### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COG5) # 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}}" "COG5" "component of oligomeric golgi complex 5" "7" "q31" "unknown" "NG_028095.1" "UD_132118353382" "" "http://www.LOVD.nl/COG5" "" "1" "14857" "10466" "606821" "1" "1" "1" "1" "The establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/COG5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-09-05 00:00:00" "00006" "2014-10-23 06:21:18" "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}}" "00023967" "COG5" "transcript variant 1" "002" "NM_006348.3" "" "NP_006339.3" "" "" "" "-525" "4355" "2583" "107204959" "106842189" "00006" "2014-10-23 06:18:41" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03369" "CDG2I" "glycosylation, congenital disorder of, type IIi (CDG-2I)" "" "613612" "" "" "" "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}}" "COG5" "03369" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00289353" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00294246" "" "" "" "39" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294247" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294248" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294249" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294250" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305127" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308716" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00361543" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "12DG2577" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00289353" "00198" "00294246" "00198" "00294247" "00198" "00294248" "00198" "00294249" "00198" "00294250" "00198" "00305127" "00198" "00308716" "00000" "00361543" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 03369 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000222972" "00198" "00289353" "01164" "Unknown" "" "Areflexia of upper limbs (HP:0012046); Seizures (HP:0001250); Abnormality of nervous system physiology (HP:0012638); Reduced tendon reflexes (HP:0001315); Growth abnormality (HP:0001507); Intrauterine growth retardation (HP:0001511); Abnormality of the respiratory system (HP:0002086); Areflexia of lower limbs (HP:0002522); Respiratory failure (HP:0002878)" "" "" "" "" "" "" "" "" "" "" "" "0000256948" "00139" "00361543" "00006" "Familial, autosomal recessive" "6y" "syndromic; global developmental delay, CL/P, microcephaly, spasticity, strabismus, microphthalus, dysmorphism, ACC, absence of cingulate gyrus and colpocephaly." "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000290523" "00289353" "1" "01164" "01164" "2020-03-05 10:32:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000295414" "00294246" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295415" "00294247" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295416" "00294248" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295417" "00294249" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295418" "00294250" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306256" "00305127" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309861" "00308716" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000362771" "00361543" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000309861" "COG5" "0000362771" "COG5" ## 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 = 46 "{{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}}" "0000248763" "0" "10" "7" "107002806" "107002806" "subst" "0.542955" "02325" "COG5_000002" "g.107002806A>G" "" "" "" "COG5(NM_001161520.2):c.895T>C (p.F299L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107362361A>G" "" "benign" "" "0000249103" "0" "10" "7" "107198405" "107198405" "subst" "0.425942" "02325" "COG5_000004" "g.107198405A>T" "" "" "" "COG5(NM_001161520.2):c.234+16T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107557960A>T" "" "benign" "" "0000266876" "0" "10" "7" "107052929" "107052930" "del" "0" "02325" "COG5_000003" "g.107052929_107052930del" "" "" "" "COG5(NM_001161520.2):c.669+18_669+19delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107412484_107412485del" "" "benign" "" "0000273756" "0" "70" "7" "106876911" "106876913" "del" "0" "01943" "COG5_000001" "g.106876911_106876913del" "" "" "" "COG5(NM_001161520.1):c.2171_2173delCTG (p.A724del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107236466_107236468del" "" "likely pathogenic" "" "0000530325" "0" "30" "7" "106898824" "106898824" "subst" "0" "01804" "DUS4L_000003" "g.106898824G>A" "" "" "" "COG5(NM_001161520.1):c.1673C>T (p.(Ser558Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107258379G>A" "" "likely benign" "" "0000530326" "0" "50" "7" "106921803" "106921803" "subst" "2.03194E-5" "01943" "DUS4L_000004" "g.106921803G>T" "" "" "" "COG5(NM_001161520.1):c.1610C>A (p.A537D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107281358G>T" "" "VUS" "" "0000530327" "0" "30" "7" "106938638" "106938638" "subst" "0.00350335" "01804" "DUS4L_000005" "g.106938638T>C" "" "" "" "COG5(NM_001161520.1):c.1355A>G (p.(His452Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107298193T>C" "" "likely benign" "" "0000530329" "0" "50" "7" "106938689" "106938689" "subst" "0.000536455" "01943" "DUS4L_000007" "g.106938689T>C" "" "" "" "COG5(NM_001161520.1):c.1304A>G (p.Q435R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107298244T>C" "" "VUS" "" "0000530330" "0" "30" "7" "106964956" "106964956" "subst" "0.000899479" "01804" "DUS4L_000008" "g.106964956G>A" "" "" "" "COG5(NM_001161520.1):c.1130C>T (p.(Pro377Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107324511G>A" "" "likely benign" "" "0000530331" "0" "30" "7" "107053065" "107053065" "subst" "0" "01804" "DUS4L_000009" "g.107053065T>C" "" "" "" "COG5(NM_001161520.1):c.644A>G (p.(Gln215Arg)), COG5(NM_006348.5):c.551A>G (p.Q184R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107412620T>C" "" "likely benign" "" "0000530332" "0" "10" "7" "107188719" "107188719" "subst" "0.270366" "02325" "DUS4L_000010" "g.107188719G>T" "" "" "" "COG5(NM_001161520.2):c.347+4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107548274G>T" "" "benign" "" "0000530333" "0" "90" "7" "107194786" "107194786" "del" "0" "01943" "DUS4L_000011" "g.107194786del" "" "" "" "COG5(NM_001161520.1):c.330delT (p.V111Lfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107554341del" "" "pathogenic" "" "0000530334" "0" "30" "7" "107198453" "107198453" "subst" "4.06147E-6" "01804" "DUS4L_000012" "g.107198453T>G" "" "" "" "COG5(NM_001161520.1):c.295A>C (p.(Ile99Leu)), COG5(NM_006348.5):c.202A>C (p.I68L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107558008T>G" "" "likely benign" "" "0000530336" "0" "30" "7" "107204416" "107204417" "ins" "0" "01804" "DUS4L_000014" "g.107204416_107204417insGG" "" "" "" "COG5(NM_001161520.1):c.19_20insCC (p.(Arg7ProfsTer36))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107563971_107563972insGG" "" "likely benign" "" "0000530339" "0" "30" "7" "107204420" "107204420" "subst" "0" "01943" "DUS4L_000017" "g.107204420G>C" "" "" "" "COG5(NM_001161520.1):c.15C>G (p.G5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107563975G>C" "" "likely benign" "" "0000530340" "0" "30" "7" "107204424" "107204424" "subst" "0" "01943" "DUS4L_000018" "g.107204424A>C" "" "" "" "COG5(NM_001161520.1):c.11T>G (p.V4G, p.(Val4Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107563979A>C" "" "likely benign" "" "0000530341" "0" "30" "7" "107204424" "107204424" "subst" "0" "01804" "DUS4L_000018" "g.107204424A>C" "" "" "" "COG5(NM_001161520.1):c.11T>G (p.V4G, p.(Val4Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107563979A>C" "" "likely benign" "" "0000530342" "0" "30" "7" "107204428" "107204429" "del" "0" "01804" "DUS4L_000019" "g.107204428_107204429del" "" "" "" "COG5(NM_001161520.1):c.6_7del (p.(Trp3GlyfsTer20))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107563983_107563984del" "" "likely benign" "" "0000610602" "0" "30" "7" "107188782" "107188782" "subst" "0" "01804" "DUS4L_000021" "g.107188782G>A" "" "" "" "COG5(NM_001161520.1):c.386-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107548337G>A" "" "likely benign" "" "0000610603" "0" "30" "7" "107204416" "107204417" "ins" "0" "01804" "DUS4L_000024" "g.107204416_107204417insGC" "" "" "" "COG5(NM_001161520.1):c.18_19insGC (p.(Arg7AlafsTer36))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107563971_107563972insGC" "" "likely benign" "" "0000610604" "0" "30" "7" "107204416" "107204417" "ins" "0" "01804" "DUS4L_000025" "g.107204416_107204417insGCC" "" "" "" "COG5(NM_001161520.1):c.18_19insGGC (p.(Gly6dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107563971_107563972insGCC" "" "likely benign" "" "0000610605" "0" "30" "7" "107204416" "107204417" "ins" "0" "01804" "DUS4L_000026" "g.107204416_107204417insGGCCCC" "" "" "" "COG5(NM_001161520.1):c.18_19insGGGGCC (p.(Gly6_Arg7insGlyAla))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107563971_107563972insGGCCCC" "" "likely benign" "" "0000610606" "0" "30" "7" "107204416" "107204416" "dup" "0" "01804" "DUS4L_000023" "g.107204416dup" "" "" "" "COG5(NM_001161520.1):c.19dup (p.(Arg7ProfsTer17))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107563971dup" "" "likely benign" "" "0000621795" "0" "50" "7" "107198449" "107198449" "subst" "1.21847E-5" "02325" "DUS4L_000022" "g.107198449C>T" "" "" "" "COG5(NM_001161520.2):c.206G>A (p.S69N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107558004C>T" "" "VUS" "" "0000647206" "3" "50" "7" "106964880" "106964880" "subst" "0" "01164" "COG5_000005" "g.106964880C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.107324435C>T" "" "VUS" "ACMG" "0000652103" "1" "30" "7" "106888867" "106888867" "subst" "0.0323591" "03575" "COG5_000006" "g.106888867G>A" "39/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "39 heterozygous, no homozygous; {DB:CLININrs35581984}" "Germline" "" "rs35581984" "0" "" "" "g.107248422G>A" "" "likely benign" "" "0000652104" "1" "50" "7" "106888868" "106888868" "subst" "0.00179587" "03575" "COG5_000007" "g.106888868A>G" "10/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 10 heterozygous, no homozygous; {DB:CLININrs142433421}" "Germline" "" "rs142433421" "0" "" "" "g.107248423A>G" "" "VUS" "" "0000652105" "1" "30" "7" "106938653" "106938653" "subst" "0.00476291" "03575" "DUS4L_000006" "g.106938653T>C" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs41276187}" "Germline" "" "rs41276187" "0" "" "" "g.107298208T>C" "" "likely benign" "" "0000652106" "1" "50" "7" "106938689" "106938689" "subst" "0.000536455" "03575" "DUS4L_000007" "g.106938689T>C" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs189560910}" "Germline" "" "rs189560910" "0" "" "" "g.107298244T>C" "" "VUS" "" "0000652107" "1" "50" "7" "107167769" "107167769" "subst" "0.00226646" "03575" "COG5_000008" "g.107167769T>C" "7/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 7 heterozygous; {DB:CLININrs79413133}" "Germline" "" "rs79413133" "0" "" "" "g.107527324T>C" "" "VUS" "" "0000655695" "0" "30" "7" "107204349" "107204349" "subst" "2.06644E-5" "02325" "DUS4L_000028" "g.107204349G>A" "" "" "" "COG5(NM_001161520.2):c.-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107563904G>A" "" "likely benign" "" "0000669944" "3" "50" "7" "107167769" "107167769" "subst" "0.00226646" "03575" "COG5_000008" "g.107167769T>C" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs79413133}" "Germline" "" "rs79413133" "0" "" "" "g.107527324T>C" "" "VUS" "" "0000677924" "0" "50" "7" "107188596" "107188596" "subst" "8.12301E-6" "02325" "DUS4L_000029" "g.107188596T>C" "" "" "" "COG5(NM_001161520.2):c.377A>G (p.N126S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677925" "0" "50" "7" "107204433" "107204433" "subst" "5.02431E-5" "01943" "DUS4L_000030" "g.107204433A>G" "" "" "" "COG5(NM_001161520.1):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684763" "0" "30" "7" "106888868" "106888868" "subst" "0.00179587" "00004" "COG5_000007" "g.106888868A>G" "frequency 0.021" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.107248423A>G" "" "likely benign" "" "0000763145" "3" "90" "7" "106964978" "106964978" "subst" "0" "00006" "COG5_000009" "g.106964978A>T" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "" "" "0" "" "" "g.107324533A>T" "" "pathogenic" "ACMG" "0000802826" "0" "50" "7" "106843966" "106843966" "subst" "0.000264279" "01943" "DUS4L_000031" "g.106843966G>A" "" "" "" "COG5(NM_006348.3):c.2578C>T (p.Q860*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802827" "0" "50" "7" "106924075" "106924075" "subst" "8.53437E-5" "02325" "DUS4L_000032" "g.106924075C>T" "" "" "" "COG5(NM_006348.5):c.1416G>A (p.P472=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851365" "0" "30" "7" "106888918" "106888918" "subst" "0.00145913" "01943" "DUS4L_000034" "g.106888918A>G" "" "" "" "COG5(NM_001161520.1):c.1869T>C (p.A623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851366" "0" "30" "7" "106938662" "106938662" "subst" "2.84458E-5" "01943" "DUS4L_000035" "g.106938662G>A" "" "" "" "COG5(NM_001161520.1):c.1331C>T (p.T444I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860579" "0" "30" "7" "106851577" "106851577" "subst" "4.0624E-6" "01943" "DUS4L_000033" "g.106851577C>T" "" "" "" "COG5(NM_001161520.1):c.2355G>A (p.T785=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887539" "0" "50" "7" "107053065" "107053065" "subst" "0" "02325" "DUS4L_000009" "g.107053065T>C" "" "" "" "COG5(NM_001161520.1):c.644A>G (p.(Gln215Arg)), COG5(NM_006348.5):c.551A>G (p.Q184R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887540" "0" "50" "7" "107198453" "107198453" "subst" "4.06147E-6" "02325" "DUS4L_000012" "g.107198453T>G" "" "" "" "COG5(NM_001161520.1):c.295A>C (p.(Ile99Leu)), COG5(NM_006348.5):c.202A>C (p.I68L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977454" "0" "30" "7" "106888958" "106888958" "dup" "0" "01804" "DUS4L_000020" "g.106888958dup" "" "" "" "COG5(NM_006348.5):c.1750-3dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996125" "0" "30" "7" "106888856" "106888856" "subst" "0" "01804" "DUS4L_000036" "g.106888856T>C" "" "" "" "COG5(NM_006348.3):c.1931A>G (p.(Gln644Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036049" "0" "70" "7" "106938586" "106938591" "del" "0" "01804" "DUS4L_000037" "g.106938586_106938591del" "" "" "" "COG5(NM_006348.5):c.1313_1313+5del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 COG5 ## Count = 46 "{{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}}" "0000248763" "00023967" "10" "988" "0" "988" "0" "c.988T>C" "r.(?)" "p.(Phe330Leu)" "" "0000249103" "00023967" "10" "327" "16" "327" "16" "c.327+16T>A" "r.(=)" "p.(=)" "" "0000266876" "00023967" "10" "762" "18" "762" "19" "c.762+18_762+19del" "r.(=)" "p.(=)" "" "0000273756" "00023967" "70" "2171" "0" "2173" "0" "c.2171_2173del" "r.(?)" "p.(Ala724del)" "" "0000530325" "00023967" "30" "1673" "0" "1673" "0" "c.1673C>T" "r.(?)" "p.(Ser558Phe)" "" "0000530326" "00023967" "50" "1610" "0" "1610" "0" "c.1610C>A" "r.(?)" "p.(Ala537Asp)" "" "0000530327" "00023967" "30" "1355" "0" "1355" "0" "c.1355A>G" "r.(?)" "p.(His452Arg)" "" "0000530329" "00023967" "50" "1304" "0" "1304" "0" "c.1304A>G" "r.(?)" "p.(Gln435Arg)" "" "0000530330" "00023967" "30" "1130" "0" "1130" "0" "c.1130C>T" "r.(?)" "p.(Pro377Leu)" "" "0000530331" "00023967" "30" "644" "0" "644" "0" "c.644A>G" "r.(?)" "p.(Gln215Arg)" "" "0000530332" "00023967" "10" "440" "4" "440" "4" "c.440+4C>A" "r.spl?" "p.?" "" "0000530333" "00023967" "90" "330" "0" "330" "0" "c.330del" "r.(?)" "p.(Val111LeufsTer23)" "" "0000530334" "00023967" "30" "295" "0" "295" "0" "c.295A>C" "r.(?)" "p.(Ile99Leu)" "" "0000530336" "00023967" "30" "19" "0" "20" "0" "c.19_20insCC" "r.(?)" "p.(Arg7ProfsTer36)" "" "0000530339" "00023967" "30" "15" "0" "15" "0" "c.15C>G" "r.(?)" "p.(Gly5=)" "" "0000530340" "00023967" "30" "11" "0" "11" "0" "c.11T>G" "r.(?)" "p.(Val4Gly)" "" "0000530341" "00023967" "30" "11" "0" "11" "0" "c.11T>G" "r.(?)" "p.(Val4Gly)" "" "0000530342" "00023967" "30" "6" "0" "7" "0" "c.6_7del" "r.(?)" "p.(Trp3GlyfsTer20)" "" "0000610602" "00023967" "30" "386" "-5" "386" "-5" "c.386-5C>T" "r.spl?" "p.?" "" "0000610603" "00023967" "30" "18" "0" "19" "0" "c.18_19insGC" "r.(?)" "p.(Arg7AlafsTer36)" "" "0000610604" "00023967" "30" "18" "0" "19" "0" "c.18_19insGGC" "r.(?)" "p.(Gly6dup)" "" "0000610605" "00023967" "30" "18" "0" "19" "0" "c.18_19insGGGGCC" "r.(?)" "p.(Gly6_Arg7insGlyAla)" "" "0000610606" "00023967" "30" "19" "0" "19" "0" "c.19dup" "r.(?)" "p.(Arg7ProfsTer17)" "" "0000621795" "00023967" "50" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Ser100Asn)" "" "0000647206" "00023967" "50" "1201" "5" "1201" "5" "c.1201+5G>A" "r.(?)" "p.(?)" "" "0000652103" "00023967" "30" "1920" "0" "1920" "0" "c.1920C>T" "r.(=)" "p.(=)" "" "0000652104" "00023967" "50" "1919" "0" "1919" "0" "c.1919T>C" "r.(?)" "p.(Ile640Thr)" "" "0000652105" "00023967" "30" "1340" "0" "1340" "0" "c.1340A>G" "r.(?)" "p.(Tyr447Cys)" "" "0000652106" "00023967" "50" "1304" "0" "1304" "0" "c.1304A>G" "r.(?)" "p.(Gln435Arg)" "" "0000652107" "00023967" "50" "544" "0" "544" "0" "c.544A>G" "r.(?)" "p.(Ile182Val)" "" "0000655695" "00023967" "30" "86" "0" "86" "0" "c.86C>T" "r.(?)" "p.(Pro29Leu)" "" "0000669944" "00023967" "50" "544" "0" "544" "0" "c.544A>G" "r.(?)" "p.(Ile182Val)" "" "0000677924" "00023967" "50" "470" "0" "470" "0" "c.470A>G" "r.(?)" "p.(Asn157Ser)" "" "0000677925" "00023967" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000684763" "00023967" "30" "1919" "0" "1919" "0" "c.1919T>C" "r.(?)" "p.(Ile640Thr)" "" "0000763145" "00023967" "90" "1120" "-12" "1120" "-12" "c.1120-12T>A" "r.spl" "p.(Asp374Phefs*40)" "" "0000802826" "00023967" "50" "2578" "0" "2578" "0" "c.2578C>T" "r.(?)" "p.(Gln860*)" "" "0000802827" "00023967" "50" "1509" "0" "1509" "0" "c.1509G>A" "r.(?)" "p.(Pro503=)" "" "0000851365" "00023967" "30" "1869" "0" "1869" "0" "c.1869T>C" "r.(?)" "p.(Ala623=)" "" "0000851366" "00023967" "30" "1331" "0" "1331" "0" "c.1331C>T" "r.(?)" "p.(Thr444Ile)" "" "0000860579" "00023967" "30" "2355" "0" "2355" "0" "c.2355G>A" "r.(?)" "p.(Thr785=)" "" "0000887539" "00023967" "50" "644" "0" "644" "0" "c.644A>G" "r.(?)" "p.(Gln215Arg)" "" "0000887540" "00023967" "50" "295" "0" "295" "0" "c.295A>C" "r.(?)" "p.(Ile99Leu)" "" "0000977454" "00023967" "30" "1843" "-3" "1843" "-3" "c.1843-3dup" "r.spl?" "p.?" "" "0000996125" "00023967" "30" "1931" "0" "1931" "0" "c.1931A>G" "r.(?)" "p.(Gln644Arg)" "" "0001036049" "00023967" "70" "1406" "0" "1406" "5" "c.1406_1406+5del" "r.(?)" "p.(Tyr468_Asp469del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000290523" "0000647206" "0000295414" "0000652103" "0000295415" "0000652104" "0000295416" "0000652105" "0000295417" "0000652106" "0000295418" "0000652107" "0000306256" "0000669944" "0000309861" "0000684763" "0000362771" "0000763145"