant MELA-AU 22 19814483 19814483 single base substitution G A intron_variant MELA-AU 22 19814594 19814594 single base substitution G A intron_variant MELA-AU 22 19814882 19814882 single base substitution G A intron_variant MELA-AU 22 19815295 19815295 single base substitution A G intron_variant MELA-AU 22 19815568 19815568 single base substitution C T intron_variant MELA-AU 22 19815632 19815632 single base substitution C T intron_variant MELA-AU 22 19815658 19815658 single base substitution T A intron_variant MELA-AU 22 19815733 19815733 single base substitution G C intron_variant MELA-AU 22 19815747 19815747 single base substitution G C intron_variant MELA-AU 22 19815774 19815774 single base substitution G C intron_variant MELA-AU 22 19815838 19815838 single base substitution G A intron_variant MELA-AU 22 19816001 19816001 single base substitution G A intron_variant MELA-AU 22 19816073 19816073 deletion of <=200bp G - intron_variant MELA-AU 22 19816113 19816113 single base substitution G A intron_variant MELA-AU 22 19816120 19816120 single base substitution G A intron_variant MELA-AU 22 19816810 19816811 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 19817213 19817213 single base substitution G A intron_variant MELA-AU 22 19817424 19817424 single base substitution G A intron_variant MELA-AU 22 19817507 19817507 single base substitution C A intron_variant MELA-AU 22 19818041 19818041 single base substitution T C intron_variant MELA-AU 22 19818916 19818916 single base substitution G A intron_variant MELA-AU 22 19819141 19819141 single base substitution G A intron_variant MELA-AU 22 19819240 19819240 single base substitution G A intron_variant MELA-AU 22 19820138 19820138 single base substitution G A intron_variant MELA-AU 22 19820200 19820200 single base substitution G T intron_variant MELA-AU 22 19820403 19820403 single base substitution G A intron_variant MELA-AU 22 19820596 19820596 single base substitution G A intron_variant MELA-AU 22 19820820 19820820 single base substitution G A intron_variant MELA-AU 22 19820882 19820882 single base substitution C T intron_variant MELA-AU 22 19821457 19821457 single base substitution G A intron_variant MELA-AU 22 19821625 19821625 single base substitution G A intron_variant MELA-AU 22 19821866 19821866 single base substitution G A intron_variant MELA-AU 22 19822805 19822805 single base substitution C T intron_variant MELA-AU 22 19823116 19823116 single base substitution G T intron_variant MELA-AU 22 19823190 19823190 single base substitution C T intron_variant MELA-AU 22 19823259 19823259 single base substitution A G intron_variant MELA-AU 22 19823307 19823307 single base substitution G A intron_variant MELA-AU 22 19823569 19823569 single base substitution G A intron_variant MELA-AU 22 19823771 19823771 single base substitution G A intron_variant MELA-AU 22 19823908 19823908 single base substitution A G intron_variant MELA-AU 22 19823915 19823915 deletion of <=200bp G - intron_variant MELA-AU 22 19823918 19823918 single base substitution G A intron_variant MELA-AU 22 19824394 19824394 single base substitution C T intron_variant MELA-AU 22 19824553 19824553 single base substitution G A intron_variant MELA-AU 22 19824625 19824625 single base substitution G A intron_variant MELA-AU 22 19824701 19824701 single base substitution G A intron_variant MELA-AU 22 19824908 19824908 single base substitution G A intron_variant MELA-AU 22 19825033 19825033 single base substitution G A intron_variant MELA-AU 22 19825162 19825162 single base substitution G A intron_variant MELA-AU 22 19825294 19825294 single base substitution C T intron_variant MELA-AU 22 19826117 19826117 single base substitution C T intron_variant MELA-AU 22 19826513 19826513 single base substitution G A intron_variant MELA-AU 22 19827170 19827170 single base substitution G A intron_variant MELA-AU 22 19827416 19827416 single base substitution C T intron_variant MELA-AU 22 19827510 19827510 single base substitution C T intron_variant MELA-AU 22 19827958 19827958 single base substitution G A intron_variant MELA-AU 22 19828051 19828051 single base substitution G A intron_variant MELA-AU 22 19828457 19828457 single base substitution G A intron_variant MELA-AU 22 19829148 19829148 single base substitution G A intron_variant MELA-AU 22 19829192 19829192 single base substitution A G intron_variant MELA-AU 22 19829543 19829543 single base substitution G A intron_variant MELA-AU 22 19829961 19829961 single base substitution T C intron_variant MELA-AU 22 19830100 19830100 single base substitution C T intron_variant MELA-AU 22 19830290 19830290 single base substitution G A intron_variant MELA-AU 22 19830600 19830600 single base substitution G A intron_variant MELA-AU 22 19830811 19830812 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 19830874 19830874 single base substitution G A intron_variant MELA-AU 22 19830969 19830969 single base substitution G A intron_variant MELA-AU 22 19830989 19830989 single base substitution G A intron_variant MELA-AU 22 19831679 19831679 single base substitution C A intron_variant MELA-AU 22 19833230 19833230 single base substitution G A intron_variant MELA-AU 22 19833717 19833717 single base substitution G A intron_variant MELA-AU 22 19833737 19833737 single base substitution C T intron_variant MELA-AU 22 19834272 19834272 single base substitution G A intron_variant MELA-AU 22 19834377 19834377 single base substitution G A intron_variant MELA-AU 22 19834512 19834512 single base substitution G A intron_variant MELA-AU 22 19834517 19834517 single base substitution G A intron_variant MELA-AU 22 19834768 19834768 single base substitution G A intron_variant MELA-AU 22 19835140 19835140 single base substitution G A intron_variant MELA-AU 22 19835161 19835161 single base substitution A G intron_variant MELA-AU 22 19835637 19835637 single base substitution G A intron_variant MELA-AU 22 19836906 19836906 single base substitution T G intron_variant MELA-AU 22 19836907 19836907 single base substitution T G intron_variant MELA-AU 22 19837559 19837560 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 19837952 19837952 single base substitution G A intron_variant MELA-AU 22 19838455 19838455 single base substitution G A intron_variant MELA-AU 22 19838486 19838486 single base substitution G A intron_variant MELA-AU 22 19838852 19838852 single base substitution G A intron_variant MELA-AU 22 19838873 19838873 single base substitution C T intron_variant MELA-AU 22 19839149 19839149 single base substitution C T intron_variant MELA-AU 22 19839340 19839341 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 19840126 19840126 single base substitution G A intron_variant MELA-AU 22 19840235 19840235 single base substitution G A intron_variant MELA-AU 22 19841172 19841172 single base substitution C T intron_variant MELA-AU 22 19841921 19841921 single base substitution G A intron_variant MELA-AU 22 19842344 19842344 single base substitution C G 5_prime_UTR_variant MELA-AU 22 19842344 19842344 single base substitution C G splice_region_variant MELA-AU 22 19842344 19842344 single base substitution C G upstream_gene_variant MELA-AU 22 19842983 19842983 single base substitution C T upstream_gene_variant MELA-AU 22 19843395 19843395 single base substitution C T upstream_gene_variant MELA-AU 22 19843445 19843445 single base substitution A T upstream_gene_variant MELA-AU 22 19843761 19843761 single base substitution T C upstream_gene_variant MELA-AU 22 19844691 19844691 single base substitution C T upstream_gene_variant MELA-AU 22 19844981 19844981 single base substitution C T upstream_gene_variant MELA-AU 22 19845459 19845459 single base substitution C T upstream_gene_variant MELA-AU 22 19845641 19845641 single base substitution C T upstream_gene_variant MELA-AU 22 19846295 19846298 deletion of <=200bp CTTC - upstream_gene_variant MELA-AU 22 19846512 19846512 single base substitution C T upstream_gene_variant MELA-AU 22 19847078 19847078 single base substitution A C upstream_gene_variant ORCA-IN 22 19768849 19768849 single base substitution C T downstream_gene_variant ORCA-IN 22 19775119 19775119 single base substitution C T 3_prime_UTR_variant ORCA-IN 22 19775119 19775119 single base substitution C T downstream_gene_variant ORCA-IN 22 19779427 19779427 single base substitution A C intron_variant ORCA-IN 22 19823300 19823300 single base substitution C A intron_variant ORCA-IN 22 19830715 19830715 single base substitution C T intron_variant OV-AU 22 19765924 19765924 single base substitution A G downstream_gene_variant OV-AU 22 19771884 19771884 single base substitution C A 3_prime_UTR_variant OV-AU 22 19771884 19771884 single base substitution C A downstream_gene_variant OV-AU 22 19773006 19773006 single base substitution T G 3_prime_UTR_variant OV-AU 22 19773006 19773006 single base substitution T G downstream_gene_variant OV-AU 22 19776357 19776357 single base substitution G C exon_variant OV-AU 22 19776357 19776357 single base substitution G C intron_variant OV-AU 22 19776357 19776357 single base substitution G C missense_variant P287A 859C>G OV-AU 22 19782011 19782011 single base substitution G C intron_variant OV-AU 22 19785008 19785008 single base substitution G C downstream_gene_variant OV-AU 22 19785008 19785008 single base substitution G C intron_variant OV-AU 22 19788548 19788548 single base substitution C G downstream_gene_variant OV-AU 22 19788548 19788548 single base substitution C G intron_variant OV-AU 22 19789943 19789943 single base substitution G C intron_variant OV-AU 22 19792626 19792626 single base substitution T G intron_variant OV-AU 22 19794812 19794812 single base substitution G T intron_variant OV-AU 22 19799092 19799092 single base substitution C G downstream_gene_variant OV-AU 22 19799092 19799092 single base substitution C G intron_variant OV-AU 22 19800537 19800537 single base substitution C T intron_variant OV-AU 22 19805770 19805770 single base substitution T C intron_variant OV-AU 22 19811616 19811616 single base substitution C A intron_variant OV-AU 22 19813427 19813427 single base substitution G C intron_variant OV-AU 22 19816817 19816817 single base substitution G T intron_variant OV-AU 22 19822549 19822549 single base substitution G A intron_variant OV-AU 22 19827413 19827413 single base substitution T C intron_variant OV-AU 22 19834687 19834687 single base substitution C T intron_variant OV-AU 22 19842180 19842180 single base substitution G A 5_prime_UTR_variant OV-AU 22 19842180 19842180 single base substitution G A exon_variant OV-AU 22 19842180 19842180 single base substitution G A intron_variant OV-AU 22 19842186 19842186 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant OV-AU 22 19842186 19842186 single base substitution G C exon_variant OV-AU 22 19842186 19842186 single base substitution G C intron_variant OV-AU 22 19843391 19843391 single base substitution G C upstream_gene_variant PACA-AU 22 19771605 19771605 single base substitution C T 3_prime_UTR_variant PACA-AU 22 19771605 19771605 single base substitution C T downstream_gene_variant PACA-AU 22 19787579 19787579 single base substitution C T downstream_gene_variant PACA-AU 22 19787579 19787579 single base substitution C T intron_variant PACA-AU 22 19787655 19787655 insertion of <=200bp - C downstream_gene_variant PACA-AU 22 19787655 19787655 insertion of <=200bp - C intron_variant PACA-AU 22 19790468 19790468 single base substitution G A intron_variant PACA-AU 22 19791796 19791796 single base substitution G A intron_variant PACA-AU 22 19792481 19792481 single base substitution G A intron_variant PACA-AU 22 19796363 19796363 single base substitution G A downstream_gene_variant PACA-AU 22 19796363 19796363 single base substitution G A intron_variant PACA-AU 22 19799472 19799472 single base substitution G A downstream_gene_variant PACA-AU 22 19799472 19799472 single base substitution G A intron_variant PACA-AU 22 19799831 19799831 single base substitution C A exon_variant PACA-AU 22 19799831 19799831 single base substitution C A missense_variant V132L 394G>T PACA-AU 22 19799831 19799831 single base substitution C A missense_variant V90L 268G>T PACA-AU 22 19800673 19800673 single base substitution C A intron_variant PACA-AU 22 19805727 19805727 single base substitution G A intron_variant PACA-AU 22 19806666 19806666 single base substitution C T intron_variant PACA-AU 22 19808558 19808559 deletion of <=200bp GT - intron_variant PACA-AU 22 19808805 19808805 single base substitution G A intron_variant PACA-AU 22 19808805 19808805 single base substitution G A missense_variant A25V 74C>T PACA-AU 22 19809581 19809581 single base substitution T A intron_variant PACA-AU 22 19810299 19810299 single base substitution G A intron_variant PACA-AU 22 19817370 19817371 deletion of <=200bp AT - intron_variant PACA-AU 22 19818898 19818898 single base substitution A C intron_variant PACA-AU 22 19823861 19823861 single base substitution G C intron_variant PACA-AU 22 19829926 19829926 single base substitution G A intron_variant PACA-AU 22 19831462 19831462 single base substitution T C intron_variant PACA-AU 22 19832605 19832605 single base substitution C T intron_variant PACA-AU 22 19844905 19844905 single base substitution T C upstream_gene_variant PACA-CA 22 19767016 19767016 single base substitution C T downstream_gene_variant PACA-CA 22 19775595 19775595 single base substitution G C 3_prime_UTR_variant PACA-CA 22 19775595 19775595 single base substitution G C downstream_gene_variant PACA-CA 22 19776214 19776214 single base substitution G A 3_prime_UTR_variant PACA-CA 22 19776214 19776214 single base substitution G A exon_variant PACA-CA 22 19776214 19776214 single base substitution G A intron_variant PACA-CA 22 19779449 19779449 single base substitution C A intron_variant PACA-CA 22 19781882 19781882 single base substitution C T intron_variant PACA-CA 22 19784427 19784427 single base substitution C T intron_variant PACA-CA 22 19784461 19784461 single base substitution G T intron_variant PACA-CA 22 19785098 19785098 single base substitution C T downstream_gene_variant PACA-CA 22 19785098 19785098 single base substitution C T intron_variant PACA-CA 22 19786448 19786448 single base substitution G T downstream_gene_variant PACA-CA 22 19786448 19786448 single base substitution G T intron_variant PACA-CA 22 19788125 19788125 single base substitution G A downstream_gene_variant PACA-CA 22 19788125 19788125 single base substitution G A intron_variant PACA-CA 22 19790516 19790516 single base substitution T C intron_variant PACA-CA 22 19795194 19795194 single base substitution T C downstream_gene_variant PACA-CA 22 19795194 19795194 single base substitution T C intron_variant PACA-CA 22 19798452 19798452 insertion of <=200bp - G downstream_gene_variant PACA-CA 22 19798452 19798452 insertion of <=200bp - G intron_variant PACA-CA 22 19810832 19810832 single base substitution C T intron_variant PACA-CA 22 19811338 19811338 single base substitution G A intron_variant PACA-CA 22 19811495 19811495 single base substitution C G intron_variant PACA-CA 22 19814017 19814017 single base substitution G A intron_variant PACA-CA 22 19818720 19818720 single base substitution C T intron_variant PACA-CA 22 19818986 19818986 single base substitution G A intron_variant PACA-CA 22 19819577 19819577 single base substitution G T intron_variant PACA-CA 22 19820102 19820102 single base substitution G A intron_variant PACA-CA 22 19821114 19821114 single base substitution C T intron_variant PACA-CA 22 19821174 19821174 single base substitution G T intron_variant PACA-CA 22 19822334 19822334 single base substitution A C intron_variant PACA-CA 22 19822928 19822928 single base substitution A C intron_variant PACA-CA 22 19824828 19824828 single base substitution C G intron_variant PACA-CA 22 19825636 19825636 single base substitution C T intron_variant PACA-CA 22 19828430 19828430 single base substitution G A intron_variant PACA-CA 22 19830518 19830518 single base substitution G A intron_variant PACA-CA 22 19830982 19830982 deletion of <=200bp C - intron_variant PACA-CA 22 19833503 19833503 single base substitution G A intron_variant PACA-CA 22 19840768 19840768 single base substitution C T intron_variant PACA-CA 22 19843594 19843594 single base substitution T G upstream_gene_variant PAEN-IT 22 19770161 19770161 single base substitution G T downstream_gene_variant PAEN-IT 22 19774573 19774573 single base substitution T A 3_prime_UTR_variant PAEN-IT 22 19774573 19774573 single base substitution T A downstream_gene_variant PBCA-DE 22 19782867 19782867 insertion of <=200bp - A intron_variant PBCA-DE 22 19782962 19782962 single base substitution C T intron_variant PBCA-DE 22 19785950 19785950 single base substitution G A downstream_gene_variant PBCA-DE 22 19785950 19785950 single base substitution G A intron_variant PBCA-DE 22 19786097 19786097 single base substitution G A downstream_gene_variant PBCA-DE 22 19786097 19786097 single base substitution G A intron_variant PBCA-DE 22 19787329 19787329 single base substitution C T downstream_gene_variant PBCA-DE 22 19787329 19787329 single base substitution C T intron_variant PBCA-DE 22 19790869 19790869 single base substitution C T intron_variant PBCA-DE 22 19805011 19805011 insertion of <=200bp - A intron_variant PBCA-DE 22 19808206 19808206 single base substitution G A intron_variant PBCA-DE 22 19808206 19808206 single base substitution G A missense_variant R57W 169C>T PBCA-DE 22 19808558 19808559 deletion of <=200bp GT - intron_variant PBCA-DE 22 19812364 19812364 single base substitution G A intron_variant PBCA-DE 22 19815392 19815392 single base substitution C T intron_variant PBCA-DE 22 19815847 19815850 deletion of <=200bp AGAT - intron_variant PBCA-DE 22 19817824 19817824 insertion of <=200bp - A intron_variant PBCA-DE 22 19818269 19818269 insertion of <=200bp - A intron_variant PBCA-DE 22 19830667 19830667 single base substitution G T intron_variant PBCA-DE 22 19840507 19840508 deletion of <=200bp CT - intron_variant PRAD-CA 22 19808613 19808613 single base substitution T G intron_variant PRAD-CA 22 19840217 19840217 single base substitution G T intron_variant PRAD-UK 22 19769942 19769943 deletion of <=200bp TT - downstream_gene_variant PRAD-UK 22 19790228 19790228 single base substitution G A intron_variant PRAD-UK 22 19790913 19790937 deletion of <=200bp GCCTCATCCCAAGTCATGCCCCGCT - intron_variant PRAD-UK 22 19792502 19792502 single base substitution G A intron_variant PRAD-UK 22 19796577 19796577 single base substitution T A downstream_gene_variant PRAD-UK 22 19796577 19796577 single base substitution T A intron_variant PRAD-UK 22 19798287 19798287 single base substitution G A downstream_gene_variant PRAD-UK 22 19798287 19798287 single base substitution G A intron_variant PRAD-UK 22 19810915 19810915 single base substitution C A intron_variant PRAD-US 22 19789726 19789726 single base substitution G T exon_variant PRAD-US 22 19789726 19789726 single base substitution G T missense_variant S177Y 530C>A PRAD-US 22 19808139 19808139 single base substitution T G intron_variant PRAD-US 22 19808139 19808139 single base substitution T G missense_variant Q79P 236A>C PRAD-US 22 19838698 19838698 single base substitution C G intron_variant READ-US 22 19789706 19789706 single base substitution C T exon_variant READ-US 22 19789706 19789706 single base substitution C T missense_variant G184S 550G>A RECA-EU 22 19795388 19795388 single base substitution T C downstream_gene_variant RECA-EU 22 19795388 19795388 single base substitution T C intron_variant RECA-EU 22 19796213 19796213 single base substitution T A downstream_gene_variant RECA-EU 22 19796213 19796213 single base substitution T A intron_variant RECA-EU 22 19796994 19796994 single base substitution C G downstream_gene_variant RECA-EU 22 19796994 19796994 single base substitution C G intron_variant RECA-EU 22 19801079 19801079 single base substitution C G intron_variant RECA-EU 22 19814861 19814861 single base substitution T C intron_variant RECA-EU 22 19814862 19814862 single base substitution G T intron_variant RECA-EU 22 19834707 19834707 single base substitution T A intron_variant RECA-EU 22 19835558 19835558 single base substitution T C intron_variant RECA-EU 22 19841516 19841516 single base substitution C T intron_variant RECA-EU 22 19843638 19843638 single base substitution A G upstream_gene_variant SKCA-BR 22 19765980 19765980 single base substitution G A downstream_gene_variant SKCA-BR 22 19767911 19767911 single base substitution C G downstream_gene_variant SKCA-BR 22 19770207 19770207 single base substitution T G downstream_gene_variant SKCA-BR 22 19770273 19770273 single base substitution G A downstream_gene_variant SKCA-BR 22 19771848 19771848 single base substitution T G 3_prime_UTR_variant SKCA-BR 22 19771848 19771848 single base substitution T G downstream_gene_variant SKCA-BR 22 19772429 19772429 single base substitution G A 3_prime_UTR_variant SKCA-BR 22 19772429 19772429 single base substitution G A downstream_gene_variant SKCA-BR 22 19772678 19772678 single base substitution G A 3_prime_UTR_variant SKCA-BR 22 19772678 19772678 single base substitution G A downstream_gene_variant SKCA-BR 22 19777943 19777943 single base substitution G A intron_variant SKCA-BR 22 19778546 19778546 single base substitution G A intron_variant SKCA-BR 22 19779341 19779341 single base substitution G A intron_variant SKCA-BR 22 19784875 19784875 single base substitution T G downstream_gene_variant SKCA-BR 22 19784875 19784875 single base substitution T G intron_variant SKCA-BR 22 19784901 19784902 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 22 19784901 19784902 deletion of <=200bp CT - intron_variant SKCA-BR 22 19790095 19790095 single base substitution A C intron_variant SKCA-BR 22 19790099 19790099 single base substitution A C intron_variant SKCA-BR 22 19790262 19790262 single base substitution G A intron_variant SKCA-BR 22 19791101 19791101 single base substitution T C intron_variant SKCA-BR 22 19793231 19793231 single base substitution G A intron_variant SKCA-BR 22 19793390 19793390 single base substitution C T intron_variant SKCA-BR 22 19793594 19793594 single base substitution C T intron_variant SKCA-BR 22 19794180 19794180 single base substitution A C splice_donor_variant SKCA-BR 22 19795016 19795016 single base substitution G A downstream_gene_variant SKCA-BR 22 19795016 19795016 single base substitution G A intron_variant SKCA-BR 22 19795815 19795815 single base substitution G A downstream_gene_variant SKCA-BR 22 19795815 19795815 single base substitution G A intron_variant SKCA-BR 22 19799864 19799864 single base substitution G A exon_variant SKCA-BR 22 19799864 19799864 single base substitution G A synonymous_variant L121L 361C>T SKCA-BR 22 19799864 19799864 single base substitution G A synonymous_variant L79L 235C>T SKCA-BR 22 19800029 19800029 single base substitution G A intron_variant SKCA-BR 22 19800901 19800901 single base substitution G A intron_variant SKCA-BR 22 19802649 19802649 single base substitution C T intron_variant SKCA-BR 22 19805268 19805268 single base substitution C T intron_variant SKCA-BR 22 19806892 19806892 single base substitution G A intron_variant SKCA-BR 22 19807296 19807296 single base substitution G A intron_variant SKCA-BR 22 19808216 19808216 single base substitution G A intron_variant SKCA-BR 22 19808216 19808216 single base substitution G A synonymous_variant S53S 159C>T SKCA-BR 22 19809712 19809712 single base substitution C T intron_variant SKCA-BR 22 19810544 19810544 single base substitution A G intron_variant SKCA-BR 22 19812420 19812420 single base substitution T G intron_variant SKCA-BR 22 19812713 19812713 single base substitution G A intron_variant SKCA-BR 22 19813834 19813834 single base substitution A C intron_variant SKCA-BR 22 19814457 19814457 single base substitution G A intron_variant SKCA-BR 22 19814605 19814605 single base substitution G A intron_variant SKCA-BR 22 19814679 19814679 single base substitution G A intron_variant SKCA-BR 22 19818240 19818240 single base substitution A C intron_variant SKCA-BR 22 19821866 19821866 single base substitution G A intron_variant SKCA-BR 22 19827470 19827470 single base substitution C A intron_variant SKCA-BR 22 19827586 19827586 insertion of <=200bp - CA intron_variant SKCA-BR 22 19828716 19828716 single base substitution G A intron_variant SKCA-BR 22 19828975 19828975 single base substitution A C intron_variant SKCA-BR 22 19829151 19829151 single base substitution A C intron_variant SKCA-BR 22 19830172 19830172 single base substitution G A intron_variant SKCA-BR 22 19833208 19833208 single base substitution G A intron_variant SKCA-BR 22 19834383 19834383 single base substitution T A intron_variant SKCA-BR 22 19835022 19835022 single base substitution G A intron_variant SKCA-BR 22 19835327 19835334 deletion of <=200bp CAAAAAAA - intron_variant SKCA-BR 22 19836859 19836859 single base substitution T G intron_variant SKCA-BR 22 19836907 19836907 insertion of <=200bp - TG intron_variant SKCA-BR 22 19846319 19846319 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 22 19847155 19847155 single base substitution C T upstream_gene_variant SKCM-US 22 19770515 19770515 single base substitution C T downstream_gene_variant SKCM-US 22 19776423 19776423 single base substitution G A exon_variant SKCM-US 22 19776423 19776423 single base substitution G A intron_variant SKCM-US 22 19776423 19776423 single base substitution G A missense_variant R265C 793C>T SKCM-US 22 19776432 19776432 single base substitution G A exon_variant SKCM-US 22 19776432 19776432 single base substitution G A intron_variant SKCM-US 22 19776432 19776432 single base substitution G A missense_variant R262W 784C>T SKCM-US 22 19776448 19776448 single base substitution G A exon_variant SKCM-US 22 19776448 19776448 single base substitution G A intron_variant SKCM-US 22 19776448 19776448 single base substitution G A synonymous_variant I256I 768C>T SKCM-US 22 19789715 19789715 single base substitution G A exon_variant SKCM-US 22 19789715 19789715 single base substitution G A missense_variant L181F 541C>T SKCM-US 22 19799823 19799823 single base substitution C T exon_variant SKCM-US 22 19799823 19799823 single base substitution C T synonymous_variant G134G 402G>A SKCM-US 22 19799823 19799823 single base substitution C T synonymous_variant G92G 276G>A SKCM-US 22 19808195 19808195 single base substitution A T intron_variant SKCM-US 22 19808195 19808195 single base substitution A T synonymous_variant V60V 180T>A SKCM-US 22 19808831 19808831 single base substitution G A intron_variant SKCM-US 22 19808831 19808831 single base substitution G A synonymous_variant L16L 48C>T SKCM-US 22 19838874 19838874 single base substitution G A intron_variant SKCM-US 22 19838896 19838896 single base substitution G A intron_variant SKCM-US 22 19839242 19839242 single base substitution G A intron_variant SKCM-US 22 19839542 19839542 single base substitution G A intron_variant SKCM-US 22 19839544 19839544 single base substitution G A intron_variant SKCM-US 22 19839744 19839744 single base substitution G A intron_variant STAD-US 22 19766891 19766891 single base substitution C T downstream_gene_variant STAD-US 22 19776447 19776447 single base substitution C T exon_variant STAD-US 22 19776447 19776447 single base substitution C T intron_variant STAD-US 22 19776447 19776447 single base substitution C T missense_variant A257T 769G>A STAD-US 22 19789618 19789618 single base substitution T C exon_variant STAD-US 22 19789618 19789618 single base substitution T C missense_variant D213G 638A>G STAD-US 22 19789618 19789618 single base substitution T C splice_region_variant STAD-US 22 19808148 19808148 single base substitution G A intron_variant STAD-US 22 19808148 19808148 single base substitution G A missense_variant T76M 227C>T STAD-US 22 19808157 19808157 single base substitution C T intron_variant STAD-US 22 19808157 19808157 single base substitution C T stop_gained W73* 218G>A STAD-US 22 19808240 19808240 single base substitution C A intron_variant STAD-US 22 19808240 19808240 single base substitution C A missense_variant Q45H 135G>T STAD-US 22 19839076 19839076 single base substitution C T intron_variant STAD-US 22 19839620 19839620 single base substitution G A intron_variant STAD-US 22 19839687 19839687 single base substitution G A intron_variant THCA-SA 22 19766895 19766895 single base substitution G A downstream_gene_variant UCEC-US 22 19776238 19776238 single base substitution G A exon_variant UCEC-US 22 19776238 19776238 single base substitution G A intron_variant UCEC-US 22 19776238 19776238 single base substitution G A synonymous_variant R326R 978C>T UCEC-US 22 19776244 19776244 single base substitution G A exon_variant UCEC-US 22 19776244 19776244 single base substitution G A intron_variant UCEC-US 22 19776244 19776244 single base substitution G A synonymous_variant Y324Y 972C>T UCEC-US 22 19776405 19776405 single base substitution C T exon_variant UCEC-US 22 19776405 19776405 single base substitution C T intron_variant UCEC-US 22 19776405 19776405 single base substitution C T missense_variant A271T 811G>A UCEC-US 22 19789664 19789664 single base substitution G A exon_variant UCEC-US 22 19789664 19789664 single base substitution G A stop_gained Q198* 592C>T UCEC-US 22 19799903 19799903 single base substitution C T exon_variant UCEC-US 22 19799903 19799903 single base substitution C T missense_variant V108M 322G>A UCEC-US 22 19799903 19799903 single base substitution C T missense_variant V66M 196G>A UCEC-US 22 19838830 19838830 single base substitution G T intron_variant UCEC-US 22 19838958 19838958 single base substitution G T intron_variant UCEC-US 22 19839077 19839077 single base substitution G A intron_variant UCEC-US 22 19839194 19839194 single base substitution G T intron_variant UCEC-US 22 19839229 19839229 single base substitution C A intron_variant UCEC-US 22 19839605 19839605 single base substitution C T intron_variant UCEC-US 22 19839610 19839610 single base substitution G A intron_variant UCEC-US 22 19839751 19839751 single base substitution G A intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand RMS105_ COSM3759035 c.715T>G p.W239G Substitution - Missense 22:19802018-19802018 - TCGA-G2-A2EF-01 COSM1307953 c.468G>A p.P156P Substitution - coding silent 22:19806707-19806707 - TCGA-AA-3531-01 COSM291905 c.888C>A p.A296A Substitution - coding silent 22:19788805-19788805 - TCGA-85-6175-01 COSM725598 c.349C>T p.R117W Substitution - Missense 22:19812353-19812353 - TCGA-AP-A054-01 COSM1032141 c.322G>A p.V108M Substitution - Missense 22:19812380-19812380 - RK069_C01 COSM1632529 c.282G>T p.L94L Substitution - coding silent 22:19812420-19812420 - TCGA-E9-A1R4-01 COSM1484075 c.468G>C p.P156P Substitution - coding silent 22:19806707-19806707 - T578 COSM1414910 c.21G>A p.P7P Substitution - coding silent 22:19821335-19821335 - TCGA-06-0747 COSM2151848 c.353G>A p.S118N Substitution - Missense 22:19812349-19812349 - PD4006a COSM5778025 c.133C>G p.Q45E Substitution - Missense 22:19820719-19820719 - S02234 COSM1414910 c.21G>A p.P7P Substitution - coding silent 22:19821335-19821335 - SNUH_G76_S1 COSM3759036 c.110G>A p.R37H Substitution - Missense 22:19821246-19821246 - WA48 COSM237455 c.837G>C p.V279V Substitution - coding silent 22:19788856-19788856 - TCGA-KK-A6E4-01 COSM4876481 c.530C>A p.S177Y Substitution - Missense 22:19802203-19802203 - TCGA-EK-A2RK-01 COSM4829084 c.351G>C p.R117R Substitution - coding silent 22:19812351-19812351 - HX25T COSM1616237 c.254+9C>T p.? Unknown 22:19820589-19820589 - TCGA-AA-3663-01 COSM1414911 c.18G>A p.P6P Substitution - coding silent 22:19821338-19821338 - TCGA-D1-A103-01 COSM1032138 c.972C>T p.Y324Y Substitution - coding silent 22:19788721-19788721 - TCGA-A3-3367-01 COSM478730 c.980C>A p.A327E Substitution - Missense 22:19788713-19788713 - TCGA-CK-6747-01 COSM1414907 c.832C>T p.R278C Substitution - Missense 22:19788861-19788861 - 226 COSM4425868 c.810C>T p.T270T Substitution - coding silent 22:19788883-19788883 - TCGA-HU-A4GU-01 COSM4102612 c.638A>G p.D213G Substitution - Missense 22:19802095-19802095 - TCGA-A6-6140-01 COSM725599 c.379C>T p.R127C Substitution - Missense 22:19812323-19812323 - TCGA-EE-A3AB-06 COSM3552205 c.402G>A p.G134G Substitution - coding silent 22:19812300-19812300 - TCGA-CK-5913-01 COSM5154120 c.500G>A p.C167Y Substitution - Missense 22:19806675-19806675 - 46M COSM5587885 c.814G>A p.G272S Substitution - Missense 22:19788879-19788879 - TCGA-BF-A3DM-01 COSM3912390 c.793C>T p.R265C Substitution - Missense 22:19788900-19788900 - E15 COSM1666509 c.516+1_516+2insGT p.? Unknown 22:19806657-19806658 - T276 COSM4687431 c.566C>T p.S189L Substitution - Missense 22:19802167-19802167 - SCMC_RM2_ COSM3759035 c.715T>G p.W239G Substitution - Missense 22:19802018-19802018 - TCGA-CG-5726-01 COSM4102617 c.135G>T p.Q45H Substitution - Missense 22:19820717-19820717 - TCGA-WS-AB45-01 COSM5190969 c.307G>A p.A103T Substitution - Missense 22:19812395-19812395 - TCGA-ER-A19N-06 COSM3552209 c.48C>T p.L16L Substitution - coding silent 22:19821308-19821308 - TCGA-BR-8078-01 COSM4102611 c.769G>A p.A257T Substitution - Missense 22:19788924-19788924 - 585205 COSM320618 c.553T>C p.Y185H Substitution - Missense 22:19802180-19802180 - CSCC-27-T COSM4514275 c.96C>T p.A32A Substitution - coding silent 22:19821260-19821260 - TCGA-FS-A1ZZ-06 COSM3552202 c.768C>T p.I256I Substitution - coding silent 22:19788925-19788925 - TCGA-DM-A1HB-01 COSM5169099 c.295G>T p.E99* Substitution - Nonsense 22:19812407-19812407 - CHC2213T COSM4801156 c.88G>A p.E30K Substitution - Missense 22:19821268-19821268 - TCGA-DK-A3IT-01 COSM1307955 c.92G>C p.G31A Substitution - Missense 22:19821264-19821264 - cSCCP7 COSM143676 c.866_867CC>TT p.A289V Substitution - Missense 22:19788826-19788827 - T2944 COSM2892445 c.227C>T p.T76M Substitution - Missense 22:19820625-19820625 - TCGA-G4-6321-01 COSM3759035 c.715T>G p.W239G Substitution - Missense 22:19802018-19802018 - 61 COSM5366680 c.976C>T p.R326C Substitution - Missense 22:19788717-19788717 - TCGA-G2-A2EJ-01 COSM1307954 c.414C>T p.D138D Substitution - coding silent 22:19812288-19812288 - TCGA-AM-5820-01 COSM3759036 c.110G>A p.R37H Substitution - Missense 22:19821246-19821246 - ESCC_159 COSM1714147 c.848G>A p.R283Q Substitution - Missense 22:19788845-19788845 - TCGA-AX-A064-01 COSM1032140 c.592C>T p.Q198* Substitution - Nonsense 22:19802141-19802141 - HCC1954 COSM32955 c.886G>A p.A296T Substitution - Missense 22:19788807-19788807 - TCGA-AC-A23H-01 COSM3842191 c.468G>T p.P156P Substitution - coding silent 22:19806707-19806707 - AOCS-155-3-5 COSM4137322 c.859C>G p.P287A Substitution - Missense 22:19788834-19788834 - HCC23T COSM1616237 c.254+9C>T p.? Unknown 22:19820589-19820589 - TCGA-CD-A4MI-01 COSM2892445 c.227C>T p.T76M Substitution - Missense 22:19820625-19820625 - TCGA-66-2770-01 COSM725599 c.379C>T p.R127C Substitution - Missense 22:19812323-19812323 - TCGA-A6-3809-01 COSM5087115 c.737G>A p.R246H Substitution - Missense 22:19788956-19788956 - ccRCC-38 COSM1662011 c.50G>A p.R17Q Substitution - Missense 22:19821306-19821306 - TCGA-EI-7002-01 COSM3424038 c.550G>A p.G184S Substitution - Missense 22:19802183-19802183 - HCC083T COSM5816409 c.517G>T p.A173S Substitution - Missense 22:19802216-19802216 - TCGA-UB-A7MB-01 COSM4931311 c.236A>T p.Q79L Substitution - Missense 22:19820616-19820616 - J15_T COSM3964095 c.190G>C p.D64H Substitution - Missense 22:19820662-19820662 - LP6007533-DNA_A01 COSM2892430 c.920G>A p.G307D Substitution - Missense 22:19788773-19788773 - TCGA-DM-A282-01 COSM1414910 c.21G>A p.P7P Substitution - coding silent 22:19821335-19821335 - TCGA-CG-5728-01 COSM2892445 c.227C>T p.T76M Substitution - Missense 22:19820625-19820625 - PTC-7C COSM4135152 c.222G>C p.L74L Substitution - coding silent 22:19820630-19820630 - T3262 COSM4687430 c.740G>A p.G247E Substitution - Missense 22:19788953-19788953 - TCGA-B5-A11Y-01 COSM1032139 c.811G>A p.A271T Substitution - Missense 22:19788882-19788882 - CHC892T COSM4797895 c.335G>A p.S112N Substitution - Missense 22:19812367-19812367 - TCGA-BS-A0UF-01 COSM1032137 c.978C>T p.R326R Substitution - coding silent 22:19788715-19788715 - TCGA-EE-A3AG-06 COSM3552203 c.541C>T p.L181F Substitution - Missense 22:19802192-19802192 - TCGA-EE-A3J5-06 COSM3552201 c.784C>T p.R262W Substitution - Missense 22:19788909-19788909 - MOLT-4 COSM1682103 c.980C>T p.A327V Substitution - Missense 22:19788713-19788713 - T2940 COSM4687433 c.200G>A p.G67D Substitution - Missense 22:19820652-19820652 - TCGA-AC-A23H-01 COSM3842193 c.62C>T p.S21L Substitution - Missense 22:19821294-19821294 - WA13 COSM239990 c.430G>C p.E144Q Substitution - Missense 22:19806745-19806745 - TCGA-26-1439-01 COSM3748164 c.505C>G p.R169G Substitution - Missense 22:19806670-19806670 - TCGA-06-0747-01 COSM2151848 c.353G>A p.S118N Substitution - Missense 22:19812349-19812349 - C135 COSM4618158 c.583G>A p.V195I Substitution - Missense 22:19802150-19802150 - ORL-48 COSM4596993 c.733G>A p.V245M Substitution - Missense 22:19788960-19788960 - ESO-175 COSM1253363 c.202G>T p.G68C Substitution - Missense 22:19820650-19820650 - PD13763a COSM5773529 c.367G>A p.G123R Substitution - Missense 22:19812335-19812335 - T3021 COSM4687435 c.177G>A p.A59A Substitution - coding silent 22:19820675-19820675 - sysucc-880T COSM5463079 c.533G>A p.R178H Substitution - Missense 22:19802200-19802200 - TCGA-NH-A5IV-01 COSM5183633 c.794G>A p.R265H Substitution - Missense 22:19788899-19788899 - 8035633 COSM1414909 c.74C>T p.A25V Substitution - Missense 22:19821282-19821282 - pfg212T COSM3424038 c.550G>A p.G184S Substitution - Missense 22:19802183-19802183 - TCGA-A6-6781-01 COSM1414908 c.104_105insA p.R37fs*150 Insertion - Frameshift 22:19821251-19821252 - RMS106_ COSM3759035 c.715T>G p.W239G Substitution - Missense 22:19802018-19802018 - TCGA-G4-6309-01 COSM5176414 c.682G>A p.A228T Substitution - Missense 22:19802051-19802051 - TCGA-D3-A3C1-06 COSM3552207 c.180T>A p.V60V Substitution - coding silent 22:19820672-19820672 - Pat_66_A COSM5858916 c.421C>T p.Q141* Substitution - Nonsense 22:19806754-19806754 - MedB-1 COSM5620900 c.901G>A p.V301M Substitution - Missense 22:19788792-19788792 - TCGA-AA-3833-01 COSM271276 c.532C>T p.R178C Substitution - Missense 22:19802201-19802201 - TCGA-CM-4752-01 COSM5157235 c.129-9C>T p.? Unknown 22:19820732-19820732 - TCGA-CK-4950-01 COSM3693938 c.834C>T p.R278R Substitution - coding silent 22:19788859-19788859 - 388 COSM3721941 c.684G>A p.A228A Substitution - coding silent 22:19802049-19802049 - LUAD-LC15C COSM341879 c.587C>T p.S196F Substitution - Missense 22:19802146-19802146 - 8053117 COSM3785610 c.394G>T p.V132L Substitution - Missense 22:19812308-19812308 - CSCC-10-T COSM4562788 c.943G>A p.D315N Substitution - Missense 22:19788750-19788750 - sysucc-834T COSM5486220 c.387G>A p.T129T Substitution - coding silent 22:19812315-19812315 - I2L-P7-Tumor-Organoid COSM5366680 c.976C>T p.R326C Substitution - Missense 22:19788717-19788717 - TCGA-EJ-5504-01 COSM1130505 c.236A>C p.Q79P Substitution - Missense 22:19820616-19820616 - KM12 COSM2892441 c.361C>T p.L121L Substitution - coding silent 22:19812341-19812341 - CHC2213T COSM4801156 c.88G>A p.E30K Substitution - Missense 22:19821268-19821268 - Pat_16_B COSM5858915 c.931G>A p.A311T Substitution - Missense 22:19788762-19788762 - CHC892T COSM4797895 c.335G>A p.S112N Substitution - Missense 22:19812367-19812367 - KM12 COSM4639106 c.460C>A p.L154M Substitution - Missense 22:19806715-19806715 - TCGA-HU-A4GC-01 COSM4102615 c.218G>A p.W73* Substitution - Nonsense 22:19820634-19820634 - TCGA-G4-6321-01 COSM1414909 c.74C>T p.A25V Substitution - Missense 22:19821282-19821282 - RD COSM3759035 c.715T>G p.W239G Substitution - Missense 22:19802018-19802018 - YUGOE COSM1714147 c.848G>A p.R283Q Substitution - Missense 22:19788845-19788845 - RMS80_ COSM3759035 c.715T>G p.W239G Substitution - Missense 22:19802018-19802018 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.105642 22q11.2 610778 2461902|CGAP|BC012060|A/G|non-coding||1182|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.Y185H c.553T>C 22 19789703 SCLC A T IntronicSNV . c.733-3653T>A 22 19780136 CM A T Missense p.I256N c.767T>A 22 19776449 STAD A T Synonymous p.V60V c.180T>A 22 19808195 CM C A Missense p.A103S c.307G>T 22 19799918 LUAD C A Missense p.G68C c.202G>T 22 19808173 ESCA C A Missense p.Q45H c.135G>T 22 19808240 STAD C A Synonymous p.L94L c.282G>T 22 19799943 HC C G Missense p.G31A c.92G>C 22 19808787 BLCA C G Synonymous p.P156P c.468G>C 22 19794230 BRCA C T 3-UTRSNV . c.981+40G>A 22 19776195 CM C T Missense p.A271T c.811G>A 22 19776405 UCEC C T Missense p.G184S c.550G>A 22 19789706 HNSC C T Missense p.S118N c.353G>A 22 19799872 GBM C T Missense p.V108M c.322G>A 22 19799903 UCEC C T Synonymous p.G134G c.402G>A 22 19799823 CM C T Synonymous p.P156P c.468G>A 22 19794230 BLCA G A IntronicSNV . c.733-3648C>T 22 19780131 CM G A IntronicSNV . c.733-3711C>T 22 19780194 CM G A Missense p.A296T c.886G>A 22 19776330 BRCA G A Missense p.L181F c.541C>T 22 19789715 CM G A Missense p.R117W c.349C>T 22 19799876 LUSC G A Missense p.R127C c.379C>T 22 19799846 LUSC G A Missense p.R262W c.784C>T 22 19776432 CM G A Missense p.R265C c.793C>T 22 19776423 CM G A Missense p.T76M c.227C>T 22 19808148 STAD G A Nonsense p.Q198* c.592C>T 22 19789664 UCEC G A Nonsense p.Q45* c.133C>T 22 19808242 HNSC G A Synonymous p.D138D c.414C>T 22 19799811 BLCA G A Synonymous p.I256I c.768C>T 22 19776448 CM G A Synonymous p.L16L c.48C>T 22 19808831 CM G A Synonymous p.L180L c.540C>T 22 19789716 CM G C Missense p.R169G c.505C>G 22 19794193 GBM G T Missense p.A327E c.980C>A 22 19776236 RCCC G T Missense p.S177Y c.530C>A 22 19789726 PRAD G T Synonymous p.A296A c.888C>A 22 19776328 COREAD T G Missense p.Q79P c.236A>C 22 19808139 PRAD