### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = COG8)
# 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}}"
"COG8"	"component of oligomeric golgi complex 8"	"16"	"q22.1"	"unknown"	"NG_009013.1"	"UD_132118438486"	""	"http://www.LOVD.nl/COG8"	""	"1"	"18623"	"84342"	"606979"	"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/COG8_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2010-04-29 00:00:00"	"00006"	"2014-10-23 06:11:24"	"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}}"
"00005453"	"COG8"	"component of oligomeric golgi complex 8"	"001"	"NM_032382.4"	""	"NP_115758.3"	""	""	""	"-71"	"2424"	"1839"	"69373526"	"69362524"	""	"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"
"03013"	"CDG2H"	"glycosylation, congenital disorder of, type IIh (CDG-2H)"	""	"611182"	""	""	""	"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}}"
"COG8"	"00139"
"COG8"	"03013"


## 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}}"
"00291531"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00291531"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03013
## Count = 0


## 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}}"
"0000292699"	"00291531"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"


## 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 = 18
"{{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}}"
"0000248946"	"0"	"10"	"16"	"69364443"	"69364443"	"subst"	"0.259377"	"02325"	"COG8_000002"	"g.69364443A>G"	""	""	""	"COG8(NM_032382.5):c.*26+273T>C, PDF(NM_022341.2):c.31T>C (p.W11R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69330540A>G"	""	"benign"	""
"0000266883"	"0"	"10"	"16"	"69373414"	"69373414"	"subst"	"0.280991"	"02325"	"COG8_000008"	"g.69373414T>C"	""	""	""	"COG8(NM_032382.5):c.42A>G (p.T14=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69339511T>C"	""	"benign"	""
"0000324850"	"0"	"30"	"16"	"69362947"	"69362947"	"subst"	"0.000245398"	"01804"	"COG8_000001"	"g.69362947T>C"	""	""	""	"PDF(NM_022341.1):c.710A>G (p.(Tyr237Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69329044T>C"	""	"likely benign"	""
"0000324853"	"0"	"50"	"16"	"69368426"	"69368426"	"subst"	"0"	"01804"	"COG8_000005"	"g.69368426T>G"	""	""	""	"COG8(NM_032382.4):c.1411A>C (p.(Lys471Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69334523T>G"	""	"VUS"	""
"0000324856"	"0"	"50"	"16"	"69374245"	"69374245"	"dup"	"0"	"01804"	"NIP7_000001"	"g.69374245dup"	""	""	""	"NIP7(NM_001199434.1):c.282+6_282+7insG (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69340342dup"	""	"VUS"	""
"0000558889"	"0"	"30"	"16"	"69373442"	"69373442"	"subst"	"2.89975E-5"	"01804"	"COG8_000010"	"g.69373442G>A"	""	""	""	"COG8(NM_032382.4):c.14C>T (p.(Ala5Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69339539G>A"	""	"likely benign"	""
"0000558891"	"0"	"30"	"16"	"69374186"	"69374186"	"subst"	"8.12559E-6"	"01804"	"COG8_000012"	"g.69374186A>C"	""	""	""	"NIP7(NM_001199434.1):c.233A>C (p.(Lys78Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69340283A>C"	""	"likely benign"	""
"0000558892"	"0"	"30"	"16"	"69377396"	"69377396"	"subst"	"1.21823E-5"	"01804"	"COG8_000013"	"g.69377396T>G"	""	""	""	"TMED6(NM_144676.3):c.637A>C (p.(Ile213Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69343493T>G"	""	"likely benign"	""
"0000616098"	"0"	"50"	"16"	"69370442"	"69370442"	"subst"	"0"	"01804"	"COG8_000014"	"g.69370442A>G"	""	""	""	"COG8(NM_032382.4):c.551T>C (p.(Leu184Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69336539A>G"	""	"VUS"	""
"0000649388"	"1"	"50"	"16"	"69368758"	"69368758"	"subst"	"0.000138141"	"03575"	"COG8_000015"	"g.69368758C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs142169776}"	"Germline"	""	"rs142169776"	"0"	""	""	"g.69334855C>T"	""	"VUS"	""
"0000680642"	"0"	"30"	"16"	"69364742"	"69364742"	"subst"	"0"	"01943"	"COG8_000016"	"g.69364742C>T"	""	""	""	"COG8(NM_032382.4):c.1839G>A (p.*613=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000807552"	"0"	"50"	"16"	"69369185"	"69369185"	"subst"	"4.111E-6"	"02325"	"COG8_000017"	"g.69369185T>A"	""	""	""	"COG8(NM_032382.5):c.652A>T (p.T218S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000854602"	"0"	"50"	"16"	"69362974"	"69362974"	"subst"	"0"	"02325"	"COG8_000018"	"g.69362974A>G"	""	""	""	"COG8(NM_032382.5):c.*135T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000854603"	"0"	"50"	"16"	"69368746"	"69368746"	"subst"	"4.06402E-6"	"02325"	"COG8_000019"	"g.69368746C>T"	""	""	""	"COG8(NM_032382.5):c.1091G>A (p.R364Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982015"	"0"	"50"	"16"	"69368807"	"69368808"	"del"	"0"	"01804"	"COG8_000022"	"g.69368807_69368808del"	""	""	""	"COG8(NM_032382.5):c.1033_1034del (p.(Leu345AlafsTer17))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001002511"	"0"	"30"	"16"	"69369128"	"69369128"	"subst"	"8.13359E-6"	"01804"	"COG8_000023"	"g.69369128C>T"	""	""	""	"COG8(NM_032382.4):c.709G>A (p.(Val237Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001041287"	"0"	"50"	"16"	"69363024"	"69363024"	"subst"	"0"	"01804"	"COG8_000024"	"g.69363024G>A"	""	""	""	"COG8(NM_001379266.1):c.1472C>T (p.(Ser491Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001041288"	"0"	"50"	"16"	"69369157"	"69369157"	"subst"	"2.44652E-5"	"01804"	"COG8_000025"	"g.69369157C>T"	""	""	""	"COG8(NM_032382.5):c.680G>A (p.(Arg227His))"	"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 COG8
## Count = 18
"{{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}}"
"0000248946"	"00005453"	"10"	"1865"	"273"	"1865"	"273"	"c.*26+273T>C"	"r.(=)"	"p.(=)"	""
"0000266883"	"00005453"	"10"	"42"	"0"	"42"	"0"	"c.42A>G"	"r.(?)"	"p.(Thr14=)"	""
"0000324850"	"00005453"	"30"	"2001"	"0"	"2001"	"0"	"c.*162A>G"	"r.(=)"	"p.(=)"	""
"0000324853"	"00005453"	"50"	"1411"	"0"	"1411"	"0"	"c.1411A>C"	"r.(?)"	"p.(Lys471Gln)"	""
"0000324856"	"00005453"	"50"	"-787"	"0"	"-787"	"0"	"c.-787dup"	"r.(?)"	"p.(=)"	""
"0000558889"	"00005453"	"30"	"14"	"0"	"14"	"0"	"c.14C>T"	"r.(?)"	"p.(Ala5Val)"	""
"0000558891"	"00005453"	"30"	"-731"	"0"	"-731"	"0"	"c.-731T>G"	"r.(?)"	"p.(=)"	""
"0000558892"	"00005453"	"30"	"-3941"	"0"	"-3941"	"0"	"c.-3941A>C"	"r.(?)"	"p.(=)"	""
"0000616098"	"00005453"	"50"	"551"	"0"	"551"	"0"	"c.551T>C"	"r.(?)"	"p.(Leu184Pro)"	""
"0000649388"	"00005453"	"50"	"1079"	"0"	"1079"	"0"	"c.1079G>A"	"r.(?)"	"p.(Gly360Glu)"	""
"0000680642"	"00005453"	"30"	"1839"	"0"	"1839"	"0"	"c.1839G>A"	"r.(?)"	"p.(Ter613=)"	""
"0000807552"	"00005453"	"50"	"652"	"0"	"652"	"0"	"c.652A>T"	"r.(?)"	"p.(Thr218Ser)"	""
"0000854602"	"00005453"	"50"	"1974"	"0"	"1974"	"0"	"c.*135T>C"	"r.(=)"	"p.(=)"	""
"0000854603"	"00005453"	"50"	"1091"	"0"	"1091"	"0"	"c.1091G>A"	"r.(?)"	"p.(Arg364Gln)"	""
"0000982015"	"00005453"	"50"	"1033"	"0"	"1034"	"0"	"c.1033_1034del"	"r.(?)"	"p.(Leu345Alafs*17)"	""
"0001002511"	"00005453"	"30"	"709"	"0"	"709"	"0"	"c.709G>A"	"r.(?)"	"p.(Val237Ile)"	""
"0001041287"	"00005453"	"50"	"1924"	"0"	"1924"	"0"	"c.*85C>T"	"r.(=)"	"p.(=)"	""
"0001041288"	"00005453"	"50"	"680"	"0"	"680"	"0"	"c.680G>A"	"r.(?)"	"p.(Arg227His)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{variantid}}"
"0000292699"	"0000649388"