Use QuickSlide tab to insert picture PGMD: a

Use QuickSlide tab to insert picture PGMD: a

Use QuickSlide tab to insert picture PGMD: a comprehensive pharmacogenomic database for personalized medicine and drug discovery Alexander Kaplun, PhD Sample to Insight Sep 22 2015 1 Got diagnosed. Now what? Sample to Insight PGMDTM Comprehensive pharmacogenomic database PGx/ADME panels FDA and EMA approved drugs containing PGx labels Sample to Insight Associations from 6500+ publications from 500+ journals studying >1400 drugs A comprehensive source of PGx data Focus on peer-reviewed scientific literature Experimental results are extracted by highly trained genetic experts Content is updated 4x per year Sample to Insight PGMD: PharmacoGenomic Mutation Database Facilitates mapping of variants onto genome at position or genotype level Associations from 6500+ publications from 500+ journals studying >1400 drugs A/C Sample to Insight Genotype/haplotype specific

findings Median dose requirement of warfarin in patients with CYP2C9*1/CYP2C9*3 haplotype is 2.6 mg Statistical significance p-value - .001 Relative Risk, Hazards Ratio, 95% Confidence Interval when available Study details (All studies are in vivo) 22 cases with A/C genotype, 159 subjects studied, Design - Clinical Trial Pop: European Continental Ancestry Group, Age: 24-95, Treatment: All patients are treated with 0.5 mg to 10 mg/day of warfarin Types of evidence Sample to Insight Linkage Disequilibrium HapMap D, LOD, and R2 scores Computed for all PGMD sites Includes between non-PGMD sites Sample to Insight Allele frequencies Major sources including: EVS 1000 Genomes HapMap Sample to Insight Delivery models Online Download PGMD Web Interface MySQL database Custom TSV Pipeline Integration BED GFF Sample to Insight Patient with complex genotype Sample to Insight

Genome Trax Track HGMD inherited disease mutations HGMD imputed mutations Pharmacogenomic Variants GWAS Catalogue COSMIC somatic disease mutations ClinVar TRANSFAC experimentally verified TFBS ChIP-seq Transcription Factor Binding Sites Predicted [email protected] I hypersensitivity sites miRNA gene sites PTMs (Post-Translational Modifications) PROTEOME disease genes PROTEOME Drug target genes PROTEOME Pathway genes HGMD disease genes SIFT &Polyphen predictions, conservation EVS allele frequencies Allele frequency from 1000 Genomes dbSNP common SNPs dbSNP Sample to Insight Release 2015.1 146,581 14,570 806,806 18,735 2,626,811 127,638 15,330 9,178,528 10,732,462 2,735 35,079 14,905 2,976 2,057 27,257 88,986,833 3,663,071 12,330,177 13,604,359 60,879,061 Disease causing variants Regulatory variants Candidate Genes Function prediction & frequency Over 190 million annotations total

PGMD analysis of the patients exome Variant_start Variant_end strand 7870973 7870973 + 7870973 7870973 + 7870973 7870973 + 7870973 7870973 + 7870973 7870973 + 7870973 7870973 + 7870973 7870973 + 7870973 7870973 + 31401447 31401447 + 80168937 80168937 + 112176756 112176756 + 112176756 112176756 + 3010390 3010390 + 3010390 3010390 + 3010390 3010390 + 3010390 3010390 + 3010390 3010390 + 46563817 46563817 + 46563817 46563817 + 152420095 152420095 + 152420095 152420095 + 152420095 152420095 + 152420095 152420095 + 154414446 154414446 + 160494409 160494409 + 160494409 160494409 + 160551204 160551204 + 160551204

160551204 + 33060946 33060946 + 33060946 33060946 + 46743900 46743900 + 46743900 46743900 + 46743900 46743900 + 98348885 98348885 + 98348885 98348885 + 110200360 110200360 + 38298203 38298203 + 38298203 38298203 + Sample to Insight input_variati hgnc on A>G MTRR A>G MTRR A>G MTRR A>G MTRR A>G MTRR A>G MTRR A>G MTRR A>G MTRR A>G DROSHA G>A MSH3 T>A N/A T>A N/A C>T NQO2 C>T NQO2 C>T NQO2 C>T NQO2 C>T

NQO2 A>A/T CYP39A1 A>A/T CYP39A1 G>A/G ESR1 G>A/G ESR1 G>A/G ESR1 G>A/G ESR1 A>T OPRM1 A>G IGF2R A>G IGF2R G>C SLC22A1 G>C SLC22A1 A>A/G NT5C3 A>A/G NT5C3 C>C/T RAD54L C>C/T RAD54L C>C/T RAD54L G>A DPYD G>A DPYD T>C/T GSTM4 C>C/G CYP1B1 C>C/G CYP1B1 hyperlink Type accession feature entrez pmid uniprot https://portal.biobase-internati PGMD 9788885oG/G:Highly nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 increased risk of grade 2 or greater stomatitis 4552 20647221 Q9UBK8 https://portal.biobase-internati PGMD 9788890oA/G nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 or G/G:Verbal Fluency Test (CFL) score 4552 21618410 Q9UBK8

https://portal.biobase-internati PGMD 9788902oA/G nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 or G/G:Decreased bone mineral density 4552 20955826 Q9UBK8 https://portal.biobase-internati PGMD 9788912oA/G nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 or G/G:Increased frequency of oral mucositis 4552 18368069 Q9UBK8 https://portal.biobase-internati PGMD 9788916oA/G nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 or G/G:Fine motor speed 4552 21618410 Q9UBK8 https://portal.biobase-internati PGMD 9788922oG/G:Increased nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 of grade 2 or greater stomatitis 4552 20647221 Q9UBK8 https://portal.biobase-internati PGMD 9788929oA/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 or G/G:Platelet recovery 4552 18368069 Q9UBK8 https://portal.biobase-internati PGMD 9788934oG/G:Increased nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 methotrexate dose requirement 4552 15797993 Q9UBK8 https://portal.biobase-internati PGMD 9779040oG/G nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000024084 or G/A:Overall survival 29102 21118967 Q9NRR4 https://portal.biobase-internati PGMD 9770837oA/A:Response nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000026152 rate 4437 20940192 P20585 https://portal.biobase-internati PGMD 9760330oT/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000023451 or A/A:Increased recurrence N/A 22528324 N/A https://portal.biobase-internati PGMD 9760333oT/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000023451 or A/A:Shorter time to recurrence N/A

22528324 N/A https://portal.biobase-internati PGMD 9830610oT/T:Disease-free nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000131 survival 4835 22147260 P16083 https://portal.biobase-internati PGMD 9830609oT/T:Progression-free nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000131 survival 4835 21946896 P16083 https://portal.biobase-internati PGMD 9830613oT/T:Overall nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000131 survival 4835 21946896 P16083 https://portal.biobase-internati PGMD 9830622oT/T:Progression-free nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000131 survival 4835 21946896 P16083 https://portal.biobase-internati PGMD 9830631oT/T:Overall nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000131 survival 4835 21946896 P16083 https://portal.biobase-internati PGMD 9845161oA/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000002616 or A/T:Increased risk of severe grade 4 neutropenia 51302 22562553 Q9NYL5 https://portal.biobase-internati PGMD 9845164oA/T:Increased nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000002616 AUC of docetaxel 51302 22562553 Q9NYL5 https://portal.biobase-internati PGMD 9839822oG/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000021888 or A/A:Decreased risk of treatment discontinuation due to musculoskeletal 2099 23546553 syndrome P03372 https://portal.biobase-internati PGMD 9839826oG/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000021888 or A/A:Decreased risk of treatment discontinuation due to any toxicity 2099 23546553 P03372 https://portal.biobase-internati PGMD 9839829oG/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000021888

or A/A:Increased risk of treatment discontinuation due to any toxicity 2099 23546553 P03372 https://portal.biobase-internati PGMD 9839833oG/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000021888 or A/A:Decreased risk of treatment discontinuation due to musculoskeletal 2099 23546553 syndrome P03372 https://portal.biobase-internati PGMD 9819021oT/T:Highly nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000023022 decreased emesis 4988 23144877 P35372 https://portal.biobase-internati PGMD 9772975o[G/A-G/G] nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000024344 or [A/A-G/G]:Shorter median survival time 3482 22336232 P11717 https://portal.biobase-internati PGMD 9772974o[G/G-G/G]:Median nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000024344 survival time 3482 22336232 P11717 https://portal.biobase-internati PGMD 9826827oC/C nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000022803 or C/G:Risk of loss of response 6580 19584153 O15245 https://portal.biobase-internati PGMD 9826831oC/C nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000022803 or C/G:Risk of treatment failure 6580 19584153 O15245 https://portal.biobase-internati PGMD 9795841oA/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000023152 or A/G:Decreased clearance of 2 2-difluorodeoxyuridine 51251 22838949 Q9H0P0 https://portal.biobase-internati PGMD 9795845oA/G:Highly nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000023152 decreased clearance of gemcitabine 51251 22838949 Q9H0P0 https://portal.biobase-internati PGMD 9841971oC/T nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000021727 or T/T:Overall survival 8438 16520463 Q92698 https://portal.biobase-internati PGMD 9841981oC/T

nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000021727 or T/T:Overall survival 8438 16520463 Q92698 https://portal.biobase-internati PGMD 9841985oC/T nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000021727 or T/T:Decreased overall survival 8438 16520463 Q92698 https://portal.biobase-internati PGMD 9783573oA/A:Risk nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000022661 of grade 3 or greater vomiting 1806 20530282 Q12882 https://portal.biobase-internati PGMD 9783583oA/A:Risk nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000022661 of grade 3 or greater paresthesia 1806 20530282 Q12882 https://portal.biobase-internati PGMD 9830601oC/T nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000133 or C/C:Shorter disease-free survival 2948 22147260 Q03013 https://portal.biobase-internati PGMD 9786725oC/G nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000002579 or G/G:Disease-free survival 1545 17224914 Q16678 https://portal.biobase-internati PGMD 9786730oC/C nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000002579 or C/G:Progression-free survival 1545 18597657 Q16678 The result: 171 PGx variants Variant_start Variant_end strand 7870973 7870973 + 7870973 7870973 + 7870973 7870973 + 7870973 7870973 + 7870973 7870973 + 7870973 7870973 + 7870973 7870973 + 7870973 7870973 + 31401447

31401447 + 80168937 80168937 + 112176756 112176756 + 112176756 112176756 + 3010390 3010390 + 3010390 3010390 + 3010390 3010390 + 3010390 3010390 + 3010390 3010390 + 46563817 46563817 + 46563817 46563817 + 152420095 152420095 + 152420095 152420095 + 152420095 152420095 + 152420095 152420095 + 154414446 154414446 + 160494409 160494409 + 160494409 160494409 + 160551204 160551204 + 160551204 160551204 + 33060946 33060946 + 33060946 33060946 + 46743900 46743900 + 46743900 46743900 + 46743900 46743900 + 98348885 98348885 + 98348885 98348885 + 110200360 110200360 + 38298203 38298203 + 38298203 38298203 + Sample to

Insight input_variati hgnc on A>G MTRR A>G MTRR A>G MTRR A>G MTRR A>G MTRR A>G MTRR A>G MTRR A>G MTRR A>G DROSHA G>A MSH3 T>A N/A T>A N/A C>T NQO2 C>T NQO2 C>T NQO2 C>T NQO2 C>T NQO2 A>A/T CYP39A1 A>A/T CYP39A1 G>A/G ESR1 G>A/G ESR1 G>A/G ESR1 G>A/G ESR1 A>T OPRM1 A>G IGF2R A>G IGF2R G>C SLC22A1 G>C SLC22A1

A>A/G NT5C3 A>A/G NT5C3 C>C/T RAD54L C>C/T RAD54L C>C/T RAD54L G>A DPYD G>A DPYD T>C/T GSTM4 C>C/G CYP1B1 C>C/G CYP1B1 hyperlink Type accession feature entrez pmid uniprot https://portal.biobase-internati PGMD 9788885oG/G:Highly nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 increased risk of grade 2 or greater stomatitis 4552 20647221 Q9UBK8 https://portal.biobase-internati PGMD 9788890oA/G nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 or G/G:Verbal Fluency Test (CFL) score 4552 21618410 Q9UBK8 https://portal.biobase-internati PGMD 9788902oA/G nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 or G/G:Decreased bone mineral density 4552 20955826 Q9UBK8 https://portal.biobase-internati PGMD 9788912oA/G nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 or G/G:Increased frequency of oral mucositis 4552 18368069 Q9UBK8 https://portal.biobase-internati PGMD 9788916oA/G nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 or G/G:Fine motor speed 4552 21618410 Q9UBK8 https://portal.biobase-internati PGMD 9788922oG/G:Increased nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 of grade 2 or greater stomatitis

4552 20647221 Q9UBK8 https://portal.biobase-internati PGMD 9788929oA/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 or G/G:Platelet recovery 4552 18368069 Q9UBK8 https://portal.biobase-internati PGMD 9788934oG/G:Increased nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 methotrexate dose requirement 4552 15797993 Q9UBK8 https://portal.biobase-internati PGMD 9779040oG/G nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000024084 or G/A:Overall survival 29102 21118967 Q9NRR4 https://portal.biobase-internati PGMD 9770837oA/A:Response nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000026152 rate 4437 20940192 P20585 https://portal.biobase-internati PGMD 9760330oT/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000023451 or A/A:Increased recurrence N/A 22528324 N/A https://portal.biobase-internati PGMD 9760333oT/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000023451 or A/A:Shorter time to recurrence N/A 22528324 N/A https://portal.biobase-internati PGMD 9830610oT/T:Disease-free nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000131 survival 4835 22147260 P16083 https://portal.biobase-internati PGMD 9830609oT/T:Progression-free nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000131 survival 4835 21946896 P16083 https://portal.biobase-internati PGMD 9830613oT/T:Overall nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000131 survival 4835 21946896 P16083 https://portal.biobase-internati PGMD 9830622oT/T:Progression-free nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000131

survival 4835 21946896 P16083 https://portal.biobase-internati PGMD 9830631oT/T:Overall nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000131 survival 4835 21946896 P16083 https://portal.biobase-internati PGMD 9845161oA/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000002616 or A/T:Increased risk of severe grade 4 neutropenia 51302 22562553 Q9NYL5 https://portal.biobase-internati PGMD 9845164oA/T:Increased nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000002616 AUC of docetaxel 51302 22562553 Q9NYL5 https://portal.biobase-internati PGMD 9839822oG/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000021888 or A/A:Decreased risk of treatment discontinuation due to musculoskeletal 2099 23546553 syndrome P03372 https://portal.biobase-internati PGMD 9839826oG/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000021888 or A/A:Decreased risk of treatment discontinuation due to any toxicity 2099 23546553 P03372 https://portal.biobase-internati PGMD 9839829oG/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000021888 or A/A:Increased risk of treatment discontinuation due to any toxicity 2099 23546553 P03372 https://portal.biobase-internati PGMD 9839833oG/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000021888 or A/A:Decreased risk of treatment discontinuation due to musculoskeletal 2099 23546553 syndrome P03372 https://portal.biobase-internati PGMD 9819021oT/T:Highly nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000023022 decreased emesis 4988 23144877 P35372 https://portal.biobase-internati PGMD 9772975o[G/A-G/G] nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000024344 or [A/A-G/G]:Shorter median survival time 3482 22336232 P11717 https://portal.biobase-internati

PGMD 9772974o[G/G-G/G]:Median nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000024344 survival time 3482 22336232 P11717 https://portal.biobase-internati PGMD 9826827oC/C nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000022803 or C/G:Risk of loss of response 6580 19584153 O15245 https://portal.biobase-internati PGMD 9826831oC/C nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000022803 or C/G:Risk of treatment failure 6580 19584153 O15245 https://portal.biobase-internati PGMD 9795841oA/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000023152 or A/G:Decreased clearance of 2 2-difluorodeoxyuridine 51251 22838949 Q9H0P0 https://portal.biobase-internati PGMD 9795845oA/G:Highly nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000023152 decreased clearance of gemcitabine 51251 22838949 Q9H0P0 https://portal.biobase-internati PGMD 9841971oC/T nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000021727 or T/T:Overall survival 8438 16520463 Q92698 https://portal.biobase-internati PGMD 9841981oC/T nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000021727 or T/T:Overall survival 8438 16520463 Q92698 https://portal.biobase-internati PGMD 9841985oC/T nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000021727 or T/T:Decreased overall survival 8438 16520463 Q92698 https://portal.biobase-internati PGMD 9783573oA/A:Risk nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000022661 of grade 3 or greater vomiting 1806 20530282 Q12882 https://portal.biobase-internati PGMD 9783583oA/A:Risk nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000022661 of grade 3 or greater paresthesia 1806 20530282 Q12882 https://portal.biobase-internati PGMD

9830601oC/T nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000133 or C/C:Shorter disease-free survival 2948 22147260 Q03013 https://portal.biobase-internati PGMD 9786725oC/G nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000002579 or G/G:Disease-free survival 1545 17224914 Q16678 https://portal.biobase-internati PGMD 9786730oC/C nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000002579 or C/G:Progression-free survival 1545 18597657 Q16678 54 of them are cancer therapy related Variant_start Variant_end strand 7870973 7870973 + 7870973 7870973 + 7870973 7870973 + 7870973 7870973 + 7870973 7870973 + 7870973 7870973 + 7870973 7870973 + 7870973 7870973 + 31401447 31401447 + 80168937 80168937 + 112176756 112176756 + 112176756 112176756 + 3010390 3010390 + 3010390 3010390 + 3010390 3010390 + 3010390 3010390 + 3010390 3010390 + 46563817 46563817 + 46563817 46563817 + 152420095

152420095 + 152420095 152420095 + 152420095 152420095 + 152420095 152420095 + 154414446 154414446 + 160494409 160494409 + 160494409 160494409 + 160551204 160551204 + 160551204 160551204 + 33060946 33060946 + 33060946 33060946 + 46743900 46743900 + 46743900 46743900 + 46743900 46743900 + 98348885 98348885 + 98348885 98348885 + 110200360 110200360 + 38298203 38298203 + 38298203 38298203 + Sample to Insight input_variati hgnc on A>G MTRR A>G MTRR A>G MTRR A>G MTRR A>G MTRR A>G MTRR A>G MTRR A>G MTRR A>G

DROSHA G>A MSH3 T>A N/A T>A N/A C>T NQO2 C>T NQO2 C>T NQO2 C>T NQO2 C>T NQO2 A>A/T CYP39A1 A>A/T CYP39A1 G>A/G ESR1 G>A/G ESR1 G>A/G ESR1 G>A/G ESR1 A>T OPRM1 A>G IGF2R A>G IGF2R G>C SLC22A1 G>C SLC22A1 A>A/G NT5C3 A>A/G NT5C3 C>C/T RAD54L C>C/T RAD54L C>C/T RAD54L G>A DPYD G>A DPYD T>C/T GSTM4 C>C/G CYP1B1 C>C/G CYP1B1 hyperlink Type

accession feature entrez pmid uniprot https://portal.biobase-internati PGMD 9788885oG/G:Highly nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 increased risk of grade 2 or greater stomatitis 4552 20647221 Q9UBK8 https://portal.biobase-internati PGMD 9788890oA/G nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 or G/G:Verbal Fluency Test (CFL) score 4552 21618410 Q9UBK8 https://portal.biobase-internati PGMD 9788902oA/G nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 or G/G:Decreased bone mineral density 4552 20955826 Q9UBK8 https://portal.biobase-internati PGMD 9788912oA/G nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 or G/G:Increased frequency of oral mucositis 4552 18368069 Q9UBK8 https://portal.biobase-internati PGMD 9788916oA/G nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 or G/G:Fine motor speed 4552 21618410 Q9UBK8 https://portal.biobase-internati PGMD 9788922oG/G:Increased nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 of grade 2 or greater stomatitis 4552 20647221 Q9UBK8 https://portal.biobase-internati PGMD 9788929oA/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 or G/G:Platelet recovery 4552 18368069 Q9UBK8 https://portal.biobase-internati PGMD 9788934oG/G:Increased nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000172 methotrexate dose requirement 4552 15797993 Q9UBK8 https://portal.biobase-internati PGMD 9779040oG/G nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000024084 or G/A:Overall survival 29102 21118967 Q9NRR4 https://portal.biobase-internati PGMD 9770837oA/A:Response

nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000026152 rate 4437 20940192 P20585 https://portal.biobase-internati PGMD 9760330oT/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000023451 or A/A:Increased recurrence N/A 22528324 N/A https://portal.biobase-internati PGMD 9760333oT/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000023451 or A/A:Shorter time to recurrence N/A 22528324 N/A https://portal.biobase-internati PGMD 9830610oT/T:Disease-free nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000131 survival 4835 22147260 P16083 https://portal.biobase-internati PGMD 9830609oT/T:Progression-free nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000131 survival 4835 21946896 P16083 https://portal.biobase-internati PGMD 9830613oT/T:Overall nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000131 survival 4835 21946896 P16083 https://portal.biobase-internati PGMD 9830622oT/T:Progression-free nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000131 survival 4835 21946896 P16083 https://portal.biobase-internati PGMD 9830631oT/T:Overall nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000131 survival 4835 21946896 P16083 https://portal.biobase-internati PGMD 9845161oA/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000002616 or A/T:Increased risk of severe grade 4 neutropenia 51302 22562553 Q9NYL5 https://portal.biobase-internati PGMD 9845164oA/T:Increased nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000002616 AUC of docetaxel 51302 22562553 Q9NYL5 https://portal.biobase-internati PGMD

9839822oG/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000021888 or A/A:Decreased risk of treatment discontinuation due to musculoskeletal 2099 23546553 syndrome P03372 https://portal.biobase-internati PGMD 9839826oG/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000021888 or A/A:Decreased risk of treatment discontinuation due to any toxicity 2099 23546553 P03372 https://portal.biobase-internati PGMD 9839829oG/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000021888 or A/A:Increased risk of treatment discontinuation due to any toxicity 2099 23546553 P03372 https://portal.biobase-internati PGMD 9839833oG/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000021888 or A/A:Decreased risk of treatment discontinuation due to musculoskeletal 2099 23546553 syndrome P03372 https://portal.biobase-internati PGMD 9819021oT/T:Highly nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000023022 decreased emesis 4988 23144877 P35372 https://portal.biobase-internati PGMD 9772975o[G/A-G/G] nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000024344 or [A/A-G/G]:Shorter median survival time 3482 22336232 P11717 https://portal.biobase-internati PGMD 9772974o[G/G-G/G]:Median nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000024344 survival time 3482 22336232 P11717 https://portal.biobase-internati PGMD 9826827oC/C nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000022803 or C/G:Risk of loss of response 6580 19584153 O15245 https://portal.biobase-internati PGMD 9826831oC/C nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000022803 or C/G:Risk of treatment failure 6580 19584153 O15245 https://portal.biobase-internati PGMD 9795841oA/A nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000023152 or A/G:Decreased clearance of 2 2-difluorodeoxyuridine

51251 22838949 Q9H0P0 https://portal.biobase-internati PGMD 9795845oA/G:Highly nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000023152 decreased clearance of gemcitabine 51251 22838949 Q9H0P0 https://portal.biobase-internati PGMD 9841971oC/T nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000021727 or T/T:Overall survival 8438 16520463 Q92698 https://portal.biobase-internati PGMD 9841981oC/T nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000021727 or T/T:Overall survival 8438 16520463 Q92698 https://portal.biobase-internati PGMD 9841985oC/T nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000021727 or T/T:Decreased overall survival 8438 16520463 Q92698 https://portal.biobase-internati PGMD 9783573oA/A:Risk nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000022661 of grade 3 or greater vomiting 1806 20530282 Q12882 https://portal.biobase-internati PGMD 9783583oA/A:Risk nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000022661 of grade 3 or greater paresthesia 1806 20530282 Q12882 https://portal.biobase-internati PGMD 9830601oC/T nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000000133 or C/C:Shorter disease-free survival 2948 22147260 Q03013 https://portal.biobase-internati PGMD 9786725oC/G nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000002579 or G/G:Disease-free survival 1545 17224914 Q16678 https://portal.biobase-internati PGMD 9786730oC/C nal.com/cgi-bin/knowledgebase/idb/1.0/get.cgi?PgxVariantReport&variant_acc=GV000002579 or C/G:Progression-free survival 1545 18597657 Q16678 54 of them are cancer therapy related NON-SMALL-CELL LUNG CANCER Sample to

Insight 54 of them are cancer therapy related NON-SMALL-CELL LUNG CANCER PLATINUM COMPOUNDS Sample to Insight 54 of them are cancer therapy related NON-SMALL-CELL LUNG CANCER PLATINUM COMPOUNDS Sample to Insight GEMCITABINE 54 of them are cancer therapy related NON-SMALL-CELL LUNG CANCER PLATINUM COMPOUNDS BREAST CANCER Sample to Insight GEMCITABINE 54 of them are cancer therapy related NON-SMALL-CELL LUNG CANCER PLATINUM COMPOUNDS GEMCITABINE BREAST CANCER DOCETAXEL OR OTHER TAXANES ADJUVANT AROMATASE INHIBITOR THERAPY Sample to Insight 54 of them are cancer therapy related NON-SMALL-CELL LUNG CANCER PLATINUM COMPOUNDS GEMCITABINE BREAST CANCER DOCETAXEL OR OTHER TAXANES ADJUVANT AROMATASE INHIBITOR THERAPY COLORECTAL CANCER Sample to Insight 54 of them are cancer therapy

related NON-SMALL-CELL LUNG CANCER PLATINUM COMPOUNDS GEMCITABINE BREAST CANCER DOCETAXEL OR OTHER TAXANES ADJUVANT AROMATASE INHIBITOR THERAPY COLORECTAL CANCER FOLFOX PROTOCOL Sample to Insight 54 of them are cancer therapy related MULTIPLE CANCERS Sample to Insight 54 of them are cancer therapy related MULTIPLE CANCERS METHOTREXATE (needs higher dose) ANTHRACYCLINES (more side effects) Sample to Insight Sample to Insight Sample to Insight 25

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