### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TSC1)
# 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}}"
"TSC1"	"TSC complex subunit 1"	"9"	"q34"	"unknown"	"LRG_486"	"UD_144440025317"	""	""	""	"1"	"12362"	"7248"	"605284"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-12-08 10:21:07"	""	""	"00005"	"2021-08-23 16:18:52"


## 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}}"
"00000057"	"TSC1"	"transcript variant 1"	"011"	"NM_000368.4"	""	"NP_000359.1"	""	""	""	"-234"	"8382"	"3495"	"132944633"	"132891348"	"00001"	"2020-12-08 10:21:44"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00037"	"TSC"	"Tuberous sclerosis complex"	""	""	""	""	""	"00001"	"2020-12-08 10:20:52"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"TSC1"	"00037"


## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Remarks_Non_Public}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Origin/Ethnic}}"	"{{Individual/Origin/Population}}"	"{{Individual/Gender}}"
"00000234"	""	""	""	"1"	""	"00002"	"{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}"	""	""	"Malaysia"	""	""	"M"
"00000235"	""	""	""	"1"	""	"00002"	"{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}"	""	""	"Malaysia"	""	""	"F"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00000234"	"00037"
"00000235"	"00037"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00037
## Count = 2
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000119"	"00037"	"00000234"	"00002"	""	"Familial, autosomal dominant"
"0000000120"	"00037"	"00000235"	"00002"	""	"Familial, autosomal dominant"


## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"
"0000000249"	"00000234"	"1"	"00002"	"00002"	"2020-12-08 10:41:55"	""	""	"MLPA;PCRlr;SEQ"	"DNA"
"0000000250"	"00000235"	"1"	"00002"	"00002"	"2020-12-08 10:53:42"	""	""	"MLPA;PCRlr;SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000000249"	"TSC1"
"0000000250"	"TSC1"


## 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 = 6
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/dbSNP}}"
"0000001157"	"0"	"90"	"9"	"132928808"	"132928808"	"subst"	"0"	"00002"	"TSC1_000001"	"g.132928808C>T"	"1/4"	"{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {dbSNP:rs141736779}, {ClinVar:466150}"	"R22Q"	""	"rs141736779"
"0000001158"	"0"	"90"	"9"	"132902724"	"132902724"	"subst"	"0"	"00002"	"TSC1_000002"	"g.132902724G>A"	"2/4"	"{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {dbSNP:rs397514783}, {ClinVar:64712}"	"Q758X"	""	"rs397514783"
"0000001159"	"0"	"90"	"9"	"132906053"	"132906053"	"subst"	"0"	"00002"	"TSC1_000003"	"g.132906053G>A"	"1/4"	"{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {dbSNP:rs118203542}, {ClinVar:48796}"	"R509X"	""	"rs118203542"
"0000001160"	"0"	"90"	"9"	"132903785"	"132903785"	"subst"	"0"	"00002"	"TSC1_000004"	"g.132903785G>A"	"1/3"	"{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {dbSNP:rs118203631}, {ClinVar:48885}"	"R692X"	""	"rs118203631"
"0000001161"	"0"	"90"	"9"	"132902724"	"132902724"	"subst"	"0"	"00002"	"TSC1_000002"	"g.132902724G>A"	"1/3"	"{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {dbSNP:rs397514783}, {ClinVar:64712}"	"Q758X"	""	"rs397514783"
"0000001162"	"0"	"90"	"9"	"132907361"	"132907361"	"subst"	"0"	"00002"	"TSC1_000005"	"g.132907361T>C"	"1/3"	"{PMID:Nur Farrah Dila Ismail et al. (2017):28087349}, {dbSNP:rs753199284}, {ClinVar:534492}"	"M425V"	""	"rs753199284"


## 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 TSC1
## Count = 6
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/Exon}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Published_as}}"	"{{VariantOnTranscript/GVS/Function}}"	"{{VariantOnTranscript/VariantOnTranscript}}"
"0000001157"	"00000057"	"90"	"65"	"0"	"65"	"0"	"c.65G>A"	"3"	"p.(Arg22Gln)"	"r.(?)"	""	""	"{ClinVar:466150}"
"0000001158"	"00000057"	"90"	"2272"	"0"	"2272"	"0"	"c.2272C>T"	"18"	"p.(Gln758*)"	"r.(?)"	""	""	"{ClinVar:64712}"
"0000001159"	"00000057"	"90"	"1525"	"0"	"1525"	"0"	"c.1525C>T"	"15"	"p.(Arg509*)"	"r.(?)"	""	""	"{ClinVar:48796}"
"0000001160"	"00000057"	"90"	"2074"	"0"	"2074"	"0"	"c.2074C>T"	"17"	"p.(Arg692*)"	"r.(?)"	""	""	"{ClinVar:48885}"
"0000001161"	"00000057"	"90"	"2272"	"0"	"2272"	"0"	"c.2272C>T"	"18"	"p.(Gln758*)"	"r.(?)"	""	""	"{ClinVar:64712}"
"0000001162"	"00000057"	"90"	"1273"	"0"	"1273"	"0"	"c.1273A>G"	"13"	"p.(Met425Val)"	"r.(?)"	""	""	"{ClinVar:534492}"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{variantid}}"
"0000000249"	"0000001157"
"0000000249"	"0000001158"
"0000000249"	"0000001159"
"0000000250"	"0000001160"
"0000000250"	"0000001161"
"0000000250"	"0000001162"