### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = DAK)
# 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}}"
"DAK"	"dihydroxyacetone kinase 2 homolog (S. cerevisiae)"	"11"	"q12.2"	"unknown"	"NC_000011.9"	"UD_132319485672"	""	"https://www.LOVD.nl/TKFC"	""	"1"	"24552"	"26007"	"615844"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">NOTE: gene name changed from DAK to TKFC</font>\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/DAK_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">NOTE: gene name changed from DAK to TKFC</font>"	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2021-12-13 14:44:46"	"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}}"
"00006084"	"DAK"	"dihydroxyacetone kinase 2 homolog (S. cerevisiae)"	"001"	"NM_015533.3"	""	"NP_056348.2"	""	""	""	"-257"	"3984"	"1728"	"61100654"	"61116231"	""	"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}}"
"05106"	"MPD"	"myopathy, distal (MPD)"	""	""	""	""	""	"00006"	"2015-12-08 01:43:19"	""	""
"05207"	"OCA1"	"albinism, oculocutaneous, type I (OCA-1)"	""	""	""	""	""	"00006"	"2016-12-02 17:47:10"	"00006"	"2021-12-11 13:56:28"
"06155"	"TKFCD"	"Triokinase and FMN cyclase deficiency syndrome"	"AR"	"618805"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"DAK"	"06155"


## Individuals ## Do not remove or alter this header ##
## Count = 5
"{{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}}"
"00281798"	""	""	""	"2"	""	"00006"	"{PMID:Wortmann 2020:32004446}, {DOI:Wortmann 2020:10.1016/j.ajhg.2020.01.005}"	"2-generation family, 2 affected sisters, unaffected heterozygous carrier parents"	"F"	"yes"	"India"	""	"0"	""	""	"Gujarati"	"Fam1PatII1"
"00281799"	""	""	"00281798"	"1"	""	"00006"	"{PMID:Wortmann 2020:32004446}, {DOI:Wortmann 2020:10.1016/j.ajhg.2020.01.005}"	""	"F"	"yes"	"India"	""	"0"	""	""	"Gujarati"	"Fam1PatII2"
"00281800"	""	""	""	"2"	""	"00006"	"{PMID:Wortmann 2020:32004446}, {DOI:Wortmann 2020:10.1016/j.ajhg.2020.01.005}"	"2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents"	"F"	"yes"	"Turkey"	""	"0"	""	""	""	"Fam2PatII1"
"00281801"	""	""	"00281800"	"1"	""	"00006"	"{PMID:Wortmann 2020:32004446}, {DOI:Wortmann 2020:10.1016/j.ajhg.2020.01.005}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	"Fam2PatII2"
"00407086"	""	""	""	"1"	""	"04178"	""	"3-generation family, one affected child (AR), father (carrier), mother (carrier), grandfather (carrier), grandmother (normal), mother\'s father (carrier), and grandmother (normal)"	"M"	"yes"	"Egypt"	""	"0"	""	""	""	"Familial albinism_F1"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}"	"{{diseaseid}}"
"00281798"	"05106"
"00281799"	"05106"
"00281800"	"05106"
"00281801"	"05106"
"00407086"	"05207"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 05106, 05207, 06155
## Count = 5
"{{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}}"
"0000216376"	"05106"	"00281798"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., multisystem disease, congenital nuclear cataracts, developmental delay, motor delay"	""	""	""	""	""	""	""	""	"cataract"
"0000216377"	"05106"	"00281799"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., congenital cataracts"	""	""	""	""	""	""	""	""	"cataract"
"0000216378"	"05106"	"00281800"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., delayed speech development, learning difficulties, no cataracts"	""	""	""	""	""	""	""	""	""
"0000216379"	"05106"	"00281801"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., global developmental delay"	""	""	""	""	""	""	""	""	""
"0000299473"	"05207"	"00407086"	"04178"	"Familial, autosomal recessive"	""	"HP:0007663 Reduced visual acuity\r\nHP:0002286 fair hair \r\nHP:0002227 White eyelashes\r\nHP:0002226 White eyebrow\r\nHP:0001010 hypopigmentation of the skin\r\nHP:0001107 ocular albinism \r\nHP:0000316 hypertelorism\r\nHP:0000414 bulbous nose \r\nHP:0000369 low-set ears \r\nHP:0000767 pectus excavatum \r\nHP:0001188 clenched fist \r\nHP:0001762 bilateral talipes equinovarus (TEV) deformity \r\nHP:0008081 left pesplanovalgus deformity \r\nHP:0006380 bilateral knee flexion deformity \r\nHP:0001627 congenital heart disease  \r\nHP:0001057 Aplasia cutis congenita  \r\nHP:0006714 absent sternum \r\nHP:0001639 hypertrophic cardiomyopathy"	""	""	""	"Alaa Fayez"	""	""	""	"Albinism, oculocutaneous, type IA (MIM;203100)"	""


## Screenings ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000282944"	"00281798"	"1"	"00006"	"00006"	"2020-02-03 19:33:41"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000282945"	"00281799"	"1"	"00006"	"00006"	"2020-02-03 19:33:41"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000282946"	"00281800"	"1"	"00006"	"00006"	"2020-02-03 19:33:41"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000282947"	"00281801"	"1"	"00006"	"00006"	"2020-02-03 19:33:41"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000408333"	"00407086"	"1"	"04178"	"04178"	"2022-04-06 09:47:13"	"04178"	"2022-04-06 11:11:10"	"SEQ-NG"	"DNA"	"White blood cells"	"WES followed by Sanger sequencing"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{geneid}}"
"0000282944"	"DAK"
"0000282945"	"DAK"
"0000282946"	"DAK"
"0000282947"	"DAK"
"0000408333"	"DAK"
"0000408333"	"TYR"


## 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 = 37
"{{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}}"
"0000314549"	"0"	"10"	"11"	"61133391"	"61133391"	"subst"	"0"	"02326"	"TMEM138_000001"	"g.61133391G>A"	""	""	""	"TMEM138(NM_016464.5):c.129-126G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61365919G>A"	""	"benign"	""
"0000314550"	"0"	"10"	"11"	"61133649"	"61133649"	"subst"	"0.00827262"	"02326"	"TMEM138_000002"	"g.61133649G>A"	""	""	""	"TMEM138(NM_016464.4):c.261G>A (p.V87=), TMEM138(NM_016464.5):c.261G>A (p.V87=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61366177G>A"	""	"benign"	""
"0000316672"	"0"	"10"	"11"	"61133649"	"61133649"	"subst"	"0.00827262"	"01943"	"TMEM138_000002"	"g.61133649G>A"	""	""	""	"TMEM138(NM_016464.4):c.261G>A (p.V87=), TMEM138(NM_016464.5):c.261G>A (p.V87=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61366177G>A"	""	"benign"	""
"0000322256"	"0"	"70"	"11"	"61094272"	"61094272"	"subst"	"0"	"01804"	"DDB1_000001"	"g.61094272C>T"	""	""	""	"DDB1(NM_001923.4):c.643G>A (p.(Glu215Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.61326800C>T"	""	"likely pathogenic"	""
"0000638681"	"3"	"90"	"11"	"61113875"	"61113875"	"subst"	"2.45357E-5"	"00006"	"DAK_000002"	"g.61113875G>T"	""	"{PMID:Wortmann 2020:32004446}, {DOI:Wortmann 2020:10.1016/j.ajhg.2020.01.005}"	""	""	""	"Germline"	"yes"	"rs547013163"	"0"	""	""	"g.61346403G>T"	""	"pathogenic (recessive)"	""
"0000638682"	"3"	"90"	"11"	"61113875"	"61113875"	"subst"	"2.45357E-5"	"00006"	"DAK_000002"	"g.61113875G>T"	""	"{PMID:Wortmann 2020:32004446}, {DOI:Wortmann 2020:10.1016/j.ajhg.2020.01.005}"	""	""	""	"Germline"	"yes"	"rs547013163"	"0"	""	""	"g.61346403G>T"	""	"pathogenic (recessive)"	""
"0000638683"	"3"	"90"	"11"	"61112824"	"61112824"	"subst"	"0"	"00006"	"DAK_000001"	"g.61112824G>A"	""	"{PMID:Wortmann 2020:32004446}, {DOI:Wortmann 2020:10.1016/j.ajhg.2020.01.005}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.61345352G>A"	""	"pathogenic (recessive)"	""
"0000638684"	"3"	"90"	"11"	"61112824"	"61112824"	"subst"	"0"	"00006"	"DAK_000001"	"g.61112824G>A"	""	"{PMID:Wortmann 2020:32004446}, {DOI:Wortmann 2020:10.1016/j.ajhg.2020.01.005}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.61345352G>A"	""	"pathogenic (recessive)"	""
"0000691098"	"0"	"30"	"11"	"61091529"	"61091529"	"subst"	"8.12183E-6"	"01943"	"DAK_000003"	"g.61091529G>A"	""	""	""	"DDB1(NM_001923.4):c.843C>T (p.F281=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000845226"	"3"	"50"	"11"	"61109327"	"61109327"	"subst"	"0.00015037"	"04178"	"DAK_000004"	"g.61109327G>A"	""	""	""	""	"heterozygous in father, mother, grandfather and grand mother"	"Germline"	"yes"	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000853045"	"0"	"30"	"11"	"61131964"	"61131964"	"subst"	"0.000426392"	"02326"	"CYBASC3_000001"	"g.61131964T>A"	""	""	""	"TMEM138(NM_016464.4):c.102T>A (p.T34=), TMEM138(NM_016464.5):c.102T>A (p.T34=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000862599"	"0"	"30"	"11"	"61131964"	"61131964"	"subst"	"0.000426392"	"01943"	"CYBASC3_000001"	"g.61131964T>A"	""	""	""	"TMEM138(NM_016464.4):c.102T>A (p.T34=), TMEM138(NM_016464.5):c.102T>A (p.T34=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000889995"	"0"	"50"	"11"	"61093129"	"61093129"	"subst"	"0"	"02327"	"DAK_000005"	"g.61093129T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000949720"	"0"	"50"	"11"	"61081782"	"61081782"	"subst"	"1.24162E-5"	"02325"	"DAK_000006"	"g.61081782G>C"	""	""	""	"DDB1(NM_001923.5):c.1587C>G (p.I529M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979670"	"0"	"30"	"11"	"61068412"	"61068412"	"subst"	"8.12526E-6"	"01804"	"DAK_000007"	"g.61068412G>A"	""	""	""	"DDB1(NM_001923.5):c.3216-8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000979671"	"0"	"30"	"11"	"61070233"	"61070233"	"subst"	"1.63404E-5"	"01804"	"DAK_000008"	"g.61070233G>A"	""	""	""	"DDB1(NM_001923.5):c.2943-10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000979672"	"0"	"50"	"11"	"61081359"	"61081359"	"subst"	"8.12354E-6"	"01804"	"DAK_000009"	"g.61081359G>T"	""	""	""	"DDB1(NM_001923.5):c.1836C>A (p.(Phe612Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979673"	"0"	"50"	"11"	"61091613"	"61091613"	"subst"	"0"	"01804"	"DAK_000010"	"g.61091613C>A"	""	""	""	"DDB1(NM_001923.5):c.763-4G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979674"	"0"	"50"	"11"	"61091614"	"61091614"	"subst"	"0"	"01804"	"DAK_000011"	"g.61091614C>A"	""	""	""	"DDB1(NM_001923.5):c.763-5G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979675"	"0"	"30"	"11"	"61106765"	"61106765"	"subst"	"0.00254543"	"01804"	"CYBASC3_000004"	"g.61106765G>A"	""	""	""	"TKFC(NM_015533.4):c.344G>A (p.(Arg115Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000979676"	"0"	"50"	"11"	"61106876"	"61106876"	"subst"	"0.000103049"	"01804"	"CYBASC3_000005"	"g.61106876G>C"	""	""	""	"TKFC(NM_015533.4):c.455G>C (p.(Arg152Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979677"	"0"	"30"	"11"	"61111319"	"61111319"	"subst"	"0"	"01804"	"CYBASC3_000006"	"g.61111319T>C"	""	""	""	"TKFC(NM_015533.4):c.983-9T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000979678"	"0"	"30"	"11"	"61111733"	"61111733"	"subst"	"0.000203859"	"01804"	"CYBASC3_000007"	"g.61111733C>T"	""	""	""	"TKFC(NM_015533.4):c.1228C>T (p.(Arg410Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000979679"	"0"	"50"	"11"	"61120544"	"61120544"	"subst"	"9.34549E-5"	"01804"	"CYBASC3_000008"	"g.61120544G>T"	""	""	""	"CYB561A3(NM_153611.4):c.461C>A (p.(Pro154His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000999180"	"0"	"50"	"11"	"61076501"	"61076501"	"subst"	"0"	"01804"	"DAK_000012"	"g.61076501G>A"	""	""	""	"DDB1(NM_001923.4):c.2615C>T (p.(Ser872Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000999181"	"0"	"50"	"11"	"61081049"	"61081049"	"subst"	"4.06068E-6"	"01804"	"DAK_000013"	"g.61081049T>C"	""	""	""	"DDB1(NM_001923.4):c.1991A>G (p.(His664Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000999182"	"0"	"50"	"11"	"61096858"	"61096858"	"subst"	"0"	"01804"	"CYBASC3_000009"	"g.61096858G>A"	""	""	""	"DDB1(NM_001923.4):c.526C>T (p.(Pro176Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000999183"	"0"	"70"	"11"	"61097044"	"61097044"	"subst"	"0"	"01804"	"CYBASC3_000010"	"g.61097044G>A"	""	""	""	"DDB1(NM_001923.4):c.340C>T (p.(Arg114Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000999184"	"0"	"50"	"11"	"61109957"	"61109957"	"subst"	"3.65491E-5"	"01804"	"CYBASC3_000011"	"g.61109957G>A"	""	""	""	"DAK(NM_015533.3):c.680G>A (p.(Arg227His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001014846"	"0"	"50"	"11"	"61067657"	"61067657"	"subst"	"0"	"02325"	"DAK_000014"	"g.61067657G>A"	""	""	""	"DDB1(NM_001923.5):c.3374C>T (p.T1125I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001026036"	"0"	"50"	"11"	"61067639"	"61067639"	"subst"	"8.13809E-6"	"02325"	"DAK_000015"	"g.61067639T>C"	""	""	""	"DDB1(NM_001923.5):c.3392A>G (p.K1131R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038535"	"0"	"50"	"11"	"61067666"	"61067666"	"subst"	"4.08908E-6"	"01804"	"DAK_000016"	"g.61067666C>T"	""	""	""	"DDB1(NM_001923.5):c.3365G>A (p.(Arg1122Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038536"	"0"	"30"	"11"	"61070049"	"61070049"	"subst"	"0.000605494"	"01804"	"DAK_000017"	"g.61070049C>A"	""	""	""	"DDB1(NM_001923.5):c.3112+5G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001038537"	"0"	"30"	"11"	"61070945"	"61070945"	"subst"	"0"	"01804"	"DAK_000018"	"g.61070945G>C"	""	""	""	"DDB1(NM_001923.5):c.2833-318C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001038538"	"0"	"30"	"11"	"61081819"	"61081819"	"subst"	"0.000211516"	"01804"	"DAK_000019"	"g.61081819T>C"	""	""	""	"DDB1(NM_001923.5):c.1550A>G (p.(Tyr517Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001038539"	"0"	"50"	"11"	"61089859"	"61089859"	"subst"	"0"	"01804"	"DAK_000020"	"g.61089859C>A"	""	""	""	"DDB1(NM_001923.5):c.1031G>T (p.(Gly344Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038540"	"0"	"50"	"11"	"61093166"	"61093166"	"subst"	"0"	"01804"	"DAK_000021"	"g.61093166C>T"	""	""	""	"DDB1(NM_001923.5):c.679G>A (p.(Gly227Arg))"	"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 DAK
## Count = 37
"{{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}}"
"0000314549"	"00006084"	"10"	"21144"	"0"	"21144"	"0"	"c.*19416G>A"	"r.(=)"	"p.(=)"	""
"0000314550"	"00006084"	"10"	"21402"	"0"	"21402"	"0"	"c.*19674G>A"	"r.(=)"	"p.(=)"	""
"0000316672"	"00006084"	"10"	"21402"	"0"	"21402"	"0"	"c.*19674G>A"	"r.(=)"	"p.(=)"	""
"0000322256"	"00006084"	"70"	"-6639"	"0"	"-6639"	"0"	"c.-6639C>T"	"r.(?)"	"p.(=)"	""
"0000638681"	"00006084"	"90"	"1628"	"0"	"1628"	"0"	"c.1628G>T"	"r.(?)"	"p.(Arg543Ile)"	""
"0000638682"	"00006084"	"90"	"1628"	"0"	"1628"	"0"	"c.1628G>T"	"r.(?)"	"p.(Arg543Ile)"	""
"0000638683"	"00006084"	"90"	"1333"	"0"	"1333"	"0"	"c.1333G>A"	"r.(?)"	"p.(Gly445Ser)"	""
"0000638684"	"00006084"	"90"	"1333"	"0"	"1333"	"0"	"c.1333G>A"	"r.(?)"	"p.(Gly445Ser)"	""
"0000691098"	"00006084"	"30"	"-9382"	"0"	"-9382"	"0"	"c.-9382G>A"	"r.(?)"	"p.(=)"	""
"0000845226"	"00006084"	"50"	"598"	"0"	"598"	"0"	"c.598G>A"	"r.(?)"	"p.(Val200Ile)"	""
"0000853045"	"00006084"	"30"	"19717"	"0"	"19717"	"0"	"c.*17989T>A"	"r.(=)"	"p.(=)"	""
"0000862599"	"00006084"	"30"	"19717"	"0"	"19717"	"0"	"c.*17989T>A"	"r.(=)"	"p.(=)"	""
"0000889995"	"00006084"	"50"	"-7782"	"0"	"-7782"	"0"	"c.-7782T>C"	"r.(?)"	"p.(=)"	""
"0000949720"	"00006084"	"50"	"-19129"	"0"	"-19129"	"0"	"c.-19129G>C"	"r.(?)"	"p.(=)"	""
"0000979670"	"00006084"	"30"	"-32499"	"0"	"-32499"	"0"	"c.-32499G>A"	"r.(?)"	"p.(=)"	""
"0000979671"	"00006084"	"30"	"-30678"	"0"	"-30678"	"0"	"c.-30678G>A"	"r.(?)"	"p.(=)"	""
"0000979672"	"00006084"	"50"	"-19552"	"0"	"-19552"	"0"	"c.-19552G>T"	"r.(?)"	"p.(=)"	""
"0000979673"	"00006084"	"50"	"-9298"	"0"	"-9298"	"0"	"c.-9298C>A"	"r.(?)"	"p.(=)"	""
"0000979674"	"00006084"	"50"	"-9297"	"0"	"-9297"	"0"	"c.-9297C>A"	"r.(?)"	"p.(=)"	""
"0000979675"	"00006084"	"30"	"344"	"0"	"344"	"0"	"c.344G>A"	"r.(?)"	"p.(Arg115Gln)"	""
"0000979676"	"00006084"	"50"	"455"	"0"	"455"	"0"	"c.455G>C"	"r.(?)"	"p.(Arg152Pro)"	""
"0000979677"	"00006084"	"30"	"983"	"-9"	"983"	"-9"	"c.983-9T>C"	"r.(=)"	"p.(=)"	""
"0000979678"	"00006084"	"30"	"1228"	"0"	"1228"	"0"	"c.1228C>T"	"r.(?)"	"p.(Arg410Cys)"	""
"0000979679"	"00006084"	"50"	"8297"	"0"	"8297"	"0"	"c.*6569G>T"	"r.(=)"	"p.(=)"	""
"0000999180"	"00006084"	"50"	"-24410"	"0"	"-24410"	"0"	"c.-24410G>A"	"r.(?)"	"p.(=)"	""
"0000999181"	"00006084"	"50"	"-19862"	"0"	"-19862"	"0"	"c.-19862T>C"	"r.(?)"	"p.(=)"	""
"0000999182"	"00006084"	"50"	"-4053"	"0"	"-4053"	"0"	"c.-4053G>A"	"r.(?)"	"p.(=)"	""
"0000999183"	"00006084"	"70"	"-3867"	"0"	"-3867"	"0"	"c.-3867G>A"	"r.(?)"	"p.(=)"	""
"0000999184"	"00006084"	"50"	"680"	"0"	"680"	"0"	"c.680G>A"	"r.(?)"	"p.(Arg227His)"	""
"0001014846"	"00006084"	"50"	"-33254"	"0"	"-33254"	"0"	"c.-33254G>A"	"r.(?)"	"p.(=)"	""
"0001026036"	"00006084"	"50"	"-33272"	"0"	"-33272"	"0"	"c.-33272T>C"	"r.(?)"	"p.(=)"	""
"0001038535"	"00006084"	"50"	"-33245"	"0"	"-33245"	"0"	"c.-33245C>T"	"r.(?)"	"p.(=)"	""
"0001038536"	"00006084"	"30"	"-30862"	"0"	"-30862"	"0"	"c.-30862C>A"	"r.(?)"	"p.(=)"	""
"0001038537"	"00006084"	"30"	"-29966"	"0"	"-29966"	"0"	"c.-29966G>C"	"r.(?)"	"p.(=)"	""
"0001038538"	"00006084"	"30"	"-19092"	"0"	"-19092"	"0"	"c.-19092T>C"	"r.(?)"	"p.(=)"	""
"0001038539"	"00006084"	"50"	"-11052"	"0"	"-11052"	"0"	"c.-11052C>A"	"r.(?)"	"p.(=)"	""
"0001038540"	"00006084"	"50"	"-7745"	"0"	"-7745"	"0"	"c.-7745C>T"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{variantid}}"
"0000282944"	"0000638681"
"0000282945"	"0000638682"
"0000282946"	"0000638683"
"0000282947"	"0000638684"
"0000408333"	"0000845226"