Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 8 145158073 145158073 single base substitution T A upstream_gene_variant BLCA-CN 8 145161364 145161364 single base substitution A G upstream_gene_variant BLCA-US 8 145161270 145161270 single base substitution C A upstream_gene_variant BOCA-FR 8 145163035 145163035 single base substitution G A exon_variant BOCA-FR 8 145163035 145163035 single base substitution G A synonymous_variant P62P 186G>A BOCA-FR 8 145163035 145163035 single base substitution G A upstream_gene_variant BRCA-EU 8 145157993 145157993 deletion of <=200bp C - upstream_gene_variant BRCA-EU 8 145157997 145157997 single base substitution C A upstream_gene_variant BRCA-EU 8 145158573 145158573 single base substitution C G upstream_gene_variant BRCA-EU 8 145158619 145158619 single base substitution G A upstream_gene_variant BRCA-EU 8 145159104 145159104 single base substitution C A upstream_gene_variant BRCA-EU 8 145160082 145160082 single base substitution C G upstream_gene_variant BRCA-EU 8 145161762 145161762 single base substitution G C upstream_gene_variant BRCA-EU 8 145162939 145162939 single base substitution G A intron_variant BRCA-EU 8 145162939 145162939 single base substitution G A upstream_gene_variant BRCA-EU 8 145163416 145163416 single base substitution G T exon_variant BRCA-EU 8 145163416 145163416 single base substitution G T synonymous_variant R149R 447G>T BRCA-EU 8 145163416 145163416 single base substitution G T upstream_gene_variant BRCA-EU 8 145163682 145163682 single base substitution C A exon_variant BRCA-EU 8 145163682 145163682 single base substitution C A missense_variant A238E 713C>A BRCA-EU 8 145163682 145163682 single base substitution C A upstream_gene_variant BRCA-EU 8 145163786 145163786 single base substitution G A exon_variant BRCA-EU 8 145163786 145163786 single base substitution G A missense_variant V273M 817G>A BRCA-EU 8 145163786 145163786 single base substitution G A upstream_gene_variant BRCA-EU 8 145164614 145164614 single base substitution G A exon_variant BRCA-EU 8 145164614 145164614 single base substitution G A synonymous_variant S459S 1377G>A BRCA-EU 8 145164614 145164614 single base substitution G A upstream_gene_variant BRCA-EU 8 145165448 145165448 single base substitution G A exon_variant BRCA-EU 8 145165448 145165448 single base substitution G A missense_variant R683Q 2048G>A BRCA-EU 8 145165448 145165448 single base substitution G A upstream_gene_variant BRCA-EU 8 145165952 145165952 single base substitution G T exon_variant BRCA-EU 8 145165952 145165952 single base substitution G T intron_variant BRCA-EU 8 145165952 145165952 single base substitution G T upstream_gene_variant BRCA-EU 8 145166212 145166212 single base substitution G C downstream_gene_variant BRCA-EU 8 145166212 145166212 single base substitution G C exon_variant BRCA-EU 8 145166212 145166212 single base substitution G C intron_variant BRCA-EU 8 145166212 145166212 single base substitution G C upstream_gene_variant BRCA-EU 8 145166243 145166243 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 145166243 145166243 single base substitution G A downstream_gene_variant BRCA-EU 8 145166243 145166243 single base substitution G A exon_variant BRCA-EU 8 145166243 145166243 single base substitution G A intron_variant BRCA-EU 8 145166243 145166243 single base substitution G A upstream_gene_variant BRCA-EU 8 145166951 145166951 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 145166951 145166951 single base substitution G A downstream_gene_variant BRCA-EU 8 145166951 145166951 single base substitution G A exon_variant BRCA-EU 8 145166951 145166951 single base substitution G A synonymous_variant Q933Q 2799G>A BRCA-EU 8 145166951 145166951 single base substitution G A upstream_gene_variant BRCA-EU 8 145168276 145168276 single base substitution T C downstream_gene_variant BRCA-EU 8 145168276 145168276 single base substitution T C exon_variant BRCA-EU 8 145168276 145168276 single base substitution T C intron_variant BRCA-EU 8 145168511 145168511 single base substitution C T downstream_gene_variant BRCA-EU 8 145168511 145168511 single base substitution C T exon_variant BRCA-EU 8 145168511 145168511 single base substitution C T intron_variant BRCA-EU 8 145170349 145170349 single base substitution C T 3_prime_UTR_variant BRCA-EU 8 145170349 145170349 single base substitution C T downstream_gene_variant BRCA-EU 8 145170349 145170349 single base substitution C T exon_variant BRCA-EU 8 145170349 145170349 single base substitution C T stop_gained Q1395* 4183C>T BRCA-EU 8 145170535 145170535 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 145170535 145170535 single base substitution G A downstream_gene_variant BRCA-EU 8 145170535 145170535 single base substitution G A exon_variant BRCA-EU 8 145170535 145170535 single base substitution G A missense_variant G1457R 4369G>A BRCA-EU 8 145170885 145170885 single base substitution G C 3_prime_UTR_variant BRCA-EU 8 145170885 145170885 single base substitution G C downstream_gene_variant BRCA-EU 8 145170885 145170885 single base substitution G C exon_variant BRCA-EU 8 145170885 145170885 single base substitution G C missense_variant Q1545H 4635G>C BRCA-EU 8 145171747 145171747 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 8 145171747 145171747 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 145171804 145171804 single base substitution C T 3_prime_UTR_variant BRCA-EU 8 145171804 145171804 single base substitution C T downstream_gene_variant BRCA-EU 8 145171810 145171810 single base substitution C T 3_prime_UTR_variant BRCA-EU 8 145171810 145171810 single base substitution C T downstream_gene_variant BRCA-EU 8 145172222 145172222 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 145172222 145172222 single base substitution G A downstream_gene_variant BRCA-EU 8 145173073 145173073 single base substitution G C 3_prime_UTR_variant BRCA-EU 8 145173073 145173073 single base substitution G C downstream_gene_variant BRCA-EU 8 145173504 145173504 single base substitution T C downstream_gene_variant BRCA-EU 8 145173718 145173718 single base substitution A G downstream_gene_variant BRCA-EU 8 145174470 145174470 single base substitution C T downstream_gene_variant BRCA-EU 8 145175315 145175315 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 145178208 145178208 single base substitution C T downstream_gene_variant BRCA-FR 8 145158573 145158573 single base substitution C G upstream_gene_variant BRCA-FR 8 145164081 145164081 single base substitution G C splice_region_variant BRCA-FR 8 145164081 145164081 single base substitution G C upstream_gene_variant BRCA-FR 8 145168511 145168511 single base substitution C T downstream_gene_variant BRCA-FR 8 145168511 145168511 single base substitution C T exon_variant BRCA-FR 8 145168511 145168511 single base substitution C T intron_variant BRCA-KR 8 145165591 145165591 single base substitution C G exon_variant BRCA-KR 8 145165591 145165591 single base substitution C G missense_variant S707C 2120C>G BRCA-KR 8 145165591 145165591 single base substitution C G upstream_gene_variant BRCA-KR 8 145167022 145167022 single base substitution G A 3_prime_UTR_variant BRCA-KR 8 145167022 145167022 single base substitution G A downstream_gene_variant BRCA-KR 8 145167022 145167022 single base substitution G A exon_variant BRCA-KR 8 145167022 145167022 single base substitution G A missense_variant R957H 2870G>A BRCA-KR 8 145167022 145167022 single base substitution G A upstream_gene_variant BRCA-US 8 145160613 145160613 single base substitution T C upstream_gene_variant BRCA-US 8 145161369 145161369 single base substitution T G upstream_gene_variant BRCA-US 8 145161923 145161923 single base substitution T G upstream_gene_variant BRCA-US 8 145162933 145162933 single base substitution G T intron_variant BRCA-US 8 145162933 145162933 single base substitution G T upstream_gene_variant BTCA-JP 8 145158139 145158139 single base substitution G T upstream_gene_variant BTCA-JP 8 145160567 145160567 single base substitution G A upstream_gene_variant BTCA-JP 8 145160716 145160716 single base substitution G A upstream_gene_variant BTCA-JP 8 145162571 145162571 single base substitution A G upstream_gene_variant BTCA-JP 8 145163519 145163519 single base substitution C T exon_variant BTCA-JP 8 145163519 145163519 single base substitution C T synonymous_variant L184L 550C>T BTCA-JP 8 145163519 145163519 single base substitution C T upstream_gene_variant BTCA-JP 8 145164265 145164265 single base substitution C T exon_variant BTCA-JP 8 145164265 145164265 single base substitution C T missense_variant P343L 1028C>T BTCA-JP 8 145164265 145164265 single base substitution C T upstream_gene_variant BTCA-JP 8 145164716 145164716 single base substitution C A exon_variant BTCA-JP 8 145164716 145164716 single base substitution C A synonymous_variant T493T 1479C>A BTCA-JP 8 145164716 145164716 single base substitution C A upstream_gene_variant BTCA-JP 8 145164945 145164945 single base substitution C T exon_variant BTCA-JP 8 145164945 145164945 single base substitution C T intron_variant BTCA-JP 8 145164945 145164945 single base substitution C T splice_region_variant BTCA-JP 8 145164945 145164945 single base substitution C T upstream_gene_variant BTCA-JP 8 145164992 145164992 single base substitution G A exon_variant BTCA-JP 8 145164992 145164992 single base substitution G A intron_variant BTCA-JP 8 145164992 145164992 single base substitution G A upstream_gene_variant BTCA-JP 8 145166669 145166669 single base substitution C T 3_prime_UTR_variant BTCA-JP 8 145166669 145166669 single base substitution C T downstream_gene_variant BTCA-JP 8 145166669 145166669 single base substitution C T exon_variant BTCA-JP 8 145166669 145166669 single base substitution C T synonymous_variant Y874Y 2622C>T BTCA-JP 8 145166669 145166669 single base substitution C T upstream_gene_variant BTCA-JP 8 145169003 145169003 single base substitution T C 3_prime_UTR_variant BTCA-JP 8 145169003 145169003 single base substitution T C downstream_gene_variant BTCA-JP 8 145169003 145169003 single base substitution T C exon_variant BTCA-JP 8 145169003 145169003 single base substitution T C missense_variant F1178L 3532T>C BTCA-JP 8 145169824 145169824 single base substitution G A downstream_gene_variant BTCA-JP 8 145169824 145169824 single base substitution G A intron_variant BTCA-JP 8 145170766 145170766 single base substitution G A downstream_gene_variant BTCA-JP 8 145170766 145170766 single base substitution G A splice_region_variant CESC-US 8 145158082 145158082 single base substitution C T upstream_gene_variant CESC-US 8 145160643 145160643 single base substitution G A upstream_gene_variant CESC-US 8 145160803 145160803 single base substitution G A upstream_gene_variant CESC-US 8 145163617 145163617 single base substitution G T exon_variant CESC-US 8 145163617 145163617 single base substitution G T missense_variant M216I 648G>T CESC-US 8 145163617 145163617 single base substitution G T upstream_gene_variant CESC-US 8 145163767 145163767 single base substitution C T exon_variant CESC-US 8 145163767 145163767 single base substitution C T synonymous_variant F266F 798C>T CESC-US 8 145163767 145163767 single base substitution C T upstream_gene_variant CESC-US 8 145164292 145164292 single base substitution C T exon_variant CESC-US 8 145164292 145164292 single base substitution C T missense_variant S352L 1055C>T CESC-US 8 145164292 145164292 single base substitution C T upstream_gene_variant CESC-US 8 145166328 145166328 single base substitution G T 3_prime_UTR_variant CESC-US 8 145166328 145166328 single base substitution G T downstream_gene_variant CESC-US 8 145166328 145166328 single base substitution G T exon_variant CESC-US 8 145166328 145166328 single base substitution G T splice_acceptor_variant CESC-US 8 145166328 145166328 single base substitution G T upstream_gene_variant CLLE-ES 8 145167200 145167200 single base substitution G A 3_prime_UTR_variant CLLE-ES 8 145167200 145167200 single base substitution G A downstream_gene_variant CLLE-ES 8 145167200 145167200 single base substitution G A exon_variant CLLE-ES 8 145167200 145167200 single base substitution G A intron_variant CLLE-ES 8 145167200 145167200 single base substitution G A missense_variant R990Q 2969G>A CLLE-ES 8 145167200 145167200 single base substitution G A upstream_gene_variant COAD-US 8 145158503 145158503 single base substitution G T upstream_gene_variant COAD-US 8 145161278 145161278 single base substitution A G upstream_gene_variant COAD-US 8 145161286 145161286 single base substitution G A upstream_gene_variant COCA-CN 8 145158018 145158018 single base substitution G A upstream_gene_variant COCA-CN 8 145160980 145160980 single base substitution C T upstream_gene_variant COCA-CN 8 145162087 145162087 single base substitution G A upstream_gene_variant COCA-CN 8 145163145 145163145 single base substitution G A intron_variant COCA-CN 8 145163145 145163145 single base substitution G A upstream_gene_variant COCA-CN 8 145164008 145164008 single base substitution G A exon_variant COCA-CN 8 145164008 145164008 single base substitution G A missense_variant R312Q 935G>A COCA-CN 8 145164008 145164008 single base substitution G A upstream_gene_variant COCA-CN 8 145164060 145164060 single base substitution C A exon_variant COCA-CN 8 145164060 145164060 single base substitution C A missense_variant F329L 987C>A COCA-CN 8 145164060 145164060 single base substitution C A upstream_gene_variant COCA-CN 8 145164591 145164591 single base substitution G A exon_variant COCA-CN 8 145164591 145164591 single base substitution G A missense_variant D452N 1354G>A COCA-CN 8 145164591 145164591 single base substitution G A upstream_gene_variant COCA-CN 8 145165094 145165094 single base substitution C T exon_variant COCA-CN 8 145165094 145165094 single base substitution C T missense_variant T593M 1778C>T COCA-CN 8 145165094 145165094 single base substitution C T upstream_gene_variant COCA-CN 8 145165369 145165369 single base substitution G A exon_variant COCA-CN 8 145165369 145165369 single base substitution G A missense_variant A657T 1969G>A COCA-CN 8 145165369 145165369 single base substitution G A upstream_gene_variant COCA-CN 8 145165448 145165448 single base substitution G A exon_variant COCA-CN 8 145165448 145165448 single base substitution G A missense_variant R683Q 2048G>A COCA-CN 8 145165448 145165448 single base substitution G A upstream_gene_variant COCA-CN 8 145165641 145165641 single base substitution C T exon_variant COCA-CN 8 145165641 145165641 single base substitution C T missense_variant R724W 2170C>T COCA-CN 8 145165641 145165641 single base substitution C T splice_region_variant COCA-CN 8 145165641 145165641 single base substitution C T upstream_gene_variant COCA-CN 8 145167209 145167209 single base substitution C T 3_prime_UTR_variant COCA-CN 8 145167209 145167209 single base substitution C T downstream_gene_variant COCA-CN 8 145167209 145167209 single base substitution C T exon_variant COCA-CN 8 145167209 145167209 single base substitution C T intron_variant COCA-CN 8 145167209 145167209 single base substitution C T missense_variant T993M 2978C>T COCA-CN 8 145167209 145167209 single base substitution C T upstream_gene_variant COCA-CN 8 145168256 145168256 single base substitution G A downstream_gene_variant COCA-CN 8 145168256 145168256 single base substitution G A exon_variant COCA-CN 8 145168256 145168256 single base substitution G A intron_variant COCA-CN 8 145168657 145168657 single base substitution G T 3_prime_UTR_variant COCA-CN 8 145168657 145168657 single base substitution G T downstream_gene_variant COCA-CN 8 145168657 145168657 single base substitution G T exon_variant COCA-CN 8 145168657 145168657 single base substitution G T missense_variant G1094V 3281G>T COCA-CN 8 145169477 145169477 single base substitution C T 3_prime_UTR_variant COCA-CN 8 145169477 145169477 single base substitution C T downstream_gene_variant COCA-CN 8 145169477 145169477 single base substitution C T exon_variant COCA-CN 8 145169477 145169477 single base substitution C T synonymous_variant F1271F 3813C>T COCA-CN 8 145171049 145171049 single base substitution G A 3_prime_UTR_variant COCA-CN 8 145171049 145171049 single base substitution G A downstream_gene_variant COCA-CN 8 145171049 145171049 single base substitution G A exon_variant COCA-CN 8 145171049 145171049 single base substitution G A synonymous_variant T1574T 4722G>A COCA-CN 8 145177314 145177314 single base substitution G A downstream_gene_variant ESAD-UK 8 145158075 145158075 single base substitution G C upstream_gene_variant ESAD-UK 8 145158534 145158534 single base substitution C T upstream_gene_variant ESAD-UK 8 145159187 145159187 single base substitution C G upstream_gene_variant ESAD-UK 8 145161323 145161323 single base substitution C T upstream_gene_variant ESAD-UK 8 145161425 145161425 single base substitution G A upstream_gene_variant ESAD-UK 8 145162398 145162398 single base substitution C G upstream_gene_variant ESAD-UK 8 145163119 145163119 single base substitution G A intron_variant ESAD-UK 8 145163119 145163119 single base substitution G A upstream_gene_variant ESAD-UK 8 145164123 145164123 single base substitution C T intron_variant ESAD-UK 8 145164123 145164123 single base substitution C T upstream_gene_variant ESAD-UK 8 145164353 145164353 single base substitution G A exon_variant ESAD-UK 8 145164353 145164353 single base substitution G A synonymous_variant A372A 1116G>A ESAD-UK 8 145164353 145164353 single base substitution G A upstream_gene_variant ESAD-UK 8 145164738 145164738 single base substitution G A exon_variant ESAD-UK 8 145164738 145164738 single base substitution G A missense_variant A501T 1501G>A ESAD-UK 8 145164738 145164738 single base substitution G A upstream_gene_variant ESAD-UK 8 145165176 145165176 single base substitution C T exon_variant ESAD-UK 8 145165176 145165176 single base substitution C T intron_variant ESAD-UK 8 145165176 145165176 single base substitution C T upstream_gene_variant ESAD-UK 8 145166342 145166342 single base substitution C G 3_prime_UTR_variant ESAD-UK 8 145166342 145166342 single base substitution C G downstream_gene_variant ESAD-UK 8 145166342 145166342 single base substitution C G exon_variant ESAD-UK 8 145166342 145166342 single base substitution C G missense_variant L814V 2440C>G ESAD-UK 8 145166342 145166342 single base substitution C G upstream_gene_variant ESAD-UK 8 145167235 145167235 single base substitution T A 3_prime_UTR_variant ESAD-UK 8 145167235 145167235 single base substitution T A downstream_gene_variant ESAD-UK 8 145167235 145167235 single base substitution T A exon_variant ESAD-UK 8 145167235 145167235 single base substitution T A intron_variant ESAD-UK 8 145167235 145167235 single base substitution T A missense_variant S1002T 3004T>A ESAD-UK 8 145167235 145167235 single base substitution T A upstream_gene_variant ESAD-UK 8 145168914 145168914 single base substitution G A 3_prime_UTR_variant ESAD-UK 8 145168914 145168914 single base substitution G A downstream_gene_variant ESAD-UK 8 145168914 145168914 single base substitution G A exon_variant ESAD-UK 8 145168914 145168914 single base substitution G A missense_variant R1148H 3443G>A ESAD-UK 8 145169392 145169392 single base substitution C A downstream_gene_variant ESAD-UK 8 145169392 145169392 single base substitution C A exon_variant ESAD-UK 8 145169392 145169392 single base substitution C A intron_variant ESAD-UK 8 145171782 145171782 single base substitution C T 3_prime_UTR_variant ESAD-UK 8 145171782 145171782 single base substitution C T downstream_gene_variant ESAD-UK 8 145172271 145172271 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 8 145172271 145172271 insertion of <=200bp - A downstream_gene_variant ESAD-UK 8 145172271 145172271 single base substitution A T 3_prime_UTR_variant ESAD-UK 8 145172271 145172271 single base substitution A T downstream_gene_variant ESAD-UK 8 145176079 145176079 single base substitution C T downstream_gene_variant ESAD-UK 8 145176630 145176630 single base substitution G A downstream_gene_variant ESCA-CN 8 145161417 145161417 deletion of <=200bp C - upstream_gene_variant ESCA-CN 8 145161478 145161478 single base substitution C G upstream_gene_variant KIRC-US 8 145169270 145169270 deletion of <=200bp C - 3_prime_UTR_variant KIRC-US 8 145169270 145169270 deletion of <=200bp C - downstream_gene_variant KIRC-US 8 145169270 145169270 deletion of <=200bp C - exon_variant KIRC-US 8 145169270 145169270 deletion of <=200bp C - frameshift_variant I1228 LAML-KR 8 145173841 145173841 single base substitution T C downstream_gene_variant LICA-CN 8 145160815 145160815 single base substitution A T upstream_gene_variant LICA-FR 8 145158463 145158463 single base substitution G C upstream_gene_variant LICA-FR 8 145160839 145160839 single base substitution G A upstream_gene_variant LICA-FR 8 145161539 145161539 single base substitution G A upstream_gene_variant LICA-FR 8 145166899 145166899 single base substitution G A 3_prime_UTR_variant LICA-FR 8 145166899 145166899 single base substitution G A downstream_gene_variant LICA-FR 8 145166899 145166899 single base substitution G A exon_variant LICA-FR 8 145166899 145166899 single base substitution G A missense_variant R916Q 2747G>A LICA-FR 8 145166899 145166899 single base substitution G A upstream_gene_variant LICA-FR 8 145175835 145175836 deletion of <=200bp AA - downstream_gene_variant LINC-JP 8 145161712 145161712 single base substitution A G upstream_gene_variant LINC-JP 8 145162036 145162036 single base substitution T C upstream_gene_variant LINC-JP 8 145162972 145162972 single base substitution C G exon_variant LINC-JP 8 145162972 145162972 single base substitution C G missense_variant F41L 123C>G LINC-JP 8 145162972 145162972 single base substitution C G upstream_gene_variant LINC-JP 8 145163398 145163398 single base substitution G A exon_variant LINC-JP 8 145163398 145163398 single base substitution G A synonymous_variant T143T 429G>A LINC-JP 8 145163398 145163398 single base substitution G A upstream_gene_variant LINC-JP 8 145164442 145164442 single base substitution G C exon_variant LINC-JP 8 145164442 145164442 single base substitution G C missense_variant C402S 1205G>C LINC-JP 8 145164442 145164442 single base substitution G C upstream_gene_variant LINC-JP 8 145165310 145165310 single base substitution G C exon_variant LINC-JP 8 145165310 145165310 single base substitution G C missense_variant R637P 1910G>C LINC-JP 8 145165310 145165310 single base substitution G C upstream_gene_variant LINC-JP 8 145168499 145168499 deletion of <=200bp G - downstream_gene_variant LINC-JP 8 145168499 145168499 deletion of <=200bp G - exon_variant LINC-JP 8 145168499 145168499 deletion of <=200bp G - intron_variant LINC-JP 8 145176477 145176477 single base substitution T G downstream_gene_variant LIRI-JP 8 145158006 145158006 single base substitution T A upstream_gene_variant LIRI-JP 8 145160723 145160723 single base substitution A C upstream_gene_variant LIRI-JP 8 145161671 145161671 single base substitution A G upstream_gene_variant LIRI-JP 8 145164445 145164445 single base substitution C T exon_variant LIRI-JP 8 145164445 145164445 single base substitution C T missense_variant A403V 1208C>T LIRI-JP 8 145164445 145164445 single base substitution C T upstream_gene_variant LIRI-JP 8 145167740 145167740 single base substitution G T downstream_gene_variant LIRI-JP 8 145167740 145167740 single base substitution G T exon_variant LIRI-JP 8 145167740 145167740 single base substitution G T intron_variant LIRI-JP 8 145169567 145169567 single base substitution C A 3_prime_UTR_variant LIRI-JP 8 145169567 145169567 single base substitution C A downstream_gene_variant LIRI-JP 8 145169567 145169567 single base substitution C A exon_variant LIRI-JP 8 145169567 145169567 single base substitution C A synonymous_variant P1301P 3903C>A LIRI-JP 8 145170750 145170750 single base substitution G A 3_prime_UTR_variant LIRI-JP 8 145170750 145170750 single base substitution G A downstream_gene_variant LIRI-JP 8 145170750 145170750 single base substitution G A exon_variant LIRI-JP 8 145170750 145170750 single base substitution G A synonymous_variant P1528P 4584G>A LIRI-JP 8 145171740 145171740 single base substitution T A 3_prime_UTR_variant LIRI-JP 8 145171740 145171740 single base substitution T A downstream_gene_variant LIRI-JP 8 145176150 145176150 single base substitution A G downstream_gene_variant LIRI-JP 8 145177322 145177322 single base substitution G T downstream_gene_variant LIRI-JP 8 145177323 145177323 single base substitution C T downstream_gene_variant LUSC-KR 8 145164867 145164867 single base substitution G A exon_variant LUSC-KR 8 145164867 145164867 single base substitution G A missense_variant E544K 1630G>A LUSC-KR 8 145164867 145164867 single base substitution G A upstream_gene_variant LUSC-KR 8 145165882 145165882 single base substitution A G exon_variant LUSC-KR 8 145165882 145165882 single base substitution A G missense_variant T763A 2287A>G LUSC-KR 8 145165882 145165882 single base substitution A G upstream_gene_variant LUSC-KR 8 145166134 145166134 single base substitution C G downstream_gene_variant LUSC-KR 8 145166134 145166134 single base substitution C G exon_variant LUSC-KR 8 145166134 145166134 single base substitution C G intron_variant LUSC-KR 8 145166134 145166134 single base substitution C G upstream_gene_variant LUSC-KR 8 145169689 145169689 single base substitution C T 3_prime_UTR_variant LUSC-KR 8 145169689 145169689 single base substitution C T downstream_gene_variant LUSC-KR 8 145169689 145169689 single base substitution C T exon_variant LUSC-KR 8 145169689 145169689 single base substitution C T stop_gained Q1318* 3952C>T LUSC-KR 8 145170263 145170263 single base substitution C T 3_prime_UTR_variant LUSC-KR 8 145170263 145170263 single base substitution C T downstream_gene_variant LUSC-KR 8 145170263 145170263 single base substitution C T exon_variant LUSC-KR 8 145170263 145170263 single base substitution C T missense_variant S1366L 4097C>T LUSC-KR 8 145172707 145172707 single base substitution G T 3_prime_UTR_variant LUSC-KR 8 145172707 145172707 single base substitution G T downstream_gene_variant LUSC-KR 8 145174395 145174395 single base substitution G T downstream_gene_variant LUSC-KR 8 145176687 145176687 single base substitution C G downstream_gene_variant LUSC-US 8 145160625 145160625 single base substitution C T upstream_gene_variant MALY-DE 8 145161416 145161416 single base substitution G C upstream_gene_variant MALY-DE 8 145166186 145166186 single base substitution C T downstream_gene_variant MALY-DE 8 145166186 145166186 single base substitution C T exon_variant MALY-DE 8 145166186 145166186 single base substitution C T intron_variant MALY-DE 8 145166186 145166186 single base substitution C T upstream_gene_variant MALY-DE 8 145169195 145169195 single base substitution G A 3_prime_UTR_variant MALY-DE 8 145169195 145169195 single base substitution G A downstream_gene_variant MALY-DE 8 145169195 145169195 single base substitution G A exon_variant MALY-DE 8 145169195 145169195 single base substitution G A synonymous_variant A1203A 3609G>A MELA-AU 8 145158181 145158181 single base substitution G A upstream_gene_variant MELA-AU 8 145158739 145158739 single base substitution G A upstream_gene_variant MELA-AU 8 145159206 145159206 single base substitution G A upstream_gene_variant MELA-AU 8 145159231 145159231 single base substitution G A upstream_gene_variant MELA-AU 8 145160028 145160028 single base substitution C T upstream_gene_variant MELA-AU 8 145160163 145160163 single base substitution C T upstream_gene_variant MELA-AU 8 145161630 145161631 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 145161881 145161881 single base substitution C T upstream_gene_variant MELA-AU 8 145161902 145161902 single base substitution C T upstream_gene_variant MELA-AU 8 145162048 145162048 single base substitution C T upstream_gene_variant MELA-AU 8 145162617 145162617 single base substitution C T upstream_gene_variant MELA-AU 8 145162864 145162865 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 145162864 145162865 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 145162979 145162979 single base substitution C T exon_variant MELA-AU 8 145162979 145162979 single base substitution C T missense_variant P44S 130C>T MELA-AU 8 145162979 145162979 single base substitution C T upstream_gene_variant MELA-AU 8 145163462 145163462 single base substitution C T exon_variant MELA-AU 8 145163462 145163462 single base substitution C T missense_variant R165C 493C>T MELA-AU 8 145163462 145163462 single base substitution C T upstream_gene_variant MELA-AU 8 145163936 145163936 single base substitution C T intron_variant MELA-AU 8 145163936 145163936 single base substitution C T upstream_gene_variant MELA-AU 8 145163995 145163995 single base substitution G A exon_variant MELA-AU 8 145163995 145163995 single base substitution G A missense_variant V308M 922G>A MELA-AU 8 145163995 145163995 single base substitution G A upstream_gene_variant MELA-AU 8 145164097 145164097 single base substitution G A intron_variant MELA-AU 8 145164097 145164097 single base substitution G A upstream_gene_variant MELA-AU 8 145164399 145164399 single base substitution C T exon_variant MELA-AU 8 145164399 145164399 single base substitution C T synonymous_variant L388L 1162C>T MELA-AU 8 145164399 145164399 single base substitution C T upstream_gene_variant MELA-AU 8 145164863 145164863 single base substitution C T exon_variant MELA-AU 8 145164863 145164863 single base substitution C T synonymous_variant S542S 1626C>T MELA-AU 8 145164863 145164863 single base substitution C T upstream_gene_variant MELA-AU 8 145165108 145165108 single base substitution C T exon_variant MELA-AU 8 145165108 145165108 single base substitution C T missense_variant P598S 1792C>T MELA-AU 8 145165108 145165108 single base substitution C T upstream_gene_variant MELA-AU 8 145165172 145165172 single base substitution C T exon_variant MELA-AU 8 145165172 145165172 single base substitution C T intron_variant MELA-AU 8 145165172 145165172 single base substitution C T upstream_gene_variant MELA-AU 8 145165293 145165293 single base substitution G A exon_variant MELA-AU 8 145165293 145165293 single base substitution G A synonymous_variant E631E 1893G>A MELA-AU 8 145165293 145165293 single base substitution G A upstream_gene_variant MELA-AU 8 145165384 145165384 single base substitution C T exon_variant MELA-AU 8 145165384 145165384 single base substitution C T missense_variant P662S 1984C>T MELA-AU 8 145165384 145165384 single base substitution C T upstream_gene_variant MELA-AU 8 145165683 145165683 single base substitution G A exon_variant MELA-AU 8 145165683 145165683 single base substitution G A intron_variant MELA-AU 8 145165683 145165683 single base substitution G A upstream_gene_variant MELA-AU 8 145165694 145165694 single base substitution G A exon_variant MELA-AU 8 145165694 145165694 single base substitution G A intron_variant MELA-AU 8 145165694 145165694 single base substitution G A upstream_gene_variant MELA-AU 8 145166201 145166201 single base substitution C T downstream_gene_variant MELA-AU 8 145166201 145166201 single base substitution C T exon_variant MELA-AU 8 145166201 145166201 single base substitution C T intron_variant MELA-AU 8 145166201 145166201 single base substitution C T upstream_gene_variant MELA-AU 8 145166398 145166398 single base substitution G A downstream_gene_variant MELA-AU 8 145166398 145166398 single base substitution G A exon_variant MELA-AU 8 145166398 145166398 single base substitution G A intron_variant MELA-AU 8 145166398 145166398 single base substitution G A upstream_gene_variant MELA-AU 8 145166421 145166422 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 145166421 145166422 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 8 145166421 145166422 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 145166421 145166422 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 145166517 145166517 single base substitution C T downstream_gene_variant MELA-AU 8 145166517 145166517 single base substitution C T exon_variant MELA-AU 8 145166517 145166517 single base substitution C T intron_variant MELA-AU 8 145166517 145166517 single base substitution C T upstream_gene_variant MELA-AU 8 145166701 145166701 single base substitution C T downstream_gene_variant MELA-AU 8 145166701 145166701 single base substitution C T intron_variant MELA-AU 8 145166701 145166701 single base substitution C T upstream_gene_variant MELA-AU 8 145166854 145166855 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 8 145166854 145166855 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 145166854 145166855 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 8 145166854 145166855 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant T901I 2702CC>TT MELA-AU 8 145166854 145166855 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 145167494 145167494 single base substitution C T downstream_gene_variant MELA-AU 8 145167494 145167494 single base substitution C T exon_variant MELA-AU 8 145167494 145167494 single base substitution C T intron_variant MELA-AU 8 145167700 145167700 single base substitution C T downstream_gene_variant MELA-AU 8 145167700 145167700 single base substitution C T exon_variant MELA-AU 8 145167700 145167700 single base substitution C T intron_variant MELA-AU 8 145167743 145167743 single base substitution G A downstream_gene_variant MELA-AU 8 145167743 145167743 single base substitution G A exon_variant MELA-AU 8 145167743 145167743 single base substitution G A intron_variant MELA-AU 8 145167849 145167849 single base substitution C T downstream_gene_variant MELA-AU 8 145167849 145167849 single base substitution C T exon_variant MELA-AU 8 145167849 145167849 single base substitution C T intron_variant MELA-AU 8 145168034 145168034 single base substitution C T downstream_gene_variant MELA-AU 8 145168034 145168034 single base substitution C T exon_variant MELA-AU 8 145168034 145168034 single base substitution C T intron_variant MELA-AU 8 145168323 145168323 single base substitution C T downstream_gene_variant MELA-AU 8 145168323 145168323 single base substitution C T exon_variant MELA-AU 8 145168323 145168323 single base substitution C T intron_variant MELA-AU 8 145168386 145168386 single base substitution C T 3_prime_UTR_variant MELA-AU 8 145168386 145168386 single base substitution C T downstream_gene_variant MELA-AU 8 145168386 145168386 single base substitution C T exon_variant MELA-AU 8 145168386 145168386 single base substitution C T intron_variant MELA-AU 8 145168386 145168386 single base substitution C T missense_variant S1050F 3149C>T MELA-AU 8 145168509 145168509 single base substitution G A downstream_gene_variant MELA-AU 8 145168509 145168509 single base substitution G A exon_variant MELA-AU 8 145168509 145168509 single base substitution G A intron_variant MELA-AU 8 145168559 145168559 single base substitution G A downstream_gene_variant MELA-AU 8 145168559 145168559 single base substitution G A exon_variant MELA-AU 8 145168559 145168559 single base substitution G A splice_acceptor_variant MELA-AU 8 145168674 145168674 single base substitution G A 3_prime_UTR_variant MELA-AU 8 145168674 145168674 single base substitution G A downstream_gene_variant MELA-AU 8 145168674 145168674 single base substitution G A exon_variant MELA-AU 8 145168674 145168674 single base substitution G A missense_variant D1100N 3298G>A MELA-AU 8 145168802 145168802 single base substitution G A downstream_gene_variant MELA-AU 8 145168802 145168802 single base substitution G A intron_variant MELA-AU 8 145169201 145169201 single base substitution G A 3_prime_UTR_variant MELA-AU 8 145169201 145169201 single base substitution G A downstream_gene_variant MELA-AU 8 145169201 145169201 single base substitution G A exon_variant MELA-AU 8 145169201 145169201 single base substitution G A synonymous_variant T1205T 3615G>A MELA-AU 8 145169255 145169255 single base substitution C T 3_prime_UTR_variant MELA-AU 8 145169255 145169255 single base substitution C T downstream_gene_variant MELA-AU 8 145169255 145169255 single base substitution C T exon_variant MELA-AU 8 145169255 145169255 single base substitution C T synonymous_variant V1223V 3669C>T MELA-AU 8 145169555 145169556 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 8 145169555 145169556 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 145169555 145169556 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 8 145169555 145169556 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant FL1297FF MELA-AU 8 145169915 145169915 single base substitution C T downstream_gene_variant MELA-AU 8 145169915 145169915 single base substitution C T intron_variant MELA-AU 8 145169974 145169974 single base substitution C T downstream_gene_variant MELA-AU 8 145169974 145169974 single base substitution C T intron_variant MELA-AU 8 145170207 145170207 single base substitution G A downstream_gene_variant MELA-AU 8 145170207 145170207 single base substitution G A intron_variant MELA-AU 8 145170238 145170238 single base substitution C T downstream_gene_variant MELA-AU 8 145170238 145170238 single base substitution C T splice_region_variant MELA-AU 8 145170336 145170336 single base substitution C T 3_prime_UTR_variant MELA-AU 8 145170336 145170336 single base substitution C T downstream_gene_variant MELA-AU 8 145170336 145170336 single base substitution C T exon_variant MELA-AU 8 145170336 145170336 single base substitution C T synonymous_variant F1390F 4170C>T MELA-AU 8 145170466 145170466 single base substitution C T 3_prime_UTR_variant MELA-AU 8 145170466 145170466 single base substitution C T downstream_gene_variant MELA-AU 8 145170466 145170466 single base substitution C T exon_variant MELA-AU 8 145170466 145170466 single base substitution C T missense_variant R1434C 4300C>T MELA-AU 8 145171186 145171186 single base substitution C T 3_prime_UTR_variant MELA-AU 8 145171186 145171186 single base substitution C T exon_variant MELA-AU 8 145171186 145171186 single base substitution C T missense_variant T1620I 4859C>T MELA-AU 8 145171333 145171333 single base substitution G A 3_prime_UTR_variant MELA-AU 8 145171333 145171333 single base substitution G A downstream_gene_variant MELA-AU 8 145171423 145171424 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 8 145171423 145171424 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 145171640 145171640 single base substitution G A 3_prime_UTR_variant MELA-AU 8 145171640 145171640 single base substitution G A downstream_gene_variant MELA-AU 8 145171744 145171744 single base substitution C T 3_prime_UTR_variant MELA-AU 8 145171744 145171744 single base substitution C T downstream_gene_variant MELA-AU 8 145172012 145172012 single base substitution C T 3_prime_UTR_variant MELA-AU 8 145172012 145172012 single base substitution C T downstream_gene_variant MELA-AU 8 145172350 145172350 single base substitution G A 3_prime_UTR_variant MELA-AU 8 145172350 145172350 single base substitution G A downstream_gene_variant MELA-AU 8 145172357 145172357 single base substitution C T 3_prime_UTR_variant MELA-AU 8 145172357 145172357 single base substitution C T downstream_gene_variant MELA-AU 8 145172466 145172466 single base substitution C T 3_prime_UTR_variant MELA-AU 8 145172466 145172466 single base substitution C T downstream_gene_variant MELA-AU 8 145172738 145172738 single base substitution G A 3_prime_UTR_variant MELA-AU 8 145172738 145172738 single base substitution G A downstream_gene_variant MELA-AU 8 145173649 145173649 single base substitution G A downstream_gene_variant MELA-AU 8 145173817 145173817 single base substitution G A downstream_gene_variant MELA-AU 8 145174038 145174038 single base substitution C T downstream_gene_variant MELA-AU 8 145174569 145174569 single base substitution A G downstream_gene_variant MELA-AU 8 145174822 145174822 single base substitution A T downstream_gene_variant MELA-AU 8 145175047 145175047 single base substitution C T downstream_gene_variant MELA-AU 8 145175098 145175098 single base substitution C T downstream_gene_variant MELA-AU 8 145175470 145175470 single base substitution G A downstream_gene_variant MELA-AU 8 145175545 145175545 single base substitution C T downstream_gene_variant MELA-AU 8 145175828 145175828 single base substitution C T downstream_gene_variant MELA-AU 8 145176159 145176159 single base substitution C T downstream_gene_variant MELA-AU 8 145176176 145176176 single base substitution G A downstream_gene_variant MELA-AU 8 145176422 145176422 single base substitution G A downstream_gene_variant MELA-AU 8 145176454 145176454 single base substitution G A downstream_gene_variant MELA-AU 8 145176478 145176478 single base substitution C T downstream_gene_variant MELA-AU 8 145177036 145177036 single base substitution G A downstream_gene_variant MELA-AU 8 145177052 145177052 single base substitution G A downstream_gene_variant MELA-AU 8 145177204 145177204 single base substitution C T downstream_gene_variant MELA-AU 8 145177226 145177226 single base substitution C T downstream_gene_variant MELA-AU 8 145177742 145177742 single base substitution G A downstream_gene_variant MELA-AU 8 145177787 145177787 single base substitution G A downstream_gene_variant MELA-AU 8 145177903 145177903 single base substitution C T downstream_gene_variant MELA-AU 8 145177945 145177945 single base substitution T A downstream_gene_variant MELA-AU 8 145177960 145177960 single base substitution T C downstream_gene_variant MELA-AU 8 145178132 145178132 single base substitution G A downstream_gene_variant MELA-AU 8 145178192 145178192 single base substitution G A downstream_gene_variant ORCA-IN 8 145173065 145173065 single base substitution C G 3_prime_UTR_variant ORCA-IN 8 145173065 145173065 single base substitution C G downstream_gene_variant OV-AU 8 145158166 145158166 single base substitution C G upstream_gene_variant OV-AU 8 145163788 145163788 single base substitution G A exon_variant OV-AU 8 145163788 145163788 single base substitution G A synonymous_variant V273V 819G>A OV-AU 8 145163788 145163788 single base substitution G A upstream_gene_variant OV-AU 8 145167215 145167215 single base substitution T G 3_prime_UTR_variant OV-AU 8 145167215 145167215 single base substitution T G downstream_gene_variant OV-AU 8 145167215 145167215 single base substitution T G exon_variant OV-AU 8 145167215 145167215 single base substitution T G intron_variant OV-AU 8 145167215 145167215 single base substitution T G missense_variant M995R 2984T>G OV-AU 8 145167215 145167215 single base substitution T G upstream_gene_variant OV-AU 8 145170849 145170849 single base substitution C G 3_prime_UTR_variant OV-AU 8 145170849 145170849 single base substitution C G downstream_gene_variant OV-AU 8 145170849 145170849 single base substitution C G exon_variant OV-AU 8 145170849 145170849 single base substitution C G stop_gained Y1533* 4599C>G OV-AU 8 145172430 145172430 single base substitution A G 3_prime_UTR_variant OV-AU 8 145172430 145172430 single base substitution A G downstream_gene_variant PACA-AU 8 145161068 145161068 single base substitution A G upstream_gene_variant PACA-AU 8 145162558 145162558 single base substitution A G upstream_gene_variant PACA-AU 8 145165571 145165571 single base substitution G A exon_variant PACA-AU 8 145165571 145165571 single base substitution G A synonymous_variant T700T 2100G>A PACA-AU 8 145165571 145165571 single base substitution G A upstream_gene_variant PACA-AU 8 145173197 145173197 single base substitution C T 3_prime_UTR_variant PACA-AU 8 145173197 145173197 single base substitution C T downstream_gene_variant PACA-AU 8 145174040 145174040 single base substitution C T downstream_gene_variant PACA-CA 8 145165360 145165360 single base substitution C T exon_variant PACA-CA 8 145165360 145165360 single base substitution C T missense_variant R654C 1960C>T PACA-CA 8 145165360 145165360 single base substitution C T upstream_gene_variant PACA-CA 8 145165368 145165368 single base substitution C T exon_variant PACA-CA 8 145165368 145165368 single base substitution C T synonymous_variant T656T 1968C>T PACA-CA 8 145165368 145165368 single base substitution C T upstream_gene_variant PACA-CA 8 145166707 145166707 single base substitution C A downstream_gene_variant PACA-CA 8 145166707 145166707 single base substitution C A intron_variant PACA-CA 8 145166707 145166707 single base substitution C A upstream_gene_variant PACA-CA 8 145167319 145167319 single base substitution T G downstream_gene_variant PACA-CA 8 145167319 145167319 single base substitution T G intron_variant PACA-CA 8 145167319 145167319 single base substitution T G upstream_gene_variant PACA-CA 8 145169205 145169205 single base substitution G A 3_prime_UTR_variant PACA-CA 8 145169205 145169205 single base substitution G A downstream_gene_variant PACA-CA 8 145169205 145169205 single base substitution G A exon_variant PACA-CA 8 145169205 145169205 single base substitution G A missense_variant E1207K 3619G>A PACA-CA 8 145170287 145170287 single base substitution G A 3_prime_UTR_variant PACA-CA 8 145170287 145170287 single base substitution G A downstream_gene_variant PACA-CA 8 145170287 145170287 single base substitution G A exon_variant PACA-CA 8 145170287 145170287 single base substitution G A missense_variant R1374H 4121G>A PACA-CA 8 145170407 145170407 single base substitution C T 3_prime_UTR_variant PACA-CA 8 145170407 145170407 single base substitution C T downstream_gene_variant PACA-CA 8 145170407 145170407 single base substitution C T exon_variant PACA-CA 8 145170407 145170407 single base substitution C T missense_variant P1414L 4241C>T PACA-CA 8 145172376 145172376 single base substitution G A 3_prime_UTR_variant PACA-CA 8 145172376 145172376 single base substitution G A downstream_gene_variant PACA-CA 8 145175314 145175314 insertion of <=200bp - T downstream_gene_variant PACA-CA 8 145175976 145175976 single base substitution G A downstream_gene_variant PAEN-AU 8 145175581 145175581 single base substitution A T downstream_gene_variant PAEN-IT 8 145164736 145164736 single base substitution G A exon_variant PAEN-IT 8 145164736 145164736 single base substitution G A missense_variant R500H 1499G>A PAEN-IT 8 145164736 145164736 single base substitution G A upstream_gene_variant PBCA-DE 8 145164788 145164788 single base substitution G A exon_variant PBCA-DE 8 145164788 145164788 single base substitution G A synonymous_variant P517P 1551G>A PBCA-DE 8 145164788 145164788 single base substitution G A upstream_gene_variant PBCA-DE 8 145164852 145164852 single base substitution G A exon_variant PBCA-DE 8 145164852 145164852 single base substitution G A missense_variant A539T 1615G>A PBCA-DE 8 145164852 145164852 single base substitution G A upstream_gene_variant PBCA-DE 8 145173849 145173850 deletion of <=200bp CA - downstream_gene_variant PRAD-UK 8 145166177 145166177 single base substitution G T downstream_gene_variant PRAD-UK 8 145166177 145166177 single base substitution G T exon_variant PRAD-UK 8 145166177 145166177 single base substitution G T intron_variant PRAD-UK 8 145166177 145166177 single base substitution G T upstream_gene_variant PRAD-UK 8 145172076 145172076 single base substitution T G 3_prime_UTR_variant PRAD-UK 8 145172076 145172076 single base substitution T G downstream_gene_variant RECA-EU 8 145161758 145161758 single base substitution C T upstream_gene_variant RECA-EU 8 145162645 145162645 single base substitution G A 5_prime_UTR_variant RECA-EU 8 145162645 145162645 single base substitution G A upstream_gene_variant RECA-EU 8 145171967 145171967 single base substitution T C 3_prime_UTR_variant RECA-EU 8 145171967 145171967 single base substitution T C downstream_gene_variant RECA-EU 8 145174075 145174075 single base substitution C T downstream_gene_variant RECA-EU 8 145176278 145176278 single base substitution C T downstream_gene_variant SKCA-BR 8 145162225 145162225 single base substitution A G upstream_gene_variant SKCA-BR 8 145164987 145164987 single base substitution T G exon_variant SKCA-BR 8 145164987 145164987 single base substitution T G intron_variant SKCA-BR 8 145164987 145164987 single base substitution T G upstream_gene_variant SKCA-BR 8 145167844 145167844 single base substitution C T downstream_gene_variant SKCA-BR 8 145167844 145167844 single base substitution C T exon_variant SKCA-BR 8 145167844 145167844 single base substitution C T intron_variant SKCA-BR 8 145168267 145168267 single base substitution T G downstream_gene_variant SKCA-BR 8 145168267 145168267 single base substitution T G exon_variant SKCA-BR 8 145168267 145168267 single base substitution T G intron_variant SKCA-BR 8 145169392 145169392 single base substitution C T downstream_gene_variant SKCA-BR 8 145169392 145169392 single base substitution C T exon_variant SKCA-BR 8 145169392 145169392 single base substitution C T intron_variant SKCA-BR 8 145170949 145170949 single base substitution A C downstream_gene_variant SKCA-BR 8 145170949 145170949 single base substitution A C intron_variant SKCA-BR 8 145174807 145174807 single base substitution C T downstream_gene_variant SKCA-BR 8 145175047 145175047 single base substitution C G downstream_gene_variant SKCA-BR 8 145175834 145175835 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 8 145176774 145176774 single base substitution C T downstream_gene_variant STAD-US 8 145160998 145160998 single base substitution G A upstream_gene_variant STAD-US 8 145161313 145161313 single base substitution A C upstream_gene_variant STAD-US 8 145161332 145161332 single base substitution C T upstream_gene_variant THCA-SA 8 145160851 145160851 single base substitution G A upstream_gene_variant THCA-SA 8 145166134 145166134 single base substitution C G downstream_gene_variant THCA-SA 8 145166134 145166134 single base substitution C G exon_variant THCA-SA 8 145166134 145166134 single base substitution C G intron_variant THCA-SA 8 145166134 145166134 single base substitution C G upstream_gene_variant THCA-SA 8 145166280 145166280 deletion of <=200bp C - 3_prime_UTR_variant THCA-SA 8 145166280 145166280 deletion of <=200bp C - downstream_gene_variant THCA-SA 8 145166280 145166280 deletion of <=200bp C - exon_variant THCA-SA 8 145166280 145166280 deletion of <=200bp C - intron_variant THCA-SA 8 145166280 145166280 deletion of <=200bp C - upstream_gene_variant THCA-SA 8 145168911 145168911 single base substitution G A 3_prime_UTR_variant THCA-SA 8 145168911 145168911 single base substitution G A downstream_gene_variant THCA-SA 8 145168911 145168911 single base substitution G A exon_variant THCA-SA 8 145168911 145168911 single base substitution G A missense_variant R1147Q 3440G>A THCA-SA 8 145169333 145169333 single base substitution C T 3_prime_UTR_variant THCA-SA 8 145169333 145169333 single base substitution C T downstream_gene_variant THCA-SA 8 145169333 145169333 single base substitution C T exon_variant THCA-SA 8 145169333 145169333 single base substitution C T synonymous_variant G1249G 3747C>T UCEC-US 8 145157953 145157953 single base substitution C T upstream_gene_variant UCEC-US 8 145160854 145160854 single base substitution C T upstream_gene_variant UCEC-US 8 145161332 145161332 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCC161 COSM3663642 c.429G>A p.T143T Substitution - coding silent 8:144108495-144108495 + WSU-HN6 COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + DN14067 COSM5960651 c.1000+8G>C p.? Unknown 8:144109178-144109178 + PTC-7C COSM4162835 c.1009A>C p.T337P Substitution - Missense 8:144109343-144109343 + AOCS-091-1-3 COSM4150650 c.819G>A p.V273V Substitution - coding silent 8:144108885-144108885 + PD7199a COSM5781831 c.447G>T p.R149R Substitution - coding silent 8:144108513-144108513 + PTC-7C COSM4162834 c.678T>C p.R226R Substitution - coding silent 8:144108744-144108744 + SC_9092 COSM5562328 c.1173G>A p.P391P Substitution - coding silent 8:144109507-144109507 + UPCI:SCC090 COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + BD72T COSM5512561 c.1479C>A p.T493T Substitution - coding silent 8:144109813-144109813 + TCGA-FU-A40J-01 COSM4843931 c.798C>T p.F266F Substitution - coding silent 8:144108864-144108864 + Co108 COSM50828 c.1153G>A p.V385M Substitution - Missense 8:144109487-144109487 + UM-SCC-4 COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + HCC29 COSM1623767 c.123C>G p.F41L Substitution - Missense 8:144108069-144108069 + 2492701 COSM5599772 c.2163C>T p.R721R Substitution - coding silent 8:144110731-144110731 + SM-4B295 COSM4162837 c.1380G>T p.A460A Substitution - coding silent 8:144109714-144109714 + ORL-48 COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + Detroit_562 COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + SC_9061 COSM5562230 c.1027C>G p.P343A Substitution - Missense 8:144109361-144109361 + HCC41T COSM1623768 c.1205G>C p.C402S Substitution - Missense 8:144109539-144109539 + Au10 COSM5598422 c.2043C>T p.D681D Substitution - coding silent 8:144110540-144110540 + U87 COSM3663642 c.429G>A p.T143T Substitution - coding silent 8:144108495-144108495 + PD11327a COSM5786107 c.713C>A p.A238E Substitution - Missense 8:144108779-144108779 + RMS88_ COSM4988850 c.482G>T p.G161V Substitution - Missense 8:144108548-144108548 + 49M COSM5591528 c.2291C>T p.S764F Substitution - Missense 8:144110983-144110983 + KPOPBR-03-T COSM5964835 c.2120C>G p.S707C Substitution - Missense 8:144110688-144110688 + PTC-515C COSM4162834 c.678T>C p.R226R Substitution - coding silent 8:144108744-144108744 + 2250187 COSM5030564 c.186G>A p.P62P Substitution - coding silent 8:144108132-144108132 + sysucc-1240T COSM5766075 c.2048G>A p.R683Q Substitution - Missense 8:144110545-144110545 + UM-SCC-2 COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + BD124T COSM5492469 c.1700+8C>T p.? Unknown 8:144110042-144110042 + Au4 COSM5603893 c.1726G>A p.D576N Substitution - Missense 8:144110139-144110139 + TCGA-EK-A3GK-01 COSM4852675 c.1055C>T p.S352L Substitution - Missense 8:144109389-144109389 + 8067508 COSM3785907 c.2100G>A p.T700T Substitution - coding silent 8:144110668-144110668 + HX34T COSM3747740 c.1910G>C p.R637P Substitution - Missense 8:144110407-144110407 + 938T COSM5825167 c.1499G>A p.R500H Substitution - Missense 8:144109833-144109833 + PT23_1 COSM5902868 c.889G>A p.D297N Substitution - Missense 8:144109059-144109059 + WSU-HN13 COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + PCSI_0015_Pa_P_526 COSM4963277 c.1968C>T p.T656T Substitution - coding silent 8:144110465-144110465 + UM-SCC-17B COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + LP6007594 COSM4410068 c.1116G>A p.A372A Substitution - coding silent 8:144109450-144109450 + BK0100 COSM2870892 c.1892_1893insGAGCCT p.L635_L636insSL Insertion - In frame 8:144110389-144110390 + UM-SCC-11B COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + UM-SCC-47 COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + WSU-HN8 COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + sysucc-1317T COSM5450448 c.1778C>T p.T593M Substitution - Missense 8:144110191-144110191 + 93VU147T COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + tumor_4135099 COSM3953180 c.2487C>T p.A829A Substitution - coding silent 8:144111283-144111283 + BD236T COSM5518870 c.1028C>T p.P343L Substitution - Missense 8:144109362-144109362 + RMS85_ COSM4988850 c.482G>T p.G161V Substitution - Missense 8:144108548-144108548 + HX36T COSM1623767 c.123C>G p.F41L Substitution - Missense 8:144108069-144108069 + PTC-7C COSM4162837 c.1380G>T p.A460A Substitution - coding silent 8:144109714-144109714 + SCC-9 COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + PD13418a COSM5776797 c.2513G>C p.*838S Nonstop extension 8:144111309-144111309 + CAL27 COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + BICR_22 COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + Au2 COSM5599772 c.2163C>T p.R721R Substitution - coding silent 8:144110731-144110731 + PTC-28C COSM4162839 c.2435C>G p.A812G Substitution - Missense 8:144111231-144111231 + UD-SCC-2 COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + 2492702 COSM5599772 c.2163C>T p.R721R Substitution - coding silent 8:144110731-144110731 + PTC-7C COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + SCC-15 COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + SC_9008 COSM5550090 c.1562C>T p.A521V Substitution - Missense 8:144109896-144109896 + LP6007508-DNA_A01 COSM5951587 c.1501G>A p.A501T Substitution - Missense 8:144109835-144109835 + PD8977a COSM5795299 c.1377G>A p.S459S Substitution - coding silent 8:144109711-144109711 + HCC29T COSM1623767 c.123C>G p.F41L Substitution - Missense 8:144108069-144108069 + BD124T COSM5492468 c.550C>T p.L184L Substitution - coding silent 8:144108616-144108616 + 2492703 COSM5599772 c.2163C>T p.R721R Substitution - coding silent 8:144110731-144110731 + NOKSI COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + WSU-HN12 COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + sysucc-274T COSM5476806 c.1969G>A p.A657T Substitution - Missense 8:144110466-144110466 + BHY COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + HCC161T COSM3663642 c.429G>A p.T143T Substitution - coding silent 8:144108495-144108495 + CAL33 COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + WSU-HN30 COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + QC2-39-T2 COSM4150650 c.819G>A p.V273V Substitution - coding silent 8:144108885-144108885 + Au3 COSM5601695 c.1841C>T p.S614L Substitution - Missense 8:144110254-144110254 + PTC-7C COSM4162836 c.1010C>T p.T337M Substitution - Missense 8:144109344-144109344 + PD9605a COSM2870876 c.817G>A p.V273M Substitution - Missense 8:144108883-144108883 + HCC41 COSM1623768 c.1205G>C p.C402S Substitution - Missense 8:144109539-144109539 + 2492700 COSM5599772 c.2163C>T p.R721R Substitution - coding silent 8:144110731-144110731 + PD4956a COSM5766075 c.2048G>A p.R683Q Substitution - Missense 8:144110545-144110545 + RK119_C01 COSM3768743 c.1208C>T p.A403V Substitution - Missense 8:144109542-144109542 + SCC-25 COSM4162838 c.1610A>G p.E537G Substitution - Missense 8:144109944-144109944 + PCSI_0191_Pa_P COSM3382156 c.1960C>T p.R654C Substitution - Missense 8:144110457-144110457 + TCGA-EK-A3GK-01 COSM4853506 c.648G>T p.M216I Substitution - Missense 8:144108714-144108714 + sysucc-1422T COSM5765395 c.2170C>T p.R724W Substitution - Missense 8:144110738-144110738 + sysucc-1370T COSM5472542 c.1354G>A p.D452N Substitution - Missense 8:144109688-144109688 + J80_T COSM3951446 c.2287A>G p.T763A Substitution - Missense 8:144110979-144110979 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.98723 8q24.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C - Frameshift p.L1229Cfs*5 c.3685delC 8 145169270 RCCC