### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = BRAF)
# 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}}"
"BRAF"	"B-Raf proto-oncogene, serine/threonine kinase"	"7"	"q34"	"unknown"	"LRG_299"	"UD_144410193285"	""	""	""	"1"	"1097"	"673"	"164757"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-12-14 11:36:12"	""	""	"00005"	"2021-08-30 14:14:22"


## 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}}"
"00000066"	"BRAF"	"transcript variant 1"	"002"	"NM_004333.5"	""	"NP_004324.2"	""	""	""	"-225"	"4335"	"2301"	"140924928"	"140732563"	"00001"	"2020-12-14 11:46:17"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00028"	"CRC"	"colorectal , cancer"	""	""	""	""	""	"00001"	"2020-11-25 14:13:05"	"00001"	"2020-12-14 10:52:44"
"00152"	"-"	"Brain Tumor"	""	""	"brain"	""	""	"00001"	"2021-07-11 15:52:16"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"BRAF"	"00028"
"BRAF"	"00152"


## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{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}}"
"00000256"	""	""	""	"1"	""	"00002"	"Chai Boon Lee et al. 2019 (https://medic.upm.edu.my/upload/dokumen/2019100109012514_MJMHS_0054.pdf)"	""	""	"Malaysia"	""	""	"M"
"00000257"	""	""	""	"1"	""	"00002"	"{PMID:Wai Kien Yip et al. (2013):23992303}"	""	""	"Malaysia"	""	""	""
"00000775"	""	""	""	"1"	""	"00004"	"{PMID:A A Mohamed Yusoff et al.(2021):34190524}"	""	""	"Malaysia"	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00000256"	"00028"
"00000257"	"00028"
"00000775"	"00152"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00028, 00152
## Count = 0


## Screenings ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"
"0000000271"	"00000256"	"1"	"00002"	"00002"	"2020-12-14 11:39:31"	""	""	"IHC;SEQ-NG"	"DNA"
"0000000272"	"00000257"	"1"	"00002"	"00002"	"2020-12-14 12:06:14"	""	""	"SEQ"	"DNA"
"0000000869"	"00000775"	"1"	"00004"	"00004"	"2021-07-11 15:56:59"	""	""	"PCR;SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000000271"	"BRAF"
"0000000272"	"BRAF"
"0000000869"	"BRAF"


## 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 = 3
"{{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}}"
"0000001272"	"0"	"90"	"7"	"140753336"	"140753336"	"subst"	"0"	"00002"	"BRAF_000001"	"g.140753336A>T"	"1"	"{dbSNP:rs113488022}, {OMIM:164757:0001}, {dbSNP:rs113488022}, {ClinVar:13961}"	"V600E"	""	"rs113488022"
"0000001273"	"0"	"90"	"7"	"140753336"	"140753336"	"subst"	"0"	"00002"	"BRAF_000001"	"g.140753336A>T"	"1"	"{PMID:Wai Kien Yip et al. (2013):23992393}, {dbSNP:rs113488022}, {OMIM:164757:0001}, {ClinVar:13961}"	"V600E"	""	"rs113488022"
"0000003042"	"0"	"90"	"7"	"176429"	"176429"	"subst"	"0"	"00004"	"BRAF_000001"	"g.176429T>A"	"11/50"	"{PMID:A A Mohamed Yusoff et al.(2021):34190524}"	""	"BRAF V600E"	"rs113488022"


## 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 BRAF
## Count = 3
"{{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}}"
"0000001272"	"00000066"	"90"	"1799"	"0"	"1799"	"0"	"c.1799T>A"	""	"p.(Val600Glu)"	"r.(?)"	""	""	"{ClinVar:13961}"
"0000001273"	"00000066"	"90"	"1799"	"0"	"1799"	"0"	"c.1799T>A"	""	"p.(Val600Glu)"	"r.(?)"	""	""	"{ClinVar:13961}"
"0000003042"	"00000066"	"90"	"1799"	"0"	"1799"	"0"	"c.1799T>A"	"15"	"p.(Val600Glu)"	"r.(?)"	""	""	"Pathogenic"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{variantid}}"
"0000000271"	"0000001272"
"0000000272"	"0000001273"
"0000000869"	"0000003042"