### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TLR4) # 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}}" "TLR4" "toll like receptor 4" "9" "q33.1" "unknown" "NG_011475.2" "UD_144437141267" "" "" "" "1" "11850" "7099" "603030" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-12-21 11:22:33" "" "" "00005" "2021-08-29 15:19:28" ## 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}}" "00000075" "TLR4" "transcript variant 1" "002" "NM_138554.4" "" "NP_612564.1" "" "" "" "-298" "5363" "2520" "117704175" "117717491" "00001" "2020-12-21 11:23:54" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00047" "CD" "Crohn\'s disease" "" "" "" "" "" "00001" "2020-12-20 15:06:49" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TLR4" "00047" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000289" "" "" "" "1" "" "00002" "{PMID:Kek Heng Chua et al. (2016):27069792}" "" "" "Malaysia" "Malay" "" "" "00000290" "" "" "" "1" "" "00002" "{PMID:Kek Heng Chua et al. (2016):27069792}" "" "" "Malaysia" "Indian" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00000289" "00047" "00000290" "00047" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00047 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000304" "00000289" "1" "00002" "00002" "2020-12-21 11:49:21" "" "" "PCR" "DNA" "0000000305" "00000290" "1" "00002" "00002" "2020-12-21 11:54:11" "" "" "PCR" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000000304" "TLR4" "0000000305" "TLR4" ## 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 = 3 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000001381" "0" "90" "9" "117713324" "117713324" "subst" "0" "00002" "TLR4_000001" "g.117713324C>T" "7/20" "{PMID:Kek Heng Chua et al. (2016):27069792}, {dbSNP:rs4986791}, {ClinVar:6661}" "" "" "rs4986791" "0000001382" "3" "90" "9" "117713324" "117713324" "subst" "0" "00002" "TLR4_000001" "g.117713324C>T" "12/38" "{PMID:Kek Heng Chua et al. (2016):27069792}, {dbSNP:rs4986791}, {ClinVar:6661}" "" "" "rs4986791" "0000001383" "3" "90" "9" "117713324" "117713324" "subst" "0" "00002" "TLR4_000001" "g.117713324C>T" "1/38" "{PMID:Kek Heng Chua et al. (2016):27069792}, {dbSNP:rs4986791}, {ClinVar:6661}" "" "" "rs4986791" ## 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 TLR4 ## Count = 3 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000001381" "00000075" "90" "1196" "0" "1196" "0" "c.1196C>T" "" "p.(Thr399Ile)" "r.(?)" "" "" "{ClinVar:6661}" "0000001382" "00000075" "90" "1196" "0" "1196" "0" "c.1196C>T" "" "p.(Thr399Ile)" "r.(?)" "" "" "{ClinVar:6661}" "0000001383" "00000075" "90" "1196" "0" "1196" "0" "c.1196C>T" "" "p.(Thr399Ile)" "r.(?)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000000304" "0000001381" "0000000305" "0000001382" "0000000305" "0000001383"