### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FMO1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "FMO1" "flavin containing monooxygenase 1" "1" "q24.3" "unknown" "NC_000001.10" "UD_136019592541" "" "https://www.LOVD.nl/FMO1" "" "1" "3769" "2326" "136130" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/FMO1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-03-06 00:00:00" "00006" "2017-03-31 17:42:14" "00000" "2020-06-05 15:19:04" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00001797" "FMO1" "flavin containing monooxygenase 1" "001" "NM_002021.1" "" "NP_002012.1" "" "" "" "-97" "2029" "1599" "171217663" "171255113" "00001" "2013-03-06 15:48:28" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "05259" "SQTL" "smoking, quantitative trait locus (SQTL)" "" "" "" "" "" "00006" "2017-04-04 22:04:59" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 32 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00102686" "" "" "" "1" "" "00057" "{PMID:Furnes 2003:12527699}" "analysis 50 individuals" "" "" "United States" "" "0" "" "" "African American" "12527699-Ind" "00102687" "" "" "" "2" "" "00057" "{PMID:Furnes 2003:12527699}" "analysis 50 individuals" "" "" "United States" "" "0" "" "" "African American" "12527699-Ind" "00102688" "" "" "" "2" "" "00057" "{PMID:Furnes 2003:12527699}" "analysis 50 individuals" "" "" "United States" "" "0" "" "" "African American" "12527699-Ind" "00102689" "" "" "" "1" "" "00057" "{PMID:Furnes 2003:12527699}" "analysis 50 individuals" "" "" "United States" "" "0" "" "" "African American" "12527699-Ind" "00102690" "" "" "" "1" "" "00057" "{PMID:Furnes 2003:12527699}" "analysis 50 individuals" "" "" "United States" "" "0" "" "" "African American" "12527699-Ind" "00102691" "" "" "" "1" "" "00057" "{PMID:Furnes 2003:12527699}" "analysis 50 individuals" "" "" "United States" "" "0" "" "" "African American" "12527699-Ind" "00102692" "" "" "" "1" "" "00057" "{PMID:Furnes 2003:12527699}" "analysis 50 individuals" "" "" "United States" "" "0" "" "" "African American" "12527699-Ind" "00102693" "" "" "" "3" "" "00006" "{PMID:Hines 2003:12829732}" "24 sample Coriell DNA Polymorphism Resource Panel" "" "" "" "" "0" "" "" "" "12829732-Ind" "00102694" "" "" "" "7" "" "00006" "{PMID:Hines 2003:12829732}" "24 sample Coriell DNA Polymorphism Resource Panel" "" "" "" "" "0" "" "" "" "12829732-Ind" "00102695" "" "" "" "14" "" "00006" "{PMID:Hines 2003:12829732}" "24 sample Coriell DNA Polymorphism Resource Panel" "" "" "" "" "0" "" "" "" "12829732-Ind" "00102696" "" "" "" "12" "" "00006" "{PMID:Hines 2003:12829732}" "24 sample Coriell DNA Polymorphism Resource Panel" "" "" "" "" "0" "" "" "" "12829732-Ind" "00102697" "" "" "" "6" "" "00006" "{PMID:Hines 2003:12829732}" "24 sample Coriell DNA Polymorphism Resource Panel" "" "" "" "" "0" "" "" "" "12829732-Ind" "00102698" "" "" "" "6" "" "00006" "{PMID:Hines 2003:12829732}" "24 sample Coriell DNA Polymorphism Resource Panel" "" "" "" "" "0" "" "" "" "12829732-Ind" "00102699" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "?" "00102700" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "?" "00102701" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "?" "00102702" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "?" "00102703" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "?" "00102704" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "?" "00102705" "" "" "" "7" "" "00006" "{PMID:Hines 2003:12829732}" "24 sample Coriell DNA Polymorphism Resource Panel" "" "" "" "" "0" "" "" "" "12829732-Ind" "00102706" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "?" "00102707" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "?" "00102708" "" "" "" "5" "" "00006" "{PMID:Hines 2003:12829732}" "24 sample Coriell DNA Polymorphism Resource Panel" "" "" "" "" "0" "" "" "" "12829732-Ind" "00102709" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "?" "00102710" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "?" "00102711" "" "" "" "5" "" "00006" "{PMID:Hines 2003:12829732}" "24 sample Coriell DNA Polymorphism Resource Panel" "" "" "" "" "0" "" "" "" "12829732-Ind" "00102712" "" "" "" "10" "" "00006" "{PMID:Hines 2003:12829732}" "24 sample Coriell DNA Polymorphism Resource Panel" "" "" "" "" "0" "" "" "" "12829732-Ind" "00103121" "" "" "" "52" "" "00006" "{PMID:Hines 2003:12829732}" "208 individuals analysed" "" "" "United States" "" "0" "" "" "African American" "12829732-AA" "00103122" "" "" "" "98" "" "00006" "{PMID:Hines 2003:12829732}" "184 individuals analysed" "" "" "United States" "" "0" "" "" "Hispanic" "12829732-His" "00103123" "" "" "" "26" "" "00006" "{PMID:Hines 2003:12829732}" "134 individuals analysed" "" "" "United States" "" "0" "" "" "European (North)" "12829732-EN" "00103124" "" "" "" "1" "" "00055" "{PMID:Hinrichs 2011:21540762}" "" "" "" "United States" "" "0" "" "" "European" "21540762-?" "00103125" "" "" "" "1" "" "00055" "{PMID:Hinrichs 2011:21540762}" "" "" "" "United States" "" "0" "" "" "European" "21540762-?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 32 "{{individualid}}" "{{diseaseid}}" "00102686" "00000" "00102687" "00000" "00102688" "00000" "00102689" "00000" "00102690" "00000" "00102691" "00000" "00102692" "00000" "00102693" "00000" "00102694" "00000" "00102695" "00000" "00102696" "00000" "00102697" "00000" "00102698" "00000" "00102699" "00000" "00102700" "00000" "00102701" "00000" "00102702" "00000" "00102703" "00000" "00102704" "00000" "00102705" "00000" "00102706" "00000" "00102707" "00000" "00102708" "00000" "00102709" "00000" "00102710" "00000" "00102711" "00000" "00102712" "00000" "00103121" "00000" "00103122" "00000" "00103123" "00000" "00103124" "05259" "00103125" "05259" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 05259 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000081212" "05259" "00103124" "00055" "Unknown" "" "heavy smoking" "" "" "" "" "" "" "" "" "" "0000081213" "05259" "00103125" "00055" "Unknown" "" "heavy smoking" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 32 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000103136" "00102686" "1" "00057" "00006" "2013-07-28 11:25:09" "" "" "DOVAM" "DNA" "blood" "" "0000103137" "00102687" "1" "00057" "00006" "2013-07-28 11:25:09" "" "" "DOVAM" "DNA" "blood" "" "0000103138" "00102688" "1" "00057" "00006" "2013-07-28 11:25:09" "" "" "DOVAM" "DNA" "blood" "" "0000103139" "00102689" "1" "00057" "00006" "2013-07-28 11:25:09" "" "" "DOVAM" "DNA" "blood" "" "0000103140" "00102690" "1" "00057" "00006" "2013-07-28 11:25:09" "" "" "DOVAM" "DNA" "blood" "" "0000103141" "00102691" "1" "00057" "00006" "2013-07-28 11:25:09" "" "" "DOVAM" "DNA" "blood" "" "0000103142" "00102692" "1" "00057" "00006" "2013-07-28 11:25:09" "" "" "DOVAM" "DNA" "blood" "" "0000103143" "00102693" "1" "00006" "00006" "2017-03-31 22:01:50" "" "" "SEQ" "DNA" "" "" "0000103144" "00102694" "1" "00006" "00006" "2017-03-31 22:01:50" "" "" "SEQ" "DNA" "" "" "0000103145" "00102695" "1" "00006" "00006" "2017-03-31 22:01:50" "" "" "SEQ" "DNA" "" "" "0000103146" "00102696" "1" "00006" "00006" "2017-03-31 22:01:50" "" "" "SEQ" "DNA" "" "" "0000103147" "00102697" "1" "00006" "00006" "2017-03-31 22:01:50" "" "" "SEQ" "DNA" "" "" "0000103148" "00102698" "1" "00006" "00006" "2017-03-31 22:01:50" "" "" "SEQ" "DNA" "" "" "0000103149" "00102699" "1" "00006" "00006" "2017-03-31 22:01:50" "" "" "SEQ" "DNA" "" "" "0000103150" "00102700" "1" "00006" "00006" "2017-03-31 22:01:50" "" "" "SEQ" "DNA" "" "" "0000103151" "00102701" "1" "00006" "00006" "2017-03-31 22:01:50" "" "" "SEQ" "DNA" "" "" "0000103152" "00102702" "1" "00006" "00006" "2017-03-31 22:01:50" "" "" "SEQ" "DNA" "" "" "0000103153" "00102703" "1" "00006" "00006" "2017-03-31 22:01:50" "" "" "SEQ" "DNA" "" "" "0000103154" "00102704" "1" "00006" "00006" "2017-03-31 22:01:50" "" "" "SEQ" "DNA" "" "" "0000103155" "00102705" "1" "00006" "00006" "2017-03-31 22:01:50" "" "" "SEQ" "DNA" "" "" "0000103156" "00102706" "1" "00006" "00006" "2017-03-31 22:01:50" "" "" "SEQ" "DNA" "" "" "0000103157" "00102707" "1" "00006" "00006" "2017-03-31 22:01:50" "" "" "SEQ" "DNA" "" "" "0000103158" "00102708" "1" "00006" "00006" "2017-03-31 22:01:50" "" "" "SEQ" "DNA" "" "" "0000103159" "00102709" "1" "00006" "00006" "2017-03-31 22:01:50" "" "" "SEQ" "DNA" "" "" "0000103160" "00102710" "1" "00006" "00006" "2017-03-31 22:01:50" "" "" "SEQ" "DNA" "" "" "0000103161" "00102711" "1" "00006" "00006" "2017-03-31 22:01:50" "" "" "SEQ" "DNA" "" "" "0000103162" "00102712" "1" "00006" "00006" "2017-03-31 22:01:50" "" "" "SEQ" "DNA" "" "" "0000103574" "00103121" "1" "00006" "00006" "2017-04-04 21:32:50" "" "" "SEQ" "DNA" "" "" "0000103575" "00103122" "1" "00006" "00006" "2017-04-04 21:32:50" "" "" "SEQ" "DNA" "" "" "0000103576" "00103123" "1" "00006" "00006" "2017-04-04 21:32:50" "" "" "SEQ" "DNA" "" "" "0000103577" "00103124" "1" "00006" "00006" "2017-04-04 22:16:25" "" "" "arraySNP" "DNA" "" "" "0000103578" "00103125" "1" "00006" "00006" "2017-04-04 22:21:40" "" "" "arraySNP" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{geneid}}" "0000103136" "FMO1" "0000103137" "FMO1" "0000103138" "FMO1" "0000103139" "FMO1" "0000103140" "FMO1" "0000103141" "FMO1" "0000103142" "FMO1" "0000103143" "FMO1" "0000103144" "FMO1" "0000103145" "FMO1" "0000103146" "FMO1" "0000103147" "FMO1" "0000103148" "FMO1" "0000103149" "FMO1" "0000103150" "FMO1" "0000103151" "FMO1" "0000103152" "FMO1" "0000103153" "FMO1" "0000103154" "FMO1" "0000103155" "FMO1" "0000103156" "FMO1" "0000103157" "FMO1" "0000103158" "FMO1" "0000103159" "FMO1" "0000103160" "FMO1" "0000103161" "FMO1" "0000103162" "FMO1" "0000103574" "FMO1" "0000103575" "FMO1" "0000103576" "FMO1" "0000103577" "FMO1" "0000103578" "FMO1" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 43 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000019213" "0" "55" "1" "171236840" "171236840" "subst" "0.00125042" "00057" "FMO1_000001" "g.171236840C>G" "" "{PMID:Furnes 2004:14976351}" "" "22739G>A (H97Q)" "cDNA expression cloning in baculovirus system, elevated catalytic efficiency for methyl p-tolyl sulfide (1.62), but slightly reduced efficiency for methimazole (0.81)" "In vitro (cloned)" "-" "" "0" "" "" "g.171267701C>G" "" "NA" "" "0000019215" "0" "11" "1" "171251196" "171251196" "subst" "0.0119626" "00057" "FMO1_000003" "g.171251196A>G" "" "{PMID:Furnes 2004:14976351}" "" "23970A>G (I303V)" "cDNA expression cloning in baculovirus system, no effect on activity for methimazole and methyl p-tolyl sulfide" "In vitro (cloned)" "-" "" "0" "" "" "g.171282057A>G" "" "NA" "" "0000019216" "0" "11" "1" "171251197" "171251197" "subst" "0.00132237" "00057" "FMO1_000004" "g.171251197T>C" "" "{PMID:Furnes 2004:14976351}" "" "23971T>C (I303T)" "cDNA expression cloning in baculovirus system, elevated catalytic efficiency for methyl p-tolyl sulfide (2.12), but slightly reduced efficiency for methimazole (0.78)" "In vitro (cloned)" "-" "" "0" "" "" "g.171282058T>C" "" "NA" "" "0000019217" "0" "55" "1" "171254588" "171254588" "subst" "0.00122599" "00057" "FMO1_000005" "g.171254588C>T" "" "{PMID:Furnes 2004:14976351}" "" "27362C>T (R502X)" "cDNA expression cloning in baculovirus system, no activity for methimazole, significantly reduced activity for thiourea, minor change in activity for imipramine" "In vitro (cloned)" "-" "" "0" "" "" "g.171285449C>T" "" "NA" "" "0000019218" "0" "55" "1" "171249965" "171249965" "subst" "0.000178834" "00057" "FMO1_000006" "g.171249965G>A" "" "" "" "g.22739G>A" "" "Unknown" "?" "rs16864310" "0" "" "" "g.171280826G>A" "" "VUS" "" "0000019220" "0" "55" "1" "171254485" "171254485" "subst" "0.00261361" "00057" "FMO1_000008" "g.171254485A>G" "0.02 in Chinese" "" "" "27258A>G" "" "Germline" "" "rs28360432" "0" "" "" "g.171285346A>G" "" "VUS" "" "0000019311" "0" "55" "1" "171208224" "171208224" "subst" "0" "00055" "FMO1_000009" "g.171208224C>A" "" "{PMID:Shephard 2007:17547558}" "" "-9536C>A" "variant in 5\'UTR of non-coding exon 1, promoter P0 (not active in human liver, active in other species)\r\nVariant Error [EREF/EREFSEQ]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "In vitro (cloned)" "-" "rs12720462" "0" "" "" "" "" "NA" "" "0000019549" "0" "55" "1" "171254890" "171254890" "subst" "0" "00055" "FMO1_000010" "g.171254890C>T" "" "{PMID:Hinrichs 2011:21540762}" "" "rs7877C>T, 1904C>T" "associated with heavy smoking" "Germline" "" "rs7877" "0" "" "" "g.171285751C>T" "" "VUS" "" "0000019550" "0" "55" "1" "171227216" "171227216" "subst" "0.309179" "00055" "FMO1_000011" "g.171227216T>C" "" "{PMID:Hinrichs 2011:21540762}" "" "" "associated with heavy smoking" "Germline" "" "rs10912675" "0" "" "" "g.171258077T>C" "" "VUS" "" "0000166227" "0" "50" "1" "171236840" "171236840" "subst" "0.00125042" "00057" "FMO1_000001" "g.171236840C>G" "1/100 chromosomes" "{PMID:Furnes 2003:12527699}" "" "C291G" "" "Germline" "-" "" "0" "" "" "g.171267701C>G" "" "VUS" "" "0000166228" "0" "50" "1" "171251196" "171251196" "subst" "0.0119626" "00057" "FMO1_000003" "g.171251196A>G" "2/100 chromosomes" "{PMID:Furnes 2003:12527699}" "" "A907G" "no homozygotes" "Germline" "-" "" "0" "" "" "g.171282057A>G" "" "VUS" "" "0000166229" "0" "50" "1" "171251197" "171251197" "subst" "0.00132237" "00057" "FMO1_000004" "g.171251197T>C" "2/100 chromosomes" "{PMID:Furnes 2003:12527699}" "" "T908C" "no homozygotes" "Germline" "-" "" "0" "" "" "g.171282058T>C" "" "VUS" "" "0000166230" "0" "50" "1" "171254588" "171254588" "subst" "0.00122599" "00057" "FMO1_000005" "g.171254588C>T" "1/100 chromosomes" "{PMID:Furnes 2003:12527699}" "" "C1504T" "" "Germline" "-" "" "0" "" "" "g.171285449C>T" "" "VUS" "" "0000166231" "0" "30" "1" "171244474" "171244474" "subst" "1.22598E-5" "00057" "FMO1_000012" "g.171244474T>C" "" "{PMID:Furnes 2003:12527699}" "" "IVS3-11T>C" "" "Germline" "-" "" "0" "" "" "g.171275335T>C" "" "likely benign" "" "0000166232" "0" "30" "1" "171250044" "171250044" "subst" "0.145356" "00057" "FMO1_000002" "g.171250044C>T" "" "{PMID:Furnes 2003:12527699}" "" "C747T" "" "Germline" "-" "" "0" "" "" "g.171280905C>T" "" "likely benign" "" "0000166233" "0" "30" "1" "171252287" "171252287" "subst" "0.151822" "00057" "FMO1_000007" "g.171252287A>G" "" "{PMID:Furnes 2003:12527699}" "" "A1188G" "" "Germline" "-" "" "0" "" "" "g.171283148A>G" "" "likely benign" "" "0000166234" "0" "30" "1" "171216866" "171216866" "subst" "0" "00006" "FMO1_000023" "g.171216866T>A" "0.10" "{PMID:Hines 2003:12829732}" "" "-10361T>A" "" "Germline" "-" "" "0" "" "" "g.171247727T>A" "" "likely benign" "" "0000166235" "0" "30" "1" "171216897" "171216897" "subst" "0" "00006" "FMO1_000014" "g.171216897C>T" "0.27" "{PMID:Hines 2003:12829732}" "" "-10330C>T" "" "Germline" "-" "" "0" "" "" "g.171247758C>T" "" "likely benign" "" "0000166236" "0" "30" "1" "171217181" "171217181" "subst" "0" "00006" "FMO1_000015" "g.171217181G>A" "0.56" "{PMID:Hines 2003:12829732}" "" "-10046A>G" "" "Germline" "-" "" "0" "" "" "g.171248042G>A" "" "likely benign" "" "0000166237" "0" "30" "1" "171217445" "171217445" "subst" "0" "00006" "FMO1_000016" "g.171217445C>T" "0.50" "{PMID:Hines 2003:12829732}" "" "-9782C>T" "" "Germline" "-" "" "0" "" "" "g.171248306C>T" "" "likely benign" "" "0000166238" "0" "70" "1" "171217691" "171217691" "subst" "0" "00006" "FMO1_000017" "g.171217691C>T" "0.25" "{PMID:Hines 2003:12829732}" "" "-9536C>A" "in YY1 regulatory element" "Germline" "-" "" "0" "" "" "g.171248552C>T" "" "likely pathogenic" "" "0000166239" "0" "30" "1" "171227216" "171227216" "subst" "0.309179" "00006" "FMO1_000011" "g.171227216T>C" "0.24" "{PMID:Hines 2003:12829732}" "" "-11T>C" "" "Germline" "-" "" "0" "" "" "g.171258077T>C" "" "likely benign" "" "0000166240" "0" "30" "1" "171236840" "171236840" "subst" "0.00125042" "00006" "FMO1_000001" "g.171236840C>G" "" "{PMID:Hines 2003:12829732}" "" "9614C>G (H97Q)" "" "Germline" "-" "" "0" "" "" "g.171267701C>G" "" "likely benign" "" "0000166241" "0" "30" "1" "171239982" "171239982" "subst" "0" "00006" "FMO1_000018" "g.171239982A>G" "" "{PMID:Hines 2003:12829732}" "" "12756A>G" "" "Germline" "-" "" "0" "" "" "g.171270843A>G" "" "likely benign" "" "0000166242" "0" "30" "1" "171244382" "171244382" "subst" "0" "00006" "FMO1_000019" "g.171244382T>C" "" "{PMID:Hines 2003:12829732}" "" "17156T>C" "" "Germline" "-" "" "0" "" "" "g.171275243T>C" "" "likely benign" "" "0000166243" "0" "30" "1" "171244474" "171244474" "subst" "1.22598E-5" "00006" "FMO1_000012" "g.171244474T>C" "" "{PMID:Hines 2003:12829732}" "" "17248T>C" "" "Germline" "-" "" "0" "" "" "g.171275335T>C" "" "likely benign" "" "0000166244" "0" "30" "1" "171244759" "171244759" "subst" "0" "00006" "FMO1_000020" "g.171244759A>C" "" "{PMID:Hines 2003:12829732}" "" "17533A>C" "" "Germline" "-" "" "0" "" "" "g.171275620A>C" "" "likely benign" "" "0000166245" "0" "30" "1" "171249094" "171249094" "subst" "0" "00006" "FMO1_000021" "g.171249094T>A" "" "{PMID:Hines 2003:12829732}" "" "21868T>A" "Variant Error [EREF/EREFSEQ]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "-" "" "0" "" "" "" "" "likely benign" "" "0000166246" "0" "30" "1" "171250044" "171250044" "subst" "0.145356" "00006" "FMO1_000002" "g.171250044C>T" "0.27" "{PMID:Hines 2003:12829732}" "" "22818C>T (T249T)" "" "Germline" "-" "" "0" "" "" "g.171280905C>T" "" "likely benign" "" "0000166247" "0" "30" "1" "171251196" "171251196" "subst" "0.0119626" "00006" "FMO1_000003" "g.171251196A>G" "" "{PMID:Hines 2003:12829732}" "" "23970A>G (I303V)" "" "Germline" "-" "" "0" "" "" "g.171282057A>G" "" "likely benign" "" "0000166248" "0" "30" "1" "171251197" "171251197" "subst" "0.00132237" "00006" "FMO1_000004" "g.171251197T>C" "" "{PMID:Hines 2003:12829732}" "" "23971T>C (I303T)" "" "Germline" "-" "" "0" "" "" "g.171282058T>C" "" "likely benign" "" "0000166249" "0" "30" "1" "171252287" "171252287" "subst" "0.151822" "00006" "FMO1_000007" "g.171252287A>G" "0.19" "{PMID:Hines 2003:12829732}" "" "25061A>G" "" "Germline" "-" "" "0" "" "" "g.171283148A>G" "" "likely benign" "" "0000166250" "0" "30" "1" "171252452" "171252452" "subst" "0" "00006" "FMO1_000022" "g.171252452A>T" "" "{PMID:Hines 2003:12829732}" "" "25226A>T" "" "Germline" "-" "" "0" "" "" "g.171283313A>T" "" "likely benign" "" "0000166251" "0" "30" "1" "171254588" "171254588" "subst" "0.00122599" "00006" "FMO1_000005" "g.171254588C>T" "" "{PMID:Hines 2003:12829732}" "" "27362C>T (R502X)" "" "Germline" "-" "" "0" "" "" "g.171285449C>T" "" "likely benign" "" "0000166252" "0" "30" "1" "171254794" "171254794" "subst" "0" "00006" "FMO1_000023" "g.171254794C>T" "0.19" "{PMID:Hines 2003:12829732}" "" "27568C>T" "" "Germline" "-" "" "0" "" "" "g.171285655C>T" "" "likely benign" "" "0000166253" "0" "30" "1" "171254890" "171254890" "subst" "0" "00006" "FMO1_000010" "g.171254890C>T" "0.40" "{PMID:Hines 2003:12829732}" "" "27664C>T" "" "Germline" "-" "" "0" "" "" "g.171285751C>T" "" "likely benign" "" "0000167003" "0" "70" "1" "171217691" "171217691" "subst" "0" "00006" "FMO1_000017" "g.171217691C>T" "" "{PMID:Hines 2003:12829732}" "" "-9536C>A" "electrophoretic mobility shift assay with HepG2 nuclear extract shows eliminated YY1 binding but enhanced binding of Oct1, HNF1alpha, and HNF1beta" "In vitro (cloned)" "" "" "0" "" "" "g.171248552C>T" "" "NA" "" "0000167004" "0" "70" "1" "171217691" "171217691" "subst" "0" "00006" "FMO1_000017" "g.171217691C>T" "" "{PMID:Hines 2003:12829732}" "" "-9536C>A" "promoter expression cloning in HepG2 cells shows 2-3x loss of FMO1 promoter activity" "In vitro (cloned)" "" "" "0" "" "" "g.171248552C>T" "" "NA" "" "0000167005" "1" "70" "1" "171217691" "171217691" "subst" "0" "00006" "FMO1_000017" "g.171217691C>T" "54/416 chromosomes" "{PMID:Hines 2003:12829732}" "" "-9536C>A" "3/208 homozygotes" "Germline" "" "" "0" "" "" "g.171248552C>T" "" "likely pathogenic" "" "0000167006" "1" "70" "1" "171217691" "171217691" "subst" "0" "00006" "FMO1_000017" "g.171217691C>T" "109/368 chromosomes" "{PMID:Hines 2003:12829732}" "" "-9536C>A" "11/184 homozygotes" "Germline" "" "" "0" "" "" "g.171248552C>T" "" "likely pathogenic" "" "0000167007" "1" "70" "1" "171217691" "171217691" "subst" "0" "00006" "FMO1_000017" "g.171217691C>T" "29/268 chromosomes" "{PMID:Hines 2003:12829732}" "" "-9536C>A" "3/134 homozygotes" "Germline" "" "" "0" "" "" "g.171248552C>T" "" "likely pathogenic" "" "0000167008" "0" "55" "1" "171208224" "171208224" "subst" "0" "00055" "FMO1_000009" "g.171208224C>A" "" "{PMID:Soderberg 2012:23147717}" "" "" "associated with increased dose-adjusted serum OLA concentrations (C/Ds; P.0.008)\r\nVariant Error [EREF/EREFSEQ]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "rs12720462" "0" "" "" "" "" "VUS" "" "0000167009" "0" "55" "1" "171254890" "171254890" "subst" "0" "00055" "FMO1_000010" "g.171254890C>T" "" "{PMID:Soderberg 2012:23147717}" "" "" "in smokers variant enhances FMO1*6 association with increased dose-adjusted serum olanzapine concentrations" "Germline" "" "rs7877" "0" "" "" "g.171285751C>T" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FMO1 ## Count = 43 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Haplotype}}" "{{VariantOnTranscript/Enzyme/Kinase_activity}}" "0000019213" "00001797" "55" "291" "0" "291" "0" "c.291C>G" "-" "p.His97Gln" "3" "FMO1*2" "" "0000019215" "00001797" "11" "907" "0" "907" "0" "c.907A>G" "-" "p.Ile303Val" "7" "FMO1*3" "" "0000019216" "00001797" "11" "908" "0" "908" "0" "c.908T>C" "-" "p.Ile303Thr" "7" "FMO1*4" "" "0000019217" "00001797" "55" "1504" "0" "1504" "0" "c.1504C>T" "-" "p.Arg502*" "9" "FMO1*5" "" "0000019218" "00001797" "55" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "6" "" "" "0000019220" "00001797" "55" "1401" "0" "1401" "0" "c.1401A>G" "r.(?)" "p.(Pro467=)" "9" "" "" "0000019311" "00001797" "55" "-69" "0" "-69" "0" "c.-69C>A" "r.(?)" "p.(=)" "_1" "FMO1*6" "" "0000019549" "00001797" "55" "1806" "0" "1806" "0" "c.*207C>T" "r.(?)" "p.(=)" "9" "" "" "0000019550" "00001797" "55" "-6" "-5" "-6" "-5" "c.-6-5T>C" "r.(?)" "p.(=)" "1i" "" "" "0000166227" "00001797" "50" "291" "0" "291" "0" "c.291C>G" "r.(?)" "p.(His97Gln)" "3" "" "" "0000166228" "00001797" "50" "907" "0" "907" "0" "c.907A>G" "r.(?)" "p.(Ile303Val)" "7" "" "" "0000166229" "00001797" "50" "908" "0" "908" "0" "c.908T>C" "r.(?)" "p.(Ile303Thr)" "7" "" "" "0000166230" "00001797" "50" "1504" "0" "1504" "0" "c.1504C>T" "r.(?)" "p.(Arg502*)" "9" "" "" "0000166231" "00001797" "30" "322" "-11" "322" "-11" "c.322-11T>C" "r.(?)" "p.(=)" "3i" "" "" "0000166232" "00001797" "30" "747" "0" "747" "0" "c.747C>T" "r.(?)" "p.(Thr249=)" "6" "" "" "0000166233" "00001797" "30" "1188" "0" "1188" "0" "c.1188A>G" "r.(?)" "p.(Val396=)" "8" "" "" "0000166234" "00001797" "30" "-894" "0" "-894" "0" "c.-894T>A" "-" "-" "_1" "FMO1*1D" "" "0000166235" "00001797" "30" "-863" "0" "-863" "0" "c.-863C>T" "-" "-" "_1" "FMO1*1E" "" "0000166236" "00001797" "30" "-579" "0" "-579" "0" "c.-579G>A" "-" "-" "_1" "FMO1*1F" "" "0000166237" "00001797" "30" "-315" "0" "-315" "0" "c.-315C>T" "-" "-" "_1" "FMO1*1G" "" "0000166238" "00001797" "70" "-69" "0" "-69" "0" "c.-69C>T" "r.(?)" "p.(=)" "1" "FMO1*6" "" "0000166239" "00001797" "30" "-6" "-5" "-6" "-5" "c.-6-5T>C" "r.(?)" "p.(=)" "1i" "FMO1*1H" "" "0000166240" "00001797" "30" "291" "0" "291" "0" "c.291C>G" "r.(?)" "p.(His97Gln)" "3" "FMO1*2" "" "0000166241" "00001797" "30" "321" "3112" "321" "3112" "c.321+3112A>G" "r.(?)" "p.(=)" "3i" "FMO1*1I" "" "0000166242" "00001797" "30" "322" "-103" "322" "-103" "c.322-103T>C" "r.(?)" "p.(=)" "3i" "FMO1*1J" "" "0000166243" "00001797" "30" "322" "-11" "322" "-11" "c.322-11T>C" "r.(?)" "p.(=)" "3i" "FMO1*1A" "" "0000166244" "00001797" "30" "484" "112" "484" "112" "c.484+112A>C" "r.(?)" "p.(=)" "4i" "FMO1*1K" "" "0000166245" "00001797" "30" "628" "-831" "628" "-831" "c.628-831A>T" "r.(?)" "p.(=)" "5i" "FMO1*1L" "" "0000166246" "00001797" "30" "747" "0" "747" "0" "c.747C>T" "r.(?)" "p.(Thr249=)" "6" "FMO1*1B" "" "0000166247" "00001797" "30" "907" "0" "907" "0" "c.907A>G" "r.(?)" "p.(Ile303Val)" "7" "FMO1*3" "" "0000166248" "00001797" "30" "908" "0" "908" "0" "c.908T>C" "r.(?)" "p.(Ile303Thr)" "7" "FMO1*4" "" "0000166249" "00001797" "30" "1188" "0" "1188" "0" "c.1188A>G" "r.(?)" "p.(Val396=)" "8" "FMO1*1C" "" "0000166250" "00001797" "30" "1256" "97" "1256" "97" "c.1256+97A>T" "r.(?)" "p.(=)" "8i" "FMO1*1M" "" "0000166251" "00001797" "30" "1504" "0" "1504" "0" "c.1504C>T" "r.(?)" "p.(Arg502*)" "9" "FMO1*5" "" "0000166252" "00001797" "30" "1710" "0" "1710" "0" "c.*111C>T" "r.(?)" "p.(=)" "9" "FMO1*1N" "" "0000166253" "00001797" "30" "1806" "0" "1806" "0" "c.*207C>T" "r.(?)" "p.(=)" "9" "FMO1*1O" "" "0000167003" "00001797" "70" "-69" "0" "-69" "0" "c.-69C>T" "r.(?)" "p.(=)" "1" "FMO1*6" "" "0000167004" "00001797" "70" "-69" "0" "-69" "0" "c.-69C>T" "r.(?)" "p.(=)" "1" "FMO1*6" "" "0000167005" "00001797" "70" "-69" "0" "-69" "0" "c.-69C>T" "r.(?)" "p.(=)" "1" "FMO1*6" "" "0000167006" "00001797" "70" "-69" "0" "-69" "0" "c.-69C>T" "r.(?)" "p.(=)" "1" "FMO1*6" "" "0000167007" "00001797" "70" "-69" "0" "-69" "0" "c.-69C>T" "r.(?)" "p.(=)" "1" "FMO1*6" "" "0000167008" "00001797" "55" "-69" "0" "-69" "0" "c.-69C>A" "r.(?)" "p.(=)" "_1" "FMO1*6" "" "0000167009" "00001797" "55" "1806" "0" "1806" "0" "c.*207C>T" "r.(?)" "p.(=)" "9" "FMO1*1O" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{variantid}}" "0000103136" "0000166227" "0000103137" "0000166228" "0000103138" "0000166229" "0000103139" "0000166230" "0000103140" "0000166231" "0000103141" "0000166232" "0000103142" "0000166233" "0000103143" "0000166234" "0000103144" "0000166235" "0000103145" "0000166236" "0000103146" "0000166237" "0000103147" "0000166238" "0000103148" "0000166239" "0000103149" "0000166240" "0000103150" "0000166241" "0000103151" "0000166242" "0000103152" "0000166243" "0000103153" "0000166244" "0000103154" "0000166245" "0000103155" "0000166246" "0000103156" "0000166247" "0000103157" "0000166248" "0000103158" "0000166249" "0000103159" "0000166250" "0000103160" "0000166251" "0000103161" "0000166252" "0000103162" "0000166253" "0000103574" "0000167005" "0000103575" "0000167006" "0000103576" "0000167007" "0000103577" "0000019549" "0000103578" "0000019550"