### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = RET)
# 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}}"
"RET"	"ret proto-oncogene"	"10"	"q11.21"	"unknown"	"LRG_363"	"UD_144433564854"	""	""	""	"1"	"9967"	"5979"	"164761"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-11-10 08:53:27"	""	""	"00006"	"2021-08-23 09:52:07"


## 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}}"
"00000034"	"RET"	"transcript variant 2"	"001"	"NM_020975.5"	""	"NP_066124.1"	""	""	""	"-232"	"5427"	"3345"	"43077027"	"43130351"	"00001"	"2020-11-10 08:54:19"	""	""


## 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}}"
"00022"	"HGSOC"	"high grade serous ovarian cancer"	""	""	""	""	""	"00001"	"2020-11-08 09:34:16"	""	""
"00094"	"HSCR"	"Hirschsprung’s disease"	""	"142623"	""	""	""	"00001"	"2021-03-28 15:43:33"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"RET"	"00022"
"RET"	"00094"


## 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}}"
"00000147"	""	""	""	"1"	""	"00002"	"{PMID:Nurul-Syakima Ab Mutalib et al. (2014):25404506}"	""	""	"Malaysia"	""	""	"F"
"00000548"	""	""	""	"1"	""	"00004"	"http://journalarticle.ukm.my/13243/1/33-85-1-PB.pdf"	""	""	"Malaysia"	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00000147"	"00022"
"00000548"	"00094"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00022, 00094
## Count = 0


## 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}}"
"0000000162"	"00000147"	"1"	"00002"	"00002"	"2020-11-10 09:42:38"	""	""	"SEQ-NG;PCR"	"DNA"
"0000000599"	"00000548"	"1"	"00004"	"00004"	"2021-03-28 16:04:05"	""	""	"PCR;SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000000162"	"RET"
"0000000599"	"RET"


## 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}}"
"0000000756"	"0"	"10"	"10"	"43118395"	"43118395"	"subst"	"0"	"00002"	"RET_000001"	"g.43118395G>T"	"5/9"	"{PMID:Nurul-Syakima Ab Mutalib et al. (2014):25404506}{dbSNP:rs1800861}"	"43613843G>T"	""	"rs1800861"
"0000000757"	"3"	"10"	"10"	"43118395"	"43118395"	"subst"	"0"	"00002"	"RET_000001"	"g.43118395G>T"	"1/9"	"{PMID:Nurul-Syakima Ab Mutalib et al. (2014):25404506}{dbSNP:rs1800861}"	"43613843G>T"	""	"rs1800861"
"0000002528"	"0"	"90"	"10"	"43100520"	"43100520"	"subst"	"0"	"00004"	"RET_000002"	"g.43100520A>G"	""	"Nor Azian Abdul Murad et al.(2017)"	""	""	"rs1800858"
"0000002529"	"0"	"90"	"10"	"43111239"	"43111239"	"subst"	"0"	"00004"	"RET_000003"	"g.43111239A>G"	""	"Nor Azian Abdul Murad et al.(2017)"	""	""	"rs1800860"
"0000002530"	"0"	"90"	"10"	"43118395"	"43118395"	"subst"	"0"	"00004"	"RET_000001"	"g.43118395G>T"	""	"Nor Azian Abdul Murad et al.(2017)"	""	""	"rs1800861"
"0000002531"	"0"	"90"	"10"	"43114671"	"43114671"	"subst"	"0"	"00004"	"RET_000004"	"g.43114671G>A"	""	"Nor Azian Abdul Murad et al.(2017)"	""	""	"rs1799939"


## 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 RET
## 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}}"
"0000000756"	"00000034"	"10"	"2307"	"0"	"2307"	"0"	"c.2307G>T"	""	"p.(=)"	"r.(=)"	""	""	"{ClinVar:167590}"
"0000000757"	"00000034"	"10"	"2307"	"0"	"2307"	"0"	"c.2307G>T"	""	"p.(=)"	"r.(=)"	""	""	"{ClinVar:167590}"
"0000002528"	"00000034"	"90"	"135"	"0"	"135"	"0"	"c.135A>G"	"2"	"p.(=)"	"r.(=)"	""	""	"Risk-factor"
"0000002529"	"00000034"	"90"	"1296"	"0"	"1296"	"0"	"c.1296A>G"	"7"	"p.(=)"	"r.(=)"	""	""	"Benign"
"0000002530"	"00000034"	"90"	"2307"	"0"	"2307"	"0"	"c.2307G>T"	"13"	"p.(=)"	"r.(=)"	""	""	""
"0000002531"	"00000034"	"90"	"2071"	"0"	"2071"	"0"	"c.2071G>A"	"11"	"p.(Gly691Ser)"	"r.(?)"	""	""	"Likely-Benign"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{variantid}}"
"0000000162"	"0000000756"
"0000000162"	"0000000757"
"0000000599"	"0000002528"
"0000000599"	"0000002529"
"0000000599"	"0000002530"
"0000000599"	"0000002531"