### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TPO)
# 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}}"
"TPO"	"thyroid peroxidase"	"2"	"p25.3"	"unknown"	"NG_011581.1"	"UD_144537816664"	""	""	""	"1"	"12015"	"7173"	"606765"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2021-03-18 11:51:40"	""	""	"00005"	"2021-08-01 14:18:02"


## Transcripts ## Do not remove or alter this header ##
## Count = 6
"{{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}}"
"00000410"	"TPO"	"transcript variant 1"	"004"	"NM_000547.5"	""	"NP_000538.3"	""	""	""	"-91"	"3055"	"2802"	"1413461"	"1542727"	"00001"	"2021-03-18 11:51:40"	""	""
"00000626"	"TPO"	"transcript variant 2"	"005"	"NM_175719.3"	""	"NP_783650.1"	""	""	""	"-91"	"2884"	"2631"	"1413461"	"1542727"	"00001"	"2021-05-04 15:30:56"	""	""
"00000627"	"TPO"	"transcript variant 4"	"015"	"NM_175721.3"	""	"NP_783652.1"	""	""	""	"-1"	"2923"	"2670"	"1414408"	"1542727"	"00001"	"2021-05-04 15:30:56"	""	""
"00000628"	"TPO"	"transcript variant 5"	"016"	"NM_175722.3"	""	"NP_783653.1"	""	""	""	"-1"	"2536"	"2283"	"1414408"	"1542727"	"00001"	"2021-05-04 15:30:56"	""	""
"00000629"	"TPO"	"transcript variant 6"	"006"	"NM_001206744.1"	""	"NP_001193673.1"	""	""	""	"-86"	"3055"	"2802"	"1413461"	"1542727"	"00001"	"2021-05-04 15:30:56"	""	""
"00000630"	"TPO"	"transcript variant 7"	"007"	"NM_001206745.1"	""	"NP_001193674.1"	""	""	""	"-86"	"2884"	"2631"	"1413461"	"1542727"	"00001"	"2021-05-04 15:30:56"	""	""


## 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}}"
"00088"	"TDH"	"Thyroid Dyshormonogenesis"	""	""	""	""	""	"00001"	"2021-03-18 11:50:52"	""	""
"00089"	"CH"	"Congenital hypothyroidism"	""	""	""	""	""	"00001"	"2021-03-18 12:21:09"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"TPO"	"00088"
"TPO"	"00089"


## 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}}"
"00000527"	""	""	""	"1"	""	"00004"	"{PMID:Ching Chin Lee et al.(2015):25564141}"	"cases being due to thyroid dyshormonogenesis"	""	"Malaysia"	"Chinese"	""	""
"00000549"	""	""	""	"2"	""	"00004"	"{PMID:Ching Chin Lee et al.(2013):23737781}"	""	""	"Malaysia"	"Indian"	""	"F"
"00000611"	""	""	""	"1"	""	"00004"	"{PMID:Ching Chin Lee et al.(2014):24717978}"	""	""	"Malaysia"	"Malay"	""	"M"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00000527"	"00089"
"00000549"	"00089"
"00000611"	"00089"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00088, 00089
## Count = 2
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000187"	"00089"	"00000549"	"00004"	"developed multinodular goiters"	""
"0000000217"	"00089"	"00000611"	"00004"	"He had a thyroid gland but later developed a diffuse goiter (right lobe 3.5×1.6×1.4cm; left lobe 4.5 ×1.6×1.3cm) at 7 years old"	""


## 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}}"
"0000000575"	"00000527"	"1"	"00004"	"00004"	"2021-03-18 12:01:47"	""	""	"PCR;SEQ"	"DNA"
"0000000600"	"00000549"	"1"	"00004"	"00004"	"2021-03-29 14:18:11"	""	""	"PCR"	"DNA"
"0000000677"	"00000611"	"1"	"00004"	"00004"	"2021-05-04 10:20:42"	""	""	"PCR"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000000575"	"TPO"
"0000000600"	"TPO"
"0000000677"	"TPO"


## 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 = 10
"{{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}}"
"0000002423"	"0"	"70"	"2"	"1496647"	"1496647"	"dup"	"0"	"00004"	"TPO_000001"	"g.1496647dup"	""	"{PMID:Ching Chin Lee et al.(2015):25564141}"	""	""	"rs770781635"
"0000002424"	"0"	"90"	"2"	"1456133"	"1456135"	"del"	"0"	"00004"	"TPO_000002"	"g.1456133_1456135del"	""	"{PMID:Ching Chin Lee et al.(2015):25564141}"	""	""	"rs772164623"
"0000002425"	"0"	"90"	"2"	"1477452"	"1477452"	"subst"	"0"	"00004"	"TPO_000003"	"g.1477452C>T"	""	"{PMID:Ching Chin Lee et al.(2015):25564141}"	""	""	"rs758368355"
"0000002532"	"3"	"70"	"2"	"1484759"	"1484759"	"subst"	"0"	"00004"	"TPO_000005"	"g.1484759T>G"	""	"{PMID:Ching Chin Lee et al.(2013):23737781}"	""	""	""
"0000002533"	"0"	"70"	"2"	"1456232"	"1456232"	"subst"	"0"	"00004"	"TPO_000006"	"g.1456232G>T"	""	"{PMID:Ching Chin Lee et al.(2013):23737781}"	""	""	"rs4927611"
"0000002534"	"0"	"70"	"2"	"1477459"	"1477459"	"subst"	"0"	"00004"	"TPO_000007"	"g.1477459G>C"	""	"{PMID:Ching Chin Lee et al.(2013):23737781}"	""	""	"rs2175977"
"0000002535"	"0"	"70"	"2"	"1496127"	"1496127"	"subst"	"0"	"00004"	"TPO_000008"	"g.1496127C>T"	""	"{PMID:Ching Chin Lee et al.(2013):23737781}"	""	""	"rs732608"
"0000002536"	"0"	"90"	"2"	"1496155"	"1496155"	"subst"	"0"	"00004"	"TPO_000009"	"g.1496155A>C"	""	"{PMID:Ching Chin Lee et al.(2013):23737781}"	""	""	"rs732609"
"0000002537"	"0"	"70"	"2"	"1516904"	"1516904"	"subst"	"0"	"00004"	"TPO_000010"	"g.1516904T>C"	""	"{PMID:Ching Chin Lee et al.(2013):23737781}"	""	""	"rs1126799"
"0000002696"	"0"	"90"	"2"	"1477425"	"1477425"	"subst"	"0"	"00004"	"TPO_000011"	"g.1477425G>A"	""	"{PMID:Ching Chin Lee et al.(2014):24717978}"	""	""	"rs753012199"


## 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 TPO
## Count = 10
"{{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}}"
"0000002423"	"00000410"	"50"	"2268"	"0"	"2268"	"0"	"c.2268dup"	""	"p.(Glu757*)"	"r.(?)"	""	""
"0000002424"	"00000410"	"50"	"670"	"0"	"672"	"0"	"c.670_672del"	""	"p.(Asp224del)"	"r.(?)"	""	""
"0000002425"	"00000410"	"50"	"1186"	"0"	"1186"	"0"	"c.1186C>T"	""	"p.(Arg396Cys)"	"r.(?)"	""	""
"0000002532"	"00000410"	"70"	"1502"	"0"	"1502"	"0"	"c.1502T>G"	""	"p.(Val501Gly)"	"r.(?)"	""	""
"0000002533"	"00000410"	"70"	"769"	"0"	"769"	"0"	"c.769G>T"	"1"	"p.(Ala257Ser)"	"r.(?)"	""	"Benign"
"0000002534"	"00000410"	"70"	"1193"	"0"	"1193"	"0"	"c.1193G>C"	"7"	"p.(Ser398Thr)"	"r.(?)"	""	"Benign"
"0000002535"	"00000410"	"70"	"2145"	"0"	"2145"	"0"	"c.2145C>T"	"8"	"p.(=)"	"r.(=)"	""	"Benign"
"0000002536"	"00000410"	"90"	"2173"	"0"	"2173"	"0"	"c.2173A>C"	"12"	"p.(Thr725Pro)"	"r.(?)"	""	"Benign"
"0000002537"	"00000410"	"70"	"2540"	"0"	"2540"	"0"	"c.2540T>C"	"15"	"p.(Val847Ala)"	"r.(?)"	""	"Benign"
"0000002696"	"00000410"	"90"	"1159"	"0"	"1159"	"0"	"c.1159G>A"	"8"	"p.(Gly387Arg)"	"r.(?)"	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}"	"{{variantid}}"
"0000000575"	"0000002423"
"0000000575"	"0000002424"
"0000000575"	"0000002425"
"0000000600"	"0000002532"
"0000000600"	"0000002533"
"0000000600"	"0000002534"
"0000000600"	"0000002535"
"0000000600"	"0000002536"
"0000000600"	"0000002537"
"0000000677"	"0000002696"