### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PAX9)
# 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}}"
"PAX9"	"paired box 9"	"14"	"q13.3"	"unknown"	"NG_013357.1"	"UD_144430451900"	""	""	""	"1"	"8623"	"5083"	"167416"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-12-13 12:32:31"	""	""	"00005"	"2021-09-09 16:07:40"


## 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}}"
"00000063"	"PAX9"	"paired box 9"	"001"	"NM_006194.3"	""	"NP_006185.1"	""	""	""	"-726"	"2381"	"1026"	"36657568"	"36677807"	"00001"	"2020-12-13 12:33:02"	""	""


## 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}}"
"00041"	"-"	"Hypodontia"	""	""	""	""	""	"00001"	"2020-12-13 12:29:18"	"00001"	"2020-12-13 12:30:29"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"PAX9"	"00041"


## Individuals ## Do not remove or alter this header ##
## Count = 7
"{{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}}"
"00000244"	""	""	""	"1"	""	"00002"	"{DOI:Nur Farahiyah Mohamed Idrus et al. (2016):10.7454/uiphm.v1i0.37}"	""	""	"Malaysia"	""	""	"F"
"00000344"	""	""	""	"1"	""	"00002"	"Nurul Hasyiqin Fauzi et al. 2020 (https://www.researchgate.net/publication/344679284_PAX9_Polymorphism_in_Non-Syndromic_Hypodontia_in_the_Malaysian_Population)"	""	""	"Malaysia"	""	""	""
"00000585"	""	""	""	"1"	""	"00004"	"Widya Lestari et al.(2017)(https://search.proquest.com/docview/1979948315/fulltextPDF/A1556A50A6E442CCPQ/1?accountid=44024)"	"Patient 1B"	""	"Malaysia"	""	""	"F"
"00000586"	""	""	""	"1"	""	"00004"	"Widya Lestari et al.(2017)(https://search.proquest.com/docview/1979948315/fulltextPDF/A1556A50A6E442CCPQ/1?accountid=44024)"	"Patient 1C"	""	"Malaysia"	""	""	"F"
"00000587"	""	""	""	"1"	""	"00004"	"Widya Lestari et al.(2017)(https://search.proquest.com/docview/1979948315/fulltextPDF/A1556A50A6E442CCPQ/1?accountid=44024)"	"Patient 1D"	""	"Malaysia"	""	""	"F"
"00000589"	""	""	""	"1"	""	"00004"	"Widya Lestari et al.(2017)(https://search.proquest.com/docview/1979948315/fulltextPDF/A1556A50A6E442CCPQ/1?accountid=44024)"	"patient 2A"	""	"Malaysia"	""	""	"M"
"00000590"	""	""	""	"1"	""	"00004"	"Widya Lestari et al.(2017)(https://search.proquest.com/docview/1979948315/fulltextPDF/A1556A50A6E442CCPQ/1?accountid=44024)"	"Patient 2C"	""	"Malaysia"	""	""	"F"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 7
"{{individualid}}"	"{{diseaseid}}"
"00000244"	"00041"
"00000344"	"00041"
"00000585"	"00041"
"00000586"	"00041"
"00000587"	"00041"
"00000589"	"00041"
"00000590"	"00041"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00041
## Count = 5
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000127"	"00041"	"00000244"	"00002"	"Investigation of PAX9 mutation of non-syndromic hypodontia with clinical\r\nvariability in a Malaysian hypodontia family"	""
"0000000204"	"00041"	"00000585"	"00004"	"missing posterior tooth (16)"	""
"0000000205"	"00041"	"00000586"	"00004"	"missing anterior teeth (23)"	""
"0000000206"	"00041"	"00000587"	"00004"	"missing anterior teeth (32)"	""
"0000000207"	"00041"	"00000590"	"00004"	"missing tooth (35) and the retained deciduous molar"	""


## Screenings ## Do not remove or alter this header ##
## Count = 7
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"
"0000000259"	"00000244"	"1"	"00002"	"00002"	"2020-12-13 12:41:41"	""	""	"PCR;SEQ"	"DNA"
"0000000359"	"00000344"	"1"	"00002"	"00002"	"2021-01-11 12:27:35"	""	""	"PCR"	"DNA"
"0000000648"	"00000585"	"1"	"00004"	"00004"	"2021-04-20 10:00:23"	""	""	"PCR;PAGE;SEQ"	"DNA"
"0000000649"	"00000586"	"1"	"00004"	"00004"	"2021-04-20 10:12:07"	""	""	"PCR;PAGE;SEQ"	"DNA"
"0000000651"	"00000587"	"1"	"00004"	"00004"	"2021-04-20 10:27:39"	""	""	"PCR;PAGE;SEQ"	"DNA"
"0000000653"	"00000589"	"1"	"00004"	"00004"	"2021-04-20 10:35:48"	""	""	"PCR;PAGE;SEQ"	"DNA"
"0000000655"	"00000590"	"1"	"00004"	"00004"	"2021-04-20 10:39:15"	""	""	"PCR;PAGE;SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}"	"{{geneid}}"
"0000000259"	"PAX9"
"0000000359"	"PAX9"
"0000000648"	"PAX9"
"0000000649"	"PAX9"
"0000000651"	"PAX9"
"0000000653"	"PAX9"
"0000000655"	"PAX9"


## 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 = 12
"{{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}}"
"0000001240"	"0"	"90"	"14"	"36663357"	"36663357"	"del"	"0"	"00002"	"PAX9_000001"	"g.36663357del"	"1/4"	""	"465del G"	""	"rs863224514"
"0000001241"	"0"	"90"	"14"	"36663512"	"36663512"	"subst"	"0"	"00002"	"PAX9_000002"	"g.36663512T>G"	"1/4"	""	"c.620G>T"	""	"rs1196873747"
"0000001242"	"0"	"90"	"14"	"36663165"	"36663165"	"subst"	"0"	"00002"	"PAX9_000003"	"g.36663165G>T"	"1/4"	""	"c.273T>G"	""	""
"0000001243"	"0"	"90"	"14"	"36663354"	"36663354"	"del"	"0"	"00002"	"PAX9_000004"	"g.36663354del"	"1/4"	""	"c.462delT"	""	"rs1554128476"
"0000001597"	"0"	"10"	"14"	"36666547"	"36666547"	"subst"	"0"	"00002"	"PAX9_000005"	"g.36666547C>T"	"13/31"	"{dbSNP:rs12881240}, {ClinVar:313171}"	""	""	"rs12881240"
"0000001598"	"0"	"10"	"14"	"36666548"	"36666548"	"subst"	"0"	"00002"	"PAX9_000006"	"g.36666548G>C"	"17/31"	"{dbSNP:rs4904210}, {ClinVar:259937}"	""	""	"rs4904210"
"0000001599"	"3"	"10"	"14"	"36666548"	"36666548"	"subst"	"0"	"00002"	"PAX9_000006"	"g.36666548G>C"	"7/31"	"{dbSNP:rs4904210}, {ClinVar:259937}"	""	""	"rs4904210"
"0000002617"	"0"	"90"	"14"	"36663369"	"36663369"	"del"	"0"	"00004"	"PAX9_000007"	"g.36663369delC"	""	"Widya Lestari et al.(2017)(https://search.proquest.com/docview/1979948315/fulltextPDF/A1556A50A6E442CCPQ/1?accountid=44024)"	""	""	"rs730880250"
"0000002618"	"0"	"90"	"14"	"36663521"	"36663521"	"subst"	"0"	"00004"	"PAX9_000008"	"g.36663521A>T"	""	"Widya Lestari et al.(2017)(https://search.proquest.com/docview/1979948315/fulltextPDF/A1556A50A6E442CCPQ/1?accountid=44024)"	""	""	""
"0000002621"	"0"	"90"	"14"	"36663372"	"36663372"	"del"	"0"	"00004"	"PAX9_000009"	"g.36663372delT"	""	"Widya Lestari et al.(2017)(https://search.proquest.com/docview/1979948315/fulltextPDF/A1556A50A6E442CCPQ/1?accountid=44024)"	""	""	""
"0000002624"	"0"	"90"	"14"	"36663519"	"36663519"	"subst"	"0"	"00004"	"PAX9_000010"	"g.36663519C>T"	""	"Widya Lestari et al.(2017)(https://search.proquest.com/docview/1979948315/fulltextPDF/A1556A50A6E442CCPQ/1?accountid=44024)"	""	""	"rs12058363"
"0000002626"	"0"	"90"	"14"	"36663520"	"36663520"	"subst"	"0"	"00004"	"PAX9_000011"	"g.36663520A>T"	""	"Widya Lestari et al.(2017)(https://search.proquest.com/docview/1979948315/fulltextPDF/A1556A50A6E442CCPQ/1?accountid=44024)"	""	""	"rs376561094"


## 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 PAX9
## Count = 12
"{{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}}"
"0000001240"	"00000063"	"90"	"465"	"0"	"465"	"0"	"c.465del"	"3"	"p.(Tyr156Thrfs*56)"	"r.(?)"	""	""	""
"0000001241"	"00000063"	"90"	"620"	"0"	"620"	"0"	"c.620T>G"	"2"	"p.(Ile207Ser)"	"r.(?)"	""	""	""
"0000001242"	"00000063"	"90"	"273"	"0"	"273"	"0"	"c.273G>T"	"3"	"p.(Lys91Asn)"	"r.(?)"	""	""	""
"0000001243"	"00000063"	"90"	"462"	"0"	"462"	"0"	"c.462del"	"3"	"p.(Tyr156Thrfs*56)"	"r.(?)"	""	""	""
"0000001597"	"00000063"	"10"	"717"	"0"	"717"	"0"	"c.717C>T"	"3"	"p.(=)"	"r.(=)"	""	""	"{ClinVar:313171}"
"0000001598"	"00000063"	"10"	"718"	"0"	"718"	"0"	"c.718G>C"	"3"	"p.(Ala240Pro)"	"r.(?)"	""	""	"{ClinVar:259937}"
"0000001599"	"00000063"	"10"	"718"	"0"	"718"	"0"	"c.718G>C"	"3"	"p.(Ala240Pro)"	"r.(?)"	""	""	"{ClinVar:259937}"
"0000002617"	"00000063"	"90"	"477"	"0"	"477"	"0"	"c.477delC"	"3"	"p.(Tyr160Thrfs*52)"	"r.(?)"	"c.477delG"	""	""
"0000002618"	"00000063"	"90"	"629"	"0"	"629"	"0"	"c.629A>T"	"2"	"p.(Gln210Leu)"	"r.(?)"	"c.629G>T"	""	""
"0000002621"	"00000063"	"90"	"480"	"0"	"480"	"0"	"c.480delC"	"3"	"p.(Ser161Argfs*51)"	"r.(?)"	"c.480delT"	""	""
"0000002624"	"00000063"	"90"	"627"	"0"	"627"	"0"	"c.627C>T"	""	"p.(=)"	"r.(=)"	""	""	""
"0000002626"	"00000063"	"90"	"628"	"0"	"628"	"0"	"c.628C>T"	"2"	"p.(Gln210*)"	"r.(?)"	"c.628A>T"	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 12
"{{screeningid}}"	"{{variantid}}"
"0000000259"	"0000001240"
"0000000259"	"0000001241"
"0000000259"	"0000001242"
"0000000259"	"0000001243"
"0000000359"	"0000001597"
"0000000359"	"0000001598"
"0000000359"	"0000001599"
"0000000648"	"0000002617"
"0000000649"	"0000002618"
"0000000651"	"0000002621"
"0000000653"	"0000002624"
"0000000655"	"0000002626"