### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WRAP53) # 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}}" "WRAP53" "WD repeat containing, antisense to TP53" "17" "p13.1" "unknown" "LRG_375" "UD_132119000825" "" "http://www.LOVD.nl/WRAP53" "The WARP53 (WRD79, TCAB1) Telomerase Database " "1" "25522" "55135" "612661" "1" "1" "1" "1" "alias WRD79, TCAB1\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. As a start data were copied from the Telomerase Database TERC (TR) gene." "" "g" "http://databases.lovd.nl/shared/refseq/WRAP53_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-06-25 14:57:50" "00000" "2025-05-05 21:14:00" ## 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}}" "00024068" "WRAP53" "transcript variant 4" "004" "NM_001143992.1" "" "NP_001137464.1" "" "" "" "-214" "1663" "1647" "7591667" "7606820" "00006" "2015-10-26 21:19:59" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "03509" "DKCB3" "dyskeratosis congenita, autosomal recessive, type 3 (DKCB-3)" "AR" "613988" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "WRAP53" "03509" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00052954" "" "" "" "1" "" "00006" "{PMID:Zhong 2011:21205863}, {DOI:Zhong 2011:10.1101/gad.2006411}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sister" "M" "no" "United States" "" "0" "" "" "" "" "00052955" "" "" "" "1" "" "00006" "{PMID:Zhong 2011:21205863}, {DOI:Zhong 2011:10.1101/gad.2006411}" "2-generation family, q affected, unaffected heterozygous carrier parents/brother" "M" "no" "United States" "" "0" "" "" "" "" "00104026" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-725A" "00177082" "" "" "" "1" "" "02552" "" "mother German, father Swiss/Ghanaian" "M" "no" "Germany;Ghana;Switzerland" "" "0" "" "" "" "73450" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00052954" "03509" "00052955" "03509" "00104026" "03381" "00177082" "00344" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00344, 03381, 03509 ## Count = 4 "{{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}}" "{{Phenotype/Diagnosis/Criteria}}" "0000039679" "03509" "00052954" "00006" "Isolated (sporadic)" "" "oral leukoplakia, nail dystrophy, abnormal skin pigmentation, bone marrow failure, developed squamous cell carcinoma of the tongue; telomere lengths <1\r\npercentile" "" "" "" "" "" "" "" "" "" "" "0000039680" "03509" "00052955" "00006" "Isolated (sporadic)" "" "oral leukoplakia, nail dystrophy, abnormal skin pigmentation, bone marrow failure; telomere lengths <1 percentile" "" "" "" "" "" "" "" "" "" "" "0000081960" "03381" "00104026" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "0000141877" "00344" "00177082" "02552" "Unknown" "" "HP:0008936\r\nHP:0002066\r\nHP:0011220\r\nHP:0008070\r\nHP:0002761\r\nHP:0001763" "02y" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000052902" "00052954" "1" "00006" "00006" "2015-10-26 22:00:06" "" "" "SEQ" "DNA" "" "" "0000052903" "00052955" "1" "00006" "00006" "2015-10-26 22:22:49" "" "" "SEQ" "DNA" "" "" "0000104497" "00104026" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000177978" "00177082" "1" "02552" "02552" "2018-08-17 14:11:42" "" "" "SEQ-NG-I" "DNA" "blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000052902" "WRAP53" "0000052903" "WRAP53" ## 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 = 59 "{{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}}" "0000082520" "1" "90" "17" "7592602" "7592602" "subst" "0" "00006" "WRAP53_000001" "g.7592602C>A" "" "{PMID:Zhong 2011:21205863}, {DOI:Zhong 2011:10.1101/gad.2006411}, {OMIM612661:0001}" "" "" "not in 760 control chromosomes" "Germline" "yes" "rs281865547" "0" "" "" "g.7689284C>A" "" "pathogenic" "" "0000082521" "2" "90" "17" "7606088" "7606088" "subst" "0.000235801" "00006" "WRAP53_000002" "g.7606088C>T" "" "{PMID:Zhong 2011:21205863}, {DOI:Zhong 2011:10.1101/gad.2006411}, {OMIM612661:0002}" "" "R398W" "not in 760 control chromosomes" "Germline" "yes" "rs281865548" "0" "" "" "g.7702770C>T" "" "pathogenic" "" "0000082522" "1" "90" "17" "7605832" "7605832" "subst" "0" "00006" "WRAP53_000003" "g.7605832C>T" "" "{PMID:Zhong 2011:21205863}, {DOI:Zhong 2011:10.1101/gad.2006411}, {OMIM612661:0003}" "" "" "not in 760 control chromosomes" "Germline" "yes" "rs281865549" "0" "" "" "g.7702514C>T" "" "pathogenic" "" "0000082523" "2" "90" "17" "7606345" "7606345" "subst" "8.12519E-6" "00006" "WRAP53_000004" "g.7606345G>A" "" "{PMID:Zhong 2011:21205863}, {DOI:Zhong 2011:10.1101/gad.2006411}, {OMIM612661:0004}" "" "" "not in 760 control chromosomes" "Germline" "yes" "rs281865550" "0" "" "" "g.7703027G>A" "" "pathogenic" "" "0000082524" "1" "10" "17" "7591722" "7591722" "subst" "0" "00006" "WRAP53_000005" "g.7591722G>C" "1/16 cases" "{PMID:Zhong 2011:21205863}, {DOI:Zhong 2011:10.1101/gad.2006411}" "" "promoter -244G>C" "" "Germline" "" "rs17883670" "0" "" "" "g.7688404G>C" "" "benign" "" "0000169386" "0" "70" "17" "7605730" "7605730" "subst" "4.06861E-6" "00587" "WRAP53_000006" "g.7605730T>C" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_018081.2(WRAP53):c.1024T>C p.(Cys342Arg)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.7702412T>C" "" "likely pathogenic" "" "0000313102" "0" "10" "17" "7606722" "7606722" "subst" "0.297995" "02325" "WRAP53_000015" "g.7606722C>G" "" "" "" "WRAP53(NM_018081.2):c.1565C>G (p.A522G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7703404C>G" "" "benign" "" "0000320002" "0" "50" "17" "7606357" "7606357" "subst" "8.12401E-6" "01943" "WRAP53_000012" "g.7606357G>A" "" "" "" "WRAP53(NM_018081.2):c.1315G>A (p.V439M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7703039G>A" "" "VUS" "" "0000320003" "0" "30" "17" "7606650" "7606650" "subst" "4.06289E-6" "01943" "WRAP53_000013" "g.7606650T>C" "" "" "" "WRAP53(NM_018081.2):c.1493T>C (p.L498P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7703332T>C" "" "likely benign" "" "0000320004" "0" "30" "17" "7606694" "7606694" "subst" "0.000519949" "01943" "WRAP53_000014" "g.7606694C>G" "" "" "" "WRAP53(NM_018081.2):c.1537C>G (p.R513G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7703376C>G" "" "likely benign" "" "0000320005" "0" "30" "17" "7606723" "7606723" "subst" "0.00179117" "01943" "WRAP53_000016" "g.7606723G>A" "" "" "" "WRAP53(NM_001143990.1):c.1566G>A (p.(Ala522=)), WRAP53(NM_018081.2):c.1566G>A (p.A522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7703405G>A" "" "likely benign" "" "0000320006" "0" "30" "17" "7592153" "7592153" "subst" "0.000353811" "01943" "WRAP53_000007" "g.7592153G>A" "" "" "" "WRAP53(NM_018081.2):c.187G>A (p.V63M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7688835G>A" "" "likely benign" "" "0000320007" "0" "30" "17" "7604965" "7604965" "subst" "0.00330537" "01943" "WRAP53_000009" "g.7604965C>T" "" "" "" "WRAP53(NM_001143990.1):c.823-10C>T (p.(=)), WRAP53(NM_018081.2):c.823-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7701647C>T" "" "likely benign" "" "0000320008" "0" "10" "17" "7605088" "7605088" "subst" "0.00203245" "01943" "WRAP53_000011" "g.7605088C>T" "" "" "" "WRAP53(NM_018081.2):c.936C>T (p.C312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7701770C>T" "" "benign" "" "0000340439" "0" "10" "17" "7592560" "7592560" "subst" "0.129505" "02327" "WRAP53_000019" "g.7592560C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7689242C>T" "" "benign" "" "0000340614" "0" "30" "17" "7606350" "7606350" "subst" "0.0144527" "02327" "WRAP53_000021" "g.7606350T>C" "" "" "" "WRAP53(NM_001143990.1):c.1308T>C (p.(Ala436=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7703032T>C" "" "likely benign" "" "0000341486" "0" "10" "17" "7606722" "7606722" "subst" "0.297995" "02327" "WRAP53_000015" "g.7606722C>G" "" "" "" "WRAP53(NM_018081.2):c.1565C>G (p.A522G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7703404C>G" "" "benign" "" "0000342787" "0" "70" "17" "7605865" "7605865" "subst" "7.53832E-5" "02327" "WRAP53_000020" "g.7605865C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7702547C>T" "" "likely pathogenic" "" "0000343270" "0" "10" "17" "7592168" "7592168" "subst" "0.197393" "02327" "WRAP53_000018" "g.7592168C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7688850C>G" "" "benign" "" "0000348156" "0" "30" "17" "7591997" "7591997" "subst" "0.00603041" "02327" "WRAP53_000017" "g.7591997C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7688679C>T" "" "likely benign" "" "0000400866" "21" "50" "17" "7605740" "7605740" "subst" "4.06812E-5" "02552" "WRAP53_000022" "g.7605740A>G" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "rs778192810" "0" "" "" "g.7702422A>G" "" "VUS" "" "0000400867" "11" "50" "17" "7606345" "7606345" "subst" "8.12519E-6" "02552" "WRAP53_000004" "g.7606345G>A" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "" "0" "" "" "g.7703027G>A" "" "VUS" "" "0000563243" "0" "30" "17" "7592361" "7592361" "subst" "9.34709E-5" "01943" "TP53_010168" "g.7592361C>A" "" "" "" "WRAP53(NM_018081.2):c.395C>A (p.T132N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7689043C>A" "" "likely benign" "" "0000563244" "0" "30" "17" "7592412" "7592412" "subst" "0.00111805" "02326" "TP53_010169" "g.7592412C>T" "" "" "" "WRAP53(NM_018081.2):c.431+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7689094C>T" "" "likely benign" "" "0000563245" "0" "50" "17" "7592597" "7592597" "subst" "4.06062E-6" "01943" "TP53_010170" "g.7592597G>C" "" "" "" "WRAP53(NM_018081.2):c.487G>C (p.E163Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7689279G>C" "" "VUS" "" "0000563246" "0" "50" "17" "7604140" "7604140" "subst" "4.06055E-6" "01943" "EFNB3_000001" "g.7604140A>G" "" "" "" "WRAP53(NM_018081.2):c.724A>G (p.T242A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7700822A>G" "" "VUS" "" "0000563247" "0" "50" "17" "7604141" "7604141" "subst" "4.06055E-6" "02325" "EFNB3_000002" "g.7604141C>T" "" "" "" "WRAP53(NM_018081.2):c.725C>T (p.T242I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7700823C>T" "" "VUS" "" "0000563248" "0" "30" "17" "7604873" "7604873" "subst" "2.84289E-5" "02326" "EFNB3_000003" "g.7604873G>A" "" "" "" "WRAP53(NM_018081.2):c.822+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7701555G>A" "" "likely benign" "" "0000563249" "0" "50" "17" "7605081" "7605081" "subst" "4.07687E-6" "02325" "EFNB3_000004" "g.7605081G>A" "" "" "" "WRAP53(NM_018081.2):c.929G>A (p.R310Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7701763G>A" "" "VUS" "" "0000563250" "0" "10" "17" "7606119" "7606119" "subst" "0.00138576" "01943" "EFNB3_000005" "g.7606119G>A" "" "" "" "WRAP53(NM_018081.2):c.1223G>A (p.G408D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7702801G>A" "" "benign" "" "0000563251" "0" "50" "17" "7606604" "7606604" "subst" "0" "01943" "EFNB3_000006" "g.7606604C>T" "" "" "" "WRAP53(NM_018081.2):c.1447C>T (p.R483C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7703286C>T" "" "VUS" "" "0000563252" "0" "10" "17" "7606639" "7606639" "subst" "0.00138143" "01943" "EFNB3_000007" "g.7606639A>G" "" "" "" "WRAP53(NM_018081.2):c.1482A>G (p.E494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7703321A>G" "" "benign" "" "0000563253" "0" "50" "17" "7606694" "7606694" "subst" "0.000519949" "02325" "WRAP53_000014" "g.7606694C>G" "" "" "" "WRAP53(NM_018081.2):c.1537C>G (p.R513G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7703376C>G" "" "VUS" "" "0000563254" "0" "10" "17" "7606798" "7606798" "subst" "0.00137544" "01943" "EFNB3_000008" "g.7606798G>T" "" "" "" "WRAP53(NM_018081.2):c.1641G>T (p.L547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7703480G>T" "" "benign" "" "0000616848" "0" "30" "17" "7604792" "7604792" "subst" "0" "01943" "EFNB3_000010" "g.7604792C>T" "" "" "" "WRAP53(NM_018081.2):c.747C>T (p.S249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7701474C>T" "" "likely benign" "" "0000616849" "0" "30" "17" "7606722" "7606722" "subst" "1.22079E-5" "01943" "EFNB3_000012" "g.7606722C>T" "" "" "" "WRAP53(NM_018081.2):c.1565C>T (p.A522V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7703404C>T" "" "likely benign" "" "0000623770" "0" "50" "17" "7605071" "7605071" "subst" "0.000394575" "01943" "EFNB3_000011" "g.7605071C>T" "" "" "" "WRAP53(NM_018081.2):c.919C>T (p.R307W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7701753C>T" "" "VUS" "" "0000658267" "0" "50" "17" "7592174" "7592174" "subst" "2.03138E-5" "02325" "TP53_010192" "g.7592174G>T" "" "" "" "WRAP53(NM_018081.2):c.208G>T (p.G70W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7688856G>T" "" "VUS" "" "0000681040" "0" "30" "17" "7604965" "7604965" "subst" "0.00330537" "01804" "WRAP53_000009" "g.7604965C>T" "" "" "" "WRAP53(NM_001143990.1):c.823-10C>T (p.(=)), WRAP53(NM_018081.2):c.823-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726699" "0" "50" "17" "7604072" "7604072" "subst" "8.12117E-6" "02325" "EFNB3_000013" "g.7604072G>A" "" "" "" "WRAP53(NM_018081.2):c.656G>A (p.R219Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726700" "0" "30" "17" "7604136" "7604136" "subst" "0.000178664" "01943" "EFNB3_000014" "g.7604136A>G" "" "" "" "WRAP53(NM_018081.2):c.720A>G (p.P240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726701" "0" "50" "17" "7605071" "7605071" "subst" "0.000394575" "02325" "EFNB3_000011" "g.7605071C>T" "" "" "" "WRAP53(NM_018081.2):c.919C>T (p.R307W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726702" "0" "10" "17" "7605088" "7605088" "subst" "0.00203245" "02326" "WRAP53_000011" "g.7605088C>T" "" "" "" "WRAP53(NM_018081.2):c.936C>T (p.C312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000726703" "0" "90" "17" "7606721" "7606721" "del" "0" "01943" "EFNB3_000015" "g.7606721del" "" "" "" "WRAP53(NM_018081.2):c.1564delG (p.A522Rfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726704" "0" "30" "17" "7606747" "7606747" "subst" "0" "01943" "EFNB3_000016" "g.7606747T>A" "" "" "" "WRAP53(NM_018081.2):c.1590T>A (p.D530E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808279" "0" "30" "17" "7592929" "7592929" "subst" "0" "01943" "TP53_010384" "g.7592929C>T" "" "" "" "WRAP53(NM_018081.2):c.552C>T (p.I184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808280" "0" "30" "17" "7606723" "7606723" "subst" "0.00179117" "02326" "WRAP53_000016" "g.7606723G>A" "" "" "" "WRAP53(NM_001143990.1):c.1566G>A (p.(Ala522=)), WRAP53(NM_018081.2):c.1566G>A (p.A522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865517" "0" "30" "17" "7606350" "7606350" "subst" "0.0144527" "01804" "WRAP53_000021" "g.7606350T>C" "" "" "" "WRAP53(NM_001143990.1):c.1308T>C (p.(Ala436=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865518" "0" "30" "17" "7606723" "7606723" "subst" "0.00179117" "01804" "WRAP53_000016" "g.7606723G>A" "" "" "" "WRAP53(NM_001143990.1):c.1566G>A (p.(Ala522=)), WRAP53(NM_018081.2):c.1566G>A (p.A522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894310" "0" "30" "17" "7592929" "7592929" "subst" "0" "02326" "TP53_010384" "g.7592929C>T" "" "" "" "WRAP53(NM_018081.2):c.552C>T (p.I184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894311" "0" "50" "17" "7606721" "7606721" "dup" "0" "02326" "EFNB3_000017" "g.7606721dup" "" "" "" "WRAP53(NM_001143992.2):c.1564dup (p.(Ala522GlyfsTer8)), WRAP53(NM_018081.2):c.1564dupG (p.A522Gfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914983" "0" "30" "17" "7592373" "7592373" "subst" "0.00340617" "02326" "TP53_010402" "g.7592373C>G" "" "" "" "WRAP53(NM_018081.2):c.407C>G (p.P136R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951048" "0" "30" "17" "7606650" "7606650" "subst" "4.06289E-6" "02326" "WRAP53_000013" "g.7606650T>C" "" "" "" "WRAP53(NM_018081.2):c.1493T>C (p.L498P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951049" "0" "30" "17" "7606671" "7606671" "subst" "0.000300591" "02326" "EFNB3_000018" "g.7606671C>T" "" "" "" "WRAP53(NM_018081.2):c.1514C>T (p.T505M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982822" "0" "50" "17" "7605066" "7605066" "subst" "4.87638E-5" "01804" "EFNB3_000019" "g.7605066C>T" "" "" "" "WRAP53(NM_001143992.2):c.914C>T (p.(Thr305Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982823" "0" "50" "17" "7605838" "7605838" "subst" "2.87224E-5" "01804" "EFNB3_000020" "g.7605838G>A" "" "" "" "WRAP53(NM_001143992.2):c.1132G>A (p.(Asp378Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982824" "0" "50" "17" "7606721" "7606721" "dup" "0" "01804" "EFNB3_000017" "g.7606721dup" "" "" "" "WRAP53(NM_001143992.2):c.1564dup (p.(Ala522GlyfsTer8)), WRAP53(NM_018081.2):c.1564dupG (p.A522Gfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003720" "0" "50" "17" "7592072" "7592072" "subst" "4.06095E-6" "01804" "TP53_010427" "g.7592072G>A" "" "" "" "WRAP53(NM_001143992.1):c.106G>A (p.(Ala36Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042207" "0" "50" "17" "7606071" "7606071" "subst" "0" "01804" "EFNB3_000021" "g.7606071T>A" "" "" "" "WRAP53(NM_001143992.2):c.1175T>A (p.(Leu392His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 WRAP53 ## Count = 59 "{{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}}" "0000082520" "00024068" "90" "492" "0" "492" "0" "c.492C>A" "r.(?)" "p.(Phe164Leu)" "2" "0000082521" "00024068" "90" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398Trp)" "9" "0000082522" "00024068" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(His376Tyr)" "8" "0000082523" "00024068" "90" "1303" "0" "1303" "0" "c.1303G>A" "r.(?)" "p.(Gly435Arg)" "10" "0000082524" "00024068" "10" "-159" "0" "-159" "0" "c.-159G>C" "r.(=)" "p.(=)" "_1" "0000169386" "00024068" "00" "1024" "0" "1024" "0" "c.1024T>C" "r.(?)" "p.(Cys342Arg)" "" "0000313102" "00024068" "10" "1565" "0" "1565" "0" "c.1565C>G" "r.(?)" "p.(Ala522Gly)" "" "0000320002" "00024068" "50" "1315" "0" "1315" "0" "c.1315G>A" "r.(?)" "p.(Val439Met)" "" "0000320003" "00024068" "30" "1493" "0" "1493" "0" "c.1493T>C" "r.(?)" "p.(Leu498Pro)" "" "0000320004" "00024068" "30" "1537" "0" "1537" "0" "c.1537C>G" "r.(?)" "p.(Arg513Gly)" "" "0000320005" "00024068" "30" "1566" "0" "1566" "0" "c.1566G>A" "r.(?)" "p.(Ala522=)" "" "0000320006" "00024068" "30" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Val63Met)" "" "0000320007" "00024068" "30" "823" "-10" "823" "-10" "c.823-10C>T" "r.(=)" "p.(=)" "" "0000320008" "00024068" "10" "936" "0" "936" "0" "c.936C>T" "r.(?)" "p.(Cys312=)" "" "0000340439" "00024068" "10" "450" "0" "450" "0" "c.450C>T" "r.(?)" "p.(Phe150=)" "" "0000340614" "00024068" "30" "1308" "0" "1308" "0" "c.1308T>C" "r.(?)" "p.(Ala436=)" "" "0000341486" "00024068" "10" "1565" "0" "1565" "0" "c.1565C>G" "r.(?)" "p.(Ala522Gly)" "" "0000342787" "00024068" "70" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Arg387Cys)" "" "0000343270" "00024068" "10" "202" "0" "202" "0" "c.202C>G" "r.(?)" "p.(Arg68Gly)" "" "0000348156" "00024068" "30" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Pro11Ser)" "" "0000400866" "00024068" "50" "1034" "0" "1034" "0" "c.1034A>G" "r.(?)" "p.(Tyr345Cys)" "" "0000400867" "00024068" "50" "1303" "0" "1303" "0" "c.1303G>A" "r.(?)" "p.(Gly435Arg)" "" "0000563243" "00024068" "30" "395" "0" "395" "0" "c.395C>A" "r.(?)" "p.(Thr132Asn)" "" "0000563244" "00024068" "30" "431" "15" "431" "15" "c.431+15C>T" "r.(=)" "p.(=)" "" "0000563245" "00024068" "50" "487" "0" "487" "0" "c.487G>C" "r.(?)" "p.(Glu163Gln)" "" "0000563246" "00024068" "50" "724" "0" "724" "0" "c.724A>G" "r.(?)" "p.(Thr242Ala)" "" "0000563247" "00024068" "50" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Thr242Ile)" "" "0000563248" "00024068" "30" "822" "6" "822" "6" "c.822+6G>A" "r.(=)" "p.(=)" "" "0000563249" "00024068" "50" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Arg310Gln)" "" "0000563250" "00024068" "10" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Gly408Asp)" "" "0000563251" "00024068" "50" "1447" "0" "1447" "0" "c.1447C>T" "r.(?)" "p.(Arg483Cys)" "" "0000563252" "00024068" "10" "1482" "0" "1482" "0" "c.1482A>G" "r.(?)" "p.(Glu494=)" "" "0000563253" "00024068" "50" "1537" "0" "1537" "0" "c.1537C>G" "r.(?)" "p.(Arg513Gly)" "" "0000563254" "00024068" "10" "1641" "0" "1641" "0" "c.1641G>T" "r.(?)" "p.(Leu547=)" "" "0000616848" "00024068" "30" "747" "0" "747" "0" "c.747C>T" "r.(?)" "p.(Ser249=)" "" "0000616849" "00024068" "30" "1565" "0" "1565" "0" "c.1565C>T" "r.(?)" "p.(Ala522Val)" "" "0000623770" "00024068" "50" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Arg307Trp)" "" "0000658267" "00024068" "50" "208" "0" "208" "0" "c.208G>T" "r.(?)" "p.(Gly70Trp)" "" "0000681040" "00024068" "30" "823" "-10" "823" "-10" "c.823-10C>T" "r.(=)" "p.(=)" "" "0000726699" "00024068" "50" "656" "0" "656" "0" "c.656G>A" "r.(?)" "p.(Arg219Gln)" "" "0000726700" "00024068" "30" "720" "0" "720" "0" "c.720A>G" "r.(?)" "p.(Pro240=)" "" "0000726701" "00024068" "50" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Arg307Trp)" "" "0000726702" "00024068" "10" "936" "0" "936" "0" "c.936C>T" "r.(?)" "p.(Cys312=)" "" "0000726703" "00024068" "90" "1564" "0" "1564" "0" "c.1564del" "r.(?)" "p.(Ala522Argfs*26)" "" "0000726704" "00024068" "30" "1590" "0" "1590" "0" "c.1590T>A" "r.(?)" "p.(Asp530Glu)" "" "0000808279" "00024068" "30" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Ile184=)" "" "0000808280" "00024068" "30" "1566" "0" "1566" "0" "c.1566G>A" "r.(?)" "p.(Ala522=)" "" "0000865517" "00024068" "30" "1308" "0" "1308" "0" "c.1308T>C" "r.(?)" "p.(Ala436=)" "" "0000865518" "00024068" "30" "1566" "0" "1566" "0" "c.1566G>A" "r.(?)" "p.(Ala522=)" "" "0000894310" "00024068" "30" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Ile184=)" "" "0000894311" "00024068" "50" "1564" "0" "1564" "0" "c.1564dup" "r.(?)" "p.(Ala522Glyfs*8)" "" "0000914983" "00024068" "30" "407" "0" "407" "0" "c.407C>G" "r.(?)" "p.(Pro136Arg)" "" "0000951048" "00024068" "30" "1493" "0" "1493" "0" "c.1493T>C" "r.(?)" "p.(Leu498Pro)" "" "0000951049" "00024068" "30" "1514" "0" "1514" "0" "c.1514C>T" "r.(?)" "p.(Thr505Met)" "" "0000982822" "00024068" "50" "914" "0" "914" "0" "c.914C>T" "r.(?)" "p.(Thr305Met)" "" "0000982823" "00024068" "50" "1132" "0" "1132" "0" "c.1132G>A" "r.(?)" "p.(Asp378Asn)" "" "0000982824" "00024068" "50" "1564" "0" "1564" "0" "c.1564dup" "r.(?)" "p.(Ala522Glyfs*8)" "" "0001003720" "00024068" "50" "106" "0" "106" "0" "c.106G>A" "r.(?)" "p.(Ala36Thr)" "" "0001042207" "00024068" "50" "1175" "0" "1175" "0" "c.1175T>A" "r.(?)" "p.(Leu392His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000052902" "0000082520" "0000052902" "0000082521" "0000052903" "0000082522" "0000052903" "0000082523" "0000104497" "0000169386" "0000177978" "0000400866" "0000177978" "0000400867"