### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = COG7)
# 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}}"
"COG7"	"component of oligomeric golgi complex 7"	"16"	"p12.2"	"unknown"	"NG_021287.1"	"UD_132118424987"	""	"http://www.LOVD.nl/COG7"	""	"1"	"18622"	"91949"	"606978"	"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/COG7_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2010-04-29 00:00:00"	"00006"	"2014-10-23 06:13:59"	"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}}"
"00005452"	"COG7"	"component of oligomeric golgi complex 7"	"001"	"NM_153603.3"	""	"NP_705831.1"	""	""	""	"-197"	"2740"	"2313"	"23464512"	"23399814"	""	"0000-00-00 00:00:00"	""	""


## 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}}"
"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"
"02791"	"CDG2E"	"glycosylation, congenital disorder of, type IIe (CDG-2E)"	"AR"	"608779"	""	""	""	"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 = 2
"{{geneid}}"	"{{diseaseid}}"
"COG7"	"00139"
"COG7"	"02791"


## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00050458"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00050458"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 02791
## Count = 1
"{{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}}"
"0000037070"	"00198"	"00050458"	"00006"	"Isolated (sporadic)"	""	"microcephaly, intrauterine growth retardation, global developmental delay, abnormal size of the palpebral fissures, prominent nose, short 4th metacarpal, clinodactyly of the 5th finger, cutaneous syndactyly of toes, aggressive behavior"	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000050403"	"00050458"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 0


## 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 = 27
"{{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}}"
"0000079383"	"0"	"90"	"16"	"21530207"	"29332245"	"del"	"0"	"00006"	"CLN3_000009"	"g.21530207_29332245del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"decreased gene dosage"	"De novo"	""	""	"0"	""	""	"g.21518886_29320924del"	""	"pathogenic"	""
"0000252628"	"0"	"90"	"16"	"23456367"	"23456367"	"subst"	"0.000154316"	"02326"	"COG7_000006"	"g.23456367A>G"	""	""	""	"COG7(NM_153603.3):c.435+2T>C (p.?), COG7(NM_153603.4):c.435+2T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23445046A>G"	""	"pathogenic"	""
"0000253895"	"0"	"10"	"16"	"23457307"	"23457307"	"del"	"0"	"01943"	"COG7_000007"	"g.23457307del"	""	""	""	"COG7(NM_153603.3):c.170-9delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23445986del"	""	"benign"	""
"0000266882"	"0"	"10"	"16"	"23403510"	"23403510"	"subst"	"0"	"02325"	"COG7_000001"	"g.23403510G>A"	""	""	""	"COG7(NM_153603.4):c.2146+191C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23392189G>A"	""	"benign"	""
"0000324668"	"0"	"50"	"16"	"23436148"	"23436148"	"subst"	"0"	"01804"	"COG7_000003"	"g.23436148G>A"	""	""	""	"COG7(NM_153603.3):c.931C>T (p.(Leu311Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23424827G>A"	""	"VUS"	""
"0000324671"	"0"	"50"	"16"	"23456367"	"23456367"	"subst"	"0.000154316"	"01804"	"COG7_000006"	"g.23456367A>G"	""	""	""	"COG7(NM_153603.3):c.435+2T>C (p.?), COG7(NM_153603.4):c.435+2T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23445046A>G"	""	"VUS"	""
"0000349626"	"0"	"50"	"16"	"23400272"	"23400272"	"subst"	"2.43992E-5"	"02327"	"COG7_000008"	"g.23400272G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23388951G>A"	""	"VUS"	""
"0000557528"	"0"	"30"	"16"	"23409437"	"23409437"	"subst"	"0.000105676"	"01943"	"COG7_000009"	"g.23409437G>T"	""	""	""	"COG7(NM_153603.3):c.1817C>A (p.A606D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23398116G>T"	""	"likely benign"	""
"0000557530"	"0"	"50"	"16"	"23428357"	"23428357"	"subst"	"0"	"01804"	"COG7_000010"	"g.23428357C>A"	""	""	""	"COG7(NM_153603.3):c.1223G>T (p.(Arg408Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23417036C>A"	""	"VUS"	""
"0000557531"	"0"	"30"	"16"	"23436244"	"23436244"	"subst"	"0.00124045"	"01943"	"COG7_000011"	"g.23436244C>T"	""	""	""	"COG7(NM_153603.3):c.835G>A (p.V279I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23424923C>T"	""	"likely benign"	""
"0000557534"	"0"	"50"	"16"	"23464206"	"23464206"	"subst"	"3.25357E-5"	"01804"	"COG7_000012"	"g.23464206G>A"	""	""	""	"COG7(NM_153603.3):c.110C>T (p.(Ala37Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23452885G>A"	""	"VUS"	""
"0000623421"	"0"	"90"	"16"	"23456367"	"23456367"	"subst"	"0.000154316"	"01943"	"COG7_000006"	"g.23456367A>G"	""	""	""	"COG7(NM_153603.3):c.435+2T>C (p.?), COG7(NM_153603.4):c.435+2T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23445046A>G"	""	"pathogenic"	""
"0000657791"	"0"	"50"	"16"	"23428412"	"23428412"	"subst"	"0"	"01943"	"COG7_000013"	"g.23428412C>T"	""	""	""	"COG7(NM_153603.3):c.1168G>A (p.E390K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23417091C>T"	""	"VUS"	""
"0000657792"	"0"	"90"	"16"	"23453803"	"23453804"	"del"	"0"	"02325"	"COG7_000014"	"g.23453803_23453804del"	""	""	""	"COG7(NM_153603.4):c.598_599delGC (p.A200Cfs*13)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23442482_23442483del"	""	"pathogenic"	""
"0000725658"	"0"	"50"	"16"	"23400248"	"23400248"	"subst"	"1.21905E-5"	"01943"	"COG7_000015"	"g.23400248T>C"	""	""	""	"COG7(NM_153603.3):c.2306A>G (p.N769S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000725659"	"0"	"30"	"16"	"23403795"	"23403795"	"subst"	"0.000552275"	"01943"	"COG7_000016"	"g.23403795C>T"	""	""	""	"COG7(NM_153603.3):c.2052G>A (p.S684=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000725660"	"0"	"50"	"16"	"23417560"	"23417560"	"subst"	"0.000263987"	"01943"	"COG7_000017"	"g.23417560T>C"	""	""	""	"COG7(NM_153603.3):c.1499A>G (p.Y500C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000807243"	"0"	"30"	"16"	"23403834"	"23403834"	"subst"	"0.000178673"	"01943"	"COG7_000018"	"g.23403834C>T"	""	""	""	"COG7(NM_153603.3):c.2013G>A (p.L671=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000807244"	"0"	"30"	"16"	"23428358"	"23428358"	"subst"	"0"	"01943"	"COG7_000019"	"g.23428358T>G"	""	""	""	"COG7(NM_153603.3):c.1222A>C (p.R408=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000807245"	"0"	"30"	"16"	"23444860"	"23444860"	"del"	"0.000312721"	"01943"	"COG7_000020"	"g.23444860del"	""	""	""	"COG7(NM_153603.3):c.810+6delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000864678"	"0"	"30"	"16"	"23436179"	"23436179"	"subst"	"0.000276364"	"01943"	"COG7_000021"	"g.23436179G>A"	""	""	""	"COG7(NM_153603.3):c.900C>T (p.N300=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000864679"	"0"	"30"	"16"	"23453879"	"23453879"	"subst"	"0.000109641"	"01943"	"COG7_000022"	"g.23453879C>A"	""	""	""	"COG7(NM_153603.3):c.523G>T (p.V175L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000864680"	"0"	"50"	"16"	"23456398"	"23456398"	"subst"	"0.000666028"	"01943"	"COG7_000023"	"g.23456398C>T"	""	""	""	"COG7(NM_153603.3):c.406G>A (p.A136T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000914563"	"0"	"10"	"16"	"23400194"	"23400194"	"subst"	"0.200248"	"02325"	"COG7_000024"	"g.23400194G>A"	""	""	""	"COG7(NM_153603.4):c.*47C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000981781"	"0"	"30"	"16"	"23404548"	"23404548"	"subst"	"1.22188E-5"	"01804"	"COG7_000025"	"g.23404548G>A"	""	""	""	"COG7(NM_153603.4):c.2002+6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981782"	"0"	"50"	"16"	"23421684"	"23421684"	"subst"	"8.14943E-6"	"01804"	"COG7_000026"	"g.23421684A>T"	""	""	""	"COG7(NM_153603.4):c.1410-3T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040966"	"0"	"50"	"16"	"23421646"	"23421646"	"subst"	"1.62534E-5"	"01804"	"COG7_000027"	"g.23421646C>T"	""	""	""	"COG7(NM_153603.4):c.1445G>A (p.(Cys482Tyr))"	"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 COG7
## Count = 27
"{{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}}"
"0000079383"	"00005452"	"00"	"-5867930"	"0"	"1872347"	"0"	"c.-5867930_*1870034del"	"r.0?"	"p.0?"	""
"0000252628"	"00005452"	"90"	"435"	"2"	"435"	"2"	"c.435+2T>C"	"r.spl?"	"p.?"	""
"0000253895"	"00005452"	"10"	"170"	"-9"	"170"	"-9"	"c.170-9del"	"r.(=)"	"p.(=)"	""
"0000266882"	"00005452"	"10"	"2146"	"191"	"2146"	"191"	"c.2146+191C>T"	"r.(=)"	"p.(=)"	""
"0000324668"	"00005452"	"50"	"931"	"0"	"931"	"0"	"c.931C>T"	"r.(?)"	"p.(Leu311Phe)"	""
"0000324671"	"00005452"	"50"	"435"	"2"	"435"	"2"	"c.435+2T>C"	"r.spl?"	"p.?"	""
"0000349626"	"00005452"	"50"	"2282"	"0"	"2282"	"0"	"c.2282C>T"	"r.(?)"	"p.(Thr761Ile)"	""
"0000557528"	"00005452"	"30"	"1817"	"0"	"1817"	"0"	"c.1817C>A"	"r.(?)"	"p.(Ala606Asp)"	""
"0000557530"	"00005452"	"50"	"1223"	"0"	"1223"	"0"	"c.1223G>T"	"r.(?)"	"p.(Arg408Ile)"	""
"0000557531"	"00005452"	"30"	"835"	"0"	"835"	"0"	"c.835G>A"	"r.(?)"	"p.(Val279Ile)"	""
"0000557534"	"00005452"	"50"	"110"	"0"	"110"	"0"	"c.110C>T"	"r.(?)"	"p.(Ala37Val)"	""
"0000623421"	"00005452"	"90"	"435"	"2"	"435"	"2"	"c.435+2T>C"	"r.spl?"	"p.?"	""
"0000657791"	"00005452"	"50"	"1168"	"0"	"1168"	"0"	"c.1168G>A"	"r.(?)"	"p.(Glu390Lys)"	""
"0000657792"	"00005452"	"90"	"598"	"0"	"599"	"0"	"c.598_599del"	"r.(?)"	"p.(Ala200CysfsTer13)"	""
"0000725658"	"00005452"	"50"	"2306"	"0"	"2306"	"0"	"c.2306A>G"	"r.(?)"	"p.(Asn769Ser)"	""
"0000725659"	"00005452"	"30"	"2052"	"0"	"2052"	"0"	"c.2052G>A"	"r.(?)"	"p.(Ser684=)"	""
"0000725660"	"00005452"	"50"	"1499"	"0"	"1499"	"0"	"c.1499A>G"	"r.(?)"	"p.(Tyr500Cys)"	""
"0000807243"	"00005452"	"30"	"2013"	"0"	"2013"	"0"	"c.2013G>A"	"r.(?)"	"p.(Leu671=)"	""
"0000807244"	"00005452"	"30"	"1222"	"0"	"1222"	"0"	"c.1222A>C"	"r.(?)"	"p.(Arg408=)"	""
"0000807245"	"00005452"	"30"	"810"	"6"	"810"	"6"	"c.810+6del"	"r.(=)"	"p.(=)"	""
"0000864678"	"00005452"	"30"	"900"	"0"	"900"	"0"	"c.900C>T"	"r.(?)"	"p.(Asn300=)"	""
"0000864679"	"00005452"	"30"	"523"	"0"	"523"	"0"	"c.523G>T"	"r.(?)"	"p.(Val175Leu)"	""
"0000864680"	"00005452"	"50"	"406"	"0"	"406"	"0"	"c.406G>A"	"r.(?)"	"p.(Ala136Thr)"	""
"0000914563"	"00005452"	"10"	"2360"	"0"	"2360"	"0"	"c.*47C>T"	"r.(=)"	"p.(=)"	""
"0000981781"	"00005452"	"30"	"2002"	"6"	"2002"	"6"	"c.2002+6C>T"	"r.(=)"	"p.(=)"	""
"0000981782"	"00005452"	"50"	"1410"	"-3"	"1410"	"-3"	"c.1410-3T>A"	"r.spl?"	"p.?"	""
"0001040966"	"00005452"	"50"	"1445"	"0"	"1445"	"0"	"c.1445G>A"	"r.(?)"	"p.(Cys482Tyr)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{variantid}}"
"0000050403"	"0000079383"