### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = IDH1)
# 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}}"
"IDH1"	"isocitrate dehydrogenase (NADP(+)) 1"	"2"	"q34"	"unknown"	"LRG_610"	"UD_144423037243"	""	""	""	"1"	"5382"	"3417"	"147700"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2021-02-22 12:45:07"	""	""	"00006"	"2021-09-05 14:56:28"


## 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}}"
"00000179"	"IDH1"	"cytosolic, transcript variant 2"	"002"	"NM_001282386.1"	""	"NP_001269315.1"	""	""	""	"-206"	"2097"	"1245"	"208254458"	"208236227"	"00001"	"2021-02-22 12:45:07"	""	""


## 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}}"
"00023"	"-"	"Gliomas"	""	""	"brain"	""	""	"00001"	"2020-11-16 12:25:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"IDH1"	"00023"


## 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}}"
"00000454"	""	""	""	"1"	""	"00002"	"{PMID:Abdul Aziz Mohamed Yusoff et al. (2016):28125199}"	""	""	"Malaysia"	"Malay"	""	""
"00000455"	""	""	""	"1"	""	"00002"	"{PMID:Abdul Aziz Mohamed Yusoff et al. (2016):28125199}"	""	""	"Malaysia"	"Chinese"	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00000454"	"00023"
"00000455"	"00023"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00023
## Count = 2
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000146"	"00023"	"00000454"	"00002"	"Brain Tumor"	""
"0000000147"	"00023"	"00000455"	"00002"	"Brain tumor"	""


## 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}}"
"0000000493"	"00000454"	"1"	"00002"	"00002"	"2021-02-24 10:05:02"	""	""	"PCRm;SEQ"	"DNA"
"0000000494"	"00000455"	"1"	"00002"	"00002"	"2021-02-24 10:16:16"	""	""	"PCRm;SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000000493"	"IDH1"
"0000000494"	"IDH1"


## 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 = 2
"{{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}}"
"0000002148"	"0"	"90"	"2"	"208248388"	"208248388"	"subst"	"0"	"00002"	"IDH1_000001"	"g.208248388C>T"	"13/40"	"{PMID:Abdul Aziz Mohamed Yusoff et al. (2016):28125199}, {dbSNP:rs121913500}, {OMIM:147700:0001}, {ClinVar:156444}"	""	""	"rs121913500"
"0000002149"	"0"	"90"	"2"	"208248388"	"208248388"	"subst"	"0"	"00002"	"IDH1_000001"	"g.208248388C>T"	"1/40"	"{PMID:Abdul Aziz Mohamed Yusoff et al. (2016):28125199}, {dbSNP:rs121913500}, {OMIM:147700:0001}, {ClinVar:156444}"	""	""	"rs121913500"


## 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 IDH1
## Count = 2
"{{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/VariantOnTranscript}}"
"0000002148"	"00000179"	"90"	"395"	"0"	"395"	"0"	"c.395G>A"	""	"p.(Arg132His)"	"r.(?)"	""	"{ClinVar:156444}"
"0000002149"	"00000179"	"90"	"395"	"0"	"395"	"0"	"c.395G>A"	""	"p.(Arg132His)"	"r.(?)"	""	"{ClinVar:156444}"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000000493"	"0000002148"
"0000000494"	"0000002149"