Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 2 238903410 238903410 + Missense_Mutation SNP A A C TCGA-G2-AA3F-01A-12D-A42E-08 TCGA-G2-AA3F-10A-01D-A42H-08 g.chr2:238903410A>C c.173A>C c.(172-174)gAt>gCt p.D58A BRCA 2 238933990 238933990 + Missense_Mutation SNP A A C TCGA-A7-A26G-01A-21D-A167-09 TCGA-A7-A26G-10A-01D-A167-09 g.chr2:238933990A>C c.290A>C c.(289-291)aAa>aCa p.K97T CHOL 2 238934042 238934042 + Silent SNP A A G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr2:238934042A>G c.342A>G c.(340-342)gaA>gaG p.E114E COAD 2 238881802 238881802 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr2:238881802G>A c.53G>A c.(52-54)cGg>cAg p.R18Q COAD 2 238896619 238896619 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr2:238896619G>A c.133G>A c.(133-135)Gaa>Aaa p.E45K COADREAD 2 238881802 238881802 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr2:238881802G>A c.53G>A c.(52-54)cGg>cAg p.R18Q COADREAD 2 238896619 238896619 + Missense_Mutation SNP G G A TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr2:238896619G>A c.133G>A c.(133-135)Gaa>Aaa p.E45K ESCA 2 238949975 238949975 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr2:238949975G>C c.554G>C c.(553-555)aGa>aCa p.R185T GBMLGG 2 238925257 238925257 + Silent SNP C C T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 g.chr2:238925257C>T c.264C>T c.(262-264)ccC>ccT p.P88P LGG 2 238925257 238925257 + Silent SNP C C T TCGA-TM-A84J-01A-11D-A36O-08 TCGA-TM-A84J-10A-01D-A367-08 g.chr2:238925257C>T c.264C>T c.(262-264)ccC>ccT p.P88P LIHC 2 238925260 238925260 + Silent SNP T T C TCGA-DD-AACP-01A-11D-A40R-10 TCGA-DD-AACP-10A-01D-A40U-10 g.chr2:238925260T>C c.267T>C c.(265-267)gaT>gaC p.D89D PAAD 2 238940869 238940869 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 g.chr2:238940869G>A c.418G>A c.(418-420)Gtt>Att p.V140I PRAD 2 238940869 238940869 + Missense_Mutation SNP G G A TCGA-V1-A9O9-01A-11D-A41K-08 TCGA-V1-A9O9-10A-01D-A41N-08 g.chr2:238940869G>A c.418G>A c.(418-420)Gtt>Att p.V140I SKCM 2 238881789 238881789 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr2:238881789C>T c.40C>T c.(40-42)Ctc>Ttc p.L14F SKCM 2 238881822 238881822 + Missense_Mutation SNP G G A TCGA-EE-A29Q-06A-11D-A197-08 TCGA-EE-A29Q-10A-01D-A199-08 g.chr2:238881822G>A c.73G>A c.(73-75)Gac>Aac p.D25N SKCM 2 238939237 238939237 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr2:238939237C>T c.394C>T c.(394-396)Ccc>Tcc p.P132S SKCM 2 238940897 238940897 + Splice_Site SNP T T C TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 g.chr2:238940897T>C c.e8+2 SKCM 2 238944540 238944540 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:238944540C>T c.466C>T c.(466-468)Cca>Tca p.P156S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 2 238871347 238871347 single base substitution C T upstream_gene_variant BRCA-EU 2 238871616 238871616 single base substitution G T upstream_gene_variant BRCA-EU 2 238873231 238873231 single base substitution C A upstream_gene_variant BRCA-EU 2 238873996 238873996 single base substitution G C upstream_gene_variant BRCA-EU 2 238874664 238874664 single base substitution C T upstream_gene_variant BRCA-EU 2 238876383 238876383 single base substitution A G intron_variant BRCA-EU 2 238876383 238876383 single base substitution A G upstream_gene_variant BRCA-EU 2 238876758 238876758 single base substitution G T intron_variant BRCA-EU 2 238876758 238876758 single base substitution G T upstream_gene_variant BRCA-EU 2 238877105 238877105 single base substitution C T intron_variant BRCA-EU 2 238877105 238877105 single base substitution C T upstream_gene_variant BRCA-EU 2 238877185 238877185 single base substitution T G intron_variant BRCA-EU 2 238877185 238877185 single base substitution T G upstream_gene_variant BRCA-EU 2 238877550 238877551 deletion of <=200bp AG - intron_variant BRCA-EU 2 238877550 238877551 deletion of <=200bp AG - splice_region_variant BRCA-EU 2 238877550 238877551 deletion of <=200bp AG - upstream_gene_variant BRCA-EU 2 238878089 238878089 single base substitution A G intron_variant BRCA-EU 2 238878089 238878089 single base substitution A G upstream_gene_variant BRCA-EU 2 238878844 238878844 deletion of <=200bp A - intron_variant BRCA-EU 2 238878844 238878844 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 238879527 238879527 single base substitution G A intron_variant BRCA-EU 2 238879527 238879527 single base substitution G A upstream_gene_variant BRCA-EU 2 238879938 238879938 single base substitution G C intron_variant BRCA-EU 2 238879938 238879938 single base substitution G C upstream_gene_variant BRCA-EU 2 238880291 238880291 single base substitution A T intron_variant BRCA-EU 2 238880291 238880291 single base substitution A T upstream_gene_variant BRCA-EU 2 238880512 238880512 single base substitution C T intron_variant BRCA-EU 2 238880512 238880512 single base substitution C T upstream_gene_variant BRCA-EU 2 238880917 238880917 single base substitution C G intron_variant BRCA-EU 2 238880917 238880917 single base substitution C G upstream_gene_variant BRCA-EU 2 238881348 238881348 single base substitution A G intron_variant BRCA-EU 2 238881348 238881348 single base substitution A G upstream_gene_variant BRCA-EU 2 238881447 238881447 single base substitution G C intron_variant BRCA-EU 2 238881447 238881447 single base substitution G C upstream_gene_variant BRCA-EU 2 238881461 238881461 single base substitution C G intron_variant BRCA-EU 2 238881461 238881461 single base substitution C G upstream_gene_variant BRCA-EU 2 238881970 238881970 single base substitution C G intron_variant BRCA-EU 2 238882151 238882151 single base substitution G C intron_variant BRCA-EU 2 238882796 238882796 single base substitution C T intron_variant BRCA-EU 2 238885836 238885836 single base substitution C G intron_variant BRCA-EU 2 238887388 238887388 single base substitution G T intron_variant BRCA-EU 2 238888414 238888414 single base substitution C G intron_variant BRCA-EU 2 238891419 238891419 single base substitution C T intron_variant BRCA-EU 2 238893111 238893111 single base substitution G T intron_variant BRCA-EU 2 238894429 238894429 single base substitution A T intron_variant BRCA-EU 2 238897172 238897172 single base substitution C G intron_variant BRCA-EU 2 238899402 238899402 single base substitution C A intron_variant BRCA-EU 2 238899402 238899402 single base substitution C T intron_variant BRCA-EU 2 238901650 238901650 single base substitution G T intron_variant BRCA-EU 2 238902605 238902605 single base substitution G C intron_variant BRCA-EU 2 238902869 238902869 single base substitution C G intron_variant BRCA-EU 2 238908700 238908700 single base substitution G A intron_variant BRCA-EU 2 238909085 238909085 single base substitution C G intron_variant BRCA-EU 2 238911317 238911317 single base substitution G A intron_variant BRCA-EU 2 238913060 238913060 single base substitution C G intron_variant BRCA-EU 2 238915507 238915507 single base substitution C G intron_variant BRCA-EU 2 238916481 238916481 deletion of <=200bp T - intron_variant BRCA-EU 2 238919056 238919056 single base substitution G A intron_variant BRCA-EU 2 238920410 238920410 single base substitution C G intron_variant BRCA-EU 2 238923547 238923547 single base substitution C T intron_variant BRCA-EU 2 238924186 238924186 single base substitution A G intron_variant BRCA-EU 2 238925471 238925471 single base substitution C A downstream_gene_variant BRCA-EU 2 238925471 238925471 single base substitution C A intron_variant BRCA-EU 2 238925891 238925891 single base substitution G A downstream_gene_variant BRCA-EU 2 238925891 238925891 single base substitution G A intron_variant BRCA-EU 2 238925996 238925996 single base substitution A T downstream_gene_variant BRCA-EU 2 238925996 238925996 single base substitution A T intron_variant BRCA-EU 2 238927126 238927126 single base substitution G C downstream_gene_variant BRCA-EU 2 238927126 238927126 single base substitution G C intron_variant BRCA-EU 2 238927991 238927991 single base substitution C G downstream_gene_variant BRCA-EU 2 238927991 238927991 single base substitution C G intron_variant BRCA-EU 2 238929293 238929293 single base substitution C T downstream_gene_variant BRCA-EU 2 238929293 238929293 single base substitution C T intron_variant BRCA-EU 2 238929293 238929293 single base substitution C T upstream_gene_variant BRCA-EU 2 238929554 238929554 single base substitution G C downstream_gene_variant BRCA-EU 2 238929554 238929554 single base substitution G C intron_variant BRCA-EU 2 238929554 238929554 single base substitution G C upstream_gene_variant BRCA-EU 2 238930734 238930736 deletion of <=200bp TTG - intron_variant BRCA-EU 2 238930734 238930736 deletion of <=200bp TTG - upstream_gene_variant BRCA-EU 2 238932139 238932139 deletion of <=200bp A - intron_variant BRCA-EU 2 238932139 238932139 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 238932194 238932194 single base substitution G A intron_variant BRCA-EU 2 238932194 238932194 single base substitution G A upstream_gene_variant BRCA-EU 2 238933311 238933311 single base substitution C T intron_variant BRCA-EU 2 238933311 238933311 single base substitution C T upstream_gene_variant BRCA-EU 2 238933710 238933710 single base substitution G A intron_variant BRCA-EU 2 238933710 238933710 single base substitution G A upstream_gene_variant BRCA-EU 2 238935499 238935499 single base substitution A G intron_variant BRCA-EU 2 238937322 238937322 deletion of <=200bp T - intron_variant BRCA-EU 2 238938872 238938872 single base substitution G A intron_variant BRCA-EU 2 238938872 238938872 single base substitution G A upstream_gene_variant BRCA-EU 2 238939649 238939649 single base substitution G A downstream_gene_variant BRCA-EU 2 238939649 238939649 single base substitution G A intron_variant BRCA-EU 2 238939649 238939649 single base substitution G A upstream_gene_variant BRCA-EU 2 238940131 238940131 single base substitution G A downstream_gene_variant BRCA-EU 2 238940131 238940131 single base substitution G A intron_variant BRCA-EU 2 238940131 238940131 single base substitution G A upstream_gene_variant BRCA-EU 2 238941943 238941943 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 238941943 238941943 deletion of <=200bp T - intron_variant BRCA-EU 2 238941943 238941943 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 238943081 238943081 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 238943081 238943081 deletion of <=200bp T - intron_variant BRCA-EU 2 238943081 238943081 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 238943081 238943081 single base substitution T A downstream_gene_variant BRCA-EU 2 238943081 238943081 single base substitution T A intron_variant BRCA-EU 2 238943081 238943081 single base substitution T A upstream_gene_variant BRCA-EU 2 238946187 238946187 single base substitution G C downstream_gene_variant BRCA-EU 2 238946187 238946187 single base substitution G C intron_variant BRCA-EU 2 238946439 238946439 single base substitution G T downstream_gene_variant BRCA-EU 2 238946439 238946439 single base substitution G T intron_variant BRCA-EU 2 238947118 238947118 single base substitution A T downstream_gene_variant BRCA-EU 2 238947118 238947118 single base substitution A T intron_variant BRCA-EU 2 238948659 238948659 single base substitution A T downstream_gene_variant BRCA-EU 2 238948659 238948659 single base substitution A T intron_variant BRCA-EU 2 238950056 238950056 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 238950056 238950056 single base substitution C G downstream_gene_variant BRCA-EU 2 238950056 238950056 single base substitution C G exon_variant BRCA-EU 2 238952049 238952050 deletion of <=200bp CA - downstream_gene_variant BRCA-EU 2 238953754 238953754 single base substitution G A downstream_gene_variant BRCA-FR 2 238879938 238879938 single base substitution G C intron_variant BRCA-FR 2 238879938 238879938 single base substitution G C upstream_gene_variant BRCA-FR 2 238881447 238881447 single base substitution G C intron_variant BRCA-FR 2 238881447 238881447 single base substitution G C upstream_gene_variant BRCA-FR 2 238899402 238899402 single base substitution C T intron_variant BRCA-FR 2 238901650 238901650 single base substitution G T intron_variant BRCA-FR 2 238902869 238902869 single base substitution C G intron_variant BRCA-FR 2 238925891 238925891 single base substitution G A downstream_gene_variant BRCA-FR 2 238925891 238925891 single base substitution G A intron_variant BRCA-FR 2 238933311 238933311 single base substitution C T intron_variant BRCA-FR 2 238933311 238933311 single base substitution C T upstream_gene_variant BRCA-FR 2 238935365 238935365 single base substitution C T intron_variant BRCA-FR 2 238939649 238939649 single base substitution G A downstream_gene_variant BRCA-FR 2 238939649 238939649 single base substitution G A intron_variant BRCA-FR 2 238939649 238939649 single base substitution G A upstream_gene_variant BRCA-US 2 238933990 238933990 single base substitution A C 3_prime_UTR_variant BRCA-US 2 238933990 238933990 single base substitution A C exon_variant BRCA-US 2 238933990 238933990 single base substitution A C intron_variant BRCA-US 2 238933990 238933990 single base substitution A C missense_variant K108T 323A>C BRCA-US 2 238933990 238933990 single base substitution A C missense_variant K65T 194A>C BRCA-US 2 238933990 238933990 single base substitution A C missense_variant K73T 218A>C BRCA-US 2 238933990 238933990 single base substitution A C missense_variant K75T 224A>C BRCA-US 2 238933990 238933990 single base substitution A C missense_variant K87T 260A>C BRCA-US 2 238933990 238933990 single base substitution A C missense_variant K97T 290A>C BTCA-JP 2 238882190 238882190 single base substitution A G intron_variant BTCA-JP 2 238933952 238933952 single base substitution C T exon_variant BTCA-JP 2 238933952 238933952 single base substitution C T intron_variant BTCA-JP 2 238933952 238933952 single base substitution C T upstream_gene_variant CLLE-ES 2 238943985 238943985 single base substitution C G downstream_gene_variant CLLE-ES 2 238943985 238943985 single base substitution C G exon_variant CLLE-ES 2 238943985 238943985 single base substitution C G intron_variant COAD-US 2 238881802 238881802 single base substitution G A exon_variant COAD-US 2 238881802 238881802 single base substitution G A intron_variant COAD-US 2 238881802 238881802 single base substitution G A missense_variant R18Q 53G>A COAD-US 2 238903399 238903399 single base substitution G A 3_prime_UTR_variant COAD-US 2 238903399 238903399 single base substitution G A exon_variant COAD-US 2 238903399 238903399 single base substitution G A intron_variant COAD-US 2 238903399 238903399 single base substitution G A synonymous_variant V30V 90G>A COAD-US 2 238903399 238903399 single base substitution G A synonymous_variant V44V 132G>A COAD-US 2 238903399 238903399 single base substitution G A synonymous_variant V54V 162G>A COCA-CN 2 238882262 238882262 single base substitution C A intron_variant COCA-CN 2 238898978 238898978 single base substitution C A intron_variant COCA-CN 2 238903576 238903576 single base substitution C T intron_variant COCA-CN 2 238912013 238912013 single base substitution T G 3_prime_UTR_variant COCA-CN 2 238912013 238912013 single base substitution T G exon_variant COCA-CN 2 238912013 238912013 single base substitution T G intron_variant COCA-CN 2 238934076 238934076 single base substitution C A intron_variant COCA-CN 2 238944667 238944667 single base substitution T G downstream_gene_variant COCA-CN 2 238944667 238944667 single base substitution T G intron_variant EOPC-DE 2 238916718 238916718 single base substitution C T intron_variant EOPC-DE 2 238918352 238918352 single base substitution C G intron_variant ESAD-UK 2 238873690 238873690 single base substitution C A upstream_gene_variant ESAD-UK 2 238875452 238875452 single base substitution A T upstream_gene_variant ESAD-UK 2 238875625 238875625 single base substitution C A 5_prime_UTR_variant ESAD-UK 2 238875625 238875625 single base substitution C A upstream_gene_variant ESAD-UK 2 238880222 238880222 single base substitution C T intron_variant ESAD-UK 2 238880222 238880222 single base substitution C T upstream_gene_variant ESAD-UK 2 238880855 238880855 single base substitution C T intron_variant ESAD-UK 2 238880855 238880855 single base substitution C T upstream_gene_variant ESAD-UK 2 238881778 238881778 single base substitution G A exon_variant ESAD-UK 2 238881778 238881778 single base substitution G A intron_variant ESAD-UK 2 238881778 238881778 single base substitution G A missense_variant R10H 29G>A ESAD-UK 2 238885231 238885231 single base substitution C A intron_variant ESAD-UK 2 238887081 238887081 single base substitution T C intron_variant ESAD-UK 2 238891191 238891191 single base substitution A G intron_variant ESAD-UK 2 238893544 238893544 single base substitution C A intron_variant ESAD-UK 2 238893581 238893581 single base substitution C T intron_variant ESAD-UK 2 238894703 238894703 single base substitution A T intron_variant ESAD-UK 2 238899410 238899410 single base substitution A T intron_variant ESAD-UK 2 238900804 238900804 single base substitution G A intron_variant ESAD-UK 2 238901591 238901591 single base substitution A G intron_variant ESAD-UK 2 238903767 238903767 single base substitution G A intron_variant ESAD-UK 2 238903959 238903959 single base substitution C T intron_variant ESAD-UK 2 238905875 238905875 single base substitution A T intron_variant ESAD-UK 2 238906099 238906099 single base substitution C T intron_variant ESAD-UK 2 238906129 238906129 single base substitution A T intron_variant ESAD-UK 2 238907445 238907445 single base substitution A C intron_variant ESAD-UK 2 238909292 238909293 deletion of <=200bp TA - intron_variant ESAD-UK 2 238916277 238916277 single base substitution G A intron_variant ESAD-UK 2 238916894 238916894 single base substitution C T intron_variant ESAD-UK 2 238917075 238917075 single base substitution C T intron_variant ESAD-UK 2 238917666 238917666 single base substitution C G intron_variant ESAD-UK 2 238921276 238921276 single base substitution A G intron_variant ESAD-UK 2 238924365 238924365 single base substitution T C intron_variant ESAD-UK 2 238924825 238924825 single base substitution G A intron_variant ESAD-UK 2 238927780 238927780 single base substitution A G downstream_gene_variant ESAD-UK 2 238927780 238927780 single base substitution A G intron_variant ESAD-UK 2 238932116 238932116 single base substitution A C intron_variant ESAD-UK 2 238932116 238932116 single base substitution A C upstream_gene_variant ESAD-UK 2 238935396 238935396 single base substitution A C intron_variant ESAD-UK 2 238936442 238936442 single base substitution T A intron_variant ESAD-UK 2 238937615 238937615 single base substitution A T intron_variant ESAD-UK 2 238940534 238940534 single base substitution A C downstream_gene_variant ESAD-UK 2 238940534 238940534 single base substitution A C intron_variant ESAD-UK 2 238940534 238940534 single base substitution A C upstream_gene_variant ESAD-UK 2 238940582 238940582 single base substitution G A downstream_gene_variant ESAD-UK 2 238940582 238940582 single base substitution G A intron_variant ESAD-UK 2 238940582 238940582 single base substitution G A upstream_gene_variant ESAD-UK 2 238941328 238941328 single base substitution G A downstream_gene_variant ESAD-UK 2 238941328 238941328 single base substitution G A intron_variant ESAD-UK 2 238941328 238941328 single base substitution G A upstream_gene_variant ESAD-UK 2 238941465 238941465 deletion of <=200bp T - downstream_gene_variant ESAD-UK 2 238941465 238941465 deletion of <=200bp T - intron_variant ESAD-UK 2 238941465 238941465 deletion of <=200bp T - upstream_gene_variant ESAD-UK 2 238942434 238942434 single base substitution T G downstream_gene_variant ESAD-UK 2 238942434 238942434 single base substitution T G intron_variant ESAD-UK 2 238942434 238942434 single base substitution T G upstream_gene_variant ESAD-UK 2 238943080 238943081 deletion of <=200bp AT - downstream_gene_variant ESAD-UK 2 238943080 238943081 deletion of <=200bp AT - intron_variant ESAD-UK 2 238943080 238943081 deletion of <=200bp AT - upstream_gene_variant ESAD-UK 2 238944816 238944816 single base substitution G A downstream_gene_variant ESAD-UK 2 238944816 238944816 single base substitution G A intron_variant ESAD-UK 2 238945262 238945262 single base substitution G A downstream_gene_variant ESAD-UK 2 238945262 238945262 single base substitution G A intron_variant ESAD-UK 2 238945468 238945468 single base substitution T G downstream_gene_variant ESAD-UK 2 238945468 238945468 single base substitution T G intron_variant ESAD-UK 2 238945555 238945555 single base substitution C A downstream_gene_variant ESAD-UK 2 238945555 238945555 single base substitution C A intron_variant ESAD-UK 2 238953226 238953226 single base substitution C T downstream_gene_variant ESAD-UK 2 238953427 238953427 deletion of <=200bp T - downstream_gene_variant ESCA-CN 2 238896494 238896494 single base substitution C T intron_variant LICA-CN 2 238881804 238881804 single base substitution A G exon_variant LICA-CN 2 238881804 238881804 single base substitution A G intron_variant LICA-CN 2 238881804 238881804 single base substitution A G missense_variant T19A 55A>G LICA-CN 2 238881820 238881820 single base substitution C G exon_variant LICA-CN 2 238881820 238881820 single base substitution C G intron_variant LICA-CN 2 238881820 238881820 single base substitution C G missense_variant S24C 71C>G LICA-CN 2 238940877 238940877 single base substitution A T 3_prime_UTR_variant LICA-CN 2 238940877 238940877 single base substitution A T downstream_gene_variant LICA-CN 2 238940877 238940877 single base substitution A T exon_variant LICA-CN 2 238940877 238940877 single base substitution A T intron_variant LICA-CN 2 238940877 238940877 single base substitution A T synonymous_variant G110G 330A>T LICA-CN 2 238940877 238940877 single base substitution A T synonymous_variant G118G 354A>T LICA-CN 2 238940877 238940877 single base substitution A T synonymous_variant G120G 360A>T LICA-CN 2 238940877 238940877 single base substitution A T synonymous_variant G132G 396A>T LICA-CN 2 238940877 238940877 single base substitution A T synonymous_variant G142G 426A>T LICA-CN 2 238940877 238940877 single base substitution A T upstream_gene_variant LICA-FR 2 238893639 238893640 deletion of <=200bp AA - intron_variant LICA-FR 2 238896495 238896495 insertion of <=200bp - ATT intron_variant LICA-FR 2 238897707 238897707 single base substitution G T intron_variant LICA-FR 2 238917211 238917211 single base substitution T G intron_variant LICA-FR 2 238930801 238930801 insertion of <=200bp - TCTTG intron_variant LICA-FR 2 238930801 238930801 insertion of <=200bp - TCTTG upstream_gene_variant LICA-FR 2 238938382 238938382 single base substitution C T intron_variant LINC-JP 2 238876792 238876792 single base substitution G A intron_variant LINC-JP 2 238876792 238876792 single base substitution G A upstream_gene_variant LINC-JP 2 238879170 238879170 single base substitution A G intron_variant LINC-JP 2 238879170 238879170 single base substitution A G upstream_gene_variant LINC-JP 2 238905796 238905796 single base substitution G A intron_variant LINC-JP 2 238912169 238912169 single base substitution A G intron_variant LINC-JP 2 238912169 238912169 single base substitution A G splice_region_variant LINC-JP 2 238914166 238914166 single base substitution G C intron_variant LINC-JP 2 238915014 238915014 single base substitution A G intron_variant LINC-JP 2 238919636 238919636 single base substitution C A intron_variant LINC-JP 2 238937927 238937927 single base substitution T A intron_variant LINC-JP 2 238937928 238937928 single base substitution A T intron_variant LINC-JP 2 238944611 238944611 single base substitution G T downstream_gene_variant LINC-JP 2 238944611 238944611 single base substitution G T intron_variant LIRI-JP 2 238873168 238873168 single base substitution A G upstream_gene_variant LIRI-JP 2 238873990 238873990 single base substitution T A upstream_gene_variant LIRI-JP 2 238877617 238877617 single base substitution A G intron_variant LIRI-JP 2 238877617 238877617 single base substitution A G upstream_gene_variant LIRI-JP 2 238877958 238877958 single base substitution A C intron_variant LIRI-JP 2 238877958 238877958 single base substitution A C upstream_gene_variant LIRI-JP 2 238879937 238879937 single base substitution G A intron_variant LIRI-JP 2 238879937 238879937 single base substitution G A upstream_gene_variant LIRI-JP 2 238885510 238885510 single base substitution T C intron_variant LIRI-JP 2 238889721 238889721 single base substitution G A intron_variant LIRI-JP 2 238891179 238891179 single base substitution T C intron_variant LIRI-JP 2 238895259 238895259 single base substitution T G intron_variant LIRI-JP 2 238895339 238895339 single base substitution T C intron_variant LIRI-JP 2 238896431 238896431 single base substitution T C intron_variant LIRI-JP 2 238897508 238897508 single base substitution T A intron_variant LIRI-JP 2 238902030 238902030 single base substitution A G intron_variant LIRI-JP 2 238906450 238906450 single base substitution A G intron_variant LIRI-JP 2 238906461 238906461 single base substitution A C intron_variant LIRI-JP 2 238906484 238906484 single base substitution A C intron_variant LIRI-JP 2 238908403 238908403 single base substitution C A intron_variant LIRI-JP 2 238908530 238908530 single base substitution G T intron_variant LIRI-JP 2 238910456 238910456 single base substitution C T intron_variant LIRI-JP 2 238911064 238911064 single base substitution A G intron_variant LIRI-JP 2 238911118 238911118 single base substitution A G intron_variant LIRI-JP 2 238911293 238911293 single base substitution A G intron_variant LIRI-JP 2 238911649 238911649 single base substitution C A intron_variant LIRI-JP 2 238912509 238912509 single base substitution G T intron_variant LIRI-JP 2 238913737 238913737 single base substitution A G intron_variant LIRI-JP 2 238913750 238913750 single base substitution G A intron_variant LIRI-JP 2 238914869 238914869 single base substitution C G intron_variant LIRI-JP 2 238916617 238916617 single base substitution A G intron_variant LIRI-JP 2 238916694 238916694 single base substitution C T intron_variant LIRI-JP 2 238917100 238917100 single base substitution A G intron_variant LIRI-JP 2 238917503 238917503 single base substitution T C intron_variant LIRI-JP 2 238918864 238918864 single base substitution G T intron_variant LIRI-JP 2 238918865 238918865 single base substitution G T intron_variant LIRI-JP 2 238920639 238920639 single base substitution G T intron_variant LIRI-JP 2 238921303 238921303 single base substitution G T intron_variant LIRI-JP 2 238922046 238922046 single base substitution T G intron_variant LIRI-JP 2 238922800 238922800 single base substitution C G intron_variant LIRI-JP 2 238923174 238923174 single base substitution A G intron_variant LIRI-JP 2 238925114 238925114 single base substitution T A intron_variant LIRI-JP 2 238925258 238925258 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 238925258 238925258 single base substitution G A exon_variant LIRI-JP 2 238925258 238925258 single base substitution G A intron_variant LIRI-JP 2 238925258 238925258 single base substitution G A missense_variant D100N 298G>A LIRI-JP 2 238925258 238925258 single base substitution G A missense_variant D57N 169G>A LIRI-JP 2 238925258 238925258 single base substitution G A missense_variant D65N 193G>A LIRI-JP 2 238925258 238925258 single base substitution G A missense_variant D67N 199G>A LIRI-JP 2 238925258 238925258 single base substitution G A missense_variant D79N 235G>A LIRI-JP 2 238925258 238925258 single base substitution G A missense_variant D89N 265G>A LIRI-JP 2 238925278 238925278 single base substitution G T downstream_gene_variant LIRI-JP 2 238925278 238925278 single base substitution G T intron_variant LIRI-JP 2 238925278 238925278 single base substitution G T splice_region_variant LIRI-JP 2 238925499 238925499 single base substitution A T downstream_gene_variant LIRI-JP 2 238925499 238925499 single base substitution A T intron_variant LIRI-JP 2 238931005 238931005 single base substitution G A intron_variant LIRI-JP 2 238931005 238931005 single base substitution G A upstream_gene_variant LIRI-JP 2 238933087 238933087 single base substitution A G intron_variant LIRI-JP 2 238933087 238933087 single base substitution A G upstream_gene_variant LIRI-JP 2 238934014 238934014 single base substitution G C 3_prime_UTR_variant LIRI-JP 2 238934014 238934014 single base substitution G C exon_variant LIRI-JP 2 238934014 238934014 single base substitution G C intron_variant LIRI-JP 2 238934014 238934014 single base substitution G C missense_variant W105S 314G>C LIRI-JP 2 238934014 238934014 single base substitution G C missense_variant W116S 347G>C LIRI-JP 2 238934014 238934014 single base substitution G C missense_variant W73S 218G>C LIRI-JP 2 238934014 238934014 single base substitution G C missense_variant W81S 242G>C LIRI-JP 2 238934014 238934014 single base substitution G C missense_variant W83S 248G>C LIRI-JP 2 238934014 238934014 single base substitution G C missense_variant W95S 284G>C LIRI-JP 2 238934015 238934015 single base substitution G T 3_prime_UTR_variant LIRI-JP 2 238934015 238934015 single base substitution G T exon_variant LIRI-JP 2 238934015 238934015 single base substitution G T intron_variant LIRI-JP 2 238934015 238934015 single base substitution G T missense_variant W105C 315G>T LIRI-JP 2 238934015 238934015 single base substitution G T missense_variant W116C 348G>T LIRI-JP 2 238934015 238934015 single base substitution G T missense_variant W73C 219G>T LIRI-JP 2 238934015 238934015 single base substitution G T missense_variant W81C 243G>T LIRI-JP 2 238934015 238934015 single base substitution G T missense_variant W83C 249G>T LIRI-JP 2 238934015 238934015 single base substitution G T missense_variant W95C 285G>T LIRI-JP 2 238936384 238936384 single base substitution A G intron_variant LIRI-JP 2 238940097 238940097 single base substitution C A downstream_gene_variant LIRI-JP 2 238940097 238940097 single base substitution C A intron_variant LIRI-JP 2 238940097 238940097 single base substitution C A upstream_gene_variant LIRI-JP 2 238940622 238940622 single base substitution G T downstream_gene_variant LIRI-JP 2 238940622 238940622 single base substitution G T intron_variant LIRI-JP 2 238940622 238940622 single base substitution G T upstream_gene_variant LIRI-JP 2 238941341 238941341 single base substitution G A downstream_gene_variant LIRI-JP 2 238941341 238941341 single base substitution G A intron_variant LIRI-JP 2 238941341 238941341 single base substitution G A upstream_gene_variant LIRI-JP 2 238942529 238942529 single base substitution C G downstream_gene_variant LIRI-JP 2 238942529 238942529 single base substitution C G intron_variant LIRI-JP 2 238942529 238942529 single base substitution C G upstream_gene_variant LIRI-JP 2 238943579 238943579 single base substitution G A downstream_gene_variant LIRI-JP 2 238943579 238943579 single base substitution G A intron_variant LIRI-JP 2 238943579 238943579 single base substitution G A upstream_gene_variant LIRI-JP 2 238948964 238948964 single base substitution A G downstream_gene_variant LIRI-JP 2 238948964 238948964 single base substitution A G intron_variant LIRI-JP 2 238950911 238950911 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 238950911 238950911 single base substitution A G downstream_gene_variant LIRI-JP 2 238951733 238951733 single base substitution C T downstream_gene_variant LIRI-JP 2 238953675 238953675 single base substitution G T downstream_gene_variant LIRI-JP 2 238953842 238953842 single base substitution C A downstream_gene_variant LIRI-JP 2 238955826 238955826 single base substitution G A downstream_gene_variant LUSC-KR 2 238873037 238873037 single base substitution G T upstream_gene_variant LUSC-KR 2 238878272 238878272 single base substitution G T intron_variant LUSC-KR 2 238878272 238878272 single base substitution G T upstream_gene_variant LUSC-KR 2 238894083 238894083 single base substitution G A intron_variant LUSC-KR 2 238895287 238895287 single base substitution G T intron_variant LUSC-KR 2 238896495 238896495 single base substitution T A intron_variant LUSC-KR 2 238896512 238896512 single base substitution A T intron_variant LUSC-KR 2 238896764 238896764 single base substitution G T intron_variant LUSC-KR 2 238902318 238902318 single base substitution G T intron_variant LUSC-KR 2 238904445 238904445 single base substitution G T intron_variant LUSC-KR 2 238914474 238914474 single base substitution G C intron_variant LUSC-KR 2 238920885 238920885 single base substitution T G intron_variant LUSC-KR 2 238922095 238922095 single base substitution G C intron_variant LUSC-KR 2 238935661 238935661 single base substitution G A intron_variant LUSC-KR 2 238938758 238938758 single base substitution C A intron_variant LUSC-KR 2 238939370 238939370 single base substitution C T downstream_gene_variant LUSC-KR 2 238939370 238939370 single base substitution C T intron_variant LUSC-KR 2 238939370 238939370 single base substitution C T upstream_gene_variant LUSC-KR 2 238939735 238939735 single base substitution C A downstream_gene_variant LUSC-KR 2 238939735 238939735 single base substitution C A intron_variant LUSC-KR 2 238939735 238939735 single base substitution C A upstream_gene_variant LUSC-KR 2 238944660 238944660 single base substitution G C downstream_gene_variant LUSC-KR 2 238944660 238944660 single base substitution G C intron_variant LUSC-KR 2 238948486 238948486 single base substitution A T downstream_gene_variant LUSC-KR 2 238948486 238948486 single base substitution A T intron_variant LUSC-KR 2 238948592 238948592 single base substitution G C downstream_gene_variant LUSC-KR 2 238948592 238948592 single base substitution G C intron_variant LUSC-KR 2 238949289 238949289 single base substitution G A downstream_gene_variant LUSC-KR 2 238949289 238949289 single base substitution G A intron_variant LUSC-KR 2 238949290 238949290 single base substitution G T downstream_gene_variant LUSC-KR 2 238949290 238949290 single base substitution G T intron_variant MALY-DE 2 238874272 238874272 single base substitution G A upstream_gene_variant MALY-DE 2 238895213 238895213 insertion of <=200bp - A intron_variant MALY-DE 2 238903327 238903327 single base substitution G A intron_variant MALY-DE 2 238926456 238926456 single base substitution G A downstream_gene_variant MALY-DE 2 238926456 238926456 single base substitution G A intron_variant MALY-DE 2 238932924 238932924 single base substitution T C intron_variant MALY-DE 2 238932924 238932924 single base substitution T C upstream_gene_variant MALY-DE 2 238933191 238933191 single base substitution C T intron_variant MALY-DE 2 238933191 238933191 single base substitution C T upstream_gene_variant MALY-DE 2 238945520 238945530 deletion of <=200bp CTAGCACCCTC - downstream_gene_variant MALY-DE 2 238945520 238945530 deletion of <=200bp CTAGCACCCTC - intron_variant MALY-DE 2 238947386 238947386 single base substitution C T downstream_gene_variant MALY-DE 2 238947386 238947386 single base substitution C T intron_variant MALY-DE 2 238955596 238955596 single base substitution G A downstream_gene_variant MELA-AU 2 238870474 238870474 single base substitution G A upstream_gene_variant MELA-AU 2 238870798 238870798 single base substitution G A upstream_gene_variant MELA-AU 2 238870917 238870917 single base substitution C T upstream_gene_variant MELA-AU 2 238871011 238871011 single base substitution G A upstream_gene_variant MELA-AU 2 238871376 238871376 single base substitution C T upstream_gene_variant MELA-AU 2 238871393 238871393 single base substitution C T upstream_gene_variant MELA-AU 2 238871477 238871477 single base substitution G A upstream_gene_variant MELA-AU 2 238871665 238871665 single base substitution G A upstream_gene_variant MELA-AU 2 238872303 238872303 single base substitution G A upstream_gene_variant MELA-AU 2 238872337 238872337 single base substitution G A upstream_gene_variant MELA-AU 2 238872582 238872582 single base substitution A T upstream_gene_variant MELA-AU 2 238872740 238872740 single base substitution C T upstream_gene_variant MELA-AU 2 238873038 238873038 single base substitution G A upstream_gene_variant MELA-AU 2 238873216 238873216 single base substitution C T upstream_gene_variant MELA-AU 2 238873453 238873453 single base substitution A G upstream_gene_variant MELA-AU 2 238873616 238873616 single base substitution G A upstream_gene_variant MELA-AU 2 238874209 238874209 single base substitution G A upstream_gene_variant MELA-AU 2 238874250 238874250 single base substitution C T upstream_gene_variant MELA-AU 2 238874353 238874353 single base substitution T C upstream_gene_variant MELA-AU 2 238874814 238874814 single base substitution C T upstream_gene_variant MELA-AU 2 238875082 238875082 single base substitution G A upstream_gene_variant MELA-AU 2 238875412 238875412 single base substitution C T upstream_gene_variant MELA-AU 2 238875450 238875450 single base substitution G A upstream_gene_variant MELA-AU 2 238875455 238875455 single base substitution C T upstream_gene_variant MELA-AU 2 238875456 238875456 single base substitution C T upstream_gene_variant MELA-AU 2 238875466 238875466 single base substitution C T upstream_gene_variant MELA-AU 2 238876368 238876368 single base substitution C A intron_variant MELA-AU 2 238876368 238876368 single base substitution C A upstream_gene_variant MELA-AU 2 238876769 238876769 single base substitution G A intron_variant MELA-AU 2 238876769 238876769 single base substitution G A upstream_gene_variant MELA-AU 2 238878707 238878707 single base substitution C T intron_variant MELA-AU 2 238878707 238878707 single base substitution C T upstream_gene_variant MELA-AU 2 238879802 238879802 single base substitution T A intron_variant MELA-AU 2 238879802 238879802 single base substitution T A upstream_gene_variant MELA-AU 2 238879858 238879858 single base substitution G A intron_variant MELA-AU 2 238879858 238879858 single base substitution G A upstream_gene_variant MELA-AU 2 238880386 238880387 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 2 238880386 238880387 multiple base substitution (>=2bp and <=200bp) TT AA upstream_gene_variant MELA-AU 2 238881858 238881858 single base substitution C T exon_variant MELA-AU 2 238881858 238881858 single base substitution C T intron_variant MELA-AU 2 238881858 238881858 single base substitution C T missense_variant L37F 109C>T MELA-AU 2 238882778 238882778 single base substitution G A intron_variant MELA-AU 2 238882829 238882829 single base substitution C T intron_variant MELA-AU 2 238882947 238882947 single base substitution C T intron_variant MELA-AU 2 238883186 238883186 single base substitution C T intron_variant MELA-AU 2 238883196 238883196 single base substitution C T intron_variant MELA-AU 2 238883382 238883382 single base substitution C T intron_variant MELA-AU 2 238884661 238884661 single base substitution G A intron_variant MELA-AU 2 238885172 238885172 single base substitution C T intron_variant MELA-AU 2 238885616 238885617 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 238885717 238885717 single base substitution C T intron_variant MELA-AU 2 238886270 238886270 single base substitution C T intron_variant MELA-AU 2 238886433 238886433 single base substitution C T intron_variant MELA-AU 2 238887019 238887019 single base substitution C T intron_variant MELA-AU 2 238887383 238887383 single base substitution G A intron_variant MELA-AU 2 238887586 238887586 single base substitution T C intron_variant MELA-AU 2 238887742 238887742 single base substitution G A intron_variant MELA-AU 2 238888614 238888614 single base substitution C T intron_variant MELA-AU 2 238888958 238888958 single base substitution C T intron_variant MELA-AU 2 238889628 238889628 single base substitution C T intron_variant MELA-AU 2 238890194 238890194 single base substitution C T intron_variant MELA-AU 2 238890834 238890834 single base substitution C T intron_variant MELA-AU 2 238890917 238890917 single base substitution C T intron_variant MELA-AU 2 238891600 238891600 single base substitution C T intron_variant MELA-AU 2 238891982 238891983 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 238892027 238892027 single base substitution C T intron_variant MELA-AU 2 238892365 238892365 single base substitution T C intron_variant MELA-AU 2 238892675 238892675 single base substitution C T intron_variant MELA-AU 2 238892789 238892789 single base substitution C T intron_variant MELA-AU 2 238893213 238893213 single base substitution C T intron_variant MELA-AU 2 238894056 238894056 single base substitution C T intron_variant MELA-AU 2 238894151 238894151 single base substitution C T intron_variant MELA-AU 2 238894476 238894476 single base substitution C T intron_variant MELA-AU 2 238894507 238894507 single base substitution C T intron_variant MELA-AU 2 238894673 238894673 single base substitution T C intron_variant MELA-AU 2 238894699 238894700 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 238895420 238895420 single base substitution C T intron_variant MELA-AU 2 238896074 238896074 single base substitution T G intron_variant MELA-AU 2 238896097 238896097 single base substitution C T intron_variant MELA-AU 2 238896887 238896887 single base substitution C T intron_variant MELA-AU 2 238897416 238897416 single base substitution C T intron_variant MELA-AU 2 238897661 238897662 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 238897687 238897687 single base substitution C T intron_variant MELA-AU 2 238897760 238897760 single base substitution A G intron_variant MELA-AU 2 238898086 238898086 single base substitution C T intron_variant MELA-AU 2 238898508 238898508 single base substitution C T intron_variant MELA-AU 2 238898558 238898558 single base substitution C T intron_variant MELA-AU 2 238899332 238899333 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 238900277 238900277 single base substitution C T intron_variant MELA-AU 2 238901262 238901262 single base substitution T C intron_variant MELA-AU 2 238901768 238901768 single base substitution T A intron_variant MELA-AU 2 238902252 238902252 single base substitution G A intron_variant MELA-AU 2 238903270 238903270 single base substitution C T intron_variant MELA-AU 2 238903589 238903589 single base substitution G A intron_variant MELA-AU 2 238903639 238903639 single base substitution G A intron_variant MELA-AU 2 238903761 238903761 single base substitution C T intron_variant MELA-AU 2 238903847 238903847 single base substitution C T intron_variant MELA-AU 2 238903865 238903866 multiple base substitution (>=2bp and <=200bp) TG GT intron_variant MELA-AU 2 238904301 238904301 single base substitution C T intron_variant MELA-AU 2 238905109 238905109 single base substitution C T intron_variant MELA-AU 2 238905115 238905116 deletion of <=200bp CG - intron_variant MELA-AU 2 238905120 238905120 single base substitution T G intron_variant MELA-AU 2 238905440 238905440 single base substitution T A intron_variant MELA-AU 2 238906100 238906100 single base substitution G A intron_variant MELA-AU 2 238906165 238906165 single base substitution A G intron_variant MELA-AU 2 238907281 238907281 single base substitution C T intron_variant MELA-AU 2 238907563 238907564 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 238907654 238907654 single base substitution C T intron_variant MELA-AU 2 238907693 238907693 single base substitution C T intron_variant MELA-AU 2 238908243 238908243 single base substitution C T intron_variant MELA-AU 2 238908712 238908713 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 238909475 238909475 single base substitution C T intron_variant MELA-AU 2 238909639 238909639 single base substitution G A intron_variant MELA-AU 2 238910261 238910261 single base substitution C T intron_variant MELA-AU 2 238910285 238910285 single base substitution C T intron_variant MELA-AU 2 238910363 238910363 single base substitution G A intron_variant MELA-AU 2 238910389 238910389 single base substitution G A intron_variant MELA-AU 2 238910456 238910456 single base substitution C T intron_variant MELA-AU 2 238912009 238912009 single base substitution G A intron_variant MELA-AU 2 238912009 238912009 single base substitution G A splice_acceptor_variant MELA-AU 2 238912209 238912209 single base substitution C T intron_variant MELA-AU 2 238912240 238912240 single base substitution G A intron_variant MELA-AU 2 238912377 238912377 single base substitution C T intron_variant MELA-AU 2 238912567 238912567 single base substitution C T intron_variant MELA-AU 2 238913073 238913090 deletion of <=200bp TTTAAGAGTTCTTTACCA - intron_variant MELA-AU 2 238913198 238913199 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 238913207 238913207 single base substitution C T intron_variant MELA-AU 2 238913343 238913343 deletion of <=200bp A - intron_variant MELA-AU 2 238913421 238913421 single base substitution C T intron_variant MELA-AU 2 238913944 238913944 single base substitution C T intron_variant MELA-AU 2 238914471 238914471 single base substitution T C intron_variant MELA-AU 2 238915045 238915045 single base substitution C T intron_variant MELA-AU 2 238915263 238915263 single base substitution G A intron_variant MELA-AU 2 238915438 238915438 single base substitution C T intron_variant MELA-AU 2 238915521 238915521 single base substitution C T intron_variant MELA-AU 2 238915962 238915962 single base substitution C T intron_variant MELA-AU 2 238916367 238916367 single base substitution C T intron_variant MELA-AU 2 238916414 238916414 single base substitution T C intron_variant MELA-AU 2 238916659 238916659 single base substitution G A intron_variant MELA-AU 2 238916718 238916718 single base substitution C T intron_variant MELA-AU 2 238917539 238917539 single base substitution C T intron_variant MELA-AU 2 238917540 238917540 single base substitution C T intron_variant MELA-AU 2 238917802 238917802 single base substitution C T intron_variant MELA-AU 2 238917945 238917945 single base substitution T C intron_variant MELA-AU 2 238918239 238918239 single base substitution C T intron_variant MELA-AU 2 238918600 238918600 single base substitution T C intron_variant MELA-AU 2 238918974 238918974 single base substitution C T intron_variant MELA-AU 2 238918998 238918998 single base substitution T C intron_variant MELA-AU 2 238919228 238919228 single base substitution T A intron_variant MELA-AU 2 238919486 238919486 single base substitution T G intron_variant MELA-AU 2 238919672 238919672 single base substitution C T intron_variant MELA-AU 2 238919696 238919696 single base substitution T C intron_variant MELA-AU 2 238920033 238920033 single base substitution C T intron_variant MELA-AU 2 238920070 238920070 single base substitution C T intron_variant MELA-AU 2 238920159 238920159 single base substitution C T intron_variant MELA-AU 2 238920249 238920249 single base substitution T A intron_variant MELA-AU 2 238920422 238920422 single base substitution T C intron_variant MELA-AU 2 238920535 238920535 single base substitution T G intron_variant MELA-AU 2 238920637 238920637 single base substitution C T intron_variant MELA-AU 2 238920796 238920796 single base substitution G A intron_variant MELA-AU 2 238920986 238920986 single base substitution C T intron_variant MELA-AU 2 238921312 238921312 single base substitution T C intron_variant MELA-AU 2 238921641 238921641 single base substitution G A intron_variant MELA-AU 2 238922276 238922276 single base substitution A T intron_variant MELA-AU 2 238922330 238922330 single base substitution C T intron_variant MELA-AU 2 238922656 238922656 single base substitution C T intron_variant MELA-AU 2 238922771 238922771 single base substitution C T intron_variant MELA-AU 2 238923365 238923365 single base substitution C T intron_variant MELA-AU 2 238923528 238923528 single base substitution C T intron_variant MELA-AU 2 238924032 238924032 single base substitution C T intron_variant MELA-AU 2 238924953 238924953 single base substitution C T intron_variant MELA-AU 2 238925104 238925104 single base substitution C T intron_variant MELA-AU 2 238925544 238925544 single base substitution C T downstream_gene_variant MELA-AU 2 238925544 238925544 single base substitution C T intron_variant MELA-AU 2 238925999 238925999 single base substitution C T downstream_gene_variant MELA-AU 2 238925999 238925999 single base substitution C T intron_variant MELA-AU 2 238926066 238926066 single base substitution A C downstream_gene_variant MELA-AU 2 238926066 238926066 single base substitution A C intron_variant MELA-AU 2 238926273 238926273 single base substitution C T downstream_gene_variant MELA-AU 2 238926273 238926273 single base substitution C T intron_variant MELA-AU 2 238926483 238926483 single base substitution C T downstream_gene_variant MELA-AU 2 238926483 238926483 single base substitution C T intron_variant MELA-AU 2 238926598 238926598 single base substitution G A downstream_gene_variant MELA-AU 2 238926598 238926598 single base substitution G A intron_variant MELA-AU 2 238926897 238926897 single base substitution G A downstream_gene_variant MELA-AU 2 238926897 238926897 single base substitution G A intron_variant MELA-AU 2 238926958 238926958 single base substitution C T downstream_gene_variant MELA-AU 2 238926958 238926958 single base substitution C T intron_variant MELA-AU 2 238926975 238926975 single base substitution G A downstream_gene_variant MELA-AU 2 238926975 238926975 single base substitution G A intron_variant MELA-AU 2 238927554 238927554 single base substitution A G downstream_gene_variant MELA-AU 2 238927554 238927554 single base substitution A G intron_variant MELA-AU 2 238927625 238927625 single base substitution C T downstream_gene_variant MELA-AU 2 238927625 238927625 single base substitution C T intron_variant MELA-AU 2 238927850 238927850 single base substitution C T downstream_gene_variant MELA-AU 2 238927850 238927850 single base substitution C T intron_variant MELA-AU 2 238927996 238927996 single base substitution C T downstream_gene_variant MELA-AU 2 238927996 238927996 single base substitution C T intron_variant MELA-AU 2 238928011 238928011 single base substitution C T downstream_gene_variant MELA-AU 2 238928011 238928011 single base substitution C T intron_variant MELA-AU 2 238928514 238928514 single base substitution T C downstream_gene_variant MELA-AU 2 238928514 238928514 single base substitution T C intron_variant MELA-AU 2 238928575 238928575 single base substitution C T downstream_gene_variant MELA-AU 2 238928575 238928575 single base substitution C T intron_variant MELA-AU 2 238929127 238929127 single base substitution C T downstream_gene_variant MELA-AU 2 238929127 238929127 single base substitution C T intron_variant MELA-AU 2 238929127 238929127 single base substitution C T upstream_gene_variant MELA-AU 2 238929293 238929293 single base substitution C T downstream_gene_variant MELA-AU 2 238929293 238929293 single base substitution C T intron_variant MELA-AU 2 238929293 238929293 single base substitution C T upstream_gene_variant MELA-AU 2 238929312 238929312 single base substitution C T downstream_gene_variant MELA-AU 2 238929312 238929312 single base substitution C T intron_variant MELA-AU 2 238929312 238929312 single base substitution C T upstream_gene_variant MELA-AU 2 238929618 238929618 single base substitution G A downstream_gene_variant MELA-AU 2 238929618 238929618 single base substitution G A intron_variant MELA-AU 2 238929618 238929618 single base substitution G A upstream_gene_variant MELA-AU 2 238930630 238930630 single base substitution C T intron_variant MELA-AU 2 238930630 238930630 single base substitution C T upstream_gene_variant MELA-AU 2 238930958 238930958 single base substitution C T intron_variant MELA-AU 2 238930958 238930958 single base substitution C T upstream_gene_variant MELA-AU 2 238931164 238931164 single base substitution T G intron_variant MELA-AU 2 238931164 238931164 single base substitution T G upstream_gene_variant MELA-AU 2 238931224 238931225 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 238931224 238931225 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 238931667 238931668 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 238931667 238931668 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 238932003 238932003 single base substitution C G intron_variant MELA-AU 2 238932003 238932003 single base substitution C G upstream_gene_variant MELA-AU 2 238932137 238932137 single base substitution A G intron_variant MELA-AU 2 238932137 238932137 single base substitution A G upstream_gene_variant MELA-AU 2 238932853 238932853 single base substitution C T intron_variant MELA-AU 2 238932853 238932853 single base substitution C T upstream_gene_variant MELA-AU 2 238933019 238933019 single base substitution C T intron_variant MELA-AU 2 238933019 238933019 single base substitution C T upstream_gene_variant MELA-AU 2 238933162 238933162 single base substitution C T intron_variant MELA-AU 2 238933162 238933162 single base substitution C T upstream_gene_variant MELA-AU 2 238933227 238933227 single base substitution C T intron_variant MELA-AU 2 238933227 238933227 single base substitution C T upstream_gene_variant MELA-AU 2 238933396 238933396 single base substitution C T intron_variant MELA-AU 2 238933396 238933396 single base substitution C T upstream_gene_variant MELA-AU 2 238933622 238933622 single base substitution C T intron_variant MELA-AU 2 238933622 238933622 single base substitution C T upstream_gene_variant MELA-AU 2 238934230 238934230 single base substitution C T intron_variant MELA-AU 2 238934336 238934336 single base substitution C T intron_variant MELA-AU 2 238934977 238934977 single base substitution C T intron_variant MELA-AU 2 238935165 238935165 single base substitution C T intron_variant MELA-AU 2 238935173 238935173 single base substitution C T intron_variant MELA-AU 2 238935464 238935464 single base substitution T A intron_variant MELA-AU 2 238935564 238935564 single base substitution C T intron_variant MELA-AU 2 238935689 238935689 single base substitution C T intron_variant MELA-AU 2 238935774 238935774 single base substitution C T intron_variant MELA-AU 2 238935927 238935927 single base substitution A G intron_variant MELA-AU 2 238936247 238936247 single base substitution C T intron_variant MELA-AU 2 238936513 238936513 single base substitution C T intron_variant MELA-AU 2 238936887 238936887 single base substitution G A intron_variant MELA-AU 2 238937802 238937802 single base substitution C T intron_variant MELA-AU 2 238937831 238937831 single base substitution C T intron_variant MELA-AU 2 238937953 238937953 single base substitution G A intron_variant MELA-AU 2 238938230 238938231 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 238938565 238938565 single base substitution T G intron_variant MELA-AU 2 238938722 238938722 single base substitution C T intron_variant MELA-AU 2 238939794 238939794 single base substitution C T downstream_gene_variant MELA-AU 2 238939794 238939794 single base substitution C T intron_variant MELA-AU 2 238939794 238939794 single base substitution C T upstream_gene_variant MELA-AU 2 238939873 238939873 single base substitution C T downstream_gene_variant MELA-AU 2 238939873 238939873 single base substitution C T intron_variant MELA-AU 2 238939873 238939873 single base substitution C T upstream_gene_variant MELA-AU 2 238939927 238939927 single base substitution C T downstream_gene_variant MELA-AU 2 238939927 238939927 single base substitution C T intron_variant MELA-AU 2 238939927 238939927 single base substitution C T upstream_gene_variant MELA-AU 2 238940172 238940172 single base substitution G A downstream_gene_variant MELA-AU 2 238940172 238940172 single base substitution G A intron_variant MELA-AU 2 238940172 238940172 single base substitution G A upstream_gene_variant MELA-AU 2 238941513 238941513 single base substitution G A downstream_gene_variant MELA-AU 2 238941513 238941513 single base substitution G A intron_variant MELA-AU 2 238941513 238941513 single base substitution G A upstream_gene_variant MELA-AU 2 238941604 238941604 single base substitution C T downstream_gene_variant MELA-AU 2 238941604 238941604 single base substitution C T intron_variant MELA-AU 2 238941604 238941604 single base substitution C T upstream_gene_variant MELA-AU 2 238941657 238941657 single base substitution T A downstream_gene_variant MELA-AU 2 238941657 238941657 single base substitution T A intron_variant MELA-AU 2 238941657 238941657 single base substitution T A upstream_gene_variant MELA-AU 2 238941714 238941714 single base substitution G A downstream_gene_variant MELA-AU 2 238941714 238941714 single base substitution G A intron_variant MELA-AU 2 238941714 238941714 single base substitution G A upstream_gene_variant MELA-AU 2 238941758 238941759 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 238941758 238941759 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 238941758 238941759 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 238942153 238942153 single base substitution C T downstream_gene_variant MELA-AU 2 238942153 238942153 single base substitution C T intron_variant MELA-AU 2 238942153 238942153 single base substitution C T upstream_gene_variant MELA-AU 2 238942608 238942609 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 238942608 238942609 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 238942608 238942609 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 238942630 238942630 single base substitution G T downstream_gene_variant MELA-AU 2 238942630 238942630 single base substitution G T intron_variant MELA-AU 2 238942630 238942630 single base substitution G T upstream_gene_variant MELA-AU 2 238942681 238942681 single base substitution C T downstream_gene_variant MELA-AU 2 238942681 238942681 single base substitution C T intron_variant MELA-AU 2 238942681 238942681 single base substitution C T upstream_gene_variant MELA-AU 2 238942951 238942951 single base substitution C T downstream_gene_variant MELA-AU 2 238942951 238942951 single base substitution C T intron_variant MELA-AU 2 238942951 238942951 single base substitution C T upstream_gene_variant MELA-AU 2 238943255 238943255 single base substitution A G downstream_gene_variant MELA-AU 2 238943255 238943255 single base substitution A G intron_variant MELA-AU 2 238943255 238943255 single base substitution A G upstream_gene_variant MELA-AU 2 238943451 238943451 single base substitution T G downstream_gene_variant MELA-AU 2 238943451 238943451 single base substitution T G intron_variant MELA-AU 2 238943451 238943451 single base substitution T G upstream_gene_variant MELA-AU 2 238943987 238943987 single base substitution G A downstream_gene_variant MELA-AU 2 238943987 238943987 single base substitution G A exon_variant MELA-AU 2 238943987 238943987 single base substitution G A intron_variant MELA-AU 2 238944844 238944844 single base substitution C T downstream_gene_variant MELA-AU 2 238944844 238944844 single base substitution C T intron_variant MELA-AU 2 238945080 238945080 single base substitution C T downstream_gene_variant MELA-AU 2 238945080 238945080 single base substitution C T intron_variant MELA-AU 2 238945457 238945457 single base substitution C T downstream_gene_variant MELA-AU 2 238945457 238945457 single base substitution C T intron_variant MELA-AU 2 238945644 238945644 single base substitution T C downstream_gene_variant MELA-AU 2 238945644 238945644 single base substitution T C intron_variant MELA-AU 2 238945839 238945839 single base substitution A G downstream_gene_variant MELA-AU 2 238945839 238945839 single base substitution A G intron_variant MELA-AU 2 238946030 238946030 single base substitution G A downstream_gene_variant MELA-AU 2 238946030 238946030 single base substitution G A intron_variant MELA-AU 2 238946980 238946980 single base substitution C T downstream_gene_variant MELA-AU 2 238946980 238946980 single base substitution C T intron_variant MELA-AU 2 238947145 238947145 single base substitution C T downstream_gene_variant MELA-AU 2 238947145 238947145 single base substitution C T intron_variant MELA-AU 2 238947353 238947353 single base substitution C T downstream_gene_variant MELA-AU 2 238947353 238947353 single base substitution C T intron_variant MELA-AU 2 238947707 238947707 single base substitution C T downstream_gene_variant MELA-AU 2 238947707 238947707 single base substitution C T intron_variant MELA-AU 2 238948499 238948499 single base substitution T C downstream_gene_variant MELA-AU 2 238948499 238948499 single base substitution T C intron_variant MELA-AU 2 238948734 238948734 single base substitution A G downstream_gene_variant MELA-AU 2 238948734 238948734 single base substitution A G intron_variant MELA-AU 2 238948980 238948980 single base substitution G A downstream_gene_variant MELA-AU 2 238948980 238948980 single base substitution G A intron_variant MELA-AU 2 238949161 238949161 single base substitution G A downstream_gene_variant MELA-AU 2 238949161 238949161 single base substitution G A intron_variant MELA-AU 2 238949642 238949642 single base substitution C T intron_variant MELA-AU 2 238949684 238949684 single base substitution C T intron_variant MELA-AU 2 238949855 238949855 single base substitution C T intron_variant MELA-AU 2 238950135 238950135 single base substitution A G 3_prime_UTR_variant MELA-AU 2 238950135 238950135 single base substitution A G downstream_gene_variant MELA-AU 2 238950135 238950135 single base substitution A G exon_variant MELA-AU 2 238950734 238950734 single base substitution C T 3_prime_UTR_variant MELA-AU 2 238950734 238950734 single base substitution C T downstream_gene_variant MELA-AU 2 238950866 238950866 single base substitution G A 3_prime_UTR_variant MELA-AU 2 238950866 238950866 single base substitution G A downstream_gene_variant MELA-AU 2 238951407 238951407 single base substitution C T downstream_gene_variant MELA-AU 2 238951765 238951765 single base substitution T C downstream_gene_variant MELA-AU 2 238952091 238952091 single base substitution C T downstream_gene_variant MELA-AU 2 238952206 238952206 single base substitution C T downstream_gene_variant MELA-AU 2 238952459 238952459 single base substitution T C downstream_gene_variant MELA-AU 2 238953607 238953607 single base substitution C T downstream_gene_variant MELA-AU 2 238953961 238953961 single base substitution C T downstream_gene_variant MELA-AU 2 238953969 238953969 single base substitution C T downstream_gene_variant MELA-AU 2 238954596 238954596 single base substitution A C downstream_gene_variant MELA-AU 2 238954943 238954943 single base substitution C T downstream_gene_variant MELA-AU 2 238955201 238955201 single base substitution C T downstream_gene_variant MELA-AU 2 238955232 238955232 single base substitution C T downstream_gene_variant MELA-AU 2 238955473 238955473 single base substitution C T downstream_gene_variant MELA-AU 2 238955828 238955828 single base substitution G A downstream_gene_variant MELA-AU 2 238955936 238955936 single base substitution C T downstream_gene_variant MELA-AU 2 238956140 238956140 single base substitution C T downstream_gene_variant MELA-AU 2 238956167 238956168 multiple base substitution (>=2bp and <=200bp) AA TT downstream_gene_variant ORCA-IN 2 238913697 238913697 single base substitution A T intron_variant ORCA-IN 2 238925258 238925258 single base substitution G C 3_prime_UTR_variant ORCA-IN 2 238925258 238925258 single base substitution G C exon_variant ORCA-IN 2 238925258 238925258 single base substitution G C intron_variant ORCA-IN 2 238925258 238925258 single base substitution G C missense_variant D100H 298G>C ORCA-IN 2 238925258 238925258 single base substitution G C missense_variant D57H 169G>C ORCA-IN 2 238925258 238925258 single base substitution G C missense_variant D65H 193G>C ORCA-IN 2 238925258 238925258 single base substitution G C missense_variant D67H 199G>C ORCA-IN 2 238925258 238925258 single base substitution G C missense_variant D79H 235G>C ORCA-IN 2 238925258 238925258 single base substitution G C missense_variant D89H 265G>C ORCA-IN 2 238930018 238930018 single base substitution G C downstream_gene_variant ORCA-IN 2 238930018 238930018 single base substitution G C intron_variant ORCA-IN 2 238930018 238930018 single base substitution G C upstream_gene_variant ORCA-IN 2 238947844 238947844 single base substitution C G downstream_gene_variant ORCA-IN 2 238947844 238947844 single base substitution C G intron_variant OV-AU 2 238873814 238873814 single base substitution A T upstream_gene_variant OV-AU 2 238873974 238873974 single base substitution A G upstream_gene_variant OV-AU 2 238877602 238877602 single base substitution C A intron_variant OV-AU 2 238877602 238877602 single base substitution C A upstream_gene_variant OV-AU 2 238877735 238877735 single base substitution G A intron_variant OV-AU 2 238877735 238877735 single base substitution G A upstream_gene_variant OV-AU 2 238881242 238881242 single base substitution G C intron_variant OV-AU 2 238881242 238881242 single base substitution G C upstream_gene_variant OV-AU 2 238903925 238903925 single base substitution G T intron_variant OV-AU 2 238905096 238905096 single base substitution T G intron_variant OV-AU 2 238906542 238906542 single base substitution T G intron_variant OV-AU 2 238910930 238910930 single base substitution C T intron_variant OV-AU 2 238913361 238913361 single base substitution A C intron_variant OV-AU 2 238923323 238923323 single base substitution G T intron_variant OV-AU 2 238931064 238931064 single base substitution C T intron_variant OV-AU 2 238931064 238931064 single base substitution C T upstream_gene_variant OV-AU 2 238933248 238933248 single base substitution G T intron_variant OV-AU 2 238933248 238933248 single base substitution G T upstream_gene_variant OV-AU 2 238937030 238937030 single base substitution T A intron_variant OV-AU 2 238950379 238950379 single base substitution G T 3_prime_UTR_variant OV-AU 2 238950379 238950379 single base substitution G T downstream_gene_variant OV-AU 2 238950379 238950379 single base substitution G T exon_variant PACA-AU 2 238873812 238873812 single base substitution C A upstream_gene_variant PACA-AU 2 238877533 238877533 single base substitution A T 5_prime_UTR_variant PACA-AU 2 238877533 238877533 single base substitution A T intron_variant PACA-AU 2 238877533 238877533 single base substitution A T upstream_gene_variant PACA-AU 2 238881020 238881020 single base substitution G A intron_variant PACA-AU 2 238881020 238881020 single base substitution G A upstream_gene_variant PACA-AU 2 238881535 238881535 single base substitution A C intron_variant PACA-AU 2 238881535 238881535 single base substitution A C upstream_gene_variant PACA-AU 2 238885416 238885416 single base substitution C G intron_variant PACA-AU 2 238892999 238892999 single base substitution C T intron_variant PACA-AU 2 238900656 238900656 single base substitution G A intron_variant PACA-AU 2 238901042 238901042 single base substitution A T intron_variant PACA-AU 2 238901780 238901780 single base substitution C G intron_variant PACA-AU 2 238905115 238905116 deletion of <=200bp CG - intron_variant PACA-AU 2 238906085 238906085 single base substitution C T intron_variant PACA-AU 2 238922418 238922418 single base substitution G A intron_variant PACA-AU 2 238923048 238923048 single base substitution A G intron_variant PACA-AU 2 238926645 238926645 single base substitution T C downstream_gene_variant PACA-AU 2 238926645 238926645 single base substitution T C intron_variant PACA-AU 2 238926859 238926859 single base substitution G A downstream_gene_variant PACA-AU 2 238926859 238926859 single base substitution G A intron_variant PACA-AU 2 238928511 238928511 single base substitution G C downstream_gene_variant PACA-AU 2 238928511 238928511 single base substitution G C intron_variant PACA-AU 2 238937931 238937931 single base substitution A T intron_variant PACA-AU 2 238940910 238940910 single base substitution C A downstream_gene_variant PACA-AU 2 238940910 238940910 single base substitution C A exon_variant PACA-AU 2 238940910 238940910 single base substitution C A intron_variant PACA-AU 2 238940910 238940910 single base substitution C A upstream_gene_variant PACA-AU 2 238946108 238946108 single base substitution G T downstream_gene_variant PACA-AU 2 238946108 238946108 single base substitution G T intron_variant PACA-CA 2 238872201 238872201 single base substitution G A upstream_gene_variant PACA-CA 2 238875604 238875604 single base substitution C T 5_prime_UTR_variant PACA-CA 2 238875604 238875604 single base substitution C T upstream_gene_variant PACA-CA 2 238882303 238882303 single base substitution G A exon_variant PACA-CA 2 238882303 238882303 single base substitution G A intron_variant PACA-CA 2 238886121 238886121 single base substitution C T intron_variant PACA-CA 2 238888380 238888380 single base substitution C G intron_variant PACA-CA 2 238891326 238891326 single base substitution G A intron_variant PACA-CA 2 238898047 238898047 single base substitution T C intron_variant PACA-CA 2 238898498 238898498 single base substitution C T intron_variant PACA-CA 2 238899295 238899295 single base substitution C T intron_variant PACA-CA 2 238902354 238902354 deletion of <=200bp A - intron_variant PACA-CA 2 238907900 238907900 single base substitution C T intron_variant PACA-CA 2 238909660 238909668 deletion of <=200bp GAGATAGAG - intron_variant PACA-CA 2 238910287 238910287 single base substitution G A intron_variant PACA-CA 2 238910418 238910418 single base substitution C T intron_variant PACA-CA 2 238915031 238915031 single base substitution G A intron_variant PACA-CA 2 238916171 238916171 single base substitution T A intron_variant PACA-CA 2 238919093 238919093 single base substitution G A intron_variant PACA-CA 2 238921257 238921257 single base substitution A G intron_variant PACA-CA 2 238923089 238923089 single base substitution G C intron_variant PACA-CA 2 238923838 238923838 single base substitution A G intron_variant PACA-CA 2 238927223 238927223 single base substitution T A downstream_gene_variant PACA-CA 2 238927223 238927223 single base substitution T A intron_variant PACA-CA 2 238927887 238927887 single base substitution T A downstream_gene_variant PACA-CA 2 238927887 238927887 single base substitution T A intron_variant PACA-CA 2 238928730 238928730 single base substitution A G downstream_gene_variant PACA-CA 2 238928730 238928730 single base substitution A G intron_variant PACA-CA 2 238929393 238929393 single base substitution G C downstream_gene_variant PACA-CA 2 238929393 238929393 single base substitution G C intron_variant PACA-CA 2 238929393 238929393 single base substitution G C upstream_gene_variant PACA-CA 2 238929938 238929938 single base substitution G A downstream_gene_variant PACA-CA 2 238929938 238929938 single base substitution G A intron_variant PACA-CA 2 238929938 238929938 single base substitution G A upstream_gene_variant PACA-CA 2 238934021 238934023 deletion of <=200bp CAA - 3_prime_UTR_variant PACA-CA 2 238934021 238934023 deletion of <=200bp CAA - exon_variant PACA-CA 2 238934021 238934023 deletion of <=200bp CAA - inframe_deletion PN107P PACA-CA 2 238934021 238934023 deletion of <=200bp CAA - inframe_deletion PN118P PACA-CA 2 238934021 238934023 deletion of <=200bp CAA - inframe_deletion PN75P PACA-CA 2 238934021 238934023 deletion of <=200bp CAA - inframe_deletion PN83P PACA-CA 2 238934021 238934023 deletion of <=200bp CAA - inframe_deletion PN85P PACA-CA 2 238934021 238934023 deletion of <=200bp CAA - inframe_deletion PN97P PACA-CA 2 238934021 238934023 deletion of <=200bp CAA - intron_variant PACA-CA 2 238936313 238936313 single base substitution G A intron_variant PACA-CA 2 238938681 238938681 single base substitution G C intron_variant PACA-CA 2 238942759 238942759 single base substitution C T downstream_gene_variant PACA-CA 2 238942759 238942759 single base substitution C T intron_variant PACA-CA 2 238942759 238942759 single base substitution C T upstream_gene_variant PACA-CA 2 238945518 238945518 single base substitution C T downstream_gene_variant PACA-CA 2 238945518 238945518 single base substitution C T intron_variant PACA-CA 2 238953589 238953589 single base substitution C T downstream_gene_variant PACA-CA 2 238955214 238955214 single base substitution A G downstream_gene_variant PAEN-AU 2 238872991 238872991 single base substitution G T upstream_gene_variant PAEN-AU 2 238883028 238883028 single base substitution C T intron_variant PAEN-AU 2 238904149 238904149 single base substitution G A intron_variant PAEN-AU 2 238921926 238921926 single base substitution G A intron_variant PAEN-AU 2 238940965 238940965 single base substitution G T downstream_gene_variant PAEN-AU 2 238940965 238940965 single base substitution G T exon_variant PAEN-AU 2 238940965 238940965 single base substitution G T intron_variant PAEN-AU 2 238940965 238940965 single base substitution G T upstream_gene_variant PAEN-AU 2 238951064 238951064 single base substitution G T 3_prime_UTR_variant PAEN-AU 2 238951064 238951064 single base substitution G T downstream_gene_variant PAEN-IT 2 238873062 238873062 single base substitution C T upstream_gene_variant PAEN-IT 2 238916182 238916182 single base substitution G T intron_variant PAEN-IT 2 238928725 238928725 single base substitution G T downstream_gene_variant PAEN-IT 2 238928725 238928725 single base substitution G T intron_variant PAEN-IT 2 238947769 238947769 single base substitution G C downstream_gene_variant PAEN-IT 2 238947769 238947769 single base substitution G C intron_variant PAEN-IT 2 238950524 238950524 single base substitution G A 3_prime_UTR_variant PAEN-IT 2 238950524 238950524 single base substitution G A downstream_gene_variant PAEN-IT 2 238950524 238950524 single base substitution G A exon_variant PBCA-DE 2 238871736 238871736 single base substitution C A upstream_gene_variant PBCA-DE 2 238879319 238879319 single base substitution G A intron_variant PBCA-DE 2 238879319 238879319 single base substitution G A upstream_gene_variant PBCA-DE 2 238880531 238880531 single base substitution C T intron_variant PBCA-DE 2 238880531 238880531 single base substitution C T upstream_gene_variant PBCA-DE 2 238896399 238896399 single base substitution C T intron_variant PBCA-DE 2 238897413 238897413 single base substitution G A intron_variant PBCA-DE 2 238898863 238898863 insertion of <=200bp - G intron_variant PBCA-DE 2 238910063 238910068 deletion of <=200bp TATTGA - intron_variant PBCA-DE 2 238950809 238950809 single base substitution G A 3_prime_UTR_variant PBCA-DE 2 238950809 238950809 single base substitution G A downstream_gene_variant PBCA-DE 2 238951759 238951759 single base substitution C T downstream_gene_variant PRAD-CA 2 238883157 238883157 single base substitution G T intron_variant PRAD-CA 2 238885890 238885890 single base substitution G A intron_variant PRAD-CA 2 238905734 238905734 single base substitution T A intron_variant PRAD-CA 2 238941043 238941043 single base substitution C A downstream_gene_variant PRAD-CA 2 238941043 238941043 single base substitution C A exon_variant PRAD-CA 2 238941043 238941043 single base substitution C A intron_variant PRAD-CA 2 238941043 238941043 single base substitution C A upstream_gene_variant PRAD-CA 2 238947560 238947560 single base substitution G T downstream_gene_variant PRAD-CA 2 238947560 238947560 single base substitution G T intron_variant PRAD-UK 2 238892472 238892479 deletion of <=200bp ATCCCCGA - intron_variant PRAD-UK 2 238910044 238910044 insertion of <=200bp - T intron_variant PRAD-UK 2 238910053 238910053 insertion of <=200bp - T intron_variant PRAD-UK 2 238919218 238919218 single base substitution T C intron_variant PRAD-UK 2 238921046 238921046 single base substitution C A intron_variant RECA-EU 2 238874499 238874499 single base substitution T A upstream_gene_variant RECA-EU 2 238878950 238878950 single base substitution G A intron_variant RECA-EU 2 238878950 238878950 single base substitution G A upstream_gene_variant RECA-EU 2 238882925 238882925 single base substitution G T intron_variant RECA-EU 2 238887766 238887766 single base substitution G T intron_variant RECA-EU 2 238897399 238897399 single base substitution A G intron_variant RECA-EU 2 238900570 238900570 single base substitution C T intron_variant RECA-EU 2 238931243 238931243 single base substitution T G intron_variant RECA-EU 2 238931243 238931243 single base substitution T G upstream_gene_variant RECA-EU 2 238933393 238933393 single base substitution A T intron_variant RECA-EU 2 238933393 238933393 single base substitution A T upstream_gene_variant RECA-EU 2 238934919 238934919 single base substitution T A intron_variant RECA-EU 2 238940238 238940238 single base substitution A T downstream_gene_variant RECA-EU 2 238940238 238940238 single base substitution A T intron_variant RECA-EU 2 238940238 238940238 single base substitution A T upstream_gene_variant RECA-EU 2 238948668 238948668 single base substitution G A downstream_gene_variant RECA-EU 2 238948668 238948668 single base substitution G A intron_variant SKCA-BR 2 238872000 238872000 single base substitution G A upstream_gene_variant SKCA-BR 2 238874129 238874141 deletion of <=200bp AAACACAAGAAAT - upstream_gene_variant SKCA-BR 2 238874153 238874153 single base substitution T G upstream_gene_variant SKCA-BR 2 238875367 238875367 single base substitution A C upstream_gene_variant SKCA-BR 2 238875736 238875736 single base substitution T G 5_prime_UTR_variant SKCA-BR 2 238875736 238875736 single base substitution T G exon_variant SKCA-BR 2 238875736 238875736 single base substitution T G missense_variant L3W 8T>G SKCA-BR 2 238875736 238875736 single base substitution T G upstream_gene_variant SKCA-BR 2 238879215 238879215 single base substitution T G intron_variant SKCA-BR 2 238879215 238879215 single base substitution T G upstream_gene_variant SKCA-BR 2 238879344 238879344 single base substitution G A intron_variant SKCA-BR 2 238879344 238879344 single base substitution G A upstream_gene_variant SKCA-BR 2 238881225 238881225 single base substitution C T intron_variant SKCA-BR 2 238881225 238881225 single base substitution C T upstream_gene_variant SKCA-BR 2 238882844 238882844 single base substitution G A intron_variant SKCA-BR 2 238883733 238883733 single base substitution T A intron_variant SKCA-BR 2 238884349 238884349 single base substitution C T intron_variant SKCA-BR 2 238885728 238885728 single base substitution C T intron_variant SKCA-BR 2 238886907 238886907 single base substitution C T intron_variant SKCA-BR 2 238888968 238888968 single base substitution G A intron_variant SKCA-BR 2 238889655 238889655 single base substitution G A intron_variant SKCA-BR 2 238892382 238892382 single base substitution C T intron_variant SKCA-BR 2 238893638 238893639 deletion of <=200bp CA - intron_variant SKCA-BR 2 238895253 238895253 single base substitution C T intron_variant SKCA-BR 2 238896495 238896495 single base substitution T A intron_variant SKCA-BR 2 238898753 238898755 deletion of <=200bp CAA - intron_variant SKCA-BR 2 238900251 238900251 insertion of <=200bp - CTTTCTTTTTTTTT intron_variant SKCA-BR 2 238900253 238900253 insertion of <=200bp - TTC intron_variant SKCA-BR 2 238900254 238900254 insertion of <=200bp - TC intron_variant SKCA-BR 2 238900255 238900255 single base substitution T C intron_variant SKCA-BR 2 238901660 238901660 single base substitution C T intron_variant SKCA-BR 2 238905118 238905119 deletion of <=200bp GT - intron_variant SKCA-BR 2 238913198 238913198 single base substitution G T intron_variant SKCA-BR 2 238920474 238920474 single base substitution T G intron_variant SKCA-BR 2 238923528 238923528 single base substitution C T intron_variant SKCA-BR 2 238924934 238924934 single base substitution C T intron_variant SKCA-BR 2 238924958 238924958 single base substitution C T intron_variant SKCA-BR 2 238928371 238928371 single base substitution A G downstream_gene_variant SKCA-BR 2 238928371 238928371 single base substitution A G intron_variant SKCA-BR 2 238929583 238929583 single base substitution G A downstream_gene_variant SKCA-BR 2 238929583 238929583 single base substitution G A intron_variant SKCA-BR 2 238929583 238929583 single base substitution G A upstream_gene_variant SKCA-BR 2 238930419 238930419 single base substitution T A intron_variant SKCA-BR 2 238930419 238930419 single base substitution T A upstream_gene_variant SKCA-BR 2 238932466 238932466 single base substitution T G intron_variant SKCA-BR 2 238932466 238932466 single base substitution T G upstream_gene_variant SKCA-BR 2 238935158 238935158 single base substitution T G intron_variant SKCA-BR 2 238937270 238937270 single base substitution C T intron_variant SKCA-BR 2 238938034 238938034 single base substitution C T intron_variant SKCA-BR 2 238944148 238944148 single base substitution T A downstream_gene_variant SKCA-BR 2 238944148 238944148 single base substitution T A exon_variant SKCA-BR 2 238944148 238944148 single base substitution T A intron_variant SKCA-BR 2 238945685 238945685 single base substitution C T downstream_gene_variant SKCA-BR 2 238945685 238945685 single base substitution C T intron_variant SKCA-BR 2 238946415 238946415 single base substitution T A downstream_gene_variant SKCA-BR 2 238946415 238946415 single base substitution T A intron_variant SKCA-BR 2 238946489 238946489 single base substitution A C downstream_gene_variant SKCA-BR 2 238946489 238946489 single base substitution A C intron_variant SKCA-BR 2 238949616 238949616 single base substitution G A intron_variant SKCA-BR 2 238952982 238952982 single base substitution T G downstream_gene_variant SKCM-US 2 238881789 238881789 single base substitution C T exon_variant SKCM-US 2 238881789 238881789 single base substitution C T intron_variant SKCM-US 2 238881789 238881789 single base substitution C T missense_variant L14F 40C>T SKCM-US 2 238881822 238881822 single base substitution G A exon_variant SKCM-US 2 238881822 238881822 single base substitution G A intron_variant SKCM-US 2 238881822 238881822 single base substitution G A missense_variant D25N 73G>A SKCM-US 2 238925255 238925255 single base substitution C T 3_prime_UTR_variant SKCM-US 2 238925255 238925255 single base substitution C T exon_variant SKCM-US 2 238925255 238925255 single base substitution C T intron_variant SKCM-US 2 238925255 238925255 single base substitution C T missense_variant P56S 166C>T SKCM-US 2 238925255 238925255 single base substitution C T missense_variant P64S 190C>T SKCM-US 2 238925255 238925255 single base substitution C T missense_variant P66S 196C>T SKCM-US 2 238925255 238925255 single base substitution C T missense_variant P78S 232C>T SKCM-US 2 238925255 238925255 single base substitution C T missense_variant P88S 262C>T SKCM-US 2 238925255 238925255 single base substitution C T missense_variant P99S 295C>T SKCM-US 2 238939237 238939237 single base substitution C T 3_prime_UTR_variant SKCM-US 2 238939237 238939237 single base substitution C T downstream_gene_variant SKCM-US 2 238939237 238939237 single base substitution C T exon_variant SKCM-US 2 238939237 238939237 single base substitution C T intron_variant SKCM-US 2 238939237 238939237 single base substitution C T missense_variant P100S 298C>T SKCM-US 2 238939237 238939237 single base substitution C T missense_variant P108S 322C>T SKCM-US 2 238939237 238939237 single base substitution C T missense_variant P110S 328C>T SKCM-US 2 238939237 238939237 single base substitution C T missense_variant P122S 364C>T SKCM-US 2 238939237 238939237 single base substitution C T missense_variant P132S 394C>T SKCM-US 2 238939237 238939237 single base substitution C T upstream_gene_variant SKCM-US 2 238940868 238940868 single base substitution C T 3_prime_UTR_variant SKCM-US 2 238940868 238940868 single base substitution C T downstream_gene_variant SKCM-US 2 238940868 238940868 single base substitution C T exon_variant SKCM-US 2 238940868 238940868 single base substitution C T intron_variant SKCM-US 2 238940868 238940868 single base substitution C T synonymous_variant V107V 321C>T SKCM-US 2 238940868 238940868 single base substitution C T synonymous_variant V115V 345C>T SKCM-US 2 238940868 238940868 single base substitution C T synonymous_variant V117V 351C>T SKCM-US 2 238940868 238940868 single base substitution C T synonymous_variant V129V 387C>T SKCM-US 2 238940868 238940868 single base substitution C T synonymous_variant V139V 417C>T SKCM-US 2 238940868 238940868 single base substitution C T upstream_gene_variant SKCM-US 2 238940897 238940897 single base substitution T C downstream_gene_variant SKCM-US 2 238940897 238940897 single base substitution T C exon_variant SKCM-US 2 238940897 238940897 single base substitution T C intron_variant SKCM-US 2 238940897 238940897 single base substitution T C splice_donor_variant SKCM-US 2 238940897 238940897 single base substitution T C upstream_gene_variant SKCM-US 2 238944540 238944540 single base substitution C T 3_prime_UTR_variant SKCM-US 2 238944540 238944540 single base substitution C T downstream_gene_variant SKCM-US 2 238944540 238944540 single base substitution C T exon_variant SKCM-US 2 238944540 238944540 single base substitution C T intron_variant SKCM-US 2 238944540 238944540 single base substitution C T missense_variant P124S 370C>T SKCM-US 2 238944540 238944540 single base substitution C T missense_variant P132S 394C>T SKCM-US 2 238944540 238944540 single base substitution C T missense_variant P134S 400C>T SKCM-US 2 238944540 238944540 single base substitution C T missense_variant P146S 436C>T SKCM-US 2 238944540 238944540 single base substitution C T missense_variant P156S 466C>T STAD-US 2 238881799 238881799 single base substitution C T exon_variant STAD-US 2 238881799 238881799 single base substitution C T intron_variant STAD-US 2 238881799 238881799 single base substitution C T missense_variant S17F 50C>T STAD-US 2 238881818 238881818 single base substitution G A exon_variant STAD-US 2 238881818 238881818 single base substitution G A intron_variant STAD-US 2 238881818 238881818 single base substitution G A synonymous_variant A23A 69G>A STAD-US 2 238925217 238925217 single base substitution A G 3_prime_UTR_variant STAD-US 2 238925217 238925217 single base substitution A G exon_variant STAD-US 2 238925217 238925217 single base substitution A G intron_variant STAD-US 2 238925217 238925217 single base substitution A G missense_variant Y43C 128A>G STAD-US 2 238925217 238925217 single base substitution A G missense_variant Y51C 152A>G STAD-US 2 238925217 238925217 single base substitution A G missense_variant Y53C 158A>G STAD-US 2 238925217 238925217 single base substitution A G missense_variant Y65C 194A>G STAD-US 2 238925217 238925217 single base substitution A G missense_variant Y75C 224A>G STAD-US 2 238925217 238925217 single base substitution A G missense_variant Y86C 257A>G STAD-US 2 238940868 238940868 single base substitution C T 3_prime_UTR_variant STAD-US 2 238940868 238940868 single base substitution C T downstream_gene_variant STAD-US 2 238940868 238940868 single base substitution C T exon_variant STAD-US 2 238940868 238940868 single base substitution C T intron_variant STAD-US 2 238940868 238940868 single base substitution C T synonymous_variant V107V 321C>T STAD-US 2 238940868 238940868 single base substitution C T synonymous_variant V115V 345C>T STAD-US 2 238940868 238940868 single base substitution C T synonymous_variant V117V 351C>T STAD-US 2 238940868 238940868 single base substitution C T synonymous_variant V129V 387C>T STAD-US 2 238940868 238940868 single base substitution C T synonymous_variant V139V 417C>T STAD-US 2 238940868 238940868 single base substitution C T upstream_gene_variant STAD-US 2 238944574 238944574 single base substitution G A 3_prime_UTR_variant STAD-US 2 238944574 238944574 single base substitution G A downstream_gene_variant STAD-US 2 238944574 238944574 single base substitution G A exon_variant STAD-US 2 238944574 238944574 single base substitution G A intron_variant STAD-US 2 238944574 238944574 single base substitution G A missense_variant R135Q 404G>A STAD-US 2 238944574 238944574 single base substitution G A missense_variant R143Q 428G>A STAD-US 2 238944574 238944574 single base substitution G A missense_variant R145Q 434G>A STAD-US 2 238944574 238944574 single base substitution G A missense_variant R167Q 500G>A THCA-US 2 238939226 238939226 single base substitution C T 3_prime_UTR_variant THCA-US 2 238939226 238939226 single base substitution C T exon_variant THCA-US 2 238939226 238939226 single base substitution C T intron_variant THCA-US 2 238939226 238939226 single base substitution C T missense_variant T104I 311C>T THCA-US 2 238939226 238939226 single base substitution C T missense_variant T106I 317C>T THCA-US 2 238939226 238939226 single base substitution C T missense_variant T118I 353C>T THCA-US 2 238939226 238939226 single base substitution C T missense_variant T128I 383C>T THCA-US 2 238939226 238939226 single base substitution C T missense_variant T139I 416C>T THCA-US 2 238939226 238939226 single base substitution C T missense_variant T96I 287C>T THCA-US 2 238939226 238939226 single base substitution C T upstream_gene_variant UCEC-US 2 238925174 238925174 single base substitution G T intron_variant UCEC-US 2 238925174 238925174 single base substitution G T splice_acceptor_variant UCEC-US 2 238934009 238934009 single base substitution G A 3_prime_UTR_variant UCEC-US 2 238934009 238934009 single base substitution G A exon_variant UCEC-US 2 238934009 238934009 single base substitution G A intron_variant UCEC-US 2 238934009 238934009 single base substitution G A synonymous_variant K103K 309G>A UCEC-US 2 238934009 238934009 single base substitution G A synonymous_variant K114K 342G>A UCEC-US 2 238934009 238934009 single base substitution G A synonymous_variant K71K 213G>A UCEC-US 2 238934009 238934009 single base substitution G A synonymous_variant K79K 237G>A UCEC-US 2 238934009 238934009 single base substitution G A synonymous_variant K81K 243G>A UCEC-US 2 238934009 238934009 single base substitution G A synonymous_variant K93K 279G>A UCEC-US 2 238949966 238949966 single base substitution G A 3_prime_UTR_variant UCEC-US 2 238949966 238949966 single base substitution G A downstream_gene_variant UCEC-US 2 238949966 238949966 single base substitution G A exon_variant UCEC-US 2 238949966 238949966 single base substitution G A missense_variant R150H 449G>A UCEC-US 2 238949966 238949966 single base substitution G A missense_variant R158H 473G>A UCEC-US 2 238949966 238949966 single base substitution G A missense_variant R160H 479G>A UCEC-US 2 238949966 238949966 single base substitution G A missense_variant R161H 482G>A UCEC-US 2 238949966 238949966 single base substitution G A missense_variant R182H 545G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A0LM-01 COSM1018503 c.309G>A p.K103K Substitution - coding silent 2:238025368-238025368 + LP6005935-DNA_A03 COSM5032633 c.29G>A p.R10H Substitution - Missense 2:237973136-237973136 + S13_post COSM5575057 c.455A>G p.N152S Substitution - Missense 2:238035888-238035888 + LUAD-YINHD COSM350603 c.282G>T p.V94V Substitution - coding silent 2:238016633-238016633 + S13_pre COSM5575057 c.455A>G p.N152S Substitution - Missense 2:238035888-238035888 + RK164_C01 COSM3702161 c.314G>C p.W105S Substitution - Missense 2:238025373-238025373 + 115 COSM5011048 c.198G>C p.Q66H Substitution - Missense 2:237994793-237994793 + HCT116 COSM3051938 c.187C>T p.H63Y Substitution - Missense 2:237994782-237994782 + TCGA-FS-A1Z4-06 COSM3579731 c.444+2T>C p.? Unknown 2:238032256-238032256 + TCGA-CG-5721-01 COSM4092718 c.224A>G p.Y75C Substitution - Missense 2:238016575-238016575 + TCGA-A7-A26G-01 COSM1482938 c.290A>C p.K97T Substitution - Missense 2:238025349-238025349 + SH-1537 COSM5017662 c.558delA p.? Unknown STC252 COSM5058771 c.264C>T p.P88P Substitution - coding silent 2:238016615-238016615 + HCC058T COSM5804244 c.426A>T p.G142G Substitution - coding silent 2:238032236-238032236 + HCC113T COSM5808425 c.71C>G p.S24C Substitution - Missense 2:237973178-237973178 + TCGA-AM-5820-01 COSM3758082 c.162G>A p.V54V Substitution - coding silent 2:237994757-237994757 + LC_S6 COSM1190730 c.156delT p.C52fs*1 Deletion - Frameshift 2:237994751-237994751 + TCGA-BR-8680-01 COSM3579730 c.417C>T p.V139V Substitution - coding silent 2:238032227-238032227 + TCGA-ET-A3BQ-01 COSM3372703 c.383C>T p.T128I Substitution - Missense 2:238030585-238030585 + TCGA-EE-A29Q-06 COSM3579727 c.73G>A p.D25N Substitution - Missense 2:237973180-237973180 + OSCC-GB_00530111 COSM4883366 c.265G>C p.D89H Substitution - Missense 2:238016616-238016616 + HCC041T COSM5809495 c.55A>G p.T19A Substitution - Missense 2:237973162-237973162 + RK006_C01 COSM1631921 c.265G>A p.D89N Substitution - Missense 2:238016616-238016616 + TCGA-EE-A29E-06 COSM3579729 c.394C>T p.P132S Substitution - Missense 2:238030596-238030596 + TCGA-GN-A26C-01 COSM3579730 c.417C>T p.V139V Substitution - coding silent 2:238032227-238032227 + TCGA-AD-5900-01 COSM1406680 c.53G>A p.R18Q Substitution - Missense 2:237973160-237973160 + TCGA-CG-4305-01 COSM4092719 c.500G>A p.R167Q Substitution - Missense 2:238035933-238035933 + TCGA-FW-A3R5-06 COSM3909956 c.466C>T p.P156S Substitution - Missense 2:238035899-238035899 + RK006_C1 COSM1631921 c.265G>A p.D89N Substitution - Missense 2:238016616-238016616 + LUAD-S00484 COSM343004 c.463G>A p.D155N Substitution - Missense 2:238035896-238035896 + pfg015T COSM1641875 c.108G>T p.L36F Substitution - Missense 2:237973215-237973215 + HCC155T COSM5809495 c.55A>G p.T19A Substitution - Missense 2:237973162-237973162 + TCGA-B7-5816-01 COSM4092716 c.50C>T p.S17F Substitution - Missense 2:237973157-237973157 + KM12 COSM3051940 c.250G>A p.E84K Substitution - Missense 2:238016601-238016601 + TCGA-EB-A3Y7-01 COSM3579728 c.262C>T p.P88S Substitution - Missense 2:238016613-238016613 + 2521259 COSM5889721 c.51C>T p.S17S Substitution - coding silent 2:237973158-237973158 + CSCC-55-T COSM4560600 c.84G>A p.R28R Substitution - coding silent 2:237973191-237973191 + TCGA-BG-A0MQ-01 COSM1018504 c.545G>A p.R182H Substitution - Missense 2:238041325-238041325 + TCGA-EE-A2MJ-06 COSM3579726 c.40C>T p.L14F Substitution - Missense 2:237973147-237973147 + 587376 COSM1231539 c.458T>G p.F153C Substitution - Missense 2:238035891-238035891 + HCC2998 COSM3051942 c.457T>G p.F153V Substitution - Missense 2:238035890-238035890 + ATL043 COSM5708147 c.83G>A p.R28Q Substitution - Missense 2:237973190-237973190 + RK164_C01 COSM3702162 c.315G>T p.W105C Substitution - Missense 2:238025374-238025374 + TCGA-BR-8360-01 COSM4092717 c.69G>A p.A23A Substitution - coding silent 2:237973176-237973176 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.471785 2q37.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K97T c.290A>C 2 238933990 BRCA C T Missense p.L14F c.40C>T 2 238881789 CM C T Missense p.S17F c.50C>T 2 238881799 STAD C T Missense p.T128I c.383C>T 2 238939226 THCA C T Synonymous p.V139V c.417C>T 2 238940868 CM G A Missense p.D25N c.73G>A 2 238881822 CM G A Missense p.D89N c.265G>A 2 238925258 HC G A Missense p.R167Q c.500G>A 2 238944574 STAD G A Missense p.R182H c.545G>A 2 238949966 UCEC G T Missense p.L36F c.108G>T 2 238881857 STAD T C SpliceDonorSNV . c.444+2T>C 2 238940897 CM